NM_000540.3(RYR1):c.1122+52T>C
|
rs4476278
|
0.98614
|
NM_000540.3(RYR1):c.1077T>C (p.Ala359=)
|
rs10406027
|
0.90489
|
NM_000540.3(RYR1):c.1441-235A>G
|
rs7250476
|
0.90305
|
NM_000540.3(RYR1):c.1244+189G>A
|
rs4802469
|
0.90004
|
NM_000540.3(RYR1):c.2167+321T>A
|
rs62118989
|
0.86066
|
NM_000540.3(RYR1):c.45+300T>C
|
rs919781
|
0.83640
|
NM_000540.3(RYR1):c.2578-67A>G
|
rs2304148
|
0.80109
|
NM_000540.3(RYR1):c.1925+86T>C
|
rs2071085
|
0.65304
|
NM_000540.3(RYR1):c.1668G>A (p.Ser556=)
|
rs2288888
|
0.64200
|
NM_000540.3(RYR1):c.2168-57T>G
|
rs4802474
|
0.62888
|
NM_000540.3(RYR1):c.2286C>T (p.Pro762=)
|
rs3745847
|
0.62871
|
NM_000540.3(RYR1):c.2361-68C>T
|
rs2304147
|
0.62861
|
NM_000540.3(RYR1):c.2167+325T>A
|
rs34123361
|
0.61946
|
NM_000540.3(RYR1):c.594A>G (p.Leu198=)
|
rs2229139
|
0.60966
|
NM_000540.3(RYR1):c.632-276C>T
|
rs7253151
|
0.60435
|
NM_000540.3(RYR1):c.2943G>A (p.Thr981=)
|
rs2228069
|
0.60233
|
NM_000540.3(RYR1):c.2168-281C>T
|
rs7252456
|
0.58170
|
NM_000540.3(RYR1):c.2870+221G>A
|
rs2304150
|
0.39341
|
NM_000540.3(RYR1):c.12624+1597T>C
|
rs2960339
|
0.38829
|
NM_000540.3(RYR1):c.7835+5A>G
|
rs1469695
|
0.38217
|
NM_000540.3(RYR1):c.3456C>T (p.Ile1152=)
|
rs11083462
|
0.38131
|
NM_000540.3(RYR1):c.7926+28A>G
|
rs1469699
|
0.34603
|
NM_000540.3(RYR1):c.8068-155A>G
|
rs2915950
|
0.34559
|
NM_000540.3(RYR1):c.8067+152G>A
|
rs2915949
|
0.33561
|
NM_000540.3(RYR1):c.8190T>C (p.Asp2730=)
|
rs2915951
|
0.33482
|
NM_000540.3(RYR1):c.8816+304C>T
|
rs11880187
|
0.33196
|
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.8816+204_8816+206dup
|
rs35822269
|
0.32594
|
NM_000540.3(RYR1):c.9186A>G (p.Pro3062=)
|
rs2071089
|
0.32394
|
NM_000540.3(RYR1):c.8816+17T>A
|
rs2915959
|
0.32203
|
NM_000540.3(RYR1):c.8693-10G>C
|
rs2915958
|
0.32159
|
NM_000540.3(RYR1):c.8692+137T>C
|
rs2915957
|
0.32156
|
NM_000540.3(RYR1):c.8816+43A>C
|
rs2960346
|
0.32141
|
NM_000540.3(RYR1):c.8816+87G>T
|
rs2960347
|
0.31882
|
NM_000540.3(RYR1):c.8816+171C>A
|
rs2960348
|
0.31765
|
NM_000540.3(RYR1):c.8617-35C>T
|
rs2960344
|
0.31588
|
NM_000540.3(RYR1):c.8692+28T>G
|
rs2960345
|
0.31541
|
NM_000540.3(RYR1):c.10440+235T>C
|
rs3786829
|
0.27932
|
NM_000540.3(RYR1):c.10627-255T>C
|
rs2254484
|
0.27819
|
NM_000540.3(RYR1):c.5815-227T>C
|
rs11882920
|
0.24199
|
NM_000540.3(RYR1):c.7614+10C>G
|
rs2960323
|
0.23284
|
NM_000540.3(RYR1):c.6127+167C>T
|
rs11880894
|
0.22624
|
NM_000540.3(RYR1):c.10825-218C>G
|
rs908644
|
0.21610
|
NM_000540.3(RYR1):c.4620+256C>T
|
rs57257936
|
0.21384
|
NM_000540.3(RYR1):c.4935-53T>G
|
rs16972651
|
0.21181
|
NM_000540.3(RYR1):c.9173-98T>G
|
rs2960337
|
0.20350
|
NM_000540.3(RYR1):c.4161-246A>C
|
rs56278664
|
0.19772
|
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.1123-156G>A
|
rs3745844
|
0.18880
|
NM_000540.3(RYR1):c.10019-253C>T
|
rs71356810
|
0.18828
|
NM_000540.3(RYR1):c.6891+272T>G
|
rs11879442
|
0.18743
|
NM_000540.3(RYR1):c.800+142T>G
|
rs73930577
|
0.18107
|
NM_000540.3(RYR1):c.7872C>T (p.Arg2624=)
|
rs1469698
|
0.17268
|
NM_000540.3(RYR1):c.8933-192A>G
|
rs58360688
|
0.17014
|
NM_000540.3(RYR1):c.7614+259C>T
|
rs2960324
|
0.16667
|
NM_000540.3(RYR1):c.7863C>T (p.His2621=)
|
rs2229142
|
0.16420
|
NM_000540.3(RYR1):c.7615-237A>C
|
rs2915947
|
0.16273
|
NM_000540.3(RYR1):c.2167+31C>G
|
rs2071086
|
0.16029
|
NM_000540.3(RYR1):c.9173-21C>T
|
rs2960338
|
0.15903
|
NM_000540.3(RYR1):c.10456-518T>C
|
rs2071090
|
0.14158
|
NM_000540.3(RYR1):c.6274+299C>T
|
rs7246905
|
0.13561
|
NM_000540.3(RYR1):c.14647-191T>C
|
rs10408694
|
0.13233
|
NM_000540.3(RYR1):c.1925+150C>G
|
rs73044990
|
0.13102
|
NM_000540.3(RYR1):c.13515-239C>G
|
rs2960320
|
0.12656
|
NM_000540.3(RYR1):c.5548-261A>T
|
rs34370689
|
0.12433
|
NM_000540.3(RYR1):c.10687-7C>T
|
rs2960354
|
0.12378
|
NM_000540.3(RYR1):c.270+27G>A
|
rs3745843
|
0.12316
|
NM_000540.3(RYR1):c.10019-203C>T
|
rs61361030
|
0.12287
|
NM_000540.3(RYR1):c.10824+158_10824+159insA
|
rs3833268
|
0.12181
|
NM_000540.3(RYR1):c.5814+35C>G
|
rs16972654
|
0.11720
|
NM_000540.3(RYR1):c.8933-269G>A
|
rs80203847
|
0.11642
|
NM_000540.3(RYR1):c.14646+113C>T
|
rs7254175
|
0.11636
|
NM_000540.3(RYR1):c.4161-224C>T
|
rs56373685
|
0.11251
|
NM_000540.3(RYR1):c.3382-410T>G
|
rs7258075
|
0.11148
|
NM_000540.3(RYR1):c.6548+228C>T
|
rs35632532
|
0.11141
|
NM_000540.3(RYR1):c.5815-123G>A
|
rs11880126
|
0.10629
|
NM_000540.3(RYR1):c.9123-61C>T
|
rs2960336
|
0.10368
|
NM_000540.3(RYR1):c.7098C>T (p.Pro2366=)
|
rs2229147
|
0.10248
|
NM_000540.3(RYR1):c.12625-256C>T
|
rs10415812
|
0.10185
|
NM_000540.3(RYR1):c.12095-129G>C
|
rs2945046
|
0.10141
|
NM_000540.3(RYR1):c.5548-76G>A
|
rs74778515
|
0.10141
|
NM_000540.3(RYR1):c.7028-129C>T
|
rs73030980
|
0.09933
|
NM_000540.3(RYR1):c.6274+258C>A
|
rs77003470
|
0.09886
|
NM_000540.3(RYR1):c.7500G>A (p.Ala2500=)
|
rs2228072
|
0.09736
|
NM_000540.3(RYR1):c.10019-269T>G
|
rs73032604
|
0.09431
|
NM_000540.3(RYR1):c.11141+55C>T
|
rs61441471
|
0.09039
|
NM_000540.3(RYR1):c.4454+265T>C
|
rs80306848
|
0.08960
|
NM_000540.3(RYR1):c.7527G>A (p.Val2509=)
|
rs2071088
|
0.08780
|
NM_000540.3(RYR1):c.2786+129T>G
|
rs67515748
|
0.08712
|
NM_000540.3(RYR1):c.10260-214G>C
|
rs111975718
|
0.07977
|
NM_000540.3(RYR1):c.9686-146G>A
|
rs79817401
|
0.07898
|
NM_000540.3(RYR1):c.6549-157C>T
|
rs59167126
|
0.07818
|
NM_000540.3(RYR1):c.4160+130A>G
|
rs17707979
|
0.07750
|
NM_000540.3(RYR1):c.7836-66A>G
|
rs1469697
|
0.07682
|
NM_000540.3(RYR1):c.6128-184A>T
|
rs80096436
|
0.07106
|
NM_000540.3(RYR1):c.6128-281T>C
|
rs75917973
|
0.07099
|
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.7323+20C>A
|
rs2234709
|
0.06555
|
NM_000540.3(RYR1):c.7089C>T (p.Cys2363=)
|
rs2228071
|
0.06536
|
NM_000540.3(RYR1):c.13998+52T>G
|
rs748813169
|
0.06273
|
NM_000540.3(RYR1):c.6664-32A>G
|
rs73930595
|
0.06147
|
NM_000540.3(RYR1):c.7835+27G>C
|
rs2960325
|
0.06130
|
NM_000540.3(RYR1):c.1244+204G>A
|
rs117954351
|
0.05992
|
NM_000540.3(RYR1):c.9690G>A (p.Leu3230=)
|
rs2304151
|
0.05835
|
NM_000540.3(RYR1):c.631+49C>T
|
rs57132842
|
0.05738
|
NM_000540.3(RYR1):c.9123-302G>C
|
rs79974109
|
0.05678
|
NM_000540.3(RYR1):c.11907+22G>A
|
rs45555835
|
0.05550
|
NM_000540.3(RYR1):c.14130-201G>A
|
rs12459409
|
0.05332
|
NM_000540.3(RYR1):c.9685+233T>C
|
rs2915943
|
0.05325
|
NM_000540.3(RYR1):c.9472+30C>T
|
rs77374921
|
0.05323
|
NM_000540.3(RYR1):c.9122+329A>G
|
rs117201461
|
0.05310
|
NM_000540.3(RYR1):c.8932+304A>G
|
rs77696417
|
0.05221
|
NM_000540.3(RYR1):c.7615-295C>T
|
rs77022898
|
0.05192
|
NM_000540.3(RYR1):c.11259+294del
|
rs147090810
|
0.05184
|
NM_000540.3(RYR1):c.11141+252C>T
|
rs12459024
|
0.05080
|
NM_000540.3(RYR1):c.8816+276A>G
|
rs60530219
|
0.04970
|
NM_000540.3(RYR1):c.7836-70G>C
|
rs1469696
|
0.04738
|
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.4294-320T>G
|
rs111835837
|
0.04705
|
NM_000540.3(RYR1):c.3858T>C (p.Leu1286=)
|
rs16972636
|
0.04660
|
NM_000540.3(RYR1):c.7324-245del
|
rs200673219
|
0.04525
|
NM_000540.3(RYR1):c.14969+72C>T
|
rs111891859
|
0.04506
|
NM_000540.3(RYR1):c.14969+32G>C
|
rs113102243
|
0.04497
|
NM_000540.3(RYR1):c.10687-10C>T
|
rs77592501
|
0.04475
|
NM_000540.3(RYR1):c.45+121A>G
|
rs79912670
|
0.04415
|
NM_000540.3(RYR1):c.-108T>C
|
rs4632259
|
0.04408
|
NM_000540.3(RYR1):c.11360-105C>G
|
rs79117865
|
0.04282
|
NM_000540.3(RYR1):c.10687-126A>G
|
rs112541479
|
0.04275
|
NM_000540.3(RYR1):c.12012+97G>A
|
rs78884140
|
0.04274
|
NM_000540.3(RYR1):c.11689+218T>C
|
rs2960312
|
0.04272
|
NM_000540.3(RYR1):c.12283-98T>C
|
rs113916872
|
0.04192
|
NM_000540.3(RYR1):c.13671C>G (p.Ser4557=)
|
rs35959206
|
0.04188
|
NM_000540.3(RYR1):c.271-293A>G
|
rs16972602
|
0.04170
|
NM_000540.3(RYR1):c.271-148A>G
|
rs73554209
|
0.04157
|
NM_000540.3(RYR1):c.1245-218C>T
|
rs79884297
|
0.04016
|
NM_000540.3(RYR1):c.270+322A>C
|
rs73552302
|
0.03982
|
NM_000540.3(RYR1):c.4294-125G>T
|
rs77702866
|
0.03956
|
NM_000540.3(RYR1):c.4160+114T>G
|
rs16972639
|
0.03951
|
NM_000540.3(RYR1):c.4293+121T>C
|
rs56942001
|
0.03945
|
NM_000540.3(RYR1):c.4293+166T>C
|
rs60228500
|
0.03945
|
NM_000540.3(RYR1):c.6548+43G>A
|
rs75563090
|
0.03944
|
NM_000540.3(RYR1):c.4293+199A>G
|
rs59112185
|
0.03935
|
NM_000540.3(RYR1):c.10218C>T (p.Tyr3406=)
|
rs41274330
|
0.03876
|
NM_000540.3(RYR1):c.166-163G>C
|
rs78625999
|
0.03796
|
NM_000540.3(RYR1):c.12283-248T>G
|
rs113203778
|
0.03734
|
NM_000540.3(RYR1):c.5815-50C>T
|
rs111928389
|
0.03723
|
NM_000540.3(RYR1):c.3765+154C>G
|
rs76563952
|
0.03563
|
NM_000540.3(RYR1):c.6127+340T>C
|
rs115592936
|
0.03474
|
NM_000540.3(RYR1):c.4454+106T>C
|
rs7259341
|
0.03402
|
NM_000540.3(RYR1):c.4454+29G>A
|
rs7258503
|
0.03325
|
NM_000540.3(RYR1):c.8817-63A>G
|
rs35648526
|
0.03282
|
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.10937+39G>A
|
rs2945049
|
0.03213
|
NM_000540.3(RYR1):c.2578-254A>G
|
rs118128821
|
0.03200
|
NM_000540.3(RYR1):c.2871-5C>T
|
rs45585535
|
0.03110
|
NM_000540.3(RYR1):c.12625-295C>T
|
rs10415792
|
0.03106
|
NM_000540.3(RYR1):c.2787-265A>G
|
rs75609634
|
0.03078
|
NM_000540.3(RYR1):c.7260C>T (p.His2420=)
|
rs12973632
|
0.03031
|
NM_000540.3(RYR1):c.4293+240A>G
|
rs76402039
|
0.02987
|
NM_000540.3(RYR1):c.4107C>T (p.Pro1369=)
|
rs11882640
|
0.02972
|
NM_000540.3(RYR1):c.4294-246C>A
|
rs115758092
|
0.02933
|
NM_000540.3(RYR1):c.3179-153C>T
|
rs74603652
|
0.02895
|
NM_000540.3(RYR1):c.4621-288C>T
|
rs78991837
|
0.02832
|
NM_000540.3(RYR1):c.5112C>T (p.Gly1704=)
|
rs35352076
|
0.02832
|
NM_000540.3(RYR1):c.6548+195T>C
|
rs35968585
|
0.02799
|
NM_000540.3(RYR1):c.1926-174C>G
|
rs113248409
|
0.02786
|
NM_000540.3(RYR1):c.12282+92A>G
|
rs77584892
|
0.02716
|
NM_000540.3(RYR1):c.11259+289T>C
|
rs112592402
|
0.02695
|
NM_000540.3(RYR1):c.9472+140A>G
|
rs16972685
|
0.02646
|
NM_000540.3(RYR1):c.2168-195C>T
|
rs74771916
|
0.02634
|
NM_000540.3(RYR1):c.5547+180C>T
|
rs151180318
|
0.02522
|
NM_000540.3(RYR1):c.9554+101A>G
|
rs78341134
|
0.02502
|
NM_000540.3(RYR1):c.2786+149G>A
|
rs116470911
|
0.02414
|
NM_000540.3(RYR1):c.1577-6C>G
|
rs61586345
|
0.02394
|
NM_000540.3(RYR1):c.2361-42A>G
|
rs115515082
|
0.02347
|
NM_000540.3(RYR1):c.2577+113G>A
|
rs139408813
|
0.02341
|
NM_000540.3(RYR1):c.5622A>G (p.Glu1874=)
|
rs35021937
|
0.02251
|
NM_000540.3(RYR1):c.7615-68C>T
|
rs113858376
|
0.02217
|
NM_000540.3(RYR1):c.11908-25C>G
|
rs2292797
|
0.02197
|
NM_000540.3(RYR1):c.11689+68A>G
|
rs113827482
|
0.02157
|
NM_000540.3(RYR1):c.11754T>A (p.Thr3918=)
|
rs45613041
|
0.02154
|
NM_000540.3(RYR1):c.12012+256T>C
|
rs2292800
|
0.02151
|
NM_000540.3(RYR1):c.11690-235A>G
|
rs113529339
|
0.02149
|
NM_000540.3(RYR1):c.11908-14A>G
|
rs2292799
|
0.02149
|
NM_000540.3(RYR1):c.11142-212C>G
|
rs111798857
|
0.02145
|
NM_000540.3(RYR1):c.11908-23C>T
|
rs2292798
|
0.02144
|
NM_000540.3(RYR1):c.11266C>G (p.Gln3756Glu)
|
rs4802584
|
0.02143
|
NM_000540.3(RYR1):c.11260-19T>G
|
rs4802583
|
0.02140
|
NM_000540.3(RYR1):c.11516+276G>A
|
rs79879493
|
0.02136
|
NM_000540.3(RYR1):c.166-44G>C
|
rs115526671
|
0.02045
|
NM_000540.3(RYR1):c.14804-124C>T
|
rs2907615
|
0.02043
|
NM_000540.3(RYR1):c.4160+79A>C
|
rs114989580
|
0.02043
|
NM_000540.3(RYR1):c.14364+226C>T
|
rs113334338
|
0.01965
|
NM_000540.3(RYR1):c.13503G>A (p.Pro4501=)
|
rs2960319
|
0.01964
|
NM_000540.3(RYR1):c.14173-315C>T
|
rs111409508
|
0.01961
|
NM_000540.3(RYR1):c.10441-49C>T
|
rs59703889
|
0.01878
|
NM_000540.3(RYR1):c.8310+98C>G
|
rs3829976
|
0.01853
|
NM_000540.3(RYR1):c.5547+263C>T
|
rs12982083
|
0.01821
|
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.14647-36G>A
|
rs114134909
|
0.01575
|
NM_000540.3(RYR1):c.11590+212C>A
|
rs138129508
|
0.01520
|
NM_000540.3(RYR1):c.13998+165A>G
|
rs56366421
|
0.01500
|
NM_000540.3(RYR1):c.6275-71T>C
|
rs73930594
|
0.01483
|
NM_000540.2(RYR1):c.-298A>T
|
rs7256843
|
0.01440
|
NM_000540.3(RYR1):c.7835+7C>T
|
rs114522234
|
0.01374
|
NM_000540.3(RYR1):c.12012+18C>A
|
rs116792069
|
0.01340
|
NM_000540.3(RYR1):c.13998+46T>G
|
rs755747390
|
0.01316
|
NM_000540.3(RYR1):c.1245-29C>T
|
rs35839245
|
0.01309
|
NM_000540.2(RYR1):c.-431C>A
|
rs76751392
|
0.01270
|
NM_000540.3(RYR1):c.3766-163C>G
|
rs73930590
|
0.01265
|
NM_000540.3(RYR1):c.6128-170A>G
|
rs77756301
|
0.01259
|
NM_000540.3(RYR1):c.3556+67C>T
|
rs115751347
|
0.01254
|
NM_000540.3(RYR1):c.12012+19T>C
|
rs181590606
|
0.01243
|
NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln)
|
rs55876273
|
0.01228
|
NM_000540.3(RYR1):c.3178+101A>G
|
rs10451435
|
0.01159
|
NM_000540.3(RYR1):c.7836-28dup
|
rs199849275
|
0.01121
|
NM_000540.3(RYR1):c.2787-66G>A
|
rs73044999
|
0.01111
|
NM_000540.3(RYR1):c.6127+99G>A
|
rs114488272
|
0.01064
|
NM_000540.3(RYR1):c.14365-205G>T
|
rs73933026
|
0.01033
|
NM_000540.3(RYR1):c.424+157G>C
|
rs111810050
|
0.01020
|
NM_000540.3(RYR1):c.10825-45G>A
|
rs139337159
|
0.00994
|
NM_000540.3(RYR1):c.11625G>A (p.Ala3875=)
|
rs61729397
|
0.00991
|
NM_000540.3(RYR1):c.10825-105C>T
|
rs73933015
|
0.00985
|
NM_000540.3(RYR1):c.4161-169A>G
|
rs73046907
|
0.00978
|
NM_000540.3(RYR1):c.7737G>A (p.Val2579=)
|
rs114975624
|
0.00971
|
NM_000540.3(RYR1):c.12625-187T>C
|
rs146260773
|
0.00953
|
NM_000540.3(RYR1):c.11590+211del
|
rs1456324897
|
0.00933
|
NM_000540.3(RYR1):c.5547+85A>T
|
rs56120885
|
0.00918
|
NM_000540.3(RYR1):c.5814+279G>A
|
rs148816924
|
0.00918
|
NM_000540.3(RYR1):c.5814+295C>T
|
rs142572821
|
0.00913
|
NM_000540.3(RYR1):c.1440+199G>A
|
rs76785884
|
0.00904
|
NM_000540.3(RYR1):c.2167+322_2167+326del
|
rs1368979448
|
0.00895
|
NM_000540.3(RYR1):c.4621-34C>T
|
rs114935281
|
0.00879
|
NM_000540.3(RYR1):c.9473-267C>G
|
rs138967657
|
0.00879
|
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.2787-77A>T
|
rs143827627
|
0.00867
|
NM_000540.3(RYR1):c.1245-53G>T
|
rs114001930
|
0.00850
|
NM_000540.3(RYR1):c.424+139G>A
|
rs113026709
|
0.00832
|
NM_000540.3(RYR1):c.3382-277A>G
|
rs148637972
|
0.00828
|
NM_000540.3(RYR1):c.2871-227G>A
|
rs145156177
|
0.00825
|
NM_000540.3(RYR1):c.13998+311T>G
|
rs77403332
|
0.00809
|
NM_000540.3(RYR1):c.15022-164G>A
|
rs113806582
|
0.00809
|
NM_000540.3(RYR1):c.9472+119G>C
|
rs10420476
|
0.00806
|
NM_000540.3(RYR1):c.13464G>A (p.Pro4488=)
|
rs10405232
|
0.00800
|
NM_000540.3(RYR1):c.13514+77C>T
|
rs10405261
|
0.00800
|
NM_000540.3(RYR1):c.12741C>T (p.Ala4247=)
|
rs80039127
|
0.00793
|
NM_000540.3(RYR1):c.6797-50A>G
|
rs34812626
|
0.00775
|
NM_000540.3(RYR1):c.906C>T (p.Asp302=)
|
rs145943283
|
0.00765
|
NM_000540.3(RYR1):c.1441-162G>A
|
rs116715161
|
0.00764
|
NM_000540.3(RYR1):c.13438-222G>C
|
rs146906284
|
0.00762
|
NM_000540.3(RYR1):c.3766-34G>A
|
rs116157942
|
0.00728
|
NM_000540.3(RYR1):c.4160+266A>G
|
rs114960702
|
0.00728
|
NM_000540.3(RYR1):c.13746+266C>T
|
rs140356628
|
0.00716
|
NM_000540.3(RYR1):c.9173-154C>T
|
rs13313718
|
0.00696
|
NM_000540.3(RYR1):c.7027+27C>T
|
rs3745851
|
0.00694
|
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.6275-279G>A
|
rs114656643
|
0.00686
|
NM_000540.3(RYR1):c.4055C>G (p.Ala1352Gly)
|
rs112105381
|
0.00685
|
NM_000540.3(RYR1):c.1123-125T>C
|
rs59873209
|
0.00684
|
NM_000540.3(RYR1):c.2577+25T>C
|
rs78124022
|
0.00681
|
NM_000540.3(RYR1):c.3876C>A (p.Leu1292=)
|
rs143750836
|
0.00681
|
NM_000540.3(RYR1):c.2168-30C>T
|
rs73930586
|
0.00680
|
NM_000540.3(RYR1):c.1245-278C>T
|
rs56219260
|
0.00679
|
NM_000540.3(RYR1):c.14647-308C>G
|
rs59394799
|
0.00669
|
NM_000540.3(RYR1):c.2787-41C>G
|
rs144985735
|
0.00648
|
NM_000540.3(RYR1):c.6796+132G>C
|
rs78549624
|
0.00643
|
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.424+159C>G
|
rs139773017
|
0.00600
|
NM_000540.3(RYR1):c.6384C>T (p.Tyr2128=)
|
rs75181912
|
0.00599
|
NM_000540.3(RYR1):c.7027+63G>A
|
rs3745852
|
0.00597
|
NM_000540.3(RYR1):c.2578-222G>T
|
rs73540974
|
0.00592
|
NM_000540.3(RYR1):c.4894C>T (p.Pro1632Ser)
|
rs76537615
|
0.00586
|
NM_000540.3(RYR1):c.-69T>G
|
rs886054377
|
0.00582
|
NM_000540.3(RYR1):c.4621-43C>T
|
rs151232114
|
0.00562
|
NM_000540.3(RYR1):c.5037C>G (p.Arg1679=)
|
rs34169029
|
0.00555
|
NM_000540.3(RYR1):c.9686-201G>A
|
rs147890607
|
0.00555
|
NM_000540.3(RYR1):c.8068-14C>T
|
rs57376136
|
0.00554
|
NM_000540.3(RYR1):c.165+74G>C
|
rs2304145
|
0.00551
|
NM_000540.3(RYR1):c.2360+111A>G
|
rs115461795
|
0.00545
|
NM_000540.3(RYR1):c.9771C>T (p.Ala3257=)
|
rs75991872
|
0.00545
|
NM_000540.3(RYR1):c.2167+170C>T
|
rs73554237
|
0.00537
|
NM_000540.3(RYR1):c.6128-143C>T
|
rs145995242
|
0.00537
|
NM_000540.3(RYR1):c.14647-1494G>A
|
rs144241132
|
0.00533
|
NM_000540.3(RYR1):c.2241G>A (p.Leu747=)
|
rs34097444
|
0.00526
|
NM_000540.3(RYR1):c.8068-35C>T
|
rs200793331
|
0.00525
|
NM_000540.3(RYR1):c.9473-136G>C
|
rs142093535
|
0.00525
|
NM_000540.3(RYR1):c.3765+182C>T
|
rs73540988
|
0.00524
|
NM_000540.3(RYR1):c.12625-163G>A
|
rs139136652
|
0.00521
|
NM_000540.3(RYR1):c.2786+247C>T
|
rs111370077
|
0.00519
|
NM_000540.3(RYR1):c.5565C>T (p.Gly1855=)
|
rs61750975
|
0.00517
|
NM_000540.3(RYR1):c.10938-17A>G
|
rs181147531
|
0.00513
|
NM_000540.3(RYR1):c.11142-151T>A
|
rs148324473
|
0.00510
|
NM_000540.3(RYR1):c.4455-154C>T
|
rs116133611
|
0.00509
|
NM_000540.3(RYR1):c.14130-249G>A
|
rs186700116
|
0.00505
|
NM_000540.3(RYR1):c.8932+57G>T
|
rs116749998
|
0.00504
|
NM_000540.3(RYR1):c.13438-266G>A
|
rs77856572
|
0.00502
|
NM_000540.3(RYR1):c.10627-78G>A
|
rs114016558
|
0.00501
|
NM_000540.3(RYR1):c.14969+16G>A
|
rs145776846
|
0.00501
|
NM_000540.3(RYR1):c.5547+145A>G
|
rs116279285
|
0.00501
|
NM_000540.3(RYR1):c.5814+271C>T
|
rs188586940
|
0.00491
|
NM_000540.3(RYR1):c.873G>A (p.Ala291=)
|
rs2229140
|
0.00484
|
NM_000540.3(RYR1):c.13660-263C>T
|
rs140915822
|
0.00481
|
NC_000019.10:g.38433428C>T
|
rs142610932
|
0.00479
|
NC_000019.10:g.38433516A>G
|
rs114672599
|
0.00479
|
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.12095-158G>A
|
rs180992075
|
0.00476
|
NM_000540.3(RYR1):c.8693-77G>A
|
rs76375997
|
0.00475
|
NM_000540.3(RYR1):c.7614+104G>A
|
rs139344688
|
0.00473
|
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_000540.3(RYR1):c.12013-132A>T
|
rs145757821
|
0.00463
|
NM_000540.3(RYR1):c.4161-296T>C
|
rs143043459
|
0.00463
|
NM_000540.3(RYR1):c.11517-129C>T
|
rs111235642
|
0.00460
|
NM_000540.3(RYR1):c.12588C>T (p.Ile4196=)
|
rs61739895
|
0.00460
|
NM_000540.3(RYR1):c.13514+65C>T
|
rs138124315
|
0.00459
|
NM_000540.3(RYR1):c.11034+20G>T
|
rs186460831
|
0.00456
|
NM_000540.3(RYR1):c.12013-171C>A
|
rs149798609
|
0.00455
|
NM_000540.3(RYR1):c.12013-268C>T
|
rs75811076
|
0.00447
|
NM_000540.3(RYR1):c.13747-137A>G
|
rs189881291
|
0.00443
|
NM_000540.3(RYR1):c.14129+242G>A
|
rs540482244
|
0.00441
|
NM_000540.3(RYR1):c.9122+159A>G
|
rs116008893
|
0.00439
|
NM_000540.3(RYR1):c.6549-326C>T
|
rs144614891
|
0.00431
|
NM_000540.3(RYR1):c.13999-41A>G
|
rs141144440
|
0.00428
|
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.4161-68A>G
|
rs150745225
|
0.00418
|
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.9123-272C>T
|
rs142792817
|
0.00411
|
NM_000540.3(RYR1):c.13998+116C>T
|
rs367918844
|
0.00410
|
NM_000540.3(RYR1):c.11941C>T (p.His3981Tyr)
|
rs148772854
|
0.00409
|
NM_000540.3(RYR1):c.6274+140G>A
|
rs139987834
|
0.00406
|
NM_000540.3(RYR1):c.4621-78C>T
|
rs73542805
|
0.00405
|
NM_000540.3(RYR1):c.1923C>G (p.Thr641=)
|
rs116591968
|
0.00404
|
NM_000540.3(RYR1):c.2870+19G>A
|
rs114529901
|
0.00403
|
NM_000540.3(RYR1):c.12624+192G>A
|
rs150838101
|
0.00399
|
NM_000540.3(RYR1):c.5547+132C>G
|
rs180925407
|
0.00398
|
NM_000540.3(RYR1):c.11908-24C>G
|
rs76698386
|
0.00396
|
NM_000540.3(RYR1):c.14129+201C>T
|
rs144856347
|
0.00394
|
NM_000540.3(RYR1):c.6732G>A (p.Arg2244=)
|
rs78915828
|
0.00390
|
NM_000540.3(RYR1):c.3946C>A (p.Pro1316Thr)
|
rs200894780
|
0.00386
|
NM_000540.3(RYR1):c.1245-305A>G
|
rs116811995
|
0.00384
|
NM_000540.3(RYR1):c.2682+31C>T
|
rs112545072
|
0.00383
|
NM_000540.3(RYR1):c.8932+161G>A
|
rs186944357
|
0.00383
|
NM_000540.3(RYR1):c.1440+73C>T
|
rs572094544
|
0.00371
|
NM_000540.3(RYR1):c.165+136A>G
|
rs149233952
|
0.00364
|
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.5548-258C>T
|
rs191016908
|
0.00331
|
NM_000540.3(RYR1):c.8816+306G>T
|
rs551345639
|
0.00331
|
NM_000540.3(RYR1):c.8932+89C>G
|
rs189653400
|
0.00330
|
NM_000540.3(RYR1):c.10440+21G>C
|
rs190842222
|
0.00329
|
NM_000540.3(RYR1):c.12012+167C>G
|
rs186000941
|
0.00327
|
NM_000540.3(RYR1):c.8693-75C>A
|
rs561434665
|
0.00327
|
NM_000540.3(RYR1):c.1123-318C>T
|
rs151189125
|
0.00325
|
NM_000540.3(RYR1):c.2870+138T>G
|
rs142016637
|
0.00325
|
NM_000540.3(RYR1):c.8827G>A (p.Asp2943Asn)
|
rs79294840
|
0.00325
|
NM_000540.3(RYR1):c.2415T>C (p.Pro805=)
|
rs141881325
|
0.00319
|
NM_000540.3(RYR1):c.9685+16C>T
|
rs45496799
|
0.00312
|
NM_000540.3(RYR1):c.7835+38G>A
|
rs191156697
|
0.00310
|
NM_000540.3(RYR1):c.12956G>A (p.Arg4319Gln)
|
rs539194350
|
0.00306
|
NM_000540.3(RYR1):c.11907+50C>T
|
rs200422653
|
0.00303
|
NM_000540.3(RYR1):c.12869C>T (p.Ala4290Val)
|
rs755065800
|
0.00298
|
NM_000540.3(RYR1):c.425-19A>G
|
rs193169917
|
0.00289
|
NM_000540.3(RYR1):c.8932+143C>T
|
rs182330032
|
0.00284
|
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg)
|
rs137933390
|
0.00282
|
NM_000540.3(RYR1):c.11360-9T>A
|
rs150187840
|
0.00260
|
NM_000540.3(RYR1):c.14647-1887G>A
|
rs146407332
|
0.00248
|
NM_000540.3(RYR1):c.4443C>T (p.Asn1481=)
|
rs141317474
|
0.00246
|
NM_000540.3(RYR1):c.9123-25C>T
|
rs201912985
|
0.00245
|
NM_000540.3(RYR1):c.14130-8C>G
|
rs140808099
|
0.00242
|
NM_000540.3(RYR1):c.216G>T (p.Leu72=)
|
rs113389877
|
0.00227
|
NM_000540.3(RYR1):c.45+32C>A
|
rs142207522
|
0.00223
|
NM_000540.3(RYR1):c.14364+38G>A
|
rs139464203
|
0.00213
|
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.11259+36G>A
|
rs376628384
|
0.00204
|
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.3381+95C>T
|
rs141758809
|
0.00197
|
NM_000540.3(RYR1):c.3557-6C>T
|
rs139849689
|
0.00196
|
NM_000540.3(RYR1):c.9353C>T (p.Ala3118Val)
|
rs2915960
|
0.00188
|
NM_000540.3(RYR1):c.297G>A (p.Thr99=)
|
rs144241486
|
0.00186
|
NM_000540.3(RYR1):c.9555-9G>A
|
rs149569999
|
0.00180
|
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His)
|
rs143987857
|
0.00171
|
NM_000540.3(RYR1):c.6797-48G>A
|
rs375980870
|
0.00171
|
NM_000540.3(RYR1):c.6612C>T (p.His2204=)
|
rs141646642
|
0.00169
|
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_000540.3(RYR1):c.7444+34T>G
|
rs201809210
|
0.00161
|
NM_000540.3(RYR1):c.1245-77C>T
|
rs571954107
|
0.00158
|
NM_000540.3(RYR1):c.2622G>A (p.Ala874=)
|
rs149381996
|
0.00155
|
NM_000540.3(RYR1):c.13746+41A>G
|
rs138865010
|
0.00150
|
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.13847C>A (p.Ala4616Asp)
|
rs59468283
|
0.00140
|
NM_000540.3(RYR1):c.2919C>T (p.His973=)
|
rs139363830
|
0.00140
|
NM_000540.3(RYR1):c.7836-17T>C
|
rs142720065
|
0.00140
|
NM_000540.3(RYR1):c.11193+38T>C
|
rs199664865
|
0.00139
|
NM_000540.3(RYR1):c.2797G>A (p.Ala933Thr)
|
rs148623597
|
0.00137
|
NM_000540.3(RYR1):c.14869-41G>T
|
rs201878600
|
0.00135
|
NM_000540.3(RYR1):c.7615-7G>A
|
rs146159174
|
0.00133
|
NM_000540.3(RYR1):c.11908-21dup
|
rs551474037
|
0.00131
|
NM_000540.3(RYR1):c.4454+49G>C
|
rs73540995
|
0.00126
|
NM_000540.3(RYR1):c.7923C>G (p.Leu2641=)
|
rs142558977
|
0.00126
|
NM_000540.3(RYR1):c.94C>T (p.Leu32Phe)
|
rs138630815
|
0.00125
|
NM_000540.3(RYR1):c.-102C>T
|
rs190259953
|
0.00121
|
NM_000540.3(RYR1):c.725+43G>A
|
rs186166590
|
0.00114
|
NM_000540.3(RYR1):c.9355C>T (p.Arg3119Cys)
|
rs61739911
|
0.00113
|
NM_000540.3(RYR1):c.11517-41G>A
|
rs201032965
|
0.00111
|
NM_000540.3(RYR1):c.725+6G>A
|
rs201679831
|
0.00111
|
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys)
|
rs147136339
|
0.00108
|
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val)
|
rs146429605
|
0.00107
|
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser)
|
rs147213895
|
0.00104
|
NM_000540.3(RYR1):c.3557-74C>T
|
rs3745850
|
0.00103
|
NM_000540.3(RYR1):c.4934+25G>T
|
rs78881293
|
0.00103
|
NM_000540.3(RYR1):c.11439+21T>G
|
rs138842694
|
0.00102
|
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His)
|
rs146504767
|
0.00101
|
NM_000540.3(RYR1):c.2578-23C>G
|
rs2304149
|
0.00093
|
NM_000540.3(RYR1):c.4161-21C>T
|
rs182909318
|
0.00091
|
NM_000540.3(RYR1):c.7836-19C>T
|
rs201378267
|
0.00090
|
NM_000540.3(RYR1):c.2578-50G>A
|
rs376873625
|
0.00089
|
NM_000540.3(RYR1):c.6549-45C>T
|
rs189170845
|
0.00089
|
NM_000540.3(RYR1):c.14130-9T>G
|
rs191894192
|
0.00088
|
NM_000540.3(RYR1):c.4454+27G>T
|
rs111563972
|
0.00088
|
NM_000540.3(RYR1):c.4088C>T (p.Ala1363Val)
|
rs774603798
|
0.00084
|
NM_000540.3(RYR1):c.7860G>A (p.Gln2620=)
|
rs147587000
|
0.00081
|
NM_000540.3(RYR1):c.8692+68C>T
|
rs545330908
|
0.00081
|
NM_000540.3(RYR1):c.14257G>A (p.Ala4753Thr)
|
rs138156449
|
0.00080
|
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.4677C>T (p.Asn1559=)
|
rs186329476
|
0.00076
|
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.5364T>G (p.Ala1788=)
|
rs200950362
|
0.00073
|
NM_000540.3(RYR1):c.2682+24G>A
|
rs200235370
|
0.00071
|
NM_000540.3(RYR1):c.11609-13C>T
|
rs374885508
|
0.00069
|
NM_000540.3(RYR1):c.4902C>G (p.Thr1634=)
|
rs377100871
|
0.00069
|
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.8932+41A>G
|
rs200730524
|
0.00062
|
NM_000540.3(RYR1):c.11321C>T (p.Ala3774Val)
|
rs146361173
|
0.00061
|
NM_000540.3(RYR1):c.443C>T (p.Thr148Ile)
|
rs151325948
|
0.00061
|
NM_000540.3(RYR1):c.9555-7C>G
|
rs376790946
|
0.00061
|
NM_000540.3(RYR1):c.13022C>T (p.Thr4341Met)
|
rs752855919
|
0.00058
|
NM_000540.3(RYR1):c.2682+7G>A
|
rs201498416
|
0.00058
|
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val)
|
rs34390345
|
0.00058
|
NM_000540.3(RYR1):c.14070G>A (p.Thr4690=)
|
rs113058779
|
0.00057
|
NM_000540.3(RYR1):c.2091C>T (p.Ala697=)
|
rs138704724
|
0.00057
|
NM_000540.3(RYR1):c.12012+11C>T
|
rs377621703
|
0.00053
|
NM_000540.3(RYR1):c.12880A>G (p.Thr4294Ala)
|
rs1003914966
|
0.00053
|
NM_000540.3(RYR1):c.3505A>C (p.Met1169Leu)
|
rs139069946
|
0.00051
|
NM_000540.3(RYR1):c.13999-19G>A
|
rs775494152
|
0.00050
|
NM_000540.3(RYR1):c.4074G>A (p.Gly1358=)
|
rs372178862
|
0.00049
|
NM_000540.3(RYR1):c.6387C>T (p.Asp2129=)
|
rs117886618
|
0.00049
|
NM_000540.3(RYR1):c.9261C>T (p.Ile3087=)
|
rs56338790
|
0.00049
|
NM_000540.3(RYR1):c.1152C>T (p.Asp384=)
|
rs149770144
|
0.00047
|
NM_000540.3(RYR1):c.7830C>T (p.Leu2610=)
|
rs140063541
|
0.00046
|
NM_000540.3(RYR1):c.8816+16C>T
|
rs181138438
|
0.00046
|
NM_000540.3(RYR1):c.9262G>A (p.Val3088Met)
|
rs145044872
|
0.00046
|
NM_000540.3(RYR1):c.165+38G>A
|
rs376787989
|
0.00045
|
NM_000540.3(RYR1):c.6585G>A (p.Pro2195=)
|
rs140729728
|
0.00044
|
NM_000540.3(RYR1):c.12203A>G (p.Lys4068Arg)
|
rs114009747
|
0.00043
|
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.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.1440+47G>A
|
rs202063918
|
0.00041
|
NM_000540.3(RYR1):c.10644G>A (p.Glu3548=)
|
rs149417544
|
0.00040
|
NM_000540.3(RYR1):c.10025C>T (p.Ala3342Val)
|
rs201501834
|
0.00039
|
NM_000540.3(RYR1):c.12842G>A (p.Gly4281Glu)
|
rs754173025
|
0.00039
|
NM_000540.3(RYR1):c.12852CACGGCGGC[3] (p.4285TAA[3])
|
rs398123469
|
0.00039
|
NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly)
|
rs199738299
|
0.00038
|
NM_000540.3(RYR1):c.12553G>A (p.Ala4185Thr)
|
rs151119428
|
0.00037
|
NM_000540.3(RYR1):c.1673-30C>T
|
rs368722580
|
0.00037
|
NM_000540.3(RYR1):c.11439+9G>A
|
rs369650355
|
0.00036
|
NM_000540.3(RYR1):c.13863G>A (p.Glu4621=)
|
rs140750876
|
0.00036
|
NM_000540.3(RYR1):c.9555-31C>T
|
rs376800501
|
0.00036
|
NM_000540.3(RYR1):c.12886C>T (p.Arg4296Trp)
|
rs995399684
|
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.14523C>T (p.Thr4841=)
|
rs552223275
|
0.00033
|
NM_000540.3(RYR1):c.7788C>T (p.Thr2596=)
|
rs199636890
|
0.00032
|
NM_000540.3(RYR1):c.13547A>G (p.Glu4516Gly)
|
rs149984626
|
0.00031
|
NM_000540.3(RYR1):c.4026C>A (p.Ser1342Arg)
|
rs182004703
|
0.00031
|
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.7836-25C>T
|
rs201945985
|
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.14091C>T (p.Asp4697=)
|
rs138616455
|
0.00030
|
NM_000540.3(RYR1):c.2634C>T (p.His878=)
|
rs202233201
|
0.00030
|
NM_000540.3(RYR1):c.79G>A (p.Val27Met)
|
rs143481004
|
0.00030
|
NM_000540.3(RYR1):c.1155C>T (p.Asp385=)
|
rs144658230
|
0.00029
|
NM_000540.3(RYR1):c.1598G>A (p.Arg533His)
|
rs144336148
|
0.00029
|
NM_000540.3(RYR1):c.3381C>T (p.Arg1127=)
|
rs200780880
|
0.00029
|
NM_000540.3(RYR1):c.5235G>A (p.Thr1745=)
|
rs149471411
|
0.00029
|
NM_000540.3(RYR1):c.14469G>A (p.Thr4823=)
|
rs371955808
|
0.00026
|
NM_000540.3(RYR1):c.2383C>T (p.Arg795Cys)
|
rs547608972
|
0.00026
|
NM_000540.3(RYR1):c.4115C>T (p.Ala1372Val)
|
rs370966353
|
0.00026
|
NM_000540.3(RYR1):c.5459G>T (p.Arg1820Leu)
|
rs750141316
|
0.00026
|
NM_000540.3(RYR1):c.7102C>G (p.Leu2368Val)
|
rs139498212
|
0.00026
|
NM_000540.3(RYR1):c.6478G>A (p.Gly2160Ser)
|
rs143398211
|
0.00025
|
NM_000540.3(RYR1):c.7026C>T (p.Asn2342=)
|
rs202061237
|
0.00024
|
NM_000540.3(RYR1):c.13477C>G (p.Pro4493Ala)
|
rs149455643
|
0.00023
|
NM_000540.3(RYR1):c.2544C>T (p.Thr848=)
|
rs140374285
|
0.00023
|
NM_000540.3(RYR1):c.3555C>T (p.Asp1185=)
|
rs377282283
|
0.00022
|
NM_000540.3(RYR1):c.4878C>G (p.Ala1626=)
|
rs369466056
|
0.00022
|
NM_000540.3(RYR1):c.5000G>A (p.Arg1667His)
|
rs138978909
|
0.00022
|
NM_000540.3(RYR1):c.548C>T (p.Thr183Ile)
|
rs150038701
|
0.00022
|
NM_000540.3(RYR1):c.6639C>T (p.Asn2213=)
|
rs374630822
|
0.00022
|
NM_000540.3(RYR1):c.10259+38G>A
|
rs192163251
|
0.00021
|
NM_000540.3(RYR1):c.2645C>T (p.Ala882Val)
|
rs143701391
|
0.00021
|
NM_000540.3(RYR1):c.8179G>A (p.Ala2727Thr)
|
rs545688934
|
0.00021
|
NM_000540.3(RYR1):c.13584C>G (p.Pro4528=)
|
rs368826804
|
0.00020
|
NM_000540.3(RYR1):c.1925+35A>G
|
rs549728913
|
0.00020
|
NM_000540.3(RYR1):c.2822C>T (p.Ala941Val)
|
rs748568687
|
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.1123-11C>T
|
rs3745845
|
0.00019
|
NM_000540.3(RYR1):c.13092C>T (p.Gly4364=)
|
rs536323867
|
0.00019
|
NM_000540.3(RYR1):c.2160C>G (p.Leu720=)
|
rs200914778
|
0.00019
|
NM_000540.3(RYR1):c.2320G>A (p.Gly774Arg)
|
rs147918857
|
0.00019
|
NM_000540.3(RYR1):c.2588C>T (p.Pro863Leu)
|
rs145456934
|
0.00019
|
NM_000540.3(RYR1):c.2679C>G (p.Gly893=)
|
rs765657226
|
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.7141G>A (p.Glu2381Lys)
|
rs148426762
|
0.00019
|
NM_000540.3(RYR1):c.7797G>A (p.Gln2599=)
|
rs151309597
|
0.00019
|
NM_000540.3(RYR1):c.8733C>A (p.Leu2911=)
|
rs200427576
|
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.9896G>T (p.Gly3299Val)
|
rs376790408
|
0.00019
|
NM_000540.3(RYR1):c.13254C>A (p.Gly4418=)
|
rs193922857
|
0.00018
|
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_000540.3(RYR1):c.14061G>A (p.Leu4687=)
|
rs201629205
|
0.00017
|
NM_000540.3(RYR1):c.2904G>A (p.Pro968=)
|
rs146651758
|
0.00017
|
NM_000540.3(RYR1):c.5439G>A (p.Arg1813=)
|
rs147424734
|
0.00017
|
NM_000540.3(RYR1):c.7836-7C>T
|
rs370713261
|
0.00017
|
NM_000540.3(RYR1):c.10019-13C>T
|
rs145359160
|
0.00016
|
NM_000540.3(RYR1):c.13263C>T (p.Asp4421=)
|
rs372411922
|
0.00016
|
NM_000540.3(RYR1):c.14919G>A (p.Pro4973=)
|
rs535386378
|
0.00016
|
NM_000540.3(RYR1):c.2319C>T (p.Asp773=)
|
rs374924686
|
0.00016
|
NM_000540.3(RYR1):c.4160+7C>T
|
rs1358439925
|
0.00016
|
NM_000540.3(RYR1):c.4237G>A (p.Asp1413Asn)
|
rs139142846
|
0.00016
|
NM_000540.3(RYR1):c.4257C>T (p.Asn1419=)
|
rs36042816
|
0.00016
|
NM_000540.3(RYR1):c.4847C>T (p.Thr1616Met)
|
rs776194441
|
0.00016
|
NM_000540.3(RYR1):c.6654C>T (p.Gly2218=)
|
rs149185729
|
0.00016
|
NM_000540.3(RYR1):c.6797-9C>T
|
rs191934693
|
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.14304-10G>A
|
rs368201693
|
0.00015
|
NM_000540.3(RYR1):c.2531G>A (p.Cys844Tyr)
|
rs146754847
|
0.00015
|
NM_000540.3(RYR1):c.2767A>G (p.Met923Val)
|
rs149913097
|
0.00015
|
NM_000540.3(RYR1):c.305A>G (p.Tyr102Cys)
|
rs760138384
|
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.10048C>A (p.Arg3350=)
|
rs200355885
|
0.00014
|
NM_000540.3(RYR1):c.10938-4G>A
|
rs374114373
|
0.00014
|
NM_000540.3(RYR1):c.11217G>A (p.Gly3739=)
|
rs148659292
|
0.00014
|
NM_000540.3(RYR1):c.12095-37G>T
|
rs370396026
|
0.00014
|
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp)
|
rs147320363
|
0.00014
|
NM_000540.3(RYR1):c.2676C>T (p.Tyr892=)
|
rs375402078
|
0.00014
|
NM_000540.3(RYR1):c.3095G>A (p.Arg1032His)
|
rs141942845
|
0.00014
|
NM_000540.3(RYR1):c.641C>T (p.Thr214Met)
|
rs727504129
|
0.00014
|
NM_000540.3(RYR1):c.7362C>T (p.Arg2454=)
|
rs369428665
|
0.00014
|
NM_000540.3(RYR1):c.8289C>T (p.His2763=)
|
rs145567931
|
0.00014
|
NM_000540.3(RYR1):c.9090C>T (p.His3030=)
|
rs767704607
|
0.00014
|
NM_000540.3(RYR1):c.9148G>A (p.Val3050Ile)
|
rs200797340
|
0.00014
|
NM_000540.3(RYR1):c.9634G>A (p.Glu3212Lys)
|
rs185371036
|
0.00014
|
NM_000540.3(RYR1):c.10441-10G>A
|
rs200939091
|
0.00013
|
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.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.4743C>T (p.Ser1581=)
|
rs370041876
|
0.00013
|
NM_000540.3(RYR1):c.5548-19C>G
|
rs375020048
|
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.7927-46G>A
|
rs370019431
|
0.00013
|
NM_000540.3(RYR1):c.8079G>A (p.Pro2693=)
|
rs368063600
|
0.00013
|
NM_000540.3(RYR1):c.9152G>A (p.Arg3051His)
|
rs147303895
|
0.00013
|
NM_000540.3(RYR1):c.9466G>A (p.Val3156Ile)
|
rs150230127
|
0.00013
|
NM_000540.3(RYR1):c.9555G>C (p.Lys3185Asn)
|
rs201080180
|
0.00013
|
NM_000540.3(RYR1):c.10018+8G>A
|
rs374138837
|
0.00012
|
NM_000540.3(RYR1):c.13660-10T>C
|
rs188836987
|
0.00012
|
NM_000540.3(RYR1):c.270+10C>T
|
rs775506842
|
0.00012
|
NM_000540.3(RYR1):c.7904A>T (p.Glu2635Val)
|
rs755651622
|
0.00012
|
NM_000540.3(RYR1):c.10281G>A (p.Pro3427=)
|
rs549379396
|
0.00011
|
NM_000540.3(RYR1):c.10344C>T (p.Ser3448=)
|
rs754547795
|
0.00011
|
NM_000540.3(RYR1):c.12966G>A (p.Arg4322=)
|
rs921083301
|
0.00011
|
NM_000540.3(RYR1):c.14196C>A (p.Ile4732=)
|
rs201670423
|
0.00011
|
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met)
|
rs193922879
|
0.00011
|
NM_000540.3(RYR1):c.14606A>C (p.Asp4869Ala)
|
rs781367427
|
0.00011
|
NM_000540.3(RYR1):c.1672+13G>A
|
rs750623971
|
0.00011
|
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)
|
rs118192172
|
0.00011
|
NM_000540.3(RYR1):c.2277C>T (p.Asn759=)
|
rs377182661
|
0.00011
|
NM_000540.3(RYR1):c.2366G>A (p.Arg789Gln)
|
rs200069592
|
0.00011
|
NM_000540.3(RYR1):c.2578-17C>T
|
rs372713950
|
0.00011
|
NM_000540.3(RYR1):c.2786+45G>A
|
rs111329688
|
0.00011
|
NM_000540.3(RYR1):c.4378G>A (p.Asp1460Asn)
|
rs753735721
|
0.00011
|
NM_000540.3(RYR1):c.5046C>T (p.His1682=)
|
rs188554722
|
0.00011
|
NM_000540.3(RYR1):c.5479C>T (p.Arg1827Cys)
|
rs746110626
|
0.00011
|
NM_000540.3(RYR1):c.6548+10C>T
|
rs368922705
|
0.00011
|
NM_000540.3(RYR1):c.6600G>A (p.Ala2200=)
|
rs375640581
|
0.00011
|
NM_000540.3(RYR1):c.7835+16C>T
|
rs547949606
|
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.10938-16C>T
|
rs575684453
|
0.00010
|
NM_000540.3(RYR1):c.11142-19C>T
|
rs747769383
|
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.2786+20G>A
|
rs71337552
|
0.00010
|
NM_000540.3(RYR1):c.3548T>C (p.Ile1183Thr)
|
rs761386401
|
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.10042C>T (p.Arg3348Cys)
|
rs118204421
|
0.00009
|
NM_000540.3(RYR1):c.10664A>T (p.Asn3555Ile)
|
rs199689862
|
0.00009
|
NM_000540.3(RYR1):c.10824+8G>A
|
rs374325589
|
0.00009
|
NM_000540.3(RYR1):c.12672C>T (p.Gly4224=)
|
rs141678912
|
0.00009
|
NM_000540.3(RYR1):c.12978C>T (p.Arg4326=)
|
rs932480729
|
0.00009
|
NM_000540.3(RYR1):c.13035C>T (p.Ala4345=)
|
rs898175740
|
0.00009
|
NM_000540.3(RYR1):c.13480G>A (p.Glu4494Lys)
|
rs143849895
|
0.00009
|
NM_000540.3(RYR1):c.13849G>A (p.Gly4617Arg)
|
rs202226983
|
0.00009
|
NM_000540.3(RYR1):c.15015G>A (p.Thr5005=)
|
rs2229149
|
0.00009
|
NM_000540.3(RYR1):c.15084T>C (p.Cys5028=)
|
rs758735802
|
0.00009
|
NM_000540.3(RYR1):c.1593C>T (p.Gly531=)
|
rs927675372
|
0.00009
|
NM_000540.3(RYR1):c.2601G>A (p.Glu867=)
|
rs762533729
|
0.00009
|
NM_000540.3(RYR1):c.3351C>T (p.Asp1117=)
|
rs151182947
|
0.00009
|
NM_000540.3(RYR1):c.4185C>T (p.Val1395=)
|
rs761955179
|
0.00009
|
NM_000540.3(RYR1):c.4763C>T (p.Pro1588Leu)
|
rs151029675
|
0.00009
|
NM_000540.3(RYR1):c.4910C>T (p.Ala1637Val)
|
rs569890286
|
0.00009
|
NM_000540.3(RYR1):c.5321C>T (p.Pro1774Leu)
|
rs199837883
|
0.00009
|
NM_000540.3(RYR1):c.6549-9C>T
|
rs370994573
|
0.00009
|
NM_000540.3(RYR1):c.7869G>A (p.Leu2623=)
|
rs375632461
|
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.11412C>T (p.Leu3804=)
|
rs376851030
|
0.00008
|
NM_000540.3(RYR1):c.11518G>A (p.Val3840Ile)
|
rs140616359
|
0.00008
|
NM_000540.3(RYR1):c.11608+10C>T
|
rs371611286
|
0.00008
|
NM_000540.3(RYR1):c.12345A>C (p.Glu4115Asp)
|
rs148923077
|
0.00008
|
NM_000540.3(RYR1):c.12428C>T (p.Ala4143Val)
|
rs760743396
|
0.00008
|
NM_000540.3(RYR1):c.13190C>G (p.Ala4397Gly)
|
rs1057520588
|
0.00008
|
NM_000540.3(RYR1):c.13686C>T (p.Thr4562=)
|
rs765716844
|
0.00008
|
NM_000540.3(RYR1):c.13747-15C>T
|
rs371981114
|
0.00008
|
NM_000540.3(RYR1):c.13927G>A (p.Ala4643Thr)
|
rs200286252
|
0.00008
|
NM_000540.3(RYR1):c.1661A>G (p.Glu554Gly)
|
rs760285455
|
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.4455-17del
|
rs766608487
|
0.00008
|
NM_000540.3(RYR1):c.4747C>T (p.Arg1583Cys)
|
rs754476250
|
0.00008
|
NM_000540.3(RYR1):c.4848G>A (p.Thr1616=)
|
rs377664365
|
0.00008
|
NM_000540.3(RYR1):c.5289G>A (p.Pro1763=)
|
rs376482004
|
0.00008
|
NM_000540.3(RYR1):c.5548-17G>A
|
rs201386811
|
0.00008
|
NM_000540.3(RYR1):c.758C>T (p.Thr253Ile)
|
rs749073447
|
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_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.10476A>G (p.Glu3492=)
|
rs767496164
|
0.00007
|
NM_000540.3(RYR1):c.11260-13C>T
|
rs540088883
|
0.00007
|
NM_000540.3(RYR1):c.11477G>T (p.Gly3826Val)
|
rs1393018982
|
0.00007
|
NM_000540.3(RYR1):c.12360A>G (p.Glu4120=)
|
rs758071179
|
0.00007
|
NM_000540.3(RYR1):c.12629A>G (p.Lys4210Arg)
|
rs138932463
|
0.00007
|
NM_000540.3(RYR1):c.12841G>A (p.Gly4281Arg)
|
rs1131691504
|
0.00007
|
NM_000540.3(RYR1):c.12847G>A (p.Glu4283Lys)
|
rs794728692
|
0.00007
|
NM_000540.3(RYR1):c.1286C>T (p.Pro429Leu)
|
rs201054455
|
0.00007
|
NM_000540.3(RYR1):c.12888G>C (p.Arg4296=)
|
rs571850239
|
0.00007
|
NM_000540.3(RYR1):c.13603G>A (p.Glu4535Lys)
|
rs141444745
|
0.00007
|
NM_000540.3(RYR1):c.14168G>A (p.Arg4723His)
|
rs200766617
|
0.00007
|
NM_000540.3(RYR1):c.14304-11C>T
|
rs374065822
|
0.00007
|
NM_000540.3(RYR1):c.1800C>T (p.Asp600=)
|
rs374489703
|
0.00007
|
NM_000540.3(RYR1):c.2251G>A (p.Val751Met)
|
rs767667578
|
0.00007
|
NM_000540.3(RYR1):c.2681C>T (p.Pro894Leu)
|
rs758631999
|
0.00007
|
NM_000540.3(RYR1):c.2812G>A (p.Val938Met)
|
rs369182023
|
0.00007
|
NM_000540.3(RYR1):c.3311C>T (p.Ala1104Val)
|
rs149096607
|
0.00007
|
NM_000540.3(RYR1):c.3495C>T (p.Gly1165=)
|
rs772616442
|
0.00007
|
NM_000540.3(RYR1):c.4489G>A (p.Gly1497Arg)
|
rs367637223
|
0.00007
|
NM_000540.3(RYR1):c.4887C>T (p.Cys1629=)
|
rs748152641
|
0.00007
|
NM_000540.3(RYR1):c.5637C>T (p.Asp1879=)
|
rs143418190
|
0.00007
|
NM_000540.3(RYR1):c.631+10C>G
|
rs1194395006
|
0.00007
|
NM_000540.3(RYR1):c.6670C>T (p.Arg2224Cys)
|
rs199870223
|
0.00007
|
NM_000540.3(RYR1):c.6796+12C>T
|
rs774845187
|
0.00007
|
NM_000540.3(RYR1):c.6892-11T>C
|
rs138843395
|
0.00007
|
NM_000540.3(RYR1):c.7028-8G>A
|
rs147390699
|
0.00007
|
NM_000540.3(RYR1):c.7208G>A (p.Arg2403His)
|
rs749136416
|
0.00007
|
NM_000540.3(RYR1):c.7230G>A (p.Pro2410=)
|
rs776145819
|
0.00007
|
NM_000540.3(RYR1):c.8904C>A (p.Asp2968Glu)
|
rs759530203
|
0.00007
|
NM_000540.3(RYR1):c.9001-14C>A
|
rs376195123
|
0.00007
|
NM_000540.3(RYR1):c.9800C>T (p.Pro3267Leu)
|
rs200375946
|
0.00007
|
NM_000540.3(RYR1):c.10219G>A (p.Ala3407Thr)
|
rs143533100
|
0.00006
|
NM_000540.3(RYR1):c.10274C>T (p.Thr3425Met)
|
rs150977342
|
0.00006
|
NM_000540.3(RYR1):c.10280C>T (p.Pro3427Leu)
|
rs775773632
|
0.00006
|
NM_000540.3(RYR1):c.10282A>G (p.Asn3428Asp)
|
rs763976533
|
0.00006
|
NM_000540.3(RYR1):c.10347C>T (p.His3449=)
|
rs373702420
|
0.00006
|
NM_000540.3(RYR1):c.10440+7G>A
|
rs750987143
|
0.00006
|
NM_000540.3(RYR1):c.10442C>T (p.Ala3481Val)
|
rs370630840
|
0.00006
|
NM_000540.3(RYR1):c.10492C>G (p.Arg3498Gly)
|
rs201358408
|
0.00006
|
NM_000540.3(RYR1):c.10584C>T (p.Thr3528=)
|
rs142340057
|
0.00006
|
NM_000540.3(RYR1):c.10601C>T (p.Thr3534Met)
|
rs146914779
|
0.00006
|
NM_000540.3(RYR1):c.10803C>T (p.Ala3601=)
|
rs141542477
|
0.00006
|
NM_000540.3(RYR1):c.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.1105G>A (p.Gly369Ser)
|
rs570010656
|
0.00006
|
NM_000540.3(RYR1):c.11070G>A (p.Val3690=)
|
rs753071672
|
0.00006
|
NM_000540.3(RYR1):c.114C>T (p.Ala38=)
|
rs150794120
|
0.00006
|
NM_000540.3(RYR1):c.11556C>T (p.Ala3852=)
|
rs142947855
|
0.00006
|
NM_000540.3(RYR1):c.1172G>A (p.Arg391His)
|
rs769387053
|
0.00006
|
NM_000540.3(RYR1):c.12237C>T (p.Tyr4079=)
|
rs767437406
|
0.00006
|
NM_000540.3(RYR1):c.12398A>G (p.Glu4133Gly)
|
rs201321695
|
0.00006
|
NM_000540.3(RYR1):c.12560G>A (p.Arg4187His)
|
rs767099429
|
0.00006
|
NM_000540.3(RYR1):c.13056G>A (p.Ala4352=)
|
rs1361659903
|
0.00006
|
NM_000540.3(RYR1):c.13350G>A (p.Gly4450=)
|
rs748743312
|
0.00006
|
NM_000540.3(RYR1):c.13568A>G (p.Lys4523Arg)
|
rs762657816
|
0.00006
|
NM_000540.3(RYR1):c.13866C>T (p.Gly4622=)
|
rs370369058
|
0.00006
|
NM_000540.3(RYR1):c.14203C>T (p.Arg4735Trp)
|
rs766887342
|
0.00006
|
NM_000540.3(RYR1):c.14451C>T (p.Ile4817=)
|
rs200442804
|
0.00006
|
NM_000540.3(RYR1):c.14647-10C>T
|
rs780321710
|
0.00006
|
NM_000540.3(RYR1):c.14901C>G (p.Asp4967Glu)
|
rs201712715
|
0.00006
|
NM_000540.3(RYR1):c.14915C>T (p.Thr4972Ile)
|
rs199866740
|
0.00006
|
NM_000540.3(RYR1):c.152C>A (p.Thr51Asn)
|
rs193922749
|
0.00006
|
NM_000540.3(RYR1):c.1576+4G>A
|
rs374299527
|
0.00006
|
NM_000540.3(RYR1):c.1577-16C>T
|
rs373940206
|
0.00006
|
NM_000540.3(RYR1):c.162G>A (p.Ala54=)
|
rs769042961
|
0.00006
|
NM_000540.3(RYR1):c.2256G>A (p.Pro752=)
|
rs149649489
|
0.00006
|
NM_000540.3(RYR1):c.2356G>A (p.Val786Ile)
|
rs369281291
|
0.00006
|
NM_000540.3(RYR1):c.2361-19A>G
|
rs376351727
|
0.00006
|
NM_000540.3(RYR1):c.2594A>T (p.His865Leu)
|
rs371862065
|
0.00006
|
NM_000540.3(RYR1):c.2603G>A (p.Arg868His)
|
rs750938678
|
0.00006
|
NM_000540.3(RYR1):c.264C>T (p.Gly88=)
|
rs190919088
|
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.2956C>T (p.Arg986Cys)
|
rs150993059
|
0.00006
|
NM_000540.3(RYR1):c.2998G>A (p.Val1000Met)
|
rs138209392
|
0.00006
|
NM_000540.3(RYR1):c.3156C>T (p.Ile1052=)
|
rs368131832
|
0.00006
|
NM_000540.3(RYR1):c.3389G>A (p.Arg1130His)
|
rs371498385
|
0.00006
|
NM_000540.3(RYR1):c.3619G>A (p.Val1207Met)
|
rs760235443
|
0.00006
|
NM_000540.3(RYR1):c.3951C>T (p.Pro1317=)
|
rs745447236
|
0.00006
|
NM_000540.3(RYR1):c.4038C>A (p.Asn1346Lys)
|
rs777049924
|
0.00006
|
NM_000540.3(RYR1):c.4416G>A (p.Thr1472=)
|
rs756225550
|
0.00006
|
NM_000540.3(RYR1):c.4620+13C>T
|
rs201971363
|
0.00006
|
NM_000540.3(RYR1):c.4865G>A (p.Arg1622Gln)
|
rs780579604
|
0.00006
|
NM_000540.3(RYR1):c.537+12C>T
|
rs779869638
|
0.00006
|
NM_000540.3(RYR1):c.5384C>T (p.Pro1795Leu)
|
rs141379562
|
0.00006
|
NM_000540.3(RYR1):c.5385G>C (p.Pro1795=)
|
rs772422894
|
0.00006
|
NM_000540.3(RYR1):c.5921G>A (p.Arg1974Gln)
|
rs748907487
|
0.00006
|
NM_000540.3(RYR1):c.5991G>A (p.Glu1997=)
|
rs372998308
|
0.00006
|
NM_000540.3(RYR1):c.6128-14T>C
|
rs745995901
|
0.00006
|
NM_000540.3(RYR1):c.6208G>A (p.Val2070Met)
|
rs749274175
|
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.6756C>A (p.Asp2252Glu)
|
rs750513397
|
0.00006
|
NM_000540.3(RYR1):c.6796+13G>A
|
rs369828153
|
0.00006
|
NM_000540.3(RYR1):c.6796G>C (p.Gly2266Arg)
|
rs772803714
|
0.00006
|
NM_000540.3(RYR1):c.6891+3G>T
|
rs373333757
|
0.00006
|
NM_000540.3(RYR1):c.7028-11C>T
|
rs369342449
|
0.00006
|
NM_000540.3(RYR1):c.7092C>T (p.Phe2364=)
|
rs369456396
|
0.00006
|
NM_000540.3(RYR1):c.7229C>T (p.Pro2410Leu)
|
rs145787667
|
0.00006
|
NM_000540.3(RYR1):c.7299C>T (p.Leu2433=)
|
rs564179468
|
0.00006
|
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)
|
rs121918593
|
0.00006
|
NM_000540.3(RYR1):c.7344T>C (p.Gly2448=)
|
rs199813873
|
0.00006
|
NM_000540.3(RYR1):c.7487C>T (p.Pro2496Leu)
|
rs193922817
|
0.00006
|
NM_000540.3(RYR1):c.7560C>T (p.His2520=)
|
rs749322590
|
0.00006
|
NM_000540.3(RYR1):c.7614+16C>T
|
rs557965577
|
0.00006
|
NM_000540.3(RYR1):c.7650G>A (p.Leu2550=)
|
rs367825019
|
0.00006
|
NM_000540.3(RYR1):c.7839C>T (p.Tyr2613=)
|
rs758413758
|
0.00006
|
NM_000540.3(RYR1):c.7965C>T (p.Tyr2655=)
|
rs372013629
|
0.00006
|
NM_000540.3(RYR1):c.7992C>T (p.Phe2664=)
|
rs150620191
|
0.00006
|
NM_000540.3(RYR1):c.8310+18C>T
|
rs375895499
|
0.00006
|
NM_000540.3(RYR1):c.8959G>C (p.Glu2987Gln)
|
rs368065870
|
0.00006
|
NM_000540.3(RYR1):c.9472C>T (p.Leu3158=)
|
rs770942162
|
0.00006
|
NM_000540.3(RYR1):c.9554+8G>A
|
rs375627885
|
0.00006
|
NM_000540.3(RYR1):c.9555-10C>T
|
rs774666035
|
0.00006
|
NM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp)
|
rs587784379
|
0.00006
|
NM_000540.3(RYR1):c.9686-15G>A
|
rs551076978
|
0.00006
|
NM_000540.3(RYR1):c.9731C>T (p.Pro3244Leu)
|
rs966321446
|
0.00006
|
NM_000540.3(RYR1):c.9758T>C (p.Ile3253Thr)
|
rs375626634
|
0.00006
|
NM_000540.3(RYR1):c.9772G>A (p.Glu3258Lys)
|
rs754431075
|
0.00006
|
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly)
|
rs367543058
|
0.00005
|
NM_000540.3(RYR1):c.10359C>T (p.Arg3453=)
|
rs376830015
|
0.00005
|
NM_000540.3(RYR1):c.10362G>A (p.Glu3454=)
|
rs772039551
|
0.00005
|
NM_000540.3(RYR1):c.11193+10del
|
rs758829487
|
0.00005
|
NM_000540.3(RYR1):c.11269A>G (p.Met3757Val)
|
rs189249768
|
0.00005
|
NM_000540.3(RYR1):c.12242C>T (p.Thr4081Met)
|
rs373406011
|
0.00005
|
NM_000540.3(RYR1):c.14157G>A (p.Lys4719=)
|
rs776586662
|
0.00005
|
NM_000540.3(RYR1):c.14283G>A (p.Pro4761=)
|
rs201157293
|
0.00005
|
NM_000540.3(RYR1):c.14344G>A (p.Gly4782Arg)
|
rs746538672
|
0.00005
|
NM_000540.3(RYR1):c.14563G>T (p.Val4855Leu)
|
rs528225943
|
0.00005
|
NM_000540.3(RYR1):c.14602G>A (p.Glu4868Lys)
|
rs187569997
|
0.00005
|
NM_000540.3(RYR1):c.1883G>A (p.Arg628His)
|
rs780833516
|
0.00005
|
NM_000540.3(RYR1):c.1956G>A (p.Ala652=)
|
rs202105428
|
0.00005
|
NM_000540.3(RYR1):c.2199G>C (p.Gly733=)
|
rs749285937
|
0.00005
|
NM_000540.3(RYR1):c.2500C>T (p.Arg834Trp)
|
rs140686309
|
0.00005
|
NM_000540.3(RYR1):c.2578-16G>A
|
rs543755729
|
0.00005
|
NM_000540.3(RYR1):c.2835G>A (p.Ala945=)
|
rs576990255
|
0.00005
|
NM_000540.3(RYR1):c.2996G>A (p.Arg999His)
|
rs180714609
|
0.00005
|
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp)
|
rs118192173
|
0.00005
|
NM_000540.3(RYR1):c.3352G>A (p.Glu1118Lys)
|
rs578234912
|
0.00005
|
NM_000540.3(RYR1):c.3379C>T (p.Arg1127Cys)
|
rs753701890
|
0.00005
|
NM_000540.3(RYR1):c.340C>T (p.Arg114Cys)
|
rs756343485
|
0.00005
|
NM_000540.3(RYR1):c.3442G>A (p.Val1148Ile)
|
rs201174268
|
0.00005
|
NM_000540.3(RYR1):c.3966C>G (p.Ala1322=)
|
rs747575568
|
0.00005
|
NM_000540.3(RYR1):c.396C>T (p.Phe132=)
|
rs376494617
|
0.00005
|
NM_000540.3(RYR1):c.4113G>C (p.Arg1371Ser)
|
rs551509462
|
0.00005
|
NM_000540.3(RYR1):c.4236C>G (p.His1412Gln)
|
rs146206507
|
0.00005
|
NM_000540.3(RYR1):c.4306G>A (p.Val1436Met)
|
rs200289457
|
0.00005
|
NM_000540.3(RYR1):c.4346C>T (p.Ala1449Val)
|
rs775455157
|
0.00005
|
NM_000540.3(RYR1):c.4632C>T (p.Asn1544=)
|
rs570920139
|
0.00005
|
NM_000540.3(RYR1):c.4931A>G (p.Asn1644Ser)
|
rs1057519109
|
0.00005
|
NM_000540.3(RYR1):c.538-20C>T
|
rs546750776
|
0.00005
|
NM_000540.3(RYR1):c.5487C>T (p.Pro1829=)
|
rs145224633
|
0.00005
|
NM_000540.3(RYR1):c.5815-17C>T
|
rs768231298
|
0.00005
|
NM_000540.3(RYR1):c.5961C>T (p.Thr1987=)
|
rs775804652
|
0.00005
|
NM_000540.3(RYR1):c.6201G>A (p.Leu2067=)
|
rs149243437
|
0.00005
|
NM_000540.3(RYR1):c.6418C>T (p.Arg2140Trp)
|
rs750275456
|
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.7059G>T (p.Val2353=)
|
rs777800935
|
0.00005
|
NM_000540.3(RYR1):c.7153C>T (p.Arg2385Cys)
|
rs202111332
|
0.00005
|
NM_000540.3(RYR1):c.767G>A (p.Arg256His)
|
rs772767943
|
0.00005
|
NM_000540.3(RYR1):c.7699C>T (p.Pro2567Ser)
|
rs374982449
|
0.00005
|
NM_000540.3(RYR1):c.7720C>T (p.His2574Tyr)
|
rs144203769
|
0.00005
|
NM_000540.3(RYR1):c.7800T>C (p.Arg2600=)
|
rs762682222
|
0.00005
|
NM_000540.3(RYR1):c.7809C>T (p.Ile2603=)
|
rs200542387
|
0.00005
|
NM_000540.3(RYR1):c.7827G>A (p.Ser2609=)
|
rs201827284
|
0.00005
|
NM_000540.3(RYR1):c.7835+8G>A
|
rs771256507
|
0.00005
|
NM_000540.3(RYR1):c.7844G>A (p.Arg2615His)
|
rs145183043
|
0.00005
|
NM_000540.3(RYR1):c.7854G>A (p.Met2618Ile)
|
rs775112172
|
0.00005
|
NM_000540.3(RYR1):c.8162C>T (p.Ser2721Phe)
|
rs781377124
|
0.00005
|
NM_000540.3(RYR1):c.8692+132G>A
|
rs777515990
|
0.00005
|
NM_000540.3(RYR1):c.8816+4C>T
|
rs746537111
|
0.00005
|
NM_000540.3(RYR1):c.8880G>C (p.Leu2960=)
|
rs763905757
|
0.00005
|
NM_000540.3(RYR1):c.8933-42C>T
|
rs374612710
|
0.00005
|
NM_000540.3(RYR1):c.9147C>T (p.Leu3049=)
|
rs370445615
|
0.00005
|
NM_000540.3(RYR1):c.9233+10T>C
|
rs754695371
|
0.00005
|
NM_000540.3(RYR1):c.9234-14C>T
|
rs762022473
|
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.9555-4C>T
|
rs1417337927
|
0.00005
|
NM_000540.3(RYR1):c.9701A>G (p.Asn3234Ser)
|
rs539829239
|
0.00005
|
NM_000540.3(RYR1):c.10292C>T (p.Ala3431Val)
|
rs561605726
|
0.00004
|
NM_000540.3(RYR1):c.10308G>A (p.Arg3436=)
|
rs765853789
|
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.10505G>A (p.Arg3502Gln)
|
rs369422480
|
0.00004
|
NM_000540.3(RYR1):c.10520C>T (p.Thr3507Met)
|
rs371839408
|
0.00004
|
NM_000540.3(RYR1):c.10917G>A (p.Thr3639=)
|
rs371952058
|
0.00004
|
NM_000540.3(RYR1):c.10960C>T (p.Leu3654=)
|
rs1466562810
|
0.00004
|
NM_000540.3(RYR1):c.11023G>C (p.Asp3675His)
|
rs145026307
|
0.00004
|
NM_000540.3(RYR1):c.11440-12C>T
|
rs368822008
|
0.00004
|
NM_000540.3(RYR1):c.11440-17T>C
|
rs772090236
|
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.11778+3G>C
|
rs758215068
|
0.00004
|
NM_000540.3(RYR1):c.12028G>A (p.Glu4010Lys)
|
rs755088027
|
0.00004
|
NM_000540.3(RYR1):c.12099C>T (p.Asn4033=)
|
rs201642412
|
0.00004
|
NM_000540.3(RYR1):c.12210T>G (p.Ile4070Met)
|
rs765758001
|
0.00004
|
NM_000540.3(RYR1):c.12283-9C>T
|
rs558809224
|
0.00004
|
NM_000540.3(RYR1):c.12310G>A (p.Gly4104Ser)
|
rs769120898
|
0.00004
|
NM_000540.3(RYR1):c.12324G>C (p.Gln4108His)
|
rs762061959
|
0.00004
|
NM_000540.3(RYR1):c.12348G>A (p.Ala4116=)
|
rs753882985
|
0.00004
|
NM_000540.3(RYR1):c.1250T>C (p.Leu417Pro)
|
rs764262446
|
0.00004
|
NM_000540.3(RYR1):c.12523C>G (p.Pro4175Ala)
|
rs776736001
|
0.00004
|
NM_000540.3(RYR1):c.12786C>T (p.Asp4262=)
|
rs372770916
|
0.00004
|
NM_000540.3(RYR1):c.12810_12818del (p.4271GAE[1])
|
rs759582696
|
0.00004
|
NM_000540.3(RYR1):c.12813C>T (p.Gly4271=)
|
rs750757411
|
0.00004
|
NM_000540.3(RYR1):c.12823G>A (p.Ala4275Thr)
|
rs761125496
|
0.00004
|
NM_000540.3(RYR1):c.12910G>A (p.Ala4304Thr)
|
rs959143903
|
0.00004
|
NM_000540.3(RYR1):c.13015G>C (p.Ala4339Pro)
|
rs1064797241
|
0.00004
|
NM_000540.3(RYR1):c.13242C>G (p.Asp4414Glu)
|
rs994374423
|
0.00004
|
NM_000540.3(RYR1):c.13269G>A (p.Glu4423=)
|
rs896569937
|
0.00004
|
NM_000540.3(RYR1):c.13465C>T (p.Pro4489Ser)
|
rs781766697
|
0.00004
|
NM_000540.3(RYR1):c.13498G>A (p.Glu4500Lys)
|
rs752192756
|
0.00004
|
NM_000540.3(RYR1):c.13623C>G (p.Phe4541Leu)
|
rs777869263
|
0.00004
|
NM_000540.3(RYR1):c.13760C>T (p.Pro4587Leu)
|
rs143520367
|
0.00004
|
NM_000540.3(RYR1):c.13886T>C (p.Val4629Ala)
|
rs758162737
|
0.00004
|
NM_000540.3(RYR1):c.13934G>A (p.Arg4645Gln)
|
rs193922860
|
0.00004
|
NM_000540.3(RYR1):c.13998+3G>A
|
rs765404523
|
0.00004
|
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met)
|
rs118192140
|
0.00004
|
NM_000540.3(RYR1):c.14343C>T (p.Phe4781=)
|
rs772641878
|
0.00004
|
NM_000540.3(RYR1):c.14365-7C>T
|
rs760651051
|
0.00004
|
NM_000540.3(RYR1):c.14449A>G (p.Ile4817Val)
|
rs143988412
|
0.00004
|
NM_000540.3(RYR1):c.14468C>T (p.Thr4823Met)
|
rs148540135
|
0.00004
|
NM_000540.3(RYR1):c.14511+3G>A
|
rs775443082
|
0.00004
|
NM_000540.3(RYR1):c.14538G>C (p.Ala4846=)
|
rs763954439
|
0.00004
|
NM_000540.3(RYR1):c.14667C>T (p.Tyr4889=)
|
rs193922887
|
0.00004
|
NM_000540.3(RYR1):c.14700C>T (p.Asp4900=)
|
rs759063883
|
0.00004
|
NM_000540.3(RYR1):c.14724C>T (p.Asp4908=)
|
rs756511525
|
0.00004
|
NM_000540.3(RYR1):c.14814C>T (p.Ile4938=)
|
rs118192159
|
0.00004
|
NM_000540.3(RYR1):c.14912C>T (p.Thr4971Met)
|
rs779835717
|
0.00004
|
NM_000540.3(RYR1):c.14969+12C>T
|
rs373040491
|
0.00004
|
NM_000540.3(RYR1):c.1735G>A (p.Glu579Lys)
|
rs753907367
|
0.00004
|
NM_000540.3(RYR1):c.1768G>T (p.Asp590Tyr)
|
rs552148844
|
0.00004
|
NM_000540.3(RYR1):c.177C>T (p.Pro59=)
|
rs201938317
|
0.00004
|
NM_000540.3(RYR1):c.1791+14C>T
|
rs376723537
|
0.00004
|
NM_000540.3(RYR1):c.181C>G (p.Leu61Val)
|
rs769890047
|
0.00004
|
NM_000540.3(RYR1):c.1841G>A (p.Arg614His)
|
rs193922772
|
0.00004
|
NM_000540.3(RYR1):c.1926-29C>G
|
rs746430046
|
0.00004
|
NM_000540.3(RYR1):c.1952G>A (p.Arg651Gln)
|
rs567997185
|
0.00004
|
NM_000540.3(RYR1):c.1955C>T (p.Ala652Val)
|
rs757908433
|
0.00004
|
NM_000540.3(RYR1):c.2074A>G (p.Thr692Ala)
|
rs763679528
|
0.00004
|
NM_000540.3(RYR1):c.2167+9C>T
|
rs573737900
|
0.00004
|
NM_000540.3(RYR1):c.2456G>A (p.Arg819Gln)
|
rs752831432
|
0.00004
|
NM_000540.3(RYR1):c.2467G>C (p.Glu823Gln)
|
rs370490388
|
0.00004
|
NM_000540.3(RYR1):c.251C>T (p.Thr84Met)
|
rs186983396
|
0.00004
|
NM_000540.3(RYR1):c.2527C>T (p.Arg843Cys)
|
rs750233243
|
0.00004
|
NM_000540.3(RYR1):c.2631C>T (p.Ile877=)
|
rs777656283
|
0.00004
|
NM_000540.3(RYR1):c.2653C>T (p.Arg885Cys)
|
rs775256033
|
0.00004
|
NM_000540.3(RYR1):c.2659G>A (p.Glu887Lys)
|
rs766827383
|
0.00004
|
NM_000540.3(RYR1):c.283G>A (p.Gly95Arg)
|
rs768518462
|
0.00004
|
NM_000540.3(RYR1):c.2920G>A (p.Val974Met)
|
rs748676912
|
0.00004
|
NM_000540.3(RYR1):c.3021C>T (p.Ser1007=)
|
rs143891703
|
0.00004
|
NM_000540.3(RYR1):c.3043C>T (p.Arg1015Cys)
|
rs139006437
|
0.00004
|
NM_000540.3(RYR1):c.3108C>A (p.Asp1036Glu)
|
rs759317223
|
0.00004
|
NM_000540.3(RYR1):c.3144C>T (p.Tyr1048=)
|
rs143242075
|
0.00004
|
NM_000540.3(RYR1):c.3208C>T (p.Arg1070Trp)
|
rs368950468
|
0.00004
|
NM_000540.3(RYR1):c.3209G>A (p.Arg1070Gln)
|
rs777962787
|
0.00004
|
NM_000540.3(RYR1):c.3380G>A (p.Arg1127His)
|
rs545579559
|
0.00004
|
NM_000540.3(RYR1):c.3489C>G (p.Leu1163=)
|
rs151086215
|
0.00004
|
NM_000540.3(RYR1):c.3567C>T (p.Pro1189=)
|
rs200161205
|
0.00004
|
NM_000540.3(RYR1):c.3568G>A (p.Val1190Ile)
|
rs749283427
|
0.00004
|
NM_000540.3(RYR1):c.3666C>T (p.Phe1222=)
|
rs781238780
|
0.00004
|
NM_000540.3(RYR1):c.3853A>G (p.Met1285Val)
|
rs752075589
|
0.00004
|
NM_000540.3(RYR1):c.3950C>T (p.Pro1317Leu)
|
rs781145954
|
0.00004
|
NM_000540.3(RYR1):c.3975G>A (p.Ala1325=)
|
rs578203473
|
0.00004
|
NM_000540.3(RYR1):c.4108G>A (p.Ala1370Thr)
|
rs766147636
|
0.00004
|
NM_000540.3(RYR1):c.4161-8A>G
|
rs749480693
|
0.00004
|
NM_000540.3(RYR1):c.4213C>A (p.Pro1405Thr)
|
rs376567445
|
0.00004
|
NM_000540.3(RYR1):c.4217C>T (p.Thr1406Met)
|
rs187496208
|
0.00004
|
NM_000540.3(RYR1):c.4270G>A (p.Glu1424Lys)
|
rs543630280
|
0.00004
|
NM_000540.3(RYR1):c.4361C>T (p.Pro1454Leu)
|
rs149737658
|
0.00004
|
NM_000540.3(RYR1):c.4519C>T (p.Arg1507Trp)
|
rs752736122
|
0.00004
|
NM_000540.3(RYR1):c.4657G>A (p.Val1553Ile)
|
rs775732541
|
0.00004
|
NM_000540.3(RYR1):c.4708-9T>C
|
rs1431867805
|
0.00004
|
NM_000540.3(RYR1):c.4748G>A (p.Arg1583His)
|
rs778411704
|
0.00004
|
NM_000540.3(RYR1):c.4759G>A (p.Ala1587Thr)
|
rs1030955858
|
0.00004
|
NM_000540.3(RYR1):c.4852C>T (p.Arg1618Cys)
|
rs924891897
|
0.00004
|
NM_000540.3(RYR1):c.4858G>A (p.Gly1620Ser)
|
rs190382569
|
0.00004
|
NM_000540.3(RYR1):c.4963C>T (p.Arg1655Cys)
|
rs371777056
|
0.00004
|
NM_000540.3(RYR1):c.5064A>T (p.Val1688=)
|
rs373673924
|
0.00004
|
NM_000540.3(RYR1):c.5287C>T (p.Pro1763Ser)
|
rs202225176
|
0.00004
|
NM_000540.3(RYR1):c.5340_5341del (p.Cys1781fs)
|
rs779723153
|
0.00004
|
NM_000540.3(RYR1):c.5346C>T (p.Phe1782=)
|
rs762772302
|
0.00004
|
NM_000540.3(RYR1):c.549C>T (p.Thr183=)
|
rs147707866
|
0.00004
|
NM_000540.3(RYR1):c.5638G>A (p.Glu1880Lys)
|
rs777733662
|
0.00004
|
NM_000540.3(RYR1):c.5671G>A (p.Glu1891Lys)
|
rs990397545
|
0.00004
|
NM_000540.3(RYR1):c.5781C>T (p.Leu1927=)
|
rs773796528
|
0.00004
|
NM_000540.3(RYR1):c.5815-6C>G
|
rs747700902
|
0.00004
|
NM_000540.3(RYR1):c.6086A>G (p.Gln2029Arg)
|
rs1484562818
|
0.00004
|
NM_000540.3(RYR1):c.6177G>A (p.Leu2059=)
|
rs374092732
|
0.00004
|
NM_000540.3(RYR1):c.6274+1G>A
|
rs1226228092
|
0.00004
|
NM_000540.3(RYR1):c.6300C>T (p.His2100=)
|
rs758140159
|
0.00004
|
NM_000540.3(RYR1):c.6385G>A (p.Asp2129Asn)
|
rs772695891
|
0.00004
|
NM_000540.3(RYR1):c.6402G>A (p.Leu2134=)
|
rs774086549
|
0.00004
|
NM_000540.3(RYR1):c.6444C>T (p.Ser2148=)
|
rs200381338
|
0.00004
|
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met)
|
rs118192177
|
0.00004
|
NM_000540.3(RYR1):c.6671G>A (p.Arg2224His)
|
rs537994744
|
0.00004
|
NM_000540.3(RYR1):c.6730C>T (p.Arg2244Trp)
|
rs772753793
|
0.00004
|
NM_000540.3(RYR1):c.6837C>T (p.Ser2279=)
|
rs201803186
|
0.00004
|
NM_000540.3(RYR1):c.7027+9G>T
|
rs752243108
|
0.00004
|
NM_000540.3(RYR1):c.7064G>A (p.Arg2355Gln)
|
rs144526634
|
0.00004
|
NM_000540.3(RYR1):c.7173G>A (p.Ala2391=)
|
rs151115554
|
0.00004
|
NM_000540.3(RYR1):c.7204C>T (p.Arg2402Trp)
|
rs575780192
|
0.00004
|
NM_000540.3(RYR1):c.7215-14C>T
|
rs199721157
|
0.00004
|
NM_000540.3(RYR1):c.721C>T (p.Arg241Cys)
|
rs751622747
|
0.00004
|
NM_000540.3(RYR1):c.72C>T (p.Ser24=)
|
rs754645461
|
0.00004
|
NM_000540.3(RYR1):c.7349C>T (p.Ala2450Val)
|
rs141959437
|
0.00004
|
NM_000540.3(RYR1):c.7615-20G>A
|
rs746763718
|
0.00004
|
NM_000540.3(RYR1):c.7653C>T (p.Asn2551=)
|
rs201166038
|
0.00004
|
NM_000540.3(RYR1):c.7666C>T (p.Leu2556=)
|
rs138925222
|
0.00004
|
NM_000540.3(RYR1):c.766C>T (p.Arg256Cys)
|
rs747769229
|
0.00004
|
NM_000540.3(RYR1):c.7689C>G (p.Thr2563=)
|
rs781110591
|
0.00004
|
NM_000540.3(RYR1):c.7835G>A (p.Arg2612Lys)
|
rs769677939
|
0.00004
|
NM_000540.3(RYR1):c.8067+17G>A
|
rs767562157
|
0.00004
|
NM_000540.3(RYR1):c.8068-11G>A
|
rs779289075
|
0.00004
|
NM_000540.3(RYR1):c.8068-12C>T
|
rs576773729
|
0.00004
|
NM_000540.3(RYR1):c.8142T>C (p.Tyr2714=)
|
rs567352621
|
0.00004
|
NM_000540.3(RYR1):c.8232-8C>T
|
rs985595474
|
0.00004
|
NM_000540.3(RYR1):c.8277G>A (p.Ala2759=)
|
rs375159951
|
0.00004
|
NM_000540.3(RYR1):c.8305G>A (p.Asp2769Asn)
|
rs566495420
|
0.00004
|
NM_000540.3(RYR1):c.872C>T (p.Ala291Val)
|
rs200572262
|
0.00004
|
NM_000540.3(RYR1):c.879C>T (p.Thr293=)
|
rs371599963
|
0.00004
|
NM_000540.3(RYR1):c.8928C>T (p.His2976=)
|
rs779607612
|
0.00004
|
NM_000540.3(RYR1):c.9082G>A (p.Gly3028Ser)
|
rs548280516
|
0.00004
|
NM_000540.3(RYR1):c.9091G>A (p.Ala3031Thr)
|
rs756311466
|
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.9640A>G (p.Asn3214Asp)
|
rs377541724
|
0.00004
|
NM_000540.3(RYR1):c.9642C>T (p.Asn3214=)
|
rs200736343
|
0.00004
|
NM_000540.3(RYR1):c.9818C>T (p.Thr3273Met)
|
rs371744890
|
0.00004
|
NM_000540.3(RYR1):c.9859C>T (p.Arg3287Cys)
|
rs201276068
|
0.00004
|
NM_000540.3(RYR1):c.9953A>G (p.Asn3318Ser)
|
rs769650528
|
0.00004
|
NM_000540.3(RYR1):c.9967A>G (p.Ile3323Val)
|
rs762667282
|
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.10259+6C>T
|
rs754022028
|
0.00003
|
NM_000540.3(RYR1):c.10262C>T (p.Ala3421Val)
|
rs772280687
|
0.00003
|
NM_000540.3(RYR1):c.10291G>A (p.Ala3431Thr)
|
rs553113819
|
0.00003
|
NM_000540.3(RYR1):c.10293G>A (p.Ala3431=)
|
rs750009828
|
0.00003
|
NM_000540.3(RYR1):c.10493G>A (p.Arg3498His)
|
rs529215921
|
0.00003
|
NM_000540.3(RYR1):c.10577C>T (p.Ala3526Val)
|
rs374061380
|
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.10626+17G>A
|
rs748420235
|
0.00003
|
NM_000540.3(RYR1):c.10686+3A>G
|
rs781599348
|
0.00003
|
NM_000540.3(RYR1):c.10687-15T>C
|
rs769754169
|
0.00003
|
NM_000540.3(RYR1):c.10927A>C (p.Asn3643His)
|
rs924687841
|
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.1126A>G (p.Met376Val)
|
rs376652821
|
0.00003
|
NM_000540.3(RYR1):c.1140G>A (p.Glu380=)
|
rs35189056
|
0.00003
|
NM_000540.3(RYR1):c.11615A>C (p.Lys3872Thr)
|
rs753061108
|
0.00003
|
NM_000540.3(RYR1):c.12243G>A (p.Thr4081=)
|
rs762454885
|
0.00003
|
NM_000540.3(RYR1):c.12250C>T (p.Arg4084Cys)
|
rs755879946
|
0.00003
|
NM_000540.3(RYR1):c.12335C>T (p.Ser4112Leu)
|
rs193922847
|
0.00003
|
NM_000540.3(RYR1):c.12407G>A (p.Arg4136His)
|
rs572373150
|
0.00003
|
NM_000540.3(RYR1):c.12679G>T (p.Ala4227Ser)
|
rs969949769
|
0.00003
|
NM_000540.3(RYR1):c.12797G>A (p.Gly4266Asp)
|
rs1445617605
|
0.00003
|
NM_000540.3(RYR1):c.12840G>T (p.Ala4280=)
|
rs1292456827
|
0.00003
|
NM_000540.3(RYR1):c.12878C>T (p.Ala4293Val)
|
rs1223090052
|
0.00003
|
NM_000540.3(RYR1):c.1299G>A (p.Thr433=)
|
rs1023597741
|
0.00003
|
NM_000540.3(RYR1):c.13069C>A (p.Leu4357Met)
|
rs1236057233
|
0.00003
|
NM_000540.3(RYR1):c.13082C>T (p.Ser4361Leu)
|
rs1385549951
|
0.00003
|
NM_000540.3(RYR1):c.13168G>C (p.Glu4390Gln)
|
rs1413644550
|
0.00003
|
NM_000540.3(RYR1):c.1318G>A (p.Val440Ile)
|
rs763251588
|
0.00003
|
NM_000540.3(RYR1):c.13197G>T (p.Pro4399=)
|
rs773923211
|
0.00003
|
NM_000540.3(RYR1):c.13207G>A (p.Ala4403Thr)
|
rs1051206491
|
0.00003
|
NM_000540.3(RYR1):c.13212C>T (p.Asp4404=)
|
rs1031604882
|
0.00003
|
NM_000540.3(RYR1):c.13271A>C (p.Glu4424Ala)
|
rs752665367
|
0.00003
|
NM_000540.3(RYR1):c.13369A>T (p.Met4457Leu)
|
rs867851900
|
0.00003
|
NM_000540.3(RYR1):c.13448T>G (p.Val4483Gly)
|
rs931169553
|
0.00003
|
NM_000540.3(RYR1):c.13485G>A (p.Pro4495=)
|
rs554451286
|
0.00003
|
NM_000540.3(RYR1):c.13505A>G (p.Glu4502Gly)
|
rs139647387
|
0.00003
|
NM_000540.3(RYR1):c.13514+9C>A
|
rs369244441
|
0.00003
|
NM_000540.3(RYR1):c.13691G>A (p.Arg4564Gln)
|
rs864309559
|
0.00003
|
NM_000540.3(RYR1):c.13774G>A (p.Asp4592Asn)
|
rs572103362
|
0.00003
|
NM_000540.3(RYR1):c.13932G>T (p.Leu4644=)
|
rs199698011
|
0.00003
|
NM_000540.3(RYR1):c.14032C>T (p.Leu4678=)
|
rs1301646256
|
0.00003
|
NM_000540.3(RYR1):c.14058C>G (p.Gly4686=)
|
rs886038322
|
0.00003
|
NM_000540.3(RYR1):c.1410G>T (p.Leu470=)
|
rs372952440
|
0.00003
|
NM_000540.3(RYR1):c.1419C>A (p.Arg473=)
|
rs200298392
|
0.00003
|
NM_000540.3(RYR1):c.14303+17C>G
|
rs200239964
|
0.00003
|
NM_000540.3(RYR1):c.14314A>G (p.Ile4772Val)
|
rs371953926
|
0.00003
|
NM_000540.3(RYR1):c.14512-8G>A
|
rs745914262
|
0.00003
|
NM_000540.3(RYR1):c.14601C>T (p.Ser4867=)
|
rs370469515
|
0.00003
|
NM_000540.3(RYR1):c.14647-5C>T
|
rs749356978
|
0.00003
|
NM_000540.3(RYR1):c.14717C>G (p.Ala4906Gly)
|
rs118192153
|
0.00003
|
NM_000540.3(RYR1):c.14782A>G (p.Ile4928Val)
|
rs1286759539
|
0.00003
|
NM_000540.3(RYR1):c.14868+6T>A
|
rs759934562
|
0.00003
|
NM_000540.3(RYR1):c.14928C>G (p.Phe4976Leu)
|
rs368874586
|
0.00003
|
NM_000540.3(RYR1):c.15067T>C (p.Phe5023Leu)
|
rs753078398
|
0.00003
|
NM_000540.3(RYR1):c.1589G>A (p.Arg530His)
|
rs111888148
|
0.00003
|
NM_000540.3(RYR1):c.159C>T (p.Asn53=)
|
rs780591516
|
0.00003
|
NM_000540.3(RYR1):c.165+5G>A
|
rs371043203
|
0.00003
|
NM_000540.3(RYR1):c.166-4C>T
|
rs771164679
|
0.00003
|
NM_000540.3(RYR1):c.1925+19G>A
|
rs764074598
|
0.00003
|
NM_000540.3(RYR1):c.2112C>T (p.Asn704=)
|
rs770809214
|
0.00003
|
NM_000540.3(RYR1):c.2269C>T (p.Arg757Cys)
|
rs890373465
|
0.00003
|
NM_000540.3(RYR1):c.2365C>T (p.Arg789Trp)
|
rs765445445
|
0.00003
|
NM_000540.3(RYR1):c.2390G>A (p.Gly797Asp)
|
rs896357123
|
0.00003
|
NM_000540.3(RYR1):c.2450G>A (p.Arg817Gln)
|
rs759902314
|
0.00003
|
NM_000540.3(RYR1):c.2480A>T (p.Glu827Val)
|
rs758782788
|
0.00003
|
NM_000540.3(RYR1):c.2489G>A (p.Arg830Gln)
|
rs777191617
|
0.00003
|
NM_000540.3(RYR1):c.2551G>A (p.Val851Met)
|
rs375669412
|
0.00003
|
NM_000540.3(RYR1):c.2609G>A (p.Arg870Gln)
|
rs755152453
|
0.00003
|
NM_000540.3(RYR1):c.2683-46G>T
|
rs753062891
|
0.00003
|
NM_000540.3(RYR1):c.271-16C>T
|
rs965020964
|
0.00003
|
NM_000540.3(RYR1):c.2781G>A (p.Thr927=)
|
rs762155957
|
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.3022G>A (p.Ala1008Thr)
|
rs770447929
|
0.00003
|
NM_000540.3(RYR1):c.3047G>A (p.Arg1016Gln)
|
rs373541911
|
0.00003
|
NM_000540.3(RYR1):c.3128G>A (p.Arg1043His)
|
rs374776563
|
0.00003
|
NM_000540.3(RYR1):c.3175C>T (p.Pro1059Ser)
|
rs558190898
|
0.00003
|
NM_000540.3(RYR1):c.3179-16C>T
|
rs982271145
|
0.00003
|
NM_000540.3(RYR1):c.3256C>T (p.Arg1086Cys)
|
rs373618219
|
0.00003
|
NM_000540.3(RYR1):c.3257G>A (p.Arg1086His)
|
rs764009626
|
0.00003
|
NM_000540.3(RYR1):c.3432G>A (p.Pro1144=)
|
rs776614841
|
0.00003
|
NM_000540.3(RYR1):c.345+15G>A
|
rs199755207
|
0.00003
|
NM_000540.3(RYR1):c.3692G>A (p.Arg1231His)
|
rs558969466
|
0.00003
|
NM_000540.3(RYR1):c.370C>T (p.Arg124Cys)
|
rs765121148
|
0.00003
|
NM_000540.3(RYR1):c.3765+20A>G
|
rs368304712
|
0.00003
|
NM_000540.3(RYR1):c.3815C>T (p.Thr1272Ile)
|
rs750818753
|
0.00003
|
NM_000540.3(RYR1):c.3882C>T (p.Val1294=)
|
rs773759107
|
0.00003
|
NM_000540.3(RYR1):c.4003C>T (p.Arg1335Cys)
|
rs767382534
|
0.00003
|
NM_000540.3(RYR1):c.4072G>A (p.Gly1358Arg)
|
rs868508791
|
0.00003
|
NM_000540.3(RYR1):c.4101G>A (p.Ala1367=)
|
rs886038328
|
0.00003
|
NM_000540.3(RYR1):c.417C>T (p.Asp139=)
|
rs140004993
|
0.00003
|
NM_000540.3(RYR1):c.4258C>T (p.Arg1420Cys)
|
rs760625346
|
0.00003
|
NM_000540.3(RYR1):c.4339G>A (p.Val1447Met)
|
rs370851779
|
0.00003
|
NM_000540.3(RYR1):c.4347G>A (p.Ala1449=)
|
rs749006833
|
0.00003
|
NM_000540.3(RYR1):c.4377C>T (p.His1459=)
|
rs772882086
|
0.00003
|
NM_000540.3(RYR1):c.4415C>T (p.Thr1472Met)
|
rs1318296270
|
0.00003
|
NM_000540.3(RYR1):c.4729G>A (p.Ala1577Thr)
|
rs118192120
|
0.00003
|
NM_000540.3(RYR1):c.4757C>T (p.Pro1586Leu)
|
rs752060627
|
0.00003
|
NM_000540.3(RYR1):c.4857C>T (p.Ala1619=)
|
rs752119672
|
0.00003
|
NM_000540.3(RYR1):c.4950G>A (p.Leu1650=)
|
rs758339487
|
0.00003
|
NM_000540.3(RYR1):c.5067C>G (p.Asp1689Glu)
|
rs777209922
|
0.00003
|
NM_000540.3(RYR1):c.5115_5122del (p.Leu1706fs)
|
rs1248355799
|
0.00003
|
NM_000540.3(RYR1):c.5120G>A (p.Arg1707His)
|
rs371566475
|
0.00003
|
NM_000540.3(RYR1):c.5336C>T (p.Pro1779Leu)
|
rs765255811
|
0.00003
|
NM_000540.3(RYR1):c.537+13G>A
|
rs754569485
|
0.00003
|
NM_000540.3(RYR1):c.546G>A (p.Ser182=)
|
rs372660267
|
0.00003
|
NM_000540.3(RYR1):c.5532C>T (p.Leu1844=)
|
rs754562295
|
0.00003
|
NM_000540.3(RYR1):c.5640G>A (p.Glu1880=)
|
rs146875363
|
0.00003
|
NM_000540.3(RYR1):c.5891G>A (p.Arg1964His)
|
rs767487116
|
0.00003
|
NM_000540.3(RYR1):c.6050A>G (p.Asp2017Gly)
|
rs1302216965
|
0.00003
|
NM_000540.3(RYR1):c.6078G>A (p.Glu2026=)
|
rs201310026
|
0.00003
|
NM_000540.3(RYR1):c.614G>C (p.Cys205Ser)
|
rs201834803
|
0.00003
|
NM_000540.3(RYR1):c.6211C>T (p.Arg2071Trp)
|
rs147441124
|
0.00003
|
NM_000540.3(RYR1):c.6318C>A (p.Ala2106=)
|
rs769443054
|
0.00003
|
NM_000540.3(RYR1):c.6343G>A (p.Glu2115Lys)
|
rs147197176
|
0.00003
|
NM_000540.3(RYR1):c.6352C>T (p.Arg2118Trp)
|
rs148660840
|
0.00003
|
NM_000540.3(RYR1):c.6374A>G (p.His2125Arg)
|
rs775112843
|
0.00003
|
NM_000540.3(RYR1):c.6797-10G>A
|
rs373459426
|
0.00003
|
NM_000540.3(RYR1):c.6813G>A (p.Thr2271=)
|
rs147786842
|
0.00003
|
NM_000540.3(RYR1):c.6838G>T (p.Val2280Phe)
|
rs193922797
|
0.00003
|
NM_000540.3(RYR1):c.7093G>A (p.Gly2365Arg)
|
rs761224660
|
0.00003
|
NM_000540.3(RYR1):c.7099G>A (p.Ala2367Thr)
|
rs146306934
|
0.00003
|
NM_000540.3(RYR1):c.7193G>A (p.Arg2398His)
|
rs757289154
|
0.00003
|
NM_000540.3(RYR1):c.7210G>A (p.Glu2404Lys)
|
rs111364296
|
0.00003
|
NM_000540.3(RYR1):c.722G>A (p.Arg241His)
|
rs552007612
|
0.00003
|
NM_000540.3(RYR1):c.7244G>A (p.Arg2415Gln)
|
rs201584482
|
0.00003
|
NM_000540.3(RYR1):c.7291G>A (p.Asp2431Asn)
|
rs193922810
|
0.00003
|
NM_000540.3(RYR1):c.7336G>A (p.Gly2446Ser)
|
rs375148516
|
0.00003
|
NM_000540.3(RYR1):c.7598C>T (p.Ala2533Val)
|
rs1085307809
|
0.00003
|
NM_000540.3(RYR1):c.7613C>T (p.Thr2538Met)
|
rs575446156
|
0.00003
|
NM_000540.3(RYR1):c.7683C>T (p.Leu2561=)
|
rs144196095
|
0.00003
|
NM_000540.3(RYR1):c.7754C>T (p.Thr2585Ile)
|
rs371934483
|
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.7781C>T (p.Ser2594Leu)
|
rs749564145
|
0.00003
|
NM_000540.3(RYR1):c.7798C>T (p.Arg2600Cys)
|
rs1480598842
|
0.00003
|
NM_000540.3(RYR1):c.7803C>T (p.Asp2601=)
|
rs763908615
|
0.00003
|
NM_000540.3(RYR1):c.7836-12A>G
|
rs750768318
|
0.00003
|
NM_000540.3(RYR1):c.7836G>A (p.Arg2612=)
|
rs755128540
|
0.00003
|
NM_000540.3(RYR1):c.7884C>T (p.Phe2628=)
|
rs777187427
|
0.00003
|
NM_000540.3(RYR1):c.800+7C>T
|
rs762118960
|
0.00003
|
NM_000540.3(RYR1):c.8112C>T (p.Cys2704=)
|
rs763722972
|
0.00003
|
NM_000540.3(RYR1):c.8113G>A (p.Ala2705Thr)
|
rs536813036
|
0.00003
|
NM_000540.3(RYR1):c.8137G>A (p.Asp2713Asn)
|
rs765571437
|
0.00003
|
NM_000540.3(RYR1):c.820C>T (p.Arg274Cys)
|
rs770370125
|
0.00003
|
NM_000540.3(RYR1):c.821G>C (p.Arg274Pro)
|
rs368711923
|
0.00003
|
NM_000540.3(RYR1):c.825G>T (p.Trp275Cys)
|
rs138687891
|
0.00003
|
NM_000540.3(RYR1):c.845G>A (p.Arg282Gln)
|
rs201164249
|
0.00003
|
NM_000540.3(RYR1):c.850G>A (p.Val284Ile)
|
rs201388370
|
0.00003
|
NM_000540.3(RYR1):c.8686G>A (p.Ala2896Thr)
|
rs886054397
|
0.00003
|
NM_000540.3(RYR1):c.8752C>G (p.Arg2918Gly)
|
rs571701341
|
0.00003
|
NM_000540.3(RYR1):c.9180C>T (p.Asp3060=)
|
rs765552320
|
0.00003
|
NM_000540.3(RYR1):c.9347C>T (p.Ser3116Leu)
|
rs200238436
|
0.00003
|
NM_000540.3(RYR1):c.9457G>A (p.Gly3153Arg)
|
rs779410371
|
0.00003
|
NM_000540.3(RYR1):c.947G>T (p.Arg316Leu)
|
rs193922761
|
0.00003
|
NM_000540.3(RYR1):c.9546T>C (p.Tyr3182=)
|
rs780192158
|
0.00003
|
NM_000540.3(RYR1):c.9586C>T (p.Arg3196Cys)
|
rs766362010
|
0.00003
|
NM_000540.3(RYR1):c.9606G>A (p.Pro3202=)
|
rs754842988
|
0.00003
|
NM_000540.3(RYR1):c.9612G>A (p.Ala3204=)
|
rs748122408
|
0.00003
|
NM_000540.3(RYR1):c.9624G>T (p.Pro3208=)
|
rs552470353
|
0.00003
|
NM_000540.3(RYR1):c.9723C>T (p.Pro3241=)
|
rs199828145
|
0.00003
|
NM_000540.3(RYR1):c.9801G>A (p.Pro3267=)
|
rs138263729
|
0.00003
|
NM_000540.3(RYR1):c.9811G>A (p.Glu3271Lys)
|
rs773026490
|
0.00003
|
NM_000540.3(RYR1):c.982C>A (p.Arg328=)
|
|
0.00003
|
NM_000540.3(RYR1):c.9847C>T (p.Arg3283Ter)
|
rs752199191
|
0.00003
|
NM_000540.3(RYR1):c.9860G>A (p.Arg3287His)
|
rs756487708
|
0.00003
|
NM_000540.3(RYR1):c.9862G>A (p.Gly3288Arg)
|
rs769054388
|
0.00003
|
NM_000540.3(RYR1):c.9874C>T (p.Pro3292Ser)
|
rs144135230
|
0.00003
|
NM_000540.3(RYR1):c.9895G>A (p.Gly3299Ser)
|
rs372203483
|
0.00003
|
NM_000540.3(RYR1):c.9899C>T (p.Ala3300Val)
|
rs749718772
|
0.00003
|
NM_000540.3(RYR1):c.9991G>A (p.Glu3331Lys)
|
rs754426488
|
0.00003
|
NM_000540.3(RYR1):c.-31C>T
|
rs375755030
|
0.00002
|
NM_000540.3(RYR1):c.10059C>T (p.Leu3353=)
|
rs1454287833
|
0.00002
|
NM_000540.3(RYR1):c.10067C>T (p.Ser3356Phe)
|
rs771705965
|
0.00002
|
NM_000540.3(RYR1):c.10139G>A (p.Arg3380His)
|
rs754760055
|
0.00002
|
NM_000540.3(RYR1):c.10140C>T (p.Arg3380=)
|
rs778920137
|
0.00002
|
NM_000540.3(RYR1):c.10171G>A (p.Glu3391Lys)
|
rs1216966090
|
0.00002
|
NM_000540.3(RYR1):c.10183C>T (p.Arg3395Trp)
|
rs761996554
|
0.00002
|
NM_000540.3(RYR1):c.10221C>T (p.Ala3407=)
|
rs533304632
|
0.00002
|
NM_000540.3(RYR1):c.10230G>A (p.Pro3410=)
|
rs774663618
|
0.00002
|
NM_000540.3(RYR1):c.10259+17T>C
|
rs756915119
|
0.00002
|
NM_000540.3(RYR1):c.10347+8C>T
|
rs757633563
|
0.00002
|
NM_000540.3(RYR1):c.10348-42T>G
|
rs2304152
|
0.00002
|
NM_000540.3(RYR1):c.10358G>A (p.Arg3453His)
|
rs187802601
|
0.00002
|
NM_000540.3(RYR1):c.10422C>G (p.Asn3474Lys)
|
rs769661588
|
0.00002
|
NM_000540.3(RYR1):c.10478G>A (p.Arg3493His)
|
rs756062833
|
0.00002
|
NM_000540.3(RYR1):c.10489A>C (p.Lys3497Gln)
|
rs754849970
|
0.00002
|
NM_000540.3(RYR1):c.10554G>A (p.Leu3518=)
|
rs778920000
|
0.00002
|
NM_000540.3(RYR1):c.10621G>A (p.Ala3541Thr)
|
rs376338203
|
0.00002
|
NM_000540.3(RYR1):c.10686+7C>A
|
rs1256380042
|
0.00002
|
NM_000540.3(RYR1):c.10687-8C>T
|
rs746625846
|
0.00002
|
NM_000540.3(RYR1):c.1068C>T (p.Leu356=)
|
rs770069138
|
0.00002
|
NM_000540.3(RYR1):c.10729C>T (p.Arg3577Trp)
|
rs538497899
|
0.00002
|
NM_000540.3(RYR1):c.10755C>T (p.Asp3585=)
|
rs565882584
|
0.00002
|
NM_000540.3(RYR1):c.10916C>T (p.Thr3639Met)
|
rs369390137
|
0.00002
|
NM_000540.3(RYR1):c.10970A>G (p.Tyr3657Cys)
|
rs748470645
|
0.00002
|
NM_000540.3(RYR1):c.11044G>C (p.Glu3682Gln)
|
rs1441652300
|
0.00002
|
NM_000540.3(RYR1):c.1104C>T (p.Leu368=)
|
rs753221270
|
0.00002
|
NM_000540.3(RYR1):c.11091C>T (p.Pro3697=)
|
rs201296563
|
0.00002
|
NM_000540.3(RYR1):c.11133G>A (p.Thr3711=)
|
rs368980166
|
0.00002
|
NM_000540.3(RYR1):c.11184C>T (p.Ile3728=)
|
rs111200476
|
0.00002
|
NM_000540.3(RYR1):c.11198G>A (p.Cys3733Tyr)
|
rs777478644
|
0.00002
|
NM_000540.3(RYR1):c.11302C>T (p.Arg3768Trp)
|
rs910313832
|
0.00002
|
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp)
|
rs763112609
|
0.00002
|
NM_000540.3(RYR1):c.11359+12_11359+13del
|
rs774493726
|
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.11516+9G>C
|
rs370432370
|
0.00002
|
NM_000540.3(RYR1):c.115G>A (p.Glu39Lys)
|
rs539201276
|
0.00002
|
NM_000540.3(RYR1):c.11600G>A (p.Arg3867His)
|
rs758651267
|
0.00002
|
NM_000540.3(RYR1):c.11609-15C>T
|
rs1433415219
|
0.00002
|
NM_000540.3(RYR1):c.11664A>G (p.Gln3888=)
|
rs756002693
|
0.00002
|
NM_000540.3(RYR1):c.11726C>T (p.Thr3909Met)
|
rs762258310
|
0.00002
|
NM_000540.3(RYR1):c.11778+13G>A
|
rs886038315
|
0.00002
|
NM_000540.3(RYR1):c.11778+5G>A
|
rs777559751
|
0.00002
|
NM_000540.3(RYR1):c.11907+15C>T
|
rs200813231
|
0.00002
|
NM_000540.3(RYR1):c.11920G>A (p.Gly3974Arg)
|
rs774432541
|
0.00002
|
NM_000540.3(RYR1):c.1201C>T (p.Arg401Cys)
|
rs193922764
|
0.00002
|
NM_000540.3(RYR1):c.12064A>G (p.Met4022Val)
|
rs773040531
|
0.00002
|
NM_000540.3(RYR1):c.12094+16T>C
|
rs374320090
|
0.00002
|
NM_000540.3(RYR1):c.12159T>C (p.Asn4053=)
|
rs745595509
|
0.00002
|
NM_000540.3(RYR1):c.12187A>G (p.Met4063Val)
|
rs181968345
|
0.00002
|
NM_000540.3(RYR1):c.12222A>G (p.Glu4074=)
|
rs751531998
|
0.00002
|
NM_000540.3(RYR1):c.122T>C (p.Phe41Ser)
|
rs766407858
|
0.00002
|
NM_000540.3(RYR1):c.12322C>G (p.Gln4108Glu)
|
rs774414325
|
0.00002
|
NM_000540.3(RYR1):c.12355A>T (p.Asn4119Tyr)
|
rs193922848
|
0.00002
|
NM_000540.3(RYR1):c.123C>T (p.Phe41=)
|
rs753672925
|
0.00002
|
NM_000540.3(RYR1):c.12477G>T (p.Leu4159=)
|
rs756698335
|
0.00002
|
NM_000540.3(RYR1):c.12479A>T (p.His4160Leu)
|
rs780793478
|
0.00002
|
NM_000540.3(RYR1):c.12624+9A>G
|
rs548515798
|
0.00002
|
NM_000540.3(RYR1):c.1264G>A (p.Gly422Arg)
|
rs757157750
|
0.00002
|
NM_000540.3(RYR1):c.12749T>C (p.Ile4250Thr)
|
rs1316713022
|
0.00002
|
NM_000540.3(RYR1):c.12804G>A (p.Ala4268=)
|
rs1384643579
|
0.00002
|
NM_000540.3(RYR1):c.12837G>A (p.Ala4279=)
|
rs1355927261
|
0.00002
|
NM_000540.3(RYR1):c.13180G>A (p.Glu4394Lys)
|
rs748844266
|
0.00002
|
NM_000540.3(RYR1):c.13225A>G (p.Ser4409Gly)
|
rs1211340506
|
0.00002
|
NM_000540.3(RYR1):c.13233C>T (p.Gly4411=)
|
rs1285802730
|
0.00002
|
NM_000540.3(RYR1):c.13417A>G (p.Ile4473Val)
|
rs1162688814
|
0.00002
|
NM_000540.3(RYR1):c.13545C>T (p.Pro4515=)
|
rs1374723358
|
0.00002
|
NM_000540.3(RYR1):c.13617C>T (p.Gly4539=)
|
rs2302296
|
0.00002
|
NM_000540.3(RYR1):c.13650G>C (p.Val4550=)
|
rs201951387
|
0.00002
|
NM_000540.3(RYR1):c.1372T>G (p.Leu458Val)
|
rs369932139
|
0.00002
|
NM_000540.3(RYR1):c.13773C>T (p.Asp4591=)
|
rs111578044
|
0.00002
|
NM_000540.3(RYR1):c.13867G>A (p.Asp4623Asn)
|
rs547709829
|
0.00002
|
NM_000540.3(RYR1):c.13933C>T (p.Arg4645Trp)
|
rs377667641
|
0.00002
|
NM_000540.3(RYR1):c.13978A>T (p.Ile4660Phe)
|
rs776977485
|
0.00002
|
NM_000540.3(RYR1):c.13990T>C (p.Cys4664Arg)
|
rs759500310
|
0.00002
|
NM_000540.3(RYR1):c.14049G>A (p.Glu4683=)
|
rs754600386
|
0.00002
|
NM_000540.3(RYR1):c.14132C>G (p.Ser4711Cys)
|
rs201147958
|
0.00002
|
NM_000540.3(RYR1):c.14173-2A>G
|
rs1189024951
|
0.00002
|
NM_000540.3(RYR1):c.14236C>A (p.Leu4746Met)
|
rs752910637
|
0.00002
|
NM_000540.3(RYR1):c.14346G>T (p.Gly4782=)
|
rs776128267
|
0.00002
|
NM_000540.3(RYR1):c.14512-10C>T
|
rs776781628
|
0.00002
|
NM_000540.3(RYR1):c.14646+20C>G
|
rs371199096
|
0.00002
|
NM_000540.3(RYR1):c.14647-1448T>C
|
rs867338086
|
0.00002
|
NM_000540.3(RYR1):c.14697G>A (p.Gly4899=)
|
rs770698609
|
0.00002
|
NM_000540.3(RYR1):c.14728T>A (p.Tyr4910Asn)
|
rs753961701
|
0.00002
|
NM_000540.3(RYR1):c.14751C>T (p.Phe4917=)
|
rs748270236
|
0.00002
|
NM_000540.3(RYR1):c.14803+3C>T
|
rs1202804699
|
0.00002
|
NM_000540.3(RYR1):c.14817C>T (p.Asp4939=)
|
rs193922895
|
0.00002
|
NM_000540.3(RYR1):c.14869-9C>T
|
rs910614647
|
0.00002
|
NM_000540.3(RYR1):c.14892C>T (p.Ile4964=)
|
rs2302297
|
0.00002
|
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)
|
rs146876145
|
0.00002
|
NM_000540.3(RYR1):c.14970-10T>C
|
rs1013907556
|
0.00002
|
NM_000540.3(RYR1):c.14970-5C>G
|
rs527738921
|
0.00002
|
NM_000540.3(RYR1):c.15061G>T (p.Asp5021Tyr)
|
rs779358618
|
0.00002
|
NM_000540.3(RYR1):c.15089G>A (p.Arg5030His)
|
rs747155223
|
0.00002
|
NM_000540.3(RYR1):c.153T>C (p.Thr51=)
|
rs751118259
|
0.00002
|
NM_000540.3(RYR1):c.1925+7C>T
|
rs559157737
|
0.00002
|
NM_000540.3(RYR1):c.1985A>G (p.Tyr662Cys)
|
rs1200789458
|
0.00002
|
NM_000540.3(RYR1):c.2045G>A (p.Arg682Gln)
|
rs372513400
|
0.00002
|
NM_000540.3(RYR1):c.2084C>G (p.Pro695Arg)
|
rs756620310
|
0.00002
|
NM_000540.3(RYR1):c.2107G>A (p.Gly703Ser)
|
rs773211015
|
0.00002
|
NM_000540.3(RYR1):c.2116G>A (p.Val706Ile)
|
rs141717554
|
0.00002
|
NM_000540.3(RYR1):c.2118C>T (p.Val706=)
|
rs769623563
|
0.00002
|
NM_000540.3(RYR1):c.2203C>T (p.His735Tyr)
|
rs771629253
|
0.00002
|
NM_000540.3(RYR1):c.2447C>T (p.Pro816Leu)
|
rs376149732
|
0.00002
|
NM_000540.3(RYR1):c.2490G>A (p.Arg830=)
|
rs150934716
|
0.00002
|
NM_000540.3(RYR1):c.2528G>A (p.Arg843His)
|
rs144911352
|
0.00002
|
NM_000540.3(RYR1):c.252G>A (p.Thr84=)
|
rs755823812
|
0.00002
|
NM_000540.3(RYR1):c.2577+17A>G
|
rs570202219
|
0.00002
|
NM_000540.3(RYR1):c.2635G>A (p.Glu879Lys)
|
rs746904839
|
0.00002
|
NM_000540.3(RYR1):c.2780C>T (p.Thr927Met)
|
rs751728775
|
0.00002
|
NM_000540.3(RYR1):c.2786+9C>T
|
rs368883218
|
0.00002
|
NM_000540.3(RYR1):c.2787-16A>G
|
rs998030731
|
0.00002
|
NM_000540.3(RYR1):c.2787-7C>T
|
rs1486816697
|
0.00002
|
NM_000540.3(RYR1):c.2811C>T (p.His937=)
|
rs749702969
|
0.00002
|
NM_000540.3(RYR1):c.2930C>T (p.Thr977Met)
|
rs375865052
|
0.00002
|
NM_000540.3(RYR1):c.2936C>T (p.Ala979Val)
|
rs769902566
|
0.00002
|
NM_000540.3(RYR1):c.3093G>A (p.Lys1031=)
|
rs748021486
|
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.321G>C (p.Leu107=)
|
rs776053008
|
0.00002
|
NM_000540.3(RYR1):c.3236C>G (p.Ser1079Cys)
|
rs773926353
|
0.00002
|
NM_000540.3(RYR1):c.3252C>T (p.Ser1084=)
|
rs144164620
|
0.00002
|
NM_000540.3(RYR1):c.3319G>A (p.Glu1107Lys)
|
rs777117206
|
0.00002
|
NM_000540.3(RYR1):c.3388C>T (p.Arg1130Cys)
|
rs746543447
|
0.00002
|
NM_000540.3(RYR1):c.3522C>T (p.Ser1174=)
|
rs559858324
|
0.00002
|
NM_000540.3(RYR1):c.3531C>T (p.Ala1177=)
|
rs762703365
|
0.00002
|
NM_000540.3(RYR1):c.3829G>A (p.Gly1277Ser)
|
rs755011605
|
0.00002
|
NM_000540.3(RYR1):c.3834C>T (p.Ser1278=)
|
rs1406967617
|
0.00002
|
NM_000540.3(RYR1):c.3849G>A (p.Val1283=)
|
rs779111292
|
0.00002
|
NM_000540.3(RYR1):c.3868C>T (p.Leu1290=)
|
rs745572367
|
0.00002
|
NM_000540.3(RYR1):c.3877C>A (p.Pro1293Thr)
|
rs146407179
|
0.00002
|
NM_000540.3(RYR1):c.3891C>T (p.His1297=)
|
rs371462309
|
0.00002
|
NM_000540.3(RYR1):c.3921C>T (p.Thr1307=)
|
rs758452433
|
0.00002
|
NM_000540.3(RYR1):c.3952G>A (p.Ala1318Thr)
|
rs755824571
|
0.00002
|
NM_000540.3(RYR1):c.3960C>T (p.Asp1320=)
|
rs768095292
|
0.00002
|
NM_000540.3(RYR1):c.3994G>A (p.Glu1332Lys)
|
rs896157692
|
0.00002
|
NM_000540.3(RYR1):c.4004G>A (p.Arg1335His)
|
rs750256869
|
0.00002
|
NM_000540.3(RYR1):c.4089G>C (p.Ala1363=)
|
rs761793739
|
0.00002
|
NM_000540.3(RYR1):c.4128G>A (p.Lys1376=)
|
rs752177520
|
0.00002
|
NM_000540.3(RYR1):c.4205C>T (p.Pro1402Leu)
|
rs766135560
|
0.00002
|
NM_000540.3(RYR1):c.424+4C>A
|
rs772775579
|
0.00002
|
NM_000540.3(RYR1):c.4305C>T (p.Ser1435=)
|
rs199864631
|
0.00002
|
NM_000540.3(RYR1):c.4454+14G>A
|
rs773052225
|
0.00002
|
NM_000540.3(RYR1):c.4455-5T>C
|
rs886038330
|
0.00002
|
NM_000540.3(RYR1):c.4507G>A (p.Gly1503Arg)
|
rs144747878
|
0.00002
|
NM_000540.3(RYR1):c.4520G>A (p.Arg1507Gln)
|
rs758206000
|
0.00002
|
NM_000540.3(RYR1):c.4560C>T (p.Asp1520=)
|
rs376023128
|
0.00002
|
NM_000540.3(RYR1):c.4637A>G (p.Lys1546Arg)
|
rs759947063
|
0.00002
|
NM_000540.3(RYR1):c.4674dup (p.Asn1559fs)
|
rs759632485
|
0.00002
|
NM_000540.3(RYR1):c.4678G>A (p.Val1560Ile)
|
rs767230160
|
0.00002
|
NM_000540.3(RYR1):c.4710C>T (p.Asn1570=)
|
rs763113534
|
0.00002
|
NM_000540.3(RYR1):c.4764G>A (p.Pro1588=)
|
rs531243171
|
0.00002
|
NM_000540.3(RYR1):c.4924G>A (p.Glu1642Lys)
|
rs1041070277
|
0.00002
|
NM_000540.3(RYR1):c.4980C>T (p.Arg1660=)
|
rs374115286
|
0.00002
|
NM_000540.3(RYR1):c.49G>A (p.Asp17Asn)
|
rs755878800
|
0.00002
|
NM_000540.3(RYR1):c.5021C>T (p.Ala1674Val)
|
rs1026509467
|
0.00002
|
NM_000540.3(RYR1):c.5086G>A (p.Ala1696Thr)
|
rs1179510850
|
0.00002
|
NM_000540.3(RYR1):c.5175C>A (p.Ser1725Arg)
|
rs763373996
|
0.00002
|
NM_000540.3(RYR1):c.5226C>T (p.Arg1742=)
|
rs567818625
|
0.00002
|
NM_000540.3(RYR1):c.538-7C>T
|
rs768992418
|
0.00002
|
NM_000540.3(RYR1):c.5475C>T (p.His1825=)
|
rs747310543
|
0.00002
|
NM_000540.3(RYR1):c.5484C>T (p.Asp1828=)
|
rs775744847
|
0.00002
|
NM_000540.3(RYR1):c.5542C>T (p.Leu1848=)
|
rs1366675079
|
0.00002
|
NM_000540.3(RYR1):c.5592G>A (p.Lys1864=)
|
rs750795766
|
0.00002
|
NM_000540.3(RYR1):c.5650G>C (p.Gly1884Arg)
|
rs776093828
|
0.00002
|
NM_000540.3(RYR1):c.569T>C (p.Val190Ala)
|
rs752090652
|
0.00002
|
NM_000540.3(RYR1):c.5869T>A (p.Ser1957Thr)
|
rs192932788
|
0.00002
|
NM_000540.3(RYR1):c.5920C>T (p.Arg1974Trp)
|
rs779733902
|
0.00002
|
NM_000540.3(RYR1):c.5934C>T (p.Gly1978=)
|
rs904728007
|
0.00002
|
NM_000540.3(RYR1):c.5962G>A (p.Ala1988Thr)
|
rs763360938
|
0.00002
|
NM_000540.3(RYR1):c.5981G>A (p.Arg1994His)
|
rs568165729
|
0.00002
|
NM_000540.3(RYR1):c.6015+17C>T
|
rs377301017
|
0.00002
|
NM_000540.3(RYR1):c.6016-19A>G
|
rs1250045343
|
0.00002
|
NM_000540.3(RYR1):c.6072T>A (p.Pro2024=)
|
rs748584800
|
0.00002
|
NM_000540.3(RYR1):c.6168G>A (p.Glu2056=)
|
rs767200020
|
0.00002
|
NM_000540.3(RYR1):c.6183C>T (p.Ser2061=)
|
rs753252394
|
0.00002
|
NM_000540.3(RYR1):c.6184C>T (p.Arg2062Cys)
|
rs758631725
|
0.00002
|
NM_000540.3(RYR1):c.619C>T (p.Arg207Cys)
|
rs748140394
|
0.00002
|
NM_000540.3(RYR1):c.6207A>G (p.Lys2069=)
|
rs920135778
|
0.00002
|
NM_000540.3(RYR1):c.6247G>A (p.Glu2083Lys)
|
rs1472353338
|
0.00002
|
NM_000540.3(RYR1):c.625G>A (p.Glu209Lys)
|
rs771058055
|
0.00002
|
NM_000540.3(RYR1):c.6274C>T (p.Arg2092Trp)
|
rs772164452
|
0.00002
|
NM_000540.3(RYR1):c.6359T>C (p.Met2120Thr)
|
rs398123473
|
0.00002
|
NM_000540.3(RYR1):c.636C>T (p.Phe212=)
|
rs781279190
|
0.00002
|
NM_000540.3(RYR1):c.6393G>A (p.Leu2131=)
|
rs759785005
|
0.00002
|
NM_000540.3(RYR1):c.6417G>A (p.Pro2139=)
|
rs780880695
|
0.00002
|
NM_000540.3(RYR1):c.6432C>T (p.Ile2144=)
|
rs151063086
|
0.00002
|
NM_000540.3(RYR1):c.6469G>A (p.Glu2157Lys)
|
rs554066182
|
0.00002
|
NM_000540.3(RYR1):c.6492G>A (p.Ser2164=)
|
rs372928743
|
0.00002
|
NM_000540.3(RYR1):c.6516C>G (p.Pro2172=)
|
rs781750510
|
0.00002
|
NM_000540.3(RYR1):c.6599C>T (p.Ala2200Val)
|
rs193922791
|
0.00002
|
NM_000540.3(RYR1):c.6669C>T (p.Ile2223=)
|
rs193922796
|
0.00002
|
NM_000540.3(RYR1):c.6743G>A (p.Arg2248His)
|
rs140152019
|
0.00002
|
NM_000540.3(RYR1):c.6789C>T (p.Ile2263=)
|
rs112051106
|
0.00002
|
NM_000540.3(RYR1):c.6796+8C>T
|
rs776090648
|
0.00002
|
NM_000540.3(RYR1):c.6798C>T (p.Gly2266=)
|
rs759676764
|
0.00002
|
NM_000540.3(RYR1):c.6812C>T (p.Thr2271Met)
|
rs752643745
|
0.00002
|
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile)
|
rs193922797
|
0.00002
|
NM_000540.3(RYR1):c.6856C>T (p.Leu2286=)
|
rs369610397
|
0.00002
|
NM_000540.3(RYR1):c.6860C>A (p.Ala2287Asp)
|
rs761154999
|
0.00002
|
NM_000540.3(RYR1):c.7027+4A>T
|
rs753538619
|
0.00002
|
NM_000540.3(RYR1):c.7062G>A (p.Val2354=)
|
rs1378979959
|
0.00002
|
NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp)
|
rs193922803
|
0.00002
|
NM_000540.3(RYR1):c.7154G>A (p.Arg2385His)
|
rs768343466
|
0.00002
|
NM_000540.3(RYR1):c.7161C>T (p.Ser2387=)
|
rs766839127
|
0.00002
|
NM_000540.3(RYR1):c.7252C>T (p.Leu2418=)
|
rs761917791
|
0.00002
|
NM_000540.3(RYR1):c.726A>G (p.Arg242=)
|
rs781385158
|
0.00002
|
NM_000540.3(RYR1):c.7305C>T (p.Arg2435=)
|
rs1970033831
|
0.00002
|
NM_000540.3(RYR1):c.7324-12del
|
rs769854361
|
0.00002
|
NM_000540.3(RYR1):c.7434C>G (p.Thr2478=)
|
rs747434152
|
0.00002
|
NM_000540.3(RYR1):c.7440C>A (p.Gly2480=)
|
rs745880204
|
0.00002
|
NM_000540.3(RYR1):c.7488G>A (p.Pro2496=)
|
rs375997435
|
0.00002
|
NM_000540.3(RYR1):c.7600G>A (p.Ala2534Thr)
|
rs1398337259
|
0.00002
|
NM_000540.3(RYR1):c.7615-13C>T
|
rs1331219827
|
0.00002
|
NM_000540.3(RYR1):c.7615-5C>T
|
rs768008924
|
0.00002
|
NM_000540.3(RYR1):c.7616C>T (p.Ala2539Val)
|
rs761057071
|
0.00002
|
NM_000540.3(RYR1):c.7631C>G (p.Thr2544Ser)
|
rs146326299
|
0.00002
|
NM_000540.3(RYR1):c.7740C>T (p.Asp2580=)
|
rs555791373
|
0.00002
|
NM_000540.3(RYR1):c.7760A>G (p.Tyr2587Cys)
|
rs767553612
|
0.00002
|
NM_000540.3(RYR1):c.7778G>A (p.Arg2593His)
|
rs751180702
|
0.00002
|
NM_000540.3(RYR1):c.7853T>C (p.Met2618Thr)
|
rs769326916
|
0.00002
|
NM_000540.3(RYR1):c.7855C>T (p.Leu2619=)
|
rs762212220
|
0.00002
|
NM_000540.3(RYR1):c.7897C>G (p.Leu2633Val)
|
rs757228479
|
0.00002
|
NM_000540.3(RYR1):c.8093T>C (p.Met2698Thr)
|
rs185021599
|
0.00002
|
NM_000540.3(RYR1):c.8115C>T (p.Ala2705=)
|
rs761249404
|
0.00002
|
NM_000540.3(RYR1):c.8212C>T (p.Arg2738Trp)
|
rs772766489
|
0.00002
|
NM_000540.3(RYR1):c.8226C>T (p.Thr2742=)
|
rs1357579462
|
0.00002
|
NM_000540.3(RYR1):c.844C>T (p.Arg282Trp)
|
rs1057518970
|
0.00002
|
NM_000540.3(RYR1):c.84C>T (p.Leu28=)
|
rs781676755
|
0.00002
|
NM_000540.3(RYR1):c.8696G>C (p.Gly2899Ala)
|
rs970107177
|
0.00002
|
NM_000540.3(RYR1):c.8771A>G (p.Gln2924Arg)
|
rs753533928
|
0.00002
|
NM_000540.3(RYR1):c.8799T>C (p.Asn2933=)
|
rs767105170
|
0.00002
|
NM_000540.3(RYR1):c.8816+10T>C
|
rs1308463337
|
0.00002
|
NM_000540.3(RYR1):c.8817-7C>A
|
rs748541593
|
0.00002
|
NM_000540.3(RYR1):c.890G>A (p.Gly297Asp)
|
rs769904500
|
0.00002
|
NM_000540.3(RYR1):c.8921T>C (p.Ile2974Thr)
|
rs1020896447
|
0.00002
|
NM_000540.3(RYR1):c.907G>A (p.Ala303Thr)
|
rs141764906
|
0.00002
|
NM_000540.3(RYR1):c.9081C>T (p.Ser3027=)
|
rs375021688
|
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.9587G>A (p.Arg3196His)
|
rs1064797240
|
0.00002
|
NM_000540.3(RYR1):c.9633C>T (p.Asn3211=)
|
rs978984063
|
0.00002
|
NM_000540.3(RYR1):c.9686-8T>C
|
rs755786200
|
0.00002
|
NM_000540.3(RYR1):c.9808A>T (p.Ile3270Phe)
|
rs761792934
|
0.00002
|
NM_000540.3(RYR1):c.9825C>T (p.Pro3275=)
|
rs753425281
|
0.00002
|
NM_000540.3(RYR1):c.9891C>T (p.Pro3297=)
|
rs764839238
|
0.00002
|
NM_000540.3(RYR1):c.9892G>A (p.Ala3298Thr)
|
rs544339193
|
0.00002
|
NM_000540.3(RYR1):c.9916G>A (p.Ala3306Thr)
|
rs770907655
|
0.00002
|
NM_000540.3(RYR1):c.9941C>G (p.Ser3314Cys)
|
rs776382789
|
0.00002
|
NM_000540.3(RYR1):c.9971T>C (p.Val3324Ala)
|
rs141515745
|
0.00002
|
NM_000540.3(RYR1):c.9995C>G (p.Ala3332Gly)
|
rs1309417886
|
0.00002
|
NM_000540.2(RYR1):c.14647-1449A>G
|
rs193922886
|
0.00001
|
NM_000540.3(RYR1):c.*7C>G
|
rs398123468
|
0.00001
|
NM_000540.3(RYR1):c.10010G>A (p.Arg3337Gln)
|
rs868761398
|
0.00001
|
NM_000540.3(RYR1):c.10018+7C>T
|
rs797045928
|
0.00001
|
NM_000540.3(RYR1):c.10019-12G>A
|
rs760157493
|
0.00001
|
NM_000540.3(RYR1):c.10019T>C (p.Val3340Ala)
|
rs765507146
|
0.00001
|
NM_000540.3(RYR1):c.10023C>T (p.Phe3341=)
|
rs753154402
|
0.00001
|
NM_000540.3(RYR1):c.10034T>C (p.Ile3345Thr)
|
rs757271636
|
0.00001
|
NM_000540.3(RYR1):c.10041C>T (p.Ser3347=)
|
rs1379806132
|
0.00001
|
NM_000540.3(RYR1):c.10043G>A (p.Arg3348His)
|
rs193922834
|
0.00001
|
NM_000540.3(RYR1):c.10049G>A (p.Arg3350Gln)
|
rs538500669
|
0.00001
|
NM_000540.3(RYR1):c.10052C>T (p.Pro3351Leu)
|
rs970909296
|
0.00001
|
NM_000540.3(RYR1):c.10071C>T (p.His3357=)
|
rs772837479
|
0.00001
|
NM_000540.3(RYR1):c.10113G>A (p.Lys3371=)
|
rs757539208
|
0.00001
|
NM_000540.3(RYR1):c.10147G>A (p.Ala3383Thr)
|
rs747790775
|
0.00001
|
NM_000540.3(RYR1):c.1014C>A (p.Ile338=)
|
rs8101510
|
0.00001
|
NM_000540.3(RYR1):c.10154C>T (p.Ala3385Val)
|
rs772566556
|
0.00001
|
NM_000540.3(RYR1):c.10155G>A (p.Ala3385=)
|
rs746491996
|
0.00001
|
NM_000540.3(RYR1):c.10170C>T (p.Gly3390=)
|
rs369239179
|
0.00001
|
NM_000540.3(RYR1):c.10189G>A (p.Glu3397Lys)
|
rs201339536
|
0.00001
|
NM_000540.3(RYR1):c.10208G>A (p.Arg3403Gln)
|
rs777437090
|
0.00001
|
NM_000540.3(RYR1):c.1020C>T (p.Tyr340=)
|
rs778349211
|
0.00001
|
NM_000540.3(RYR1):c.10234C>T (p.Leu3412Phe)
|
rs146754065
|
0.00001
|
NM_000540.3(RYR1):c.10275G>A (p.Thr3425=)
|
rs769992246
|
0.00001
|
NM_000540.3(RYR1):c.10307G>A (p.Arg3436Lys)
|
rs574486124
|
0.00001
|
NM_000540.3(RYR1):c.10318G>A (p.Glu3440Lys)
|
rs1971294742
|
0.00001
|
NM_000540.3(RYR1):c.10347+20G>A
|
rs746077453
|
0.00001
|
NM_000540.3(RYR1):c.10360G>A (p.Glu3454Lys)
|
rs1446961656
|
0.00001
|
NM_000540.3(RYR1):c.10383G>C (p.Gln3461His)
|
rs1159315581
|
0.00001
|
NM_000540.3(RYR1):c.1038C>T (p.Phe346=)
|
rs1333206146
|
0.00001
|
NM_000540.3(RYR1):c.10398C>T (p.Asn3466=)
|
rs1335486327
|
0.00001
|
NM_000540.3(RYR1):c.103T>C (p.Cys35Arg)
|
rs193922747
|
0.00001
|
NM_000540.3(RYR1):c.10434G>A (p.Met3478Ile)
|
rs764641752
|
0.00001
|
NM_000540.3(RYR1):c.10440+3C>T
|
rs564297039
|
0.00001
|
NM_000540.3(RYR1):c.10441-6A>G
|
rs765451004
|
0.00001
|
NM_000540.3(RYR1):c.10441-8T>C
|
rs755330618
|
0.00001
|
NM_000540.3(RYR1):c.10443G>A (p.Ala3481=)
|
rs375169031
|
0.00001
|
NM_000540.3(RYR1):c.10451T>C (p.Ile3484Thr)
|
rs757272442
|
0.00001
|
NM_000540.3(RYR1):c.10455+12A>G
|
rs769495426
|
0.00001
|
NM_000540.3(RYR1):c.10459G>A (p.Gly3487Ser)
|
rs371645169
|
0.00001
|
NM_000540.3(RYR1):c.10467G>A (p.Ser3489=)
|
rs751798987
|
0.00001
|
NM_000540.3(RYR1):c.10480A>G (p.Thr3494Ala)
|
rs779971797
|
0.00001
|
NM_000540.3(RYR1):c.10496G>C (p.Arg3499Pro)
|
rs138324438
|
0.00001
|
NM_000540.3(RYR1):c.10504C>T (p.Arg3502Trp)
|
rs375127981
|
0.00001
|
NM_000540.3(RYR1):c.10525C>T (p.Leu3509=)
|
rs1425243391
|
0.00001
|
NM_000540.3(RYR1):c.10530C>T (p.Ile3510=)
|
rs760656697
|
0.00001
|
NM_000540.3(RYR1):c.10548G>A (p.Lys3516=)
|
rs754753605
|
0.00001
|
NM_000540.3(RYR1):c.10582A>G (p.Thr3528Ala)
|
rs562359442
|
0.00001
|
NM_000540.3(RYR1):c.10594C>T (p.Leu3532Phe)
|
rs1131691407
|
0.00001
|
NM_000540.3(RYR1):c.10609A>G (p.Lys3537Glu)
|
rs1009040238
|
0.00001
|
NM_000540.3(RYR1):c.10627-4C>T
|
rs1489667781
|
0.00001
|
NM_000540.3(RYR1):c.10651G>A (p.Glu3551Lys)
|
rs753260772
|
0.00001
|
NM_000540.3(RYR1):c.10681G>A (p.Gly3561Arg)
|
rs771320029
|
0.00001
|
NM_000540.3(RYR1):c.10686+4T>C
|
rs1188156028
|
0.00001
|
NM_000540.3(RYR1):c.10694G>T (p.Gly3565Val)
|
rs761545088
|
0.00001
|
NM_000540.3(RYR1):c.10701G>A (p.Pro3567=)
|
rs771866213
|
0.00001
|
NM_000540.3(RYR1):c.10730G>A (p.Arg3577Gln)
|
rs372914229
|
0.00001
|
NM_000540.3(RYR1):c.10735G>A (p.Val3579Ile)
|
rs764650501
|
0.00001
|
NM_000540.3(RYR1):c.10749_10753del (p.Glu3584fs)
|
rs1412691915
|
0.00001
|
NM_000540.3(RYR1):c.10760A>G (p.Asp3587Gly)
|
rs778763130
|
0.00001
|
NM_000540.3(RYR1):c.10768G>A (p.Glu3590Lys)
|
rs746611627
|
0.00001
|
NM_000540.3(RYR1):c.10792G>A (p.Glu3598Lys)
|
rs1322440459
|
0.00001
|
NM_000540.3(RYR1):c.10857G>A (p.Val3619=)
|
rs1971572195
|
0.00001
|
NM_000540.3(RYR1):c.1087C>T (p.Pro363Ser)
|
rs367995800
|
0.00001
|
NM_000540.3(RYR1):c.10908C>T (p.Phe3636=)
|
rs375330731
|
0.00001
|
NM_000540.3(RYR1):c.10932G>C (p.Leu3644=)
|
rs1423966462
|
0.00001
|
NM_000540.3(RYR1):c.10937+11C>A
|
rs375255559
|
0.00001
|
NM_000540.3(RYR1):c.10937+1G>C
|
rs775682151
|
0.00001
|
NM_000540.3(RYR1):c.10953C>T (p.Asn3651=)
|
rs749570351
|
0.00001
|
NM_000540.3(RYR1):c.1100G>A (p.Arg367Gln)
|
rs113332073
|
0.00001
|
NM_000540.3(RYR1):c.1100G>T (p.Arg367Leu)
|
rs113332073
|
0.00001
|
NM_000540.3(RYR1):c.11062G>A (p.Glu3688Lys)
|
rs1471770778
|
0.00001
|
NM_000540.3(RYR1):c.1107C>T (p.Gly369=)
|
rs764461690
|
0.00001
|
NM_000540.3(RYR1):c.11119C>G (p.Arg3707Gly)
|
rs781379239
|
0.00001
|
NM_000540.3(RYR1):c.1113C>T (p.Leu371=)
|
rs781532906
|
0.00001
|
NM_000540.3(RYR1):c.11141+9T>G
|
rs765727775
|
0.00001
|
NM_000540.3(RYR1):c.11154G>A (p.Glu3718=)
|
rs776921141
|
0.00001
|
NM_000540.3(RYR1):c.11183T>C (p.Ile3728Thr)
|
rs757580935
|
0.00001
|
NM_000540.3(RYR1):c.11193+16C>G
|
rs373782352
|
0.00001
|
NM_000540.3(RYR1):c.11193+2T>C
|
rs1971785665
|
0.00001
|
NM_000540.3(RYR1):c.11193+3G>A
|
rs886054400
|
0.00001
|
NM_000540.3(RYR1):c.11213G>A (p.Gly3738Glu)
|
rs1349985442
|
0.00001
|
NM_000540.3(RYR1):c.11223C>T (p.Asn3741=)
|
rs565620143
|
0.00001
|
NM_000540.3(RYR1):c.11224G>A (p.Gly3742Ser)
|
rs774921643
|
0.00001
|
NM_000540.3(RYR1):c.11259+17G>A
|
rs765356654
|
0.00001
|
NM_000540.3(RYR1):c.11259+9G>T
|
rs766539819
|
0.00001
|
NM_000540.3(RYR1):c.11260-5C>T
|
rs747319417
|
0.00001
|
NM_000540.3(RYR1):c.11260-7T>G
|
rs1330899688
|
0.00001
|
NM_000540.3(RYR1):c.11283G>A (p.Arg3761=)
|
rs142386815
|
0.00001
|
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln)
|
rs193922839
|
0.00001
|
NM_000540.3(RYR1):c.11319G>A (p.Gly3773=)
|
rs1300746737
|
0.00001
|
NM_000540.3(RYR1):c.11329A>G (p.Met3777Val)
|
rs767480684
|
0.00001
|
NM_000540.3(RYR1):c.11334G>A (p.Val3778=)
|
rs750080558
|
0.00001
|
NM_000540.3(RYR1):c.11337G>A (p.Leu3779=)
|
rs755875434
|
0.00001
|
NM_000540.3(RYR1):c.1134C>T (p.His378=)
|
rs754061854
|
0.00001
|
NM_000540.3(RYR1):c.11359+23A>G
|
rs886038313
|
0.00001
|
NM_000540.3(RYR1):c.11481C>T (p.Phe3827=)
|
rs1230581832
|
0.00001
|
NM_000540.3(RYR1):c.11516+8C>T
|
rs574532127
|
0.00001
|
NM_000540.3(RYR1):c.1156G>A (p.Ala386Thr)
|
rs532700459
|
0.00001
|
NM_000540.3(RYR1):c.11578G>A (p.Glu3860Lys)
|
rs199737015
|
0.00001
|
NM_000540.3(RYR1):c.11582A>G (p.Asp3861Gly)
|
rs1219842381
|
0.00001
|
NM_000540.3(RYR1):c.11590+1G>T
|
rs113928116
|
0.00001
|
NM_000540.3(RYR1):c.11601C>T (p.Arg3867=)
|
rs1172859170
|
0.00001
|
NM_000540.3(RYR1):c.11608+2T>C
|
rs1443083095
|
0.00001
|
NM_000540.3(RYR1):c.11609-17C>G
|
rs886038314
|
0.00001
|
NM_000540.3(RYR1):c.1163C>T (p.Ser388Leu)
|
rs777892571
|
0.00001
|
NM_000540.3(RYR1):c.11667G>C (p.Leu3889Phe)
|
rs1245124748
|
0.00001
|
NM_000540.3(RYR1):c.11683A>G (p.Asn3895Asp)
|
rs544957104
|
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.11712A>G (p.Thr3904=)
|
rs199855195
|
0.00001
|
NM_000540.3(RYR1):c.11731A>G (p.Thr3911Ala)
|
rs200622493
|
0.00001
|
NM_000540.3(RYR1):c.11735T>A (p.Ile3912Asn)
|
rs150588606
|
0.00001
|
NM_000540.3(RYR1):c.11746A>G (p.Ile3916Val)
|
rs766503308
|
0.00001
|
NM_000540.3(RYR1):c.11751C>T (p.Cys3917=)
|
rs753757687
|
0.00001
|
NM_000540.3(RYR1):c.11769G>C (p.Leu3923=)
|
rs1379045486
|
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.11877G>A (p.Gln3959=)
|
rs745311427
|
0.00001
|
NM_000540.3(RYR1):c.11878G>C (p.Val3960Leu)
|
rs1064796578
|
0.00001
|
NM_000540.3(RYR1):c.11907+10T>G
|
rs1321807358
|
0.00001
|
NM_000540.3(RYR1):c.1197C>T (p.Ala399=)
|
rs540083191
|
0.00001
|
NM_000540.3(RYR1):c.12002A>G (p.Lys4001Arg)
|
rs1339166347
|
0.00001
|
NM_000540.3(RYR1):c.12013-16G>A
|
rs954863208
|
0.00001
|
NM_000540.3(RYR1):c.1204A>G (p.Met402Val)
|
rs766763626
|
0.00001
|
NM_000540.3(RYR1):c.12084G>A (p.Ser4028=)
|
rs571477269
|
0.00001
|
NM_000540.3(RYR1):c.12095-4G>A
|
rs769377982
|
0.00001
|
NM_000540.3(RYR1):c.12095-8G>A
|
rs1337974292
|
0.00001
|
NM_000540.3(RYR1):c.1209C>T (p.Ile403=)
|
rs118192116
|
0.00001
|
NM_000540.3(RYR1):c.12100G>A (p.Val4034Met)
|
rs372447264
|
0.00001
|
NM_000540.3(RYR1):c.12105G>A (p.Val4035=)
|
rs1409023227
|
0.00001
|
NM_000540.3(RYR1):c.12108C>T (p.Asn4036=)
|
rs189263702
|
0.00001
|
NM_000540.3(RYR1):c.12121C>T (p.Arg4041Trp)
|
rs144685735
|
0.00001
|
NM_000540.3(RYR1):c.12136A>G (p.Met4046Val)
|
rs777752603
|
0.00001
|
NM_000540.3(RYR1):c.12141C>T (p.Leu4047=)
|
rs1303442736
|
0.00001
|
NM_000540.3(RYR1):c.12158A>G (p.Asn4053Ser)
|
rs547269468
|
0.00001
|
NM_000540.3(RYR1):c.12160G>A (p.Val4054Met)
|
rs769642510
|
0.00001
|
NM_000540.3(RYR1):c.12183C>T (p.Phe4061=)
|
rs568688771
|
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.12226T>C (p.Phe4076Leu)
|
rs1298885611
|
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.12282+17G>A
|
rs547341665
|
0.00001
|
NM_000540.3(RYR1):c.12291C>A (p.Asp4097Glu)
|
rs749610835
|
0.00001
|
NM_000540.3(RYR1):c.12314C>G (p.Pro4105Arg)
|
rs1309530680
|
0.00001
|
NM_000540.3(RYR1):c.12342C>T (p.Ser4114=)
|
rs773227453
|
0.00001
|
NM_000540.3(RYR1):c.12343G>A (p.Glu4115Lys)
|
rs760759823
|
0.00001
|
NM_000540.3(RYR1):c.12375A>G (p.Glu4125=)
|
rs777577833
|
0.00001
|
NM_000540.3(RYR1):c.12406C>A (p.Arg4136Ser)
|
rs193922849
|
0.00001
|
NM_000540.3(RYR1):c.12429G>A (p.Ala4143=)
|
rs112288982
|
0.00001
|
NM_000540.3(RYR1):c.1244+16T>C
|
rs956142081
|
0.00001
|
NM_000540.3(RYR1):c.12449C>G (p.Ser4150Trp)
|
rs143843083
|
0.00001
|
NM_000540.3(RYR1):c.1247G>A (p.Ser416Asn)
|
rs1967148373
|
0.00001
|
NM_000540.3(RYR1):c.12498C>T (p.Ala4166=)
|
rs748446527
|
0.00001
|
NM_000540.3(RYR1):c.12507C>T (p.Ile4169=)
|
rs747307874
|
0.00001
|
NM_000540.3(RYR1):c.12522C>T (p.Arg4174=)
|
rs770889425
|
0.00001
|
NM_000540.3(RYR1):c.12554C>T (p.Ala4185Val)
|
rs764029140
|
0.00001
|
NM_000540.3(RYR1):c.12559C>T (p.Arg4187Cys)
|
rs761486041
|
0.00001
|
NM_000540.3(RYR1):c.12572G>A (p.Arg4191His)
|
rs765730833
|
0.00001
|
NM_000540.3(RYR1):c.12597C>T (p.Thr4199=)
|
rs145121064
|
0.00001
|
NM_000540.3(RYR1):c.12599A>T (p.Asn4200Ile)
|
rs199660276
|
0.00001
|
NM_000540.3(RYR1):c.12603C>T (p.Arg4201=)
|
rs1273187654
|
0.00001
|
NM_000540.3(RYR1):c.12608A>G (p.Gln4203Arg)
|
rs757438220
|
0.00001
|
NM_000540.3(RYR1):c.12616A>G (p.Met4206Val)
|
rs1253965850
|
0.00001
|
NM_000540.3(RYR1):c.12624+10C>T
|
rs886038317
|
0.00001
|
NM_000540.3(RYR1):c.12624+13G>A
|
rs1568576554
|
0.00001
|
NM_000540.3(RYR1):c.12624+1G>C
|
rs770054352
|
0.00001
|
NM_000540.3(RYR1):c.12625-8C>T
|
rs778720628
|
0.00001
|
NM_000540.3(RYR1):c.12639G>A (p.Lys4213=)
|
rs778680515
|
0.00001
|
NM_000540.3(RYR1):c.12642C>T (p.Arg4214=)
|
rs760363531
|
0.00001
|
NM_000540.3(RYR1):c.12711C>T (p.Cys4237=)
|
rs925859982
|
0.00001
|
NM_000540.3(RYR1):c.12744G>A (p.Ala4248=)
|
rs1302817442
|
0.00001
|
NM_000540.3(RYR1):c.12747G>C (p.Gln4249His)
|
rs1232214674
|
0.00001
|
NM_000540.3(RYR1):c.12750C>A (p.Ile4250=)
|
rs113553675
|
0.00001
|
NM_000540.3(RYR1):c.12759C>T (p.Pro4253=)
|
rs886038318
|
0.00001
|
NM_000540.3(RYR1):c.12769C>T (p.Pro4257Ser)
|
rs1205338973
|
0.00001
|
NM_000540.3(RYR1):c.12802G>A (p.Ala4268Thr)
|
rs886054404
|
0.00001
|
NM_000540.3(RYR1):c.12803C>G (p.Ala4268Gly)
|
rs774887304
|
0.00001
|
NM_000540.3(RYR1):c.12810G>C (p.Ala4270=)
|
rs977444384
|
0.00001
|
NM_000540.3(RYR1):c.12835G>A (p.Ala4279Thr)
|
rs766705028
|
0.00001
|
NM_000540.3(RYR1):c.12882G>A (p.Thr4294=)
|
rs1252311597
|
0.00001
|
NM_000540.3(RYR1):c.1290C>T (p.Pro430=)
|
rs748936965
|
0.00001
|
NM_000540.3(RYR1):c.12912C>T (p.Ala4304=)
|
rs1300115046
|
0.00001
|
NM_000540.3(RYR1):c.12943C>T (p.Arg4315Trp)
|
rs1477549475
|
0.00001
|
NM_000540.3(RYR1):c.12951G>A (p.Val4317=)
|
rs957481378
|
0.00001
|
NM_000540.3(RYR1):c.12962G>A (p.Arg4321Gln)
|
rs1313365429
|
0.00001
|
NM_000540.3(RYR1):c.1298C>T (p.Thr433Met)
|
rs773794000
|
0.00001
|
NM_000540.3(RYR1):c.13002G>A (p.Ala4334=)
|
rs1174169233
|
0.00001
|
NM_000540.3(RYR1):c.13018G>A (p.Val4340Met)
|
rs1186945915
|
0.00001
|
NM_000540.3(RYR1):c.13029T>G (p.Ala4343=)
|
rs1250000043
|
0.00001
|
NM_000540.3(RYR1):c.13036G>A (p.Ala4346Thr)
|
rs1296263427
|
0.00001
|
NM_000540.3(RYR1):c.13039G>A (p.Gly4347Ser)
|
rs1568583100
|
0.00001
|
NM_000540.3(RYR1):c.13048G>T (p.Ala4350Ser)
|
rs777783994
|
0.00001
|
NM_000540.3(RYR1):c.13062G>A (p.Ala4354=)
|
rs1285864293
|
0.00001
|
NM_000540.3(RYR1):c.13063C>T (p.Leu4355=)
|
rs1435062797
|
0.00001
|
NM_000540.3(RYR1):c.13069C>T (p.Leu4357=)
|
rs1236057233
|
0.00001
|
NM_000540.3(RYR1):c.13081T>A (p.Ser4361Thr)
|
rs746798861
|
0.00001
|
NM_000540.3(RYR1):c.13089C>A (p.Phe4363Leu)
|
rs757097846
|
0.00001
|
NM_000540.3(RYR1):c.13111G>A (p.Ala4371Thr)
|
rs1337566743
|
0.00001
|
NM_000540.3(RYR1):c.13120G>A (p.Val4374Met)
|
rs1973363499
|
0.00001
|
NM_000540.3(RYR1):c.13122G>A (p.Val4374=)
|
rs797045930
|
0.00001
|
NM_000540.3(RYR1):c.13142C>G (p.Ala4381Gly)
|
rs794727983
|
0.00001
|
NM_000540.3(RYR1):c.13164C>T (p.Ser4388=)
|
rs1160207470
|
0.00001
|
NM_000540.3(RYR1):c.13165G>A (p.Asp4389Asn)
|
rs774812209
|
0.00001
|
NM_000540.3(RYR1):c.13177G>A (p.Gly4393Ser)
|
rs1444800471
|
0.00001
|
NM_000540.3(RYR1):c.1317C>T (p.Gly439=)
|
rs1230243590
|
0.00001
|
NM_000540.3(RYR1):c.13188G>A (p.Pro4396=)
|
rs371061924
|
0.00001
|
NM_000540.3(RYR1):c.131G>A (p.Arg44His)
|
rs139161723
|
0.00001
|
NM_000540.3(RYR1):c.13216G>A (p.Glu4406Lys)
|
rs1286397169
|
0.00001
|
NM_000540.3(RYR1):c.13228G>C (p.Glu4410Gln)
|
rs776964609
|
0.00001
|
NM_000540.3(RYR1):c.13234G>A (p.Ala4412Thr)
|
rs759639541
|
0.00001
|
NM_000540.3(RYR1):c.13264G>A (p.Glu4422Lys)
|
rs1973376170
|
0.00001
|
NM_000540.3(RYR1):c.13370T>G (p.Met4457Arg)
|
rs1394722307
|
0.00001
|
NM_000540.3(RYR1):c.13378A>G (p.Thr4460Ala)
|
rs1381604416
|
0.00001
|
NM_000540.3(RYR1):c.13419C>T (p.Ile4473=)
|
rs1028389242
|
0.00001
|
NM_000540.3(RYR1):c.13438-18T>C
|
rs1555800500
|
0.00001
|
NM_000540.3(RYR1):c.13447G>A (p.Val4483Met)
|
rs1374937370
|
0.00001
|
NM_000540.3(RYR1):c.13459C>T (p.Leu4487Phe)
|
rs778529262
|
0.00001
|
NM_000540.3(RYR1):c.13470G>T (p.Glu4490Asp)
|
rs193922858
|
0.00001
|
NM_000540.3(RYR1):c.13479C>T (p.Pro4493=)
|
rs768885593
|
0.00001
|
NM_000540.3(RYR1):c.13482G>A (p.Glu4494=)
|
rs761884375
|
0.00001
|
NM_000540.3(RYR1):c.13483C>T (p.Pro4495Ser)
|
rs767437276
|
0.00001
|
NM_000540.3(RYR1):c.13484C>T (p.Pro4495Leu)
|
rs138929547
|
0.00001
|
NM_000540.3(RYR1):c.13512C>T (p.Ala4504=)
|
rs376229195
|
0.00001
|
NM_000540.3(RYR1):c.13514+16G>T
|
rs761877895
|
0.00001
|
NM_000540.3(RYR1):c.13519G>A (p.Glu4507Lys)
|
rs978180266
|
0.00001
|
NM_000540.3(RYR1):c.13525_13531dup (p.Lys4511fs)
|
rs928989953
|
0.00001
|
NM_000540.3(RYR1):c.13532A>G (p.Lys4511Arg)
|
rs923603327
|
0.00001
|
NM_000540.3(RYR1):c.1353C>T (p.Phe451=)
|
rs751586865
|
0.00001
|
NM_000540.3(RYR1):c.13548G>C (p.Glu4516Asp)
|
rs1057520187
|
0.00001
|
NM_000540.3(RYR1):c.13589C>T (p.Pro4530Leu)
|
rs754384042
|
0.00001
|
NM_000540.3(RYR1):c.13599G>A (p.Lys4533=)
|
rs1218373877
|
0.00001
|
NM_000540.3(RYR1):c.13635G>A (p.Leu4545=)
|
rs1445211923
|
0.00001
|
NM_000540.3(RYR1):c.13639G>A (p.Val4547Met)
|
rs907229842
|
0.00001
|
NM_000540.3(RYR1):c.13641G>A (p.Val4547=)
|
rs745756382
|
0.00001
|
NM_000540.3(RYR1):c.13660-35G>A
|
rs886038320
|
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.13724A>G (p.Asn4575Ser)
|
rs1568591803
|
0.00001
|
NM_000540.3(RYR1):c.13740T>C (p.Phe4580=)
|
rs1396114452
|
0.00001
|
NM_000540.3(RYR1):c.13746+9C>A
|
rs749233889
|
0.00001
|
NM_000540.3(RYR1):c.13747-4T>G
|
rs1287127447
|
0.00001
|
NM_000540.3(RYR1):c.13747G>A (p.Val4583Ile)
|
rs767849171
|
0.00001
|
NM_000540.3(RYR1):c.13776C>T (p.Asp4592=)
|
rs200427549
|
0.00001
|
NM_000540.3(RYR1):c.13799A>T (p.Asp4600Val)
|
rs929800544
|
0.00001
|
NM_000540.3(RYR1):c.13807G>C (p.Gly4603Arg)
|
rs373231458
|
0.00001
|
NM_000540.3(RYR1):c.13842G>T (p.Leu4614Phe)
|
rs775940719
|
0.00001
|
NM_000540.3(RYR1):c.13848C>T (p.Ala4616=)
|
rs1599649109
|
0.00001
|
NM_000540.3(RYR1):c.13874A>G (p.Asp4625Gly)
|
rs748287480
|
0.00001
|
NM_000540.3(RYR1):c.13881C>T (p.Asn4627=)
|
rs765079207
|
0.00001
|
NM_000540.3(RYR1):c.13885G>A (p.Val4629Met)
|
rs752668333
|
0.00001
|
NM_000540.3(RYR1):c.13907G>A (p.Ser4636Asn)
|
rs893897931
|
0.00001
|
NM_000540.3(RYR1):c.13926C>T (p.Pro4642=)
|
rs559685703
|
0.00001
|
NM_000540.3(RYR1):c.13989T>C (p.Asn4663=)
|
rs1414465486
|
0.00001
|
NM_000540.3(RYR1):c.13998+35T>A
|
rs886038321
|
0.00001
|
NM_000540.3(RYR1):c.13998+9A>G
|
rs1457942367
|
0.00001
|
NM_000540.3(RYR1):c.14002C>T (p.Pro4668Ser)
|
rs193922863
|
0.00001
|
NM_000540.3(RYR1):c.14021G>A (p.Arg4674Gln)
|
rs1328709837
|
0.00001
|
NM_000540.3(RYR1):c.14041A>C (p.Lys4681Gln)
|
rs1912187896
|
0.00001
|
NM_000540.3(RYR1):c.14129+10C>A
|
rs546280470
|
0.00001
|
NM_000540.3(RYR1):c.14129+13C>T
|
rs368032372
|
0.00001
|
NM_000540.3(RYR1):c.14129+1G>A
|
rs142929172
|
0.00001
|
NM_000540.3(RYR1):c.14129+7A>T
|
rs774437664
|
0.00001
|
NM_000540.3(RYR1):c.14129C>T (p.Pro4710Leu)
|
rs370212445
|
0.00001
|
NM_000540.3(RYR1):c.14130-13T>C
|
rs771833385
|
0.00001
|
NM_000540.3(RYR1):c.14130-2A>G
|
rs1457662393
|
0.00001
|
NM_000540.3(RYR1):c.14163C>G (p.Val4721=)
|
rs948958857
|
0.00001
|
NM_000540.3(RYR1):c.14167C>T (p.Arg4723Cys)
|
rs200473035
|
0.00001
|
NM_000540.3(RYR1):c.14170A>C (p.Lys4724Gln)
|
rs118192141
|
0.00001
|
NM_000540.3(RYR1):c.14189G>T (p.Gly4730Val)
|
rs763466452
|
0.00001
|
NM_000540.3(RYR1):c.1418G>A (p.Arg473His)
|
rs538087438
|
0.00001
|
NM_000540.3(RYR1):c.14204G>A (p.Arg4735Gln)
|
rs754190031
|
0.00001
|
NM_000540.3(RYR1):c.14209C>T (p.Arg4737Trp)
|
rs193922867
|
0.00001
|
NM_000540.3(RYR1):c.1422G>A (p.Gln474=)
|
rs193922767
|
0.00001
|
NM_000540.3(RYR1):c.14235C>A (p.Asp4745Glu)
|
rs1277398138
|
0.00001
|
NM_000540.3(RYR1):c.14239G>A (p.Ala4747Thr)
|
rs758668017
|
0.00001
|
NM_000540.3(RYR1):c.1423A>T (p.Ser475Cys)
|
rs771464102
|
0.00001
|
NM_000540.3(RYR1):c.14273A>G (p.Lys4758Arg)
|
rs1974034199
|
0.00001
|
NM_000540.3(RYR1):c.14274G>A (p.Lys4758=)
|
rs773793941
|
0.00001
|
NM_000540.3(RYR1):c.14286G>A (p.Pro4762=)
|
rs541627923
|
0.00001
|
NM_000540.3(RYR1):c.14295G>A (p.Leu4765=)
|
rs1457118798
|
0.00001
|
NM_000540.3(RYR1):c.14303+9A>G
|
rs1473103210
|
0.00001
|
NM_000540.3(RYR1):c.14324A>G (p.Lys4775Arg)
|
rs1193773891
|
0.00001
|
NM_000540.3(RYR1):c.14363A>G (p.Asn4788Ser)
|
rs200002533
|
0.00001
|
NM_000540.3(RYR1):c.14364+10G>A
|
rs1397022673
|
0.00001
|
NM_000540.3(RYR1):c.14390T>C (p.Met4797Thr)
|
rs991961585
|
0.00001
|
NM_000540.3(RYR1):c.1440+10T>A
|
rs768956311
|
0.00001
|
NM_000540.3(RYR1):c.1440+9G>A
|
rs763411899
|
0.00001
|
NM_000540.3(RYR1):c.1440G>A (p.Glu480=)
|
rs989350448
|
0.00001
|
NM_000540.3(RYR1):c.14418C>T (p.Asn4806=)
|
rs751271794
|
0.00001
|
NM_000540.3(RYR1):c.14474G>A (p.Arg4825His)
|
rs193922875
|
0.00001
|
NM_000540.3(RYR1):c.14512-1G>A
|
rs1064793932
|
0.00001
|
NM_000540.3(RYR1):c.14512-31C>T
|
rs201360796
|
0.00001
|
NM_000540.3(RYR1):c.14544C>T (p.Val4848=)
|
rs1300663668
|
0.00001
|
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile)
|
rs118192168
|
0.00001
|
NM_000540.3(RYR1):c.14628G>A (p.Lys4876=)
|
rs1395234830
|
0.00001
|
NM_000540.3(RYR1):c.14645C>T (p.Thr4882Met)
|
rs193922884
|
0.00001
|
NM_000540.3(RYR1):c.14646+18C>T
|
rs766140589
|
0.00001
|
NM_000540.3(RYR1):c.14685C>T (p.Gly4895=)
|
rs376144636
|
0.00001
|
NM_000540.3(RYR1):c.14701G>A (p.Glu4901Lys)
|
rs764602570
|
0.00001
|
NM_000540.3(RYR1):c.14706C>T (p.Ile4902=)
|
rs886054411
|
0.00001
|
NM_000540.3(RYR1):c.14715C>T (p.Pro4905=)
|
rs1285790820
|
0.00001
|
NM_000540.3(RYR1):c.14718G>A (p.Ala4906=)
|
rs575960373
|
0.00001
|
NM_000540.3(RYR1):c.14730C>T (p.Tyr4910=)
|
rs755262240
|
0.00001
|
NM_000540.3(RYR1):c.14772C>T (p.Phe4924=)
|
rs777921199
|
0.00001
|
NM_000540.3(RYR1):c.14803+9T>C
|
rs774850935
|
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.14851G>A (p.Val4951Met)
|
rs1974468078
|
0.00001
|
NM_000540.3(RYR1):c.14869-5C>G
|
rs1199304403
|
0.00001
|
NM_000540.3(RYR1):c.14913G>A (p.Thr4971=)
|
rs376180682
|
0.00001
|
NM_000540.3(RYR1):c.14917C>T (p.Pro4973Ser)
|
rs747622915
|
0.00001
|
NM_000540.3(RYR1):c.14934T>A (p.Thr4978=)
|
rs763467374
|
0.00001
|
NM_000540.3(RYR1):c.14939C>T (p.Thr4980Met)
|
rs398123471
|
0.00001
|
NM_000540.3(RYR1):c.14940G>A (p.Thr4980=)
|
rs765570755
|
0.00001
|
NM_000540.3(RYR1):c.14942T>C (p.Leu4981Pro)
|
rs761963097
|
0.00001
|
NM_000540.3(RYR1):c.14964T>A (p.Asn4988Lys)
|
rs760607196
|
0.00001
|
NM_000540.3(RYR1):c.14969+15T>G
|
rs1178766903
|
0.00001
|
NM_000540.3(RYR1):c.15003G>A (p.Glu5001=)
|
rs1287642117
|
0.00001
|
NM_000540.3(RYR1):c.15012C>A (p.His5004Gln)
|
rs1974498761
|
0.00001
|
NM_000540.3(RYR1):c.15014C>T (p.Thr5005Met)
|
rs763710371
|
0.00001
|
NM_000540.3(RYR1):c.15021G>C (p.Gln5007His)
|
rs376293495
|
0.00001
|
NM_000540.3(RYR1):c.15022-11C>T
|
rs763780717
|
0.00001
|
NM_000540.3(RYR1):c.15022-14A>G
|
rs1355487795
|
0.00001
|
NM_000540.3(RYR1):c.15088C>T (p.Arg5030Cys)
|
rs374070555
|
0.00001
|
NM_000540.3(RYR1):c.150C>G (p.Pro50=)
|
rs554528443
|
0.00001
|
NM_000540.3(RYR1):c.1576+6G>A
|
rs886038324
|
0.00001
|
NM_000540.3(RYR1):c.1577-5C>G
|
rs778100574
|
0.00001
|
NM_000540.3(RYR1):c.1577-8C>A
|
rs755673252
|
0.00001
|
NM_000540.3(RYR1):c.1595A>G (p.Asn532Ser)
|
rs780036569
|
0.00001
|
NM_000540.3(RYR1):c.1597C>T (p.Arg533Cys)
|
rs193922768
|
0.00001
|
NM_000540.3(RYR1):c.163C>T (p.Gln55Ter)
|
rs779061307
|
0.00001
|
NM_000540.3(RYR1):c.1655G>A (p.Arg552Gln)
|
rs772978260
|
0.00001
|
NM_000540.3(RYR1):c.1674C>T (p.Gly558=)
|
rs1212717189
|
0.00001
|
NM_000540.3(RYR1):c.1690T>C (p.Tyr564His)
|
rs767862786
|
0.00001
|
NM_000540.3(RYR1):c.1715A>C (p.Glu572Ala)
|
rs779551357
|
0.00001
|
NM_000540.3(RYR1):c.1739A>G (p.Asn580Ser)
|
rs373301841
|
0.00001
|
NM_000540.3(RYR1):c.1746C>T (p.Ile582=)
|
rs377489549
|
0.00001
|
NM_000540.3(RYR1):c.178G>A (p.Asp60Asn)
|
rs118192160
|
0.00001
|
NM_000540.3(RYR1):c.1791+4G>A
|
rs770581392
|
0.00001
|
NM_000540.3(RYR1):c.1792-8A>T
|
rs746765869
|
0.00001
|
NM_000540.3(RYR1):c.1792G>A (p.Val598Ile)
|
rs930876441
|
0.00001
|
NM_000540.3(RYR1):c.1834G>A (p.Ala612Thr)
|
rs118204423
|
0.00001
|
NM_000540.3(RYR1):c.1866G>A (p.Glu622=)
|
rs763152247
|
0.00001
|
NM_000540.3(RYR1):c.186C>T (p.Ala62=)
|
rs762859884
|
0.00001
|
NM_000540.3(RYR1):c.1882C>T (p.Arg628Cys)
|
rs757284447
|
0.00001
|
NM_000540.3(RYR1):c.1902A>G (p.Thr634=)
|
rs751310164
|
0.00001
|
NM_000540.3(RYR1):c.1909A>G (p.Ile637Val)
|
rs567084532
|
0.00001
|
NM_000540.3(RYR1):c.1916A>G (p.Tyr639Cys)
|
rs747459771
|
0.00001
|
NM_000540.3(RYR1):c.1926-18G>C
|
rs774226414
|
0.00001
|
NM_000540.3(RYR1):c.1926-9C>T
|
rs374960200
|
0.00001
|
NM_000540.3(RYR1):c.1931G>A (p.Arg644His)
|
rs766150328
|
0.00001
|
NM_000540.3(RYR1):c.1935C>T (p.Pro645=)
|
rs753681666
|
0.00001
|
NM_000540.3(RYR1):c.1943T>C (p.Phe648Ser)
|
rs1251940779
|
0.00001
|
NM_000540.3(RYR1):c.1951C>T (p.Arg651Ter)
|
rs754522209
|
0.00001
|
NM_000540.3(RYR1):c.1967C>T (p.Thr656Met)
|
rs4802472
|
0.00001
|
NM_000540.3(RYR1):c.1968G>A (p.Thr656=)
|
rs779450532
|
0.00001
|
NM_000540.3(RYR1):c.1983G>A (p.Trp661Ter)
|
rs1305971341
|
0.00001
|
NM_000540.3(RYR1):c.198C>T (p.Phe66=)
|
rs774088746
|
0.00001
|
NM_000540.3(RYR1):c.199G>A (p.Val67Ile)
|
rs761182247
|
0.00001
|
NM_000540.3(RYR1):c.202C>T (p.Leu68=)
|
rs1166612320
|
0.00001
|
NM_000540.3(RYR1):c.2037C>A (p.Thr679=)
|
rs571569206
|
0.00001
|
NM_000540.3(RYR1):c.2064C>T (p.Thr688=)
|
rs764993324
|
0.00001
|
NM_000540.3(RYR1):c.2065G>A (p.Glu689Lys)
|
rs144845360
|
0.00001
|
NM_000540.3(RYR1):c.2068G>A (p.Gly690Ser)
|
rs1225286685
|
0.00001
|
NM_000540.3(RYR1):c.2073C>T (p.Tyr691=)
|
rs758187445
|
0.00001
|
NM_000540.3(RYR1):c.2092G>A (p.Gly698Ser)
|
rs866990461
|
0.00001
|
NM_000540.3(RYR1):c.2095G>A (p.Glu699Lys)
|
rs553882104
|
0.00001
|
NM_000540.3(RYR1):c.2106C>T (p.Gly702=)
|
rs772295428
|
0.00001
|
NM_000540.3(RYR1):c.2108G>A (p.Gly703Asp)
|
rs1448234735
|
0.00001
|
NM_000540.3(RYR1):c.2113G>A (p.Gly705Arg)
|
rs565825739
|
0.00001
|
NM_000540.3(RYR1):c.2119G>A (p.Gly707Ser)
|
rs376526576
|
0.00001
|
NM_000540.3(RYR1):c.2132A>G (p.Tyr711Cys)
|
rs1967529389
|
0.00001
|
NM_000540.3(RYR1):c.2139C>T (p.Tyr713=)
|
rs761428539
|
0.00001
|
NM_000540.3(RYR1):c.2151A>G (p.Gly717=)
|
rs1366028042
|
0.00001
|
NM_000540.3(RYR1):c.2167G>A (p.Gly723Arg)
|
rs755496104
|
0.00001
|
NM_000540.3(RYR1):c.2173G>A (p.Val725Met)
|
rs200698933
|
0.00001
|
NM_000540.3(RYR1):c.2179C>T (p.Arg727Cys)
|
rs781271902
|
0.00001
|
NM_000540.3(RYR1):c.223C>T (p.Arg75Ter)
|
rs1346649518
|
0.00001
|
NM_000540.3(RYR1):c.2255C>T (p.Pro752Leu)
|
rs201229451
|
0.00001
|
NM_000540.3(RYR1):c.2278G>A (p.Gly760Ser)
|
rs778783052
|
0.00001
|
NM_000540.3(RYR1):c.2292G>C (p.Gln764His)
|
rs776172759
|
0.00001
|
NM_000540.3(RYR1):c.2293G>C (p.Gly765Arg)
|
rs1380227293
|
0.00001
|
NM_000540.3(RYR1):c.2325C>T (p.Leu775=)
|
rs536224296
|
0.00001
|
NM_000540.3(RYR1):c.2361-4C>G
|
rs753918895
|
0.00001
|
NM_000540.3(RYR1):c.2371C>A (p.Leu791Ile)
|
rs1001953442
|
0.00001
|
NM_000540.3(RYR1):c.2400G>T (p.Lys800Asn)
|
rs1967664475
|
0.00001
|
NM_000540.3(RYR1):c.2430C>T (p.Cys810=)
|
rs1371069319
|
0.00001
|
NM_000540.3(RYR1):c.2437G>T (p.Ala813Ser)
|
rs558181103
|
0.00001
|
NM_000540.3(RYR1):c.2445C>T (p.Leu815=)
|
rs773408738
|
0.00001
|
NM_000540.3(RYR1):c.2446C>T (p.Pro816Ser)
|
rs761141862
|
0.00001
|
NM_000540.3(RYR1):c.2455C>T (p.Arg819Ter)
|
rs193922774
|
0.00001
|
NM_000540.3(RYR1):c.2461C>A (p.His821Asn)
|
rs764127808
|
0.00001
|
NM_000540.3(RYR1):c.2485C>G (p.Arg829Gly)
|
rs778320565
|
0.00001
|
NM_000540.3(RYR1):c.2486G>A (p.Arg829Gln)
|
rs372652716
|
0.00001
|
NM_000540.3(RYR1):c.2522C>T (p.Pro841Leu)
|
rs368051427
|
0.00001
|
NM_000540.3(RYR1):c.2533C>T (p.Leu845Phe)
|
rs201545585
|
0.00001
|
NM_000540.3(RYR1):c.2535C>T (p.Leu845=)
|
rs754478694
|
0.00001
|
NM_000540.3(RYR1):c.2550C>T (p.Phe850=)
|
rs757850226
|
0.00001
|
NM_000540.3(RYR1):c.255G>T (p.Val85=)
|
rs532101469
|
0.00001
|
NM_000540.3(RYR1):c.2561C>A (p.Pro854His)
|
rs1314566176
|
0.00001
|
NM_000540.3(RYR1):c.2577+1G>A
|
rs1416605332
|
0.00001
|
NM_000540.3(RYR1):c.2578-8G>A
|
rs1967894369
|
0.00001
|
NM_000540.3(RYR1):c.2589G>A (p.Pro863=)
|
rs533971791
|
0.00001
|
NM_000540.3(RYR1):c.2602C>T (p.Arg868Cys)
|
rs138020885
|
0.00001
|
NM_000540.3(RYR1):c.2608C>T (p.Arg870Trp)
|
rs573876812
|
0.00001
|
NM_000540.3(RYR1):c.2621C>T (p.Ala874Val)
|
rs779130363
|
0.00001
|
NM_000540.3(RYR1):c.2629A>G (p.Ile877Val)
|
rs1450654907
|
0.00001
|
NM_000540.3(RYR1):c.2646G>A (p.Ala882=)
|
rs375163703
|
0.00001
|
NM_000540.3(RYR1):c.265G>A (p.Val89Met)
|
rs757600766
|
0.00001
|
NM_000540.3(RYR1):c.2672C>T (p.Thr891Ile)
|
rs1283564361
|
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.2686C>T (p.Arg896Trp)
|
rs371050482
|
0.00001
|
NM_000540.3(RYR1):c.2688G>A (p.Arg896=)
|
rs756136148
|
0.00001
|
NM_000540.3(RYR1):c.2709C>G (p.His903Gln)
|
rs1007637405
|
0.00001
|
NM_000540.3(RYR1):c.271-6C>G
|
rs1162128403
|
0.00001
|
NM_000540.3(RYR1):c.2823G>A (p.Ala941=)
|
rs750305530
|
0.00001
|
NM_000540.3(RYR1):c.282C>T (p.Gly94=)
|
rs139629035
|
0.00001
|
NM_000540.3(RYR1):c.2861T>C (p.Leu954Pro)
|
rs1183111020
|
0.00001
|
NM_000540.3(RYR1):c.2867A>G (p.Lys956Arg)
|
rs1410667812
|
0.00001
|
NM_000540.3(RYR1):c.2870C>T (p.Thr957Met)
|
rs201827275
|
0.00001
|
NM_000540.3(RYR1):c.2871-4G>A
|
rs762932739
|
0.00001
|
NM_000540.3(RYR1):c.2871-6C>T
|
rs765268968
|
0.00001
|
NM_000540.3(RYR1):c.288A>G (p.Gly96=)
|
rs1015445310
|
0.00001
|
NM_000540.3(RYR1):c.2895G>A (p.Lys965=)
|
rs751363058
|
0.00001
|
NM_000540.3(RYR1):c.2897C>T (p.Pro966Leu)
|
rs143179371
|
0.00001
|
NM_000540.3(RYR1):c.2898G>A (p.Pro966=)
|
rs1364374466
|
0.00001
|
NM_000540.3(RYR1):c.2924G>A (p.Arg975Gln)
|
rs778241277
|
0.00001
|
NM_000540.3(RYR1):c.2931G>A (p.Thr977=)
|
rs771471004
|
0.00001
|
NM_000540.3(RYR1):c.2946A>G (p.Thr982=)
|
rs774087940
|
0.00001
|
NM_000540.3(RYR1):c.2957G>A (p.Arg986His)
|
rs1407854476
|
0.00001
|
NM_000540.3(RYR1):c.2966A>G (p.Glu989Gly)
|
rs760305558
|
0.00001
|
NM_000540.3(RYR1):c.2997C>T (p.Arg999=)
|
rs371603625
|
0.00001
|
NM_000540.3(RYR1):c.300C>T (p.Leu100=)
|
rs1342502384
|
0.00001
|
NM_000540.3(RYR1):c.3014G>A (p.Ser1005Asn)
|
rs780145264
|
0.00001
|
NM_000540.3(RYR1):c.3037C>T (p.Pro1013Ser)
|
rs1968097908
|
0.00001
|
NM_000540.3(RYR1):c.3041C>T (p.Ala1014Val)
|
rs528184462
|
0.00001
|
NM_000540.3(RYR1):c.3044G>A (p.Arg1015His)
|
rs1202647394
|
0.00001
|
NM_000540.3(RYR1):c.3055C>T (p.Arg1019Trp)
|
rs757715804
|
0.00001
|
NM_000540.3(RYR1):c.3056G>A (p.Arg1019Gln)
|
rs781550981
|
0.00001
|
NM_000540.3(RYR1):c.3132C>A (p.Thr1044=)
|
rs754047080
|
0.00001
|
NM_000540.3(RYR1):c.3145G>A (p.Gly1049Ser)
|
rs990842315
|
0.00001
|
NM_000540.3(RYR1):c.3153C>T (p.Asn1051=)
|
rs915828603
|
0.00001
|
NM_000540.3(RYR1):c.3164C>G (p.Pro1055Arg)
|
rs1254584171
|
0.00001
|
NM_000540.3(RYR1):c.3178+18G>T
|
rs1568462251
|
0.00001
|
NM_000540.3(RYR1):c.3182A>G (p.Gln1061Arg)
|
rs555354948
|
0.00001
|
NM_000540.3(RYR1):c.318C>T (p.Ile106=)
|
rs1388550300
|
0.00001
|
NM_000540.3(RYR1):c.3200G>A (p.Arg1067His)
|
rs377381782
|
0.00001
|
NM_000540.3(RYR1):c.3202T>C (p.Cys1068Arg)
|
rs1057518768
|
0.00001
|
NM_000540.3(RYR1):c.3215G>A (p.Arg1072His)
|
rs757261781
|
0.00001
|
NM_000540.3(RYR1):c.3217A>G (p.Ile1073Val)
|
rs781092447
|
0.00001
|
NM_000540.3(RYR1):c.3218T>C (p.Ile1073Thr)
|
rs769763365
|
0.00001
|
NM_000540.3(RYR1):c.3223C>T (p.Arg1075Trp)
|
rs573649990
|
0.00001
|
NM_000540.3(RYR1):c.3224G>A (p.Arg1075Gln)
|
rs749040743
|
0.00001
|
NM_000540.3(RYR1):c.3235_3240dup (p.Ser1079_Tyr1080dup)
|
rs797045933
|
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.328C>T (p.His110Tyr)
|
rs767777113
|
0.00001
|
NM_000540.3(RYR1):c.3299G>A (p.Arg1100His)
|
rs755973279
|
0.00001
|
NM_000540.3(RYR1):c.3300C>T (p.Arg1100=)
|
rs779962133
|
0.00001
|
NM_000540.3(RYR1):c.3301G>A (p.Val1101Met)
|
rs145088074
|
0.00001
|
NM_000540.3(RYR1):c.3312G>A (p.Ala1104=)
|
rs1057521916
|
0.00001
|
NM_000540.3(RYR1):c.3315G>T (p.Arg1105Ser)
|
rs1469007491
|
0.00001
|
NM_000540.3(RYR1):c.3321G>A (p.Glu1107=)
|
rs1272169043
|
0.00001
|
NM_000540.3(RYR1):c.3332A>T (p.Asp1111Val)
|
rs948252701
|
0.00001
|
NM_000540.3(RYR1):c.3358G>A (p.Ala1120Thr)
|
rs1968189676
|
0.00001
|
NM_000540.3(RYR1):c.3362A>G (p.Tyr1121Cys)
|
rs756138074
|
0.00001
|
NM_000540.3(RYR1):c.3371A>G (p.Asn1124Ser)
|
rs377285238
|
0.00001
|
NM_000540.3(RYR1):c.3381+5G>A
|
rs199691436
|
0.00001
|
NM_000540.3(RYR1):c.3382G>A (p.Gly1128Ser)
|
rs773310568
|
0.00001
|
NM_000540.3(RYR1):c.3396C>G (p.His1132Gln)
|
rs572636254
|
0.00001
|
NM_000540.3(RYR1):c.33G>A (p.Gln11=)
|
rs1600608864
|
0.00001
|
NM_000540.3(RYR1):c.3418C>T (p.Arg1140Cys)
|
rs193922776
|
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.3436G>A (p.Asp1146Asn)
|
rs765011921
|
0.00001
|
NM_000540.3(RYR1):c.3463A>G (p.Thr1155Ala)
|
rs183262321
|
0.00001
|
NM_000540.3(RYR1):c.3523G>A (p.Glu1175Lys)
|
rs769744438
|
0.00001
|
NM_000540.3(RYR1):c.3535C>T (p.Arg1179Trp)
|
rs763944786
|
0.00001
|
NM_000540.3(RYR1):c.3536G>A (p.Arg1179Gln)
|
rs1370928636
|
0.00001
|
NM_000540.3(RYR1):c.353G>A (p.Ser118Asn)
|
rs766569166
|
0.00001
|
NM_000540.3(RYR1):c.3591G>A (p.Gln1197=)
|
rs1475734095
|
0.00001
|
NM_000540.3(RYR1):c.362C>G (p.Thr121Ser)
|
rs371874847
|
0.00001
|
NM_000540.3(RYR1):c.3667G>A (p.Glu1223Lys)
|
rs936513262
|
0.00001
|
NM_000540.3(RYR1):c.3679A>G (p.Ile1227Val)
|
rs746166976
|
0.00001
|
NM_000540.3(RYR1):c.3686T>C (p.Met1229Thr)
|
rs750057461
|
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.3719G>T (p.Gly1240Val)
|
rs1374486975
|
0.00001
|
NM_000540.3(RYR1):c.3761A>G (p.Tyr1254Cys)
|
rs374083094
|
0.00001
|
NM_000540.3(RYR1):c.3765+24C>T
|
rs886038327
|
0.00001
|
NM_000540.3(RYR1):c.3766-6C>A
|
rs748186239
|
0.00001
|
NM_000540.3(RYR1):c.376A>G (p.Met126Val)
|
rs146065960
|
0.00001
|
NM_000540.3(RYR1):c.3816C>T (p.Thr1272=)
|
rs372061013
|
0.00001
|
NM_000540.3(RYR1):c.3826T>A (p.Trp1276Arg)
|
rs754104129
|
0.00001
|
NM_000540.3(RYR1):c.3835C>A (p.Gln1279Lys)
|
rs1249689187
|
0.00001
|
NM_000540.3(RYR1):c.3873C>T (p.Ser1291=)
|
rs769127451
|
0.00001
|
NM_000540.3(RYR1):c.3901C>T (p.Arg1301Cys)
|
rs745920741
|
0.00001
|
NM_000540.3(RYR1):c.3968G>C (p.Arg1323Pro)
|
rs771230451
|
0.00001
|
NM_000540.3(RYR1):c.3981C>G (p.Pro1327=)
|
rs763082630
|
0.00001
|
NM_000540.3(RYR1):c.3999C>T (p.Asn1333=)
|
rs1013808700
|
0.00001
|
NM_000540.3(RYR1):c.4006C>A (p.Arg1336Ser)
|
rs755911690
|
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.4083G>A (p.Pro1361=)
|
rs764202932
|
0.00001
|
NM_000540.3(RYR1):c.408G>A (p.Leu136=)
|
rs756918282
|
0.00001
|
NM_000540.3(RYR1):c.40C>A (p.Arg14=)
|
rs200665559
|
0.00001
|
NM_000540.3(RYR1):c.4122T>A (p.Asn1374Lys)
|
rs886054382
|
0.00001
|
NM_000540.3(RYR1):c.4160+19A>G
|
rs1252866697
|
0.00001
|
NM_000540.3(RYR1):c.4160+1G>A
|
rs113460156
|
0.00001
|
NM_000540.3(RYR1):c.4186G>A (p.Ala1396Thr)
|
rs772111760
|
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.425-7C>T
|
rs757005007
|
0.00001
|
NM_000540.3(RYR1):c.4250C>T (p.Ala1417Val)
|
rs779275405
|
0.00001
|
NM_000540.3(RYR1):c.4259G>A (p.Arg1420His)
|
rs150499158
|
0.00001
|
NM_000540.3(RYR1):c.4260C>T (p.Arg1420=)
|
rs776585397
|
0.00001
|
NM_000540.3(RYR1):c.4273A>G (p.Ile1425Val)
|
rs762596904
|
0.00001
|
NM_000540.3(RYR1):c.4284C>T (p.Asn1428=)
|
rs139622869
|
0.00001
|
NM_000540.3(RYR1):c.4293+9C>T
|
rs753826434
|
0.00001
|
NM_000540.3(RYR1):c.4293G>A (p.Thr1431=)
|
rs727504130
|
0.00001
|
NM_000540.3(RYR1):c.4318G>T (p.Ala1440Ser)
|
rs1037124193
|
0.00001
|
NM_000540.3(RYR1):c.4327G>A (p.Glu1443Lys)
|
rs747311834
|
0.00001
|
NM_000540.3(RYR1):c.4338C>T (p.Cys1446=)
|
rs534607272
|
0.00001
|
NM_000540.3(RYR1):c.4390G>A (p.Asp1464Asn)
|
rs368396727
|
0.00001
|
NM_000540.3(RYR1):c.4400A>G (p.Lys1467Arg)
|
rs145573319
|
0.00001
|
NM_000540.3(RYR1):c.4406G>A (p.Arg1469Gln)
|
rs1346919204
|
0.00001
|
NM_000540.3(RYR1):c.4410C>T (p.Val1470=)
|
rs750478395
|
0.00001
|
NM_000540.3(RYR1):c.4417G>T (p.Val1473Leu)
|
rs1263847987
|
0.00001
|
NM_000540.3(RYR1):c.4444G>A (p.Val1482Ile)
|
rs747718728
|
0.00001
|
NM_000540.3(RYR1):c.4454+6G>A
|
rs771877667
|
0.00001
|
NM_000540.3(RYR1):c.4466G>A (p.Ser1489Asn)
|
rs34404839
|
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.4495T>G (p.Phe1499Val)
|
rs1375580585
|
0.00001
|
NM_000540.3(RYR1):c.45+6T>C
|
rs1230846317
|
0.00001
|
NM_000540.3(RYR1):c.4532C>T (p.Thr1511Met)
|
rs746617941
|
0.00001
|
NM_000540.3(RYR1):c.4533G>A (p.Thr1511=)
|
rs147901772
|
0.00001
|
NM_000540.3(RYR1):c.4578G>A (p.Met1526Ile)
|
rs769254362
|
0.00001
|
NM_000540.3(RYR1):c.4581C>T (p.Thr1527=)
|
rs1968860004
|
0.00001
|
NM_000540.3(RYR1):c.459C>T (p.Ser153=)
|
rs894468761
|
0.00001
|
NM_000540.3(RYR1):c.46-10G>A
|
rs1972632890
|
0.00001
|
NM_000540.3(RYR1):c.46-1G>A
|
rs1238479593
|
0.00001
|
NM_000540.3(RYR1):c.46-5C>T
|
rs774388278
|
0.00001
|
NM_000540.3(RYR1):c.4620+9A>G
|
rs772356837
|
0.00001
|
NM_000540.3(RYR1):c.4621-10C>G
|
rs552821801
|
0.00001
|
NM_000540.3(RYR1):c.462G>A (p.Lys154=)
|
rs771222797
|
0.00001
|
NM_000540.3(RYR1):c.4633A>G (p.Thr1545Ala)
|
rs1386118815
|
0.00001
|
NM_000540.3(RYR1):c.4650C>T (p.Ala1550=)
|
rs200600174
|
0.00001
|
NM_000540.3(RYR1):c.4671C>T (p.His1557=)
|
rs996718540
|
0.00001
|
NM_000540.3(RYR1):c.4715T>C (p.Met1572Thr)
|
rs1165213387
|
0.00001
|
NM_000540.3(RYR1):c.4718C>T (p.Pro1573Leu)
|
rs774364705
|
0.00001
|
NM_000540.3(RYR1):c.4744G>A (p.Glu1582Lys)
|
rs1200734670
|
0.00001
|
NM_000540.3(RYR1):c.4766A>C (p.Gln1589Pro)
|
rs780420237
|
0.00001
|
NM_000540.3(RYR1):c.4775C>T (p.Pro1592Leu)
|
rs193922777
|
0.00001
|
NM_000540.3(RYR1):c.4776G>A (p.Pro1592=)
|
rs749525858
|
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.4816C>T (p.Arg1606Cys)
|
rs774316371
|
0.00001
|
NM_000540.3(RYR1):c.4817G>A (p.Arg1606His)
|
rs368399715
|
0.00001
|
NM_000540.3(RYR1):c.4853G>A (p.Arg1618His)
|
rs957392274
|
0.00001
|
NM_000540.3(RYR1):c.4873T>C (p.Trp1625Arg)
|
rs1568481617
|
0.00001
|
NM_000540.3(RYR1):c.4879G>A (p.Val1627Met)
|
rs568486136
|
0.00001
|
NM_000540.3(RYR1):c.488G>A (p.Arg163His)
|
rs193922753
|
0.00001
|
NM_000540.3(RYR1):c.4895C>T (p.Pro1632Leu)
|
rs773015838
|
0.00001
|
NM_000540.3(RYR1):c.4899G>A (p.Leu1633=)
|
rs1324779412
|
0.00001
|
NM_000540.3(RYR1):c.4923C>T (p.Pro1641=)
|
rs759369980
|
0.00001
|
NM_000540.3(RYR1):c.4927G>A (p.Glu1643Lys)
|
rs1197255639
|
0.00001
|
NM_000540.3(RYR1):c.4934+45C>T
|
rs886038334
|
0.00001
|
NM_000540.3(RYR1):c.4934G>A (p.Arg1645Gln)
|
rs193922778
|
0.00001
|
NM_000540.3(RYR1):c.4935-29T>C
|
rs886038335
|
0.00001
|
NM_000540.3(RYR1):c.4958C>T (p.Ser1653Leu)
|
rs1043661945
|
0.00001
|
NM_000540.3(RYR1):c.4978C>G (p.Arg1660Gly)
|
rs1131691406
|
0.00001
|
NM_000540.3(RYR1):c.4979G>A (p.Arg1660His)
|
rs200625526
|
0.00001
|
NM_000540.3(RYR1):c.5007C>T (p.Tyr1669=)
|
rs765636013
|
0.00001
|
NM_000540.3(RYR1):c.5009G>A (p.Arg1670His)
|
rs1248039154
|
0.00001
|
NM_000540.3(RYR1):c.5019C>T (p.Cys1673=)
|
rs543026464
|
0.00001
|
NM_000540.3(RYR1):c.5020G>A (p.Ala1674Thr)
|
rs1460141666
|
0.00001
|
NM_000540.3(RYR1):c.5033A>G (p.Asn1678Ser)
|
rs781104539
|
0.00001
|
NM_000540.3(RYR1):c.5047G>A (p.Ala1683Thr)
|
rs1455863679
|
0.00001
|
NM_000540.3(RYR1):c.5061C>T (p.His1687=)
|
rs1287517085
|
0.00001
|
NM_000540.3(RYR1):c.5079G>T (p.Leu1693=)
|
rs1179759234
|
0.00001
|
NM_000540.3(RYR1):c.5085C>T (p.His1695=)
|
rs562668984
|
0.00001
|
NM_000540.3(RYR1):c.5092G>A (p.Glu1698Lys)
|
rs763281057
|
0.00001
|
NM_000540.3(RYR1):c.5098G>A (p.Ala1700Thr)
|
rs751849934
|
0.00001
|
NM_000540.3(RYR1):c.5099C>T (p.Ala1700Val)
|
rs757262970
|
0.00001
|
NM_000540.3(RYR1):c.5132A>G (p.Tyr1711Cys)
|
rs754785770
|
0.00001
|
NM_000540.3(RYR1):c.5155C>A (p.Leu1719Ile)
|
rs771648635
|
0.00001
|
NM_000540.3(RYR1):c.516T>C (p.Ser172=)
|
rs1388481999
|
0.00001
|
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe)
|
rs193922781
|
0.00001
|
NM_000540.3(RYR1):c.5198A>C (p.Tyr1733Ser)
|
rs548973328
|
0.00001
|
NM_000540.3(RYR1):c.5255G>A (p.Ser1752Asn)
|
rs773363892
|
0.00001
|
NM_000540.3(RYR1):c.525C>T (p.Ser175=)
|
rs751478711
|
0.00001
|
NM_000540.3(RYR1):c.526G>A (p.Glu176Lys)
|
rs761616815
|
0.00001
|
NM_000540.3(RYR1):c.5273C>T (p.Pro1758Leu)
|
rs371317448
|
0.00001
|
NM_000540.3(RYR1):c.5275C>T (p.Arg1759Trp)
|
rs759566652
|
0.00001
|
NM_000540.3(RYR1):c.5276G>A (p.Arg1759Gln)
|
rs765080138
|
0.00001
|
NM_000540.3(RYR1):c.529C>T (p.Arg177Cys)
|
rs193922757
|
0.00001
|
NM_000540.3(RYR1):c.5314A>G (p.Arg1772Gly)
|
rs1568484835
|
0.00001
|
NM_000540.3(RYR1):c.5338C>G (p.Pro1780Ala)
|
rs1417223289
|
0.00001
|
NM_000540.3(RYR1):c.5341T>C (p.Cys1781Arg)
|
rs372958050
|
0.00001
|
NM_000540.3(RYR1):c.5353G>A (p.Ala1785Thr)
|
rs994430568
|
0.00001
|
NM_000540.3(RYR1):c.5370G>A (p.Gly1790=)
|
rs1222078088
|
0.00001
|
NM_000540.3(RYR1):c.5417C>T (p.Ala1806Val)
|
rs771024285
|
0.00001
|
NM_000540.3(RYR1):c.5476G>A (p.Ala1826Thr)
|
rs757710320
|
0.00001
|
NM_000540.3(RYR1):c.5488G>A (p.Val1830Ile)
|
rs147603571
|
0.00001
|
NM_000540.3(RYR1):c.5490C>T (p.Val1830=)
|
rs1243634588
|
0.00001
|
NM_000540.3(RYR1):c.5496C>T (p.Gly1832=)
|
rs772793146
|
0.00001
|
NM_000540.3(RYR1):c.5500G>A (p.Val1834Met)
|
rs1485656805
|
0.00001
|
NM_000540.3(RYR1):c.550G>A (p.Ala184Thr)
|
rs766256366
|
0.00001
|
NM_000540.3(RYR1):c.5533G>A (p.Val1845Met)
|
rs926669024
|
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.5596A>G (p.Ile1866Val)
|
rs1184784202
|
0.00001
|
NM_000540.3(RYR1):c.5606A>T (p.Glu1869Val)
|
rs754094372
|
0.00001
|
NM_000540.3(RYR1):c.5607G>C (p.Glu1869Asp)
|
rs1043076830
|
0.00001
|
NM_000540.3(RYR1):c.5673G>A (p.Glu1891=)
|
rs751039626
|
0.00001
|
NM_000540.3(RYR1):c.567G>C (p.Gln189His)
|
rs1249117526
|
0.00001
|
NM_000540.3(RYR1):c.5746G>C (p.Gly1916Arg)
|
rs746965897
|
0.00001
|
NM_000540.3(RYR1):c.5778G>C (p.Leu1926=)
|
rs754492782
|
0.00001
|
NM_000540.3(RYR1):c.577T>A (p.Ser193Thr)
|
rs886054379
|
0.00001
|
NM_000540.3(RYR1):c.5815-16G>A
|
rs1064796679
|
0.00001
|
NM_000540.3(RYR1):c.5853G>A (p.Leu1951=)
|
rs1258200418
|
0.00001
|
NM_000540.3(RYR1):c.5860C>T (p.Arg1954Cys)
|
rs1354061498
|
0.00001
|
NM_000540.3(RYR1):c.5885C>T (p.Ala1962Val)
|
rs751621150
|
0.00001
|
NM_000540.3(RYR1):c.5886G>A (p.Ala1962=)
|
rs757339404
|
0.00001
|
NM_000540.3(RYR1):c.5919G>A (p.Gln1973=)
|
rs1325551524
|
0.00001
|
NM_000540.3(RYR1):c.5926C>T (p.Arg1976Cys)
|
rs747644094
|
0.00001
|
NM_000540.3(RYR1):c.5940C>T (p.Leu1980=)
|
rs1252221951
|
0.00001
|
NM_000540.3(RYR1):c.5942T>G (p.Ile1981Arg)
|
rs1057524609
|
0.00001
|
NM_000540.3(RYR1):c.5980C>T (p.Arg1994Cys)
|
rs369167120
|
0.00001
|
NM_000540.3(RYR1):c.5986C>T (p.Arg1996Cys)
|
rs1029641002
|
0.00001
|
NM_000540.3(RYR1):c.5999C>T (p.Ser2000Phe)
|
rs750324313
|
0.00001
|
NM_000540.3(RYR1):c.6016-5C>G
|
rs369996114
|
0.00001
|
NM_000540.3(RYR1):c.6034T>C (p.Phe2012Leu)
|
rs1445407200
|
0.00001
|
NM_000540.3(RYR1):c.6045T>C (p.Gly2015=)
|
rs1389709111
|
0.00001
|
NM_000540.3(RYR1):c.6054G>A (p.Glu2018=)
|
rs934838050
|
0.00001
|
NM_000540.3(RYR1):c.6057A>C (p.Glu2019Asp)
|
rs1053361437
|
0.00001
|
NM_000540.3(RYR1):c.60C>T (p.Val20=)
|
rs766073662
|
0.00001
|
NM_000540.3(RYR1):c.6128-3C>T
|
rs775568216
|
0.00001
|
NM_000540.3(RYR1):c.6139G>C (p.Asp2047His)
|
rs763963516
|
0.00001
|
NM_000540.3(RYR1):c.6212G>A (p.Arg2071Gln)
|
rs139775280
|
0.00001
|
NM_000540.3(RYR1):c.624C>T (p.Cys208=)
|
rs746914281
|
0.00001
|
NM_000540.3(RYR1):c.6274+15C>T
|
rs1206765876
|
0.00001
|
NM_000540.3(RYR1):c.6276G>A (p.Arg2092=)
|
rs532699431
|
0.00001
|
NM_000540.3(RYR1):c.6280C>G (p.Leu2094Val)
|
rs1034775973
|
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.6310C>T (p.Arg2104Cys)
|
rs541757529
|
0.00001
|
NM_000540.3(RYR1):c.6311G>A (p.Arg2104His)
|
rs745319881
|
0.00001
|
NM_000540.3(RYR1):c.631G>A (p.Gly211Ser)
|
rs1281318820
|
0.00001
|
NM_000540.3(RYR1):c.6330C>T (p.Phe2110=)
|
rs990514054
|
0.00001
|
NM_000540.3(RYR1):c.6372G>T (p.Leu2124=)
|
rs749069469
|
0.00001
|
NM_000540.3(RYR1):c.6377G>A (p.Arg2126Gln)
|
rs1469128640
|
0.00001
|
NM_000540.3(RYR1):c.6388G>A (p.Gly2130Arg)
|
rs193922789
|
0.00001
|
NM_000540.3(RYR1):c.6407G>A (p.Arg2136His)
|
rs530885842
|
0.00001
|
NM_000540.3(RYR1):c.6416C>T (p.Pro2139Leu)
|
rs1040827017
|
0.00001
|
NM_000540.3(RYR1):c.6422C>T (p.Ala2141Val)
|
rs201293931
|
0.00001
|
NM_000540.3(RYR1):c.6438G>A (p.Pro2146=)
|
rs376809406
|
0.00001
|
NM_000540.3(RYR1):c.6445G>A (p.Val2149Met)
|
rs776830747
|
0.00001
|
NM_000540.3(RYR1):c.6458T>C (p.Met2153Thr)
|
rs759940587
|
0.00001
|
NM_000540.3(RYR1):c.6466C>T (p.Leu2156Phe)
|
rs1202572873
|
0.00001
|
NM_000540.3(RYR1):c.6477C>T (p.Leu2159=)
|
rs1159279103
|
0.00001
|
NM_000540.3(RYR1):c.6487C>T (p.Arg2163Cys)
|
rs118192175
|
0.00001
|
NM_000540.3(RYR1):c.6501C>T (p.Ile2167=)
|
rs1419561732
|
0.00001
|
NM_000540.3(RYR1):c.651C>T (p.His217=)
|
rs762632406
|
0.00001
|
NM_000540.3(RYR1):c.6528C>T (p.Asn2176=)
|
rs775643238
|
0.00001
|
NM_000540.3(RYR1):c.652G>A (p.Val218Ile)
|
rs193922759
|
0.00001
|
NM_000540.3(RYR1):c.6540G>A (p.Gln2180=)
|
rs146773090
|
0.00001
|
NM_000540.3(RYR1):c.6547G>A (p.Gly2183Arg)
|
rs774275648
|
0.00001
|
NM_000540.3(RYR1):c.6548+11G>A
|
rs766297114
|
0.00001
|
NM_000540.3(RYR1):c.6548+6A>G
|
rs200428808
|
0.00001
|
NM_000540.3(RYR1):c.6548+9C>T
|
rs562469984
|
0.00001
|
NM_000540.3(RYR1):c.6549-8G>A
|
rs756593088
|
0.00001
|
NM_000540.3(RYR1):c.6554T>C (p.Ile2185Thr)
|
rs1186616874
|
0.00001
|
NM_000540.3(RYR1):c.6564C>G (p.Asn2188Lys)
|
rs373570763
|
0.00001
|
NM_000540.3(RYR1):c.6575A>G (p.Tyr2192Cys)
|
rs748421460
|
0.00001
|
NM_000540.3(RYR1):c.6584C>T (p.Pro2195Leu)
|
rs772003357
|
0.00001
|
NM_000540.3(RYR1):c.658C>T (p.Arg220Cys)
|
rs1220780685
|
0.00001
|
NM_000540.3(RYR1):c.6606C>A (p.Gly2202=)
|
rs1282858078
|
0.00001
|
NM_000540.3(RYR1):c.6607A>G (p.Met2203Val)
|
rs200203904
|
0.00001
|
NM_000540.3(RYR1):c.6662A>G (p.Lys2221Arg)
|
rs1293529148
|
0.00001
|
NM_000540.3(RYR1):c.6663+7G>A
|
rs1600808245
|
0.00001
|
NM_000540.3(RYR1):c.6664-2A>G
|
rs1346257891
|
0.00001
|
NM_000540.3(RYR1):c.668A>G (p.His223Arg)
|
rs766836202
|
0.00001
|
NM_000540.3(RYR1):c.6700C>T (p.Arg2234Cys)
|
rs201465595
|
0.00001
|
NM_000540.3(RYR1):c.670G>A (p.Gly224Arg)
|
rs1273260301
|
0.00001
|
NM_000540.3(RYR1):c.6742C>T (p.Arg2248Cys)
|
rs763352221
|
0.00001
|
NM_000540.3(RYR1):c.6790G>A (p.Gly2264Ser)
|
rs1372408402
|
0.00001
|
NM_000540.3(RYR1):c.6792C>T (p.Gly2264=)
|
rs771740238
|
0.00001
|
NM_000540.3(RYR1):c.6797-1G>A
|
rs1221087983
|
0.00001
|
NM_000540.3(RYR1):c.6797-3C>A
|
rs766633897
|
0.00001
|
NM_000540.3(RYR1):c.6797-6C>A
|
rs1405203955
|
0.00001
|
NM_000540.3(RYR1):c.6797-7C>T
|
rs994688451
|
0.00001
|
NM_000540.3(RYR1):c.6823G>A (p.Val2275Met)
|
rs756847750
|
0.00001
|
NM_000540.3(RYR1):c.683A>G (p.Glu228Gly)
|
rs1260538999
|
0.00001
|
NM_000540.3(RYR1):c.6842T>C (p.Ile2281Thr)
|
rs1230617762
|
0.00001
|
NM_000540.3(RYR1):c.6864G>A (p.Leu2288=)
|
rs776839307
|
0.00001
|
NM_000540.3(RYR1):c.6888A>G (p.Glu2296=)
|
rs1369384358
|
0.00001
|
NM_000540.3(RYR1):c.6891+5G>A
|
rs980283007
|
0.00001
|
NM_000540.3(RYR1):c.6960C>T (p.Asp2320=)
|
rs1271691326
|
0.00001
|
NM_000540.3(RYR1):c.6962T>C (p.Ile2321Thr)
|
rs370500540
|
0.00001
|
NM_000540.3(RYR1):c.7007G>A (p.Arg2336His)
|
rs112563513
|
0.00001
|
NM_000540.3(RYR1):c.7021G>A (p.Val2341Ile)
|
rs767615522
|
0.00001
|
NM_000540.3(RYR1):c.7027G>A (p.Gly2343Ser)
|
rs536596969
|
0.00001
|
NM_000540.3(RYR1):c.7028-10G>A
|
rs1005260620
|
0.00001
|
NM_000540.3(RYR1):c.7028-15C>G
|
rs372914111
|
0.00001
|
NM_000540.3(RYR1):c.7028-17C>T
|
rs772127119
|
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.7039G>A (p.Glu2347Lys)
|
rs750951875
|
0.00001
|
NM_000540.3(RYR1):c.7043A>G (p.Glu2348Gly)
|
rs193922801
|
0.00001
|
NM_000540.3(RYR1):c.7045A>T (p.Asn2349Tyr)
|
rs780437705
|
0.00001
|
NM_000540.3(RYR1):c.7071C>T (p.Leu2357=)
|
rs1400420801
|
0.00001
|
NM_000540.3(RYR1):c.7072A>C (p.Ile2358Leu)
|
rs759306349
|
0.00001
|
NM_000540.3(RYR1):c.7074C>A (p.Ile2358=)
|
rs1323813559
|
0.00001
|
NM_000540.3(RYR1):c.7075C>T (p.Arg2359Trp)
|
rs769482889
|
0.00001
|
NM_000540.3(RYR1):c.7076G>A (p.Arg2359Gln)
|
rs1387126664
|
0.00001
|
NM_000540.3(RYR1):c.7121C>T (p.Ser2374Leu)
|
rs1131692006
|
0.00001
|
NM_000540.3(RYR1):c.7146G>A (p.Glu2382=)
|
rs1279071032
|
0.00001
|
NM_000540.3(RYR1):c.7158C>A (p.Ile2386=)
|
rs761292590
|
0.00001
|
NM_000540.3(RYR1):c.7172C>T (p.Ala2391Val)
|
rs373264653
|
0.00001
|
NM_000540.3(RYR1):c.7192C>T (p.Arg2398Cys)
|
rs751654689
|
0.00001
|
NM_000540.3(RYR1):c.7199A>G (p.Asp2400Gly)
|
rs976108591
|
0.00001
|
NM_000540.3(RYR1):c.7201C>G (p.Arg2401Gly)
|
rs1481790842
|
0.00001
|
NM_000540.3(RYR1):c.7202G>A (p.Arg2401Gln)
|
rs370007152
|
0.00001
|
NM_000540.3(RYR1):c.7215-3C>T
|
rs1190472871
|
0.00001
|
NM_000540.3(RYR1):c.725+15C>T
|
rs745792543
|
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.7293C>T (p.Asp2431=)
|
rs200482860
|
0.00001
|
NM_000540.3(RYR1):c.7324-19C>T
|
rs12981175
|
0.00001
|
NM_000540.3(RYR1):c.7335C>T (p.Ala2445=)
|
rs779477292
|
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.7363G>A (p.Ala2455Thr)
|
rs765019465
|
0.00001
|
NM_000540.3(RYR1):c.7368C>T (p.Ile2456=)
|
rs371851375
|
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.737A>G (p.Tyr246Cys)
|
rs923613797
|
0.00001
|
NM_000540.3(RYR1):c.7385C>T (p.Pro2462Leu)
|
rs551223467
|
0.00001
|
NM_000540.3(RYR1):c.7401G>A (p.Val2467=)
|
rs991981033
|
0.00001
|
NM_000540.3(RYR1):c.7410C>T (p.Ile2470=)
|
rs148275452
|
0.00001
|
NM_000540.3(RYR1):c.7416C>G (p.Leu2472=)
|
rs932151684
|
0.00001
|
NM_000540.3(RYR1):c.7422G>A (p.Leu2474=)
|
rs758872814
|
0.00001
|
NM_000540.3(RYR1):c.7444+8G>A
|
rs924904805
|
0.00001
|
NM_000540.3(RYR1):c.7446T>C (p.Asp2482=)
|
rs374058542
|
0.00001
|
NM_000540.3(RYR1):c.7483G>A (p.Val2495Met)
|
rs200291321
|
0.00001
|
NM_000540.3(RYR1):c.751G>A (p.Val251Met)
|
rs1216903554
|
0.00001
|
NM_000540.3(RYR1):c.7535T>C (p.Ile2512Thr)
|
rs1970086291
|
0.00001
|
NM_000540.3(RYR1):c.7599C>T (p.Ala2533=)
|
rs770552982
|
0.00001
|
NM_000540.3(RYR1):c.7604C>T (p.Ser2535Leu)
|
rs776163386
|
0.00001
|
NM_000540.3(RYR1):c.7608G>A (p.Leu2536=)
|
rs201686887
|
0.00001
|
NM_000540.3(RYR1):c.7615-10T>C
|
rs745489247
|
0.00001
|
NM_000540.3(RYR1):c.7615-17C>T
|
rs770656344
|
0.00001
|
NM_000540.3(RYR1):c.7615-4C>T
|
rs773613214
|
0.00001
|
NM_000540.3(RYR1):c.7628C>T (p.Thr2543Ile)
|
rs1471770301
|
0.00001
|
NM_000540.3(RYR1):c.7640C>T (p.Ala2547Val)
|
rs751482960
|
0.00001
|
NM_000540.3(RYR1):c.7656C>A (p.Arg2552=)
|
rs1332468548
|
0.00001
|
NM_000540.3(RYR1):c.7659C>T (p.Tyr2553=)
|
rs768079038
|
0.00001
|
NM_000540.3(RYR1):c.7660C>T (p.Leu2554=)
|
rs1227506632
|
0.00001
|
NM_000540.3(RYR1):c.7662G>C (p.Leu2554=)
|
rs1970176018
|
0.00001
|
NM_000540.3(RYR1):c.7673T>C (p.Val2558Ala)
|
rs777134421
|
0.00001
|
NM_000540.3(RYR1):c.7676T>A (p.Leu2559Gln)
|
rs139564550
|
0.00001
|
NM_000540.3(RYR1):c.7700C>T (p.Pro2567Leu)
|
rs768399513
|
0.00001
|
NM_000540.3(RYR1):c.7709C>T (p.Ala2570Val)
|
rs544312224
|
0.00001
|
NM_000540.3(RYR1):c.7724G>A (p.Arg2575His)
|
rs369450781
|
0.00001
|
NM_000540.3(RYR1):c.7728C>T (p.Ala2576=)
|
rs955340412
|
0.00001
|
NM_000540.3(RYR1):c.7738G>A (p.Asp2580Asn)
|
rs758009575
|
0.00001
|
NM_000540.3(RYR1):c.7752T>G (p.His2584Gln)
|
rs1324550196
|
0.00001
|
NM_000540.3(RYR1):c.7757T>A (p.Val2586Glu)
|
rs577314143
|
0.00001
|
NM_000540.3(RYR1):c.7764C>T (p.Arg2588=)
|
rs142441461
|
0.00001
|
NM_000540.3(RYR1):c.7776T>C (p.Gly2592=)
|
rs746577270
|
0.00001
|
NM_000540.3(RYR1):c.7785C>T (p.Leu2595=)
|
rs774617852
|
0.00001
|
NM_000540.3(RYR1):c.7787C>T (p.Thr2596Ile)
|
rs193922824
|
0.00001
|
NM_000540.3(RYR1):c.7791G>A (p.Lys2597=)
|
rs1432378321
|
0.00001
|
NM_000540.3(RYR1):c.7813G>A (p.Asp2605Asn)
|
rs754339645
|
0.00001
|
NM_000540.3(RYR1):c.7824G>A (p.Met2608Ile)
|
rs1568505698
|
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.7835+10G>A
|
rs749955429
|
0.00001
|
NM_000540.3(RYR1):c.7835+15G>A
|
rs1393535036
|
0.00001
|
NM_000540.3(RYR1):c.7836-13C>T
|
rs377583365
|
0.00001
|
NM_000540.3(RYR1):c.7836-40C>T
|
rs544169735
|
0.00001
|
NM_000540.3(RYR1):c.7836-9G>A
|
rs1410860089
|
0.00001
|
NM_000540.3(RYR1):c.7842C>T (p.Ile2614=)
|
rs777420696
|
0.00001
|
NM_000540.3(RYR1):c.7843C>T (p.Arg2615Cys)
|
rs1222041246
|
0.00001
|
NM_000540.3(RYR1):c.7850C>T (p.Ser2617Leu)
|
rs780836747
|
0.00001
|
NM_000540.3(RYR1):c.7851G>A (p.Ser2617=)
|
rs745334519
|
0.00001
|
NM_000540.3(RYR1):c.7857G>A (p.Leu2619=)
|
rs547048377
|
0.00001
|
NM_000540.3(RYR1):c.7858C>T (p.Gln2620Ter)
|
rs1365856881
|
0.00001
|
NM_000540.3(RYR1):c.7859A>C (p.Gln2620Pro)
|
rs1425983637
|
0.00001
|
NM_000540.3(RYR1):c.7861C>T (p.His2621Tyr)
|
rs761129675
|
0.00001
|
NM_000540.3(RYR1):c.7864C>T (p.Leu2622=)
|
rs370820784
|
0.00001
|
NM_000540.3(RYR1):c.7873C>T (p.Arg2625Cys)
|
rs377686237
|
0.00001
|
NM_000540.3(RYR1):c.7875C>T (p.Arg2625=)
|
rs780785655
|
0.00001
|
NM_000540.3(RYR1):c.7879G>C (p.Val2627Leu)
|
rs914804033
|
0.00001
|
NM_000540.3(RYR1):c.7892C>A (p.Pro2631His)
|
rs763892923
|
0.00001
|
NM_000540.3(RYR1):c.7896C>A (p.Ile2632=)
|
rs201090618
|
0.00001
|
NM_000540.3(RYR1):c.7926+10A>G
|
rs778605115
|
0.00001
|
NM_000540.3(RYR1):c.7926+3G>C
|
rs1159843881
|
0.00001
|
NM_000540.3(RYR1):c.7926+5G>A
|
rs1555784807
|
0.00001
|
NM_000540.3(RYR1):c.7938C>T (p.Asn2646=)
|
rs752737752
|
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.8027G>A (p.Arg2676Gln)
|
rs780455924
|
0.00001
|
NM_000540.3(RYR1):c.8071T>A (p.Tyr2691Asn)
|
rs1221624769
|
0.00001
|
NM_000540.3(RYR1):c.8078C>T (p.Pro2693Leu)
|
rs568662364
|
0.00001
|
NM_000540.3(RYR1):c.8082G>A (p.Glu2694=)
|
rs745619519
|
0.00001
|
NM_000540.3(RYR1):c.8085G>C (p.Leu2695=)
|
rs139673296
|
0.00001
|
NM_000540.3(RYR1):c.8090G>A (p.Arg2697His)
|
rs1254090942
|
0.00001
|
NM_000540.3(RYR1):c.8092A>G (p.Met2698Val)
|
rs775479195
|
0.00001
|
NM_000540.3(RYR1):c.8121C>T (p.Ala2707=)
|
rs569143131
|
0.00001
|
NM_000540.3(RYR1):c.8133C>T (p.Pro2711=)
|
rs1293704566
|
0.00001
|
NM_000540.3(RYR1):c.8136C>T (p.Pro2712=)
|
rs879058545
|
0.00001
|
NM_000540.3(RYR1):c.8181C>T (p.Ala2727=)
|
rs1047085632
|
0.00001
|
NM_000540.3(RYR1):c.8211C>G (p.Pro2737=)
|
rs1970370412
|
0.00001
|
NM_000540.3(RYR1):c.8213G>A (p.Arg2738Gln)
|
rs766961940
|
0.00001
|
NM_000540.3(RYR1):c.8232-5A>G
|
rs1358554710
|
0.00001
|
NM_000540.3(RYR1):c.8254G>T (p.Asp2752Tyr)
|
rs768299986
|
0.00001
|
NM_000540.3(RYR1):c.8263A>G (p.Ile2755Val)
|
rs1382963611
|
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.82C>T (p.Leu28Phe)
|
rs1242495143
|
0.00001
|
NM_000540.3(RYR1):c.8300C>T (p.Ala2767Val)
|
rs368444112
|
0.00001
|
NM_000540.3(RYR1):c.8310+1G>T
|
rs1970380121
|
0.00001
|
NM_000540.3(RYR1):c.837C>G (p.Leu279=)
|
rs1381396297
|
0.00001
|
NM_000540.3(RYR1):c.838C>T (p.Arg280Ter)
|
rs1278804520
|
0.00001
|
NM_000540.3(RYR1):c.839G>A (p.Arg280Gln)
|
rs1319877486
|
0.00001
|
NM_000540.3(RYR1):c.847C>T (p.His283Tyr)
|
rs753985252
|
0.00001
|
NM_000540.3(RYR1):c.849T>C (p.His283=)
|
rs754897642
|
0.00001
|
NM_000540.3(RYR1):c.85A>G (p.Lys29Glu)
|
rs1240489600
|
0.00001
|
NM_000540.3(RYR1):c.8617-5C>T
|
rs201663014
|
0.00001
|
NM_000540.3(RYR1):c.8625A>G (p.Ala2875=)
|
rs1412201176
|
0.00001
|
NM_000540.3(RYR1):c.8638G>A (p.Glu2880Lys)
|
rs112772310
|
0.00001
|
NM_000540.3(RYR1):c.8692+10C>T
|
rs1197451799
|
0.00001
|
NM_000540.3(RYR1):c.8692+15G>A
|
rs1219182533
|
0.00001
|
NM_000540.3(RYR1):c.8692+95C>T
|
rs955978443
|
0.00001
|
NM_000540.3(RYR1):c.8699G>C (p.Gly2900Ala)
|
rs750366916
|
0.00001
|
NM_000540.3(RYR1):c.8703C>G (p.Thr2901=)
|
rs148311475
|
0.00001
|
NM_000540.3(RYR1):c.8724C>T (p.Tyr2908=)
|
rs797045935
|
0.00001
|
NM_000540.3(RYR1):c.8753G>A (p.Arg2918Gln)
|
rs1275833910
|
0.00001
|
NM_000540.3(RYR1):c.8802C>T (p.Gly2934=)
|
rs1568514231
|
0.00001
|
NM_000540.3(RYR1):c.880G>A (p.Glu294Lys)
|
rs779597449
|
0.00001
|
NM_000540.3(RYR1):c.8838G>A (p.Leu2946=)
|
rs1388031583
|
0.00001
|
NM_000540.3(RYR1):c.8841C>T (p.Asp2947=)
|
rs200982346
|
0.00001
|
NM_000540.3(RYR1):c.8843del (p.Ser2948fs)
|
rs765921831
|
0.00001
|
NM_000540.3(RYR1):c.8861G>T (p.Arg2954Leu)
|
rs1970541664
|
0.00001
|
NM_000540.3(RYR1):c.8888T>C (p.Leu2963Pro)
|
rs756870293
|
0.00001
|
NM_000540.3(RYR1):c.8933-4A>G
|
rs201613324
|
0.00001
|
NM_000540.3(RYR1):c.8991C>A (p.Phe2997Leu)
|
rs1377413977
|
0.00001
|
NM_000540.3(RYR1):c.8996C>G (p.Ala2999Gly)
|
rs374272827
|
0.00001
|
NM_000540.3(RYR1):c.9001-12A>G
|
rs1303749035
|
0.00001
|
NM_000540.3(RYR1):c.9001-8G>A
|
rs768611849
|
0.00001
|
NM_000540.3(RYR1):c.9009C>T (p.Leu3003=)
|
rs748143185
|
0.00001
|
NM_000540.3(RYR1):c.9062C>T (p.Pro3021Leu)
|
rs770765832
|
0.00001
|
NM_000540.3(RYR1):c.9070G>A (p.Val3024Met)
|
rs759007399
|
0.00001
|
NM_000540.3(RYR1):c.9096T>A (p.Ser3032=)
|
rs144067910
|
0.00001
|
NM_000540.3(RYR1):c.9101A>C (p.Lys3034Thr)
|
rs754966992
|
0.00001
|
NM_000540.3(RYR1):c.9112A>G (p.Met3038Val)
|
rs1302799425
|
0.00001
|
NM_000540.3(RYR1):c.9122+7C>T
|
rs199667629
|
0.00001
|
NM_000540.3(RYR1):c.9123-10C>G
|
rs781145951
|
0.00001
|
NM_000540.3(RYR1):c.9123-4T>G
|
rs1346638416
|
0.00001
|
NM_000540.3(RYR1):c.9123-6C>G
|
rs745445082
|
0.00001
|
NM_000540.3(RYR1):c.9149T>A (p.Val3050Asp)
|
rs1157851269
|
0.00001
|
NM_000540.3(RYR1):c.9157C>T (p.Arg3053Ter)
|
rs1374378105
|
0.00001
|
NM_000540.3(RYR1):c.9222C>T (p.Ser3074=)
|
rs755895206
|
0.00001
|
NM_000540.3(RYR1):c.9223C>G (p.Leu3075Val)
|
rs892645913
|
0.00001
|
NM_000540.3(RYR1):c.9234-13G>A
|
rs141299670
|
0.00001
|
NM_000540.3(RYR1):c.9278G>A (p.Arg3093His)
|
rs1414706865
|
0.00001
|
NM_000540.3(RYR1):c.9282C>T (p.Ser3094=)
|
rs777160622
|
0.00001
|
NM_000540.3(RYR1):c.9288C>T (p.Phe3096=)
|
rs374011553
|
0.00001
|
NM_000540.3(RYR1):c.929C>T (p.Ala310Val)
|
rs966781989
|
0.00001
|
NM_000540.3(RYR1):c.9300G>A (p.Ser3100=)
|
rs762145186
|
0.00001
|
NM_000540.3(RYR1):c.9305A>G (p.Asp3102Gly)
|
rs1970766556
|
0.00001
|
NM_000540.3(RYR1):c.9330G>A (p.Leu3110=)
|
rs1393317681
|
0.00001
|
NM_000540.3(RYR1):c.9333G>T (p.Arg3111=)
|
rs765039553
|
0.00001
|
NM_000540.3(RYR1):c.9341A>G (p.Lys3114Arg)
|
rs752290068
|
0.00001
|
NM_000540.3(RYR1):c.9346T>A (p.Ser3116Thr)
|
rs1336789605
|
0.00001
|
NM_000540.3(RYR1):c.9360C>T (p.Thr3120=)
|
rs748400885
|
0.00001
|
NM_000540.3(RYR1):c.9413C>T (p.Pro3138Leu)
|
rs762652935
|
0.00001
|
NM_000540.3(RYR1):c.9441C>T (p.Ile3147=)
|
rs376129203
|
0.00001
|
NM_000540.3(RYR1):c.9465C>T (p.Asp3155=)
|
rs777818383
|
0.00001
|
NM_000540.3(RYR1):c.946C>T (p.Arg316Cys)
|
rs752652072
|
0.00001
|
NM_000540.3(RYR1):c.9472+1G>A
|
rs776697656
|
0.00001
|
NM_000540.3(RYR1):c.9472+8C>T
|
rs769779105
|
0.00001
|
NM_000540.3(RYR1):c.9472+9G>A
|
rs1392237616
|
0.00001
|
NM_000540.3(RYR1):c.9473T>G (p.Leu3158Arg)
|
rs774197359
|
0.00001
|
NM_000540.3(RYR1):c.9511A>C (p.Ser3171Arg)
|
rs370851939
|
0.00001
|
NM_000540.3(RYR1):c.951C>T (p.Ile317=)
|
rs138968996
|
0.00001
|
NM_000540.3(RYR1):c.9522C>T (p.Ser3174=)
|
rs1232228230
|
0.00001
|
NM_000540.3(RYR1):c.9523C>G (p.Leu3175Val)
|
rs528199298
|
0.00001
|
NM_000540.3(RYR1):c.9554+13A>T
|
rs1265960627
|
0.00001
|
NM_000540.3(RYR1):c.9559C>T (p.Arg3187Trp)
|
rs1376794459
|
0.00001
|
NM_000540.3(RYR1):c.9560G>A (p.Arg3187Gln)
|
rs1171145743
|
0.00001
|
NM_000540.3(RYR1):c.957+19G>A
|
rs1057523425
|
0.00001
|
NM_000540.3(RYR1):c.9570C>T (p.Leu3190=)
|
rs1164536545
|
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.9615C>G (p.Phe3205Leu)
|
rs1223136232
|
0.00001
|
NM_000540.3(RYR1):c.9623C>T (p.Pro3208Leu)
|
rs758210285
|
0.00001
|
NM_000540.3(RYR1):c.9638A>G (p.Tyr3213Cys)
|
rs886054398
|
0.00001
|
NM_000540.3(RYR1):c.9650C>T (p.Ser3217Phe)
|
rs1283174775
|
0.00001
|
NM_000540.3(RYR1):c.9652G>A (p.Val3218Met)
|
rs553055844
|
0.00001
|
NM_000540.3(RYR1):c.966G>A (p.Leu322=)
|
rs764146470
|
0.00001
|
NM_000540.3(RYR1):c.9672G>T (p.Pro3224=)
|
rs199644190
|
0.00001
|
NM_000540.3(RYR1):c.9680G>A (p.Arg3227Gln)
|
rs878984852
|
0.00001
|
NM_000540.3(RYR1):c.9685+15G>C
|
rs1970964927
|
0.00001
|
NM_000540.3(RYR1):c.9685+8G>T
|
rs752615788
|
0.00001
|
NM_000540.3(RYR1):c.9685A>G (p.Ile3229Val)
|
rs1449733977
|
0.00001
|
NM_000540.3(RYR1):c.9703A>C (p.Ser3235Arg)
|
rs747488155
|
0.00001
|
NM_000540.3(RYR1):c.9706G>A (p.Val3236Met)
|
rs771264217
|
0.00001
|
NM_000540.3(RYR1):c.9716T>A (p.Met3239Lys)
|
rs371027185
|
0.00001
|
NM_000540.3(RYR1):c.9732G>A (p.Pro3244=)
|
rs764290955
|
0.00001
|
NM_000540.3(RYR1):c.9733G>A (p.Val3245Met)
|
rs751455783
|
0.00001
|
NM_000540.3(RYR1):c.9742C>T (p.Arg3248Trp)
|
rs761656403
|
0.00001
|
NM_000540.3(RYR1):c.9743G>A (p.Arg3248Gln)
|
rs553187437
|
0.00001
|
NM_000540.3(RYR1):c.975C>T (p.Ala325=)
|
rs751251863
|
0.00001
|
NM_000540.3(RYR1):c.9795G>C (p.Glu3265Asp)
|
rs1216462019
|
0.00001
|
NM_000540.3(RYR1):c.9810C>T (p.Ile3270=)
|
rs767400168
|
0.00001
|
NM_000540.3(RYR1):c.9819G>A (p.Thr3273=)
|
rs766177670
|
0.00001
|
NM_000540.3(RYR1):c.9826A>G (p.Met3276Val)
|
rs1568528315
|
0.00001
|
NM_000540.3(RYR1):c.983G>A (p.Arg328Gln)
|
rs755875230
|
0.00001
|
NM_000540.3(RYR1):c.9848G>A (p.Arg3283Gln)
|
rs757753317
|
0.00001
|
NM_000540.3(RYR1):c.9861C>T (p.Arg3287=)
|
rs375156852
|
0.00001
|
NM_000540.3(RYR1):c.9867C>T (p.Pro3289=)
|
rs774464442
|
0.00001
|
NM_000540.3(RYR1):c.9883G>A (p.Ala3295Thr)
|
rs550627995
|
0.00001
|
NM_000540.3(RYR1):c.9894C>T (p.Ala3298=)
|
rs763672253
|
0.00001
|
NM_000540.3(RYR1):c.9898G>A (p.Ala3300Thr)
|
rs1568528516
|
0.00001
|
NM_000540.3(RYR1):c.9900C>G (p.Ala3300=)
|
rs755194762
|
0.00001
|
NM_000540.3(RYR1):c.9903C>T (p.Pro3301=)
|
rs748417306
|
0.00001
|
NM_000540.3(RYR1):c.9921C>T (p.Val3307=)
|
rs1399221695
|
0.00001
|
NM_000540.3(RYR1):c.9930C>T (p.Asp3310=)
|
rs1315921296
|
0.00001
|
NM_000540.3(RYR1):c.9963A>C (p.Arg3321Ser)
|
rs1038063554
|
0.00001
|
NM_000540.3(RYR1):c.9989A>G (p.Asp3330Gly)
|
rs529012478
|
0.00001
|
NM_000540.3(RYR1):c.9990C>T (p.Asp3330=)
|
rs767032813
|
0.00001
|
GRCh37/hg19 19q13.2(chr19:38956079-39052049)x1
|
|
|
GRCh37/hg19 19q13.2(chr19:38987608-38993136)
|
|
|
NC_000019.10:g.(?_38433820)_(38475460_?)dup
|
|
|
NC_000019.10:g.(?_38502497)_(38502980_?)del
|
|
|
NC_000019.10:g.(?_38502501)_(38502976_?)del
|
|
|
NC_000019.10:g.(?_38546435)_(38546536_?)del
|
|
|
NC_000019.10:g.(?_38585928)_(38586012_?)dup
|
|
|
NC_000019.10:g.38455669G>A
|
|
|
NC_000019.10:g.38473377del
|
|
|
NC_000019.9:g.(?_38924450)_(38935337_?)dup
|
|
|
NC_000019.9:g.(?_38924470)_(38935337_?)dup
|
|
|
NC_000019.9:g.(?_38938975)_(38993630_?)del
|
|
|
NC_000019.9:g.(?_38954043)_(38954510_?)del
|
|
|
NC_000019.9:g.(?_38993127)_(38993630_?)del
|
|
|
NC_000019.9:g.(?_39002191)_(39003133_?)del
|
|
|
NC_000019.9:g.(?_39013648)_(39028620_?)dup
|
|
|
NC_000019.9:g.(?_39033967)_(39037186_?)del
|
|
|
NC_000019.9:g.(?_39033967)_(39039080_?)del
|
|
|
NC_000019.9:g.(?_39038853)_(39039080_?)dup
|
|
|
NC_000019.9:g.(?_39038863)_(39039070_?)dup
|
|
|
NC_000019.9:g.(?_39055579)_(39063967_?)del
|
|
|
NC_000019.9:g.(?_39066549)_(39078060_?)del
|
|
|
NC_000019.9:g.(?_39070602)_(39071164_?)dup
|
|
|
NC_000019.9:g.(?_39074134)_(39077236_?)del
|
|
|
NC_000019.9:g.(?_39075563)_(39078060_?)del
|
|
|
NM_000540.2(RYR1):c.1439_1440+1del
|
|
|
NM_000540.2(RYR1):c.14970delG
|
rs1568613962
|
|
NM_000540.2(RYR1):c.7835+19_7835+20ins17
|
|
|
NM_000540.2(RYR1):c.958_960delGAG
|
rs1064794313
|
|
NM_000540.2(RYR1):c.[10348-6C>G;14524G>A]
|
|
|
NM_000540.2(RYR1):c.[14344G>A;14928C>G]
|
|
|
NM_000540.2(RYR1):c.[14524G>A];[2029C>T]
|
|
|
NM_000540.2(RYR1):c.[14645C>T];[6721C>T]
|
|
|
NM_000540.2(RYR1):c.[5726_5727delAG;9242T>C]
|
|
|
NM_000540.3(RYR1):c.-37C>G
|
rs886038309
|
|
NM_000540.3(RYR1):c.-568T>C
|
|
|
NM_000540.3(RYR1):c.-61A>C
|
rs1192726936
|
|
NM_000540.3(RYR1):c.-65G>C
|
rs1204515719
|
|
NM_000540.3(RYR1):c.-69T>C
|
rs886054377
|
|
NM_000540.3(RYR1):c.-70dup
|
rs886054376
|
|
NM_000540.3(RYR1):c.-74A>C
|
rs886054375
|
|
NM_000540.3(RYR1):c.-78_-55del
|
rs573058662
|
|
NM_000540.3(RYR1):c.-81dup
|
rs886054374
|
|
NM_000540.3(RYR1):c.10009C>G (p.Arg3337Gly)
|
rs200296387
|
|
NM_000540.3(RYR1):c.10009C>T (p.Arg3337Trp)
|
|
|
NM_000540.3(RYR1):c.10018+13G>T
|
|
|
NM_000540.3(RYR1):c.10018+13dup
|
|
|
NM_000540.3(RYR1):c.10018+15A>G
|
|
|
NM_000540.3(RYR1):c.10018+167G>A
|
rs892052
|
|
NM_000540.3(RYR1):c.10018+16C>A
|
|
|
NM_000540.3(RYR1):c.10018+16C>G
|
|
|
NM_000540.3(RYR1):c.10018+5G>T
|
rs2145683142
|
|
NM_000540.3(RYR1):c.10018G>A (p.Val3340Met)
|
rs1600892115
|
|
NM_000540.3(RYR1):c.10019-20_10019-12del
|
|
|
NM_000540.3(RYR1):c.10019-272dup
|
rs549791781
|
|
NM_000540.3(RYR1):c.10019-3C>T
|
|
|
NM_000540.3(RYR1):c.10019-4G>A
|
|
|
NM_000540.3(RYR1):c.10019-6C>G
|
|
|
NM_000540.3(RYR1):c.10019-6C>T
|
|
|
NM_000540.3(RYR1):c.10019-7C>A
|
|
|
NM_000540.3(RYR1):c.10019-7C>T
|
|
|
NM_000540.3(RYR1):c.1001G>A (p.Gly334Asp)
|
|
|
NM_000540.3(RYR1):c.1001G>T (p.Gly334Val)
|
rs587784371
|
|
NM_000540.3(RYR1):c.10023C>G (p.Phe3341Leu)
|
rs753154402
|
|
NM_000540.3(RYR1):c.10026A>G (p.Ala3342=)
|
rs1600897730
|
|
NM_000540.3(RYR1):c.10029G>A (p.Gln3343=)
|
|
|
NM_000540.3(RYR1):c.1002C>T (p.Gly334=)
|
rs2145361684
|
|
NM_000540.3(RYR1):c.10030C>T (p.Pro3344Ser)
|
rs2145688445
|
|
NM_000540.3(RYR1):c.10038G>A (p.Val3346=)
|
|
|
NM_000540.3(RYR1):c.10046C>G (p.Ala3349Gly)
|
rs199531105
|
|
NM_000540.3(RYR1):c.10048C>G (p.Arg3350Gly)
|
|
|
NM_000540.3(RYR1):c.10054G>A (p.Glu3352Lys)
|
rs2145688597
|
|
NM_000540.3(RYR1):c.10060C>T (p.Leu3354=)
|
|
|
NM_000540.3(RYR1):c.10063C>T (p.Gln3355Ter)
|
rs2145688683
|
|
NM_000540.3(RYR1):c.10068C>G (p.Ser3356=)
|
rs1241050088
|
|
NM_000540.3(RYR1):c.1006C>T (p.Pro336Ser)
|
|
|
NM_000540.3(RYR1):c.1007del (p.Pro336fs)
|
|
|
NM_000540.3(RYR1):c.1007dup (p.Pro336_Glu337insTer)
|
|
|
NM_000540.3(RYR1):c.10086C>T (p.Ile3362=)
|
rs193922835
|
|
NM_000540.3(RYR1):c.10087G>A (p.Gly3363Arg)
|
|
|
NM_000540.3(RYR1):c.1008T>G (p.Pro336=)
|
rs1600656795
|
|
NM_000540.3(RYR1):c.1008del (p.Glu337fs)
|
|
|
NM_000540.3(RYR1):c.10096C>A (p.Arg3366Ser)
|
rs561638083
|
|
NM_000540.3(RYR1):c.10096del (p.Arg3366fs)
|
|
|
NM_000540.3(RYR1):c.10097G>T (p.Arg3366Leu)
|
rs137932199
|
|
NM_000540.3(RYR1):c.100C>G (p.Leu34Val)
|
rs1481959610
|
|
NM_000540.3(RYR1):c.10100A>G (p.Lys3367Arg)
|
rs118192126
|
|
NM_000540.3(RYR1):c.10101G>C (p.Lys3367Asn)
|
rs1600898118
|
|
NM_000540.3(RYR1):c.10110G>T (p.Gly3370=)
|
rs2145688897
|
|
NM_000540.3(RYR1):c.10118T>G (p.Val3373Gly)
|
|
|
NM_000540.3(RYR1):c.10122C>T (p.Ser3374=)
|
|
|
NM_000540.3(RYR1):c.10125G>A (p.Glu3375=)
|
rs2145688981
|
|
NM_000540.3(RYR1):c.10137G>A (p.Leu3379=)
|
rs749203455
|
|
NM_000540.3(RYR1):c.10149C>G (p.Ala3383=)
|
rs771900355
|
|
NM_000540.3(RYR1):c.10153G>T (p.Ala3385Ser)
|
rs966978611
|
|
NM_000540.3(RYR1):c.10159G>T (p.Ala3387Ser)
|
|
|
NM_000540.3(RYR1):c.10161C>G (p.Ala3387=)
|
rs376909404
|
|
NM_000540.3(RYR1):c.10162del (p.Gln3388fs)
|
rs1568530776
|
|
NM_000540.3(RYR1):c.10170C>G (p.Gly3390=)
|
|
|
NM_000540.3(RYR1):c.10171G>T (p.Glu3391Ter)
|
|
|
NM_000540.3(RYR1):c.10176G>A (p.Leu3392=)
|
rs1318647248
|
|
NM_000540.3(RYR1):c.10177C>T (p.Leu3393=)
|
|
|
NM_000540.3(RYR1):c.10180G>T (p.Val3394Leu)
|
rs1600898457
|
|
NM_000540.3(RYR1):c.10182G>A (p.Val3394=)
|
|
|
NM_000540.3(RYR1):c.10184G>A (p.Arg3395Gln)
|
rs543161252
|
|
NM_000540.3(RYR1):c.10184G>C (p.Arg3395Pro)
|
|
|
NM_000540.3(RYR1):c.10185G>T (p.Arg3395=)
|
|
|
NM_000540.3(RYR1):c.10188C>T (p.Asp3396=)
|
rs2229145
|
|
NM_000540.3(RYR1):c.10189G>C (p.Glu3397Gln)
|
|
|
NM_000540.3(RYR1):c.10196C>T (p.Ser3399Phe)
|
rs1085307803
|
|
NM_000540.3(RYR1):c.10203C>A (p.Leu3401=)
|
rs2145689365
|
|
NM_000540.3(RYR1):c.10207C>T (p.Arg3403Trp)
|
|
|
NM_000540.3(RYR1):c.10209G>A (p.Arg3403=)
|
|
|
NM_000540.3(RYR1):c.10209G>T (p.Arg3403=)
|
|
|
NM_000540.3(RYR1):c.10213C>T (p.Leu3405Phe)
|
rs2145689439
|
|
NM_000540.3(RYR1):c.10214T>A (p.Leu3405His)
|
|
|
NM_000540.3(RYR1):c.1021G>A (p.Gly341Arg)
|
rs121918592
|
|
NM_000540.3(RYR1):c.1021G>C (p.Gly341Arg)
|
rs121918592
|
|
NM_000540.3(RYR1):c.10229C>A (p.Pro3410Gln)
|
rs769196275
|
|
NM_000540.3(RYR1):c.10229C>G (p.Pro3410Arg)
|
|
|
NM_000540.3(RYR1):c.10230G>T (p.Pro3410=)
|
|
|
NM_000540.3(RYR1):c.10233G>A (p.Leu3411=)
|
rs2145689546
|
|
NM_000540.3(RYR1):c.10236C>T (p.Leu3412=)
|
|
|
NM_000540.3(RYR1):c.10237A>T (p.Ile3413Phe)
|
rs2145689573
|
|
NM_000540.3(RYR1):c.10241G>A (p.Arg3414His)
|
|
|
NM_000540.3(RYR1):c.10245C>T (p.Tyr3415=)
|
rs1447214717
|
|
NM_000540.3(RYR1):c.10246G>A (p.Val3416Met)
|
rs760809784
|
|
NM_000540.3(RYR1):c.1024G>A (p.Glu342Lys)
|
rs2145361853
|
|
NM_000540.3(RYR1):c.10250A>G (p.Asp3417Gly)
|
|
|
NM_000540.3(RYR1):c.10251C>A (p.Asp3417Glu)
|
|
|
NM_000540.3(RYR1):c.10252A>G (p.Asn3418Asp)
|
rs2145689666
|
|
NM_000540.3(RYR1):c.10254C>T (p.Asn3418=)
|
rs886038310
|
|
NM_000540.3(RYR1):c.10256A>G (p.Asn3419Ser)
|
rs1163728546
|
|
NM_000540.3(RYR1):c.10259+10G>A
|
rs187018043
|
|
NM_000540.3(RYR1):c.10259+10G>C
|
rs187018043
|
|
NM_000540.3(RYR1):c.10259+10dup
|
|
|
NM_000540.3(RYR1):c.10259+14C>A
|
|
|
NM_000540.3(RYR1):c.10259+14C>G
|
rs758214097
|
|
NM_000540.3(RYR1):c.10259+14C>T
|
rs758214097
|
|
NM_000540.3(RYR1):c.10259+15G>A
|
|
|
NM_000540.3(RYR1):c.10259+16C>T
|
|
|
NM_000540.3(RYR1):c.10259+19T>C
|
|
|
NM_000540.3(RYR1):c.10259+1G>A
|
|
|
NM_000540.3(RYR1):c.10259+217T>G
|
rs2960327
|
|
NM_000540.3(RYR1):c.10259+225dup
|
rs372590409
|
|
NM_000540.3(RYR1):c.10259+9_10259+15del
|
|
|
NM_000540.3(RYR1):c.10260-10C>G
|
|
|
NM_000540.3(RYR1):c.10260-10C>T
|
|
|
NM_000540.3(RYR1):c.10260-11G>A
|
|
|
NM_000540.3(RYR1):c.10260-164_10260-161del
|
rs145400994
|
|
NM_000540.3(RYR1):c.10260-20C>T
|
|
|
NM_000540.3(RYR1):c.10260-6C>T
|
|
|
NM_000540.3(RYR1):c.10260-9T>G
|
rs1971290367
|
|
NM_000540.3(RYR1):c.10263G>A (p.Ala3421=)
|
rs778171066
|
|
NM_000540.3(RYR1):c.10263G>C (p.Ala3421=)
|
rs778171066
|
|
NM_000540.3(RYR1):c.10271T>G (p.Leu3424Arg)
|
rs1568534667
|
|
NM_000540.3(RYR1):c.10271_10279del (p.Leu3424_Glu3426del)
|
rs775358319
|
|
NM_000540.3(RYR1):c.10278G>T (p.Glu3426Asp)
|
|
|
NM_000540.3(RYR1):c.10278_10282dup (p.Asn3428fs)
|
rs2145702358
|
|
NM_000540.3(RYR1):c.10279C>G (p.Pro3427Ala)
|
rs1971292205
|
|
NM_000540.3(RYR1):c.10283_10290dup (p.Ala3431fs)
|
|
|
NM_000540.3(RYR1):c.10286C>G (p.Pro3429Arg)
|
|
|
NM_000540.3(RYR1):c.10291G>C (p.Ala3431Pro)
|
rs553113819
|
|
NM_000540.3(RYR1):c.10293G>T (p.Ala3431=)
|
|
|
NM_000540.3(RYR1):c.10296G>A (p.Glu3432=)
|
|
|
NM_000540.3(RYR1):c.10306A>G (p.Arg3436Gly)
|
|
|
NM_000540.3(RYR1):c.10312G>A (p.Val3438Met)
|
|
|
NM_000540.3(RYR1):c.10313T>C (p.Val3438Ala)
|
rs2145702520
|
|
NM_000540.3(RYR1):c.10317C>T (p.Gly3439=)
|
|
|
NM_000540.3(RYR1):c.10322T>A (p.Ile3441Asn)
|
rs1971294994
|
|
NM_000540.3(RYR1):c.1032G>A (p.Leu344=)
|
|
|
NM_000540.3(RYR1):c.10330T>G (p.Tyr3444Asp)
|
|
|
NM_000540.3(RYR1):c.10332C>T (p.Tyr3444=)
|
rs2145702572
|
|
NM_000540.3(RYR1):c.10334G>A (p.Trp3445Ter)
|
|
|
NM_000540.3(RYR1):c.10343C>T (p.Ser3448Phe)
|
rs193922836
|
|
NM_000540.3(RYR1):c.10344C>A (p.Ser3448=)
|
|
|
NM_000540.3(RYR1):c.10347+11A>C
|
|
|
NM_000540.3(RYR1):c.10347+14C>T
|
|
|
NM_000540.3(RYR1):c.10347+16_10347+22del
|
|
|
NM_000540.3(RYR1):c.10347+17A>G
|
|
|
NM_000540.3(RYR1):c.10347+19C>T
|
|
|
NM_000540.3(RYR1):c.10347+1G>A
|
rs111436401
|
|
NM_000540.3(RYR1):c.10347+7G>A
|
rs2145702654
|
|
NM_000540.3(RYR1):c.10348-3C>T
|
rs1971302236
|
|
NM_000540.3(RYR1):c.10348-6dup
|
|
|
NM_000540.3(RYR1):c.10348-7C>T
|
rs749534989
|
|
NM_000540.3(RYR1):c.10348-9C>T
|
|
|
NM_000540.3(RYR1):c.10350C>T (p.Asn3450=)
|
rs886038311
|
|
NM_000540.3(RYR1):c.10354A>C (p.Lys3452Gln)
|
|
|
NM_000540.3(RYR1):c.10356G>A (p.Lys3452=)
|
|
|
NM_000540.3(RYR1):c.10357C>T (p.Arg3453Cys)
|
|
|
NM_000540.3(RYR1):c.1035C>G (p.Cys345Trp)
|
rs1170304013
|
|
NM_000540.3(RYR1):c.10381C>T (p.Gln3461Ter)
|
|
|
NM_000540.3(RYR1):c.10404C>G (p.Ser3468=)
|
|
|
NM_000540.3(RYR1):c.10404C>T (p.Ser3468=)
|
|
|
NM_000540.3(RYR1):c.1041G>A (p.Val347=)
|
rs1966923048
|
|
NM_000540.3(RYR1):c.10436C>T (p.Ala3479Val)
|
|
|
NM_000540.3(RYR1):c.10438A>G (p.Lys3480Glu)
|
rs1971306070
|
|
NM_000540.3(RYR1):c.10440+11G>A
|
|
|
NM_000540.3(RYR1):c.10440+2_10440+22del
|
rs1971306200
|
|
NM_000540.3(RYR1):c.10440+7G>T
|
|
|
NM_000540.3(RYR1):c.10440+9T>A
|
|
|
NM_000540.3(RYR1):c.10440+9T>C
|
|
|
NM_000540.3(RYR1):c.10441-11C>T
|
|
|
NM_000540.3(RYR1):c.10441-15G>C
|
|
|
NM_000540.3(RYR1):c.10441-16C>T
|
|
|
NM_000540.3(RYR1):c.10441-48G>A
|
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|
NM_000540.3(RYR1):c.10441-5A>G
|
|
|
NM_000540.3(RYR1):c.10441-90G>A
|
rs58776402
|
|
NM_000540.3(RYR1):c.10450dup (p.Ile3484fs)
|
|
|
NM_000540.3(RYR1):c.10453C>T (p.Gln3485Ter)
|
rs199895006
|
|
NM_000540.3(RYR1):c.10455+11C>T
|
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|
NM_000540.3(RYR1):c.10455+14C>A
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NM_000540.3(RYR1):c.10455+14C>G
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|
NM_000540.3(RYR1):c.10455+17_10455+18dup
|
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|
NM_000540.3(RYR1):c.10455+19A>T
|
|
|
NM_000540.3(RYR1):c.10455+274dup
|
rs56388141
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NM_000540.3(RYR1):c.10455+6C>T
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|
|
NM_000540.3(RYR1):c.10455+73C>T
|
rs73544616
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NM_000540.3(RYR1):c.10455+7C>T
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|
|
NM_000540.3(RYR1):c.10455+8C>T
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|
|
NM_000540.3(RYR1):c.10456-12G>A
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|
NM_000540.3(RYR1):c.10456-12G>C
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|
NM_000540.3(RYR1):c.10456-15C>T
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NM_000540.3(RYR1):c.10456-5C>T
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NM_000540.3(RYR1):c.10456-7C>A
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|
NM_000540.3(RYR1):c.10466C>G (p.Ser3489Trp)
|
rs764263987
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NM_000540.3(RYR1):c.10466C>T (p.Ser3489Leu)
|
rs764263987
|
|
NM_000540.3(RYR1):c.10467G>T (p.Ser3489=)
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|
|
NM_000540.3(RYR1):c.10471C>T (p.Gln3491Ter)
|
rs2145711507
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NM_000540.3(RYR1):c.10477C>T (p.Arg3493Cys)
|
rs750367227
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|
NM_000540.3(RYR1):c.1047T>C (p.His349=)
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|
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NM_000540.3(RYR1):c.10483AAG[2] (p.Lys3497del)
|
rs750515732
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NM_000540.3(RYR1):c.10484A>G (p.Lys3495Arg)
|
rs2145711633
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|
NM_000540.3(RYR1):c.10494C>A (p.Arg3498=)
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|
|
NM_000540.3(RYR1):c.10494C>T (p.Arg3498=)
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NM_000540.3(RYR1):c.10495C>T (p.Arg3499Trp)
|
rs147058802
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NM_000540.3(RYR1):c.10501G>T (p.Asp3501Tyr)
|
rs763259167
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NM_000540.3(RYR1):c.10501dup (p.Asp3501fs)
|
rs1568537774
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NM_000540.3(RYR1):c.10505G>C (p.Arg3502Pro)
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NM_000540.3(RYR1):c.10506G>A (p.Arg3502=)
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NM_000540.3(RYR1):c.10509C>T (p.Tyr3503=)
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NM_000540.3(RYR1):c.1050G>A (p.Val350=)
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NM_000540.3(RYR1):c.10521G>A (p.Thr3507=)
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NM_000540.3(RYR1):c.10526T>C (p.Leu3509Pro)
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NM_000540.3(RYR1):c.10529T>G (p.Ile3510Ser)
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|
|
NM_000540.3(RYR1):c.10531G>A (p.Val3511Met)
|
rs376389988
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NM_000540.3(RYR1):c.10531G>T (p.Val3511Leu)
|
rs376389988
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|
NM_000540.3(RYR1):c.10539A>G (p.Thr3513=)
|
rs1600921744
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NM_000540.3(RYR1):c.1053C>T (p.Ala351=)
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|
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NM_000540.3(RYR1):c.10543A>T (p.Lys3515Ter)
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NM_000540.3(RYR1):c.10544AGA[1] (p.Lys3516del)
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NM_000540.3(RYR1):c.10545G>C (p.Lys3515Asn)
|
rs1971424152
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NM_000540.3(RYR1):c.10548G>T (p.Lys3516Asn)
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|
|
NM_000540.3(RYR1):c.10552C>T (p.Leu3518=)
|
rs1555790423
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NM_000540.3(RYR1):c.10555C>T (p.Pro3519Ser)
|
rs2145712109
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NM_000540.3(RYR1):c.10556C>T (p.Pro3519Leu)
|
rs1600921854
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NM_000540.3(RYR1):c.10558A>G (p.Ile3520Val)
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NM_000540.3(RYR1):c.10560C>T (p.Ile3520=)
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NM_000540.3(RYR1):c.10561G>A (p.Gly3521Ser)
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NM_000540.3(RYR1):c.10561G>C (p.Gly3521Arg)
|
rs1420692006
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NM_000540.3(RYR1):c.10563C>A (p.Gly3521=)
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|
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NM_000540.3(RYR1):c.10564C>A (p.Leu3522Met)
|
rs200144997
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NM_000540.3(RYR1):c.10564C>T (p.Leu3522=)
|
rs200144997
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NM_000540.3(RYR1):c.10565_10566insAA (p.Asn3523fs)
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NM_000540.3(RYR1):c.10566G>A (p.Leu3522=)
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NM_000540.3(RYR1):c.10578G>T (p.Ala3526=)
|
rs368360689
|
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NM_000540.3(RYR1):c.10579C>T (p.Pro3527Ser)
|
rs118192164
|
|
NM_000540.3(RYR1):c.10587C>G (p.Asp3529Glu)
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NM_000540.3(RYR1):c.10587C>T (p.Asp3529=)
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NM_000540.3(RYR1):c.10595T>A (p.Leu3532His)
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NM_000540.3(RYR1):c.10599C>T (p.Ile3533=)
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NM_000540.3(RYR1):c.10602G>A (p.Thr3534=)
|
rs766572003
|
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NM_000540.3(RYR1):c.10602G>T (p.Thr3534=)
|
rs766572003
|
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NM_000540.3(RYR1):c.1060C>T (p.Leu354=)
|
rs2145361974
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NM_000540.3(RYR1):c.10615del (p.Arg3539fs)
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|
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NM_000540.3(RYR1):c.10618T>A (p.Tyr3540Asn)
|
rs1600922219
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NM_000540.3(RYR1):c.10619A>G (p.Tyr3540Cys)
|
rs752477271
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NM_000540.3(RYR1):c.10619dup (p.Tyr3540Ter)
|
rs780578391
|
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NM_000540.3(RYR1):c.10620C>G (p.Tyr3540Ter)
|
rs758247804
|
|
NM_000540.3(RYR1):c.10620C>T (p.Tyr3540=)
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|
|
NM_000540.3(RYR1):c.10622C>A (p.Ala3541Asp)
|
rs751242873
|
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NM_000540.3(RYR1):c.10622C>T (p.Ala3541Val)
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|
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NM_000540.3(RYR1):c.10623C>T (p.Ala3541=)
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|
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NM_000540.3(RYR1):c.10625T>C (p.Leu3542Pro)
|
rs1971428958
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NM_000540.3(RYR1):c.10626+11A>C
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NM_000540.3(RYR1):c.10626+13C>A
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NM_000540.3(RYR1):c.10626+14C>T
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NM_000540.3(RYR1):c.10626+16C>A
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NM_000540.3(RYR1):c.10626+16C>T
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NM_000540.3(RYR1):c.10626+19C>T
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NM_000540.3(RYR1):c.10626+1G>A
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NM_000540.3(RYR1):c.10626+20C>T
|
rs2145712587
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NM_000540.3(RYR1):c.10626+20del
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|
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NM_000540.3(RYR1):c.10626+302dup
|
rs200804401
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NM_000540.3(RYR1):c.10626+5C>G
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|
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NM_000540.3(RYR1):c.10626+9C>T
|
rs1259660659
|
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NM_000540.3(RYR1):c.10626G>A (p.Leu3542=)
|
rs1568538021
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NM_000540.3(RYR1):c.10626G>T (p.Leu3542=)
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NM_000540.3(RYR1):c.10627-10G>C
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NM_000540.3(RYR1):c.10627-12_10627-11del
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NM_000540.3(RYR1):c.10627-16G>C
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|
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NM_000540.3(RYR1):c.10627-1G>C
|
rs1568539909
|
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NM_000540.3(RYR1):c.10627-26_10627-19del
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|
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NM_000540.3(RYR1):c.10627-5C>T
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NM_000540.3(RYR1):c.10627-9T>C
|
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NM_000540.3(RYR1):c.10634_10635del (p.Thr3545fs)
|
|
|
NM_000540.3(RYR1):c.10649G>A (p.Arg3550Gln)
|
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|
NM_000540.3(RYR1):c.10650G>A (p.Arg3550=)
|
|
|
NM_000540.3(RYR1):c.10656T>C (p.Phe3552=)
|
rs1971495978
|
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NM_000540.3(RYR1):c.10656del (p.Leu3553fs)
|
|
|
NM_000540.3(RYR1):c.10662C>G (p.His3554Gln)
|
rs758686728
|
|
NM_000540.3(RYR1):c.10671del (p.His3558fs)
|
|
|
NM_000540.3(RYR1):c.10682G>A (p.Gly3561Glu)
|
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NM_000540.3(RYR1):c.10686+1G>A
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NM_000540.3(RYR1):c.10686+2T>C
|
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NM_000540.3(RYR1):c.10686+9C>T
|
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NM_000540.3(RYR1):c.10687-11C>T
|
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NM_000540.3(RYR1):c.10687-13_10687-11del
|
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NM_000540.3(RYR1):c.10687-16T>G
|
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NM_000540.3(RYR1):c.10687-20C>T
|
|
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NM_000540.3(RYR1):c.10687-2A>G
|
rs1600930323
|
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NM_000540.3(RYR1):c.10687-34C>T
|
rs886038312
|
|
NM_000540.3(RYR1):c.10687-7C>A
|
rs2960354
|
|
NM_000540.3(RYR1):c.10687-8_10687-7delinsTT
|
rs1555790909
|
|
NM_000540.3(RYR1):c.10687-9_10687-7del
|
|
|
NM_000540.3(RYR1):c.10689C>G (p.Val3563=)
|
|
|
NM_000540.3(RYR1):c.10689C>T (p.Val3563=)
|
|
|
NM_000540.3(RYR1):c.1068C>A (p.Leu356=)
|
|
|
NM_000540.3(RYR1):c.10690_10703del (p.Glu3564fs)
|
rs1555790914
|
|
NM_000540.3(RYR1):c.10700del (p.Pro3567fs)
|
rs1971528310
|
|
NM_000540.3(RYR1):c.10701G>C (p.Pro3567=)
|
|
|
NM_000540.3(RYR1):c.10702T>G (p.Ser3568Ala)
|
rs772784769
|
|
NM_000540.3(RYR1):c.10704T>A (p.Ser3568=)
|
|
|
NM_000540.3(RYR1):c.10707G>C (p.Leu3569=)
|
rs2145719865
|
|
NM_000540.3(RYR1):c.10710C>T (p.Arg3570=)
|
rs2145719885
|
|
NM_000540.3(RYR1):c.1071C>G (p.Thr357=)
|
|
|
NM_000540.3(RYR1):c.10725_10726del (p.Tyr3576fs)
|
rs1555790936
|
|
NM_000540.3(RYR1):c.10728C>T (p.Tyr3576=)
|
|
|
NM_000540.3(RYR1):c.10729C>G (p.Arg3577Gly)
|
rs538497899
|
|
NM_000540.3(RYR1):c.10731G>C (p.Arg3577=)
|
rs2145719961
|
|
NM_000540.3(RYR1):c.10737C>T (p.Val3579=)
|
|
|
NM_000540.3(RYR1):c.10739C>T (p.Pro3580Leu)
|
|
|
NM_000540.3(RYR1):c.10740G>A (p.Pro3580=)
|
|
|
NM_000540.3(RYR1):c.10742G>A (p.Gly3581Asp)
|
|
|
NM_000540.3(RYR1):c.10745G>T (p.Arg3582Leu)
|
|
|
NM_000540.3(RYR1):c.10749GGA[1] (p.Glu3584del)
|
|
|
NM_000540.3(RYR1):c.10750G>A (p.Glu3584Lys)
|
rs1600930723
|
|
NM_000540.3(RYR1):c.10750G>C (p.Glu3584Gln)
|
rs1600930723
|
|
NM_000540.3(RYR1):c.10752G>A (p.Glu3584=)
|
|
|
NM_000540.3(RYR1):c.10756G>A (p.Ala3586Thr)
|
|
|
NM_000540.3(RYR1):c.10756G>C (p.Ala3586Pro)
|
|
|
NM_000540.3(RYR1):c.10761T>C (p.Asp3587=)
|
|
|
NM_000540.3(RYR1):c.10765C>T (p.Pro3589Ser)
|
rs2145720131
|
|
NM_000540.3(RYR1):c.10767C>A (p.Pro3589=)
|
|
|
NM_000540.3(RYR1):c.10767C>T (p.Pro3589=)
|
|
|
NM_000540.3(RYR1):c.10776C>A (p.Ile3592=)
|
rs1289970470
|
|
NM_000540.3(RYR1):c.10776C>T (p.Ile3592=)
|
|
|
NM_000540.3(RYR1):c.10777G>A (p.Val3593Met)
|
rs1971532834
|
|
NM_000540.3(RYR1):c.1077T>G (p.Ala359=)
|
rs10406027
|
|
NM_000540.3(RYR1):c.10799C>G (p.Ser3600Ter)
|
rs1290121403
|
|
NM_000540.3(RYR1):c.10803C>A (p.Ala3601=)
|
rs141542477
|
|
NM_000540.3(RYR1):c.10804G>A (p.Val3602Met)
|
|
|
NM_000540.3(RYR1):c.10809C>G (p.Leu3603=)
|
rs762472365
|
|
NM_000540.3(RYR1):c.1080T>G (p.Ala360=)
|
rs2145362109
|
|
NM_000540.3(RYR1):c.10816C>T (p.Leu3606=)
|
|
|
NM_000540.3(RYR1):c.10817T>C (p.Leu3606Pro)
|
rs118192127
|
|
NM_000540.3(RYR1):c.1081C>T (p.Pro361Ser)
|
rs761707535
|
|
NM_000540.3(RYR1):c.10820A>G (p.Asp3607Gly)
|
rs1432880563
|
|
NM_000540.3(RYR1):c.10824+10G>A
|
|
|
NM_000540.3(RYR1):c.10824+12C>A
|
|
|
NM_000540.3(RYR1):c.10824+12C>T
|
|
|
NM_000540.3(RYR1):c.10824+13G>A
|
rs756468318
|
|
NM_000540.3(RYR1):c.10824+16G>A
|
|
|
NM_000540.3(RYR1):c.10824+17G>T
|
|
|
NM_000540.3(RYR1):c.10824+19G>A
|
|
|
NM_000540.3(RYR1):c.10824+19dup
|
rs748517849
|
|
NM_000540.3(RYR1):c.10824+1G>C
|
|
|
NM_000540.3(RYR1):c.10824+20T>A
|
|
|
NM_000540.3(RYR1):c.10824+2T>G
|
|
|
NM_000540.3(RYR1):c.10824+7G>A
|
|
|
NM_000540.3(RYR1):c.10825-13A>T
|
rs752927986
|
|
NM_000540.3(RYR1):c.10825-18C>T
|
|
|
NM_000540.3(RYR1):c.10825-19C>T
|
|
|
NM_000540.3(RYR1):c.10825-20T>A
|
|
|
NM_000540.3(RYR1):c.10825-9C>T
|
|
|
NM_000540.3(RYR1):c.10825A>G (p.Thr3609Ala)
|
|
|
NM_000540.3(RYR1):c.10827C>G (p.Thr3609=)
|
|
|
NM_000540.3(RYR1):c.10827C>T (p.Thr3609=)
|
rs1259807854
|
|
NM_000540.3(RYR1):c.10828G>A (p.Glu3610Lys)
|
rs1600933909
|
|
NM_000540.3(RYR1):c.10839C>A (p.Tyr3613Ter)
|
rs1052742630
|
|
NM_000540.3(RYR1):c.10850A>C (p.Lys3617Thr)
|
rs968796694
|
|
NM_000540.3(RYR1):c.10850A>G (p.Lys3617Arg)
|
|
|
NM_000540.3(RYR1):c.10851G>A (p.Lys3617=)
|
|
|
NM_000540.3(RYR1):c.10851G>C (p.Lys3617Asn)
|
rs867082264
|
|
NM_000540.3(RYR1):c.10852G>A (p.Ala3618Thr)
|
rs978802618
|
|
NM_000540.3(RYR1):c.10857G>C (p.Val3619=)
|
|
|
NM_000540.3(RYR1):c.10865del (p.Lys3622fs)
|
|
|
NM_000540.3(RYR1):c.10868T>G (p.Leu3623Arg)
|
|
|
NM_000540.3(RYR1):c.10881G>A (p.Gln3627=)
|
|
|
NM_000540.3(RYR1):c.10881G>C (p.Gln3627His)
|
rs1971573391
|
|
NM_000540.3(RYR1):c.10882C>A (p.Arg3628Ser)
|
rs1971573489
|
|
NM_000540.3(RYR1):c.10883G>A (p.Arg3628His)
|
rs1568541826
|
|
NM_000540.3(RYR1):c.10885C>T (p.Arg3629Trp)
|
rs1434232361
|
|
NM_000540.3(RYR1):c.10891G>T (p.Ala3631Ser)
|
rs1367333710
|
|
NM_000540.3(RYR1):c.10896C>T (p.Val3632=)
|
|
|
NM_000540.3(RYR1):c.10896dup (p.Val3633fs)
|
rs1971574442
|
|
NM_000540.3(RYR1):c.10901C>T (p.Ala3634Val)
|
|
|
NM_000540.3(RYR1):c.10904G>A (p.Cys3635Tyr)
|
|
|
NM_000540.3(RYR1):c.10910G>A (p.Arg3637His)
|
rs747528384
|
|
NM_000540.3(RYR1):c.10913T>C (p.Met3638Thr)
|
rs1971575070
|
|
NM_000540.3(RYR1):c.10920C>G (p.Pro3640=)
|
|
|
NM_000540.3(RYR1):c.10922T>C (p.Leu3641Pro)
|
rs1555791151
|
|
NM_000540.3(RYR1):c.10923G>T (p.Leu3641=)
|
rs2145722801
|
|
NM_000540.3(RYR1):c.10924T>G (p.Tyr3642Asp)
|
rs1971575594
|
|
NM_000540.3(RYR1):c.10929C>T (p.Asn3643=)
|
rs1600934396
|
|
NM_000540.3(RYR1):c.10935C>A (p.Pro3645=)
|
|
|
NM_000540.3(RYR1):c.10935C>T (p.Pro3645=)
|
|
|
NM_000540.3(RYR1):c.10937+11del
|
|
|
NM_000540.3(RYR1):c.10937+13G>A
|
|
|
NM_000540.3(RYR1):c.10937+16del
|
|
|
NM_000540.3(RYR1):c.10937+17C>G
|
|
|
NM_000540.3(RYR1):c.10937+1G>A
|
rs775682151
|
|
NM_000540.3(RYR1):c.10938-12T>C
|
|
|
NM_000540.3(RYR1):c.10938-12_10938-11delinsAT
|
rs1600935585
|
|
NM_000540.3(RYR1):c.10938-20G>A
|
|
|
NM_000540.3(RYR1):c.10938-6del
|
|
|
NM_000540.3(RYR1):c.10938-7C>G
|
|
|
NM_000540.3(RYR1):c.10938-86A>G
|
rs6508806
|
|
NM_000540.3(RYR1):c.10938-8C>A
|
rs1314510894
|
|
NM_000540.3(RYR1):c.10938-8C>T
|
rs1314510894
|
|
NM_000540.3(RYR1):c.10942C>G (p.Arg3648Gly)
|
|
|
NM_000540.3(RYR1):c.10942C>T (p.Arg3648Trp)
|
|
|
NM_000540.3(RYR1):c.10945G>C (p.Ala3649Pro)
|
|
|
NM_000540.3(RYR1):c.10946dup (p.Cys3650fs)
|
|
|
NM_000540.3(RYR1):c.10947A>G (p.Ala3649=)
|
|
|
NM_000540.3(RYR1):c.10948T>C (p.Cys3650Arg)
|
rs1167987822
|
|
NM_000540.3(RYR1):c.10954A>G (p.Met3652Val)
|
|
|
NM_000540.3(RYR1):c.10958T>A (p.Phe3653Tyr)
|
rs2145723708
|
|
NM_000540.3(RYR1):c.10960del (p.Leu3654fs)
|
rs1971589827
|
|
NM_000540.3(RYR1):c.10961T>C (p.Leu3654Pro)
|
|
|
NM_000540.3(RYR1):c.10961del (p.Leu3654fs)
|
|
|
NM_000540.3(RYR1):c.10962G>A (p.Leu3654=)
|
|
|
NM_000540.3(RYR1):c.10966A>G (p.Ser3656Gly)
|
rs774373483
|
|
NM_000540.3(RYR1):c.10980A>G (p.Ala3660=)
|
|
|
NM_000540.3(RYR1):c.10981T>A (p.Trp3661Arg)
|
|
|
NM_000540.3(RYR1):c.10985_11034+80delinsCCTCAA
|
rs2145723826
|
|
NM_000540.3(RYR1):c.10992T>C (p.Thr3664=)
|
|
|
NM_000540.3(RYR1):c.10999C>T (p.His3667Tyr)
|
|
|
NM_000540.3(RYR1):c.11000A>G (p.His3667Arg)
|
|
|
NM_000540.3(RYR1):c.11014C>A (p.Arg3672Ser)
|
rs765145018
|
|
NM_000540.3(RYR1):c.11014C>T (p.Arg3672Cys)
|
rs765145018
|
|
NM_000540.3(RYR1):c.11016C>T (p.Arg3672=)
|
|
|
NM_000540.3(RYR1):c.11020A>G (p.Ile3674Val)
|
rs1184741729
|
|
NM_000540.3(RYR1):c.11024A>G (p.Asp3675Gly)
|
|
|
NM_000540.3(RYR1):c.11028C>A (p.Asp3676Glu)
|
|
|
NM_000540.3(RYR1):c.11031T>A (p.Leu3677=)
|
|
|
NM_000540.3(RYR1):c.11034+12C>A
|
|
|
NM_000540.3(RYR1):c.11034+13C>T
|
|
|
NM_000540.3(RYR1):c.11034+14C>G
|
|
|
NM_000540.3(RYR1):c.11034+14C>T
|
|
|
NM_000540.3(RYR1):c.11034+19G>T
|
|
|
NM_000540.3(RYR1):c.11034+7T>C
|
|
|
NM_000540.3(RYR1):c.11034+9G>A
|
|
|
NM_000540.3(RYR1):c.11035-11del
|
rs2145724800
|
|
NM_000540.3(RYR1):c.11035-13C>G
|
|
|
NM_000540.3(RYR1):c.11035-19G>A
|
|
|
NM_000540.3(RYR1):c.11035-4C>T
|
|
|
NM_000540.3(RYR1):c.11046G>A (p.Glu3682=)
|
|
|
NM_000540.3(RYR1):c.11048A>G (p.Gln3683Arg)
|
rs1600937472
|
|
NM_000540.3(RYR1):c.11049GGA[2] (p.Glu3687_Glu3689del)
|
rs760784102
|
|
NM_000540.3(RYR1):c.11049GGA[4] (p.Glu3689del)
|
rs760784102
|
|
NM_000540.3(RYR1):c.11049GGA[6] (p.Glu3689dup)
|
rs760784102
|
|
NM_000540.3(RYR1):c.11050G>A (p.Glu3684Lys)
|
rs2145724866
|
|
NM_000540.3(RYR1):c.11053G>C (p.Glu3685Gln)
|
rs745315302
|
|
NM_000540.3(RYR1):c.11058G>A (p.Glu3686=)
|
|
|
NM_000540.3(RYR1):c.1105G>C (p.Gly369Arg)
|
|
|
NM_000540.3(RYR1):c.11064A>G (p.Glu3688=)
|
rs2145724906
|
|
NM_000540.3(RYR1):c.11071G>A (p.Glu3691Lys)
|
|
|
NM_000540.3(RYR1):c.11077AAG[1] (p.Lys3694del)
|
|
|
NM_000540.3(RYR1):c.11086G>C (p.Asp3696His)
|
rs2145724998
|
|
NM_000540.3(RYR1):c.11088C>T (p.Asp3696=)
|
rs909001720
|
|
NM_000540.3(RYR1):c.11089C>T (p.Pro3697Ser)
|
|
|
NM_000540.3(RYR1):c.1108G>A (p.Val370Met)
|
rs537344365
|
|
NM_000540.3(RYR1):c.1108G>C (p.Val370Leu)
|
rs537344365
|
|
NM_000540.3(RYR1):c.1108G>T (p.Val370Leu)
|
|
|
NM_000540.3(RYR1):c.11091C>A (p.Pro3697=)
|
rs201296563
|
|
NM_000540.3(RYR1):c.11091C>G (p.Pro3697=)
|
|
|
NM_000540.3(RYR1):c.11094G>T (p.Leu3698=)
|
rs941520055
|
|
NM_000540.3(RYR1):c.11100G>T (p.Gln3700His)
|
|
|
NM_000540.3(RYR1):c.11103G>A (p.Leu3701=)
|
|
|
NM_000540.3(RYR1):c.11115C>T (p.Phe3705=)
|
rs2145725120
|
|
NM_000540.3(RYR1):c.11117_11122dup (p.Arg3707_Thr3708insSerArg)
|
|
|
NM_000540.3(RYR1):c.11119C>T (p.Arg3707Cys)
|
rs781379239
|
|
NM_000540.3(RYR1):c.11119del (p.Arg3707fs)
|
|
|
NM_000540.3(RYR1):c.11120G>A (p.Arg3707His)
|
|
|
NM_000540.3(RYR1):c.11120G>C (p.Arg3707Pro)
|
rs193922838
|
|
NM_000540.3(RYR1):c.11120G>T (p.Arg3707Leu)
|
rs193922838
|
|
NM_000540.3(RYR1):c.11123C>G (p.Thr3708Ser)
|
|
|
NM_000540.3(RYR1):c.11126C>T (p.Ala3709Val)
|
rs1555791418
|
|
NM_000540.3(RYR1):c.11127C>G (p.Ala3709=)
|
|
|
NM_000540.3(RYR1):c.11130G>A (p.Leu3710=)
|
|
|
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.11135A>G (p.Glu3712Gly)
|
|
|
NM_000540.3(RYR1):c.11138A>G (p.Lys3713Arg)
|
rs1971614117
|
|
NM_000540.3(RYR1):c.11141+10C>G
|
rs753259681
|
|
NM_000540.3(RYR1):c.11141+10_11141+11del
|
|
|
NM_000540.3(RYR1):c.11141+20C>T
|
|
|
NM_000540.3(RYR1):c.11141+253G>A
|
rs2960353
|
|
NM_000540.3(RYR1):c.11141+7A>T
|
|
|
NM_000540.3(RYR1):c.11141G>A (p.Ser3714Asn)
|
rs772821039
|
|
NM_000540.3(RYR1):c.11141G>T (p.Ser3714Ile)
|
rs772821039
|
|
NM_000540.3(RYR1):c.11142-14G>A
|
|
|
NM_000540.3(RYR1):c.11142-16C>A
|
|
|
NM_000540.3(RYR1):c.11142-17C>T
|
|
|
NM_000540.3(RYR1):c.11142-18C>G
|
|
|
NM_000540.3(RYR1):c.11142-20_11142-18del
|
|
|
NM_000540.3(RYR1):c.11142-4C>G
|
rs760163765
|
|
NM_000540.3(RYR1):c.11142-6C>T
|
|
|
NM_000540.3(RYR1):c.11147T>A (p.Leu3716Gln)
|
|
|
NM_000540.3(RYR1):c.1114AAG[2] (p.Lys374del)
|
rs745569223
|
|
NM_000540.3(RYR1):c.11154_11155delinsTC (p.Glu3718_Asp3719delinsAspHis)
|
rs1971783338
|
|
NM_000540.3(RYR1):c.11159A>G (p.Tyr3720Cys)
|
|
|
NM_000540.3(RYR1):c.11159_11162dup (p.Tyr3722fs)
|
rs2145736348
|
|
NM_000540.3(RYR1):c.11163G>A (p.Leu3721=)
|
|
|
NM_000540.3(RYR1):c.11166C>T (p.Tyr3722=)
|
|
|
NM_000540.3(RYR1):c.1116G>A (p.Lys372=)
|
rs193922763
|
|
NM_000540.3(RYR1):c.11178_11193+7del
|
rs1600949818
|
|
NM_000540.3(RYR1):c.11184C>G (p.Ile3728Met)
|
rs111200476
|
|
NM_000540.3(RYR1):c.11187G>A (p.Met3729Ile)
|
|
|
NM_000540.3(RYR1):c.11193+14C>G
|
|
|
NM_000540.3(RYR1):c.11193+14_11193+20dup
|
|
|
NM_000540.3(RYR1):c.11193+15C>A
|
|
|
NM_000540.3(RYR1):c.11193+15C>T
|
rs370928637
|
|
NM_000540.3(RYR1):c.11193+16C>A
|
|
|
NM_000540.3(RYR1):c.11193+16C>T
|
|
|
NM_000540.3(RYR1):c.11193+17C>G
|
|
|
NM_000540.3(RYR1):c.11193+17C>T
|
|
|
NM_000540.3(RYR1):c.11193+17del
|
|
|
NM_000540.3(RYR1):c.11193+17dup
|
rs745559174
|
|
NM_000540.3(RYR1):c.11193+18T>G
|
|
|
NM_000540.3(RYR1):c.11193+19C>G
|
|
|
NM_000540.3(RYR1):c.11193+19C>T
|
|
|
NM_000540.3(RYR1):c.11194-18C>T
|
|
|
NM_000540.3(RYR1):c.11194-3C>T
|
|
|
NM_000540.3(RYR1):c.11194-6C>T
|
|
|
NM_000540.3(RYR1):c.11194-7T>G
|
|
|
NM_000540.3(RYR1):c.11194-8C>T
|
|
|
NM_000540.3(RYR1):c.11194-9C>G
|
|
|
NM_000540.3(RYR1):c.11199C>T (p.Cys3733=)
|
|
|
NM_000540.3(RYR1):c.111C>T (p.Ala37=)
|
|
|
NM_000540.3(RYR1):c.11211G>A (p.Glu3737=)
|
|
|
NM_000540.3(RYR1):c.1122+12C>G
|
rs780325041
|
|
NM_000540.3(RYR1):c.1122+13C>T
|
|
|
NM_000540.3(RYR1):c.1122+14C>T
|
|
|
NM_000540.3(RYR1):c.1122+16G>A
|
|
|
NM_000540.3(RYR1):c.1122+44C>T
|
rs8101724
|
|
NM_000540.3(RYR1):c.1122+5G>A
|
rs1966928423
|
|
NM_000540.3(RYR1):c.1122+6T>G
|
rs1600657309
|
|
NM_000540.3(RYR1):c.1122+7G>A
|
|
|
NM_000540.3(RYR1):c.1122+95T>C
|
rs8102524
|
|
NM_000540.3(RYR1):c.11229A>C (p.Glu3743Asp)
|
|
|
NM_000540.3(RYR1):c.1123-18_1123-17del
|
|
|
NM_000540.3(RYR1):c.1123-4C>A
|
|
|
NM_000540.3(RYR1):c.1123-9del
|
rs775029935
|
|
NM_000540.3(RYR1):c.11231C>G (p.Ala3744Gly)
|
rs1600950619
|
|
NM_000540.3(RYR1):c.11243T>C (p.Val3748Ala)
|
|
|
NM_000540.3(RYR1):c.11245G>T (p.Glu3749Ter)
|
|
|
NM_000540.3(RYR1):c.11247G>A (p.Glu3749=)
|
|
|
NM_000540.3(RYR1):c.11253C>G (p.Ser3751=)
|
|
|
NM_000540.3(RYR1):c.11254T>C (p.Phe3752Leu)
|
rs2145737256
|
|
NM_000540.3(RYR1):c.11259+18G>A
|
|
|
NM_000540.3(RYR1):c.11259+7G>A
|
|
|
NM_000540.3(RYR1):c.11259+8G>A
|
rs532738390
|
|
NM_000540.3(RYR1):c.11260-16C>T
|
|
|
NM_000540.3(RYR1):c.11260-18G>A
|
|
|
NM_000540.3(RYR1):c.11269A>T (p.Met3757Leu)
|
rs189249768
|
|
NM_000540.3(RYR1):c.11272del (p.Glu3758fs)
|
|
|
NM_000540.3(RYR1):c.11284C>T (p.Leu3762Phe)
|
rs1373874840
|
|
NM_000540.3(RYR1):c.11286C>T (p.Leu3762=)
|
|
|
NM_000540.3(RYR1):c.11287T>C (p.Leu3763=)
|
|
|
NM_000540.3(RYR1):c.11292C>T (p.Tyr3764=)
|
rs886054401
|
|
NM_000540.3(RYR1):c.1129C>T (p.Leu377=)
|
|
|
NM_000540.3(RYR1):c.112G>A (p.Ala38Thr)
|
rs377558801
|
|
NM_000540.3(RYR1):c.112G>T (p.Ala38Ser)
|
rs377558801
|
|
NM_000540.3(RYR1):c.11303G>A (p.Arg3768Gln)
|
|
|
NM_000540.3(RYR1):c.11305C>T (p.Leu3769=)
|
|
|
NM_000540.3(RYR1):c.11307G>A (p.Leu3769=)
|
rs2145744039
|
|
NM_000540.3(RYR1):c.11308C>G (p.His3770Asp)
|
|
|
NM_000540.3(RYR1):c.11310C>T (p.His3770=)
|
|
|
NM_000540.3(RYR1):c.11314C>G (p.Arg3772Gly)
|
rs763112609
|
|
NM_000540.3(RYR1):c.11315G>T (p.Arg3772Leu)
|
rs193922839
|
|
NM_000540.3(RYR1):c.11316G>A (p.Arg3772=)
|
rs1600957918
|
|
NM_000540.3(RYR1):c.1131G>A (p.Leu377=)
|
rs1555766901
|
|
NM_000540.3(RYR1):c.11320del (p.Ala3774fs)
|
rs768698639
|
|
NM_000540.3(RYR1):c.11320dup (p.Ala3774fs)
|
rs768698639
|
|
NM_000540.3(RYR1):c.11321C>A (p.Ala3774Glu)
|
|
|
NM_000540.3(RYR1):c.11322G>A (p.Ala3774=)
|
|
|
NM_000540.3(RYR1):c.11324C>T (p.Ala3775Val)
|
rs1971892835
|
|
NM_000540.3(RYR1):c.11325C>T (p.Ala3775=)
|
|
|
NM_000540.3(RYR1):c.11326G>T (p.Glu3776Ter)
|
|
|
NM_000540.3(RYR1):c.11336T>C (p.Leu3779Pro)
|
|
|
NM_000540.3(RYR1):c.11339A>C (p.Gln3780Pro)
|
|
|
NM_000540.3(RYR1):c.11342T>A (p.Met3781Lys)
|
rs973487940
|
|
NM_000540.3(RYR1):c.11348G>A (p.Ser3783Asn)
|
rs1971894276
|
|
NM_000540.3(RYR1):c.11354G>A (p.Cys3785Tyr)
|
rs1320234323
|
|
NM_000540.3(RYR1):c.11357A>G (p.Lys3786Arg)
|
rs2145744357
|
|
NM_000540.3(RYR1):c.11359+16G>A
|
|
|
NM_000540.3(RYR1):c.11360-11_11360-10del
|
|
|
NM_000540.3(RYR1):c.11360-14C>T
|
rs1971910372
|
|
NM_000540.3(RYR1):c.11360-16del
|
|
|
NM_000540.3(RYR1):c.11360-18T>C
|
|
|
NM_000540.3(RYR1):c.11360-1_11374del
|
rs1568549310
|
|
NM_000540.3(RYR1):c.11360-6C>T
|
|
|
NM_000540.3(RYR1):c.11360-7C>T
|
|
|
NM_000540.3(RYR1):c.11360-8C>G
|
rs2145745624
|
|
NM_000540.3(RYR1):c.11363A>G (p.Glu3788Gly)
|
|
|
NM_000540.3(RYR1):c.11369G>T (p.Gly3790Val)
|
|
|
NM_000540.3(RYR1):c.11373C>T (p.Ala3791=)
|
rs2145745708
|
|
NM_000540.3(RYR1):c.11388C>T (p.Thr3796=)
|
rs2145745758
|
|
NM_000540.3(RYR1):c.11397G>T (p.Leu3799=)
|
|
|
NM_000540.3(RYR1):c.11403C>T (p.Ile3801=)
|
rs1471639760
|
|
NM_000540.3(RYR1):c.11416G>A (p.Gly3806Arg)
|
rs111565359
|
|
NM_000540.3(RYR1):c.11420G>A (p.Gly3807Asp)
|
|
|
NM_000540.3(RYR1):c.11432T>A (p.Val3811Asp)
|
|
|
NM_000540.3(RYR1):c.11434C>T (p.Gln3812Ter)
|
|
|
NM_000540.3(RYR1):c.11439+12A>G
|
|
|
NM_000540.3(RYR1):c.11439+15G>A
|
|
|
NM_000540.3(RYR1):c.11439+1G>C
|
|
|
NM_000540.3(RYR1):c.11439+7G>A
|
|
|
NM_000540.3(RYR1):c.11440-11G>A
|
rs1971918345
|
|
NM_000540.3(RYR1):c.11440-15C>T
|
|
|
NM_000540.3(RYR1):c.11440-16G>T
|
|
|
NM_000540.3(RYR1):c.11440-18C>T
|
|
|
NM_000540.3(RYR1):c.11440-6C>T
|
|
|
NM_000540.3(RYR1):c.11440-7T>G
|
|
|
NM_000540.3(RYR1):c.11440-9C>T
|
|
|
NM_000540.3(RYR1):c.11445G>T (p.Met3815Ile)
|
|
|
NM_000540.3(RYR1):c.11446C>T (p.Leu3816=)
|
rs527854918
|
|
NM_000540.3(RYR1):c.11449G>A (p.Asp3817Asn)
|
|
|
NM_000540.3(RYR1):c.1144C>A (p.His382Asn)
|
rs2145374470
|
|
NM_000540.3(RYR1):c.11450A>G (p.Asp3817Gly)
|
|
|
NM_000540.3(RYR1):c.11454T>C (p.Tyr3818=)
|
|
|
NM_000540.3(RYR1):c.11455C>T (p.Leu3819Phe)
|
|
|
NM_000540.3(RYR1):c.11469G>A (p.Lys3823=)
|
|
|
NM_000540.3(RYR1):c.11478C>T (p.Gly3826=)
|
rs1600960517
|
|
NM_000540.3(RYR1):c.1147A>G (p.Met383Val)
|
|
|
NM_000540.3(RYR1):c.11486A>G (p.Gln3829Arg)
|
rs926889814
|
|
NM_000540.3(RYR1):c.11494C>T (p.Gln3832Ter)
|
|
|
NM_000540.3(RYR1):c.11504T>G (p.Met3835Arg)
|
|
|
NM_000540.3(RYR1):c.11516+14G>A
|
|
|
NM_000540.3(RYR1):c.11516+16C>T
|
|
|
NM_000540.3(RYR1):c.11516+20T>C
|
|
|
NM_000540.3(RYR1):c.11516+22_11516+24del
|
|
|
NM_000540.3(RYR1):c.11516+9G>A
|
rs370432370
|
|
NM_000540.3(RYR1):c.11516G>A (p.Ser3839Asn)
|
|
|
NM_000540.3(RYR1):c.11516G>C (p.Ser3839Thr)
|
rs573322113
|
|
NM_000540.3(RYR1):c.11517-11C>T
|
|
|
NM_000540.3(RYR1):c.11517-16C>T
|
|
|
NM_000540.3(RYR1):c.11517-19T>G
|
|
|
NM_000540.3(RYR1):c.11517-2A>G
|
|
|
NM_000540.3(RYR1):c.11523G>A (p.Leu3841=)
|
|
|
NM_000540.3(RYR1):c.11531A>G (p.Asn3844Ser)
|
rs1461850175
|
|
NM_000540.3(RYR1):c.11539G>C (p.Glu3847Gln)
|
|
|
NM_000540.3(RYR1):c.11541G>A (p.Glu3847=)
|
rs1386408853
|
|
NM_000540.3(RYR1):c.11543G>A (p.Arg3848Lys)
|
rs1452778797
|
|
NM_000540.3(RYR1):c.11548A>G (p.Asn3850Asp)
|
rs1600963167
|
|
NM_000540.3(RYR1):c.11553G>A (p.Lys3851=)
|
rs2145748784
|
|
NM_000540.3(RYR1):c.11557G>C (p.Glu3853Gln)
|
|
|
NM_000540.3(RYR1):c.11559G>A (p.Glu3853=)
|
rs1350999259
|
|
NM_000540.3(RYR1):c.11562G>C (p.Gly3854=)
|
|
|
NM_000540.3(RYR1):c.11563C>T (p.Leu3855=)
|
rs748449335
|
|
NM_000540.3(RYR1):c.11571G>A (p.Met3857Ile)
|
rs1329151420
|
|
NM_000540.3(RYR1):c.11573T>A (p.Val3858Glu)
|
rs959531046
|
|
NM_000540.3(RYR1):c.11577T>C (p.Asn3859=)
|
|
|
NM_000540.3(RYR1):c.11590+10T>A
|
|
|
NM_000540.3(RYR1):c.11590+12C>T
|
|
|
NM_000540.3(RYR1):c.11590+13C>T
|
rs12979769
|
|
NM_000540.3(RYR1):c.11590+16G>A
|
|
|
NM_000540.3(RYR1):c.11590+17G>A
|
|
|
NM_000540.3(RYR1):c.11590+18G>C
|
rs367813174
|
|
NM_000540.3(RYR1):c.11590+18G>T
|
|
|
NM_000540.3(RYR1):c.11590+19C>T
|
|
|
NM_000540.3(RYR1):c.11590+20T>G
|
rs2145749061
|
|
NM_000540.3(RYR1):c.11590+219_11590+220del
|
rs71165557
|
|
NM_000540.3(RYR1):c.11590+220del
|
rs71165557
|
|
NM_000540.3(RYR1):c.11590+43C>T
|
rs12979784
|
|
NM_000540.3(RYR1):c.11590+6G>A
|
|
|
NM_000540.3(RYR1):c.11590+7C>T
|
|
|
NM_000540.3(RYR1):c.11590+8C>T
|
|
|
NM_000540.3(RYR1):c.11591-113_11591-110del
|
rs141905187
|
|
NM_000540.3(RYR1):c.11591-1G>A
|
|
|
NM_000540.3(RYR1):c.11591-5C>G
|
|
|
NM_000540.3(RYR1):c.11591-7G>A
|
|
|
NM_000540.3(RYR1):c.11591-9C>T
|
|
|
NM_000540.3(RYR1):c.11597A>G (p.Asn3866Ser)
|
|
|
NM_000540.3(RYR1):c.11608+10C>G
|
rs371611286
|
|
NM_000540.3(RYR1):c.11608+11C>T
|
|
|
NM_000540.3(RYR1):c.11608+12A>C
|
|
|
NM_000540.3(RYR1):c.11608+12_11608+22del
|
rs1600966926
|
|
NM_000540.3(RYR1):c.11608+19C>T
|
|
|
NM_000540.3(RYR1):c.11608+1G>A
|
|
|
NM_000540.3(RYR1):c.11608+1G>C
|
|
|
NM_000540.3(RYR1):c.11608+20C>T
|
|
|
NM_000540.3(RYR1):c.11609-133A>T
|
rs112148182
|
|
NM_000540.3(RYR1):c.11609-16C>T
|
|
|
NM_000540.3(RYR1):c.11616G>A (p.Lys3872=)
|
|
|
NM_000540.3(RYR1):c.11623G>A (p.Ala3875Thr)
|
rs764309886
|
|
NM_000540.3(RYR1):c.11641C>G (p.Gln3881Glu)
|
|
|
NM_000540.3(RYR1):c.11642A>G (p.Gln3881Arg)
|
rs1972043775
|
|
NM_000540.3(RYR1):c.11646C>T (p.Asp3882=)
|
|
|
NM_000540.3(RYR1):c.11649G>C (p.Leu3883=)
|
|
|
NM_000540.3(RYR1):c.1164G>A (p.Ser388=)
|
|
|
NM_000540.3(RYR1):c.11653C>A (p.Arg3885=)
|
|
|
NM_000540.3(RYR1):c.11654G>A (p.Arg3885Gln)
|
|
|
NM_000540.3(RYR1):c.11658C>T (p.Phe3886=)
|
rs2145756550
|
|
NM_000540.3(RYR1):c.1165C>T (p.Leu389=)
|
rs148587119
|
|
NM_000540.3(RYR1):c.11661A>G (p.Leu3887=)
|
|
|
NM_000540.3(RYR1):c.11662C>T (p.Gln3888Ter)
|
rs1555793236
|
|
NM_000540.3(RYR1):c.11668C>A (p.Leu3890Ile)
|
|
|
NM_000540.3(RYR1):c.11668C>T (p.Leu3890Phe)
|
rs779991914
|
|
NM_000540.3(RYR1):c.11670C>T (p.Leu3890=)
|
|
|
NM_000540.3(RYR1):c.11679G>A (p.Gly3893=)
|
|
|
NM_000540.3(RYR1):c.11680C>T (p.His3894Tyr)
|
rs2145756647
|
|
NM_000540.3(RYR1):c.11682C>T (p.His3894=)
|
|
|
NM_000540.3(RYR1):c.11687A>T (p.Asn3896Ile)
|
rs1555793251
|
|
NM_000540.3(RYR1):c.11689+11G>C
|
rs934539192
|
|
NM_000540.3(RYR1):c.11689+14G>A
|
|
|
NM_000540.3(RYR1):c.11689+159T>C
|
rs2071091
|
|
NM_000540.3(RYR1):c.11689+159T>G
|
rs2071091
|
|
NM_000540.3(RYR1):c.11689+15T>C
|
|
|
NM_000540.3(RYR1):c.11689+17T>C
|
|
|
NM_000540.3(RYR1):c.11689+18G>T
|
rs1568552691
|
|
NM_000540.3(RYR1):c.11689+20G>A
|
|
|
NM_000540.3(RYR1):c.11689+7A>T
|
rs1600971079
|
|
NM_000540.3(RYR1):c.11689+9G>A
|
|
|
NM_000540.3(RYR1):c.11689+9G>T
|
|
|
NM_000540.3(RYR1):c.11690-11C>A
|
|
|
NM_000540.3(RYR1):c.11690-18G>A
|
rs1181748283
|
|
NM_000540.3(RYR1):c.11690-2A>C
|
rs2145774562
|
|
NM_000540.3(RYR1):c.11690-3del
|
|
|
NM_000540.3(RYR1):c.11690-8C>A
|
|
|
NM_000540.3(RYR1):c.11694C>A (p.Phe3898Leu)
|
rs2145774587
|
|
NM_000540.3(RYR1):c.11697G>C (p.Gln3899His)
|
rs1555794184
|
|
NM_000540.3(RYR1):c.11697G>T (p.Gln3899His)
|
rs1555794184
|
|
NM_000540.3(RYR1):c.11698A>T (p.Asn3900Tyr)
|
rs2145774604
|
|
NM_000540.3(RYR1):c.1169C>T (p.Thr390Ile)
|
|
|
NM_000540.3(RYR1):c.116A>G (p.Glu39Gly)
|
rs1600630863
|
|
NM_000540.3(RYR1):c.11700C>T (p.Asn3900=)
|
|
|
NM_000540.3(RYR1):c.11704C>T (p.Leu3902=)
|
|
|
NM_000540.3(RYR1):c.11708G>T (p.Arg3903Leu)
|
|
|
NM_000540.3(RYR1):c.11715G>A (p.Gln3905=)
|
|
|
NM_000540.3(RYR1):c.11715G>C (p.Gln3905His)
|
|
|
NM_000540.3(RYR1):c.11716A>T (p.Thr3906Ser)
|
rs1972283336
|
|
NM_000540.3(RYR1):c.1171C>T (p.Arg391Cys)
|
|
|
NM_000540.3(RYR1):c.11723A>T (p.Asn3908Ile)
|
rs141803364
|
|
NM_000540.3(RYR1):c.11727G>A (p.Thr3909=)
|
|
|
NM_000540.3(RYR1):c.11730C>G (p.Thr3910=)
|
|
|
NM_000540.3(RYR1):c.11742C>G (p.Ile3914Met)
|
|
|
NM_000540.3(RYR1):c.11748T>G (p.Ile3916Met)
|
rs193922840
|
|
NM_000540.3(RYR1):c.1174_1176dup (p.Cys392_Gln393insCys)
|
|
|
NM_000540.3(RYR1):c.11754T>G (p.Thr3918=)
|
|
|
NM_000540.3(RYR1):c.11755G>T (p.Val3919Leu)
|
|
|
NM_000540.3(RYR1):c.11760C>G (p.Asp3920Glu)
|
rs1568557623
|
|
NM_000540.3(RYR1):c.11761T>C (p.Tyr3921His)
|
|
|
NM_000540.3(RYR1):c.11776C>T (p.Gln3926Ter)
|
|
|
NM_000540.3(RYR1):c.11778+13del
|
|
|
NM_000540.3(RYR1):c.11778+15C>T
|
|
|
NM_000540.3(RYR1):c.11778+16G>A
|
|
|
NM_000540.3(RYR1):c.11778+16G>C
|
|
|
NM_000540.3(RYR1):c.11778+1G>T
|
rs1555794209
|
|
NM_000540.3(RYR1):c.11778+9G>A
|
rs371213685
|
|
NM_000540.3(RYR1):c.11778G>A (p.Gln3926=)
|
rs193922841
|
|
NM_000540.3(RYR1):c.11779-10C>G
|
|
|
NM_000540.3(RYR1):c.11779-11G>A
|
|
|
NM_000540.3(RYR1):c.11779-11G>T
|
|
|
NM_000540.3(RYR1):c.11779-12C>T
|
|
|
NM_000540.3(RYR1):c.11779-14C>A
|
|
|
NM_000540.3(RYR1):c.11779-18C>T
|
|
|
NM_000540.3(RYR1):c.11779-4C>T
|
rs1555794234
|
|
NM_000540.3(RYR1):c.11784C>T (p.Ser3928=)
|
|
|
NM_000540.3(RYR1):c.11787C>T (p.Ile3929=)
|
rs1183274774
|
|
NM_000540.3(RYR1):c.11790C>T (p.Ser3930=)
|
|
|
NM_000540.3(RYR1):c.11807A>G (p.Tyr3936Cys)
|
|
|
NM_000540.3(RYR1):c.11808C>T (p.Tyr3936=)
|
|
|
NM_000540.3(RYR1):c.11809T>C (p.Ser3937Pro)
|
rs1972295482
|
|
NM_000540.3(RYR1):c.11810C>T (p.Ser3937Leu)
|
|
|
NM_000540.3(RYR1):c.11813G>A (p.Gly3938Asp)
|
rs1972296024
|
|
NM_000540.3(RYR1):c.11817G>A (p.Lys3939=)
|
rs2145775547
|
|
NM_000540.3(RYR1):c.11819A>G (p.Asp3940Gly)
|
rs1972296147
|
|
NM_000540.3(RYR1):c.11820T>G (p.Asp3940Glu)
|
rs1972296252
|
|
NM_000540.3(RYR1):c.11823C>T (p.Val3941=)
|
|
|
NM_000540.3(RYR1):c.11824A>G (p.Ile3942Val)
|
rs1185251744
|
|
NM_000540.3(RYR1):c.11847C>T (p.Asn3949=)
|
|
|
NM_000540.3(RYR1):c.11856A>G (p.Lys3952=)
|
|
|
NM_000540.3(RYR1):c.11859C>G (p.Ala3953=)
|
|
|
NM_000540.3(RYR1):c.11864C>G (p.Ser3955Trp)
|
rs751225696
|
|
NM_000540.3(RYR1):c.11865G>A (p.Ser3955=)
|
|
|
NM_000540.3(RYR1):c.1186G>A (p.Glu396Lys)
|
rs774919231
|
|
NM_000540.3(RYR1):c.1186_1187inv (p.Glu396Ser)
|
|
|
NM_000540.3(RYR1):c.11871dup (p.Lys3958Ter)
|
|
|
NM_000540.3(RYR1):c.11885A>G (p.Asn3962Ser)
|
|
|
NM_000540.3(RYR1):c.11888G>C (p.Ser3963Thr)
|
rs2145775695
|
|
NM_000540.3(RYR1):c.1188G>A (p.Glu396=)
|
|
|
NM_000540.3(RYR1):c.11892C>T (p.Leu3964=)
|
rs755656930
|
|
NM_000540.3(RYR1):c.11895T>A (p.Thr3965=)
|
rs1230561247
|
|
NM_000540.3(RYR1):c.11895_11896del (p.Glu3966fs)
|
|
|
NM_000540.3(RYR1):c.11898G>A (p.Glu3966=)
|
|
|
NM_000540.3(RYR1):c.11905C>A (p.Gln3969Lys)
|
rs748748397
|
|
NM_000540.3(RYR1):c.11906A>G (p.Gln3969Arg)
|
rs1555794268
|
|
NM_000540.3(RYR1):c.11907+11C>A
|
|
|
NM_000540.3(RYR1):c.11907+14C>G
|
|
|
NM_000540.3(RYR1):c.11907+14C>T
|
|
|
NM_000540.3(RYR1):c.11907+15C>G
|
|
|
NM_000540.3(RYR1):c.11907+18G>A
|
|
|
NM_000540.3(RYR1):c.11907+19G>A
|
|
|
NM_000540.3(RYR1):c.11907+7C>T
|
|
|
NM_000540.3(RYR1):c.11907+7_11907+19del
|
rs1555794270
|
|
NM_000540.3(RYR1):c.11907+8G>A
|
rs886054402
|
|
NM_000540.3(RYR1):c.11908-16G>A
|
|
|
NM_000540.3(RYR1):c.11908-20C>A
|
|
|
NM_000540.3(RYR1):c.11908-2A>T
|
rs763146574
|
|
NM_000540.3(RYR1):c.11908-7C>T
|
|
|
NM_000540.3(RYR1):c.11913C>G (p.Pro3971=)
|
|
|
NM_000540.3(RYR1):c.11919C>T (p.Thr3973=)
|
|
|
NM_000540.3(RYR1):c.11920G>C (p.Gly3974Arg)
|
rs774432541
|
|
NM_000540.3(RYR1):c.11922G>C (p.Gly3974=)
|
rs62119053
|
|
NM_000540.3(RYR1):c.11929C>T (p.Gln3977Ter)
|
rs1447117024
|
|
NM_000540.3(RYR1):c.11932A>G (p.Ser3978Gly)
|
|
|
NM_000540.3(RYR1):c.11933G>A (p.Ser3978Asn)
|
|
|
NM_000540.3(RYR1):c.11940G>C (p.Ala3980=)
|
rs750022861
|
|
NM_000540.3(RYR1):c.11940G>T (p.Ala3980=)
|
rs750022861
|
|
NM_000540.3(RYR1):c.11947C>T (p.Arg3983Cys)
|
rs1600989183
|
|
NM_000540.3(RYR1):c.11949C>G (p.Arg3983=)
|
|
|
NM_000540.3(RYR1):c.11950C>T (p.Leu3984=)
|
|
|
NM_000540.3(RYR1):c.11952A>G (p.Leu3984=)
|
|
|
NM_000540.3(RYR1):c.11953T>C (p.Trp3985Arg)
|
rs118204422
|
|
NM_000540.3(RYR1):c.11956del (p.Asp3986fs)
|
|
|
NM_000540.3(RYR1):c.11958C>G (p.Asp3986Glu)
|
rs193922842
|
|
NM_000540.3(RYR1):c.11961A>C (p.Ala3987=)
|
|
|
NM_000540.3(RYR1):c.11969G>C (p.Gly3990Ala)
|
rs193922843
|
|
NM_000540.3(RYR1):c.11969G>T (p.Gly3990Val)
|
rs193922843
|
|
NM_000540.3(RYR1):c.1196C>A (p.Ala399Asp)
|
rs1443878514
|
|
NM_000540.3(RYR1):c.1196C>T (p.Ala399Val)
|
rs1443878514
|
|
NM_000540.3(RYR1):c.11979C>T (p.His3993=)
|
|
|
NM_000540.3(RYR1):c.11985C>T (p.Phe3995=)
|
rs536629932
|
|
NM_000540.3(RYR1):c.11988C>T (p.Ala3996=)
|
|
|
NM_000540.3(RYR1):c.1198G>A (p.Ala400Thr)
|
rs777016690
|
|
NM_000540.3(RYR1):c.11992dup (p.Met3998fs)
|
|
|
NM_000540.3(RYR1):c.11993TGA[2] (p.Met4000del)
|
rs2145776584
|
|
NM_000540.3(RYR1):c.119G>C (p.Gly40Ala)
|
rs2145320724
|
|
NM_000540.3(RYR1):c.12000G>A (p.Met4000Ile)
|
rs1972311281
|
|
NM_000540.3(RYR1):c.1200C>T (p.Ala400=)
|
|
|
NM_000540.3(RYR1):c.12010C>G (p.Gln4004Glu)
|
rs1972311901
|
|
NM_000540.3(RYR1):c.12010C>T (p.Gln4004Ter)
|
|
|
NM_000540.3(RYR1):c.12012+12T>G
|
rs2145776705
|
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NM_000540.3(RYR1):c.12012+13C>A
|
rs1370394106
|
|
NM_000540.3(RYR1):c.12012+14T>G
|
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|
NM_000540.3(RYR1):c.12012+16G>C
|
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|
NM_000540.3(RYR1):c.12012+73del
|
rs142517959
|
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NM_000540.3(RYR1):c.12012+7G>A
|
|
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NM_000540.3(RYR1):c.12012+7_12012+16del
|
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|
NM_000540.3(RYR1):c.12012G>A (p.Gln4004=)
|
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|
NM_000540.3(RYR1):c.12013-10G>A
|
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NM_000540.3(RYR1):c.12013-11G>A
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NM_000540.3(RYR1):c.12013-13C>G
|
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|
NM_000540.3(RYR1):c.12013-15A>G
|
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NM_000540.3(RYR1):c.12013-17C>G
|
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NM_000540.3(RYR1):c.12013-17C>T
|
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|
NM_000540.3(RYR1):c.12013-18C>A
|
rs377516769
|
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NM_000540.3(RYR1):c.12013-18C>T
|
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NM_000540.3(RYR1):c.12013-2A>G
|
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NM_000540.3(RYR1):c.12013-4C>T
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NM_000540.3(RYR1):c.12013-9G>C
|
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NM_000540.3(RYR1):c.12013G>T (p.Asp4005Tyr)
|
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|
NM_000540.3(RYR1):c.1201C>A (p.Arg401Ser)
|
rs193922764
|
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NM_000540.3(RYR1):c.1201C>G (p.Arg401Gly)
|
rs193922764
|
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NM_000540.3(RYR1):c.12022C>T (p.Gln4008Ter)
|
rs2145784292
|
|
NM_000540.3(RYR1):c.12024G>C (p.Gln4008His)
|
rs1972429144
|
|
NM_000540.3(RYR1):c.1202G>A (p.Arg401His)
|
rs193922766
|
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NM_000540.3(RYR1):c.1202G>T (p.Arg401Leu)
|
rs193922766
|
|
NM_000540.3(RYR1):c.12033G>A (p.Leu4011=)
|
rs1972429720
|
|
NM_000540.3(RYR1):c.12035T>C (p.Leu4012Pro)
|
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|
NM_000540.3(RYR1):c.12036G>A (p.Leu4012=)
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NM_000540.3(RYR1):c.12037_12048del (p.Lys4013_Leu4016del)
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NM_000540.3(RYR1):c.12043C>G (p.Leu4015Val)
|
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NM_000540.3(RYR1):c.12047T>C (p.Leu4016Pro)
|
rs1972430121
|
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NM_000540.3(RYR1):c.12054G>A (p.Leu4018=)
|
|
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NM_000540.3(RYR1):c.1205T>C (p.Met402Thr)
|
rs118192117
|
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NM_000540.3(RYR1):c.12061G>A (p.Asp4021Asn)
|
rs2145784423
|
|
NM_000540.3(RYR1):c.12063C>T (p.Asp4021=)
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NM_000540.3(RYR1):c.12063_12064dup (p.Met4022fs)
|
rs1419938249
|
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NM_000540.3(RYR1):c.12065T>C (p.Met4022Thr)
|
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NM_000540.3(RYR1):c.12065T>G (p.Met4022Arg)
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NM_000540.3(RYR1):c.12068T>C (p.Val4023Ala)
|
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NM_000540.3(RYR1):c.12070G>A (p.Val4024Met)
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NM_000540.3(RYR1):c.12072G>A (p.Val4024=)
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NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu)
|
rs794728696
|
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NM_000540.3(RYR1):c.12084G>T (p.Ser4028=)
|
rs571477269
|
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NM_000540.3(RYR1):c.12094+10C>A
|
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NM_000540.3(RYR1):c.12094+15G>A
|
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NM_000540.3(RYR1):c.12094+2T>C
|
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NM_000540.3(RYR1):c.12094+4A>G
|
rs1972431144
|
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NM_000540.3(RYR1):c.12094+95C>G
|
rs117551910
|
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NM_000540.3(RYR1):c.12095-13G>A
|
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NM_000540.3(RYR1):c.12095-16C>G
|
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NM_000540.3(RYR1):c.12095-17C>T
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NM_000540.3(RYR1):c.12095-19G>A
|
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NM_000540.3(RYR1):c.12095-2A>G
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NM_000540.3(RYR1):c.12095-6C>A
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NM_000540.3(RYR1):c.12095-6C>G
|
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NM_000540.3(RYR1):c.1209C>G (p.Ile403Met)
|
rs118192116
|
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NM_000540.3(RYR1):c.120C>T (p.Gly40=)
|
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NM_000540.3(RYR1):c.12110del (p.Gly4037fs)
|
rs1555795308
|
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NM_000540.3(RYR1):c.12111C>T (p.Gly4037=)
|
rs1972516716
|
|
NM_000540.3(RYR1):c.12113dup (p.Met4038fs)
|
rs1568562752
|
|
NM_000540.3(RYR1):c.12115A>T (p.Ile4039Phe)
|
rs2145790232
|
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NM_000540.3(RYR1):c.12117C>T (p.Ile4039=)
|
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NM_000540.3(RYR1):c.12118G>A (p.Ala4040Thr)
|
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|
NM_000540.3(RYR1):c.1211A>G (p.His404Arg)
|
rs561546643
|
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NM_000540.3(RYR1):c.12120C>T (p.Ala4040=)
|
rs759996435
|
|
NM_000540.3(RYR1):c.12122G>A (p.Arg4041Gln)
|
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|
NM_000540.3(RYR1):c.12127A>G (p.Met4043Val)
|
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|
NM_000540.3(RYR1):c.1212C>T (p.His404=)
|
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|
NM_000540.3(RYR1):c.12139C>T (p.Leu4047Phe)
|
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|
NM_000540.3(RYR1):c.12142G>A (p.Val4048Met)
|
|
|
NM_000540.3(RYR1):c.12142G>C (p.Val4048Leu)
|
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NM_000540.3(RYR1):c.12142G>T (p.Val4048Leu)
|
rs368835421
|
|
NM_000540.3(RYR1):c.12144G>A (p.Val4048=)
|
|
|
NM_000540.3(RYR1):c.12145G>C (p.Glu4049Gln)
|
|
|
NM_000540.3(RYR1):c.12145_12146delinsTT (p.Glu4049Leu)
|
rs2145790333
|
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NM_000540.3(RYR1):c.12147A>C (p.Glu4049Asp)
|
|
|
NM_000540.3(RYR1):c.12149C>A (p.Ser4050Tyr)
|
rs193922844
|
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NM_000540.3(RYR1):c.12152C>T (p.Ser4051Leu)
|
rs1972518441
|
|
NM_000540.3(RYR1):c.12153A>C (p.Ser4051=)
|
|
|
NM_000540.3(RYR1):c.12156C>T (p.Ser4052=)
|
rs2145790376
|
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NM_000540.3(RYR1):c.12167T>A (p.Met4056Lys)
|
rs2145790453
|
|
NM_000540.3(RYR1):c.12173T>A (p.Leu4058His)
|
|
|
NM_000540.3(RYR1):c.12174C>G (p.Leu4058=)
|
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|
NM_000540.3(RYR1):c.12177G>A (p.Lys4059=)
|
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NM_000540.3(RYR1):c.1217C>T (p.Thr406Ile)
|
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|
NM_000540.3(RYR1):c.12186C>T (p.Asp4062=)
|
|
|
NM_000540.3(RYR1):c.12188T>C (p.Met4063Thr)
|
rs777285788
|
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NM_000540.3(RYR1):c.12189G>A (p.Met4063Ile)
|
|
|
NM_000540.3(RYR1):c.1218del (p.Asn407fs)
|
rs1568443969
|
|
NM_000540.3(RYR1):c.12191T>A (p.Phe4064Tyr)
|
|
|
NM_000540.3(RYR1):c.12192C>T (p.Phe4064=)
|
rs1601003822
|
|
NM_000540.3(RYR1):c.1219A>G (p.Asn407Asp)
|
|
|
NM_000540.3(RYR1):c.12218_12219delinsTA (p.Ser4073Leu)
|
rs1568562966
|
|
NM_000540.3(RYR1):c.12225C>A (p.Ala4075=)
|
rs2145790639
|
|
NM_000540.3(RYR1):c.12231G>A (p.Gln4077=)
|
rs2145790662
|
|
NM_000540.3(RYR1):c.12238G>A (p.Val4080Ile)
|
rs1293266518
|
|
NM_000540.3(RYR1):c.12241A>T (p.Thr4081Ser)
|
rs193922845
|
|
NM_000540.3(RYR1):c.12241_12242del (p.Thr4081fs)
|
rs755659741
|
|
NM_000540.3(RYR1):c.12245A>C (p.Asp4082Ala)
|
rs1972523098
|
|
NM_000540.3(RYR1):c.12259A>C (p.Ile4087Leu)
|
rs2145790843
|
|
NM_000540.3(RYR1):c.12275T>C (p.Phe4092Ser)
|
rs2145790895
|
|
NM_000540.3(RYR1):c.12277del (p.Gln4093fs)
|
|
|
NM_000540.3(RYR1):c.1227A>G (p.Leu409=)
|
|
|
NM_000540.3(RYR1):c.12282+12A>G
|
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|
NM_000540.3(RYR1):c.12282+14A>G
|
|
|
NM_000540.3(RYR1):c.12282+16C>T
|
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|
NM_000540.3(RYR1):c.12282+17G>C
|
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|
NM_000540.3(RYR1):c.12282+24_12282+40del
|
|
|
NM_000540.3(RYR1):c.12282+3G>A
|
rs1422270943
|
|
NM_000540.3(RYR1):c.12282+9G>A
|
rs2145790931
|
|
NM_000540.3(RYR1):c.12283-10C>G
|
|
|
NM_000540.3(RYR1):c.12283-11C>T
|
rs2145830441
|
|
NM_000540.3(RYR1):c.12283-4C>T
|
rs2145830478
|
|
NM_000540.3(RYR1):c.12283-56AG[2]
|
rs200718174
|
|
NM_000540.3(RYR1):c.12283-56_12283-52del
|
rs1364388423
|
|
NM_000540.3(RYR1):c.12283-56del
|
rs550360145
|
|
NM_000540.3(RYR1):c.12283-56dup
|
rs550360145
|
|
NM_000540.3(RYR1):c.12283-7C>A
|
|
|
NM_000540.3(RYR1):c.12283-8G>A
|
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|
NM_000540.3(RYR1):c.12287T>C (p.Met4096Thr)
|
rs1568575499
|
|
NM_000540.3(RYR1):c.12290A>C (p.Asp4097Ala)
|
rs1392049101
|
|
NM_000540.3(RYR1):c.12294C>T (p.Ser4098=)
|
rs1239116789
|
|
NM_000540.3(RYR1):c.12295_12301del (p.Gln4099fs)
|
|
|
NM_000540.3(RYR1):c.12309C>T (p.Ser4103=)
|
|
|
NM_000540.3(RYR1):c.12310G>C (p.Gly4104Arg)
|
rs769120898
|
|
NM_000540.3(RYR1):c.12314C>T (p.Pro4105Leu)
|
|
|
NM_000540.3(RYR1):c.12315A>G (p.Pro4105=)
|
|
|
NM_000540.3(RYR1):c.12315_12328del (p.Glu4106fs)
|
rs886042171
|
|
NM_000540.3(RYR1):c.12316G>C (p.Glu4106Gln)
|
rs1013258657
|
|
NM_000540.3(RYR1):c.12319del (p.Ile4107fs)
|
rs754572007
|
|
NM_000540.3(RYR1):c.12320T>A (p.Ile4107Asn)
|
|
|
NM_000540.3(RYR1):c.12330G>C (p.Leu4110=)
|
|
|
NM_000540.3(RYR1):c.12332T>G (p.Leu4111Arg)
|
|
|
NM_000540.3(RYR1):c.12333T>G (p.Leu4111=)
|
|
|
NM_000540.3(RYR1):c.12336G>A (p.Ser4112=)
|
|
|
NM_000540.3(RYR1):c.1233C>T (p.Asn411=)
|
rs1343699432
|
|
NM_000540.3(RYR1):c.12348G>C (p.Ala4116=)
|
|
|
NM_000540.3(RYR1):c.12349_12350delinsAT (p.Asp4117Ile)
|
rs1568575693
|
|
NM_000540.3(RYR1):c.12354G>A (p.Glu4118=)
|
rs369455775
|
|
NM_000540.3(RYR1):c.12357C>T (p.Asn4119=)
|
|
|
NM_000540.3(RYR1):c.12358G>A (p.Glu4120Lys)
|
|
|
NM_000540.3(RYR1):c.12366C>T (p.Ile4122=)
|
|
|
NM_000540.3(RYR1):c.1236G>A (p.Gln412=)
|
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|
NM_000540.3(RYR1):c.12371_12372delinsAA (p.Cys4124Ter)
|
|
|
NM_000540.3(RYR1):c.12373G>A (p.Glu4125Lys)
|
rs1973119741
|
|
NM_000540.3(RYR1):c.12377A>G (p.Glu4126Gly)
|
|
|
NM_000540.3(RYR1):c.12381C>T (p.Phe4127=)
|
|
|
NM_000540.3(RYR1):c.12382G>A (p.Ala4128Thr)
|
|
|
NM_000540.3(RYR1):c.12383C>T (p.Ala4128Val)
|
rs2145830877
|
|
NM_000540.3(RYR1):c.12390C>A (p.Arg4130=)
|
rs1973120657
|
|
NM_000540.3(RYR1):c.12394C>A (p.Gln4132Lys)
|
rs1317236359
|
|
NM_000540.3(RYR1):c.12394C>G (p.Gln4132Glu)
|
rs1317236359
|
|
NM_000540.3(RYR1):c.12395A>G (p.Gln4132Arg)
|
|
|
NM_000540.3(RYR1):c.12400C>G (p.Pro4134Ala)
|
|
|
NM_000540.3(RYR1):c.12406C>T (p.Arg4136Cys)
|
|
|
NM_000540.3(RYR1):c.12408C>T (p.Arg4136=)
|
rs957548152
|
|
NM_000540.3(RYR1):c.12409G>A (p.Asp4137Asn)
|
|
|
NM_000540.3(RYR1):c.12413T>C (p.Ile4138Thr)
|
rs193922850
|
|
NM_000540.3(RYR1):c.12414C>T (p.Ile4138=)
|
|
|
NM_000540.3(RYR1):c.12415G>A (p.Gly4139Ser)
|
rs1489505433
|
|
NM_000540.3(RYR1):c.12416G>A (p.Gly4139Asp)
|
rs1973122520
|
|
NM_000540.3(RYR1):c.12423C>T (p.Asn4141=)
|
|
|
NM_000540.3(RYR1):c.12433C>G (p.Leu4145Val)
|
|
|
NM_000540.3(RYR1):c.1244+15C>T
|
|
|
NM_000540.3(RYR1):c.1244+260_1244+266del
|
rs66571762
|
|
NM_000540.3(RYR1):c.1244+263_1244+266dup
|
rs66571762
|
|
NM_000540.3(RYR1):c.1244+264_1244+266dup
|
rs66571762
|
|
NM_000540.3(RYR1):c.1244+265_1244+266dup
|
rs66571762
|
|
NM_000540.3(RYR1):c.1244+266del
|
rs66571762
|
|
NM_000540.3(RYR1):c.1244+266dup
|
rs66571762
|
|
NM_000540.3(RYR1):c.1244+3G>A
|
|
|
NM_000540.3(RYR1):c.1244+6del
|
|
|
NM_000540.3(RYR1):c.1244+8A>G
|
|
|
NM_000540.3(RYR1):c.1244+8A>T
|
|
|
NM_000540.3(RYR1):c.12443A>C (p.Asn4148Thr)
|
rs1213878810
|
|
NM_000540.3(RYR1):c.12444C>A (p.Asn4148Lys)
|
|
|
NM_000540.3(RYR1):c.12444C>T (p.Asn4148=)
|
|
|
NM_000540.3(RYR1):c.12449C>T (p.Ser4150Leu)
|
rs143843083
|
|
NM_000540.3(RYR1):c.1245-14C>T
|
rs1423726320
|
|
NM_000540.3(RYR1):c.1245-16T>C
|
|
|
NM_000540.3(RYR1):c.1245-19A>G
|
|
|
NM_000540.3(RYR1):c.1245-20C>T
|
|
|
NM_000540.3(RYR1):c.1245-6C>G
|
|
|
NM_000540.3(RYR1):c.1245-8C>T
|
rs2145379993
|
|
NM_000540.3(RYR1):c.12450G>A (p.Ser4150=)
|
|
|
NM_000540.3(RYR1):c.12455A>G (p.His4152Arg)
|
|
|
NM_000540.3(RYR1):c.12457G>A (p.Val4153Met)
|
rs890526256
|
|
NM_000540.3(RYR1):c.12459G>A (p.Val4153=)
|
|
|
NM_000540.3(RYR1):c.12460C>T (p.Pro4154Ser)
|
rs2145831197
|
|
NM_000540.3(RYR1):c.12462G>A (p.Pro4154=)
|
rs752478710
|
|
NM_000540.3(RYR1):c.12462G>T (p.Pro4154=)
|
|
|
NM_000540.3(RYR1):c.12463C>G (p.His4155Asp)
|
|
|
NM_000540.3(RYR1):c.12464A>T (p.His4155Leu)
|
|
|
NM_000540.3(RYR1):c.12468C>T (p.Asp4156=)
|
rs751313724
|
|
NM_000540.3(RYR1):c.12471T>C (p.Pro4157=)
|
|
|
NM_000540.3(RYR1):c.12473G>A (p.Arg4158His)
|
|
|
NM_000540.3(RYR1):c.12474C>T (p.Arg4158=)
|
|
|
NM_000540.3(RYR1):c.12486C>T (p.Phe4162=)
|
|
|
NM_000540.3(RYR1):c.12487del (p.Leu4163fs)
|
rs748048642
|
|
NM_000540.3(RYR1):c.12489G>A (p.Leu4163=)
|
|
|
NM_000540.3(RYR1):c.12494T>G (p.Leu4165Arg)
|
rs1555798592
|
|
NM_000540.3(RYR1):c.12495_12496insT (p.Ala4166fs)
|
rs1599625856
|
|
NM_000540.3(RYR1):c.12499G>A (p.Glu4167Lys)
|
|
|
NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter)
|
rs772494345
|
|
NM_000540.3(RYR1):c.124G>A (p.Gly42Ser)
|
|
|
NM_000540.3(RYR1):c.124G>C (p.Gly42Arg)
|
rs759417601
|
|
NM_000540.3(RYR1):c.12501G>A (p.Glu4167=)
|
rs1599625898
|
|
NM_000540.3(RYR1):c.12503_12504delinsTT (p.Ser4168Ile)
|
rs1973128519
|
|
NM_000540.3(RYR1):c.12504C>T (p.Ser4168=)
|
rs768643813
|
|
NM_000540.3(RYR1):c.12521G>C (p.Arg4174Pro)
|
rs1568576113
|
|
NM_000540.3(RYR1):c.12523C>T (p.Pro4175Ser)
|
rs776736001
|
|
NM_000540.3(RYR1):c.12525C>T (p.Pro4175=)
|
|
|
NM_000540.3(RYR1):c.12526_12527insGCCT (p.Tyr4176fs)
|
rs2145831520
|
|
NM_000540.3(RYR1):c.12527A>T (p.Tyr4176Phe)
|
|
|
NM_000540.3(RYR1):c.12531_12557dup (p.Ser4186_Arg4187insGlyArgIleGluIleMetGlyAlaSer)
|
|
|
NM_000540.3(RYR1):c.12532G>A (p.Gly4178Ser)
|
rs1057518885
|
|
NM_000540.3(RYR1):c.12533G>T (p.Gly4178Val)
|
rs1568576165
|
|
NM_000540.3(RYR1):c.12535C>T (p.Arg4179Cys)
|
rs2145831560
|
|
NM_000540.3(RYR1):c.12537C>T (p.Arg4179=)
|
|
|
NM_000540.3(RYR1):c.12540C>T (p.Ile4180=)
|
|
|
NM_000540.3(RYR1):c.12544_12570del (p.Ile4182_Glu4190del)
|
rs1238215145
|
|
NM_000540.3(RYR1):c.12550G>T (p.Gly4184Cys)
|
rs1973131361
|
|
NM_000540.3(RYR1):c.12551G>C (p.Gly4184Ala)
|
rs1555798622
|
|
NM_000540.3(RYR1):c.12554C>A (p.Ala4185Glu)
|
|
|
NM_000540.3(RYR1):c.12555G>A (p.Ala4185=)
|
rs1442355076
|
|
NM_000540.3(RYR1):c.12555G>C (p.Ala4185=)
|
|
|
NM_000540.3(RYR1):c.12556T>C (p.Ser4186Pro)
|
|
|
NM_000540.3(RYR1):c.12559C>G (p.Arg4187Gly)
|
|
|
NM_000540.3(RYR1):c.12562C>T (p.Arg4188Cys)
|
rs1379375429
|
|
NM_000540.3(RYR1):c.12563G>A (p.Arg4188His)
|
|
|
NM_000540.3(RYR1):c.12563G>T (p.Arg4188Leu)
|
rs749890987
|
|
NM_000540.3(RYR1):c.12567C>T (p.Ile4189=)
|
|
|
NM_000540.3(RYR1):c.12567del (p.Ile4189fs)
|
rs1973133322
|
|
NM_000540.3(RYR1):c.12568_12576del (p.Glu4190_Ile4192del)
|
rs1176364208
|
|
NM_000540.3(RYR1):c.12571C>A (p.Arg4191Ser)
|
|
|
NM_000540.3(RYR1):c.12572G>C (p.Arg4191Pro)
|
rs765730833
|
|
NM_000540.3(RYR1):c.12573C>T (p.Arg4191=)
|
|
|
NM_000540.3(RYR1):c.12575T>C (p.Ile4192Thr)
|
rs1555798659
|
|
NM_000540.3(RYR1):c.12578A>T (p.Tyr4193Phe)
|
rs1973134094
|
|
NM_000540.3(RYR1):c.12579C>T (p.Tyr4193=)
|
rs1568576374
|
|
NM_000540.3(RYR1):c.12580T>C (p.Phe4194Leu)
|
rs1568576386
|
|
NM_000540.3(RYR1):c.12582C>G (p.Phe4194Leu)
|
rs753263342
|
|
NM_000540.3(RYR1):c.12582C>T (p.Phe4194=)
|
|
|
NM_000540.3(RYR1):c.12583G>A (p.Glu4195Lys)
|
|
|
NM_000540.3(RYR1):c.12585G>A (p.Glu4195=)
|
|
|
NM_000540.3(RYR1):c.12585G>T (p.Glu4195Asp)
|
rs982601268
|
|
NM_000540.3(RYR1):c.12587T>G (p.Ile4196Ser)
|
|
|
NM_000540.3(RYR1):c.12590_12591del (p.Ile4196_Ser4197insTer)
|
|
|
NM_000540.3(RYR1):c.12591A>G (p.Ser4197=)
|
|
|
NM_000540.3(RYR1):c.12599A>G (p.Asn4200Ser)
|
rs199660276
|
|
NM_000540.3(RYR1):c.125G>A (p.Gly42Asp)
|
rs1972639264
|
|
NM_000540.3(RYR1):c.12601C>T (p.Arg4201Cys)
|
rs1568576431
|
|
NM_000540.3(RYR1):c.12605C>T (p.Ala4202Val)
|
|
|
NM_000540.3(RYR1):c.12607C>T (p.Gln4203Ter)
|
|
|
NM_000540.3(RYR1):c.12612G>A (p.Trp4204Ter)
|
rs794727982
|
|
NM_000540.3(RYR1):c.12613G>A (p.Glu4205Lys)
|
rs1361451153
|
|
NM_000540.3(RYR1):c.12613G>T (p.Glu4205Ter)
|
rs1361451153
|
|
NM_000540.3(RYR1):c.12619C>A (p.Pro4207Thr)
|
rs886054403
|
|
NM_000540.3(RYR1):c.12622C>G (p.Gln4208Glu)
|
|
|
NM_000540.3(RYR1):c.12624+11C>G
|
|
|
NM_000540.3(RYR1):c.12624+11C>T
|
|
|
NM_000540.3(RYR1):c.12624+12C>A
|
|
|
NM_000540.3(RYR1):c.12624+12C>T
|
|
|
NM_000540.3(RYR1):c.12624+12CG[3]
|
rs1263211254
|
|
NM_000540.3(RYR1):c.12624+15G>A
|
|
|
NM_000540.3(RYR1):c.12624+16C>T
|
|
|
NM_000540.3(RYR1):c.12624+17G>A
|
|
|
NM_000540.3(RYR1):c.12624+19G>A
|
|
|
NM_000540.3(RYR1):c.12624+1G>A
|
|
|
NM_000540.3(RYR1):c.12624+2dup
|
|
|
NM_000540.3(RYR1):c.12624+61C>G
|
rs138998721
|
|
NM_000540.3(RYR1):c.12624+8A>G
|
|
|
NM_000540.3(RYR1):c.12625-12C>G
|
|
|
NM_000540.3(RYR1):c.12625-13C>A
|
|
|
NM_000540.3(RYR1):c.12625-13C>T
|
|
|
NM_000540.3(RYR1):c.12625-15C>T
|
|
|
NM_000540.3(RYR1):c.12625-16C>T
|
|
|
NM_000540.3(RYR1):c.12625-1G>T
|
rs794727984
|
|
NM_000540.3(RYR1):c.12625-20T>C
|
rs1555799588
|
|
NM_000540.3(RYR1):c.12625-7G>A
|
|
|
NM_000540.3(RYR1):c.12628_12630del (p.Lys4210del)
|
|
|
NM_000540.3(RYR1):c.1262G>A (p.Ser421Asn)
|
rs1600667607
|
|
NM_000540.3(RYR1):c.12635C>G (p.Ser4212Cys)
|
rs1973322467
|
|
NM_000540.3(RYR1):c.1263C>A (p.Ser421Arg)
|
|
|
NM_000540.3(RYR1):c.1263C>T (p.Ser421=)
|
|
|
NM_000540.3(RYR1):c.12640C>A (p.Arg4214Ser)
|
rs1973322817
|
|
NM_000540.3(RYR1):c.12640_12648del (p.Arg4214_Phe4216del)
|
rs118192165
|
|
NM_000540.3(RYR1):c.12641G>A (p.Arg4214His)
|
|
|
NM_000540.3(RYR1):c.12642C>G (p.Arg4214=)
|
rs760363531
|
|
NM_000540.3(RYR1):c.12652T>C (p.Phe4218Leu)
|
rs1568581720
|
|
NM_000540.3(RYR1):c.12654C>T (p.Phe4218=)
|
|
|
NM_000540.3(RYR1):c.12657C>T (p.Asp4219=)
|
rs770604994
|
|
NM_000540.3(RYR1):c.12659_12670del (p.Val4220_Glu4223del)
|
rs2145843128
|
|
NM_000540.3(RYR1):c.12660G>T (p.Val4220=)
|
|
|
NM_000540.3(RYR1):c.12666C>T (p.Asn4222=)
|
|
|
NM_000540.3(RYR1):c.12667G>A (p.Glu4223Lys)
|
rs752060440
|
|
NM_000540.3(RYR1):c.12672C>A (p.Gly4224=)
|
|
|
NM_000540.3(RYR1):c.1267_1276dup (p.Gly426fs)
|
rs1967149532
|
|
NM_000540.3(RYR1):c.12683A>C (p.Glu4228Ala)
|
|
|
NM_000540.3(RYR1):c.12684G>A (p.Glu4228=)
|
|
|
NM_000540.3(RYR1):c.12685_12704dup (p.Ser4235delinsArgArgTrpSerSerSerTer)
|
|
|
NM_000540.3(RYR1):c.12689T>G (p.Met4230Arg)
|
rs1568581848
|
|
NM_000540.3(RYR1):c.12694C>T (p.Leu4232Phe)
|
|
|
NM_000540.3(RYR1):c.12695T>C (p.Leu4232Pro)
|
|
|
NM_000540.3(RYR1):c.12700G>A (p.Val4234Met)
|
|
|
NM_000540.3(RYR1):c.12700G>C (p.Val4234Leu)
|
rs193922852
|
|
NM_000540.3(RYR1):c.12700G>T (p.Val4234Leu)
|
rs193922852
|
|
NM_000540.3(RYR1):c.12708C>T (p.Phe4236=)
|
|
|
NM_000540.3(RYR1):c.1271C>T (p.Pro424Leu)
|
|
|
NM_000540.3(RYR1):c.12721A>G (p.Ile4241Val)
|
|
|
NM_000540.3(RYR1):c.12726C>T (p.Phe4242=)
|
rs1599634067
|
|
NM_000540.3(RYR1):c.12727G>A (p.Glu4243Lys)
|
rs1555799628
|
|
NM_000540.3(RYR1):c.12729G>C (p.Glu4243Asp)
|
rs1185644472
|
|
NM_000540.3(RYR1):c.1272A>G (p.Pro424=)
|
|
|
NM_000540.3(RYR1):c.12739_12750del (p.Ala4247_Ile4250del)
|
rs2145843330
|
|
NM_000540.3(RYR1):c.12741C>A (p.Ala4247=)
|
rs80039127
|
|
NM_000540.3(RYR1):c.12742G>A (p.Ala4248Thr)
|
|
|
NM_000540.3(RYR1):c.12743C>T (p.Ala4248Val)
|
rs1426362155
|
|
NM_000540.3(RYR1):c.12744G>T (p.Ala4248=)
|
|
|
NM_000540.3(RYR1):c.1274G>A (p.Arg425Gln)
|
|
|
NM_000540.3(RYR1):c.1274G>C (p.Arg425Pro)
|
|
|
NM_000540.3(RYR1):c.12750C>T (p.Ile4250=)
|
rs113553675
|
|
NM_000540.3(RYR1):c.12752C>G (p.Ser4251Trp)
|
rs988659631
|
|
NM_000540.3(RYR1):c.12752C>T (p.Ser4251Leu)
|
|
|
NM_000540.3(RYR1):c.12754G>C (p.Glu4252Gln)
|
rs1973328675
|
|
NM_000540.3(RYR1):c.12759del (p.Glu4254fs)
|
|
|
NM_000540.3(RYR1):c.1275G>C (p.Arg425=)
|
|
|
NM_000540.3(RYR1):c.12760G>A (p.Glu4254Lys)
|
|
|
NM_000540.3(RYR1):c.12763G>A (p.Gly4255Ser)
|
rs1973329419
|
|
NM_000540.3(RYR1):c.12765C>T (p.Gly4255=)
|
|
|
NM_000540.3(RYR1):c.12766G>A (p.Glu4256Lys)
|
rs770517037
|
|
NM_000540.3(RYR1):c.12766G>T (p.Glu4256Ter)
|
rs770517037
|
|
NM_000540.3(RYR1):c.12769_12778del (p.Pro4257fs)
|
rs2145843523
|
|
NM_000540.3(RYR1):c.12770C>T (p.Pro4257Leu)
|
rs1236523624
|
|
NM_000540.3(RYR1):c.12776C>T (p.Thr4259Ile)
|
rs759030560
|
|
NM_000540.3(RYR1):c.12777C>T (p.Thr4259=)
|
|
|
NM_000540.3(RYR1):c.12779ACGAGG[1] (p.4260DE[1])
|
rs746833347
|
|
NM_000540.3(RYR1):c.12779ACGAGG[3] (p.4260DE[3])
|
rs746833347
|
|
NM_000540.3(RYR1):c.12780C>T (p.Asp4260=)
|
|
|
NM_000540.3(RYR1):c.12783G>A (p.Glu4261=)
|
|
|
NM_000540.3(RYR1):c.12783G>C (p.Glu4261Asp)
|
|
|
NM_000540.3(RYR1):c.12787G>A (p.Glu4263Lys)
|
rs1471120810
|
|
NM_000540.3(RYR1):c.12788A>T (p.Glu4263Val)
|
|
|
NM_000540.3(RYR1):c.12788_12793del (p.Glu4263_Gly4264del)
|
|
|
NM_000540.3(RYR1):c.12791G>A (p.Gly4264Asp)
|
rs949615251
|
|
NM_000540.3(RYR1):c.12791GCGCGG[3] (p.4264GA[3])
|
rs776979677
|
|
NM_000540.3(RYR1):c.12792C>T (p.Gly4264=)
|
rs2145843696
|
|
NM_000540.3(RYR1):c.12795G>A (p.Ala4265=)
|
|
|
NM_000540.3(RYR1):c.12797_12817del (p.Gly4266_Ala4272del)
|
rs928648668
|
|
NM_000540.3(RYR1):c.12797_12826dup (p.Gly4266_Ala4275dup)
|
rs1568582159
|
|
NM_000540.3(RYR1):c.12799G>A (p.Ala4267Thr)
|
|
|
NM_000540.3(RYR1):c.12803_12817del (p.Ala4268_Ala4272del)
|
rs938670458
|
|
NM_000540.3(RYR1):c.12803_12817dup (p.Ala4272_Glu4273insAlaGluAlaGlyAla)
|
|
|
NM_000540.3(RYR1):c.12805G>A (p.Glu4269Lys)
|
rs1599634443
|
|
NM_000540.3(RYR1):c.12806A>G (p.Glu4269Gly)
|
|
|
NM_000540.3(RYR1):c.12808G>A (p.Ala4270Thr)
|
rs1180037012
|
|
NM_000540.3(RYR1):c.1280C>T (p.Ser427Leu)
|
rs118192118
|
|
NM_000540.3(RYR1):c.1280_1281dup (p.Gly428fs)
|
rs193922851
|
|
NM_000540.3(RYR1):c.12816G>C (p.Ala4272=)
|
|
|
NM_000540.3(RYR1):c.12818_12838del (p.Glu4273_Ala4279del)
|
rs1973335544
|
|
NM_000540.3(RYR1):c.12819_12830del (p.Glu4276_Ala4279del)
|
|
|
NM_000540.3(RYR1):c.12820G>A (p.Gly4274Ser)
|
|
|
NM_000540.3(RYR1):c.12821G>A (p.Gly4274Asp)
|
|
|
NM_000540.3(RYR1):c.12822C>T (p.Gly4274=)
|
rs1568582347
|
|
NM_000540.3(RYR1):c.12823_12824delinsAT (p.Ala4275Met)
|
rs2145843965
|
|
NM_000540.3(RYR1):c.12827_12838dup (p.Ala4279_Ala4280insGluGluGlyAla)
|
|
|
NM_000540.3(RYR1):c.12829G>A (p.Glu4277Lys)
|
|
|
NM_000540.3(RYR1):c.12829G>T (p.Glu4277Ter)
|
rs2145843996
|
|
NM_000540.3(RYR1):c.12830A>C (p.Glu4277Ala)
|
|
|
NM_000540.3(RYR1):c.12834C>A (p.Gly4278=)
|
|
|
NM_000540.3(RYR1):c.12835_12852dup (p.Ala4279_Gly4284dup)
|
rs1159068582
|
|
NM_000540.3(RYR1):c.12836C>T (p.Ala4279Val)
|
|
|
NM_000540.3(RYR1):c.12840G>A (p.Ala4280=)
|
|
|
NM_000540.3(RYR1):c.12842G>C (p.Gly4281Ala)
|
rs754173025
|
|
NM_000540.3(RYR1):c.12842_12859dup (p.Gly4281_Ala4286dup)
|
rs1339923680
|
|
NM_000540.3(RYR1):c.12843G>C (p.Gly4281=)
|
rs1390144594
|
|
NM_000540.3(RYR1):c.12846C>T (p.Leu4282=)
|
rs1184700540
|
|
NM_000540.3(RYR1):c.12848A>T (p.Glu4283Val)
|
rs193922853
|
|
NM_000540.3(RYR1):c.12852CACGGCGGC[1] (p.4285TAA[1])
|
rs398123469
|
|
NM_000540.3(RYR1):c.12852CACGGCGGC[4] (p.4285TAA[4])
|
rs398123469
|
|
NM_000540.3(RYR1):c.12853_12864dup (p.Thr4285_Thr4288dup)
|
rs1599634685
|
|
NM_000540.3(RYR1):c.12854C>T (p.Thr4285Met)
|
rs2145844223
|
|
NM_000540.3(RYR1):c.12855G>A (p.Thr4285=)
|
|
|
NM_000540.3(RYR1):c.12857C>A (p.Ala4286Glu)
|
rs1355994729
|
|
NM_000540.3(RYR1):c.12857C>G (p.Ala4286Gly)
|
|
|
NM_000540.3(RYR1):c.12858G>C (p.Ala4286=)
|
rs1599634706
|
|
NM_000540.3(RYR1):c.12860C>G (p.Ala4287Gly)
|
rs1973341591
|
|
NM_000540.3(RYR1):c.12860_12869delinsT (p.Ala4287_Ala4290delinsVal)
|
rs796065337
|
|
NM_000540.3(RYR1):c.12863CGG[2] (p.Ala4290_Ala4291del)
|
rs1228854800
|
|
NM_000540.3(RYR1):c.12863CGG[5] (p.Ala4291_Gly4292insAla)
|
|
|
NM_000540.3(RYR1):c.12864G>A (p.Thr4288=)
|
rs1973342445
|
|
NM_000540.3(RYR1):c.12867G>A (p.Ala4289=)
|
rs1973342569
|
|
NM_000540.3(RYR1):c.1286dup (p.Pro430fs)
|
|
|
NM_000540.3(RYR1):c.12873G>A (p.Ala4291=)
|
|
|
NM_000540.3(RYR1):c.12874_12879dup (p.Gly4292_Ala4293dup)
|
rs2145844350
|
|
NM_000540.3(RYR1):c.12876G>C (p.Gly4292=)
|
rs1973343918
|
|
NM_000540.3(RYR1):c.12877del (p.Ala4293fs)
|
|
|
NM_000540.3(RYR1):c.12878C>A (p.Ala4293Glu)
|
rs1223090052
|
|
NM_000540.3(RYR1):c.12885G>A (p.Ala4295=)
|
|
|
NM_000540.3(RYR1):c.12887G>C (p.Arg4296Pro)
|
|
|
NM_000540.3(RYR1):c.12888G>A (p.Arg4296=)
|
rs571850239
|
|
NM_000540.3(RYR1):c.12889G>C (p.Val4297Leu)
|
rs1973345393
|
|
NM_000540.3(RYR1):c.12890_12910del (p.Val4297_Arg4303del)
|
|
|
NM_000540.3(RYR1):c.12891T>G (p.Val4297=)
|
rs2145844519
|
|
NM_000540.3(RYR1):c.12892G>T (p.Val4298Leu)
|
|
|
NM_000540.3(RYR1):c.12897G>A (p.Ala4299=)
|
|
|
NM_000540.3(RYR1):c.12897G>T (p.Ala4299=)
|
rs1211886095
|
|
NM_000540.3(RYR1):c.12899C>T (p.Ala4300Val)
|
|
|
NM_000540.3(RYR1):c.128A>C (p.Asn43Thr)
|
|
|
NM_000540.3(RYR1):c.12901G>A (p.Ala4301Thr)
|
rs1599634913
|
|
NM_000540.3(RYR1):c.12907C>G (p.Arg4303Gly)
|
rs1027792397
|
|
NM_000540.3(RYR1):c.12907C>T (p.Arg4303Trp)
|
rs1027792397
|
|
NM_000540.3(RYR1):c.12909G>C (p.Arg4303=)
|
|
|
NM_000540.3(RYR1):c.1290dup (p.Ala431fs)
|
|
|
NM_000540.3(RYR1):c.12913C>T (p.Leu4305=)
|
|
|
NM_000540.3(RYR1):c.12916C>T (p.Arg4306Ter)
|
|
|
NM_000540.3(RYR1):c.12917G>A (p.Arg4306Gln)
|
rs2145844700
|
|
NM_000540.3(RYR1):c.1291G>A (p.Ala431Thr)
|
rs768357333
|
|
NM_000540.3(RYR1):c.12924C>T (p.Leu4308=)
|
|
|
NM_000540.3(RYR1):c.12926G>T (p.Ser4309Ile)
|
|
|
NM_000540.3(RYR1):c.12926_12929del (p.Ser4309fs)
|
|
|
NM_000540.3(RYR1):c.12931C>A (p.Arg4311Ser)
|
|
|
NM_000540.3(RYR1):c.12933C>T (p.Arg4311=)
|
|
|
NM_000540.3(RYR1):c.12936_12956dup (p.Arg4322_Leu4323insArgValArgArgLeuArgArg)
|
|
|
NM_000540.3(RYR1):c.12937C>T (p.Leu4313=)
|
|
|
NM_000540.3(RYR1):c.12939G>A (p.Leu4313=)
|
|
|
NM_000540.3(RYR1):c.12944G>T (p.Arg4315Leu)
|
rs1013126996
|
|
NM_000540.3(RYR1):c.12947_12958dup (p.Arg4316_Arg4319dup)
|
rs1455190973
|
|
NM_000540.3(RYR1):c.12947_12967dup (p.Arg4322_Leu4323insArgValArgArgLeuArgArg)
|
|
|
NM_000540.3(RYR1):c.12948_12949delinsGT (p.Val4317Leu)
|
|
|
NM_000540.3(RYR1):c.1294G>A (p.Gly432Ser)
|
rs1967153217
|
|
NM_000540.3(RYR1):c.12951GCGGCGGCT[1] (p.4318RRL[1])
|
rs193922846
|
|
NM_000540.3(RYR1):c.12951GCGGCGGCT[3] (p.4318RRL[3])
|
rs193922846
|
|
NM_000540.3(RYR1):c.12952C>G (p.Arg4318Gly)
|
rs1285531553
|
|
NM_000540.3(RYR1):c.12953G>A (p.Arg4318Gln)
|
|
|
NM_000540.3(RYR1):c.12954G>A (p.Arg4318=)
|
rs886054405
|
|
NM_000540.3(RYR1):c.12954_12969dup (p.Thr4324fs)
|
|
|
NM_000540.3(RYR1):c.12955C>T (p.Arg4319Trp)
|
rs1973350586
|
|
NM_000540.3(RYR1):c.12956G>C (p.Arg4319Pro)
|
rs539194350
|
|
NM_000540.3(RYR1):c.12957G>A (p.Arg4319=)
|
rs1599635142
|
|
NM_000540.3(RYR1):c.12961C>T (p.Arg4321Trp)
|
|
|
NM_000540.3(RYR1):c.12969T>C (p.Leu4323=)
|
rs2145844996
|
|
NM_000540.3(RYR1):c.12972G>C (p.Thr4324=)
|
|
|
NM_000540.3(RYR1):c.12976C>T (p.Arg4326Cys)
|
rs2145845063
|
|
NM_000540.3(RYR1):c.12977G>T (p.Arg4326Leu)
|
rs2145845070
|
|
NM_000540.3(RYR1):c.12978del (p.Glu4327fs)
|
rs1568582893
|
|
NM_000540.3(RYR1):c.12981G>C (p.Glu4327Asp)
|
|
|
NM_000540.3(RYR1):c.12983C>G (p.Ala4328Gly)
|
|
|
NM_000540.3(RYR1):c.12984G>A (p.Ala4328=)
|
rs1057522670
|
|
NM_000540.3(RYR1):c.12986C>A (p.Ala4329Asp)
|
rs118192129
|
|
NM_000540.3(RYR1):c.12988A>C (p.Thr4330Pro)
|
|
|
NM_000540.3(RYR1):c.12989C>T (p.Thr4330Ile)
|
|
|
NM_000540.3(RYR1):c.12990C>G (p.Thr4330=)
|
rs184450380
|
|
NM_000540.3(RYR1):c.12990C>T (p.Thr4330=)
|
rs184450380
|
|
NM_000540.3(RYR1):c.12992C>T (p.Ala4331Val)
|
|
|
NM_000540.3(RYR1):c.13005G>C (p.Leu4335=)
|
|
|
NM_000540.3(RYR1):c.1300G>A (p.Ala434Thr)
|
|
|
NM_000540.3(RYR1):c.13011G>A (p.Trp4337Ter)
|
|
|
NM_000540.3(RYR1):c.13012del (p.Ala4338fs)
|
rs2145845243
|
|
NM_000540.3(RYR1):c.13013C>T (p.Ala4338Val)
|
|
|
NM_000540.3(RYR1):c.13013_13032del (p.Ala4338fs)
|
rs193922856
|
|
NM_000540.3(RYR1):c.13020G>A (p.Val4340=)
|
|
|
NM_000540.3(RYR1):c.13022C>G (p.Thr4341Arg)
|
rs752855919
|
|
NM_000540.3(RYR1):c.13023G>A (p.Thr4341=)
|
|
|
NM_000540.3(RYR1):c.13023G>C (p.Thr4341=)
|
|
|
NM_000540.3(RYR1):c.13024C>T (p.Arg4342Cys)
|
|
|
NM_000540.3(RYR1):c.13026C>T (p.Arg4342=)
|
rs2145845353
|
|
NM_000540.3(RYR1):c.13027G>A (p.Ala4343Thr)
|
rs1204041410
|
|
NM_000540.3(RYR1):c.13027G>C (p.Ala4343Pro)
|
|
|
NM_000540.3(RYR1):c.13029T>C (p.Ala4343=)
|
rs1250000043
|
|
NM_000540.3(RYR1):c.1302G>A (p.Ala434=)
|
|
|
NM_000540.3(RYR1):c.13032_13040dup (p.4343AGA[3])
|
rs1036726331
|
|
NM_000540.3(RYR1):c.13033_13067del (p.Ala4345fs)
|
|
|
NM_000540.3(RYR1):c.13033del (p.Ala4345fs)
|
rs2145845399
|
|
NM_000540.3(RYR1):c.13038T>C (p.Ala4346=)
|
rs758223017
|
|
NM_000540.3(RYR1):c.13041_13066del (p.Ala4348fs)
|
|
|
NM_000540.3(RYR1):c.13042G>A (p.Ala4348Thr)
|
rs2145845469
|
|
NM_000540.3(RYR1):c.13044G>A (p.Ala4348=)
|
rs794727985
|
|
NM_000540.3(RYR1):c.13044G>T (p.Ala4348=)
|
rs794727985
|
|
NM_000540.3(RYR1):c.13046G>C (p.Gly4349Ala)
|
rs1568583133
|
|
NM_000540.3(RYR1):c.13046_13048dup (p.Gly4349_Ala4350insGly)
|
|
|
NM_000540.3(RYR1):c.13049CGG[5] (p.Ala4351_Ala4352dup)
|
rs1271736045
|
|
NM_000540.3(RYR1):c.13050G>A (p.Ala4350=)
|
rs2145845557
|
|
NM_000540.3(RYR1):c.13051G>A (p.Ala4351Thr)
|
|
|
NM_000540.3(RYR1):c.13058G>A (p.Gly4353Asp)
|
|
|
NM_000540.3(RYR1):c.13058del (p.Gly4353fs)
|
rs1447188345
|
|
NM_000540.3(RYR1):c.13060G>A (p.Ala4354Thr)
|
rs1214553487
|
|
NM_000540.3(RYR1):c.13062G>T (p.Ala4354=)
|
rs1285864293
|
|
NM_000540.3(RYR1):c.13064T>C (p.Leu4355Pro)
|
rs2145845685
|
|
NM_000540.3(RYR1):c.13065G>A (p.Leu4355=)
|
|
|
NM_000540.3(RYR1):c.13066G>T (p.Gly4356Cys)
|
rs1973360489
|
|
NM_000540.3(RYR1):c.13068_13078del (p.Leu4358fs)
|
rs1973360239
|
|
NM_000540.3(RYR1):c.13071G>C (p.Leu4357=)
|
rs2145845759
|
|
NM_000540.3(RYR1):c.13074C>T (p.Leu4358=)
|
|
|
NM_000540.3(RYR1):c.1307C>G (p.Pro436Arg)
|
rs771433606
|
|
NM_000540.3(RYR1):c.13080C>T (p.Gly4360=)
|
|
|
NM_000540.3(RYR1):c.13083G>A (p.Ser4361=)
|
|
|
NM_000540.3(RYR1):c.13086G>C (p.Leu4362=)
|
|
|
NM_000540.3(RYR1):c.13087T>G (p.Phe4363Val)
|
|
|
NM_000540.3(RYR1):c.13090G>A (p.Gly4364Ser)
|
rs1568583309
|
|
NM_000540.3(RYR1):c.13091G>C (p.Gly4364Ala)
|
rs1973361809
|
|
NM_000540.3(RYR1):c.13093G>T (p.Gly4365Cys)
|
rs1973362089
|
|
NM_000540.3(RYR1):c.13095C>A (p.Gly4365=)
|
|
|
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys)
|
rs193922748
|
|
NM_000540.3(RYR1):c.13104G>A (p.Val4368=)
|
rs1357186643
|
|
NM_000540.3(RYR1):c.13110C>T (p.Gly4370=)
|
|
|
NM_000540.3(RYR1):c.13113C>G (p.Ala4371=)
|
rs1599635569
|
|
NM_000540.3(RYR1):c.1311C>G (p.Ile437Met)
|
rs777029846
|
|
NM_000540.3(RYR1):c.1311C>T (p.Ile437=)
|
rs777029846
|
|
NM_000540.3(RYR1):c.13125G>C (p.Thr4375=)
|
|
|
NM_000540.3(RYR1):c.13128G>A (p.Val4376=)
|
rs886054406
|
|
NM_000540.3(RYR1):c.1312G>C (p.Glu438Gln)
|
rs765668209
|
|
NM_000540.3(RYR1):c.13131C>T (p.Thr4377=)
|
|
|
NM_000540.3(RYR1):c.13132G>A (p.Glu4378Lys)
|
rs1277191700
|
|
NM_000540.3(RYR1):c.13132G>C (p.Glu4378Gln)
|
|
|
NM_000540.3(RYR1):c.13137C>T (p.Leu4379=)
|
|
|
NM_000540.3(RYR1):c.13138C>T (p.Leu4380=)
|
|
|
NM_000540.3(RYR1):c.13145G>A (p.Gly4382Asp)
|
rs1973365556
|
|
NM_000540.3(RYR1):c.1314G>A (p.Glu438=)
|
|
|
NM_000540.3(RYR1):c.13151C>T (p.Pro4384Leu)
|
rs2145846123
|
|
NM_000540.3(RYR1):c.13152C>G (p.Pro4384=)
|
rs769515592
|
|
NM_000540.3(RYR1):c.13152C>T (p.Pro4384=)
|
rs769515592
|
|
NM_000540.3(RYR1):c.13153G>T (p.Asp4385Tyr)
|
rs1227202568
|
|
NM_000540.3(RYR1):c.13161C>T (p.Thr4387=)
|
|
|
NM_000540.3(RYR1):c.13162A>G (p.Ser4388Gly)
|
rs1599635690
|
|
NM_000540.3(RYR1):c.13167C>T (p.Asp4389=)
|
|
|
NM_000540.3(RYR1):c.13168G>A (p.Glu4390Lys)
|
rs1413644550
|
|
NM_000540.3(RYR1):c.13173G>C (p.Val4391=)
|
|
|
NM_000540.3(RYR1):c.13175_13185del (p.His4392fs)
|
|
|
NM_000540.3(RYR1):c.13184A>C (p.Gln4395Pro)
|
rs1973368011
|
|
NM_000540.3(RYR1):c.13191C>T (p.Ala4397=)
|
rs543458339
|
|
NM_000540.3(RYR1):c.13192G>A (p.Gly4398Arg)
|
rs1472582325
|
|
NM_000540.3(RYR1):c.13194G>A (p.Gly4398=)
|
|
|
NM_000540.3(RYR1):c.13197G>A (p.Pro4399=)
|
rs773923211
|
|
NM_000540.3(RYR1):c.13197_13202dup (p.Gly4401_Asp4402insGlyGly)
|
|
|
NM_000540.3(RYR1):c.131G>C (p.Arg44Pro)
|
|
|
NM_000540.3(RYR1):c.13200C>T (p.Gly4400=)
|
|
|
NM_000540.3(RYR1):c.13201G>A (p.Gly4401Arg)
|
rs1183376732
|
|
NM_000540.3(RYR1):c.13206C>T (p.Asp4402=)
|
|
|
NM_000540.3(RYR1):c.13208C>T (p.Ala4403Val)
|
|
|
NM_000540.3(RYR1):c.13208_13210del (p.Ala4403del)
|
|
|
NM_000540.3(RYR1):c.13209A>C (p.Ala4403=)
|
|
|
NM_000540.3(RYR1):c.13209A>G (p.Ala4403=)
|
|
|
NM_000540.3(RYR1):c.13213G>A (p.Gly4405Ser)
|
|
|
NM_000540.3(RYR1):c.13213_13224dup (p.Gly4405_Ala4408dup)
|
rs775571885
|
|
NM_000540.3(RYR1):c.13215C>T (p.Gly4405=)
|
|
|
NM_000540.3(RYR1):c.13218G>A (p.Glu4406=)
|
|
|
NM_000540.3(RYR1):c.13220G>A (p.Gly4407Asp)
|
rs761108833
|
|
NM_000540.3(RYR1):c.13220del (p.Gly4407fs)
|
rs1568583728
|
|
NM_000540.3(RYR1):c.13222G>C (p.Ala4408Pro)
|
|
|
NM_000540.3(RYR1):c.13224C>G (p.Ala4408=)
|
rs1599635952
|
|
NM_000540.3(RYR1):c.13224_13235dup (p.Ser4409_Ala4412dup)
|
rs1599635941
|
|
NM_000540.3(RYR1):c.13227C>T (p.Ser4409=)
|
|
|
NM_000540.3(RYR1):c.13228G>T (p.Glu4410Ter)
|
|
|
NM_000540.3(RYR1):c.13230G>A (p.Glu4410=)
|
|
|
NM_000540.3(RYR1):c.13230G>C (p.Glu4410Asp)
|
rs942942261
|
|
NM_000540.3(RYR1):c.13235C>G (p.Ala4412Gly)
|
|
|
NM_000540.3(RYR1):c.13236T>A (p.Ala4412=)
|
|
|
NM_000540.3(RYR1):c.13237G>A (p.Gly4413Arg)
|
|
|
NM_000540.3(RYR1):c.13244_13264del (p.Ala4415_Asp4421del)
|
rs763413580
|
|
NM_000540.3(RYR1):c.13244_13264dup (p.Ala4415_Asp4421dup)
|
rs763413580
|
|
NM_000540.3(RYR1):c.13245C>T (p.Ala4415=)
|
|
|
NM_000540.3(RYR1):c.13248_13256del (p.Glu4417_Ala4419del)
|
rs2145846755
|
|
NM_000540.3(RYR1):c.13251G>A (p.Glu4417=)
|
rs1217912658
|
|
NM_000540.3(RYR1):c.13257T>G (p.Ala4419=)
|
|
|
NM_000540.3(RYR1):c.13260del (p.Asp4421fs)
|
rs1568583900
|
|
NM_000540.3(RYR1):c.13265AGG[2] (p.Glu4424del)
|
rs930978242
|
|
NM_000540.3(RYR1):c.13268A>C (p.Glu4423Ala)
|
rs1358394495
|
|
NM_000540.3(RYR1):c.13272G>A (p.Glu4424=)
|
|
|
NM_000540.3(RYR1):c.13275G>A (p.Ala4425=)
|
|
|
NM_000540.3(RYR1):c.13275G>T (p.Ala4425=)
|
|
|
NM_000540.3(RYR1):c.13352C>A (p.Ala4451Asp)
|
rs886054408
|
|
NM_000540.3(RYR1):c.13352C>T (p.Ala4451Val)
|
|
|
NM_000540.3(RYR1):c.13353T>G (p.Ala4451=)
|
|
|
NM_000540.3(RYR1):c.13355_13356delinsAT (p.Gly4452Asp)
|
rs1973385537
|
|
NM_000540.3(RYR1):c.13356C>G (p.Gly4452=)
|
rs1228185652
|
|
NM_000540.3(RYR1):c.13356C>T (p.Gly4452=)
|
|
|
NM_000540.3(RYR1):c.13359_13364dup (p.Leu4454_Gly4455dup)
|
rs886054409
|
|
NM_000540.3(RYR1):c.1335G>T (p.Gln445His)
|
|
|
NM_000540.3(RYR1):c.13365G>A (p.Gly4455=)
|
|
|
NM_000540.3(RYR1):c.13370dup (p.Met4457fs)
|
|
|
NM_000540.3(RYR1):c.13377C>A (p.Asp4459Glu)
|
|
|
NM_000540.3(RYR1):c.13377C>T (p.Asp4459=)
|
|
|
NM_000540.3(RYR1):c.13379C>T (p.Thr4460Met)
|
rs955320442
|
|
NM_000540.3(RYR1):c.13382C>A (p.Thr4461Lys)
|
|
|
NM_000540.3(RYR1):c.13382C>T (p.Thr4461Met)
|
|
|
NM_000540.3(RYR1):c.13383G>A (p.Thr4461=)
|
|
|
NM_000540.3(RYR1):c.13385C>T (p.Pro4462Leu)
|
rs1012029407
|
|
NM_000540.3(RYR1):c.13388C>T (p.Ala4463Val)
|
rs1350916629
|
|
NM_000540.3(RYR1):c.13389G>A (p.Ala4463=)
|
|
|
NM_000540.3(RYR1):c.13391A>C (p.Glu4464Ala)
|
|
|
NM_000540.3(RYR1):c.13392A>G (p.Glu4464=)
|
|
|
NM_000540.3(RYR1):c.13394C>T (p.Pro4465Leu)
|
|
|
NM_000540.3(RYR1):c.13395G>A (p.Pro4465=)
|
|
|
NM_000540.3(RYR1):c.13396C>A (p.Pro4466Thr)
|
|
|
NM_000540.3(RYR1):c.13397C>G (p.Pro4466Arg)
|
|
|
NM_000540.3(RYR1):c.13398C>A (p.Pro4466=)
|
rs1599636544
|
|
NM_000540.3(RYR1):c.133C>G (p.Leu45Val)
|
|
|
NM_000540.3(RYR1):c.13401A>G (p.Thr4467=)
|
|
|
NM_000540.3(RYR1):c.13402C>A (p.Pro4468Thr)
|
|
|
NM_000540.3(RYR1):c.13404C>T (p.Pro4468=)
|
|
|
NM_000540.3(RYR1):c.13408G>A (p.Gly4470Ser)
|
|
|
NM_000540.3(RYR1):c.13409G>T (p.Gly4470Val)
|
rs1261297305
|
|
NM_000540.3(RYR1):c.13412C>A (p.Ser4471Tyr)
|
rs1973389067
|
|
NM_000540.3(RYR1):c.13413del (p.Ile4473fs)
|
|
|
NM_000540.3(RYR1):c.13414C>T (p.Pro4472Ser)
|
|
|
NM_000540.3(RYR1):c.13415C>G (p.Pro4472Arg)
|
rs1973389353
|
|
NM_000540.3(RYR1):c.13416del (p.Ile4473fs)
|
rs2145847760
|
|
NM_000540.3(RYR1):c.13424A>G (p.Lys4475Arg)
|
|
|
NM_000540.3(RYR1):c.1342A>T (p.Ile448Phe)
|
rs911417327
|
|
NM_000540.3(RYR1):c.13431A>T (p.Lys4477Asn)
|
rs1973390396
|
|
NM_000540.3(RYR1):c.13432T>C (p.Leu4478=)
|
rs1599636630
|
|
NM_000540.3(RYR1):c.13434G>A (p.Leu4478=)
|
rs1242695854
|
|
NM_000540.3(RYR1):c.13435G>C (p.Gly4479Arg)
|
|
|
NM_000540.3(RYR1):c.13437+13G>A
|
|
|
NM_000540.3(RYR1):c.13437+14C>A
|
rs771599721
|
|
NM_000540.3(RYR1):c.13437+14C>T
|
rs771599721
|
|
NM_000540.3(RYR1):c.13437+15G>A
|
|
|
NM_000540.3(RYR1):c.13437+15G>C
|
rs886038319
|
|
NM_000540.3(RYR1):c.13437+15GGGGTTTT[3]
|
|
|
NM_000540.3(RYR1):c.13437+16G>A
|
|
|
NM_000540.3(RYR1):c.13437+18G>A
|
|
|
NM_000540.3(RYR1):c.13437+18del
|
rs1424130502
|
|
NM_000540.3(RYR1):c.13437+19T>A
|
|
|
NM_000540.3(RYR1):c.13437+1G>A
|
rs1568584452
|
|
NM_000540.3(RYR1):c.13437+292_13437+308del
|
rs555414362
|
|
NM_000540.3(RYR1):c.13437+3GA[2]
|
rs1965720742
|
|
NM_000540.3(RYR1):c.13437G>T (p.Gly4479=)
|
|
|
NM_000540.3(RYR1):c.13438-10C>G
|
|
|
NM_000540.3(RYR1):c.13438-12C>T
|
|
|
NM_000540.3(RYR1):c.13438-13G>A
|
|
|
NM_000540.3(RYR1):c.13438-15T>C
|
|
|
NM_000540.3(RYR1):c.13438-5C>T
|
|
|
NM_000540.3(RYR1):c.13438-6C>G
|
|
|
NM_000540.3(RYR1):c.13443T>C (p.Asp4481=)
|
|
|
NM_000540.3(RYR1):c.1344C>T (p.Ile448=)
|
rs1288829088
|
|
NM_000540.3(RYR1):c.13453G>A (p.Glu4485Lys)
|
|
|
NM_000540.3(RYR1):c.13454A>G (p.Glu4485Gly)
|
|
|
NM_000540.3(RYR1):c.13467AGAGCC[3] (p.4489PE[6])
|
rs751816707
|
|
NM_000540.3(RYR1):c.13470G>A (p.Glu4490=)
|
rs193922858
|
|
NM_000540.3(RYR1):c.13473A>C (p.Pro4491=)
|
rs770239842
|
|
NM_000540.3(RYR1):c.13476_13487del (p.4489PE[3])
|
rs2145852626
|
|
NM_000540.3(RYR1):c.13477C>T (p.Pro4493Ser)
|
|
|
NM_000540.3(RYR1):c.13479C>G (p.Pro4493=)
|
|
|
NM_000540.3(RYR1):c.13479_13484dup (p.4489PE[6])
|
rs765913714
|
|
NM_000540.3(RYR1):c.13480G>T (p.Glu4494Ter)
|
rs143849895
|
|
NM_000540.3(RYR1):c.13484C>G (p.Pro4495Arg)
|
|
|
NM_000540.3(RYR1):c.13486del (p.Glu4496fs)
|
|
|
NM_000540.3(RYR1):c.13491A>G (p.Pro4497=)
|
|
|
NM_000540.3(RYR1):c.13497G>A (p.Leu4499=)
|
|
|
NM_000540.3(RYR1):c.13498G>T (p.Glu4500Ter)
|
rs752192756
|
|
NM_000540.3(RYR1):c.1349A>G (p.Tyr450Cys)
|
rs1967156624
|
|
NM_000540.3(RYR1):c.134T>C (p.Leu45Pro)
|
|
|
NM_000540.3(RYR1):c.13509A>G (p.Lys4503=)
|
rs193922859
|
|
NM_000540.3(RYR1):c.13512C>G (p.Ala4504=)
|
|
|
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His)
|
rs150396398
|
|
NM_000540.3(RYR1):c.13514+10C>T
|
|
|
NM_000540.3(RYR1):c.13514+12T>C
|
|
|
NM_000540.3(RYR1):c.13514+16G>A
|
rs761877895
|
|
NM_000540.3(RYR1):c.13514+17C>T
|
|
|
NM_000540.3(RYR1):c.13514+18T>C
|
|
|
NM_000540.3(RYR1):c.13515-14G>A
|
|
|
NM_000540.3(RYR1):c.13515-17T>C
|
|
|
NM_000540.3(RYR1):c.13515-7C>T
|
|
|
NM_000540.3(RYR1):c.13515-9G>T
|
|
|
NM_000540.3(RYR1):c.13518C>G (p.Ala4506=)
|
rs749640716
|
|
NM_000540.3(RYR1):c.13518C>T (p.Ala4506=)
|
rs749640716
|
|
NM_000540.3(RYR1):c.13525G>A (p.Gly4509Arg)
|
rs1973512099
|
|
NM_000540.3(RYR1):c.13528G>A (p.Glu4510Lys)
|
|
|
NM_000540.3(RYR1):c.13533G>A (p.Lys4511=)
|
rs1337711893
|
|
NM_000540.3(RYR1):c.13534G>T (p.Glu4512Ter)
|
rs1568587495
|
|
NM_000540.3(RYR1):c.13540G>T (p.Val4514Phe)
|
|
|
NM_000540.3(RYR1):c.13543C>A (p.Pro4515Thr)
|
|
|
NM_000540.3(RYR1):c.13546G>A (p.Glu4516Lys)
|
|
|
NM_000540.3(RYR1):c.1354G>A (p.Glu452Lys)
|
|
|
NM_000540.3(RYR1):c.13551C>T (p.Pro4517=)
|
rs886054410
|
|
NM_000540.3(RYR1):c.13554A>G (p.Thr4518=)
|
|
|
NM_000540.3(RYR1):c.13565C>A (p.Pro4522His)
|
rs145167688
|
|
NM_000540.3(RYR1):c.13565C>G (p.Pro4522Arg)
|
rs145167688
|
|
NM_000540.3(RYR1):c.13565C>T (p.Pro4522Leu)
|
rs145167688
|
|
NM_000540.3(RYR1):c.13566C>T (p.Pro4522=)
|
|
|
NM_000540.3(RYR1):c.13573C>T (p.Gln4525Ter)
|
rs2145855461
|
|
NM_000540.3(RYR1):c.13575A>G (p.Gln4525=)
|
|
|
NM_000540.3(RYR1):c.13579C>T (p.Pro4527Ser)
|
rs1049222611
|
|
NM_000540.3(RYR1):c.13583C>T (p.Pro4528Leu)
|
rs751025558
|
|
NM_000540.3(RYR1):c.13584C>T (p.Pro4528=)
|
|
|
NM_000540.3(RYR1):c.13594C>T (p.Pro4532Ser)
|
rs2145855568
|
|
NM_000540.3(RYR1):c.13597AAG[1] (p.Lys4534del)
|
rs1336472022
|
|
NM_000540.3(RYR1):c.13599G>T (p.Lys4533Asn)
|
|
|
NM_000540.3(RYR1):c.1359T>A (p.Pro453=)
|
|
|
NM_000540.3(RYR1):c.13605G>C (p.Glu4535Asp)
|
rs779198972
|
|
NM_000540.3(RYR1):c.13609_13631dup (p.Val4547fs)
|
rs1599641280
|
|
NM_000540.3(RYR1):c.1360C>T (p.Pro454Ser)
|
rs1967157631
|
|
NM_000540.3(RYR1):c.13616G>A (p.Gly4539Asp)
|
rs1599641292
|
|
NM_000540.3(RYR1):c.13618G>A (p.Glu4540Lys)
|
|
|
NM_000540.3(RYR1):c.13628G>C (p.Gly4543Ala)
|
rs200002274
|
|
NM_000540.3(RYR1):c.13629A>G (p.Gly4543=)
|
rs2145855700
|
|
NM_000540.3(RYR1):c.13632A>G (p.Glu4544=)
|
|
|
NM_000540.3(RYR1):c.13647G>A (p.Arg4549=)
|
rs1555800818
|
|
NM_000540.3(RYR1):c.1364C>T (p.Ser455Phe)
|
rs1483259409
|
|
NM_000540.3(RYR1):c.13654T>A (p.Phe4552Ile)
|
rs1085307909
|
|
NM_000540.3(RYR1):c.13656C>T (p.Phe4552=)
|
|
|
NM_000540.3(RYR1):c.13659+18T>A
|
|
|
NM_000540.3(RYR1):c.13659+19C>T
|
|
|
NM_000540.3(RYR1):c.13659+2T>A
|
|
|
NM_000540.3(RYR1):c.13659+6G>A
|
rs2145855847
|
|
NM_000540.3(RYR1):c.13659+7A>T
|
|
|
NM_000540.3(RYR1):c.1365C>G (p.Ser455=)
|
|
|
NM_000540.3(RYR1):c.1365C>T (p.Ser455=)
|
rs906190453
|
|
NM_000540.3(RYR1):c.13660-12C>T
|
|
|
NM_000540.3(RYR1):c.13660-15T>C
|
|
|
NM_000540.3(RYR1):c.13660-16T>C
|
rs1425812048
|
|
NM_000540.3(RYR1):c.13660-16_13660-15del
|
|
|
NM_000540.3(RYR1):c.13660-19T>C
|
|
|
NM_000540.3(RYR1):c.13660-1G>A
|
|
|
NM_000540.3(RYR1):c.13660-1_13660del
|
|
|
NM_000540.3(RYR1):c.13660-20_13660-17del
|
|
|
NM_000540.3(RYR1):c.13660-5C>T
|
|
|
NM_000540.3(RYR1):c.13660-78C>A
|
rs111512034
|
|
NM_000540.3(RYR1):c.13660-7C>G
|
|
|
NM_000540.3(RYR1):c.13660-9C>G
|
|
|
NM_000540.3(RYR1):c.13664A>G (p.Tyr4555Cys)
|
|
|
NM_000540.3(RYR1):c.13665C>G (p.Tyr4555Ter)
|
|
|
NM_000540.3(RYR1):c.13668G>A (p.Leu4556=)
|
|
|
NM_000540.3(RYR1):c.13670C>T (p.Ser4557Phe)
|
rs1973672468
|
|
NM_000540.3(RYR1):c.13672C>G (p.Arg4558Gly)
|
rs771741606
|
|
NM_000540.3(RYR1):c.13674G>T (p.Arg4558=)
|
|
|
NM_000540.3(RYR1):c.13677C>G (p.Asn4559Lys)
|
|
|
NM_000540.3(RYR1):c.13680T>C (p.Phe4560=)
|
rs377664510
|
|
NM_000540.3(RYR1):c.13687C>T (p.Leu4563=)
|
|
|
NM_000540.3(RYR1):c.13689G>A (p.Leu4563=)
|
|
|
NM_000540.3(RYR1):c.1368G>A (p.Glu456=)
|
|
|
NM_000540.3(RYR1):c.13690C>G (p.Arg4564Gly)
|
rs753208767
|
|
NM_000540.3(RYR1):c.13690C>T (p.Arg4564Trp)
|
rs753208767
|
|
NM_000540.3(RYR1):c.13694T>G (p.Phe4565Cys)
|
|
|
NM_000540.3(RYR1):c.13694_13695delinsGT (p.Phe4565Cys)
|
|
|
NM_000540.3(RYR1):c.13695C>T (p.Phe4565=)
|
rs751989788
|
|
NM_000540.3(RYR1):c.13699G>T (p.Ala4567Ser)
|
rs371441593
|
|
NM_000540.3(RYR1):c.13701C>T (p.Ala4567=)
|
|
|
NM_000540.3(RYR1):c.13702C>G (p.Leu4568Val)
|
rs1599646668
|
|
NM_000540.3(RYR1):c.13703T>C (p.Leu4568Pro)
|
rs118192131
|
|
NM_000540.3(RYR1):c.13703T>G (p.Leu4568Arg)
|
rs118192131
|
|
NM_000540.3(RYR1):c.13708T>C (p.Leu4570=)
|
rs1599646685
|
|
NM_000540.3(RYR1):c.13713A>G (p.Ala4571=)
|
|
|
NM_000540.3(RYR1):c.13714T>C (p.Phe4572Leu)
|
rs2145865333
|
|
NM_000540.3(RYR1):c.13717G>C (p.Ala4573Pro)
|
rs1273456307
|
|
NM_000540.3(RYR1):c.13720A>G (p.Ile4574Val)
|
rs1458472157
|
|
NM_000540.3(RYR1):c.13724A>C (p.Asn4575Thr)
|
rs1568591803
|
|
NM_000540.3(RYR1):c.13729A>G (p.Ile4577Val)
|
|
|
NM_000540.3(RYR1):c.1372T>C (p.Leu458=)
|
rs369932139
|
|
NM_000540.3(RYR1):c.13735C>T (p.Leu4579=)
|
rs934721165
|
|
NM_000540.3(RYR1):c.13741T>A (p.Tyr4581Asn)
|
rs2145865421
|
|
NM_000540.3(RYR1):c.13743T>C (p.Tyr4581=)
|
rs1314705351
|
|
NM_000540.3(RYR1):c.13743T>G (p.Tyr4581Ter)
|
|
|
NM_000540.3(RYR1):c.13744A>G (p.Lys4582Glu)
|
|
|
NM_000540.3(RYR1):c.13746+10C>G
|
|
|
NM_000540.3(RYR1):c.13746+10C>T
|
rs768661173
|
|
NM_000540.3(RYR1):c.13746+18C>G
|
|
|
NM_000540.3(RYR1):c.13746+4C>G
|
rs1973676634
|
|
NM_000540.3(RYR1):c.13746+9C>G
|
|
|
NM_000540.3(RYR1):c.13747-13G>A
|
|
|
NM_000540.3(RYR1):c.13747-14T>G
|
|
|
NM_000540.3(RYR1):c.13747-18T>C
|
|
|
NM_000540.3(RYR1):c.13747-273T>A
|
rs16972718
|
|
NM_000540.3(RYR1):c.13747-7A>G
|
|
|
NM_000540.3(RYR1):c.13747-9C>G
|
|
|
NM_000540.3(RYR1):c.13752A>G (p.Ser4584=)
|
|
|
NM_000540.3(RYR1):c.13756T>C (p.Ser4586Pro)
|
rs1555801840
|
|
NM_000540.3(RYR1):c.13762C>T (p.Pro4588Ser)
|
rs2145869414
|
|
NM_000540.3(RYR1):c.13764del (p.Glu4590fs)
|
rs1555801843
|
|
NM_000540.3(RYR1):c.13766G>C (p.Gly4589Ala)
|
|
|
NM_000540.3(RYR1):c.13768G>A (p.Glu4590Lys)
|
rs766518951
|
|
NM_000540.3(RYR1):c.13780dup (p.Glu4594fs)
|
rs2145869510
|
|
NM_000540.3(RYR1):c.13782del (p.Gly4595fs)
|
rs1555801850
|
|
NM_000540.3(RYR1):c.13783G>A (p.Gly4595Ser)
|
|
|
NM_000540.3(RYR1):c.1378C>T (p.His460Tyr)
|
|
|
NM_000540.3(RYR1):c.13790C>T (p.Ala4597Val)
|
rs1048118323
|
|
NM_000540.3(RYR1):c.13797G>C (p.Gly4599=)
|
|
|
NM_000540.3(RYR1):c.1379A>G (p.His460Arg)
|
rs1568445241
|
|
NM_000540.3(RYR1):c.13801G>A (p.Val4601Met)
|
|
|
NM_000540.3(RYR1):c.13802T>A (p.Val4601Glu)
|
|
|
NM_000540.3(RYR1):c.13808G>A (p.Gly4603Asp)
|
rs747880466
|
|
NM_000540.3(RYR1):c.1380C>G (p.His460Gln)
|
rs750304434
|
|
NM_000540.3(RYR1):c.1380C>T (p.His460=)
|
|
|
NM_000540.3(RYR1):c.13814G>C (p.Gly4605Ala)
|
rs1177853101
|
|
NM_000540.3(RYR1):c.1381G>T (p.Glu461Ter)
|
rs1159003478
|
|
NM_000540.3(RYR1):c.13824C>T (p.Gly4608=)
|
|
|
NM_000540.3(RYR1):c.13829C>G (p.Ser4610Cys)
|
|
|
NM_000540.3(RYR1):c.13832G>A (p.Gly4611Asp)
|
rs2145869746
|
|
NM_000540.3(RYR1):c.13832G>C (p.Gly4611Ala)
|
|
|
NM_000540.3(RYR1):c.13836G>A (p.Trp4612Ter)
|
rs1568593747
|
|
NM_000540.3(RYR1):c.1384G>A (p.Glu462Lys)
|
rs199592055
|
|
NM_000540.3(RYR1):c.13851A>G (p.Gly4617=)
|
rs794727989
|
|
NM_000540.3(RYR1):c.13858G>A (p.Ala4620Thr)
|
|
|
NM_000540.3(RYR1):c.13865G>C (p.Gly4622Ala)
|
rs760940805
|
|
NM_000540.3(RYR1):c.1386G>A (p.Glu462=)
|
|
|
NM_000540.3(RYR1):c.13882A>G (p.Met4628Val)
|
rs2145869953
|
|
NM_000540.3(RYR1):c.13882_13896dup (p.Met4628_Phe4632dup)
|
rs1555801872
|
|
NM_000540.3(RYR1):c.13887G>A (p.Val4629=)
|
rs1568593906
|
|
NM_000540.3(RYR1):c.13891T>A (p.Tyr4631Asn)
|
rs118192132
|
|
NM_000540.3(RYR1):c.13892A>C (p.Tyr4631Ser)
|
rs1568593922
|
|
NM_000540.3(RYR1):c.13892A>G (p.Tyr4631Cys)
|
rs1568593922
|
|
NM_000540.3(RYR1):c.13893C>G (p.Tyr4631Ter)
|
|
|
NM_000540.3(RYR1):c.13895del (p.Phe4632fs)
|
rs1973745447
|
|
NM_000540.3(RYR1):c.13896C>T (p.Phe4632=)
|
|
|
NM_000540.3(RYR1):c.13898T>A (p.Leu4633Gln)
|
rs1555801874
|
|
NM_000540.3(RYR1):c.13898T>C (p.Leu4633Pro)
|
rs1555801874
|
|
NM_000540.3(RYR1):c.13899G>A (p.Leu4633=)
|
|
|
NM_000540.3(RYR1):c.13900G>A (p.Glu4634Lys)
|
rs118192133
|
|
NM_000540.3(RYR1):c.13900G>T (p.Glu4634Ter)
|
rs118192133
|
|
NM_000540.3(RYR1):c.13903G>A (p.Glu4635Lys)
|
rs1555801879
|
|
NM_000540.3(RYR1):c.13904A>G (p.Glu4635Gly)
|
rs1568593984
|
|
NM_000540.3(RYR1):c.13906A>G (p.Ser4636Gly)
|
rs374145578
|
|
NM_000540.3(RYR1):c.13909A>C (p.Thr4637Pro)
|
|
|
NM_000540.3(RYR1):c.13909A>G (p.Thr4637Ala)
|
rs118192166
|
|
NM_000540.3(RYR1):c.13910C>T (p.Thr4637Ile)
|
rs118192134
|
|
NM_000540.3(RYR1):c.13912G>A (p.Gly4638Ser)
|
rs118192136
|
|
NM_000540.3(RYR1):c.13913G>A (p.Gly4638Asp)
|
rs118192135
|
|
NM_000540.3(RYR1):c.13918A>G (p.Met4640Val)
|
rs756850145
|
|
NM_000540.3(RYR1):c.13918A>T (p.Met4640Leu)
|
rs756850145
|
|
NM_000540.3(RYR1):c.13919T>G (p.Met4640Arg)
|
rs1568594068
|
|
NM_000540.3(RYR1):c.13920G>A (p.Met4640Ile)
|
rs1568594079
|
|
NM_000540.3(RYR1):c.13924C>G (p.Pro4642Ala)
|
rs780958728
|
|
NM_000540.3(RYR1):c.13924C>T (p.Pro4642Ser)
|
|
|
NM_000540.3(RYR1):c.13925C>G (p.Pro4642Arg)
|
|
|
NM_000540.3(RYR1):c.13925C>T (p.Pro4642Leu)
|
rs2145870190
|
|
NM_000540.3(RYR1):c.1392G>A (p.Gln464=)
|
|
|
NM_000540.3(RYR1):c.13930C>A (p.Leu4644Met)
|
|
|
NM_000540.3(RYR1):c.13930C>T (p.Leu4644=)
|
rs1441957717
|
|
NM_000540.3(RYR1):c.13931T>C (p.Leu4644Pro)
|
rs1568594108
|
|
NM_000540.3(RYR1):c.13933C>G (p.Arg4645Gly)
|
rs377667641
|
|
NM_000540.3(RYR1):c.13934G>C (p.Arg4645Pro)
|
rs193922860
|
|
NM_000540.3(RYR1):c.13937G>A (p.Cys4646Tyr)
|
rs2145870253
|
|
NM_000540.3(RYR1):c.13940T>C (p.Leu4647Pro)
|
rs1555801902
|
|
NM_000540.3(RYR1):c.13941_13946del (p.Ser4648_Leu4649del)
|
rs193922861
|
|
NM_000540.3(RYR1):c.13948C>T (p.Leu4650=)
|
rs1555801907
|
|
NM_000540.3(RYR1):c.13949T>C (p.Leu4650Pro)
|
rs118192138
|
|
NM_000540.3(RYR1):c.13952A>C (p.His4651Pro)
|
rs118192139
|
|
NM_000540.3(RYR1):c.13952A>G (p.His4651Arg)
|
rs118192139
|
|
NM_000540.3(RYR1):c.13955C>T (p.Thr4652Ile)
|
|
|
NM_000540.3(RYR1):c.13965C>G (p.Ala4655=)
|
|
|
NM_000540.3(RYR1):c.13971C>T (p.Leu4657=)
|
rs1188860780
|
|
NM_000540.3(RYR1):c.13994T>C (p.Leu4665Pro)
|
rs2145870526
|
|
NM_000540.3(RYR1):c.13994_13995delinsCT (p.Leu4665Pro)
|
rs193922862
|
|
NM_000540.3(RYR1):c.13995C>T (p.Leu4665=)
|
|
|
NM_000540.3(RYR1):c.13996A>G (p.Lys4666Glu)
|
|
|
NM_000540.3(RYR1):c.13998+10T>C
|
|
|
NM_000540.3(RYR1):c.13998+14C>T
|
|
|
NM_000540.3(RYR1):c.13998+15A>C
|
|
|
NM_000540.3(RYR1):c.13998+43G>A
|
rs570156523
|
|
NM_000540.3(RYR1):c.13998+8C>A
|
rs2145870558
|
|
NM_000540.3(RYR1):c.13998G>A (p.Lys4666=)
|
rs1599649479
|
|
NM_000540.3(RYR1):c.13999-12C>T
|
|
|
NM_000540.3(RYR1):c.13999-13_13999-11del
|
|
|
NM_000540.3(RYR1):c.13999-14C>T
|
|
|
NM_000540.3(RYR1):c.13999-15C>T
|
|
|
NM_000540.3(RYR1):c.13999-198G>C
|
rs117175310
|
|
NM_000540.3(RYR1):c.13999-3C>G
|
|
|
NM_000540.3(RYR1):c.13999-4C>T
|
|
|
NM_000540.3(RYR1):c.1399C>T (p.Leu467=)
|
|
|
NM_000540.3(RYR1):c.14001_14002delinsTT (p.Pro4668Ser)
|
rs1973801119
|
|
NM_000540.3(RYR1):c.14004C>T (p.Pro4668=)
|
rs576384779
|
|
NM_000540.3(RYR1):c.14007G>A (p.Leu4669=)
|
rs1568595617
|
|
NM_000540.3(RYR1):c.14013C>T (p.Ile4671=)
|
|
|
NM_000540.3(RYR1):c.14016T>A (p.Phe4672Leu)
|
rs1973802133
|
|
NM_000540.3(RYR1):c.14019G>A (p.Lys4673=)
|
|
|
NM_000540.3(RYR1):c.1401G>A (p.Leu467=)
|
|
|
NM_000540.3(RYR1):c.14025G>A (p.Glu4675=)
|
|
|
NM_000540.3(RYR1):c.1402C>A (p.Arg468=)
|
|
|
NM_000540.3(RYR1):c.14031G>C (p.Glu4677Asp)
|
|
|
NM_000540.3(RYR1):c.14035G>A (p.Ala4679Thr)
|
|
|
NM_000540.3(RYR1):c.14038C>A (p.Arg4680=)
|
|
|
NM_000540.3(RYR1):c.1403G>A (p.Arg468Gln)
|
|
|
NM_000540.3(RYR1):c.14040G>A (p.Arg4680=)
|
|
|
NM_000540.3(RYR1):c.1404_1412del (p.Ser469_Arg471del)
|
rs1555767373
|
|
NM_000540.3(RYR1):c.14051T>C (p.Phe4684Ser)
|
rs193922864
|
|
NM_000540.3(RYR1):c.14052T>C (p.Phe4684=)
|
|
|
NM_000540.3(RYR1):c.14057G>A (p.Gly4686Asp)
|
|
|
NM_000540.3(RYR1):c.14059C>T (p.Leu4687=)
|
|
|
NM_000540.3(RYR1):c.14063A>G (p.Tyr4688Cys)
|
|
|
NM_000540.3(RYR1):c.14064C>T (p.Tyr4688=)
|
|
|
NM_000540.3(RYR1):c.14069C>T (p.Thr4690Met)
|
|
|
NM_000540.3(RYR1):c.1406G>C (p.Ser469Thr)
|
|
|
NM_000540.3(RYR1):c.14073G>A (p.Glu4691=)
|
|
|
NM_000540.3(RYR1):c.14078C>T (p.Pro4693Leu)
|
|
|
NM_000540.3(RYR1):c.14085C>A (p.Asp4695Glu)
|
rs1248688892
|
|
NM_000540.3(RYR1):c.14085C>T (p.Asp4695=)
|
rs1248688892
|
|
NM_000540.3(RYR1):c.14086G>C (p.Asp4696His)
|
rs781575677
|
|
NM_000540.3(RYR1):c.1408C>T (p.Leu470=)
|
|
|
NM_000540.3(RYR1):c.14094G>C (p.Val4698=)
|
|
|
NM_000540.3(RYR1):c.14097G>A (p.Lys4699=)
|
|
|
NM_000540.3(RYR1):c.14104T>C (p.Trp4702Arg)
|
rs2145874187
|
|
NM_000540.3(RYR1):c.14110C>T (p.Arg4704Ter)
|
rs1568595930
|
|
NM_000540.3(RYR1):c.14111G>A (p.Arg4704Gln)
|
|
|
NM_000540.3(RYR1):c.14113C>T (p.Leu4705=)
|
|
|
NM_000540.3(RYR1):c.1411C>T (p.Arg471Cys)
|
rs1376393998
|
|
NM_000540.3(RYR1):c.14120_14129+14del
|
|
|
NM_000540.3(RYR1):c.14124C>T (p.Asn4708=)
|
|
|
NM_000540.3(RYR1):c.14126C>G (p.Thr4709Arg)
|
|
|
NM_000540.3(RYR1):c.14127G>A (p.Thr4709=)
|
|
|
NM_000540.3(RYR1):c.14129+10C>T
|
rs546280470
|
|
NM_000540.3(RYR1):c.14129+15C>G
|
|
|
NM_000540.3(RYR1):c.14129+16C>G
|
|
|
NM_000540.3(RYR1):c.14129+1G>T
|
rs142929172
|
|
NM_000540.3(RYR1):c.14129+9C>G
|
|
|
NM_000540.3(RYR1):c.14130-12C>G
|
|
|
NM_000540.3(RYR1):c.14130-13del
|
|
|
NM_000540.3(RYR1):c.14130-14C>G
|
|
|
NM_000540.3(RYR1):c.14130-16C>G
|
|
|
NM_000540.3(RYR1):c.14130-16C>T
|
|
|
NM_000540.3(RYR1):c.14130-18C>T
|
|
|
NM_000540.3(RYR1):c.14130-19TC[5]
|
rs750824483
|
|
NM_000540.3(RYR1):c.14130-19TC[8]
|
rs750824483
|
|
NM_000540.3(RYR1):c.14130-19TC[9]
|
rs750824483
|
|
NM_000540.3(RYR1):c.14130-8C>T
|
rs140808099
|
|
NM_000540.3(RYR1):c.14154C>T (p.Asp4718=)
|
|
|
NM_000540.3(RYR1):c.14159T>C (p.Phe4720Ser)
|
rs2145882148
|
|
NM_000540.3(RYR1):c.1415A>G (p.Asn472Ser)
|
rs1057518361
|
|
NM_000540.3(RYR1):c.14167C>A (p.Arg4723Ser)
|
rs200473035
|
|
NM_000540.3(RYR1):c.14172+10C>T
|
rs768039681
|
|
NM_000540.3(RYR1):c.14172+11A>G
|
|
|
NM_000540.3(RYR1):c.14172+11del
|
|
|
NM_000540.3(RYR1):c.14172+16T>C
|
|
|
NM_000540.3(RYR1):c.14172+19C>T
|
|
|
NM_000540.3(RYR1):c.14172+1G>A
|
|
|
NM_000540.3(RYR1):c.14172+20C>T
|
|
|
NM_000540.3(RYR1):c.14172+8G>A
|
|
|
NM_000540.3(RYR1):c.14172+9A>T
|
|
|
NM_000540.3(RYR1):c.14173-10T>A
|
|
|
NM_000540.3(RYR1):c.14173-114dup
|
rs111471835
|
|
NM_000540.3(RYR1):c.14173-1G>A
|
|
|
NM_000540.3(RYR1):c.14173-6G>A
|
|
|
NM_000540.3(RYR1):c.14173-6G>C
|
rs775047238
|
|
NM_000540.3(RYR1):c.14173-6G>T
|
rs775047238
|
|
NM_000540.3(RYR1):c.14173-7T>C
|
|
|
NM_000540.3(RYR1):c.14173-8T>C
|
|
|
NM_000540.3(RYR1):c.14173-9C>T
|
|
|
NM_000540.3(RYR1):c.14173G>C (p.Val4725Leu)
|
rs1049117716
|
|
NM_000540.3(RYR1):c.14175C>T (p.Val4725=)
|
|
|
NM_000540.3(RYR1):c.14178G>A (p.Leu4726=)
|
rs2145888142
|
|
NM_000540.3(RYR1):c.14186A>C (p.His4729Pro)
|
rs1568601643
|
|
NM_000540.3(RYR1):c.14186A>G (p.His4729Arg)
|
|
|
NM_000540.3(RYR1):c.14190G>A (p.Gly4730=)
|
|
|
NM_000540.3(RYR1):c.14197T>G (p.Tyr4733Asp)
|
rs193922865
|
|
NM_000540.3(RYR1):c.14199C>T (p.Tyr4733=)
|
|
|
NM_000540.3(RYR1):c.14200G>A (p.Gly4734Arg)
|
rs1456212776
|
|
NM_000540.3(RYR1):c.14201G>A (p.Gly4734Glu)
|
rs193922866
|
|
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln)
|
rs193922868
|
|
NM_000540.3(RYR1):c.1421A>T (p.Gln474Leu)
|
rs2145381188
|
|
NM_000540.3(RYR1):c.14224C>T (p.Leu4742=)
|
|
|
NM_000540.3(RYR1):c.14227G>A (p.Gly4743Ser)
|
rs2145888340
|
|
NM_000540.3(RYR1):c.14228G>A (p.Gly4743Asp)
|
rs193922869
|
|
NM_000540.3(RYR1):c.1422G>T (p.Gln474His)
|
rs193922767
|
|
NM_000540.3(RYR1):c.14235C>T (p.Asp4745=)
|
rs1277398138
|
|
NM_000540.3(RYR1):c.14238G>A (p.Leu4746=)
|
|
|
NM_000540.3(RYR1):c.14244A>C (p.Thr4748=)
|
rs1599660141
|
|
NM_000540.3(RYR1):c.14249A>T (p.Glu4750Val)
|
rs1002217883
|
|
NM_000540.3(RYR1):c.14256A>C (p.Thr4752=)
|
rs1468571
|
|
NM_000540.3(RYR1):c.14256A>T (p.Thr4752=)
|
rs1468571
|
|
NM_000540.3(RYR1):c.14256_14257delinsCA (p.Ala4753Thr)
|
rs1555803356
|
|
NM_000540.3(RYR1):c.14258C>T (p.Ala4753Val)
|
|
|
NM_000540.3(RYR1):c.1425C>A (p.Ser475Arg)
|
|
|
NM_000540.3(RYR1):c.1425C>T (p.Ser475=)
|
|
|
NM_000540.3(RYR1):c.14264A>G (p.Asn4755Ser)
|
|
|
NM_000540.3(RYR1):c.14268G>A (p.Glu4756=)
|
rs1599660227
|
|
NM_000540.3(RYR1):c.14275C>T (p.Pro4759Ser)
|
rs761373177
|
|
NM_000540.3(RYR1):c.14279A>G (p.Asn4760Ser)
|
rs980411516
|
|
NM_000540.3(RYR1):c.14282C>G (p.Pro4761Arg)
|
rs373919284
|
|
NM_000540.3(RYR1):c.14282C>T (p.Pro4761Leu)
|
rs373919284
|
|
NM_000540.3(RYR1):c.14285C>T (p.Pro4762Leu)
|
|
|
NM_000540.3(RYR1):c.14288C>A (p.Pro4763Gln)
|
rs1974035851
|
|
NM_000540.3(RYR1):c.14291G>A (p.Gly4764Glu)
|
rs1974036074
|
|
NM_000540.3(RYR1):c.14298G>A (p.Leu4766=)
|
|
|
NM_000540.3(RYR1):c.14302T>G (p.Trp4768Gly)
|
|
|
NM_000540.3(RYR1):c.14303+14A>G
|
|
|
NM_000540.3(RYR1):c.14303+15C>A
|
|
|
NM_000540.3(RYR1):c.14303+15C>T
|
|
|
NM_000540.3(RYR1):c.14303+16C>T
|
|
|
NM_000540.3(RYR1):c.14303+8C>G
|
|
|
NM_000540.3(RYR1):c.14304-13C>T
|
|
|
NM_000540.3(RYR1):c.14304-17C>T
|
|
|
NM_000540.3(RYR1):c.14304-18C>T
|
|
|
NM_000540.3(RYR1):c.14304-3C>A
|
rs1568602195
|
|
NM_000540.3(RYR1):c.14304-6C>A
|
rs794728693
|
|
NM_000540.3(RYR1):c.14305C>G (p.Leu4769Val)
|
rs755948352
|
|
NM_000540.3(RYR1):c.14307C>T (p.Leu4769=)
|
|
|
NM_000540.3(RYR1):c.14316C>T (p.Ile4772=)
|
rs201838999
|
|
NM_000540.3(RYR1):c.14317G>A (p.Asp4773Asn)
|
rs754844157
|
|
NM_000540.3(RYR1):c.14317G>T (p.Asp4773Tyr)
|
|
|
NM_000540.3(RYR1):c.14328C>T (p.Tyr4776=)
|
|
|
NM_000540.3(RYR1):c.14335T>C (p.Trp4779Arg)
|
rs1974044905
|
|
NM_000540.3(RYR1):c.14339_14340del (p.Lys4780fs)
|
|
|
NM_000540.3(RYR1):c.14342T>C (p.Phe4781Ser)
|
|
|
NM_000540.3(RYR1):c.14346G>A (p.Gly4782=)
|
rs776128267
|
|
NM_000540.3(RYR1):c.14350A>C (p.Ile4784Leu)
|
rs1974045575
|
|
NM_000540.3(RYR1):c.14353T>C (p.Phe4785Leu)
|
|
|
NM_000540.3(RYR1):c.14364+11G>A
|
|
|
NM_000540.3(RYR1):c.14364+14del
|
|
|
NM_000540.3(RYR1):c.14364+15A>G
|
|
|
NM_000540.3(RYR1):c.14364+1G>A
|
rs1974046221
|
|
NM_000540.3(RYR1):c.14364+1G>T
|
rs1974046221
|
|
NM_000540.3(RYR1):c.14364+5_14364+31dup
|
rs2145889339
|
|
NM_000540.3(RYR1):c.14364+9G>A
|
rs2145889353
|
|
NM_000540.3(RYR1):c.14365-16C>T
|
rs1404378284
|
|
NM_000540.3(RYR1):c.14365-20C>T
|
|
|
NM_000540.3(RYR1):c.14365-20_14365-14del
|
|
|
NM_000540.3(RYR1):c.14365-2A>T
|
rs193922870
|
|
NM_000540.3(RYR1):c.14365-4A>G
|
|
|
NM_000540.3(RYR1):c.14365-6C>T
|
rs1064797242
|
|
NM_000540.3(RYR1):c.14372T>G (p.Leu4791Arg)
|
|
|
NM_000540.3(RYR1):c.14374T>C (p.Tyr4792His)
|
|
|
NM_000540.3(RYR1):c.14378T>C (p.Leu4793Pro)
|
rs118192179
|
|
NM_000540.3(RYR1):c.14378T>G (p.Leu4793Arg)
|
rs118192179
|
|
NM_000540.3(RYR1):c.14380G>A (p.Gly4794Ser)
|
rs2145894853
|
|
NM_000540.3(RYR1):c.14383T>C (p.Trp4795Arg)
|
|
|
NM_000540.3(RYR1):c.14384G>A (p.Trp4795Ter)
|
|
|
NM_000540.3(RYR1):c.14385G>A (p.Trp4795Ter)
|
rs565173276
|
|
NM_000540.3(RYR1):c.14385G>T (p.Trp4795Cys)
|
|
|
NM_000540.3(RYR1):c.14386T>C (p.Tyr4796His)
|
rs1568604251
|
|
NM_000540.3(RYR1):c.14387A>G (p.Tyr4796Cys)
|
rs118192167
|
|
NM_000540.3(RYR1):c.1438G>A (p.Glu480Lys)
|
rs878854375
|
|
NM_000540.3(RYR1):c.14392dup (p.Val4798fs)
|
rs1555803803
|
|
NM_000540.3(RYR1):c.14399C>T (p.Ser4800Phe)
|
|
|
NM_000540.3(RYR1):c.1439A>T (p.Glu480Val)
|
rs1967163389
|
|
NM_000540.3(RYR1):c.1440+13C>G
|
|
|
NM_000540.3(RYR1):c.1440+13C>T
|
rs774459267
|
|
NM_000540.3(RYR1):c.1440+145C>T
|
rs60491875
|
|
NM_000540.3(RYR1):c.1440+14G>A
|
|
|
NM_000540.3(RYR1):c.1440+15A>G
|
|
|
NM_000540.3(RYR1):c.1440+19C>A
|
|
|
NM_000540.3(RYR1):c.1440+19C>T
|
|
|
NM_000540.3(RYR1):c.1440+1G>A
|
rs1568445415
|
|
NM_000540.3(RYR1):c.1440+20G>A
|
rs1399913083
|
|
NM_000540.3(RYR1):c.1440+296G>A
|
rs115697801
|
|
NM_000540.3(RYR1):c.1440+296G>T
|
rs115697801
|
|
NM_000540.3(RYR1):c.1440+2T>G
|
rs1555767403
|
|
NM_000540.3(RYR1):c.1440+6G>A
|
|
|
NM_000540.3(RYR1):c.1440+74G>A
|
rs12460768
|
|
NM_000540.3(RYR1):c.1440+7A>G
|
|
|
NM_000540.3(RYR1):c.1440+8C>G
|
rs778505862
|
|
NM_000540.3(RYR1):c.1440+8C>T
|
rs778505862
|
|
NM_000540.3(RYR1):c.1440+9G>C
|
|
|
NM_000540.3(RYR1):c.14410C>T (p.His4804Tyr)
|
rs193922871
|
|
NM_000540.3(RYR1):c.14411A>C (p.His4804Pro)
|
rs1568604308
|
|
NM_000540.3(RYR1):c.14411A>G (p.His4804Arg)
|
rs1568604308
|
|
NM_000540.3(RYR1):c.14414A>G (p.Tyr4805Cys)
|
rs1248772829
|
|
NM_000540.3(RYR1):c.14416A>G (p.Asn4806Asp)
|
rs886039586
|
|
NM_000540.3(RYR1):c.14416AAC[1] (p.Asn4807del)
|
rs2145895047
|
|
NM_000540.3(RYR1):c.14418C>A (p.Asn4806Lys)
|
rs751271794
|
|
NM_000540.3(RYR1):c.14421C>T (p.Asn4807=)
|
|
|
NM_000540.3(RYR1):c.14421CTT[2] (p.Phe4810del)
|
rs1555803810
|
|
NM_000540.3(RYR1):c.14422T>A (p.Phe4808Ile)
|
rs193922872
|
|
NM_000540.3(RYR1):c.14422_14423inv (p.Phe4808Asn)
|
|
|
NM_000540.3(RYR1):c.14423T>A (p.Phe4808Tyr)
|
rs1274780855
|
|
NM_000540.3(RYR1):c.14423T>G (p.Phe4808Cys)
|
rs1274780855
|
|
NM_000540.3(RYR1):c.14424C>A (p.Phe4808Leu)
|
rs780689135
|
|
NM_000540.3(RYR1):c.14424C>G (p.Phe4808Leu)
|
rs780689135
|
|
NM_000540.3(RYR1):c.14424C>T (p.Phe4808=)
|
|
|
NM_000540.3(RYR1):c.14426T>C (p.Phe4809Ser)
|
|
|
NM_000540.3(RYR1):c.14427C>T (p.Phe4809=)
|
|
|
NM_000540.3(RYR1):c.14433T>C (p.Ala4811=)
|
|
|
NM_000540.3(RYR1):c.14437C>T (p.His4813Tyr)
|
rs2145895177
|
|
NM_000540.3(RYR1):c.14438A>G (p.His4813Arg)
|
|
|
NM_000540.3(RYR1):c.14440C>T (p.Leu4814Phe)
|
rs118192142
|
|
NM_000540.3(RYR1):c.14446G>C (p.Asp4816His)
|
rs2145895196
|
|
NM_000540.3(RYR1):c.14447A>G (p.Asp4816Gly)
|
rs1974129338
|
|
NM_000540.3(RYR1):c.14449A>T (p.Ile4817Phe)
|
rs143988412
|
|
NM_000540.3(RYR1):c.14458G>A (p.Gly4820Arg)
|
rs193922873
|
|
NM_000540.3(RYR1):c.14458G>T (p.Gly4820Trp)
|
rs193922873
|
|
NM_000540.3(RYR1):c.14462T>C (p.Val4821Ala)
|
|
|
NM_000540.3(RYR1):c.14469G>T (p.Thr4823=)
|
rs371955808
|
|
NM_000540.3(RYR1):c.14471T>C (p.Leu4824Pro)
|
rs193922874
|
|
NM_000540.3(RYR1):c.14473C>T (p.Arg4825Cys)
|
rs118192180
|
|
NM_000540.3(RYR1):c.14474G>C (p.Arg4825Pro)
|
rs193922875
|
|
NM_000540.3(RYR1):c.14475C>T (p.Arg4825=)
|
rs771061423
|
|
NM_000540.3(RYR1):c.14477C>T (p.Thr4826Ile)
|
rs121918595
|
|
NM_000540.3(RYR1):c.14480T>A (p.Ile4827Asn)
|
rs727504132
|
|
NM_000540.3(RYR1):c.14486C>T (p.Ser4829Phe)
|
rs1268840179
|
|
NM_000540.3(RYR1):c.14487C>T (p.Ser4829=)
|
|
|
NM_000540.3(RYR1):c.14488T>A (p.Ser4830Thr)
|
rs1568604535
|
|
NM_000540.3(RYR1):c.14488T>C (p.Ser4830Pro)
|
|
|
NM_000540.3(RYR1):c.14489C>A (p.Ser4830Tyr)
|
rs1555803852
|
|
NM_000540.3(RYR1):c.14490dup (p.Val4831fs)
|
rs2145895408
|
|
NM_000540.3(RYR1):c.14493C>T (p.Val4831=)
|
|
|
NM_000540.3(RYR1):c.14495C>A (p.Thr4832Asn)
|
rs1057520711
|
|
NM_000540.3(RYR1):c.14496C>A (p.Thr4832=)
|
|
|
NM_000540.3(RYR1):c.14497C>T (p.His4833Tyr)
|
rs193922876
|
|
NM_000540.3(RYR1):c.14508A>G (p.Lys4836=)
|
|
|
NM_000540.3(RYR1):c.14509C>A (p.Gln4837Lys)
|
rs1568604577
|
|
NM_000540.3(RYR1):c.14509C>G (p.Gln4837Glu)
|
rs1568604577
|
|
NM_000540.3(RYR1):c.14510del (p.Gln4837fs)
|
rs193922877
|
|
NM_000540.3(RYR1):c.14511+13C>T
|
|
|
NM_000540.3(RYR1):c.14511+14_14511+15insAGG
|
|
|
NM_000540.3(RYR1):c.14511+16G>A
|
|
|
NM_000540.3(RYR1):c.14511+17G>C
|
|
|
NM_000540.3(RYR1):c.14511+8G>A
|
rs748627354
|
|
NM_000540.3(RYR1):c.14511+9A>T
|
|
|
NM_000540.3(RYR1):c.14512-11C>T
|
|
|
NM_000540.3(RYR1):c.14512-19G>A
|
|
|
NM_000540.3(RYR1):c.14512-5C>T
|
|
|
NM_000540.3(RYR1):c.14512-8G>T
|
rs745914262
|
|
NM_000540.3(RYR1):c.14512C>G (p.Leu4838Val)
|
rs193922878
|
|
NM_000540.3(RYR1):c.14515G>C (p.Val4839Leu)
|
rs1974145234
|
|
NM_000540.3(RYR1):c.14518A>T (p.Met4840Leu)
|
rs933599635
|
|
NM_000540.3(RYR1):c.14519T>G (p.Met4840Arg)
|
rs1568604966
|
|
NM_000540.3(RYR1):c.14526G>A (p.Val4842=)
|
|
|
NM_000540.3(RYR1):c.14528_14536del (p.Gly4843_Leu4845del)
|
rs2145896356
|
|
NM_000540.3(RYR1):c.14531T>C (p.Leu4844Pro)
|
|
|
NM_000540.3(RYR1):c.14533C>A (p.Leu4845Met)
|
rs2145896369
|
|
NM_000540.3(RYR1):c.14536G>C (p.Ala4846Pro)
|
rs1974146322
|
|
NM_000540.3(RYR1):c.14537C>T (p.Ala4846Val)
|
rs118192143
|
|
NM_000540.3(RYR1):c.14538GGT[1] (p.Val4849del)
|
rs1555803920
|
|
NM_000540.3(RYR1):c.14539G>C (p.Val4847Leu)
|
rs1568605042
|
|
NM_000540.3(RYR1):c.14542G>C (p.Val4848Leu)
|
rs2145896441
|
|
NM_000540.3(RYR1):c.14545G>T (p.Val4849Phe)
|
rs118192168
|
|
NM_000540.3(RYR1):c.14545_14571dup (p.Val4849_Phe4857dup)
|
rs1568605049
|
|
NM_000540.3(RYR1):c.14548T>C (p.Tyr4850His)
|
rs2145896491
|
|
NM_000540.3(RYR1):c.14552T>C (p.Leu4851Pro)
|
rs1085307631
|
|
NM_000540.3(RYR1):c.14553G>A (p.Leu4851=)
|
|
|
NM_000540.3(RYR1):c.14555A>G (p.Tyr4852Cys)
|
rs886042826
|
|
NM_000540.3(RYR1):c.14558C>A (p.Thr4853Asn)
|
|
|
NM_000540.3(RYR1):c.14558C>T (p.Thr4853Ile)
|
rs1555803922
|
|
NM_000540.3(RYR1):c.14559C>G (p.Thr4853=)
|
|
|
NM_000540.3(RYR1):c.14559C>T (p.Thr4853=)
|
rs570469685
|
|
NM_000540.3(RYR1):c.14561TGG[1] (p.Val4855del)
|
rs1599665089
|
|
NM_000540.3(RYR1):c.14564T>A (p.Val4855Glu)
|
rs1974148419
|
|
NM_000540.3(RYR1):c.14566G>A (p.Ala4856Thr)
|
rs2145896601
|
|
NM_000540.3(RYR1):c.14567C>G (p.Ala4856Gly)
|
rs193922880
|
|
NM_000540.3(RYR1):c.14569T>C (p.Phe4857Leu)
|
rs2145896622
|
|
NM_000540.3(RYR1):c.14570T>A (p.Phe4857Tyr)
|
rs1974148669
|
|
NM_000540.3(RYR1):c.14570T>C (p.Phe4857Ser)
|
rs1974148669
|
|
NM_000540.3(RYR1):c.14570T>G (p.Phe4857Cys)
|
|
|
NM_000540.3(RYR1):c.14572A>G (p.Asn4858Asp)
|
rs118192144
|
|
NM_000540.3(RYR1):c.14573A>G (p.Asn4858Ser)
|
rs1555803933
|
|
NM_000540.3(RYR1):c.14575TTC[1] (p.Phe4860del)
|
rs118192145
|
|
NM_000540.3(RYR1):c.14578T>G (p.Phe4860Val)
|
rs193922881
|
|
NM_000540.3(RYR1):c.14579T>C (p.Phe4860Ser)
|
rs1599665128
|
|
NM_000540.3(RYR1):c.14579_14580delinsAA (p.Phe4860Ter)
|
rs1555803960
|
|
NM_000540.3(RYR1):c.14580C>T (p.Phe4860=)
|
|
|
NM_000540.3(RYR1):c.14581C>A (p.Arg4861Ser)
|
|
|
NM_000540.3(RYR1):c.14581C>G (p.Arg4861Gly)
|
rs118192181
|
|
NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys)
|
rs118192181
|
|
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His)
|
rs63749869
|
|
NM_000540.3(RYR1):c.14582G>C (p.Arg4861Pro)
|
rs63749869
|
|
NM_000540.3(RYR1):c.14583C>A (p.Arg4861=)
|
|
|
NM_000540.3(RYR1):c.14585A>C (p.Lys4862Thr)
|
rs1568605182
|
|
NM_000540.3(RYR1):c.14587T>C (p.Phe4863Leu)
|
|
|
NM_000540.3(RYR1):c.14587T>G (p.Phe4863Val)
|
rs2145896745
|
|
NM_000540.3(RYR1):c.14587_14607del (p.Phe4863_Asp4869del)
|
rs118192169
|
|
NM_000540.3(RYR1):c.14588_14605del (p.Phe4863_Asp4869delinsTyr)
|
rs193922882
|
|
NM_000540.3(RYR1):c.14590_14592del (p.Tyr4864del)
|
rs1974150661
|
|
NM_000540.3(RYR1):c.14591A>C (p.Tyr4864Ser)
|
rs118192146
|
|
NM_000540.3(RYR1):c.14591A>G (p.Tyr4864Cys)
|
rs118192146
|
|
NM_000540.3(RYR1):c.14592CAA[1] (p.Asn4865del)
|
rs2145896801
|
|
NM_000540.3(RYR1):c.14594A>G (p.Asn4865Ser)
|
|
|
NM_000540.3(RYR1):c.14596A>G (p.Lys4866Glu)
|
|
|
NM_000540.3(RYR1):c.14598G>C (p.Lys4866Asn)
|
rs1568605238
|
|
NM_000540.3(RYR1):c.14599A>G (p.Ser4867Gly)
|
|
|
NM_000540.3(RYR1):c.14600G>A (p.Ser4867Asn)
|
rs587784373
|
|
NM_000540.3(RYR1):c.14610G>A (p.Glu4870=)
|
|
|
NM_000540.3(RYR1):c.14616_14621dup (p.Glu4872_Pro4873dup)
|
rs1555804000
|
|
NM_000540.3(RYR1):c.14623A>C (p.Met4875Leu)
|
rs1974153045
|
|
NM_000540.3(RYR1):c.14624T>A (p.Met4875Lys)
|
|
|
NM_000540.3(RYR1):c.14625G>T (p.Met4875Ile)
|
|
|
NM_000540.3(RYR1):c.14626A>G (p.Lys4876Glu)
|
rs1568605325
|
|
NM_000540.3(RYR1):c.14627A>G (p.Lys4876Arg)
|
rs113210953
|
|
NM_000540.3(RYR1):c.14628G>C (p.Lys4876Asn)
|
rs1395234830
|
|
NM_000540.3(RYR1):c.14630G>A (p.Cys4877Tyr)
|
|
|
NM_000540.3(RYR1):c.14632G>A (p.Asp4878Asn)
|
rs1443223174
|
|
NM_000540.3(RYR1):c.14637C>G (p.Asp4879Glu)
|
rs1599665324
|
|
NM_000540.3(RYR1):c.14639T>A (p.Met4880Lys)
|
rs193922883
|
|
NM_000540.3(RYR1):c.14639T>C (p.Met4880Thr)
|
rs193922883
|
|
NM_000540.3(RYR1):c.14642T>C (p.Met4881Thr)
|
rs1568605367
|
|
NM_000540.3(RYR1):c.14643G>T (p.Met4881Ile)
|
rs376677576
|
|
NM_000540.3(RYR1):c.14646+12C>A
|
|
|
NM_000540.3(RYR1):c.14646+12C>G
|
|
|
NM_000540.3(RYR1):c.14646+12C>T
|
|
|
NM_000540.3(RYR1):c.14646+14C>G
|
|
|
NM_000540.3(RYR1):c.14646+17G>A
|
|
|
NM_000540.3(RYR1):c.14646G>A (p.Thr4882=)
|
rs536148030
|
|
NM_000540.3(RYR1):c.14647-11C>T
|
|
|
NM_000540.3(RYR1):c.14647-1397del
|
rs200280451
|
|
NM_000540.3(RYR1):c.14647-13T>C
|
|
|
NM_000540.3(RYR1):c.14647-1447_14647-1446del
|
rs1275854388
|
|
NM_000540.3(RYR1):c.14647-1449A>T
|
|
|
NM_000540.3(RYR1):c.14647-1450C>A
|
rs964353728
|
|
NM_000540.3(RYR1):c.14647-1450_14647-1449del
|
rs1383477464
|
|
NM_000540.3(RYR1):c.14647-1451del
|
rs11325385
|
|
NM_000540.3(RYR1):c.14647-14C>T
|
|
|
NM_000540.3(RYR1):c.14647-15_14649del
|
rs1599673988
|
|
NM_000540.3(RYR1):c.14647-1630del
|
rs1195725551
|
|
NM_000540.3(RYR1):c.14647-1876C>T
|
rs193922885
|
|
NM_000540.3(RYR1):c.14647-18T>C
|
|
|
NM_000540.3(RYR1):c.14647-19G>A
|
|
|
NM_000540.3(RYR1):c.14647-3C>G
|
rs1974401494
|
|
NM_000540.3(RYR1):c.14647-3C>T
|
rs1974401494
|
|
NM_000540.3(RYR1):c.14647-3_14647del
|
rs1568611362
|
|
NM_000540.3(RYR1):c.14647-60C>T
|
rs7507518
|
|
NM_000540.3(RYR1):c.14647-9C>T
|
rs1482129515
|
|
NM_000540.3(RYR1):c.14647T>A (p.Cys4883Ser)
|
rs1568611375
|
|
NM_000540.3(RYR1):c.14649T>C (p.Cys4883=)
|
|
|
NM_000540.3(RYR1):c.14650T>C (p.Tyr4884His)
|
rs2145912840
|
|
NM_000540.3(RYR1):c.14652C>T (p.Tyr4884=)
|
|
|
NM_000540.3(RYR1):c.14653C>T (p.Leu4885=)
|
|
|
NM_000540.3(RYR1):c.14658T>C (p.Phe4886=)
|
|
|
NM_000540.3(RYR1):c.14659C>T (p.His4887Tyr)
|
rs118192147
|
|
NM_000540.3(RYR1):c.14660A>T (p.His4887Leu)
|
rs1568611398
|
|
NM_000540.3(RYR1):c.14667C>A (p.Tyr4889Ter)
|
rs193922887
|
|
NM_000540.3(RYR1):c.14667C>G (p.Tyr4889Ter)
|
rs193922887
|
|
NM_000540.3(RYR1):c.14671G>C (p.Gly4891Arg)
|
rs118192149
|
|
NM_000540.3(RYR1):c.14672G>A (p.Gly4891Asp)
|
rs398123470
|
|
NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp)
|
rs118192150
|
|
NM_000540.3(RYR1):c.14678G>A (p.Arg4893Gln)
|
rs118192151
|
|
NM_000540.3(RYR1):c.14678G>C (p.Arg4893Pro)
|
rs118192151
|
|
NM_000540.3(RYR1):c.14678G>T (p.Arg4893Leu)
|
|
|
NM_000540.3(RYR1):c.14679G>A (p.Arg4893=)
|
|
|
NM_000540.3(RYR1):c.14680G>A (p.Ala4894Thr)
|
rs193922888
|
|
NM_000540.3(RYR1):c.14680G>C (p.Ala4894Pro)
|
rs193922888
|
|
NM_000540.3(RYR1):c.14681C>A (p.Ala4894Asp)
|
rs193922890
|
|
NM_000540.3(RYR1):c.14681C>T (p.Ala4894Val)
|
rs193922890
|
|
NM_000540.3(RYR1):c.14684G>T (p.Gly4895Val)
|
rs1599674179
|
|
NM_000540.3(RYR1):c.14686G>A (p.Gly4896Arg)
|
rs1568611478
|
|
NM_000540.3(RYR1):c.14687G>A (p.Gly4896Glu)
|
rs1599674197
|
|
NM_000540.3(RYR1):c.14690G>A (p.Gly4897Asp)
|
rs118192148
|
|
NM_000540.3(RYR1):c.14690G>T (p.Gly4897Val)
|
rs118192148
|
|
NM_000540.3(RYR1):c.14693T>A (p.Ile4898Asn)
|
rs118192170
|
|
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr)
|
rs118192170
|
|
NM_000540.3(RYR1):c.14693T>G (p.Ile4898Ser)
|
|
|
NM_000540.3(RYR1):c.14695G>A (p.Gly4899Arg)
|
rs193922891
|
|
NM_000540.3(RYR1):c.14696G>A (p.Gly4899Glu)
|
rs118192183
|
|
NM_000540.3(RYR1):c.14702_14716dup (p.Pro4905_Ala4906insGluIleGluAspPro)
|
|
|
NM_000540.3(RYR1):c.14705T>C (p.Ile4902Thr)
|
rs1555805287
|
|
NM_000540.3(RYR1):c.14709G>C (p.Glu4903Asp)
|
rs557624321
|
|
NM_000540.3(RYR1):c.14712C>T (p.Asp4904=)
|
|
|
NM_000540.3(RYR1):c.14713C>A (p.Pro4905Thr)
|
rs1057518924
|
|
NM_000540.3(RYR1):c.14713C>T (p.Pro4905Ser)
|
|
|
NM_000540.3(RYR1):c.14717C>T (p.Ala4906Val)
|
rs118192153
|
|
NM_000540.3(RYR1):c.14725G>A (p.Glu4909Lys)
|
|
|
NM_000540.3(RYR1):c.14731G>A (p.Glu4911Lys)
|
rs886044196
|
|
NM_000540.3(RYR1):c.14733G>A (p.Glu4911=)
|
|
|
NM_000540.3(RYR1):c.14735T>C (p.Leu4912Pro)
|
|
|
NM_000540.3(RYR1):c.14737T>A (p.Tyr4913Asn)
|
|
|
NM_000540.3(RYR1):c.14738A>G (p.Tyr4913Cys)
|
rs1429521079
|
|
NM_000540.3(RYR1):c.14739C>T (p.Tyr4913=)
|
|
|
NM_000540.3(RYR1):c.14740A>G (p.Arg4914Gly)
|
rs118192184
|
|
NM_000540.3(RYR1):c.14741G>C (p.Arg4914Thr)
|
rs118192154
|
|
NM_000540.3(RYR1):c.14749T>A (p.Phe4917Ile)
|
|
|
NM_000540.3(RYR1):c.14749T>C (p.Phe4917Leu)
|
rs1599674419
|
|
NM_000540.3(RYR1):c.14751C>A (p.Phe4917Leu)
|
|
|
NM_000540.3(RYR1):c.14752G>A (p.Asp4918Asn)
|
rs1469916243
|
|
NM_000540.3(RYR1):c.14754C>T (p.Asp4918=)
|
rs1974409110
|
|
NM_000540.3(RYR1):c.14757C>T (p.Ile4919=)
|
rs772118920
|
|
NM_000540.3(RYR1):c.14758_14778dup (p.Ile4926_Val4927insThrPhePhePhePheValIle)
|
|
|
NM_000540.3(RYR1):c.14759C>A (p.Thr4920Asn)
|
rs118192155
|
|
NM_000540.3(RYR1):c.14759C>T (p.Thr4920Ile)
|
rs118192155
|
|
NM_000540.3(RYR1):c.14760C>G (p.Thr4920=)
|
|
|
NM_000540.3(RYR1):c.14760C>T (p.Thr4920=)
|
|
|
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del)
|
rs1064794572
|
|
NM_000540.3(RYR1):c.14761TTC[5] (p.Phe4924dup)
|
rs1064794572
|
|
NM_000540.3(RYR1):c.14761TTC[6] (p.Phe4924_Val4925insPhePhe)
|
|
|
NM_000540.3(RYR1):c.14761_14762delinsAC (p.Phe4921Thr)
|
rs118192171
|
|
NM_000540.3(RYR1):c.14762T>C (p.Phe4921Ser)
|
rs118192156
|
|
NM_000540.3(RYR1):c.14763C>G (p.Phe4921Leu)
|
rs1974410266
|
|
NM_000540.3(RYR1):c.14766C>A (p.Phe4922Leu)
|
rs1599674487
|
|
NM_000540.3(RYR1):c.14766C>G (p.Phe4922Leu)
|
rs1599674487
|
|
NM_000540.3(RYR1):c.14773G>A (p.Val4925Ile)
|
rs959737076
|
|
NM_000540.3(RYR1):c.14773GTCATC[1] (p.4925VI[1])
|
rs193922893
|
|
NM_000540.3(RYR1):c.14776_14778del (p.Ile4926del)
|
|
|
NM_000540.3(RYR1):c.14778C>T (p.Ile4926=)
|
|
|
NM_000540.3(RYR1):c.14779G>A (p.Val4927Ile)
|
|
|
NM_000540.3(RYR1):c.14779G>T (p.Val4927Phe)
|
rs193922892
|
|
NM_000540.3(RYR1):c.14783T>A (p.Ile4928Asn)
|
|
|
NM_000540.3(RYR1):c.14789T>C (p.Leu4930Ser)
|
|
|
NM_000540.3(RYR1):c.14789del (p.Leu4930fs)
|
|
|
NM_000540.3(RYR1):c.14790G>A (p.Leu4930=)
|
|
|
NM_000540.3(RYR1):c.14792C>A (p.Ala4931Asp)
|
rs546322293
|
|
NM_000540.3(RYR1):c.14801A>G (p.Gln4934Arg)
|
rs1568611775
|
|
NM_000540.3(RYR1):c.14801A>T (p.Gln4934Leu)
|
|
|
NM_000540.3(RYR1):c.14802G>C (p.Gln4934His)
|
rs1555805334
|
|
NM_000540.3(RYR1):c.14803+12G>A
|
|
|
NM_000540.3(RYR1):c.14803+18dup
|
|
|
NM_000540.3(RYR1):c.14803+19C>A
|
|
|
NM_000540.3(RYR1):c.14803+19C>T
|
|
|
NM_000540.3(RYR1):c.14803+20G>A
|
|
|
NM_000540.3(RYR1):c.14803+271AT[10]
|
rs3039200
|
|
NM_000540.3(RYR1):c.14803+271AT[11]
|
rs3039200
|
|
NM_000540.3(RYR1):c.14803+271AT[12]
|
rs3039200
|
|
NM_000540.3(RYR1):c.14803+296TA[4]
|
rs200089543
|
|
NM_000540.3(RYR1):c.14803+312dup
|
rs1046431265
|
|
NM_000540.3(RYR1):c.14803+5G>C
|
rs1599674587
|
|
NM_000540.3(RYR1):c.14803G>A (p.Gly4935Ser)
|
rs2145913747
|
|
NM_000540.3(RYR1):c.14804-13C>A
|
|
|
NM_000540.3(RYR1):c.14804-1G>T
|
rs193922894
|
|
NM_000540.3(RYR1):c.14804-6C>T
|
|
|
NM_000540.3(RYR1):c.14804G>A (p.Gly4935Asp)
|
|
|
NM_000540.3(RYR1):c.14807T>G (p.Leu4936Arg)
|
rs1568613061
|
|
NM_000540.3(RYR1):c.14809A>G (p.Ile4937Val)
|
rs2145917369
|
|
NM_000540.3(RYR1):c.14811C>G (p.Ile4937Met)
|
rs2145917373
|
|
NM_000540.3(RYR1):c.14812A>G (p.Ile4938Val)
|
rs1599676533
|
|
NM_000540.3(RYR1):c.14813T>C (p.Ile4938Thr)
|
rs111657878
|
|
NM_000540.3(RYR1):c.14814C>G (p.Ile4938Met)
|
rs118192159
|
|
NM_000540.3(RYR1):c.14815G>A (p.Asp4939Asn)
|
rs760010175
|
|
NM_000540.3(RYR1):c.14815G>T (p.Asp4939Tyr)
|
|
|
NM_000540.3(RYR1):c.14817C>A (p.Asp4939Glu)
|
rs193922895
|
|
NM_000540.3(RYR1):c.14817C>G (p.Asp4939Glu)
|
rs193922895
|
|
NM_000540.3(RYR1):c.14819C>T (p.Ala4940Val)
|
rs1568613107
|
|
NM_000540.3(RYR1):c.14822T>G (p.Phe4941Cys)
|
rs1568613113
|
|
NM_000540.3(RYR1):c.14825G>T (p.Gly4942Val)
|
rs193922896
|
|
NM_000540.3(RYR1):c.14832C>T (p.Leu4944=)
|
|
|
NM_000540.3(RYR1):c.14834G>A (p.Arg4945Gln)
|
rs2145917486
|
|
NM_000540.3(RYR1):c.14842C>A (p.Gln4948Lys)
|
rs1555805633
|
|
NM_000540.3(RYR1):c.14843A>G (p.Gln4948Arg)
|
rs1974467952
|
|
NM_000540.3(RYR1):c.14845G>T (p.Glu4949Ter)
|
|
|
NM_000540.3(RYR1):c.14847G>A (p.Glu4949=)
|
|
|
NM_000540.3(RYR1):c.14852T>G (p.Val4951Gly)
|
|
|
NM_000540.3(RYR1):c.14868+14G>A
|
|
|
NM_000540.3(RYR1):c.14868+17G>T
|
|
|
NM_000540.3(RYR1):c.14868+18G>A
|
|
|
NM_000540.3(RYR1):c.14868+1G>C
|
rs751692413
|
|
NM_000540.3(RYR1):c.14868+8A>T
|
|
|
NM_000540.3(RYR1):c.14869-14C>G
|
|
|
NM_000540.3(RYR1):c.14869-16C>T
|
|
|
NM_000540.3(RYR1):c.14869-1G>C
|
rs193922897
|
|
NM_000540.3(RYR1):c.14869-1G>T
|
rs193922897
|
|
NM_000540.3(RYR1):c.14869-2A>G
|
|
|
NM_000540.3(RYR1):c.14869-4A>G
|
|
|
NM_000540.3(RYR1):c.14869-8A>T
|
|
|
NM_000540.3(RYR1):c.14879T>A (p.Phe4960Tyr)
|
rs193922898
|
|
NM_000540.3(RYR1):c.14892C>A (p.Ile4964=)
|
rs2302297
|
|
NM_000540.3(RYR1):c.14895C>T (p.Gly4965=)
|
|
|
NM_000540.3(RYR1):c.14902T>C (p.Tyr4968His)
|
|
|
NM_000540.3(RYR1):c.14904C>A (p.Tyr4968Ter)
|
rs2145918040
|
|
NM_000540.3(RYR1):c.14904C>T (p.Tyr4968=)
|
rs2145918040
|
|
NM_000540.3(RYR1):c.14913G>C (p.Thr4971=)
|
|
|
NM_000540.3(RYR1):c.14925C>G (p.Gly4975=)
|
|
|
NM_000540.3(RYR1):c.14928C>A (p.Phe4976Leu)
|
|
|
NM_000540.3(RYR1):c.14928C>T (p.Phe4976=)
|
rs368874586
|
|
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.14940G>C (p.Thr4980=)
|
|
|
NM_000540.3(RYR1):c.14949G>A (p.Glu4983=)
|
|
|
NM_000540.3(RYR1):c.14956C>T (p.Leu4986=)
|
|
|
NM_000540.3(RYR1):c.14961C>T (p.Ala4987=)
|
|
|
NM_000540.3(RYR1):c.14963A>G (p.Asn4988Ser)
|
rs2145918298
|
|
NM_000540.3(RYR1):c.14968A>G (p.Met4990Val)
|
rs2145918316
|
|
NM_000540.3(RYR1):c.14969+14C>T
|
|
|
NM_000540.3(RYR1):c.14969+19C>A
|
|
|
NM_000540.3(RYR1):c.14969+91_14969+96del
|
rs143087507
|
|
NM_000540.3(RYR1):c.14969+9A>G
|
|
|
NM_000540.3(RYR1):c.14970-14C>T
|
|
|
NM_000540.3(RYR1):c.14970-19G>A
|
|
|
NM_000540.3(RYR1):c.14970-1G>A
|
|
|
NM_000540.3(RYR1):c.14970-4T>C
|
|
|
NM_000540.3(RYR1):c.14970-4T>G
|
rs1555805790
|
|
NM_000540.3(RYR1):c.14970-7C>T
|
|
|
NM_000540.3(RYR1):c.14970-9C>T
|
|
|
NM_000540.3(RYR1):c.14970G>T (p.Met4990Ile)
|
rs2145919457
|
|
NM_000540.3(RYR1):c.14981T>C (p.Met4994Thr)
|
rs886054412
|
|
NM_000540.3(RYR1):c.14989A>G (p.Ile4997Val)
|
rs2145919519
|
|
NM_000540.3(RYR1):c.15016G>A (p.Gly5006Ser)
|
rs1568614042
|
|
NM_000540.3(RYR1):c.15017G>A (p.Gly5006Asp)
|
rs1555805797
|
|
NM_000540.3(RYR1):c.15017G>C (p.Gly5006Ala)
|
rs1555805797
|
|
NM_000540.3(RYR1):c.15020A>G (p.Gln5007Arg)
|
|
|
NM_000540.3(RYR1):c.15021+11G>A
|
|
|
NM_000540.3(RYR1):c.15021+12T>G
|
|
|
NM_000540.3(RYR1):c.15021+15A>G
|
|
|
NM_000540.3(RYR1):c.15021+37G>T
|
rs73032657
|
|
NM_000540.3(RYR1):c.15021+9G>A
|
|
|
NM_000540.3(RYR1):c.15022-12C>G
|
|
|
NM_000540.3(RYR1):c.15022-12C>T
|
|
|
NM_000540.3(RYR1):c.15022-13T>C
|
|
|
NM_000540.3(RYR1):c.15022-16C>T
|
|
|
NM_000540.3(RYR1):c.15022-4C>T
|
|
|
NM_000540.3(RYR1):c.15022-69AT[10]
|
rs60733320
|
|
NM_000540.3(RYR1):c.15022-69AT[9]
|
rs60733320
|
|
NM_000540.3(RYR1):c.15022-6T>C
|
|
|
NM_000540.3(RYR1):c.15022-7A>G
|
rs1281576269
|
|
NM_000540.3(RYR1):c.15030T>A (p.Tyr5010Ter)
|
rs1064797243
|
|
NM_000540.3(RYR1):c.15034T>A (p.Trp5012Arg)
|
rs1974542909
|
|
NM_000540.3(RYR1):c.15035G>A (p.Trp5012Ter)
|
|
|
NM_000540.3(RYR1):c.15036G>T (p.Trp5012Cys)
|
|
|
NM_000540.3(RYR1):c.15041T>G (p.Met5014Arg)
|
rs2145921970
|
|
NM_000540.3(RYR1):c.15047_15048del (p.Gln5016fs)
|
rs1555806119
|
|
NM_000540.3(RYR1):c.15056G>A (p.Cys5019Tyr)
|
rs2145922036
|
|
NM_000540.3(RYR1):c.15056G>T (p.Cys5019Phe)
|
|
|
NM_000540.3(RYR1):c.15056_15061del (p.Cys5019_Asp5021delinsTyr)
|
rs1974544557
|
|
NM_000540.3(RYR1):c.15059G>C (p.Trp5020Ser)
|
rs2145922063
|
|
NM_000540.3(RYR1):c.15060G>C (p.Trp5020Cys)
|
rs2145922066
|
|
NM_000540.3(RYR1):c.15063T>C (p.Asp5021=)
|
rs2145922088
|
|
NM_000540.3(RYR1):c.15073G>A (p.Ala5025Thr)
|
rs1057519258
|
|
NM_000540.3(RYR1):c.15074C>G (p.Ala5025Gly)
|
rs2145922134
|
|
NM_000540.3(RYR1):c.15077_15079del (p.Gly5026del)
|
|
|
NM_000540.3(RYR1):c.15087C>T (p.Phe5029=)
|
|
|
NM_000540.3(RYR1):c.15098A>G (p.Tyr5033Cys)
|
rs201765762
|
|
NM_000540.3(RYR1):c.15099T>C (p.Tyr5033=)
|
rs751549832
|
|
NM_000540.3(RYR1):c.15099T>G (p.Tyr5033Ter)
|
|
|
NM_000540.3(RYR1):c.15105C>T (p.Asp5035=)
|
rs1599679842
|
|
NM_000540.3(RYR1):c.15109C>G (p.Leu5037Val)
|
rs140584202
|
|
NM_000540.3(RYR1):c.15109C>T (p.Leu5037Phe)
|
|
|
NM_000540.3(RYR1):c.15114C>T (p.Ser5038=)
|
rs1599679866
|
|
NM_000540.3(RYR1):c.15115T>A (p.Ter5039Arg)
|
rs1555806206
|
|
NM_000540.3(RYR1):c.15117AC[2] (p.Ter5039=)
|
rs773663760
|
|
NM_000540.3(RYR1):c.1563C>G (p.Leu521=)
|
rs2145393929
|
|
NM_000540.3(RYR1):c.1565A>C (p.Tyr522Ser)
|
rs118192162
|
|
NM_000540.3(RYR1):c.1565A>G (p.Tyr522Cys)
|
rs118192162
|
|
NM_000540.3(RYR1):c.156C>G (p.Ser52Arg)
|
rs2145321042
|
|
NM_000540.3(RYR1):c.1573C>T (p.Leu525=)
|
|
|
NM_000540.3(RYR1):c.1576+12A>T
|
|
|
NM_000540.3(RYR1):c.1576+15C>T
|
|
|
NM_000540.3(RYR1):c.1576+1G>A
|
rs2145393963
|
|
NM_000540.3(RYR1):c.1576+9C>A
|
rs1363022680
|
|
NM_000540.3(RYR1):c.1577-10C>T
|
|
|
NM_000540.3(RYR1):c.1577-15C>T
|
|
|
NM_000540.3(RYR1):c.1577-20G>C
|
|
|
NM_000540.3(RYR1):c.1577-4dup
|
rs1555768357
|
|
NM_000540.3(RYR1):c.1577-5C>A
|
rs778100574
|
|
NM_000540.3(RYR1):c.1577-6C>A
|
rs61586345
|
|
NM_000540.3(RYR1):c.1577-6C>T
|
rs61586345
|
|
NM_000540.3(RYR1):c.1577-7C>G
|
|
|
NM_000540.3(RYR1):c.1577-8C>T
|
|
|
NM_000540.3(RYR1):c.1577-9C>T
|
|
|
NM_000540.3(RYR1):c.1581T>A (p.Ser527=)
|
rs1383871921
|
|
NM_000540.3(RYR1):c.1582C>A (p.Leu528Ile)
|
rs2145394521
|
|
NM_000540.3(RYR1):c.1588C>A (p.Arg530Ser)
|
rs757399861
|
|
NM_000540.3(RYR1):c.1588C>T (p.Arg530Cys)
|
rs757399861
|
|
NM_000540.3(RYR1):c.1589G>T (p.Arg530Leu)
|
rs111888148
|
|
NM_000540.3(RYR1):c.1597C>A (p.Arg533Ser)
|
rs193922768
|
|
NM_000540.3(RYR1):c.1598G>T (p.Arg533Leu)
|
|
|
NM_000540.3(RYR1):c.159C>A (p.Asn53Lys)
|
|
|
NM_000540.3(RYR1):c.1602C>T (p.Ser534=)
|
|
|
NM_000540.3(RYR1):c.1605C>A (p.Asn535Lys)
|
|
|
NM_000540.3(RYR1):c.1605C>T (p.Asn535=)
|
|
|
NM_000540.3(RYR1):c.1609G>A (p.Ala537Thr)
|
rs774229699
|
|
NM_000540.3(RYR1):c.1613T>A (p.Leu538His)
|
|
|
NM_000540.3(RYR1):c.1615T>C (p.Phe539Leu)
|
rs193922769
|
|
NM_000540.3(RYR1):c.1615T>G (p.Phe539Val)
|
rs193922769
|
|
NM_000540.3(RYR1):c.161C>A (p.Ala54Glu)
|
rs1032364286
|
|
NM_000540.3(RYR1):c.161C>T (p.Ala54Val)
|
rs1032364286
|
|
NM_000540.3(RYR1):c.1620C>T (p.Ser540=)
|
|
|
NM_000540.3(RYR1):c.1622C>G (p.Thr541Arg)
|
rs1600675641
|
|
NM_000540.3(RYR1):c.1626C>T (p.Asn542=)
|
|
|
NM_000540.3(RYR1):c.1627T>G (p.Leu543Val)
|
rs946863283
|
|
NM_000540.3(RYR1):c.1630G>T (p.Asp544Tyr)
|
rs113812662
|
|
NM_000540.3(RYR1):c.1632C>G (p.Asp544Glu)
|
rs1568448011
|
|
NM_000540.3(RYR1):c.1633T>A (p.Trp545Arg)
|
|
|
NM_000540.3(RYR1):c.1640T>C (p.Val547Ala)
|
|
|
NM_000540.3(RYR1):c.1641C>T (p.Val547=)
|
|
|
NM_000540.3(RYR1):c.164_165+1del
|
|
|
NM_000540.3(RYR1):c.165+10G>A
|
|
|
NM_000540.3(RYR1):c.165+15G>C
|
|
|
NM_000540.3(RYR1):c.165+169G>A
|
rs2304146
|
|
NM_000540.3(RYR1):c.165+1G>A
|
|
|
NM_000540.3(RYR1):c.165+20G>A
|
|
|
NM_000540.3(RYR1):c.165+5G>T
|
rs371043203
|
|
NM_000540.3(RYR1):c.165+7G>T
|
|
|
NM_000540.3(RYR1):c.165+8C>T
|
|
|
NM_000540.3(RYR1):c.1654C>A (p.Arg552=)
|
rs193922770
|
|
NM_000540.3(RYR1):c.1654C>T (p.Arg552Trp)
|
rs193922770
|
|
NM_000540.3(RYR1):c.1659_1660delinsTT (p.Glu554Ter)
|
|
|
NM_000540.3(RYR1):c.166-10C>T
|
|
|
NM_000540.3(RYR1):c.166-15C>A
|
|
|
NM_000540.3(RYR1):c.166-15C>T
|
|
|
NM_000540.3(RYR1):c.166-16C>A
|
|
|
NM_000540.3(RYR1):c.166-19C>T
|
|
|
NM_000540.3(RYR1):c.166-2A>C
|
|
|
NM_000540.3(RYR1):c.166-3dup
|
rs745926203
|
|
NM_000540.3(RYR1):c.166-45G>T
|
rs755530044
|
|
NM_000540.3(RYR1):c.166-9C>T
|
|
|
NM_000540.3(RYR1):c.1662G>T (p.Glu554Asp)
|
rs1967327642
|
|
NM_000540.3(RYR1):c.1663G>A (p.Ala555Thr)
|
rs1225397962
|
|
NM_000540.3(RYR1):c.1663G>T (p.Ala555Ser)
|
|
|
NM_000540.3(RYR1):c.1667_1668delinsTA (p.Ser556Leu)
|
|
|
NM_000540.3(RYR1):c.1668_1669delinsAA (p.Ser557Thr)
|
|
|
NM_000540.3(RYR1):c.1669T>A (p.Ser557Thr)
|
|
|
NM_000540.3(RYR1):c.1670C>T (p.Ser557Phe)
|
rs1967329033
|
|
NM_000540.3(RYR1):c.1672+10C>A
|
rs751878748
|
|
NM_000540.3(RYR1):c.1672+10C>G
|
|
|
NM_000540.3(RYR1):c.1672+12C>G
|
rs757639147
|
|
NM_000540.3(RYR1):c.1672+12C>T
|
|
|
NM_000540.3(RYR1):c.1672+13G>C
|
|
|
NM_000540.3(RYR1):c.1672+14G>A
|
|
|
NM_000540.3(RYR1):c.1672+19G>A
|
|
|
NM_000540.3(RYR1):c.1672+29G>C
|
rs2288889
|
|
NM_000540.3(RYR1):c.1672+5G>A
|
|
|
NM_000540.3(RYR1):c.1672+9A>G
|
|
|
NM_000540.3(RYR1):c.1673-11C>T
|
rs1057524149
|
|
NM_000540.3(RYR1):c.1673-16C>T
|
|
|
NM_000540.3(RYR1):c.1673-19A>G
|
|
|
NM_000540.3(RYR1):c.1673-1G>A
|
|
|
NM_000540.3(RYR1):c.1673-5G>A
|
|
|
NM_000540.3(RYR1):c.1673-9C>A
|
|
|
NM_000540.3(RYR1):c.1673-9C>T
|
|
|
NM_000540.3(RYR1):c.1675dup (p.Ile559fs)
|
rs1475149579
|
|
NM_000540.3(RYR1):c.1680G>A (p.Leu560=)
|
|
|
NM_000540.3(RYR1):c.1683G>A (p.Glu561=)
|
|
|
NM_000540.3(RYR1):c.1687C>T (p.Leu563=)
|
rs2145395637
|
|
NM_000540.3(RYR1):c.1689G>A (p.Leu563=)
|
|
|
NM_000540.3(RYR1):c.1689G>T (p.Leu563=)
|
|
|
NM_000540.3(RYR1):c.168T>C (p.Asn56=)
|
|
|
NM_000540.3(RYR1):c.1695T>C (p.Cys565=)
|
|
|
NM_000540.3(RYR1):c.1698C>T (p.Val566=)
|
|
|
NM_000540.3(RYR1):c.1702A>G (p.Ile568Val)
|
rs1967336522
|
|
NM_000540.3(RYR1):c.1718T>C (p.Val573Ala)
|
rs1600676317
|
|
NM_000540.3(RYR1):c.1720C>G (p.Leu574Val)
|
rs1307522343
|
|
NM_000540.3(RYR1):c.1729A>C (p.Ile577Leu)
|
|
|
NM_000540.3(RYR1):c.1737G>A (p.Glu579=)
|
rs1600676378
|
|
NM_000540.3(RYR1):c.1739_1742dup (p.His581fs)
|
rs193922771
|
|
NM_000540.3(RYR1):c.1743C>T (p.His581=)
|
|
|
NM_000540.3(RYR1):c.1744A>G (p.Ile582Val)
|
rs1131691591
|
|
NM_000540.3(RYR1):c.174C>T (p.Pro58=)
|
|
|
NM_000540.3(RYR1):c.1750T>C (p.Ser584Pro)
|
|
|
NM_000540.3(RYR1):c.1753A>C (p.Ile585Leu)
|
|
|
NM_000540.3(RYR1):c.1753A>G (p.Ile585Val)
|
rs200770015
|
|
NM_000540.3(RYR1):c.175C>T (p.Pro59Ser)
|
rs1555762521
|
|
NM_000540.3(RYR1):c.1761C>T (p.Ser587=)
|
|
|
NM_000540.3(RYR1):c.1764C>T (p.Leu588=)
|
rs2145396015
|
|
NM_000540.3(RYR1):c.1765C>T (p.Leu589=)
|
|
|
NM_000540.3(RYR1):c.1767G>A (p.Leu589=)
|
|
|
NM_000540.3(RYR1):c.1769A>G (p.Asp590Gly)
|
|
|
NM_000540.3(RYR1):c.1774C>G (p.His592Asp)
|
|
|
NM_000540.3(RYR1):c.1778G>A (p.Gly593Glu)
|
rs1568448285
|
|
NM_000540.3(RYR1):c.177del (p.Asp60fs)
|
rs756326114
|
|
NM_000540.3(RYR1):c.177dup (p.Asp60fs)
|
rs756326114
|
|
NM_000540.3(RYR1):c.1782G>A (p.Arg594=)
|
rs2145396122
|
|
NM_000540.3(RYR1):c.1788C>T (p.His596=)
|
|
|
NM_000540.3(RYR1):c.1789A>G (p.Lys597Glu)
|
|
|
NM_000540.3(RYR1):c.178G>C (p.Asp60His)
|
rs118192160
|
|
NM_000540.3(RYR1):c.178G>T (p.Asp60Tyr)
|
rs118192160
|
|
NM_000540.3(RYR1):c.1790A>G (p.Lys597Arg)
|
|
|
NM_000540.3(RYR1):c.1791+13C>G
|
|
|
NM_000540.3(RYR1):c.1791+13C>T
|
|
|
NM_000540.3(RYR1):c.1791+15C>G
|
|
|
NM_000540.3(RYR1):c.1791+16C>A
|
|
|
NM_000540.3(RYR1):c.1791+16C>G
|
|
|
NM_000540.3(RYR1):c.1791+17del
|
|
|
NM_000540.3(RYR1):c.1791+233_1791+238del
|
rs201725585
|
|
NM_000540.3(RYR1):c.1791+236_1791+238dup
|
rs201725585
|
|
NM_000540.3(RYR1):c.1791+237_1791+238dup
|
rs201725585
|
|
NM_000540.3(RYR1):c.1791+238del
|
rs201725585
|
|
NM_000540.3(RYR1):c.1791+238dup
|
rs201725585
|
|
NM_000540.3(RYR1):c.1791+7C>T
|
|
|
NM_000540.3(RYR1):c.1791+8C>T
|
|
|
NM_000540.3(RYR1):c.1792-103C>T
|
rs114840566
|
|
NM_000540.3(RYR1):c.1792-10T>C
|
|
|
NM_000540.3(RYR1):c.1792-12C>A
|
|
|
NM_000540.3(RYR1):c.1792-12C>T
|
|
|
NM_000540.3(RYR1):c.1792-13C>T
|
|
|
NM_000540.3(RYR1):c.1792-17C>T
|
|
|
NM_000540.3(RYR1):c.1792-217G>C
|
rs58037715
|
|
NM_000540.3(RYR1):c.1792-6C>T
|
|
|
NM_000540.3(RYR1):c.1796T>C (p.Leu599Pro)
|
|
|
NM_000540.3(RYR1):c.179A>G (p.Asp60Gly)
|
rs1555762532
|
|
NM_000540.3(RYR1):c.1801G>T (p.Val601Leu)
|
|
|
NM_000540.3(RYR1):c.1806A>G (p.Leu602=)
|
|
|
NM_000540.3(RYR1):c.1808G>A (p.Cys603Tyr)
|
rs886054380
|
|
NM_000540.3(RYR1):c.1808_1823del (p.Cys603fs)
|
rs869312738
|
|
NM_000540.3(RYR1):c.1809C>T (p.Cys603=)
|
|
|
NM_000540.3(RYR1):c.1810T>C (p.Ser604Pro)
|
rs901536375
|
|
NM_000540.3(RYR1):c.1812C>T (p.Ser604=)
|
|
|
NM_000540.3(RYR1):c.1813C>G (p.Leu605Val)
|
|
|
NM_000540.3(RYR1):c.1815G>A (p.Leu605=)
|
rs1437507193
|
|
NM_000540.3(RYR1):c.1819G>A (p.Val607Met)
|
rs1568450391
|
|
NM_000540.3(RYR1):c.1824T>C (p.Cys608=)
|
rs2145406370
|
|
NM_000540.3(RYR1):c.1825A>G (p.Asn609Asp)
|
rs1131691719
|
|
NM_000540.3(RYR1):c.1834G>C (p.Ala612Pro)
|
rs118204423
|
|
NM_000540.3(RYR1):c.1835C>A (p.Ala612Asp)
|
rs1600682739
|
|
NM_000540.3(RYR1):c.1836T>C (p.Ala612=)
|
|
|
NM_000540.3(RYR1):c.1839A>G (p.Val613=)
|
rs886038325
|
|
NM_000540.3(RYR1):c.183G>A (p.Leu61=)
|
|
|
NM_000540.3(RYR1):c.1840C>G (p.Arg614Gly)
|
rs118192172
|
|
NM_000540.3(RYR1):c.1841G>T (p.Arg614Leu)
|
rs193922772
|
|
NM_000540.3(RYR1):c.1842C>G (p.Arg614=)
|
|
|
NM_000540.3(RYR1):c.1848C>A (p.Asn616Lys)
|
rs1380871200
|
|
NM_000540.3(RYR1):c.1855C>G (p.Leu619Val)
|
rs1057519184
|
|
NM_000540.3(RYR1):c.1858A>T (p.Ile620Phe)
|
rs1568450508
|
|
NM_000540.3(RYR1):c.1859T>A (p.Ile620Asn)
|
|
|
NM_000540.3(RYR1):c.1859T>C (p.Ile620Thr)
|
rs1568450514
|
|
NM_000540.3(RYR1):c.1859T>G (p.Ile620Ser)
|
rs1568450514
|
|
NM_000540.3(RYR1):c.1861A>G (p.Thr621Ala)
|
rs794728694
|
|
NM_000540.3(RYR1):c.1870T>C (p.Leu624=)
|
|
|
NM_000540.3(RYR1):c.1874T>C (p.Leu625Pro)
|
rs1555769513
|
|
NM_000540.3(RYR1):c.1875G>C (p.Leu625=)
|
|
|
NM_000540.3(RYR1):c.1875G>T (p.Leu625=)
|
rs1325279684
|
|
NM_000540.3(RYR1):c.1878T>C (p.Pro626=)
|
|
|
NM_000540.3(RYR1):c.1878T>G (p.Pro626=)
|
rs193922773
|
|
NM_000540.3(RYR1):c.1878_1882del (p.Pro626_Gly627insTer)
|
rs797045931
|
|
NM_000540.3(RYR1):c.1881C>G (p.Gly627=)
|
rs2145406694
|
|
NM_000540.3(RYR1):c.1881C>T (p.Gly627=)
|
|
|
NM_000540.3(RYR1):c.1888C>G (p.Leu630Val)
|
rs2145406736
|
|
NM_000540.3(RYR1):c.1890del (p.Leu631fs)
|
rs1600683021
|
|
NM_000540.3(RYR1):c.1895T>A (p.Leu632Gln)
|
rs1261145893
|
|
NM_000540.3(RYR1):c.1897C>A (p.Gln633Lys)
|
|
|
NM_000540.3(RYR1):c.1901C>G (p.Thr634Arg)
|
rs1555769544
|
|
NM_000540.3(RYR1):c.1903A>T (p.Asn635Tyr)
|
rs748746838
|
|
NM_000540.3(RYR1):c.190T>C (p.Cys64Arg)
|
rs995399438
|
|
NM_000540.3(RYR1):c.1911C>A (p.Ile637=)
|
|
|
NM_000540.3(RYR1):c.1914C>T (p.Asn638=)
|
|
|
NM_000540.3(RYR1):c.1925+11C>G
|
|
|
NM_000540.3(RYR1):c.1925+14C>T
|
|
|
NM_000540.3(RYR1):c.1925+15A>T
|
|
|
NM_000540.3(RYR1):c.1925+18T>C
|
|
|
NM_000540.3(RYR1):c.1925+1G>C
|
rs1967488222
|
|
NM_000540.3(RYR1):c.1925G>C (p.Ser642Thr)
|
|
|
NM_000540.3(RYR1):c.1926-20C>T
|
|
|
NM_000540.3(RYR1):c.1926-4G>T
|
rs1322835051
|
|
NM_000540.3(RYR1):c.1926-6C>T
|
|
|
NM_000540.3(RYR1):c.1927A>T (p.Ile643Phe)
|
|
|
NM_000540.3(RYR1):c.1929C>T (p.Ile643=)
|
rs773110930
|
|
NM_000540.3(RYR1):c.1936A>C (p.Asn646His)
|
rs1064796780
|
|
NM_000540.3(RYR1):c.1937A>G (p.Asn646Ser)
|
rs1316726339
|
|
NM_000540.3(RYR1):c.1958A>G (p.Glu653Gly)
|
|
|
NM_000540.3(RYR1):c.1964C>A (p.Thr655Asn)
|
|
|
NM_000540.3(RYR1):c.1966dup (p.Thr656fs)
|
|
|
NM_000540.3(RYR1):c.1982G>A (p.Trp661Ter)
|
rs748492214
|
|
NM_000540.3(RYR1):c.1983G>T (p.Trp661Cys)
|
rs1305971341
|
|
NM_000540.3(RYR1):c.1990G>C (p.Glu664Gln)
|
rs1555769818
|
|
NM_000540.3(RYR1):c.1992G>A (p.Glu664=)
|
|
|
NM_000540.3(RYR1):c.1993G>T (p.Val665Leu)
|
rs2145408589
|
|
NM_000540.3(RYR1):c.1993del (p.Glu664_Val665insTer)
|
rs1568451320
|
|
NM_000540.3(RYR1):c.1998G>A (p.Met666Ile)
|
rs1555769826
|
|
NM_000540.3(RYR1):c.199G>T (p.Val67Phe)
|
|
|
NM_000540.3(RYR1):c.2004C>A (p.Asp668Glu)
|
rs78835441
|
|
NM_000540.3(RYR1):c.2004C>T (p.Asp668=)
|
rs78835441
|
|
NM_000540.3(RYR1):c.2005G>A (p.Glu669Lys)
|
|
|
NM_000540.3(RYR1):c.2005G>C (p.Glu669Gln)
|
|
|
NM_000540.3(RYR1):c.2005G>T (p.Glu669Ter)
|
rs768718943
|
|
NM_000540.3(RYR1):c.2007G>A (p.Glu669=)
|
rs1967518879
|
|
NM_000540.3(RYR1):c.2008G>T (p.Val670Leu)
|
rs1199495792
|
|
NM_000540.3(RYR1):c.2010G>A (p.Val670=)
|
|
|
NM_000540.3(RYR1):c.2019T>C (p.Phe673=)
|
|
|
NM_000540.3(RYR1):c.201C>T (p.Val67=)
|
|
|
NM_000540.3(RYR1):c.2026G>C (p.Ala676Pro)
|
rs1555769850
|
|
NM_000540.3(RYR1):c.2029C>T (p.Gln677Ter)
|
rs878854365
|
|
NM_000540.3(RYR1):c.203del (p.Leu68fs)
|
|
|
NM_000540.3(RYR1):c.2044C>A (p.Arg682=)
|
|
|
NM_000540.3(RYR1):c.2044C>G (p.Arg682Gly)
|
rs776252106
|
|
NM_000540.3(RYR1):c.2044C>T (p.Arg682Trp)
|
rs776252106
|
|
NM_000540.3(RYR1):c.2049G>T (p.Val683=)
|
rs1967521130
|
|
NM_000540.3(RYR1):c.2050G>C (p.Gly684Arg)
|
rs747177274
|
|
NM_000540.3(RYR1):c.2056G>T (p.Ala686Ser)
|
|
|
NM_000540.3(RYR1):c.2058C>G (p.Ala686=)
|
|
|
NM_000540.3(RYR1):c.2060_2061del (p.Leu687fs)
|
rs1967521908
|
|
NM_000540.3(RYR1):c.2075C>T (p.Thr692Ile)
|
rs869312735
|
|
NM_000540.3(RYR1):c.2076C>T (p.Thr692=)
|
rs1468369900
|
|
NM_000540.3(RYR1):c.2085T>G (p.Pro695=)
|
|
|
NM_000540.3(RYR1):c.2087G>T (p.Gly696Val)
|
|
|
NM_000540.3(RYR1):c.208C>T (p.Gln70Ter)
|
rs1456276440
|
|
NM_000540.3(RYR1):c.2094C>A (p.Gly698=)
|
|
|
NM_000540.3(RYR1):c.2094C>T (p.Gly698=)
|
|
|
NM_000540.3(RYR1):c.2097_2123del (p.Glu699_Gly707del)
|
rs876661306
|
|
NM_000540.3(RYR1):c.2103G>C (p.Trp701Cys)
|
rs1600684994
|
|
NM_000540.3(RYR1):c.2110A>G (p.Asn704Asp)
|
rs2145409296
|
|
NM_000540.3(RYR1):c.2111A>G (p.Asn704Ser)
|
|
|
NM_000540.3(RYR1):c.2115G>A (p.Gly705=)
|
|
|
NM_000540.3(RYR1):c.2121C>T (p.Gly707=)
|
|
|
NM_000540.3(RYR1):c.2124T>C (p.Asp708=)
|
rs2145409447
|
|
NM_000540.3(RYR1):c.212C>A (p.Ser71Tyr)
|
rs118192113
|
|
NM_000540.3(RYR1):c.2130C>G (p.Leu710=)
|
rs1268369593
|
|
NM_000540.3(RYR1):c.2130C>T (p.Leu710=)
|
|
|
NM_000540.3(RYR1):c.2135C>A (p.Ser712Tyr)
|
rs1555769917
|
|
NM_000540.3(RYR1):c.2140G>A (p.Gly714Ser)
|
|
|
NM_000540.3(RYR1):c.2164A>G (p.Thr722Ala)
|
rs1183569355
|
|
NM_000540.3(RYR1):c.2167+15C>T
|
|
|
NM_000540.3(RYR1):c.2167+17del
|
rs1409773621
|
|
NM_000540.3(RYR1):c.2167+20G>A
|
|
|
NM_000540.3(RYR1):c.2167+20G>T
|
|
|
NM_000540.3(RYR1):c.2167+320_2167+321insA
|
rs770089602
|
|
NM_000540.3(RYR1):c.2167+322G>T
|
rs62703960
|
|
NM_000540.3(RYR1):c.2167+326G>T
|
rs62118990
|
|
NM_000540.3(RYR1):c.2168-13G>A
|
|
|
NM_000540.3(RYR1):c.2168-1G>A
|
|
|
NM_000540.3(RYR1):c.2168-3dup
|
rs1555770306
|
|
NM_000540.3(RYR1):c.2168-9C>T
|
rs1600687591
|
|
NM_000540.3(RYR1):c.2172C>T (p.His724=)
|
rs761665467
|
|
NM_000540.3(RYR1):c.2180G>A (p.Arg727His)
|
|
|
NM_000540.3(RYR1):c.2181C>T (p.Arg727=)
|
|
|
NM_000540.3(RYR1):c.2186T>C (p.Val729Ala)
|
|
|
NM_000540.3(RYR1):c.2191T>C (p.Ser731Pro)
|
|
|
NM_000540.3(RYR1):c.2195C>T (p.Pro732Leu)
|
|
|
NM_000540.3(RYR1):c.2195del (p.Pro732fs)
|
rs1568452917
|
|
NM_000540.3(RYR1):c.2198G>C (p.Gly733Ala)
|
|
|
NM_000540.3(RYR1):c.2199G>A (p.Gly733=)
|
|
|
NM_000540.3(RYR1):c.21A>G (p.Glu7=)
|
|
|
NM_000540.3(RYR1):c.2200C>T (p.Gln734Ter)
|
|
|
NM_000540.3(RYR1):c.2204_2213del (p.His735fs)
|
|
|
NM_000540.3(RYR1):c.2205C>T (p.His735=)
|
rs985878458
|
|
NM_000540.3(RYR1):c.2214C>G (p.Ala738=)
|
rs772739422
|
|
NM_000540.3(RYR1):c.2216C>G (p.Pro739Arg)
|
|
|
NM_000540.3(RYR1):c.2217T>C (p.Pro739=)
|
|
|
NM_000540.3(RYR1):c.221_222del (p.Val74fs)
|
|
|
NM_000540.3(RYR1):c.2224G>A (p.Val742Met)
|
rs1364240080
|
|
NM_000540.3(RYR1):c.2226G>A (p.Val742=)
|
|
|
NM_000540.3(RYR1):c.2232C>A (p.Ser744Arg)
|
|
|
NM_000540.3(RYR1):c.2235C>T (p.Cys745=)
|
|
|
NM_000540.3(RYR1):c.2242G>A (p.Asp748Asn)
|
|
|
NM_000540.3(RYR1):c.2260A>G (p.Ile754Val)
|
rs780322180
|
|
NM_000540.3(RYR1):c.2268C>T (p.Phe756=)
|
rs1555770357
|
|
NM_000540.3(RYR1):c.2270G>A (p.Arg757His)
|
|
|
NM_000540.3(RYR1):c.2274C>T (p.Ile758=)
|
|
|
NM_000540.3(RYR1):c.2276A>G (p.Asn759Ser)
|
|
|
NM_000540.3(RYR1):c.2283C>T (p.Cys761=)
|
rs747925268
|
|
NM_000540.3(RYR1):c.2286del (p.Val763fs)
|
rs1967600281
|
|
NM_000540.3(RYR1):c.2287G>A (p.Val763Met)
|
rs369947687
|
|
NM_000540.3(RYR1):c.2287G>T (p.Val763Leu)
|
rs369947687
|
|
NM_000540.3(RYR1):c.2290C>T (p.Gln764Ter)
|
rs371455345
|
|
NM_000540.3(RYR1):c.2292G>A (p.Gln764=)
|
rs776172759
|
|
NM_000540.3(RYR1):c.2293G>A (p.Gly765Ser)
|
|
|
NM_000540.3(RYR1):c.2304G>A (p.Glu768=)
|
rs2145414163
|
|
NM_000540.3(RYR1):c.2312A>C (p.Asn771Thr)
|
|
|
NM_000540.3(RYR1):c.2313C>T (p.Asn771=)
|
rs2145414180
|
|
NM_000540.3(RYR1):c.2315T>C (p.Leu772Pro)
|
rs1245178073
|
|
NM_000540.3(RYR1):c.2331C>G (p.Phe777Leu)
|
rs1210759640
|
|
NM_000540.3(RYR1):c.2331C>T (p.Phe777=)
|
|
|
NM_000540.3(RYR1):c.2335G>A (p.Val779Ile)
|
|
|
NM_000540.3(RYR1):c.2338dup (p.Val780fs)
|
rs1967603354
|
|
NM_000540.3(RYR1):c.233A>G (p.Gln78Arg)
|
|
|
NM_000540.3(RYR1):c.2345_2347del (p.Phe782del)
|
|
|
NM_000540.3(RYR1):c.2348C>T (p.Ser783Leu)
|
rs1444347791
|
|
NM_000540.3(RYR1):c.2349G>A (p.Ser783=)
|
|
|
NM_000540.3(RYR1):c.234G>A (p.Gln78=)
|
|
|
NM_000540.3(RYR1):c.2360+12C>T
|
|
|
NM_000540.3(RYR1):c.2360+16C>G
|
|
|
NM_000540.3(RYR1):c.2360+16C>T
|
|
|
NM_000540.3(RYR1):c.2360+16dup
|
|
|
NM_000540.3(RYR1):c.2360+17A>C
|
|
|
NM_000540.3(RYR1):c.2360+7A>C
|
|
|
NM_000540.3(RYR1):c.2361-10C>T
|
|
|
NM_000540.3(RYR1):c.2361-18T>A
|
|
|
NM_000540.3(RYR1):c.2361-18T>C
|
|
|
NM_000540.3(RYR1):c.2361-1G>C
|
rs113379223
|
|
NM_000540.3(RYR1):c.2361-3C>T
|
|
|
NM_000540.3(RYR1):c.2361-4C>T
|
rs753918895
|
|
NM_000540.3(RYR1):c.2361-5C>T
|
rs891381006
|
|
NM_000540.3(RYR1):c.2361-6A>G
|
|
|
NM_000540.3(RYR1):c.2362G>T (p.Val788Leu)
|
rs1967661422
|
|
NM_000540.3(RYR1):c.2366G>T (p.Arg789Leu)
|
|
|
NM_000540.3(RYR1):c.236A>T (p.Glu79Val)
|
|
|
NM_000540.3(RYR1):c.2370_2387del (p.Leu791_His796del)
|
rs2145417895
|
|
NM_000540.3(RYR1):c.2371C>T (p.Leu791Phe)
|
rs1001953442
|
|
NM_000540.3(RYR1):c.2373C>T (p.Leu791=)
|
rs1555770813
|
|
NM_000540.3(RYR1):c.237G>C (p.Glu79Asp)
|
|
|
NM_000540.3(RYR1):c.2381G>A (p.Gly794Asp)
|
|
|
NM_000540.3(RYR1):c.2384G>A (p.Arg795His)
|
rs201635585
|
|
NM_000540.3(RYR1):c.238A>T (p.Met80Leu)
|
|
|
NM_000540.3(RYR1):c.2399A>G (p.Lys800Arg)
|
|
|
NM_000540.3(RYR1):c.2400G>A (p.Lys800=)
|
|
|
NM_000540.3(RYR1):c.2406G>T (p.Leu802=)
|
|
|
NM_000540.3(RYR1):c.2409C>T (p.Pro803=)
|
rs1020894686
|
|
NM_000540.3(RYR1):c.2411C>T (p.Pro804Leu)
|
rs1057524519
|
|
NM_000540.3(RYR1):c.2416G>T (p.Gly806Cys)
|
rs772647350
|
|
NM_000540.3(RYR1):c.241C>T (p.Leu81=)
|
|
|
NM_000540.3(RYR1):c.2420A>G (p.Tyr807Cys)
|
rs1967666805
|
|
NM_000540.3(RYR1):c.2423C>A (p.Ala808Asp)
|
|
|
NM_000540.3(RYR1):c.2427_2446dup (p.Pro816fs)
|
rs1460246826
|
|
NM_000540.3(RYR1):c.2428T>C (p.Cys810Arg)
|
|
|
NM_000540.3(RYR1):c.2433T>C (p.His811=)
|
|
|
NM_000540.3(RYR1):c.2434G>A (p.Glu812Lys)
|
|
|
NM_000540.3(RYR1):c.2435A>T (p.Glu812Val)
|
|
|
NM_000540.3(RYR1):c.2436G>A (p.Glu812=)
|
|
|
NM_000540.3(RYR1):c.2440G>T (p.Val814Leu)
|
rs1017739421
|
|
NM_000540.3(RYR1):c.2449C>G (p.Arg817Gly)
|
rs150633775
|
|
NM_000540.3(RYR1):c.2449C>T (p.Arg817Ter)
|
|
|
NM_000540.3(RYR1):c.2454G>A (p.Glu818=)
|
rs1227127709
|
|
NM_000540.3(RYR1):c.2460C>A (p.Leu820=)
|
rs2145418537
|
|
NM_000540.3(RYR1):c.2474T>C (p.Ile825Thr)
|
|
|
NM_000540.3(RYR1):c.2479G>A (p.Glu827Lys)
|
|
|
NM_000540.3(RYR1):c.2485C>A (p.Arg829=)
|
|
|
NM_000540.3(RYR1):c.2485C>T (p.Arg829Ter)
|
rs778320565
|
|
NM_000540.3(RYR1):c.2491G>A (p.Glu831Lys)
|
rs981293403
|
|
NM_000540.3(RYR1):c.2495G>A (p.Gly832Glu)
|
rs2145418857
|
|
NM_000540.3(RYR1):c.24C>A (p.Asp8Glu)
|
rs1331891798
|
|
NM_000540.3(RYR1):c.24_26dup (p.Asp8dup)
|
rs1568426053
|
|
NM_000540.3(RYR1):c.2500_2501dup (p.Pro836fs)
|
rs1568454672
|
|
NM_000540.3(RYR1):c.2501G>A (p.Arg834Gln)
|
rs1314923827
|
|
NM_000540.3(RYR1):c.2502G>A (p.Arg834=)
|
|
|
NM_000540.3(RYR1):c.2503G>T (p.Gly835Trp)
|
rs763120698
|
|
NM_000540.3(RYR1):c.2505G>C (p.Gly835=)
|
|
|
NM_000540.3(RYR1):c.2505del (p.Pro836fs)
|
rs797045932
|
|
NM_000540.3(RYR1):c.2507C>G (p.Pro836Arg)
|
|
|
NM_000540.3(RYR1):c.2511C>A (p.His837Gln)
|
|
|
NM_000540.3(RYR1):c.2511C>T (p.His837=)
|
|
|
NM_000540.3(RYR1):c.2514G>C (p.Leu838=)
|
|
|
NM_000540.3(RYR1):c.251C>G (p.Thr84Arg)
|
rs186983396
|
|
NM_000540.3(RYR1):c.2524A>C (p.Ser842Arg)
|
|
|
NM_000540.3(RYR1):c.2525G>T (p.Ser842Ile)
|
|
|
NM_000540.3(RYR1):c.2526T>C (p.Ser842=)
|
|
|
NM_000540.3(RYR1):c.2528G>T (p.Arg843Leu)
|
|
|
NM_000540.3(RYR1):c.2529C>T (p.Arg843=)
|
|
|
NM_000540.3(RYR1):c.252G>C (p.Thr84=)
|
|
|
NM_000540.3(RYR1):c.2535C>G (p.Leu845=)
|
|
|
NM_000540.3(RYR1):c.2537C>T (p.Ser846Leu)
|
rs193922775
|
|
NM_000540.3(RYR1):c.2538A>T (p.Ser846=)
|
|
|
NM_000540.3(RYR1):c.2541C>T (p.His847=)
|
|
|
NM_000540.3(RYR1):c.2550C>G (p.Phe850Leu)
|
rs757850226
|
|
NM_000540.3(RYR1):c.2556C>T (p.Pro852=)
|
|
|
NM_000540.3(RYR1):c.255G>A (p.Val85=)
|
rs532101469
|
|
NM_000540.3(RYR1):c.2575C>T (p.Gln859Ter)
|
rs1555770968
|
|
NM_000540.3(RYR1):c.2577+11C>G
|
|
|
NM_000540.3(RYR1):c.2577+158G>A
|
rs144880434
|
|
NM_000540.3(RYR1):c.2577+15G>A
|
rs900088118
|
|
NM_000540.3(RYR1):c.2577+19A>T
|
|
|
NM_000540.3(RYR1):c.2577+31G>C
|
rs74617198
|
|
NM_000540.3(RYR1):c.2577+9T>C
|
|
|
NM_000540.3(RYR1):c.2578-10C>T
|
|
|
NM_000540.3(RYR1):c.2578-12dup
|
rs1568458153
|
|
NM_000540.3(RYR1):c.2578-15T>C
|
|
|
NM_000540.3(RYR1):c.2578-16G>C
|
|
|
NM_000540.3(RYR1):c.2578-19A>G
|
rs886038326
|
|
NM_000540.3(RYR1):c.2578-277_2578-276insT
|
|
|
NM_000540.3(RYR1):c.2578-5T>C
|
|
|
NM_000540.3(RYR1):c.2579T>C (p.Ile860Thr)
|
|
|
NM_000540.3(RYR1):c.2583C>T (p.Val861=)
|
|
|
NM_000540.3(RYR1):c.2583_2586delinsGCT (p.Pro863fs)
|
rs1555772199
|
|
NM_000540.3(RYR1):c.2584C>T (p.Leu862=)
|
|
|
NM_000540.3(RYR1):c.2590C>T (p.Pro864Ser)
|
rs1131691920
|
|
NM_000540.3(RYR1):c.2591C>T (p.Pro864Leu)
|
rs2145432918
|
|
NM_000540.3(RYR1):c.2592C>T (p.Pro864=)
|
|
|
NM_000540.3(RYR1):c.2593C>T (p.His865Tyr)
|
|
|
NM_000540.3(RYR1):c.2594A>G (p.His865Arg)
|
rs371862065
|
|
NM_000540.3(RYR1):c.2608C>A (p.Arg870=)
|
|
|
NM_000540.3(RYR1):c.2613G>T (p.Glu871Asp)
|
rs1967897651
|
|
NM_000540.3(RYR1):c.2614A>C (p.Lys872Gln)
|
rs1555772258
|
|
NM_000540.3(RYR1):c.2617C>T (p.Leu873=)
|
rs2145433080
|
|
NM_000540.3(RYR1):c.2618T>C (p.Leu873Pro)
|
rs1555772266
|
|
NM_000540.3(RYR1):c.2633A>G (p.His878Arg)
|
|
|
NM_000540.3(RYR1):c.2635G>T (p.Glu879Ter)
|
|
|
NM_000540.3(RYR1):c.2643G>A (p.Trp881Ter)
|
|
|
NM_000540.3(RYR1):c.2647C>T (p.Leu883=)
|
|
|
NM_000540.3(RYR1):c.2652C>G (p.Thr884=)
|
|
|
NM_000540.3(RYR1):c.2654G>T (p.Arg885Leu)
|
rs370634440
|
|
NM_000540.3(RYR1):c.2656A>G (p.Ile886Val)
|
rs1568458376
|
|
NM_000540.3(RYR1):c.2658C>A (p.Ile886=)
|
|
|
NM_000540.3(RYR1):c.2658C>G (p.Ile886Met)
|
|
|
NM_000540.3(RYR1):c.2662C>T (p.Gln888Ter)
|
|
|
NM_000540.3(RYR1):c.2677_2679delinsAGG (p.Gly893Arg)
|
|
|
NM_000540.3(RYR1):c.2679C>T (p.Gly893=)
|
rs765657226
|
|
NM_000540.3(RYR1):c.2682+11G>A
|
|
|
NM_000540.3(RYR1):c.2682+5G>A
|
rs1967903452
|
|
NM_000540.3(RYR1):c.2682G>A (p.Pro894=)
|
rs919322708
|
|
NM_000540.3(RYR1):c.2682G>C (p.Pro894=)
|
rs919322708
|
|
NM_000540.3(RYR1):c.2683-10T>G
|
|
|
NM_000540.3(RYR1):c.2683-13G>T
|
|
|
NM_000540.3(RYR1):c.2683-15C>G
|
|
|
NM_000540.3(RYR1):c.2683-15C>T
|
|
|
NM_000540.3(RYR1):c.2683-1G>A
|
rs2145434598
|
|
NM_000540.3(RYR1):c.2683-4C>A
|
rs1009407504
|
|
NM_000540.3(RYR1):c.2683-4C>G
|
|
|
NM_000540.3(RYR1):c.2683-7T>G
|
rs1600702908
|
|
NM_000540.3(RYR1):c.2683-8T>G
|
rs1288036009
|
|
NM_000540.3(RYR1):c.2683-9T>G
|
rs1600702886
|
|
NM_000540.3(RYR1):c.2683G>A (p.Val895Ile)
|
|
|
NM_000540.3(RYR1):c.2688G>C (p.Arg896=)
|
rs756136148
|
|
NM_000540.3(RYR1):c.2689G>A (p.Asp897Asn)
|
rs1201573826
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NM_000540.3(RYR1):c.2694CAA[1] (p.Asn899del)
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NM_000540.3(RYR1):c.2697C>A (p.Asn899Lys)
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rs201401814
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NM_000540.3(RYR1):c.270+10_270+14del
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NM_000540.3(RYR1):c.270+13C>T
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NM_000540.3(RYR1):c.270+20G>T
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NM_000540.3(RYR1):c.270+20dup
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NM_000540.3(RYR1):c.270+21_270+24dup
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NM_000540.3(RYR1):c.270+3G>A
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NM_000540.3(RYR1):c.270+4A>G
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NM_000540.3(RYR1):c.270+9C>A
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NM_000540.3(RYR1):c.2702G>T (p.Arg901Met)
|
rs1967922577
|
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NM_000540.3(RYR1):c.2704C>T (p.Leu902=)
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NM_000540.3(RYR1):c.2706del (p.His903fs)
|
rs747409654
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NM_000540.3(RYR1):c.271-12C>T
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NM_000540.3(RYR1):c.271-13C>T
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NM_000540.3(RYR1):c.271-4G>A
|
rs2145335341
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NM_000540.3(RYR1):c.271-7C>A
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NM_000540.3(RYR1):c.271-7C>T
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NM_000540.3(RYR1):c.271-8C>T
|
rs1972793475
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NM_000540.3(RYR1):c.271-9C>A
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NM_000540.3(RYR1):c.2717T>C (p.Leu906Pro)
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NM_000540.3(RYR1):c.2727C>A (p.Phe909Leu)
|
rs1307510140
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NM_000540.3(RYR1):c.2730C>T (p.His910=)
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NM_000540.3(RYR1):c.2753A>G (p.Asn918Ser)
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NM_000540.3(RYR1):c.2759A>C (p.Asn920Thr)
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NM_000540.3(RYR1):c.2760C>T (p.Asn920=)
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rs1967926283
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NM_000540.3(RYR1):c.2766G>A (p.Gln922=)
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NM_000540.3(RYR1):c.2768T>C (p.Met923Thr)
|
rs2145435079
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NM_000540.3(RYR1):c.2774G>A (p.Gly925Glu)
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NM_000540.3(RYR1):c.2782C>T (p.Leu928Phe)
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NM_000540.3(RYR1):c.2783T>G (p.Leu928Arg)
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NM_000540.3(RYR1):c.2786+10C>T
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NM_000540.3(RYR1):c.2786+15G>A
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NM_000540.3(RYR1):c.2786+17G>A
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NM_000540.3(RYR1):c.2786+18C>T
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NM_000540.3(RYR1):c.2786+198G>A
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rs141219411
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NM_000540.3(RYR1):c.2786+198G>T
|
rs141219411
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NM_000540.3(RYR1):c.2786+19C>T
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NM_000540.3(RYR1):c.2786+2T>G
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rs1967928524
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NM_000540.3(RYR1):c.2786+8C>T
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NM_000540.3(RYR1):c.2787-10C>T
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NM_000540.3(RYR1):c.2787-12C>G
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NM_000540.3(RYR1):c.2787-12C>T
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NM_000540.3(RYR1):c.2787-13C>A
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NM_000540.3(RYR1):c.2787-15C>G
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NM_000540.3(RYR1):c.2787-15C>T
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NM_000540.3(RYR1):c.2787-20C>T
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NM_000540.3(RYR1):c.2787-3del
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NM_000540.3(RYR1):c.2787-8A>G
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NM_000540.3(RYR1):c.2787-9C>G
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NM_000540.3(RYR1):c.2787G>A (p.Lys929=)
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NM_000540.3(RYR1):c.2787G>C (p.Lys929Asn)
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NM_000540.3(RYR1):c.2791_2792del (p.Leu931fs)
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NM_000540.3(RYR1):c.2792T>C (p.Leu931Pro)
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rs1600706153
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NM_000540.3(RYR1):c.2793G>T (p.Leu931=)
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NM_000540.3(RYR1):c.2794C>T (p.Leu932=)
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NM_000540.3(RYR1):c.2808C>T (p.Cys936=)
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rs1410024294
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NM_000540.3(RYR1):c.2824G>A (p.Asp942Asn)
|
rs869312736
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NM_000540.3(RYR1):c.2826T>C (p.Asp942=)
|
rs2145439480
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NM_000540.3(RYR1):c.2829G>A (p.Glu943=)
|
rs2145439502
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NM_000540.3(RYR1):c.282C>G (p.Gly94=)
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rs139629035
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NM_000540.3(RYR1):c.2830A>T (p.Lys944Ter)
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NM_000540.3(RYR1):c.2836G>T (p.Glu946Ter)
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rs1967997615
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NM_000540.3(RYR1):c.2839G>C (p.Asp947His)
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NM_000540.3(RYR1):c.2847G>A (p.Leu949=)
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NM_000540.3(RYR1):c.2854A>T (p.Thr952Ser)
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NM_000540.3(RYR1):c.285G>C (p.Gly95=)
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NM_000540.3(RYR1):c.2865C>G (p.Pro955=)
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NM_000540.3(RYR1):c.2866A>G (p.Lys956Glu)
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NM_000540.3(RYR1):c.2869A>T (p.Thr957Ser)
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NM_000540.3(RYR1):c.2870+18G>C
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NM_000540.3(RYR1):c.2870+19G>T
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NM_000540.3(RYR1):c.2870+1G>A
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rs765241115
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NM_000540.3(RYR1):c.2870+1G>T
|
rs765241115
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NM_000540.3(RYR1):c.2870+5G>A
|
rs1968000305
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NM_000540.3(RYR1):c.2871-12C>T
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NM_000540.3(RYR1):c.2871-17C>A
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NM_000540.3(RYR1):c.2871-17C>T
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NM_000540.3(RYR1):c.2871-18G>A
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NM_000540.3(RYR1):c.2871-20G>A
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NM_000540.3(RYR1):c.2871-4G>T
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rs762932739
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NM_000540.3(RYR1):c.2876T>C (p.Met959Thr)
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NM_000540.3(RYR1):c.2885A>G (p.Asn962Ser)
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NM_000540.3(RYR1):c.2886T>C (p.Asn962=)
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NM_000540.3(RYR1):c.2889G>T (p.Gly963=)
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NM_000540.3(RYR1):c.2890T>C (p.Tyr964His)
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NM_000540.3(RYR1):c.2892C>T (p.Tyr964=)
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rs2145446070
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NM_000540.3(RYR1):c.2900C>T (p.Ala967Val)
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NM_000540.3(RYR1):c.2901T>C (p.Ala967=)
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NM_000540.3(RYR1):c.2905C>T (p.Leu969=)
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NM_000540.3(RYR1):c.2913G>A (p.Leu971=)
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NM_000540.3(RYR1):c.2914A>G (p.Ser972Gly)
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rs1568461688
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NM_000540.3(RYR1):c.2916C>T (p.Ser972=)
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NM_000540.3(RYR1):c.291C>T (p.His97=)
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NM_000540.3(RYR1):c.2920G>T (p.Val974Leu)
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NM_000540.3(RYR1):c.2923C>T (p.Arg975Trp)
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rs371278145
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NM_000540.3(RYR1):c.2925G>A (p.Arg975=)
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NM_000540.3(RYR1):c.2928G>A (p.Leu976=)
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rs1465762320
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NM_000540.3(RYR1):c.2932C>T (p.Pro978Ser)
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NM_000540.3(RYR1):c.2934G>A (p.Pro978=)
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NM_000540.3(RYR1):c.2936C>G (p.Ala979Gly)
|
rs769902566
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NM_000540.3(RYR1):c.2937G>C (p.Ala979=)
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NM_000540.3(RYR1):c.2943G>C (p.Thr981=)
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rs2228069
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NM_000540.3(RYR1):c.2946A>T (p.Thr982=)
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NM_000540.3(RYR1):c.2955C>T (p.Asp985=)
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NM_000540.3(RYR1):c.2982G>A (p.Val994=)
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NM_000540.3(RYR1):c.2982G>C (p.Val994=)
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NM_000540.3(RYR1):c.2984G>A (p.Trp995Ter)
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rs1440262870
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NM_000540.3(RYR1):c.2985G>C (p.Trp995Cys)
|
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NM_000540.3(RYR1):c.2986del (p.Ala996fs)
|
rs1968093571
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NM_000540.3(RYR1):c.2987C>T (p.Ala996Val)
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NM_000540.3(RYR1):c.2988C>T (p.Ala996=)
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rs1475997344
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NM_000540.3(RYR1):c.2989C>T (p.Arg997Ter)
|
rs758925580
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NM_000540.3(RYR1):c.2991A>G (p.Arg997=)
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NM_000540.3(RYR1):c.3001G>A (p.Gly1001Ser)
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rs769915556
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NM_000540.3(RYR1):c.3005A>G (p.Gln1002Arg)
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NM_000540.3(RYR1):c.300C>G (p.Leu100=)
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NM_000540.3(RYR1):c.3018C>T (p.Tyr1006=)
|
rs768777093
|
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NM_000540.3(RYR1):c.3021C>G (p.Ser1007Arg)
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NM_000540.3(RYR1):c.3046C>T (p.Arg1016Ter)
|
rs759085500
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NM_000540.3(RYR1):c.3049A>C (p.Asn1017His)
|
rs2145447118
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NM_000540.3(RYR1):c.3052C>G (p.Pro1018Ala)
|
rs143331857
|
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NM_000540.3(RYR1):c.3052C>T (p.Pro1018Ser)
|
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NM_000540.3(RYR1):c.3056G>C (p.Arg1019Pro)
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NM_000540.3(RYR1):c.3056G>T (p.Arg1019Leu)
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NM_000540.3(RYR1):c.3057_3071del (p.Val1021_Leu1025del)
|
rs1600711151
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NM_000540.3(RYR1):c.3058C>G (p.Leu1020Val)
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NM_000540.3(RYR1):c.3058C>T (p.Leu1020=)
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NM_000540.3(RYR1):c.3069C>T (p.Tyr1023=)
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NM_000540.3(RYR1):c.3070C>T (p.Arg1024Cys)
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NM_000540.3(RYR1):c.3071G>A (p.Arg1024His)
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NM_000540.3(RYR1):c.3072C>T (p.Arg1024=)
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NM_000540.3(RYR1):c.3076C>T (p.Leu1026=)
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NM_000540.3(RYR1):c.3078G>T (p.Leu1026=)
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NM_000540.3(RYR1):c.3086C>T (p.Ala1029Val)
|
rs2145447314
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NM_000540.3(RYR1):c.3094C>G (p.Arg1032Gly)
|
rs374477216
|
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NM_000540.3(RYR1):c.3094C>T (p.Arg1032Cys)
|
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NM_000540.3(RYR1):c.3102C>T (p.Asn1034=)
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NM_000540.3(RYR1):c.3108C>T (p.Asp1036=)
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NM_000540.3(RYR1):c.3116G>A (p.Cys1039Tyr)
|
rs1396808794
|
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NM_000540.3(RYR1):c.3124G>A (p.Val1042Met)
|
rs540088339
|
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NM_000540.3(RYR1):c.3124G>T (p.Val1042Leu)
|
rs540088339
|
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NM_000540.3(RYR1):c.3131C>T (p.Thr1044Ile)
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NM_000540.3(RYR1):c.3133C>T (p.Leu1045Phe)
|
rs1968104774
|
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NM_000540.3(RYR1):c.3154A>G (p.Ile1052Val)
|
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NM_000540.3(RYR1):c.3156C>A (p.Ile1052=)
|
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NM_000540.3(RYR1):c.3157G>A (p.Glu1053Lys)
|
rs746198645
|
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NM_000540.3(RYR1):c.3165T>G (p.Pro1055=)
|
|
|
NM_000540.3(RYR1):c.3166G>A (p.Asp1056Asn)
|
rs2145447772
|
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NM_000540.3(RYR1):c.3166G>C (p.Asp1056His)
|
rs2145447772
|
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NM_000540.3(RYR1):c.3172G>A (p.Glu1058Lys)
|
rs1968107192
|
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NM_000540.3(RYR1):c.3178+10C>G
|
|
|
NM_000540.3(RYR1):c.3178+123_3178+124dup
|
rs869097541
|
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NM_000540.3(RYR1):c.3178+124dup
|
rs869097541
|
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NM_000540.3(RYR1):c.3178+13C>T
|
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NM_000540.3(RYR1):c.3178+13CCCTGG[3]
|
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NM_000540.3(RYR1):c.3178+14C>T
|
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NM_000540.3(RYR1):c.3178+16del
|
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NM_000540.3(RYR1):c.3178+17G>C
|
rs1968109516
|
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NM_000540.3(RYR1):c.3178+1G>A
|
rs1161929108
|
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NM_000540.3(RYR1):c.3178+21dup
|
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NM_000540.3(RYR1):c.3178+24_3178+29del
|
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NM_000540.3(RYR1):c.3178+587A>G
|
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NM_000540.3(RYR1):c.3178A>T (p.Ser1060Cys)
|
rs1568462217
|
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NM_000540.3(RYR1):c.3179-122C>T
|
rs115703825
|
|
NM_000540.3(RYR1):c.3179-13G>T
|
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NM_000540.3(RYR1):c.3179-16C>G
|
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NM_000540.3(RYR1):c.3179-17C>T
|
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NM_000540.3(RYR1):c.3179-88C>G
|
rs145699105
|
|
NM_000540.3(RYR1):c.317T>C (p.Ile106Thr)
|
|
|
NM_000540.3(RYR1):c.3186G>A (p.Val1062=)
|
rs2145453140
|
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NM_000540.3(RYR1):c.3189G>A (p.Glu1063=)
|
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|
NM_000540.3(RYR1):c.318C>A (p.Ile106=)
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NM_000540.3(RYR1):c.3190A>G (p.Asn1064Asp)
|
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NM_000540.3(RYR1):c.3195G>A (p.Gln1065=)
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NM_000540.3(RYR1):c.3216C>T (p.Arg1072=)
|
rs1968178599
|
|
NM_000540.3(RYR1):c.3240T>C (p.Tyr1080=)
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|
NM_000540.3(RYR1):c.3243A>T (p.Thr1081=)
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NM_000540.3(RYR1):c.3244G>C (p.Val1082Leu)
|
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NM_000540.3(RYR1):c.3258C>T (p.Arg1086=)
|
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|
NM_000540.3(RYR1):c.3267C>A (p.Phe1089Leu)
|
rs1302567016
|
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NM_000540.3(RYR1):c.3267C>T (p.Phe1089=)
|
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|
NM_000540.3(RYR1):c.3268G>C (p.Glu1090Gln)
|
rs944826130
|
|
NM_000540.3(RYR1):c.3270G>A (p.Glu1090=)
|
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NM_000540.3(RYR1):c.3270G>C (p.Glu1090Asp)
|
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|
NM_000540.3(RYR1):c.3274G>C (p.Glu1092Gln)
|
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NM_000540.3(RYR1):c.3278C>T (p.Ala1093Val)
|
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|
NM_000540.3(RYR1):c.3279_3291del (p.Val1094fs)
|
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|
NM_000540.3(RYR1):c.3282C>T (p.Val1094=)
|
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|
NM_000540.3(RYR1):c.3288A>T (p.Thr1096=)
|
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|
NM_000540.3(RYR1):c.3291C>G (p.Gly1097=)
|
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|
NM_000540.3(RYR1):c.3291C>T (p.Gly1097=)
|
rs1234999215
|
|
NM_000540.3(RYR1):c.3292G>A (p.Glu1098Lys)
|
rs1968184238
|
|
NM_000540.3(RYR1):c.3298C>T (p.Arg1100Cys)
|
|
|
NM_000540.3(RYR1):c.3304G>A (p.Gly1102Ser)
|
|
|
NM_000540.3(RYR1):c.330T>A (p.His110Gln)
|
rs2145335735
|
|
NM_000540.3(RYR1):c.3311C>G (p.Ala1104Gly)
|
rs149096607
|
|
NM_000540.3(RYR1):c.3318C>A (p.Pro1106=)
|
|
|
NM_000540.3(RYR1):c.3318C>G (p.Pro1106=)
|
rs377584912
|
|
NM_000540.3(RYR1):c.3318C>T (p.Pro1106=)
|
rs377584912
|
|
NM_000540.3(RYR1):c.3322C>A (p.Leu1108Met)
|
|
|
NM_000540.3(RYR1):c.3331G>C (p.Asp1111His)
|
|
|
NM_000540.3(RYR1):c.3334G>A (p.Val1112Ile)
|
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|
NM_000540.3(RYR1):c.3340C>T (p.Leu1114=)
|
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|
NM_000540.3(RYR1):c.3342G>A (p.Leu1114=)
|
|
|
NM_000540.3(RYR1):c.3343G>C (p.Gly1115Arg)
|
rs775927793
|
|
NM_000540.3(RYR1):c.3345A>C (p.Gly1115=)
|
|
|
NM_000540.3(RYR1):c.3345A>G (p.Gly1115=)
|
|
|
NM_000540.3(RYR1):c.3346G>C (p.Ala1116Pro)
|
rs763044626
|
|
NM_000540.3(RYR1):c.3348T>C (p.Ala1116=)
|
rs764397758
|
|
NM_000540.3(RYR1):c.334C>T (p.His112Tyr)
|
|
|
NM_000540.3(RYR1):c.3353A>G (p.Glu1118Gly)
|
rs1968189395
|
|
NM_000540.3(RYR1):c.3360C>T (p.Ala1120=)
|
|
|
NM_000540.3(RYR1):c.3369C>T (p.Phe1123=)
|
rs2145454502
|
|
NM_000540.3(RYR1):c.3381+11C>T
|
|
|
NM_000540.3(RYR1):c.3381+12C>G
|
|
|
NM_000540.3(RYR1):c.3381+13C>T
|
|
|
NM_000540.3(RYR1):c.3381+17G>T
|
|
|
NM_000540.3(RYR1):c.3381+1G>A
|
rs797045934
|
|
NM_000540.3(RYR1):c.3381+214CATC[5]
|
rs67434030
|
|
NM_000540.3(RYR1):c.3381+234_3381+241del
|
rs1320325109
|
|
NM_000540.3(RYR1):c.3381+234_3381+245del
|
rs553982540
|
|
NM_000540.3(RYR1):c.3381+234_3381+249del
|
rs771607037
|
|
NM_000540.3(RYR1):c.3381+234_3381+257del
|
rs1315440607
|
|
NM_000540.3(RYR1):c.3381+237CATC[10]
|
rs753008033
|
|
NM_000540.3(RYR1):c.3381+237CATC[6]
|
rs753008033
|
|
NM_000540.3(RYR1):c.3381+237dup
|
rs1555774295
|
|
NM_000540.3(RYR1):c.3381+238_3381+240del
|
rs776301688
|
|
NM_000540.3(RYR1):c.3381+241del
|
rs1211143995
|
|
NM_000540.3(RYR1):c.3381+245del
|
rs770402462
|
|
NM_000540.3(RYR1):c.3381+287_3381+294del
|
rs57656212
|
|
NM_000540.3(RYR1):c.3381+4G>A
|
rs1163970502
|
|
NM_000540.3(RYR1):c.3381+5del
|
|
|
NM_000540.3(RYR1):c.3381+6T>C
|
rs1568463621
|
|
NM_000540.3(RYR1):c.3381+8C>A
|
|
|
NM_000540.3(RYR1):c.3381+8C>T
|
|
|
NM_000540.3(RYR1):c.3381+9C>T
|
|
|
NM_000540.3(RYR1):c.3382-10G>A
|
|
|
NM_000540.3(RYR1):c.3382-10G>C
|
|
|
NM_000540.3(RYR1):c.3382-16C>G
|
|
|
NM_000540.3(RYR1):c.3382-18C>T
|
|
|
NM_000540.3(RYR1):c.3382-36C>T
|
rs760652802
|
|
NM_000540.3(RYR1):c.3382-3C>T
|
|
|
NM_000540.3(RYR1):c.3382-8C>A
|
|
|
NM_000540.3(RYR1):c.3384C>A (p.Gly1128=)
|
|
|
NM_000540.3(RYR1):c.3387G>A (p.Gln1129=)
|
|
|
NM_000540.3(RYR1):c.3390C>G (p.Arg1130=)
|
rs780582458
|
|
NM_000540.3(RYR1):c.3400G>A (p.Gly1134Ser)
|
|
|
NM_000540.3(RYR1):c.3410C>T (p.Pro1137Leu)
|
rs1225931762
|
|
NM_000540.3(RYR1):c.3419G>A (p.Arg1140His)
|
|
|
NM_000540.3(RYR1):c.341G>A (p.Arg114His)
|
rs574357386
|
|
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.3435C>T (p.Gly1145=)
|
|
|
NM_000540.3(RYR1):c.3437A>G (p.Asp1146Gly)
|
|
|
NM_000540.3(RYR1):c.3441C>T (p.Val1147=)
|
rs1057523511
|
|
NM_000540.3(RYR1):c.345+12C>T
|
|
|
NM_000540.3(RYR1):c.345+20G>C
|
|
|
NM_000540.3(RYR1):c.345+8del
|
|
|
NM_000540.3(RYR1):c.345+9A>C
|
rs2145335816
|
|
NM_000540.3(RYR1):c.3451A>G (p.Met1151Val)
|
|
|
NM_000540.3(RYR1):c.3451dup (p.Met1151fs)
|
rs2145461642
|
|
NM_000540.3(RYR1):c.3452T>A (p.Met1151Lys)
|
|
|
NM_000540.3(RYR1):c.3456C>A (p.Ile1152=)
|
|
|
NM_000540.3(RYR1):c.346-12C>T
|
|
|
NM_000540.3(RYR1):c.346-19C>T
|
|
|
NM_000540.3(RYR1):c.346-1G>A
|
|
|
NM_000540.3(RYR1):c.346-5C>T
|
|
|
NM_000540.3(RYR1):c.3468G>A (p.Glu1156=)
|
|
|
NM_000540.3(RYR1):c.3477T>C (p.Ile1159=)
|
rs1345201599
|
|
NM_000540.3(RYR1):c.3477T>G (p.Ile1159Met)
|
|
|
NM_000540.3(RYR1):c.3478A>G (p.Ile1160Val)
|
|
|
NM_000540.3(RYR1):c.3485C>T (p.Thr1162Ile)
|
rs1280346095
|
|
NM_000540.3(RYR1):c.3486C>T (p.Thr1162=)
|
|
|
NM_000540.3(RYR1):c.3489C>T (p.Leu1163=)
|
|
|
NM_000540.3(RYR1):c.3494G>A (p.Gly1165Asp)
|
rs559581937
|
|
NM_000540.3(RYR1):c.3498G>A (p.Glu1166=)
|
|
|
NM_000540.3(RYR1):c.3498G>C (p.Glu1166Asp)
|
rs546323484
|
|
NM_000540.3(RYR1):c.3499G>A (p.Val1167Ile)
|
rs747251082
|
|
NM_000540.3(RYR1):c.34T>C (p.Phe12Leu)
|
|
|
NM_000540.3(RYR1):c.3500T>A (p.Val1167Asp)
|
rs2145461914
|
|
NM_000540.3(RYR1):c.3505A>G (p.Met1169Val)
|
rs139069946
|
|
NM_000540.3(RYR1):c.3507G>A (p.Met1169Ile)
|
|
|
NM_000540.3(RYR1):c.3513C>G (p.Asp1171Glu)
|
rs1968278014
|
|
NM_000540.3(RYR1):c.3526A>G (p.Thr1176Ala)
|
rs1968278835
|
|
NM_000540.3(RYR1):c.3527C>T (p.Thr1176Ile)
|
rs549201486
|
|
NM_000540.3(RYR1):c.3549T>C (p.Ile1183=)
|
|
|
NM_000540.3(RYR1):c.3550G>A (p.Gly1184Arg)
|
rs1968280304
|
|
NM_000540.3(RYR1):c.3551G>C (p.Gly1184Ala)
|
rs1968280444
|
|
NM_000540.3(RYR1):c.3556+17C>G
|
|
|
NM_000540.3(RYR1):c.3556+19T>C
|
|
|
NM_000540.3(RYR1):c.3556+7G>A
|
rs1339914513
|
|
NM_000540.3(RYR1):c.3556G>A (p.Gly1186Ser)
|
rs1568465251
|
|
NM_000540.3(RYR1):c.3557-10_3562del
|
|
|
NM_000540.3(RYR1):c.3557-11C>T
|
|
|
NM_000540.3(RYR1):c.3557-12C>T
|
|
|
NM_000540.3(RYR1):c.3557-14T>C
|
|
|
NM_000540.3(RYR1):c.3557-15A>C
|
|
|
NM_000540.3(RYR1):c.3557-17C>T
|
|
|
NM_000540.3(RYR1):c.3557-5A>G
|
rs1172235422
|
|
NM_000540.3(RYR1):c.3557-7C>A
|
rs745912857
|
|
NM_000540.3(RYR1):c.3557-8C>T
|
|
|
NM_000540.3(RYR1):c.3562C>A (p.Leu1188Met)
|
|
|
NM_000540.3(RYR1):c.3568G>T (p.Val1190Phe)
|
rs749283427
|
|
NM_000540.3(RYR1):c.3573C>T (p.Cys1191=)
|
|
|
NM_000540.3(RYR1):c.3575G>C (p.Ser1192Thr)
|
|
|
NM_000540.3(RYR1):c.3582A>C (p.Gly1194=)
|
|
|
NM_000540.3(RYR1):c.3586G>A (p.Gly1196Ser)
|
rs761486341
|
|
NM_000540.3(RYR1):c.3588C>T (p.Gly1196=)
|
|
|
NM_000540.3(RYR1):c.358C>T (p.Leu120Phe)
|
rs1229011605
|
|
NM_000540.3(RYR1):c.3594G>A (p.Val1198=)
|
rs1219381578
|
|
NM_000540.3(RYR1):c.35_37delinsCG (p.Phe12fs)
|
rs193922743
|
|
NM_000540.3(RYR1):c.3601C>A (p.Leu1201Met)
|
|
|
NM_000540.3(RYR1):c.3601C>T (p.Leu1201=)
|
|
|
NM_000540.3(RYR1):c.360C>G (p.Leu120=)
|
rs753899346
|
|
NM_000540.3(RYR1):c.3618C>G (p.Asp1206Glu)
|
|
|
NM_000540.3(RYR1):c.3633G>T (p.Arg1211Ser)
|
|
|
NM_000540.3(RYR1):c.363C>G (p.Thr121=)
|
|
|
NM_000540.3(RYR1):c.3643A>T (p.Ile1215Phe)
|
rs1283129743
|
|
NM_000540.3(RYR1):c.364A>C (p.Thr122Pro)
|
rs1555763388
|
|
NM_000540.3(RYR1):c.3655C>T (p.Gln1219Ter)
|
|
|
NM_000540.3(RYR1):c.3656A>C (p.Gln1219Pro)
|
rs2145463700
|
|
NM_000540.3(RYR1):c.3658G>A (p.Glu1220Lys)
|
rs757687986
|
|
NM_000540.3(RYR1):c.3669G>A (p.Glu1223=)
|
rs1555774737
|
|
NM_000540.3(RYR1):c.366C>T (p.Thr122=)
|
|
|
NM_000540.3(RYR1):c.3677C>A (p.Ala1226Asp)
|
rs1600720111
|
|
NM_000540.3(RYR1):c.3678C>G (p.Ala1226=)
|
rs1339521130
|
|
NM_000540.3(RYR1):c.3678C>T (p.Ala1226=)
|
|
|
NM_000540.3(RYR1):c.3681C>T (p.Ile1227=)
|
|
|
NM_000540.3(RYR1):c.3684C>G (p.Asn1228Lys)
|
|
|
NM_000540.3(RYR1):c.3686T>G (p.Met1229Arg)
|
|
|
NM_000540.3(RYR1):c.3695C>A (p.Pro1232Gln)
|
rs1363931971
|
|
NM_000540.3(RYR1):c.3695C>T (p.Pro1232Leu)
|
rs1363931971
|
|
NM_000540.3(RYR1):c.369C>A (p.Ser123=)
|
|
|
NM_000540.3(RYR1):c.3702C>T (p.Thr1234=)
|
rs1600720232
|
|
NM_000540.3(RYR1):c.3704C>T (p.Thr1235Ile)
|
|
|
NM_000540.3(RYR1):c.3711C>T (p.Phe1237=)
|
|
|
NM_000540.3(RYR1):c.3713_3715dup (p.Ser1238dup)
|
rs761789667
|
|
NM_000540.3(RYR1):c.371G>A (p.Arg124His)
|
|
|
NM_000540.3(RYR1):c.3726C>A (p.Pro1242=)
|
|
|
NM_000540.3(RYR1):c.3727del (p.Gln1243fs)
|
|
|
NM_000540.3(RYR1):c.372C>T (p.Arg124=)
|
|
|
NM_000540.3(RYR1):c.3735G>A (p.Glu1245=)
|
|
|
NM_000540.3(RYR1):c.3737C>T (p.Pro1246Leu)
|
rs945038715
|
|
NM_000540.3(RYR1):c.3741G>A (p.Val1247=)
|
|
|
NM_000540.3(RYR1):c.374C>G (p.Ser125Cys)
|
rs904309560
|
|
NM_000540.3(RYR1):c.3750A>G (p.Glu1250=)
|
|
|
NM_000540.3(RYR1):c.3751C>A (p.His1251Asn)
|
rs943777976
|
|
NM_000540.3(RYR1):c.3757C>T (p.His1253Tyr)
|
rs2145464364
|
|
NM_000540.3(RYR1):c.3765+13C>T
|
|
|
NM_000540.3(RYR1):c.3765+16C>T
|
rs2145464521
|
|
NM_000540.3(RYR1):c.3766-12C>T
|
|
|
NM_000540.3(RYR1):c.3766-17A>G
|
|
|
NM_000540.3(RYR1):c.3766-19C>G
|
|
|
NM_000540.3(RYR1):c.3766-1G>A
|
rs2145482463
|
|
NM_000540.3(RYR1):c.3766-5C>A
|
|
|
NM_000540.3(RYR1):c.3766-6C>T
|
|
|
NM_000540.3(RYR1):c.3768A>G (p.Val1256=)
|
rs1600729390
|
|
NM_000540.3(RYR1):c.3772C>A (p.Arg1258=)
|
|
|
NM_000540.3(RYR1):c.3772C>T (p.Arg1258Ter)
|
|
|
NM_000540.3(RYR1):c.3773G>A (p.Arg1258Gln)
|
|
|
NM_000540.3(RYR1):c.3773G>T (p.Arg1258Leu)
|
rs886054381
|
|
NM_000540.3(RYR1):c.3778G>A (p.Asp1260Asn)
|
rs1064796577
|
|
NM_000540.3(RYR1):c.3780C>G (p.Asp1260Glu)
|
rs746617954
|
|
NM_000540.3(RYR1):c.3780C>T (p.Asp1260=)
|
rs746617954
|
|
NM_000540.3(RYR1):c.3781G>A (p.Gly1261Ser)
|
rs1283943829
|
|
NM_000540.3(RYR1):c.3787G>T (p.Val1263Leu)
|
rs770725171
|
|
NM_000540.3(RYR1):c.3789G>T (p.Val1263=)
|
rs2145482628
|
|
NM_000540.3(RYR1):c.3792C>T (p.Asp1264=)
|
rs2145482638
|
|
NM_000540.3(RYR1):c.3795G>A (p.Thr1265=)
|
|
|
NM_000540.3(RYR1):c.3795G>C (p.Thr1265=)
|
|
|
NM_000540.3(RYR1):c.3796C>T (p.Pro1266Ser)
|
|
|
NM_000540.3(RYR1):c.3799C>A (p.Pro1267Thr)
|
rs564495912
|
|
NM_000540.3(RYR1):c.3799C>G (p.Pro1267Ala)
|
|
|
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.3801C>G (p.Pro1267=)
|
|
|
NM_000540.3(RYR1):c.3801C>T (p.Pro1267=)
|
|
|
NM_000540.3(RYR1):c.3801del (p.Cys1268fs)
|
|
|
NM_000540.3(RYR1):c.3801dup (p.Cys1268fs)
|
rs587784374
|
|
NM_000540.3(RYR1):c.3802del (p.Cys1268fs)
|
|
|
NM_000540.3(RYR1):c.3803G>A (p.Cys1268Tyr)
|
|
|
NM_000540.3(RYR1):c.3805del (p.Leu1269fs)
|
rs1568469505
|
|
NM_000540.3(RYR1):c.3808C>T (p.Arg1270Cys)
|
rs774705775
|
|
NM_000540.3(RYR1):c.3809G>C (p.Arg1270Pro)
|
|
|
NM_000540.3(RYR1):c.3813G>C (p.Leu1271=)
|
|
|
NM_000540.3(RYR1):c.3820C>G (p.Arg1274Gly)
|
rs1425575552
|
|
NM_000540.3(RYR1):c.3823A>G (p.Thr1275Ala)
|
rs1568469574
|
|
NM_000540.3(RYR1):c.3825C>A (p.Thr1275=)
|
|
|
NM_000540.3(RYR1):c.3828G>A (p.Trp1276Ter)
|
rs2145482955
|
|
NM_000540.3(RYR1):c.3840C>T (p.Asn1280=)
|
|
|
NM_000540.3(RYR1):c.3856C>G (p.Leu1286Val)
|
|
|
NM_000540.3(RYR1):c.3862C>T (p.Leu1288=)
|
|
|
NM_000540.3(RYR1):c.3866G>C (p.Arg1289Pro)
|
rs1222529194
|
|
NM_000540.3(RYR1):c.3876C>G (p.Leu1292=)
|
|
|
NM_000540.3(RYR1):c.3879A>G (p.Pro1293=)
|
|
|
NM_000540.3(RYR1):c.3880G>T (p.Val1294Phe)
|
rs1968540857
|
|
NM_000540.3(RYR1):c.3885G>A (p.Gln1295=)
|
|
|
NM_000540.3(RYR1):c.3888C>T (p.Phe1296=)
|
|
|
NM_000540.3(RYR1):c.3889del (p.His1297fs)
|
|
|
NM_000540.3(RYR1):c.3895C>G (p.His1299Asp)
|
|
|
NM_000540.3(RYR1):c.38T>G (p.Leu13Arg)
|
rs193922744
|
|
NM_000540.3(RYR1):c.3909T>A (p.Thr1303=)
|
rs752841665
|
|
NM_000540.3(RYR1):c.3912A>C (p.Ala1304=)
|
|
|
NM_000540.3(RYR1):c.3918C>A (p.Ala1306=)
|
rs2145483481
|
|
NM_000540.3(RYR1):c.3920C>T (p.Thr1307Ile)
|
rs1968543733
|
|
NM_000540.3(RYR1):c.3924G>A (p.Pro1308=)
|
rs144350050
|
|
NM_000540.3(RYR1):c.3924G>T (p.Pro1308=)
|
|
|
NM_000540.3(RYR1):c.3928G>T (p.Ala1310Ser)
|
|
|
NM_000540.3(RYR1):c.3929C>G (p.Ala1310Gly)
|
rs2145483571
|
|
NM_000540.3(RYR1):c.392C>T (p.Ala131Val)
|
|
|
NM_000540.3(RYR1):c.3930A>C (p.Ala1310=)
|
|
|
NM_000540.3(RYR1):c.3940C>T (p.Leu1314=)
|
|
|
NM_000540.3(RYR1):c.3943del (p.Gln1315fs)
|
|
|
NM_000540.3(RYR1):c.3946C>T (p.Pro1316Ser)
|
rs200894780
|
|
NM_000540.3(RYR1):c.3948C>G (p.Pro1316=)
|
rs1232086359
|
|
NM_000540.3(RYR1):c.3951del (p.Ala1318fs)
|
|
|
NM_000540.3(RYR1):c.3951dup (p.Ala1318fs)
|
rs772166066
|
|
NM_000540.3(RYR1):c.3954C>T (p.Ala1318=)
|
|
|
NM_000540.3(RYR1):c.3955G>T (p.Glu1319Ter)
|
|
|
NM_000540.3(RYR1):c.3961G>A (p.Glu1321Lys)
|
rs1568469863
|
|
NM_000540.3(RYR1):c.3964G>T (p.Ala1322Ser)
|
|
|
NM_000540.3(RYR1):c.3964_3982dup (p.Asp1328fs)
|
rs1281542312
|
|
NM_000540.3(RYR1):c.3967C>T (p.Arg1323Trp)
|
|
|
NM_000540.3(RYR1):c.3969G>A (p.Arg1323=)
|
|
|
NM_000540.3(RYR1):c.3971C>T (p.Ala1324Val)
|
|
|
NM_000540.3(RYR1):c.3972G>C (p.Ala1324=)
|
rs200451188
|
|
NM_000540.3(RYR1):c.3978A>G (p.Glu1326=)
|
|
|
NM_000540.3(RYR1):c.397G>A (p.Asp133Asn)
|
|
|
NM_000540.3(RYR1):c.3982_3986del (p.Pro1327_Asp1328insTer)
|
rs1555775774
|
|
NM_000540.3(RYR1):c.3992A>G (p.Tyr1331Cys)
|
|
|
NM_000540.3(RYR1):c.3993C>T (p.Tyr1331=)
|
rs757263741
|
|
NM_000540.3(RYR1):c.399T>C (p.Asp133=)
|
|
|
NM_000540.3(RYR1):c.3G>C (p.Met1Ile)
|
|
|
NM_000540.3(RYR1):c.4000C>T (p.Leu1334=)
|
|
|
NM_000540.3(RYR1):c.4007G>T (p.Arg1336Leu)
|
|
|
NM_000540.3(RYR1):c.4008C>T (p.Arg1336=)
|
|
|
NM_000540.3(RYR1):c.400G>A (p.Val134Met)
|
|
|
NM_000540.3(RYR1):c.4014T>C (p.Ala1338=)
|
|
|
NM_000540.3(RYR1):c.4015G>C (p.Gly1339Arg)
|
|
|
NM_000540.3(RYR1):c.4015G>T (p.Gly1339Trp)
|
|
|
NM_000540.3(RYR1):c.4019del (p.Gly1340fs)
|
|
|
NM_000540.3(RYR1):c.4026C>T (p.Ser1342=)
|
rs182004703
|
|
NM_000540.3(RYR1):c.4027G>A (p.Glu1343Lys)
|
rs956750749
|
|
NM_000540.3(RYR1):c.4030G>A (p.Ala1344Thr)
|
|
|
NM_000540.3(RYR1):c.4035G>A (p.Glu1345=)
|
|
|
NM_000540.3(RYR1):c.4038C>T (p.Asn1346=)
|
rs777049924
|
|
NM_000540.3(RYR1):c.4039G>A (p.Gly1347Ser)
|
|
|
NM_000540.3(RYR1):c.4053T>C (p.Thr1351=)
|
|
|
NM_000540.3(RYR1):c.4059G>A (p.Lys1353=)
|
rs1968555189
|
|
NM_000540.3(RYR1):c.4065C>T (p.Gly1355=)
|
|
|
NM_000540.3(RYR1):c.4065del (p.Ala1356fs)
|
|
|
NM_000540.3(RYR1):c.4066G>A (p.Ala1356Thr)
|
rs933347966
|
|
NM_000540.3(RYR1):c.4068C>T (p.Ala1356=)
|
rs1311129503
|
|
NM_000540.3(RYR1):c.406C>T (p.Leu136=)
|
|
|
NM_000540.3(RYR1):c.4071C>A (p.Pro1357=)
|
rs375709463
|
|
NM_000540.3(RYR1):c.4071C>G (p.Pro1357=)
|
|
|
NM_000540.3(RYR1):c.4074G>C (p.Gly1358=)
|
|
|
NM_000540.3(RYR1):c.4076del (p.Gly1359fs)
|
rs794727460
|
|
NM_000540.3(RYR1):c.4082dup (p.Gln1362fs)
|
rs1600731073
|
|
NM_000540.3(RYR1):c.4083_4084delinsAT (p.Gln1362Ter)
|
rs2145484822
|
|
NM_000540.3(RYR1):c.4088C>G (p.Ala1363Gly)
|
rs774603798
|
|
NM_000540.3(RYR1):c.4089G>A (p.Ala1363=)
|
|
|
NM_000540.3(RYR1):c.4089G>T (p.Ala1363=)
|
rs761793739
|
|
NM_000540.3(RYR1):c.4090G>T (p.Gly1364Trp)
|
rs35869497
|
|
NM_000540.3(RYR1):c.4092_4114dup (p.Ala1372fs)
|
|
|
NM_000540.3(RYR1):c.4094del (p.Gly1365fs)
|
rs587784375
|
|
NM_000540.3(RYR1):c.4094dup (p.Glu1366fs)
|
rs587784375
|
|
NM_000540.3(RYR1):c.4097A>G (p.Glu1366Gly)
|
|
|
NM_000540.3(RYR1):c.4098G>A (p.Glu1366=)
|
|
|
NM_000540.3(RYR1):c.4099G>A (p.Ala1367Thr)
|
|
|
NM_000540.3(RYR1):c.40C>T (p.Arg14Trp)
|
|
|
NM_000540.3(RYR1):c.4105C>T (p.Pro1369Ser)
|
|
|
NM_000540.3(RYR1):c.4108G>T (p.Ala1370Ser)
|
|
|
NM_000540.3(RYR1):c.4111A>G (p.Arg1371Gly)
|
|
|
NM_000540.3(RYR1):c.4111A>T (p.Arg1371Trp)
|
|
|
NM_000540.3(RYR1):c.4114G>C (p.Ala1372Pro)
|
|
|
NM_000540.3(RYR1):c.4116G>A (p.Ala1372=)
|
|
|
NM_000540.3(RYR1):c.4116G>C (p.Ala1372=)
|
|
|
NM_000540.3(RYR1):c.4119G>A (p.Glu1373=)
|
|
|
NM_000540.3(RYR1):c.4123G>C (p.Glu1375Gln)
|
|
|
NM_000540.3(RYR1):c.4126_4128del (p.Lys1376del)
|
|
|
NM_000540.3(RYR1):c.4134C>T (p.Ala1378=)
|
|
|
NM_000540.3(RYR1):c.4140C>T (p.Thr1380=)
|
|
|
NM_000540.3(RYR1):c.4149C>T (p.Asn1383=)
|
|
|
NM_000540.3(RYR1):c.414G>A (p.Glu138=)
|
rs1600641081
|
|
NM_000540.3(RYR1):c.4155G>A (p.Lys1385=)
|
rs2145485484
|
|
NM_000540.3(RYR1):c.4160+10G>A
|
|
|
NM_000540.3(RYR1):c.4160+11G>A
|
|
|
NM_000540.3(RYR1):c.4160+12G>A
|
|
|
NM_000540.3(RYR1):c.4160+14G>T
|
|
|
NM_000540.3(RYR1):c.4160+15G>A
|
|
|
NM_000540.3(RYR1):c.4160+15G>C
|
|
|
NM_000540.3(RYR1):c.4160+15G>T
|
|
|
NM_000540.3(RYR1):c.4160+20G>A
|
|
|
NM_000540.3(RYR1):c.4160+34G>A
|
rs886038329
|
|
NM_000540.3(RYR1):c.4160+8G>T
|
rs886054383
|
|
NM_000540.3(RYR1):c.4161-11C>T
|
|
|
NM_000540.3(RYR1):c.4161-13C>T
|
|
|
NM_000540.3(RYR1):c.4161-14C>T
|
|
|
NM_000540.3(RYR1):c.4161-15_4161-14del
|
|
|
NM_000540.3(RYR1):c.4161-16C>T
|
|
|
NM_000540.3(RYR1):c.4161-18C>A
|
|
|
NM_000540.3(RYR1):c.4161-20G>A
|
|
|
NM_000540.3(RYR1):c.4161-4C>T
|
rs2145492013
|
|
NM_000540.3(RYR1):c.4161-6T>G
|
|
|
NM_000540.3(RYR1):c.4161-74G>T
|
rs112210268
|
|
NM_000540.3(RYR1):c.4161-8A>C
|
rs749480693
|
|
NM_000540.3(RYR1):c.4168T>C (p.Phe1390Leu)
|
|
|
NM_000540.3(RYR1):c.4176del (p.Lys1393fs)
|
rs2145492068
|
|
NM_000540.3(RYR1):c.4182G>T (p.Lys1394Asn)
|
rs886054384
|
|
NM_000540.3(RYR1):c.4191G>T (p.Met1397Ile)
|
|
|
NM_000540.3(RYR1):c.4204C>G (p.Pro1402Ala)
|
|
|
NM_000540.3(RYR1):c.4206G>A (p.Pro1402=)
|
|
|
NM_000540.3(RYR1):c.4209C>T (p.Ala1403=)
|
|
|
NM_000540.3(RYR1):c.4212C>A (p.Thr1404=)
|
|
|
NM_000540.3(RYR1):c.4215C>A (p.Pro1405=)
|
|
|
NM_000540.3(RYR1):c.4215C>G (p.Pro1405=)
|
rs752410805
|
|
NM_000540.3(RYR1):c.4215C>T (p.Pro1405=)
|
rs752410805
|
|
NM_000540.3(RYR1):c.4218G>A (p.Thr1406=)
|
|
|
NM_000540.3(RYR1):c.4219C>G (p.Leu1407Val)
|
|
|
NM_000540.3(RYR1):c.421A>G (p.Thr141Ala)
|
rs2145336477
|
|
NM_000540.3(RYR1):c.4224C>T (p.Pro1408=)
|
rs2145492360
|
|
NM_000540.3(RYR1):c.4225C>A (p.Arg1409=)
|
|
|
NM_000540.3(RYR1):c.4226G>A (p.Arg1409Gln)
|
|
|
NM_000540.3(RYR1):c.4231C>A (p.Pro1411Thr)
|
rs1228139814
|
|
NM_000540.3(RYR1):c.4236C>T (p.His1412=)
|
rs146206507
|
|
NM_000540.3(RYR1):c.4239C>T (p.Asp1413=)
|
|
|
NM_000540.3(RYR1):c.424+14A>G
|
|
|
NM_000540.3(RYR1):c.424+15G>A
|
|
|
NM_000540.3(RYR1):c.424+17G>T
|
|
|
NM_000540.3(RYR1):c.424+2T>C
|
rs775192689
|
|
NM_000540.3(RYR1):c.424+6G>A
|
rs1555763462
|
|
NM_000540.3(RYR1):c.424+9G>A
|
|
|
NM_000540.3(RYR1):c.424+9G>C
|
rs2145336581
|
|
NM_000540.3(RYR1):c.425-14A>G
|
|
|
NM_000540.3(RYR1):c.425-15C>T
|
|
|
NM_000540.3(RYR1):c.425-17dup
|
|
|
NM_000540.3(RYR1):c.425-4A>G
|
|
|
NM_000540.3(RYR1):c.425-9C>T
|
|
|
NM_000540.3(RYR1):c.4254C>T (p.Asp1418=)
|
|
|
NM_000540.3(RYR1):c.4256A>G (p.Asn1419Ser)
|
rs772135005
|
|
NM_000540.3(RYR1):c.4266C>T (p.Asp1422=)
|
rs886054385
|
|
NM_000540.3(RYR1):c.4269C>A (p.Pro1423=)
|
|
|
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.4276A>G (p.Ile1426Val)
|
|
|
NM_000540.3(RYR1):c.4282A>G (p.Asn1428Asp)
|
|
|
NM_000540.3(RYR1):c.4283A>G (p.Asn1428Ser)
|
|
|
NM_000540.3(RYR1):c.4287C>T (p.Thr1429=)
|
rs1020726350
|
|
NM_000540.3(RYR1):c.4290C>T (p.Thr1430=)
|
|
|
NM_000540.3(RYR1):c.4293+15C>A
|
|
|
NM_000540.3(RYR1):c.4293+17C>T
|
|
|
NM_000540.3(RYR1):c.4293+19C>T
|
|
|
NM_000540.3(RYR1):c.4293+6G>A
|
|
|
NM_000540.3(RYR1):c.4293+8C>G
|
|
|
NM_000540.3(RYR1):c.4294-13C>T
|
|
|
NM_000540.3(RYR1):c.4294-17C>T
|
|
|
NM_000540.3(RYR1):c.4294-1G>C
|
|
|
NM_000540.3(RYR1):c.4294-2A>G
|
rs1555777043
|
|
NM_000540.3(RYR1):c.4297T>C (p.Tyr1433His)
|
rs1555777044
|
|
NM_000540.3(RYR1):c.4298A>G (p.Tyr1433Cys)
|
rs1331110158
|
|
NM_000540.3(RYR1):c.4299T>C (p.Tyr1433=)
|
rs765661825
|
|
NM_000540.3(RYR1):c.4299T>G (p.Tyr1433Ter)
|
rs765661825
|
|
NM_000540.3(RYR1):c.429G>A (p.Glu143=)
|
|
|
NM_000540.3(RYR1):c.42G>C (p.Arg14=)
|
rs2145289038
|
|
NM_000540.3(RYR1):c.4306G>T (p.Val1436Leu)
|
|
|
NM_000540.3(RYR1):c.4310G>A (p.Arg1437Lys)
|
rs1568474736
|
|
NM_000540.3(RYR1):c.4311G>A (p.Arg1437=)
|
rs113831421
|
|
NM_000540.3(RYR1):c.4314C>T (p.Val1438=)
|
|
|
NM_000540.3(RYR1):c.4319_4325del (p.Ala1440fs)
|
|
|
NM_000540.3(RYR1):c.4322G>T (p.Gly1441Val)
|
rs1968805897
|
|
NM_000540.3(RYR1):c.4338C>G (p.Cys1446Trp)
|
|
|
NM_000540.3(RYR1):c.4342T>C (p.Trp1448Arg)
|
rs886054386
|
|
NM_000540.3(RYR1):c.4343G>A (p.Trp1448Ter)
|
|
|
NM_000540.3(RYR1):c.4350C>T (p.Gly1450=)
|
rs2145502511
|
|
NM_000540.3(RYR1):c.4354G>T (p.Val1452Phe)
|
|
|
NM_000540.3(RYR1):c.4358C>A (p.Thr1453Asn)
|
|
|
NM_000540.3(RYR1):c.4359C>A (p.Thr1453=)
|
rs1265582299
|
|
NM_000540.3(RYR1):c.4363del (p.Asp1455fs)
|
rs1555777086
|
|
NM_000540.3(RYR1):c.4364A>G (p.Asp1455Gly)
|
rs2145502600
|
|
NM_000540.3(RYR1):c.4365C>T (p.Asp1455=)
|
|
|
NM_000540.3(RYR1):c.4366T>C (p.Tyr1456His)
|
rs2145502626
|
|
NM_000540.3(RYR1):c.4368C>G (p.Tyr1456Ter)
|
|
|
NM_000540.3(RYR1):c.4370A>G (p.His1457Arg)
|
|
|
NM_000540.3(RYR1):c.4376A>G (p.His1459Arg)
|
rs767071972
|
|
NM_000540.3(RYR1):c.4382T>C (p.Met1461Thr)
|
|
|
NM_000540.3(RYR1):c.4383del (p.Met1461fs)
|
|
|
NM_000540.3(RYR1):c.4389C>T (p.Phe1463=)
|
rs764530417
|
|
NM_000540.3(RYR1):c.4393C>T (p.Leu1465Phe)
|
rs1005584992
|
|
NM_000540.3(RYR1):c.4400A>T (p.Lys1467Met)
|
rs145573319
|
|
NM_000540.3(RYR1):c.4408del (p.Val1470fs)
|
|
|
NM_000540.3(RYR1):c.4410C>G (p.Val1470=)
|
|
|
NM_000540.3(RYR1):c.4411G>A (p.Val1471Met)
|
|
|
NM_000540.3(RYR1):c.4411G>T (p.Val1471Leu)
|
rs767558988
|
|
NM_000540.3(RYR1):c.4413G>A (p.Val1471=)
|
|
|
NM_000540.3(RYR1):c.4419G>A (p.Val1473=)
|
rs2145503022
|
|
NM_000540.3(RYR1):c.4424T>C (p.Met1475Thr)
|
rs779963151
|
|
NM_000540.3(RYR1):c.4428G>C (p.Gly1476=)
|
|
|
NM_000540.3(RYR1):c.4429G>A (p.Asp1477Asn)
|
rs1968812982
|
|
NM_000540.3(RYR1):c.4430_4437del (p.Asp1477fs)
|
|
|
NM_000540.3(RYR1):c.4435C>T (p.Gln1479Ter)
|
rs1968813234
|
|
NM_000540.3(RYR1):c.4451G>A (p.Ser1484Asn)
|
rs2145503148
|
|
NM_000540.3(RYR1):c.4454+12G>A
|
|
|
NM_000540.3(RYR1):c.4454+12G>C
|
rs1417363157
|
|
NM_000540.3(RYR1):c.4454+12G>T
|
|
|
NM_000540.3(RYR1):c.4454+13G>C
|
|
|
NM_000540.3(RYR1):c.4454+13G>T
|
|
|
NM_000540.3(RYR1):c.4454+17del
|
|
|
NM_000540.3(RYR1):c.4454+20G>T
|
|
|
NM_000540.3(RYR1):c.4454+234dup
|
rs11460009
|
|
NM_000540.3(RYR1):c.4454+25_4454+38del
|
|
|
NM_000540.3(RYR1):c.4454+5C>T
|
rs374116226
|
|
NM_000540.3(RYR1):c.4454+9G>C
|
|
|
NM_000540.3(RYR1):c.4454G>A (p.Ser1485Asn)
|
rs1317036540
|
|
NM_000540.3(RYR1):c.4455-135T>G
|
rs56271299
|
|
NM_000540.3(RYR1):c.4455-13C>T
|
|
|
NM_000540.3(RYR1):c.4455-16C>T
|
|
|
NM_000540.3(RYR1):c.4455-17G>A
|
rs1208610861
|
|
NM_000540.3(RYR1):c.4455-18C>T
|
|
|
NM_000540.3(RYR1):c.4455-19C>T
|
|
|
NM_000540.3(RYR1):c.4455-7C>T
|
rs776234351
|
|
NM_000540.3(RYR1):c.4455_4459dup (p.Lys1487fs)
|
rs1568476007
|
|
NM_000540.3(RYR1):c.4459A>C (p.Lys1487Gln)
|
rs1968852685
|
|
NM_000540.3(RYR1):c.4459A>T (p.Lys1487Ter)
|
|
|
NM_000540.3(RYR1):c.4462T>C (p.Cys1488Arg)
|
rs763317222
|
|
NM_000540.3(RYR1):c.4472G>A (p.Cys1491Tyr)
|
|
|
NM_000540.3(RYR1):c.4476C>T (p.Tyr1492=)
|
rs1968853859
|
|
NM_000540.3(RYR1):c.4477A>G (p.Met1493Val)
|
|
|
NM_000540.3(RYR1):c.4478T>G (p.Met1493Arg)
|
rs1568476094
|
|
NM_000540.3(RYR1):c.447G>A (p.Met149Ile)
|
rs772652844
|
|
NM_000540.3(RYR1):c.4481T>C (p.Val1494Ala)
|
rs767928113
|
|
NM_000540.3(RYR1):c.4482G>A (p.Val1494=)
|
|
|
NM_000540.3(RYR1):c.4482G>T (p.Val1494=)
|
|
|
NM_000540.3(RYR1):c.4485_4500del (p.Val1494_Trp1495insTer)
|
rs886041511
|
|
NM_000540.3(RYR1):c.4486G>T (p.Gly1496Cys)
|
rs760892908
|
|
NM_000540.3(RYR1):c.4491A>C (p.Gly1497=)
|
|
|
NM_000540.3(RYR1):c.4496_4497del (p.Phe1499fs)
|
rs1568476203
|
|
NM_000540.3(RYR1):c.45+19G>C
|
|
|
NM_000540.3(RYR1):c.45+1G>A
|
|
|
NM_000540.3(RYR1):c.45+20G>T
|
|
|
NM_000540.3(RYR1):c.45+22del
|
|
|
NM_000540.3(RYR1):c.45+9C>T
|
|
|
NM_000540.3(RYR1):c.4502G>C (p.Ser1501Thr)
|
|
|
NM_000540.3(RYR1):c.4506C>T (p.Pro1502=)
|
|
|
NM_000540.3(RYR1):c.4515G>A (p.Gln1505=)
|
rs2145506591
|
|
NM_000540.3(RYR1):c.4516G>A (p.Gly1506Ser)
|
|
|
NM_000540.3(RYR1):c.4527C>T (p.Ser1509=)
|
rs1600746945
|
|
NM_000540.3(RYR1):c.4535A>T (p.Asp1512Val)
|
rs2145506709
|
|
NM_000540.3(RYR1):c.4540G>T (p.Val1514Phe)
|
|
|
NM_000540.3(RYR1):c.4547G>A (p.Gly1516Glu)
|
|
|
NM_000540.3(RYR1):c.4550G>A (p.Cys1517Tyr)
|
|
|
NM_000540.3(RYR1):c.4550G>T (p.Cys1517Phe)
|
rs1321260327
|
|
NM_000540.3(RYR1):c.4553T>A (p.Leu1518Gln)
|
|
|
NM_000540.3(RYR1):c.455C>A (p.Ala152Asp)
|
rs1555763641
|
|
NM_000540.3(RYR1):c.4563_4574del (p.Ala1522_Leu1525del)
|
|
|
NM_000540.3(RYR1):c.4571G>A (p.Gly1524Asp)
|
rs1968859372
|
|
NM_000540.3(RYR1):c.4582T>A (p.Phe1528Ile)
|
|
|
NM_000540.3(RYR1):c.4582T>C (p.Phe1528Leu)
|
rs1568476341
|
|
NM_000540.3(RYR1):c.4587A>G (p.Thr1529=)
|
|
|
NM_000540.3(RYR1):c.4588G>A (p.Ala1530Thr)
|
|
|
NM_000540.3(RYR1):c.4590del (p.Asn1531fs)
|
rs1064793254
|
|
NM_000540.3(RYR1):c.4592A>G (p.Asn1531Ser)
|
rs1968860939
|
|
NM_000540.3(RYR1):c.4593T>C (p.Asn1531=)
|
|
|
NM_000540.3(RYR1):c.45G>A (p.Thr15=)
|
|
|
NM_000540.3(RYR1):c.46-10G>C
|
|
|
NM_000540.3(RYR1):c.46-11C>T
|
|
|
NM_000540.3(RYR1):c.46-16C>A
|
|
|
NM_000540.3(RYR1):c.46-18T>C
|
|
|
NM_000540.3(RYR1):c.46-20G>A
|
|
|
NM_000540.3(RYR1):c.46-20G>T
|
|
|
NM_000540.3(RYR1):c.46-4G>A
|
rs201094741
|
|
NM_000540.3(RYR1):c.46-4G>C
|
rs201094741
|
|
NM_000540.3(RYR1):c.46-4G>T
|
rs201094741
|
|
NM_000540.3(RYR1):c.46-9G>A
|
rs2145320130
|
|
NM_000540.3(RYR1):c.4602G>A (p.Glu1534=)
|
|
|
NM_000540.3(RYR1):c.4608C>T (p.Asn1536=)
|
|
|
NM_000540.3(RYR1):c.4609A>G (p.Thr1537Ala)
|
|
|
NM_000540.3(RYR1):c.4613T>C (p.Phe1538Ser)
|
|
|
NM_000540.3(RYR1):c.4620+11G>A
|
|
|
NM_000540.3(RYR1):c.4620+20A>C
|
rs369296687
|
|
NM_000540.3(RYR1):c.4620+20A>G
|
|
|
NM_000540.3(RYR1):c.4620+7C>G
|
|
|
NM_000540.3(RYR1):c.4620+9A>T
|
|
|
NM_000540.3(RYR1):c.4621-12C>G
|
|
|
NM_000540.3(RYR1):c.4621-12C>T
|
rs886038332
|
|
NM_000540.3(RYR1):c.4621-16T>C
|
|
|
NM_000540.3(RYR1):c.4621-17C>T
|
|
|
NM_000540.3(RYR1):c.4621-20G>A
|
|
|
NM_000540.3(RYR1):c.4621-36C>T
|
rs886038333
|
|
NM_000540.3(RYR1):c.4621-9_4621-7del
|
rs1413000730
|
|
NM_000540.3(RYR1):c.4623G>A (p.Val1541=)
|
|
|
NM_000540.3(RYR1):c.4626A>G (p.Glu1542=)
|
|
|
NM_000540.3(RYR1):c.4627C>G (p.Pro1543Ala)
|
rs2145527385
|
|
NM_000540.3(RYR1):c.4638G>A (p.Lys1546=)
|
rs2145527483
|
|
NM_000540.3(RYR1):c.463C>A (p.Gln155Lys)
|
rs193922750
|
|
NM_000540.3(RYR1):c.4641A>G (p.Leu1547=)
|
|
|
NM_000540.3(RYR1):c.4651G>A (p.Val1551Ile)
|
|
|
NM_000540.3(RYR1):c.4656C>T (p.Phe1552=)
|
rs1401779403
|
|
NM_000540.3(RYR1):c.4659C>T (p.Val1553=)
|
|
|
NM_000540.3(RYR1):c.4664C>T (p.Pro1555Leu)
|
rs1600760832
|
|
NM_000540.3(RYR1):c.4665del (p.Thr1556fs)
|
|
|
NM_000540.3(RYR1):c.4672C>T (p.Gln1558Ter)
|
rs1064793717
|
|
NM_000540.3(RYR1):c.4676A>T (p.Asn1559Ile)
|
rs1969094075
|
|
NM_000540.3(RYR1):c.467G>A (p.Arg156Lys)
|
rs193922751
|
|
NM_000540.3(RYR1):c.4680C>T (p.Val1560=)
|
rs1286297212
|
|
NM_000540.3(RYR1):c.4682T>A (p.Ile1561Asn)
|
rs1057518453
|
|
NM_000540.3(RYR1):c.468G>A (p.Arg156=)
|
|
|
NM_000540.3(RYR1):c.4691A>C (p.Glu1564Ala)
|
|
|
NM_000540.3(RYR1):c.4695G>A (p.Leu1565=)
|
|
|
NM_000540.3(RYR1):c.4704G>A (p.Gln1568=)
|
|
|
NM_000540.3(RYR1):c.4707+11A>C
|
|
|
NM_000540.3(RYR1):c.4707+13T>C
|
|
|
NM_000540.3(RYR1):c.4707+19_4707+21del
|
|
|
NM_000540.3(RYR1):c.4707+1G>A
|
rs1568480914
|
|
NM_000540.3(RYR1):c.4707+20G>A
|
|
|
NM_000540.3(RYR1):c.4707+4C>A
|
|
|
NM_000540.3(RYR1):c.4707+7G>A
|
|
|
NM_000540.3(RYR1):c.4707+7G>C
|
|
|
NM_000540.3(RYR1):c.4708-14C>G
|
|
|
NM_000540.3(RYR1):c.4708-15TC[2]
|
rs1477985044
|
|
NM_000540.3(RYR1):c.4708-16G>T
|
|
|
NM_000540.3(RYR1):c.4708-1G>C
|
|
|
NM_000540.3(RYR1):c.4717C>T (p.Pro1573Ser)
|
rs1131691497
|
|
NM_000540.3(RYR1):c.4719G>T (p.Pro1573=)
|
|
|
NM_000540.3(RYR1):c.4724C>T (p.Ser1575Leu)
|
|
|
NM_000540.3(RYR1):c.4728C>T (p.Ala1576=)
|
|
|
NM_000540.3(RYR1):c.4733T>G (p.Met1578Arg)
|
rs2145528779
|
|
NM_000540.3(RYR1):c.4737C>T (p.Phe1579=)
|
|
|
NM_000540.3(RYR1):c.4740A>G (p.Gln1580=)
|
|
|
NM_000540.3(RYR1):c.4748G>T (p.Arg1583Leu)
|
rs778411704
|
|
NM_000540.3(RYR1):c.4759G>C (p.Ala1587Pro)
|
|
|
NM_000540.3(RYR1):c.475G>A (p.Gly159Arg)
|
rs1555763657
|
|
NM_000540.3(RYR1):c.4761C>A (p.Ala1587=)
|
|
|
NM_000540.3(RYR1):c.4764G>T (p.Pro1588=)
|
|
|
NM_000540.3(RYR1):c.4770C>T (p.Cys1590=)
|
|
|
NM_000540.3(RYR1):c.4775C>A (p.Pro1592Gln)
|
rs193922777
|
|
NM_000540.3(RYR1):c.477A>T (p.Gly159=)
|
|
|
NM_000540.3(RYR1):c.4780C>G (p.Leu1594Val)
|
|
|
NM_000540.3(RYR1):c.4789C>T (p.Gln1597Ter)
|
rs1568481364
|
|
NM_000540.3(RYR1):c.4791G>C (p.Gln1597His)
|
|
|
NM_000540.3(RYR1):c.4792A>G (p.Met1598Val)
|
rs2145529267
|
|
NM_000540.3(RYR1):c.4794G>T (p.Met1598Ile)
|
rs768798878
|
|
NM_000540.3(RYR1):c.4797G>C (p.Leu1599=)
|
|
|
NM_000540.3(RYR1):c.479A>C (p.Glu160Ala)
|
rs193922752
|
|
NM_000540.3(RYR1):c.479A>G (p.Glu160Gly)
|
rs193922752
|
|
NM_000540.3(RYR1):c.47A>G (p.Asp16Gly)
|
|
|
NM_000540.3(RYR1):c.4801C>A (p.Pro1601Thr)
|
|
|
NM_000540.3(RYR1):c.4816C>A (p.Arg1606Ser)
|
rs774316371
|
|
NM_000540.3(RYR1):c.4826A>G (p.Asn1609Ser)
|
|
|
NM_000540.3(RYR1):c.4827C>T (p.Asn1609=)
|
|
|
NM_000540.3(RYR1):c.4833C>A (p.Phe1611Leu)
|
rs1969115421
|
|
NM_000540.3(RYR1):c.4836G>A (p.Leu1612=)
|
rs1383730533
|
|
NM_000540.3(RYR1):c.4837C>T (p.Gln1613Ter)
|
rs1332371891
|
|
NM_000540.3(RYR1):c.4846A>C (p.Thr1616Pro)
|
rs2145529610
|
|
NM_000540.3(RYR1):c.4848G>C (p.Thr1616=)
|
|
|
NM_000540.3(RYR1):c.4852_4879del (p.Arg1618fs)
|
|
|
NM_000540.3(RYR1):c.4860C>T (p.Gly1620=)
|
|
|
NM_000540.3(RYR1):c.4861G>A (p.Glu1621Lys)
|
rs1398897130
|
|
NM_000540.3(RYR1):c.4864C>T (p.Arg1622Trp)
|
rs756481315
|
|
NM_000540.3(RYR1):c.486C>T (p.Val162=)
|
|
|
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>A (p.Arg163Ser)
|
rs118192161
|
|
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.4896G>A (p.Pro1632=)
|
|
|
NM_000540.3(RYR1):c.4896G>T (p.Pro1632=)
|
|
|
NM_000540.3(RYR1):c.489C>T (p.Arg163=)
|
rs199855033
|
|
NM_000540.3(RYR1):c.48C>T (p.Asp16=)
|
|
|
NM_000540.3(RYR1):c.4903A>T (p.Met1635Leu)
|
|
|
NM_000540.3(RYR1):c.4907T>A (p.Met1636Lys)
|
rs1969121315
|
|
NM_000540.3(RYR1):c.4908G>A (p.Met1636Ile)
|
|
|
NM_000540.3(RYR1):c.490G>A (p.Val164Ile)
|
|
|
NM_000540.3(RYR1):c.490G>T (p.Val164Phe)
|
rs776807425
|
|
NM_000540.3(RYR1):c.4912C>T (p.Leu1638=)
|
rs2145530282
|
|
NM_000540.3(RYR1):c.4915C>T (p.His1639Tyr)
|
rs1969121916
|
|
NM_000540.3(RYR1):c.4920C>T (p.Ile1640=)
|
|
|
NM_000540.3(RYR1):c.4933C>T (p.Arg1645Trp)
|
|
|
NM_000540.3(RYR1):c.4934+5G>C
|
|
|
NM_000540.3(RYR1):c.4934+8C>A
|
|
|
NM_000540.3(RYR1):c.4934G>T (p.Arg1645Leu)
|
rs193922778
|
|
NM_000540.3(RYR1):c.4935-11C>A
|
|
|
NM_000540.3(RYR1):c.4935-11C>T
|
|
|
NM_000540.3(RYR1):c.4935-12C>T
|
|
|
NM_000540.3(RYR1):c.4935-15C>A
|
rs2145541377
|
|
NM_000540.3(RYR1):c.4935-1G>A
|
|
|
NM_000540.3(RYR1):c.4935-1G>C
|
|
|
NM_000540.3(RYR1):c.4935-20G>A
|
|
|
NM_000540.3(RYR1):c.4935-20G>C
|
|
|
NM_000540.3(RYR1):c.4935-2A>T
|
rs1969238474
|
|
NM_000540.3(RYR1):c.4935-7G>C
|
rs1205439638
|
|
NM_000540.3(RYR1):c.4935-9C>T
|
|
|
NM_000540.3(RYR1):c.4939A>G (p.Met1647Val)
|
|
|
NM_000540.3(RYR1):c.493G>A (p.Gly165Arg)
|
rs193922754
|
|
NM_000540.3(RYR1):c.4940T>C (p.Met1647Thr)
|
|
|
NM_000540.3(RYR1):c.4948C>T (p.Leu1650=)
|
|
|
NM_000540.3(RYR1):c.4949T>C (p.Leu1650Pro)
|
|
|
NM_000540.3(RYR1):c.4956G>A (p.Leu1652=)
|
|
|
NM_000540.3(RYR1):c.4959G>A (p.Ser1653=)
|
|
|
NM_000540.3(RYR1):c.4963C>A (p.Arg1655Ser)
|
|
|
NM_000540.3(RYR1):c.4964G>T (p.Arg1655Leu)
|
rs781159223
|
|
NM_000540.3(RYR1):c.496G>A (p.Asp166Asn)
|
rs193922755
|
|
NM_000540.3(RYR1):c.4972C>T (p.Leu1658=)
|
|
|
NM_000540.3(RYR1):c.497A>G (p.Asp166Gly)
|
rs193922756
|
|
NM_000540.3(RYR1):c.4983C>T (p.Phe1661=)
|
|
|
NM_000540.3(RYR1):c.4985A>G (p.His1662Arg)
|
rs1969242394
|
|
NM_000540.3(RYR1):c.4986C>T (p.His1662=)
|
rs1316895692
|
|
NM_000540.3(RYR1):c.498T>C (p.Asp166=)
|
rs2145338811
|
|
NM_000540.3(RYR1):c.4995C>G (p.Thr1665=)
|
|
|
NM_000540.3(RYR1):c.5002C>T (p.Leu1668Phe)
|
|
|
NM_000540.3(RYR1):c.5002_5028del (p.Leu1668_Gly1676del)
|
rs751866564
|
|
NM_000540.3(RYR1):c.5005T>C (p.Tyr1669His)
|
|
|
NM_000540.3(RYR1):c.5008C>T (p.Arg1670Cys)
|
rs1182258955
|
|
NM_000540.3(RYR1):c.5010C>T (p.Arg1670=)
|
rs572326211
|
|
NM_000540.3(RYR1):c.5011G>A (p.Ala1671Thr)
|
rs1316064829
|
|
NM_000540.3(RYR1):c.5015T>A (p.Val1672Glu)
|
|
|
NM_000540.3(RYR1):c.5017T>C (p.Cys1673Arg)
|
rs1568484165
|
|
NM_000540.3(RYR1):c.5017T>G (p.Cys1673Gly)
|
|
|
NM_000540.3(RYR1):c.5022C>T (p.Ala1674=)
|
|
|
NM_000540.3(RYR1):c.5024T>C (p.Leu1675Pro)
|
rs2145542250
|
|
NM_000540.3(RYR1):c.5025G>C (p.Leu1675=)
|
rs886054388
|
|
NM_000540.3(RYR1):c.502A>G (p.Ile168Val)
|
|
|
NM_000540.3(RYR1):c.5037C>T (p.Arg1679=)
|
|
|
NM_000540.3(RYR1):c.5040G>A (p.Val1680=)
|
rs1969247792
|
|
NM_000540.3(RYR1):c.5042C>A (p.Ala1681Glu)
|
|
|
NM_000540.3(RYR1):c.5042C>T (p.Ala1681Val)
|
rs1032892846
|
|
NM_000540.3(RYR1):c.5043G>A (p.Ala1681=)
|
|
|
NM_000540.3(RYR1):c.5044C>A (p.His1682Asn)
|
rs748851710
|
|
NM_000540.3(RYR1):c.5049T>A (p.Ala1683=)
|
|
|
NM_000540.3(RYR1):c.504C>T (p.Ile168=)
|
|
|
NM_000540.3(RYR1):c.5053T>C (p.Cys1685Arg)
|
|
|
NM_000540.3(RYR1):c.5053T>G (p.Cys1685Gly)
|
|
|
NM_000540.3(RYR1):c.5054G>A (p.Cys1685Tyr)
|
|
|
NM_000540.3(RYR1):c.5055C>G (p.Cys1685Trp)
|
rs761393058
|
|
NM_000540.3(RYR1):c.5058C>T (p.Ser1686=)
|
rs1349866514
|
|
NM_000540.3(RYR1):c.5062G>A (p.Val1688Ile)
|
|
|
NM_000540.3(RYR1):c.5077_5078delinsG (p.Leu1693fs)
|
rs1600770908
|
|
NM_000540.3(RYR1):c.5089C>T (p.Leu1697=)
|
|
|
NM_000540.3(RYR1):c.5096A>G (p.Asp1699Gly)
|
|
|
NM_000540.3(RYR1):c.5096_5097delinsGA (p.Asp1699Gly)
|
|
|
NM_000540.3(RYR1):c.5097C>T (p.Asp1699=)
|
|
|
NM_000540.3(RYR1):c.5100G>A (p.Ala1700=)
|
|
|
NM_000540.3(RYR1):c.5100G>C (p.Ala1700=)
|
rs367860602
|
|
NM_000540.3(RYR1):c.5101C>T (p.His1701Tyr)
|
|
|
NM_000540.3(RYR1):c.5106G>T (p.Leu1702=)
|
|
|
NM_000540.3(RYR1):c.5107C>T (p.Pro1703Ser)
|
|
|
NM_000540.3(RYR1):c.5109A>C (p.Pro1703=)
|
rs200556164
|
|
NM_000540.3(RYR1):c.5109A>T (p.Pro1703=)
|
|
|
NM_000540.3(RYR1):c.5110G>A (p.Gly1704Ser)
|
rs193922779
|
|
NM_000540.3(RYR1):c.5115A>G (p.Pro1705=)
|
|
|
NM_000540.3(RYR1):c.5118G>A (p.Leu1706=)
|
rs2145542917
|
|
NM_000540.3(RYR1):c.5119C>T (p.Arg1707Cys)
|
|
|
NM_000540.3(RYR1):c.5121C>T (p.Arg1707=)
|
rs749086771
|
|
NM_000540.3(RYR1):c.5127C>T (p.Gly1709=)
|
|
|
NM_000540.3(RYR1):c.5132A>C (p.Tyr1711Ser)
|
rs754785770
|
|
NM_000540.3(RYR1):c.5134G>A (p.Asp1712Asn)
|
rs2145543035
|
|
NM_000540.3(RYR1):c.5136C>T (p.Asp1712=)
|
|
|
NM_000540.3(RYR1):c.5142C>T (p.Leu1714=)
|
|
|
NM_000540.3(RYR1):c.5147G>C (p.Ser1716Thr)
|
|
|
NM_000540.3(RYR1):c.5148C>T (p.Ser1716=)
|
|
|
NM_000540.3(RYR1):c.514_519del (p.171VS[1])
|
rs794727779
|
|
NM_000540.3(RYR1):c.5150T>G (p.Ile1717Ser)
|
rs1568484483
|
|
NM_000540.3(RYR1):c.5157C>T (p.Leu1719=)
|
|
|
NM_000540.3(RYR1):c.5158G>T (p.Glu1720Ter)
|
|
|
NM_000540.3(RYR1):c.5159A>G (p.Glu1720Gly)
|
|
|
NM_000540.3(RYR1):c.5164G>A (p.Ala1722Thr)
|
|
|
NM_000540.3(RYR1):c.5166C>T (p.Ala1722=)
|
rs1395096712
|
|
NM_000540.3(RYR1):c.5171G>A (p.Arg1724His)
|
|
|
NM_000540.3(RYR1):c.5176C>T (p.Arg1726Cys)
|
|
|
NM_000540.3(RYR1):c.5178C>T (p.Arg1726=)
|
|
|
NM_000540.3(RYR1):c.5179C>G (p.Arg1727Gly)
|
rs764448031
|
|
NM_000540.3(RYR1):c.5182T>C (p.Ser1728Pro)
|
rs193922780
|
|
NM_000540.3(RYR1):c.5186T>G (p.Met1729Arg)
|
rs193922782
|
|
NM_000540.3(RYR1):c.518T>C (p.Val173Ala)
|
rs763950469
|
|
NM_000540.3(RYR1):c.5190C>G (p.Leu1730=)
|
|
|
NM_000540.3(RYR1):c.5193T>C (p.Ser1731=)
|
|
|
NM_000540.3(RYR1):c.5195A>C (p.Glu1732Ala)
|
rs1969259923
|
|
NM_000540.3(RYR1):c.5196A>T (p.Glu1732Asp)
|
rs2145543462
|
|
NM_000540.3(RYR1):c.51_53del (p.Asp17del)
|
rs193922745
|
|
NM_000540.3(RYR1):c.5202C>A (p.Ile1734=)
|
rs920140360
|
|
NM_000540.3(RYR1):c.5205G>C (p.Val1735=)
|
|
|
NM_000540.3(RYR1):c.5206C>A (p.Pro1736Thr)
|
|
|
NM_000540.3(RYR1):c.5206C>T (p.Pro1736Ser)
|
|
|
NM_000540.3(RYR1):c.5207C>T (p.Pro1736Leu)
|
|
|
NM_000540.3(RYR1):c.5208C>T (p.Pro1736=)
|
rs747749981
|
|
NM_000540.3(RYR1):c.5214G>A (p.Thr1738=)
|
|
|
NM_000540.3(RYR1):c.5218G>A (p.Glu1740Lys)
|
|
|
NM_000540.3(RYR1):c.5218G>T (p.Glu1740Ter)
|
rs1169938399
|
|
NM_000540.3(RYR1):c.5222C>T (p.Thr1741Ile)
|
|
|
NM_000540.3(RYR1):c.5223C>G (p.Thr1741=)
|
|
|
NM_000540.3(RYR1):c.5225G>A (p.Arg1742His)
|
|
|
NM_000540.3(RYR1):c.5227G>A (p.Ala1743Thr)
|
|
|
NM_000540.3(RYR1):c.5230A>G (p.Ile1744Val)
|
rs2145543717
|
|
NM_000540.3(RYR1):c.5232C>T (p.Ile1744=)
|
|
|
NM_000540.3(RYR1):c.5234C>G (p.Thr1745Arg)
|
rs377476955
|
|
NM_000540.3(RYR1):c.5238C>T (p.Leu1746=)
|
|
|
NM_000540.3(RYR1):c.5242C>T (p.Pro1748Ser)
|
|
|
NM_000540.3(RYR1):c.5247T>C (p.Pro1749=)
|
|
|
NM_000540.3(RYR1):c.5250A>G (p.Gly1750=)
|
|
|
NM_000540.3(RYR1):c.5256C>T (p.Ser1752=)
|
rs1568484705
|
|
NM_000540.3(RYR1):c.5257A>G (p.Thr1753Ala)
|
|
|
NM_000540.3(RYR1):c.5258C>T (p.Thr1753Ile)
|
|
|
NM_000540.3(RYR1):c.5271C>A (p.His1757Gln)
|
|
|
NM_000540.3(RYR1):c.5271C>T (p.His1757=)
|
|
|
NM_000540.3(RYR1):c.5277G>A (p.Arg1759=)
|
rs2145544017
|
|
NM_000540.3(RYR1):c.5279A>T (p.His1760Leu)
|
|
|
NM_000540.3(RYR1):c.527A>G (p.Glu176Gly)
|
rs2145338967
|
|
NM_000540.3(RYR1):c.5282G>A (p.Gly1761Asp)
|
|
|
NM_000540.3(RYR1):c.5283C>G (p.Gly1761=)
|
|
|
NM_000540.3(RYR1):c.5283C>T (p.Gly1761=)
|
|
|
NM_000540.3(RYR1):c.5286G>C (p.Leu1762=)
|
|
|
NM_000540.3(RYR1):c.5288C>T (p.Pro1763Leu)
|
rs1335007839
|
|
NM_000540.3(RYR1):c.528G>A (p.Glu176=)
|
|
|
NM_000540.3(RYR1):c.528G>T (p.Glu176Asp)
|
rs1568436081
|
|
NM_000540.3(RYR1):c.5303C>T (p.Thr1768Ile)
|
|
|
NM_000540.3(RYR1):c.5306C>T (p.Thr1769Ile)
|
rs1600772418
|
|
NM_000540.3(RYR1):c.5307T>C (p.Thr1769=)
|
|
|
NM_000540.3(RYR1):c.5308T>G (p.Ser1770Ala)
|
rs571494344
|
|
NM_000540.3(RYR1):c.5309C>A (p.Ser1770Ter)
|
rs398123472
|
|
NM_000540.3(RYR1):c.5309C>T (p.Ser1770Leu)
|
rs398123472
|
|
NM_000540.3(RYR1):c.530G>A (p.Arg177His)
|
|
|
NM_000540.3(RYR1):c.5310G>A (p.Ser1770=)
|
rs1600772466
|
|
NM_000540.3(RYR1):c.5310G>T (p.Ser1770=)
|
|
|
NM_000540.3(RYR1):c.5311C>A (p.Leu1771Met)
|
rs2145544214
|
|
NM_000540.3(RYR1):c.5314A>C (p.Arg1772=)
|
|
|
NM_000540.3(RYR1):c.5315G>C (p.Arg1772Thr)
|
rs1568484843
|
|
NM_000540.3(RYR1):c.5317C>G (p.Pro1773Ala)
|
rs192863857
|
|
NM_000540.3(RYR1):c.5318C>G (p.Pro1773Arg)
|
rs1969269453
|
|
NM_000540.3(RYR1):c.5319C>T (p.Pro1773=)
|
rs762262632
|
|
NM_000540.3(RYR1):c.5322G>A (p.Pro1774=)
|
rs572516017
|
|
NM_000540.3(RYR1):c.5322G>T (p.Pro1774=)
|
|
|
NM_000540.3(RYR1):c.532T>C (p.Tyr178His)
|
rs1568436105
|
|
NM_000540.3(RYR1):c.5333C>A (p.Ser1778Ter)
|
rs367543055
|
|
NM_000540.3(RYR1):c.5333C>T (p.Ser1778Leu)
|
rs367543055
|
|
NM_000540.3(RYR1):c.5334G>A (p.Ser1778=)
|
rs35566549
|
|
NM_000540.3(RYR1):c.5335C>T (p.Pro1779Ser)
|
|
|
NM_000540.3(RYR1):c.5339C>A (p.Pro1780His)
|
|
|
NM_000540.3(RYR1):c.5339C>G (p.Pro1780Arg)
|
rs369480385
|
|
NM_000540.3(RYR1):c.5339C>T (p.Pro1780Leu)
|
|
|
NM_000540.3(RYR1):c.533A>C (p.Tyr178Ser)
|
rs193922758
|
|
NM_000540.3(RYR1):c.533A>G (p.Tyr178Cys)
|
rs193922758
|
|
NM_000540.3(RYR1):c.533A>T (p.Tyr178Phe)
|
rs193922758
|
|
NM_000540.3(RYR1):c.5340dup (p.Cys1781fs)
|
rs1969271215
|
|
NM_000540.3(RYR1):c.5347G>A (p.Val1783Met)
|
rs375160141
|
|
NM_000540.3(RYR1):c.5347G>T (p.Val1783Leu)
|
|
|
NM_000540.3(RYR1):c.5352C>A (p.Ala1784=)
|
rs373382967
|
|
NM_000540.3(RYR1):c.5352C>T (p.Ala1784=)
|
rs373382967
|
|
NM_000540.3(RYR1):c.5358G>A (p.Leu1786=)
|
|
|
NM_000540.3(RYR1):c.535C>T (p.Leu179=)
|
rs2145339041
|
|
NM_000540.3(RYR1):c.537+11del
|
|
|
NM_000540.3(RYR1):c.537+12C>A
|
rs779869638
|
|
NM_000540.3(RYR1):c.537+13G>T
|
|
|
NM_000540.3(RYR1):c.5379G>A (p.Glu1793=)
|
rs1322394196
|
|
NM_000540.3(RYR1):c.538-10T>C
|
|
|
NM_000540.3(RYR1):c.538-12_538-11insCCATCCTG
|
|
|
NM_000540.3(RYR1):c.538-14C>A
|
|
|
NM_000540.3(RYR1):c.538-15C>A
|
|
|
NM_000540.3(RYR1):c.538-17A>G
|
|
|
NM_000540.3(RYR1):c.538-17A>T
|
|
|
NM_000540.3(RYR1):c.538-19G>A
|
|
|
NM_000540.3(RYR1):c.538-19G>T
|
|
|
NM_000540.3(RYR1):c.538-3C>G
|
|
|
NM_000540.3(RYR1):c.538-3del
|
|
|
NM_000540.3(RYR1):c.538-5C>T
|
rs2145340575
|
|
NM_000540.3(RYR1):c.538-6C>T
|
|
|
NM_000540.3(RYR1):c.538-7C>G
|
|
|
NM_000540.3(RYR1):c.538-9G>C
|
|
|
NM_000540.3(RYR1):c.5385G>A (p.Pro1795=)
|
rs772422894
|
|
NM_000540.3(RYR1):c.5387C>A (p.Ala1796Asp)
|
|
|
NM_000540.3(RYR1):c.5388C>G (p.Ala1796=)
|
|
|
NM_000540.3(RYR1):c.5389C>T (p.Arg1797Cys)
|
|
|
NM_000540.3(RYR1):c.5390G>A (p.Arg1797His)
|
rs2145544735
|
|
NM_000540.3(RYR1):c.5394C>T (p.Leu1798=)
|
|
|
NM_000540.3(RYR1):c.5398C>T (p.Pro1800Ser)
|
rs2145544772
|
|
NM_000540.3(RYR1):c.5409G>A (p.Pro1803=)
|
|
|
NM_000540.3(RYR1):c.5409G>C (p.Pro1803=)
|
|
|
NM_000540.3(RYR1):c.5409G>T (p.Pro1803=)
|
rs747211958
|
|
NM_000540.3(RYR1):c.5415G>A (p.Glu1805=)
|
|
|
NM_000540.3(RYR1):c.5424G>A (p.Arg1808=)
|
|
|
NM_000540.3(RYR1):c.5430G>A (p.Lys1810=)
|
rs2145544942
|
|
NM_000540.3(RYR1):c.5431G>T (p.Ala1811Ser)
|
|
|
NM_000540.3(RYR1):c.5435T>C (p.Leu1812Pro)
|
rs1969278145
|
|
NM_000540.3(RYR1):c.5436G>A (p.Leu1812=)
|
|
|
NM_000540.3(RYR1):c.5438G>T (p.Arg1813Met)
|
rs886054389
|
|
NM_000540.3(RYR1):c.5440A>G (p.Met1814Val)
|
rs2145545032
|
|
NM_000540.3(RYR1):c.5441T>A (p.Met1814Lys)
|
rs193922783
|
|
NM_000540.3(RYR1):c.5449del (p.Glu1817fs)
|
rs2145545066
|
|
NM_000540.3(RYR1):c.5454G>A (p.Ala1818=)
|
|
|
NM_000540.3(RYR1):c.5454G>C (p.Ala1818=)
|
rs773985391
|
|
NM_000540.3(RYR1):c.5458C>T (p.Arg1820Cys)
|
|
|
NM_000540.3(RYR1):c.545C>G (p.Ser182Trp)
|
|
|
NM_000540.3(RYR1):c.545C>T (p.Ser182Leu)
|
|
|
NM_000540.3(RYR1):c.5460C>T (p.Arg1820=)
|
rs1193082244
|
|
NM_000540.3(RYR1):c.5463C>T (p.Asp1821=)
|
|
|
NM_000540.3(RYR1):c.5464G>A (p.Gly1822Ser)
|
rs1169294876
|
|
NM_000540.3(RYR1):c.5465G>A (p.Gly1822Asp)
|
|
|
NM_000540.3(RYR1):c.5468G>C (p.Gly1823Ala)
|
|
|
NM_000540.3(RYR1):c.5469G>A (p.Gly1823=)
|
rs886038336
|
|
NM_000540.3(RYR1):c.5471A>C (p.Gln1824Pro)
|
|
|
NM_000540.3(RYR1):c.5478T>C (p.Ala1826=)
|
|
|
NM_000540.3(RYR1):c.5480G>A (p.Arg1827His)
|
|
|
NM_000540.3(RYR1):c.5481C>T (p.Arg1827=)
|
rs1600773533
|
|
NM_000540.3(RYR1):c.5487del (p.Val1830fs)
|
rs887506743
|
|
NM_000540.3(RYR1):c.5492G>C (p.Gly1831Ala)
|
rs1290969196
|
|
NM_000540.3(RYR1):c.5495G>C (p.Gly1832Ala)
|
rs193922784
|
|
NM_000540.3(RYR1):c.5496C>A (p.Gly1832=)
|
|
|
NM_000540.3(RYR1):c.5499C>T (p.Ser1833=)
|
|
|
NM_000540.3(RYR1):c.54G>A (p.Glu18=)
|
rs1389217484
|
|
NM_000540.3(RYR1):c.5503G>A (p.Glu1835Lys)
|
rs1600773722
|
|
NM_000540.3(RYR1):c.5505G>A (p.Glu1835=)
|
|
|
NM_000540.3(RYR1):c.5509C>T (p.Gln1837Ter)
|
rs1249942711
|
|
NM_000540.3(RYR1):c.5509_5510del (p.Gln1837fs)
|
rs1555779450
|
|
NM_000540.3(RYR1):c.5525T>C (p.Leu1842Pro)
|
rs886054390
|
|
NM_000540.3(RYR1):c.5526C>G (p.Leu1842=)
|
|
|
NM_000540.3(RYR1):c.5528A>T (p.Lys1843Met)
|
|
|
NM_000540.3(RYR1):c.5529G>T (p.Lys1843Asn)
|
|
|
NM_000540.3(RYR1):c.5533G>C (p.Val1845Leu)
|
rs926669024
|
|
NM_000540.3(RYR1):c.5540C>A (p.Thr1847Asn)
|
rs1456354042
|
|
NM_000540.3(RYR1):c.5547+11C>T
|
|
|
NM_000540.3(RYR1):c.5547+12C>T
|
|
|
NM_000540.3(RYR1):c.5547+17G>C
|
|
|
NM_000540.3(RYR1):c.5547+7G>T
|
rs548855109
|
|
NM_000540.3(RYR1):c.5548-16A>G
|
|
|
NM_000540.3(RYR1):c.5548-18C>T
|
|
|
NM_000540.3(RYR1):c.5548-19C>A
|
|
|
NM_000540.3(RYR1):c.5548-4G>C
|
|
|
NM_000540.3(RYR1):c.5548-5T>C
|
|
|
NM_000540.3(RYR1):c.5550G>T (p.Val1850=)
|
|
|
NM_000540.3(RYR1):c.5556C>A (p.Gly1852=)
|
|
|
NM_000540.3(RYR1):c.5557A>C (p.Ile1853Leu)
|
|
|
NM_000540.3(RYR1):c.5559C>G (p.Ile1853Met)
|
|
|
NM_000540.3(RYR1):c.5562T>C (p.Phe1854=)
|
|
|
NM_000540.3(RYR1):c.5568T>C (p.Asp1856=)
|
|
|
NM_000540.3(RYR1):c.556G>C (p.Gly186Arg)
|
|
|
NM_000540.3(RYR1):c.5571G>A (p.Glu1857=)
|
|
|
NM_000540.3(RYR1):c.5577G>T (p.Val1859=)
|
rs1600783535
|
|
NM_000540.3(RYR1):c.557G>A (p.Gly186Glu)
|
|
|
NM_000540.3(RYR1):c.5581C>G (p.Gln1861Glu)
|
rs2145558294
|
|
NM_000540.3(RYR1):c.5584A>C (p.Ile1862Leu)
|
rs886054391
|
|
NM_000540.3(RYR1):c.5584A>G (p.Ile1862Val)
|
|
|
NM_000540.3(RYR1):c.559G>A (p.Glu187Lys)
|
rs1014768250
|
|
NM_000540.3(RYR1):c.5604T>C (p.Pro1868=)
|
|
|
NM_000540.3(RYR1):c.5607G>A (p.Glu1869=)
|
|
|
NM_000540.3(RYR1):c.5607G>T (p.Glu1869Asp)
|
rs1043076830
|
|
NM_000540.3(RYR1):c.5608G>A (p.Val1870Ile)
|
rs1027874000
|
|
NM_000540.3(RYR1):c.5608G>C (p.Val1870Leu)
|
|
|
NM_000540.3(RYR1):c.5615C>A (p.Thr1872Asn)
|
|
|
NM_000540.3(RYR1):c.5616T>C (p.Thr1872=)
|
|
|
NM_000540.3(RYR1):c.5617G>A (p.Glu1873Lys)
|
|
|
NM_000540.3(RYR1):c.5618del (p.Glu1873fs)
|
rs1600783776
|
|
NM_000540.3(RYR1):c.5619G>A (p.Glu1873=)
|
rs193922785
|
|
NM_000540.3(RYR1):c.561G>A (p.Glu187=)
|
rs1016333794
|
|
NM_000540.3(RYR1):c.5620G>A (p.Glu1874Lys)
|
rs1969440508
|
|
NM_000540.3(RYR1):c.5622_5633dup (p.Glu1878_Asp1879insGluGluGluGlu)
|
|
|
NM_000540.3(RYR1):c.5623G>C (p.Glu1875Gln)
|
rs991483787
|
|
NM_000540.3(RYR1):c.5625A>G (p.Glu1875=)
|
|
|
NM_000540.3(RYR1):c.5625_5648del (p.Glu1876_Glu1883del)
|
|
|
NM_000540.3(RYR1):c.5628G>A (p.Glu1876=)
|
rs868445318
|
|
NM_000540.3(RYR1):c.5628GGA[2] (p.Glu1878del)
|
rs371047178
|
|
NM_000540.3(RYR1):c.5638G>C (p.Glu1880Gln)
|
rs777733662
|
|
NM_000540.3(RYR1):c.5643G>C (p.Glu1881Asp)
|
|
|
NM_000540.3(RYR1):c.5649G>A (p.Glu1883=)
|
|
|
NM_000540.3(RYR1):c.5650G>A (p.Gly1884Ser)
|
rs776093828
|
|
NM_000540.3(RYR1):c.5651G>A (p.Gly1884Asp)
|
|
|
NM_000540.3(RYR1):c.5661A>G (p.Glu1887=)
|
|
|
NM_000540.3(RYR1):c.5662G>A (p.Asp1888Asn)
|
rs2145558689
|
|
NM_000540.3(RYR1):c.5665GAG[2] (p.Glu1891del)
|
rs559371263
|
|
NM_000540.3(RYR1):c.5666A>G (p.Glu1889Gly)
|
|
|
NM_000540.3(RYR1):c.5670G>A (p.Glu1890=)
|
rs768126989
|
|
NM_000540.3(RYR1):c.5670_5720dup (p.Glu1907_Lys1908insGluLysGluGluAspGluGluGluThrAlaGlnGluLysGluAspGluGlu)
|
|
|
NM_000540.3(RYR1):c.5674_5676del (p.Lys1892del)
|
rs587784377
|
|
NM_000540.3(RYR1):c.5680G>A (p.Glu1894Lys)
|
rs1568488417
|
|
NM_000540.3(RYR1):c.5688GGA[1] (p.Glu1898del)
|
rs772076294
|
|
NM_000540.3(RYR1):c.5690A>T (p.Glu1897Val)
|
|
|
NM_000540.3(RYR1):c.5691_5720del (p.Glu1898_Glu1907del)
|
|
|
NM_000540.3(RYR1):c.5696C>G (p.Thr1899Arg)
|
rs1969447091
|
|
NM_000540.3(RYR1):c.5699C>T (p.Ala1900Val)
|
|
|
NM_000540.3(RYR1):c.5708A>C (p.Lys1903Thr)
|
rs1600784403
|
|
NM_000540.3(RYR1):c.5714A>G (p.Asp1905Gly)
|
rs2145559025
|
|
NM_000540.3(RYR1):c.5721A>G (p.Glu1907=)
|
|
|
NM_000540.3(RYR1):c.5736G>A (p.Glu1912=)
|
rs753416949
|
|
NM_000540.3(RYR1):c.5738CAG[1] (p.Ala1914del)
|
|
|
NM_000540.3(RYR1):c.573C>G (p.Asp191Glu)
|
|
|
NM_000540.3(RYR1):c.5748G>A (p.Gly1916=)
|
|
|
NM_000540.3(RYR1):c.5749G>T (p.Glu1917Ter)
|
rs781075511
|
|
NM_000540.3(RYR1):c.5754A>G (p.Lys1918=)
|
|
|
NM_000540.3(RYR1):c.5757A>G (p.Glu1919=)
|
|
|
NM_000540.3(RYR1):c.5764T>C (p.Leu1922=)
|
|
|
NM_000540.3(RYR1):c.5766G>A (p.Leu1922=)
|
|
|
NM_000540.3(RYR1):c.5775G>C (p.Gly1925=)
|
rs1969451533
|
|
NM_000540.3(RYR1):c.5781C>G (p.Leu1927=)
|
rs773796528
|
|
NM_000540.3(RYR1):c.5784G>A (p.Gln1928=)
|
|
|
NM_000540.3(RYR1):c.5799G>A (p.Glu1933=)
|
|
|
NM_000540.3(RYR1):c.5806A>C (p.Lys1936Gln)
|
|
|
NM_000540.3(RYR1):c.5807A>T (p.Lys1936Met)
|
rs2145559378
|
|
NM_000540.3(RYR1):c.5811A>G (p.Leu1937=)
|
|
|
NM_000540.3(RYR1):c.5812C>T (p.Gln1938Ter)
|
|
|
NM_000540.3(RYR1):c.5814+15C>T
|
|
|
NM_000540.3(RYR1):c.5814+19del
|
|
|
NM_000540.3(RYR1):c.5814+1G>A
|
rs1057519173
|
|
NM_000540.3(RYR1):c.5815-5C>T
|
|
|
NM_000540.3(RYR1):c.5815-6C>T
|
|
|
NM_000540.3(RYR1):c.5815-9C>A
|
rs2145561690
|
|
NM_000540.3(RYR1):c.5816T>A (p.Met1939Lys)
|
rs1568489098
|
|
NM_000540.3(RYR1):c.5817G>T (p.Met1939Ile)
|
|
|
NM_000540.3(RYR1):c.5820C>T (p.Cys1940=)
|
|
|
NM_000540.3(RYR1):c.5821C>T (p.His1941Tyr)
|
|
|
NM_000540.3(RYR1):c.5829G>A (p.Leu1943=)
|
|
|
NM_000540.3(RYR1):c.5833T>G (p.Tyr1945Asp)
|
rs1258307067
|
|
NM_000540.3(RYR1):c.5835T>C (p.Tyr1945=)
|
|
|
NM_000540.3(RYR1):c.5848G>C (p.Glu1950Gln)
|
|
|
NM_000540.3(RYR1):c.5849A>T (p.Glu1950Val)
|
|
|
NM_000540.3(RYR1):c.5850G>A (p.Glu1950=)
|
rs1969485017
|
|
NM_000540.3(RYR1):c.5852T>G (p.Leu1951Arg)
|
rs2145561863
|
|
NM_000540.3(RYR1):c.5861G>A (p.Arg1954His)
|
|
|
NM_000540.3(RYR1):c.5880C>A (p.Ala1960=)
|
|
|
NM_000540.3(RYR1):c.5889G>A (p.Glu1963=)
|
rs2145562055
|
|
NM_000540.3(RYR1):c.588G>A (p.Gln196=)
|
|
|
NM_000540.3(RYR1):c.5890C>T (p.Arg1964Cys)
|
rs145801146
|
|
NM_000540.3(RYR1):c.5891G>T (p.Arg1964Leu)
|
rs767487116
|
|
NM_000540.3(RYR1):c.5894A>C (p.Tyr1965Ser)
|
rs1969487142
|
|
NM_000540.3(RYR1):c.5895T>C (p.Tyr1965=)
|
|
|
NM_000540.3(RYR1):c.5907C>G (p.Leu1969=)
|
rs2145562143
|
|
NM_000540.3(RYR1):c.5907C>T (p.Leu1969=)
|
|
|
NM_000540.3(RYR1):c.5908C>T (p.Gln1970Ter)
|
|
|
NM_000540.3(RYR1):c.5910G>A (p.Gln1970=)
|
rs1555780327
|
|
NM_000540.3(RYR1):c.5910G>C (p.Gln1970His)
|
rs1555780327
|
|
NM_000540.3(RYR1):c.5915A>T (p.Asn1972Ile)
|
rs1377668924
|
|
NM_000540.3(RYR1):c.5917C>T (p.Gln1973Ter)
|
rs2145562180
|
|
NM_000540.3(RYR1):c.5922G>A (p.Arg1974=)
|
|
|
NM_000540.3(RYR1):c.5924G>C (p.Ser1975Thr)
|
rs1969488865
|
|
NM_000540.3(RYR1):c.5925C>A (p.Ser1975Arg)
|
|
|
NM_000540.3(RYR1):c.5925C>T (p.Ser1975=)
|
|
|
NM_000540.3(RYR1):c.5927G>A (p.Arg1976His)
|
rs771545581
|
|
NM_000540.3(RYR1):c.5931T>C (p.Tyr1977=)
|
|
|
NM_000540.3(RYR1):c.5938del (p.Leu1980fs)
|
rs193922786
|
|
NM_000540.3(RYR1):c.5954G>A (p.Ser1985Asn)
|
|
|
NM_000540.3(RYR1):c.5954G>C (p.Ser1985Thr)
|
rs1441012614
|
|
NM_000540.3(RYR1):c.5955C>T (p.Ser1985=)
|
|
|
NM_000540.3(RYR1):c.5976A>G (p.Ala1992=)
|
|
|
NM_000540.3(RYR1):c.5978G>A (p.Arg1993Lys)
|
|
|
NM_000540.3(RYR1):c.5980C>G (p.Arg1994Gly)
|
rs369167120
|
|
NM_000540.3(RYR1):c.5981G>C (p.Arg1994Pro)
|
|
|
NM_000540.3(RYR1):c.5985C>A (p.Thr1995=)
|
|
|
NM_000540.3(RYR1):c.5985C>T (p.Thr1995=)
|
rs2145562524
|
|
NM_000540.3(RYR1):c.5988C>T (p.Arg1996=)
|
rs193922787
|
|
NM_000540.3(RYR1):c.5989G>A (p.Glu1997Lys)
|
rs1366464512
|
|
NM_000540.3(RYR1):c.5994C>A (p.Phe1998Leu)
|
rs2145562591
|
|
NM_000540.3(RYR1):c.5995C>T (p.Arg1999Cys)
|
rs767508472
|
|
NM_000540.3(RYR1):c.5995del (p.Arg1999fs)
|
rs1600787461
|
|
NM_000540.3(RYR1):c.5996G>A (p.Arg1999His)
|
rs1600787474
|
|
NM_000540.3(RYR1):c.5G>C (p.Gly2Ala)
|
rs886054378
|
|
NM_000540.3(RYR1):c.6002C>G (p.Pro2001Arg)
|
rs760559322
|
|
NM_000540.3(RYR1):c.600C>T (p.Asn200=)
|
rs1290843862
|
|
NM_000540.3(RYR1):c.6015+10C>A
|
|
|
NM_000540.3(RYR1):c.6015+10C>T
|
|
|
NM_000540.3(RYR1):c.6015+11C>T
|
|
|
NM_000540.3(RYR1):c.6015+11_6015+17del
|
|
|
NM_000540.3(RYR1):c.6015+18G>A
|
|
|
NM_000540.3(RYR1):c.6015+18G>T
|
|
|
NM_000540.3(RYR1):c.6015+87C>T
|
rs17708009
|
|
NM_000540.3(RYR1):c.6016-10C>T
|
|
|
NM_000540.3(RYR1):c.6016-4dup
|
|
|
NM_000540.3(RYR1):c.6016-8T>A
|
|
|
NM_000540.3(RYR1):c.601A>G (p.Met201Val)
|
rs1972851843
|
|
NM_000540.3(RYR1):c.6021T>C (p.Asn2007=)
|
|
|
NM_000540.3(RYR1):c.6023T>A (p.Met2008Lys)
|
|
|
NM_000540.3(RYR1):c.6023T>C (p.Met2008Thr)
|
rs199947661
|
|
NM_000540.3(RYR1):c.6027A>G (p.Leu2009=)
|
rs2145564113
|
|
NM_000540.3(RYR1):c.6031C>T (p.Gln2011Ter)
|
rs1385985785
|
|
NM_000540.3(RYR1):c.6033A>G (p.Gln2011=)
|
|
|
NM_000540.3(RYR1):c.6037A>C (p.Lys2013Gln)
|
rs2145564171
|
|
NM_000540.3(RYR1):c.6051T>C (p.Asp2017=)
|
|
|
NM_000540.3(RYR1):c.6052G>C (p.Glu2018Gln)
|
rs879255343
|
|
NM_000540.3(RYR1):c.6058G>A (p.Asp2020Asn)
|
|
|
NM_000540.3(RYR1):c.6060C>T (p.Asp2020=)
|
rs2145564339
|
|
NM_000540.3(RYR1):c.6064C>T (p.Pro2022Ser)
|
|
|
NM_000540.3(RYR1):c.6069C>T (p.Leu2023=)
|
|
|
NM_000540.3(RYR1):c.6071C>T (p.Pro2024Leu)
|
rs2145564410
|
|
NM_000540.3(RYR1):c.6072T>C (p.Pro2024=)
|
|
|
NM_000540.3(RYR1):c.6082C>G (p.Arg2028Gly)
|
rs773540275
|
|
NM_000540.3(RYR1):c.6082C>T (p.Arg2028Ter)
|
rs773540275
|
|
NM_000540.3(RYR1):c.608C>G (p.Pro203Arg)
|
|
|
NM_000540.3(RYR1):c.609C>A (p.Pro203=)
|
|
|
NM_000540.3(RYR1):c.6104A>T (p.His2035Leu)
|
rs367543056
|
|
NM_000540.3(RYR1):c.6105T>C (p.His2035=)
|
rs1555780574
|
|
NM_000540.3(RYR1):c.6114G>C (p.Leu2038=)
|
rs373751867
|
|
NM_000540.3(RYR1):c.6114G>T (p.Leu2038=)
|
|
|
NM_000540.3(RYR1):c.6115C>T (p.Leu2039=)
|
|
|
NM_000540.3(RYR1):c.6126_6127del (p.Cys2042fs)
|
|
|
NM_000540.3(RYR1):c.6127+11G>T
|
|
|
NM_000540.3(RYR1):c.6127+17AG[2]
|
|
|
NM_000540.3(RYR1):c.6127+1G>A
|
rs1283302989
|
|
NM_000540.3(RYR1):c.6128-113del
|
rs60482983
|
|
NM_000540.3(RYR1):c.6128-113dup
|
rs60482983
|
|
NM_000540.3(RYR1):c.6128-114_6128-113dup
|
rs60482983
|
|
NM_000540.3(RYR1):c.6128-12G>C
|
|
|
NM_000540.3(RYR1):c.6128-13T>G
|
rs1969594703
|
|
NM_000540.3(RYR1):c.6128-18C>T
|
|
|
NM_000540.3(RYR1):c.6128-20G>A
|
|
|
NM_000540.3(RYR1):c.6128-5T>A
|
|
|
NM_000540.3(RYR1):c.6138A>G (p.Leu2046=)
|
rs551228795
|
|
NM_000540.3(RYR1):c.613T>C (p.Cys205Arg)
|
|
|
NM_000540.3(RYR1):c.6150G>A (p.Glu2050=)
|
rs727504131
|
|
NM_000540.3(RYR1):c.6153G>A (p.Glu2051=)
|
|
|
NM_000540.3(RYR1):c.6170C>T (p.Thr2057Ile)
|
rs1449491974
|
|
NM_000540.3(RYR1):c.6171C>A (p.Thr2057=)
|
rs1197775066
|
|
NM_000540.3(RYR1):c.6171C>T (p.Thr2057=)
|
|
|
NM_000540.3(RYR1):c.6174C>T (p.Thr2058=)
|
rs2145570452
|
|
NM_000540.3(RYR1):c.6185G>A (p.Arg2062His)
|
|
|
NM_000540.3(RYR1):c.6191T>G (p.Met2064Arg)
|
rs200388510
|
|
NM_000540.3(RYR1):c.6192G>A (p.Met2064Ile)
|
rs372066850
|
|
NM_000540.3(RYR1):c.6192G>C (p.Met2064Ile)
|
|
|
NM_000540.3(RYR1):c.6194G>A (p.Ser2065Asn)
|
|
|
NM_000540.3(RYR1):c.6196C>T (p.Leu2066=)
|
|
|
NM_000540.3(RYR1):c.6199T>C (p.Leu2067=)
|
|
|
NM_000540.3(RYR1):c.6203A>G (p.Glu2068Gly)
|
|
|
NM_000540.3(RYR1):c.6204G>T (p.Glu2068Asp)
|
rs2145570603
|
|
NM_000540.3(RYR1):c.6209T>A (p.Val2070Glu)
|
|
|
NM_000540.3(RYR1):c.6210G>C (p.Val2070=)
|
|
|
NM_000540.3(RYR1):c.6214C>G (p.Leu2072Val)
|
|
|
NM_000540.3(RYR1):c.6220AAG[2] (p.Lys2076del)
|
|
|
NM_000540.3(RYR1):c.6229_6232del (p.Glu2077fs)
|
|
|
NM_000540.3(RYR1):c.6232G>T (p.Glu2078Ter)
|
rs1131691626
|
|
NM_000540.3(RYR1):c.6248A>G (p.Glu2083Gly)
|
|
|
NM_000540.3(RYR1):c.6254C>T (p.Ser2085Leu)
|
|
|
NM_000540.3(RYR1):c.6259GAG[1] (p.Glu2088del)
|
rs1969604379
|
|
NM_000540.3(RYR1):c.6261G>A (p.Glu2087=)
|
rs376623643
|
|
NM_000540.3(RYR1):c.6261G>C (p.Glu2087Asp)
|
|
|
NM_000540.3(RYR1):c.6262G>A (p.Glu2088Lys)
|
rs587784378
|
|
NM_000540.3(RYR1):c.6264G>A (p.Glu2088=)
|
|
|
NM_000540.3(RYR1):c.6267C>G (p.Ser2089Arg)
|
rs768618241
|
|
NM_000540.3(RYR1):c.6270A>G (p.Lys2090=)
|
|
|
NM_000540.3(RYR1):c.6271C>A (p.Pro2091Thr)
|
rs1600794989
|
|
NM_000540.3(RYR1):c.6271C>T (p.Pro2091Ser)
|
|
|
NM_000540.3(RYR1):c.6272C>A (p.Pro2091His)
|
rs1555781055
|
|
NM_000540.3(RYR1):c.6274+13del
|
|
|
NM_000540.3(RYR1):c.6274+4A>C
|
|
|
NM_000540.3(RYR1):c.6274+55C>T
|
rs11665970
|
|
NM_000540.3(RYR1):c.6274+5G>A
|
|
|
NM_000540.3(RYR1):c.6274+6G>C
|
|
|
NM_000540.3(RYR1):c.6275-11C>G
|
|
|
NM_000540.3(RYR1):c.6275-13G>T
|
|
|
NM_000540.3(RYR1):c.6275-16A>G
|
|
|
NM_000540.3(RYR1):c.6275-19T>G
|
|
|
NM_000540.3(RYR1):c.6279C>A (p.Ser2093=)
|
|
|
NM_000540.3(RYR1):c.6279C>T (p.Ser2093=)
|
|
|
NM_000540.3(RYR1):c.6284A>C (p.Gln2095Pro)
|
rs1369035565
|
|
NM_000540.3(RYR1):c.6295_6351dup (p.Ser2099_Val2117dup)
|
rs1555781547
|
|
NM_000540.3(RYR1):c.6297C>T (p.Ser2099=)
|
|
|
NM_000540.3(RYR1):c.6304G>C (p.Val2102Leu)
|
rs770593660
|
|
NM_000540.3(RYR1):c.6304G>T (p.Val2102Leu)
|
rs770593660
|
|
NM_000540.3(RYR1):c.631+11C>G
|
rs1568436639
|
|
NM_000540.3(RYR1):c.631+18C>T
|
|
|
NM_000540.3(RYR1):c.631+20C>A
|
|
|
NM_000540.3(RYR1):c.631+39dup
|
rs35018208
|
|
NM_000540.3(RYR1):c.631+7G>A
|
|
|
NM_000540.3(RYR1):c.6317C>T (p.Ala2106Val)
|
rs1555781571
|
|
NM_000540.3(RYR1):c.632-10del
|
|
|
NM_000540.3(RYR1):c.632-11C>T
|
rs886038337
|
|
NM_000540.3(RYR1):c.6321A>G (p.Gln2107=)
|
|
|
NM_000540.3(RYR1):c.6327C>T (p.Asp2109=)
|
|
|
NM_000540.3(RYR1):c.6331G>A (p.Val2111Met)
|
|
|
NM_000540.3(RYR1):c.6340C>A (p.Pro2114Thr)
|
|
|
NM_000540.3(RYR1):c.6342C>G (p.Pro2114=)
|
|
|
NM_000540.3(RYR1):c.6342C>T (p.Pro2114=)
|
|
|
NM_000540.3(RYR1):c.6346C>T (p.Leu2116=)
|
|
|
NM_000540.3(RYR1):c.6348G>A (p.Leu2116=)
|
|
|
NM_000540.3(RYR1):c.6349G>C (p.Val2117Leu)
|
rs193922788
|
|
NM_000540.3(RYR1):c.6350T>C (p.Val2117Ala)
|
|
|
NM_000540.3(RYR1):c.6353G>A (p.Arg2118Gln)
|
|
|
NM_000540.3(RYR1):c.6353G>C (p.Arg2118Pro)
|
rs201649680
|
|
NM_000540.3(RYR1):c.6355G>A (p.Ala2119Thr)
|
|
|
NM_000540.3(RYR1):c.6357C>T (p.Ala2119=)
|
|
|
NM_000540.3(RYR1):c.6360G>C (p.Met2120Ile)
|
|
|
NM_000540.3(RYR1):c.6370C>T (p.Leu2124=)
|
|
|
NM_000540.3(RYR1):c.6373C>T (p.His2125Tyr)
|
rs1600801415
|
|
NM_000540.3(RYR1):c.6376C>T (p.Arg2126Trp)
|
rs1265086155
|
|
NM_000540.3(RYR1):c.6380A>G (p.Gln2127Arg)
|
|
|
NM_000540.3(RYR1):c.6387C>G (p.Asp2129Glu)
|
rs117886618
|
|
NM_000540.3(RYR1):c.6391C>T (p.Leu2131=)
|
|
|
NM_000540.3(RYR1):c.6396T>A (p.Gly2132=)
|
rs181419618
|
|
NM_000540.3(RYR1):c.6396T>G (p.Gly2132=)
|
rs181419618
|
|
NM_000540.3(RYR1):c.639G>A (p.Val213=)
|
|
|
NM_000540.3(RYR1):c.63G>C (p.Leu21=)
|
|
|
NM_000540.3(RYR1):c.6406C>T (p.Arg2136Cys)
|
rs886043937
|
|
NM_000540.3(RYR1):c.6408T>C (p.Arg2136=)
|
|
|
NM_000540.3(RYR1):c.640A>G (p.Thr214Ala)
|
rs769650157
|
|
NM_000540.3(RYR1):c.6416C>A (p.Pro2139Gln)
|
|
|
NM_000540.3(RYR1):c.6419G>A (p.Arg2140Gln)
|
|
|
NM_000540.3(RYR1):c.6421G>T (p.Ala2141Ser)
|
rs1064796405
|
|
NM_000540.3(RYR1):c.6423G>A (p.Ala2141=)
|
|
|
NM_000540.3(RYR1):c.6426C>T (p.Tyr2142=)
|
|
|
NM_000540.3(RYR1):c.6427A>G (p.Thr2143Ala)
|
rs2145578069
|
|
NM_000540.3(RYR1):c.642G>A (p.Thr214=)
|
|
|
NM_000540.3(RYR1):c.6434C>T (p.Ser2145Leu)
|
|
|
NM_000540.3(RYR1):c.6437C>T (p.Pro2146Leu)
|
|
|
NM_000540.3(RYR1):c.643G>A (p.Gly215Arg)
|
rs1393197844
|
|
NM_000540.3(RYR1):c.644G>A (p.Gly215Glu)
|
rs118192115
|
|
NM_000540.3(RYR1):c.6451G>A (p.Asp2151Asn)
|
rs1555781651
|
|
NM_000540.3(RYR1):c.6465G>C (p.Leu2155=)
|
|
|
NM_000540.3(RYR1):c.6468C>T (p.Leu2156=)
|
|
|
NM_000540.3(RYR1):c.6469del (p.Glu2157fs)
|
|
|
NM_000540.3(RYR1):c.6474C>T (p.Cys2158=)
|
|
|
NM_000540.3(RYR1):c.6475C>A (p.Leu2159Ile)
|
rs1568493915
|
|
NM_000540.3(RYR1):c.6477C>G (p.Leu2159=)
|
rs1159279103
|
|
NM_000540.3(RYR1):c.6478G>C (p.Gly2160Arg)
|
rs143398211
|
|
NM_000540.3(RYR1):c.6479G>T (p.Gly2160Val)
|
rs1969716005
|
|
NM_000540.3(RYR1):c.6480C>G (p.Gly2160=)
|
rs2145578379
|
|
NM_000540.3(RYR1):c.6487C>G (p.Arg2163Gly)
|
|
|
NM_000540.3(RYR1):c.6488G>A (p.Arg2163His)
|
rs118192163
|
|
NM_000540.3(RYR1):c.6488G>C (p.Arg2163Pro)
|
rs118192163
|
|
NM_000540.3(RYR1):c.6488G>T (p.Arg2163Leu)
|
rs118192163
|
|
NM_000540.3(RYR1):c.6489C>A (p.Arg2163=)
|
|
|
NM_000540.3(RYR1):c.6489C>T (p.Arg2163=)
|
|
|
NM_000540.3(RYR1):c.6491C>T (p.Ser2164Leu)
|
rs1473972613
|
|
NM_000540.3(RYR1):c.6497_6520del (p.Leu2166_Glu2174delinsGln)
|
|
|
NM_000540.3(RYR1):c.6500T>G (p.Ile2167Ser)
|
|
|
NM_000540.3(RYR1):c.6502G>A (p.Val2168Met)
|
rs118192176
|
|
NM_000540.3(RYR1):c.6502G>C (p.Val2168Leu)
|
|
|
NM_000540.3(RYR1):c.6503T>C (p.Val2168Ala)
|
rs2145578596
|
|
NM_000540.3(RYR1):c.6508A>C (p.Met2170Leu)
|
|
|
NM_000540.3(RYR1):c.6513C>T (p.Gly2171=)
|
rs2145578655
|
|
NM_000540.3(RYR1):c.6514C>T (p.Pro2172Ser)
|
|
|
NM_000540.3(RYR1):c.6515C>T (p.Pro2172Leu)
|
|
|
NM_000540.3(RYR1):c.6517C>T (p.Gln2173Ter)
|
rs1486865637
|
|
NM_000540.3(RYR1):c.6520GAG[1] (p.Glu2175del)
|
|
|
NM_000540.3(RYR1):c.6521A>C (p.Glu2174Ala)
|
rs746226400
|
|
NM_000540.3(RYR1):c.6521A>T (p.Glu2174Val)
|
|
|
NM_000540.3(RYR1):c.6522G>A (p.Glu2174=)
|
|
|
NM_000540.3(RYR1):c.6529C>T (p.Leu2177Phe)
|
|
|
NM_000540.3(RYR1):c.6531C>A (p.Leu2177=)
|
|
|
NM_000540.3(RYR1):c.6531C>G (p.Leu2177=)
|
|
|
NM_000540.3(RYR1):c.6531C>T (p.Leu2177=)
|
|
|
NM_000540.3(RYR1):c.6533T>A (p.Met2178Lys)
|
rs1568494072
|
|
NM_000540.3(RYR1):c.6544A>T (p.Ile2182Phe)
|
rs193922790
|
|
NM_000540.3(RYR1):c.6546C>T (p.Ile2182=)
|
rs768963605
|
|
NM_000540.3(RYR1):c.6548+17C>T
|
|
|
NM_000540.3(RYR1):c.6548+18C>T
|
|
|
NM_000540.3(RYR1):c.6548+19C>G
|
|
|
NM_000540.3(RYR1):c.6548+227_6548+228insT
|
rs780267024
|
|
NM_000540.3(RYR1):c.6548+242_6548+243del
|
rs1226486711
|
|
NM_000540.3(RYR1):c.6548+243del
|
rs1226486711
|
|
NM_000540.3(RYR1):c.6548+243dup
|
rs1226486711
|
|
NM_000540.3(RYR1):c.6548+3G>T
|
rs2145578882
|
|
NM_000540.3(RYR1):c.6548+7C>T
|
|
|
NM_000540.3(RYR1):c.6548G>A (p.Gly2183Glu)
|
rs959170123
|
|
NM_000540.3(RYR1):c.6548G>C (p.Gly2183Ala)
|
rs959170123
|
|
NM_000540.3(RYR1):c.6549-11C>T
|
|
|
NM_000540.3(RYR1):c.6549-16C>T
|
|
|
NM_000540.3(RYR1):c.6549-1_6553dup
|
rs1600807622
|
|
NM_000540.3(RYR1):c.6549-20C>T
|
|
|
NM_000540.3(RYR1):c.6549-5C>T
|
|
|
NM_000540.3(RYR1):c.654C>T (p.Val218=)
|
rs768361459
|
|
NM_000540.3(RYR1):c.6561C>T (p.Asn2187=)
|
rs780599614
|
|
NM_000540.3(RYR1):c.6566_6567del (p.Lys2189fs)
|
rs1064794845
|
|
NM_000540.3(RYR1):c.6567A>C (p.Lys2189Asn)
|
|
|
NM_000540.3(RYR1):c.6576C>T (p.Tyr2192=)
|
rs1600807753
|
|
NM_000540.3(RYR1):c.6577C>T (p.Gln2193Ter)
|
|
|
NM_000540.3(RYR1):c.6580C>A (p.His2194Asn)
|
rs2145585380
|
|
NM_000540.3(RYR1):c.6582C>T (p.His2194=)
|
|
|
NM_000540.3(RYR1):c.6585G>C (p.Pro2195=)
|
|
|
NM_000540.3(RYR1):c.6588C>A (p.Asn2196Lys)
|
|
|
NM_000540.3(RYR1):c.6591G>C (p.Leu2197=)
|
|
|
NM_000540.3(RYR1):c.6599C>G (p.Ala2200Gly)
|
rs193922791
|
|
NM_000540.3(RYR1):c.659G>A (p.Arg220His)
|
|
|
NM_000540.3(RYR1):c.6601C>T (p.Leu2201=)
|
|
|
NM_000540.3(RYR1):c.6603G>A (p.Leu2201=)
|
|
|
NM_000540.3(RYR1):c.6608T>C (p.Met2203Thr)
|
|
|
NM_000540.3(RYR1):c.6610C>T (p.His2204Tyr)
|
rs745432757
|
|
NM_000540.3(RYR1):c.6611A>G (p.His2204Arg)
|
rs1969819699
|
|
NM_000540.3(RYR1):c.6612C>G (p.His2204Gln)
|
rs141646642
|
|
NM_000540.3(RYR1):c.6615G>A (p.Glu2205=)
|
rs181195904
|
|
NM_000540.3(RYR1):c.6615G>C (p.Glu2205Asp)
|
|
|
NM_000540.3(RYR1):c.6617C>G (p.Thr2206Arg)
|
rs118192177
|
|
NM_000540.3(RYR1):c.6618G>A (p.Thr2206=)
|
|
|
NM_000540.3(RYR1):c.6619del (p.Val2207fs)
|
rs2145585588
|
|
NM_000540.3(RYR1):c.6627G>A (p.Glu2209=)
|
rs754384994
|
|
NM_000540.3(RYR1):c.6628G>C (p.Val2210Leu)
|
rs193922792
|
|
NM_000540.3(RYR1):c.6628G>T (p.Val2210Phe)
|
rs193922792
|
|
NM_000540.3(RYR1):c.6629T>A (p.Val2210Asp)
|
rs1555782178
|
|
NM_000540.3(RYR1):c.6631A>C (p.Met2211Leu)
|
rs1131691876
|
|
NM_000540.3(RYR1):c.6635T>A (p.Val2212Asp)
|
rs193922793
|
|
NM_000540.3(RYR1):c.6635T>C (p.Val2212Ala)
|
rs193922793
|
|
NM_000540.3(RYR1):c.663C>G (p.Leu221=)
|
|
|
NM_000540.3(RYR1):c.663C>T (p.Leu221=)
|
rs761319979
|
|
NM_000540.3(RYR1):c.6642C>T (p.Val2214=)
|
|
|
NM_000540.3(RYR1):c.6663+17G>A
|
|
|
NM_000540.3(RYR1):c.6663+17G>C
|
|
|
NM_000540.3(RYR1):c.6663+17G>T
|
rs1030250376
|
|
NM_000540.3(RYR1):c.6663+1G>A
|
|
|
NM_000540.3(RYR1):c.6663+2T>C
|
|
|
NM_000540.3(RYR1):c.6663+6G>A
|
|
|
NM_000540.3(RYR1):c.6663+8C>A
|
|
|
NM_000540.3(RYR1):c.6663+9C>T
|
|
|
NM_000540.3(RYR1):c.6664-10C>G
|
|
|
NM_000540.3(RYR1):c.6664-13C>G
|
rs2145586046
|
|
NM_000540.3(RYR1):c.6664-14C>T
|
|
|
NM_000540.3(RYR1):c.6664-19A>G
|
rs2145586022
|
|
NM_000540.3(RYR1):c.6664-20G>A
|
|
|
NM_000540.3(RYR1):c.6664-4C>T
|
|
|
NM_000540.3(RYR1):c.6664-5C>G
|
rs867630021
|
|
NM_000540.3(RYR1):c.6664-8T>A
|
|
|
NM_000540.3(RYR1):c.6664-8T>C
|
rs1376871588
|
|
NM_000540.3(RYR1):c.6664-9C>A
|
|
|
NM_000540.3(RYR1):c.6666G>A (p.Glu2222=)
|
|
|
NM_000540.3(RYR1):c.6675C>G (p.Phe2225Leu)
|
|
|
NM_000540.3(RYR1):c.6688A>T (p.Thr2230Ser)
|
rs200630616
|
|
NM_000540.3(RYR1):c.6693C>T (p.Ser2231=)
|
|
|
NM_000540.3(RYR1):c.6695G>A (p.Cys2232Tyr)
|
|
|
NM_000540.3(RYR1):c.6699C>T (p.Cys2233=)
|
|
|
NM_000540.3(RYR1):c.66G>A (p.Gln22=)
|
|
|
NM_000540.3(RYR1):c.6701G>A (p.Arg2234His)
|
|
|
NM_000540.3(RYR1):c.6707T>G (p.Leu2236Arg)
|
rs1969830618
|
|
NM_000540.3(RYR1):c.6708C>G (p.Leu2236=)
|
|
|
NM_000540.3(RYR1):c.6710G>A (p.Cys2237Tyr)
|
rs2145586397
|
|
NM_000540.3(RYR1):c.6715T>C (p.Phe2239Leu)
|
|
|
NM_000540.3(RYR1):c.6716T>G (p.Phe2239Cys)
|
|
|
NM_000540.3(RYR1):c.6717C>T (p.Phe2239=)
|
|
|
NM_000540.3(RYR1):c.6719G>T (p.Cys2240Phe)
|
rs2145586442
|
|
NM_000540.3(RYR1):c.6721C>G (p.Arg2241Gly)
|
|
|
NM_000540.3(RYR1):c.6723A>G (p.Arg2241=)
|
|
|
NM_000540.3(RYR1):c.6726C>G (p.Ile2242Met)
|
rs771658147
|
|
NM_000540.3(RYR1):c.6730C>A (p.Arg2244=)
|
|
|
NM_000540.3(RYR1):c.6731G>A (p.Arg2244Gln)
|
|
|
NM_000540.3(RYR1):c.6738C>T (p.Asn2246=)
|
|
|
NM_000540.3(RYR1):c.6744C>T (p.Arg2248=)
|
|
|
NM_000540.3(RYR1):c.6752T>C (p.Phe2251Ser)
|
rs1600809003
|
|
NM_000540.3(RYR1):c.6753T>C (p.Phe2251=)
|
|
|
NM_000540.3(RYR1):c.6757C>T (p.His2253Tyr)
|
rs917523269
|
|
NM_000540.3(RYR1):c.6759C>T (p.His2253=)
|
|
|
NM_000540.3(RYR1):c.6761T>C (p.Leu2254Pro)
|
rs948875754
|
|
NM_000540.3(RYR1):c.6762G>A (p.Leu2254=)
|
rs764455879
|
|
NM_000540.3(RYR1):c.6765C>T (p.Ser2255=)
|
|
|
NM_000540.3(RYR1):c.6771G>A (p.Leu2257=)
|
|
|
NM_000540.3(RYR1):c.6772C>T (p.Leu2258=)
|
|
|
NM_000540.3(RYR1):c.6774G>A (p.Leu2258=)
|
|
|
NM_000540.3(RYR1):c.677T>A (p.Met226Lys)
|
rs112596687
|
|
NM_000540.3(RYR1):c.677T>C (p.Met226Thr)
|
rs112596687
|
|
NM_000540.3(RYR1):c.6781A>G (p.Ser2261Gly)
|
|
|
NM_000540.3(RYR1):c.6789C>A (p.Ile2263=)
|
rs112051106
|
|
NM_000540.3(RYR1):c.6796+15G>A
|
|
|
NM_000540.3(RYR1):c.6796+15G>T
|
|
|
NM_000540.3(RYR1):c.6796+16C>A
|
|
|
NM_000540.3(RYR1):c.6796+17C>A
|
|
|
NM_000540.3(RYR1):c.6796+18C>T
|
|
|
NM_000540.3(RYR1):c.6796+1G>A
|
rs2145586850
|
|
NM_000540.3(RYR1):c.6796+8C>G
|
|
|
NM_000540.3(RYR1):c.6796+9C>T
|
|
|
NM_000540.3(RYR1):c.6796G>T (p.Gly2266Cys)
|
rs772803714
|
|
NM_000540.3(RYR1):c.6797-10_6797-9insT
|
rs1555782381
|
|
NM_000540.3(RYR1):c.6797-11C>T
|
|
|
NM_000540.3(RYR1):c.6797-13C>G
|
|
|
NM_000540.3(RYR1):c.6797-14T>C
|
|
|
NM_000540.3(RYR1):c.6797-18C>T
|
|
|
NM_000540.3(RYR1):c.6797-19C>T
|
|
|
NM_000540.3(RYR1):c.6797-20C>T
|
|
|
NM_000540.3(RYR1):c.6797-3C>T
|
rs766633897
|
|
NM_000540.3(RYR1):c.6797-3dup
|
|
|
NM_000540.3(RYR1):c.6797-4G>C
|
|
|
NM_000540.3(RYR1):c.6797-6_6798del
|
|
|
NM_000540.3(RYR1):c.6797-9C>G
|
|
|
NM_000540.3(RYR1):c.6798C>A (p.Gly2266=)
|
|
|
NM_000540.3(RYR1):c.6799A>G (p.Met2267Val)
|
rs886054393
|
|
NM_000540.3(RYR1):c.6805G>C (p.Gly2269Arg)
|
rs765088913
|
|
NM_000540.3(RYR1):c.6806dup (p.Ser2270fs)
|
rs886041380
|
|
NM_000540.3(RYR1):c.6807C>T (p.Gly2269=)
|
rs1312114532
|
|
NM_000540.3(RYR1):c.680A>T (p.Asp227Val)
|
rs193922760
|
|
NM_000540.3(RYR1):c.6811_6836del (p.Thr2271fs)
|
|
|
NM_000540.3(RYR1):c.6814C>A (p.Pro2272Thr)
|
rs777460436
|
|
NM_000540.3(RYR1):c.6814C>T (p.Pro2272Ser)
|
rs777460436
|
|
NM_000540.3(RYR1):c.6821A>G (p.Asp2274Gly)
|
rs1064796493
|
|
NM_000540.3(RYR1):c.6822C>T (p.Asp2274=)
|
|
|
NM_000540.3(RYR1):c.682G>A (p.Glu228Lys)
|
rs2145351033
|
|
NM_000540.3(RYR1):c.6837C>A (p.Ser2279=)
|
|
|
NM_000540.3(RYR1):c.6845A>C (p.Asp2282Ala)
|
rs2145588729
|
|
NM_000540.3(RYR1):c.6847A>C (p.Asn2283His)
|
rs118192121
|
|
NM_000540.3(RYR1):c.684G>A (p.Glu228=)
|
rs2145351061
|
|
NM_000540.3(RYR1):c.6850A>G (p.Asn2284Asp)
|
|
|
NM_000540.3(RYR1):c.6851A>G (p.Asn2284Ser)
|
rs779515779
|
|
NM_000540.3(RYR1):c.6851A>T (p.Asn2284Ile)
|
|
|
NM_000540.3(RYR1):c.6856C>G (p.Leu2286Val)
|
|
|
NM_000540.3(RYR1):c.685T>C (p.Cys229Arg)
|
rs1600649879
|
|
NM_000540.3(RYR1):c.6861C>A (p.Ala2287=)
|
rs771134555
|
|
NM_000540.3(RYR1):c.6866C>T (p.Ala2289Val)
|
|
|
NM_000540.3(RYR1):c.686G>A (p.Cys229Tyr)
|
rs765606076
|
|
NM_000540.3(RYR1):c.6873G>A (p.Gln2291=)
|
|
|
NM_000540.3(RYR1):c.6876G>A (p.Glu2292=)
|
|
|
NM_000540.3(RYR1):c.6880G>A (p.Asp2294Asn)
|
|
|
NM_000540.3(RYR1):c.6882C>T (p.Asp2294=)
|
rs1442998187
|
|
NM_000540.3(RYR1):c.6884T>C (p.Leu2295Pro)
|
rs1555782434
|
|
NM_000540.3(RYR1):c.6891+11C>G
|
|
|
NM_000540.3(RYR1):c.6891+11_6891+12insT
|
|
|
NM_000540.3(RYR1):c.6891+12_6891+21del
|
rs2145589047
|
|
NM_000540.3(RYR1):c.6891+14G>A
|
|
|
NM_000540.3(RYR1):c.6891+19G>A
|
|
|
NM_000540.3(RYR1):c.6891+221_6891+252del
|
rs376134759
|
|
NM_000540.3(RYR1):c.6891+251G>C
|
rs116989106
|
|
NM_000540.3(RYR1):c.6891+2T>C
|
|
|
NM_000540.3(RYR1):c.6891+9G>A
|
|
|
NM_000540.3(RYR1):c.6892-10C>A
|
rs961683924
|
|
NM_000540.3(RYR1):c.6892-11del
|
|
|
NM_000540.3(RYR1):c.6892-14C>T
|
rs886038338
|
|
NM_000540.3(RYR1):c.6892-19G>A
|
|
|
NM_000540.3(RYR1):c.6892-20_6892-19del
|
rs2145597603
|
|
NM_000540.3(RYR1):c.6892-4C>A
|
|
|
NM_000540.3(RYR1):c.6892-5C>T
|
|
|
NM_000540.3(RYR1):c.6892-7C>T
|
|
|
NM_000540.3(RYR1):c.6892-89GCAGG[3]
|
rs3842417
|
|
NM_000540.3(RYR1):c.6892G>A (p.Val2298Ile)
|
rs761654671
|
|
NM_000540.3(RYR1):c.6897G>C (p.Val2299=)
|
rs767454302
|
|
NM_000540.3(RYR1):c.6904C>T (p.Leu2302=)
|
rs886042146
|
|
NM_000540.3(RYR1):c.6906G>C (p.Leu2302=)
|
|
|
NM_000540.3(RYR1):c.6912C>G (p.Gly2304=)
|
|
|
NM_000540.3(RYR1):c.6921C>G (p.Leu2307=)
|
|
|
NM_000540.3(RYR1):c.6926G>A (p.Ser2309Asn)
|
rs2145597847
|
|
NM_000540.3(RYR1):c.6933dup (p.Met2312fs)
|
rs1969980104
|
|
NM_000540.3(RYR1):c.6938T>G (p.Leu2313Arg)
|
|
|
NM_000540.3(RYR1):c.693C>A (p.Thr231=)
|
|
|
NM_000540.3(RYR1):c.693C>G (p.Thr231=)
|
|
|
NM_000540.3(RYR1):c.6942G>A (p.Val2314=)
|
rs1600817998
|
|
NM_000540.3(RYR1):c.6948dup (p.Gly2317fs)
|
|
|
NM_000540.3(RYR1):c.6951G>A (p.Gly2317=)
|
|
|
NM_000540.3(RYR1):c.6951G>T (p.Gly2317=)
|
|
|
NM_000540.3(RYR1):c.6952T>C (p.Tyr2318His)
|
|
|
NM_000540.3(RYR1):c.6961A>T (p.Ile2321Phe)
|
rs34390345
|
|
NM_000540.3(RYR1):c.6975C>T (p.Pro2325=)
|
|
|
NM_000540.3(RYR1):c.6982G>A (p.Gly2328Arg)
|
rs1969982762
|
|
NM_000540.3(RYR1):c.6988C>T (p.Arg2330Cys)
|
|
|
NM_000540.3(RYR1):c.6989G>A (p.Arg2330His)
|
|
|
NM_000540.3(RYR1):c.6993C>T (p.Tyr2331=)
|
|
|
NM_000540.3(RYR1):c.6995T>G (p.Leu2332Arg)
|
|
|
NM_000540.3(RYR1):c.7002C>T (p.Phe2334=)
|
|
|
NM_000540.3(RYR1):c.7006C>G (p.Arg2336Gly)
|
|
|
NM_000540.3(RYR1):c.7006C>T (p.Arg2336Cys)
|
rs1218605372
|
|
NM_000540.3(RYR1):c.7007G>T (p.Arg2336Leu)
|
|
|
NM_000540.3(RYR1):c.7013C>T (p.Ala2338Val)
|
rs2145598247
|
|
NM_000540.3(RYR1):c.7015G>T (p.Val2339Phe)
|
rs1568500238
|
|
NM_000540.3(RYR1):c.7017C>T (p.Val2339=)
|
|
|
NM_000540.3(RYR1):c.7018T>A (p.Phe2340Ile)
|
rs1969983957
|
|
NM_000540.3(RYR1):c.7018T>C (p.Phe2340Leu)
|
rs1969983957
|
|
NM_000540.3(RYR1):c.7027+10G>T
|
rs2145598387
|
|
NM_000540.3(RYR1):c.7027+12G>T
|
|
|
NM_000540.3(RYR1):c.7027+15G>C
|
|
|
NM_000540.3(RYR1):c.7027+16C>T
|
|
|
NM_000540.3(RYR1):c.7027+18G>A
|
|
|
NM_000540.3(RYR1):c.7027+20_7027+34del
|
|
|
NM_000540.3(RYR1):c.7027+21del
|
|
|
NM_000540.3(RYR1):c.7027+5G>A
|
|
|
NM_000540.3(RYR1):c.7027+8G>A
|
|
|
NM_000540.3(RYR1):c.7027+8G>C
|
|
|
NM_000540.3(RYR1):c.7027G>C (p.Gly2343Arg)
|
|
|
NM_000540.3(RYR1):c.7028-11C>G
|
rs369342449
|
|
NM_000540.3(RYR1):c.7028-12G>C
|
|
|
NM_000540.3(RYR1):c.7028-13T>C
|
rs773283518
|
|
NM_000540.3(RYR1):c.7028-190_7028-146del
|
rs3833267
|
|
NM_000540.3(RYR1):c.7028-22dup
|
rs535617589
|
|
NM_000540.3(RYR1):c.7028-5G>A
|
|
|
NM_000540.3(RYR1):c.7029C>A (p.Gly2343=)
|
rs138617219
|
|
NM_000540.3(RYR1):c.7030G>A (p.Glu2344Lys)
|
rs1970007265
|
|
NM_000540.3(RYR1):c.7032G>C (p.Glu2344Asp)
|
rs193922798
|
|
NM_000540.3(RYR1):c.7034G>C (p.Ser2345Thr)
|
|
|
NM_000540.3(RYR1):c.7035C>A (p.Ser2345Arg)
|
rs1448949048
|
|
NM_000540.3(RYR1):c.7035C>G (p.Ser2345Arg)
|
rs1448949048
|
|
NM_000540.3(RYR1):c.7035C>T (p.Ser2345=)
|
|
|
NM_000540.3(RYR1):c.7039GAG[1] (p.Glu2348del)
|
rs121918596
|
|
NM_000540.3(RYR1):c.7042G>A (p.Glu2348Lys)
|
rs1568500778
|
|
NM_000540.3(RYR1):c.7047C>T (p.Asn2349=)
|
|
|
NM_000540.3(RYR1):c.7048G>A (p.Ala2350Thr)
|
rs193922802
|
|
NM_000540.3(RYR1):c.7051A>C (p.Asn2351His)
|
|
|
NM_000540.3(RYR1):c.7052A>G (p.Asn2351Ser)
|
|
|
NM_000540.3(RYR1):c.7053T>C (p.Asn2351=)
|
rs748167551
|
|
NM_000540.3(RYR1):c.7054G>T (p.Val2352Leu)
|
rs1555783257
|
|
NM_000540.3(RYR1):c.7056G>A (p.Val2352=)
|
|
|
NM_000540.3(RYR1):c.7060G>A (p.Val2354Met)
|
rs746971794
|
|
NM_000540.3(RYR1):c.7073T>A (p.Ile2358Asn)
|
rs1600820232
|
|
NM_000540.3(RYR1):c.7082C>G (p.Pro2361Arg)
|
rs1308388953
|
|
NM_000540.3(RYR1):c.7084G>A (p.Glu2362Lys)
|
rs762401851
|
|
NM_000540.3(RYR1):c.7085A>G (p.Glu2362Gly)
|
rs193922804
|
|
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.7097C>G (p.Pro2366Arg)
|
rs193922806
|
|
NM_000540.3(RYR1):c.7098C>A (p.Pro2366=)
|
rs2229147
|
|
NM_000540.3(RYR1):c.70del (p.Ser24fs)
|
|
|
NM_000540.3(RYR1):c.7102C>T (p.Leu2368=)
|
rs139498212
|
|
NM_000540.3(RYR1):c.7105C>A (p.Arg2369=)
|
|
|
NM_000540.3(RYR1):c.7105C>T (p.Arg2369Trp)
|
rs758509249
|
|
NM_000540.3(RYR1):c.7106G>A (p.Arg2369Gln)
|
rs777966555
|
|
NM_000540.3(RYR1):c.7107G>A (p.Arg2369=)
|
rs2145600619
|
|
NM_000540.3(RYR1):c.7108G>A (p.Gly2370Ser)
|
|
|
NM_000540.3(RYR1):c.7110T>A (p.Gly2370=)
|
|
|
NM_000540.3(RYR1):c.7111G>A (p.Glu2371Lys)
|
rs1057518940
|
|
NM_000540.3(RYR1):c.7112A>G (p.Glu2371Gly)
|
rs2145600668
|
|
NM_000540.3(RYR1):c.7114G>C (p.Gly2372Arg)
|
rs1600820601
|
|
NM_000540.3(RYR1):c.7115G>C (p.Gly2372Ala)
|
rs747106052
|
|
NM_000540.3(RYR1):c.7123G>A (p.Gly2375Arg)
|
rs1568501059
|
|
NM_000540.3(RYR1):c.7123G>C (p.Gly2375Arg)
|
rs1568501059
|
|
NM_000540.3(RYR1):c.7124G>A (p.Gly2375Glu)
|
rs193922807
|
|
NM_000540.3(RYR1):c.7124G>C (p.Gly2375Ala)
|
rs193922807
|
|
NM_000540.3(RYR1):c.7125G>A (p.Gly2375=)
|
|
|
NM_000540.3(RYR1):c.7130T>C (p.Leu2377Pro)
|
rs1600820682
|
|
NM_000540.3(RYR1):c.7131G>A (p.Leu2377=)
|
|
|
NM_000540.3(RYR1):c.7136C>A (p.Ala2379Asp)
|
rs886054394
|
|
NM_000540.3(RYR1):c.7140C>G (p.Ile2380Met)
|
rs573431795
|
|
NM_000540.3(RYR1):c.7140C>T (p.Ile2380=)
|
rs573431795
|
|
NM_000540.3(RYR1):c.7144del (p.Glu2382fs)
|
|
|
NM_000540.3(RYR1):c.7149C>A (p.Ala2383=)
|
|
|
NM_000540.3(RYR1):c.7149C>T (p.Ala2383=)
|
rs1197705872
|
|
NM_000540.3(RYR1):c.7152C>T (p.Ile2384=)
|
|
|
NM_000540.3(RYR1):c.7166A>G (p.Asp2389Gly)
|
|
|
NM_000540.3(RYR1):c.7178A>C (p.Asp2393Ala)
|
|
|
NM_000540.3(RYR1):c.717C>T (p.Asp239=)
|
|
|
NM_000540.3(RYR1):c.7180G>T (p.Gly2394Cys)
|
|
|
NM_000540.3(RYR1):c.7189A>G (p.Ile2397Val)
|
|
|
NM_000540.3(RYR1):c.7200C>T (p.Asp2400=)
|
|
|
NM_000540.3(RYR1):c.7205G>A (p.Arg2402Gln)
|
rs1316906057
|
|
NM_000540.3(RYR1):c.7205_7214+14del
|
|
|
NM_000540.3(RYR1):c.7206G>A (p.Arg2402=)
|
|
|
NM_000540.3(RYR1):c.7208_7209delinsAT (p.Arg2403His)
|
|
|
NM_000540.3(RYR1):c.7210G>T (p.Glu2404Ter)
|
rs111364296
|
|
NM_000540.3(RYR1):c.7212G>A (p.Glu2404=)
|
|
|
NM_000540.3(RYR1):c.7214+11C>T
|
|
|
NM_000540.3(RYR1):c.7214+12G>A
|
|
|
NM_000540.3(RYR1):c.7214+15C>G
|
|
|
NM_000540.3(RYR1):c.7214+16C>A
|
rs1419864667
|
|
NM_000540.3(RYR1):c.7214+17C>G
|
rs192239942
|
|
NM_000540.3(RYR1):c.7214+17C>T
|
|
|
NM_000540.3(RYR1):c.7214+21del
|
rs376036930
|
|
NM_000540.3(RYR1):c.7215-11C>T
|
|
|
NM_000540.3(RYR1):c.7215-1G>T
|
|
|
NM_000540.3(RYR1):c.7215-6C>T
|
rs2145601794
|
|
NM_000540.3(RYR1):c.7215-7C>G
|
|
|
NM_000540.3(RYR1):c.7215del (p.Phe2406fs)
|
rs1568501473
|
|
NM_000540.3(RYR1):c.7218T>C (p.Phe2406=)
|
|
|
NM_000540.3(RYR1):c.7227A>G (p.Glu2409=)
|
|
|
NM_000540.3(RYR1):c.7231C>T (p.Pro2411Ser)
|
|
|
NM_000540.3(RYR1):c.7233del (p.Glu2412fs)
|
rs2145601896
|
|
NM_000540.3(RYR1):c.7237G>A (p.Glu2413Lys)
|
|
|
NM_000540.3(RYR1):c.7237G>T (p.Glu2413Ter)
|
rs1555783458
|
|
NM_000540.3(RYR1):c.7243C>G (p.Arg2415Gly)
|
rs368013861
|
|
NM_000540.3(RYR1):c.7243C>T (p.Arg2415Trp)
|
rs368013861
|
|
NM_000540.3(RYR1):c.7246G>A (p.Val2416Met)
|
|
|
NM_000540.3(RYR1):c.725+16G>A
|
|
|
NM_000540.3(RYR1):c.725+16G>T
|
|
|
NM_000540.3(RYR1):c.725+17A>C
|
|
|
NM_000540.3(RYR1):c.725+5G>A
|
|
|
NM_000540.3(RYR1):c.7252C>G (p.Leu2418Val)
|
rs761917791
|
|
NM_000540.3(RYR1):c.726-12C>G
|
|
|
NM_000540.3(RYR1):c.726-5C>T
|
rs2145351914
|
|
NM_000540.3(RYR1):c.7261G>A (p.Ala2421Thr)
|
|
|
NM_000540.3(RYR1):c.7261G>C (p.Ala2421Pro)
|
rs193922808
|
|
NM_000540.3(RYR1):c.7264A>G (p.Ile2422Val)
|
|
|
NM_000540.3(RYR1):c.7275C>T (p.Phe2425=)
|
|
|
NM_000540.3(RYR1):c.7278T>C (p.Tyr2426=)
|
rs2145602150
|
|
NM_000540.3(RYR1):c.7290C>A (p.Ile2430=)
|
|
|
NM_000540.3(RYR1):c.7290C>T (p.Ile2430=)
|
rs752588287
|
|
NM_000540.3(RYR1):c.7291G>T (p.Asp2431Tyr)
|
rs193922810
|
|
NM_000540.3(RYR1):c.7292A>T (p.Asp2431Val)
|
rs2145602229
|
|
NM_000540.3(RYR1):c.7298T>C (p.Leu2433Pro)
|
rs1600822174
|
|
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.7307G>A (p.Cys2436Tyr)
|
rs2145602328
|
|
NM_000540.3(RYR1):c.7308_7309del (p.Ala2437fs)
|
|
|
NM_000540.3(RYR1):c.7310C>T (p.Ala2437Val)
|
rs193922812
|
|
NM_000540.3(RYR1):c.7311A>G (p.Ala2437=)
|
|
|
NM_000540.3(RYR1):c.7314A>G (p.Pro2438=)
|
|
|
NM_000540.3(RYR1):c.7315G>A (p.Glu2439Lys)
|
rs1568501702
|
|
NM_000540.3(RYR1):c.7316A>G (p.Glu2439Gly)
|
|
|
NM_000540.3(RYR1):c.7317G>C (p.Glu2439Asp)
|
rs193922813
|
|
NM_000540.3(RYR1):c.7323+10T>G
|
|
|
NM_000540.3(RYR1):c.7323+15_7323+20del
|
|
|
NM_000540.3(RYR1):c.7323+17G>A
|
|
|
NM_000540.3(RYR1):c.7323+24_7323+41dup
|
|
|
NM_000540.3(RYR1):c.7323+8C>T
|
|
|
NM_000540.3(RYR1):c.7324-10dup
|
|
|
NM_000540.3(RYR1):c.7324-14C>G
|
|
|
NM_000540.3(RYR1):c.7324-18C>G
|
|
|
NM_000540.3(RYR1):c.7324-19C>G
|
|
|
NM_000540.3(RYR1):c.7324-1G>A
|
rs193922814
|
|
NM_000540.3(RYR1):c.7324-1G>T
|
rs193922814
|
|
NM_000540.3(RYR1):c.7324-9A>C
|
|
|
NM_000540.3(RYR1):c.7324-9A>T
|
|
|
NM_000540.3(RYR1):c.7328T>C (p.Ile2443Thr)
|
|
|
NM_000540.3(RYR1):c.7330C>T (p.Gln2444Ter)
|
rs1970064722
|
|
NM_000540.3(RYR1):c.7334C>A (p.Ala2445Asp)
|
|
|
NM_000540.3(RYR1):c.7336G>T (p.Gly2446Cys)
|
|
|
NM_000540.3(RYR1):c.7343G>A (p.Gly2448Asp)
|
rs1600824259
|
|
NM_000540.3(RYR1):c.7344T>G (p.Gly2448=)
|
|
|
NM_000540.3(RYR1):c.7345G>C (p.Glu2449Gln)
|
rs1188413933
|
|
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp)
|
rs118192124
|
|
NM_000540.3(RYR1):c.7355G>A (p.Arg2452Gln)
|
rs193922815
|
|
NM_000540.3(RYR1):c.7355G>C (p.Arg2452Pro)
|
rs193922815
|
|
NM_000540.3(RYR1):c.7358T>C (p.Ile2453Thr)
|
rs118192123
|
|
NM_000540.3(RYR1):c.735C>G (p.Tyr245Ter)
|
|
|
NM_000540.3(RYR1):c.7360C>A (p.Arg2454Ser)
|
|
|
NM_000540.3(RYR1):c.7364C>A (p.Ala2455Asp)
|
rs1970067755
|
|
NM_000540.3(RYR1):c.7368C>G (p.Ile2456Met)
|
|
|
NM_000540.3(RYR1):c.7373G>T (p.Arg2458Leu)
|
rs121918594
|
|
NM_000540.3(RYR1):c.7374C>T (p.Arg2458=)
|
|
|
NM_000540.3(RYR1):c.7375T>C (p.Ser2459Pro)
|
rs1970068453
|
|
NM_000540.3(RYR1):c.7376C>T (p.Ser2459Phe)
|
|
|
NM_000540.3(RYR1):c.7378C>T (p.Leu2460Phe)
|
rs2145605039
|
|
NM_000540.3(RYR1):c.7380T>G (p.Leu2460=)
|
|
|
NM_000540.3(RYR1):c.7386C>G (p.Pro2462=)
|
rs751448656
|
|
NM_000540.3(RYR1):c.7386C>T (p.Pro2462=)
|
rs751448656
|
|
NM_000540.3(RYR1):c.738T>C (p.Tyr246=)
|
|
|
NM_000540.3(RYR1):c.738T>G (p.Tyr246Ter)
|
rs367543054
|
|
NM_000540.3(RYR1):c.7392G>A (p.Glu2464=)
|
|
|
NM_000540.3(RYR1):c.7393G>A (p.Asp2465Asn)
|
|
|
NM_000540.3(RYR1):c.7396C>T (p.Leu2466Phe)
|
rs767343838
|
|
NM_000540.3(RYR1):c.7420C>G (p.Leu2474Val)
|
|
|
NM_000540.3(RYR1):c.7425G>A (p.Gln2475=)
|
rs35512081
|
|
NM_000540.3(RYR1):c.7426A>T (p.Ile2476Phe)
|
|
|
NM_000540.3(RYR1):c.742G>A (p.Gly248Arg)
|
rs1801086
|
|
NM_000540.3(RYR1):c.742G>C (p.Gly248Arg)
|
rs1801086
|
|
NM_000540.3(RYR1):c.742G>T (p.Gly248Trp)
|
rs1801086
|
|
NM_000540.3(RYR1):c.7435C>A (p.Leu2479Met)
|
|
|
NM_000540.3(RYR1):c.743G>C (p.Gly248Ala)
|
rs989228219
|
|
NM_000540.3(RYR1):c.7442A>G (p.Lys2481Arg)
|
rs2145605367
|
|
NM_000540.3(RYR1):c.7444+10G>A
|
rs1970073730
|
|
NM_000540.3(RYR1):c.7444+11G>A
|
|
|
NM_000540.3(RYR1):c.7444+12A>T
|
|
|
NM_000540.3(RYR1):c.7444+14G>A
|
|
|
NM_000540.3(RYR1):c.7444+2T>C
|
|
|
NM_000540.3(RYR1):c.7444+5A>G
|
rs775251569
|
|
NM_000540.3(RYR1):c.7444+9G>A
|
|
|
NM_000540.3(RYR1):c.7444+9G>T
|
rs762924971
|
|
NM_000540.3(RYR1):c.7445-12C>G
|
|
|
NM_000540.3(RYR1):c.7445-13T>A
|
rs1600825341
|
|
NM_000540.3(RYR1):c.7445-15C>T
|
|
|
NM_000540.3(RYR1):c.7445-16C>T
|
|
|
NM_000540.3(RYR1):c.7445-18C>T
|
|
|
NM_000540.3(RYR1):c.7445A>G (p.Asp2482Gly)
|
|
|
NM_000540.3(RYR1):c.744G>C (p.Gly248=)
|
|
|
NM_000540.3(RYR1):c.7450G>T (p.Ala2484Ser)
|
|
|
NM_000540.3(RYR1):c.7451C>T (p.Ala2484Val)
|
|
|
NM_000540.3(RYR1):c.7459C>G (p.Gln2487Glu)
|
rs749392499
|
|
NM_000540.3(RYR1):c.7463_7475del (p.Pro2488fs)
|
rs794727683
|
|
NM_000540.3(RYR1):c.7467G>A (p.Lys2489=)
|
|
|
NM_000540.3(RYR1):c.7476A>G (p.Ala2492=)
|
|
|
NM_000540.3(RYR1):c.7479C>G (p.Ser2493=)
|
|
|
NM_000540.3(RYR1):c.747A>G (p.Gly249=)
|
rs2145352165
|
|
NM_000540.3(RYR1):c.7482C>G (p.Phe2494Leu)
|
rs201375572
|
|
NM_000540.3(RYR1):c.7482C>T (p.Phe2494=)
|
rs201375572
|
|
NM_000540.3(RYR1):c.7487C>G (p.Pro2496Arg)
|
rs193922817
|
|
NM_000540.3(RYR1):c.7489G>C (p.Asp2497His)
|
rs1430162222
|
|
NM_000540.3(RYR1):c.7496A>G (p.Lys2499Arg)
|
|
|
NM_000540.3(RYR1):c.7497G>T (p.Lys2499Asn)
|
rs1600825640
|
|
NM_000540.3(RYR1):c.7499C>T (p.Ala2500Val)
|
rs759055097
|
|
NM_000540.3(RYR1):c.7500G>T (p.Ala2500=)
|
rs2228072
|
|
NM_000540.3(RYR1):c.7509G>C (p.Val2503=)
|
|
|
NM_000540.3(RYR1):c.7510C>T (p.Leu2504Phe)
|
rs2145606297
|
|
NM_000540.3(RYR1):c.7515C>T (p.Phe2505=)
|
|
|
NM_000540.3(RYR1):c.7521C>G (p.Asp2507Glu)
|
|
|
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.7524T>G (p.Arg2508=)
|
rs886038340
|
|
NM_000540.3(RYR1):c.7526T>C (p.Val2509Ala)
|
|
|
NM_000540.3(RYR1):c.7526T>G (p.Val2509Gly)
|
rs2145606371
|
|
NM_000540.3(RYR1):c.7528T>C (p.Tyr2510His)
|
rs193922819
|
|
NM_000540.3(RYR1):c.7530T>C (p.Tyr2510=)
|
|
|
NM_000540.3(RYR1):c.7536C>G (p.Ile2512Met)
|
|
|
NM_000540.3(RYR1):c.7537G>A (p.Glu2513Lys)
|
rs1970086634
|
|
NM_000540.3(RYR1):c.7539G>A (p.Glu2513=)
|
rs2145606456
|
|
NM_000540.3(RYR1):c.7543C>A (p.Gln2515Lys)
|
|
|
NM_000540.3(RYR1):c.7543C>T (p.Gln2515Ter)
|
rs1568503046
|
|
NM_000540.3(RYR1):c.7552T>C (p.Leu2518=)
|
|
|
NM_000540.3(RYR1):c.7555C>T (p.Leu2519=)
|
|
|
NM_000540.3(RYR1):c.7559A>G (p.His2520Arg)
|
|
|
NM_000540.3(RYR1):c.7569C>G (p.Asp2523Glu)
|
|
|
NM_000540.3(RYR1):c.7569C>T (p.Asp2523=)
|
rs778952441
|
|
NM_000540.3(RYR1):c.7581G>A (p.Leu2527=)
|
|
|
NM_000540.3(RYR1):c.7582C>T (p.Pro2528Ser)
|
rs1970088268
|
|
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.7585G>A (p.Asp2529Asn)
|
rs773050889
|
|
NM_000540.3(RYR1):c.7588A>C (p.Met2530Leu)
|
|
|
NM_000540.3(RYR1):c.7592G>A (p.Arg2531Lys)
|
|
|
NM_000540.3(RYR1):c.7602C>T (p.Ala2534=)
|
|
|
NM_000540.3(RYR1):c.7605G>A (p.Ser2535=)
|
rs1241398552
|
|
NM_000540.3(RYR1):c.7613C>A (p.Thr2538Lys)
|
|
|
NM_000540.3(RYR1):c.7614+11del
|
|
|
NM_000540.3(RYR1):c.7614+16C>A
|
rs557965577
|
|
NM_000540.3(RYR1):c.7614+18G>A
|
|
|
NM_000540.3(RYR1):c.7614+1G>A
|
rs2145606794
|
|
NM_000540.3(RYR1):c.7614+20C>T
|
|
|
NM_000540.3(RYR1):c.7614+9C>T
|
rs775021651
|
|
NM_000540.3(RYR1):c.7615-11del
|
|
|
NM_000540.3(RYR1):c.7615-12C>T
|
|
|
NM_000540.3(RYR1):c.7615-1G>T
|
rs1317181118
|
|
NM_000540.3(RYR1):c.7615-3T>G
|
|
|
NM_000540.3(RYR1):c.7615-4C>G
|
|
|
NM_000540.3(RYR1):c.7615-6C>T
|
|
|
NM_000540.3(RYR1):c.7615-8C>T
|
|
|
NM_000540.3(RYR1):c.7616C>G (p.Ala2539Gly)
|
rs761057071
|
|
NM_000540.3(RYR1):c.7623C>T (p.Phe2541=)
|
|
|
NM_000540.3(RYR1):c.7625G>A (p.Ser2542Asn)
|
rs1220636855
|
|
NM_000540.3(RYR1):c.762T>C (p.His254=)
|
|
|
NM_000540.3(RYR1):c.7632C>T (p.Thr2544=)
|
|
|
NM_000540.3(RYR1):c.7635G>A (p.Glu2545=)
|
|
|
NM_000540.3(RYR1):c.7635G>C (p.Glu2545Asp)
|
rs193922820
|
|
NM_000540.3(RYR1):c.7636A>G (p.Met2546Val)
|
|
|
NM_000540.3(RYR1):c.763G>A (p.Ala255Thr)
|
|
|
NM_000540.3(RYR1):c.7641G>C (p.Ala2547=)
|
|
|
NM_000540.3(RYR1):c.7647G>A (p.Ala2549=)
|
rs547811862
|
|
NM_000540.3(RYR1):c.7648C>G (p.Leu2550Val)
|
rs193922821
|
|
NM_000540.3(RYR1):c.7650G>C (p.Leu2550=)
|
rs367825019
|
|
NM_000540.3(RYR1):c.7650G>T (p.Leu2550=)
|
rs367825019
|
|
NM_000540.3(RYR1):c.7655_7660del (p.Arg2552_Tyr2553del)
|
rs1568504976
|
|
NM_000540.3(RYR1):c.7661T>C (p.Leu2554Pro)
|
rs1292252892
|
|
NM_000540.3(RYR1):c.7663T>G (p.Cys2555Gly)
|
rs1600831610
|
|
NM_000540.3(RYR1):c.7668G>T (p.Leu2556=)
|
rs761061652
|
|
NM_000540.3(RYR1):c.7671C>T (p.Ala2557=)
|
|
|
NM_000540.3(RYR1):c.7679C>G (p.Pro2560Arg)
|
rs1164159550
|
|
NM_000540.3(RYR1):c.7680G>A (p.Pro2560=)
|
rs752993876
|
|
NM_000540.3(RYR1):c.7680G>T (p.Pro2560=)
|
rs752993876
|
|
NM_000540.3(RYR1):c.7681C>T (p.Leu2561Phe)
|
|
|
NM_000540.3(RYR1):c.7684A>G (p.Ile2562Val)
|
rs1359576805
|
|
NM_000540.3(RYR1):c.7684A>T (p.Ile2562Phe)
|
rs1359576805
|
|
NM_000540.3(RYR1):c.768C>T (p.Arg256=)
|
|
|
NM_000540.3(RYR1):c.7692G>A (p.Lys2564=)
|
rs886038341
|
|
NM_000540.3(RYR1):c.7692G>C (p.Lys2564Asn)
|
|
|
NM_000540.3(RYR1):c.7695T>C (p.Cys2565=)
|
|
|
NM_000540.3(RYR1):c.7696G>A (p.Ala2566Thr)
|
|
|
NM_000540.3(RYR1):c.7697C>T (p.Ala2566Val)
|
|
|
NM_000540.3(RYR1):c.7698G>C (p.Ala2566=)
|
|
|
NM_000540.3(RYR1):c.7699C>G (p.Pro2567Ala)
|
|
|
NM_000540.3(RYR1):c.76A>C (p.Thr26Pro)
|
rs1972635177
|
|
NM_000540.3(RYR1):c.7701G>A (p.Pro2567=)
|
rs1420408214
|
|
NM_000540.3(RYR1):c.7704C>T (p.Leu2568=)
|
|
|
NM_000540.3(RYR1):c.7706T>C (p.Phe2569Ser)
|
|
|
NM_000540.3(RYR1):c.7706T>G (p.Phe2569Cys)
|
|
|
NM_000540.3(RYR1):c.7707T>C (p.Phe2569=)
|
rs368416757
|
|
NM_000540.3(RYR1):c.7712G>C (p.Gly2571Ala)
|
|
|
NM_000540.3(RYR1):c.7713C>G (p.Gly2571=)
|
rs1159750263
|
|
NM_000540.3(RYR1):c.7713C>T (p.Gly2571=)
|
rs1159750263
|
|
NM_000540.3(RYR1):c.7719_7768dup (p.Ser2590fs)
|
|
|
NM_000540.3(RYR1):c.7723C>T (p.Arg2575Cys)
|
rs1970183094
|
|
NM_000540.3(RYR1):c.7724G>C (p.Arg2575Pro)
|
rs369450781
|
|
NM_000540.3(RYR1):c.7725C>A (p.Arg2575=)
|
|
|
NM_000540.3(RYR1):c.7725C>T (p.Arg2575=)
|
rs1020398192
|
|
NM_000540.3(RYR1):c.7729A>C (p.Ile2577Leu)
|
rs567321458
|
|
NM_000540.3(RYR1):c.7729A>G (p.Ile2577Val)
|
rs567321458
|
|
NM_000540.3(RYR1):c.7731C>T (p.Ile2577=)
|
|
|
NM_000540.3(RYR1):c.7732A>T (p.Met2578Leu)
|
|
|
NM_000540.3(RYR1):c.7736T>G (p.Val2579Gly)
|
rs754579512
|
|
NM_000540.3(RYR1):c.7742C>T (p.Ser2581Phe)
|
rs746348043
|
|
NM_000540.3(RYR1):c.7743T>C (p.Ser2581=)
|
rs1477392994
|
|
NM_000540.3(RYR1):c.7744_7745del (p.Met2582fs)
|
rs2145614282
|
|
NM_000540.3(RYR1):c.7747C>T (p.Leu2583=)
|
rs775707501
|
|
NM_000540.3(RYR1):c.7750C>T (p.His2584Tyr)
|
|
|
NM_000540.3(RYR1):c.7752T>C (p.His2584=)
|
rs1324550196
|
|
NM_000540.3(RYR1):c.7753A>G (p.Thr2585Ala)
|
|
|
NM_000540.3(RYR1):c.7755C>G (p.Thr2585=)
|
rs768702294
|
|
NM_000540.3(RYR1):c.7761C>T (p.Tyr2587=)
|
|
|
NM_000540.3(RYR1):c.7762C>T (p.Arg2588Cys)
|
rs745885315
|
|
NM_000540.3(RYR1):c.7763G>C (p.Arg2588Pro)
|
|
|
NM_000540.3(RYR1):c.7765C>T (p.Leu2589=)
|
|
|
NM_000540.3(RYR1):c.7767G>C (p.Leu2589=)
|
|
|
NM_000540.3(RYR1):c.776G>A (p.Trp259Ter)
|
|
|
NM_000540.3(RYR1):c.7770_7786dup (p.Thr2596fs)
|
rs2145614578
|
|
NM_000540.3(RYR1):c.7770dup (p.Arg2591fs)
|
|
|
NM_000540.3(RYR1):c.7771C>T (p.Arg2591Trp)
|
rs193922822
|
|
NM_000540.3(RYR1):c.7772G>A (p.Arg2591Gln)
|
rs758169018
|
|
NM_000540.3(RYR1):c.7774G>C (p.Gly2592Arg)
|
|
|
NM_000540.3(RYR1):c.7775dup (p.Arg2593fs)
|
rs1281875506
|
|
NM_000540.3(RYR1):c.7777C>G (p.Arg2593Gly)
|
rs756685891
|
|
NM_000540.3(RYR1):c.7782G>A (p.Ser2594=)
|
rs769096297
|
|
NM_000540.3(RYR1):c.7783C>T (p.Leu2595Phe)
|
|
|
NM_000540.3(RYR1):c.7784_7791del (p.Leu2595fs)
|
rs1600832922
|
|
NM_000540.3(RYR1):c.7787C>G (p.Thr2596Ser)
|
rs193922824
|
|
NM_000540.3(RYR1):c.7788C>G (p.Thr2596=)
|
|
|
NM_000540.3(RYR1):c.7793C>G (p.Ala2598Gly)
|
rs770719689
|
|
NM_000540.3(RYR1):c.7793C>T (p.Ala2598Val)
|
|
|
NM_000540.3(RYR1):c.7794G>A (p.Ala2598=)
|
rs576856474
|
|
NM_000540.3(RYR1):c.7794G>C (p.Ala2598=)
|
|
|
NM_000540.3(RYR1):c.7794G>T (p.Ala2598=)
|
|
|
NM_000540.3(RYR1):c.7799G>A (p.Arg2600His)
|
rs201749008
|
|
NM_000540.3(RYR1):c.7806C>A (p.Val2602=)
|
rs1487018944
|
|
NM_000540.3(RYR1):c.7806C>T (p.Val2602=)
|
|
|
NM_000540.3(RYR1):c.7810G>A (p.Glu2604Lys)
|
|
|
NM_000540.3(RYR1):c.7812G>A (p.Glu2604=)
|
|
|
NM_000540.3(RYR1):c.7815C>T (p.Asp2605=)
|
|
|
NM_000540.3(RYR1):c.7816T>A (p.Cys2606Ser)
|
rs748575133
|
|
NM_000540.3(RYR1):c.7817G>A (p.Cys2606Tyr)
|
rs1358912817
|
|
NM_000540.3(RYR1):c.7818C>T (p.Cys2606=)
|
|
|
NM_000540.3(RYR1):c.7819C>T (p.Leu2607Phe)
|
|
|
NM_000540.3(RYR1):c.781C>T (p.Leu261=)
|
rs1600650707
|
|
NM_000540.3(RYR1):c.7821C>T (p.Leu2607=)
|
|
|
NM_000540.3(RYR1):c.7823T>G (p.Met2608Arg)
|
|
|
NM_000540.3(RYR1):c.7825T>G (p.Ser2609Ala)
|
|
|
NM_000540.3(RYR1):c.7826C>G (p.Ser2609Trp)
|
rs747045754
|
|
NM_000540.3(RYR1):c.7828C>T (p.Leu2610Phe)
|
|
|
NM_000540.3(RYR1):c.7830C>G (p.Leu2610=)
|
rs140063541
|
|
NM_000540.3(RYR1):c.7835+11G>A
|
|
|
NM_000540.3(RYR1):c.7835+11_7835+17dup
|
|
|
NM_000540.3(RYR1):c.7835+11dup
|
|
|
NM_000540.3(RYR1):c.7835+12C>A
|
rs755502084
|
|
NM_000540.3(RYR1):c.7835+12C>G
|
|
|
NM_000540.3(RYR1):c.7835+12C>T
|
rs755502084
|
|
NM_000540.3(RYR1):c.7835+13A>C
|
|
|
NM_000540.3(RYR1):c.7835+13A>G
|
rs1568505885
|
|
NM_000540.3(RYR1):c.7835+14G>C
|
rs752999387
|
|
NM_000540.3(RYR1):c.7835+14G>T
|
|
|
NM_000540.3(RYR1):c.7835+16_7835+26del
|
rs752436026
|
|
NM_000540.3(RYR1):c.7835+16_7835+44del
|
rs1215348407
|
|
NM_000540.3(RYR1):c.7835+16_7835+50del
|
rs1356167256
|
|
NM_000540.3(RYR1):c.7835+16del
|
|
|
NM_000540.3(RYR1):c.7835+17T>C
|
|
|
NM_000540.3(RYR1):c.7835+17T>G
|
|
|
NM_000540.3(RYR1):c.7835+18T>G
|
|
|
NM_000540.3(RYR1):c.7835+1G>A
|
rs1057524858
|
|
NM_000540.3(RYR1):c.7835+20A>G
|
|
|
NM_000540.3(RYR1):c.7835+25GGGGCA[10]
|
rs71165552
|
|
NM_000540.3(RYR1):c.7835+25GGGGCA[6]
|
rs71165552
|
|
NM_000540.3(RYR1):c.7835+25GGGGCA[7]
|
rs71165552
|
|
NM_000540.3(RYR1):c.7835+25GGGGCA[8]
|
rs71165552
|
|
NM_000540.3(RYR1):c.7835+2T>G
|
rs1970195394
|
|
NM_000540.3(RYR1):c.7835+3G>A
|
|
|
NM_000540.3(RYR1):c.7835+3_7835+19dup
|
|
|
NM_000540.3(RYR1):c.7835+4_7835+5delinsAG
|
rs2145615354
|
|
NM_000540.3(RYR1):c.7835+4_7835+5insGGCGG
|
|
|
NM_000540.3(RYR1):c.7835+4_7835+5insGGCGGGGCAGGCTTCAGGGTGG
|
rs1970195017
|
|
NM_000540.3(RYR1):c.7835+5_7835+21dup
|
|
|
NM_000540.3(RYR1):c.7835+5_7835+26dup
|
rs762183772
|
|
NM_000540.3(RYR1):c.7835+62_7836-50del
|
rs759994347
|
|
NM_000540.3(RYR1):c.7835+68_7836-50del
|
rs755976093
|
|
NM_000540.3(RYR1):c.7835+6_7835+36delinsAGC
|
rs1555784450
|
|
NM_000540.3(RYR1):c.7835+71C>G
|
rs571965110
|
|
NM_000540.3(RYR1):c.7835+74_7836-50del
|
rs1212437981
|
|
NM_000540.3(RYR1):c.7835+7C>A
|
|
|
NM_000540.3(RYR1):c.7835+7C>G
|
rs114522234
|
|
NM_000540.3(RYR1):c.7835+8G>C
|
|
|
NM_000540.3(RYR1):c.7835+9G>C
|
|
|
NM_000540.3(RYR1):c.7835G>C (p.Arg2612Thr)
|
rs769677939
|
|
NM_000540.3(RYR1):c.7836-10T>C
|
|
|
NM_000540.3(RYR1):c.7836-11T>G
|
|
|
NM_000540.3(RYR1):c.7836-13C>A
|
|
|
NM_000540.3(RYR1):c.7836-13C>G
|
rs377583365
|
|
NM_000540.3(RYR1):c.7836-14G>A
|
|
|
NM_000540.3(RYR1):c.7836-15T>C
|
|
|
NM_000540.3(RYR1):c.7836-17T>G
|
|
|
NM_000540.3(RYR1):c.7836-18T>G
|
|
|
NM_000540.3(RYR1):c.7836-19C>A
|
|
|
NM_000540.3(RYR1):c.7836-19C>G
|
rs201378267
|
|
NM_000540.3(RYR1):c.7836-1G>A
|
rs1568507354
|
|
NM_000540.3(RYR1):c.7836-20T>A
|
|
|
NM_000540.3(RYR1):c.7836-20T>G
|
|
|
NM_000540.3(RYR1):c.7836-29G>C
|
rs780267023
|
|
NM_000540.3(RYR1):c.7836-2A>G
|
|
|
NM_000540.3(RYR1):c.7836-3C>G
|
|
|
NM_000540.3(RYR1):c.7836-3C>T
|
rs1345584460
|
|
NM_000540.3(RYR1):c.7836-4G>A
|
|
|
NM_000540.3(RYR1):c.7836-5C>A
|
rs1301933255
|
|
NM_000540.3(RYR1):c.7836-5C>T
|
rs1301933255
|
|
NM_000540.3(RYR1):c.7836-6C>T
|
rs780269941
|
|
NM_000540.3(RYR1):c.7836-70_7836-53del
|
rs1249205810
|
|
NM_000540.3(RYR1):c.7836-70_7836-59del
|
rs1377967442
|
|
NM_000540.3(RYR1):c.7836-73_7836-50del
|
rs1211946994
|
|
NM_000540.3(RYR1):c.7836-8T>C
|
|
|
NM_000540.3(RYR1):c.7838A>C (p.Tyr2613Ser)
|
|
|
NM_000540.3(RYR1):c.7841T>A (p.Ile2614Asn)
|
rs1274889477
|
|
NM_000540.3(RYR1):c.7842C>G (p.Ile2614Met)
|
|
|
NM_000540.3(RYR1):c.7845C>G (p.Arg2615=)
|
|
|
NM_000540.3(RYR1):c.7845C>T (p.Arg2615=)
|
rs1490859401
|
|
NM_000540.3(RYR1):c.7846C>T (p.Pro2616Ser)
|
rs2145619973
|
|
NM_000540.3(RYR1):c.7847C>G (p.Pro2616Arg)
|
rs1555784680
|
|
NM_000540.3(RYR1):c.7847del (p.Pro2616fs)
|
rs1970255367
|
|
NM_000540.3(RYR1):c.7848G>A (p.Pro2616=)
|
|
|
NM_000540.3(RYR1):c.7848G>C (p.Pro2616=)
|
|
|
NM_000540.3(RYR1):c.7848G>T (p.Pro2616=)
|
rs200708363
|
|
NM_000540.3(RYR1):c.784G>T (p.Glu262Ter)
|
rs1381186128
|
|
NM_000540.3(RYR1):c.7850C>A (p.Ser2617Ter)
|
rs780836747
|
|
NM_000540.3(RYR1):c.7850C>G (p.Ser2617Trp)
|
|
|
NM_000540.3(RYR1):c.7851G>T (p.Ser2617=)
|
rs745334519
|
|
NM_000540.3(RYR1):c.7853T>G (p.Met2618Arg)
|
|
|
NM_000540.3(RYR1):c.7855C>G (p.Leu2619Val)
|
|
|
NM_000540.3(RYR1):c.7856T>C (p.Leu2619Pro)
|
rs1263237391
|
|
NM_000540.3(RYR1):c.7857G>C (p.Leu2619=)
|
rs547048377
|
|
NM_000540.3(RYR1):c.785A>G (p.Glu262Gly)
|
|
|
NM_000540.3(RYR1):c.7863C>G (p.His2621Gln)
|
|
|
NM_000540.3(RYR1):c.7863_7864delinsTT (p.His2621_Leu2622=)
|
rs1600837712
|
|
NM_000540.3(RYR1):c.7866G>A (p.Leu2622=)
|
|
|
NM_000540.3(RYR1):c.7866G>C (p.Leu2622=)
|
rs1970258117
|
|
NM_000540.3(RYR1):c.7866G>T (p.Leu2622=)
|
|
|
NM_000540.3(RYR1):c.7867T>C (p.Leu2623=)
|
rs1245061560
|
|
NM_000540.3(RYR1):c.7869G>C (p.Leu2623Phe)
|
|
|
NM_000540.3(RYR1):c.7871G>C (p.Arg2624Pro)
|
|
|
NM_000540.3(RYR1):c.7872C>A (p.Arg2624=)
|
rs1469698
|
|
NM_000540.3(RYR1):c.7872C>G (p.Arg2624=)
|
rs1469698
|
|
NM_000540.3(RYR1):c.7872_7873delinsTT (p.Arg2625Cys)
|
rs2145620310
|
|
NM_000540.3(RYR1):c.7874G>A (p.Arg2625His)
|
|
|
NM_000540.3(RYR1):c.7874G>C (p.Arg2625Pro)
|
rs751301767
|
|
NM_000540.3(RYR1):c.7874G>T (p.Arg2625Leu)
|
rs751301767
|
|
NM_000540.3(RYR1):c.7876C>G (p.Leu2626Val)
|
rs145446438
|
|
NM_000540.3(RYR1):c.7878G>A (p.Leu2626=)
|
rs148907377
|
|
NM_000540.3(RYR1):c.7878G>C (p.Leu2626=)
|
rs148907377
|
|
NM_000540.3(RYR1):c.7879G>A (p.Val2627Met)
|
rs914804033
|
|
NM_000540.3(RYR1):c.7880T>G (p.Val2627Gly)
|
rs747337318
|
|
NM_000540.3(RYR1):c.7887C>A (p.Asp2629Glu)
|
|
|
NM_000540.3(RYR1):c.7887C>G (p.Asp2629Glu)
|
|
|
NM_000540.3(RYR1):c.7887C>T (p.Asp2629=)
|
rs759821097
|
|
NM_000540.3(RYR1):c.7888G>C (p.Val2630Leu)
|
rs193922825
|
|
NM_000540.3(RYR1):c.7890G>A (p.Val2630=)
|
rs763110834
|
|
NM_000540.3(RYR1):c.7890G>C (p.Val2630=)
|
rs763110834
|
|
NM_000540.3(RYR1):c.7893C>T (p.Pro2631=)
|
|
|
NM_000540.3(RYR1):c.78C>T (p.Thr26=)
|
rs372508199
|
|
NM_000540.3(RYR1):c.7902C>T (p.Asn2634=)
|
|
|
NM_000540.3(RYR1):c.7903G>C (p.Glu2635Gln)
|
rs750282403
|
|
NM_000540.3(RYR1):c.7908C>T (p.Phe2636=)
|
rs1461283755
|
|
NM_000540.3(RYR1):c.7909G>C (p.Ala2637Pro)
|
rs1204662800
|
|
NM_000540.3(RYR1):c.7909G>T (p.Ala2637Ser)
|
|
|
NM_000540.3(RYR1):c.7911C>T (p.Ala2637=)
|
|
|
NM_000540.3(RYR1):c.7914G>A (p.Lys2638=)
|
|
|
NM_000540.3(RYR1):c.7915A>C (p.Met2639Leu)
|
|
|
NM_000540.3(RYR1):c.7925A>G (p.Lys2642Arg)
|
rs748696547
|
|
NM_000540.3(RYR1):c.7926+11G>A
|
rs112124868
|
|
NM_000540.3(RYR1):c.7926+11G>C
|
|
|
NM_000540.3(RYR1):c.7926+12C>G
|
rs747494749
|
|
NM_000540.3(RYR1):c.7926+12C>T
|
|
|
NM_000540.3(RYR1):c.7926+14C>G
|
|
|
NM_000540.3(RYR1):c.7926+15T>C
|
|
|
NM_000540.3(RYR1):c.7926+2T>C
|
rs1555784801
|
|
NM_000540.3(RYR1):c.7927-109_7927-107del
|
rs34529638
|
|
NM_000540.3(RYR1):c.7927-12G>A
|
|
|
NM_000540.3(RYR1):c.7927-13T>C
|
|
|
NM_000540.3(RYR1):c.7927-15C>T
|
rs1339593244
|
|
NM_000540.3(RYR1):c.7927-16T>C
|
|
|
NM_000540.3(RYR1):c.7927-17C>G
|
|
|
NM_000540.3(RYR1):c.7927-19C>G
|
|
|
NM_000540.3(RYR1):c.7927-1G>T
|
|
|
NM_000540.3(RYR1):c.7927-4C>A
|
|
|
NM_000540.3(RYR1):c.7927-7C>T
|
rs886054395
|
|
NM_000540.3(RYR1):c.7927-9C>T
|
|
|
NM_000540.3(RYR1):c.7936A>G (p.Asn2646Asp)
|
rs746174410
|
|
NM_000540.3(RYR1):c.7943A>G (p.Tyr2648Cys)
|
|
|
NM_000540.3(RYR1):c.7948C>T (p.Arg2650Cys)
|
rs1970336071
|
|
NM_000540.3(RYR1):c.7949G>A (p.Arg2650His)
|
|
|
NM_000540.3(RYR1):c.7954dup (p.Trp2652fs)
|
rs1600842678
|
|
NM_000540.3(RYR1):c.7956del (p.Cys2651_Trp2652insTer)
|
|
|
NM_000540.3(RYR1):c.7958A>G (p.Lys2653Arg)
|
rs199864636
|
|
NM_000540.3(RYR1):c.7959G>A (p.Lys2653=)
|
|
|
NM_000540.3(RYR1):c.7969C>T (p.Leu2657=)
|
|
|
NM_000540.3(RYR1):c.7969_7970delinsA (p.Leu2657fs)
|
rs1555785090
|
|
NM_000540.3(RYR1):c.7980C>A (p.Gly2660=)
|
|
|
NM_000540.3(RYR1):c.7983G>A (p.Trp2661Ter)
|
|
|
NM_000540.3(RYR1):c.7989C>T (p.Asn2663=)
|
|
|
NM_000540.3(RYR1):c.7992C>G (p.Phe2664Leu)
|
rs150620191
|
|
NM_000540.3(RYR1):c.7995G>C (p.Gly2665=)
|
rs1555785096
|
|
NM_000540.3(RYR1):c.800+11G>A
|
|
|
NM_000540.3(RYR1):c.800+14G>C
|
|
|
NM_000540.3(RYR1):c.800+14del
|
|
|
NM_000540.3(RYR1):c.800+17G>T
|
|
|
NM_000540.3(RYR1):c.800+20G>C
|
|
|
NM_000540.3(RYR1):c.800+4G>A
|
rs774892189
|
|
NM_000540.3(RYR1):c.800+8G>A
|
|
|
NM_000540.3(RYR1):c.800+8G>C
|
rs1001494927
|
|
NM_000540.3(RYR1):c.8005G>A (p.Glu2669Lys)
|
rs2145626689
|
|
NM_000540.3(RYR1):c.801-10C>A
|
|
|
NM_000540.3(RYR1):c.801-10C>T
|
rs747996660
|
|
NM_000540.3(RYR1):c.801-12C>T
|
|
|
NM_000540.3(RYR1):c.801-4A>T
|
|
|
NM_000540.3(RYR1):c.801-5C>T
|
|
|
NM_000540.3(RYR1):c.801-6C>T
|
rs1252654593
|
|
NM_000540.3(RYR1):c.801-8C>T
|
|
|
NM_000540.3(RYR1):c.801-9C>G
|
|
|
NM_000540.3(RYR1):c.801-9C>T
|
|
|
NM_000540.3(RYR1):c.8010G>A (p.Glu2670=)
|
|
|
NM_000540.3(RYR1):c.8016G>A (p.Leu2672=)
|
|
|
NM_000540.3(RYR1):c.8018del (p.His2673fs)
|
rs1568509739
|
|
NM_000540.3(RYR1):c.8024C>A (p.Thr2675Lys)
|
rs1600843056
|
|
NM_000540.3(RYR1):c.8030A>C (p.Lys2677Thr)
|
|
|
NM_000540.3(RYR1):c.8031A>G (p.Lys2677=)
|
|
|
NM_000540.3(RYR1):c.8038T>A (p.Trp2680Arg)
|
rs1453234577
|
|
NM_000540.3(RYR1):c.8042G>A (p.Gly2681Asp)
|
|
|
NM_000540.3(RYR1):c.8042G>C (p.Gly2681Ala)
|
rs1970341837
|
|
NM_000540.3(RYR1):c.8044A>G (p.Ile2682Val)
|
|
|
NM_000540.3(RYR1):c.8045T>A (p.Ile2682Asn)
|
rs1387840141
|
|
NM_000540.3(RYR1):c.8046C>A (p.Ile2682=)
|
|
|
NM_000540.3(RYR1):c.8046_8064dup (p.Lys2689delinsLeuTer)
|
rs1970341946
|
|
NM_000540.3(RYR1):c.8049T>C (p.Phe2683=)
|
rs1555785118
|
|
NM_000540.3(RYR1):c.8052C>T (p.Asp2684=)
|
rs961505940
|
|
NM_000540.3(RYR1):c.8054C>T (p.Ser2685Phe)
|
rs781126470
|
|
NM_000540.3(RYR1):c.8059G>A (p.Ala2687Thr)
|
|
|
NM_000540.3(RYR1):c.8061C>T (p.Ala2687=)
|
|
|
NM_000540.3(RYR1):c.8067+10G>T
|
|
|
NM_000540.3(RYR1):c.8067+11C>T
|
|
|
NM_000540.3(RYR1):c.8067+13G>A
|
rs1057521480
|
|
NM_000540.3(RYR1):c.8067+16A>G
|
|
|
NM_000540.3(RYR1):c.8067+1G>A
|
|
|
NM_000540.3(RYR1):c.8067+1G>T
|
|
|
NM_000540.3(RYR1):c.8067+20C>G
|
|
|
NM_000540.3(RYR1):c.8067+20C>T
|
|
|
NM_000540.3(RYR1):c.8067+21del
|
|
|
NM_000540.3(RYR1):c.8068-10G>A
|
rs1555785219
|
|
NM_000540.3(RYR1):c.8068-20G>C
|
rs1224080746
|
|
NM_000540.3(RYR1):c.8068-29_8068-27del
|
rs796750554
|
|
NM_000540.3(RYR1):c.8068-4C>A
|
|
|
NM_000540.3(RYR1):c.8068-5C>A
|
|
|
NM_000540.3(RYR1):c.806G>A (p.Ser269Asn)
|
rs1256381592
|
|
NM_000540.3(RYR1):c.8071T>C (p.Tyr2691His)
|
rs1221624769
|
|
NM_000540.3(RYR1):c.8074G>A (p.Asp2692Asn)
|
rs201847439
|
|
NM_000540.3(RYR1):c.8079G>C (p.Pro2693=)
|
rs368063600
|
|
NM_000540.3(RYR1):c.8090G>T (p.Arg2697Leu)
|
|
|
NM_000540.3(RYR1):c.8098A>C (p.Met2700Leu)
|
rs1430660421
|
|
NM_000540.3(RYR1):c.8100G>A (p.Met2700Ile)
|
rs2145628771
|
|
NM_000540.3(RYR1):c.8104T>C (p.Cys2702Arg)
|
rs1568510244
|
|
NM_000540.3(RYR1):c.8118_8119inv (p.Ala2707Thr)
|
|
|
NM_000540.3(RYR1):c.8128C>T (p.Leu2710=)
|
rs1555785242
|
|
NM_000540.3(RYR1):c.8134C>G (p.Pro2712Ala)
|
rs267605464
|
|
NM_000540.3(RYR1):c.8136dup (p.Asp2713fs)
|
rs761483896
|
|
NM_000540.3(RYR1):c.8151C>T (p.Ala2717=)
|
|
|
NM_000540.3(RYR1):c.8155T>C (p.Tyr2719His)
|
rs200920798
|
|
NM_000540.3(RYR1):c.8156A>T (p.Tyr2719Phe)
|
rs1555785252
|
|
NM_000540.3(RYR1):c.8159C>A (p.Ser2720Ter)
|
rs1568510406
|
|
NM_000540.3(RYR1):c.8168C>G (p.Ala2723Gly)
|
rs1185074728
|
|
NM_000540.3(RYR1):c.816C>T (p.His272=)
|
|
|
NM_000540.3(RYR1):c.8188G>C (p.Asp2730His)
|
rs193922827
|
|
NM_000540.3(RYR1):c.8189A>G (p.Asp2730Gly)
|
rs112196644
|
|
NM_000540.3(RYR1):c.8189_8190delinsGC (p.Asp2730Gly)
|
|
|
NM_000540.3(RYR1):c.8190T>A (p.Asp2730Glu)
|
|
|
NM_000540.3(RYR1):c.8190_8191inv (p.Ala2731Thr)
|
|
|
NM_000540.3(RYR1):c.8191G>A (p.Ala2731Thr)
|
|
|
NM_000540.3(RYR1):c.8193T>C (p.Ala2731=)
|
|
|
NM_000540.3(RYR1):c.8196del (p.Gly2733fs)
|
rs1600844997
|
|
NM_000540.3(RYR1):c.8198G>A (p.Gly2733Asp)
|
rs193922828
|
|
NM_000540.3(RYR1):c.8198G>C (p.Gly2733Ala)
|
rs193922828
|
|
NM_000540.3(RYR1):c.8198G>T (p.Gly2733Val)
|
rs193922828
|
|
NM_000540.3(RYR1):c.819G>A (p.Leu273=)
|
|
|
NM_000540.3(RYR1):c.81G>A (p.Val27=)
|
rs2145320410
|
|
NM_000540.3(RYR1):c.8201A>G (p.Asn2734Ser)
|
|
|
NM_000540.3(RYR1):c.8211C>A (p.Pro2737=)
|
|
|
NM_000540.3(RYR1):c.821G>A (p.Arg274His)
|
rs368711923
|
|
NM_000540.3(RYR1):c.8223G>C (p.Glu2741Asp)
|
rs1970371040
|
|
NM_000540.3(RYR1):c.8227del (p.Leu2743fs)
|
|
|
NM_000540.3(RYR1):c.8229C>T (p.Leu2743=)
|
|
|
NM_000540.3(RYR1):c.8231+12G>A
|
|
|
NM_000540.3(RYR1):c.8231+13G>T
|
|
|
NM_000540.3(RYR1):c.8231+15C>G
|
|
|
NM_000540.3(RYR1):c.8231+18G>A
|
|
|
NM_000540.3(RYR1):c.8231+1G>A
|
rs869312737
|
|
NM_000540.3(RYR1):c.8231+20A>G
|
|
|
NM_000540.3(RYR1):c.8231+23_8231+26del
|
|
|
NM_000540.3(RYR1):c.8232-10C>T
|
rs1970375792
|
|
NM_000540.3(RYR1):c.8232-13G>A
|
|
|
NM_000540.3(RYR1):c.8232-13G>C
|
|
|
NM_000540.3(RYR1):c.8232-15C>T
|
rs1317633772
|
|
NM_000540.3(RYR1):c.8232-16C>T
|
|
|
NM_000540.3(RYR1):c.8232-1G>A
|
|
|
NM_000540.3(RYR1):c.8232-4A>G
|
|
|
NM_000540.3(RYR1):c.8232-4A>T
|
|
|
NM_000540.3(RYR1):c.8232-5A>C
|
|
|
NM_000540.3(RYR1):c.8232-6C>T
|
|
|
NM_000540.3(RYR1):c.8238C>T (p.Ile2746=)
|
rs2145630003
|
|
NM_000540.3(RYR1):c.8239A>C (p.Ile2747Leu)
|
|
|
NM_000540.3(RYR1):c.823T>C (p.Trp275Arg)
|
|
|
NM_000540.3(RYR1):c.823T>G (p.Trp275Gly)
|
|
|
NM_000540.3(RYR1):c.8244G>A (p.Pro2748=)
|
|
|
NM_000540.3(RYR1):c.8251C>T (p.Leu2751=)
|
|
|
NM_000540.3(RYR1):c.8259C>A (p.Ser2753=)
|
|
|
NM_000540.3(RYR1):c.8265T>G (p.Ile2755Met)
|
|
|
NM_000540.3(RYR1):c.8276C>T (p.Ala2759Val)
|
|
|
NM_000540.3(RYR1):c.8283C>T (p.Tyr2761=)
|
|
|
NM_000540.3(RYR1):c.8286A>C (p.Thr2762=)
|
rs1555785322
|
|
NM_000540.3(RYR1):c.828C>A (p.Gly276=)
|
|
|
NM_000540.3(RYR1):c.8295G>A (p.Lys2765=)
|
|
|
NM_000540.3(RYR1):c.8297G>T (p.Trp2766Leu)
|
rs1970379492
|
|
NM_000540.3(RYR1):c.8298G>C (p.Trp2766Cys)
|
|
|
NM_000540.3(RYR1):c.8304C>T (p.Phe2768=)
|
|
|
NM_000540.3(RYR1):c.8305G>C (p.Asp2769His)
|
|
|
NM_000540.3(RYR1):c.8307C>T (p.Asp2769=)
|
|
|
NM_000540.3(RYR1):c.8310+15C>T
|
|
|
NM_000540.3(RYR1):c.8310+7C>T
|
|
|
NM_000540.3(RYR1):c.8310+9C>T
|
|
|
NM_000540.3(RYR1):c.831G>C (p.Gln277His)
|
rs34004552
|
|
NM_000540.3(RYR1):c.843C>T (p.Val281=)
|
|
|
NM_000540.3(RYR1):c.848A>G (p.His283Arg)
|
|
|
NM_000540.3(RYR1):c.852C>A (p.Val284=)
|
|
|
NM_000540.3(RYR1):c.852C>T (p.Val284=)
|
|
|
NM_000540.3(RYR1):c.858C>T (p.Thr286=)
|
|
|
NM_000540.3(RYR1):c.859G>A (p.Gly287Arg)
|
rs201292282
|
|
NM_000540.3(RYR1):c.8616+15C>T
|
|
|
NM_000540.3(RYR1):c.8616+18T>C
|
rs201401795
|
|
NM_000540.3(RYR1):c.8616+20T>C
|
|
|
NM_000540.3(RYR1):c.8616+20dup
|
|
|
NM_000540.3(RYR1):c.8616+43G>C
|
rs74481153
|
|
NM_000540.3(RYR1):c.8617-12A>G
|
rs2145636487
|
|
NM_000540.3(RYR1):c.8617-18C>T
|
|
|
NM_000540.3(RYR1):c.8617-19A>C
|
|
|
NM_000540.3(RYR1):c.8617-2A>G
|
|
|
NM_000540.3(RYR1):c.8617-4C>T
|
|
|
NM_000540.3(RYR1):c.8617-9C>T
|
rs1301726045
|
|
NM_000540.3(RYR1):c.8619C>T (p.Ala2873=)
|
rs2145636544
|
|
NM_000540.3(RYR1):c.8631A>G (p.Gln2877=)
|
|
|
NM_000540.3(RYR1):c.8643T>C (p.Asn2881=)
|
|
|
NM_000540.3(RYR1):c.8654C>G (p.Thr2885Arg)
|
rs1159304367
|
|
NM_000540.3(RYR1):c.8654C>T (p.Thr2885Met)
|
|
|
NM_000540.3(RYR1):c.8655G>A (p.Thr2885=)
|
rs1970457923
|
|
NM_000540.3(RYR1):c.8655G>C (p.Thr2885=)
|
|
|
NM_000540.3(RYR1):c.8662C>T (p.Arg2888Trp)
|
rs1234488220
|
|
NM_000540.3(RYR1):c.8663G>A (p.Arg2888Gln)
|
|
|
NM_000540.3(RYR1):c.8667dup (p.Lys2890fs)
|
rs1555785771
|
|
NM_000540.3(RYR1):c.8673G>A (p.Lys2891=)
|
|
|
NM_000540.3(RYR1):c.8675A>G (p.Gln2892Arg)
|
rs573517646
|
|
NM_000540.3(RYR1):c.867C>A (p.Tyr289Ter)
|
rs1966900746
|
|
NM_000540.3(RYR1):c.868C>T (p.Leu290=)
|
|
|
NM_000540.3(RYR1):c.8692+11C>T
|
|
|
NM_000540.3(RYR1):c.8692+12C>T
|
|
|
NM_000540.3(RYR1):c.8692+131G>A
|
rs1970466822
|
|
NM_000540.3(RYR1):c.8692+13A>G
|
|
|
NM_000540.3(RYR1):c.8692+18G>A
|
|
|
NM_000540.3(RYR1):c.8692+1G>T
|
rs1057523844
|
|
NM_000540.3(RYR1):c.8692+22_8692+34del
|
|
|
NM_000540.3(RYR1):c.8692+7G>A
|
|
|
NM_000540.3(RYR1):c.8692+7dup
|
|
|
NM_000540.3(RYR1):c.8692+8C>T
|
|
|
NM_000540.3(RYR1):c.8692+9G>A
|
rs1970459734
|
|
NM_000540.3(RYR1):c.8693-103_8693-102insATC
|
rs35973146
|
|
NM_000540.3(RYR1):c.8693-11dup
|
|
|
NM_000540.3(RYR1):c.8693-1G>A
|
rs1568514017
|
|
NM_000540.3(RYR1):c.8693-4C>G
|
|
|
NM_000540.3(RYR1):c.8693-76del
|
rs528782286
|
|
NM_000540.3(RYR1):c.8709C>G (p.Pro2903=)
|
|
|
NM_000540.3(RYR1):c.8712G>A (p.Leu2904=)
|
rs772766400
|
|
NM_000540.3(RYR1):c.8715_8716delinsAA (p.Val2906Ile)
|
rs2145638236
|
|
NM_000540.3(RYR1):c.8716G>A (p.Val2906Ile)
|
|
|
NM_000540.3(RYR1):c.8721del (p.Tyr2908fs)
|
|
|
NM_000540.3(RYR1):c.8724C>A (p.Tyr2908Ter)
|
rs797045935
|
|
NM_000540.3(RYR1):c.8725G>A (p.Asp2909Asn)
|
|
|
NM_000540.3(RYR1):c.8726A>C (p.Asp2909Ala)
|
rs2145638301
|
|
NM_000540.3(RYR1):c.8729C>T (p.Thr2910Met)
|
rs1291499059
|
|
NM_000540.3(RYR1):c.8733C>T (p.Leu2911=)
|
rs200427576
|
|
NM_000540.3(RYR1):c.8735C>G (p.Thr2912Arg)
|
|
|
NM_000540.3(RYR1):c.8735C>T (p.Thr2912Met)
|
rs1970478618
|
|
NM_000540.3(RYR1):c.8736G>C (p.Thr2912=)
|
|
|
NM_000540.3(RYR1):c.873G>T (p.Ala291=)
|
rs2229140
|
|
NM_000540.3(RYR1):c.8742G>A (p.Lys2914=)
|
|
|
NM_000540.3(RYR1):c.8743G>A (p.Glu2915Lys)
|
rs1970479129
|
|
NM_000540.3(RYR1):c.8744A>C (p.Glu2915Ala)
|
rs1970479233
|
|
NM_000540.3(RYR1):c.8746A>T (p.Lys2916Ter)
|
|
|
NM_000540.3(RYR1):c.8748G>C (p.Lys2916Asn)
|
|
|
NM_000540.3(RYR1):c.874C>T (p.Leu292Phe)
|
rs1966901541
|
|
NM_000540.3(RYR1):c.8758C>T (p.Arg2920Ter)
|
|
|
NM_000540.3(RYR1):c.8763G>A (p.Glu2921=)
|
|
|
NM_000540.3(RYR1):c.8767G>A (p.Ala2923Thr)
|
|
|
NM_000540.3(RYR1):c.8770C>T (p.Gln2924Ter)
|
|
|
NM_000540.3(RYR1):c.8772G>A (p.Gln2924=)
|
|
|
NM_000540.3(RYR1):c.8773G>A (p.Glu2925Lys)
|
rs2145638522
|
|
NM_000540.3(RYR1):c.8773G>T (p.Glu2925Ter)
|
rs2145638522
|
|
NM_000540.3(RYR1):c.8779C>T (p.Leu2927=)
|
|
|
NM_000540.3(RYR1):c.8790G>T (p.Leu2930=)
|
rs2145638568
|
|
NM_000540.3(RYR1):c.8806G>A (p.Ala2936Thr)
|
|
|
NM_000540.3(RYR1):c.8808G>C (p.Ala2936=)
|
|
|
NM_000540.3(RYR1):c.8808G>T (p.Ala2936=)
|
|
|
NM_000540.3(RYR1):c.8809G>A (p.Val2937Ile)
|
|
|
NM_000540.3(RYR1):c.8812dup (p.Thr2938fs)
|
rs1555785906
|
|
NM_000540.3(RYR1):c.8814A>C (p.Thr2938=)
|
|
|
NM_000540.3(RYR1):c.8816+17_8816+18del
|
|
|
NM_000540.3(RYR1):c.8816+19C>A
|
|
|
NM_000540.3(RYR1):c.8816+20C>G
|
|
|
NM_000540.3(RYR1):c.8816+20C>T
|
|
|
NM_000540.3(RYR1):c.8816+220AG[2]
|
rs369587705
|
|
NM_000540.3(RYR1):c.8816+3A>G
|
|
|
NM_000540.3(RYR1):c.8816+5_8816+6delinsAT
|
|
|
NM_000540.3(RYR1):c.8816+6C>T
|
|
|
NM_000540.3(RYR1):c.8816+7G>T
|
|
|
NM_000540.3(RYR1):c.8816+8G>A
|
|
|
NM_000540.3(RYR1):c.8816G>A (p.Arg2939Lys)
|
rs118192125
|
|
NM_000540.3(RYR1):c.8817-12A>G
|
|
|
NM_000540.3(RYR1):c.8817-13C>T
|
|
|
NM_000540.3(RYR1):c.8817-16C>T
|
|
|
NM_000540.3(RYR1):c.8817-3C>A
|
rs1356588584
|
|
NM_000540.3(RYR1):c.8817-7C>T
|
rs748541593
|
|
NM_000540.3(RYR1):c.8820C>A (p.Gly2940=)
|
|
|
NM_000540.3(RYR1):c.8820C>T (p.Gly2940=)
|
|
|
NM_000540.3(RYR1):c.8831T>C (p.Met2944Thr)
|
rs1555786188
|
|
NM_000540.3(RYR1):c.8843C>G (p.Ser2948Trp)
|
rs759514075
|
|
NM_000540.3(RYR1):c.8844G>A (p.Ser2948=)
|
|
|
NM_000540.3(RYR1):c.884_889del (p.Asp295_Gln296del)
|
|
|
NM_000540.3(RYR1):c.8850C>T (p.Ser2950=)
|
|
|
NM_000540.3(RYR1):c.8859G>A (p.Lys2953=)
|
|
|
NM_000540.3(RYR1):c.8868C>T (p.Ala2956=)
|
|
|
NM_000540.3(RYR1):c.8871T>C (p.Phe2957=)
|
|
|
NM_000540.3(RYR1):c.887A>G (p.Gln296Arg)
|
|
|
NM_000540.3(RYR1):c.8883G>A (p.Gln2961=)
|
rs1600856689
|
|
NM_000540.3(RYR1):c.8894G>A (p.Arg2965His)
|
rs2145643659
|
|
NM_000540.3(RYR1):c.8901G>A (p.Met2967Ile)
|
rs1970544424
|
|
NM_000540.3(RYR1):c.890G>T (p.Gly297Val)
|
|
|
NM_000540.3(RYR1):c.8916G>A (p.Glu2972=)
|
rs1600856834
|
|
NM_000540.3(RYR1):c.891C>T (p.Gly297=)
|
|
|
NM_000540.3(RYR1):c.8920A>G (p.Ile2974Val)
|
rs1010807883
|
|
NM_000540.3(RYR1):c.8922dup (p.Ala2975fs)
|
rs2145643810
|
|
NM_000540.3(RYR1):c.8925C>T (p.Ala2975=)
|
rs1970545784
|
|
NM_000540.3(RYR1):c.8926C>T (p.His2976Tyr)
|
rs2145643832
|
|
NM_000540.3(RYR1):c.8929_8932+4delinsAAGCGG
|
rs1555786205
|
|
NM_000540.3(RYR1):c.8932+100_8932+110del
|
rs67918215
|
|
NM_000540.3(RYR1):c.8932+14C>A
|
|
|
NM_000540.3(RYR1):c.8932+16C>A
|
|
|
NM_000540.3(RYR1):c.8932+16C>T
|
|
|
NM_000540.3(RYR1):c.8932+17C>A
|
|
|
NM_000540.3(RYR1):c.8932+19C>T
|
|
|
NM_000540.3(RYR1):c.8932+19del
|
|
|
NM_000540.3(RYR1):c.8932+19dup
|
|
|
NM_000540.3(RYR1):c.8932+20G>A
|
|
|
NM_000540.3(RYR1):c.8932+34dup
|
rs5828009
|
|
NM_000540.3(RYR1):c.8932+4C>T
|
|
|
NM_000540.3(RYR1):c.8933-11C>T
|
|
|
NM_000540.3(RYR1):c.8933-17A>G
|
|
|
NM_000540.3(RYR1):c.8933-20C>A
|
rs753200114
|
|
NM_000540.3(RYR1):c.8935_8945del (p.Ala2979fs)
|
|
|
NM_000540.3(RYR1):c.8940G>T (p.Val2980=)
|
|
|
NM_000540.3(RYR1):c.8943C>G (p.Val2981=)
|
|
|
NM_000540.3(RYR1):c.8946C>T (p.Ser2982=)
|
rs1600865258
|
|
NM_000540.3(RYR1):c.8951G>A (p.Gly2984Glu)
|
rs781308894
|
|
NM_000540.3(RYR1):c.8952G>A (p.Gly2984=)
|
rs746118487
|
|
NM_000540.3(RYR1):c.8953C>T (p.Arg2985Ter)
|
|
|
NM_000540.3(RYR1):c.8954G>A (p.Arg2985Gln)
|
rs769814020
|
|
NM_000540.3(RYR1):c.8958G>A (p.Val2986=)
|
|
|
NM_000540.3(RYR1):c.8969C>A (p.Pro2990Gln)
|
|
|
NM_000540.3(RYR1):c.8969C>G (p.Pro2990Arg)
|
|
|
NM_000540.3(RYR1):c.8969C>T (p.Pro2990Leu)
|
rs768538971
|
|
NM_000540.3(RYR1):c.8973T>C (p.His2991=)
|
rs2145655096
|
|
NM_000540.3(RYR1):c.8977C>A (p.Gln2993Lys)
|
|
|
NM_000540.3(RYR1):c.8978A>G (p.Gln2993Arg)
|
rs1568519044
|
|
NM_000540.3(RYR1):c.897G>A (p.Val299=)
|
rs76854339
|
|
NM_000540.3(RYR1):c.897G>C (p.Val299=)
|
rs76854339
|
|
NM_000540.3(RYR1):c.897G>T (p.Val299=)
|
|
|
NM_000540.3(RYR1):c.8988A>G (p.Lys2996=)
|
rs2145655152
|
|
NM_000540.3(RYR1):c.8996C>T (p.Ala2999Val)
|
rs374272827
|
|
NM_000540.3(RYR1):c.9000+1G>A
|
rs111364670
|
|
NM_000540.3(RYR1):c.9000+1G>T
|
rs111364670
|
|
NM_000540.3(RYR1):c.9000+25_9000+34del
|
|
|
NM_000540.3(RYR1):c.9000+3G>A
|
|
|
NM_000540.3(RYR1):c.9001-14dup
|
|
|
NM_000540.3(RYR1):c.9001-15C>A
|
rs372702492
|
|
NM_000540.3(RYR1):c.9001-15C>G
|
|
|
NM_000540.3(RYR1):c.9001-2A>G
|
rs774119942
|
|
NM_000540.3(RYR1):c.9001-6C>T
|
|
|
NM_000540.3(RYR1):c.9001-9C>G
|
|
|
NM_000540.3(RYR1):c.9001-9C>T
|
rs1480544989
|
|
NM_000540.3(RYR1):c.9006G>A (p.Leu3002=)
|
|
|
NM_000540.3(RYR1):c.9006G>C (p.Leu3002=)
|
rs1422726213
|
|
NM_000540.3(RYR1):c.9007C>G (p.Leu3003Val)
|
rs1970687243
|
|
NM_000540.3(RYR1):c.9007C>T (p.Leu3003Phe)
|
rs1970687243
|
|
NM_000540.3(RYR1):c.9013T>A (p.Leu3005Met)
|
rs1568519242
|
|
NM_000540.3(RYR1):c.9014T>C (p.Leu3005Ser)
|
|
|
NM_000540.3(RYR1):c.901G>C (p.Val301Leu)
|
|
|
NM_000540.3(RYR1):c.9028T>G (p.Phe3010Val)
|
|
|
NM_000540.3(RYR1):c.9030C>T (p.Phe3010=)
|
|
|
NM_000540.3(RYR1):c.9034A>G (p.Asn3012Asp)
|
|
|
NM_000540.3(RYR1):c.9039C>T (p.His3013=)
|
|
|
NM_000540.3(RYR1):c.9047A>G (p.Tyr3016Cys)
|
rs1555786853
|
|
NM_000540.3(RYR1):c.904G>T (p.Asp302Tyr)
|
|
|
NM_000540.3(RYR1):c.9052T>C (p.Leu3018=)
|
|
|
NM_000540.3(RYR1):c.9057C>T (p.Ser3019=)
|
|
|
NM_000540.3(RYR1):c.9058A>T (p.Thr3020Ser)
|
|
|
NM_000540.3(RYR1):c.905A>T (p.Asp302Val)
|
rs1966903034
|
|
NM_000540.3(RYR1):c.9061C>T (p.Pro3021Ser)
|
|
|
NM_000540.3(RYR1):c.9071T>C (p.Val3024Ala)
|
rs1568519356
|
|
NM_000540.3(RYR1):c.9075G>A (p.Leu3025=)
|
rs764833595
|
|
NM_000540.3(RYR1):c.9077_9086del (p.Gly3026fs)
|
|
|
NM_000540.3(RYR1):c.9087C>T (p.Gly3029=)
|
|
|
NM_000540.3(RYR1):c.9102G>A (p.Lys3034=)
|
|
|
NM_000540.3(RYR1):c.9103G>C (p.Glu3035Gln)
|
rs1053579438
|
|
NM_000540.3(RYR1):c.910A>G (p.Ser304Gly)
|
|
|
NM_000540.3(RYR1):c.9121_9122delinsCA (p.Ser3041His)
|
rs2145656051
|
|
NM_000540.3(RYR1):c.9122+11T>C
|
|
|
NM_000540.3(RYR1):c.9122+15A>G
|
|
|
NM_000540.3(RYR1):c.9122+18del
|
|
|
NM_000540.3(RYR1):c.9122+283G>T
|
rs142259840
|
|
NM_000540.3(RYR1):c.9122+7C>A
|
|
|
NM_000540.3(RYR1):c.9122+9C>A
|
|
|
NM_000540.3(RYR1):c.9123-12C>G
|
|
|
NM_000540.3(RYR1):c.9123-14T>G
|
rs2145659049
|
|
NM_000540.3(RYR1):c.9123-16C>T
|
|
|
NM_000540.3(RYR1):c.9123-20G>A
|
|
|
NM_000540.3(RYR1):c.9123-6C>T
|
|
|
NM_000540.3(RYR1):c.9123-7del
|
|
|
NM_000540.3(RYR1):c.9126C>G (p.Leu3042=)
|
|
|
NM_000540.3(RYR1):c.9129C>T (p.Phe3043=)
|
|
|
NM_000540.3(RYR1):c.9130T>C (p.Cys3044Arg)
|
rs1970727401
|
|
NM_000540.3(RYR1):c.9131G>A (p.Cys3044Tyr)
|
|
|
NM_000540.3(RYR1):c.9138T>G (p.Leu3046=)
|
|
|
NM_000540.3(RYR1):c.9151C>T (p.Arg3051Cys)
|
|
|
NM_000540.3(RYR1):c.9153C>T (p.Arg3051=)
|
|
|
NM_000540.3(RYR1):c.9155A>G (p.His3052Arg)
|
rs1171211801
|
|
NM_000540.3(RYR1):c.9158G>A (p.Arg3053Gln)
|
|
|
NM_000540.3(RYR1):c.9168_9169del (p.Phe3057fs)
|
rs1555787058
|
|
NM_000540.3(RYR1):c.9170_9171del (p.Phe3057fs)
|
|
|
NM_000540.3(RYR1):c.9172+14C>T
|
|
|
NM_000540.3(RYR1):c.9172+20C>T
|
|
|
NM_000540.3(RYR1):c.9173-17C>G
|
|
|
NM_000540.3(RYR1):c.9173-20G>A
|
|
|
NM_000540.3(RYR1):c.9173-5C>T
|
rs527599800
|
|
NM_000540.3(RYR1):c.9173-7C>T
|
|
|
NM_000540.3(RYR1):c.9176C>T (p.Thr3059Ile)
|
rs1194961735
|
|
NM_000540.3(RYR1):c.9183C>T (p.Ala3061=)
|
|
|
NM_000540.3(RYR1):c.9185C>T (p.Pro3062Leu)
|
|
|
NM_000540.3(RYR1):c.9204T>C (p.Leu3068=)
|
rs751755480
|
|
NM_000540.3(RYR1):c.9215C>T (p.Ala3072Val)
|
|
|
NM_000540.3(RYR1):c.9216C>A (p.Ala3072=)
|
rs1361441570
|
|
NM_000540.3(RYR1):c.9217C>T (p.Arg3073Cys)
|
|
|
NM_000540.3(RYR1):c.921C>T (p.His307=)
|
|
|
NM_000540.3(RYR1):c.9221C>T (p.Ser3074Phe)
|
|
|
NM_000540.3(RYR1):c.9233+10T>A
|
|
|
NM_000540.3(RYR1):c.9233+12G>A
|
|
|
NM_000540.3(RYR1):c.9233+15A>C
|
|
|
NM_000540.3(RYR1):c.9233+20C>T
|
|
|
NM_000540.3(RYR1):c.9233+3A>G
|
rs1555787274
|
|
NM_000540.3(RYR1):c.9233+6del
|
rs757394018
|
|
NM_000540.3(RYR1):c.9233+8C>T
|
rs2145661847
|
|
NM_000540.3(RYR1):c.9234-11T>C
|
|
|
NM_000540.3(RYR1):c.9234-15C>A
|
rs2145662374
|
|
NM_000540.3(RYR1):c.9234-1G>C
|
|
|
NM_000540.3(RYR1):c.9234G>T (p.Arg3078Ser)
|
rs760538610
|
|
NM_000540.3(RYR1):c.9250G>A (p.Gly3084Ser)
|
|
|
NM_000540.3(RYR1):c.9252C>T (p.Gly3084=)
|
|
|
NM_000540.3(RYR1):c.9257A>T (p.Glu3086Val)
|
|
|
NM_000540.3(RYR1):c.9261C>A (p.Ile3087=)
|
|
|
NM_000540.3(RYR1):c.9262G>C (p.Val3088Leu)
|
rs145044872
|
|
NM_000540.3(RYR1):c.9262G>T (p.Val3088Leu)
|
rs145044872
|
|
NM_000540.3(RYR1):c.9268G>A (p.Ala3090Thr)
|
rs2145662576
|
|
NM_000540.3(RYR1):c.9272G>C (p.Gly3091Ala)
|
rs1555787328
|
|
NM_000540.3(RYR1):c.9273C>T (p.Gly3091=)
|
rs1600871563
|
|
NM_000540.3(RYR1):c.9277C>T (p.Arg3093Cys)
|
rs1064797039
|
|
NM_000540.3(RYR1):c.9281C>T (p.Ser3094Phe)
|
rs2145662654
|
|
NM_000540.3(RYR1):c.9283T>C (p.Phe3095Leu)
|
|
|
NM_000540.3(RYR1):c.9285C>T (p.Phe3095=)
|
|
|
NM_000540.3(RYR1):c.9289G>A (p.Glu3097Lys)
|
|
|
NM_000540.3(RYR1):c.9291G>A (p.Glu3097=)
|
|
|
NM_000540.3(RYR1):c.9293G>T (p.Ser3098Ile)
|
|
|
NM_000540.3(RYR1):c.9299C>T (p.Ser3100Leu)
|
|
|
NM_000540.3(RYR1):c.9300G>C (p.Ser3100=)
|
|
|
NM_000540.3(RYR1):c.9307A>G (p.Ile3103Val)
|
|
|
NM_000540.3(RYR1):c.9309C>T (p.Ile3103=)
|
rs773236495
|
|
NM_000540.3(RYR1):c.930T>C (p.Ala310=)
|
|
|
NM_000540.3(RYR1):c.9310G>A (p.Glu3104Lys)
|
rs193922832
|
|
NM_000540.3(RYR1):c.9325A>G (p.Asn3109Asp)
|
|
|
NM_000540.3(RYR1):c.932C>A (p.Thr311Asn)
|
rs1966904561
|
|
NM_000540.3(RYR1):c.9331C>A (p.Arg3111=)
|
rs1970767603
|
|
NM_000540.3(RYR1):c.9333G>A (p.Arg3111=)
|
|
|
NM_000540.3(RYR1):c.9333G>C (p.Arg3111=)
|
rs765039553
|
|
NM_000540.3(RYR1):c.9336G>A (p.Leu3112=)
|
|
|
NM_000540.3(RYR1):c.933C>A (p.Thr311=)
|
|
|
NM_000540.3(RYR1):c.933C>T (p.Thr311=)
|
rs1292560494
|
|
NM_000540.3(RYR1):c.9340A>C (p.Lys3114Gln)
|
|
|
NM_000540.3(RYR1):c.9345del (p.Ser3116fs)
|
rs2145663047
|
|
NM_000540.3(RYR1):c.9348G>T (p.Ser3116=)
|
|
|
NM_000540.3(RYR1):c.934T>C (p.Ser312Pro)
|
|
|
NM_000540.3(RYR1):c.9351G>A (p.Gln3117=)
|
|
|
NM_000540.3(RYR1):c.9356G>A (p.Arg3119His)
|
rs193922833
|
|
NM_000540.3(RYR1):c.9356G>T (p.Arg3119Leu)
|
rs193922833
|
|
NM_000540.3(RYR1):c.9363G>A (p.Gln3121=)
|
rs2145663209
|
|
NM_000540.3(RYR1):c.936C>T (p.Ser312=)
|
|
|
NM_000540.3(RYR1):c.9372C>A (p.Gly3124=)
|
|
|
NM_000540.3(RYR1):c.9373G>A (p.Val3125Met)
|
|
|
NM_000540.3(RYR1):c.9376G>C (p.Gly3126Arg)
|
|
|
NM_000540.3(RYR1):c.9379C>T (p.Gln3127Ter)
|
|
|
NM_000540.3(RYR1):c.937T>G (p.Phe313Val)
|
rs1966905126
|
|
NM_000540.3(RYR1):c.938_940del (p.Phe313del)
|
rs2145360371
|
|
NM_000540.3(RYR1):c.9391T>C (p.Tyr3131His)
|
|
|
NM_000540.3(RYR1):c.9392A>G (p.Tyr3131Cys)
|
rs776504924
|
|
NM_000540.3(RYR1):c.9393C>T (p.Tyr3131=)
|
rs753354701
|
|
NM_000540.3(RYR1):c.9394A>G (p.Thr3132Ala)
|
|
|
NM_000540.3(RYR1):c.939C>T (p.Phe313=)
|
|
|
NM_000540.3(RYR1):c.93G>A (p.Gln31=)
|
|
|
NM_000540.3(RYR1):c.9412C>A (p.Pro3138Thr)
|
rs2145663479
|
|
NM_000540.3(RYR1):c.9416T>C (p.Val3139Ala)
|
|
|
NM_000540.3(RYR1):c.9420C>T (p.Leu3140=)
|
|
|
NM_000540.3(RYR1):c.9429C>T (p.Leu3143=)
|
|
|
NM_000540.3(RYR1):c.9436C>T (p.His3146Tyr)
|
rs2145663617
|
|
NM_000540.3(RYR1):c.9446A>G (p.Gln3149Arg)
|
|
|
NM_000540.3(RYR1):c.9447G>A (p.Gln3149=)
|
|
|
NM_000540.3(RYR1):c.9450C>T (p.His3150=)
|
rs1600872610
|
|
NM_000540.3(RYR1):c.9462T>C (p.Asp3154=)
|
rs748514443
|
|
NM_000540.3(RYR1):c.9469A>T (p.Ile3157Phe)
|
rs1374173406
|
|
NM_000540.3(RYR1):c.9472+20G>A
|
|
|
NM_000540.3(RYR1):c.9472+9G>C
|
rs1392237616
|
|
NM_000540.3(RYR1):c.9473-11G>A
|
|
|
NM_000540.3(RYR1):c.9473-11G>C
|
|
|
NM_000540.3(RYR1):c.9473-127A>G
|
rs114618055
|
|
NM_000540.3(RYR1):c.9473-12T>C
|
|
|
NM_000540.3(RYR1):c.9473-13C>A
|
|
|
NM_000540.3(RYR1):c.9473-13_9473-12del
|
|
|
NM_000540.3(RYR1):c.9473-15C>G
|
|
|
NM_000540.3(RYR1):c.9473-16C>A
|
|
|
NM_000540.3(RYR1):c.9473-17C>A
|
|
|
NM_000540.3(RYR1):c.9473-17C>T
|
|
|
NM_000540.3(RYR1):c.9473-19C>G
|
|
|
NM_000540.3(RYR1):c.9473-19C>T
|
|
|
NM_000540.3(RYR1):c.9473-2A>G
|
|
|
NM_000540.3(RYR1):c.9473-3C>T
|
|
|
NM_000540.3(RYR1):c.9473-5C>T
|
rs2145672933
|
|
NM_000540.3(RYR1):c.9473-6C>T
|
|
|
NM_000540.3(RYR1):c.9473-7C>G
|
|
|
NM_000540.3(RYR1):c.9473-9C>G
|
|
|
NM_000540.3(RYR1):c.9476A>G (p.Asp3159Gly)
|
rs879074444
|
|
NM_000540.3(RYR1):c.947G>A (p.Arg316His)
|
rs193922761
|
|
NM_000540.3(RYR1):c.9486G>C (p.Gln3162His)
|
rs1568524894
|
|
NM_000540.3(RYR1):c.9492T>G (p.Ser3164=)
|
|
|
NM_000540.3(RYR1):c.9499C>T (p.Arg3167Ter)
|
rs1171637302
|
|
NM_000540.3(RYR1):c.949A>G (p.Ile317Val)
|
rs763765599
|
|
NM_000540.3(RYR1):c.9504G>T (p.Thr3168=)
|
|
|
NM_000540.3(RYR1):c.9513T>C (p.Ser3171=)
|
rs1568524980
|
|
NM_000540.3(RYR1):c.9514A>G (p.Ile3172Val)
|
|
|
NM_000540.3(RYR1):c.9519C>T (p.Tyr3173=)
|
|
|
NM_000540.3(RYR1):c.9521C>T (p.Ser3174Phe)
|
rs1600880972
|
|
NM_000540.3(RYR1):c.9523C>T (p.Leu3175=)
|
rs528199298
|
|
NM_000540.3(RYR1):c.9534C>G (p.Thr3178=)
|
|
|
NM_000540.3(RYR1):c.9537G>C (p.Lys3179Asn)
|
rs2145673238
|
|
NM_000540.3(RYR1):c.953C>G (p.Ser318Cys)
|
|
|
NM_000540.3(RYR1):c.9543T>A (p.Thr3181=)
|
|
|
NM_000540.3(RYR1):c.9545dup (p.Tyr3182Ter)
|
rs1970899870
|
|
NM_000540.3(RYR1):c.9550G>A (p.Glu3184Lys)
|
|
|
NM_000540.3(RYR1):c.9552A>G (p.Glu3184=)
|
|
|
NM_000540.3(RYR1):c.9554+13A>G
|
|
|
NM_000540.3(RYR1):c.9554+14del
|
|
|
NM_000540.3(RYR1):c.9554+15C>A
|
|
|
NM_000540.3(RYR1):c.9554+18T>C
|
|
|
NM_000540.3(RYR1):c.9554+190G>T
|
rs2915942
|
|
NM_000540.3(RYR1):c.9554+19C>T
|
|
|
NM_000540.3(RYR1):c.9554+3A>C
|
rs2145673303
|
|
NM_000540.3(RYR1):c.9554dup (p.Leu3186fs)
|
rs1970900298
|
|
NM_000540.3(RYR1):c.9555-11C>T
|
|
|
NM_000540.3(RYR1):c.9555-16C>T
|
|
|
NM_000540.3(RYR1):c.9555-298del
|
rs372977083
|
|
NM_000540.3(RYR1):c.9555-5del
|
|
|
NM_000540.3(RYR1):c.9556C>T (p.Leu3186Phe)
|
|
|
NM_000540.3(RYR1):c.9560G>T (p.Arg3187Leu)
|
rs1171145743
|
|
NM_000540.3(RYR1):c.9561G>T (p.Arg3187=)
|
|
|
NM_000540.3(RYR1):c.9563C>G (p.Pro3188Arg)
|
|
|
NM_000540.3(RYR1):c.957+18C>T
|
|
|
NM_000540.3(RYR1):c.957+5_957+29del
|
rs794726982
|
|
NM_000540.3(RYR1):c.957+7G>A
|
|
|
NM_000540.3(RYR1):c.957+9G>A
|
|
|
NM_000540.3(RYR1):c.957+9G>T
|
rs781002591
|
|
NM_000540.3(RYR1):c.9570C>A (p.Leu3190=)
|
|
|
NM_000540.3(RYR1):c.9573G>A (p.Gly3191=)
|
|
|
NM_000540.3(RYR1):c.9573G>T (p.Gly3191=)
|
|
|
NM_000540.3(RYR1):c.9579C>T (p.Cys3193=)
|
rs587784379
|
|
NM_000540.3(RYR1):c.957G>A (p.Lys319=)
|
|
|
NM_000540.3(RYR1):c.958-10G>T
|
|
|
NM_000540.3(RYR1):c.958-12C>T
|
|
|
NM_000540.3(RYR1):c.958-14C>G
|
|
|
NM_000540.3(RYR1):c.958-17_958-16del
|
rs748533890
|
|
NM_000540.3(RYR1):c.958-18T>C
|
|
|
NM_000540.3(RYR1):c.958-2A>G
|
|
|
NM_000540.3(RYR1):c.958-5T>C
|
|
|
NM_000540.3(RYR1):c.958-5T>G
|
|
|
NM_000540.3(RYR1):c.958-7C>T
|
rs775586353
|
|
NM_000540.3(RYR1):c.958-9C>T
|
|
|
NM_000540.3(RYR1):c.9580C>T (p.Leu3194=)
|
|
|
NM_000540.3(RYR1):c.9581T>C (p.Leu3194Pro)
|
rs1970955432
|
|
NM_000540.3(RYR1):c.9582G>A (p.Leu3194=)
|
|
|
NM_000540.3(RYR1):c.9585C>T (p.Ala3195=)
|
rs1970955862
|
|
NM_000540.3(RYR1):c.958G>A (p.Glu320Lys)
|
rs1568440962
|
|
NM_000540.3(RYR1):c.9600C>A (p.Ala3200=)
|
|
|
NM_000540.3(RYR1):c.9600C>T (p.Ala3200=)
|
|
|
NM_000540.3(RYR1):c.9601A>G (p.Met3201Val)
|
rs2145677135
|
|
NM_000540.3(RYR1):c.9603G>A (p.Met3201Ile)
|
rs373611044
|
|
NM_000540.3(RYR1):c.9603G>C (p.Met3201Ile)
|
rs373611044
|
|
NM_000540.3(RYR1):c.9607G>A (p.Val3203Met)
|
|
|
NM_000540.3(RYR1):c.960G>A (p.Glu320=)
|
rs1600656609
|
|
NM_000540.3(RYR1):c.9611C>T (p.Ala3204Val)
|
|
|
NM_000540.3(RYR1):c.9619G>A (p.Glu3207Lys)
|
rs2145677238
|
|
NM_000540.3(RYR1):c.9624G>A (p.Pro3208=)
|
rs552470353
|
|
NM_000540.3(RYR1):c.9629T>C (p.Leu3210Pro)
|
rs2145677322
|
|
NM_000540.3(RYR1):c.9633C>A (p.Asn3211Lys)
|
rs978984063
|
|
NM_000540.3(RYR1):c.9642C>A (p.Asn3214Lys)
|
|
|
NM_000540.3(RYR1):c.9643G>A (p.Ala3215Thr)
|
rs745421419
|
|
NM_000540.3(RYR1):c.9645C>G (p.Ala3215=)
|
|
|
NM_000540.3(RYR1):c.9648C>T (p.Cys3216=)
|
|
|
NM_000540.3(RYR1):c.9649T>C (p.Ser3217Pro)
|
rs113422327
|
|
NM_000540.3(RYR1):c.9650C>G (p.Ser3217Cys)
|
|
|
NM_000540.3(RYR1):c.9651C>G (p.Ser3217=)
|
|
|
NM_000540.3(RYR1):c.9651C>T (p.Ser3217=)
|
rs370457617
|
|
NM_000540.3(RYR1):c.9653T>C (p.Val3218Ala)
|
rs1281524830
|
|
NM_000540.3(RYR1):c.965T>C (p.Leu322Pro)
|
|
|
NM_000540.3(RYR1):c.9662C>G (p.Thr3221Ser)
|
rs1173243402
|
|
NM_000540.3(RYR1):c.9671C>G (p.Pro3224Arg)
|
rs373626870
|
|
NM_000540.3(RYR1):c.9672G>A (p.Pro3224=)
|
rs199644190
|
|
NM_000540.3(RYR1):c.9673C>T (p.Arg3225Trp)
|
rs766665861
|
|
NM_000540.3(RYR1):c.9674G>A (p.Arg3225Gln)
|
|
|
NM_000540.3(RYR1):c.9676G>C (p.Glu3226Gln)
|
rs1970963163
|
|
NM_000540.3(RYR1):c.9678G>A (p.Glu3226=)
|
rs2145677653
|
|
NM_000540.3(RYR1):c.9679C>A (p.Arg3227=)
|
rs765250427
|
|
NM_000540.3(RYR1):c.9679C>T (p.Arg3227Trp)
|
rs765250427
|
|
NM_000540.3(RYR1):c.9683C>T (p.Ala3228Val)
|
rs1335263831
|
|
NM_000540.3(RYR1):c.9685+17G>A
|
|
|
NM_000540.3(RYR1):c.9685+19G>A
|
|
|
NM_000540.3(RYR1):c.9685+19G>T
|
|
|
NM_000540.3(RYR1):c.9685+252_9685+253dup
|
rs145471784
|
|
NM_000540.3(RYR1):c.9685+9T>C
|
|
|
NM_000540.3(RYR1):c.9686-10T>C
|
|
|
NM_000540.3(RYR1):c.9686-16C>G
|
|
|
NM_000540.3(RYR1):c.9686-16C>T
|
rs375434330
|
|
NM_000540.3(RYR1):c.9686-17C>G
|
|
|
NM_000540.3(RYR1):c.9686-1del
|
|
|
NM_000540.3(RYR1):c.9686-20C>T
|
|
|
NM_000540.3(RYR1):c.9686-4C>G
|
|
|
NM_000540.3(RYR1):c.9686-6C>T
|
|
|
NM_000540.3(RYR1):c.9686-7_9705del
|
rs2145681468
|
|
NM_000540.3(RYR1):c.9693G>A (p.Gly3231=)
|
rs1424871562
|
|
NM_000540.3(RYR1):c.9697C>T (p.Pro3233Ser)
|
|
|
NM_000540.3(RYR1):c.9699C>A (p.Pro3233=)
|
|
|
NM_000540.3(RYR1):c.9702C>T (p.Asn3234=)
|
|
|
NM_000540.3(RYR1):c.9705T>A (p.Ser3235Arg)
|
|
|
NM_000540.3(RYR1):c.9708G>A (p.Val3236=)
|
|
|
NM_000540.3(RYR1):c.9709GAG[1] (p.Glu3238del)
|
rs780480139
|
|
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.9729C>A (p.Ile3243=)
|
rs1971019877
|
|
NM_000540.3(RYR1):c.9747C>G (p.Leu3249=)
|
|
|
NM_000540.3(RYR1):c.9752C>T (p.Ala3251Val)
|
|
|
NM_000540.3(RYR1):c.9754G>A (p.Asp3252Asn)
|
|
|
NM_000540.3(RYR1):c.9760G>A (p.Gly3254Arg)
|
|
|
NM_000540.3(RYR1):c.9763G>A (p.Gly3255Arg)
|
|
|
NM_000540.3(RYR1):c.9764G>T (p.Gly3255Val)
|
|
|
NM_000540.3(RYR1):c.9765G>A (p.Gly3255=)
|
|
|
NM_000540.3(RYR1):c.9767T>A (p.Leu3256Gln)
|
rs779643621
|
|
NM_000540.3(RYR1):c.9769G>C (p.Ala3257Pro)
|
|
|
NM_000540.3(RYR1):c.9772G>C (p.Glu3258Gln)
|
rs754431075
|
|
NM_000540.3(RYR1):c.9774G>A (p.Glu3258=)
|
|
|
NM_000540.3(RYR1):c.9775T>G (p.Ser3259Ala)
|
|
|
NM_000540.3(RYR1):c.9777A>G (p.Ser3259=)
|
rs1600890512
|
|
NM_000540.3(RYR1):c.9780T>G (p.Gly3260=)
|
|
|
NM_000540.3(RYR1):c.9784C>T (p.Arg3262Cys)
|
rs557030813
|
|
NM_000540.3(RYR1):c.9785G>C (p.Arg3262Pro)
|
rs200855514
|
|
NM_000540.3(RYR1):c.9789C>T (p.Tyr3263=)
|
rs372613003
|
|
NM_000540.3(RYR1):c.978C>T (p.Pro326=)
|
|
|
NM_000540.3(RYR1):c.9791C>T (p.Thr3264Ile)
|
|
|
NM_000540.3(RYR1):c.9796A>T (p.Met3266Leu)
|
rs201588259
|
|
NM_000540.3(RYR1):c.9797T>C (p.Met3266Thr)
|
rs2145682010
|
|
NM_000540.3(RYR1):c.97A>C (p.Lys33Gln)
|
|
|
NM_000540.3(RYR1):c.97A>G (p.Lys33Glu)
|
rs193922746
|
|
NM_000540.3(RYR1):c.9801G>T (p.Pro3267=)
|
|
|
NM_000540.3(RYR1):c.9816C>T (p.Ile3272=)
|
|
|
NM_000540.3(RYR1):c.9820C>T (p.Leu3274=)
|
rs2145682107
|
|
NM_000540.3(RYR1):c.9827T>C (p.Met3276Thr)
|
rs1310839286
|
|
NM_000540.3(RYR1):c.9827dup (p.Met3276fs)
|
|
|
NM_000540.3(RYR1):c.982C>T (p.Arg328Trp)
|
rs193922762
|
|
NM_000540.3(RYR1):c.982_983del (p.Arg328fs)
|
rs776235139
|
|
NM_000540.3(RYR1):c.9831A>G (p.Leu3277=)
|
rs1396803935
|
|
NM_000540.3(RYR1):c.9833G>A (p.Cys3278Tyr)
|
|
|
NM_000540.3(RYR1):c.9840C>T (p.Tyr3280=)
|
|
|
NM_000540.3(RYR1):c.9846C>T (p.Pro3282=)
|
rs886054399
|
|
NM_000540.3(RYR1):c.9850T>A (p.Trp3284Arg)
|
rs1555788577
|
|
NM_000540.3(RYR1):c.9850T>C (p.Trp3284Arg)
|
rs1555788577
|
|
NM_000540.3(RYR1):c.9851G>A (p.Trp3284Ter)
|
rs2145682223
|
|
NM_000540.3(RYR1):c.9852G>A (p.Trp3284Ter)
|
|
|
NM_000540.3(RYR1):c.9853T>A (p.Trp3285Arg)
|
rs1356452031
|
|
NM_000540.3(RYR1):c.9858G>A (p.Glu3286=)
|
rs2145682235
|
|
NM_000540.3(RYR1):c.985G>A (p.Asp329Asn)
|
rs1966919745
|
|
NM_000540.3(RYR1):c.9864G>A (p.Gly3288=)
|
rs939572517
|
|
NM_000540.3(RYR1):c.9867C>A (p.Pro3289=)
|
|
|
NM_000540.3(RYR1):c.9867C>G (p.Pro3289=)
|
rs774464442
|
|
NM_000540.3(RYR1):c.9868G>A (p.Glu3290Lys)
|
rs112151058
|
|
NM_000540.3(RYR1):c.9872C>T (p.Ala3291Val)
|
|
|
NM_000540.3(RYR1):c.9874C>A (p.Pro3292Thr)
|
|
|
NM_000540.3(RYR1):c.9885C>G (p.Ala3295=)
|
rs776468955
|
|
NM_000540.3(RYR1):c.9886C>T (p.Leu3296=)
|
|
|
NM_000540.3(RYR1):c.9889C>T (p.Pro3297Ser)
|
rs2145682498
|
|
NM_000540.3(RYR1):c.9891C>G (p.Pro3297=)
|
rs764839238
|
|
NM_000540.3(RYR1):c.9897C>T (p.Gly3299=)
|
|
|
NM_000540.3(RYR1):c.98A>G (p.Lys33Arg)
|
|
|
NM_000540.3(RYR1):c.9901C>A (p.Pro3301Thr)
|
|
|
NM_000540.3(RYR1):c.9905C>A (p.Pro3302Gln)
|
rs777896104
|
|
NM_000540.3(RYR1):c.9905C>G (p.Pro3302Arg)
|
|
|
NM_000540.3(RYR1):c.9905dup (p.Pro3303fs)
|
rs749656679
|
|
NM_000540.3(RYR1):c.9907C>T (p.Pro3303Ser)
|
|
|
NM_000540.3(RYR1):c.9909del (p.Cys3304fs)
|
|
|
NM_000540.3(RYR1):c.990G>A (p.Val330=)
|
|
|
NM_000540.3(RYR1):c.9910T>C (p.Cys3304Arg)
|
|
|
NM_000540.3(RYR1):c.9933C>T (p.His3311=)
|
|
|
NM_000540.3(RYR1):c.9938A>G (p.Asn3313Ser)
|
|
|
NM_000540.3(RYR1):c.9939C>T (p.Asn3313=)
|
rs1177939773
|
|
NM_000540.3(RYR1):c.9948G>A (p.Leu3316=)
|
|
|
NM_000540.3(RYR1):c.9957C>T (p.Ile3319=)
|
|
|
NM_000540.3(RYR1):c.9960G>A (p.Leu3320=)
|
rs1368894147
|
|
NM_000540.3(RYR1):c.9969C>A (p.Ile3323=)
|
rs763503192
|
|
NM_000540.3(RYR1):c.9969C>T (p.Ile3323=)
|
rs763503192
|
|
NM_000540.3(RYR1):c.9970G>A (p.Val3324Ile)
|
rs761241693
|
|
NM_000540.3(RYR1):c.9970G>T (p.Val3324Phe)
|
rs761241693
|
|
NM_000540.3(RYR1):c.9978C>A (p.Asn3326Lys)
|
rs367543057
|
|
NM_000540.3(RYR1):c.9983del (p.Gly3328fs)
|
rs2145682923
|
|
NM_000540.3(RYR1):c.9999C>T (p.Ser3333=)
|
|
|
NM_000540.3(RYR1):c.[1834G>C];[2045G>A]
|
|
|
NM_001042723.1(RYR1):c.5140_5142del (p.Leu1714del)
|
rs1438501767
|
|