NM_001035.3(RYR2):c.10935+18C>T
|
rs2797445
|
0.98361
|
NM_001035.3(RYR2):c.6906T>C (p.Leu2302=)
|
rs707189
|
0.96110
|
NM_001035.3(RYR2):c.10776C>T (p.Ser3592=)
|
rs2685301
|
0.95962
|
NM_001035.3(RYR2):c.10503C>T (p.Thr3501=)
|
rs2797441
|
0.95950
|
NM_001035.3(RYR2):c.2973A>G (p.Ser991=)
|
rs2253273
|
0.84980
|
NM_006073.4(TRDN):c.601C>G (p.Leu201Val)
|
rs6902416
|
0.84721
|
NM_001232.4(CASQ2):c.420+6T>C
|
rs9428083
|
0.71176
|
NM_001035.3(RYR2):c.13783-6A>G
|
rs790901
|
0.66919
|
NM_001035.3(RYR2):c.13913+12A>C
|
rs790900
|
0.66578
|
NM_001035.3(RYR2):c.13476+16A>G
|
rs2256242
|
0.60593
|
NM_006073.4(TRDN):c.484+1457C>T
|
rs9490795
|
0.56990
|
NM_001035.3(RYR2):c.677-11T>A
|
rs10754602
|
0.53281
|
NM_001035.3(RYR2):c.1359C>T (p.Ser453=)
|
rs3765097
|
0.51474
|
NM_006073.4(TRDN):c.383C>G (p.Thr128Ser)
|
rs9490809
|
0.50546
|
NM_001035.3(RYR2):c.1612+14T>C
|
rs2045955
|
0.48321
|
NM_001035.3(RYR2):c.7806C>T (p.His2602=)
|
rs684923
|
0.47802
|
NM_006073.4(TRDN):c.2051-19G>A
|
rs7754205
|
0.42872
|
NM_001232.4(CASQ2):c.1185C>T (p.Asp395=)
|
rs7413162
|
0.39681
|
NM_001035.3(RYR2):c.11963-11T>C
|
rs790889
|
0.35417
|
NM_006073.4(TRDN):c.1188A>G (p.Lys396=)
|
rs6901953
|
0.35392
|
NM_001232.4(CASQ2):c.196A>G (p.Thr66Ala)
|
rs4074536
|
0.34486
|
NM_001035.3(RYR2):c.464-8A>C
|
rs10925391
|
0.33866
|
NM_006073.4(TRDN):c.1186+16C>T
|
rs3813328
|
0.33405
|
NM_001035.3(RYR2):c.8873A>G (p.Gln2958Arg)
|
rs34967813
|
0.20632
|
NM_006073.4(TRDN):c.1257C>A (p.Asp419Glu)
|
rs17737379
|
0.17356
|
NM_006073.4(TRDN):c.1370-11C>A
|
rs9401658
|
0.16989
|
NM_006073.4(TRDN):c.1211T>G (p.Val404Gly)
|
rs28494009
|
0.16504
|
NM_001035.3(RYR2):c.849-8T>C
|
rs16835237
|
0.09863
|
NM_006073.4(TRDN):c.1408C>A (p.Leu470Met)
|
rs6569336
|
0.09024
|
NM_001035.3(RYR2):c.5656G>A (p.Gly1886Ser)
|
rs3766871
|
0.06110
|
NM_001035.3(RYR2):c.1611G>A (p.Leu537=)
|
rs78281932
|
0.05734
|
NM_001035.3(RYR2):c.4684-11C>T
|
rs7546045
|
0.05719
|
NM_001232.4(CASQ2):c.1194T>C (p.Asp398=)
|
rs28730711
|
0.04871
|
NM_001035.3(RYR2):c.13564-41A>G
|
rs114289907
|
0.03849
|
NM_001035.3(RYR2):c.5400A>G (p.Lys1800=)
|
rs3820216
|
0.03524
|
NM_006073.4(TRDN):c.1805-6C>T
|
rs201544606
|
0.03259
|
NM_006073.4(TRDN):c.1105+5G>A
|
rs41284430
|
0.03253
|
NM_001035.3(RYR2):c.1776A>T (p.Gly592=)
|
rs72549414
|
0.02926
|
NM_001035.3(RYR2):c.8437-7dup
|
rs148246251
|
0.02544
|
NM_001232.4(CASQ2):c.731A>G (p.His244Arg)
|
rs28730716
|
0.02511
|
NM_006073.4(TRDN):c.1805-5dup
|
rs755375052
|
0.02440
|
NM_001035.3(RYR2):c.9449+8T>A
|
rs60777199
|
0.02348
|
NM_001232.4(CASQ2):c.1014+9C>T
|
rs77775029
|
0.02121
|
NM_001232.4(CASQ2):c.1005T>C (p.Asn335=)
|
rs28730712
|
0.02116
|
NM_001035.3(RYR2):c.11557+19C>T
|
rs113408406
|
0.01994
|
NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu)
|
rs41315858
|
0.01767
|
NM_001035.3(RYR2):c.14421C>T (p.Asp4807=)
|
rs75206601
|
0.01733
|
NM_006073.4(TRDN):c.1620A>G (p.Ile540Met)
|
rs7771303
|
0.01556
|
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly)
|
rs56229512
|
0.01531
|
NM_001035.3(RYR2):c.1519G>A (p.Val507Ile)
|
rs16835270
|
0.01462
|
NM_001035.3(RYR2):c.6928+4G>A
|
rs79862521
|
0.01335
|
NM_001035.3(RYR2):c.4684-5G>C
|
rs7522981
|
0.01334
|
NM_001035.3(RYR2):c.11988C>T (p.Gly3996=)
|
rs56226196
|
0.01290
|
NM_001232.4(CASQ2):c.226G>A (p.Val76Met)
|
rs10801999
|
0.01289
|
NM_006073.4(TRDN):c.1096G>A (p.Ala366Thr)
|
rs35047281
|
0.01253
|
NM_006073.4(TRDN):c.1016G>A (p.Ser339Asn)
|
rs35766971
|
0.01214
|
NM_001035.3(RYR2):c.10230+20T>C
|
rs74323916
|
0.01122
|
NM_001035.3(RYR2):c.6440+20C>T
|
rs115755128
|
0.01092
|
NM_001035.3(RYR2):c.11880+13_11880+16del
|
rs199562036
|
0.01032
|
NM_001035.3(RYR2):c.2397-6C>T
|
rs78165942
|
0.01029
|
NM_001035.3(RYR2):c.13977G>A (p.Glu4659=)
|
rs78369334
|
0.00989
|
NM_001035.3(RYR2):c.2204-7C>G
|
rs147479514
|
0.00944
|
NM_006073.4(TRDN):c.403G>A (p.Glu135Lys)
|
rs192289289
|
0.00900
|
NM_001035.3(RYR2):c.11835C>T (p.Val3945=)
|
rs78939657
|
0.00787
|
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val)
|
rs72549415
|
0.00737
|
NM_006073.4(TRDN):c.1871-15G>A
|
rs59935057
|
0.00724
|
NM_006073.4(TRDN):c.274G>A (p.Val92Ile)
|
rs34808221
|
0.00711
|
NM_001035.3(RYR2):c.13260+14A>G
|
rs141528541
|
0.00700
|
NM_001035.3(RYR2):c.7342+16A>G
|
rs76678214
|
0.00698
|
NM_001035.3(RYR2):c.2046A>G (p.Thr682=)
|
rs116098815
|
0.00675
|
NM_001035.3(RYR2):c.8448C>T (p.Asp2816=)
|
rs144876996
|
0.00659
|
NM_006073.4(TRDN):c.1538-13T>G
|
rs55704802
|
0.00651
|
NM_001035.3(RYR2):c.576+7G>C
|
rs10925392
|
0.00643
|
NM_001035.3(RYR2):c.14299-12A>G
|
rs41267519
|
0.00603
|
NM_001035.3(RYR2):c.10143-18A>G
|
rs3736542
|
0.00594
|
NM_001035.3(RYR2):c.14809-15C>G
|
rs790897
|
0.00538
|
NM_001035.3(RYR2):c.1292+20C>T
|
rs182050281
|
0.00493
|
NM_001035.3(RYR2):c.1863C>T (p.His621=)
|
rs17686573
|
0.00461
|
NM_006073.4(TRDN):c.1567+19T>C
|
rs182813107
|
0.00459
|
NM_001035.3(RYR2):c.14029C>T (p.Leu4677=)
|
rs112864477
|
0.00446
|
NM_006073.4(TRDN):c.1721-4A>G
|
rs60743141
|
0.00430
|
NM_001035.3(RYR2):c.7365C>T (p.Asp2455=)
|
rs72549416
|
0.00413
|
NM_001035.3(RYR2):c.7038A>C (p.Ala2346=)
|
rs116601686
|
0.00399
|
NM_001035.3(RYR2):c.7488C>T (p.Leu2496=)
|
rs143906555
|
0.00397
|
NM_001035.3(RYR2):c.13566C>T (p.Val4522=)
|
rs57360419
|
0.00366
|
NM_001035.3(RYR2):c.13740G>A (p.Thr4580=)
|
rs115854664
|
0.00333
|
NM_001035.3(RYR2):c.11476+15C>T
|
rs192323827
|
0.00312
|
NM_001035.3(RYR2):c.9666C>T (p.Ala3222=)
|
rs116442127
|
0.00308
|
NM_001035.3(RYR2):c.11880+16G>A
|
rs73103904
|
0.00306
|
NM_006073.4(TRDN):c.1510G>A (p.Gly504Ser)
|
rs150531306
|
0.00305
|
NM_001035.3(RYR2):c.1218G>A (p.Ser406=)
|
rs147389346
|
0.00283
|
NM_001035.3(RYR2):c.3849A>G (p.Leu1283=)
|
rs143603583
|
0.00282
|
NM_001035.3(RYR2):c.9867G>A (p.Gly3289=)
|
rs190537182
|
0.00281
|
NM_001035.3(RYR2):c.5613C>T (p.Asp1871=)
|
rs116774472
|
0.00265
|
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=)
|
rs138073811
|
0.00264
|
NM_001035.3(RYR2):c.13983C>T (p.Tyr4661=)
|
rs138498780
|
0.00254
|
NM_001232.4(CASQ2):c.198G>A (p.Thr66=)
|
rs74114618
|
0.00243
|
NM_001035.3(RYR2):c.4068C>T (p.Pro1356=)
|
rs199821105
|
0.00240
|
NM_001035.3(RYR2):c.6441-19C>T
|
rs140440259
|
0.00239
|
NM_001035.3(RYR2):c.2204-16G>T
|
rs368648602
|
0.00235
|
NM_006073.4(TRDN):c.430C>T (p.His144Tyr)
|
rs79182520
|
0.00232
|
NM_001035.3(RYR2):c.6555+6G>A
|
rs372661934
|
0.00228
|
NM_001035.3(RYR2):c.4989C>T (p.Ala1663=)
|
rs147060179
|
0.00220
|
NM_001035.3(RYR2):c.6555+8C>T
|
rs1759122
|
0.00211
|
NM_001035.3(RYR2):c.2396+17T>G
|
rs376363428
|
0.00207
|
NM_001035.3(RYR2):c.2760G>A (p.Glu920=)
|
rs186181155
|
0.00205
|
NM_001035.3(RYR2):c.10324-4A>G
|
rs72751287
|
0.00203
|
NM_006073.4(TRDN):c.1531C>A (p.Pro511Thr)
|
rs146935076
|
0.00183
|
NM_006888.6(CALM1):c.4-10C>G
|
rs191723671
|
0.00166
|
NM_001035.3(RYR2):c.13782+20A>G
|
rs368059068
|
0.00162
|
NM_001232.4(CASQ2):c.421-14G>A
|
rs139281637
|
0.00159
|
NM_001035.3(RYR2):c.14756+12C>T
|
rs2275693
|
0.00156
|
NM_001035.3(RYR2):c.4596+12G>A
|
rs148557427
|
0.00153
|
NM_001035.3(RYR2):c.2301G>T (p.Ser767=)
|
rs117588730
|
0.00150
|
NM_001035.3(RYR2):c.309+7C>T
|
rs377710043
|
0.00146
|
NM_001035.3(RYR2):c.9067+12C>T
|
rs112365440
|
0.00143
|
NM_001035.3(RYR2):c.9560A>G (p.Lys3187Arg)
|
rs184218219
|
0.00137
|
NM_006073.4(TRDN):c.1713A>C (p.Glu571Asp)
|
rs201115952
|
0.00133
|
NM_001035.3(RYR2):c.10641G>A (p.Thr3547=)
|
rs144256966
|
0.00132
|
NM_006073.4(TRDN):c.1367A>G (p.Gln456Arg)
|
rs200243235
|
0.00128
|
NM_001035.3(RYR2):c.5586C>T (p.Asp1862=)
|
rs193922628
|
0.00123
|
NM_001035.3(RYR2):c.4740G>A (p.Pro1580=)
|
rs79811945
|
0.00119
|
NM_001035.3(RYR2):c.726C>T (p.Asp242=)
|
rs76380341
|
0.00119
|
NM_001035.3(RYR2):c.4605G>A (p.Pro1535=)
|
rs201916326
|
0.00117
|
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=)
|
rs41267517
|
0.00116
|
NM_001035.3(RYR2):c.1143C>T (p.Ser381=)
|
rs368844286
|
0.00105
|
NM_001035.3(RYR2):c.1135G>A (p.Val379Met)
|
rs199693714
|
0.00104
|
NM_001035.3(RYR2):c.1296C>A (p.Gly432=)
|
rs184176405
|
0.00103
|
NM_006073.4(TRDN):c.932-4C>G
|
rs77768246
|
0.00098
|
NM_001035.3(RYR2):c.828A>G (p.Arg276=)
|
rs180711819
|
0.00086
|
NM_001035.3(RYR2):c.231G>A (p.Ala77=)
|
rs376225470
|
0.00084
|
NM_006888.6(CALM1):c.178+18A>G
|
rs201018787
|
0.00078
|
NM_001232.4(CASQ2):c.481A>G (p.Ile161Val)
|
rs146333579
|
0.00076
|
NM_001035.3(RYR2):c.7619A>G (p.His2540Arg)
|
rs200105499
|
0.00072
|
NM_001035.3(RYR2):c.1134C>T (p.Asp378=)
|
rs193922621
|
0.00071
|
NM_001035.3(RYR2):c.14484G>T (p.Gly4828=)
|
rs370996795
|
0.00071
|
NM_001035.3(RYR2):c.3030T>C (p.Asp1010=)
|
rs138064129
|
0.00071
|
NM_006073.4(TRDN):c.84C>T (p.Pro28=)
|
rs145992727
|
0.00070
|
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr)
|
rs201500134
|
0.00069
|
NM_001035.3(RYR2):c.11557+14C>T
|
rs374155447
|
0.00066
|
NM_001035.3(RYR2):c.14090+14C>T
|
rs374425124
|
0.00066
|
NM_001035.3(RYR2):c.1110A>G (p.Leu370=)
|
rs150705689
|
0.00063
|
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln)
|
rs149514924
|
0.00063
|
NM_001035.3(RYR2):c.4347T>C (p.Asp1449=)
|
rs368930040
|
0.00063
|
NM_001035.3(RYR2):c.615C>T (p.Ala205=)
|
rs112680790
|
0.00063
|
NM_001035.3(RYR2):c.2935G>T (p.Ala979Ser)
|
rs202015519
|
0.00061
|
NM_006073.4(TRDN):c.277C>T (p.Arg93Cys)
|
rs370788759
|
0.00060
|
NM_001035.3(RYR2):c.11092-10A>T
|
rs577119352
|
0.00059
|
NM_001035.3(RYR2):c.3054T>C (p.Tyr1018=)
|
rs113422365
|
0.00058
|
NM_001035.3(RYR2):c.3230T>C (p.Val1077Ala)
|
rs202176504
|
0.00057
|
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu)
|
rs146664754
|
0.00055
|
NM_001035.3(RYR2):c.1548T>C (p.Asp516=)
|
rs146129084
|
0.00053
|
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=)
|
rs370332882
|
0.00051
|
NM_001035.3(RYR2):c.12663C>T (p.Ser4221=)
|
rs370297602
|
0.00051
|
NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met)
|
rs200236750
|
0.00051
|
NM_001035.3(RYR2):c.9450-3T>C
|
rs188671846
|
0.00049
|
NM_001035.3(RYR2):c.10231-4T>C
|
rs117180147
|
0.00048
|
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly)
|
rs200525962
|
0.00048
|
NM_001035.3(RYR2):c.8209-3A>G
|
rs376788358
|
0.00047
|
NM_001035.3(RYR2):c.13261-18C>T
|
rs376854613
|
0.00046
|
NM_001035.3(RYR2):c.1822C>T (p.His608Tyr)
|
rs727504718
|
0.00046
|
NM_001035.3(RYR2):c.3888C>T (p.Asn1296=)
|
rs373721253
|
0.00046
|
NM_001035.3(RYR2):c.5619A>G (p.Ala1873=)
|
rs373282364
|
0.00046
|
NM_001035.3(RYR2):c.7233C>T (p.Ala2411=)
|
rs367994477
|
0.00046
|
NM_006888.6(CALM1):c.303C>T (p.Ile101=)
|
rs143503733
|
0.00046
|
NM_001035.3(RYR2):c.6337G>A (p.Val2113Met)
|
rs186906598
|
0.00045
|
NM_006073.4(TRDN):c.1895G>A (p.Arg632Lys)
|
rs181571822
|
0.00044
|
NM_006073.4(TRDN):c.611-19A>T
|
rs142018848
|
0.00044
|
NM_001035.3(RYR2):c.1053A>G (p.Thr351=)
|
rs187565743
|
0.00043
|
NM_001035.3(RYR2):c.13974A>G (p.Gly4658=)
|
rs374606415
|
0.00043
|
NM_001035.3(RYR2):c.14152-17C>G
|
rs368078898
|
0.00043
|
NM_001035.3(RYR2):c.2397-16C>T
|
rs12081629
|
0.00042
|
NM_001035.3(RYR2):c.463+14G>A
|
rs776302587
|
0.00042
|
NM_006073.4(TRDN):c.546G>A (p.Lys182=)
|
rs377594350
|
0.00042
|
NM_001035.3(RYR2):c.12705C>T (p.Phe4235=)
|
rs373606009
|
0.00041
|
NM_001035.3(RYR2):c.273+18G>A
|
rs371912039
|
0.00041
|
NM_006073.4(TRDN):c.1193A>T (p.Glu398Val)
|
rs374355537
|
0.00041
|
NM_001035.3(RYR2):c.9519T>C (p.Thr3173=)
|
rs371931287
|
0.00039
|
NM_001232.4(CASQ2):c.928G>A (p.Asp310Asn)
|
rs141314684
|
0.00039
|
NM_001035.3(RYR2):c.10381A>G (p.Met3461Val)
|
rs147512481
|
0.00038
|
NM_001035.3(RYR2):c.11246-11del
|
rs397516503
|
0.00038
|
NM_001035.3(RYR2):c.11496C>T (p.Asp3832=)
|
rs397516505
|
0.00038
|
NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys)
|
rs200092869
|
0.00038
|
NM_006073.4(TRDN):c.1538-19T>A
|
rs142237914
|
0.00038
|
NM_006073.4(TRDN):c.1472-12G>A
|
rs375364108
|
0.00036
|
NM_006073.4(TRDN):c.367G>A (p.Asp123Asn)
|
rs201021891
|
0.00036
|
NM_001035.3(RYR2):c.463+6dup
|
rs397516534
|
0.00034
|
NM_001035.3(RYR2):c.7925G>A (p.Arg2642Lys)
|
rs377473366
|
0.00034
|
NM_006073.4(TRDN):c.71T>A (p.Val24Glu)
|
rs201097255
|
0.00034
|
NM_006888.6(CALM1):c.69T>C (p.Asp23=)
|
rs144339242
|
0.00034
|
NM_001232.4(CASQ2):c.874G>T (p.Ala292Ser)
|
rs200643387
|
0.00033
|
NM_006073.4(TRDN):c.1472-13C>T
|
rs367962513
|
0.00033
|
NM_001232.4(CASQ2):c.320-18C>T
|
rs376871374
|
0.00032
|
NM_001035.3(RYR2):c.11092-6A>T
|
rs397516501
|
0.00031
|
NM_001035.3(RYR2):c.11646+18T>A
|
rs368433873
|
0.00031
|
NM_001035.3(RYR2):c.12842C>T (p.Thr4281Met)
|
rs201829896
|
0.00031
|
NM_001035.3(RYR2):c.3067-16_3067-15del
|
rs727504453
|
0.00031
|
NM_001035.3(RYR2):c.774-14G>T
|
rs370114411
|
0.00031
|
NM_001232.4(CASQ2):c.1131A>T (p.Glu377Asp)
|
rs148824162
|
0.00031
|
NM_001035.3(RYR2):c.1292+19G>A
|
rs368198276
|
0.00030
|
NM_001035.3(RYR2):c.9923A>G (p.Asn3308Ser)
|
rs201081663
|
0.00030
|
NM_001035.3(RYR2):c.649A>G (p.Ile217Val)
|
rs200642525
|
0.00029
|
NM_006073.4(TRDN):c.992-17T>G
|
rs189142809
|
0.00029
|
NM_001035.3(RYR2):c.10231-5C>T
|
rs186326951
|
0.00028
|
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys)
|
rs571985775
|
0.00028
|
NM_001035.3(RYR2):c.14809-20C>T
|
rs141119268
|
0.00028
|
NM_001232.4(CASQ2):c.861C>A (p.Ile287=)
|
rs143718767
|
0.00028
|
NM_006073.4(TRDN):c.1811C>T (p.Thr604Ile)
|
rs763939252
|
0.00028
|
NM_001035.3(RYR2):c.12917T>C (p.Phe4306Ser)
|
rs776091285
|
0.00026
|
NM_001035.3(RYR2):c.14757-19A>G
|
rs190533014
|
0.00026
|
NM_001035.3(RYR2):c.14757-7T>A
|
rs757297613
|
0.00026
|
NM_001035.3(RYR2):c.8831-9A>C
|
rs187977513
|
0.00026
|
NM_006073.4(TRDN):c.2187G>T (p.Gln729His)
|
rs373439044
|
0.00026
|
NM_001035.3(RYR2):c.2574G>A (p.Thr858=)
|
rs367992907
|
0.00025
|
NM_001035.3(RYR2):c.6689-12T>C
|
rs370972311
|
0.00025
|
NM_001035.3(RYR2):c.8204A>C (p.Asp2735Ala)
|
rs1213772557
|
0.00025
|
NM_001035.3(RYR2):c.10554+16T>C
|
rs370288739
|
0.00024
|
NM_001035.3(RYR2):c.12492G>A (p.Gln4164=)
|
rs377293019
|
0.00024
|
NM_001035.3(RYR2):c.3720C>T (p.Ala1240=)
|
rs750335699
|
0.00024
|
NM_001035.3(RYR2):c.892C>T (p.Arg298Cys)
|
rs551099887
|
0.00024
|
NM_001232.4(CASQ2):c.985C>T (p.Pro329Ser)
|
rs28730713
|
0.00024
|
NM_001035.3(RYR2):c.2907-19C>T
|
rs549409624
|
0.00023
|
NM_001035.3(RYR2):c.8060G>A (p.Ser2687Asn)
|
rs202020477
|
0.00023
|
NM_006073.4(TRDN):c.1783+18G>A
|
rs374452538
|
0.00023
|
NM_006888.6(CALM1):c.285+20G>T
|
rs185096080
|
0.00023
|
NM_006073.4(TRDN):c.375C>T (p.Asp125=)
|
rs377440434
|
0.00022
|
NM_001035.3(RYR2):c.1005+13A>G
|
rs552027921
|
0.00021
|
NM_001035.3(RYR2):c.10143-19T>C
|
rs373127797
|
0.00021
|
NM_001035.3(RYR2):c.13137C>A (p.Ile4379=)
|
rs369917806
|
0.00021
|
NM_001035.3(RYR2):c.1477-17_1477-16insC
|
rs746069322
|
0.00021
|
NM_001035.3(RYR2):c.2389G>A (p.Gly797Arg)
|
rs200121281
|
0.00021
|
NM_001035.3(RYR2):c.2613+4C>G
|
rs371880082
|
0.00021
|
NM_001035.3(RYR2):c.577-14G>A
|
rs148019277
|
0.00021
|
NM_001232.4(CASQ2):c.607-15T>C
|
rs138298959
|
0.00021
|
NM_001035.3(RYR2):c.13303A>G (p.Thr4435Ala)
|
rs374019555
|
0.00020
|
NM_001035.3(RYR2):c.14220C>T (p.Ala4740=)
|
rs368971586
|
0.00020
|
NM_001035.3(RYR2):c.1939C>T (p.Arg647Cys)
|
rs202040519
|
0.00020
|
NM_001035.3(RYR2):c.1006-12C>T
|
rs367998175
|
0.00019
|
NM_001035.3(RYR2):c.3024G>A (p.Ala1008=)
|
rs566157997
|
0.00019
|
NM_001035.3(RYR2):c.3356G>A (p.Arg1119His)
|
rs201312753
|
0.00019
|
NM_001232.4(CASQ2):c.1011A>T (p.Thr337=)
|
rs137999497
|
0.00019
|
NM_006073.4(TRDN):c.1537+1G>A
|
rs189125299
|
0.00019
|
NM_001035.3(RYR2):c.11116G>A (p.Asp3706Asn)
|
rs942040362
|
0.00018
|
NM_001035.3(RYR2):c.3225C>T (p.Ala1075=)
|
rs727505215
|
0.00018
|
NM_001035.3(RYR2):c.3408C>A (p.Ala1136=)
|
rs371248758
|
0.00018
|
NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys)
|
rs564806219
|
0.00018
|
NM_001035.3(RYR2):c.4761C>T (p.His1587=)
|
rs369612535
|
0.00017
|
NM_006073.4(TRDN):c.1215A>G (p.Glu405=)
|
rs939674538
|
0.00017
|
NM_006073.4(TRDN):c.419A>G (p.Lys140Arg)
|
rs200953683
|
0.00017
|
NM_001035.3(RYR2):c.10962A>C (p.Glu3654Asp)
|
rs547005691
|
0.00016
|
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn)
|
rs193922623
|
0.00016
|
NM_001035.3(RYR2):c.2711A>G (p.Tyr904Cys)
|
rs201131315
|
0.00016
|
NM_001035.3(RYR2):c.2755G>A (p.Val919Met)
|
rs201079716
|
0.00016
|
NM_001035.3(RYR2):c.4445G>A (p.Arg1482His)
|
rs373024059
|
0.00016
|
NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser)
|
rs185237690
|
0.00016
|
NM_001035.3(RYR2):c.7075C>A (p.Arg2359=)
|
rs200921429
|
0.00016
|
NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp)
|
rs200420897
|
0.00016
|
NM_001035.3(RYR2):c.8592A>G (p.Gly2864=)
|
rs763801208
|
0.00016
|
NM_001232.4(CASQ2):c.1087G>A (p.Glu363Lys)
|
rs1193520667
|
0.00016
|
NM_001232.4(CASQ2):c.177G>A (p.Pro59=)
|
rs371260149
|
0.00016
|
NM_006073.4(TRDN):c.1282C>T (p.Arg428Ter)
|
rs202219343
|
0.00016
|
NM_006073.4(TRDN):c.85G>A (p.Gly29Arg)
|
rs763469367
|
0.00016
|
NM_001035.3(RYR2):c.6022+5G>A
|
rs376389213
|
0.00015
|
NM_006073.4(TRDN):c.239C>T (p.Ser80Phe)
|
rs181287533
|
0.00015
|
NM_001035.3(RYR2):c.10523T>C (p.Ile3508Thr)
|
rs115622575
|
0.00014
|
NM_001035.3(RYR2):c.1476+4C>T
|
rs369442980
|
0.00014
|
NM_001035.3(RYR2):c.3152G>A (p.Arg1051His)
|
rs79457258
|
0.00014
|
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg)
|
rs200450676
|
0.00014
|
NM_001035.3(RYR2):c.4747C>T (p.Pro1583Ser)
|
rs200070226
|
0.00014
|
NM_001035.3(RYR2):c.8367T>C (p.Ile2789=)
|
rs563219502
|
0.00014
|
NM_001035.3(RYR2):c.8378G>A (p.Arg2793Gln)
|
rs559773178
|
0.00014
|
NM_001035.3(RYR2):c.8830+17C>T
|
rs1042309310
|
0.00014
|
NM_001232.4(CASQ2):c.338G>A (p.Ser113Asn)
|
rs199750975
|
0.00014
|
NM_001035.3(RYR2):c.11811C>T (p.His3937=)
|
rs370924416
|
0.00013
|
NM_001035.3(RYR2):c.14703G>C (p.Val4901=)
|
rs201371633
|
0.00013
|
NM_001035.3(RYR2):c.3067-15T>C
|
rs185110433
|
0.00013
|
NM_001035.3(RYR2):c.3153C>T (p.Arg1051=)
|
rs397516524
|
0.00013
|
NM_001035.3(RYR2):c.3251G>A (p.Arg1084Lys)
|
rs193922624
|
0.00013
|
NM_001035.3(RYR2):c.3951G>A (p.Thr1317=)
|
rs372097270
|
0.00013
|
NM_001035.3(RYR2):c.4911-19A>G
|
rs140517111
|
0.00013
|
NM_001035.3(RYR2):c.5373C>A (p.Thr1791=)
|
rs765283048
|
0.00013
|
NM_001035.3(RYR2):c.7062C>T (p.Ala2354=)
|
rs182038403
|
0.00013
|
NM_001035.3(RYR2):c.9963G>A (p.Pro3321=)
|
rs199730192
|
0.00013
|
NM_001232.4(CASQ2):c.533-6C>T
|
rs545407254
|
0.00013
|
NM_006073.4(TRDN):c.1627C>A (p.Gln543Lys)
|
rs9398723
|
0.00013
|
NM_006073.4(TRDN):c.591A>C (p.Glu197Asp)
|
rs751143632
|
0.00013
|
NM_006888.6(CALM1):c.324C>T (p.His108=)
|
rs139706811
|
0.00013
|
NM_001035.3(RYR2):c.6280G>A (p.Gly2094Ser)
|
rs777365708
|
0.00012
|
NM_001035.3(RYR2):c.7824+20G>A
|
rs373240466
|
0.00012
|
NM_006073.4(TRDN):c.300G>A (p.Thr100=)
|
rs377393927
|
0.00012
|
NM_006888.6(CALM1):c.3+13T>C
|
rs745827400
|
0.00012
|
NM_001035.3(RYR2):c.10221G>A (p.Ser3407=)
|
rs373769240
|
0.00011
|
NM_001035.3(RYR2):c.10700G>A (p.Arg3567His)
|
rs577371071
|
0.00011
|
NM_001035.3(RYR2):c.14808+3A>G
|
rs377491955
|
0.00011
|
NM_001035.3(RYR2):c.2630A>C (p.His877Pro)
|
rs561321743
|
0.00011
|
NM_001035.3(RYR2):c.402C>T (p.Ser134=)
|
rs776832019
|
0.00011
|
NM_001035.3(RYR2):c.4096A>G (p.Thr1366Ala)
|
rs369982130
|
0.00011
|
NM_001035.3(RYR2):c.6793-3C>T
|
rs372314209
|
0.00011
|
NM_001035.3(RYR2):c.7099G>A (p.Gly2367Arg)
|
rs369152386
|
0.00011
|
NM_001035.3(RYR2):c.7542G>A (p.Leu2514=)
|
rs371088367
|
0.00011
|
NM_001035.3(RYR2):c.8208+15A>G
|
rs142975943
|
0.00011
|
NM_001035.3(RYR2):c.8419A>G (p.Ile2807Val)
|
rs1394059438
|
0.00011
|
NM_001035.3(RYR2):c.9655G>A (p.Val3219Met)
|
rs371147744
|
0.00011
|
NM_001232.4(CASQ2):c.421-18G>C
|
rs202228431
|
0.00011
|
NM_001232.4(CASQ2):c.421-20A>T
|
rs201559752
|
0.00011
|
NM_001232.4(CASQ2):c.540G>A (p.Lys180=)
|
rs72554057
|
0.00011
|
NM_006073.4(TRDN):c.129G>A (p.Thr43=)
|
rs373840513
|
0.00011
|
NM_006073.4(TRDN):c.23-19T>G
|
rs370102595
|
0.00011
|
NM_006073.4(TRDN):c.365A>G (p.Asp122Gly)
|
rs749353413
|
0.00011
|
NM_006073.4(TRDN):c.510A>G (p.Gly170=)
|
rs773658957
|
0.00011
|
NM_001035.3(RYR2):c.12114T>C (p.Asp4038=)
|
rs368103385
|
0.00010
|
NM_001035.3(RYR2):c.13267A>C (p.Lys4423Gln)
|
rs376908332
|
0.00010
|
NM_001035.3(RYR2):c.13957-5C>G
|
rs189772599
|
0.00010
|
NM_001035.3(RYR2):c.14757-6C>T
|
rs779122362
|
0.00010
|
NM_001035.3(RYR2):c.2357G>A (p.Gly786Asp)
|
rs182778119
|
0.00010
|
NM_001035.3(RYR2):c.3883A>G (p.Ser1295Gly)
|
rs200574919
|
0.00010
|
NM_001035.3(RYR2):c.4069G>C (p.Asp1357His)
|
rs193922626
|
0.00010
|
NM_001035.3(RYR2):c.4094C>T (p.Ala1365Val)
|
rs373261115
|
0.00010
|
NM_001035.3(RYR2):c.5571G>A (p.Pro1857=)
|
rs371934582
|
0.00010
|
NM_001035.3(RYR2):c.8590+4A>G
|
rs778964264
|
0.00010
|
NM_001035.3(RYR2):c.9067+10C>T
|
rs372631657
|
0.00010
|
NM_001035.3(RYR2):c.9068-20G>T
|
rs766109127
|
0.00010
|
NM_001035.3(RYR2):c.9190G>A (p.Ala3064Thr)
|
rs375482798
|
0.00010
|
NM_001035.3(RYR2):c.9368-12C>T
|
rs559526695
|
0.00010
|
NM_001232.4(CASQ2):c.1186G>A (p.Asp396Asn)
|
rs368007942
|
0.00010
|
NM_006073.4(TRDN):c.125C>T (p.Thr42Met)
|
rs371627659
|
0.00010
|
NM_006073.4(TRDN):c.1951+6C>A
|
rs781510666
|
0.00010
|
NM_006073.4(TRDN):c.2093A>G (p.Asn698Ser)
|
rs377368177
|
0.00010
|
NM_001035.3(RYR2):c.10680T>A (p.His3560Gln)
|
rs727503404
|
0.00009
|
NM_001035.3(RYR2):c.13069G>A (p.Ala4357Thr)
|
rs747622318
|
0.00009
|
NM_001035.3(RYR2):c.14101A>G (p.Ile4701Val)
|
rs755065507
|
0.00009
|
NM_001035.3(RYR2):c.2828T>C (p.Leu943Ser)
|
rs373665895
|
0.00009
|
NM_001035.3(RYR2):c.3598+13T>C
|
rs145104355
|
0.00009
|
NM_001035.3(RYR2):c.4044G>A (p.Lys1348=)
|
rs755391572
|
0.00009
|
NM_001035.3(RYR2):c.4273A>G (p.Thr1425Ala)
|
rs776046135
|
0.00009
|
NM_001035.3(RYR2):c.463+9C>T
|
rs559545973
|
0.00009
|
NM_001035.3(RYR2):c.4800C>T (p.Pro1600=)
|
rs546340378
|
0.00009
|
NM_001035.3(RYR2):c.5600A>C (p.Glu1867Ala)
|
rs539021736
|
0.00009
|
NM_001035.3(RYR2):c.5754C>T (p.Val1918=)
|
rs397516545
|
0.00009
|
NM_001035.3(RYR2):c.5756G>A (p.Arg1919Gln)
|
rs199893812
|
0.00009
|
NM_001035.3(RYR2):c.639C>T (p.Ser213=)
|
rs375180398
|
0.00009
|
NM_001035.3(RYR2):c.6441-8C>G
|
rs770177812
|
0.00009
|
NM_001035.3(RYR2):c.7083T>C (p.Gly2361=)
|
rs749474378
|
0.00009
|
NM_001035.3(RYR2):c.7094A>G (p.Asn2365Ser)
|
rs369774984
|
0.00009
|
NM_001035.3(RYR2):c.7511C>T (p.Thr2504Met)
|
rs769219555
|
0.00009
|
NM_001035.3(RYR2):c.7689A>G (p.Lys2563=)
|
rs201082550
|
0.00009
|
NM_001035.3(RYR2):c.9129-9A>G
|
rs992812963
|
0.00009
|
NM_001232.4(CASQ2):c.235C>T (p.Leu79Phe)
|
rs771298193
|
0.00009
|
NM_001232.4(CASQ2):c.80C>T (p.Thr27Ile)
|
rs773237428
|
0.00009
|
NM_001232.4(CASQ2):c.898G>A (p.Asp300Asn)
|
rs376147306
|
0.00009
|
NM_006073.4(TRDN):c.1808G>C (p.Gly603Ala)
|
rs766406818
|
0.00009
|
NM_006073.4(TRDN):c.1951+15C>T
|
rs370036052
|
0.00009
|
NM_006073.4(TRDN):c.727A>G (p.Thr243Ala)
|
rs376208769
|
0.00009
|
NM_006073.4(TRDN):c.884C>T (p.Pro295Leu)
|
rs201899630
|
0.00009
|
NM_006073.4(TRDN):c.932-11G>T
|
rs954424960
|
0.00009
|
NM_006888.6(CALM1):c.402C>T (p.Asp134=)
|
rs193072150
|
0.00009
|
NM_001035.3(RYR2):c.11092-11T>A
|
rs1040339463
|
0.00008
|
NM_001035.3(RYR2):c.11151A>G (p.Lys3717=)
|
rs748235560
|
0.00008
|
NM_001035.3(RYR2):c.12047T>A (p.Phe4016Tyr)
|
rs375021201
|
0.00008
|
NM_001035.3(RYR2):c.13080C>T (p.Ser4360=)
|
rs369964660
|
0.00008
|
NM_001035.3(RYR2):c.1318G>A (p.Ala440Thr)
|
rs371878264
|
0.00008
|
NM_001035.3(RYR2):c.13329-11T>G
|
rs778172821
|
0.00008
|
NM_001035.3(RYR2):c.13695C>T (p.Ser4565=)
|
rs377503418
|
0.00008
|
NM_001035.3(RYR2):c.13718G>A (p.Arg4573His)
|
rs371157286
|
0.00008
|
NM_001035.3(RYR2):c.1454G>A (p.Arg485Gln)
|
rs752144775
|
0.00008
|
NM_001035.3(RYR2):c.1561G>A (p.Glu521Lys)
|
rs759494098
|
0.00008
|
NM_001035.3(RYR2):c.3721G>A (p.Val1241Ile)
|
rs185715460
|
0.00008
|
NM_001035.3(RYR2):c.4101A>G (p.Lys1367=)
|
rs376792533
|
0.00008
|
NM_001035.3(RYR2):c.4735G>A (p.Val1579Met)
|
rs763389778
|
0.00008
|
NM_001035.3(RYR2):c.5790T>C (p.Asp1930=)
|
rs764867305
|
0.00008
|
NM_001035.3(RYR2):c.629C>T (p.Thr210Ile)
|
rs371086868
|
0.00008
|
NM_001035.3(RYR2):c.6445A>G (p.Ile2149Val)
|
rs767258350
|
0.00008
|
NM_001035.3(RYR2):c.684C>T (p.Leu228=)
|
rs72549417
|
0.00008
|
NM_001035.3(RYR2):c.7158C>T (p.Asn2386=)
|
rs376057173
|
0.00008
|
NM_001035.3(RYR2):c.7608T>C (p.Ala2536=)
|
rs367987360
|
0.00008
|
NM_001035.3(RYR2):c.9397A>G (p.Ile3133Val)
|
rs1032783973
|
0.00008
|
NM_001035.3(RYR2):c.9518C>T (p.Thr3173Ile)
|
rs746161154
|
0.00008
|
NM_001035.3(RYR2):c.9619A>G (p.Asn3207Asp)
|
rs372601642
|
0.00008
|
NM_001035.3(RYR2):c.9820A>G (p.Asn3274Asp)
|
rs751551400
|
0.00008
|
NM_001035.3(RYR2):c.9891G>A (p.Lys3297=)
|
rs368661838
|
0.00008
|
NM_001232.4(CASQ2):c.1015-3C>T
|
rs375320117
|
0.00008
|
NM_001232.4(CASQ2):c.748C>T (p.Arg250Cys)
|
rs151115064
|
0.00008
|
NM_001232.4(CASQ2):c.758G>A (p.Arg253His)
|
rs199571249
|
0.00008
|
NM_001232.4(CASQ2):c.774T>C (p.Phe258=)
|
rs181769947
|
0.00008
|
NM_001232.4(CASQ2):c.855G>C (p.Leu285=)
|
rs148562107
|
0.00008
|
NM_001232.4(CASQ2):c.860T>A (p.Ile287Asn)
|
rs368165922
|
0.00008
|
NM_006073.4(TRDN):c.1137T>G (p.Asp379Glu)
|
rs200706450
|
0.00008
|
NM_006073.4(TRDN):c.1576A>C (p.Ile526Leu)
|
rs375091695
|
0.00008
|
NM_006073.4(TRDN):c.1952-8C>T
|
rs188767077
|
0.00008
|
NM_001035.3(RYR2):c.10017C>T (p.His3339=)
|
rs376439588
|
0.00007
|
NM_001035.3(RYR2):c.1144G>A (p.Val382Met)
|
rs370057029
|
0.00007
|
NM_001035.3(RYR2):c.11766G>A (p.Glu3922=)
|
rs774625105
|
0.00007
|
NM_001035.3(RYR2):c.12291C>T (p.Asn4097=)
|
rs377313490
|
0.00007
|
NM_001035.3(RYR2):c.12669G>A (p.Lys4223=)
|
rs147887477
|
0.00007
|
NM_001035.3(RYR2):c.13329-3T>C
|
rs542440592
|
0.00007
|
NM_001035.3(RYR2):c.1396C>G (p.Pro466Ala)
|
rs376612295
|
0.00007
|
NM_001035.3(RYR2):c.1491C>T (p.Leu497=)
|
rs774279425
|
0.00007
|
NM_001035.3(RYR2):c.2104G>A (p.Gly702Arg)
|
rs569386030
|
0.00007
|
NM_001035.3(RYR2):c.51T>C (p.Asp17=)
|
rs373674802
|
0.00007
|
NM_001035.3(RYR2):c.5822G>A (p.Arg1941His)
|
rs373600053
|
0.00007
|
NM_001035.3(RYR2):c.7495G>A (p.Ala2499Thr)
|
rs191850147
|
0.00007
|
NM_001035.3(RYR2):c.8830+19T>C
|
rs770534794
|
0.00007
|
NM_001232.4(CASQ2):c.475G>A (p.Glu159Lys)
|
rs375598471
|
0.00007
|
NM_001232.4(CASQ2):c.503T>C (p.Ile168Thr)
|
rs148057999
|
0.00007
|
NM_001232.4(CASQ2):c.532+17C>A
|
rs768587375
|
0.00007
|
NM_006073.4(TRDN):c.1063G>T (p.Ala355Ser)
|
rs776657049
|
0.00007
|
NM_006073.4(TRDN):c.1187-3C>T
|
rs375421435
|
0.00007
|
NM_006073.4(TRDN):c.1673-8T>C
|
rs202183696
|
0.00007
|
NM_006073.4(TRDN):c.1801C>G (p.Pro601Ala)
|
rs376214235
|
0.00007
|
NM_006073.4(TRDN):c.1831+12C>A
|
rs368167703
|
0.00007
|
NM_006073.4(TRDN):c.1832-4C>A
|
rs539547575
|
0.00007
|
NM_006073.4(TRDN):c.728C>T (p.Thr243Ile)
|
rs769684583
|
0.00007
|
NM_001035.3(RYR2):c.10494+13T>G
|
rs796484463
|
0.00006
|
NM_001035.3(RYR2):c.10725+4A>T
|
rs116444428
|
0.00006
|
NM_001035.3(RYR2):c.10838+4G>A
|
rs776923037
|
0.00006
|
NM_001035.3(RYR2):c.11403-16T>C
|
rs560731755
|
0.00006
|
NM_001035.3(RYR2):c.11974A>C (p.Asn3992His)
|
rs781352451
|
0.00006
|
NM_001035.3(RYR2):c.12076T>G (p.Leu4026Val)
|
rs765141566
|
0.00006
|
NM_001035.3(RYR2):c.13206C>T (p.Leu4402=)
|
rs397516509
|
0.00006
|
NM_001035.3(RYR2):c.13237C>A (p.Pro4413Thr)
|
rs773441342
|
0.00006
|
NM_001035.3(RYR2):c.14310C>T (p.Thr4770=)
|
rs372967537
|
0.00006
|
NM_001035.3(RYR2):c.14658C>G (p.Thr4886=)
|
rs771308728
|
0.00006
|
NM_001035.3(RYR2):c.14808+17A>C
|
rs368520821
|
0.00006
|
NM_001035.3(RYR2):c.14844T>C (p.Cys4948=)
|
rs540984275
|
0.00006
|
NM_001035.3(RYR2):c.1511G>A (p.Arg504His)
|
rs201600087
|
0.00006
|
NM_001035.3(RYR2):c.1518C>T (p.His506=)
|
rs372620246
|
0.00006
|
NM_001035.3(RYR2):c.1962-12G>A
|
rs368241264
|
0.00006
|
NM_001035.3(RYR2):c.2045C>G (p.Thr682Arg)
|
rs377285489
|
0.00006
|
NM_001035.3(RYR2):c.2203+13C>T
|
rs183060058
|
0.00006
|
NM_001035.3(RYR2):c.2573C>T (p.Thr858Met)
|
rs377068202
|
0.00006
|
NM_001035.3(RYR2):c.2643A>C (p.Ile881=)
|
rs751869107
|
0.00006
|
NM_001035.3(RYR2):c.2717C>T (p.Pro906Leu)
|
rs397516522
|
0.00006
|
NM_001035.3(RYR2):c.273+12A>G
|
rs773831812
|
0.00006
|
NM_001035.3(RYR2):c.2772G>A (p.Leu924=)
|
rs780664060
|
0.00006
|
NM_001035.3(RYR2):c.3164G>A (p.Arg1055His)
|
rs757490010
|
0.00006
|
NM_001035.3(RYR2):c.3266G>A (p.Arg1089His)
|
rs552564367
|
0.00006
|
NM_001035.3(RYR2):c.3483C>T (p.Val1161=)
|
rs777622110
|
0.00006
|
NM_001035.3(RYR2):c.3507C>T (p.Asn1169=)
|
rs746106606
|
0.00006
|
NM_001035.3(RYR2):c.3836G>C (p.Ser1279Thr)
|
rs751419465
|
0.00006
|
NM_001035.3(RYR2):c.4143C>T (p.Pro1381=)
|
rs762991553
|
0.00006
|
NM_001035.3(RYR2):c.4488C>T (p.Pro1496=)
|
rs370082063
|
0.00006
|
NM_001035.3(RYR2):c.4596+4C>T
|
rs397516532
|
0.00006
|
NM_001035.3(RYR2):c.4683+9A>G
|
rs368678508
|
0.00006
|
NM_001035.3(RYR2):c.4695T>C (p.Pro1565=)
|
rs368826662
|
0.00006
|
NM_001035.3(RYR2):c.5253C>T (p.Ile1751=)
|
rs745565940
|
0.00006
|
NM_001035.3(RYR2):c.5614G>A (p.Asp1872Asn)
|
rs761770946
|
0.00006
|
NM_001035.3(RYR2):c.5835C>T (p.Asn1945=)
|
rs189299988
|
0.00006
|
NM_001035.3(RYR2):c.5916+10T>C
|
rs372125472
|
0.00006
|
NM_001035.3(RYR2):c.5917-12T>G
|
rs746414195
|
0.00006
|
NM_001035.3(RYR2):c.6166+8G>A
|
rs373112536
|
0.00006
|
NM_001035.3(RYR2):c.6320C>T (p.Thr2107Met)
|
rs370331492
|
0.00006
|
NM_001035.3(RYR2):c.6440+6T>C
|
rs775678664
|
0.00006
|
NM_001035.3(RYR2):c.6738G>T (p.Ser2246=)
|
rs368207198
|
0.00006
|
NM_001035.3(RYR2):c.7149C>T (p.His2383=)
|
rs183606632
|
0.00006
|
NM_001035.3(RYR2):c.7222-12T>C
|
rs540308433
|
0.00006
|
NM_001035.3(RYR2):c.7494G>A (p.Ala2498=)
|
rs533068485
|
0.00006
|
NM_001035.3(RYR2):c.7697G>A (p.Arg2566Gln)
|
rs532016557
|
0.00006
|
NM_001035.3(RYR2):c.76G>A (p.Ala26Thr)
|
rs368974917
|
0.00006
|
NM_001035.3(RYR2):c.7815G>A (p.Met2605Ile)
|
rs1244019330
|
0.00006
|
NM_001035.3(RYR2):c.8248T>A (p.Ser2750Thr)
|
rs547987180
|
0.00006
|
NM_001035.3(RYR2):c.8416C>T (p.Arg2806Cys)
|
rs727504134
|
0.00006
|
NM_001035.3(RYR2):c.8437-3T>C
|
rs924080705
|
0.00006
|
NM_001035.3(RYR2):c.848+8G>C
|
rs373075790
|
0.00006
|
NM_001035.3(RYR2):c.9450-9C>T
|
rs752779628
|
0.00006
|
NM_001035.3(RYR2):c.9569G>A (p.Arg3190Gln)
|
rs369276868
|
0.00006
|
NM_001035.3(RYR2):c.9672C>T (p.Ser3224=)
|
rs370740528
|
0.00006
|
NM_001232.4(CASQ2):c.1121A>G (p.Asp374Gly)
|
rs886045158
|
0.00006
|
NM_001232.4(CASQ2):c.1148A>G (p.Asp383Gly)
|
rs397516640
|
0.00006
|
NM_001232.4(CASQ2):c.270C>A (p.Gly90=)
|
rs72554056
|
0.00006
|
NM_006073.4(TRDN):c.1105G>A (p.Ala369Thr)
|
rs369198088
|
0.00006
|
NM_006073.4(TRDN):c.1106-8T>C
|
rs575469218
|
0.00006
|
NM_006073.4(TRDN):c.1832-15T>C
|
rs904511303
|
0.00006
|
NM_006073.4(TRDN):c.1975+8C>T
|
rs754046696
|
0.00006
|
NM_006073.4(TRDN):c.2084A>T (p.Asp695Val)
|
rs202040879
|
0.00006
|
NM_006073.4(TRDN):c.550G>T (p.Ala184Ser)
|
rs576028226
|
0.00006
|
NM_006073.4(TRDN):c.613C>T (p.Gln205Ter)
|
rs397515458
|
0.00006
|
NM_006073.4(TRDN):c.797A>G (p.Gln266Arg)
|
rs200068375
|
0.00006
|
NM_006888.6(CALM1):c.72C>T (p.Gly24=)
|
rs267607278
|
0.00006
|
NM_001035.3(RYR2):c.10293T>C (p.Leu3431=)
|
rs727505058
|
0.00005
|
NM_001035.3(RYR2):c.10699C>T (p.Arg3567Cys)
|
rs559154874
|
0.00005
|
NM_001035.3(RYR2):c.11206G>A (p.Ala3736Thr)
|
rs375095599
|
0.00005
|
NM_001035.3(RYR2):c.11418T>C (p.Asn3806=)
|
rs889979768
|
0.00005
|
NM_001035.3(RYR2):c.12189G>A (p.Thr4063=)
|
rs368948386
|
0.00005
|
NM_001035.3(RYR2):c.13600C>T (p.Pro4534Ser)
|
rs199624074
|
0.00005
|
NM_001035.3(RYR2):c.1973A>G (p.Asn658Ser)
|
rs2009813
|
0.00005
|
NM_001035.3(RYR2):c.2039A>G (p.Asp680Gly)
|
rs758835308
|
0.00005
|
NM_001035.3(RYR2):c.2410C>T (p.Leu804Phe)
|
rs577451406
|
0.00005
|
NM_001035.3(RYR2):c.4160+15C>T
|
rs376097712
|
0.00005
|
NM_001035.3(RYR2):c.5454T>C (p.Phe1818=)
|
rs201218861
|
0.00005
|
NM_001035.3(RYR2):c.5793T>G (p.Asp1931Glu)
|
rs372222227
|
0.00005
|
NM_001035.3(RYR2):c.594C>T (p.Asn198=)
|
rs727504676
|
0.00005
|
NM_001035.3(RYR2):c.8147A>T (p.Lys2716Ile)
|
rs749618476
|
0.00005
|
NM_001035.3(RYR2):c.815G>T (p.Arg272Leu)
|
rs377368967
|
0.00005
|
NM_001035.3(RYR2):c.8209-13G>C
|
rs759582222
|
0.00005
|
NM_001035.3(RYR2):c.9251G>A (p.Arg3084Gln)
|
rs747605864
|
0.00005
|
NM_001035.3(RYR2):c.9580+9G>A
|
rs767679867
|
0.00005
|
NM_001232.4(CASQ2):c.158G>T (p.Cys53Phe)
|
rs151168851
|
0.00005
|
NM_001232.4(CASQ2):c.173A>T (p.Glu58Val)
|
rs764732977
|
0.00005
|
NM_001232.4(CASQ2):c.897C>T (p.Pro299=)
|
rs752053912
|
0.00005
|
NM_001232.4(CASQ2):c.927C>T (p.Asp309=)
|
rs749266321
|
0.00005
|
NM_006073.4(TRDN):c.1276A>C (p.Thr426Pro)
|
rs1040336692
|
0.00005
|
NM_006073.4(TRDN):c.1361T>C (p.Val454Ala)
|
rs745960330
|
0.00005
|
NM_006073.4(TRDN):c.1471+5T>C
|
rs374426512
|
0.00005
|
NM_006073.4(TRDN):c.1537+17C>T
|
rs369584691
|
0.00005
|
NM_006073.4(TRDN):c.1864A>G (p.Ser622Gly)
|
rs577376276
|
0.00005
|
NM_006073.4(TRDN):c.224A>T (p.Asn75Ile)
|
rs368939536
|
0.00005
|
NM_006073.4(TRDN):c.484+6C>G
|
rs115773202
|
0.00005
|
NM_006073.4(TRDN):c.52G>C (p.Asp18His)
|
rs372554839
|
0.00005
|
NM_006073.4(TRDN):c.94C>T (p.Leu32=)
|
rs755548582
|
0.00005
|
NM_001035.3(RYR2):c.10035G>A (p.Arg3345=)
|
rs754976419
|
0.00004
|
NM_001035.3(RYR2):c.1005+7C>T
|
rs774100182
|
0.00004
|
NM_001035.3(RYR2):c.10452G>T (p.Gly3484=)
|
rs199498105
|
0.00004
|
NM_001035.3(RYR2):c.10495-14A>G
|
rs727505057
|
0.00004
|
NM_001035.3(RYR2):c.10640C>T (p.Thr3547Met)
|
rs552050895
|
0.00004
|
NM_001035.3(RYR2):c.1068C>T (p.Tyr356=)
|
rs776823422
|
0.00004
|
NM_001035.3(RYR2):c.11115C>T (p.Asp3705=)
|
rs752297019
|
0.00004
|
NM_001035.3(RYR2):c.11132T>A (p.Val3711Glu)
|
rs1036775644
|
0.00004
|
NM_001035.3(RYR2):c.11382C>T (p.Ala3794=)
|
rs760519786
|
0.00004
|
NM_001035.3(RYR2):c.11476+10A>C
|
rs794728702
|
0.00004
|
NM_001035.3(RYR2):c.11476+14dup
|
rs780419779
|
0.00004
|
NM_001035.3(RYR2):c.11557+15G>A
|
rs761490797
|
0.00004
|
NM_001035.3(RYR2):c.11647-16C>A
|
rs369311028
|
0.00004
|
NM_001035.3(RYR2):c.1207A>C (p.Ile403Leu)
|
rs142797573
|
0.00004
|
NM_001035.3(RYR2):c.12084G>A (p.Ser4028=)
|
rs751821960
|
0.00004
|
NM_001035.3(RYR2):c.12207T>C (p.Cys4069=)
|
rs756280887
|
0.00004
|
NM_001035.3(RYR2):c.12276G>A (p.Lys4092=)
|
rs974833291
|
0.00004
|
NM_001035.3(RYR2):c.12427A>C (p.Lys4143Gln)
|
rs750908017
|
0.00004
|
NM_001035.3(RYR2):c.1249C>G (p.Arg417Gly)
|
rs564822776
|
0.00004
|
NM_001035.3(RYR2):c.12541G>A (p.Gly4181Arg)
|
rs775477470
|
0.00004
|
NM_001035.3(RYR2):c.12664G>A (p.Glu4222Lys)
|
rs758453646
|
0.00004
|
NM_001035.3(RYR2):c.12837G>A (p.Met4279Ile)
|
rs750117613
|
0.00004
|
NM_001035.3(RYR2):c.12858C>T (p.Ser4286=)
|
rs185482345
|
0.00004
|
NM_001035.3(RYR2):c.12859T>C (p.Tyr4287His)
|
rs190009333
|
0.00004
|
NM_001035.3(RYR2):c.12944G>A (p.Gly4315Glu)
|
rs766109950
|
0.00004
|
NM_001035.3(RYR2):c.13249G>C (p.Glu4417Gln)
|
rs903232857
|
0.00004
|
NM_001035.3(RYR2):c.13254A>T (p.Lys4418Asn)
|
rs934659622
|
0.00004
|
NM_001035.3(RYR2):c.13293A>G (p.Glu4431=)
|
rs778248995
|
0.00004
|
NM_001035.3(RYR2):c.13398C>T (p.His4466=)
|
rs373913909
|
0.00004
|
NM_001035.3(RYR2):c.1358G>C (p.Ser453Thr)
|
rs761911597
|
0.00004
|
NM_001035.3(RYR2):c.13913+17A>G
|
rs371894104
|
0.00004
|
NM_001035.3(RYR2):c.147G>C (p.Leu49Phe)
|
rs727504508
|
0.00004
|
NM_001035.3(RYR2):c.14875C>T (p.Arg4959Trp)
|
rs755308070
|
0.00004
|
NM_001035.3(RYR2):c.1574C>G (p.Ser525Cys)
|
rs776188922
|
0.00004
|
NM_001035.3(RYR2):c.1838T>C (p.Val613Ala)
|
rs1057512489
|
0.00004
|
NM_001035.3(RYR2):c.2512C>G (p.Arg838Gly)
|
rs1407524067
|
0.00004
|
NM_001035.3(RYR2):c.2521A>G (p.Lys841Glu)
|
rs563091152
|
0.00004
|
NM_001035.3(RYR2):c.2545G>A (p.Asp849Asn)
|
rs372569289
|
0.00004
|
NM_001035.3(RYR2):c.2629C>T (p.His877Tyr)
|
rs372575878
|
0.00004
|
NM_001035.3(RYR2):c.2718+19T>C
|
rs773320230
|
0.00004
|
NM_001035.3(RYR2):c.294+15G>A
|
rs750047302
|
0.00004
|
NM_001035.3(RYR2):c.3025C>T (p.Arg1009Trp)
|
rs368040638
|
0.00004
|
NM_001035.3(RYR2):c.309G>A (p.Lys103=)
|
rs532274202
|
0.00004
|
NM_001035.3(RYR2):c.3372G>A (p.Pro1124=)
|
rs368017980
|
0.00004
|
NM_001035.3(RYR2):c.3397C>T (p.Arg1133Cys)
|
rs748085424
|
0.00004
|
NM_001035.3(RYR2):c.3423+10C>A
|
rs876657577
|
0.00004
|
NM_001035.3(RYR2):c.345C>T (p.Tyr115=)
|
rs397516525
|
0.00004
|
NM_001035.3(RYR2):c.3481G>C (p.Val1161Leu)
|
rs372761438
|
0.00004
|
NM_001035.3(RYR2):c.385-14T>C
|
rs372287944
|
0.00004
|
NM_001035.3(RYR2):c.3896T>C (p.Ile1299Thr)
|
rs772551383
|
0.00004
|
NM_001035.3(RYR2):c.3971G>C (p.Gly1324Ala)
|
rs773678614
|
0.00004
|
NM_001035.3(RYR2):c.4076T>C (p.Val1359Ala)
|
rs1005458283
|
0.00004
|
NM_001035.3(RYR2):c.4160+7A>G
|
rs377465289
|
0.00004
|
NM_001035.3(RYR2):c.463+18C>T
|
rs756719910
|
0.00004
|
NM_001035.3(RYR2):c.464-12G>A
|
rs766779504
|
0.00004
|
NM_001035.3(RYR2):c.4692G>A (p.Met1564Ile)
|
rs201675951
|
0.00004
|
NM_001035.3(RYR2):c.4707A>G (p.Gly1569=)
|
rs761012789
|
0.00004
|
NM_001035.3(RYR2):c.4875G>A (p.Leu1625=)
|
rs369323506
|
0.00004
|
NM_001035.3(RYR2):c.5004G>A (p.Gly1668=)
|
rs371085573
|
0.00004
|
NM_001035.3(RYR2):c.5238C>T (p.His1746=)
|
rs371966699
|
0.00004
|
NM_001035.3(RYR2):c.5494G>A (p.Gly1832Ser)
|
rs727504983
|
0.00004
|
NM_001035.3(RYR2):c.5508C>T (p.Asn1836=)
|
rs777640285
|
0.00004
|
NM_001035.3(RYR2):c.5515T>C (p.Leu1839=)
|
rs375521843
|
0.00004
|
NM_001035.3(RYR2):c.5550G>A (p.Val1850=)
|
rs764164889
|
0.00004
|
NM_001035.3(RYR2):c.5588C>T (p.Thr1863Met)
|
rs770863319
|
0.00004
|
NM_001035.3(RYR2):c.5593G>A (p.Glu1865Lys)
|
rs553819263
|
0.00004
|
NM_001035.3(RYR2):c.5637T>C (p.Gly1879=)
|
rs751554639
|
0.00004
|
NM_001035.3(RYR2):c.5662C>T (p.Arg1888Trp)
|
rs1006109370
|
0.00004
|
NM_001035.3(RYR2):c.5923A>G (p.Met1975Val)
|
rs200318013
|
0.00004
|
NM_001035.3(RYR2):c.601T>C (p.Leu201=)
|
rs752523583
|
0.00004
|
NM_001035.3(RYR2):c.6046T>A (p.Ser2016Thr)
|
rs575248331
|
0.00004
|
NM_001035.3(RYR2):c.6279C>T (p.Asp2093=)
|
rs771328006
|
0.00004
|
NM_001035.3(RYR2):c.6299G>A (p.Arg2100Gln)
|
rs796202631
|
0.00004
|
NM_001035.3(RYR2):c.6433G>C (p.Gly2145Arg)
|
rs587782974
|
0.00004
|
NM_001035.3(RYR2):c.677-13T>G
|
rs571476497
|
0.00004
|
NM_001035.3(RYR2):c.6780G>A (p.Pro2260=)
|
rs758855412
|
0.00004
|
NM_001035.3(RYR2):c.7076G>A (p.Arg2359Gln)
|
rs727504976
|
0.00004
|
NM_001035.3(RYR2):c.7201C>T (p.Arg2401Cys)
|
rs1321283106
|
0.00004
|
NM_001035.3(RYR2):c.7386A>G (p.Pro2462=)
|
rs546545700
|
0.00004
|
NM_001035.3(RYR2):c.7428T>C (p.Tyr2476=)
|
rs770823825
|
0.00004
|
NM_001035.3(RYR2):c.7459C>A (p.Leu2487Ile)
|
rs748581317
|
0.00004
|
NM_001035.3(RYR2):c.7539C>G (p.Ala2513=)
|
rs745761104
|
0.00004
|
NM_001035.3(RYR2):c.7569C>T (p.Ala2523=)
|
rs748943528
|
0.00004
|
NM_001035.3(RYR2):c.7623C>T (p.His2541=)
|
rs753435083
|
0.00004
|
NM_001035.3(RYR2):c.8181C>T (p.His2727=)
|
rs746562398
|
0.00004
|
NM_001035.3(RYR2):c.8309T>C (p.Ile2770Thr)
|
rs397516550
|
0.00004
|
NM_001035.3(RYR2):c.8436+15C>T
|
rs536793514
|
0.00004
|
NM_001035.3(RYR2):c.8591-8A>G
|
rs1369273531
|
0.00004
|
NM_001035.3(RYR2):c.9129-20C>G
|
rs770609583
|
0.00004
|
NM_001035.3(RYR2):c.9435T>C (p.Ser3145=)
|
rs774657844
|
0.00004
|
NM_001035.3(RYR2):c.9449+16G>A
|
rs765138478
|
0.00004
|
NM_001035.3(RYR2):c.9450-17G>A
|
rs575213280
|
0.00004
|
NM_001035.3(RYR2):c.950T>C (p.Met317Thr)
|
rs367601258
|
0.00004
|
NM_001035.3(RYR2):c.9736A>G (p.Met3246Val)
|
rs745839689
|
0.00004
|
NM_001035.3(RYR2):c.9783C>T (p.Ala3261=)
|
rs370556829
|
0.00004
|
NM_001035.3(RYR2):c.982G>A (p.Ala328Thr)
|
rs201669522
|
0.00004
|
NM_001232.4(CASQ2):c.376G>C (p.Asp126His)
|
rs727502908
|
0.00004
|
NM_001232.4(CASQ2):c.606+12T>C
|
rs763932609
|
0.00004
|
NM_001232.4(CASQ2):c.738-16_738-15insC
|
rs747358070
|
0.00004
|
NM_001232.4(CASQ2):c.751C>T (p.Arg251Cys)
|
rs781113955
|
0.00004
|
NM_001232.4(CASQ2):c.924G>A (p.Pro308=)
|
rs761798969
|
0.00004
|
NM_006073.4(TRDN):c.1011G>A (p.Lys337=)
|
rs886039062
|
0.00004
|
NM_006073.4(TRDN):c.1035T>C (p.Ile345=)
|
rs376370234
|
0.00004
|
NM_006073.4(TRDN):c.1136-1G>A
|
rs769776218
|
0.00004
|
NM_006073.4(TRDN):c.1156C>A (p.Pro386Thr)
|
rs555383967
|
0.00004
|
NM_006073.4(TRDN):c.1219+4A>G
|
rs189551080
|
0.00004
|
NM_006073.4(TRDN):c.1322-10T>A
|
rs764565579
|
0.00004
|
NM_006073.4(TRDN):c.1420+20A>G
|
rs1274691409
|
0.00004
|
NM_006073.4(TRDN):c.1568-4T>A
|
rs764779610
|
0.00004
|
NM_006073.4(TRDN):c.1589C>G (p.Ala530Gly)
|
rs367716594
|
0.00004
|
NM_006073.4(TRDN):c.1598-6T>G
|
rs554635684
|
0.00004
|
NM_006073.4(TRDN):c.1683T>C (p.Val561=)
|
rs777229118
|
0.00004
|
NM_006073.4(TRDN):c.1932A>G (p.Gln644=)
|
rs976397587
|
0.00004
|
NM_006073.4(TRDN):c.1967G>A (p.Arg656Lys)
|
rs1028703114
|
0.00004
|
NM_006073.4(TRDN):c.2131C>T (p.Arg711Cys)
|
rs373408498
|
0.00004
|
NM_006073.4(TRDN):c.2132G>A (p.Arg711His)
|
rs763375903
|
0.00004
|
NM_006073.4(TRDN):c.2135C>T (p.Pro712Leu)
|
rs761888858
|
0.00004
|
NM_006073.4(TRDN):c.2138G>A (p.Gly713Glu)
|
rs536487170
|
0.00004
|
NM_006073.4(TRDN):c.2179C>T (p.Gln727Ter)
|
rs201041981
|
0.00004
|
NM_006073.4(TRDN):c.348T>G (p.Ser116=)
|
rs746361154
|
0.00004
|
NM_006073.4(TRDN):c.352G>T (p.Asp118Tyr)
|
rs762075230
|
0.00004
|
NM_006073.4(TRDN):c.376G>A (p.Glu126Lys)
|
rs539743603
|
0.00004
|
NM_006073.4(TRDN):c.540T>C (p.Pro180=)
|
rs765743451
|
0.00004
|
NM_006073.4(TRDN):c.575A>C (p.Lys192Thr)
|
rs777796676
|
0.00004
|
NM_006073.4(TRDN):c.825C>T (p.Asp275=)
|
rs375079402
|
0.00004
|
NM_006073.4(TRDN):c.991G>A (p.Glu331Lys)
|
rs763851599
|
0.00004
|
NM_006888.6(CALM1):c.18C>T (p.Thr6=)
|
rs755065015
|
0.00004
|
NM_001035.3(RYR2):c.1024G>A (p.Val342Met)
|
rs371898166
|
0.00003
|
NM_001035.3(RYR2):c.10323+16G>A
|
rs961862052
|
0.00003
|
NM_001035.3(RYR2):c.10495-10T>C
|
rs750850264
|
0.00003
|
NM_001035.3(RYR2):c.10709G>A (p.Arg3570Gln)
|
rs751520590
|
0.00003
|
NM_001035.3(RYR2):c.10725+9A>C
|
rs747973819
|
0.00003
|
NM_001035.3(RYR2):c.1092A>C (p.Gln364His)
|
rs763183698
|
0.00003
|
NM_001035.3(RYR2):c.10936-13G>T
|
rs376086028
|
0.00003
|
NM_001035.3(RYR2):c.11208G>C (p.Ala3736=)
|
rs750384592
|
0.00003
|
NM_001035.3(RYR2):c.11497G>A (p.Asp3833Asn)
|
rs768711283
|
0.00003
|
NM_001035.3(RYR2):c.1154G>C (p.Gly385Ala)
|
rs373148638
|
0.00003
|
NM_001035.3(RYR2):c.1165C>T (p.Arg389Cys)
|
rs376135032
|
0.00003
|
NM_001035.3(RYR2):c.1171-14T>G
|
rs751389436
|
0.00003
|
NM_001035.3(RYR2):c.1172C>G (p.Ala391Gly)
|
rs374306538
|
0.00003
|
NM_001035.3(RYR2):c.11730C>T (p.Ile3910=)
|
rs764373699
|
0.00003
|
NM_001035.3(RYR2):c.11877G>A (p.Ser3959=)
|
rs754610647
|
0.00003
|
NM_001035.3(RYR2):c.11G>C (p.Gly4Ala)
|
rs866878858
|
0.00003
|
NM_001035.3(RYR2):c.12027C>T (p.Asn4009=)
|
rs763374929
|
0.00003
|
NM_001035.3(RYR2):c.12075T>C (p.Asp4025=)
|
rs570554092
|
0.00003
|
NM_001035.3(RYR2):c.12241G>A (p.Glu4081Lys)
|
rs763004638
|
0.00003
|
NM_001035.3(RYR2):c.1241G>A (p.Arg414His)
|
rs371121679
|
0.00003
|
NM_001035.3(RYR2):c.12540C>T (p.Gly4180=)
|
rs772125105
|
0.00003
|
NM_001035.3(RYR2):c.12658G>A (p.Glu4220Lys)
|
rs753433827
|
0.00003
|
NM_001035.3(RYR2):c.13044G>A (p.Glu4348=)
|
rs559197657
|
0.00003
|
NM_001035.3(RYR2):c.13175A>G (p.Lys4392Arg)
|
rs753733164
|
0.00003
|
NM_001035.3(RYR2):c.1324G>T (p.Ala442Ser)
|
rs747344666
|
0.00003
|
NM_001035.3(RYR2):c.13327G>A (p.Glu4443Lys)
|
rs1409192667
|
0.00003
|
NM_001035.3(RYR2):c.13406G>C (p.Arg4469Thr)
|
rs759882217
|
0.00003
|
NM_001035.3(RYR2):c.13593G>A (p.Lys4531=)
|
rs548313130
|
0.00003
|
NM_001035.3(RYR2):c.13666G>A (p.Ala4556Thr)
|
rs189345192
|
0.00003
|
NM_001035.3(RYR2):c.13672C>T (p.His4558Tyr)
|
rs773264033
|
0.00003
|
NM_001035.3(RYR2):c.14152-15G>A
|
rs371785571
|
0.00003
|
NM_001035.3(RYR2):c.14167G>A (p.Ala4723Thr)
|
rs397516514
|
0.00003
|
NM_001035.3(RYR2):c.14493C>T (p.Ile4831=)
|
rs375456172
|
0.00003
|
NM_001035.3(RYR2):c.14694C>T (p.Phe4898=)
|
rs542501813
|
0.00003
|
NM_001035.3(RYR2):c.1477-8C>T
|
rs876657575
|
0.00003
|
NM_001035.3(RYR2):c.1665C>T (p.Leu555=)
|
rs371262363
|
0.00003
|
NM_001035.3(RYR2):c.1674G>A (p.Leu558=)
|
rs1324895345
|
0.00003
|
NM_001035.3(RYR2):c.1773A>G (p.Glu591=)
|
rs1187362255
|
0.00003
|
NM_001035.3(RYR2):c.1779T>C (p.His593=)
|
rs551327128
|
0.00003
|
NM_001035.3(RYR2):c.1789A>G (p.Ile597Val)
|
rs770408945
|
0.00003
|
NM_001035.3(RYR2):c.1962-13C>T
|
rs549804448
|
0.00003
|
NM_001035.3(RYR2):c.2203+4C>T
|
rs371445192
|
0.00003
|
NM_001035.3(RYR2):c.2396+10T>C
|
rs745329806
|
0.00003
|
NM_001035.3(RYR2):c.2544C>T (p.Arg848=)
|
rs748097250
|
0.00003
|
NM_001035.3(RYR2):c.2617G>A (p.Val873Met)
|
rs369248015
|
0.00003
|
NM_001035.3(RYR2):c.274-3C>T
|
rs776347774
|
0.00003
|
NM_001035.3(RYR2):c.294+3A>G
|
rs1321804058
|
0.00003
|
NM_001035.3(RYR2):c.2951G>A (p.Ser984Asn)
|
rs730880188
|
0.00003
|
NM_001035.3(RYR2):c.295A>C (p.Lys99Gln)
|
rs1172697175
|
0.00003
|
NM_001035.3(RYR2):c.3214+7T>G
|
rs748941127
|
0.00003
|
NM_001035.3(RYR2):c.3243C>T (p.Thr1081=)
|
rs771680871
|
0.00003
|
NM_001035.3(RYR2):c.3270C>G (p.Ala1090=)
|
rs1344074824
|
0.00003
|
NM_001035.3(RYR2):c.3361G>C (p.Gly1121Arg)
|
rs199682282
|
0.00003
|
NM_001035.3(RYR2):c.336A>G (p.Thr112=)
|
rs536426427
|
0.00003
|
NM_001035.3(RYR2):c.3423+6T>G
|
rs1057521957
|
0.00003
|
NM_001035.3(RYR2):c.3460C>T (p.Arg1154Cys)
|
rs765617616
|
0.00003
|
NM_001035.3(RYR2):c.348A>G (p.Gly116=)
|
rs775744289
|
0.00003
|
NM_001035.3(RYR2):c.3660T>A (p.Asp1220Glu)
|
rs1019112544
|
0.00003
|
NM_001035.3(RYR2):c.3808-10C>T
|
rs779454549
|
0.00003
|
NM_001035.3(RYR2):c.3822C>T (p.Asp1274=)
|
rs761365777
|
0.00003
|
NM_001035.3(RYR2):c.3827C>T (p.Thr1276Ile)
|
rs762899950
|
0.00003
|
NM_001035.3(RYR2):c.385-17del
|
rs771168005
|
0.00003
|
NM_001035.3(RYR2):c.4276-16T>C
|
rs772146128
|
0.00003
|
NM_001035.3(RYR2):c.4410A>G (p.Gly1470=)
|
rs727503399
|
0.00003
|
NM_001035.3(RYR2):c.464-13C>T
|
rs372610981
|
0.00003
|
NM_001035.3(RYR2):c.4684-6C>T
|
rs755712032
|
0.00003
|
NM_001035.3(RYR2):c.4689G>A (p.Val1563=)
|
rs1259232031
|
0.00003
|
NM_001035.3(RYR2):c.4802A>G (p.Asn1601Ser)
|
rs1474971861
|
0.00003
|
NM_001035.3(RYR2):c.4829G>A (p.Arg1610Gln)
|
rs764687833
|
0.00003
|
NM_001035.3(RYR2):c.5001T>C (p.Leu1667=)
|
rs397516537
|
0.00003
|
NM_001035.3(RYR2):c.5011C>T (p.Arg1671Trp)
|
rs747404408
|
0.00003
|
NM_001035.3(RYR2):c.5021A>G (p.His1674Arg)
|
rs771414167
|
0.00003
|
NM_001035.3(RYR2):c.5066T>C (p.Ile1689Thr)
|
rs763907583
|
0.00003
|
NM_001035.3(RYR2):c.5169C>T (p.Asn1723=)
|
rs772441741
|
0.00003
|
NM_001035.3(RYR2):c.5278C>T (p.Arg1760Trp)
|
rs776550479
|
0.00003
|
NM_001035.3(RYR2):c.5371A>G (p.Thr1791Ala)
|
rs1025023837
|
0.00003
|
NM_001035.3(RYR2):c.5570C>T (p.Pro1857Leu)
|
rs568198475
|
0.00003
|
NM_001035.3(RYR2):c.5761C>T (p.Arg1921Trp)
|
rs760010432
|
0.00003
|
NM_001035.3(RYR2):c.5762G>A (p.Arg1921Gln)
|
rs370568809
|
0.00003
|
NM_001035.3(RYR2):c.5774T>C (p.Ile1925Thr)
|
rs761505396
|
0.00003
|
NM_001035.3(RYR2):c.6158A>G (p.Lys2053Arg)
|
rs771590345
|
0.00003
|
NM_001035.3(RYR2):c.6172C>T (p.Leu2058=)
|
rs756447467
|
0.00003
|
NM_001035.3(RYR2):c.6232C>T (p.Pro2078Ser)
|
rs780993255
|
0.00003
|
NM_001035.3(RYR2):c.6441-15C>T
|
rs747176905
|
0.00003
|
NM_001035.3(RYR2):c.6627G>A (p.Gln2209=)
|
rs373686520
|
0.00003
|
NM_001035.3(RYR2):c.6772C>T (p.Arg2258Cys)
|
rs757350594
|
0.00003
|
NM_001035.3(RYR2):c.6936T>C (p.Ser2312=)
|
rs1282237936
|
0.00003
|
NM_001035.3(RYR2):c.708G>A (p.Leu236=)
|
rs773746218
|
0.00003
|
NM_001035.3(RYR2):c.7098C>T (p.Ser2366=)
|
rs375631485
|
0.00003
|
NM_001035.3(RYR2):c.719A>G (p.His240Arg)
|
rs369512347
|
0.00003
|
NM_001035.3(RYR2):c.7342+4A>T
|
rs771358777
|
0.00003
|
NM_001035.3(RYR2):c.7354G>A (p.Val2452Met)
|
rs377136047
|
0.00003
|
NM_001035.3(RYR2):c.7493C>T (p.Ala2498Val)
|
rs374191985
|
0.00003
|
NM_001035.3(RYR2):c.7512+13C>T
|
rs777383641
|
0.00003
|
NM_001035.3(RYR2):c.7624G>T (p.Ala2542Ser)
|
rs373602064
|
0.00003
|
NM_001035.3(RYR2):c.8041A>T (p.Met2681Leu)
|
rs768547151
|
0.00003
|
NM_001035.3(RYR2):c.8209-12C>A
|
rs767601681
|
0.00003
|
NM_001035.3(RYR2):c.8209-4T>C
|
rs371966353
|
0.00003
|
NM_001035.3(RYR2):c.8262G>C (p.Gln2754His)
|
rs773748242
|
0.00003
|
NM_001035.3(RYR2):c.837G>A (p.Thr279=)
|
rs769682840
|
0.00003
|
NM_001035.3(RYR2):c.8436+9T>G
|
rs371760672
|
0.00003
|
NM_001035.3(RYR2):c.849-13C>T
|
rs757524222
|
0.00003
|
NM_001035.3(RYR2):c.8515-7A>G
|
rs766622060
|
0.00003
|
NM_001035.3(RYR2):c.8913T>C (p.Ile2971=)
|
rs755520825
|
0.00003
|
NM_001035.3(RYR2):c.8936G>A (p.Arg2979His)
|
rs753179691
|
0.00003
|
NM_001035.3(RYR2):c.9018-11T>C
|
rs781149223
|
0.00003
|
NM_001035.3(RYR2):c.9189C>T (p.Asn3063=)
|
rs531651646
|
0.00003
|
NM_001035.3(RYR2):c.926T>C (p.Met309Thr)
|
rs542853582
|
0.00003
|
NM_001035.3(RYR2):c.9418T>G (p.Leu3140Val)
|
rs796586893
|
0.00003
|
NM_001035.3(RYR2):c.9441C>T (p.Tyr3147=)
|
rs760338814
|
0.00003
|
NM_001035.3(RYR2):c.953A>G (p.Asp318Gly)
|
rs1268335647
|
0.00003
|
NM_001035.3(RYR2):c.9755A>G (p.His3252Arg)
|
rs760379293
|
0.00003
|
NM_001035.3(RYR2):c.9996G>A (p.Thr3332=)
|
rs760131228
|
0.00003
|
NM_001232.4(CASQ2):c.1097T>C (p.Leu366Pro)
|
rs762153545
|
0.00003
|
NM_001232.4(CASQ2):c.1188T>C (p.Asp396=)
|
rs751885773
|
0.00003
|
NM_001232.4(CASQ2):c.141G>C (p.Lys47Asn)
|
rs1553197917
|
0.00003
|
NM_001232.4(CASQ2):c.175C>T (p.Pro59Ser)
|
rs866858282
|
0.00003
|
NM_001232.4(CASQ2):c.234+3A>G
|
rs727502909
|
0.00003
|
NM_001232.4(CASQ2):c.421-7A>T
|
rs776008006
|
0.00003
|
NM_001232.4(CASQ2):c.491A>G (p.Tyr164Cys)
|
rs72554062
|
0.00003
|
NM_001232.4(CASQ2):c.627G>A (p.Leu209=)
|
rs1291884749
|
0.00003
|
NM_001232.4(CASQ2):c.650A>G (p.Tyr217Cys)
|
rs373227317
|
0.00003
|
NM_001232.4(CASQ2):c.681C>T (p.Ile227=)
|
rs769189583
|
0.00003
|
NM_001232.4(CASQ2):c.752G>A (p.Arg251His)
|
rs200265771
|
0.00003
|
NM_001232.4(CASQ2):c.878G>A (p.Arg293Gln)
|
rs377691566
|
0.00003
|
NM_001232.4(CASQ2):c.923C>T (p.Pro308Leu)
|
rs139228801
|
0.00003
|
NM_001232.4(CASQ2):c.943G>A (p.Val315Ile)
|
rs771188512
|
0.00003
|
NM_001232.4(CASQ2):c.979T>C (p.Phe327Leu)
|
rs976749091
|
0.00003
|
NM_006073.4(TRDN):c.1019A>G (p.Glu340Gly)
|
rs745751151
|
0.00003
|
NM_006073.4(TRDN):c.1186+13A>T
|
rs374832854
|
0.00003
|
NM_006073.4(TRDN):c.126G>A (p.Thr42=)
|
rs774324909
|
0.00003
|
NM_006073.4(TRDN):c.1273+16T>C
|
rs1055067085
|
0.00003
|
NM_006073.4(TRDN):c.1321+15A>G
|
rs373855431
|
0.00003
|
NM_006073.4(TRDN):c.1369+9A>G
|
rs373926690
|
0.00003
|
NM_006073.4(TRDN):c.1420+1G>T
|
rs1375657667
|
0.00003
|
NM_006073.4(TRDN):c.1420+7G>A
|
rs1468907376
|
0.00003
|
NM_006073.4(TRDN):c.1421-20T>C
|
rs1018226745
|
0.00003
|
NM_006073.4(TRDN):c.1601T>G (p.Ile534Arg)
|
rs926868398
|
0.00003
|
NM_006073.4(TRDN):c.1651A>G (p.Thr551Ala)
|
rs1304157111
|
0.00003
|
NM_006073.4(TRDN):c.1672+8G>T
|
rs372811049
|
0.00003
|
NM_006073.4(TRDN):c.1708A>G (p.Ile570Val)
|
rs915231524
|
0.00003
|
NM_006073.4(TRDN):c.1733C>A (p.Pro578Gln)
|
rs761240477
|
0.00003
|
NM_006073.4(TRDN):c.1754G>A (p.Arg585Gln)
|
rs199986608
|
0.00003
|
NM_006073.4(TRDN):c.1783G>A (p.Asp595Asn)
|
rs771170294
|
0.00003
|
NM_006073.4(TRDN):c.196G>T (p.Val66Phe)
|
rs372169818
|
0.00003
|
NM_006073.4(TRDN):c.2050+16G>A
|
rs543899749
|
0.00003
|
NM_006073.4(TRDN):c.2073T>C (p.Cys691=)
|
rs776628762
|
0.00003
|
NM_006073.4(TRDN):c.2143A>G (p.Ser715Gly)
|
rs768748530
|
0.00003
|
NM_006073.4(TRDN):c.22+29A>G
|
rs774068079
|
0.00003
|
NM_006073.4(TRDN):c.22+8T>C
|
rs754212646
|
0.00003
|
NM_006073.4(TRDN):c.25A>G (p.Asn9Asp)
|
rs768303943
|
0.00003
|
NM_006073.4(TRDN):c.32C>T (p.Ser11Phe)
|
rs760549842
|
0.00003
|
NM_006073.4(TRDN):c.46G>C (p.Val16Leu)
|
rs974343553
|
0.00003
|
NM_006073.4(TRDN):c.610+20T>G
|
rs1236681855
|
0.00003
|
NM_006073.4(TRDN):c.611-10C>T
|
rs908084983
|
0.00003
|
NM_006073.4(TRDN):c.611-14T>A
|
rs181140338
|
0.00003
|
NM_006073.4(TRDN):c.931+19C>T
|
rs1319851680
|
0.00003
|
NM_001035.3(RYR2):c.10059C>A (p.Leu3353=)
|
rs370015676
|
0.00002
|
NM_001035.3(RYR2):c.1022G>C (p.Gly341Ala)
|
rs565413020
|
0.00002
|
NM_001035.3(RYR2):c.10258G>A (p.Val3420Ile)
|
rs397516497
|
0.00002
|
NM_001035.3(RYR2):c.10260T>C (p.Val3420=)
|
rs778112871
|
0.00002
|
NM_001035.3(RYR2):c.10360C>T (p.Arg3454Cys)
|
rs773252606
|
0.00002
|
NM_001035.3(RYR2):c.10373G>A (p.Arg3458Gln)
|
rs762944627
|
0.00002
|
NM_001035.3(RYR2):c.10444G>A (p.Ala3482Thr)
|
rs757656504
|
0.00002
|
NM_001035.3(RYR2):c.10517G>A (p.Arg3506Gln)
|
rs748805290
|
0.00002
|
NM_001035.3(RYR2):c.10557G>T (p.Leu3519Phe)
|
rs558910032
|
0.00002
|
NM_001035.3(RYR2):c.1066T>C (p.Tyr356His)
|
rs794728718
|
0.00002
|
NM_001035.3(RYR2):c.10708C>T (p.Arg3570Trp)
|
rs765835441
|
0.00002
|
NM_001035.3(RYR2):c.11018G>A (p.Arg3673Gln)
|
rs778111237
|
0.00002
|
NM_001035.3(RYR2):c.11039+7T>C
|
rs569571855
|
0.00002
|
NM_001035.3(RYR2):c.11090A>G (p.Lys3697Arg)
|
rs754610757
|
0.00002
|
NM_001035.3(RYR2):c.11208G>A (p.Ala3736=)
|
rs750384592
|
0.00002
|
NM_001035.3(RYR2):c.1166G>A (p.Arg389His)
|
rs200685968
|
0.00002
|
NM_001035.3(RYR2):c.1171-11C>T
|
rs200226512
|
0.00002
|
NM_001035.3(RYR2):c.11963-4C>T
|
rs747161273
|
0.00002
|
NM_001035.3(RYR2):c.11982G>A (p.Thr3994=)
|
rs368634803
|
0.00002
|
NM_001035.3(RYR2):c.12039T>C (p.Ile4013=)
|
rs775228348
|
0.00002
|
NM_001035.3(RYR2):c.12091A>G (p.Thr4031Ala)
|
rs755148895
|
0.00002
|
NM_001035.3(RYR2):c.12111C>T (p.Pro4037=)
|
rs770463326
|
0.00002
|
NM_001035.3(RYR2):c.12160A>G (p.Ser4054Gly)
|
rs376781046
|
0.00002
|
NM_001035.3(RYR2):c.1217C>T (p.Ser406Leu)
|
rs759830423
|
0.00002
|
NM_001035.3(RYR2):c.12215C>T (p.Thr4072Met)
|
rs928224285
|
0.00002
|
NM_001035.3(RYR2):c.12282C>T (p.Ile4094=)
|
rs764339831
|
0.00002
|
NM_001035.3(RYR2):c.12331A>C (p.Asn4111His)
|
rs192890834
|
0.00002
|
NM_001035.3(RYR2):c.12552G>A (p.Glu4184=)
|
rs1300867476
|
0.00002
|
NM_001035.3(RYR2):c.12579C>T (p.Cys4193=)
|
rs369532267
|
0.00002
|
NM_001035.3(RYR2):c.12648G>A (p.Ala4216=)
|
rs781557399
|
0.00002
|
NM_001035.3(RYR2):c.12674G>A (p.Arg4225Lys)
|
rs1223110750
|
0.00002
|
NM_001035.3(RYR2):c.12865A>G (p.Ser4289Gly)
|
rs1386632671
|
0.00002
|
NM_001035.3(RYR2):c.12957C>T (p.Val4319=)
|
rs727504438
|
0.00002
|
NM_001035.3(RYR2):c.13195A>G (p.Asn4399Asp)
|
rs764884250
|
0.00002
|
NM_001035.3(RYR2):c.1319C>T (p.Ala440Val)
|
rs758904216
|
0.00002
|
NM_001035.3(RYR2):c.13411G>A (p.Gly4471Arg)
|
rs794728797
|
0.00002
|
NM_001035.3(RYR2):c.13477-18A>G
|
rs1381666659
|
0.00002
|
NM_001035.3(RYR2):c.1354G>A (p.Val452Ile)
|
rs375218751
|
0.00002
|
NM_001035.3(RYR2):c.13563+4C>T
|
rs926460699
|
0.00002
|
NM_001035.3(RYR2):c.13635A>T (p.Thr4545=)
|
rs779762647
|
0.00002
|
NM_001035.3(RYR2):c.13712C>T (p.Thr4571Met)
|
rs200803276
|
0.00002
|
NM_001035.3(RYR2):c.14019C>T (p.Asp4673=)
|
rs1303103945
|
0.00002
|
NM_001035.3(RYR2):c.1404G>A (p.Glu468=)
|
rs768538183
|
0.00002
|
NM_001035.3(RYR2):c.14090+19C>T
|
rs534019715
|
0.00002
|
NM_001035.3(RYR2):c.14151+14A>G
|
rs1451364457
|
0.00002
|
NM_001035.3(RYR2):c.143T>C (p.Phe48Ser)
|
rs774559907
|
0.00002
|
NM_001035.3(RYR2):c.14406A>G (p.Pro4802=)
|
rs767234031
|
0.00002
|
NM_001035.3(RYR2):c.14434-14T>A
|
rs1490862924
|
0.00002
|
NM_001035.3(RYR2):c.1464C>T (p.Leu488=)
|
rs755432808
|
0.00002
|
NM_001035.3(RYR2):c.14721C>T (p.Thr4907=)
|
rs766261818
|
0.00002
|
NM_001035.3(RYR2):c.1476+3C>T
|
rs1387762631
|
0.00002
|
NM_001035.3(RYR2):c.14808+13T>A
|
rs747353568
|
0.00002
|
NM_001035.3(RYR2):c.14808+15A>G
|
rs769022695
|
0.00002
|
NM_001035.3(RYR2):c.14871C>T (p.Cys4957=)
|
rs752034170
|
0.00002
|
NM_001035.3(RYR2):c.14896C>T (p.Leu4966=)
|
rs368031082
|
0.00002
|
NM_001035.3(RYR2):c.1612+8G>A
|
rs375122829
|
0.00002
|
NM_001035.3(RYR2):c.1613C>T (p.Ala538Val)
|
rs1461019181
|
0.00002
|
NM_001035.3(RYR2):c.1614G>A (p.Ala538=)
|
rs566885717
|
0.00002
|
NM_001035.3(RYR2):c.1675A>G (p.Ile559Val)
|
rs773609522
|
0.00002
|
NM_001035.3(RYR2):c.1707A>G (p.Ser569=)
|
rs757215216
|
0.00002
|
NM_001035.3(RYR2):c.1709-4T>C
|
rs1482457874
|
0.00002
|
NM_001035.3(RYR2):c.1828-10C>A
|
rs755233180
|
0.00002
|
NM_001035.3(RYR2):c.186C>T (p.Leu62=)
|
rs754375280
|
0.00002
|
NM_001035.3(RYR2):c.1940G>A (p.Arg647His)
|
rs766330093
|
0.00002
|
NM_001035.3(RYR2):c.2029T>A (p.Leu677Met)
|
rs750815004
|
0.00002
|
NM_001035.3(RYR2):c.2130C>T (p.Gly710=)
|
rs536694711
|
0.00002
|
NM_001035.3(RYR2):c.2251A>G (p.Thr751Ala)
|
rs878854154
|
0.00002
|
NM_001035.3(RYR2):c.232C>T (p.Leu78=)
|
rs1454549719
|
0.00002
|
NM_001035.3(RYR2):c.2360T>G (p.Leu787Arg)
|
rs1251442610
|
0.00002
|
NM_001035.3(RYR2):c.2374G>A (p.Val792Ile)
|
rs764485892
|
0.00002
|
NM_001035.3(RYR2):c.2397-12C>T
|
rs754549931
|
0.00002
|
NM_001035.3(RYR2):c.2506C>A (p.His836Asn)
|
rs760544949
|
0.00002
|
NM_001035.3(RYR2):c.2615T>C (p.Ile872Thr)
|
rs749607906
|
0.00002
|
NM_001035.3(RYR2):c.273+9C>T
|
rs770574179
|
0.00002
|
NM_001035.3(RYR2):c.3093C>T (p.Arg1031=)
|
rs775738392
|
0.00002
|
NM_001035.3(RYR2):c.3163C>T (p.Arg1055Cys)
|
rs754181384
|
0.00002
|
NM_001035.3(RYR2):c.3168G>A (p.Thr1056=)
|
rs1183058696
|
0.00002
|
NM_001035.3(RYR2):c.3180C>T (p.Tyr1060=)
|
rs398123540
|
0.00002
|
NM_001035.3(RYR2):c.322G>A (p.Gly108Ser)
|
rs1431073529
|
0.00002
|
NM_001035.3(RYR2):c.3237C>T (p.Ser1079=)
|
rs770116364
|
0.00002
|
NM_001035.3(RYR2):c.3461G>A (p.Arg1154His)
|
rs530867686
|
0.00002
|
NM_001035.3(RYR2):c.3484G>A (p.Val1162Met)
|
rs377030538
|
0.00002
|
NM_001035.3(RYR2):c.364C>T (p.Arg122Cys)
|
rs397516527
|
0.00002
|
NM_001035.3(RYR2):c.36G>C (p.Gln12His)
|
rs746811389
|
0.00002
|
NM_001035.3(RYR2):c.372C>G (p.Ser124=)
|
rs1478989523
|
0.00002
|
NM_001035.3(RYR2):c.384+11_384+12del
|
rs773309544
|
0.00002
|
NM_001035.3(RYR2):c.3877C>G (p.Gln1293Glu)
|
rs962100875
|
0.00002
|
NM_001035.3(RYR2):c.3921G>A (p.Pro1307=)
|
rs201469656
|
0.00002
|
NM_001035.3(RYR2):c.3933G>A (p.Ala1311=)
|
rs573948177
|
0.00002
|
NM_001035.3(RYR2):c.3978C>G (p.Gly1326=)
|
rs745839967
|
0.00002
|
NM_001035.3(RYR2):c.40C>T (p.Leu14=)
|
rs878854156
|
0.00002
|
NM_001035.3(RYR2):c.4148G>A (p.Arg1383His)
|
rs752124839
|
0.00002
|
NM_001035.3(RYR2):c.4160+16G>A
|
rs587781142
|
0.00002
|
NM_001035.3(RYR2):c.4161-5T>C
|
rs1416816823
|
0.00002
|
NM_001035.3(RYR2):c.4329G>A (p.Val1443=)
|
rs397516531
|
0.00002
|
NM_001035.3(RYR2):c.4489G>A (p.Gly1497Arg)
|
rs748678280
|
0.00002
|
NM_001035.3(RYR2):c.453G>A (p.Glu151=)
|
rs541334277
|
0.00002
|
NM_001035.3(RYR2):c.458C>T (p.Thr153Ile)
|
rs766802574
|
0.00002
|
NM_001035.3(RYR2):c.4596+6C>T
|
rs766080208
|
0.00002
|
NM_001035.3(RYR2):c.4603C>T (p.Pro1535Ser)
|
rs1376021262
|
0.00002
|
NM_001035.3(RYR2):c.463+7A>G
|
rs755850445
|
0.00002
|
NM_001035.3(RYR2):c.464-17T>C
|
rs1424840637
|
0.00002
|
NM_001035.3(RYR2):c.4684-15C>T
|
rs201780507
|
0.00002
|
NM_001035.3(RYR2):c.469G>T (p.Ala157Ser)
|
rs753443369
|
0.00002
|
NM_001035.3(RYR2):c.4733C>G (p.Pro1578Arg)
|
rs765351308
|
0.00002
|
NM_001035.3(RYR2):c.4852T>C (p.Leu1618=)
|
rs780985525
|
0.00002
|
NM_001035.3(RYR2):c.4899T>C (p.Pro1633=)
|
rs1060503853
|
0.00002
|
NM_001035.3(RYR2):c.4917T>C (p.Val1639=)
|
rs1060503850
|
0.00002
|
NM_001035.3(RYR2):c.5006A>G (p.Asn1669Ser)
|
rs727503400
|
0.00002
|
NM_001035.3(RYR2):c.5096G>A (p.Arg1699His)
|
rs779464111
|
0.00002
|
NM_001035.3(RYR2):c.5181C>A (p.Val1727=)
|
rs776534086
|
0.00002
|
NM_001035.3(RYR2):c.5199G>A (p.Thr1733=)
|
rs758505260
|
0.00002
|
NM_001035.3(RYR2):c.5254G>A (p.Gly1752Ser)
|
rs771662129
|
0.00002
|
NM_001035.3(RYR2):c.5428G>C (p.Val1810Leu)
|
rs754364233
|
0.00002
|
NM_001035.3(RYR2):c.5509G>A (p.Glu1837Lys)
|
rs749184443
|
0.00002
|
NM_001035.3(RYR2):c.5517G>A (p.Leu1839=)
|
rs369835453
|
0.00002
|
NM_001035.3(RYR2):c.556G>A (p.Val186Met)
|
rs201211033
|
0.00002
|
NM_001035.3(RYR2):c.5574G>A (p.Glu1858=)
|
rs752393757
|
0.00002
|
NM_001035.3(RYR2):c.5602C>A (p.Leu1868Ile)
|
rs768636940
|
0.00002
|
NM_001035.3(RYR2):c.5671G>A (p.Glu1891Lys)
|
rs1224597817
|
0.00002
|
NM_001035.3(RYR2):c.5715+8G>A
|
rs763395468
|
0.00002
|
NM_001035.3(RYR2):c.5801C>T (p.Ala1934Val)
|
rs368009389
|
0.00002
|
NM_001035.3(RYR2):c.5825T>G (p.Phe1942Cys)
|
rs397516546
|
0.00002
|
NM_001035.3(RYR2):c.5917A>G (p.Ile1973Val)
|
rs780681855
|
0.00002
|
NM_001035.3(RYR2):c.6006T>C (p.Asp2002=)
|
rs1234291975
|
0.00002
|
NM_001035.3(RYR2):c.6013A>G (p.Thr2005Ala)
|
rs373235823
|
0.00002
|
NM_001035.3(RYR2):c.6083G>A (p.Arg2028His)
|
rs1313042151
|
0.00002
|
NM_001035.3(RYR2):c.6234C>T (p.Pro2078=)
|
rs748063607
|
0.00002
|
NM_001035.3(RYR2):c.6254T>C (p.Phe2085Ser)
|
rs762814340
|
0.00002
|
NM_001035.3(RYR2):c.6284T>C (p.Ile2095Thr)
|
rs142498105
|
0.00002
|
NM_001035.3(RYR2):c.6495G>A (p.Leu2165=)
|
rs1328477417
|
0.00002
|
NM_001035.3(RYR2):c.6537T>G (p.Leu2179=)
|
rs1450139846
|
0.00002
|
NM_001035.3(RYR2):c.6726G>A (p.Val2242=)
|
rs767246962
|
0.00002
|
NM_001035.3(RYR2):c.676+18A>G
|
rs1173261409
|
0.00002
|
NM_001035.3(RYR2):c.6793-12T>C
|
rs180775271
|
0.00002
|
NM_001035.3(RYR2):c.6800G>A (p.Arg2267His)
|
rs759012078
|
0.00002
|
NM_001035.3(RYR2):c.7060G>T (p.Ala2354Ser)
|
rs773070579
|
0.00002
|
NM_001035.3(RYR2):c.7063G>A (p.Glu2355Lys)
|
rs754990305
|
0.00002
|
NM_001035.3(RYR2):c.7115+20C>G
|
rs373092652
|
0.00002
|
NM_001035.3(RYR2):c.7284C>T (p.Pro2428=)
|
rs563608396
|
0.00002
|
NM_001035.3(RYR2):c.7315G>A (p.Ala2439Thr)
|
rs367818536
|
0.00002
|
NM_001035.3(RYR2):c.7329A>G (p.Pro2443=)
|
rs375553387
|
0.00002
|
NM_001035.3(RYR2):c.7375G>A (p.Gly2459Arg)
|
rs1481363942
|
0.00002
|
NM_001035.3(RYR2):c.7458T>G (p.His2486Gln)
|
rs377763795
|
0.00002
|
NM_001035.3(RYR2):c.782A>G (p.His261Arg)
|
rs577416427
|
0.00002
|
NM_001035.3(RYR2):c.7965+16G>A
|
rs1242583907
|
0.00002
|
NM_001035.3(RYR2):c.8013A>G (p.Ala2671=)
|
rs1237709417
|
0.00002
|
NM_001035.3(RYR2):c.8018C>T (p.Ala2673Val)
|
rs869025513
|
0.00002
|
NM_001035.3(RYR2):c.8130T>G (p.Asn2710Lys)
|
rs876661388
|
0.00002
|
NM_001035.3(RYR2):c.8205C>A (p.Asp2735Glu)
|
rs794728823
|
0.00002
|
NM_001035.3(RYR2):c.8357G>C (p.Gly2786Ala)
|
rs1060500149
|
0.00002
|
NM_001035.3(RYR2):c.8398C>G (p.Leu2800Val)
|
rs1060500143
|
0.00002
|
NM_001035.3(RYR2):c.8407C>T (p.Arg2803Trp)
|
rs754674622
|
0.00002
|
NM_001035.3(RYR2):c.8408G>A (p.Arg2803Gln)
|
rs780643623
|
0.00002
|
NM_001035.3(RYR2):c.8449G>A (p.Ala2817Thr)
|
rs527576067
|
0.00002
|
NM_001035.3(RYR2):c.8470C>T (p.Arg2824Trp)
|
rs796052204
|
0.00002
|
NM_001035.3(RYR2):c.8590+18C>T
|
rs376966521
|
0.00002
|
NM_001035.3(RYR2):c.8696A>G (p.Asn2899Ser)
|
rs1057524444
|
0.00002
|
NM_001035.3(RYR2):c.8742G>A (p.Thr2914=)
|
rs751520306
|
0.00002
|
NM_001035.3(RYR2):c.8749A>G (p.Ile2917Val)
|
rs981753891
|
0.00002
|
NM_001035.3(RYR2):c.8798T>G (p.Val2933Gly)
|
rs550691734
|
0.00002
|
NM_001035.3(RYR2):c.8876A>C (p.Glu2959Ala)
|
rs536037366
|
0.00002
|
NM_001035.3(RYR2):c.8896-14T>C
|
rs761596075
|
0.00002
|
NM_001035.3(RYR2):c.9085A>G (p.Ile3029Val)
|
rs370141970
|
0.00002
|
NM_001035.3(RYR2):c.9094T>G (p.Cys3032Gly)
|
rs193007458
|
0.00002
|
NM_001035.3(RYR2):c.9259C>T (p.Pro3087Ser)
|
rs777736127
|
0.00002
|
NM_001035.3(RYR2):c.9442G>A (p.Val3148Met)
|
rs876657994
|
0.00002
|
NM_001035.3(RYR2):c.9561G>C (p.Lys3187Asn)
|
rs1060500168
|
0.00002
|
NM_001035.3(RYR2):c.9585C>T (p.Leu3195=)
|
rs747861813
|
0.00002
|
NM_001035.3(RYR2):c.9641T>A (p.Leu3214His)
|
rs752385143
|
0.00002
|
NM_001035.3(RYR2):c.9673G>A (p.Gly3225Ser)
|
rs780484631
|
0.00002
|
NM_001035.3(RYR2):c.9738G>A (p.Met3246Ile)
|
rs771846177
|
0.00002
|
NM_001035.3(RYR2):c.9743G>A (p.Arg3248His)
|
rs1041429670
|
0.00002
|
NM_001232.4(CASQ2):c.1046A>T (p.Asp349Val)
|
rs372865933
|
0.00002
|
NM_001232.4(CASQ2):c.1074G>A (p.Leu358=)
|
rs753872950
|
0.00002
|
NM_001232.4(CASQ2):c.114C>T (p.Ser38=)
|
rs571353035
|
0.00002
|
NM_001232.4(CASQ2):c.164A>G (p.Tyr55Cys)
|
rs1436844070
|
0.00002
|
NM_001232.4(CASQ2):c.234+2T>C
|
rs757789935
|
0.00002
|
NM_001232.4(CASQ2):c.44C>G (p.Ser15Cys)
|
rs185539994
|
0.00002
|
NM_001232.4(CASQ2):c.474C>T (p.Phe158=)
|
rs754879716
|
0.00002
|
NM_001232.4(CASQ2):c.478C>T (p.Arg160Cys)
|
rs750680032
|
0.00002
|
NM_001232.4(CASQ2):c.479G>A (p.Arg160His)
|
rs372283956
|
0.00002
|
NM_001232.4(CASQ2):c.607-17A>G
|
rs374227794
|
0.00002
|
NM_001232.4(CASQ2):c.673A>G (p.Ile225Val)
|
rs774546117
|
0.00002
|
NM_001232.4(CASQ2):c.737+6T>A
|
rs760688872
|
0.00002
|
NM_001232.4(CASQ2):c.762A>G (p.Pro254=)
|
rs753016201
|
0.00002
|
NM_001232.4(CASQ2):c.87T>C (p.Asp29=)
|
rs772180952
|
0.00002
|
NM_001232.4(CASQ2):c.893A>G (p.Asn298Ser)
|
rs548536938
|
0.00002
|
NM_006073.4(TRDN):c.1043A>G (p.Glu348Gly)
|
rs755708624
|
0.00002
|
NM_006073.4(TRDN):c.1098A>C (p.Ala366=)
|
rs1425417640
|
0.00002
|
NM_006073.4(TRDN):c.110C>T (p.Thr37Ile)
|
rs1289581577
|
0.00002
|
NM_006073.4(TRDN):c.117C>T (p.Asp39=)
|
rs750571542
|
0.00002
|
NM_006073.4(TRDN):c.1186+11G>T
|
rs1476535612
|
0.00002
|
NM_006073.4(TRDN):c.1220-3C>T
|
rs773907258
|
0.00002
|
NM_006073.4(TRDN):c.127A>G (p.Thr43Ala)
|
rs367564871
|
0.00002
|
NM_006073.4(TRDN):c.1547G>C (p.Gly516Ala)
|
rs145032876
|
0.00002
|
NM_006073.4(TRDN):c.1567G>C (p.Glu523Gln)
|
rs1319380436
|
0.00002
|
NM_006073.4(TRDN):c.1582A>G (p.Lys528Glu)
|
rs774550097
|
0.00002
|
NM_006073.4(TRDN):c.1625-17C>A
|
rs543749199
|
0.00002
|
NM_006073.4(TRDN):c.1671A>G (p.Pro557=)
|
rs935484433
|
0.00002
|
NM_006073.4(TRDN):c.1776A>C (p.Ile592=)
|
rs367716265
|
0.00002
|
NM_006073.4(TRDN):c.1871-6A>G
|
rs185268405
|
0.00002
|
NM_006073.4(TRDN):c.1934T>G (p.Leu645Ter)
|
rs747836980
|
0.00002
|
NM_006073.4(TRDN):c.1951+16G>A
|
rs377046739
|
0.00002
|
NM_006073.4(TRDN):c.1975+5G>T
|
rs899940538
|
0.00002
|
NM_006073.4(TRDN):c.1976-6C>G
|
rs368752139
|
0.00002
|
NM_006073.4(TRDN):c.1990G>A (p.Val664Ile)
|
rs756257644
|
0.00002
|
NM_006073.4(TRDN):c.2110T>A (p.Phe704Ile)
|
rs780892167
|
0.00002
|
NM_006073.4(TRDN):c.2164C>G (p.Pro722Ala)
|
rs774449661
|
0.00002
|
NM_006073.4(TRDN):c.2182G>A (p.Gly728Arg)
|
rs777497275
|
0.00002
|
NM_006073.4(TRDN):c.2185C>T (p.Gln729Ter)
|
rs769741426
|
0.00002
|
NM_006073.4(TRDN):c.439A>G (p.Lys147Glu)
|
rs554795197
|
0.00002
|
NM_006073.4(TRDN):c.484+7del
|
rs764922806
|
0.00002
|
NM_006073.4(TRDN):c.485-7T>C
|
rs921833812
|
0.00002
|
NM_006073.4(TRDN):c.551-4T>C
|
rs1413167708
|
0.00002
|
NM_006073.4(TRDN):c.605C>T (p.Ala202Val)
|
rs765653366
|
0.00002
|
NM_006073.4(TRDN):c.863C>T (p.Pro288Leu)
|
rs1408332939
|
0.00002
|
NM_006073.4(TRDN):c.931+10T>A
|
rs754118635
|
0.00002
|
NM_006073.4(TRDN):c.992-12T>C
|
rs1184620677
|
0.00002
|
NM_006888.6(CALM1):c.285+17A>G
|
rs757946033
|
0.00002
|
NM_001035.3(RYR2):c.10002G>A (p.Val3334=)
|
rs1265756833
|
0.00001
|
NM_001035.3(RYR2):c.10008G>A (p.Glu3336=)
|
rs753175584
|
0.00001
|
NM_001035.3(RYR2):c.10033del (p.Arg3345fs)
|
rs1060503778
|
0.00001
|
NM_001035.3(RYR2):c.10037G>A (p.Gly3346Glu)
|
rs1688603399
|
0.00001
|
NM_001035.3(RYR2):c.10047G>A (p.Ser3349=)
|
rs144428932
|
0.00001
|
NM_001035.3(RYR2):c.1006-6C>T
|
rs1010185386
|
0.00001
|
NM_001035.3(RYR2):c.10079C>T (p.Thr3360Ile)
|
rs924056885
|
0.00001
|
NM_001035.3(RYR2):c.10087G>C (p.Ala3363Pro)
|
rs374584820
|
0.00001
|
NM_001035.3(RYR2):c.10096C>T (p.Leu3366Phe)
|
rs377712921
|
0.00001
|
NM_001035.3(RYR2):c.10119G>A (p.Leu3373=)
|
rs1363597090
|
0.00001
|
NM_001035.3(RYR2):c.10125A>G (p.Arg3375=)
|
rs764396074
|
0.00001
|
NM_001035.3(RYR2):c.10142+3A>G
|
rs936725908
|
0.00001
|
NM_001035.3(RYR2):c.10142+4T>C
|
rs397516496
|
0.00001
|
NM_001035.3(RYR2):c.10142+6A>T
|
rs766051753
|
0.00001
|
NM_001035.3(RYR2):c.10143-10T>C
|
rs1300930938
|
0.00001
|
NM_001035.3(RYR2):c.10155A>G (p.Leu3385=)
|
rs543120030
|
0.00001
|
NM_001035.3(RYR2):c.10161G>A (p.Glu3387=)
|
rs1391492847
|
0.00001
|
NM_001035.3(RYR2):c.10174G>A (p.Ala3392Thr)
|
rs1325112585
|
0.00001
|
NM_001035.3(RYR2):c.10189C>T (p.Arg3397Cys)
|
rs764084155
|
0.00001
|
NM_001035.3(RYR2):c.10191C>A (p.Arg3397=)
|
rs1029985619
|
0.00001
|
NM_001035.3(RYR2):c.10200T>C (p.Ala3400=)
|
rs779316628
|
0.00001
|
NM_001035.3(RYR2):c.10220C>T (p.Ser3407Leu)
|
rs780287361
|
0.00001
|
NM_001035.3(RYR2):c.10230+15A>G
|
rs770179743
|
0.00001
|
NM_001035.3(RYR2):c.10230T>C (p.His3410=)
|
rs370078129
|
0.00001
|
NM_001035.3(RYR2):c.10247A>C (p.Glu3416Ala)
|
rs1409897706
|
0.00001
|
NM_001035.3(RYR2):c.10257C>T (p.Phe3419=)
|
rs748715725
|
0.00001
|
NM_001035.3(RYR2):c.10266G>C (p.Gln3422His)
|
rs368064371
|
0.00001
|
NM_001035.3(RYR2):c.10323+19T>A
|
rs765263725
|
0.00001
|
NM_001035.3(RYR2):c.10324-13C>G
|
rs1188052509
|
0.00001
|
NM_001035.3(RYR2):c.10361G>A (p.Arg3454His)
|
rs1229045575
|
0.00001
|
NM_001035.3(RYR2):c.10370A>C (p.Asp3457Ala)
|
rs544496844
|
0.00001
|
NM_001035.3(RYR2):c.10389C>T (p.Thr3463=)
|
rs878854151
|
0.00001
|
NM_001035.3(RYR2):c.1038A>G (p.Val346=)
|
rs796573345
|
0.00001
|
NM_001035.3(RYR2):c.1043G>A (p.Gly348Asp)
|
rs747138259
|
0.00001
|
NM_001035.3(RYR2):c.10488T>G (p.Phe3496Leu)
|
rs794728768
|
0.00001
|
NM_001035.3(RYR2):c.10524A>T (p.Ile3508=)
|
rs770094996
|
0.00001
|
NM_001035.3(RYR2):c.10529G>A (p.Arg3510His)
|
rs375947003
|
0.00001
|
NM_001035.3(RYR2):c.10529G>T (p.Arg3510Leu)
|
rs375947003
|
0.00001
|
NM_001035.3(RYR2):c.10551C>A (p.Gly3517=)
|
rs768797598
|
0.00001
|
NM_001035.3(RYR2):c.10555-10T>C
|
rs540655909
|
0.00001
|
NM_001035.3(RYR2):c.10555-4G>A
|
rs1309517155
|
0.00001
|
NM_001035.3(RYR2):c.10581A>G (p.Gln3527=)
|
rs760635634
|
0.00001
|
NM_001035.3(RYR2):c.10612A>C (p.Thr3538Pro)
|
rs894881755
|
0.00001
|
NM_001035.3(RYR2):c.10615G>A (p.Asp3539Asn)
|
rs766991919
|
0.00001
|
NM_001035.3(RYR2):c.10622C>A (p.Thr3541Asn)
|
rs1169415432
|
0.00001
|
NM_001035.3(RYR2):c.10637A>G (p.Lys3546Arg)
|
rs1011095512
|
0.00001
|
NM_001035.3(RYR2):c.10662A>T (p.Ile3554=)
|
rs1558290857
|
0.00001
|
NM_001035.3(RYR2):c.10681C>G (p.Leu3561Val)
|
rs1022428392
|
0.00001
|
NM_001035.3(RYR2):c.10725+17A>G
|
rs562857494
|
0.00001
|
NM_001035.3(RYR2):c.10767A>G (p.Lys3589=)
|
rs1176468756
|
0.00001
|
NM_001035.3(RYR2):c.1077A>G (p.Ser359=)
|
rs727505317
|
0.00001
|
NM_001035.3(RYR2):c.1078G>A (p.Val360Ile)
|
rs773628016
|
0.00001
|
NM_001035.3(RYR2):c.10790G>A (p.Arg3597Lys)
|
rs757494145
|
0.00001
|
NM_001035.3(RYR2):c.10816G>A (p.Ala3606Thr)
|
rs772511386
|
0.00001
|
NM_001035.3(RYR2):c.10826A>G (p.Tyr3609Cys)
|
rs747372037
|
0.00001
|
NM_001035.3(RYR2):c.10844G>A (p.Arg3615Gln)
|
rs879255349
|
0.00001
|
NM_001035.3(RYR2):c.1085A>G (p.Tyr362Cys)
|
rs1287712794
|
0.00001
|
NM_001035.3(RYR2):c.10873G>A (p.Glu3625Lys)
|
rs1225994973
|
0.00001
|
NM_001035.3(RYR2):c.10897G>A (p.Glu3633Lys)
|
rs748501600
|
0.00001
|
NM_001035.3(RYR2):c.10956A>G (p.Pro3652=)
|
rs765137450
|
0.00001
|
NM_001035.3(RYR2):c.10970G>A (p.Gly3657Asp)
|
rs876661020
|
0.00001
|
NM_001035.3(RYR2):c.10973C>G (p.Thr3658Ser)
|
rs766499417
|
0.00001
|
NM_001035.3(RYR2):c.10975A>G (p.Lys3659Glu)
|
rs184527312
|
0.00001
|
NM_001035.3(RYR2):c.10982T>C (p.Val3661Ala)
|
rs1163500187
|
0.00001
|
NM_001035.3(RYR2):c.10987C>T (p.Pro3663Ser)
|
rs1299197961
|
0.00001
|
NM_001035.3(RYR2):c.11036A>G (p.Lys3679Arg)
|
rs758125356
|
0.00001
|
NM_001035.3(RYR2):c.11039+13G>T
|
rs727504882
|
0.00001
|
NM_001035.3(RYR2):c.11040-3C>T
|
rs876657984
|
0.00001
|
NM_001035.3(RYR2):c.11040-6C>T
|
rs764492350
|
0.00001
|
NM_001035.3(RYR2):c.11040-8T>C
|
rs1346619924
|
0.00001
|
NM_001035.3(RYR2):c.11055T>C (p.Asp3685=)
|
rs368014495
|
0.00001
|
NM_001035.3(RYR2):c.11065A>G (p.Met3689Val)
|
rs1215940793
|
0.00001
|
NM_001035.3(RYR2):c.11111A>G (p.Asp3704Gly)
|
rs1334028810
|
0.00001
|
NM_001035.3(RYR2):c.11112T>C (p.Asp3704=)
|
rs779013786
|
0.00001
|
NM_001035.3(RYR2):c.11118T>C (p.Asp3706=)
|
rs1691685791
|
0.00001
|
NM_001035.3(RYR2):c.11127G>A (p.Glu3709=)
|
rs777292211
|
0.00001
|
NM_001035.3(RYR2):c.11131G>A (p.Val3711Met)
|
rs1307926430
|
0.00001
|
NM_001035.3(RYR2):c.11146-6G>A
|
rs886046277
|
0.00001
|
NM_001035.3(RYR2):c.11158G>C (p.Glu3720Gln)
|
rs770241781
|
0.00001
|
NM_001035.3(RYR2):c.1115T>A (p.Leu372His)
|
rs763658621
|
0.00001
|
NM_001035.3(RYR2):c.11196C>T (p.His3732=)
|
rs774786081
|
0.00001
|
NM_001035.3(RYR2):c.11205C>T (p.Gly3735=)
|
rs756763032
|
0.00001
|
NM_001035.3(RYR2):c.11207C>T (p.Ala3736Val)
|
rs1209754420
|
0.00001
|
NM_001035.3(RYR2):c.11229A>C (p.Thr3743=)
|
rs755203769
|
0.00001
|
NM_001035.3(RYR2):c.11245+14A>G
|
rs566690905
|
0.00001
|
NM_001035.3(RYR2):c.11250A>C (p.Glu3750Asp)
|
rs769433180
|
0.00001
|
NM_001035.3(RYR2):c.11252C>G (p.Thr3751Ser)
|
rs772768256
|
0.00001
|
NM_001035.3(RYR2):c.11266G>A (p.Ala3756Thr)
|
rs942942966
|
0.00001
|
NM_001035.3(RYR2):c.11307G>A (p.Gly3769=)
|
rs1253833653
|
0.00001
|
NM_001035.3(RYR2):c.11326-4A>G
|
rs727504876
|
0.00001
|
NM_001035.3(RYR2):c.11385C>G (p.Gly3795=)
|
rs919989129
|
0.00001
|
NM_001035.3(RYR2):c.11402+6G>A
|
rs374183234
|
0.00001
|
NM_001035.3(RYR2):c.11428C>T (p.Arg3810Ter)
|
rs1446308525
|
0.00001
|
NM_001035.3(RYR2):c.11477-14T>C
|
rs1219270773
|
0.00001
|
NM_001035.3(RYR2):c.11477-20T>A
|
rs1347306061
|
0.00001
|
NM_001035.3(RYR2):c.11480A>C (p.Glu3827Ala)
|
rs1446930267
|
0.00001
|
NM_001035.3(RYR2):c.11484G>T (p.Lys3828Asn)
|
rs1200279072
|
0.00001
|
NM_001035.3(RYR2):c.11485G>A (p.Val3829Ile)
|
rs886524806
|
0.00001
|
NM_001035.3(RYR2):c.11552A>G (p.Asn3851Ser)
|
rs967116157
|
0.00001
|
NM_001035.3(RYR2):c.11558-10T>A
|
rs1060500167
|
0.00001
|
NM_001035.3(RYR2):c.11558-15T>C
|
rs753142009
|
0.00001
|
NM_001035.3(RYR2):c.11592T>C (p.Asn3864=)
|
rs1335514890
|
0.00001
|
NM_001035.3(RYR2):c.1159A>C (p.Ile387Leu)
|
rs748169418
|
0.00001
|
NM_001035.3(RYR2):c.11601T>C (p.Thr3867=)
|
rs1226933021
|
0.00001
|
NM_001035.3(RYR2):c.11608A>G (p.Ile3870Val)
|
rs1333353951
|
0.00001
|
NM_001035.3(RYR2):c.11613T>C (p.Ile3871=)
|
rs375364162
|
0.00001
|
NM_001035.3(RYR2):c.11622T>G (p.Thr3874=)
|
rs1258139963
|
0.00001
|
NM_001035.3(RYR2):c.11634A>G (p.Leu3878=)
|
rs587781143
|
0.00001
|
NM_001035.3(RYR2):c.1163A>G (p.Gln388Arg)
|
rs397516506
|
0.00001
|
NM_001035.3(RYR2):c.11647-18A>G
|
rs772991575
|
0.00001
|
NM_001035.3(RYR2):c.11647-5C>T
|
rs1470967404
|
0.00001
|
NM_001035.3(RYR2):c.11672A>T (p.Tyr3891Phe)
|
rs1430332496
|
0.00001
|
NM_001035.3(RYR2):c.1170+10T>C
|
rs760377600
|
0.00001
|
NM_001035.3(RYR2):c.1174A>G (p.Ile392Val)
|
rs574563209
|
0.00001
|
NM_001035.3(RYR2):c.11775+6C>A
|
rs758183625
|
0.00001
|
NM_001035.3(RYR2):c.11776-6C>T
|
rs761155489
|
0.00001
|
NM_001035.3(RYR2):c.11839T>C (p.Phe3947Leu)
|
rs1490290877
|
0.00001
|
NM_001035.3(RYR2):c.11859T>C (p.His3953=)
|
rs751268867
|
0.00001
|
NM_001035.3(RYR2):c.11886C>T (p.Ser3962=)
|
rs1695113528
|
0.00001
|
NM_001035.3(RYR2):c.11894T>C (p.Ile3965Thr)
|
rs1272734214
|
0.00001
|
NM_001035.3(RYR2):c.11922G>A (p.Leu3974=)
|
rs769084479
|
0.00001
|
NM_001035.3(RYR2):c.11958A>G (p.Leu3986=)
|
rs762362078
|
0.00001
|
NM_001035.3(RYR2):c.11962+10A>T
|
rs1060503854
|
0.00001
|
NM_001035.3(RYR2):c.11962+17C>G
|
rs770285624
|
0.00001
|
NM_001035.3(RYR2):c.11963-9T>C
|
rs113583794
|
0.00001
|
NM_001035.3(RYR2):c.11998G>A (p.Val4000Met)
|
rs773760019
|
0.00001
|
NM_001035.3(RYR2):c.12023A>G (p.Asn4008Ser)
|
rs1330847491
|
0.00001
|
NM_001035.3(RYR2):c.12057G>A (p.Met4019Ile)
|
rs763668006
|
0.00001
|
NM_001035.3(RYR2):c.12083C>T (p.Ser4028Leu)
|
rs779666612
|
0.00001
|
NM_001035.3(RYR2):c.12152C>T (p.Ala4051Val)
|
rs1326672128
|
0.00001
|
NM_001035.3(RYR2):c.12153G>A (p.Ala4051=)
|
rs768288201
|
0.00001
|
NM_001035.3(RYR2):c.12167A>G (p.Lys4056Arg)
|
rs762743022
|
0.00001
|
NM_001035.3(RYR2):c.12168G>A (p.Lys4056=)
|
rs1573932788
|
0.00001
|
NM_001035.3(RYR2):c.12174C>T (p.Tyr4058=)
|
rs766262728
|
0.00001
|
NM_001035.3(RYR2):c.12198T>G (p.Leu4066=)
|
rs767815859
|
0.00001
|
NM_001035.3(RYR2):c.12210G>A (p.Ala4070=)
|
rs757703714
|
0.00001
|
NM_001035.3(RYR2):c.12217G>A (p.Asp4073Asn)
|
rs768341298
|
0.00001
|
NM_001035.3(RYR2):c.12234C>T (p.Leu4078=)
|
rs769308688
|
0.00001
|
NM_001035.3(RYR2):c.12244G>A (p.Glu4082Lys)
|
rs774241742
|
0.00001
|
NM_001035.3(RYR2):c.12273G>A (p.Ala4091=)
|
rs966083978
|
0.00001
|
NM_001035.3(RYR2):c.12283G>A (p.Gly4095Ser)
|
rs753850982
|
0.00001
|
NM_001035.3(RYR2):c.12292G>A (p.Val4098Ile)
|
rs1047248475
|
0.00001
|
NM_001035.3(RYR2):c.12297C>T (p.Ala4099=)
|
rs369971378
|
0.00001
|
NM_001035.3(RYR2):c.12298G>A (p.Val4100Ile)
|
rs758785338
|
0.00001
|
NM_001035.3(RYR2):c.12315C>T (p.Leu4105=)
|
rs184625125
|
0.00001
|
NM_001035.3(RYR2):c.12333C>T (p.Asn4111=)
|
rs748716535
|
0.00001
|
NM_001035.3(RYR2):c.12334G>A (p.Asp4112Asn)
|
rs1695348814
|
0.00001
|
NM_001035.3(RYR2):c.12336T>C (p.Asp4112=)
|
rs770434178
|
0.00001
|
NM_001035.3(RYR2):c.12366A>G (p.Ala4122=)
|
rs373185648
|
0.00001
|
NM_001035.3(RYR2):c.12387C>T (p.Phe4129=)
|
rs1238580758
|
0.00001
|
NM_001035.3(RYR2):c.12397C>T (p.Leu4133=)
|
rs1553322794
|
0.00001
|
NM_001035.3(RYR2):c.12403C>T (p.Arg4135Cys)
|
rs761039434
|
0.00001
|
NM_001035.3(RYR2):c.12404G>A (p.Arg4135His)
|
rs764202302
|
0.00001
|
NM_001035.3(RYR2):c.1240C>T (p.Arg414Cys)
|
rs764698152
|
0.00001
|
NM_001035.3(RYR2):c.12435C>T (p.Ile4145=)
|
rs954641240
|
0.00001
|
NM_001035.3(RYR2):c.12471A>G (p.Arg4157=)
|
rs751897207
|
0.00001
|
NM_001035.3(RYR2):c.12489C>T (p.Pro4163=)
|
rs777321777
|
0.00001
|
NM_001035.3(RYR2):c.12497A>G (p.Lys4166Arg)
|
rs1450189858
|
0.00001
|
NM_001035.3(RYR2):c.1250G>A (p.Arg417Gln)
|
rs751428303
|
0.00001
|
NM_001035.3(RYR2):c.12549A>G (p.Lys4183=)
|
rs760519665
|
0.00001
|
NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp)
|
rs190140598
|
0.00001
|
NM_001035.3(RYR2):c.12621G>A (p.Ser4207=)
|
rs969138992
|
0.00001
|
NM_001035.3(RYR2):c.12627G>A (p.Ser4209=)
|
rs3753631
|
0.00001
|
NM_001035.3(RYR2):c.12638A>G (p.Glu4213Gly)
|
rs1178157004
|
0.00001
|
NM_001035.3(RYR2):c.12639G>C (p.Glu4213Asp)
|
rs1695374375
|
0.00001
|
NM_001035.3(RYR2):c.12660A>C (p.Glu4220Asp)
|
rs1323430299
|
0.00001
|
NM_001035.3(RYR2):c.12692C>T (p.Pro4231Leu)
|
rs1321340277
|
0.00001
|
NM_001035.3(RYR2):c.12693G>A (p.Pro4231=)
|
rs748387463
|
0.00001
|
NM_001035.3(RYR2):c.12700G>A (p.Ala4234Thr)
|
rs773317989
|
0.00001
|
NM_001035.3(RYR2):c.12715C>T (p.Leu4239=)
|
rs766396305
|
0.00001
|
NM_001035.3(RYR2):c.12720G>C (p.Thr4240=)
|
rs774851947
|
0.00001
|
NM_001035.3(RYR2):c.12752A>G (p.Asn4251Ser)
|
rs750064223
|
0.00001
|
NM_001035.3(RYR2):c.12767T>C (p.Met4256Thr)
|
rs530277653
|
0.00001
|
NM_001035.3(RYR2):c.12770G>A (p.Arg4257Gln)
|
rs371396204
|
0.00001
|
NM_001035.3(RYR2):c.12786G>A (p.Lys4262=)
|
rs374332015
|
0.00001
|
NM_001035.3(RYR2):c.12820A>T (p.Met4274Leu)
|
rs1304617213
|
0.00001
|
NM_001035.3(RYR2):c.12826G>A (p.Val4276Met)
|
rs368599791
|
0.00001
|
NM_001035.3(RYR2):c.1284A>T (p.Arg428Ser)
|
rs777771262
|
0.00001
|
NM_001035.3(RYR2):c.12860A>G (p.Tyr4287Cys)
|
rs1422123208
|
0.00001
|
NM_001035.3(RYR2):c.12887A>C (p.His4296Pro)
|
rs1695398009
|
0.00001
|
NM_001035.3(RYR2):c.12906C>T (p.Phe4302=)
|
rs1265667422
|
0.00001
|
NM_001035.3(RYR2):c.12912C>G (p.Gly4304=)
|
rs1245462519
|
0.00001
|
NM_001035.3(RYR2):c.12913T>C (p.Phe4305Leu)
|
rs1477602829
|
0.00001
|
NM_001035.3(RYR2):c.12920G>A (p.Arg4307His)
|
rs769146715
|
0.00001
|
NM_001035.3(RYR2):c.12927T>A (p.Ile4309=)
|
rs777132279
|
0.00001
|
NM_001035.3(RYR2):c.1293-7A>G
|
rs1185030643
|
0.00001
|
NM_001035.3(RYR2):c.12954C>T (p.Leu4318=)
|
rs1055906213
|
0.00001
|
NM_001035.3(RYR2):c.12960A>G (p.Glu4320=)
|
rs1456795811
|
0.00001
|
NM_001035.3(RYR2):c.12991T>C (p.Leu4331=)
|
rs1327823442
|
0.00001
|
NM_001035.3(RYR2):c.12994G>A (p.Ala4332Thr)
|
rs1695407325
|
0.00001
|
NM_001035.3(RYR2):c.13061T>G (p.Leu4354Arg)
|
rs1361307283
|
0.00001
|
NM_001035.3(RYR2):c.13068C>T (p.Ala4356=)
|
rs779932052
|
0.00001
|
NM_001035.3(RYR2):c.13079C>T (p.Ser4360Phe)
|
rs982384666
|
0.00001
|
NM_001035.3(RYR2):c.13081G>A (p.Glu4361Lys)
|
rs794728795
|
0.00001
|
NM_001035.3(RYR2):c.13088T>C (p.Leu4363Pro)
|
rs762239413
|
0.00001
|
NM_001035.3(RYR2):c.13093G>A (p.Asp4365Asn)
|
rs372880584
|
0.00001
|
NM_001035.3(RYR2):c.13103A>G (p.Glu4368Gly)
|
rs1483523927
|
0.00001
|
NM_001035.3(RYR2):c.13112A>G (p.Glu4371Gly)
|
rs1695416603
|
0.00001
|
NM_001035.3(RYR2):c.13160A>G (p.Glu4387Gly)
|
rs1190034895
|
0.00001
|
NM_001035.3(RYR2):c.13198G>T (p.Ala4400Ser)
|
rs750662333
|
0.00001
|
NM_001035.3(RYR2):c.1320G>A (p.Ala440=)
|
rs887478410
|
0.00001
|
NM_001035.3(RYR2):c.13212C>T (p.Asp4404=)
|
rs758548582
|
0.00001
|
NM_001035.3(RYR2):c.13216A>T (p.Met4406Leu)
|
rs1328615953
|
0.00001
|
NM_001035.3(RYR2):c.13220G>A (p.Ser4407Asn)
|
rs755585430
|
0.00001
|
NM_001035.3(RYR2):c.13245G>A (p.Val4415=)
|
rs1695427951
|
0.00001
|
NM_001035.3(RYR2):c.13252A>G (p.Lys4418Glu)
|
rs1029442866
|
0.00001
|
NM_001035.3(RYR2):c.13261-11A>T
|
rs1391876423
|
0.00001
|
NM_001035.3(RYR2):c.13283A>G (p.Glu4428Gly)
|
rs1254605642
|
0.00001
|
NM_001035.3(RYR2):c.13301A>C (p.Glu4434Ala)
|
rs771286329
|
0.00001
|
NM_001035.3(RYR2):c.13326C>T (p.Ala4442=)
|
rs768161152
|
0.00001
|
NM_001035.3(RYR2):c.13328+3A>G
|
rs776115513
|
0.00001
|
NM_001035.3(RYR2):c.13329-10G>C
|
rs754319442
|
0.00001
|
NM_001035.3(RYR2):c.13329-15T>C
|
rs1188175665
|
0.00001
|
NM_001035.3(RYR2):c.13351G>A (p.Glu4451Lys)
|
rs780734342
|
0.00001
|
NM_001035.3(RYR2):c.1335C>T (p.Val445=)
|
rs573201028
|
0.00001
|
NM_001035.3(RYR2):c.13370A>G (p.Lys4457Arg)
|
rs747584325
|
0.00001
|
NM_001035.3(RYR2):c.13379A>G (p.Gln4460Arg)
|
rs762879895
|
0.00001
|
NM_001035.3(RYR2):c.13399A>G (p.Thr4467Ala)
|
rs774270919
|
0.00001
|
NM_001035.3(RYR2):c.13405A>G (p.Arg4469Gly)
|
rs367809296
|
0.00001
|
NM_001035.3(RYR2):c.13410C>T (p.Tyr4470=)
|
rs183933829
|
0.00001
|
NM_001035.3(RYR2):c.13423G>A (p.Val4475Met)
|
rs1275899087
|
0.00001
|
NM_001035.3(RYR2):c.13425G>T (p.Val4475=)
|
rs760691911
|
0.00001
|
NM_001035.3(RYR2):c.1343C>T (p.Pro448Leu)
|
rs759603395
|
0.00001
|
NM_001035.3(RYR2):c.13449A>G (p.Lys4483=)
|
rs1008224442
|
0.00001
|
NM_001035.3(RYR2):c.13457C>G (p.Ala4486Gly)
|
rs779309213
|
0.00001
|
NM_001035.3(RYR2):c.1346T>G (p.Ile449Arg)
|
rs373331669
|
0.00001
|
NM_001035.3(RYR2):c.13476+6A>G
|
rs1457866950
|
0.00001
|
NM_001035.3(RYR2):c.13477-5C>T
|
rs1412300643
|
0.00001
|
NM_001035.3(RYR2):c.13477-9C>T
|
rs1351628892
|
0.00001
|
NM_001035.3(RYR2):c.13482T>C (p.Tyr4494=)
|
rs886046279
|
0.00001
|
NM_001035.3(RYR2):c.13501A>C (p.Asn4501His)
|
rs1445700179
|
0.00001
|
NM_001035.3(RYR2):c.13504A>C (p.Met4502Leu)
|
rs876657985
|
0.00001
|
NM_001035.3(RYR2):c.13526T>C (p.Val4509Ala)
|
rs1209033509
|
0.00001
|
NM_001035.3(RYR2):c.1353C>T (p.Ser451=)
|
rs764245031
|
0.00001
|
NM_001035.3(RYR2):c.13564-18T>A
|
rs776614513
|
0.00001
|
NM_001035.3(RYR2):c.13564-7G>C
|
rs765254375
|
0.00001
|
NM_001035.3(RYR2):c.13604C>T (p.Thr4535Met)
|
rs756839134
|
0.00001
|
NM_001035.3(RYR2):c.13615A>C (p.Ser4539Arg)
|
rs778498741
|
0.00001
|
NM_001035.3(RYR2):c.13623T>C (p.Asn4541=)
|
rs1389335931
|
0.00001
|
NM_001035.3(RYR2):c.13624G>A (p.Ala4542Thr)
|
rs1296705206
|
0.00001
|
NM_001035.3(RYR2):c.13647C>T (p.Ser4549=)
|
rs1166610736
|
0.00001
|
NM_001035.3(RYR2):c.13655A>G (p.His4552Arg)
|
rs768299786
|
0.00001
|
NM_001035.3(RYR2):c.13656T>C (p.His4552=)
|
rs397516512
|
0.00001
|
NM_001035.3(RYR2):c.13661T>C (p.Ile4554Thr)
|
rs1234650666
|
0.00001
|
NM_001035.3(RYR2):c.13665C>T (p.Ile4555=)
|
rs375213838
|
0.00001
|
NM_001035.3(RYR2):c.13681C>T (p.Leu4561=)
|
rs372599604
|
0.00001
|
NM_001035.3(RYR2):c.13696G>A (p.Gly4566Ser)
|
rs767716570
|
0.00001
|
NM_001035.3(RYR2):c.13734G>A (p.Leu4578=)
|
rs1268914442
|
0.00001
|
NM_001035.3(RYR2):c.13743C>G (p.Val4581=)
|
rs377670364
|
0.00001
|
NM_001035.3(RYR2):c.13783-4G>A
|
rs1364773484
|
0.00001
|
NM_001035.3(RYR2):c.13788A>T (p.Pro4596=)
|
rs368675632
|
0.00001
|
NM_001035.3(RYR2):c.13806A>G (p.Arg4602=)
|
rs1230311017
|
0.00001
|
NM_001035.3(RYR2):c.13900G>A (p.Val4634Ile)
|
rs756310498
|
0.00001
|
NM_001035.3(RYR2):c.13902A>C (p.Val4634=)
|
rs1449876826
|
0.00001
|
NM_001035.3(RYR2):c.1392C>A (p.His464Gln)
|
rs749032742
|
0.00001
|
NM_001035.3(RYR2):c.13957-10A>G
|
rs780730833
|
0.00001
|
NM_001035.3(RYR2):c.13976A>G (p.Glu4659Gly)
|
rs749030677
|
0.00001
|
NM_001035.3(RYR2):c.1397C>A (p.Pro466Gln)
|
rs967199869
|
0.00001
|
NM_001035.3(RYR2):c.13984G>A (p.Gly4662Ser)
|
rs886039213
|
0.00001
|
NM_001035.3(RYR2):c.14024C>A (p.Ala4675Glu)
|
rs1172831046
|
0.00001
|
NM_001035.3(RYR2):c.14031G>A (p.Leu4677=)
|
rs1334803515
|
0.00001
|
NM_001035.3(RYR2):c.1403A>G (p.Glu468Gly)
|
rs1282053556
|
0.00001
|
NM_001035.3(RYR2):c.14040T>C (p.Ser4680=)
|
rs938907868
|
0.00001
|
NM_001035.3(RYR2):c.14041G>A (p.Asp4681Asn)
|
rs1478475074
|
0.00001
|
NM_001035.3(RYR2):c.14055G>A (p.Lys4685=)
|
rs765409439
|
0.00001
|
NM_001035.3(RYR2):c.1405C>T (p.His469Tyr)
|
rs776288769
|
0.00001
|
NM_001035.3(RYR2):c.14066A>G (p.Lys4689Arg)
|
rs1085307711
|
0.00001
|
NM_001035.3(RYR2):c.14085A>C (p.Ser4695=)
|
rs758566439
|
0.00001
|
NM_001035.3(RYR2):c.14090+15G>A
|
rs375767595
|
0.00001
|
NM_001035.3(RYR2):c.14098T>G (p.Ser4700Ala)
|
rs766629125
|
0.00001
|
NM_001035.3(RYR2):c.14151+1G>A
|
rs745576995
|
0.00001
|
NM_001035.3(RYR2):c.14151C>T (p.Asn4717=)
|
rs1479892874
|
0.00001
|
NM_001035.3(RYR2):c.14152-3T>C
|
rs376797615
|
0.00001
|
NM_001035.3(RYR2):c.1423A>C (p.Lys475Gln)
|
rs765389300
|
0.00001
|
NM_001035.3(RYR2):c.1424A>G (p.Lys475Arg)
|
rs750510651
|
0.00001
|
NM_001035.3(RYR2):c.14301C>T (p.Leu4767=)
|
rs369715118
|
0.00001
|
NM_001035.3(RYR2):c.14302G>A (p.Val4768Ile)
|
rs775534249
|
0.00001
|
NM_001035.3(RYR2):c.14344A>G (p.Thr4782Ala)
|
rs762305687
|
0.00001
|
NM_001035.3(RYR2):c.14369G>A (p.Arg4790Gln)
|
rs750780758
|
0.00001
|
NM_001035.3(RYR2):c.14409T>C (p.Asp4803=)
|
rs878891404
|
0.00001
|
NM_001035.3(RYR2):c.14415A>G (p.Lys4805=)
|
rs397516515
|
0.00001
|
NM_001035.3(RYR2):c.14422G>A (p.Asp4808Asn)
|
rs777414943
|
0.00001
|
NM_001035.3(RYR2):c.14433+10T>A
|
rs1174588915
|
0.00001
|
NM_001035.3(RYR2):c.1444C>T (p.Leu482=)
|
rs117903753
|
0.00001
|
NM_001035.3(RYR2):c.14502A>G (p.Pro4834=)
|
rs368463791
|
0.00001
|
NM_001035.3(RYR2):c.14590+11T>C
|
rs750269889
|
0.00001
|
NM_001035.3(RYR2):c.14591-4C>T
|
rs1298987321
|
0.00001
|
NM_001035.3(RYR2):c.14625C>T (p.Asp4875=)
|
rs1184589246
|
0.00001
|
NM_001035.3(RYR2):c.14733G>A (p.Gln4911=)
|
rs751453181
|
0.00001
|
NM_001035.3(RYR2):c.14757-14C>A
|
rs1574129539
|
0.00001
|
NM_001035.3(RYR2):c.1476+5G>A
|
rs778668388
|
0.00001
|
NM_001035.3(RYR2):c.1477-7G>A
|
rs763127313
|
0.00001
|
NM_001035.3(RYR2):c.14781C>T (p.Asn4927=)
|
rs559218380
|
0.00001
|
NM_001035.3(RYR2):c.14808+12A>C
|
rs886046281
|
0.00001
|
NM_001035.3(RYR2):c.14809-10A>T
|
rs1455014769
|
0.00001
|
NM_001035.3(RYR2):c.14811A>G (p.Glu4937=)
|
rs1282956982
|
0.00001
|
NM_001035.3(RYR2):c.14826G>A (p.Lys4942=)
|
rs1379152907
|
0.00001
|
NM_001035.3(RYR2):c.14841G>T (p.Arg4947Ser)
|
rs1252294768
|
0.00001
|
NM_001035.3(RYR2):c.14850A>G (p.Glu4950=)
|
rs947052066
|
0.00001
|
NM_001035.3(RYR2):c.14869T>A (p.Cys4957Ser)
|
rs758500988
|
0.00001
|
NM_001035.3(RYR2):c.14884T>A (p.Tyr4962Asn)
|
rs748937501
|
0.00001
|
NM_001035.3(RYR2):c.1492G>A (p.Val498Met)
|
rs760100468
|
0.00001
|
NM_001035.3(RYR2):c.1504A>G (p.Ile502Val)
|
rs1309242606
|
0.00001
|
NM_001035.3(RYR2):c.1509C>A (p.Asp503Glu)
|
rs764532025
|
0.00001
|
NM_001035.3(RYR2):c.1517A>T (p.His506Leu)
|
rs1476195040
|
0.00001
|
NM_001035.3(RYR2):c.1526G>A (p.Ser509Asn)
|
rs1558850631
|
0.00001
|
NM_001035.3(RYR2):c.1527C>T (p.Ser509=)
|
rs886042568
|
0.00001
|
NM_001035.3(RYR2):c.1537C>G (p.His513Asp)
|
rs1230792928
|
0.00001
|
NM_001035.3(RYR2):c.1559G>A (p.Arg520Gln)
|
rs564957172
|
0.00001
|
NM_001035.3(RYR2):c.1573T>G (p.Ser525Ala)
|
rs1207389001
|
0.00001
|
NM_001035.3(RYR2):c.1575T>C (p.Ser525=)
|
rs576451595
|
0.00001
|
NM_001035.3(RYR2):c.1612+7A>C
|
rs371061260
|
0.00001
|
NM_001035.3(RYR2):c.1613-12C>A
|
rs1343902398
|
0.00001
|
NM_001035.3(RYR2):c.1613-9C>T
|
rs757051500
|
0.00001
|
NM_001035.3(RYR2):c.1617T>C (p.Ala539=)
|
rs1274422759
|
0.00001
|
NM_001035.3(RYR2):c.1698A>C (p.Glu566Asp)
|
rs1397154786
|
0.00001
|
NM_001035.3(RYR2):c.1699G>C (p.Ala567Pro)
|
rs753758467
|
0.00001
|
NM_001035.3(RYR2):c.171T>C (p.Asn57=)
|
rs1355336223
|
0.00001
|
NM_001035.3(RYR2):c.1775G>A (p.Gly592Glu)
|
rs794728724
|
0.00001
|
NM_001035.3(RYR2):c.177C>T (p.Pro59=)
|
rs1274699222
|
0.00001
|
NM_001035.3(RYR2):c.1843T>G (p.Cys615Gly)
|
rs1055900110
|
0.00001
|
NM_001035.3(RYR2):c.1864G>A (p.Gly622Arg)
|
rs376243998
|
0.00001
|
NM_001035.3(RYR2):c.1903A>C (p.Asn635His)
|
rs768241033
|
0.00001
|
NM_001035.3(RYR2):c.1909C>A (p.Leu637Ile)
|
rs1159892117
|
0.00001
|
NM_001035.3(RYR2):c.1927T>A (p.Leu643Ile)
|
rs368918887
|
0.00001
|
NM_001035.3(RYR2):c.1930T>C (p.Leu644=)
|
rs373160383
|
0.00001
|
NM_001035.3(RYR2):c.1951C>T (p.His651Tyr)
|
rs759839219
|
0.00001
|
NM_001035.3(RYR2):c.1963A>T (p.Met655Leu)
|
rs1664091653
|
0.00001
|
NM_001035.3(RYR2):c.1976T>G (p.Ile659Ser)
|
rs753013388
|
0.00001
|
NM_001035.3(RYR2):c.1987G>A (p.Val663Ile)
|
rs374277541
|
0.00001
|
NM_001035.3(RYR2):c.2022C>T (p.Tyr674=)
|
rs1411379557
|
0.00001
|
NM_001035.3(RYR2):c.2050C>A (p.Pro684Thr)
|
rs1553473182
|
0.00001
|
NM_001035.3(RYR2):c.2081G>A (p.Arg694Gln)
|
rs190787113
|
0.00001
|
NM_001035.3(RYR2):c.2101G>A (p.Glu701Lys)
|
rs748762074
|
0.00001
|
NM_001035.3(RYR2):c.2121T>A (p.Pro707=)
|
rs1004858931
|
0.00001
|
NM_001035.3(RYR2):c.2125G>T (p.Gly709Trp)
|
rs775143324
|
0.00001
|
NM_001035.3(RYR2):c.2131G>A (p.Glu711Lys)
|
rs1470689668
|
0.00001
|
NM_001035.3(RYR2):c.2146A>G (p.Asn716Asp)
|
rs1395171532
|
0.00001
|
NM_001035.3(RYR2):c.2174A>G (p.Tyr725Cys)
|
rs776700027
|
0.00001
|
NM_001035.3(RYR2):c.2175T>C (p.Tyr725=)
|
rs758813812
|
0.00001
|
NM_001035.3(RYR2):c.2203+3_2203+4dup
|
rs730880376
|
0.00001
|
NM_001035.3(RYR2):c.2204-14T>G
|
rs767973692
|
0.00001
|
NM_001035.3(RYR2):c.2215C>T (p.Arg739Cys)
|
rs1170501862
|
0.00001
|
NM_001035.3(RYR2):c.2216G>A (p.Arg739His)
|
rs955065308
|
0.00001
|
NM_001035.3(RYR2):c.2223A>G (p.Val741=)
|
rs117242563
|
0.00001
|
NM_001035.3(RYR2):c.2253T>G (p.Thr751=)
|
rs762905211
|
0.00001
|
NM_001035.3(RYR2):c.2260G>T (p.Val754Phe)
|
rs376923538
|
0.00001
|
NM_001035.3(RYR2):c.226C>T (p.Arg76Trp)
|
rs542777295
|
0.00001
|
NM_001035.3(RYR2):c.2275T>A (p.Leu759Ile)
|
rs768063536
|
0.00001
|
NM_001035.3(RYR2):c.2287G>A (p.Ala763Thr)
|
rs1306256963
|
0.00001
|
NM_001035.3(RYR2):c.2300C>T (p.Ser767Leu)
|
rs749979131
|
0.00001
|
NM_001035.3(RYR2):c.2306G>A (p.Arg769Gln)
|
rs754901791
|
0.00001
|
NM_001035.3(RYR2):c.2320C>A (p.Pro774Thr)
|
rs780965490
|
0.00001
|
NM_001035.3(RYR2):c.2323G>A (p.Val775Ile)
|
rs747893832
|
0.00001
|
NM_001035.3(RYR2):c.2350A>T (p.Ile784Phe)
|
rs794728729
|
0.00001
|
NM_001035.3(RYR2):c.2352C>T (p.Ile784=)
|
rs573789485
|
0.00001
|
NM_001035.3(RYR2):c.2354A>G (p.Asp785Gly)
|
rs1572613741
|
0.00001
|
NM_001035.3(RYR2):c.2364C>A (p.Phe788Leu)
|
rs776018906
|
0.00001
|
NM_001035.3(RYR2):c.2373C>T (p.Val791=)
|
rs770431899
|
0.00001
|
NM_001035.3(RYR2):c.2379T>C (p.Ser793=)
|
rs1230175710
|
0.00001
|
NM_001035.3(RYR2):c.2394A>G (p.Ile798Met)
|
rs192876953
|
0.00001
|
NM_001035.3(RYR2):c.2402G>T (p.Arg801Leu)
|
rs371157868
|
0.00001
|
NM_001035.3(RYR2):c.2416G>C (p.Gly806Arg)
|
rs1227019047
|
0.00001
|
NM_001035.3(RYR2):c.2420G>A (p.Arg807Gln)
|
rs753611255
|
0.00001
|
NM_001035.3(RYR2):c.2423A>G (p.His808Arg)
|
rs757443712
|
0.00001
|
NM_001035.3(RYR2):c.2444C>T (p.Pro815Leu)
|
rs537596448
|
0.00001
|
NM_001035.3(RYR2):c.2457T>C (p.Tyr819=)
|
rs776868355
|
0.00001
|
NM_001035.3(RYR2):c.2484A>G (p.Pro828=)
|
rs1323860626
|
0.00001
|
NM_001035.3(RYR2):c.2513G>A (p.Arg838Gln)
|
rs764043352
|
0.00001
|
NM_001035.3(RYR2):c.2542C>T (p.Arg848Cys)
|
rs765102386
|
0.00001
|
NM_001035.3(RYR2):c.2543G>A (p.Arg848His)
|
rs1247047478
|
0.00001
|
NM_001035.3(RYR2):c.2551C>T (p.Leu851=)
|
rs1487401743
|
0.00001
|
NM_001035.3(RYR2):c.2562A>G (p.Thr854=)
|
rs727503398
|
0.00001
|
NM_001035.3(RYR2):c.256G>A (p.Val86Met)
|
rs1217618479
|
0.00001
|
NM_001035.3(RYR2):c.2603A>G (p.Asp868Gly)
|
rs1272250863
|
0.00001
|
NM_001035.3(RYR2):c.2613+16C>T
|
rs542609503
|
0.00001
|
NM_001035.3(RYR2):c.2614-11G>C
|
rs778125348
|
0.00001
|
NM_001035.3(RYR2):c.2614-12T>C
|
rs928458049
|
0.00001
|
NM_001035.3(RYR2):c.2616C>T (p.Ile872=)
|
rs376641425
|
0.00001
|
NM_001035.3(RYR2):c.2632C>T (p.Leu878=)
|
rs376834009
|
0.00001
|
NM_001035.3(RYR2):c.2642T>G (p.Ile881Arg)
|
rs762792701
|
0.00001
|
NM_001035.3(RYR2):c.2650A>G (p.Lys884Glu)
|
rs767642846
|
0.00001
|
NM_001035.3(RYR2):c.2663A>G (p.Asn888Ser)
|
rs1289969599
|
0.00001
|
NM_001035.3(RYR2):c.2698C>T (p.Leu900Phe)
|
rs754314526
|
0.00001
|
NM_001035.3(RYR2):c.2707C>A (p.Gln903Lys)
|
rs1458382114
|
0.00001
|
NM_001035.3(RYR2):c.2712T>C (p.Tyr904=)
|
rs758586059
|
0.00001
|
NM_001035.3(RYR2):c.2719-10C>A
|
rs898992768
|
0.00001
|
NM_001035.3(RYR2):c.2719-4T>A
|
rs397516523
|
0.00001
|
NM_001035.3(RYR2):c.274-10C>G
|
rs1699258662
|
0.00001
|
NM_001035.3(RYR2):c.2745C>T (p.His915=)
|
rs754398749
|
0.00001
|
NM_001035.3(RYR2):c.2773C>T (p.Pro925Ser)
|
rs1023177526
|
0.00001
|
NM_001035.3(RYR2):c.2784G>A (p.Glu928=)
|
rs1183256756
|
0.00001
|
NM_001035.3(RYR2):c.2786G>A (p.Arg929His)
|
rs876657988
|
0.00001
|
NM_001035.3(RYR2):c.2808G>A (p.Ser936=)
|
rs1057521205
|
0.00001
|
NM_001035.3(RYR2):c.284T>A (p.Val95Glu)
|
rs900519025
|
0.00001
|
NM_001035.3(RYR2):c.2863G>A (p.Glu955Lys)
|
rs745798722
|
0.00001
|
NM_001035.3(RYR2):c.2904G>C (p.Lys968Asn)
|
rs768807940
|
0.00001
|
NM_001035.3(RYR2):c.2907T>C (p.Asn969=)
|
rs763800107
|
0.00001
|
NM_001035.3(RYR2):c.2922T>C (p.Ser974=)
|
rs750392459
|
0.00001
|
NM_001035.3(RYR2):c.294+13A>C
|
rs773161376
|
0.00001
|
NM_001035.3(RYR2):c.2941A>G (p.Met981Val)
|
rs768893657
|
0.00001
|
NM_001035.3(RYR2):c.2945A>G (p.Asp982Gly)
|
rs1461569961
|
0.00001
|
NM_001035.3(RYR2):c.2949G>A (p.Leu983=)
|
rs926827556
|
0.00001
|
NM_001035.3(RYR2):c.295-8C>T
|
rs764545272
|
0.00001
|
NM_001035.3(RYR2):c.2960A>C (p.Lys987Thr)
|
rs1294571823
|
0.00001
|
NM_001035.3(RYR2):c.2969C>T (p.Pro990Leu)
|
rs912594681
|
0.00001
|
NM_001035.3(RYR2):c.2978A>G (p.Glu993Gly)
|
rs760019189
|
0.00001
|
NM_001035.3(RYR2):c.2984T>C (p.Met995Thr)
|
rs1009381849
|
0.00001
|
NM_001035.3(RYR2):c.3015T>C (p.Asn1005=)
|
rs758290360
|
0.00001
|
NM_001035.3(RYR2):c.3026G>A (p.Arg1009Gln)
|
rs754812132
|
0.00001
|
NM_001035.3(RYR2):c.3037C>T (p.Arg1013Trp)
|
rs777740439
|
0.00001
|
NM_001035.3(RYR2):c.3057C>A (p.Gly1019=)
|
rs1343531428
|
0.00001
|
NM_001035.3(RYR2):c.3066+11A>G
|
rs764894788
|
0.00001
|
NM_001035.3(RYR2):c.3067-14G>C
|
rs757471501
|
0.00001
|
NM_001035.3(RYR2):c.3069C>T (p.Asp1023=)
|
rs751382226
|
0.00001
|
NM_001035.3(RYR2):c.3070G>T (p.Val1024Leu)
|
rs1291873158
|
0.00001
|
NM_001035.3(RYR2):c.3089C>T (p.Pro1030Leu)
|
rs1404965456
|
0.00001
|
NM_001035.3(RYR2):c.309+16A>G
|
rs886038386
|
0.00001
|
NM_001035.3(RYR2):c.310-16T>G
|
rs1558698164
|
0.00001
|
NM_001035.3(RYR2):c.310-5T>G
|
rs1487803250
|
0.00001
|
NM_001035.3(RYR2):c.3105C>T (p.Tyr1035=)
|
rs747358776
|
0.00001
|
NM_001035.3(RYR2):c.3108T>C (p.Thr1036=)
|
rs1439044859
|
0.00001
|
NM_001035.3(RYR2):c.3142G>A (p.Asp1048Asn)
|
rs1384422533
|
0.00001
|
NM_001035.3(RYR2):c.3151C>T (p.Arg1051Cys)
|
rs533330664
|
0.00001
|
NM_001035.3(RYR2):c.3154G>A (p.Glu1052Lys)
|
rs1271333166
|
0.00001
|
NM_001035.3(RYR2):c.3167C>T (p.Thr1056Met)
|
rs779146564
|
0.00001
|
NM_001035.3(RYR2):c.3181G>A (p.Gly1061Ser)
|
rs747447414
|
0.00001
|
NM_001035.3(RYR2):c.3214+9G>A
|
rs377240715
|
0.00001
|
NM_001035.3(RYR2):c.3220A>G (p.Arg1074Gly)
|
rs1559038380
|
0.00001
|
NM_001035.3(RYR2):c.3226G>A (p.Glu1076Lys)
|
rs781547572
|
0.00001
|
NM_001035.3(RYR2):c.3238G>A (p.Gly1080Ser)
|
rs727504969
|
0.00001
|
NM_001035.3(RYR2):c.3240C>T (p.Gly1080=)
|
rs745511565
|
0.00001
|
NM_001035.3(RYR2):c.3244G>A (p.Gly1082Arg)
|
rs774797663
|
0.00001
|
NM_001035.3(RYR2):c.326G>C (p.Gly109Ala)
|
rs1572014527
|
0.00001
|
NM_001035.3(RYR2):c.3271G>A (p.Glu1091Lys)
|
rs730880191
|
0.00001
|
NM_001035.3(RYR2):c.3294C>T (p.Ala1098=)
|
rs773622667
|
0.00001
|
NM_001035.3(RYR2):c.3295G>A (p.Gly1099Arg)
|
rs767849564
|
0.00001
|
NM_001035.3(RYR2):c.3400G>T (p.Ala1134Ser)
|
rs886046265
|
0.00001
|
NM_001035.3(RYR2):c.340C>G (p.Leu114Val)
|
rs759271857
|
0.00001
|
NM_001035.3(RYR2):c.3417C>T (p.Gly1139=)
|
rs1368724013
|
0.00001
|
NM_001035.3(RYR2):c.3424-4A>G
|
rs1170393191
|
0.00001
|
NM_001035.3(RYR2):c.3431G>A (p.Arg1144Gln)
|
rs193125030
|
0.00001
|
NM_001035.3(RYR2):c.3456T>C (p.Tyr1152=)
|
rs762130498
|
0.00001
|
NM_001035.3(RYR2):c.3506A>G (p.Asn1169Ser)
|
rs979486756
|
0.00001
|
NM_001035.3(RYR2):c.3513C>T (p.His1171=)
|
rs924029503
|
0.00001
|
NM_001035.3(RYR2):c.3514A>T (p.Thr1172Ser)
|
rs760782284
|
0.00001
|
NM_001035.3(RYR2):c.3517A>G (p.Met1173Val)
|
rs762372863
|
0.00001
|
NM_001035.3(RYR2):c.3537T>C (p.Gly1179=)
|
rs397516526
|
0.00001
|
NM_001035.3(RYR2):c.3594C>T (p.Gly1198=)
|
rs185212949
|
0.00001
|
NM_001035.3(RYR2):c.3598+16T>G
|
rs886038387
|
0.00001
|
NM_001035.3(RYR2):c.3599-13T>C
|
rs1420645453
|
0.00001
|
NM_001035.3(RYR2):c.3610G>A (p.Val1204Met)
|
rs1435421903
|
0.00001
|
NM_001035.3(RYR2):c.3622G>A (p.Gly1208Arg)
|
rs770286824
|
0.00001
|
NM_001035.3(RYR2):c.3638G>C (p.Gly1213Ala)
|
rs766838912
|
0.00001
|
NM_001035.3(RYR2):c.3648C>T (p.Asn1216=)
|
rs983874662
|
0.00001
|
NM_001035.3(RYR2):c.365G>A (p.Arg122His)
|
rs727503396
|
0.00001
|
NM_001035.3(RYR2):c.3674A>C (p.Lys1225Thr)
|
rs1185398824
|
0.00001
|
NM_001035.3(RYR2):c.3677A>G (p.Tyr1226Cys)
|
rs371124046
|
0.00001
|
NM_001035.3(RYR2):c.3707A>G (p.Tyr1236Cys)
|
rs1421115838
|
0.00001
|
NM_001035.3(RYR2):c.3729A>C (p.Thr1243=)
|
rs536080941
|
0.00001
|
NM_001035.3(RYR2):c.3735G>A (p.Arg1245=)
|
rs190884873
|
0.00001
|
NM_001035.3(RYR2):c.3767C>T (p.Pro1256Leu)
|
rs773915323
|
0.00001
|
NM_001035.3(RYR2):c.3805G>C (p.Glu1269Gln)
|
rs763766154
|
0.00001
|
NM_001035.3(RYR2):c.3807+20A>G
|
rs1377676188
|
0.00001
|
NM_001035.3(RYR2):c.3808-17G>A
|
rs374061574
|
0.00001
|
NM_001035.3(RYR2):c.3808-18C>T
|
rs996356470
|
0.00001
|
NM_001035.3(RYR2):c.3808-20A>G
|
rs1420964292
|
0.00001
|
NM_001035.3(RYR2):c.3808-9G>A
|
rs557880129
|
0.00001
|
NM_001035.3(RYR2):c.3823G>A (p.Gly1275Ser)
|
rs769294223
|
0.00001
|
NM_001035.3(RYR2):c.3839C>T (p.Ser1280Phe)
|
rs759424061
|
0.00001
|
NM_001035.3(RYR2):c.3844T>C (p.Cys1282Arg)
|
rs1057518304
|
0.00001
|
NM_001035.3(RYR2):c.3890C>T (p.Thr1297Ile)
|
rs746350036
|
0.00001
|
NM_001035.3(RYR2):c.3894T>G (p.Asp1298Glu)
|
rs1383564773
|
0.00001
|
NM_001035.3(RYR2):c.3898A>C (p.Met1300Leu)
|
rs769384124
|
0.00001
|
NM_001035.3(RYR2):c.3899T>C (p.Met1300Thr)
|
rs772739688
|
0.00001
|
NM_001035.3(RYR2):c.3910C>T (p.Leu1304=)
|
rs555317545
|
0.00001
|
NM_001035.3(RYR2):c.3920C>T (p.Pro1307Leu)
|
rs1412253468
|
0.00001
|
NM_001035.3(RYR2):c.3924C>T (p.Ile1308=)
|
rs761010650
|
0.00001
|
NM_001035.3(RYR2):c.3930C>T (p.Cys1310=)
|
rs764454542
|
0.00001
|
NM_001035.3(RYR2):c.3931G>A (p.Ala1311Thr)
|
rs368635274
|
0.00001
|
NM_001035.3(RYR2):c.3932C>T (p.Ala1311Val)
|
rs757471928
|
0.00001
|
NM_001035.3(RYR2):c.3939C>G (p.Val1313=)
|
rs897918125
|
0.00001
|
NM_001035.3(RYR2):c.3950C>T (p.Thr1317Met)
|
rs752107643
|
0.00001
|
NM_001035.3(RYR2):c.3955G>A (p.Ala1319Thr)
|
rs376526841
|
0.00001
|
NM_001035.3(RYR2):c.3958G>A (p.Gly1320Arg)
|
rs1264658238
|
0.00001
|
NM_001035.3(RYR2):c.3964C>T (p.Leu1322Phe)
|
rs770433289
|
0.00001
|
NM_001035.3(RYR2):c.3973G>C (p.Ala1325Pro)
|
rs1043523829
|
0.00001
|
NM_001035.3(RYR2):c.3987G>A (p.Gly1329=)
|
rs775470259
|
0.00001
|
NM_001035.3(RYR2):c.4010A>G (p.Tyr1337Cys)
|
rs765369749
|
0.00001
|
NM_001035.3(RYR2):c.401C>G (p.Ser134Cys)
|
rs768757680
|
0.00001
|
NM_001035.3(RYR2):c.4020T>A (p.Asp1340Glu)
|
rs1040456396
|
0.00001
|
NM_001035.3(RYR2):c.4078G>A (p.Asp1360Asn)
|
rs1274140033
|
0.00001
|
NM_001035.3(RYR2):c.4095T>G (p.Ala1365=)
|
rs376401462
|
0.00001
|
NM_001035.3(RYR2):c.4097C>A (p.Thr1366Asn)
|
rs531412940
|
0.00001
|
NM_001035.3(RYR2):c.409C>T (p.Arg137Trp)
|
rs761916230
|
0.00001
|
NM_001035.3(RYR2):c.4121A>G (p.Lys1374Arg)
|
rs1675089718
|
0.00001
|
NM_001035.3(RYR2):c.412T>G (p.Ser138Ala)
|
rs765875891
|
0.00001
|
NM_001035.3(RYR2):c.4161-17C>T
|
rs1237981976
|
0.00001
|
NM_001035.3(RYR2):c.4182G>A (p.Lys1394=)
|
rs953147627
|
0.00001
|
NM_001035.3(RYR2):c.4191C>T (p.Tyr1397=)
|
rs753181426
|
0.00001
|
NM_001035.3(RYR2):c.4209A>G (p.Ala1403=)
|
rs727505126
|
0.00001
|
NM_001035.3(RYR2):c.4215C>T (p.Leu1405=)
|
rs754504287
|
0.00001
|
NM_001035.3(RYR2):c.4241G>A (p.Arg1414Gln)
|
rs727504850
|
0.00001
|
NM_001035.3(RYR2):c.4266A>G (p.Gln1422=)
|
rs759662492
|
0.00001
|
NM_001035.3(RYR2):c.4274C>T (p.Thr1425Met)
|
rs761181641
|
0.00001
|
NM_001035.3(RYR2):c.4275+7G>T
|
rs1573005697
|
0.00001
|
NM_001035.3(RYR2):c.4276-10A>G
|
rs551064291
|
0.00001
|
NM_001035.3(RYR2):c.4280A>G (p.Tyr1427Cys)
|
rs1427196403
|
0.00001
|
NM_001035.3(RYR2):c.4294A>C (p.Ile1432Leu)
|
rs769163639
|
0.00001
|
NM_001035.3(RYR2):c.4305A>G (p.Gly1435=)
|
rs776968385
|
0.00001
|
NM_001035.3(RYR2):c.4359T>C (p.Tyr1453=)
|
rs1054102228
|
0.00001
|
NM_001035.3(RYR2):c.4366G>A (p.Gly1456Ser)
|
rs1265113691
|
0.00001
|
NM_001035.3(RYR2):c.4387C>T (p.Arg1463Cys)
|
rs764144130
|
0.00001
|
NM_001035.3(RYR2):c.4389C>T (p.Arg1463=)
|
rs1391863207
|
0.00001
|
NM_001035.3(RYR2):c.4398A>G (p.Thr1466=)
|
rs1431223559
|
0.00001
|
NM_001035.3(RYR2):c.4428G>A (p.Val1476=)
|
rs747148516
|
0.00001
|
NM_001035.3(RYR2):c.4444C>T (p.Arg1482Cys)
|
rs564869863
|
0.00001
|
NM_001035.3(RYR2):c.4452C>T (p.Asn1484=)
|
rs1291160405
|
0.00001
|
NM_001035.3(RYR2):c.4457A>G (p.Tyr1486Cys)
|
rs1353376223
|
0.00001
|
NM_001035.3(RYR2):c.4458T>C (p.Tyr1486=)
|
rs780368223
|
0.00001
|
NM_001035.3(RYR2):c.4498C>T (p.Arg1500Cys)
|
rs778394498
|
0.00001
|
NM_001035.3(RYR2):c.4499G>A (p.Arg1500His)
|
rs749719028
|
0.00001
|
NM_001035.3(RYR2):c.4503C>A (p.Asn1501Lys)
|
rs794728735
|
0.00001
|
NM_001035.3(RYR2):c.4507A>G (p.Asn1503Asp)
|
rs794728736
|
0.00001
|
NM_001035.3(RYR2):c.4538C>T (p.Ala1513Val)
|
rs895086218
|
0.00001
|
NM_001035.3(RYR2):c.4587A>G (p.Thr1529=)
|
rs373148393
|
0.00001
|
NM_001035.3(RYR2):c.4596+16T>C
|
rs755095790
|
0.00001
|
NM_001035.3(RYR2):c.4596+7G>A
|
rs1008000319
|
0.00001
|
NM_001035.3(RYR2):c.4626G>A (p.Ala1542=)
|
rs1272771676
|
0.00001
|
NM_001035.3(RYR2):c.463+10T>C
|
rs193922627
|
0.00001
|
NM_001035.3(RYR2):c.4641T>G (p.Ala1547=)
|
rs1676561693
|
0.00001
|
NM_001035.3(RYR2):c.4653T>C (p.Asn1551=)
|
rs759834317
|
0.00001
|
NM_001035.3(RYR2):c.4666G>A (p.Glu1556Lys)
|
rs1048532590
|
0.00001
|
NM_001035.3(RYR2):c.4668G>A (p.Glu1556=)
|
rs370332700
|
0.00001
|
NM_001035.3(RYR2):c.4677A>T (p.Arg1559Ser)
|
rs756330224
|
0.00001
|
NM_001035.3(RYR2):c.4680A>C (p.Ile1560=)
|
rs754412394
|
0.00001
|
NM_001035.3(RYR2):c.4683+18T>C
|
rs371394153
|
0.00001
|
NM_001035.3(RYR2):c.4683+7A>T
|
rs757658900
|
0.00001
|
NM_001035.3(RYR2):c.4684-4C>T
|
rs748788260
|
0.00001
|
NM_001035.3(RYR2):c.468G>A (p.Glu156=)
|
rs763840882
|
0.00001
|
NM_001035.3(RYR2):c.4700C>T (p.Ser1567Leu)
|
rs772008541
|
0.00001
|
NM_001035.3(RYR2):c.4701G>A (p.Ser1567=)
|
rs775379095
|
0.00001
|
NM_001035.3(RYR2):c.4710A>G (p.Leu1570=)
|
rs1401322778
|
0.00001
|
NM_001035.3(RYR2):c.4723C>T (p.His1575Tyr)
|
rs397516535
|
0.00001
|
NM_001035.3(RYR2):c.4732C>T (p.Pro1578Ser)
|
rs761852488
|
0.00001
|
NM_001035.3(RYR2):c.4752G>A (p.Pro1584=)
|
rs780111656
|
0.00001
|
NM_001035.3(RYR2):c.4753C>T (p.Arg1585Cys)
|
rs528206995
|
0.00001
|
NM_001035.3(RYR2):c.4754G>A (p.Arg1585His)
|
rs1392451418
|
0.00001
|
NM_001035.3(RYR2):c.4755C>T (p.Arg1585=)
|
rs768562077
|
0.00001
|
NM_001035.3(RYR2):c.4779C>T (p.His1593=)
|
rs769774527
|
0.00001
|
NM_001035.3(RYR2):c.4780G>A (p.Val1594Ile)
|
rs794728737
|
0.00001
|
NM_001035.3(RYR2):c.4791C>T (p.Ser1597=)
|
rs766910108
|
0.00001
|
NM_001035.3(RYR2):c.4793G>A (p.Arg1598Lys)
|
rs1056392680
|
0.00001
|
NM_001035.3(RYR2):c.48+11T>A
|
rs1273557361
|
0.00001
|
NM_001035.3(RYR2):c.4828C>T (p.Arg1610Ter)
|
rs794728738
|
0.00001
|
NM_001035.3(RYR2):c.4831A>G (p.Ile1611Val)
|
rs755572625
|
0.00001
|
NM_001035.3(RYR2):c.483C>T (p.Thr161=)
|
rs780513819
|
0.00001
|
NM_001035.3(RYR2):c.4840C>T (p.Arg1614Cys)
|
rs373079767
|
0.00001
|
NM_001035.3(RYR2):c.4841G>A (p.Arg1614His)
|
rs746943081
|
0.00001
|
NM_001035.3(RYR2):c.4846G>A (p.Gly1616Ser)
|
rs1414022182
|
0.00001
|
NM_001035.3(RYR2):c.4847G>A (p.Gly1616Asp)
|
rs1295709441
|
0.00001
|
NM_001035.3(RYR2):c.4850G>C (p.Trp1617Ser)
|
rs1677785308
|
0.00001
|
NM_001035.3(RYR2):c.4882A>G (p.Met1628Val)
|
rs757286828
|
0.00001
|
NM_001035.3(RYR2):c.489C>A (p.His163Gln)
|
rs1178843120
|
0.00001
|
NM_001035.3(RYR2):c.49-10C>T
|
rs760891474
|
0.00001
|
NM_001035.3(RYR2):c.49-8C>T
|
rs764876896
|
0.00001
|
NM_001035.3(RYR2):c.4904A>G (p.Glu1635Gly)
|
rs775882877
|
0.00001
|
NM_001035.3(RYR2):c.4905A>G (p.Glu1635=)
|
rs1028004368
|
0.00001
|
NM_001035.3(RYR2):c.4911A>G (p.Arg1637=)
|
rs1251055364
|
0.00001
|
NM_001035.3(RYR2):c.4950G>C (p.Leu1650Phe)
|
rs376251968
|
0.00001
|
NM_001035.3(RYR2):c.5046A>C (p.Glu1682Asp)
|
rs3766870
|
0.00001
|
NM_001035.3(RYR2):c.5056C>T (p.Leu1686Phe)
|
rs752684338
|
0.00001
|
NM_001035.3(RYR2):c.505C>T (p.Arg169Ter)
|
rs749930577
|
0.00001
|
NM_001035.3(RYR2):c.5102G>C (p.Gly1701Ala)
|
rs750602360
|
0.00001
|
NM_001035.3(RYR2):c.5136C>T (p.Ser1712=)
|
rs397516540
|
0.00001
|
NM_001035.3(RYR2):c.513A>G (p.Glu171=)
|
rs923459089
|
0.00001
|
NM_001035.3(RYR2):c.5149G>T (p.Ala1717Ser)
|
rs547829995
|
0.00001
|
NM_001035.3(RYR2):c.5198C>T (p.Thr1733Met)
|
rs750668049
|
0.00001
|
NM_001035.3(RYR2):c.5235A>G (p.Lys1745=)
|
rs755089780
|
0.00001
|
NM_001035.3(RYR2):c.5247A>G (p.Pro1749=)
|
rs779576294
|
0.00001
|
NM_001035.3(RYR2):c.5261G>C (p.Ser1754Thr)
|
rs397516542
|
0.00001
|
NM_001035.3(RYR2):c.5268C>G (p.Ser1756=)
|
rs768147036
|
0.00001
|
NM_001035.3(RYR2):c.5279G>A (p.Arg1760Gln)
|
rs765106198
|
0.00001
|
NM_001035.3(RYR2):c.5298C>T (p.Pro1766=)
|
rs570743152
|
0.00001
|
NM_001035.3(RYR2):c.5336G>A (p.Ser1779Asn)
|
rs778312204
|
0.00001
|
NM_001035.3(RYR2):c.5363A>C (p.Lys1788Thr)
|
rs779637196
|
0.00001
|
NM_001035.3(RYR2):c.5404G>A (p.Gly1802Ser)
|
rs773181830
|
0.00001
|
NM_001035.3(RYR2):c.5406C>T (p.Gly1802=)
|
rs1553522322
|
0.00001
|
NM_001035.3(RYR2):c.5411T>C (p.Leu1804Pro)
|
rs1411508789
|
0.00001
|
NM_001035.3(RYR2):c.5416G>A (p.Ala1806Thr)
|
rs767728159
|
0.00001
|
NM_001035.3(RYR2):c.5419C>T (p.Arg1807Trp)
|
rs752863160
|
0.00001
|
NM_001035.3(RYR2):c.5420G>A (p.Arg1807Gln)
|
rs730880192
|
0.00001
|
NM_001035.3(RYR2):c.5466C>T (p.Ile1822=)
|
rs1481865807
|
0.00001
|
NM_001035.3(RYR2):c.5487G>T (p.Leu1829=)
|
rs371250741
|
0.00001
|
NM_001035.3(RYR2):c.5499C>A (p.Ile1833=)
|
rs974906491
|
0.00001
|
NM_001035.3(RYR2):c.5542C>T (p.Pro1848Ser)
|
rs760731968
|
0.00001
|
NM_001035.3(RYR2):c.555C>T (p.Ser185=)
|
rs369484232
|
0.00001
|
NM_001035.3(RYR2):c.5575G>A (p.Glu1859Lys)
|
rs755584806
|
0.00001
|
NM_001035.3(RYR2):c.5589G>T (p.Thr1863=)
|
rs778971089
|
0.00001
|
NM_001035.3(RYR2):c.5590C>A (p.Leu1864Met)
|
rs1202498329
|
0.00001
|
NM_001035.3(RYR2):c.5595G>A (p.Glu1865=)
|
rs1054011849
|
0.00001
|
NM_001035.3(RYR2):c.5598A>G (p.Lys1866=)
|
rs1573126569
|
0.00001
|
NM_001035.3(RYR2):c.561C>T (p.Ser187=)
|
rs1303356039
|
0.00001
|
NM_001035.3(RYR2):c.5645A>G (p.Glu1882Gly)
|
rs376441643
|
0.00001
|
NM_001035.3(RYR2):c.5664G>C (p.Arg1888=)
|
rs758277755
|
0.00001
|
NM_001035.3(RYR2):c.5680C>A (p.Leu1894Ile)
|
rs555692728
|
0.00001
|
NM_001035.3(RYR2):c.569G>A (p.Arg190Lys)
|
rs1237664259
|
0.00001
|
NM_001035.3(RYR2):c.5700G>A (p.Glu1900=)
|
rs769862888
|
0.00001
|
NM_001035.3(RYR2):c.5710T>C (p.Leu1904=)
|
rs1286936034
|
0.00001
|
NM_001035.3(RYR2):c.5712G>A (p.Leu1904=)
|
rs377763336
|
0.00001
|
NM_001035.3(RYR2):c.5715+11C>T
|
rs766754503
|
0.00001
|
NM_001035.3(RYR2):c.5717T>C (p.Met1906Thr)
|
rs748307254
|
0.00001
|
NM_001035.3(RYR2):c.5751G>T (p.Gln1917His)
|
rs1259517167
|
0.00001
|
NM_001035.3(RYR2):c.5755C>T (p.Arg1919Trp)
|
rs771469528
|
0.00001
|
NM_001035.3(RYR2):c.5763G>A (p.Arg1921=)
|
rs886046270
|
0.00001
|
NM_001035.3(RYR2):c.579C>T (p.His193=)
|
rs1321878462
|
0.00001
|
NM_001035.3(RYR2):c.5821C>A (p.Arg1941Ser)
|
rs754811291
|
0.00001
|
NM_001035.3(RYR2):c.5824T>C (p.Phe1942Leu)
|
rs368669045
|
0.00001
|
NM_001035.3(RYR2):c.5874A>C (p.Thr1958=)
|
rs746302767
|
0.00001
|
NM_001035.3(RYR2):c.5916+9A>G
|
rs1002006336
|
0.00001
|
NM_001035.3(RYR2):c.5933A>G (p.Asn1978Ser)
|
rs773006920
|
0.00001
|
NM_001035.3(RYR2):c.5949A>C (p.Lys1983Asn)
|
rs1181887323
|
0.00001
|
NM_001035.3(RYR2):c.5977C>T (p.Arg1993Cys)
|
rs767406030
|
0.00001
|
NM_001035.3(RYR2):c.5978G>A (p.Arg1993His)
|
rs551362343
|
0.00001
|
NM_001035.3(RYR2):c.6023-7A>G
|
rs771502164
|
0.00001
|
NM_001035.3(RYR2):c.6042T>C (p.Asp2014=)
|
rs376907409
|
0.00001
|
NM_001035.3(RYR2):c.6054T>G (p.Asp2018Glu)
|
rs1396015766
|
0.00001
|
NM_001035.3(RYR2):c.6079G>A (p.Gly2027Arg)
|
rs1226663873
|
0.00001
|
NM_001035.3(RYR2):c.6096G>C (p.Leu2032=)
|
rs1482965096
|
0.00001
|
NM_001035.3(RYR2):c.6138A>G (p.Lys2046=)
|
rs1388384997
|
0.00001
|
NM_001035.3(RYR2):c.6140C>T (p.Pro2047Leu)
|
rs1464384648
|
0.00001
|
NM_001035.3(RYR2):c.6159A>G (p.Lys2053=)
|
rs779498979
|
0.00001
|
NM_001035.3(RYR2):c.6166+10A>G
|
rs776614601
|
0.00001
|
NM_001035.3(RYR2):c.6167-15A>G
|
rs1559136122
|
0.00001
|
NM_001035.3(RYR2):c.6167-3C>T
|
rs1327145604
|
0.00001
|
NM_001035.3(RYR2):c.6167-4G>A
|
rs1290343163
|
0.00001
|
NM_001035.3(RYR2):c.616G>A (p.Ala206Thr)
|
rs930769080
|
0.00001
|
NM_001035.3(RYR2):c.6174G>A (p.Leu2058=)
|
rs531705847
|
0.00001
|
NM_001035.3(RYR2):c.6185T>C (p.Ile2062Thr)
|
rs750073486
|
0.00001
|
NM_001035.3(RYR2):c.6203G>A (p.Arg2068Gln)
|
rs869025512
|
0.00001
|
NM_001035.3(RYR2):c.6230A>G (p.Asp2077Gly)
|
rs1415188748
|
0.00001
|
NM_001035.3(RYR2):c.625C>G (p.Gln209Glu)
|
rs749414350
|
0.00001
|
NM_001035.3(RYR2):c.6265C>T (p.His2089Tyr)
|
rs1057524513
|
0.00001
|
NM_001035.3(RYR2):c.6267T>C (p.His2089=)
|
rs1222494774
|
0.00001
|
NM_001035.3(RYR2):c.6269G>A (p.Arg2090Gln)
|
rs1379845021
|
0.00001
|
NM_001035.3(RYR2):c.6321G>A (p.Thr2107=)
|
rs764476121
|
0.00001
|
NM_001035.3(RYR2):c.6336C>T (p.Ser2112=)
|
rs373777614
|
0.00001
|
NM_001035.3(RYR2):c.6346A>G (p.Thr2116Ala)
|
rs780707255
|
0.00001
|
NM_001035.3(RYR2):c.6393T>C (p.Ser2131=)
|
rs370087757
|
0.00001
|
NM_001035.3(RYR2):c.6430C>T (p.Arg2144Cys)
|
rs770847446
|
0.00001
|
NM_001035.3(RYR2):c.6431G>A (p.Arg2144His)
|
rs1243083109
|
0.00001
|
NM_001035.3(RYR2):c.6443A>T (p.Asp2148Val)
|
rs1375995287
|
0.00001
|
NM_001035.3(RYR2):c.6468C>T (p.Tyr2156=)
|
rs1057522408
|
0.00001
|
NM_001035.3(RYR2):c.6504C>T (p.His2168=)
|
rs760237464
|
0.00001
|
NM_001035.3(RYR2):c.6519G>T (p.Glu2173Asp)
|
rs368920731
|
0.00001
|
NM_001035.3(RYR2):c.6534C>T (p.Val2178=)
|
rs904724019
|
0.00001
|
NM_001035.3(RYR2):c.6556-15A>G
|
rs1431223272
|
0.00001
|
NM_001035.3(RYR2):c.6606C>T (p.Tyr2202=)
|
rs1270857666
|
0.00001
|
NM_001035.3(RYR2):c.6618A>C (p.Ile2206=)
|
rs778352961
|
0.00001
|
NM_001035.3(RYR2):c.6688+13C>A
|
rs1262322008
|
0.00001
|
NM_001035.3(RYR2):c.6773G>A (p.Arg2258His)
|
rs779289104
|
0.00001
|
NM_001035.3(RYR2):c.6779C>T (p.Pro2260Leu)
|
rs746319435
|
0.00001
|
NM_001035.3(RYR2):c.6786A>G (p.Leu2262=)
|
rs747343896
|
0.00001
|
NM_001035.3(RYR2):c.6793-17_6793-16dup
|
rs761591314
|
0.00001
|
NM_001035.3(RYR2):c.6811G>A (p.Gly2271Ser)
|
rs375371340
|
0.00001
|
NM_001035.3(RYR2):c.6825A>G (p.Gln2275=)
|
rs529339356
|
0.00001
|
NM_001035.3(RYR2):c.6862A>G (p.Ile2288Val)
|
rs1228663009
|
0.00001
|
NM_001035.3(RYR2):c.6903T>C (p.Phe2301=)
|
rs1681104404
|
0.00001
|
NM_001035.3(RYR2):c.6907A>C (p.Arg2303=)
|
rs1185651821
|
0.00001
|
NM_001035.3(RYR2):c.6952A>G (p.Asn2318Asp)
|
rs1006334960
|
0.00001
|
NM_001035.3(RYR2):c.6957C>T (p.Val2319=)
|
rs768367111
|
0.00001
|
NM_001035.3(RYR2):c.6976C>T (p.Arg2326Trp)
|
rs1207293121
|
0.00001
|
NM_001035.3(RYR2):c.6981G>A (p.Arg2327=)
|
rs1198957149
|
0.00001
|
NM_001035.3(RYR2):c.6997C>A (p.Pro2333Thr)
|
rs370137005
|
0.00001
|
NM_001035.3(RYR2):c.7029T>A (p.Leu2343=)
|
rs1376856675
|
0.00001
|
NM_001035.3(RYR2):c.7040T>C (p.Met2347Thr)
|
rs1177415020
|
0.00001
|
NM_001035.3(RYR2):c.7055A>G (p.Lys2352Arg)
|
rs1378161090
|
0.00001
|
NM_001035.3(RYR2):c.7057A>G (p.Ile2353Val)
|
rs375356774
|
0.00001
|
NM_001035.3(RYR2):c.7117G>T (p.Asp2373Tyr)
|
rs397516548
|
0.00001
|
NM_001035.3(RYR2):c.7185G>A (p.Leu2395=)
|
rs769210153
|
0.00001
|
NM_001035.3(RYR2):c.7220A>C (p.His2407Pro)
|
rs1197580766
|
0.00001
|
NM_001035.3(RYR2):c.7230T>C (p.His2410=)
|
rs754982634
|
0.00001
|
NM_001035.3(RYR2):c.7234G>A (p.Gly2412Arg)
|
rs550534270
|
0.00001
|
NM_001035.3(RYR2):c.7236G>A (p.Gly2412=)
|
rs1553265780
|
0.00001
|
NM_001035.3(RYR2):c.7260G>A (p.Arg2420=)
|
rs771684537
|
0.00001
|
NM_001035.3(RYR2):c.7290A>G (p.Gly2430=)
|
rs765196007
|
0.00001
|
NM_001035.3(RYR2):c.7302C>T (p.Gly2434=)
|
rs766592875
|
0.00001
|
NM_001035.3(RYR2):c.7359A>G (p.Glu2453=)
|
rs779456443
|
0.00001
|
NM_001035.3(RYR2):c.7373C>T (p.Ala2458Val)
|
rs768478443
|
0.00001
|
NM_001035.3(RYR2):c.7374G>A (p.Ala2458=)
|
rs780891381
|
0.00001
|
NM_001035.3(RYR2):c.7377G>A (p.Gly2459=)
|
rs747614796
|
0.00001
|
NM_001035.3(RYR2):c.737C>T (p.Thr246Ile)
|
rs757478498
|
0.00001
|
NM_001035.3(RYR2):c.7443A>G (p.Gln2481=)
|
rs759314800
|
0.00001
|
NM_001035.3(RYR2):c.7512+14G>A
|
rs748775701
|
0.00001
|
NM_001035.3(RYR2):c.7512G>A (p.Thr2504=)
|
rs1682411061
|
0.00001
|
NM_001035.3(RYR2):c.7513-4T>C
|
rs751840788
|
0.00001
|
NM_001035.3(RYR2):c.7528A>G (p.Thr2510Ala)
|
rs777279244
|
0.00001
|
NM_001035.3(RYR2):c.7529C>T (p.Thr2510Ile)
|
rs748865411
|
0.00001
|
NM_001035.3(RYR2):c.7550A>G (p.Asn2517Ser)
|
rs1314129285
|
0.00001
|
NM_001035.3(RYR2):c.7570G>A (p.Val2524Ile)
|
rs934248102
|
0.00001
|
NM_001035.3(RYR2):c.7578A>G (p.Pro2526=)
|
rs763555863
|
0.00001
|
NM_001035.3(RYR2):c.75C>T (p.Thr25=)
|
rs751027523
|
0.00001
|
NM_001035.3(RYR2):c.7621C>A (p.His2541Asn)
|
rs763814352
|
0.00001
|
NM_001035.3(RYR2):c.7654G>A (p.Val2552Met)
|
rs746822781
|
0.00001
|
NM_001035.3(RYR2):c.7658A>G (p.Tyr2553Cys)
|
rs1358268703
|
0.00001
|
NM_001035.3(RYR2):c.7696C>T (p.Arg2566Trp)
|
rs773475551
|
0.00001
|
NM_001035.3(RYR2):c.769C>T (p.Arg257Trp)
|
rs750477551
|
0.00001
|
NM_001035.3(RYR2):c.773+18T>C
|
rs758435186
|
0.00001
|
NM_001035.3(RYR2):c.7733+12A>C
|
rs1024864893
|
0.00001
|
NM_001035.3(RYR2):c.7733+3G>A
|
rs1014182598
|
0.00001
|
NM_001035.3(RYR2):c.7750A>G (p.Met2584Val)
|
rs772541555
|
0.00001
|
NM_001035.3(RYR2):c.7782T>C (p.Phe2594=)
|
rs1320297410
|
0.00001
|
NM_001035.3(RYR2):c.7807G>A (p.Ala2603Thr)
|
rs59331340
|
0.00001
|
NM_001035.3(RYR2):c.7825-5C>T
|
rs1288446861
|
0.00001
|
NM_001035.3(RYR2):c.7936T>A (p.Trp2646Arg)
|
rs769118599
|
0.00001
|
NM_001035.3(RYR2):c.7940G>A (p.Gly2647Asp)
|
rs776908944
|
0.00001
|
NM_001035.3(RYR2):c.7955T>A (p.Leu2652Gln)
|
rs748531950
|
0.00001
|
NM_001035.3(RYR2):c.7955T>C (p.Leu2652Pro)
|
rs748531950
|
0.00001
|
NM_001035.3(RYR2):c.795C>T (p.Gly265=)
|
rs189449390
|
0.00001
|
NM_001035.3(RYR2):c.796G>A (p.Ala266Thr)
|
rs373326624
|
0.00001
|
NM_001035.3(RYR2):c.8019G>A (p.Ala2673=)
|
rs745484020
|
0.00001
|
NM_001035.3(RYR2):c.8027T>C (p.Leu2676Ser)
|
rs1338788038
|
0.00001
|
NM_001035.3(RYR2):c.8028G>A (p.Leu2676=)
|
rs775159757
|
0.00001
|
NM_001035.3(RYR2):c.8058C>T (p.Val2686=)
|
rs761566087
|
0.00001
|
NM_001035.3(RYR2):c.8063T>A (p.Met2688Lys)
|
rs1257768473
|
0.00001
|
NM_001035.3(RYR2):c.8065A>G (p.Met2689Val)
|
rs1440224644
|
0.00001
|
NM_001035.3(RYR2):c.8075A>G (p.Gln2692Arg)
|
rs370072276
|
0.00001
|
NM_001035.3(RYR2):c.8083A>G (p.Met2695Val)
|
rs886959086
|
0.00001
|
NM_001035.3(RYR2):c.808C>T (p.His270Tyr)
|
rs745558219
|
0.00001
|
NM_001035.3(RYR2):c.8107C>A (p.Pro2703Thr)
|
rs763186606
|
0.00001
|
NM_001035.3(RYR2):c.8129+20C>A
|
rs755080362
|
0.00001
|
NM_001035.3(RYR2):c.8130-5C>T
|
rs1683411935
|
0.00001
|
NM_001035.3(RYR2):c.8143G>A (p.Glu2715Lys)
|
rs756472432
|
0.00001
|
NM_001035.3(RYR2):c.8149T>C (p.Leu2717=)
|
rs1296293752
|
0.00001
|
NM_001035.3(RYR2):c.819C>T (p.Ser273=)
|
rs746461178
|
0.00001
|
NM_001035.3(RYR2):c.8209-9T>C
|
rs1184943114
|
0.00001
|
NM_001035.3(RYR2):c.8228A>G (p.Tyr2743Cys)
|
rs368952500
|
0.00001
|
NM_001035.3(RYR2):c.8269A>G (p.Met2757Val)
|
rs376015452
|
0.00001
|
NM_001035.3(RYR2):c.8283G>A (p.Lys2761=)
|
rs780778878
|
0.00001
|
NM_001035.3(RYR2):c.8287T>C (p.Leu2763=)
|
rs1057520868
|
0.00001
|
NM_001035.3(RYR2):c.8291C>G (p.Ser2764Cys)
|
rs769728229
|
0.00001
|
NM_001035.3(RYR2):c.8298+16T>C
|
rs775650063
|
0.00001
|
NM_001035.3(RYR2):c.8298+5G>A
|
rs773129405
|
0.00001
|
NM_001035.3(RYR2):c.8298+6G>C
|
rs915760671
|
0.00001
|
NM_001035.3(RYR2):c.8310T>G (p.Ile2770Met)
|
rs974847063
|
0.00001
|
NM_001035.3(RYR2):c.8314C>T (p.Arg2772Cys)
|
rs754379518
|
0.00001
|
NM_001035.3(RYR2):c.8325C>T (p.Ile2775=)
|
rs1474322992
|
0.00001
|
NM_001035.3(RYR2):c.8363G>A (p.Arg2788Lys)
|
rs1374332710
|
0.00001
|
NM_001035.3(RYR2):c.836C>A (p.Thr279Lys)
|
rs754312807
|
0.00001
|
NM_001035.3(RYR2):c.836C>T (p.Thr279Met)
|
rs754312807
|
0.00001
|
NM_001035.3(RYR2):c.8377C>T (p.Arg2793Trp)
|
rs373172640
|
0.00001
|
NM_001035.3(RYR2):c.8392A>T (p.Met2798Leu)
|
rs1275797500
|
0.00001
|
NM_001035.3(RYR2):c.8414G>A (p.Arg2805His)
|
rs1247067433
|
0.00001
|
NM_001035.3(RYR2):c.8417G>A (p.Arg2806His)
|
rs955927781
|
0.00001
|
NM_001035.3(RYR2):c.8434C>G (p.Gln2812Glu)
|
rs377285717
|
0.00001
|
NM_001035.3(RYR2):c.8450C>T (p.Ala2817Val)
|
rs765782802
|
0.00001
|
NM_001035.3(RYR2):c.848+1G>A
|
rs772984053
|
0.00001
|
NM_001035.3(RYR2):c.8482A>C (p.Met2828Leu)
|
rs948094250
|
0.00001
|
NM_001035.3(RYR2):c.8486G>A (p.Ser2829Asn)
|
rs752268870
|
0.00001
|
NM_001035.3(RYR2):c.848C>T (p.Ala283Val)
|
rs1163526442
|
0.00001
|
NM_001035.3(RYR2):c.849-10T>C
|
rs771173251
|
0.00001
|
NM_001035.3(RYR2):c.849-12del
|
rs765156667
|
0.00001
|
NM_001035.3(RYR2):c.8493T>C (p.Val2831=)
|
rs755660659
|
0.00001
|
NM_001035.3(RYR2):c.8496A>G (p.Thr2832=)
|
rs375915461
|
0.00001
|
NM_001035.3(RYR2):c.8559A>C (p.Ala2853=)
|
rs1381591533
|
0.00001
|
NM_001035.3(RYR2):c.8568G>A (p.Lys2856=)
|
rs887194766
|
0.00001
|
NM_001035.3(RYR2):c.8583G>A (p.Glu2861=)
|
rs1312234082
|
0.00001
|
NM_001035.3(RYR2):c.8591-6T>C
|
rs371383631
|
0.00001
|
NM_001035.3(RYR2):c.8606C>T (p.Pro2869Leu)
|
rs374318917
|
0.00001
|
NM_001035.3(RYR2):c.8621A>G (p.Tyr2874Cys)
|
rs1481998485
|
0.00001
|
NM_001035.3(RYR2):c.8631G>A (p.Leu2877=)
|
rs1060503848
|
0.00001
|
NM_001035.3(RYR2):c.8652G>A (p.Lys2884=)
|
rs758284122
|
0.00001
|
NM_001035.3(RYR2):c.865A>G (p.Ile289Val)
|
rs767673456
|
0.00001
|
NM_001035.3(RYR2):c.8681A>G (p.Lys2894Arg)
|
rs1374749880
|
0.00001
|
NM_001035.3(RYR2):c.8714+13A>G
|
rs876657579
|
0.00001
|
NM_001035.3(RYR2):c.8714+20A>G
|
rs1176577543
|
0.00001
|
NM_001035.3(RYR2):c.8714+9A>T
|
rs541149328
|
0.00001
|
NM_001035.3(RYR2):c.8715-16_8715-14dup
|
rs1236198880
|
0.00001
|
NM_001035.3(RYR2):c.8715-7C>G
|
rs1015823961
|
0.00001
|
NM_001035.3(RYR2):c.8734C>T (p.Leu2912=)
|
rs772605413
|
0.00001
|
NM_001035.3(RYR2):c.8736G>A (p.Leu2912=)
|
rs762521873
|
0.00001
|
NM_001035.3(RYR2):c.876A>T (p.Gly292=)
|
rs1306804742
|
0.00001
|
NM_001035.3(RYR2):c.8791C>T (p.Arg2931Cys)
|
rs777983238
|
0.00001
|
NM_001035.3(RYR2):c.8792G>T (p.Arg2931Leu)
|
rs905226907
|
0.00001
|
NM_001035.3(RYR2):c.8805A>G (p.Glu2935=)
|
rs915071961
|
0.00001
|
NM_001035.3(RYR2):c.8816A>G (p.Tyr2939Cys)
|
rs375408791
|
0.00001
|
NM_001035.3(RYR2):c.881C>T (p.Pro294Leu)
|
rs750542606
|
0.00001
|
NM_001035.3(RYR2):c.8831-4A>G
|
rs1253963504
|
0.00001
|
NM_001035.3(RYR2):c.8879T>C (p.Ile2960Thr)
|
rs759048462
|
0.00001
|
NM_001035.3(RYR2):c.8896-9T>C
|
rs773401697
|
0.00001
|
NM_001035.3(RYR2):c.8899G>A (p.Val2967Ile)
|
rs751546090
|
0.00001
|
NM_001035.3(RYR2):c.893G>A (p.Arg298His)
|
rs754259295
|
0.00001
|
NM_001035.3(RYR2):c.894C>T (p.Arg298=)
|
rs758606310
|
0.00001
|
NM_001035.3(RYR2):c.8956G>A (p.Ala2986Thr)
|
rs745482544
|
0.00001
|
NM_001035.3(RYR2):c.8993A>G (p.Asn2998Ser)
|
rs1243409978
|
0.00001
|
NM_001035.3(RYR2):c.9021A>G (p.Leu3007=)
|
rs748115355
|
0.00001
|
NM_001035.3(RYR2):c.9050A>G (p.His3017Arg)
|
rs777560001
|
0.00001
|
NM_001035.3(RYR2):c.9052A>G (p.Arg3018Gly)
|
rs748968052
|
0.00001
|
NM_001035.3(RYR2):c.9129-18C>G
|
rs780255237
|
0.00001
|
NM_001035.3(RYR2):c.9129-5T>C
|
rs1687846483
|
0.00001
|
NM_001035.3(RYR2):c.9138G>A (p.Met3046Ile)
|
rs867521152
|
0.00001
|
NM_001035.3(RYR2):c.9156T>C (p.Ser3052=)
|
rs760836447
|
0.00001
|
NM_001035.3(RYR2):c.916T>G (p.Leu306Val)
|
rs1159486360
|
0.00001
|
NM_001035.3(RYR2):c.9213C>T (p.Thr3071=)
|
rs759125855
|
0.00001
|
NM_001035.3(RYR2):c.9246C>T (p.His3082=)
|
rs1409285303
|
0.00001
|
NM_001035.3(RYR2):c.9282C>T (p.Ile3094=)
|
rs1391890714
|
0.00001
|
NM_001035.3(RYR2):c.9284A>G (p.Asn3095Ser)
|
rs778591641
|
0.00001
|
NM_001035.3(RYR2):c.9293C>T (p.Thr3098Ile)
|
rs1227241969
|
0.00001
|
NM_001035.3(RYR2):c.9295G>C (p.Val3099Leu)
|
rs745616771
|
0.00001
|
NM_001035.3(RYR2):c.9329A>C (p.Glu3110Ala)
|
rs1419674808
|
0.00001
|
NM_001035.3(RYR2):c.9338G>A (p.Gly3113Asp)
|
rs770278770
|
0.00001
|
NM_001035.3(RYR2):c.9351C>T (p.Phe3117=)
|
rs773455753
|
0.00001
|
NM_001035.3(RYR2):c.9352G>A (p.Gly3118Arg)
|
rs730880194
|
0.00001
|
NM_001035.3(RYR2):c.9367+3A>G
|
rs767212566
|
0.00001
|
NM_001035.3(RYR2):c.939C>T (p.Asn313=)
|
rs925308875
|
0.00001
|
NM_001035.3(RYR2):c.9407G>A (p.Ser3136Asn)
|
rs748194372
|
0.00001
|
NM_001035.3(RYR2):c.9414T>C (p.Tyr3138=)
|
rs770274059
|
0.00001
|
NM_001035.3(RYR2):c.9425C>A (p.Thr3142Asn)
|
rs1299273877
|
0.00001
|
NM_001035.3(RYR2):c.9432G>A (p.Lys3144=)
|
rs367780360
|
0.00001
|
NM_001035.3(RYR2):c.9449+3A>G
|
rs1688012992
|
0.00001
|
NM_001035.3(RYR2):c.9454C>T (p.Arg3152Cys)
|
rs181105904
|
0.00001
|
NM_001035.3(RYR2):c.9492T>G (p.Gly3164=)
|
rs1252667379
|
0.00001
|
NM_001035.3(RYR2):c.9506C>T (p.Ala3169Val)
|
rs1411593172
|
0.00001
|
NM_001035.3(RYR2):c.9549C>T (p.Ile3183=)
|
rs1360654111
|
0.00001
|
NM_001035.3(RYR2):c.9551A>G (p.Tyr3184Cys)
|
rs772804208
|
0.00001
|
NM_001035.3(RYR2):c.95A>C (p.Gln32Pro)
|
rs909314611
|
0.00001
|
NM_001035.3(RYR2):c.9603G>A (p.Val3201=)
|
rs369285719
|
0.00001
|
NM_001035.3(RYR2):c.9621C>T (p.Asn3207=)
|
rs1370012835
|
0.00001
|
NM_001035.3(RYR2):c.9625C>A (p.Pro3209Thr)
|
rs767375014
|
0.00001
|
NM_001035.3(RYR2):c.9626C>T (p.Pro3209Leu)
|
rs956317332
|
0.00001
|
NM_001035.3(RYR2):c.9627G>A (p.Pro3209=)
|
rs377730320
|
0.00001
|
NM_001035.3(RYR2):c.9667G>A (p.Glu3223Lys)
|
rs556291797
|
0.00001
|
NM_001035.3(RYR2):c.9669G>C (p.Glu3223Asp)
|
rs377626309
|
0.00001
|
NM_001035.3(RYR2):c.9679C>T (p.Arg3227Cys)
|
rs747271394
|
0.00001
|
NM_001035.3(RYR2):c.9680G>A (p.Arg3227His)
|
rs755897867
|
0.00001
|
NM_001035.3(RYR2):c.9686C>T (p.Thr3229Ile)
|
rs1688441480
|
0.00001
|
NM_001035.3(RYR2):c.9691A>G (p.Met3231Val)
|
rs374899980
|
0.00001
|
NM_001035.3(RYR2):c.9692T>C (p.Met3231Thr)
|
rs1472732790
|
0.00001
|
NM_001035.3(RYR2):c.9703A>G (p.Met3235Val)
|
rs773957909
|
0.00001
|
NM_001035.3(RYR2):c.9742C>T (p.Arg3248Cys)
|
rs1290534109
|
0.00001
|
NM_001035.3(RYR2):c.9768C>T (p.Asn3256=)
|
rs574525966
|
0.00001
|
NM_001035.3(RYR2):c.9772C>T (p.Pro3258Ser)
|
rs368028300
|
0.00001
|
NM_001035.3(RYR2):c.9778C>T (p.Arg3260Trp)
|
rs765325906
|
0.00001
|
NM_001035.3(RYR2):c.9779G>A (p.Arg3260Gln)
|
rs750415021
|
0.00001
|
NM_001035.3(RYR2):c.9813G>A (p.Glu3271=)
|
rs757310700
|
0.00001
|
NM_001035.3(RYR2):c.9817A>G (p.Met3273Val)
|
rs1365049763
|
0.00001
|
NM_001035.3(RYR2):c.9841T>C (p.Leu3281=)
|
rs786205424
|
0.00001
|
NM_001035.3(RYR2):c.985T>C (p.Phe329Leu)
|
rs911638241
|
0.00001
|
NM_001035.3(RYR2):c.9872A>T (p.Asp3291Val)
|
rs1209752961
|
0.00001
|
NM_001035.3(RYR2):c.9874G>A (p.Glu3292Lys)
|
rs553445235
|
0.00001
|
NM_001035.3(RYR2):c.9901+11G>A
|
rs765377031
|
0.00001
|
NM_001035.3(RYR2):c.9902-14C>T
|
rs1190539351
|
0.00001
|
NM_001035.3(RYR2):c.9902-7T>C
|
rs1026024594
|
0.00001
|
NM_001035.3(RYR2):c.9903G>A (p.Val3301=)
|
rs756970130
|
0.00001
|
NM_001035.3(RYR2):c.9911A>G (p.Gln3304Arg)
|
rs794728766
|
0.00001
|
NM_001035.3(RYR2):c.9927A>G (p.Lys3309=)
|
rs184937795
|
0.00001
|
NM_001035.3(RYR2):c.9936T>A (p.Pro3312=)
|
rs967337973
|
0.00001
|
NM_001035.3(RYR2):c.9942C>G (p.Leu3314=)
|
rs746973997
|
0.00001
|
NM_001035.3(RYR2):c.994C>T (p.Arg332Trp)
|
rs876657995
|
0.00001
|
NM_001035.3(RYR2):c.995G>A (p.Arg332Gln)
|
rs1558793119
|
0.00001
|
NM_001035.3(RYR2):c.9962C>T (p.Pro3321Leu)
|
rs747933306
|
0.00001
|
NM_001035.3(RYR2):c.9993T>C (p.Ala3331=)
|
rs369150213
|
0.00001
|
NM_001035.3(RYR2):c.9995C>T (p.Thr3332Met)
|
rs774437805
|
0.00001
|
NM_001232.4(CASQ2):c.1015-10C>T
|
rs760797081
|
0.00001
|
NM_001232.4(CASQ2):c.1050C>T (p.Asp350=)
|
rs758060229
|
0.00001
|
NM_001232.4(CASQ2):c.1052A>G (p.Asp351Gly)
|
rs200899037
|
0.00001
|
NM_001232.4(CASQ2):c.1081T>A (p.Trp361Arg)
|
rs375811174
|
0.00001
|
NM_001232.4(CASQ2):c.111T>C (p.Leu37=)
|
rs1317500264
|
0.00001
|
NM_001232.4(CASQ2):c.1136A>T (p.Asp379Val)
|
rs940257382
|
0.00001
|
NM_001232.4(CASQ2):c.1150A>G (p.Asn384Asp)
|
rs772619751
|
0.00001
|
NM_001232.4(CASQ2):c.128A>G (p.Lys43Arg)
|
rs1163471411
|
0.00001
|
NM_001232.4(CASQ2):c.133G>T (p.Val45Phe)
|
rs746405346
|
0.00001
|
NM_001232.4(CASQ2):c.172G>A (p.Glu58Lys)
|
rs376824588
|
0.00001
|
NM_001232.4(CASQ2):c.205C>G (p.Gln69Glu)
|
rs761862949
|
0.00001
|
NM_001232.4(CASQ2):c.210C>G (p.Phe70Leu)
|
rs774492523
|
0.00001
|
NM_001232.4(CASQ2):c.225C>T (p.Ile75=)
|
rs1373884863
|
0.00001
|
NM_001232.4(CASQ2):c.227T>C (p.Val76Ala)
|
rs1649199632
|
0.00001
|
NM_001232.4(CASQ2):c.229C>T (p.Leu77Phe)
|
rs781778467
|
0.00001
|
NM_001232.4(CASQ2):c.257A>G (p.His86Arg)
|
rs372587044
|
0.00001
|
NM_001232.4(CASQ2):c.281T>C (p.Val94Ala)
|
rs755766840
|
0.00001
|
NM_001232.4(CASQ2):c.289A>G (p.Lys97Glu)
|
rs750159744
|
0.00001
|
NM_001232.4(CASQ2):c.319+18G>A
|
rs757103068
|
0.00001
|
NM_001232.4(CASQ2):c.319+20T>C
|
rs751551798
|
0.00001
|
NM_001232.4(CASQ2):c.333A>G (p.Glu111=)
|
rs727502910
|
0.00001
|
NM_001232.4(CASQ2):c.361C>T (p.Arg121Cys)
|
rs570840019
|
0.00001
|
NM_001232.4(CASQ2):c.409T>C (p.Phe137Leu)
|
rs762328417
|
0.00001
|
NM_001232.4(CASQ2):c.449G>T (p.Ser150Ile)
|
rs772041539
|
0.00001
|
NM_001232.4(CASQ2):c.469G>C (p.Ala157Pro)
|
rs779063209
|
0.00001
|
NM_001232.4(CASQ2):c.482T>C (p.Ile161Thr)
|
rs151201435
|
0.00001
|
NM_001232.4(CASQ2):c.492C>T (p.Tyr164=)
|
rs886038422
|
0.00001
|
NM_001232.4(CASQ2):c.495C>T (p.Ile165=)
|
rs1447782106
|
0.00001
|
NM_001232.4(CASQ2):c.501C>G (p.Leu167=)
|
rs146051391
|
0.00001
|
NM_001232.4(CASQ2):c.518G>T (p.Ser173Ile)
|
rs786205790
|
0.00001
|
NM_001232.4(CASQ2):c.533-12T>G
|
rs774246167
|
0.00001
|
NM_001232.4(CASQ2):c.533-15T>C
|
rs370268584
|
0.00001
|
NM_001232.4(CASQ2):c.533-20A>G
|
rs760173068
|
0.00001
|
NM_001232.4(CASQ2):c.576C>A (p.Tyr192Ter)
|
rs758748280
|
0.00001
|
NM_001232.4(CASQ2):c.606+7_606+9del
|
rs752653901
|
0.00001
|
NM_001232.4(CASQ2):c.615G>T (p.Lys205Asn)
|
rs758082383
|
0.00001
|
NM_001232.4(CASQ2):c.645C>T (p.Asp215=)
|
rs1320292050
|
0.00001
|
NM_001232.4(CASQ2):c.702A>G (p.Glu234=)
|
rs756693726
|
0.00001
|
NM_001232.4(CASQ2):c.711G>T (p.Leu237=)
|
rs777363402
|
0.00001
|
NM_001232.4(CASQ2):c.733C>T (p.Gln245Ter)
|
rs754834466
|
0.00001
|
NM_001232.4(CASQ2):c.737+19G>C
|
rs761915819
|
0.00001
|
NM_001232.4(CASQ2):c.738-19T>C
|
rs759948112
|
0.00001
|
NM_001232.4(CASQ2):c.759C>T (p.Arg253=)
|
rs1210277732
|
0.00001
|
NM_001232.4(CASQ2):c.783G>A (p.Trp261Ter)
|
rs776874142
|
0.00001
|
NM_001232.4(CASQ2):c.784-11T>G
|
rs761150514
|
0.00001
|
NM_001232.4(CASQ2):c.784-19T>C
|
rs765442639
|
0.00001
|
NM_001232.4(CASQ2):c.793T>G (p.Leu265Val)
|
rs772419873
|
0.00001
|
NM_001232.4(CASQ2):c.839-2A>G
|
rs1338756025
|
0.00001
|
NM_001232.4(CASQ2):c.83A>G (p.Tyr28Cys)
|
rs1230753325
|
0.00001
|
NM_001232.4(CASQ2):c.846C>T (p.Tyr282=)
|
rs764692110
|
0.00001
|
NM_001232.4(CASQ2):c.862C>G (p.Leu288Val)
|
rs772096506
|
0.00001
|
NM_001232.4(CASQ2):c.877C>T (p.Arg293Trp)
|
rs201306936
|
0.00001
|
NM_001232.4(CASQ2):c.884A>G (p.Asn295Ser)
|
rs781565627
|
0.00001
|
NM_001232.4(CASQ2):c.903G>A (p.Leu301=)
|
rs1350273999
|
0.00001
|
NM_001232.4(CASQ2):c.912G>A (p.Leu304=)
|
rs146074006
|
0.00001
|
NM_001232.4(CASQ2):c.939+1G>T
|
rs905985075
|
0.00001
|
NM_001232.4(CASQ2):c.957G>A (p.Glu319=)
|
rs758803168
|
0.00001
|
NM_001232.4(CASQ2):c.971T>C (p.Ile324Thr)
|
rs369403991
|
0.00001
|
NM_001232.4(CASQ2):c.98G>A (p.Arg33Gln)
|
rs749547712
|
0.00001
|
NM_006073.4(TRDN):c.1018G>A (p.Glu340Lys)
|
rs778821180
|
0.00001
|
NM_006073.4(TRDN):c.1051+7C>A
|
rs767743181
|
0.00001
|
NM_006073.4(TRDN):c.1052-9del
|
rs1404718387
|
0.00001
|
NM_006073.4(TRDN):c.1060A>G (p.Lys354Glu)
|
rs761972576
|
0.00001
|
NM_006073.4(TRDN):c.1083G>C (p.Gly361=)
|
rs878854815
|
0.00001
|
NM_006073.4(TRDN):c.1101A>G (p.Ala367=)
|
rs1186052488
|
0.00001
|
NM_006073.4(TRDN):c.1106-16A>G
|
rs1195466991
|
0.00001
|
NM_006073.4(TRDN):c.1108G>A (p.Ala370Thr)
|
rs1781990629
|
0.00001
|
NM_006073.4(TRDN):c.1115A>G (p.Lys372Arg)
|
rs1259355217
|
0.00001
|
NM_006073.4(TRDN):c.1130A>G (p.Lys377Arg)
|
rs750876367
|
0.00001
|
NM_006073.4(TRDN):c.1135+10A>T
|
rs765785141
|
0.00001
|
NM_006073.4(TRDN):c.1136-14C>T
|
rs1781747541
|
0.00001
|
NM_006073.4(TRDN):c.1136-19T>C
|
rs1454829896
|
0.00001
|
NM_006073.4(TRDN):c.1136-7T>C
|
rs1060504472
|
0.00001
|
NM_006073.4(TRDN):c.1148C>T (p.Thr383Ile)
|
rs780744224
|
0.00001
|
NM_006073.4(TRDN):c.1165G>T (p.Val389Leu)
|
rs768208179
|
0.00001
|
NM_006073.4(TRDN):c.1219+8T>A
|
rs749762696
|
0.00001
|
NM_006073.4(TRDN):c.1220-19T>G
|
rs1278216509
|
0.00001
|
NM_006073.4(TRDN):c.1222A>G (p.Lys408Glu)
|
rs771278361
|
0.00001
|
NM_006073.4(TRDN):c.1249C>G (p.Pro417Ala)
|
rs773700571
|
0.00001
|
NM_006073.4(TRDN):c.1273+4T>C
|
rs1261345499
|
0.00001
|
NM_006073.4(TRDN):c.1274-6T>A
|
rs1034356533
|
0.00001
|
NM_006073.4(TRDN):c.1283G>A (p.Arg428Gln)
|
rs371336992
|
0.00001
|
NM_006073.4(TRDN):c.1286C>A (p.Ala429Asp)
|
rs1297242196
|
0.00001
|
NM_006073.4(TRDN):c.128C>T (p.Thr43Met)
|
rs748832633
|
0.00001
|
NM_006073.4(TRDN):c.1305G>A (p.Ala435=)
|
rs1170118704
|
0.00001
|
NM_006073.4(TRDN):c.1321+1G>A
|
rs775407481
|
0.00001
|
NM_006073.4(TRDN):c.1321+2T>C
|
rs772232730
|
0.00001
|
NM_006073.4(TRDN):c.134G>T (p.Ser45Ile)
|
rs748395950
|
0.00001
|
NM_006073.4(TRDN):c.1383A>G (p.Glu461=)
|
rs1279027887
|
0.00001
|
NM_006073.4(TRDN):c.1393A>G (p.Lys465Glu)
|
rs1779922492
|
0.00001
|
NM_006073.4(TRDN):c.1395G>C (p.Lys465Asn)
|
rs1323480717
|
0.00001
|
NM_006073.4(TRDN):c.1420+2T>C
|
rs1197905831
|
0.00001
|
NM_006073.4(TRDN):c.1421-15G>A
|
rs561559208
|
0.00001
|
NM_006073.4(TRDN):c.1471+11A>G
|
rs1562265333
|
0.00001
|
NM_006073.4(TRDN):c.1471+7T>G
|
rs766394390
|
0.00001
|
NM_006073.4(TRDN):c.1487A>T (p.Lys496Ile)
|
rs1219920478
|
0.00001
|
NM_006073.4(TRDN):c.1501T>A (p.Ser501Thr)
|
rs370559465
|
0.00001
|
NM_006073.4(TRDN):c.1510+10T>C
|
rs762076675
|
0.00001
|
NM_006073.4(TRDN):c.1533T>C (p.Pro511=)
|
rs1216108172
|
0.00001
|
NM_006073.4(TRDN):c.1537+5G>A
|
rs1418472166
|
0.00001
|
NM_006073.4(TRDN):c.1537C>A (p.Gln513Lys)
|
rs757355311
|
0.00001
|
NM_006073.4(TRDN):c.1563G>A (p.Lys521=)
|
rs573190326
|
0.00001
|
NM_006073.4(TRDN):c.1567+18A>G
|
rs1323353333
|
0.00001
|
NM_006073.4(TRDN):c.1567+2T>C
|
rs1384476992
|
0.00001
|
NM_006073.4(TRDN):c.1569G>T (p.Glu523Asp)
|
rs1395279008
|
0.00001
|
NM_006073.4(TRDN):c.1593A>G (p.Lys531=)
|
rs769926882
|
0.00001
|
NM_006073.4(TRDN):c.1597+10G>T
|
rs150165710
|
0.00001
|
NM_006073.4(TRDN):c.1597+20A>G
|
rs1334825625
|
0.00001
|
NM_006073.4(TRDN):c.1614G>A (p.Val538=)
|
rs566498843
|
0.00001
|
NM_006073.4(TRDN):c.1622A>G (p.His541Arg)
|
rs919195476
|
0.00001
|
NM_006073.4(TRDN):c.1624+3A>G
|
rs917121544
|
0.00001
|
NM_006073.4(TRDN):c.1625-8A>G
|
rs776538507
|
0.00001
|
NM_006073.4(TRDN):c.1631A>T (p.Asp544Val)
|
rs1417883411
|
0.00001
|
NM_006073.4(TRDN):c.1660C>G (p.His554Asp)
|
rs749072053
|
0.00001
|
NM_006073.4(TRDN):c.1673-3C>G
|
rs762200112
|
0.00001
|
NM_006073.4(TRDN):c.1682T>A (p.Val561Asp)
|
rs947096255
|
0.00001
|
NM_006073.4(TRDN):c.1690C>G (p.Gln564Glu)
|
rs892905883
|
0.00001
|
NM_006073.4(TRDN):c.1695A>G (p.Val565=)
|
rs1480745340
|
0.00001
|
NM_006073.4(TRDN):c.1738+8A>G
|
rs368262681
|
0.00001
|
NM_006073.4(TRDN):c.1765C>A (p.Pro589Thr)
|
rs374035597
|
0.00001
|
NM_006073.4(TRDN):c.1766C>A (p.Pro589His)
|
rs371717903
|
0.00001
|
NM_006073.4(TRDN):c.176C>T (p.Thr59Met)
|
rs397515459
|
0.00001
|
NM_006073.4(TRDN):c.17C>T (p.Ala6Val)
|
rs764897557
|
0.00001
|
NM_006073.4(TRDN):c.1805-2A>G
|
rs1417676099
|
0.00001
|
NM_006073.4(TRDN):c.1819G>C (p.Val607Leu)
|
rs775485689
|
0.00001
|
NM_006073.4(TRDN):c.1853C>T (p.Ser618Phe)
|
rs1270608603
|
0.00001
|
NM_006073.4(TRDN):c.1870+5A>T
|
rs1041234944
|
0.00001
|
NM_006073.4(TRDN):c.1879G>C (p.Asp627His)
|
rs997711349
|
0.00001
|
NM_006073.4(TRDN):c.1904A>G (p.Lys635Arg)
|
rs1179112140
|
0.00001
|
NM_006073.4(TRDN):c.1952-5T>C
|
rs780537847
|
0.00001
|
NM_006073.4(TRDN):c.1952-6T>A
|
rs1452400104
|
0.00001
|
NM_006073.4(TRDN):c.1954G>A (p.Glu652Lys)
|
rs1194412303
|
0.00001
|
NM_006073.4(TRDN):c.1962T>G (p.Pro654=)
|
rs1021493361
|
0.00001
|
NM_006073.4(TRDN):c.1976-3T>C
|
rs934486291
|
0.00001
|
NM_006073.4(TRDN):c.2007A>G (p.Lys669=)
|
rs758215926
|
0.00001
|
NM_006073.4(TRDN):c.2015-9A>G
|
rs774914841
|
0.00001
|
NM_006073.4(TRDN):c.2027A>G (p.Asp676Gly)
|
rs1775147117
|
0.00001
|
NM_006073.4(TRDN):c.2050+9A>G
|
rs778722280
|
0.00001
|
NM_006073.4(TRDN):c.2060G>A (p.Ser687Asn)
|
rs1188001301
|
0.00001
|
NM_006073.4(TRDN):c.2074G>A (p.Val692Ile)
|
rs1208049678
|
0.00001
|
NM_006073.4(TRDN):c.2087G>A (p.Gly696Glu)
|
rs770748006
|
0.00001
|
NM_006073.4(TRDN):c.2091C>T (p.Tyr697=)
|
rs749118163
|
0.00001
|
NM_006073.4(TRDN):c.2092A>C (p.Asn698His)
|
rs777779916
|
0.00001
|
NM_006073.4(TRDN):c.2122C>T (p.Pro708Ser)
|
rs751278695
|
0.00001
|
NM_006073.4(TRDN):c.2176C>T (p.Gln726Ter)
|
rs1414689230
|
0.00001
|
NM_006073.4(TRDN):c.22+18C>T
|
rs549609889
|
0.00001
|
NM_006073.4(TRDN):c.22+4T>C
|
rs757565507
|
0.00001
|
NM_006073.4(TRDN):c.232+6T>G
|
rs747825904
|
0.00001
|
NM_006073.4(TRDN):c.232+8C>A
|
rs371069080
|
0.00001
|
NM_006073.4(TRDN):c.310T>A (p.Tyr104Asn)
|
rs566714157
|
0.00001
|
NM_006073.4(TRDN):c.311A>G (p.Tyr104Cys)
|
rs1345111830
|
0.00001
|
NM_006073.4(TRDN):c.335A>T (p.Asp112Val)
|
rs772376488
|
0.00001
|
NM_006073.4(TRDN):c.360A>T (p.Glu120Asp)
|
rs1433101332
|
0.00001
|
NM_006073.4(TRDN):c.371G>A (p.Gly124Asp)
|
rs1781225730
|
0.00001
|
NM_006073.4(TRDN):c.398T>C (p.Ile133Thr)
|
rs1218113277
|
0.00001
|
NM_006073.4(TRDN):c.463G>A (p.Glu155Lys)
|
rs1386718060
|
0.00001
|
NM_006073.4(TRDN):c.480T>G (p.Thr160=)
|
rs1020844292
|
0.00001
|
NM_006073.4(TRDN):c.482A>C (p.Lys161Thr)
|
rs886039003
|
0.00001
|
NM_006073.4(TRDN):c.485-13T>C
|
rs886061034
|
0.00001
|
NM_006073.4(TRDN):c.502G>A (p.Glu168Lys)
|
rs545032318
|
0.00001
|
NM_006073.4(TRDN):c.527A>T (p.Glu176Val)
|
rs1174526334
|
0.00001
|
NM_006073.4(TRDN):c.529A>T (p.Lys177Ter)
|
rs1468290898
|
0.00001
|
NM_006073.4(TRDN):c.541G>T (p.Glu181Ter)
|
rs1198103383
|
0.00001
|
NM_006073.4(TRDN):c.558C>A (p.His186Gln)
|
rs1173699706
|
0.00001
|
NM_006073.4(TRDN):c.576A>G (p.Lys192=)
|
rs756125825
|
0.00001
|
NM_006073.4(TRDN):c.604G>A (p.Ala202Thr)
|
rs1335196025
|
0.00001
|
NM_006073.4(TRDN):c.606G>A (p.Ala202=)
|
rs1410476969
|
0.00001
|
NM_006073.4(TRDN):c.610+19A>G
|
rs1482036297
|
0.00001
|
NM_006073.4(TRDN):c.630T>A (p.Thr210=)
|
rs983727872
|
0.00001
|
NM_006073.4(TRDN):c.652A>C (p.Thr218Pro)
|
rs1778805040
|
0.00001
|
NM_006073.4(TRDN):c.665T>G (p.Val222Gly)
|
rs758037868
|
0.00001
|
NM_006073.4(TRDN):c.754G>T (p.Asp252Tyr)
|
rs749401047
|
0.00001
|
NM_006073.4(TRDN):c.755A>G (p.Asp252Gly)
|
rs969285752
|
0.00001
|
NM_006073.4(TRDN):c.762G>C (p.Glu254Asp)
|
rs746983339
|
0.00001
|
NM_006073.4(TRDN):c.804A>G (p.Ala268=)
|
rs748948862
|
0.00001
|
NM_006073.4(TRDN):c.811C>T (p.Arg271Ter)
|
rs1201954479
|
0.00001
|
NM_006073.4(TRDN):c.812G>A (p.Arg271Gln)
|
rs772783444
|
0.00001
|
NM_006073.4(TRDN):c.826A>G (p.Ile276Val)
|
rs150412658
|
0.00001
|
NM_006073.4(TRDN):c.851C>G (p.Pro284Arg)
|
rs755534468
|
0.00001
|
NM_006073.4(TRDN):c.853+3A>G
|
rs372783263
|
0.00001
|
NM_006073.4(TRDN):c.853+6C>A
|
rs1331217957
|
0.00001
|
NM_006073.4(TRDN):c.854-7T>C
|
rs762404582
|
0.00001
|
NM_006073.4(TRDN):c.885G>A (p.Pro295=)
|
rs769189541
|
0.00001
|
NM_006073.4(TRDN):c.894A>G (p.Gln298=)
|
rs1489564658
|
0.00001
|
NM_006073.4(TRDN):c.902G>A (p.Arg301Lys)
|
rs780453421
|
0.00001
|
NM_006073.4(TRDN):c.911C>T (p.Pro304Leu)
|
rs750105528
|
0.00001
|
NM_006073.4(TRDN):c.931+14T>C
|
rs1776694685
|
0.00001
|
NM_006073.4(TRDN):c.931+6T>C
|
rs913713029
|
0.00001
|
NM_006073.4(TRDN):c.947A>G (p.Lys316Arg)
|
rs1200632068
|
0.00001
|
NM_006073.4(TRDN):c.949A>G (p.Lys317Glu)
|
rs138624936
|
0.00001
|
NM_006073.4(TRDN):c.990A>G (p.Lys330=)
|
rs941068115
|
0.00001
|
NM_006073.4(TRDN):c.991+10T>G
|
rs1451400888
|
0.00001
|
NM_006073.4(TRDN):c.991+11T>G
|
rs1245038855
|
0.00001
|
NM_006073.4(TRDN):c.991+3A>G
|
rs961504074
|
0.00001
|
NM_006888.6(CALM1):c.183T>C (p.Asn61=)
|
rs751759267
|
0.00001
|
NM_006888.6(CALM1):c.201C>T (p.Pro67=)
|
rs762047997
|
0.00001
|
NM_006888.6(CALM1):c.273A>G (p.Arg91=)
|
rs1211887414
|
0.00001
|
NM_006888.6(CALM1):c.4-9T>A
|
rs1213908678
|
0.00001
|
NM_006888.6(CALM1):c.417T>C (p.Tyr139=)
|
rs377521523
|
0.00001
|
NM_006888.6(CALM1):c.421+8_421+9del
|
rs767443947
|
0.00001
|
NM_006888.6(CALM1):c.422-16dup
|
rs776212211
|
0.00001
|
NM_006888.6(CALM1):c.422-20T>C
|
rs1232803707
|
0.00001
|
NM_006888.6(CALM1):c.426C>T (p.Phe142=)
|
rs199744595
|
0.00001
|
NC_000001.10:g.(?_116243862)_(116244067_?)del
|
|
|
NC_000001.10:g.(?_116243862)_(116287553_?)dup
|
|
|
NC_000001.10:g.(?_116243862)_(116311162_?)dup
|
|
|
NC_000001.10:g.(?_116260441)_(116311162_?)dup
|
|
|
NC_000001.10:g.(?_116269603)_(116269753_?)del
|
|
|
NC_000001.10:g.(?_116275502)_(116280976_?)dup
|
|
|
NC_000001.10:g.(?_116287429)_(116287553_?)del
|
|
|
NC_000001.10:g.(?_116310909)_(116947066_?)dup
|
|
|
NC_000001.10:g.(?_236849954)_(237551503_?)dup
|
|
|
NC_000001.10:g.(?_236849974)_(237205889_?)dup
|
|
|
NC_000001.10:g.(?_236902582)_(237205889_?)dup
|
|
|
NC_000001.10:g.(?_236902582)_(237944966_?)del
|
|
|
NC_000001.10:g.(?_236902582)_(237995947_?)del
|
|
|
NC_000001.10:g.(?_236902582)_(237995947_?)dup
|
|
|
NC_000001.10:g.(?_237205702)_(237519285_?)dup
|
|
|
NC_000001.10:g.(?_237205802)_(237519305_?)dup
|
|
|
NC_000001.10:g.(?_237205812)_(237205879_?)del
|
|
|
NC_000001.10:g.(?_237205812)_(237205879_?)dup
|
|
|
NC_000001.10:g.(?_237205822)_(237205889_?)dup
|
|
|
NC_000001.10:g.(?_237205822)_(237519305_?)dup
|
|
|
NC_000001.10:g.(?_237433777)_(237433936_?)dup
|
|
|
NC_000001.10:g.(?_237433777)_(237527692_?)dup
|
|
|
NC_000001.10:g.(?_237433777)_(237532928_?)del
|
|
|
NC_000001.10:g.(?_237433777)_(237540755_?)dup
|
|
|
NC_000001.10:g.(?_237433777)_(237632507_?)del
|
|
|
NC_000001.10:g.(?_237433791)_(237519291_?)dup
|
|
|
NC_000001.10:g.(?_237433797)_(237519285_?)dup
|
|
|
NC_000001.10:g.(?_237494158)_(237494302_?)del
|
|
|
NC_000001.10:g.(?_237494158)_(237670134_?)del
|
|
|
NC_000001.10:g.(?_237519245)_(237519305_?)del
|
|
|
NC_000001.10:g.(?_237519245)_(237586568_?)dup
|
|
|
NC_000001.10:g.(?_237519255)_(237519295_?)del
|
|
|
NC_000001.10:g.(?_237519255)_(237758967_?)del
|
|
|
NC_000001.10:g.(?_237538007)_(237714001_?)dup
|
|
|
NC_000001.10:g.(?_237580329)_(237965236_?)dup
|
|
|
NC_000001.10:g.(?_237580329)_(237995947_?)dup
|
|
|
NC_000001.10:g.(?_237580339)_(237995957_?)dup
|
|
|
NC_000001.10:g.(?_237586372)_(237732639_?)del
|
|
|
NC_000001.10:g.(?_237655086)_(237995947_?)dup
|
|
|
NC_000001.10:g.(?_237655086)_(237995967_?)dup
|
|
|
NC_000001.10:g.(?_237659791)_(237794861_?)dup
|
|
|
NC_000001.10:g.(?_237674968)_(237675111_?)del
|
|
|
NC_000001.10:g.(?_237711711)_(237714011_?)del
|
|
|
NC_000001.10:g.(?_237711721)_(237982502_?)dup
|
|
|
NC_000001.10:g.(?_237753073)_(237924348_?)del
|
|
|
NC_000001.10:g.(?_237765305)_(237995947_?)dup
|
|
|
NC_000001.10:g.(?_237796858)_(237995947_?)dup
|
|
|
NC_000001.10:g.(?_237823265)_(237965236_?)dup
|
|
|
NC_000001.10:g.(?_237837376)_(237995947_?)dup
|
|
|
NC_000001.10:g.(?_237862245)_(237881841_?)del
|
|
|
NC_000001.10:g.(?_237889553)_(237995947_?)dup
|
|
|
NC_000001.10:g.(?_237893540)_(237995947_?)dup
|
|
|
NC_000001.10:g.(?_237893550)_(237995957_?)dup
|
|
|
NC_000001.10:g.(?_237905576)_(237958651_?)dup
|
|
|
NC_000001.10:g.(?_237919568)_(237921096_?)del
|
|
|
NC_000001.10:g.(?_237923056)_(237995947_?)del
|
|
|
NC_000001.10:g.(?_237941946)_(237995947_?)del
|
|
|
NC_000001.10:g.(?_237941946)_(237995967_?)del
|
|
|
NC_000001.10:g.(?_237965136)_(237995947_?)dup
|
|
|
NC_000001.10:g.(?_237982316)_(237982512_?)del
|
|
|
NC_000001.10:g.(?_237982316)_(237982512_?)dup
|
|
|
NC_000001.11:g.(?_115701231)_(115744922_?)dup
|
|
|
NC_000001.11:g.(?_237042512)_(237355995_?)dup
|
|
|
NC_000001.11:g.(?_237270487)_(237377445_?)dup
|
|
|
NC_000001.11:g.(?_237270487)_(237832657_?)del
|
|
|
NC_000001.11:g.(?_237270487)_(237832657_?)dup
|
|
|
NC_000001.11:g.(?_237330868)_(237330992_?)del
|
|
|
NC_000001.11:g.(?_237417039)_(237801926_?)dup
|
|
|
NC_000001.11:g.(?_237441309)_(237454584_?)del
|
|
|
NC_000001.11:g.(?_237441309)_(237456745_?)del
|
|
|
NC_000001.11:g.(?_237666502)_(237794007_?)del
|
|
|
NC_000001.11:g.(?_237756278)_(237832657_?)del
|
|
|
NC_000001.11:g.(?_237770797)_(237773658_?)del
|
|
|
NC_000001.11:g.237610838A>G
|
rs727504133
|
|
NC_000001.11:g.237660927C>A
|
rs727504134
|
|
NC_000006.11:g.(?_123536484)_(123959238_?)dup
|
|
|
NC_000006.11:g.(?_123539726)_(123825066_?)dup
|
|
|
NC_000006.11:g.(?_123539726)_(123957940_?)dup
|
|
|
NC_000006.11:g.(?_123539737)_(123957930_?)dup
|
|
|
NC_000006.11:g.(?_123539746)_(123833527_?)del
|
|
|
NC_000006.11:g.(?_123539746)_(123957920_?)del
|
|
|
NC_000006.11:g.(?_123539746)_(123957920_?)dup
|
|
|
NC_000006.11:g.(?_123573537)_(123573600_?)del
|
|
|
NC_000006.11:g.(?_123573537)_(123595835_?)del
|
|
|
NC_000006.11:g.(?_123580749)_(123595835_?)dup
|
|
|
NC_000006.11:g.(?_123581598)_(123581802_?)del
|
|
|
NC_000006.11:g.(?_123581737)_(123581803_?)del
|
|
|
NC_000006.11:g.(?_123581747)_(123581793_?)del
|
|
|
NC_000006.11:g.(?_123586443)_(123588916_?)dup
|
|
|
NC_000006.11:g.(?_123637582)_(123673751_?)dup
|
|
|
NC_000006.11:g.(?_123637592)_(123637650_?)del
|
|
|
NC_000006.11:g.(?_123653004)_(123658834_?)del
|
|
|
NC_000006.11:g.(?_123658744)_(123760168_?)dup
|
|
|
NC_000006.11:g.(?_123687260)_(123687347_?)del
|
|
|
NC_000006.11:g.(?_123703243)_(123703312_?)del
|
|
|
NC_000006.11:g.(?_123714759)_(123786138_?)dup
|
|
|
NC_000006.11:g.(?_123759188)_(123760168_?)del
|
|
|
NC_000006.11:g.(?_123759188)_(123957920_?)del
|
|
|
NC_000006.11:g.(?_123786031)_(123786148_?)del
|
|
|
NC_000006.11:g.(?_123786031)_(123786148_?)dup
|
|
|
NC_000006.11:g.(?_123818318)_(123825066_?)del
|
|
|
NC_000006.11:g.(?_123818328)_(123825056_?)del
|
|
|
NC_000006.11:g.(?_123833428)_(123837371_?)del
|
|
|
NC_000006.11:g.(?_123836792)_(123837316_?)del
|
|
|
NC_000006.11:g.(?_123851631)_(123851730_?)del
|
|
|
NC_000006.11:g.(?_123851631)_(123868537_?)del
|
|
|
NC_000006.11:g.(?_123851641)_(123851720_?)del
|
|
|
NC_000006.11:g.(?_123892048)_(123957920_?)del
|
|
|
NC_000006.11:g.(?_123957879)_(123957920_?)del
|
|
|
NC_000006.12:g.(?_123218591)_(123224141_?)del
|
|
|
NC_000006.12:g.(?_123260612)_(123260638_?)del
|
|
|
NC_000006.12:g.(?_123337609)_(123439013_?)dup
|
|
|
NC_000006.12:g.(?_123438043)_(123465003_?)del
|
|
|
NC_000006.12:g.(?_123497183)_(123512372_?)dup
|
|
|
NC_000006.12:g.(?_123547330)_(123548622_?)del
|
|
|
NC_000006.12:g.123503896TCTGT[1]
|
|
|
NC_000014.8:g.(?_90863575)_(90871061_?)del
|
|
|
NC_000014.8:g.(?_90863575)_(90871061_?)dup
|
|
|
NC_000014.8:g.(?_90870713)_(90871071_?)dup
|
|
|
NC_000014.9:g.90397013C>T
|
rs12885713
|
|
NM_001035.2(RYR2):c.(?_169)_(273_?)del (p.(?))
|
|
|
NM_001035.3(RYR2):c.*1_*5dup (p.Ter4968=)
|
rs1252973606
|
|
NM_001035.3(RYR2):c.10017C>A (p.His3339Gln)
|
|
|
NM_001035.3(RYR2):c.10020G>T (p.Leu3340=)
|
rs2149066994
|
|
NM_001035.3(RYR2):c.10024G>C (p.Ala3342Pro)
|
rs779445295
|
|
NM_001035.3(RYR2):c.10026T>C (p.Ala3342=)
|
rs2149067032
|
|
NM_001035.3(RYR2):c.10031_10034del (p.Ala3344fs)
|
|
|
NM_001035.3(RYR2):c.10032C>G (p.Ala3344=)
|
rs2149067070
|
|
NM_001035.3(RYR2):c.10035G>C (p.Arg3345Ser)
|
rs754976419
|
|
NM_001035.3(RYR2):c.10035G>T (p.Arg3345Ser)
|
rs754976419
|
|
NM_001035.3(RYR2):c.10038G>A (p.Gly3346=)
|
|
|
NM_001035.3(RYR2):c.10038G>T (p.Gly3346=)
|
|
|
NM_001035.3(RYR2):c.10039dup (p.Asp3347fs)
|
|
|
NM_001035.3(RYR2):c.10041C>T (p.Asp3347=)
|
|
|
NM_001035.3(RYR2):c.10042A>G (p.Met3348Val)
|
rs2149067182
|
|
NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu)
|
rs786205455
|
|
NM_001035.3(RYR2):c.1005+19T>G
|
|
|
NM_001035.3(RYR2):c.1005+1G>A
|
rs1705774837
|
|
NM_001035.3(RYR2):c.1005+20G>C
|
|
|
NM_001035.3(RYR2):c.1005+3G>A
|
rs1705775231
|
|
NM_001035.3(RYR2):c.1005+7C>G
|
rs774100182
|
|
NM_001035.3(RYR2):c.1005+9G>A
|
rs1052046365
|
|
NM_001035.3(RYR2):c.10051G>A (p.Ala3351Thr)
|
rs1057524349
|
|
NM_001035.3(RYR2):c.10051G>T (p.Ala3351Ser)
|
rs1057524349
|
|
NM_001035.3(RYR2):c.10057C>T (p.Leu3353Phe)
|
|
|
NM_001035.3(RYR2):c.10059C>T (p.Leu3353=)
|
rs370015676
|
|
NM_001035.3(RYR2):c.1005G>T (p.Lys335Asn)
|
rs2150058766
|
|
NM_001035.3(RYR2):c.1006-15C>T
|
|
|
NM_001035.3(RYR2):c.1006-15del
|
|
|
NM_001035.3(RYR2):c.1006-20T>A
|
rs2150146334
|
|
NM_001035.3(RYR2):c.1006-8C>A
|
|
|
NM_001035.3(RYR2):c.1006-8C>T
|
rs1425668743
|
|
NM_001035.3(RYR2):c.10062C>T (p.Leu3354=)
|
rs931521804
|
|
NM_001035.3(RYR2):c.10067T>A (p.Leu3356Gln)
|
|
|
NM_001035.3(RYR2):c.10071T>C (p.Asp3357=)
|
rs2149067326
|
|
NM_001035.3(RYR2):c.10076T>C (p.Phe3359Ser)
|
|
|
NM_001035.3(RYR2):c.10078A>G (p.Thr3360Ala)
|
|
|
NM_001035.3(RYR2):c.10084C>G (p.Leu3362Val)
|
|
|
NM_001035.3(RYR2):c.1008A>G (p.Glu336=)
|
|
|
NM_001035.3(RYR2):c.10090A>G (p.Arg3364Gly)
|
|
|
NM_001035.3(RYR2):c.10093G>A (p.Asp3365Asn)
|
rs1688609248
|
|
NM_001035.3(RYR2):c.10098C>G (p.Leu3366=)
|
|
|
NM_001035.3(RYR2):c.10098C>T (p.Leu3366=)
|
|
|
NM_001035.3(RYR2):c.100A>G (p.Lys34Glu)
|
rs876661385
|
|
NM_001035.3(RYR2):c.10105T>C (p.Phe3369Leu)
|
|
|
NM_001035.3(RYR2):c.10121T>C (p.Ile3374Thr)
|
|
|
NM_001035.3(RYR2):c.10127T>A (p.Phe3376Tyr)
|
rs876657983
|
|
NM_001035.3(RYR2):c.1012T>A (p.Leu338Met)
|
|
|
NM_001035.3(RYR2):c.10137T>C (p.Tyr3379=)
|
|
|
NM_001035.3(RYR2):c.10140C>G (p.Asn3380Lys)
|
|
|
NM_001035.3(RYR2):c.10142+14T>C
|
|
|
NM_001035.3(RYR2):c.10142+15A>C
|
|
|
NM_001035.3(RYR2):c.10142+15A>G
|
|
|
NM_001035.3(RYR2):c.10142+8C>G
|
|
|
NM_001035.3(RYR2):c.10142+8C>T
|
|
|
NM_001035.3(RYR2):c.10142G>A (p.Arg3381Lys)
|
rs1060500154
|
|
NM_001035.3(RYR2):c.10143-11A>T
|
rs1057523491
|
|
NM_001035.3(RYR2):c.10143-15_10143-12del
|
rs2149069509
|
|
NM_001035.3(RYR2):c.10145C>G (p.Ala3382Gly)
|
rs1688652177
|
|
NM_001035.3(RYR2):c.10146A>C (p.Ala3382=)
|
rs773965844
|
|
NM_001035.3(RYR2):c.10146A>T (p.Ala3382=)
|
|
|
NM_001035.3(RYR2):c.10165A>C (p.Asn3389His)
|
|
|
NM_001035.3(RYR2):c.10171G>A (p.Glu3391Lys)
|
|
|
NM_001035.3(RYR2):c.10174G>T (p.Ala3392Ser)
|
rs1325112585
|
|
NM_001035.3(RYR2):c.10177G>A (p.Glu3393Lys)
|
|
|
NM_001035.3(RYR2):c.1017T>G (p.Asp339Glu)
|
|
|
NM_001035.3(RYR2):c.10189C>G (p.Arg3397Gly)
|
|
|
NM_001035.3(RYR2):c.10190G>A (p.Arg3397His)
|
rs753630324
|
|
NM_001035.3(RYR2):c.10190G>T (p.Arg3397Leu)
|
rs753630324
|
|
NM_001035.3(RYR2):c.10198G>T (p.Ala3400Ser)
|
|
|
NM_001035.3(RYR2):c.10205T>C (p.Val3402Ala)
|
rs1553294519
|
|
NM_001035.3(RYR2):c.10212C>G (p.Ile3404Met)
|
|
|
NM_001035.3(RYR2):c.10212C>T (p.Ile3404=)
|
rs2149069969
|
|
NM_001035.3(RYR2):c.10213T>C (p.Tyr3405His)
|
|
|
NM_001035.3(RYR2):c.10224G>A (p.Lys3408=)
|
|
|
NM_001035.3(RYR2):c.10230+16T>C
|
|
|
NM_001035.3(RYR2):c.10230+9_10230+15del
|
rs1573617993
|
|
NM_001035.3(RYR2):c.10231-11C>T
|
rs1688861182
|
|
NM_001035.3(RYR2):c.10231-17C>A
|
|
|
NM_001035.3(RYR2):c.1023G>A (p.Gly341=)
|
|
|
NM_001035.3(RYR2):c.10242AGA[1] (p.Glu3416del)
|
|
|
NM_001035.3(RYR2):c.10248G>A (p.Glu3416=)
|
|
|
NM_001035.3(RYR2):c.10255T>C (p.Phe3419Leu)
|
rs1405655091
|
|
NM_001035.3(RYR2):c.10287T>C (p.Ser3429=)
|
rs1301505729
|
|
NM_001035.3(RYR2):c.10299T>A (p.Thr3433=)
|
|
|
NM_001035.3(RYR2):c.102G>T (p.Lys34Asn)
|
|
|
NM_001035.3(RYR2):c.10302T>C (p.Asp3434=)
|
rs775183266
|
|
NM_001035.3(RYR2):c.10310C>T (p.Ser3437Leu)
|
|
|
NM_001035.3(RYR2):c.10314G>T (p.Lys3438Asn)
|
rs2149079692
|
|
NM_001035.3(RYR2):c.10315A>G (p.Met3439Val)
|
|
|
NM_001035.3(RYR2):c.10323+13dup
|
rs886046276
|
|
NM_001035.3(RYR2):c.10323+15T>A
|
|
|
NM_001035.3(RYR2):c.10323+20C>T
|
|
|
NM_001035.3(RYR2):c.10323+9A>G
|
|
|
NM_001035.3(RYR2):c.10324-10T>G
|
rs2149100282
|
|
NM_001035.3(RYR2):c.10324-11_10324-10del
|
rs2149100270
|
|
NM_001035.3(RYR2):c.10324-12T>C
|
|
|
NM_001035.3(RYR2):c.10324-13C>T
|
|
|
NM_001035.3(RYR2):c.10324-17T>G
|
|
|
NM_001035.3(RYR2):c.10324-19A>C
|
rs2149100202
|
|
NM_001035.3(RYR2):c.10324-7T>C
|
rs2149100302
|
|
NM_001035.3(RYR2):c.10324-9G>A
|
rs1238809463
|
|
NM_001035.3(RYR2):c.10325C>T (p.Ala3442Val)
|
rs727503403
|
|
NM_001035.3(RYR2):c.1032del (p.Glu345fs)
|
rs1707880851
|
|
NM_001035.3(RYR2):c.1033G>C (p.Glu345Gln)
|
|
|
NM_001035.3(RYR2):c.10342G>C (p.Glu3448Gln)
|
rs1553298016
|
|
NM_001035.3(RYR2):c.10344A>G (p.Glu3448=)
|
|
|
NM_001035.3(RYR2):c.10348A>C (p.Lys3450Gln)
|
|
|
NM_001035.3(RYR2):c.10360C>G (p.Arg3454Gly)
|
|
|
NM_001035.3(RYR2):c.10364A>G (p.Lys3455Arg)
|
rs1573649552
|
|
NM_001035.3(RYR2):c.10372C>T (p.Arg3458Trp)
|
|
|
NM_001035.3(RYR2):c.10374G>T (p.Arg3458=)
|
|
|
NM_001035.3(RYR2):c.10376A>G (p.Tyr3459Cys)
|
|
|
NM_001035.3(RYR2):c.1037T>G (p.Val346Gly)
|
|
|
NM_001035.3(RYR2):c.10384C>T (p.Gln3462Ter)
|
|
|
NM_001035.3(RYR2):c.103C>G (p.Leu35Val)
|
rs1689577425
|
|
NM_001035.3(RYR2):c.10405G>C (p.Ala3469Pro)
|
rs759811978
|
|
NM_001035.3(RYR2):c.10407T>G (p.Ala3469=)
|
|
|
NM_001035.3(RYR2):c.10408C>T (p.Leu3470=)
|
|
|
NM_001035.3(RYR2):c.10413G>A (p.Lys3471=)
|
|
|
NM_001035.3(RYR2):c.10414C>T (p.Arg3472Trp)
|
rs1689344988
|
|
NM_001035.3(RYR2):c.10415G>A (p.Arg3472Gln)
|
|
|
NM_001035.3(RYR2):c.10417T>C (p.Leu3473=)
|
rs767626639
|
|
NM_001035.3(RYR2):c.1041T>C (p.Asp347=)
|
rs1572344667
|
|
NM_001035.3(RYR2):c.10425C>G (p.Pro3475=)
|
rs756160043
|
|
NM_001035.3(RYR2):c.10425C>T (p.Pro3475=)
|
|
|
NM_001035.3(RYR2):c.10427T>C (p.Ile3476Thr)
|
rs764621718
|
|
NM_001035.3(RYR2):c.10430G>A (p.Gly3477Glu)
|
rs1468634766
|
|
NM_001035.3(RYR2):c.10433T>C (p.Leu3478Ser)
|
|
|
NM_001035.3(RYR2):c.10434G>A (p.Leu3478=)
|
rs2149100807
|
|
NM_001035.3(RYR2):c.10438A>T (p.Ile3480Phe)
|
|
|
NM_001035.3(RYR2):c.10446C>T (p.Ala3482=)
|
rs746150182
|
|
NM_001035.3(RYR2):c.10465A>G (p.Ile3489Val)
|
|
|
NM_001035.3(RYR2):c.10468G>A (p.Ala3490Thr)
|
|
|
NM_001035.3(RYR2):c.10468G>T (p.Ala3490Ser)
|
rs1321141557
|
|
NM_001035.3(RYR2):c.10478A>G (p.Lys3493Arg)
|
rs2149100952
|
|
NM_001035.3(RYR2):c.10483C>T (p.Arg3495Ter)
|
rs2149100975
|
|
NM_001035.3(RYR2):c.10491C>G (p.Ser3497Arg)
|
|
|
NM_001035.3(RYR2):c.10494+10C>G
|
|
|
NM_001035.3(RYR2):c.10494+1G>T
|
|
|
NM_001035.3(RYR2):c.10494+7_10494+11dup
|
|
|
NM_001035.3(RYR2):c.10494+8_10494+9del
|
rs760691531
|
|
NM_001035.3(RYR2):c.10495-10T>G
|
|
|
NM_001035.3(RYR2):c.10495-12A>G
|
|
|
NM_001035.3(RYR2):c.10495-16AT[2]
|
rs764166022
|
|
NM_001035.3(RYR2):c.10495-9T>C
|
|
|
NM_001035.3(RYR2):c.10501A>G (p.Thr3501Ala)
|
rs1689443133
|
|
NM_001035.3(RYR2):c.10502_10503delinsTT (p.Thr3501Ile)
|
rs1558281668
|
|
NM_001035.3(RYR2):c.10503C>A (p.Thr3501=)
|
rs2797441
|
|
NM_001035.3(RYR2):c.10505A>C (p.Glu3502Ala)
|
|
|
NM_001035.3(RYR2):c.10505A>G (p.Glu3502Gly)
|
|
|
NM_001035.3(RYR2):c.10515A>T (p.Val3505=)
|
|
|
NM_001035.3(RYR2):c.10524A>G (p.Ile3508Met)
|
rs770094996
|
|
NM_001035.3(RYR2):c.10528C>A (p.Arg3510Ser)
|
rs201749277
|
|
NM_001035.3(RYR2):c.10528C>T (p.Arg3510Cys)
|
rs201749277
|
|
NM_001035.3(RYR2):c.10537A>G (p.Ile3513Val)
|
|
|
NM_001035.3(RYR2):c.10545A>G (p.Leu3515=)
|
rs1246758548
|
|
NM_001035.3(RYR2):c.1054T>C (p.Ser352Pro)
|
rs2150146732
|
|
NM_001035.3(RYR2):c.10554+15A>G
|
|
|
NM_001035.3(RYR2):c.10554+6C>A
|
|
|
NM_001035.3(RYR2):c.10554+7C>A
|
rs375143208
|
|
NM_001035.3(RYR2):c.10554+7C>T
|
|
|
NM_001035.3(RYR2):c.10555-16T>C
|
|
|
NM_001035.3(RYR2):c.10555-2A>C
|
|
|
NM_001035.3(RYR2):c.10555-2A>G
|
|
|
NM_001035.3(RYR2):c.10555-3C>T
|
rs1202806553
|
|
NM_001035.3(RYR2):c.10555-5T>G
|
rs2149125350
|
|
NM_001035.3(RYR2):c.10555-7dup
|
rs776795619
|
|
NM_001035.3(RYR2):c.10555-9T>C
|
|
|
NM_001035.3(RYR2):c.10557G>A (p.Leu3519=)
|
rs558910032
|
|
NM_001035.3(RYR2):c.10567G>A (p.Ala3523Thr)
|
|
|
NM_001035.3(RYR2):c.10574G>A (p.Arg3525Lys)
|
rs2149125484
|
|
NM_001035.3(RYR2):c.10586C>T (p.Ala3529Val)
|
|
|
NM_001035.3(RYR2):c.10591T>C (p.Tyr3531His)
|
rs1689893434
|
|
NM_001035.3(RYR2):c.10602A>G (p.Leu3534=)
|
rs397516498
|
|
NM_001035.3(RYR2):c.10611G>A (p.Arg3537=)
|
|
|
NM_001035.3(RYR2):c.10616A>G (p.Asp3539Gly)
|
rs1689895717
|
|
NM_001035.3(RYR2):c.10617T>C (p.Asp3539=)
|
|
|
NM_001035.3(RYR2):c.10620T>C (p.Asp3540=)
|
rs2149125659
|
|
NM_001035.3(RYR2):c.10626A>G (p.Ser3542=)
|
|
|
NM_001035.3(RYR2):c.10631C>G (p.Pro3544Arg)
|
rs752032924
|
|
NM_001035.3(RYR2):c.10631C>T (p.Pro3544Leu)
|
rs752032924
|
|
NM_001035.3(RYR2):c.10632A>G (p.Pro3544=)
|
rs1689897244
|
|
NM_001035.3(RYR2):c.10635G>A (p.Glu3545=)
|
rs1558290780
|
|
NM_001035.3(RYR2):c.10643T>C (p.Val3548Ala)
|
|
|
NM_001035.3(RYR2):c.10648A>G (p.Arg3550Gly)
|
rs1553300589
|
|
NM_001035.3(RYR2):c.10649G>C (p.Arg3550Thr)
|
rs1689899254
|
|
NM_001035.3(RYR2):c.10650A>G (p.Arg3550=)
|
|
|
NM_001035.3(RYR2):c.10651G>A (p.Val3551Ile)
|
|
|
NM_001035.3(RYR2):c.10656G>A (p.Leu3552=)
|
|
|
NM_001035.3(RYR2):c.10659T>C (p.Asp3553=)
|
|
|
NM_001035.3(RYR2):c.10663G>A (p.Ala3555Thr)
|
rs1689900582
|
|
NM_001035.3(RYR2):c.10665A>T (p.Ala3555=)
|
rs764666057
|
|
NM_001035.3(RYR2):c.10669G>C (p.Val3557Leu)
|
rs2149125892
|
|
NM_001035.3(RYR2):c.10671G>A (p.Val3557=)
|
|
|
NM_001035.3(RYR2):c.10672C>A (p.Leu3558Ile)
|
rs1689901276
|
|
NM_001035.3(RYR2):c.10672C>T (p.Leu3558Phe)
|
rs1689901276
|
|
NM_001035.3(RYR2):c.10677T>C (p.Phe3559=)
|
rs2149125932
|
|
NM_001035.3(RYR2):c.10677del (p.His3560fs)
|
|
|
NM_001035.3(RYR2):c.10679A>G (p.His3560Arg)
|
|
|
NM_001035.3(RYR2):c.10680T>C (p.His3560=)
|
rs727503404
|
|
NM_001035.3(RYR2):c.10686A>G (p.Glu3562=)
|
rs1553300632
|
|
NM_001035.3(RYR2):c.10689+12T>C
|
|
|
NM_001035.3(RYR2):c.10689+13G>A
|
|
|
NM_001035.3(RYR2):c.10689+17A>G
|
|
|
NM_001035.3(RYR2):c.10689G>A (p.Gln3563=)
|
|
|
NM_001035.3(RYR2):c.10690-19_10690-17del
|
|
|
NM_001035.3(RYR2):c.10690-4T>A
|
rs1219349222
|
|
NM_001035.3(RYR2):c.10690-6T>C
|
rs1314601816
|
|
NM_001035.3(RYR2):c.10690A>C (p.Lys3564Gln)
|
|
|
NM_001035.3(RYR2):c.10692G>A (p.Lys3564=)
|
|
|
NM_001035.3(RYR2):c.1069G>A (p.Gly357Ser)
|
rs1401116572
|
|
NM_001035.3(RYR2):c.10704G>A (p.Val3568=)
|
rs1000043466
|
|
NM_001035.3(RYR2):c.10707T>C (p.Gly3569=)
|
rs2149138721
|
|
NM_001035.3(RYR2):c.1070G>A (p.Gly357Asp)
|
|
|
NM_001035.3(RYR2):c.10712_10713dup (p.His3572fs)
|
|
|
NM_001035.3(RYR2):c.10715A>G (p.His3572Arg)
|
|
|
NM_001035.3(RYR2):c.10718_10725+5del
|
|
|
NM_001035.3(RYR2):c.1071T>A (p.Gly357=)
|
rs2150146835
|
|
NM_001035.3(RYR2):c.10725+17dup
|
|
|
NM_001035.3(RYR2):c.10725+18T>C
|
|
|
NM_001035.3(RYR2):c.10725+20G>A
|
|
|
NM_001035.3(RYR2):c.10725+2G>A
|
|
|
NM_001035.3(RYR2):c.10725+6T>C
|
rs2149138948
|
|
NM_001035.3(RYR2):c.10725+6T>G
|
|
|
NM_001035.3(RYR2):c.10725+7A>G
|
rs2149138963
|
|
NM_001035.3(RYR2):c.10726-19T>G
|
|
|
NM_001035.3(RYR2):c.10726-7A>G
|
|
|
NM_001035.3(RYR2):c.1073A>G (p.Asp358Gly)
|
rs2150146849
|
|
NM_001035.3(RYR2):c.10741A>G (p.Arg3581Gly)
|
rs1690263854
|
|
NM_001035.3(RYR2):c.10742G>A (p.Arg3581Lys)
|
rs1390354432
|
|
NM_001035.3(RYR2):c.10746T>C (p.Ser3582=)
|
rs767479069
|
|
NM_001035.3(RYR2):c.10749A>G (p.Lys3583=)
|
|
|
NM_001035.3(RYR2):c.10758A>C (p.Val3586=)
|
rs2149142188
|
|
NM_001035.3(RYR2):c.10758A>G (p.Val3586=)
|
rs2149142188
|
|
NM_001035.3(RYR2):c.1075T>C (p.Ser359Pro)
|
|
|
NM_001035.3(RYR2):c.10765A>C (p.Lys3589Gln)
|
|
|
NM_001035.3(RYR2):c.10770A>G (p.Leu3590=)
|
rs903446046
|
|
NM_001035.3(RYR2):c.10773G>A (p.Leu3591=)
|
|
|
NM_001035.3(RYR2):c.10779G>A (p.Lys3593=)
|
|
|
NM_001035.3(RYR2):c.10806C>T (p.Cys3602=)
|
|
|
NM_001035.3(RYR2):c.10810C>T (p.Arg3604Trp)
|
|
|
NM_001035.3(RYR2):c.10811G>A (p.Arg3604Gln)
|
rs56228594
|
|
NM_001035.3(RYR2):c.10817C>T (p.Ala3606Val)
|
|
|
NM_001035.3(RYR2):c.10818C>T (p.Ala3606=)
|
rs1558298221
|
|
NM_001035.3(RYR2):c.10824A>G (p.Leu3608=)
|
rs1223609812
|
|
NM_001035.3(RYR2):c.10825T>C (p.Tyr3609His)
|
|
|
NM_001035.3(RYR2):c.10829A>G (p.Asn3610Ser)
|
|
|
NM_001035.3(RYR2):c.1082G>A (p.Cys361Tyr)
|
rs794728719
|
|
NM_001035.3(RYR2):c.10837A>G (p.Arg3613Gly)
|
rs2149142608
|
|
NM_001035.3(RYR2):c.10838+14T>C
|
|
|
NM_001035.3(RYR2):c.10838+15del
|
|
|
NM_001035.3(RYR2):c.10838+3C>T
|
rs1417807379
|
|
NM_001035.3(RYR2):c.10839-17T>C
|
|
|
NM_001035.3(RYR2):c.10839-7C>G
|
|
|
NM_001035.3(RYR2):c.10839-8C>T
|
rs2149159271
|
|
NM_001035.3(RYR2):c.10841A>T (p.His3614Leu)
|
|
|
NM_001035.3(RYR2):c.10860_10863del (p.Leu3621fs)
|
|
|
NM_001035.3(RYR2):c.10867G>T (p.Gly3623Ter)
|
|
|
NM_001035.3(RYR2):c.10874A>G (p.Glu3625Gly)
|
|
|
NM_001035.3(RYR2):c.10878G>A (p.Lys3626=)
|
|
|
NM_001035.3(RYR2):c.10888G>C (p.Glu3630Gln)
|
rs747565166
|
|
NM_001035.3(RYR2):c.10893A>T (p.Thr3631=)
|
rs1207013704
|
|
NM_001035.3(RYR2):c.10894GAA[1] (p.Glu3633del)
|
rs1690562656
|
|
NM_001035.3(RYR2):c.108C>T (p.Cys36=)
|
rs1322583844
|
|
NM_001035.3(RYR2):c.10904A>G (p.Tyr3635Cys)
|
rs886044331
|
|
NM_001035.3(RYR2):c.10911A>G (p.Glu3637=)
|
|
|
NM_001035.3(RYR2):c.10914T>C (p.Asp3638=)
|
rs1690563932
|
|
NM_001035.3(RYR2):c.10916A>T (p.Lys3639Ile)
|
rs1312457776
|
|
NM_001035.3(RYR2):c.10922T>C (p.Ile3641Thr)
|
rs1060500145
|
|
NM_001035.3(RYR2):c.10923A>T (p.Ile3641=)
|
|
|
NM_001035.3(RYR2):c.10933G>A (p.Ala3645Thr)
|
rs1558304228
|
|
NM_001035.3(RYR2):c.10935+11A>T
|
|
|
NM_001035.3(RYR2):c.10935+16G>T
|
|
|
NM_001035.3(RYR2):c.10935+17_10935+18delinsTT
|
rs1690568496
|
|
NM_001035.3(RYR2):c.10935+20C>A
|
|
|
NM_001035.3(RYR2):c.10935+3A>C
|
|
|
NM_001035.3(RYR2):c.10935+4T>C
|
|
|
NM_001035.3(RYR2):c.10935+6T>C
|
rs773965672
|
|
NM_001035.3(RYR2):c.10935A>G (p.Ala3645=)
|
rs770623086
|
|
NM_001035.3(RYR2):c.10936-15T>A
|
rs372569768
|
|
NM_001035.3(RYR2):c.10936-15T>C
|
|
|
NM_001035.3(RYR2):c.10936-16T>C
|
|
|
NM_001035.3(RYR2):c.10936-19A>G
|
|
|
NM_001035.3(RYR2):c.10936-5dup
|
|
|
NM_001035.3(RYR2):c.10936-8T>C
|
|
|
NM_001035.3(RYR2):c.10939C>A (p.Pro3647Thr)
|
|
|
NM_001035.3(RYR2):c.1093C>G (p.His365Asp)
|
rs2150146977
|
|
NM_001035.3(RYR2):c.10940C>T (p.Pro3647Leu)
|
rs776678165
|
|
NM_001035.3(RYR2):c.10948G>C (p.Glu3650Gln)
|
rs1690737524
|
|
NM_001035.3(RYR2):c.10952C>T (p.Pro3651Leu)
|
|
|
NM_001035.3(RYR2):c.1095T>A (p.His365Gln)
|
rs1707886367
|
|
NM_001035.3(RYR2):c.10960G>C (p.Glu3654Gln)
|
|
|
NM_001035.3(RYR2):c.10963G>A (p.Asp3655Asn)
|
|
|
NM_001035.3(RYR2):c.10963G>C (p.Asp3655His)
|
|
|
NM_001035.3(RYR2):c.10965T>C (p.Asp3655=)
|
rs1573718403
|
|
NM_001035.3(RYR2):c.10969G>A (p.Gly3657Ser)
|
rs1476256919
|
|
NM_001035.3(RYR2):c.10974T>C (p.Thr3658=)
|
rs2149168019
|
|
NM_001035.3(RYR2):c.10977G>A (p.Lys3659=)
|
rs2149168060
|
|
NM_001035.3(RYR2):c.10979G>A (p.Arg3660Lys)
|
|
|
NM_001035.3(RYR2):c.10980A>G (p.Arg3660=)
|
|
|
NM_001035.3(RYR2):c.10984G>C (p.Asp3662His)
|
|
|
NM_001035.3(RYR2):c.10992A>G (p.Leu3664=)
|
rs2149168131
|
|
NM_001035.3(RYR2):c.10994A>G (p.His3665Arg)
|
|
|
NM_001035.3(RYR2):c.11003T>A (p.Ile3668Asn)
|
rs1573718675
|
|
NM_001035.3(RYR2):c.11004C>T (p.Ile3668=)
|
rs1464010382
|
|
NM_001035.3(RYR2):c.11005C>T (p.Leu3669Phe)
|
|
|
NM_001035.3(RYR2):c.11014A>C (p.Ser3672Arg)
|
|
|
NM_001035.3(RYR2):c.11017C>T (p.Arg3673Trp)
|
rs796052205
|
|
NM_001035.3(RYR2):c.1101C>T (p.Asp367=)
|
|
|
NM_001035.3(RYR2):c.11024C>A (p.Ala3675Asp)
|
|
|
NM_001035.3(RYR2):c.11024C>G (p.Ala3675Gly)
|
rs794728770
|
|
NM_001035.3(RYR2):c.11030C>A (p.Thr3677Lys)
|
|
|
NM_001035.3(RYR2):c.11031A>T (p.Thr3677=)
|
|
|
NM_001035.3(RYR2):c.11037A>G (p.Lys3679=)
|
|
|
NM_001035.3(RYR2):c.11039+13G>A
|
|
|
NM_001035.3(RYR2):c.11039+14G>C
|
rs748101859
|
|
NM_001035.3(RYR2):c.11039+17T>C
|
rs2149168464
|
|
NM_001035.3(RYR2):c.11039+4del
|
|
|
NM_001035.3(RYR2):c.11039+6G>A
|
rs779549361
|
|
NM_001035.3(RYR2):c.11039+9G>A
|
|
|
NM_001035.3(RYR2):c.11040-14C>A
|
|
|
NM_001035.3(RYR2):c.11040-19T>C
|
|
|
NM_001035.3(RYR2):c.11040-20T>C
|
|
|
NM_001035.3(RYR2):c.11043A>G (p.Lys3681=)
|
|
|
NM_001035.3(RYR2):c.11068G>C (p.Ala3690Pro)
|
rs751278951
|
|
NM_001035.3(RYR2):c.11069C>T (p.Ala3690Val)
|
|
|
NM_001035.3(RYR2):c.1107C>T (p.Gly369=)
|
rs767221382
|
|
NM_001035.3(RYR2):c.11087C>A (p.Ala3696Glu)
|
rs1269339524
|
|
NM_001035.3(RYR2):c.11089A>G (p.Lys3697Glu)
|
|
|
NM_001035.3(RYR2):c.1108C>T (p.Leu370=)
|
rs534621173
|
|
NM_001035.3(RYR2):c.11091+13C>G
|
|
|
NM_001035.3(RYR2):c.11091+16T>G
|
|
|
NM_001035.3(RYR2):c.11091+16dup
|
|
|
NM_001035.3(RYR2):c.11091+20G>A
|
|
|
NM_001035.3(RYR2):c.11091+5A>G
|
|
|
NM_001035.3(RYR2):c.11092-16T>G
|
|
|
NM_001035.3(RYR2):c.11092-21_11092-5del
|
|
|
NM_001035.3(RYR2):c.11092-5T>C
|
rs1322016202
|
|
NM_001035.3(RYR2):c.11092-8del
|
rs752640368
|
|
NM_001035.3(RYR2):c.11092-8dup
|
|
|
NM_001035.3(RYR2):c.11099A>G (p.His3700Arg)
|
|
|
NM_001035.3(RYR2):c.11116G>T (p.Asp3706Tyr)
|
rs942040362
|
|
NM_001035.3(RYR2):c.11120G>A (p.Gly3707Asp)
|
rs755613281
|
|
NM_001035.3(RYR2):c.11133G>A (p.Val3711=)
|
|
|
NM_001035.3(RYR2):c.11140T>G (p.Phe3714Val)
|
rs794728771
|
|
NM_001035.3(RYR2):c.11145+10A>T
|
|
|
NM_001035.3(RYR2):c.11145+18G>A
|
|
|
NM_001035.3(RYR2):c.11145+5G>A
|
rs1691689283
|
|
NM_001035.3(RYR2):c.11145+8G>A
|
|
|
NM_001035.3(RYR2):c.11145A>C (p.Glu3715Asp)
|
rs2149211578
|
|
NM_001035.3(RYR2):c.11146-15G>T
|
rs1692945934
|
|
NM_001035.3(RYR2):c.11146-17T>C
|
|
|
NM_001035.3(RYR2):c.11146-19G>A
|
|
|
NM_001035.3(RYR2):c.11146-8G>A
|
rs1425021300
|
|
NM_001035.3(RYR2):c.11150A>G (p.Lys3717Arg)
|
rs1060500141
|
|
NM_001035.3(RYR2):c.11152G>T (p.Glu3718Ter)
|
|
|
NM_001035.3(RYR2):c.11164C>T (p.Gln3722Ter)
|
rs2149261821
|
|
NM_001035.3(RYR2):c.11168A>C (p.Lys3723Thr)
|
rs2149261830
|
|
NM_001035.3(RYR2):c.11169G>C (p.Lys3723Asn)
|
rs1692948108
|
|
NM_001035.3(RYR2):c.11171T>G (p.Leu3724Arg)
|
rs1692948283
|
|
NM_001035.3(RYR2):c.11175A>G (p.Leu3725=)
|
rs2149261872
|
|
NM_001035.3(RYR2):c.11176T>C (p.Tyr3726His)
|
rs1692948665
|
|
NM_001035.3(RYR2):c.11181G>A (p.Gln3727=)
|
|
|
NM_001035.3(RYR2):c.11181G>T (p.Gln3727His)
|
rs773884612
|
|
NM_001035.3(RYR2):c.11188C>T (p.Arg3730Ter)
|
rs2149261911
|
|
NM_001035.3(RYR2):c.11189G>A (p.Arg3730Gln)
|
rs1060500157
|
|
NM_001035.3(RYR2):c.11197G>A (p.Asp3733Asn)
|
rs760307737
|
|
NM_001035.3(RYR2):c.1119T>G (p.Thr373=)
|
rs202231354
|
|
NM_001035.3(RYR2):c.1119_1122del (p.Tyr374fs)
|
rs1707888448
|
|
NM_001035.3(RYR2):c.11200C>T (p.Arg3734Cys)
|
rs1060500150
|
|
NM_001035.3(RYR2):c.11202T>A (p.Arg3734=)
|
rs763792914
|
|
NM_001035.3(RYR2):c.11202T>G (p.Arg3734=)
|
rs763792914
|
|
NM_001035.3(RYR2):c.11207C>G (p.Ala3736Gly)
|
|
|
NM_001035.3(RYR2):c.1120T>C (p.Tyr374His)
|
|
|
NM_001035.3(RYR2):c.11217G>A (p.Met3739Ile)
|
rs397516502
|
|
NM_001035.3(RYR2):c.11218G>T (p.Val3740Leu)
|
rs536555602
|
|
NM_001035.3(RYR2):c.11228C>A (p.Thr3743Lys)
|
|
|
NM_001035.3(RYR2):c.1122C>T (p.Tyr374=)
|
rs757201844
|
|
NM_001035.3(RYR2):c.11236G>C (p.Ala3746Pro)
|
rs1692954476
|
|
NM_001035.3(RYR2):c.11237C>A (p.Ala3746Asp)
|
rs1573821711
|
|
NM_001035.3(RYR2):c.11241C>G (p.Ser3747Arg)
|
rs1692954847
|
|
NM_001035.3(RYR2):c.11243A>G (p.Lys3748Arg)
|
|
|
NM_001035.3(RYR2):c.11244A>G (p.Lys3748=)
|
|
|
NM_001035.3(RYR2):c.11245+18C>G
|
|
|
NM_001035.3(RYR2):c.11245+20C>T
|
|
|
NM_001035.3(RYR2):c.11245+7T>G
|
rs548465188
|
|
NM_001035.3(RYR2):c.11245+9C>A
|
rs1692956819
|
|
NM_001035.3(RYR2):c.11246-17T>C
|
rs2149266209
|
|
NM_001035.3(RYR2):c.11246-3T>C
|
|
|
NM_001035.3(RYR2):c.11246-3T>G
|
rs761460667
|
|
NM_001035.3(RYR2):c.11246-5C>A
|
|
|
NM_001035.3(RYR2):c.11246-6T>A
|
rs2149266259
|
|
NM_001035.3(RYR2):c.11246-8T>A
|
|
|
NM_001035.3(RYR2):c.11250A>G (p.Glu3750=)
|
|
|
NM_001035.3(RYR2):c.11260A>G (p.Met3754Val)
|
|
|
NM_001035.3(RYR2):c.11281C>T (p.Leu3761Phe)
|
|
|
NM_001035.3(RYR2):c.11284G>C (p.Gly3762Arg)
|
|
|
NM_001035.3(RYR2):c.11288T>C (p.Ile3763Thr)
|
rs1693078772
|
|
NM_001035.3(RYR2):c.1128T>C (p.Ser376=)
|
rs2150147217
|
|
NM_001035.3(RYR2):c.11293A>G (p.Ile3765Val)
|
rs767346230
|
|
NM_001035.3(RYR2):c.11294T>C (p.Ile3765Thr)
|
|
|
NM_001035.3(RYR2):c.112G>A (p.Ala38Thr)
|
rs747977592
|
|
NM_001035.3(RYR2):c.11301T>A (p.Asn3767Lys)
|
rs1693079970
|
|
NM_001035.3(RYR2):c.11305G>A (p.Gly3769Arg)
|
|
|
NM_001035.3(RYR2):c.11312C>G (p.Ser3771Cys)
|
|
|
NM_001035.3(RYR2):c.11315C>T (p.Thr3772Ile)
|
|
|
NM_001035.3(RYR2):c.1131G>A (p.Val377=)
|
|
|
NM_001035.3(RYR2):c.11321A>G (p.Gln3774Arg)
|
rs2149266454
|
|
NM_001035.3(RYR2):c.11325+7G>A
|
|
|
NM_001035.3(RYR2):c.11325+9T>C
|
|
|
NM_001035.3(RYR2):c.11326-10A>T
|
|
|
NM_001035.3(RYR2):c.11326-17T>G
|
|
|
NM_001035.3(RYR2):c.11326-19G>A
|
|
|
NM_001035.3(RYR2):c.11326A>G (p.Lys3776Glu)
|
rs1558357338
|
|
NM_001035.3(RYR2):c.11329A>G (p.Met3777Val)
|
rs2149272666
|
|
NM_001035.3(RYR2):c.11331G>T (p.Met3777Ile)
|
|
|
NM_001035.3(RYR2):c.11339A>G (p.Tyr3780Cys)
|
|
|
NM_001035.3(RYR2):c.11342T>C (p.Leu3781Pro)
|
|
|
NM_001035.3(RYR2):c.11346G>A (p.Lys3782=)
|
|
|
NM_001035.3(RYR2):c.11355G>A (p.Lys3785=)
|
rs553416597
|
|
NM_001035.3(RYR2):c.11362G>A (p.Gly3788Ser)
|
rs775471018
|
|
NM_001035.3(RYR2):c.11376C>T (p.Ser3792=)
|
|
|
NM_001035.3(RYR2):c.11379G>A (p.Leu3793=)
|
|
|
NM_001035.3(RYR2):c.11380_11388del (p.Ala3794_Leu3796del)
|
rs1693267402
|
|
NM_001035.3(RYR2):c.11397A>G (p.Ser3799=)
|
rs1573837527
|
|
NM_001035.3(RYR2):c.11397A>T (p.Ser3799=)
|
|
|
NM_001035.3(RYR2):c.11398T>A (p.Cys3800Ser)
|
rs397516504
|
|
NM_001035.3(RYR2):c.11398T>C (p.Cys3800Arg)
|
rs397516504
|
|
NM_001035.3(RYR2):c.11399G>T (p.Cys3800Phe)
|
rs1239093704
|
|
NM_001035.3(RYR2):c.1139A>T (p.Lys380Ile)
|
|
|
NM_001035.3(RYR2):c.113C>A (p.Ala38Glu)
|
rs1689579128
|
|
NM_001035.3(RYR2):c.11402+4A>G
|
rs1553313446
|
|
NM_001035.3(RYR2):c.11402+7A>T
|
rs765365656
|
|
NM_001035.3(RYR2):c.11402+7_11402+9del
|
rs794728701
|
|
NM_001035.3(RYR2):c.11403-10G>T
|
rs1226426842
|
|
NM_001035.3(RYR2):c.11403-11T>C
|
rs2149276943
|
|
NM_001035.3(RYR2):c.11403-13C>T
|
|
|
NM_001035.3(RYR2):c.11403-14C>A
|
rs1284487377
|
|
NM_001035.3(RYR2):c.11403-17T>A
|
|
|
NM_001035.3(RYR2):c.11403-4A>G
|
rs1318526635
|
|
NM_001035.3(RYR2):c.11403-4A>T
|
|
|
NM_001035.3(RYR2):c.11403T>C (p.Ser3801=)
|
rs1261086877
|
|
NM_001035.3(RYR2):c.11406C>T (p.Val3802=)
|
|
|
NM_001035.3(RYR2):c.11413C>T (p.Leu3805=)
|
|
|
NM_001035.3(RYR2):c.11417A>C (p.Asn3806Thr)
|
|
|
NM_001035.3(RYR2):c.11420C>T (p.Ala3807Val)
|
|
|
NM_001035.3(RYR2):c.11422T>G (p.Phe3808Val)
|
|
|
NM_001035.3(RYR2):c.11427G>A (p.Glu3809=)
|
rs553350678
|
|
NM_001035.3(RYR2):c.11432A>C (p.Gln3811Pro)
|
rs1553313890
|
|
NM_001035.3(RYR2):c.11433A>C (p.Gln3811His)
|
|
|
NM_001035.3(RYR2):c.11444A>G (p.Glu3815Gly)
|
rs2149277178
|
|
NM_001035.3(RYR2):c.11470G>T (p.Gly3824Ter)
|
rs2149277250
|
|
NM_001035.3(RYR2):c.11476+12_11476+37del
|
|
|
NM_001035.3(RYR2):c.11476+17T>A
|
|
|
NM_001035.3(RYR2):c.11476+9G>A
|
rs1019749781
|
|
NM_001035.3(RYR2):c.11477-8T>C
|
|
|
NM_001035.3(RYR2):c.1147A>G (p.Arg383Gly)
|
rs1707894005
|
|
NM_001035.3(RYR2):c.11503T>G (p.Phe3835Val)
|
|
|
NM_001035.3(RYR2):c.11505C>T (p.Phe3835=)
|
|
|
NM_001035.3(RYR2):c.11508C>T (p.Thr3836=)
|
|
|
NM_001035.3(RYR2):c.11515C>G (p.Leu3839Val)
|
|
|
NM_001035.3(RYR2):c.11516T>A (p.Leu3839His)
|
|
|
NM_001035.3(RYR2):c.11528T>C (p.Leu3843Pro)
|
|
|
NM_001035.3(RYR2):c.11536C>T (p.Leu3846Phe)
|
rs1573882536
|
|
NM_001035.3(RYR2):c.1153G>T (p.Gly385Ter)
|
rs1553453398
|
|
NM_001035.3(RYR2):c.11542G>A (p.Glu3848Lys)
|
rs1060500166
|
|
NM_001035.3(RYR2):c.1154G>A (p.Gly385Glu)
|
|
|
NM_001035.3(RYR2):c.11550C>T (p.His3850=)
|
|
|
NM_001035.3(RYR2):c.11557+11C>T
|
rs1354704411
|
|
NM_001035.3(RYR2):c.11557+14C>G
|
|
|
NM_001035.3(RYR2):c.11557+17A>T
|
|
|
NM_001035.3(RYR2):c.11557+1G>A
|
|
|
NM_001035.3(RYR2):c.11557+3T>C
|
|
|
NM_001035.3(RYR2):c.11558-12dup
|
rs769193958
|
|
NM_001035.3(RYR2):c.11558-17T>G
|
|
|
NM_001035.3(RYR2):c.11558-18T>G
|
|
|
NM_001035.3(RYR2):c.11558-19A>G
|
|
|
NM_001035.3(RYR2):c.11558-19A>T
|
rs2149314406
|
|
NM_001035.3(RYR2):c.11558-21_11558-19del
|
|
|
NM_001035.3(RYR2):c.11558-4A>C
|
|
|
NM_001035.3(RYR2):c.11558-4del
|
rs2149314509
|
|
NM_001035.3(RYR2):c.1156T>C (p.Ser386Pro)
|
|
|
NM_001035.3(RYR2):c.11579C>T (p.Thr3860Ile)
|
rs1694311922
|
|
NM_001035.3(RYR2):c.11583G>T (p.Gln3861His)
|
|
|
NM_001035.3(RYR2):c.11588G>A (p.Gly3863Asp)
|
rs794728775
|
|
NM_001035.3(RYR2):c.11589C>T (p.Gly3863=)
|
|
|
NM_001035.3(RYR2):c.1158T>C (p.Ser386=)
|
|
|
NM_001035.3(RYR2):c.11590A>G (p.Asn3864Asp)
|
rs1573887621
|
|
NM_001035.3(RYR2):c.1159A>G (p.Ile387Val)
|
|
|
NM_001035.3(RYR2):c.11604C>G (p.Val3868=)
|
|
|
NM_001035.3(RYR2):c.11606A>G (p.Asn3869Ser)
|
rs1246024470
|
|
NM_001035.3(RYR2):c.11611A>G (p.Ile3871Val)
|
|
|
NM_001035.3(RYR2):c.11615T>C (p.Ile3872Thr)
|
rs2149314712
|
|
NM_001035.3(RYR2):c.11623G>A (p.Val3875Ile)
|
rs1060500137
|
|
NM_001035.3(RYR2):c.11623G>T (p.Val3875Leu)
|
rs1060500137
|
|
NM_001035.3(RYR2):c.11624T>C (p.Val3875Ala)
|
rs1558381851
|
|
NM_001035.3(RYR2):c.11632C>G (p.Leu3878Val)
|
rs1694316783
|
|
NM_001035.3(RYR2):c.11639G>A (p.Arg3880Lys)
|
rs766515965
|
|
NM_001035.3(RYR2):c.11639G>C (p.Arg3880Thr)
|
rs766515965
|
|
NM_001035.3(RYR2):c.11643T>G (p.Val3881=)
|
rs1558381908
|
|
NM_001035.3(RYR2):c.11646+17A>G
|
|
|
NM_001035.3(RYR2):c.11646+19T>G
|
|
|
NM_001035.3(RYR2):c.11646+1G>T
|
rs2149314836
|
|
NM_001035.3(RYR2):c.11646+3A>G
|
|
|
NM_001035.3(RYR2):c.11646+7T>G
|
rs2149314843
|
|
NM_001035.3(RYR2):c.11646+8G>A
|
|
|
NM_001035.3(RYR2):c.11646+8G>T
|
|
|
NM_001035.3(RYR2):c.11646+9C>A
|
rs2149314865
|
|
NM_001035.3(RYR2):c.11647-15_11647-13del
|
|
|
NM_001035.3(RYR2):c.11647-16C>T
|
|
|
NM_001035.3(RYR2):c.11647-7T>C
|
rs771126125
|
|
NM_001035.3(RYR2):c.11647-9A>G
|
|
|
NM_001035.3(RYR2):c.11655T>C (p.Ile3885=)
|
rs2149319005
|
|
NM_001035.3(RYR2):c.11661C>T (p.Asp3887=)
|
rs759576710
|
|
NM_001035.3(RYR2):c.11667T>C (p.Tyr3889=)
|
|
|
NM_001035.3(RYR2):c.1166G>C (p.Arg389Pro)
|
rs200685968
|
|
NM_001035.3(RYR2):c.11670G>A (p.Trp3890Ter)
|
|
|
NM_001035.3(RYR2):c.11672A>G (p.Tyr3891Cys)
|
|
|
NM_001035.3(RYR2):c.11676C>T (p.Tyr3892=)
|
rs1168445245
|
|
NM_001035.3(RYR2):c.11680G>A (p.Gly3894Arg)
|
|
|
NM_001035.3(RYR2):c.11688T>C (p.Asp3896=)
|
|
|
NM_001035.3(RYR2):c.11689G>C (p.Val3897Leu)
|
|
|
NM_001035.3(RYR2):c.1170+15A>C
|
|
|
NM_001035.3(RYR2):c.1170+16A>G
|
|
|
NM_001035.3(RYR2):c.1170+19A>T
|
rs1707901143
|
|
NM_001035.3(RYR2):c.1170+19dup
|
rs1167148257
|
|
NM_001035.3(RYR2):c.1170+1G>C
|
rs1707898107
|
|
NM_001035.3(RYR2):c.1171-12G>A
|
|
|
NM_001035.3(RYR2):c.1171-14T>C
|
|
|
NM_001035.3(RYR2):c.1171-18A>C
|
|
|
NM_001035.3(RYR2):c.1171-18A>G
|
|
|
NM_001035.3(RYR2):c.1171-18del
|
|
|
NM_001035.3(RYR2):c.1171-19T>C
|
|
|
NM_001035.3(RYR2):c.11710C>T (p.Arg3904Trp)
|
rs998659755
|
|
NM_001035.3(RYR2):c.11711G>A (p.Arg3904Gln)
|
|
|
NM_001035.3(RYR2):c.11725G>A (p.Ala3909Thr)
|
|
|
NM_001035.3(RYR2):c.11729T>A (p.Ile3910Asn)
|
|
|
NM_001035.3(RYR2):c.1172C>A (p.Ala391Asp)
|
rs374306538
|
|
NM_001035.3(RYR2):c.11748C>T (p.Val3916=)
|
|
|
NM_001035.3(RYR2):c.11756C>G (p.Thr3919Ser)
|
rs1694434184
|
|
NM_001035.3(RYR2):c.11757T>C (p.Thr3919=)
|
rs1694434380
|
|
NM_001035.3(RYR2):c.1175T>C (p.Ile392Thr)
|
rs1267247155
|
|
NM_001035.3(RYR2):c.11760T>A (p.Leu3920=)
|
|
|
NM_001035.3(RYR2):c.11760T>C (p.Leu3920=)
|
|
|
NM_001035.3(RYR2):c.11760del (p.Thr3921fs)
|
|
|
NM_001035.3(RYR2):c.11762C>G (p.Thr3921Arg)
|
|
|
NM_001035.3(RYR2):c.11765A>G (p.Glu3922Gly)
|
|
|
NM_001035.3(RYR2):c.11768A>G (p.Tyr3923Cys)
|
|
|
NM_001035.3(RYR2):c.11775+9T>C
|
|
|
NM_001035.3(RYR2):c.11776-13G>T
|
|
|
NM_001035.3(RYR2):c.11776-17G>A
|
|
|
NM_001035.3(RYR2):c.11776-17G>T
|
|
|
NM_001035.3(RYR2):c.11776-18T>A
|
|
|
NM_001035.3(RYR2):c.11776-18T>G
|
rs746044321
|
|
NM_001035.3(RYR2):c.11776-3C>T
|
|
|
NM_001035.3(RYR2):c.11776-7G>A
|
|
|
NM_001035.3(RYR2):c.11776-9A>G
|
|
|
NM_001035.3(RYR2):c.11778T>G (p.Gly3926=)
|
rs2149335282
|
|
NM_001035.3(RYR2):c.11779C>T (p.Pro3927Ser)
|
rs2149335295
|
|
NM_001035.3(RYR2):c.1177A>T (p.Met393Leu)
|
|
|
NM_001035.3(RYR2):c.11784C>T (p.Cys3928=)
|
rs764651068
|
|
NM_001035.3(RYR2):c.11787T>C (p.Thr3929=)
|
|
|
NM_001035.3(RYR2):c.11794C>A (p.Gln3932Lys)
|
rs2149335347
|
|
NM_001035.3(RYR2):c.1179G>A (p.Met393Ile)
|
rs80313920
|
|
NM_001035.3(RYR2):c.11800A>T (p.Ser3934Cys)
|
|
|
NM_001035.3(RYR2):c.11808A>C (p.Ala3936=)
|
|
|
NM_001035.3(RYR2):c.11812A>C (p.Ser3938Arg)
|
rs794728825
|
|
NM_001035.3(RYR2):c.11814C>A (p.Ser3938Arg)
|
rs794728704
|
|
NM_001035.3(RYR2):c.11818C>T (p.Leu3940=)
|
|
|
NM_001035.3(RYR2):c.11827G>A (p.Ala3943Thr)
|
rs762237329
|
|
NM_001035.3(RYR2):c.11828C>T (p.Ala3943Val)
|
|
|
NM_001035.3(RYR2):c.11833G>A (p.Val3945Ile)
|
|
|
NM_001035.3(RYR2):c.11836G>A (p.Gly3946Ser)
|
rs794728777
|
|
NM_001035.3(RYR2):c.11836G>C (p.Gly3946Arg)
|
rs794728777
|
|
NM_001035.3(RYR2):c.11837G>A (p.Gly3946Asp)
|
rs1226397753
|
|
NM_001035.3(RYR2):c.11848G>C (p.Val3950Leu)
|
|
|
NM_001035.3(RYR2):c.11863C>G (p.Gln3955Glu)
|
rs1558393802
|
|
NM_001035.3(RYR2):c.11865G>C (p.Gln3955His)
|
rs1573911593
|
|
NM_001035.3(RYR2):c.11877G>T (p.Ser3959=)
|
rs754610647
|
|
NM_001035.3(RYR2):c.11880+11T>C
|
|
|
NM_001035.3(RYR2):c.11880+14C>G
|
|
|
NM_001035.3(RYR2):c.11880+14C>T
|
rs756052547
|
|
NM_001035.3(RYR2):c.11880+17C>T
|
|
|
NM_001035.3(RYR2):c.11880+3_11880+6del
|
rs1694864201
|
|
NM_001035.3(RYR2):c.11880+4AACT[2]
|
rs773240729
|
|
NM_001035.3(RYR2):c.11880+4AACT[4]
|
rs773240729
|
|
NM_001035.3(RYR2):c.11881-10A>G
|
rs1573922749
|
|
NM_001035.3(RYR2):c.11881-18C>G
|
|
|
NM_001035.3(RYR2):c.11881-19G>T
|
|
|
NM_001035.3(RYR2):c.1188A>G (p.Glu396=)
|
rs2150166045
|
|
NM_001035.3(RYR2):c.11898G>A (p.Glu3966=)
|
|
|
NM_001035.3(RYR2):c.11901A>C (p.Leu3967=)
|
rs2149344840
|
|
NM_001035.3(RYR2):c.11901A>G (p.Leu3967=)
|
|
|
NM_001035.3(RYR2):c.11908G>T (p.Glu3970Ter)
|
rs2149344856
|
|
NM_001035.3(RYR2):c.11911T>C (p.Leu3971=)
|
rs1393069119
|
|
NM_001035.3(RYR2):c.11912_11915del (p.Leu3971fs)
|
|
|
NM_001035.3(RYR2):c.11914A>G (p.Met3972Val)
|
rs1085307997
|
|
NM_001035.3(RYR2):c.11916G>A (p.Met3972Ile)
|
rs1308840171
|
|
NM_001035.3(RYR2):c.11917G>T (p.Asp3973Tyr)
|
|
|
NM_001035.3(RYR2):c.11919T>G (p.Asp3973Glu)
|
rs370103782
|
|
NM_001035.3(RYR2):c.11920C>A (p.Leu3974Met)
|
|
|
NM_001035.3(RYR2):c.11928G>T (p.Lys3976Asn)
|
rs2149344926
|
|
NM_001035.3(RYR2):c.11935G>A (p.Val3979Met)
|
|
|
NM_001035.3(RYR2):c.11937G>A (p.Val3979=)
|
|
|
NM_001035.3(RYR2):c.11939T>A (p.Val3980Asp)
|
rs1573923041
|
|
NM_001035.3(RYR2):c.11940C>T (p.Val3980=)
|
|
|
NM_001035.3(RYR2):c.11946G>T (p.Leu3982Phe)
|
rs2149344987
|
|
NM_001035.3(RYR2):c.1194C>T (p.His398=)
|
rs794728816
|
|
NM_001035.3(RYR2):c.11950T>C (p.Ser3984Pro)
|
rs1695118126
|
|
NM_001035.3(RYR2):c.11954_11957dup (p.Leu3986fs)
|
|
|
NM_001035.3(RYR2):c.11959G>C (p.Glu3987Gln)
|
rs794728778
|
|
NM_001035.3(RYR2):c.1195A>G (p.Met399Val)
|
rs1708243371
|
|
NM_001035.3(RYR2):c.11962+12T>A
|
|
|
NM_001035.3(RYR2):c.11962+12T>G
|
|
|
NM_001035.3(RYR2):c.11962+13del
|
|
|
NM_001035.3(RYR2):c.11962+15T>C
|
|
|
NM_001035.3(RYR2):c.11962+1_11962+4dup
|
rs2149345025
|
|
NM_001035.3(RYR2):c.11962+20T>C
|
|
|
NM_001035.3(RYR2):c.11962+20_11962+21del
|
|
|
NM_001035.3(RYR2):c.11962+9_11962+13dup
|
rs764190942
|
|
NM_001035.3(RYR2):c.11963-11T>G
|
rs790889
|
|
NM_001035.3(RYR2):c.11963-17A>G
|
|
|
NM_001035.3(RYR2):c.11963-19G>A
|
|
|
NM_001035.3(RYR2):c.11963G>A (p.Gly3988Asp)
|
|
|
NM_001035.3(RYR2):c.11964T>A (p.Gly3988=)
|
|
|
NM_001035.3(RYR2):c.11965A>G (p.Asn3989Asp)
|
rs794728779
|
|
NM_001035.3(RYR2):c.11967T>G (p.Asn3989Lys)
|
rs2149351960
|
|
NM_001035.3(RYR2):c.11969T>C (p.Val3990Ala)
|
rs1210976038
|
|
NM_001035.3(RYR2):c.1196T>C (p.Met399Thr)
|
rs1708243535
|
|
NM_001035.3(RYR2):c.11971G>A (p.Val3991Ile)
|
|
|
NM_001035.3(RYR2):c.1197G>C (p.Met399Ile)
|
|
|
NM_001035.3(RYR2):c.11984T>C (p.Ile3995Thr)
|
|
|
NM_001035.3(RYR2):c.11986G>A (p.Gly3996Ser)
|
rs1060500160
|
|
NM_001035.3(RYR2):c.11989A>G (p.Lys3997Glu)
|
rs1064794210
|
|
NM_001035.3(RYR2):c.1198G>A (p.Asp400Asn)
|
rs1553454821
|
|
NM_001035.3(RYR2):c.11992C>T (p.Gln3998Ter)
|
rs1558403704
|
|
NM_001035.3(RYR2):c.1199A>C (p.Asp400Ala)
|
|
|
NM_001035.3(RYR2):c.1199A>G (p.Asp400Gly)
|
|
|
NM_001035.3(RYR2):c.11G>T (p.Gly4Val)
|
rs866878858
|
|
NM_001035.3(RYR2):c.12000G>A (p.Val4000=)
|
|
|
NM_001035.3(RYR2):c.12001G>A (p.Asp4001Asn)
|
rs1553322501
|
|
NM_001035.3(RYR2):c.12001G>C (p.Asp4001His)
|
rs1553322501
|
|
NM_001035.3(RYR2):c.12014A>G (p.Glu4005Gly)
|
rs1695315832
|
|
NM_001035.3(RYR2):c.12022AAC[1] (p.Asn4009del)
|
rs1573931958
|
|
NM_001035.3(RYR2):c.12026A>G (p.Asn4009Ser)
|
rs1396528117
|
|
NM_001035.3(RYR2):c.12031G>A (p.Glu4011Lys)
|
rs771155451
|
|
NM_001035.3(RYR2):c.12033G>A (p.Glu4011=)
|
|
|
NM_001035.3(RYR2):c.12042C>G (p.Leu4014=)
|
|
|
NM_001035.3(RYR2):c.12045A>G (p.Lys4015=)
|
|
|
NM_001035.3(RYR2):c.12051T>C (p.Phe4017=)
|
|
|
NM_001035.3(RYR2):c.12060C>T (p.Phe4020=)
|
|
|
NM_001035.3(RYR2):c.12080C>T (p.Thr4027Met)
|
|
|
NM_001035.3(RYR2):c.12081G>A (p.Thr4027=)
|
rs1695321287
|
|
NM_001035.3(RYR2):c.12093T>G (p.Thr4031=)
|
|
|
NM_001035.3(RYR2):c.12106G>A (p.Asp4036Asn)
|
rs748216455
|
|
NM_001035.3(RYR2):c.12111C>A (p.Pro4037=)
|
|
|
NM_001035.3(RYR2):c.12112G>A (p.Asp4038Asn)
|
|
|
NM_001035.3(RYR2):c.12116G>T (p.Gly4039Val)
|
rs749706996
|
|
NM_001035.3(RYR2):c.12117C>G (p.Gly4039=)
|
|
|
NM_001035.3(RYR2):c.12138G>A (p.Arg4046=)
|
rs2149352520
|
|
NM_001035.3(RYR2):c.12139G>C (p.Asp4047His)
|
rs727505103
|
|
NM_001035.3(RYR2):c.12139G>T (p.Asp4047Tyr)
|
rs727505103
|
|
NM_001035.3(RYR2):c.12141C>T (p.Asp4047=)
|
rs1232796204
|
|
NM_001035.3(RYR2):c.12142T>G (p.Phe4048Val)
|
|
|
NM_001035.3(RYR2):c.1215G>A (p.Leu405=)
|
|
|
NM_001035.3(RYR2):c.12168G>T (p.Lys4056Asn)
|
rs1573932788
|
|
NM_001035.3(RYR2):c.12179A>G (p.Gln4060Arg)
|
|
|
NM_001035.3(RYR2):c.1218G>C (p.Ser406=)
|
rs147389346
|
|
NM_001035.3(RYR2):c.1219A>C (p.Arg407=)
|
rs1382123934
|
|
NM_001035.3(RYR2):c.12209C>T (p.Ala4070Val)
|
|
|
NM_001035.3(RYR2):c.1220G>T (p.Arg407Ile)
|
rs794728720
|
|
NM_001035.3(RYR2):c.12214A>C (p.Thr4072Pro)
|
rs1558404448
|
|
NM_001035.3(RYR2):c.12216G>A (p.Thr4072=)
|
|
|
NM_001035.3(RYR2):c.12220G>A (p.Glu4074Lys)
|
|
|
NM_001035.3(RYR2):c.12225T>C (p.Asn4075=)
|
rs2149352904
|
|
NM_001035.3(RYR2):c.12230C>T (p.Thr4077Ile)
|
|
|
NM_001035.3(RYR2):c.12231C>A (p.Thr4077=)
|
rs1325431679
|
|
NM_001035.3(RYR2):c.12232C>T (p.Leu4078Phe)
|
|
|
NM_001035.3(RYR2):c.12235G>A (p.Asp4079Asn)
|
rs868071612
|
|
NM_001035.3(RYR2):c.12239A>G (p.Tyr4080Cys)
|
rs794728781
|
|
NM_001035.3(RYR2):c.12240C>T (p.Tyr4080=)
|
rs1335612184
|
|
NM_001035.3(RYR2):c.12243A>G (p.Glu4081=)
|
rs766202701
|
|
NM_001035.3(RYR2):c.12244G>C (p.Glu4082Gln)
|
rs774241742
|
|
NM_001035.3(RYR2):c.12245A>C (p.Glu4082Ala)
|
rs1057524762
|
|
NM_001035.3(RYR2):c.12249C>A (p.Phe4083Leu)
|
rs371599450
|
|
NM_001035.3(RYR2):c.12249C>T (p.Phe4083=)
|
rs371599450
|
|
NM_001035.3(RYR2):c.12250G>A (p.Val4084Ile)
|
rs1695339297
|
|
NM_001035.3(RYR2):c.12258C>T (p.Arg4086=)
|
rs2149353086
|
|
NM_001035.3(RYR2):c.12264C>T (p.His4088=)
|
rs1558404698
|
|
NM_001035.3(RYR2):c.12265G>A (p.Glu4089Lys)
|
|
|
NM_001035.3(RYR2):c.12268C>G (p.Pro4090Ala)
|
|
|
NM_001035.3(RYR2):c.12268C>T (p.Pro4090Ser)
|
rs794728782
|
|
NM_001035.3(RYR2):c.12269C>T (p.Pro4090Leu)
|
rs2149353116
|
|
NM_001035.3(RYR2):c.1226A>G (p.Gln409Arg)
|
|
|
NM_001035.3(RYR2):c.12271_12272delinsAG (p.Ala4091Arg)
|
rs794728837
|
|
NM_001035.3(RYR2):c.12272C>G (p.Ala4091Gly)
|
|
|
NM_001035.3(RYR2):c.12272C>T (p.Ala4091Val)
|
rs794728783
|
|
NM_001035.3(RYR2):c.12273G>C (p.Ala4091=)
|
rs966083978
|
|
NM_001035.3(RYR2):c.12280A>G (p.Ile4094Val)
|
rs1573933519
|
|
NM_001035.3(RYR2):c.12282C>A (p.Ile4094=)
|
|
|
NM_001035.3(RYR2):c.12289A>G (p.Asn4097Asp)
|
rs1695343403
|
|
NM_001035.3(RYR2):c.12290A>G (p.Asn4097Ser)
|
rs794728784
|
|
NM_001035.3(RYR2):c.1229A>G (p.His410Arg)
|
|
|
NM_001035.3(RYR2):c.1231G>A (p.Glu411Lys)
|
rs866407992
|
|
NM_001035.3(RYR2):c.12320A>C (p.Glu4107Ala)
|
rs2149353356
|
|
NM_001035.3(RYR2):c.12320A>T (p.Glu4107Val)
|
|
|
NM_001035.3(RYR2):c.12321G>A (p.Glu4107=)
|
|
|
NM_001035.3(RYR2):c.12322C>G (p.His4108Asp)
|
rs1250457347
|
|
NM_001035.3(RYR2):c.12322C>T (p.His4108Tyr)
|
|
|
NM_001035.3(RYR2):c.12325A>C (p.Met4109Leu)
|
rs730880196
|
|
NM_001035.3(RYR2):c.12325A>G (p.Met4109Val)
|
rs730880196
|
|
NM_001035.3(RYR2):c.12326T>C (p.Met4109Thr)
|
rs1373714510
|
|
NM_001035.3(RYR2):c.12327G>T (p.Met4109Ile)
|
|
|
NM_001035.3(RYR2):c.12333C>G (p.Asn4111Lys)
|
|
|
NM_001035.3(RYR2):c.12339C>A (p.Thr4113=)
|
|
|
NM_001035.3(RYR2):c.12342A>G (p.Arg4114=)
|
|
|
NM_001035.3(RYR2):c.12343C>T (p.Leu4115Phe)
|
rs1695349832
|
|
NM_001035.3(RYR2):c.12344T>G (p.Leu4115Arg)
|
|
|
NM_001035.3(RYR2):c.12348G>T (p.Gln4116His)
|
rs2149353492
|
|
NM_001035.3(RYR2):c.12354T>C (p.Phe4118=)
|
|
|
NM_001035.3(RYR2):c.12357G>A (p.Leu4119=)
|
rs2149353502
|
|
NM_001035.3(RYR2):c.12369G>T (p.Glu4123Asp)
|
rs759484925
|
|
NM_001035.3(RYR2):c.1236A>G (p.Glu412=)
|
rs2150166360
|
|
NM_001035.3(RYR2):c.12372C>A (p.Ser4124Arg)
|
rs771994461
|
|
NM_001035.3(RYR2):c.12372C>T (p.Ser4124=)
|
rs771994461
|
|
NM_001035.3(RYR2):c.12375C>G (p.Val4125=)
|
rs1434635546
|
|
NM_001035.3(RYR2):c.12376C>T (p.Leu4126=)
|
|
|
NM_001035.3(RYR2):c.12385T>C (p.Phe4129Leu)
|
rs1573934226
|
|
NM_001035.3(RYR2):c.12385T>G (p.Phe4129Val)
|
rs1573934226
|
|
NM_001035.3(RYR2):c.12386del (p.Phe4129fs)
|
|
|
NM_001035.3(RYR2):c.12401G>C (p.Gly4134Ala)
|
rs1573934290
|
|
NM_001035.3(RYR2):c.12401G>T (p.Gly4134Val)
|
rs1573934290
|
|
NM_001035.3(RYR2):c.12402C>A (p.Gly4134=)
|
rs2149353678
|
|
NM_001035.3(RYR2):c.12404G>T (p.Arg4135Leu)
|
rs764202302
|
|
NM_001035.3(RYR2):c.12405C>T (p.Arg4135=)
|
rs2149353701
|
|
NM_001035.3(RYR2):c.12408C>T (p.Ile4136=)
|
rs1294331175
|
|
NM_001035.3(RYR2):c.12415A>G (p.Met4139Val)
|
rs1199657338
|
|
NM_001035.3(RYR2):c.12417G>A (p.Met4139Ile)
|
|
|
NM_001035.3(RYR2):c.1241G>T (p.Arg414Leu)
|
rs371121679
|
|
NM_001035.3(RYR2):c.12423C>T (p.Ser4141=)
|
|
|
NM_001035.3(RYR2):c.12424G>A (p.Ala4142Thr)
|
rs761834154
|
|
NM_001035.3(RYR2):c.12426C>T (p.Ala4142=)
|
rs1573934435
|
|
NM_001035.3(RYR2):c.1242C>T (p.Arg414=)
|
|
|
NM_001035.3(RYR2):c.12430C>T (p.Arg4144Cys)
|
rs1298823746
|
|
NM_001035.3(RYR2):c.12431G>T (p.Arg4144Leu)
|
|
|
NM_001035.3(RYR2):c.1243A>G (p.Thr415Ala)
|
rs545357663
|
|
NM_001035.3(RYR2):c.12446A>G (p.Tyr4149Cys)
|
rs1234449785
|
|
NM_001035.3(RYR2):c.12447T>C (p.Tyr4149=)
|
rs2149353878
|
|
NM_001035.3(RYR2):c.12458G>C (p.Ser4153Thr)
|
rs999437630
|
|
NM_001035.3(RYR2):c.12458G>T (p.Ser4153Ile)
|
rs999437630
|
|
NM_001035.3(RYR2):c.12463T>A (p.Ser4155Thr)
|
rs1060500135
|
|
NM_001035.3(RYR2):c.12464C>A (p.Ser4155Tyr)
|
rs2149353940
|
|
NM_001035.3(RYR2):c.12468C>T (p.Ser4156=)
|
|
|
NM_001035.3(RYR2):c.12470G>A (p.Arg4157Gln)
|
rs794728786
|
|
NM_001035.3(RYR2):c.12475C>A (p.Gln4159Lys)
|
|
|
NM_001035.3(RYR2):c.12477G>T (p.Gln4159His)
|
rs1558405653
|
|
NM_001035.3(RYR2):c.12487C>G (p.Pro4163Ala)
|
|
|
NM_001035.3(RYR2):c.12494T>C (p.Val4165Ala)
|
|
|
NM_001035.3(RYR2):c.1249C>T (p.Arg417Ter)
|
rs564822776
|
|
NM_001035.3(RYR2):c.12508A>G (p.Arg4170Gly)
|
|
|
NM_001035.3(RYR2):c.1250G>T (p.Arg417Leu)
|
rs751428303
|
|
NM_001035.3(RYR2):c.12510_12513dup (p.Phe4172fs)
|
rs1553322884
|
|
NM_001035.3(RYR2):c.12511C>G (p.Gln4171Glu)
|
|
|
NM_001035.3(RYR2):c.12519A>G (p.Ile4173Met)
|
rs1553322892
|
|
NM_001035.3(RYR2):c.12521T>A (p.Phe4174Tyr)
|
|
|
NM_001035.3(RYR2):c.12521T>G (p.Phe4174Cys)
|
|
|
NM_001035.3(RYR2):c.12525C>A (p.Asp4175Glu)
|
rs1347472531
|
|
NM_001035.3(RYR2):c.12525C>T (p.Asp4175=)
|
rs1347472531
|
|
NM_001035.3(RYR2):c.12530T>A (p.Val4177Asp)
|
rs1553322906
|
|
NM_001035.3(RYR2):c.12530T>C (p.Val4177Ala)
|
rs1553322906
|
|
NM_001035.3(RYR2):c.12532A>T (p.Asn4178Tyr)
|
rs1481201233
|
|
NM_001035.3(RYR2):c.12533A>G (p.Asn4178Ser)
|
rs794728787
|
|
NM_001035.3(RYR2):c.12534C>T (p.Asn4178=)
|
|
|
NM_001035.3(RYR2):c.12535G>A (p.Glu4179Lys)
|
rs867488053
|
|
NM_001035.3(RYR2):c.12539G>T (p.Gly4180Val)
|
rs1558405816
|
|
NM_001035.3(RYR2):c.12545A>C (p.Glu4182Ala)
|
rs794728788
|
|
NM_001035.3(RYR2):c.12549A>C (p.Lys4183Asn)
|
rs760519665
|
|
NM_001035.3(RYR2):c.1255A>T (p.Ile419Phe)
|
|
|
NM_001035.3(RYR2):c.12568G>A (p.Val4190Met)
|
rs1308975705
|
|
NM_001035.3(RYR2):c.12568G>C (p.Val4190Leu)
|
rs1308975705
|
|
NM_001035.3(RYR2):c.12569T>A (p.Val4190Glu)
|
rs1064794753
|
|
NM_001035.3(RYR2):c.1256T>G (p.Ile419Ser)
|
rs1553454866
|
|
NM_001035.3(RYR2):c.12571A>G (p.Asn4191Asp)
|
|
|
NM_001035.3(RYR2):c.12574T>G (p.Phe4192Val)
|
|
|
NM_001035.3(RYR2):c.12578G>A (p.Cys4193Tyr)
|
rs1573935244
|
|
NM_001035.3(RYR2):c.12580G>A (p.Glu4194Lys)
|
|
|
NM_001035.3(RYR2):c.12582G>A (p.Glu4194=)
|
rs2149354363
|
|
NM_001035.3(RYR2):c.12587C>T (p.Thr4196Ile)
|
rs2149354389
|
|
NM_001035.3(RYR2):c.12588C>T (p.Thr4196=)
|
|
|
NM_001035.3(RYR2):c.12589A>C (p.Ile4197Leu)
|
rs765238394
|
|
NM_001035.3(RYR2):c.12589A>G (p.Ile4197Val)
|
rs765238394
|
|
NM_001035.3(RYR2):c.1258C>A (p.Arg420=)
|
rs190140598
|
|
NM_001035.3(RYR2):c.1259G>A (p.Arg420Gln)
|
rs794728721
|
|
NM_001035.3(RYR2):c.12602A>G (p.Gln4201Arg)
|
rs121918605
|
|
NM_001035.3(RYR2):c.12603G>T (p.Gln4201His)
|
rs2149354441
|
|
NM_001035.3(RYR2):c.12606G>A (p.Leu4202=)
|
rs2149354452
|
|
NM_001035.3(RYR2):c.12608C>T (p.Ala4203Val)
|
rs794728792
|
|
NM_001035.3(RYR2):c.12609G>A (p.Ala4203=)
|
rs372943408
|
|
NM_001035.3(RYR2):c.12609G>T (p.Ala4203=)
|
rs372943408
|
|
NM_001035.3(RYR2):c.12612T>C (p.Ala4204=)
|
|
|
NM_001035.3(RYR2):c.12614A>G (p.Gln4205Arg)
|
|
|
NM_001035.3(RYR2):c.12620C>T (p.Ser4207Leu)
|
rs2149354495
|
|
NM_001035.3(RYR2):c.12626C>T (p.Ser4209Leu)
|
|
|
NM_001035.3(RYR2):c.12636C>T (p.Asn4212=)
|
|
|
NM_001035.3(RYR2):c.12637G>A (p.Glu4213Lys)
|
rs1695373966
|
|
NM_001035.3(RYR2):c.1263C>T (p.Ser421=)
|
|
|
NM_001035.3(RYR2):c.12647C>A (p.Ala4216Glu)
|
|
|
NM_001035.3(RYR2):c.12647C>T (p.Ala4216Val)
|
|
|
NM_001035.3(RYR2):c.1264A>C (p.Thr422Pro)
|
|
|
NM_001035.3(RYR2):c.1264A>G (p.Thr422Ala)
|
rs1350054663
|
|
NM_001035.3(RYR2):c.12655G>A (p.Glu4219Lys)
|
rs1417926762
|
|
NM_001035.3(RYR2):c.12660A>G (p.Glu4220=)
|
rs1323430299
|
|
NM_001035.3(RYR2):c.12666G>A (p.Glu4222=)
|
rs1573935771
|
|
NM_001035.3(RYR2):c.12667A>G (p.Lys4223Glu)
|
|
|
NM_001035.3(RYR2):c.12667_12669del (p.Lys4223del)
|
rs794728838
|
|
NM_001035.3(RYR2):c.1266A>G (p.Thr422=)
|
rs928759971
|
|
NM_001035.3(RYR2):c.12678G>A (p.Pro4226=)
|
|
|
NM_001035.3(RYR2):c.12678G>T (p.Pro4226=)
|
rs768348987
|
|
NM_001035.3(RYR2):c.12679G>A (p.Glu4227Lys)
|
rs2149354765
|
|
NM_001035.3(RYR2):c.12681A>G (p.Glu4227=)
|
|
|
NM_001035.3(RYR2):c.12682G>A (p.Glu4228Lys)
|
|
|
NM_001035.3(RYR2):c.12692C>A (p.Pro4231Gln)
|
rs1321340277
|
|
NM_001035.3(RYR2):c.12692dup (p.Arg4232fs)
|
|
|
NM_001035.3(RYR2):c.12697A>G (p.Met4233Val)
|
rs2149354852
|
|
NM_001035.3(RYR2):c.12708C>T (p.Phe4236=)
|
rs2149354917
|
|
NM_001035.3(RYR2):c.12711C>T (p.Ser4237=)
|
rs1412516019
|
|
NM_001035.3(RYR2):c.12717G>C (p.Leu4239=)
|
|
|
NM_001035.3(RYR2):c.12718A>G (p.Thr4240Ala)
|
|
|
NM_001035.3(RYR2):c.12720G>A (p.Thr4240=)
|
rs774851947
|
|
NM_001035.3(RYR2):c.12726G>A (p.Arg4242=)
|
|
|
NM_001035.3(RYR2):c.12730G>T (p.Ala4244Ser)
|
|
|
NM_001035.3(RYR2):c.12732C>G (p.Ala4244=)
|
rs767833620
|
|
NM_001035.3(RYR2):c.12735G>A (p.Leu4245=)
|
|
|
NM_001035.3(RYR2):c.12740C>T (p.Ala4247Val)
|
|
|
NM_001035.3(RYR2):c.12741G>A (p.Ala4247=)
|
rs753089069
|
|
NM_001035.3(RYR2):c.12742C>A (p.Leu4248Ile)
|
|
|
NM_001035.3(RYR2):c.12745A>T (p.Arg4249Trp)
|
rs1695385129
|
|
NM_001035.3(RYR2):c.12750C>T (p.Tyr4250=)
|
rs2149355086
|
|
NM_001035.3(RYR2):c.12753T>C (p.Asn4251=)
|
|
|
NM_001035.3(RYR2):c.12759G>A (p.Leu4253=)
|
rs2149355131
|
|
NM_001035.3(RYR2):c.12773T>C (p.Met4258Thr)
|
|
|
NM_001035.3(RYR2):c.12775C>T (p.Leu4259Phe)
|
|
|
NM_001035.3(RYR2):c.12777C>T (p.Leu4259=)
|
|
|
NM_001035.3(RYR2):c.12780T>C (p.Ser4260=)
|
|
|
NM_001035.3(RYR2):c.12785A>G (p.Lys4262Arg)
|
|
|
NM_001035.3(RYR2):c.12791T>G (p.Leu4264Arg)
|
rs2149355228
|
|
NM_001035.3(RYR2):c.12792G>A (p.Leu4264=)
|
rs749454470
|
|
NM_001035.3(RYR2):c.12795G>A (p.Lys4265=)
|
rs1695389411
|
|
NM_001035.3(RYR2):c.12800A>G (p.Gln4267Arg)
|
|
|
NM_001035.3(RYR2):c.12801G>A (p.Gln4267=)
|
|
|
NM_001035.3(RYR2):c.1280A>G (p.Asn427Ser)
|
rs753007912
|
|
NM_001035.3(RYR2):c.12811G>A (p.Val4271Ile)
|
|
|
NM_001035.3(RYR2):c.12814A>G (p.Lys4272Glu)
|
|
|
NM_001035.3(RYR2):c.1281T>C (p.Asn427=)
|
rs375691875
|
|
NM_001035.3(RYR2):c.12835A>G (p.Met4279Val)
|
|
|
NM_001035.3(RYR2):c.12838G>A (p.Val4280Ile)
|
|
|
NM_001035.3(RYR2):c.12843G>T (p.Thr4281=)
|
|
|
NM_001035.3(RYR2):c.12845C>T (p.Ala4282Val)
|
|
|
NM_001035.3(RYR2):c.12846C>G (p.Ala4282=)
|
|
|
NM_001035.3(RYR2):c.12857C>G (p.Ser4286Cys)
|
rs2149355491
|
|
NM_001035.3(RYR2):c.12861C>G (p.Tyr4287Ter)
|
rs570414987
|
|
NM_001035.3(RYR2):c.12861C>T (p.Tyr4287=)
|
|
|
NM_001035.3(RYR2):c.12874A>G (p.Met4292Val)
|
|
|
NM_001035.3(RYR2):c.12878C>T (p.Thr4293Ile)
|
|
|
NM_001035.3(RYR2):c.12880C>T (p.Leu4294Phe)
|
|
|
NM_001035.3(RYR2):c.12883T>C (p.Leu4295=)
|
|
|
NM_001035.3(RYR2):c.12892G>A (p.Val4298Met)
|
rs745927659
|
|
NM_001035.3(RYR2):c.12893T>C (p.Val4298Ala)
|
rs984942880
|
|
NM_001035.3(RYR2):c.12898_12899delinsCC (p.Ser4300Pro)
|
|
|
NM_001035.3(RYR2):c.12898_12909del (p.Ser4300_Arg4303del)
|
|
|
NM_001035.3(RYR2):c.12899G>A (p.Ser4300Asn)
|
rs998814994
|
|
NM_001035.3(RYR2):c.12901G>A (p.Val4301Ile)
|
rs772007722
|
|
NM_001035.3(RYR2):c.12909A>C (p.Arg4303Ser)
|
|
|
NM_001035.3(RYR2):c.12918C>T (p.Phe4306=)
|
rs1558407346
|
|
NM_001035.3(RYR2):c.1292+10C>A
|
|
|
NM_001035.3(RYR2):c.1292+15G>A
|
|
|
NM_001035.3(RYR2):c.1292+16T>C
|
rs2150166881
|
|
NM_001035.3(RYR2):c.1292+3A>G
|
rs1572361996
|
|
NM_001035.3(RYR2):c.1292+4C>A
|
|
|
NM_001035.3(RYR2):c.1292+7T>G
|
rs1572362013
|
|
NM_001035.3(RYR2):c.1292+8T>C
|
rs1572362036
|
|
NM_001035.3(RYR2):c.1293-13T>C
|
|
|
NM_001035.3(RYR2):c.1293-14A>G
|
rs752527636
|
|
NM_001035.3(RYR2):c.1293-14A>T
|
rs752527636
|
|
NM_001035.3(RYR2):c.1293-18G>A
|
rs1572400333
|
|
NM_001035.3(RYR2):c.1293-6T>C
|
rs756239888
|
|
NM_001035.3(RYR2):c.12931A>C (p.Ser4311Arg)
|
rs2149355805
|
|
NM_001035.3(RYR2):c.12934C>T (p.Leu4312=)
|
|
|
NM_001035.3(RYR2):c.12936G>A (p.Leu4312=)
|
rs2149355823
|
|
NM_001035.3(RYR2):c.12939G>C (p.Leu4313=)
|
rs893697261
|
|
NM_001035.3(RYR2):c.1293G>A (p.Arg431=)
|
rs1658550441
|
|
NM_001035.3(RYR2):c.12940C>T (p.Leu4314Phe)
|
|
|
NM_001035.3(RYR2):c.12946_12947del (p.Gly4316fs)
|
rs2149355859
|
|
NM_001035.3(RYR2):c.12947G>T (p.Gly4316Val)
|
rs1471117005
|
|
NM_001035.3(RYR2):c.12950G>T (p.Ser4317Ile)
|
|
|
NM_001035.3(RYR2):c.12960A>T (p.Glu4320Asp)
|
|
|
NM_001035.3(RYR2):c.12962G>T (p.Gly4321Val)
|
|
|
NM_001035.3(RYR2):c.12963T>C (p.Gly4321=)
|
|
|
NM_001035.3(RYR2):c.12966T>A (p.Ala4322=)
|
|
|
NM_001035.3(RYR2):c.12967A>G (p.Lys4323Glu)
|
|
|
NM_001035.3(RYR2):c.1296C>T (p.Gly432=)
|
rs184176405
|
|
NM_001035.3(RYR2):c.12972G>T (p.Lys4324Asn)
|
|
|
NM_001035.3(RYR2):c.1297C>T (p.Leu433Phe)
|
|
|
NM_001035.3(RYR2):c.12980T>A (p.Val4327Asp)
|
|
|
NM_001035.3(RYR2):c.12980T>C (p.Val4327Ala)
|
|
|
NM_001035.3(RYR2):c.12982G>A (p.Ala4328Thr)
|
|
|
NM_001035.3(RYR2):c.12990G>T (p.Leu4330=)
|
rs1558407591
|
|
NM_001035.3(RYR2):c.12997A>G (p.Asn4333Asp)
|
rs371680410
|
|
NM_001035.3(RYR2):c.129C>T (p.Gly43=)
|
rs749566745
|
|
NM_001035.3(RYR2):c.13002G>A (p.Met4334Ile)
|
|
|
NM_001035.3(RYR2):c.13009C>A (p.Pro4337Thr)
|
|
|
NM_001035.3(RYR2):c.1300G>A (p.Asp434Asn)
|
rs1658551806
|
|
NM_001035.3(RYR2):c.13012A>G (p.Thr4338Ala)
|
|
|
NM_001035.3(RYR2):c.13012A>T (p.Thr4338Ser)
|
|
|
NM_001035.3(RYR2):c.13018G>A (p.Asp4340Asn)
|
|
|
NM_001035.3(RYR2):c.13022_13036del (p.Glu4341_Asp4345del)
|
|
|
NM_001035.3(RYR2):c.13023G>A (p.Glu4341=)
|
rs2149356131
|
|
NM_001035.3(RYR2):c.13031G>A (p.Gly4344Glu)
|
|
|
NM_001035.3(RYR2):c.13041G>A (p.Glu4347=)
|
|
|
NM_001035.3(RYR2):c.13044G>T (p.Glu4348Asp)
|
rs559197657
|
|
NM_001035.3(RYR2):c.13047A>G (p.Gly4349=)
|
rs2149356229
|
|
NM_001035.3(RYR2):c.13048G>C (p.Glu4350Gln)
|
|
|
NM_001035.3(RYR2):c.13049A>G (p.Glu4350Gly)
|
|
|
NM_001035.3(RYR2):c.13057C>G (p.Pro4353Ala)
|
|
|
NM_001035.3(RYR2):c.13065A>G (p.Glu4355=)
|
rs1695412040
|
|
NM_001035.3(RYR2):c.13067C>T (p.Ala4356Val)
|
rs981875785
|
|
NM_001035.3(RYR2):c.13072C>T (p.Leu4358=)
|
|
|
NM_001035.3(RYR2):c.13077C>T (p.Pro4359=)
|
rs1695413897
|
|
NM_001035.3(RYR2):c.13078T>G (p.Ser4360Ala)
|
rs1420181587
|
|
NM_001035.3(RYR2):c.13080C>G (p.Ser4360=)
|
rs369964660
|
|
NM_001035.3(RYR2):c.13081G>C (p.Glu4361Gln)
|
|
|
NM_001035.3(RYR2):c.13092C>T (p.Thr4364=)
|
|
|
NM_001035.3(RYR2):c.13098A>G (p.Leu4366=)
|
rs2149356435
|
|
NM_001035.3(RYR2):c.1309A>G (p.Ser437Gly)
|
rs1658552670
|
|
NM_001035.3(RYR2):c.13100A>G (p.Lys4367Arg)
|
rs2149356442
|
|
NM_001035.3(RYR2):c.13101G>A (p.Lys4367=)
|
|
|
NM_001035.3(RYR2):c.13106T>C (p.Leu4369Pro)
|
|
|
NM_001035.3(RYR2):c.13107G>A (p.Leu4369=)
|
rs1573937954
|
|
NM_001035.3(RYR2):c.13114G>A (p.Glu4372Lys)
|
rs1294591565
|
|
NM_001035.3(RYR2):c.13120G>A (p.Asp4374Asn)
|
|
|
NM_001035.3(RYR2):c.13130C>T (p.Ser4377Leu)
|
rs869025514
|
|
NM_001035.3(RYR2):c.13131G>A (p.Ser4377=)
|
|
|
NM_001035.3(RYR2):c.13134C>T (p.Asp4378=)
|
|
|
NM_001035.3(RYR2):c.1314G>A (p.Lys438=)
|
rs2150216878
|
|
NM_001035.3(RYR2):c.13156A>C (p.Arg4386=)
|
|
|
NM_001035.3(RYR2):c.13163G>A (p.Gly4388Glu)
|
rs1695420157
|
|
NM_001035.3(RYR2):c.13165G>A (p.Gly4389Arg)
|
|
|
NM_001035.3(RYR2):c.13167A>G (p.Gly4389=)
|
rs878854152
|
|
NM_001035.3(RYR2):c.13169A>G (p.Gln4390Arg)
|
rs763987225
|
|
NM_001035.3(RYR2):c.1316A>C (p.Lys439Thr)
|
rs1658553532
|
|
NM_001035.3(RYR2):c.13173C>T (p.Tyr4391=)
|
|
|
NM_001035.3(RYR2):c.13184C>T (p.Pro4395Leu)
|
rs1695422438
|
|
NM_001035.3(RYR2):c.13187A>G (p.His4396Arg)
|
rs1060500161
|
|
NM_001035.3(RYR2):c.13202G>A (p.Gly4401Glu)
|
|
|
NM_001035.3(RYR2):c.13206C>G (p.Leu4402=)
|
|
|
NM_001035.3(RYR2):c.13209T>C (p.Ser4403=)
|
|
|
NM_001035.3(RYR2):c.1320G>C (p.Ala440=)
|
rs887478410
|
|
NM_001035.3(RYR2):c.13218G>A (p.Met4406Ile)
|
|
|
NM_001035.3(RYR2):c.13224C>G (p.Asn4408Lys)
|
|
|
NM_001035.3(RYR2):c.13226C>G (p.Pro4409Arg)
|
|
|
NM_001035.3(RYR2):c.13228G>C (p.Val4410Leu)
|
|
|
NM_001035.3(RYR2):c.13229T>C (p.Val4410Ala)
|
rs748604898
|
|
NM_001035.3(RYR2):c.13233C>T (p.Pro4411=)
|
rs770195281
|
|
NM_001035.3(RYR2):c.13234A>C (p.Met4412Leu)
|
rs2149356919
|
|
NM_001035.3(RYR2):c.13234A>G (p.Met4412Val)
|
rs2149356919
|
|
NM_001035.3(RYR2):c.13239T>C (p.Pro4413=)
|
|
|
NM_001035.3(RYR2):c.1323G>A (p.Lys441=)
|
|
|
NM_001035.3(RYR2):c.13240G>C (p.Glu4414Gln)
|
|
|
NM_001035.3(RYR2):c.13248G>A (p.Gln4416=)
|
|
|
NM_001035.3(RYR2):c.1324G>C (p.Ala442Pro)
|
rs747344666
|
|
NM_001035.3(RYR2):c.13260+10C>G
|
|
|
NM_001035.3(RYR2):c.13260+10C>T
|
rs1695431070
|
|
NM_001035.3(RYR2):c.13260+13T>A
|
|
|
NM_001035.3(RYR2):c.13260+14_13260+15delinsGG
|
|
|
NM_001035.3(RYR2):c.13260+18C>T
|
|
|
NM_001035.3(RYR2):c.13260+19dup
|
rs2149357145
|
|
NM_001035.3(RYR2):c.13260+3_13260+6dup
|
rs1553323690
|
|
NM_001035.3(RYR2):c.13261-10C>T
|
|
|
NM_001035.3(RYR2):c.13261-14T>C
|
|
|
NM_001035.3(RYR2):c.13261-6T>C
|
|
|
NM_001035.3(RYR2):c.13261-8C>T
|
rs2149359851
|
|
NM_001035.3(RYR2):c.13261-9T>C
|
rs766481385
|
|
NM_001035.3(RYR2):c.13264C>T (p.Gln4422Ter)
|
|
|
NM_001035.3(RYR2):c.13269G>A (p.Lys4423=)
|
rs1695515888
|
|
NM_001035.3(RYR2):c.1326T>G (p.Ala442=)
|
|
|
NM_001035.3(RYR2):c.13273A>G (p.Lys4425Glu)
|
rs2149359920
|
|
NM_001035.3(RYR2):c.13276GAA[2] (p.Glu4428del)
|
rs869025516
|
|
NM_001035.3(RYR2):c.13279G>A (p.Glu4427Lys)
|
rs1695516581
|
|
NM_001035.3(RYR2):c.13280A>T (p.Glu4427Val)
|
|
|
NM_001035.3(RYR2):c.13288G>A (p.Glu4430Lys)
|
rs2149359974
|
|
NM_001035.3(RYR2):c.13296A>G (p.Lys4432=)
|
|
|
NM_001035.3(RYR2):c.13304C>G (p.Thr4435Ser)
|
|
|
NM_001035.3(RYR2):c.13312G>C (p.Glu4438Gln)
|
|
|
NM_001035.3(RYR2):c.13315C>T (p.Pro4439Ser)
|
|
|
NM_001035.3(RYR2):c.13316C>G (p.Pro4439Arg)
|
|
|
NM_001035.3(RYR2):c.13325C>T (p.Ala4442Val)
|
rs1553324230
|
|
NM_001035.3(RYR2):c.13328+14G>T
|
|
|
NM_001035.3(RYR2):c.13328+15C>A
|
|
|
NM_001035.3(RYR2):c.13328+15C>T
|
|
|
NM_001035.3(RYR2):c.13328+16A>G
|
|
|
NM_001035.3(RYR2):c.13328+4T>C
|
rs1356215434
|
|
NM_001035.3(RYR2):c.13329-10G>T
|
|
|
NM_001035.3(RYR2):c.13329-14del
|
|
|
NM_001035.3(RYR2):c.13329-19T>C
|
|
|
NM_001035.3(RYR2):c.13329-20T>G
|
|
|
NM_001035.3(RYR2):c.13329-21TTTG[2]
|
|
|
NM_001035.3(RYR2):c.13329-4A>G
|
|
|
NM_001035.3(RYR2):c.13329-6T>C
|
|
|
NM_001035.3(RYR2):c.13337A>G (p.Asp4446Gly)
|
rs2149367007
|
|
NM_001035.3(RYR2):c.13346A>T (p.Lys4449Ile)
|
|
|
NM_001035.3(RYR2):c.13347AGA[4] (p.Glu4450_Glu4451dup)
|
rs2149367035
|
|
NM_001035.3(RYR2):c.1334T>C (p.Val445Ala)
|
|
|
NM_001035.3(RYR2):c.13350A>G (p.Glu4450=)
|
rs1657867796
|
|
NM_001035.3(RYR2):c.13357G>C (p.Ala4453Pro)
|
rs1573952018
|
|
NM_001035.3(RYR2):c.13358_13366del (p.Ala4453_Glu4455del)
|
|
|
NM_001035.3(RYR2):c.13361A>C (p.Lys4454Thr)
|
rs1485986182
|
|
NM_001035.3(RYR2):c.13368C>T (p.Asp4456=)
|
rs1573952064
|
|
NM_001035.3(RYR2):c.1336G>A (p.Asp446Asn)
|
rs748867973
|
|
NM_001035.3(RYR2):c.1336G>T (p.Asp446Tyr)
|
|
|
NM_001035.3(RYR2):c.13371G>T (p.Lys4457Asn)
|
rs769311004
|
|
NM_001035.3(RYR2):c.13372G>C (p.Gly4458Arg)
|
|
|
NM_001035.3(RYR2):c.13376A>T (p.Lys4459Ile)
|
|
|
NM_001035.3(RYR2):c.13380A>G (p.Gln4460=)
|
|
|
NM_001035.3(RYR2):c.13400C>T (p.Thr4467Ile)
|
rs933184477
|
|
NM_001035.3(RYR2):c.13406G>A (p.Arg4469Lys)
|
rs759882217
|
|
NM_001035.3(RYR2):c.13412G>C (p.Gly4471Ala)
|
rs1553325274
|
|
NM_001035.3(RYR2):c.13417C>A (p.Pro4473Thr)
|
rs571824543
|
|
NM_001035.3(RYR2):c.13424T>A (p.Val4475Glu)
|
rs1347737490
|
|
NM_001035.3(RYR2):c.13426C>T (p.Pro4476Ser)
|
rs1277251368
|
|
NM_001035.3(RYR2):c.13428A>C (p.Pro4476=)
|
rs1057522551
|
|
NM_001035.3(RYR2):c.13428A>G (p.Pro4476=)
|
|
|
NM_001035.3(RYR2):c.1342C>G (p.Pro448Ala)
|
rs369933531
|
|
NM_001035.3(RYR2):c.13434A>T (p.Ser4478=)
|
|
|
NM_001035.3(RYR2):c.13442G>A (p.Trp4481Ter)
|
|
|
NM_001035.3(RYR2):c.13443G>A (p.Trp4481Ter)
|
|
|
NM_001035.3(RYR2):c.13448A>C (p.Lys4483Thr)
|
|
|
NM_001035.3(RYR2):c.1344T>C (p.Pro448=)
|
rs772076225
|
|
NM_001035.3(RYR2):c.13450_13453dup (p.Ile4485fs)
|
|
|
NM_001035.3(RYR2):c.13456G>A (p.Ala4486Thr)
|
|
|
NM_001035.3(RYR2):c.13458A>T (p.Ala4486=)
|
rs1657881375
|
|
NM_001035.3(RYR2):c.13465C>A (p.Gln4489Lys)
|
rs1657881640
|
|
NM_001035.3(RYR2):c.13475T>C (p.Leu4492Pro)
|
|
|
NM_001035.3(RYR2):c.13476+6A>T
|
rs1457866950
|
|
NM_001035.3(RYR2):c.13476+8_13476+11dup
|
rs864309562
|
|
NM_001035.3(RYR2):c.13476+9T>C
|
|
|
NM_001035.3(RYR2):c.13489C>T (p.Arg4497Cys)
|
rs121918600
|
|
NM_001035.3(RYR2):c.13490G>A (p.Arg4497His)
|
rs867681818
|
|
NM_001035.3(RYR2):c.13494C>T (p.Asn4498=)
|
|
|
NM_001035.3(RYR2):c.13496_13501del (p.Phe4499_Asn4501delinsTyr)
|
rs2149379033
|
|
NM_001035.3(RYR2):c.13498T>C (p.Tyr4500His)
|
rs2149379050
|
|
NM_001035.3(RYR2):c.13499A>C (p.Tyr4500Ser)
|
rs1658370845
|
|
NM_001035.3(RYR2):c.13510A>C (p.Met4504Leu)
|
|
|
NM_001035.3(RYR2):c.13520T>C (p.Leu4507Ser)
|
rs794728798
|
|
NM_001035.3(RYR2):c.13528G>A (p.Ala4510Thr)
|
rs397516510
|
|
NM_001035.3(RYR2):c.13528G>C (p.Ala4510Pro)
|
rs397516510
|
|
NM_001035.3(RYR2):c.13529C>T (p.Ala4510Val)
|
rs1658373672
|
|
NM_001035.3(RYR2):c.13530A>C (p.Ala4510=)
|
|
|
NM_001035.3(RYR2):c.13530A>G (p.Ala4510=)
|
rs755775674
|
|
NM_001035.3(RYR2):c.13541A>G (p.Asn4514Ser)
|
rs397516511
|
|
NM_001035.3(RYR2):c.13554C>G (p.Leu4518=)
|
|
|
NM_001035.3(RYR2):c.13560T>C (p.Tyr4520=)
|
rs963715446
|
|
NM_001035.3(RYR2):c.13563+17G>C
|
rs2149379306
|
|
NM_001035.3(RYR2):c.13563+18T>C
|
|
|
NM_001035.3(RYR2):c.13564-17T>C
|
|
|
NM_001035.3(RYR2):c.13564-18T>C
|
|
|
NM_001035.3(RYR2):c.13564-19T>C
|
|
|
NM_001035.3(RYR2):c.13569C>T (p.Ser4523=)
|
|
|
NM_001035.3(RYR2):c.13571C>T (p.Thr4524Ile)
|
|
|
NM_001035.3(RYR2):c.13573TCT[1] (p.Ser4526del)
|
rs749495172
|
|
NM_001035.3(RYR2):c.13575T>C (p.Ser4525=)
|
|
|
NM_001035.3(RYR2):c.1357A>T (p.Ser453Cys)
|
rs1259104446
|
|
NM_001035.3(RYR2):c.13581G>A (p.Val4527=)
|
|
|
NM_001035.3(RYR2):c.13587A>G (p.Glu4529=)
|
|
|
NM_001035.3(RYR2):c.13590A>T (p.Gly4530=)
|
|
|
NM_001035.3(RYR2):c.13597C>T (p.Leu4533Phe)
|
|
|
NM_001035.3(RYR2):c.13598T>C (p.Leu4533Pro)
|
rs761272973
|
|
NM_001035.3(RYR2):c.13604C>G (p.Thr4535Arg)
|
rs756839134
|
|
NM_001035.3(RYR2):c.13605G>A (p.Thr4535=)
|
rs1573967641
|
|
NM_001035.3(RYR2):c.13617T>G (p.Ser4539Arg)
|
rs1553327067
|
|
NM_001035.3(RYR2):c.13625C>G (p.Ala4542Gly)
|
|
|
NM_001035.3(RYR2):c.13627A>G (p.Lys4543Glu)
|
rs745869007
|
|
NM_001035.3(RYR2):c.1362A>C (p.Leu454=)
|
|
|
NM_001035.3(RYR2):c.1362A>G (p.Leu454=)
|
|
|
NM_001035.3(RYR2):c.13630G>A (p.Val4544Met)
|
rs1235379196
|
|
NM_001035.3(RYR2):c.13638C>T (p.Ser4546=)
|
|
|
NM_001035.3(RYR2):c.13639C>T (p.Leu4547=)
|
rs1487806159
|
|
NM_001035.3(RYR2):c.13643A>G (p.Asp4548Gly)
|
|
|
NM_001035.3(RYR2):c.13650C>T (p.Ser4550=)
|
|
|
NM_001035.3(RYR2):c.13655A>T (p.His4552Leu)
|
rs768299786
|
|
NM_001035.3(RYR2):c.13657A>G (p.Arg4553Gly)
|
|
|
NM_001035.3(RYR2):c.13666G>C (p.Ala4556Pro)
|
rs189345192
|
|
NM_001035.3(RYR2):c.13666G>T (p.Ala4556Ser)
|
rs189345192
|
|
NM_001035.3(RYR2):c.13672C>G (p.His4558Asp)
|
|
|
NM_001035.3(RYR2):c.13677T>C (p.Tyr4559=)
|
rs1658459675
|
|
NM_001035.3(RYR2):c.13687G>C (p.Glu4563Gln)
|
|
|
NM_001035.3(RYR2):c.13689G>A (p.Glu4563=)
|
rs886039157
|
|
NM_001035.3(RYR2):c.13689G>T (p.Glu4563Asp)
|
rs886039157
|
|
NM_001035.3(RYR2):c.13693A>G (p.Ser4565Gly)
|
rs2149381504
|
|
NM_001035.3(RYR2):c.13695C>A (p.Ser4565Arg)
|
|
|
NM_001035.3(RYR2):c.136C>A (p.Leu46Ile)
|
rs200643211
|
|
NM_001035.3(RYR2):c.13707G>A (p.Glu4569=)
|
rs1303471745
|
|
NM_001035.3(RYR2):c.13707G>C (p.Glu4569Asp)
|
|
|
NM_001035.3(RYR2):c.13710C>A (p.Pro4570=)
|
|
|
NM_001035.3(RYR2):c.13711A>G (p.Thr4571Ala)
|
|
|
NM_001035.3(RYR2):c.13713G>A (p.Thr4571=)
|
rs761552358
|
|
NM_001035.3(RYR2):c.13720A>T (p.Ile4574Phe)
|
|
|
NM_001035.3(RYR2):c.13729A>G (p.Ile4577Val)
|
rs1658467547
|
|
NM_001035.3(RYR2):c.1372G>T (p.Asp458Tyr)
|
|
|
NM_001035.3(RYR2):c.13731T>C (p.Ile4577=)
|
rs1424050366
|
|
NM_001035.3(RYR2):c.13732C>G (p.Leu4578Val)
|
|
|
NM_001035.3(RYR2):c.13739C>T (p.Thr4580Met)
|
rs1658469199
|
|
NM_001035.3(RYR2):c.13740G>T (p.Thr4580=)
|
rs115854664
|
|
NM_001035.3(RYR2):c.1375C>G (p.Leu459Val)
|
rs1658563996
|
|
NM_001035.3(RYR2):c.13763T>C (p.Ile4588Thr)
|
rs876661386
|
|
NM_001035.3(RYR2):c.13770C>T (p.Tyr4590=)
|
rs1260477367
|
|
NM_001035.3(RYR2):c.13771T>C (p.Tyr4591His)
|
|
|
NM_001035.3(RYR2):c.13774T>C (p.Cys4592Arg)
|
rs1193389004
|
|
NM_001035.3(RYR2):c.13778T>C (p.Leu4593Ser)
|
rs1558424746
|
|
NM_001035.3(RYR2):c.13782+10_13782+13del
|
rs775418111
|
|
NM_001035.3(RYR2):c.13782+15C>T
|
|
|
NM_001035.3(RYR2):c.13782+17C>T
|
|
|
NM_001035.3(RYR2):c.13782+18C>A
|
|
|
NM_001035.3(RYR2):c.13782+18C>T
|
|
|
NM_001035.3(RYR2):c.13782+19_13782+28del
|
|
|
NM_001035.3(RYR2):c.13782+7T>C
|
|
|
NM_001035.3(RYR2):c.13782+7T>G
|
rs1558424783
|
|
NM_001035.3(RYR2):c.13782+9G>C
|
rs1553327181
|
|
NM_001035.3(RYR2):c.13783-18T>C
|
|
|
NM_001035.3(RYR2):c.13783-2A>G
|
rs1553328145
|
|
NM_001035.3(RYR2):c.13783-3T>C
|
|
|
NM_001035.3(RYR2):c.13783-6A>C
|
rs790901
|
|
NM_001035.3(RYR2):c.13783-6A>T
|
rs790901
|
|
NM_001035.3(RYR2):c.13783-6_13783-5delinsGC
|
|
|
NM_001035.3(RYR2):c.13783-7_13783-6delinsCG
|
rs1658754384
|
|
NM_001035.3(RYR2):c.13783-9C>G
|
rs1414090080
|
|
NM_001035.3(RYR2):c.13783-9C>T
|
|
|
NM_001035.3(RYR2):c.13783G>A (p.Val4595Ile)
|
rs1430303714
|
|
NM_001035.3(RYR2):c.13789T>C (p.Leu4597=)
|
rs1253011897
|
|
NM_001035.3(RYR2):c.13798T>A (p.Phe4600Ile)
|
|
|
NM_001035.3(RYR2):c.13798T>C (p.Phe4600Leu)
|
rs2149388042
|
|
NM_001035.3(RYR2):c.1379T>C (p.Ile460Thr)
|
|
|
NM_001035.3(RYR2):c.13805G>A (p.Arg4602Gln)
|
rs1553328160
|
|
NM_001035.3(RYR2):c.13810A>G (p.Lys4604Glu)
|
rs1658760152
|
|
NM_001035.3(RYR2):c.13822C>T (p.Arg4608Trp)
|
rs794728799
|
|
NM_001035.3(RYR2):c.13823G>A (p.Arg4608Gln)
|
rs1553328170
|
|
NM_001035.3(RYR2):c.13824G>A (p.Arg4608=)
|
rs1658761246
|
|
NM_001035.3(RYR2):c.13824G>C (p.Arg4608=)
|
rs1658761246
|
|
NM_001035.3(RYR2):c.13830G>A (p.Leu4610=)
|
rs1311002036
|
|
NM_001035.3(RYR2):c.13836T>G (p.Phe4612Leu)
|
rs2149388137
|
|
NM_001035.3(RYR2):c.13848T>C (p.Tyr4616=)
|
rs2149388170
|
|
NM_001035.3(RYR2):c.13849A>G (p.Ile4617Val)
|
|
|
NM_001035.3(RYR2):c.1384T>C (p.Tyr462His)
|
|
|
NM_001035.3(RYR2):c.13854A>C (p.Thr4618=)
|
|
|
NM_001035.3(RYR2):c.1385A>C (p.Tyr462Ser)
|
rs2150217492
|
|
NM_001035.3(RYR2):c.13860G>A (p.Gln4620=)
|
rs751521335
|
|
NM_001035.3(RYR2):c.13875T>C (p.Asp4625=)
|
|
|
NM_001035.3(RYR2):c.13877T>C (p.Ile4626Thr)
|
|
|
NM_001035.3(RYR2):c.13888T>G (p.Trp4630Gly)
|
|
|
NM_001035.3(RYR2):c.13897C>G (p.Leu4633Val)
|
rs1484013155
|
|
NM_001035.3(RYR2):c.13897C>T (p.Leu4633Phe)
|
|
|
NM_001035.3(RYR2):c.13899C>T (p.Leu4633=)
|
rs1057523875
|
|
NM_001035.3(RYR2):c.1389C>T (p.Phe463=)
|
rs781378149
|
|
NM_001035.3(RYR2):c.13901T>A (p.Val4634Glu)
|
|
|
NM_001035.3(RYR2):c.13901T>C (p.Val4634Ala)
|
rs1384324063
|
|
NM_001035.3(RYR2):c.13904T>A (p.Ile4635Asn)
|
rs1060500169
|
|
NM_001035.3(RYR2):c.13904_13906del (p.Ile4635del)
|
|
|
NM_001035.3(RYR2):c.13912C>T (p.Gln4638Ter)
|
|
|
NM_001035.3(RYR2):c.13913+16T>C
|
|
|
NM_001035.3(RYR2):c.13913+19G>A
|
|
|
NM_001035.3(RYR2):c.13913+20A>G
|
|
|
NM_001035.3(RYR2):c.13913+8A>C
|
|
|
NM_001035.3(RYR2):c.13914-11G>C
|
|
|
NM_001035.3(RYR2):c.13914-11G>T
|
|
|
NM_001035.3(RYR2):c.13914-16del
|
|
|
NM_001035.3(RYR2):c.13914-18_13914-17dup
|
|
|
NM_001035.3(RYR2):c.13914-4T>C
|
|
|
NM_001035.3(RYR2):c.13914-8T>C
|
rs1658966034
|
|
NM_001035.3(RYR2):c.1391A>G (p.His464Arg)
|
|
|
NM_001035.3(RYR2):c.13924A>G (p.Asn4642Asp)
|
rs865812612
|
|
NM_001035.3(RYR2):c.13924AAC[1] (p.Asn4643del)
|
|
|
NM_001035.3(RYR2):c.13926C>T (p.Asn4642=)
|
rs2149392499
|
|
NM_001035.3(RYR2):c.13930T>G (p.Tyr4644Asp)
|
rs2149392507
|
|
NM_001035.3(RYR2):c.13933T>C (p.Trp4645Arg)
|
|
|
NM_001035.3(RYR2):c.13937A>C (p.Asp4646Ala)
|
rs1658967336
|
|
NM_001035.3(RYR2):c.13938C>A (p.Asp4646Glu)
|
|
|
NM_001035.3(RYR2):c.13943T>A (p.Phe4648Tyr)
|
|
|
NM_001035.3(RYR2):c.13956+13G>A
|
rs759555189
|
|
NM_001035.3(RYR2):c.13957-7C>T
|
rs1659470496
|
|
NM_001035.3(RYR2):c.1395C>A (p.Pro465=)
|
rs111990043
|
|
NM_001035.3(RYR2):c.1395C>G (p.Pro465=)
|
rs111990043
|
|
NM_001035.3(RYR2):c.1395C>T (p.Pro465=)
|
|
|
NM_001035.3(RYR2):c.13966A>C (p.Lys4656Gln)
|
|
|
NM_001035.3(RYR2):c.13970A>T (p.Tyr4657Phe)
|
|
|
NM_001035.3(RYR2):c.1397C>G (p.Pro466Arg)
|
rs967199869
|
|
NM_001035.3(RYR2):c.1397C>T (p.Pro466Leu)
|
|
|
NM_001035.3(RYR2):c.13984G>C (p.Gly4662Arg)
|
rs886039213
|
|
NM_001035.3(RYR2):c.13985G>T (p.Gly4662Val)
|
|
|
NM_001035.3(RYR2):c.13987C>G (p.Arg4663Gly)
|
|
|
NM_001035.3(RYR2):c.13988G>A (p.Arg4663Gln)
|
|
|
NM_001035.3(RYR2):c.13989A>G (p.Arg4663=)
|
rs2149404155
|
|
NM_001035.3(RYR2):c.13G>A (p.Gly5Ser)
|
|
|
NM_001035.3(RYR2):c.13G>T (p.Gly5Cys)
|
rs2148061465
|
|
NM_001035.3(RYR2):c.14000G>T (p.Ser4667Ile)
|
rs1057523888
|
|
NM_001035.3(RYR2):c.14008C>G (p.Leu4670Val)
|
|
|
NM_001035.3(RYR2):c.14008C>T (p.Leu4670Phe)
|
rs775408548
|
|
NM_001035.3(RYR2):c.14012G>A (p.Gly4671Asp)
|
|
|
NM_001035.3(RYR2):c.14012G>T (p.Gly4671Val)
|
rs1420186189
|
|
NM_001035.3(RYR2):c.14013C>A (p.Gly4671=)
|
rs1416459319
|
|
NM_001035.3(RYR2):c.14014A>G (p.Met4672Val)
|
rs1423265074
|
|
NM_001035.3(RYR2):c.1401T>A (p.Asp467Glu)
|
rs1658569816
|
|
NM_001035.3(RYR2):c.14021A>T (p.Lys4674Met)
|
|
|
NM_001035.3(RYR2):c.14028T>C (p.Ala4676=)
|
|
|
NM_001035.3(RYR2):c.14043T>C (p.Asp4681=)
|
rs1659489574
|
|
NM_001035.3(RYR2):c.14045C>T (p.Ala4682Val)
|
|
|
NM_001035.3(RYR2):c.14048_14049delinsAT (p.Arg4683Asn)
|
rs1558439258
|
|
NM_001035.3(RYR2):c.14053AAG[2] (p.Lys4687del)
|
rs1245102430
|
|
NM_001035.3(RYR2):c.14055G>C (p.Lys4685Asn)
|
|
|
NM_001035.3(RYR2):c.14057A>C (p.Lys4686Thr)
|
rs2149404469
|
|
NM_001035.3(RYR2):c.1405C>G (p.His469Asp)
|
|
|
NM_001035.3(RYR2):c.14064A>C (p.Pro4688=)
|
rs2149404496
|
|
NM_001035.3(RYR2):c.14068A>G (p.Lys4690Glu)
|
rs912687349
|
|
NM_001035.3(RYR2):c.14073C>A (p.Asp4691Glu)
|
|
|
NM_001035.3(RYR2):c.14073C>T (p.Asp4691=)
|
|
|
NM_001035.3(RYR2):c.14074A>G (p.Ser4692Gly)
|
rs1659497202
|
|
NM_001035.3(RYR2):c.14076C>T (p.Ser4692=)
|
|
|
NM_001035.3(RYR2):c.14078C>T (p.Ser4693Phe)
|
|
|
NM_001035.3(RYR2):c.14079C>G (p.Ser4693=)
|
rs1553330741
|
|
NM_001035.3(RYR2):c.14080T>G (p.Leu4694Val)
|
rs2149404631
|
|
NM_001035.3(RYR2):c.14083T>C (p.Ser4695Pro)
|
|
|
NM_001035.3(RYR2):c.14089G>A (p.Val4697Ile)
|
|
|
NM_001035.3(RYR2):c.1408T>G (p.Leu470Val)
|
|
|
NM_001035.3(RYR2):c.14090+11C>T
|
rs2149404729
|
|
NM_001035.3(RYR2):c.14090+16G>A
|
|
|
NM_001035.3(RYR2):c.14090+16dup
|
|
|
NM_001035.3(RYR2):c.14090+17C>T
|
rs1397472913
|
|
NM_001035.3(RYR2):c.14090+1G>T
|
rs770329524
|
|
NM_001035.3(RYR2):c.14090T>C (p.Val4697Ala)
|
|
|
NM_001035.3(RYR2):c.14091-10G>T
|
rs199569629
|
|
NM_001035.3(RYR2):c.14091-18T>A
|
|
|
NM_001035.3(RYR2):c.14091-20T>A
|
|
|
NM_001035.3(RYR2):c.14091-20T>G
|
|
|
NM_001035.3(RYR2):c.14091-20_14091-19insG
|
|
|
NM_001035.3(RYR2):c.14091-4G>A
|
rs1380406964
|
|
NM_001035.3(RYR2):c.14091-5T>G
|
rs1048452537
|
|
NM_001035.3(RYR2):c.14093T>C (p.Leu4698Pro)
|
rs1553332764
|
|
NM_001035.3(RYR2):c.14094G>T (p.Leu4698=)
|
rs2149419480
|
|
NM_001035.3(RYR2):c.14102T>C (p.Ile4701Thr)
|
rs2149419516
|
|
NM_001035.3(RYR2):c.14111A>G (p.Lys4704Arg)
|
|
|
NM_001035.3(RYR2):c.14112G>T (p.Lys4704Asn)
|
|
|
NM_001035.3(RYR2):c.14121G>A (p.Met4707Ile)
|
rs1660018312
|
|
NM_001035.3(RYR2):c.14122T>G (p.Trp4708Gly)
|
rs397516513
|
|
NM_001035.3(RYR2):c.14129T>C (p.Leu4710Pro)
|
rs1574013352
|
|
NM_001035.3(RYR2):c.14131G>A (p.Gly4711Arg)
|
rs1660019000
|
|
NM_001035.3(RYR2):c.14132G>A (p.Gly4711Glu)
|
|
|
NM_001035.3(RYR2):c.14133A>G (p.Gly4711=)
|
rs1487075001
|
|
NM_001035.3(RYR2):c.14136C>A (p.Val4712=)
|
rs756435572
|
|
NM_001035.3(RYR2):c.14136C>T (p.Val4712=)
|
rs756435572
|
|
NM_001035.3(RYR2):c.14137G>A (p.Val4713Ile)
|
|
|
NM_001035.3(RYR2):c.14139T>C (p.Val4713=)
|
rs2149419643
|
|
NM_001035.3(RYR2):c.14145T>C (p.Thr4715=)
|
|
|
NM_001035.3(RYR2):c.14148C>A (p.Asp4716Glu)
|
rs778193795
|
|
NM_001035.3(RYR2):c.14148C>T (p.Asp4716=)
|
|
|
NM_001035.3(RYR2):c.14151+10C>G
|
rs2149419733
|
|
NM_001035.3(RYR2):c.14151+12T>A
|
rs2149419743
|
|
NM_001035.3(RYR2):c.14151+18T>A
|
|
|
NM_001035.3(RYR2):c.14151+4A>G
|
rs2149419707
|
|
NM_001035.3(RYR2):c.14151+6C>T
|
|
|
NM_001035.3(RYR2):c.14151+8T>C
|
|
|
NM_001035.3(RYR2):c.14152-13T>C
|
rs2149437375
|
|
NM_001035.3(RYR2):c.14152-16C>G
|
rs764414769
|
|
NM_001035.3(RYR2):c.14152-16C>T
|
rs764414769
|
|
NM_001035.3(RYR2):c.14152-18C>T
|
|
|
NM_001035.3(RYR2):c.14152-20C>A
|
rs2149437341
|
|
NM_001035.3(RYR2):c.14152-8C>G
|
rs1660611538
|
|
NM_001035.3(RYR2):c.14161T>C (p.Tyr4721His)
|
rs1660612706
|
|
NM_001035.3(RYR2):c.14162A>T (p.Tyr4721Phe)
|
rs1660612939
|
|
NM_001035.3(RYR2):c.14164C>T (p.Leu4722=)
|
rs2149437433
|
|
NM_001035.3(RYR2):c.14169C>T (p.Ala4723=)
|
rs1222318801
|
|
NM_001035.3(RYR2):c.14174A>G (p.Tyr4725Cys)
|
rs2149437479
|
|
NM_001035.3(RYR2):c.14176A>G (p.Met4726Val)
|
rs2149437486
|
|
NM_001035.3(RYR2):c.14181T>A (p.Thr4727=)
|
|
|
NM_001035.3(RYR2):c.14182A>G (p.Met4728Val)
|
rs562116040
|
|
NM_001035.3(RYR2):c.14184G>A (p.Met4728Ile)
|
|
|
NM_001035.3(RYR2):c.14196A>T (p.Gly4732=)
|
rs2149437535
|
|
NM_001035.3(RYR2):c.14198A>G (p.His4733Arg)
|
|
|
NM_001035.3(RYR2):c.14199C>T (p.His4733=)
|
|
|
NM_001035.3(RYR2):c.14201A>G (p.Tyr4734Cys)
|
rs1660616083
|
|
NM_001035.3(RYR2):c.14204A>T (p.Asn4735Ile)
|
|
|
NM_001035.3(RYR2):c.14217dup (p.Ala4740fs)
|
rs749201569
|
|
NM_001035.3(RYR2):c.14221G>A (p.Ala4741Thr)
|
rs2149437588
|
|
NM_001035.3(RYR2):c.14222C>T (p.Ala4741Val)
|
rs2149437594
|
|
NM_001035.3(RYR2):c.14224C>T (p.His4742Tyr)
|
rs1358033974
|
|
NM_001035.3(RYR2):c.14226C>A (p.His4742Gln)
|
rs2149437622
|
|
NM_001035.3(RYR2):c.14232C>T (p.Leu4744=)
|
rs777371415
|
|
NM_001035.3(RYR2):c.14233G>A (p.Asp4745Asn)
|
rs1660618055
|
|
NM_001035.3(RYR2):c.14234A>G (p.Asp4745Gly)
|
rs2149437640
|
|
NM_001035.3(RYR2):c.14238_14243del (p.Ile4746_Ala4747del)
|
rs1660618834
|
|
NM_001035.3(RYR2):c.14241T>C (p.Ala4747=)
|
rs769753371
|
|
NM_001035.3(RYR2):c.14246G>T (p.Gly4749Val)
|
rs1558457775
|
|
NM_001035.3(RYR2):c.14250C>T (p.Phe4750=)
|
|
|
NM_001035.3(RYR2):c.14251A>G (p.Lys4751Glu)
|
rs794728802
|
|
NM_001035.3(RYR2):c.14252A>T (p.Lys4751Met)
|
rs2149437719
|
|
NM_001035.3(RYR2):c.14259A>C (p.Leu4753Phe)
|
|
|
NM_001035.3(RYR2):c.14259A>G (p.Leu4753=)
|
rs1660620758
|
|
NM_001035.3(RYR2):c.14264C>A (p.Thr4755Asn)
|
rs1553334770
|
|
NM_001035.3(RYR2):c.14264C>T (p.Thr4755Ile)
|
rs1553334770
|
|
NM_001035.3(RYR2):c.14265C>G (p.Thr4755=)
|
rs2149437750
|
|
NM_001035.3(RYR2):c.14265C>T (p.Thr4755=)
|
rs2149437750
|
|
NM_001035.3(RYR2):c.14271G>A (p.Leu4757=)
|
rs2149437767
|
|
NM_001035.3(RYR2):c.14274C>T (p.Ser4758=)
|
rs2149437784
|
|
NM_001035.3(RYR2):c.14278G>A (p.Val4760Ile)
|
rs794728831
|
|
NM_001035.3(RYR2):c.14284C>T (p.His4762Tyr)
|
|
|
NM_001035.3(RYR2):c.14288A>G (p.Asn4763Ser)
|
rs794728803
|
|
NM_001035.3(RYR2):c.14289T>C (p.Asn4763=)
|
|
|
NM_001035.3(RYR2):c.1428G>T (p.Gln476His)
|
rs1281984170
|
|
NM_001035.3(RYR2):c.14292C>G (p.Gly4764=)
|
rs1660622870
|
|
NM_001035.3(RYR2):c.14298+10T>G
|
rs377240284
|
|
NM_001035.3(RYR2):c.14298+13T>C
|
|
|
NM_001035.3(RYR2):c.14298+14C>A
|
|
|
NM_001035.3(RYR2):c.14298+18T>G
|
|
|
NM_001035.3(RYR2):c.14298+19T>A
|
|
|
NM_001035.3(RYR2):c.14298+20C>G
|
|
|
NM_001035.3(RYR2):c.14298+9T>C
|
|
|
NM_001035.3(RYR2):c.14299-3C>T
|
rs2149446318
|
|
NM_001035.3(RYR2):c.14299-9G>A
|
rs1660957267
|
|
NM_001035.3(RYR2):c.14310C>G (p.Thr4770=)
|
|
|
NM_001035.3(RYR2):c.14311G>A (p.Val4771Ile)
|
rs794728804
|
|
NM_001035.3(RYR2):c.14311G>T (p.Val4771Phe)
|
|
|
NM_001035.3(RYR2):c.14316C>T (p.Gly4772=)
|
rs2149446388
|
|
NM_001035.3(RYR2):c.14319A>G (p.Leu4773=)
|
|
|
NM_001035.3(RYR2):c.1431C>T (p.Asn477=)
|
rs1225809471
|
|
NM_001035.3(RYR2):c.14327T>C (p.Val4776Ala)
|
|
|
NM_001035.3(RYR2):c.14332G>A (p.Val4778Ile)
|
rs1060500151
|
|
NM_001035.3(RYR2):c.14332G>T (p.Val4778Leu)
|
rs1060500151
|
|
NM_001035.3(RYR2):c.14338C>G (p.Leu4780Val)
|
|
|
NM_001035.3(RYR2):c.14338C>T (p.Leu4780=)
|
rs764103963
|
|
NM_001035.3(RYR2):c.14342A>G (p.Tyr4781Cys)
|
rs2149446480
|
|
NM_001035.3(RYR2):c.14346T>C (p.Thr4782=)
|
rs1660962830
|
|
NM_001035.3(RYR2):c.14347G>T (p.Val4783Leu)
|
rs2149446503
|
|
NM_001035.3(RYR2):c.14352G>A (p.Val4784=)
|
|
|
NM_001035.3(RYR2):c.14368C>T (p.Arg4790Ter)
|
rs1660964820
|
|
NM_001035.3(RYR2):c.14369G>T (p.Arg4790Leu)
|
|
|
NM_001035.3(RYR2):c.14372A>C (p.Lys4791Thr)
|
|
|
NM_001035.3(RYR2):c.14372A>T (p.Lys4791Ile)
|
rs1057524525
|
|
NM_001035.3(RYR2):c.14383A>G (p.Lys4795Glu)
|
rs1558462911
|
|
NM_001035.3(RYR2):c.14388T>C (p.Ser4796=)
|
rs2149446615
|
|
NM_001035.3(RYR2):c.14403_14404del (p.Pro4802fs)
|
|
|
NM_001035.3(RYR2):c.14405C>T (p.Pro4802Leu)
|
rs1660968129
|
|
NM_001035.3(RYR2):c.14433+13C>A
|
|
|
NM_001035.3(RYR2):c.14433+5G>A
|
|
|
NM_001035.3(RYR2):c.14434-15A>C
|
|
|
NM_001035.3(RYR2):c.14434-15A>G
|
|
|
NM_001035.3(RYR2):c.14434-15A>T
|
rs1414554358
|
|
NM_001035.3(RYR2):c.14434-17C>G
|
|
|
NM_001035.3(RYR2):c.14434-19T>C
|
|
|
NM_001035.3(RYR2):c.14434-5T>C
|
rs2102824382
|
|
NM_001035.3(RYR2):c.14437T>C (p.Tyr4813His)
|
|
|
NM_001035.3(RYR2):c.14439T>C (p.Tyr4813=)
|
rs2102824544
|
|
NM_001035.3(RYR2):c.14450T>G (p.Met4817Arg)
|
|
|
NM_001035.3(RYR2):c.14464C>T (p.Arg4822Cys)
|
|
|
NM_001035.3(RYR2):c.14465G>A (p.Arg4822His)
|
rs794728805
|
|
NM_001035.3(RYR2):c.14465G>T (p.Arg4822Leu)
|
|
|
NM_001035.3(RYR2):c.14473G>A (p.Gly4825Arg)
|
|
|
NM_001035.3(RYR2):c.14475A>T (p.Gly4825=)
|
|
|
NM_001035.3(RYR2):c.14477G>A (p.Gly4826Glu)
|
rs1662149581
|
|
NM_001035.3(RYR2):c.14479A>G (p.Ile4827Val)
|
|
|
NM_001035.3(RYR2):c.14481C>A (p.Ile4827=)
|
rs114303476
|
|
NM_001035.3(RYR2):c.14481C>T (p.Ile4827=)
|
rs114303476
|
|
NM_001035.3(RYR2):c.14482G>A (p.Gly4828Arg)
|
rs1402571360
|
|
NM_001035.3(RYR2):c.14493C>A (p.Ile4831=)
|
|
|
NM_001035.3(RYR2):c.14494G>A (p.Glu4832Lys)
|
rs1443988544
|
|
NM_001035.3(RYR2):c.14511T>C (p.Asp4837=)
|
rs2102825210
|
|
NM_001035.3(RYR2):c.14517T>C (p.Tyr4839=)
|
rs2102825273
|
|
NM_001035.3(RYR2):c.14522T>C (p.Ile4841Thr)
|
|
|
NM_001035.3(RYR2):c.14527C>A (p.Arg4843=)
|
rs1553339074
|
|
NM_001035.3(RYR2):c.14527C>G (p.Arg4843Gly)
|
|
|
NM_001035.3(RYR2):c.14529A>C (p.Arg4843=)
|
|
|
NM_001035.3(RYR2):c.1452T>A (p.Asn484Lys)
|
rs1195833247
|
|
NM_001035.3(RYR2):c.1453C>T (p.Arg485Trp)
|
rs766420655
|
|
NM_001035.3(RYR2):c.14542A>G (p.Ile4848Val)
|
rs1363298408
|
|
NM_001035.3(RYR2):c.14546C>T (p.Thr4849Ile)
|
rs2102825501
|
|
NM_001035.3(RYR2):c.14550CTT[2] (p.Phe4853del)
|
|
|
NM_001035.3(RYR2):c.14553C>A (p.Phe4851Leu)
|
rs1291829047
|
|
NM_001035.3(RYR2):c.14553C>T (p.Phe4851=)
|
|
|
NM_001035.3(RYR2):c.14556_14559del (p.Phe4852fs)
|
rs2102825624
|
|
NM_001035.3(RYR2):c.1455G>A (p.Arg485=)
|
rs2150218150
|
|
NM_001035.3(RYR2):c.14563A>G (p.Ile4855Val)
|
|
|
NM_001035.3(RYR2):c.14564T>C (p.Ile4855Thr)
|
rs2102825699
|
|
NM_001035.3(RYR2):c.14569A>G (p.Ile4857Val)
|
rs1085307524
|
|
NM_001035.3(RYR2):c.14577G>A (p.Leu4859=)
|
rs1662156109
|
|
NM_001035.3(RYR2):c.14579C>G (p.Ala4860Gly)
|
rs121918606
|
|
NM_001035.3(RYR2):c.14585T>C (p.Ile4862Thr)
|
rs1553339084
|
|
NM_001035.3(RYR2):c.14586A>G (p.Ile4862Met)
|
rs1558481148
|
|
NM_001035.3(RYR2):c.14590+13_14590+15del
|
|
|
NM_001035.3(RYR2):c.14590+15C>T
|
rs2102826245
|
|
NM_001035.3(RYR2):c.14590+19G>A
|
|
|
NM_001035.3(RYR2):c.14590+3A>G
|
rs756787746
|
|
NM_001035.3(RYR2):c.14590+4A>G
|
|
|
NM_001035.3(RYR2):c.14590+6T>C
|
|
|
NM_001035.3(RYR2):c.14590+7A>C
|
rs1553339087
|
|
NM_001035.3(RYR2):c.14590+7A>G
|
rs1553339087
|
|
NM_001035.3(RYR2):c.14590G>T (p.Gly4864Cys)
|
rs1553339086
|
|
NM_001035.3(RYR2):c.14591-11_14591-8del
|
|
|
NM_001035.3(RYR2):c.14591-13T>G
|
rs1663397019
|
|
NM_001035.3(RYR2):c.14591-16T>G
|
|
|
NM_001035.3(RYR2):c.14591-20G>A
|
|
|
NM_001035.3(RYR2):c.14591-5A>G
|
rs1663397881
|
|
NM_001035.3(RYR2):c.14591-9del
|
rs876657987
|
|
NM_001035.3(RYR2):c.14592T>C (p.Gly4864=)
|
rs774554572
|
|
NM_001035.3(RYR2):c.14592T>G (p.Gly4864=)
|
rs774554572
|
|
NM_001035.3(RYR2):c.14595A>G (p.Leu4865=)
|
|
|
NM_001035.3(RYR2):c.14599A>G (p.Ile4867Val)
|
rs2102926200
|
|
NM_001035.3(RYR2):c.14602G>A (p.Asp4868Asn)
|
rs1663399787
|
|
NM_001035.3(RYR2):c.14602G>T (p.Asp4868Tyr)
|
rs1663399787
|
|
NM_001035.3(RYR2):c.14604T>A (p.Asp4868Glu)
|
|
|
NM_001035.3(RYR2):c.14604T>G (p.Asp4868Glu)
|
|
|
NM_001035.3(RYR2):c.14609T>C (p.Phe4870Ser)
|
|
|
NM_001035.3(RYR2):c.14617C>T (p.Leu4873=)
|
rs1663400290
|
|
NM_001035.3(RYR2):c.14634A>G (p.Glu4878=)
|
|
|
NM_001035.3(RYR2):c.14637A>G (p.Gln4879=)
|
rs1553341953
|
|
NM_001035.3(RYR2):c.14638G>A (p.Val4880Ile)
|
rs2102926494
|
|
NM_001035.3(RYR2):c.14647G>T (p.Asp4883Tyr)
|
rs868808156
|
|
NM_001035.3(RYR2):c.14651T>C (p.Met4884Thr)
|
|
|
NM_001035.3(RYR2):c.14651T>G (p.Met4884Arg)
|
rs2102926629
|
|
NM_001035.3(RYR2):c.14651_14652insTCC (p.Met4884delinsIlePro)
|
rs1663402590
|
|
NM_001035.3(RYR2):c.14655+13A>G
|
|
|
NM_001035.3(RYR2):c.14655+19G>A
|
|
|
NM_001035.3(RYR2):c.14655+7T>C
|
|
|
NM_001035.3(RYR2):c.14656-13C>A
|
rs1663654908
|
|
NM_001035.3(RYR2):c.14656-14C>G
|
|
|
NM_001035.3(RYR2):c.14656-19A>G
|
|
|
NM_001035.3(RYR2):c.14656-4C>G
|
|
|
NM_001035.3(RYR2):c.14656-6T>C
|
rs2102946547
|
|
NM_001035.3(RYR2):c.14656A>G (p.Thr4886Ala)
|
|
|
NM_001035.3(RYR2):c.14661A>G (p.Lys4887=)
|
|
|
NM_001035.3(RYR2):c.14668A>G (p.Ile4890Val)
|
|
|
NM_001035.3(RYR2):c.14674G>A (p.Gly4892Arg)
|
|
|
NM_001035.3(RYR2):c.14676G>A (p.Gly4892=)
|
|
|
NM_001035.3(RYR2):c.14679A>G (p.Ile4893Met)
|
|
|
NM_001035.3(RYR2):c.14683A>C (p.Asn4895His)
|
rs1185619003
|
|
NM_001035.3(RYR2):c.14685T>C (p.Asn4895=)
|
rs2102946919
|
|
NM_001035.3(RYR2):c.14692T>G (p.Phe4898Val)
|
|
|
NM_001035.3(RYR2):c.14695G>A (p.Asp4899Asn)
|
rs794728807
|
|
NM_001035.3(RYR2):c.14700A>C (p.Thr4900=)
|
|
|
NM_001035.3(RYR2):c.14701G>A (p.Val4901Met)
|
rs2102947130
|
|
NM_001035.3(RYR2):c.14703G>A (p.Val4901=)
|
|
|
NM_001035.3(RYR2):c.14709T>A (p.His4903Gln)
|
|
|
NM_001035.3(RYR2):c.1470G>A (p.Gln490=)
|
rs752945105
|
|
NM_001035.3(RYR2):c.14710G>A (p.Gly4904Ser)
|
rs2102947297
|
|
NM_001035.3(RYR2):c.14718A>C (p.Glu4906Asp)
|
rs1553342497
|
|
NM_001035.3(RYR2):c.1471G>A (p.Glu491Lys)
|
rs1658580412
|
|
NM_001035.3(RYR2):c.14724C>T (p.His4908=)
|
|
|
NM_001035.3(RYR2):c.14727T>A (p.Thr4909=)
|
rs1663663783
|
|
NM_001035.3(RYR2):c.14730A>G (p.Leu4910=)
|
rs1553342510
|
|
NM_001035.3(RYR2):c.14736G>A (p.Glu4912=)
|
|
|
NM_001035.3(RYR2):c.14739C>T (p.His4913=)
|
rs767291905
|
|
NM_001035.3(RYR2):c.14741A>C (p.Asn4914Thr)
|
|
|
NM_001035.3(RYR2):c.14746G>A (p.Ala4916Thr)
|
rs1663665510
|
|
NM_001035.3(RYR2):c.14751T>A (p.Asn4917Lys)
|
|
|
NM_001035.3(RYR2):c.14756+12C>A
|
rs2275693
|
|
NM_001035.3(RYR2):c.14756+13G>A
|
|
|
NM_001035.3(RYR2):c.14756+14T>C
|
|
|
NM_001035.3(RYR2):c.14756+3G>A
|
rs1057523295
|
|
NM_001035.3(RYR2):c.14756+7G>T
|
|
|
NM_001035.3(RYR2):c.14756+8T>A
|
rs2102947779
|
|
NM_001035.3(RYR2):c.14757-10G>A
|
rs1483183617
|
|
NM_001035.3(RYR2):c.14757-10G>T
|
|
|
NM_001035.3(RYR2):c.14757-14C>G
|
|
|
NM_001035.3(RYR2):c.14757-18G>A
|
rs375553165
|
|
NM_001035.3(RYR2):c.14757-20C>G
|
|
|
NM_001035.3(RYR2):c.14757-7_14757-6delinsAT
|
rs727504630
|
|
NM_001035.3(RYR2):c.14757-8A>G
|
|
|
NM_001035.3(RYR2):c.1476+18C>G
|
|
|
NM_001035.3(RYR2):c.1476+20C>T
|
|
|
NM_001035.3(RYR2):c.1476+4C>A
|
rs369442980
|
|
NM_001035.3(RYR2):c.1477-13T>G
|
|
|
NM_001035.3(RYR2):c.1477-15_1477-14insC
|
|
|
NM_001035.3(RYR2):c.1477-7G>T
|
rs763127313
|
|
NM_001035.3(RYR2):c.14773C>G (p.Leu4925Val)
|
|
|
NM_001035.3(RYR2):c.14777T>C (p.Ile4926Thr)
|
rs1663793007
|
|
NM_001035.3(RYR2):c.14778A>C (p.Ile4926=)
|
|
|
NM_001035.3(RYR2):c.14807A>G (p.Gln4936Arg)
|
|
|
NM_001035.3(RYR2):c.14808+11T>C
|
|
|
NM_001035.3(RYR2):c.14808+17A>G
|
|
|
NM_001035.3(RYR2):c.14809-14C>T
|
|
|
NM_001035.3(RYR2):c.14809-14del
|
|
|
NM_001035.3(RYR2):c.14809-16del
|
rs769123824
|
|
NM_001035.3(RYR2):c.14809-1G>A
|
rs2102967720
|
|
NM_001035.3(RYR2):c.14809-4G>A
|
rs1574134275
|
|
NM_001035.3(RYR2):c.14809-7T>G
|
rs1574134250
|
|
NM_001035.3(RYR2):c.14809G>C (p.Glu4937Gln)
|
|
|
NM_001035.3(RYR2):c.1480A>G (p.Met494Val)
|
|
|
NM_001035.3(RYR2):c.14813C>T (p.Ser4938Phe)
|
rs2102967780
|
|
NM_001035.3(RYR2):c.1483A>T (p.Ile495Phe)
|
|
|
NM_001035.3(RYR2):c.14843G>A (p.Cys4948Tyr)
|
rs2102968070
|
|
NM_001035.3(RYR2):c.14845T>C (p.Trp4949Arg)
|
rs794728810
|
|
NM_001035.3(RYR2):c.14848G>C (p.Glu4950Gln)
|
rs886039172
|
|
NM_001035.3(RYR2):c.14868_14878del (p.Asp4956fs)
|
|
|
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln)
|
rs794728811
|
|
NM_001035.3(RYR2):c.14881C>G (p.Gln4961Glu)
|
|
|
NM_001035.3(RYR2):c.14881C>T (p.Gln4961Ter)
|
rs1574134528
|
|
NM_001035.3(RYR2):c.14885A>G (p.Tyr4962Cys)
|
rs794728832
|
|
NM_001035.3(RYR2):c.14887G>A (p.Glu4963Lys)
|
|
|
NM_001035.3(RYR2):c.14893C>G (p.Gln4965Glu)
|
rs1663933692
|
|
NM_001035.3(RYR2):c.14895G>A (p.Gln4965=)
|
rs770551852
|
|
NM_001035.3(RYR2):c.14897T>C (p.Leu4966Pro)
|
|
|
NM_001035.3(RYR2):c.14898A>T (p.Leu4966=)
|
|
|
NM_001035.3(RYR2):c.14904_*1dup (p.Ter4968=)
|
rs777179393
|
|
NM_001035.3(RYR2):c.14G>A (p.Gly5Asp)
|
rs1660034518
|
|
NM_001035.3(RYR2):c.1501T>G (p.Cys501Gly)
|
rs969500202
|
|
NM_001035.3(RYR2):c.1502G>A (p.Cys501Tyr)
|
rs1558850485
|
|
NM_001035.3(RYR2):c.1503C>T (p.Cys501=)
|
rs1451394775
|
|
NM_001035.3(RYR2):c.1510C>T (p.Arg504Cys)
|
rs373502556
|
|
NM_001035.3(RYR2):c.1517A>C (p.His506Pro)
|
|
|
NM_001035.3(RYR2):c.1537del (p.His513fs)
|
|
|
NM_001035.3(RYR2):c.1539C>T (p.His513=)
|
rs1303496576
|
|
NM_001035.3(RYR2):c.1554T>C (p.Ala518=)
|
rs2150229564
|
|
NM_001035.3(RYR2):c.1556G>C (p.Gly519Ala)
|
rs1658861680
|
|
NM_001035.3(RYR2):c.1558C>A (p.Arg520=)
|
rs749567039
|
|
NM_001035.3(RYR2):c.1565_1567del (p.Ala522del)
|
rs1658864172
|
|
NM_001035.3(RYR2):c.1566A>T (p.Ala522=)
|
rs1658864720
|
|
NM_001035.3(RYR2):c.156T>C (p.Thr52=)
|
|
|
NM_001035.3(RYR2):c.157T>G (p.Ser53Ala)
|
|
|
NM_001035.3(RYR2):c.1581A>G (p.Lys527=)
|
|
|
NM_001035.3(RYR2):c.1583C>T (p.Ser528Phe)
|
rs867134734
|
|
NM_001035.3(RYR2):c.1594T>C (p.Ser532Pro)
|
|
|
NM_001035.3(RYR2):c.1596T>C (p.Ser532=)
|
rs796950414
|
|
NM_001035.3(RYR2):c.1597_1602del (p.Leu533_Tyr534del)
|
|
|
NM_001035.3(RYR2):c.1599G>A (p.Leu533=)
|
|
|
NM_001035.3(RYR2):c.1601A>G (p.Tyr534Cys)
|
rs1572409976
|
|
NM_001035.3(RYR2):c.1604A>G (p.Glu535Gly)
|
rs869025509
|
|
NM_001035.3(RYR2):c.1605G>A (p.Glu535=)
|
rs2150229955
|
|
NM_001035.3(RYR2):c.1612+10A>G
|
rs886046262
|
|
NM_001035.3(RYR2):c.1612+13A>T
|
|
|
NM_001035.3(RYR2):c.1612+13_1612+14delinsGC
|
rs1064795529
|
|
NM_001035.3(RYR2):c.1612+18G>T
|
|
|
NM_001035.3(RYR2):c.1612+8G>C
|
rs375122829
|
|
NM_001035.3(RYR2):c.1612+9C>T
|
|
|
NM_001035.3(RYR2):c.1613-16A>G
|
|
|
NM_001035.3(RYR2):c.1613-18C>G
|
|
|
NM_001035.3(RYR2):c.1613-20A>G
|
|
|
NM_001035.3(RYR2):c.1613-4G>C
|
rs1553462847
|
|
NM_001035.3(RYR2):c.1613-9C>G
|
|
|
NM_001035.3(RYR2):c.1615G>A (p.Ala539Thr)
|
rs2150301097
|
|
NM_001035.3(RYR2):c.1618C>A (p.Leu540Ile)
|
|
|
NM_001035.3(RYR2):c.161A>G (p.Asn54Ser)
|
|
|
NM_001035.3(RYR2):c.1631A>G (p.Asn544Ser)
|
|
|
NM_001035.3(RYR2):c.1633C>G (p.Arg545Gly)
|
rs1660399641
|
|
NM_001035.3(RYR2):c.1633C>T (p.Arg545Cys)
|
|
|
NM_001035.3(RYR2):c.1634G>A (p.Arg545His)
|
|
|
NM_001035.3(RYR2):c.1637A>G (p.Lys546Arg)
|
rs1660400133
|
|
NM_001035.3(RYR2):c.1639A>C (p.Asn547His)
|
|
|
NM_001035.3(RYR2):c.1641C>A (p.Asn547Lys)
|
rs794728722
|
|
NM_001035.3(RYR2):c.1641C>T (p.Asn547=)
|
|
|
NM_001035.3(RYR2):c.1643G>A (p.Cys548Tyr)
|
rs1660401182
|
|
NM_001035.3(RYR2):c.1644T>C (p.Cys548=)
|
|
|
NM_001035.3(RYR2):c.1647T>C (p.Ala549=)
|
rs1553462870
|
|
NM_001035.3(RYR2):c.1655C>T (p.Ser552Phe)
|
rs1660402614
|
|
NM_001035.3(RYR2):c.1656T>C (p.Ser552=)
|
rs780295728
|
|
NM_001035.3(RYR2):c.1659C>T (p.Gly553=)
|
rs2150301358
|
|
NM_001035.3(RYR2):c.1661C>A (p.Ser554Tyr)
|
|
|
NM_001035.3(RYR2):c.1665C>G (p.Leu555=)
|
rs371262363
|
|
NM_001035.3(RYR2):c.1666G>A (p.Asp556Asn)
|
|
|
NM_001035.3(RYR2):c.1668C>T (p.Asp556=)
|
rs1572463046
|
|
NM_001035.3(RYR2):c.166A>C (p.Lys56Gln)
|
|
|
NM_001035.3(RYR2):c.1672T>C (p.Leu558=)
|
|
|
NM_001035.3(RYR2):c.1677C>G (p.Ile559Met)
|
|
|
NM_001035.3(RYR2):c.1678A>G (p.Ser560Gly)
|
rs759121593
|
|
NM_001035.3(RYR2):c.168+11G>A
|
|
|
NM_001035.3(RYR2):c.168+14T>G
|
|
|
NM_001035.3(RYR2):c.168+17C>G
|
|
|
NM_001035.3(RYR2):c.168+4G>A
|
rs1689584784
|
|
NM_001035.3(RYR2):c.1686G>A (p.Leu562=)
|
|
|
NM_001035.3(RYR2):c.169-15C>G
|
|
|
NM_001035.3(RYR2):c.169-19T>C
|
|
|
NM_001035.3(RYR2):c.169-8C>T
|
|
|
NM_001035.3(RYR2):c.1708+11T>C
|
|
|
NM_001035.3(RYR2):c.1709-12T>C
|
|
|
NM_001035.3(RYR2):c.1709-17_1709-14del
|
rs1064794455
|
|
NM_001035.3(RYR2):c.1709-18T>G
|
|
|
NM_001035.3(RYR2):c.1709-8A>G
|
|
|
NM_001035.3(RYR2):c.1712T>A (p.Ile571Asn)
|
rs886046263
|
|
NM_001035.3(RYR2):c.1719del (p.Val574fs)
|
|
|
NM_001035.3(RYR2):c.1723T>C (p.Leu575=)
|
rs2150412869
|
|
NM_001035.3(RYR2):c.1727A>G (p.His576Arg)
|
rs794728818
|
|
NM_001035.3(RYR2):c.1734T>G (p.Val578=)
|
|
|
NM_001035.3(RYR2):c.1738G>T (p.Val580Leu)
|
rs1572569244
|
|
NM_001035.3(RYR2):c.174G>A (p.Val58=)
|
|
|
NM_001035.3(RYR2):c.1758A>G (p.Leu586=)
|
rs1260289435
|
|
NM_001035.3(RYR2):c.1764T>G (p.Ile588Met)
|
|
|
NM_001035.3(RYR2):c.1770A>G (p.Lys590=)
|
rs2150412988
|
|
NM_001035.3(RYR2):c.1771G>C (p.Glu591Gln)
|
|
|
NM_001035.3(RYR2):c.1772A>G (p.Glu591Gly)
|
|
|
NM_001035.3(RYR2):c.177C>G (p.Pro59=)
|
rs1274699222
|
|
NM_001035.3(RYR2):c.1781T>C (p.Ile594Thr)
|
|
|
NM_001035.3(RYR2):c.1784A>G (p.Lys595Arg)
|
rs1370136013
|
|
NM_001035.3(RYR2):c.1789A>T (p.Ile597Phe)
|
|
|
NM_001035.3(RYR2):c.178C>T (p.Pro60Ser)
|
rs1696641342
|
|
NM_001035.3(RYR2):c.1792A>G (p.Ile598Val)
|
|
|
NM_001035.3(RYR2):c.1798C>G (p.Leu600Val)
|
|
|
NM_001035.3(RYR2):c.1799T>A (p.Leu600His)
|
|
|
NM_001035.3(RYR2):c.1803del (p.Asp602fs)
|
rs2150413242
|
|
NM_001035.3(RYR2):c.1814G>T (p.Gly605Val)
|
|
|
NM_001035.3(RYR2):c.1824C>T (p.His608=)
|
rs2150413338
|
|
NM_001035.3(RYR2):c.1827+11T>C
|
|
|
NM_001035.3(RYR2):c.1827+4_1827+5inv
|
|
|
NM_001035.3(RYR2):c.1827+9_1827+12del
|
rs2150413372
|
|
NM_001035.3(RYR2):c.1828-12T>A
|
|
|
NM_001035.3(RYR2):c.1828-12T>G
|
rs1663578215
|
|
NM_001035.3(RYR2):c.1828-16T>A
|
|
|
NM_001035.3(RYR2):c.1828-17G>A
|
|
|
NM_001035.3(RYR2):c.1828-19A>G
|
|
|
NM_001035.3(RYR2):c.1828-3C>A
|
|
|
NM_001035.3(RYR2):c.1828-8C>G
|
|
|
NM_001035.3(RYR2):c.1832T>C (p.Leu611Pro)
|
rs794728726
|
|
NM_001035.3(RYR2):c.1837G>A (p.Val613Ile)
|
rs397516520
|
|
NM_001035.3(RYR2):c.1839C>A (p.Val613=)
|
|
|
NM_001035.3(RYR2):c.1842G>T (p.Leu614Phe)
|
rs1227994309
|
|
NM_001035.3(RYR2):c.1844G>T (p.Cys615Phe)
|
rs748190200
|
|
NM_001035.3(RYR2):c.1847C>T (p.Ser616Leu)
|
rs730880187
|
|
NM_001035.3(RYR2):c.1848A>C (p.Ser616=)
|
|
|
NM_001035.3(RYR2):c.184C>T (p.Leu62Phe)
|
rs794728813
|
|
NM_001035.3(RYR2):c.1851C>T (p.Leu617=)
|
|
|
NM_001035.3(RYR2):c.1867G>C (p.Val623Leu)
|
|
|
NM_001035.3(RYR2):c.1870G>A (p.Ala624Thr)
|
rs1663584680
|
|
NM_001035.3(RYR2):c.1871C>T (p.Ala624Val)
|
rs878854153
|
|
NM_001035.3(RYR2):c.1876C>T (p.Arg626Cys)
|
|
|
NM_001035.3(RYR2):c.1877G>A (p.Arg626His)
|
|
|
NM_001035.3(RYR2):c.1880C>G (p.Ser627Cys)
|
|
|
NM_001035.3(RYR2):c.1884C>T (p.Asn628=)
|
|
|
NM_001035.3(RYR2):c.1888C>A (p.His630Asn)
|
rs1195734687
|
|
NM_001035.3(RYR2):c.1888C>T (p.His630Tyr)
|
|
|
NM_001035.3(RYR2):c.1894A>G (p.Ile632Val)
|
|
|
NM_001035.3(RYR2):c.1906C>A (p.Leu636Ile)
|
rs2150421908
|
|
NM_001035.3(RYR2):c.1908C>G (p.Leu636=)
|
|
|
NM_001035.3(RYR2):c.1918A>G (p.Arg640Gly)
|
rs886041109
|
|
NM_001035.3(RYR2):c.191T>G (p.Ile64Ser)
|
rs2149567963
|
|
NM_001035.3(RYR2):c.1921G>A (p.Asp641Asn)
|
|
|
NM_001035.3(RYR2):c.192C>T (p.Ile64=)
|
|
|
NM_001035.3(RYR2):c.1941del (p.Leu648_Val649insTer)
|
|
|
NM_001035.3(RYR2):c.1944T>C (p.Leu648=)
|
|
|
NM_001035.3(RYR2):c.1946T>C (p.Val649Ala)
|
|
|
NM_001035.3(RYR2):c.1947G>A (p.Val649=)
|
rs1663593634
|
|
NM_001035.3(RYR2):c.1949A>G (p.Asn650Ser)
|
|
|
NM_001035.3(RYR2):c.1953T>C (p.His651=)
|
rs1663595328
|
|
NM_001035.3(RYR2):c.195C>T (p.Cys65=)
|
|
|
NM_001035.3(RYR2):c.1961+14G>A
|
|
|
NM_001035.3(RYR2):c.1961+15A>G
|
|
|
NM_001035.3(RYR2):c.1961+16C>T
|
rs756259197
|
|
NM_001035.3(RYR2):c.1961+18A>G
|
|
|
NM_001035.3(RYR2):c.1962-12G>T
|
|
|
NM_001035.3(RYR2):c.1962-7T>C
|
|
|
NM_001035.3(RYR2):c.1962C>T (p.Ser654=)
|
rs1664091413
|
|
NM_001035.3(RYR2):c.1968A>G (p.Arg656=)
|
|
|
NM_001035.3(RYR2):c.1974T>C (p.Asn658=)
|
|
|
NM_001035.3(RYR2):c.1988T>C (p.Val663Ala)
|
rs372837858
|
|
NM_001035.3(RYR2):c.1991G>C (p.Ser664Thr)
|
|
|
NM_001035.3(RYR2):c.19G>A (p.Gly7Ser)
|
rs779910353
|
|
NM_001035.3(RYR2):c.2000C>G (p.Ser667Cys)
|
|
|
NM_001035.3(RYR2):c.2005C>T (p.Gln669Ter)
|
|
|
NM_001035.3(RYR2):c.2009A>G (p.Tyr670Cys)
|
rs571828296
|
|
NM_001035.3(RYR2):c.2010_2011del (p.Tyr670_Lys671delinsTer)
|
rs1664096446
|
|
NM_001035.3(RYR2):c.2011A>G (p.Lys671Glu)
|
rs1664097353
|
|
NM_001035.3(RYR2):c.2013G>A (p.Lys671=)
|
rs1192622030
|
|
NM_001035.3(RYR2):c.2016A>G (p.Lys672=)
|
|
|
NM_001035.3(RYR2):c.2017T>C (p.Trp673Arg)
|
|
|
NM_001035.3(RYR2):c.2024A>G (p.Tyr675Cys)
|
|
|
NM_001035.3(RYR2):c.2028A>G (p.Glu676=)
|
|
|
NM_001035.3(RYR2):c.202G>C (p.Val68Leu)
|
|
|
NM_001035.3(RYR2):c.2042A>G (p.His681Arg)
|
rs1344581490
|
|
NM_001035.3(RYR2):c.2046A>T (p.Thr682=)
|
rs116098815
|
|
NM_001035.3(RYR2):c.2056G>A (p.Val686Met)
|
rs1060500139
|
|
NM_001035.3(RYR2):c.2057T>G (p.Val686Gly)
|
rs1664102967
|
|
NM_001035.3(RYR2):c.2058G>C (p.Val686=)
|
|
|
NM_001035.3(RYR2):c.205C>T (p.Leu69=)
|
|
|
NM_001035.3(RYR2):c.2068G>A (p.Ala690Thr)
|
rs2150448340
|
|
NM_001035.3(RYR2):c.2076C>T (p.His692=)
|
rs1282880190
|
|
NM_001035.3(RYR2):c.2080C>G (p.Arg694Gly)
|
|
|
NM_001035.3(RYR2):c.2080C>T (p.Arg694Ter)
|
|
|
NM_001035.3(RYR2):c.2094T>C (p.Ala698=)
|
rs1572596285
|
|
NM_001035.3(RYR2):c.2097C>T (p.Ser699=)
|
rs2150448554
|
|
NM_001035.3(RYR2):c.2109T>C (p.Tyr703=)
|
|
|
NM_001035.3(RYR2):c.210G>A (p.Glu70=)
|
|
|
NM_001035.3(RYR2):c.2113C>G (p.Pro705Ala)
|
|
|
NM_001035.3(RYR2):c.2116T>C (p.Tyr706His)
|
|
|
NM_001035.3(RYR2):c.2118C>T (p.Tyr706=)
|
rs1431902945
|
|
NM_001035.3(RYR2):c.2122G>A (p.Gly708Arg)
|
rs1235629482
|
|
NM_001035.3(RYR2):c.2129G>T (p.Gly710Val)
|
rs926435910
|
|
NM_001035.3(RYR2):c.2138G>C (p.Trp713Ser)
|
rs1553473238
|
|
NM_001035.3(RYR2):c.2140G>A (p.Gly714Ser)
|
|
|
NM_001035.3(RYR2):c.2141G>A (p.Gly714Asp)
|
|
|
NM_001035.3(RYR2):c.2145A>T (p.Gly715=)
|
rs764163453
|
|
NM_001035.3(RYR2):c.2148T>C (p.Asn716=)
|
rs1572596625
|
|
NM_001035.3(RYR2):c.2159A>G (p.Asp720Gly)
|
|
|
NM_001035.3(RYR2):c.215C>A (p.Ser72Tyr)
|
rs1696644532
|
|
NM_001035.3(RYR2):c.2169C>T (p.Phe723=)
|
|
|
NM_001035.3(RYR2):c.2171_2173del (p.Ser724del)
|
|
|
NM_001035.3(RYR2):c.2172del (p.Tyr725fs)
|
|
|
NM_001035.3(RYR2):c.2190T>C (p.Leu730=)
|
rs991873417
|
|
NM_001035.3(RYR2):c.21C>A (p.Gly7=)
|
|
|
NM_001035.3(RYR2):c.2201C>G (p.Ser734Ter)
|
|
|
NM_001035.3(RYR2):c.2203+5G>A
|
rs766288440
|
|
NM_001035.3(RYR2):c.2203G>C (p.Gly735Arg)
|
rs1442111387
|
|
NM_001035.3(RYR2):c.2204-10C>T
|
rs886046264
|
|
NM_001035.3(RYR2):c.2204-11C>A
|
|
|
NM_001035.3(RYR2):c.2204-14T>C
|
rs767973692
|
|
NM_001035.3(RYR2):c.2204-15T>C
|
rs1010022959
|
|
NM_001035.3(RYR2):c.2204-17dup
|
|
|
NM_001035.3(RYR2):c.2204-20T>A
|
|
|
NM_001035.3(RYR2):c.2204-8C>T
|
|
|
NM_001035.3(RYR2):c.2208T>C (p.Cys736=)
|
|
|
NM_001035.3(RYR2):c.2211T>A (p.Ile737=)
|
|
|
NM_001035.3(RYR2):c.2217T>C (p.Arg739=)
|
|
|
NM_001035.3(RYR2):c.221C>T (p.Ser74Phe)
|
|
|
NM_001035.3(RYR2):c.2220T>C (p.Thr740=)
|
|
|
NM_001035.3(RYR2):c.2225G>A (p.Ser742Asn)
|
|
|
NM_001035.3(RYR2):c.223G>A (p.Val75Ile)
|
rs868504232
|
|
NM_001035.3(RYR2):c.2246T>G (p.Leu749Ter)
|
|
|
NM_001035.3(RYR2):c.224T>C (p.Val75Ala)
|
rs2149568182
|
|
NM_001035.3(RYR2):c.2252C>T (p.Thr751Ile)
|
|
|
NM_001035.3(RYR2):c.2253T>A (p.Thr751=)
|
|
|
NM_001035.3(RYR2):c.2253T>C (p.Thr751=)
|
rs762905211
|
|
NM_001035.3(RYR2):c.2263A>G (p.Ile755Val)
|
rs1553474585
|
|
NM_001035.3(RYR2):c.2263A>T (p.Ile755Phe)
|
|
|
NM_001035.3(RYR2):c.2275T>G (p.Leu759Val)
|
rs768063536
|
|
NM_001035.3(RYR2):c.227G>A (p.Arg76Gln)
|
rs1696646305
|
|
NM_001035.3(RYR2):c.227G>C (p.Arg76Pro)
|
rs1696646305
|
|
NM_001035.3(RYR2):c.2288C>A (p.Ala763Asp)
|
|
|
NM_001035.3(RYR2):c.2288C>T (p.Ala763Val)
|
rs1664552898
|
|
NM_001035.3(RYR2):c.2293A>C (p.Ser765Arg)
|
rs748603282
|
|
NM_001035.3(RYR2):c.2301G>A (p.Ser767=)
|
rs117588730
|
|
NM_001035.3(RYR2):c.2301G>C (p.Ser767=)
|
|
|
NM_001035.3(RYR2):c.2305C>G (p.Arg769Gly)
|
|
|
NM_001035.3(RYR2):c.230C>T (p.Ala77Val)
|
rs1060500142
|
|
NM_001035.3(RYR2):c.2316A>G (p.Gly772=)
|
rs1482407990
|
|
NM_001035.3(RYR2):c.2328A>G (p.Gln776=)
|
|
|
NM_001035.3(RYR2):c.2331A>G (p.Gly777=)
|
|
|
NM_001035.3(RYR2):c.2332A>G (p.Met778Val)
|
rs1553474619
|
|
NM_001035.3(RYR2):c.2348A>G (p.Asn783Ser)
|
|
|
NM_001035.3(RYR2):c.2349C>T (p.Asn783=)
|
rs749506479
|
|
NM_001035.3(RYR2):c.2350A>G (p.Ile784Val)
|
rs794728729
|
|
NM_001035.3(RYR2):c.2353G>A (p.Asp785Asn)
|
rs774486571
|
|
NM_001035.3(RYR2):c.2359C>G (p.Leu787Val)
|
|
|
NM_001035.3(RYR2):c.2361C>T (p.Leu787=)
|
|
|
NM_001035.3(RYR2):c.2362T>C (p.Phe788Leu)
|
|
|
NM_001035.3(RYR2):c.2367T>C (p.Phe789=)
|
|
|
NM_001035.3(RYR2):c.2373C>A (p.Val791=)
|
rs770431899
|
|
NM_001035.3(RYR2):c.2381T>G (p.Phe794Cys)
|
|
|
NM_001035.3(RYR2):c.2392A>G (p.Ile798Val)
|
|
|
NM_001035.3(RYR2):c.2396+12T>A
|
rs876657576
|
|
NM_001035.3(RYR2):c.2396+12T>C
|
|
|
NM_001035.3(RYR2):c.2396+15G>A
|
|
|
NM_001035.3(RYR2):c.2396+17T>A
|
|
|
NM_001035.3(RYR2):c.2396+19T>G
|
|
|
NM_001035.3(RYR2):c.2396+20T>C
|
|
|
NM_001035.3(RYR2):c.2396+7A>C
|
rs992293461
|
|
NM_001035.3(RYR2):c.2396+7A>G
|
|
|
NM_001035.3(RYR2):c.2396+9G>A
|
|
|
NM_001035.3(RYR2):c.2396+9G>T
|
rs1572614163
|
|
NM_001035.3(RYR2):c.2397-11A>G
|
|
|
NM_001035.3(RYR2):c.2397-15G>A
|
|
|
NM_001035.3(RYR2):c.2397-20C>G
|
|
|
NM_001035.3(RYR2):c.2397A>C (p.Lys799Asn)
|
rs1558931160
|
|
NM_001035.3(RYR2):c.2398G>A (p.Val800Ile)
|
|
|
NM_001035.3(RYR2):c.2399T>C (p.Val800Ala)
|
rs794728730
|
|
NM_001035.3(RYR2):c.239A>G (p.Glu80Gly)
|
rs794728706
|
|
NM_001035.3(RYR2):c.2401C>A (p.Arg801Ser)
|
rs940667860
|
|
NM_001035.3(RYR2):c.2401C>T (p.Arg801Cys)
|
rs940667860
|
|
NM_001035.3(RYR2):c.2409G>A (p.Leu803=)
|
|
|
NM_001035.3(RYR2):c.2415A>C (p.Gly805=)
|
rs1572625083
|
|
NM_001035.3(RYR2):c.2418G>A (p.Gly806=)
|
rs1572625120
|
|
NM_001035.3(RYR2):c.2422C>T (p.His808Tyr)
|
rs1263859453
|
|
NM_001035.3(RYR2):c.2426G>A (p.Gly809Glu)
|
rs1060500140
|
|
NM_001035.3(RYR2):c.2430A>C (p.Glu810Asp)
|
|
|
NM_001035.3(RYR2):c.2435A>G (p.Lys812Arg)
|
rs779155482
|
|
NM_001035.3(RYR2):c.2440C>A (p.Leu814Ile)
|
|
|
NM_001035.3(RYR2):c.2442T>A (p.Leu814=)
|
|
|
NM_001035.3(RYR2):c.2449C>G (p.Pro817Ala)
|
rs780266883
|
|
NM_001035.3(RYR2):c.244C>T (p.Leu82=)
|
rs572934844
|
|
NM_001035.3(RYR2):c.2451T>G (p.Pro817=)
|
rs1664864797
|
|
NM_001035.3(RYR2):c.2454G>A (p.Gly818=)
|
rs769137517
|
|
NM_001035.3(RYR2):c.2454G>T (p.Gly818=)
|
rs769137517
|
|
NM_001035.3(RYR2):c.2461C>G (p.Pro821Ala)
|
|
|
NM_001035.3(RYR2):c.246G>A (p.Leu82=)
|
|
|
NM_001035.3(RYR2):c.2476G>C (p.Val826Leu)
|
|
|
NM_001035.3(RYR2):c.2480T>G (p.Leu827Arg)
|
|
|
NM_001035.3(RYR2):c.2482C>T (p.Pro828Ser)
|
rs794728698
|
|
NM_001035.3(RYR2):c.2492A>G (p.Lys831Arg)
|
|
|
NM_001035.3(RYR2):c.2502G>A (p.Val834=)
|
|
|
NM_001035.3(RYR2):c.2508C>T (p.His836=)
|
rs1572625606
|
|
NM_001035.3(RYR2):c.2510G>C (p.Ser837Thr)
|
rs375607964
|
|
NM_001035.3(RYR2):c.2512C>T (p.Arg838Ter)
|
|
|
NM_001035.3(RYR2):c.2513G>T (p.Arg838Leu)
|
rs764043352
|
|
NM_001035.3(RYR2):c.2520C>T (p.Tyr840=)
|
rs1553475643
|
|
NM_001035.3(RYR2):c.2522A>G (p.Lys841Arg)
|
|
|
NM_001035.3(RYR2):c.2527G>C (p.Glu843Gln)
|
|
|
NM_001035.3(RYR2):c.2533A>G (p.Thr845Ala)
|
|
|
NM_001035.3(RYR2):c.2536T>C (p.Tyr846His)
|
|
|
NM_001035.3(RYR2):c.2547C>T (p.Asp849=)
|
rs780283100
|
|
NM_001035.3(RYR2):c.2548C>T (p.Leu850=)
|
|
|
NM_001035.3(RYR2):c.254C>A (p.Thr85Asn)
|
rs772005577
|
|
NM_001035.3(RYR2):c.254C>T (p.Thr85Ile)
|
rs772005577
|
|
NM_001035.3(RYR2):c.255C>T (p.Thr85=)
|
|
|
NM_001035.3(RYR2):c.2561C>T (p.Thr854Ile)
|
rs1060500163
|
|
NM_001035.3(RYR2):c.2562A>C (p.Thr854=)
|
rs727503398
|
|
NM_001035.3(RYR2):c.2562A>T (p.Thr854=)
|
|
|
NM_001035.3(RYR2):c.2566T>C (p.Ser856Pro)
|
|
|
NM_001035.3(RYR2):c.2566T>G (p.Ser856Ala)
|
|
|
NM_001035.3(RYR2):c.258G>A (p.Val86=)
|
rs780635739
|
|
NM_001035.3(RYR2):c.2594T>A (p.Ile865Asn)
|
rs2150494586
|
|
NM_001035.3(RYR2):c.2600T>C (p.Val867Ala)
|
|
|
NM_001035.3(RYR2):c.2601G>A (p.Val867=)
|
rs1664878565
|
|
NM_001035.3(RYR2):c.2609G>T (p.Ser870Ile)
|
|
|
NM_001035.3(RYR2):c.2611C>G (p.Gln871Glu)
|
rs2150494702
|
|
NM_001035.3(RYR2):c.2613+10T>G
|
rs1664881012
|
|
NM_001035.3(RYR2):c.2613+11C>A
|
rs117018661
|
|
NM_001035.3(RYR2):c.2613+17G>A
|
|
|
NM_001035.3(RYR2):c.2613+20T>C
|
|
|
NM_001035.3(RYR2):c.2613+4C>T
|
|
|
NM_001035.3(RYR2):c.2613+5_2613+6insTTGC
|
rs747260754
|
|
NM_001035.3(RYR2):c.2613+8G>A
|
rs776678807
|
|
NM_001035.3(RYR2):c.2614-12T>G
|
|
|
NM_001035.3(RYR2):c.2614-18T>A
|
|
|
NM_001035.3(RYR2):c.2614-6T>C
|
|
|
NM_001035.3(RYR2):c.2616C>A (p.Ile872=)
|
|
|
NM_001035.3(RYR2):c.2617G>C (p.Val873Leu)
|
rs369248015
|
|
NM_001035.3(RYR2):c.261G>T (p.Glu87Asp)
|
|
|
NM_001035.3(RYR2):c.2626C>T (p.Pro876Ser)
|
|
|
NM_001035.3(RYR2):c.2628T>C (p.Pro876=)
|
|
|
NM_001035.3(RYR2):c.2631T>A (p.His877Gln)
|
rs1050687513
|
|
NM_001035.3(RYR2):c.2641A>G (p.Ile881Val)
|
rs773162223
|
|
NM_001035.3(RYR2):c.2657C>T (p.Ala886Val)
|
|
|
NM_001035.3(RYR2):c.2667C>T (p.Ile889=)
|
|
|
NM_001035.3(RYR2):c.267A>G (p.Ser89=)
|
|
|
NM_001035.3(RYR2):c.2680G>A (p.Val894Ile)
|
|
|
NM_001035.3(RYR2):c.2693T>A (p.Ile898Asn)
|
|
|
NM_001035.3(RYR2):c.2707C>G (p.Gln903Glu)
|
|
|
NM_001035.3(RYR2):c.2716C>G (p.Pro906Ala)
|
rs754520058
|
|
NM_001035.3(RYR2):c.2718+20A>G
|
|
|
NM_001035.3(RYR2):c.2718+3A>C
|
|
|
NM_001035.3(RYR2):c.2718+5G>A
|
|
|
NM_001035.3(RYR2):c.2718+6T>C
|
rs1416205366
|
|
NM_001035.3(RYR2):c.2718G>A (p.Pro906=)
|
rs1164077324
|
|
NM_001035.3(RYR2):c.2719-16T>A
|
|
|
NM_001035.3(RYR2):c.2719-18T>A
|
|
|
NM_001035.3(RYR2):c.2719-4T>G
|
rs397516523
|
|
NM_001035.3(RYR2):c.2719G>C (p.Val907Leu)
|
|
|
NM_001035.3(RYR2):c.273+5G>A
|
|
|
NM_001035.3(RYR2):c.2732A>G (p.Asn911Ser)
|
|
|
NM_001035.3(RYR2):c.2733C>T (p.Asn911=)
|
rs1665914586
|
|
NM_001035.3(RYR2):c.2736G>A (p.Lys912=)
|
|
|
NM_001035.3(RYR2):c.273G>A (p.Gly91=)
|
|
|
NM_001035.3(RYR2):c.274-13T>C
|
|
|
NM_001035.3(RYR2):c.274-17G>C
|
|
|
NM_001035.3(RYR2):c.274-5C>A
|
rs768394710
|
|
NM_001035.3(RYR2):c.274-5C>G
|
rs768394710
|
|
NM_001035.3(RYR2):c.2742A>G (p.Gln914=)
|
|
|
NM_001035.3(RYR2):c.2747C>T (p.Pro916Leu)
|
|
|
NM_001035.3(RYR2):c.2748A>G (p.Pro916=)
|
rs2147767600
|
|
NM_001035.3(RYR2):c.274C>A (p.Gln92Lys)
|
|
|
NM_001035.3(RYR2):c.274C>T (p.Gln92Ter)
|
rs2149691837
|
|
NM_001035.3(RYR2):c.2753T>C (p.Leu918Pro)
|
rs2147767632
|
|
NM_001035.3(RYR2):c.2764T>A (p.Ser922Thr)
|
|
|
NM_001035.3(RYR2):c.2765C>G (p.Ser922Cys)
|
rs1558945798
|
|
NM_001035.3(RYR2):c.2768A>G (p.Lys923Arg)
|
|
|
NM_001035.3(RYR2):c.2770C>T (p.Leu924=)
|
rs754678409
|
|
NM_001035.3(RYR2):c.2772G>T (p.Leu924=)
|
rs780664060
|
|
NM_001035.3(RYR2):c.2781G>A (p.Gln927=)
|
|
|
NM_001035.3(RYR2):c.2785C>G (p.Arg929Gly)
|
rs528906699
|
|
NM_001035.3(RYR2):c.2785C>T (p.Arg929Cys)
|
|
|
NM_001035.3(RYR2):c.2798T>C (p.Leu933Ser)
|
|
|
NM_001035.3(RYR2):c.279T>A (p.Val93=)
|
rs1037732490
|
|
NM_001035.3(RYR2):c.27C>T (p.Asp9=)
|
|
|
NM_001035.3(RYR2):c.2804T>C (p.Met935Thr)
|
rs1665922680
|
|
NM_001035.3(RYR2):c.2805G>A (p.Met935Ile)
|
rs727505044
|
|
NM_001035.3(RYR2):c.2807C>T (p.Ser936Leu)
|
rs1295898396
|
|
NM_001035.3(RYR2):c.2808G>T (p.Ser936=)
|
rs1057521205
|
|
NM_001035.3(RYR2):c.2811T>A (p.Leu937=)
|
|
|
NM_001035.3(RYR2):c.281A>G (p.Asp94Gly)
|
|
|
NM_001035.3(RYR2):c.281A>T (p.Asp94Val)
|
rs876657989
|
|
NM_001035.3(RYR2):c.2822+14C>G
|
|
|
NM_001035.3(RYR2):c.2822+19T>C
|
|
|
NM_001035.3(RYR2):c.2822+9C>T
|
rs2893574
|
|
NM_001035.3(RYR2):c.2823-19C>G
|
|
|
NM_001035.3(RYR2):c.2823-20T>C
|
|
|
NM_001035.3(RYR2):c.2823-4C>A
|
|
|
NM_001035.3(RYR2):c.2823-4C>T
|
|
|
NM_001035.3(RYR2):c.2832G>A (p.Leu944=)
|
rs2147939984
|
|
NM_001035.3(RYR2):c.2833G>T (p.Ala945Ser)
|
rs755764350
|
|
NM_001035.3(RYR2):c.2835A>C (p.Ala945=)
|
rs1362472908
|
|
NM_001035.3(RYR2):c.2841A>G (p.Gly947=)
|
|
|
NM_001035.3(RYR2):c.2843G>C (p.Cys948Ser)
|
rs1260308629
|
|
NM_001035.3(RYR2):c.2848G>T (p.Val950Leu)
|
rs794728731
|
|
NM_001035.3(RYR2):c.2854A>G (p.Ile952Val)
|
rs1668033659
|
|
NM_001035.3(RYR2):c.2868T>C (p.His956=)
|
|
|
NM_001035.3(RYR2):c.2868T>G (p.His956Gln)
|
rs1553486453
|
|
NM_001035.3(RYR2):c.2871T>C (p.Ala957=)
|
rs771821687
|
|
NM_001035.3(RYR2):c.2877C>A (p.Asp959Glu)
|
rs1042196921
|
|
NM_001035.3(RYR2):c.2878A>G (p.Lys960Glu)
|
|
|
NM_001035.3(RYR2):c.2884A>G (p.Lys962Glu)
|
rs1668037094
|
|
NM_001035.3(RYR2):c.2886A>G (p.Lys962=)
|
rs2147940587
|
|
NM_001035.3(RYR2):c.2887A>G (p.Lys963Glu)
|
|
|
NM_001035.3(RYR2):c.2889A>C (p.Lys963Asn)
|
|
|
NM_001035.3(RYR2):c.2895G>A (p.Lys965=)
|
|
|
NM_001035.3(RYR2):c.2899C>T (p.Pro967Ser)
|
rs1558977048
|
|
NM_001035.3(RYR2):c.2901C>G (p.Pro967=)
|
rs747234013
|
|
NM_001035.3(RYR2):c.2901C>T (p.Pro967=)
|
rs747234013
|
|
NM_001035.3(RYR2):c.2906+11T>A
|
|
|
NM_001035.3(RYR2):c.2906+13A>C
|
|
|
NM_001035.3(RYR2):c.2906+19C>A
|
|
|
NM_001035.3(RYR2):c.2906+6T>C
|
|
|
NM_001035.3(RYR2):c.2907-15G>A
|
|
|
NM_001035.3(RYR2):c.2907-1G>A
|
rs111843122
|
|
NM_001035.3(RYR2):c.2908T>A (p.Tyr970Asn)
|
|
|
NM_001035.3(RYR2):c.2910C>T (p.Tyr970=)
|
rs575899061
|
|
NM_001035.3(RYR2):c.2920A>G (p.Ser974Gly)
|
|
|
NM_001035.3(RYR2):c.2921G>T (p.Ser974Ile)
|
|
|
NM_001035.3(RYR2):c.2926T>C (p.Tyr976His)
|
|
|
NM_001035.3(RYR2):c.292del (p.Trp98fs)
|
rs2149691982
|
|
NM_001035.3(RYR2):c.2930A>G (p.Lys977Arg)
|
|
|
NM_001035.3(RYR2):c.2930A>T (p.Lys977Met)
|
rs1670046069
|
|
NM_001035.3(RYR2):c.2932C>G (p.Pro978Ala)
|
|
|
NM_001035.3(RYR2):c.2939C>T (p.Pro980Leu)
|
|
|
NM_001035.3(RYR2):c.294+12C>T
|
|
|
NM_001035.3(RYR2):c.294+14T>C
|
|
|
NM_001035.3(RYR2):c.294+5G>A
|
rs1699261815
|
|
NM_001035.3(RYR2):c.294+8T>A
|
rs2149692036
|
|
NM_001035.3(RYR2):c.2944G>A (p.Asp982Asn)
|
rs1670048030
|
|
NM_001035.3(RYR2):c.2948T>G (p.Leu983Arg)
|
rs1670048479
|
|
NM_001035.3(RYR2):c.295-3C>T
|
|
|
NM_001035.3(RYR2):c.295-7C>G
|
|
|
NM_001035.3(RYR2):c.295-9C>A
|
|
|
NM_001035.3(RYR2):c.2951G>C (p.Ser984Thr)
|
|
|
NM_001035.3(RYR2):c.2958C>T (p.Ile986=)
|
|
|
NM_001035.3(RYR2):c.2969C>A (p.Pro990Gln)
|
rs912594681
|
|
NM_001035.3(RYR2):c.2971T>A (p.Ser991Thr)
|
|
|
NM_001035.3(RYR2):c.2971T>C (p.Ser991Pro)
|
|
|
NM_001035.3(RYR2):c.2972_2973inv (p.Ser991Leu)
|
|
|
NM_001035.3(RYR2):c.2973A>C (p.Ser991=)
|
|
|
NM_001035.3(RYR2):c.2973A>T (p.Ser991=)
|
rs2253273
|
|
NM_001035.3(RYR2):c.2980G>A (p.Ala994Thr)
|
|
|
NM_001035.3(RYR2):c.2982A>G (p.Ala994=)
|
|
|
NM_001035.3(RYR2):c.2990A>G (p.Asp997Gly)
|
rs2148090472
|
|
NM_001035.3(RYR2):c.2991C>G (p.Asp997Glu)
|
rs2148090488
|
|
NM_001035.3(RYR2):c.2998G>T (p.Ala1000Ser)
|
|
|
NM_001035.3(RYR2):c.2999C>T (p.Ala1000Val)
|
|
|
NM_001035.3(RYR2):c.29A>C (p.Glu10Ala)
|
rs1027423344
|
|
NM_001035.3(RYR2):c.3005A>C (p.Asn1002Thr)
|
rs1559008003
|
|
NM_001035.3(RYR2):c.300C>A (p.Phe100Leu)
|
rs2149727101
|
|
NM_001035.3(RYR2):c.301A>G (p.Met101Val)
|
rs754323182
|
|
NM_001035.3(RYR2):c.3023C>A (p.Ala1008Glu)
|
rs1232224119
|
|
NM_001035.3(RYR2):c.3023C>T (p.Ala1008Val)
|
rs1232224119
|
|
NM_001035.3(RYR2):c.3026G>C (p.Arg1009Pro)
|
rs754812132
|
|
NM_001035.3(RYR2):c.3027G>A (p.Arg1009=)
|
|
|
NM_001035.3(RYR2):c.3028G>T (p.Asp1010Tyr)
|
rs780949229
|
|
NM_001035.3(RYR2):c.3029A>T (p.Asp1010Val)
|
|
|
NM_001035.3(RYR2):c.3038G>T (p.Arg1013Leu)
|
rs149514924
|
|
NM_001035.3(RYR2):c.3039G>A (p.Arg1013=)
|
rs1481647853
|
|
NM_001035.3(RYR2):c.3045C>T (p.Gly1015=)
|
rs1405734932
|
|
NM_001035.3(RYR2):c.3050C>T (p.Thr1017Ile)
|
|
|
NM_001035.3(RYR2):c.3063A>G (p.Gln1021=)
|
|
|
NM_001035.3(RYR2):c.3065A>G (p.Gln1022Arg)
|
rs761384379
|
|
NM_001035.3(RYR2):c.3066+12T>A
|
rs772628091
|
|
NM_001035.3(RYR2):c.3066+13T>C
|
rs2148091810
|
|
NM_001035.3(RYR2):c.3066+15G>A
|
|
|
NM_001035.3(RYR2):c.3066+5A>G
|
rs1346060761
|
|
NM_001035.3(RYR2):c.3067-12G>A
|
|
|
NM_001035.3(RYR2):c.3067-17C>T
|
|
|
NM_001035.3(RYR2):c.3067-20C>T
|
|
|
NM_001035.3(RYR2):c.3067-4G>T
|
|
|
NM_001035.3(RYR2):c.3067-7C>T
|
|
|
NM_001035.3(RYR2):c.3067G>A (p.Asp1023Asn)
|
|
|
NM_001035.3(RYR2):c.3069C>G (p.Asp1023Glu)
|
|
|
NM_001035.3(RYR2):c.3070G>A (p.Val1024Ile)
|
rs1291873158
|
|
NM_001035.3(RYR2):c.309+10C>T
|
|
|
NM_001035.3(RYR2):c.309+18A>T
|
|
|
NM_001035.3(RYR2):c.309+5G>T
|
rs794728695
|
|
NM_001035.3(RYR2):c.309+9_309+13del
|
rs779631412
|
|
NM_001035.3(RYR2):c.3091C>T (p.Arg1031Cys)
|
|
|
NM_001035.3(RYR2):c.3092G>A (p.Arg1031His)
|
|
|
NM_001035.3(RYR2):c.310-18T>C
|
|
|
NM_001035.3(RYR2):c.3107C>G (p.Thr1036Ser)
|
|
|
NM_001035.3(RYR2):c.3107C>T (p.Thr1036Ile)
|
|
|
NM_001035.3(RYR2):c.3109C>G (p.Leu1037Val)
|
rs762576802
|
|
NM_001035.3(RYR2):c.310A>T (p.Thr104Ser)
|
rs1060500155
|
|
NM_001035.3(RYR2):c.3116A>G (p.Asp1039Gly)
|
|
|
NM_001035.3(RYR2):c.3122G>A (p.Arg1041Gln)
|
rs773781713
|
|
NM_001035.3(RYR2):c.312T>C (p.Thr104=)
|
|
|
NM_001035.3(RYR2):c.3135C>G (p.Ser1045=)
|
rs759494684
|
|
NM_001035.3(RYR2):c.3148C>T (p.Leu1050Phe)
|
rs1572837868
|
|
NM_001035.3(RYR2):c.3152G>T (p.Arg1051Leu)
|
|
|
NM_001035.3(RYR2):c.3156G>A (p.Glu1052=)
|
|
|
NM_001035.3(RYR2):c.3177G>T (p.Gly1059=)
|
|
|
NM_001035.3(RYR2):c.3182G>C (p.Gly1061Ala)
|
rs373083911
|
|
NM_001035.3(RYR2):c.3185A>G (p.Tyr1062Cys)
|
rs1572838155
|
|
NM_001035.3(RYR2):c.3196G>A (p.Ala1066Thr)
|
|
|
NM_001035.3(RYR2):c.3206A>G (p.Gln1069Arg)
|
|
|
NM_001035.3(RYR2):c.3208G>C (p.Asp1070His)
|
rs1670298968
|
|
NM_001035.3(RYR2):c.3214+14A>C
|
|
|
NM_001035.3(RYR2):c.3214+19C>T
|
|
|
NM_001035.3(RYR2):c.3214+20C>A
|
|
|
NM_001035.3(RYR2):c.3214+9G>C
|
|
|
NM_001035.3(RYR2):c.3214+9G>T
|
|
|
NM_001035.3(RYR2):c.3215-11C>G
|
rs1340446563
|
|
NM_001035.3(RYR2):c.3215-13G>C
|
|
|
NM_001035.3(RYR2):c.3215-14T>C
|
rs1672104473
|
|
NM_001035.3(RYR2):c.3215-14T>G
|
rs1672104473
|
|
NM_001035.3(RYR2):c.3215-15_3215-14del
|
|
|
NM_001035.3(RYR2):c.3215-5C>T
|
|
|
NM_001035.3(RYR2):c.3215-9A>G
|
|
|
NM_001035.3(RYR2):c.3215C>G (p.Ala1072Gly)
|
rs1321772491
|
|
NM_001035.3(RYR2):c.3217G>A (p.Ala1073Thr)
|
rs1427686482
|
|
NM_001035.3(RYR2):c.3219C>T (p.Ala1073=)
|
rs2148251416
|
|
NM_001035.3(RYR2):c.3230T>G (p.Val1077Gly)
|
|
|
NM_001035.3(RYR2):c.3232T>C (p.Cys1078Arg)
|
|
|
NM_001035.3(RYR2):c.3246G>A (p.Gly1082=)
|
rs1672110603
|
|
NM_001035.3(RYR2):c.3248A>G (p.Glu1083Gly)
|
|
|
NM_001035.3(RYR2):c.3261C>A (p.Ile1087=)
|
|
|
NM_001035.3(RYR2):c.3265C>T (p.Arg1089Cys)
|
rs879255350
|
|
NM_001035.3(RYR2):c.3267T>C (p.Arg1089=)
|
rs761738779
|
|
NM_001035.3(RYR2):c.3270C>A (p.Ala1090=)
|
rs1344074824
|
|
NM_001035.3(RYR2):c.3270C>T (p.Ala1090=)
|
rs1344074824
|
|
NM_001035.3(RYR2):c.3273G>A (p.Glu1091=)
|
|
|
NM_001035.3(RYR2):c.3277A>C (p.Thr1093Pro)
|
rs1672114573
|
|
NM_001035.3(RYR2):c.3278C>T (p.Thr1093Ile)
|
|
|
NM_001035.3(RYR2):c.3281A>G (p.Tyr1094Cys)
|
|
|
NM_001035.3(RYR2):c.3282T>C (p.Tyr1094=)
|
rs1572900604
|
|
NM_001035.3(RYR2):c.3286G>A (p.Val1096Met)
|
rs1386531236
|
|
NM_001035.3(RYR2):c.3287T>C (p.Val1096Ala)
|
|
|
NM_001035.3(RYR2):c.3289A>G (p.Lys1097Glu)
|
rs1553504083
|
|
NM_001035.3(RYR2):c.3292G>T (p.Ala1098Ser)
|
rs2148252279
|
|
NM_001035.3(RYR2):c.3293C>T (p.Ala1098Val)
|
rs1318943750
|
|
NM_001035.3(RYR2):c.3298C>A (p.Arg1100=)
|
rs1411654663
|
|
NM_001035.3(RYR2):c.3298C>T (p.Arg1100Trp)
|
|
|
NM_001035.3(RYR2):c.3299G>A (p.Arg1100Gln)
|
|
|
NM_001035.3(RYR2):c.3306T>C (p.Tyr1102=)
|
|
|
NM_001035.3(RYR2):c.331C>T (p.Arg111Ter)
|
|
|
NM_001035.3(RYR2):c.3321G>A (p.Thr1107=)
|
rs377716608
|
|
NM_001035.3(RYR2):c.3321G>C (p.Thr1107=)
|
rs377716608
|
|
NM_001035.3(RYR2):c.3324C>T (p.Val1108=)
|
|
|
NM_001035.3(RYR2):c.3326C>G (p.Thr1109Ser)
|
rs2148252557
|
|
NM_001035.3(RYR2):c.332G>A (p.Arg111Gln)
|
|
|
NM_001035.3(RYR2):c.3332G>C (p.Gly1111Ala)
|
|
|
NM_001035.3(RYR2):c.3343G>A (p.Val1115Ile)
|
|
|
NM_001035.3(RYR2):c.3347G>T (p.Gly1116Val)
|
|
|
NM_001035.3(RYR2):c.3348T>C (p.Gly1116=)
|
|
|
NM_001035.3(RYR2):c.3351G>A (p.Trp1117Ter)
|
rs1672122070
|
|
NM_001035.3(RYR2):c.3359C>T (p.Pro1120Leu)
|
|
|
NM_001035.3(RYR2):c.3360T>C (p.Pro1120=)
|
rs2148252894
|
|
NM_001035.3(RYR2):c.3361G>A (p.Gly1121Ser)
|
|
|
NM_001035.3(RYR2):c.3362del (p.Gly1121fs)
|
|
|
NM_001035.3(RYR2):c.3366T>C (p.Cys1122=)
|
rs2148252969
|
|
NM_001035.3(RYR2):c.3370C>T (p.Pro1124Ser)
|
rs2148253003
|
|
NM_001035.3(RYR2):c.3371C>A (p.Pro1124Gln)
|
rs779640835
|
|
NM_001035.3(RYR2):c.3371C>T (p.Pro1124Leu)
|
rs779640835
|
|
NM_001035.3(RYR2):c.337C>G (p.Leu113Val)
|
|
|
NM_001035.3(RYR2):c.3382C>G (p.Leu1128Val)
|
|
|
NM_001035.3(RYR2):c.3394G>C (p.Glu1132Gln)
|
|
|
NM_001035.3(RYR2):c.3397C>G (p.Arg1133Gly)
|
rs748085424
|
|
NM_001035.3(RYR2):c.3398G>A (p.Arg1133His)
|
rs374397612
|
|
NM_001035.3(RYR2):c.3401C>A (p.Ala1134Asp)
|
|
|
NM_001035.3(RYR2):c.3401C>G (p.Ala1134Gly)
|
rs1319844305
|
|
NM_001035.3(RYR2):c.3402C>T (p.Ala1134=)
|
|
|
NM_001035.3(RYR2):c.340C>T (p.Leu114Phe)
|
|
|
NM_001035.3(RYR2):c.3414T>G (p.Asp1138Glu)
|
rs763881346
|
|
NM_001035.3(RYR2):c.3421A>C (p.Lys1141Gln)
|
|
|
NM_001035.3(RYR2):c.3423+16C>T
|
|
|
NM_001035.3(RYR2):c.3423+2T>C
|
rs2148253549
|
|
NM_001035.3(RYR2):c.3423+5G>A
|
|
|
NM_001035.3(RYR2):c.3423+8G>T
|
|
|
NM_001035.3(RYR2):c.3424-19T>A
|
|
|
NM_001035.3(RYR2):c.3424-5T>C
|
|
|
NM_001035.3(RYR2):c.3424-6G>C
|
rs1672398208
|
|
NM_001035.3(RYR2):c.3424-7dup
|
|
|
NM_001035.3(RYR2):c.3424-9T>A
|
|
|
NM_001035.3(RYR2):c.3430C>T (p.Arg1144Trp)
|
|
|
NM_001035.3(RYR2):c.3432G>A (p.Arg1144=)
|
rs764547857
|
|
NM_001035.3(RYR2):c.3446A>G (p.Asn1149Ser)
|
rs1289440571
|
|
NM_001035.3(RYR2):c.344A>G (p.Tyr115Cys)
|
rs1558698334
|
|
NM_001035.3(RYR2):c.3459G>A (p.Gly1153=)
|
|
|
NM_001035.3(RYR2):c.3459G>T (p.Gly1153=)
|
|
|
NM_001035.3(RYR2):c.3460C>A (p.Arg1154Ser)
|
rs765617616
|
|
NM_001035.3(RYR2):c.3462C>T (p.Arg1154=)
|
|
|
NM_001035.3(RYR2):c.346G>A (p.Gly116Arg)
|
|
|
NM_001035.3(RYR2):c.3477C>T (p.Gly1159=)
|
rs780861754
|
|
NM_001035.3(RYR2):c.3481G>T (p.Val1161Phe)
|
|
|
NM_001035.3(RYR2):c.3482T>C (p.Val1161Ala)
|
rs2148275449
|
|
NM_001035.3(RYR2):c.3486G>A (p.Val1162=)
|
rs749237298
|
|
NM_001035.3(RYR2):c.3496G>A (p.Val1166Ile)
|
rs886046266
|
|
NM_001035.3(RYR2):c.349C>T (p.His117Tyr)
|
rs1057524592
|
|
NM_001035.3(RYR2):c.3502A>C (p.Met1168Leu)
|
|
|
NM_001035.3(RYR2):c.3502A>G (p.Met1168Val)
|
rs1217551741
|
|
NM_001035.3(RYR2):c.3508G>A (p.Glu1170Lys)
|
rs772236215
|
|
NM_001035.3(RYR2):c.350A>G (p.His117Arg)
|
|
|
NM_001035.3(RYR2):c.3515C>T (p.Thr1172Ile)
|
rs768755342
|
|
NM_001035.3(RYR2):c.3521T>G (p.Met1174Arg)
|
|
|
NM_001035.3(RYR2):c.3527C>T (p.Thr1176Ile)
|
|
|
NM_001035.3(RYR2):c.3529C>T (p.Leu1177=)
|
rs1386427245
|
|
NM_001035.3(RYR2):c.3546T>C (p.Leu1182=)
|
|
|
NM_001035.3(RYR2):c.355A>G (p.Ile119Val)
|
rs1477582479
|
|
NM_001035.3(RYR2):c.3560G>T (p.Gly1187Val)
|
|
|
NM_001035.3(RYR2):c.3567A>G (p.Glu1189=)
|
rs368959706
|
|
NM_001035.3(RYR2):c.3568C>T (p.Leu1190=)
|
|
|
NM_001035.3(RYR2):c.3571G>A (p.Ala1191Thr)
|
|
|
NM_001035.3(RYR2):c.3583T>A (p.Phe1195Ile)
|
|
|
NM_001035.3(RYR2):c.3585T>C (p.Phe1195=)
|
|
|
NM_001035.3(RYR2):c.3587A>T (p.Asp1196Val)
|
rs1672413818
|
|
NM_001035.3(RYR2):c.3588T>A (p.Asp1196Glu)
|
|
|
NM_001035.3(RYR2):c.3592G>T (p.Gly1198Cys)
|
|
|
NM_001035.3(RYR2):c.3594C>A (p.Gly1198=)
|
|
|
NM_001035.3(RYR2):c.3596A>G (p.Asp1199Gly)
|
rs149760466
|
|
NM_001035.3(RYR2):c.3598+10C>G
|
|
|
NM_001035.3(RYR2):c.3598+10_3598+12del
|
rs757703672
|
|
NM_001035.3(RYR2):c.3598+11T>C
|
|
|
NM_001035.3(RYR2):c.3598+13T>G
|
|
|
NM_001035.3(RYR2):c.3598+15T>G
|
rs2148276559
|
|
NM_001035.3(RYR2):c.3598+7C>T
|
rs1197179687
|
|
NM_001035.3(RYR2):c.3599-10_3599-9del
|
|
|
NM_001035.3(RYR2):c.3599-14T>C
|
|
|
NM_001035.3(RYR2):c.3599-16T>G
|
rs966962775
|
|
NM_001035.3(RYR2):c.3599-20G>T
|
|
|
NM_001035.3(RYR2):c.3599-3C>A
|
|
|
NM_001035.3(RYR2):c.3599-9del
|
rs11331089
|
|
NM_001035.3(RYR2):c.3599-9dup
|
rs11331089
|
|
NM_001035.3(RYR2):c.3600A>T (p.Gly1200=)
|
rs2148430388
|
|
NM_001035.3(RYR2):c.3601T>G (p.Phe1201Val)
|
|
|
NM_001035.3(RYR2):c.3607C>A (p.Pro1203Thr)
|
|
|
NM_001035.3(RYR2):c.3618C>A (p.Ser1206Arg)
|
|
|
NM_001035.3(RYR2):c.3620T>C (p.Leu1207Pro)
|
rs1674951536
|
|
NM_001035.3(RYR2):c.3625G>A (p.Val1209Met)
|
rs794728733
|
|
NM_001035.3(RYR2):c.3626T>C (p.Val1209Ala)
|
|
|
NM_001035.3(RYR2):c.3651T>C (p.Phe1217=)
|
|
|
NM_001035.3(RYR2):c.3658G>T (p.Asp1220Tyr)
|
rs753078642
|
|
NM_001035.3(RYR2):c.3659A>T (p.Asp1220Val)
|
|
|
NM_001035.3(RYR2):c.365G>T (p.Arg122Leu)
|
rs727503396
|
|
NM_001035.3(RYR2):c.3681C>T (p.Phe1227=)
|
rs2148430827
|
|
NM_001035.3(RYR2):c.3693C>T (p.Gly1231=)
|
|
|
NM_001035.3(RYR2):c.3698A>G (p.Gln1233Arg)
|
rs1674959238
|
|
NM_001035.3(RYR2):c.36G>A (p.Gln12=)
|
|
|
NM_001035.3(RYR2):c.3704G>A (p.Gly1235Asp)
|
rs765263326
|
|
NM_001035.3(RYR2):c.3708T>C (p.Tyr1236=)
|
|
|
NM_001035.3(RYR2):c.3711A>G (p.Glu1237=)
|
|
|
NM_001035.3(RYR2):c.3712C>T (p.Pro1238Ser)
|
|
|
NM_001035.3(RYR2):c.3726T>C (p.Asn1242=)
|
|
|
NM_001035.3(RYR2):c.3727A>G (p.Thr1243Ala)
|
rs2148431124
|
|
NM_001035.3(RYR2):c.3728C>T (p.Thr1243Ile)
|
rs2148431137
|
|
NM_001035.3(RYR2):c.3732C>T (p.Asn1244=)
|
rs1327517169
|
|
NM_001035.3(RYR2):c.375T>C (p.Tyr125=)
|
rs397516528
|
|
NM_001035.3(RYR2):c.3760A>G (p.Arg1254Gly)
|
rs748217122
|
|
NM_001035.3(RYR2):c.3761G>A (p.Arg1254Lys)
|
|
|
NM_001035.3(RYR2):c.3762G>A (p.Arg1254=)
|
|
|
NM_001035.3(RYR2):c.3762G>C (p.Arg1254Ser)
|
|
|
NM_001035.3(RYR2):c.3766C>A (p.Pro1256Thr)
|
rs769729405
|
|
NM_001035.3(RYR2):c.3768T>A (p.Pro1256=)
|
|
|
NM_001035.3(RYR2):c.3771G>A (p.Gln1257=)
|
|
|
NM_001035.3(RYR2):c.3794A>G (p.His1265Arg)
|
rs1674968448
|
|
NM_001035.3(RYR2):c.3795T>C (p.His1265=)
|
rs2148431580
|
|
NM_001035.3(RYR2):c.37T>C (p.Phe13Leu)
|
rs794728761
|
|
NM_001035.3(RYR2):c.3800A>G (p.His1267Arg)
|
|
|
NM_001035.3(RYR2):c.3800A>T (p.His1267Leu)
|
|
|
NM_001035.3(RYR2):c.3802A>G (p.Ile1268Val)
|
|
|
NM_001035.3(RYR2):c.3807+19A>T
|
|
|
NM_001035.3(RYR2):c.3807+4T>A
|
rs1572996258
|
|
NM_001035.3(RYR2):c.3807+8T>G
|
rs2148431750
|
|
NM_001035.3(RYR2):c.3808-10C>G
|
|
|
NM_001035.3(RYR2):c.3808-15T>C
|
|
|
NM_001035.3(RYR2):c.3808-16C>A
|
|
|
NM_001035.3(RYR2):c.3808-16C>T
|
|
|
NM_001035.3(RYR2):c.3808-4C>T
|
rs1675049564
|
|
NM_001035.3(RYR2):c.3808-5G>C
|
rs776405427
|
|
NM_001035.3(RYR2):c.3812C>T (p.Thr1271Ile)
|
|
|
NM_001035.3(RYR2):c.381C>T (p.Gly127=)
|
|
|
NM_001035.3(RYR2):c.3823G>T (p.Gly1275Cys)
|
|
|
NM_001035.3(RYR2):c.3834C>T (p.Asp1278=)
|
rs1553514916
|
|
NM_001035.3(RYR2):c.3838T>C (p.Ser1280Pro)
|
rs1208920889
|
|
NM_001035.3(RYR2):c.3839C>G (p.Ser1280Cys)
|
rs759424061
|
|
NM_001035.3(RYR2):c.384+14T>C
|
|
|
NM_001035.3(RYR2):c.384+17T>G
|
|
|
NM_001035.3(RYR2):c.384+19T>C
|
|
|
NM_001035.3(RYR2):c.384+9G>T
|
|
|
NM_001035.3(RYR2):c.3840C>A (p.Ser1280=)
|
rs752970338
|
|
NM_001035.3(RYR2):c.3840C>T (p.Ser1280=)
|
|
|
NM_001035.3(RYR2):c.3841C>G (p.Pro1281Ala)
|
rs2148436643
|
|
NM_001035.3(RYR2):c.385-17G>C
|
|
|
NM_001035.3(RYR2):c.385-18T>G
|
|
|
NM_001035.3(RYR2):c.385-20A>T
|
rs2149782305
|
|
NM_001035.3(RYR2):c.385-8C>T
|
rs529230897
|
|
NM_001035.3(RYR2):c.385-9A>C
|
rs140998248
|
|
NM_001035.3(RYR2):c.385-9A>G
|
rs140998248
|
|
NM_001035.3(RYR2):c.3855C>G (p.Val1285=)
|
|
|
NM_001035.3(RYR2):c.3858T>C (p.Thr1286=)
|
|
|
NM_001035.3(RYR2):c.3864G>A (p.Lys1288=)
|
|
|
NM_001035.3(RYR2):c.386A>G (p.Tyr129Cys)
|
|
|
NM_001035.3(RYR2):c.3872G>C (p.Gly1291Ala)
|
|
|
NM_001035.3(RYR2):c.3890C>G (p.Thr1297Ser)
|
rs746350036
|
|
NM_001035.3(RYR2):c.3894T>C (p.Asp1298=)
|
|
|
NM_001035.3(RYR2):c.3896T>G (p.Ile1299Ser)
|
rs772551383
|
|
NM_001035.3(RYR2):c.3897C>G (p.Ile1299Met)
|
rs747846327
|
|
NM_001035.3(RYR2):c.38T>G (p.Phe13Cys)
|
rs878854155
|
|
NM_001035.3(RYR2):c.3900G>A (p.Met1300Ile)
|
|
|
NM_001035.3(RYR2):c.3905A>T (p.Tyr1302Phe)
|
rs2148437157
|
|
NM_001035.3(RYR2):c.3906T>C (p.Tyr1302=)
|
|
|
NM_001035.3(RYR2):c.3908G>A (p.Arg1303His)
|
rs766670579
|
|
NM_001035.3(RYR2):c.390G>C (p.Leu130=)
|
|
|
NM_001035.3(RYR2):c.3912G>T (p.Leu1304=)
|
|
|
NM_001035.3(RYR2):c.3916A>G (p.Met1306Val)
|
rs767360469
|
|
NM_001035.3(RYR2):c.392G>A (p.Cys131Tyr)
|
rs747297455
|
|
NM_001035.3(RYR2):c.3946A>G (p.Lys1316Glu)
|
rs1675067457
|
|
NM_001035.3(RYR2):c.3949A>G (p.Thr1317Ala)
|
rs1553514981
|
|
NM_001035.3(RYR2):c.3952G>C (p.Val1318Leu)
|
rs1675068916
|
|
NM_001035.3(RYR2):c.3961G>A (p.Gly1321Arg)
|
rs2148437710
|
|
NM_001035.3(RYR2):c.3964C>G (p.Leu1322Val)
|
|
|
NM_001035.3(RYR2):c.3966C>G (p.Leu1322=)
|
rs1235181059
|
|
NM_001035.3(RYR2):c.396C>G (p.Cys132Trp)
|
|
|
NM_001035.3(RYR2):c.3971G>A (p.Gly1324Glu)
|
|
|
NM_001035.3(RYR2):c.3975T>C (p.Ala1325=)
|
|
|
NM_001035.3(RYR2):c.3977G>A (p.Gly1326Asp)
|
rs1675072837
|
|
NM_001035.3(RYR2):c.3978C>T (p.Gly1326=)
|
rs745839967
|
|
NM_001035.3(RYR2):c.3980T>C (p.Leu1327Pro)
|
rs923667966
|
|
NM_001035.3(RYR2):c.3988C>T (p.Pro1330Ser)
|
rs1675074576
|
|
NM_001035.3(RYR2):c.3993G>C (p.Lys1331Asn)
|
|
|
NM_001035.3(RYR2):c.39C>G (p.Phe13Leu)
|
rs1660038687
|
|
NM_001035.3(RYR2):c.39C>T (p.Phe13=)
|
|
|
NM_001035.3(RYR2):c.4000T>G (p.Leu1334Val)
|
|
|
NM_001035.3(RYR2):c.400T>C (p.Ser134Pro)
|
|
|
NM_001035.3(RYR2):c.4012G>A (p.Asp1338Asn)
|
|
|
NM_001035.3(RYR2):c.4013A>T (p.Asp1338Val)
|
|
|
NM_001035.3(RYR2):c.4022C>T (p.Ser1341Phe)
|
|
|
NM_001035.3(RYR2):c.4022_4023del (p.Asp1340_Ser1341insTer)
|
|
|
NM_001035.3(RYR2):c.4035T>G (p.Val1345=)
|
|
|
NM_001035.3(RYR2):c.404C>A (p.Thr135Asn)
|
|
|
NM_001035.3(RYR2):c.4053T>C (p.His1351=)
|
|
|
NM_001035.3(RYR2):c.4059T>C (p.His1353=)
|
|
|
NM_001035.3(RYR2):c.405C>A (p.Thr135=)
|
rs1214302342
|
|
NM_001035.3(RYR2):c.4068C>A (p.Pro1356=)
|
rs199821105
|
|
NM_001035.3(RYR2):c.4068C>G (p.Pro1356=)
|
|
|
NM_001035.3(RYR2):c.4069G>A (p.Asp1357Asn)
|
rs193922626
|
|
NM_001035.3(RYR2):c.4072C>T (p.Arg1358Cys)
|
rs771593145
|
|
NM_001035.3(RYR2):c.4073G>A (p.Arg1358His)
|
rs1675084862
|
|
NM_001035.3(RYR2):c.4080CAAAGA[1] (p.1360DK[1])
|
|
|
NM_001035.3(RYR2):c.4089A>G (p.Lys1363=)
|
|
|
NM_001035.3(RYR2):c.408C>T (p.Ser136=)
|
rs1553425562
|
|
NM_001035.3(RYR2):c.4095T>C (p.Ala1365=)
|
|
|
NM_001035.3(RYR2):c.409C>A (p.Arg137=)
|
|
|
NM_001035.3(RYR2):c.4102C>G (p.Pro1368Ala)
|
|
|
NM_001035.3(RYR2):c.4102C>T (p.Pro1368Ser)
|
rs1675088114
|
|
NM_001035.3(RYR2):c.4109T>C (p.Phe1370Ser)
|
rs1675088358
|
|
NM_001035.3(RYR2):c.4110T>A (p.Phe1370Leu)
|
|
|
NM_001035.3(RYR2):c.4114A>C (p.Asn1372His)
|
|
|
NM_001035.3(RYR2):c.4121A>T (p.Lys1374Ile)
|
|
|
NM_001035.3(RYR2):c.4130C>T (p.Ala1377Val)
|
|
|
NM_001035.3(RYR2):c.4146T>C (p.Ser1382=)
|
|
|
NM_001035.3(RYR2):c.4150C>T (p.Leu1384=)
|
|
|
NM_001035.3(RYR2):c.4160+10T>C
|
rs397516530
|
|
NM_001035.3(RYR2):c.4160+15C>G
|
|
|
NM_001035.3(RYR2):c.4160+16G>C
|
|
|
NM_001035.3(RYR2):c.4161-18T>C
|
|
|
NM_001035.3(RYR2):c.4161-18T>G
|
|
|
NM_001035.3(RYR2):c.4161-3C>T
|
|
|
NM_001035.3(RYR2):c.4161A>G (p.Arg1387=)
|
rs1573004917
|
|
NM_001035.3(RYR2):c.4171A>C (p.Arg1391=)
|
rs371561223
|
|
NM_001035.3(RYR2):c.4172GAA[1] (p.Arg1392del)
|
|
|
NM_001035.3(RYR2):c.4175G>A (p.Arg1392Lys)
|
rs1675223766
|
|
NM_001035.3(RYR2):c.4176A>G (p.Arg1392=)
|
rs2148445989
|
|
NM_001035.3(RYR2):c.4178C>T (p.Thr1393Ile)
|
rs1675223989
|
|
NM_001035.3(RYR2):c.4183C>G (p.Pro1395Ala)
|
rs1553515418
|
|
NM_001035.3(RYR2):c.4184_4194del (p.Pro1395fs)
|
|
|
NM_001035.3(RYR2):c.4189T>C (p.Tyr1397His)
|
|
|
NM_001035.3(RYR2):c.4190A>T (p.Tyr1397Phe)
|
rs1318973952
|
|
NM_001035.3(RYR2):c.4193G>A (p.Ser1398Asn)
|
rs761006189
|
|
NM_001035.3(RYR2):c.4193G>T (p.Ser1398Ile)
|
|
|
NM_001035.3(RYR2):c.4195_4200del (p.Thr1399_Ser1400del)
|
rs1553515428
|
|
NM_001035.3(RYR2):c.41T>C (p.Leu14Pro)
|
rs886043844
|
|
NM_001035.3(RYR2):c.4200C>T (p.Ser1400=)
|
|
|
NM_001035.3(RYR2):c.4205C>A (p.Ser1402Tyr)
|
|
|
NM_001035.3(RYR2):c.4207G>T (p.Ala1403Ser)
|
|
|
NM_001035.3(RYR2):c.4208_4209insTGTAATCTGC (p.Arg1404fs)
|
rs1553515441
|
|
NM_001035.3(RYR2):c.420T>C (p.Thr140=)
|
rs2149782582
|
|
NM_001035.3(RYR2):c.4218C>A (p.Thr1406=)
|
rs368817788
|
|
NM_001035.3(RYR2):c.4218C>T (p.Thr1406=)
|
rs368817788
|
|
NM_001035.3(RYR2):c.4219G>A (p.Glu1407Lys)
|
rs1420999217
|
|
NM_001035.3(RYR2):c.4219G>C (p.Glu1407Gln)
|
rs1420999217
|
|
NM_001035.3(RYR2):c.4224T>C (p.Asp1408=)
|
rs1265244815
|
|
NM_001035.3(RYR2):c.4227C>T (p.Val1409=)
|
|
|
NM_001035.3(RYR2):c.4229T>C (p.Leu1410Pro)
|
rs794728734
|
|
NM_001035.3(RYR2):c.4238A>G (p.Asp1413Gly)
|
rs1060500146
|
|
NM_001035.3(RYR2):c.4238A>T (p.Asp1413Val)
|
rs1060500146
|
|
NM_001035.3(RYR2):c.4240C>T (p.Arg1414Trp)
|
rs868750680
|
|
NM_001035.3(RYR2):c.4242G>A (p.Arg1414=)
|
rs371748225
|
|
NM_001035.3(RYR2):c.4245T>A (p.Asp1415Glu)
|
rs1675234458
|
|
NM_001035.3(RYR2):c.4247A>G (p.Asp1416Gly)
|
rs1675234923
|
|
NM_001035.3(RYR2):c.4252G>C (p.Asp1418His)
|
|
|
NM_001035.3(RYR2):c.4262T>C (p.Met1421Thr)
|
rs2148446716
|
|
NM_001035.3(RYR2):c.4265A>C (p.Gln1422Pro)
|
rs2148446764
|
|
NM_001035.3(RYR2):c.4269G>A (p.Thr1423=)
|
rs1342902406
|
|
NM_001035.3(RYR2):c.4274C>A (p.Thr1425Lys)
|
rs761181641
|
|
NM_001035.3(RYR2):c.4275+7G>A
|
rs1573005697
|
|
NM_001035.3(RYR2):c.4275+8G>C
|
rs1573005723
|
|
NM_001035.3(RYR2):c.4275G>A (p.Thr1425=)
|
rs1488525254
|
|
NM_001035.3(RYR2):c.4276-13G>A
|
|
|
NM_001035.3(RYR2):c.4276-15C>G
|
|
|
NM_001035.3(RYR2):c.4276-17T>G
|
|
|
NM_001035.3(RYR2):c.4276-18G>A
|
|
|
NM_001035.3(RYR2):c.4276-19G>A
|
|
|
NM_001035.3(RYR2):c.4276-9T>C
|
rs1559081633
|
|
NM_001035.3(RYR2):c.4277A>G (p.Tyr1426Cys)
|
|
|
NM_001035.3(RYR2):c.427C>T (p.Leu143=)
|
|
|
NM_001035.3(RYR2):c.4286C>T (p.Ser1429Leu)
|
rs1675464523
|
|
NM_001035.3(RYR2):c.4294A>G (p.Ile1432Val)
|
rs769163639
|
|
NM_001035.3(RYR2):c.4302T>A (p.Pro1434=)
|
rs764119072
|
|
NM_001035.3(RYR2):c.4306C>A (p.Gln1436Lys)
|
|
|
NM_001035.3(RYR2):c.4318A>G (p.Asn1440Asp)
|
|
|
NM_001035.3(RYR2):c.431C>G (p.Ala144Gly)
|
rs1456012582
|
|
NM_001035.3(RYR2):c.4320T>C (p.Asn1440=)
|
rs1675468093
|
|
NM_001035.3(RYR2):c.4321G>A (p.Val1441Ile)
|
|
|
NM_001035.3(RYR2):c.4323C>T (p.Val1441=)
|
|
|
NM_001035.3(RYR2):c.4327G>A (p.Val1443Met)
|
rs1675469138
|
|
NM_001035.3(RYR2):c.4331G>T (p.Gly1444Val)
|
|
|
NM_001035.3(RYR2):c.4332C>T (p.Gly1444=)
|
|
|
NM_001035.3(RYR2):c.4352A>T (p.His1451Leu)
|
rs1675471793
|
|
NM_001035.3(RYR2):c.4357T>C (p.Tyr1453His)
|
rs1573013160
|
|
NM_001035.3(RYR2):c.4358A>G (p.Tyr1453Cys)
|
|
|
NM_001035.3(RYR2):c.4361A>G (p.Asp1454Gly)
|
rs752212017
|
|
NM_001035.3(RYR2):c.4368C>G (p.Gly1456=)
|
rs1057522920
|
|
NM_001035.3(RYR2):c.4374C>T (p.Asp1458=)
|
rs1163174459
|
|
NM_001035.3(RYR2):c.4375T>C (p.Leu1459=)
|
|
|
NM_001035.3(RYR2):c.4376T>C (p.Leu1459Ser)
|
rs1060500158
|
|
NM_001035.3(RYR2):c.4378G>C (p.Asp1460His)
|
|
|
NM_001035.3(RYR2):c.4380C>A (p.Asp1460Glu)
|
rs1675476028
|
|
NM_001035.3(RYR2):c.4381A>G (p.Arg1461Gly)
|
|
|
NM_001035.3(RYR2):c.4384G>A (p.Val1462Ile)
|
rs755547916
|
|
NM_001035.3(RYR2):c.4388G>A (p.Arg1463His)
|
rs753707154
|
|
NM_001035.3(RYR2):c.4391C>A (p.Thr1464Lys)
|
rs1010452511
|
|
NM_001035.3(RYR2):c.4391C>G (p.Thr1464Arg)
|
|
|
NM_001035.3(RYR2):c.4393G>A (p.Val1465Ile)
|
|
|
NM_001035.3(RYR2):c.4396A>G (p.Thr1466Ala)
|
rs1675479559
|
|
NM_001035.3(RYR2):c.43C>A (p.Arg15=)
|
|
|
NM_001035.3(RYR2):c.4405C>G (p.Leu1469Val)
|
rs2148458888
|
|
NM_001035.3(RYR2):c.4412A>G (p.Asp1471Gly)
|
|
|
NM_001035.3(RYR2):c.4413T>C (p.Asp1471=)
|
|
|
NM_001035.3(RYR2):c.441T>G (p.Val147=)
|
|
|
NM_001035.3(RYR2):c.4422A>G (p.Gly1474=)
|
|
|
NM_001035.3(RYR2):c.4424_4425del (p.Lys1475fs)
|
rs2148458967
|
|
NM_001035.3(RYR2):c.4430A>C (p.His1477Pro)
|
rs1461139776
|
|
NM_001035.3(RYR2):c.4430A>G (p.His1477Arg)
|
|
|
NM_001035.3(RYR2):c.4430A>T (p.His1477Leu)
|
|
|
NM_001035.3(RYR2):c.4431T>C (p.His1477=)
|
|
|
NM_001035.3(RYR2):c.4434A>C (p.Glu1478Asp)
|
|
|
NM_001035.3(RYR2):c.4436+10C>G
|
|
|
NM_001035.3(RYR2):c.4436+11C>T
|
|
|
NM_001035.3(RYR2):c.4436+12T>A
|
|
|
NM_001035.3(RYR2):c.4436+15A>C
|
|
|
NM_001035.3(RYR2):c.4436+15A>T
|
|
|
NM_001035.3(RYR2):c.4436+16T>C
|
rs1675484367
|
|
NM_001035.3(RYR2):c.4436+21dup
|
|
|
NM_001035.3(RYR2):c.4437-3_4437del
|
|
|
NM_001035.3(RYR2):c.444C>T (p.Gly148=)
|
rs1572035408
|
|
NM_001035.3(RYR2):c.4454G>A (p.Cys1485Tyr)
|
|
|
NM_001035.3(RYR2):c.4459A>G (p.Met1487Val)
|
rs1278512393
|
|
NM_001035.3(RYR2):c.4460T>C (p.Met1487Thr)
|
rs1675795160
|
|
NM_001035.3(RYR2):c.4463T>C (p.Val1488Ala)
|
|
|
NM_001035.3(RYR2):c.4467T>C (p.Cys1489=)
|
|
|
NM_001035.3(RYR2):c.4471G>C (p.Gly1491Arg)
|
rs1212392127
|
|
NM_001035.3(RYR2):c.4473T>G (p.Gly1491=)
|
|
|
NM_001035.3(RYR2):c.4475A>T (p.Glu1492Val)
|
|
|
NM_001035.3(RYR2):c.4476G>A (p.Glu1492=)
|
|
|
NM_001035.3(RYR2):c.4476G>C (p.Glu1492Asp)
|
|
|
NM_001035.3(RYR2):c.4478G>A (p.Ser1493Asn)
|
rs1675797021
|
|
NM_001035.3(RYR2):c.4485C>T (p.Ser1495=)
|
|
|
NM_001035.3(RYR2):c.4491G>T (p.Gly1497=)
|
rs2148474772
|
|
NM_001035.3(RYR2):c.4497A>T (p.Gly1499=)
|
rs1573023606
|
|
NM_001035.3(RYR2):c.44G>C (p.Arg15Pro)
|
rs865784613
|
|
NM_001035.3(RYR2):c.44_45insTGT (p.Arg15_Thr16insVal)
|
|
|
NM_001035.3(RYR2):c.4502A>G (p.Asn1501Ser)
|
rs2148474843
|
|
NM_001035.3(RYR2):c.4505A>G (p.Asn1502Ser)
|
rs769604342
|
|
NM_001035.3(RYR2):c.4513C>G (p.Leu1505Val)
|
rs1057518306
|
|
NM_001035.3(RYR2):c.4516G>C (p.Glu1506Gln)
|
|
|
NM_001035.3(RYR2):c.4518G>A (p.Glu1506=)
|
rs775280276
|
|
NM_001035.3(RYR2):c.4528G>A (p.Val1510Met)
|
rs2148475032
|
|
NM_001035.3(RYR2):c.4531G>T (p.Val1511Leu)
|
rs1298609322
|
|
NM_001035.3(RYR2):c.4541C>T (p.Ala1514Val)
|
|
|
NM_001035.3(RYR2):c.4545C>T (p.Ser1515=)
|
rs768227781
|
|
NM_001035.3(RYR2):c.4546G>A (p.Gly1516Arg)
|
rs1287904079
|
|
NM_001035.3(RYR2):c.4548G>A (p.Gly1516=)
|
rs1675807561
|
|
NM_001035.3(RYR2):c.4549C>T (p.Leu1517=)
|
|
|
NM_001035.3(RYR2):c.454G>A (p.Asp152Asn)
|
|
|
NM_001035.3(RYR2):c.4552C>T (p.Leu1518Phe)
|
|
|
NM_001035.3(RYR2):c.4566C>T (p.Ala1522=)
|
|
|
NM_001035.3(RYR2):c.4568A>G (p.Asn1523Ser)
|
|
|
NM_001035.3(RYR2):c.4569T>C (p.Asn1523=)
|
|
|
NM_001035.3(RYR2):c.4571G>A (p.Gly1524Asp)
|
rs1675809815
|
|
NM_001035.3(RYR2):c.4574A>C (p.Lys1525Thr)
|
|
|
NM_001035.3(RYR2):c.4586C>T (p.Thr1529Ile)
|
|
|
NM_001035.3(RYR2):c.4587A>C (p.Thr1529=)
|
rs373148393
|
|
NM_001035.3(RYR2):c.4596+10C>T
|
|
|
NM_001035.3(RYR2):c.4596+18A>G
|
|
|
NM_001035.3(RYR2):c.4596+3_4596+9del
|
rs878854157
|
|
NM_001035.3(RYR2):c.4596+5G>A
|
rs1453761148
|
|
NM_001035.3(RYR2):c.4596+7G>T
|
|
|
NM_001035.3(RYR2):c.4596+8G>A
|
|
|
NM_001035.3(RYR2):c.4597-11del
|
rs3841805
|
|
NM_001035.3(RYR2):c.4597-7A>G
|
|
|
NM_001035.3(RYR2):c.4597-8dup
|
|
|
NM_001035.3(RYR2):c.459C>T (p.Thr153=)
|
|
|
NM_001035.3(RYR2):c.4601A>G (p.Glu1534Gly)
|
|
|
NM_001035.3(RYR2):c.4604C>T (p.Pro1535Leu)
|
rs973392998
|
|
NM_001035.3(RYR2):c.4611A>G (p.Thr1537=)
|
rs1285176357
|
|
NM_001035.3(RYR2):c.4621C>T (p.Pro1541Ser)
|
|
|
NM_001035.3(RYR2):c.4623T>C (p.Pro1541=)
|
rs2148510937
|
|
NM_001035.3(RYR2):c.4625C>A (p.Ala1542Glu)
|
|
|
NM_001035.3(RYR2):c.4625C>T (p.Ala1542Val)
|
|
|
NM_001035.3(RYR2):c.463+13T>G
|
|
|
NM_001035.3(RYR2):c.463+19G>A
|
|
|
NM_001035.3(RYR2):c.463+6C>A
|
rs397516533
|
|
NM_001035.3(RYR2):c.464-10A>G
|
rs1257588740
|
|
NM_001035.3(RYR2):c.464-12G>T
|
rs766779504
|
|
NM_001035.3(RYR2):c.464-1G>A
|
|
|
NM_001035.3(RYR2):c.464-6C>T
|
|
|
NM_001035.3(RYR2):c.464-9_464-8delinsCC
|
rs1572045142
|
|
NM_001035.3(RYR2):c.4641T>C (p.Ala1547=)
|
|
|
NM_001035.3(RYR2):c.4644A>G (p.Thr1548=)
|
rs865947296
|
|
NM_001035.3(RYR2):c.4648C>T (p.Pro1550Ser)
|
rs1553518591
|
|
NM_001035.3(RYR2):c.464G>A (p.Gly155Glu)
|
rs1060500152
|
|
NM_001035.3(RYR2):c.4659C>T (p.Phe1553=)
|
rs767900430
|
|
NM_001035.3(RYR2):c.4662G>A (p.Gln1554=)
|
rs2148511200
|
|
NM_001035.3(RYR2):c.4664T>A (p.Phe1555Tyr)
|
rs1676563735
|
|
NM_001035.3(RYR2):c.4668G>T (p.Glu1556Asp)
|
rs370332700
|
|
NM_001035.3(RYR2):c.4669T>A (p.Leu1557Met)
|
rs947233100
|
|
NM_001035.3(RYR2):c.4669T>C (p.Leu1557=)
|
rs947233100
|
|
NM_001035.3(RYR2):c.4669T>G (p.Leu1557Val)
|
|
|
NM_001035.3(RYR2):c.4674A>T (p.Gly1558=)
|
|
|
NM_001035.3(RYR2):c.4678A>G (p.Ile1560Val)
|
|
|
NM_001035.3(RYR2):c.4683+12T>C
|
|
|
NM_001035.3(RYR2):c.4683+16C>G
|
|
|
NM_001035.3(RYR2):c.4683+20G>T
|
|
|
NM_001035.3(RYR2):c.4683+7A>C
|
|
|
NM_001035.3(RYR2):c.4683+8A>C
|
|
|
NM_001035.3(RYR2):c.4683+8A>G
|
|
|
NM_001035.3(RYR2):c.4684-16C>G
|
|
|
NM_001035.3(RYR2):c.4684-17G>A
|
|
|
NM_001035.3(RYR2):c.4684-3T>C
|
|
|
NM_001035.3(RYR2):c.4684-5G>A
|
rs7522981
|
|
NM_001035.3(RYR2):c.4684-5G>T
|
rs7522981
|
|
NM_001035.3(RYR2):c.4684-9A>C
|
|
|
NM_001035.3(RYR2):c.4688T>C (p.Val1563Ala)
|
|
|
NM_001035.3(RYR2):c.4693C>G (p.Pro1565Ala)
|
rs778783933
|
|
NM_001035.3(RYR2):c.4703C>T (p.Ala1568Val)
|
rs955021407
|
|
NM_001035.3(RYR2):c.4704G>A (p.Ala1568=)
|
rs1376915958
|
|
NM_001035.3(RYR2):c.4713C>A (p.Phe1571Leu)
|
rs2148572561
|
|
NM_001035.3(RYR2):c.4714A>G (p.Lys1572Glu)
|
|
|
NM_001035.3(RYR2):c.4718G>A (p.Ser1573Asn)
|
rs776893934
|
|
NM_001035.3(RYR2):c.471TTG[1] (p.Cys158del)
|
rs2149792684
|
|
NM_001035.3(RYR2):c.4721A>G (p.Glu1574Gly)
|
|
|
NM_001035.3(RYR2):c.4728G>A (p.Lys1576=)
|
rs2148572687
|
|
NM_001035.3(RYR2):c.4731C>T (p.Asn1577=)
|
rs1677763044
|
|
NM_001035.3(RYR2):c.4733C>T (p.Pro1578Leu)
|
|
|
NM_001035.3(RYR2):c.4734C>A (p.Pro1578=)
|
rs201880756
|
|
NM_001035.3(RYR2):c.4734C>G (p.Pro1578=)
|
rs201880756
|
|
NM_001035.3(RYR2):c.4734C>T (p.Pro1578=)
|
rs201880756
|
|
NM_001035.3(RYR2):c.4735G>C (p.Val1579Leu)
|
rs763389778
|
|
NM_001035.3(RYR2):c.4738C>T (p.Pro1580Ser)
|
rs1677765906
|
|
NM_001035.3(RYR2):c.4739C>T (p.Pro1580Leu)
|
rs755303612
|
|
NM_001035.3(RYR2):c.4740G>T (p.Pro1580=)
|
rs79811945
|
|
NM_001035.3(RYR2):c.4745G>C (p.Cys1582Ser)
|
|
|
NM_001035.3(RYR2):c.4746C>T (p.Cys1582=)
|
|
|
NM_001035.3(RYR2):c.4747C>G (p.Pro1583Ala)
|
|
|
NM_001035.3(RYR2):c.4747_4748insT (p.Pro1583fs)
|
rs1677768338
|
|
NM_001035.3(RYR2):c.4748C>T (p.Pro1583Leu)
|
rs1421328710
|
|
NM_001035.3(RYR2):c.4749C>T (p.Pro1583=)
|
rs914743349
|
|
NM_001035.3(RYR2):c.474T>C (p.Cys158=)
|
|
|
NM_001035.3(RYR2):c.4750C>G (p.Pro1584Ala)
|
rs745824179
|
|
NM_001035.3(RYR2):c.4750C>T (p.Pro1584Ser)
|
|
|
NM_001035.3(RYR2):c.4751C>A (p.Pro1584Gln)
|
|
|
NM_001035.3(RYR2):c.4751C>T (p.Pro1584Leu)
|
rs772098320
|
|
NM_001035.3(RYR2):c.4751dup (p.Arg1585fs)
|
|
|
NM_001035.3(RYR2):c.4755C>G (p.Arg1585=)
|
|
|
NM_001035.3(RYR2):c.4756C>T (p.Leu1586Phe)
|
rs1677771351
|
|
NM_001035.3(RYR2):c.4762G>A (p.Val1588Met)
|
|
|
NM_001035.3(RYR2):c.4766A>G (p.Gln1589Arg)
|
|
|
NM_001035.3(RYR2):c.4770C>T (p.Phe1590=)
|
rs397516536
|
|
NM_001035.3(RYR2):c.4771C>T (p.Leu1591=)
|
|
|
NM_001035.3(RYR2):c.4773G>A (p.Leu1591=)
|
|
|
NM_001035.3(RYR2):c.4781T>C (p.Val1594Ala)
|
|
|
NM_001035.3(RYR2):c.4783C>T (p.Leu1595=)
|
|
|
NM_001035.3(RYR2):c.4790G>A (p.Ser1597Asn)
|
rs1481918213
|
|
NM_001035.3(RYR2):c.4797G>A (p.Met1599Ile)
|
rs1217016031
|
|
NM_001035.3(RYR2):c.4799C>T (p.Pro1600Leu)
|
rs759952370
|
|
NM_001035.3(RYR2):c.47_48del (p.Thr16fs)
|
|
|
NM_001035.3(RYR2):c.48+10G>A
|
|
|
NM_001035.3(RYR2):c.48+13C>T
|
rs1353592562
|
|
NM_001035.3(RYR2):c.48+15T>C
|
|
|
NM_001035.3(RYR2):c.48+19G>T
|
|
|
NM_001035.3(RYR2):c.48+2T>C
|
|
|
NM_001035.3(RYR2):c.48+6C>A
|
|
|
NM_001035.3(RYR2):c.48+7G>T
|
rs886567477
|
|
NM_001035.3(RYR2):c.48+8C>T
|
|
|
NM_001035.3(RYR2):c.48+9C>T
|
|
|
NM_001035.3(RYR2):c.4803C>G (p.Asn1601Lys)
|
|
|
NM_001035.3(RYR2):c.4804C>T (p.Gln1602Ter)
|
|
|
NM_001035.3(RYR2):c.4818A>G (p.Val1606=)
|
rs1559110553
|
|
NM_001035.3(RYR2):c.4821T>C (p.Asp1607=)
|
rs868510940
|
|
NM_001035.3(RYR2):c.4822G>C (p.Val1608Leu)
|
rs1677780778
|
|
NM_001035.3(RYR2):c.483C>G (p.Thr161=)
|
|
|
NM_001035.3(RYR2):c.4840C>A (p.Arg1614Ser)
|
|
|
NM_001035.3(RYR2):c.4841G>T (p.Arg1614Leu)
|
rs746943081
|
|
NM_001035.3(RYR2):c.4843C>T (p.Gln1615Ter)
|
|
|
NM_001035.3(RYR2):c.4848C>T (p.Gly1616=)
|
rs1308711902
|
|
NM_001035.3(RYR2):c.4854G>T (p.Leu1618Phe)
|
|
|
NM_001035.3(RYR2):c.4864T>C (p.Leu1622=)
|
rs1255793710
|
|
NM_001035.3(RYR2):c.4868A>G (p.Asp1623Gly)
|
rs1421802252
|
|
NM_001035.3(RYR2):c.4880T>A (p.Phe1627Tyr)
|
rs2148574202
|
|
NM_001035.3(RYR2):c.4885T>C (p.Ser1629Pro)
|
rs1435195421
|
|
NM_001035.3(RYR2):c.48T>C (p.Thr16=)
|
|
|
NM_001035.3(RYR2):c.49-10C>G
|
|
|
NM_001035.3(RYR2):c.49-11C>T
|
rs2149346688
|
|
NM_001035.3(RYR2):c.49-12C>T
|
|
|
NM_001035.3(RYR2):c.49-14C>G
|
|
|
NM_001035.3(RYR2):c.49-15T>C
|
|
|
NM_001035.3(RYR2):c.49-16_49-13del
|
|
|
NM_001035.3(RYR2):c.49-17T>C
|
|
|
NM_001035.3(RYR2):c.49-20C>T
|
|
|
NM_001035.3(RYR2):c.49-4G>A
|
rs750038523
|
|
NM_001035.3(RYR2):c.49-6T>C
|
rs2149346729
|
|
NM_001035.3(RYR2):c.49-9C>G
|
rs1057522958
|
|
NM_001035.3(RYR2):c.4902G>A (p.Glu1634=)
|
rs767794262
|
|
NM_001035.3(RYR2):c.4909A>G (p.Arg1637Gly)
|
|
|
NM_001035.3(RYR2):c.490C>T (p.Pro164Ser)
|
|
|
NM_001035.3(RYR2):c.4910+10A>G
|
|
|
NM_001035.3(RYR2):c.4910+11G>T
|
|
|
NM_001035.3(RYR2):c.4910+12T>C
|
|
|
NM_001035.3(RYR2):c.4910+1G>A
|
|
|
NM_001035.3(RYR2):c.4910+3C>G
|
rs757198624
|
|
NM_001035.3(RYR2):c.4910+3C>T
|
|
|
NM_001035.3(RYR2):c.4910+6C>T
|
rs1553521040
|
|
NM_001035.3(RYR2):c.4910+9C>T
|
rs2148574631
|
|
NM_001035.3(RYR2):c.4911-10C>T
|
rs762641238
|
|
NM_001035.3(RYR2):c.4911-14C>T
|
|
|
NM_001035.3(RYR2):c.4911-16C>A
|
|
|
NM_001035.3(RYR2):c.4911-18C>T
|
|
|
NM_001035.3(RYR2):c.4911-19_4911-18insT
|
|
|
NM_001035.3(RYR2):c.4911-20C>T
|
|
|
NM_001035.3(RYR2):c.4911-4A>G
|
|
|
NM_001035.3(RYR2):c.4911-8T>C
|
rs1678192688
|
|
NM_001035.3(RYR2):c.4911-8T>G
|
|
|
NM_001035.3(RYR2):c.4912T>A (p.Ser1638Thr)
|
rs794728739
|
|
NM_001035.3(RYR2):c.4913del (p.Ser1638fs)
|
rs1573121929
|
|
NM_001035.3(RYR2):c.4914T>C (p.Ser1638=)
|
rs2148593032
|
|
NM_001035.3(RYR2):c.4914T>G (p.Ser1638=)
|
|
|
NM_001035.3(RYR2):c.4919A>G (p.Asp1640Gly)
|
|
|
NM_001035.3(RYR2):c.4921A>T (p.Ile1641Phe)
|
|
|
NM_001035.3(RYR2):c.4923C>A (p.Ile1641=)
|
|
|
NM_001035.3(RYR2):c.4929G>A (p.Glu1643=)
|
rs1573122061
|
|
NM_001035.3(RYR2):c.4931T>C (p.Leu1644Ser)
|
rs2148593157
|
|
NM_001035.3(RYR2):c.4932G>C (p.Leu1644Phe)
|
|
|
NM_001035.3(RYR2):c.4933A>G (p.Thr1645Ala)
|
|
|
NM_001035.3(RYR2):c.4935dup (p.Glu1646fs)
|
|
|
NM_001035.3(RYR2):c.4959T>G (p.Phe1653Leu)
|
|
|
NM_001035.3(RYR2):c.4964A>G (p.Tyr1655Cys)
|
rs1678200182
|
|
NM_001035.3(RYR2):c.4972C>T (p.Leu1658Phe)
|
rs767540663
|
|
NM_001035.3(RYR2):c.4973T>C (p.Leu1658Pro)
|
rs2148593468
|
|
NM_001035.3(RYR2):c.4974C>T (p.Leu1658=)
|
rs2148593486
|
|
NM_001035.3(RYR2):c.4976G>A (p.Arg1659Gln)
|
rs1281673231
|
|
NM_001035.3(RYR2):c.497C>T (p.Ser166Phe)
|
|
|
NM_001035.3(RYR2):c.4980C>A (p.Leu1660=)
|
|
|
NM_001035.3(RYR2):c.4989C>A (p.Ala1663=)
|
rs147060179
|
|
NM_001035.3(RYR2):c.4990G>A (p.Val1664Ile)
|
rs749434532
|
|
NM_001035.3(RYR2):c.4990G>T (p.Val1664Phe)
|
rs749434532
|
|
NM_001035.3(RYR2):c.4991T>A (p.Val1664Asp)
|
rs878854158
|
|
NM_001035.3(RYR2):c.5011C>A (p.Arg1671=)
|
|
|
NM_001035.3(RYR2):c.5012G>A (p.Arg1671Gln)
|
rs777091366
|
|
NM_001035.3(RYR2):c.5013G>T (p.Arg1671=)
|
|
|
NM_001035.3(RYR2):c.5017G>A (p.Ala1673Thr)
|
rs2148593799
|
|
NM_001035.3(RYR2):c.5018C>T (p.Ala1673Val)
|
rs2148593806
|
|
NM_001035.3(RYR2):c.5023G>T (p.Ala1675Ser)
|
rs2148593845
|
|
NM_001035.3(RYR2):c.5025C>A (p.Ala1675=)
|
|
|
NM_001035.3(RYR2):c.5033G>A (p.Ser1678Asn)
|
rs1678207715
|
|
NM_001035.3(RYR2):c.5037T>C (p.His1679=)
|
rs2148593927
|
|
NM_001035.3(RYR2):c.5047C>G (p.Pro1683Ala)
|
|
|
NM_001035.3(RYR2):c.5047C>T (p.Pro1683Ser)
|
rs766933683
|
|
NM_001035.3(RYR2):c.5060A>C (p.Tyr1687Ser)
|
rs760479688
|
|
NM_001035.3(RYR2):c.506G>A (p.Arg169Gln)
|
rs397516539
|
|
NM_001035.3(RYR2):c.5070G>A (p.Glu1690=)
|
rs1435941641
|
|
NM_001035.3(RYR2):c.5080A>G (p.Met1694Val)
|
rs1486465466
|
|
NM_001035.3(RYR2):c.5081T>C (p.Met1694Thr)
|
|
|
NM_001035.3(RYR2):c.5082G>T (p.Met1694Ile)
|
|
|
NM_001035.3(RYR2):c.5086G>C (p.Gly1696Arg)
|
|
|
NM_001035.3(RYR2):c.508T>A (p.Ser170Thr)
|
rs1558712336
|
|
NM_001035.3(RYR2):c.5091G>C (p.Leu1697Phe)
|
|
|
NM_001035.3(RYR2):c.50A>G (p.Asp17Gly)
|
|
|
NM_001035.3(RYR2):c.5103C>G (p.Gly1701=)
|
|
|
NM_001035.3(RYR2):c.5105A>G (p.Tyr1702Cys)
|
|
|
NM_001035.3(RYR2):c.510A>C (p.Ser170=)
|
rs1057523213
|
|
NM_001035.3(RYR2):c.5112C>T (p.Asp1704=)
|
|
|
NM_001035.3(RYR2):c.5127C>A (p.Ile1709=)
|
rs1553522097
|
|
NM_001035.3(RYR2):c.5148T>C (p.Thr1716=)
|
|
|
NM_001035.3(RYR2):c.514G>A (p.Gly172Arg)
|
rs1701129738
|
|
NM_001035.3(RYR2):c.5152A>G (p.Arg1718Gly)
|
|
|
NM_001035.3(RYR2):c.5154G>A (p.Arg1718=)
|
rs114534505
|
|
NM_001035.3(RYR2):c.5154G>C (p.Arg1718Ser)
|
rs114534505
|
|
NM_001035.3(RYR2):c.5154G>T (p.Arg1718Ser)
|
|
|
NM_001035.3(RYR2):c.515G>A (p.Gly172Glu)
|
rs1553426678
|
|
NM_001035.3(RYR2):c.5168A>G (p.Asn1723Ser)
|
rs2148594785
|
|
NM_001035.3(RYR2):c.516A>T (p.Gly172=)
|
|
|
NM_001035.3(RYR2):c.5170G>A (p.Glu1724Lys)
|
rs794728740
|
|
NM_001035.3(RYR2):c.5171A>T (p.Glu1724Val)
|
|
|
NM_001035.3(RYR2):c.5172G>A (p.Glu1724=)
|
|
|
NM_001035.3(RYR2):c.5176A>C (p.Ile1726Leu)
|
|
|
NM_001035.3(RYR2):c.5176A>G (p.Ile1726Val)
|
rs764065333
|
|
NM_001035.3(RYR2):c.5186T>A (p.Met1729Lys)
|
|
|
NM_001035.3(RYR2):c.5190G>A (p.Thr1730=)
|
rs397516541
|
|
NM_001035.3(RYR2):c.5190G>T (p.Thr1730=)
|
rs397516541
|
|
NM_001035.3(RYR2):c.5193G>A (p.Glu1731=)
|
rs2148594968
|
|
NM_001035.3(RYR2):c.5199G>C (p.Thr1733=)
|
|
|
NM_001035.3(RYR2):c.5203A>G (p.Ser1735Gly)
|
|
|
NM_001035.3(RYR2):c.5208C>A (p.Ile1736=)
|
rs1678226437
|
|
NM_001035.3(RYR2):c.5209A>C (p.Thr1737Pro)
|
|
|
NM_001035.3(RYR2):c.5210C>G (p.Thr1737Ser)
|
rs1172292367
|
|
NM_001035.3(RYR2):c.5215T>C (p.Phe1739Leu)
|
rs2148595163
|
|
NM_001035.3(RYR2):c.5220T>G (p.Pro1740=)
|
rs886046269
|
|
NM_001035.3(RYR2):c.5226G>C (p.Glu1742Asp)
|
|
|
NM_001035.3(RYR2):c.5227A>G (p.Asn1743Asp)
|
|
|
NM_001035.3(RYR2):c.5239G>A (p.Gly1747Ser)
|
rs1553522190
|
|
NM_001035.3(RYR2):c.5241C>G (p.Gly1747=)
|
rs533362755
|
|
NM_001035.3(RYR2):c.5241C>T (p.Gly1747=)
|
|
|
NM_001035.3(RYR2):c.5248G>A (p.Gly1750Arg)
|
rs2148595384
|
|
NM_001035.3(RYR2):c.5251A>T (p.Ile1751Phe)
|
rs1573124154
|
|
NM_001035.3(RYR2):c.5256C>T (p.Gly1752=)
|
rs1350989279
|
|
NM_001035.3(RYR2):c.5259C>T (p.Leu1753=)
|
rs775185381
|
|
NM_001035.3(RYR2):c.525A>G (p.Val175=)
|
|
|
NM_001035.3(RYR2):c.5266T>G (p.Ser1756Ala)
|
rs1038625350
|
|
NM_001035.3(RYR2):c.526C>T (p.Arg176Ter)
|
|
|
NM_001035.3(RYR2):c.5270T>C (p.Leu1757Pro)
|
|
|
NM_001035.3(RYR2):c.5279G>C (p.Arg1760Pro)
|
rs765106198
|
|
NM_001035.3(RYR2):c.527G>A (p.Arg176Gln)
|
rs794728708
|
|
NM_001035.3(RYR2):c.5285A>C (p.Gln1762Pro)
|
rs772846797
|
|
NM_001035.3(RYR2):c.5285A>G (p.Gln1762Arg)
|
|
|
NM_001035.3(RYR2):c.5288T>C (p.Phe1763Ser)
|
rs1057518518
|
|
NM_001035.3(RYR2):c.5291C>T (p.Ser1764Phe)
|
rs1678236675
|
|
NM_001035.3(RYR2):c.5292C>T (p.Ser1764=)
|
|
|
NM_001035.3(RYR2):c.5295C>T (p.Ser1765=)
|
|
|
NM_001035.3(RYR2):c.5296C>T (p.Pro1766Ser)
|
rs1573124513
|
|
NM_001035.3(RYR2):c.5298C>G (p.Pro1766=)
|
|
|
NM_001035.3(RYR2):c.5299A>G (p.Ser1767Gly)
|
rs751819202
|
|
NM_001035.3(RYR2):c.5301T>C (p.Ser1767=)
|
|
|
NM_001035.3(RYR2):c.5309G>A (p.Ser1770Asn)
|
rs1678239780
|
|
NM_001035.3(RYR2):c.530T>G (p.Val177Gly)
|
|
|
NM_001035.3(RYR2):c.5311A>G (p.Ile1771Val)
|
rs1678240011
|
|
NM_001035.3(RYR2):c.5315G>A (p.Ser1772Asn)
|
rs1559116458
|
|
NM_001035.3(RYR2):c.5315G>T (p.Ser1772Ile)
|
rs1559116458
|
|
NM_001035.3(RYR2):c.5320G>A (p.Glu1774Lys)
|
|
|
NM_001035.3(RYR2):c.5321A>T (p.Glu1774Val)
|
|
|
NM_001035.3(RYR2):c.5332T>G (p.Tyr1778Asp)
|
rs2148595965
|
|
NM_001035.3(RYR2):c.5334C>T (p.Tyr1778=)
|
rs756648811
|
|
NM_001035.3(RYR2):c.5340A>G (p.Pro1780=)
|
rs749662039
|
|
NM_001035.3(RYR2):c.5341G>A (p.Glu1781Lys)
|
|
|
NM_001035.3(RYR2):c.5356A>G (p.Ile1786Val)
|
|
|
NM_001035.3(RYR2):c.5361C>A (p.Leu1787=)
|
|
|
NM_001035.3(RYR2):c.5374A>T (p.Ile1792Leu)
|
rs878854159
|
|
NM_001035.3(RYR2):c.537T>A (p.Asp179Glu)
|
rs1362710187
|
|
NM_001035.3(RYR2):c.5384T>G (p.Leu1795Arg)
|
|
|
NM_001035.3(RYR2):c.5395G>A (p.Val1799Ile)
|
|
|
NM_001035.3(RYR2):c.5406C>G (p.Gly1802=)
|
|
|
NM_001035.3(RYR2):c.5410C>T (p.Leu1804Phe)
|
rs367609940
|
|
NM_001035.3(RYR2):c.5414A>G (p.His1805Arg)
|
rs759774382
|
|
NM_001035.3(RYR2):c.5415T>C (p.His1805=)
|
rs2148596471
|
|
NM_001035.3(RYR2):c.5417C>T (p.Ala1806Val)
|
rs1415713582
|
|
NM_001035.3(RYR2):c.5418C>G (p.Ala1806=)
|
|
|
NM_001035.3(RYR2):c.5419C>A (p.Arg1807=)
|
|
|
NM_001035.3(RYR2):c.5423A>G (p.Asp1808Gly)
|
|
|
NM_001035.3(RYR2):c.5433del (p.Thr1813fs)
|
rs1678252821
|
|
NM_001035.3(RYR2):c.5437A>G (p.Thr1813Ala)
|
|
|
NM_001035.3(RYR2):c.5437A>T (p.Thr1813Ser)
|
|
|
NM_001035.3(RYR2):c.543C>T (p.Leu181=)
|
rs2149792951
|
|
NM_001035.3(RYR2):c.5441C>T (p.Thr1814Ile)
|
|
|
NM_001035.3(RYR2):c.544A>G (p.Ile182Val)
|
rs2149792958
|
|
NM_001035.3(RYR2):c.5451C>G (p.Leu1817=)
|
|
|
NM_001035.3(RYR2):c.5462T>C (p.Leu1821Pro)
|
|
|
NM_001035.3(RYR2):c.5469G>A (p.Lys1823=)
|
|
|
NM_001035.3(RYR2):c.5473T>C (p.Phe1825Leu)
|
|
|
NM_001035.3(RYR2):c.5474T>C (p.Phe1825Ser)
|
|
|
NM_001035.3(RYR2):c.5475C>T (p.Phe1825=)
|
|
|
NM_001035.3(RYR2):c.5477A>G (p.Tyr1826Cys)
|
|
|
NM_001035.3(RYR2):c.5480C>A (p.Thr1827Asn)
|
rs968046365
|
|
NM_001035.3(RYR2):c.5485C>G (p.Leu1829Val)
|
rs876657991
|
|
NM_001035.3(RYR2):c.5485C>T (p.Leu1829=)
|
|
|
NM_001035.3(RYR2):c.5487G>A (p.Leu1829=)
|
rs371250741
|
|
NM_001035.3(RYR2):c.5507A>G (p.Asn1836Ser)
|
rs1678261343
|
|
NM_001035.3(RYR2):c.5512G>A (p.Asp1838Asn)
|
|
|
NM_001035.3(RYR2):c.5512G>T (p.Asp1838Tyr)
|
rs1559117015
|
|
NM_001035.3(RYR2):c.5519A>G (p.Lys1840Arg)
|
|
|
NM_001035.3(RYR2):c.551_554del (p.Val184fs)
|
|
|
NM_001035.3(RYR2):c.5521C>G (p.His1841Asp)
|
rs1678263302
|
|
NM_001035.3(RYR2):c.5525T>C (p.Ile1842Thr)
|
rs1168483242
|
|
NM_001035.3(RYR2):c.5564C>A (p.Ala1855Asp)
|
|
|
NM_001035.3(RYR2):c.5580G>A (p.Glu1860=)
|
|
|
NM_001035.3(RYR2):c.5589G>A (p.Thr1863=)
|
rs778971089
|
|
NM_001035.3(RYR2):c.5594A>G (p.Glu1865Gly)
|
rs2148597888
|
|
NM_001035.3(RYR2):c.5601G>T (p.Glu1867Asp)
|
|
|
NM_001035.3(RYR2):c.5611G>T (p.Asp1871Tyr)
|
rs1678273557
|
|
NM_001035.3(RYR2):c.5612A>G (p.Asp1871Gly)
|
rs895322404
|
|
NM_001035.3(RYR2):c.5616T>A (p.Asp1872Glu)
|
|
|
NM_001035.3(RYR2):c.5616T>C (p.Asp1872=)
|
rs765786213
|
|
NM_001035.3(RYR2):c.5635G>A (p.Gly1879Ser)
|
rs1678277050
|
|
NM_001035.3(RYR2):c.5639A>T (p.Glu1880Val)
|
rs727504792
|
|
NM_001035.3(RYR2):c.5640G>A (p.Glu1880=)
|
|
|
NM_001035.3(RYR2):c.5651A>G (p.Lys1884Arg)
|
|
|
NM_001035.3(RYR2):c.5652G>T (p.Lys1884Asn)
|
rs202117250
|
|
NM_001035.3(RYR2):c.5652_5653delinsTT (p.Lys1884_Gly1885delinsAsnTrp)
|
rs2148598407
|
|
NM_001035.3(RYR2):c.5653G>C (p.Gly1885Arg)
|
rs200197527
|
|
NM_001035.3(RYR2):c.5654G>C (p.Gly1885Ala)
|
rs41315858
|
|
NM_001035.3(RYR2):c.5657G>C (p.Gly1886Ala)
|
|
|
NM_001035.3(RYR2):c.5658C>A (p.Gly1886=)
|
rs745731983
|
|
NM_001035.3(RYR2):c.5660A>C (p.Lys1887Thr)
|
rs1415979370
|
|
NM_001035.3(RYR2):c.5660A>T (p.Lys1887Met)
|
|
|
NM_001035.3(RYR2):c.5662C>A (p.Arg1888=)
|
|
|
NM_001035.3(RYR2):c.5663G>A (p.Arg1888Gln)
|
rs869025511
|
|
NM_001035.3(RYR2):c.5663G>T (p.Arg1888Leu)
|
rs869025511
|
|
NM_001035.3(RYR2):c.5668A>G (p.Lys1890Glu)
|
|
|
NM_001035.3(RYR2):c.5670G>A (p.Lys1890=)
|
rs779847743
|
|
NM_001035.3(RYR2):c.5675G>A (p.Gly1892Asp)
|
|
|
NM_001035.3(RYR2):c.567A>C (p.Glu189Asp)
|
|
|
NM_001035.3(RYR2):c.567A>T (p.Glu189Asp)
|
rs1415931588
|
|
NM_001035.3(RYR2):c.5685A>G (p.Gln1895=)
|
|
|
NM_001035.3(RYR2):c.5692C>T (p.Leu1898=)
|
|
|
NM_001035.3(RYR2):c.5703A>G (p.Pro1901=)
|
rs1573127804
|
|
NM_001035.3(RYR2):c.570G>A (p.Arg190=)
|
|
|
NM_001035.3(RYR2):c.570G>T (p.Arg190Ser)
|
rs397516544
|
|
NM_001035.3(RYR2):c.5711T>C (p.Leu1904Ser)
|
rs1678290289
|
|
NM_001035.3(RYR2):c.5715+10A>G
|
|
|
NM_001035.3(RYR2):c.5715+11C>G
|
|
|
NM_001035.3(RYR2):c.5716-12A>T
|
|
|
NM_001035.3(RYR2):c.5716-18T>C
|
|
|
NM_001035.3(RYR2):c.5716-3T>A
|
rs1573142057
|
|
NM_001035.3(RYR2):c.5716-5C>G
|
|
|
NM_001035.3(RYR2):c.5716-6T>C
|
|
|
NM_001035.3(RYR2):c.5716-9G>A
|
|
|
NM_001035.3(RYR2):c.5721C>T (p.Cys1907=)
|
rs769877200
|
|
NM_001035.3(RYR2):c.5723T>C (p.Leu1908Pro)
|
|
|
NM_001035.3(RYR2):c.5728C>A (p.Leu1910Ile)
|
|
|
NM_001035.3(RYR2):c.5730T>A (p.Leu1910=)
|
|
|
NM_001035.3(RYR2):c.5733G>A (p.Gln1911=)
|
|
|
NM_001035.3(RYR2):c.5740T>C (p.Cys1914Arg)
|
|
|
NM_001035.3(RYR2):c.574T>G (p.Leu192Val)
|
|
|
NM_001035.3(RYR2):c.5752G>T (p.Val1918Phe)
|
rs912197043
|
|
NM_001035.3(RYR2):c.576+18del
|
|
|
NM_001035.3(RYR2):c.576+1G>T
|
|
|
NM_001035.3(RYR2):c.576+9G>C
|
|
|
NM_001035.3(RYR2):c.5764A>G (p.Ile1922Val)
|
rs374874044
|
|
NM_001035.3(RYR2):c.5764A>T (p.Ile1922Leu)
|
|
|
NM_001035.3(RYR2):c.577-14del
|
|
|
NM_001035.3(RYR2):c.577-5T>C
|
rs1237631846
|
|
NM_001035.3(RYR2):c.5771C>G (p.Ala1924Gly)
|
rs776358808
|
|
NM_001035.3(RYR2):c.5773A>G (p.Ile1925Val)
|
rs1678588295
|
|
NM_001035.3(RYR2):c.5776G>A (p.Val1926Ile)
|
|
|
NM_001035.3(RYR2):c.5779G>A (p.Ala1927Thr)
|
|
|
NM_001035.3(RYR2):c.5781C>T (p.Ala1927=)
|
rs2148613866
|
|
NM_001035.3(RYR2):c.57A>G (p.Glu19=)
|
|
|
NM_001035.3(RYR2):c.5805G>C (p.Lys1935Asn)
|
|
|
NM_001035.3(RYR2):c.5806C>A (p.Leu1936Ile)
|
rs2148613988
|
|
NM_001035.3(RYR2):c.5814C>T (p.Asp1938=)
|
|
|
NM_001035.3(RYR2):c.5821C>T (p.Arg1941Cys)
|
rs754811291
|
|
NM_001035.3(RYR2):c.5836G>A (p.Glu1946Lys)
|
rs267598436
|
|
NM_001035.3(RYR2):c.5838A>C (p.Glu1946Asp)
|
rs1485391345
|
|
NM_001035.3(RYR2):c.5838A>G (p.Glu1946=)
|
rs1485391345
|
|
NM_001035.3(RYR2):c.5841C>T (p.Val1947=)
|
rs1487785475
|
|
NM_001035.3(RYR2):c.5846A>G (p.Gln1949Arg)
|
|
|
NM_001035.3(RYR2):c.5857A>C (p.Met1953Leu)
|
rs1057518592
|
|
NM_001035.3(RYR2):c.5858T>C (p.Met1953Thr)
|
|
|
NM_001035.3(RYR2):c.5875G>A (p.Ala1959Thr)
|
|
|
NM_001035.3(RYR2):c.5877C>T (p.Ala1959=)
|
|
|
NM_001035.3(RYR2):c.5880G>A (p.Arg1960=)
|
|
|
NM_001035.3(RYR2):c.5882A>G (p.Lys1961Arg)
|
|
|
NM_001035.3(RYR2):c.5895del (p.Phe1965fs)
|
|
|
NM_001035.3(RYR2):c.5898A>G (p.Arg1966=)
|
|
|
NM_001035.3(RYR2):c.5899T>C (p.Ser1967Pro)
|
|
|
NM_001035.3(RYR2):c.5901A>C (p.Ser1967=)
|
rs1553524372
|
|
NM_001035.3(RYR2):c.5902C>A (p.Pro1968Thr)
|
|
|
NM_001035.3(RYR2):c.5917-12T>C
|
rs746414195
|
|
NM_001035.3(RYR2):c.591C>A (p.Gly197=)
|
rs1572092032
|
|
NM_001035.3(RYR2):c.5920A>C (p.Asn1974His)
|
rs1450235463
|
|
NM_001035.3(RYR2):c.5920A>G (p.Asn1974Asp)
|
|
|
NM_001035.3(RYR2):c.5922T>C (p.Asn1974=)
|
rs747433387
|
|
NM_001035.3(RYR2):c.5925G>A (p.Met1975Ile)
|
rs1060500165
|
|
NM_001035.3(RYR2):c.5940G>C (p.Lys1980Asn)
|
|
|
NM_001035.3(RYR2):c.5944G>C (p.Asp1982His)
|
|
|
NM_001035.3(RYR2):c.594C>A (p.Asn198Lys)
|
|
|
NM_001035.3(RYR2):c.595G>A (p.Gly199Ser)
|
rs886046261
|
|
NM_001035.3(RYR2):c.5964T>C (p.Cys1988=)
|
|
|
NM_001035.3(RYR2):c.596G>T (p.Gly199Val)
|
rs754911836
|
|
NM_001035.3(RYR2):c.5980G>T (p.Asp1994Tyr)
|
|
|
NM_001035.3(RYR2):c.5984A>T (p.Gln1995Leu)
|
rs2148649347
|
|
NM_001035.3(RYR2):c.5989T>C (p.Leu1997=)
|
|
|
NM_001035.3(RYR2):c.5994T>A (p.Asp1998Glu)
|
rs2148649411
|
|
NM_001035.3(RYR2):c.5999A>G (p.His2000Arg)
|
rs1679359996
|
|
NM_001035.3(RYR2):c.6000T>C (p.His2000=)
|
|
|
NM_001035.3(RYR2):c.6000T>G (p.His2000Gln)
|
|
|
NM_001035.3(RYR2):c.6003A>C (p.Glu2001Asp)
|
|
|
NM_001035.3(RYR2):c.6004G>A (p.Asp2002Asn)
|
rs2148649453
|
|
NM_001035.3(RYR2):c.6005A>G (p.Asp2002Gly)
|
|
|
NM_001035.3(RYR2):c.600C>T (p.Ser200=)
|
rs754084775
|
|
NM_001035.3(RYR2):c.6017A>G (p.His2006Arg)
|
rs1553528609
|
|
NM_001035.3(RYR2):c.6018T>C (p.His2006=)
|
rs757380341
|
|
NM_001035.3(RYR2):c.6020G>T (p.Cys2007Phe)
|
rs1251250228
|
|
NM_001035.3(RYR2):c.6022+13del
|
rs1166918981
|
|
NM_001035.3(RYR2):c.6022+14G>A
|
rs1370132495
|
|
NM_001035.3(RYR2):c.6022+14G>T
|
|
|
NM_001035.3(RYR2):c.6022+15A>T
|
|
|
NM_001035.3(RYR2):c.6022+6G>A
|
rs1679363703
|
|
NM_001035.3(RYR2):c.6023-14T>G
|
|
|
NM_001035.3(RYR2):c.6023-19C>G
|
|
|
NM_001035.3(RYR2):c.6023-8T>A
|
rs770641716
|
|
NM_001035.3(RYR2):c.6027T>G (p.Ile2009Met)
|
rs1553529773
|
|
NM_001035.3(RYR2):c.6044G>A (p.Gly2015Glu)
|
|
|
NM_001035.3(RYR2):c.6053A>G (p.Asp2018Gly)
|
rs1679572780
|
|
NM_001035.3(RYR2):c.6056G>A (p.Gly2019Glu)
|
|
|
NM_001035.3(RYR2):c.606C>A (p.His202Gln)
|
rs1438256315
|
|
NM_001035.3(RYR2):c.6077G>C (p.Arg2026Thr)
|
|
|
NM_001035.3(RYR2):c.607G>A (p.Val203Met)
|
rs1158346329
|
|
NM_001035.3(RYR2):c.6080G>T (p.Gly2027Val)
|
rs2148657684
|
|
NM_001035.3(RYR2):c.6081G>T (p.Gly2027=)
|
|
|
NM_001035.3(RYR2):c.6082C>T (p.Arg2028Cys)
|
|
|
NM_001035.3(RYR2):c.6090A>C (p.Leu2030=)
|
|
|
NM_001035.3(RYR2):c.6090A>T (p.Leu2030=)
|
|
|
NM_001035.3(RYR2):c.6091T>A (p.Ser2031Thr)
|
|
|
NM_001035.3(RYR2):c.6092C>T (p.Ser2031Phe)
|
|
|
NM_001035.3(RYR2):c.6094C>G (p.Leu2032Val)
|
|
|
NM_001035.3(RYR2):c.6105G>A (p.Lys2035=)
|
|
|
NM_001035.3(RYR2):c.6109A>G (p.Thr2037Ala)
|
rs1679577488
|
|
NM_001035.3(RYR2):c.6114T>C (p.Tyr2038=)
|
rs1451202406
|
|
NM_001035.3(RYR2):c.6117G>A (p.Leu2039=)
|
|
|
NM_001035.3(RYR2):c.6118AAG[4] (p.Lys2042_Gln2043insLys)
|
|
|
NM_001035.3(RYR2):c.611A>T (p.Asp204Val)
|
rs2149842971
|
|
NM_001035.3(RYR2):c.6120G>A (p.Lys2040=)
|
rs1573190935
|
|
NM_001035.3(RYR2):c.6126G>A (p.Lys2042=)
|
rs1433457033
|
|
NM_001035.3(RYR2):c.6134A>G (p.Glu2045Gly)
|
rs878854160
|
|
NM_001035.3(RYR2):c.6141A>C (p.Pro2047=)
|
|
|
NM_001035.3(RYR2):c.6141A>G (p.Pro2047=)
|
rs2148657967
|
|
NM_001035.3(RYR2):c.6149G>A (p.Ser2050Asn)
|
rs1679582199
|
|
NM_001035.3(RYR2):c.6150T>C (p.Ser2050=)
|
rs371310419
|
|
NM_001035.3(RYR2):c.6150T>G (p.Ser2050Arg)
|
rs371310419
|
|
NM_001035.3(RYR2):c.6163T>C (p.Ser2055Pro)
|
rs746490469
|
|
NM_001035.3(RYR2):c.6164C>T (p.Ser2055Phe)
|
|
|
NM_001035.3(RYR2):c.6166+13A>G
|
|
|
NM_001035.3(RYR2):c.6166+16G>A
|
|
|
NM_001035.3(RYR2):c.6166+17T>C
|
|
|
NM_001035.3(RYR2):c.6166+18G>A
|
|
|
NM_001035.3(RYR2):c.6166+6C>T
|
rs1679584792
|
|
NM_001035.3(RYR2):c.6166+7A>G
|
rs1679585107
|
|
NM_001035.3(RYR2):c.6166T>C (p.Ser2056Pro)
|
|
|
NM_001035.3(RYR2):c.6167-13A>G
|
|
|
NM_001035.3(RYR2):c.6167-16C>T
|
|
|
NM_001035.3(RYR2):c.6167-7T>C
|
rs1679840771
|
|
NM_001035.3(RYR2):c.6170C>T (p.Thr2057Ile)
|
rs1679842104
|
|
NM_001035.3(RYR2):c.6171T>G (p.Thr2057=)
|
rs2148666530
|
|
NM_001035.3(RYR2):c.6191A>G (p.Glu2064Gly)
|
|
|
NM_001035.3(RYR2):c.6192G>T (p.Glu2064Asp)
|
rs1679843736
|
|
NM_001035.3(RYR2):c.6195C>T (p.Thr2065=)
|
rs1244724940
|
|
NM_001035.3(RYR2):c.6212A>C (p.Gln2071Pro)
|
rs1426800953
|
|
NM_001035.3(RYR2):c.6216G>T (p.Glu2072Asp)
|
|
|
NM_001035.3(RYR2):c.6231C>A (p.Asp2077Glu)
|
rs1407541809
|
|
NM_001035.3(RYR2):c.6235G>A (p.Glu2079Lys)
|
|
|
NM_001035.3(RYR2):c.623A>C (p.Gln208Pro)
|
rs778071716
|
|
NM_001035.3(RYR2):c.623A>G (p.Gln208Arg)
|
|
|
NM_001035.3(RYR2):c.6245G>A (p.Arg2082Lys)
|
|
|
NM_001035.3(RYR2):c.6249C>T (p.Ala2083=)
|
rs2148666906
|
|
NM_001035.3(RYR2):c.6268C>T (p.Arg2090Trp)
|
rs1284802339
|
|
NM_001035.3(RYR2):c.6273G>A (p.Gln2091=)
|
|
|
NM_001035.3(RYR2):c.6274T>C (p.Tyr2092His)
|
|
|
NM_001035.3(RYR2):c.6293T>G (p.Leu2098Arg)
|
rs2148667139
|
|
NM_001035.3(RYR2):c.6295G>A (p.Val2099Ile)
|
rs767569006
|
|
NM_001035.3(RYR2):c.6298C>T (p.Arg2100Trp)
|
rs753164125
|
|
NM_001035.3(RYR2):c.6302C>T (p.Ala2101Val)
|
rs2148667213
|
|
NM_001035.3(RYR2):c.6305T>C (p.Leu2102Pro)
|
|
|
NM_001035.3(RYR2):c.630T>A (p.Thr210=)
|
|
|
NM_001035.3(RYR2):c.6310A>C (p.Lys2104Gln)
|
rs2148667245
|
|
NM_001035.3(RYR2):c.6318C>T (p.Tyr2106=)
|
rs2148667270
|
|
NM_001035.3(RYR2):c.631C>G (p.Leu211Val)
|
|
|
NM_001035.3(RYR2):c.6322A>G (p.Ile2108Val)
|
rs2148667315
|
|
NM_001035.3(RYR2):c.6327T>C (p.Asn2109=)
|
|
|
NM_001035.3(RYR2):c.6331G>T (p.Val2111Leu)
|
rs2148667347
|
|
NM_001035.3(RYR2):c.6338T>C (p.Val2113Ala)
|
|
|
NM_001035.3(RYR2):c.6348C>A (p.Thr2116=)
|
|
|
NM_001035.3(RYR2):c.6349A>G (p.Ile2117Val)
|
|
|
NM_001035.3(RYR2):c.6367C>T (p.Leu2123Phe)
|
rs1060500159
|
|
NM_001035.3(RYR2):c.6369T>C (p.Leu2123=)
|
rs1200040510
|
|
NM_001035.3(RYR2):c.6380G>A (p.Arg2127Gln)
|
rs397516547
|
|
NM_001035.3(RYR2):c.6381G>T (p.Arg2127=)
|
|
|
NM_001035.3(RYR2):c.6386T>C (p.Leu2129Pro)
|
|
|
NM_001035.3(RYR2):c.638G>A (p.Ser213Asn)
|
rs1702026122
|
|
NM_001035.3(RYR2):c.6390G>T (p.Leu2130=)
|
|
|
NM_001035.3(RYR2):c.639C>A (p.Ser213Arg)
|
rs375180398
|
|
NM_001035.3(RYR2):c.6408A>C (p.Lys2136Asn)
|
rs2148667612
|
|
NM_001035.3(RYR2):c.6409G>A (p.Glu2137Lys)
|
|
|
NM_001035.3(RYR2):c.6412G>A (p.Glu2138Lys)
|
rs1553531703
|
|
NM_001035.3(RYR2):c.6419A>C (p.Lys2140Thr)
|
rs1443634453
|
|
NM_001035.3(RYR2):c.6420G>A (p.Lys2140=)
|
rs2148667663
|
|
NM_001035.3(RYR2):c.6429T>A (p.Ile2143=)
|
rs2148667697
|
|
NM_001035.3(RYR2):c.6435A>T (p.Gly2145=)
|
rs1388675043
|
|
NM_001035.3(RYR2):c.6440+17C>A
|
|
|
NM_001035.3(RYR2):c.6441-16C>A
|
|
|
NM_001035.3(RYR2):c.6441-18G>A
|
rs772385198
|
|
NM_001035.3(RYR2):c.6441-18G>T
|
|
|
NM_001035.3(RYR2):c.6441-9C>G
|
rs777133390
|
|
NM_001035.3(RYR2):c.6441-9C>T
|
|
|
NM_001035.3(RYR2):c.6446T>G (p.Ile2149Ser)
|
|
|
NM_001035.3(RYR2):c.6452A>T (p.Asn2151Ile)
|
|
|
NM_001035.3(RYR2):c.6469C>T (p.Gln2157Ter)
|
|
|
NM_001035.3(RYR2):c.6472C>G (p.His2158Asp)
|
rs1680241133
|
|
NM_001035.3(RYR2):c.6475C>T (p.Pro2159Ser)
|
rs1573222038
|
|
NM_001035.3(RYR2):c.6476C>A (p.Pro2159His)
|
rs1680241596
|
|
NM_001035.3(RYR2):c.6483C>T (p.Leu2161=)
|
|
|
NM_001035.3(RYR2):c.6504C>A (p.His2168Gln)
|
rs760237464
|
|
NM_001035.3(RYR2):c.6504C>G (p.His2168Gln)
|
rs760237464
|
|
NM_001035.3(RYR2):c.6506A>G (p.Glu2169Gly)
|
rs1064794183
|
|
NM_001035.3(RYR2):c.6510T>C (p.Thr2170=)
|
rs901453964
|
|
NM_001035.3(RYR2):c.6513G>A (p.Val2171=)
|
|
|
NM_001035.3(RYR2):c.6519G>A (p.Glu2173=)
|
|
|
NM_001035.3(RYR2):c.6523A>G (p.Met2175Val)
|
rs794728820
|
|
NM_001035.3(RYR2):c.6531C>G (p.Asn2177Lys)
|
rs757298566
|
|
NM_001035.3(RYR2):c.6531C>T (p.Asn2177=)
|
|
|
NM_001035.3(RYR2):c.6532G>A (p.Val2178Ile)
|
rs794728821
|
|
NM_001035.3(RYR2):c.6535C>G (p.Leu2179Val)
|
|
|
NM_001035.3(RYR2):c.6546A>G (p.Gly2182=)
|
|
|
NM_001035.3(RYR2):c.6549_6555+3dup
|
|
|
NM_001035.3(RYR2):c.6552C>T (p.Ser2184=)
|
rs1573222497
|
|
NM_001035.3(RYR2):c.6555+10_6555+11del
|
|
|
NM_001035.3(RYR2):c.6555+19dup
|
|
|
NM_001035.3(RYR2):c.6555+5C>T
|
|
|
NM_001035.3(RYR2):c.6555+8C>G
|
rs1759122
|
|
NM_001035.3(RYR2):c.6556-11T>C
|
rs372925188
|
|
NM_001035.3(RYR2):c.6556-16C>T
|
rs1160418526
|
|
NM_001035.3(RYR2):c.6556-9T>C
|
|
|
NM_001035.3(RYR2):c.6560T>C (p.Ile2187Thr)
|
|
|
NM_001035.3(RYR2):c.6568C>A (p.Pro2190Thr)
|
rs1558103839
|
|
NM_001035.3(RYR2):c.6574A>G (p.Met2192Val)
|
|
|
NM_001035.3(RYR2):c.6580G>T (p.Ala2194Ser)
|
|
|
NM_001035.3(RYR2):c.6585C>G (p.Asn2195Lys)
|
rs2148700748
|
|
NM_001035.3(RYR2):c.6587G>A (p.Cys2196Tyr)
|
rs1680567505
|
|
NM_001035.3(RYR2):c.6592C>T (p.Arg2198Cys)
|
|
|
NM_001035.3(RYR2):c.6593G>A (p.Arg2198His)
|
rs375935636
|
|
NM_001035.3(RYR2):c.6598C>G (p.Leu2200Val)
|
|
|
NM_001035.3(RYR2):c.659G>A (p.Gly220Glu)
|
rs786205454
|
|
NM_001035.3(RYR2):c.6600C>G (p.Leu2200=)
|
|
|
NM_001035.3(RYR2):c.6602G>A (p.Cys2201Tyr)
|
|
|
NM_001035.3(RYR2):c.6603T>G (p.Cys2201Trp)
|
rs2148700795
|
|
NM_001035.3(RYR2):c.6613C>G (p.Arg2205Gly)
|
rs1558103888
|
|
NM_001035.3(RYR2):c.6613C>T (p.Arg2205Cys)
|
rs1558103888
|
|
NM_001035.3(RYR2):c.6615T>A (p.Arg2205=)
|
|
|
NM_001035.3(RYR2):c.6615T>C (p.Arg2205=)
|
|
|
NM_001035.3(RYR2):c.661A>G (p.Ser221Gly)
|
rs1553431798
|
|
NM_001035.3(RYR2):c.6632A>C (p.Gln2211Pro)
|
|
|
NM_001035.3(RYR2):c.6637G>T (p.Ala2213Ser)
|
rs1680569929
|
|
NM_001035.3(RYR2):c.6637_6644delinsTCAAAATAAC (p.Ala2213_Phe2215delinsSerLysTer)
|
rs1680570117
|
|
NM_001035.3(RYR2):c.6638C>T (p.Ala2213Val)
|
rs1060500144
|
|
NM_001035.3(RYR2):c.6639T>A (p.Ala2213=)
|
rs2148700970
|
|
NM_001035.3(RYR2):c.663T>C (p.Ser221=)
|
|
|
NM_001035.3(RYR2):c.6646G>C (p.Asp2216His)
|
rs1558103974
|
|
NM_001035.3(RYR2):c.6647A>G (p.Asp2216Gly)
|
rs1328318082
|
|
NM_001035.3(RYR2):c.6649C>T (p.His2217Tyr)
|
rs1372052481
|
|
NM_001035.3(RYR2):c.6661T>C (p.Leu2221=)
|
|
|
NM_001035.3(RYR2):c.6664C>T (p.Leu2222=)
|
|
|
NM_001035.3(RYR2):c.6667G>C (p.Glu2223Gln)
|
|
|
NM_001035.3(RYR2):c.667G>A (p.Ala223Thr)
|
rs1558732422
|
|
NM_001035.3(RYR2):c.6686T>C (p.Leu2229Pro)
|
rs1680574380
|
|
NM_001035.3(RYR2):c.6688+13C>T
|
|
|
NM_001035.3(RYR2):c.6689-15C>T
|
|
|
NM_001035.3(RYR2):c.6689-16T>A
|
|
|
NM_001035.3(RYR2):c.6689-18C>T
|
|
|
NM_001035.3(RYR2):c.6689-1G>A
|
rs794728822
|
|
NM_001035.3(RYR2):c.6689-3T>A
|
rs886046272
|
|
NM_001035.3(RYR2):c.6690C>G (p.Ala2230=)
|
rs1558107135
|
|
NM_001035.3(RYR2):c.6693C>G (p.Ser2231=)
|
rs1426565026
|
|
NM_001035.3(RYR2):c.6693C>T (p.Ser2231=)
|
rs1426565026
|
|
NM_001035.3(RYR2):c.6702G>C (p.Met2234Ile)
|
|
|
NM_001035.3(RYR2):c.6705A>G (p.Arg2235=)
|
|
|
NM_001035.3(RYR2):c.6706G>A (p.Gly2236Ser)
|
rs1680719186
|
|
NM_001035.3(RYR2):c.6711A>G (p.Ser2237=)
|
|
|
NM_001035.3(RYR2):c.6713C>T (p.Thr2238Ile)
|
rs2148707248
|
|
NM_001035.3(RYR2):c.6716C>T (p.Pro2239Leu)
|
rs1680720163
|
|
NM_001035.3(RYR2):c.6717A>G (p.Pro2239=)
|
rs1288613413
|
|
NM_001035.3(RYR2):c.671C>T (p.Ala224Val)
|
|
|
NM_001035.3(RYR2):c.672C>A (p.Ala224=)
|
rs1572092448
|
|
NM_001035.3(RYR2):c.6730G>A (p.Ala2244Thr)
|
|
|
NM_001035.3(RYR2):c.6734C>G (p.Ala2245Gly)
|
|
|
NM_001035.3(RYR2):c.6737C>T (p.Ser2246Leu)
|
rs121918597
|
|
NM_001035.3(RYR2):c.6738G>A (p.Ser2246=)
|
rs368207198
|
|
NM_001035.3(RYR2):c.6743T>C (p.Met2248Thr)
|
|
|
NM_001035.3(RYR2):c.6754G>A (p.Glu2252Lys)
|
rs1318607228
|
|
NM_001035.3(RYR2):c.676+12A>C
|
rs760974801
|
|
NM_001035.3(RYR2):c.676+17A>C
|
|
|
NM_001035.3(RYR2):c.676+3A>G
|
rs1702028230
|
|
NM_001035.3(RYR2):c.6760G>A (p.Ala2254Thr)
|
rs1680726117
|
|
NM_001035.3(RYR2):c.6762A>G (p.Ala2254=)
|
rs1043486693
|
|
NM_001035.3(RYR2):c.6768T>C (p.Ala2256=)
|
|
|
NM_001035.3(RYR2):c.677-11T>C
|
rs10754602
|
|
NM_001035.3(RYR2):c.677-16T>C
|
|
|
NM_001035.3(RYR2):c.677-18G>A
|
|
|
NM_001035.3(RYR2):c.677-7C>G
|
rs747407654
|
|
NM_001035.3(RYR2):c.6773G>C (p.Arg2258Pro)
|
rs779289104
|
|
NM_001035.3(RYR2):c.677G>A (p.Gly226Glu)
|
rs1702087452
|
|
NM_001035.3(RYR2):c.6780G>C (p.Pro2260=)
|
rs758855412
|
|
NM_001035.3(RYR2):c.6792+14C>T
|
|
|
NM_001035.3(RYR2):c.6792+16G>T
|
|
|
NM_001035.3(RYR2):c.6792+17C>A
|
|
|
NM_001035.3(RYR2):c.6792+18C>T
|
rs1350816716
|
|
NM_001035.3(RYR2):c.6792+5G>A
|
rs1410840833
|
|
NM_001035.3(RYR2):c.6792G>C (p.Lys2264Asn)
|
rs1680728738
|
|
NM_001035.3(RYR2):c.6792G>T (p.Lys2264Asn)
|
rs1680728738
|
|
NM_001035.3(RYR2):c.6793-11G>A
|
|
|
NM_001035.3(RYR2):c.6793-4G>A
|
rs568936247
|
|
NM_001035.3(RYR2):c.6793-5T>G
|
rs1060500148
|
|
NM_001035.3(RYR2):c.6795A>G (p.Val2265=)
|
|
|
NM_001035.3(RYR2):c.6811G>T (p.Gly2271Cys)
|
rs375371340
|
|
NM_001035.3(RYR2):c.6817G>A (p.Gly2273Arg)
|
rs1681095773
|
|
NM_001035.3(RYR2):c.6827G>T (p.Ser2276Ile)
|
rs1247927726
|
|
NM_001035.3(RYR2):c.682C>G (p.Leu228Val)
|
|
|
NM_001035.3(RYR2):c.682C>T (p.Leu228Phe)
|
|
|
NM_001035.3(RYR2):c.6831C>T (p.Cys2277=)
|
|
|
NM_001035.3(RYR2):c.6834G>C (p.Gln2278His)
|
rs1269962708
|
|
NM_001035.3(RYR2):c.6850G>T (p.Gly2284Cys)
|
|
|
NM_001035.3(RYR2):c.6853T>A (p.Tyr2285Asn)
|
rs1681099721
|
|
NM_001035.3(RYR2):c.6856C>T (p.Pro2286Ser)
|
|
|
NM_001035.3(RYR2):c.6858A>G (p.Pro2286=)
|
rs2148724106
|
|
NM_001035.3(RYR2):c.685A>C (p.Ile229Leu)
|
|
|
NM_001035.3(RYR2):c.685A>G (p.Ile229Val)
|
|
|
NM_001035.3(RYR2):c.685A>T (p.Ile229Phe)
|
rs368653489
|
|
NM_001035.3(RYR2):c.6867G>A (p.Gly2289=)
|
rs778358338
|
|
NM_001035.3(RYR2):c.6871A>G (p.Asn2291Asp)
|
rs1681101676
|
|
NM_001035.3(RYR2):c.6873C>A (p.Asn2291Lys)
|
|
|
NM_001035.3(RYR2):c.6880G>A (p.Glu2294Lys)
|
rs1238576332
|
|
NM_001035.3(RYR2):c.6886G>A (p.Glu2296Lys)
|
rs1060500156
|
|
NM_001035.3(RYR2):c.6895C>G (p.Leu2299Val)
|
rs2148724365
|
|
NM_001035.3(RYR2):c.6898G>C (p.Asp2300His)
|
|
|
NM_001035.3(RYR2):c.6899A>G (p.Asp2300Gly)
|
rs1681104142
|
|
NM_001035.3(RYR2):c.689G>A (p.Gly230Asp)
|
rs794728710
|
|
NM_001035.3(RYR2):c.6900C>G (p.Asp2300Glu)
|
rs2148724390
|
|
NM_001035.3(RYR2):c.6906T>G (p.Leu2302=)
|
|
|
NM_001035.3(RYR2):c.6906_6907delinsCC (p.Leu2302_Arg2303=)
|
rs2148724444
|
|
NM_001035.3(RYR2):c.6911T>C (p.Phe2304Ser)
|
rs2148724464
|
|
NM_001035.3(RYR2):c.6915T>A (p.Ala2305=)
|
|
|
NM_001035.3(RYR2):c.6916G>A (p.Val2306Ile)
|
rs794728746
|
|
NM_001035.3(RYR2):c.6916G>T (p.Val2306Phe)
|
|
|
NM_001035.3(RYR2):c.691G>T (p.Gly231Cys)
|
rs2149847466
|
|
NM_001035.3(RYR2):c.6922T>C (p.Cys2308Arg)
|
rs1681106353
|
|
NM_001035.3(RYR2):c.6927T>C (p.Asn2309=)
|
|
|
NM_001035.3(RYR2):c.6928+15C>A
|
|
|
NM_001035.3(RYR2):c.6928+15C>T
|
|
|
NM_001035.3(RYR2):c.6928+16T>C
|
|
|
NM_001035.3(RYR2):c.6928+17T>C
|
|
|
NM_001035.3(RYR2):c.6928+8T>C
|
rs2148724639
|
|
NM_001035.3(RYR2):c.6929-16C>T
|
rs2148727288
|
|
NM_001035.3(RYR2):c.6929-20T>C
|
|
|
NM_001035.3(RYR2):c.6929-6C>T
|
|
|
NM_001035.3(RYR2):c.6929-8T>G
|
rs1405186238
|
|
NM_001035.3(RYR2):c.6930G>C (p.Gly2310=)
|
|
|
NM_001035.3(RYR2):c.6933G>C (p.Glu2311Asp)
|
rs794728747
|
|
NM_001035.3(RYR2):c.6934A>G (p.Ser2312Gly)
|
rs1060500164
|
|
NM_001035.3(RYR2):c.6938T>C (p.Val2313Ala)
|
rs1681171235
|
|
NM_001035.3(RYR2):c.693T>C (p.Gly231=)
|
|
|
NM_001035.3(RYR2):c.6940G>A (p.Glu2314Lys)
|
rs794728748
|
|
NM_001035.3(RYR2):c.6950C>T (p.Ala2317Val)
|
rs794728750
|
|
NM_001035.3(RYR2):c.6951A>G (p.Ala2317=)
|
|
|
NM_001035.3(RYR2):c.6954T>C (p.Asn2318=)
|
|
|
NM_001035.3(RYR2):c.6958G>A (p.Val2320Met)
|
rs1057522884
|
|
NM_001035.3(RYR2):c.6963G>A (p.Val2321=)
|
rs2148727676
|
|
NM_001035.3(RYR2):c.6967T>G (p.Leu2323Val)
|
|
|
NM_001035.3(RYR2):c.6968T>C (p.Leu2323Ser)
|
|
|
NM_001035.3(RYR2):c.6972C>T (p.Leu2324=)
|
rs770197614
|
|
NM_001035.3(RYR2):c.6973A>G (p.Ile2325Val)
|
|
|
NM_001035.3(RYR2):c.6973A>T (p.Ile2325Phe)
|
rs1060500138
|
|
NM_001035.3(RYR2):c.6982C>G (p.Pro2328Ala)
|
rs121918603
|
|
NM_001035.3(RYR2):c.6983C>T (p.Pro2328Leu)
|
rs727503401
|
|
NM_001035.3(RYR2):c.6985G>A (p.Glu2329Lys)
|
|
|
NM_001035.3(RYR2):c.6994G>T (p.Gly2332Cys)
|
rs766508848
|
|
NM_001035.3(RYR2):c.6C>A (p.Ala2=)
|
rs1019441723
|
|
NM_001035.3(RYR2):c.6C>G (p.Ala2=)
|
rs1019441723
|
|
NM_001035.3(RYR2):c.7000G>A (p.Ala2334Thr)
|
rs1681178084
|
|
NM_001035.3(RYR2):c.7007GAG[1] (p.Gly2337del)
|
|
|
NM_001035.3(RYR2):c.7009G>A (p.Gly2337Arg)
|
rs1553263875
|
|
NM_001035.3(RYR2):c.7009G>C (p.Gly2337Arg)
|
rs1553263875
|
|
NM_001035.3(RYR2):c.7010G>A (p.Gly2337Glu)
|
|
|
NM_001035.3(RYR2):c.7010G>T (p.Gly2337Val)
|
rs2148727943
|
|
NM_001035.3(RYR2):c.7011A>G (p.Gly2337=)
|
|
|
NM_001035.3(RYR2):c.7020G>A (p.Gly2340=)
|
rs767884614
|
|
NM_001035.3(RYR2):c.7022A>G (p.Asn2341Ser)
|
rs1681180500
|
|
NM_001035.3(RYR2):c.7023T>C (p.Asn2341=)
|
|
|
NM_001035.3(RYR2):c.7025G>T (p.Gly2342Val)
|
rs794728751
|
|
NM_001035.3(RYR2):c.702C>T (p.Leu234=)
|
rs2149847517
|
|
NM_001035.3(RYR2):c.7030C>T (p.Leu2344Phe)
|
rs2148728141
|
|
NM_001035.3(RYR2):c.7031T>C (p.Leu2344Pro)
|
rs2148728162
|
|
NM_001035.3(RYR2):c.7034C>A (p.Ala2345Glu)
|
|
|
NM_001035.3(RYR2):c.7035A>T (p.Ala2345=)
|
rs1681182291
|
|
NM_001035.3(RYR2):c.7045_7057del (p.Glu2349fs)
|
|
|
NM_001035.3(RYR2):c.7046A>G (p.Glu2349Gly)
|
|
|
NM_001035.3(RYR2):c.7050C>T (p.Ala2350=)
|
rs1573272712
|
|
NM_001035.3(RYR2):c.7052T>C (p.Ile2351Thr)
|
rs1282045319
|
|
NM_001035.3(RYR2):c.7059C>T (p.Ile2353=)
|
rs750016196
|
|
NM_001035.3(RYR2):c.705G>A (p.Arg235=)
|
|
|
NM_001035.3(RYR2):c.7060G>A (p.Ala2354Thr)
|
rs773070579
|
|
NM_001035.3(RYR2):c.7063_7064delinsTT (p.Glu2355Leu)
|
|
|
NM_001035.3(RYR2):c.7065G>A (p.Glu2355=)
|
rs1294243113
|
|
NM_001035.3(RYR2):c.706T>C (p.Leu236=)
|
rs1032660273
|
|
NM_001035.3(RYR2):c.7071T>A (p.Pro2357=)
|
rs1489908718
|
|
NM_001035.3(RYR2):c.7073C>A (p.Ser2358Tyr)
|
rs954868104
|
|
NM_001035.3(RYR2):c.7074C>T (p.Ser2358=)
|
rs2148728512
|
|
NM_001035.3(RYR2):c.7078G>A (p.Asp2360Asn)
|
|
|
NM_001035.3(RYR2):c.7081G>A (p.Gly2361Ser)
|
|
|
NM_001035.3(RYR2):c.7082G>T (p.Gly2361Val)
|
|
|
NM_001035.3(RYR2):c.7084C>G (p.Pro2362Ala)
|
rs1681189802
|
|
NM_001035.3(RYR2):c.7086C>G (p.Pro2362=)
|
|
|
NM_001035.3(RYR2):c.7105A>G (p.Ser2369Gly)
|
rs1327450246
|
|
NM_001035.3(RYR2):c.7106G>A (p.Ser2369Asn)
|
|
|
NM_001035.3(RYR2):c.7108A>G (p.Lys2370Glu)
|
|
|
NM_001035.3(RYR2):c.7114C>A (p.Leu2372Ile)
|
rs765925963
|
|
NM_001035.3(RYR2):c.7114C>T (p.Leu2372Phe)
|
|
|
NM_001035.3(RYR2):c.7115+10A>G
|
rs1553264024
|
|
NM_001035.3(RYR2):c.7115+12A>G
|
|
|
NM_001035.3(RYR2):c.7115+13T>A
|
|
|
NM_001035.3(RYR2):c.7115+16A>G
|
rs754440462
|
|
NM_001035.3(RYR2):c.7115+19C>A
|
|
|
NM_001035.3(RYR2):c.7115+4G>T
|
rs1681194479
|
|
NM_001035.3(RYR2):c.7115+6T>G
|
rs2148728871
|
|
NM_001035.3(RYR2):c.7115+9A>G
|
rs2148728882
|
|
NM_001035.3(RYR2):c.7115T>C (p.Leu2372Pro)
|
rs1245506727
|
|
NM_001035.3(RYR2):c.7115T>G (p.Leu2372Arg)
|
rs1245506727
|
|
NM_001035.3(RYR2):c.7116-11A>G
|
|
|
NM_001035.3(RYR2):c.7116-11A>T
|
|
|
NM_001035.3(RYR2):c.7116-15A>C
|
rs1558120605
|
|
NM_001035.3(RYR2):c.7116-2A>G
|
rs2148738146
|
|
NM_001035.3(RYR2):c.711G>A (p.Leu237=)
|
rs759018901
|
|
NM_001035.3(RYR2):c.711G>C (p.Leu237=)
|
rs759018901
|
|
NM_001035.3(RYR2):c.7124A>G (p.Glu2375Gly)
|
rs1553264645
|
|
NM_001035.3(RYR2):c.7134A>G (p.Glu2378=)
|
|
|
NM_001035.3(RYR2):c.7134A>T (p.Glu2378Asp)
|
|
|
NM_001035.3(RYR2):c.7140C>T (p.Asp2380=)
|
rs2148738346
|
|
NM_001035.3(RYR2):c.7146C>A (p.Ile2382=)
|
rs1459450227
|
|
NM_001035.3(RYR2):c.714T>C (p.His238=)
|
rs376541511
|
|
NM_001035.3(RYR2):c.7151T>C (p.Met2384Thr)
|
|
|
NM_001035.3(RYR2):c.7155G>C (p.Gly2385=)
|
rs794728752
|
|
NM_001035.3(RYR2):c.7156A>G (p.Asn2386Asp)
|
rs1553264670
|
|
NM_001035.3(RYR2):c.7157A>T (p.Asn2386Ile)
|
rs121918601
|
|
NM_001035.3(RYR2):c.7158C>A (p.Asn2386Lys)
|
rs376057173
|
|
NM_001035.3(RYR2):c.7158C>G (p.Asn2386Lys)
|
rs376057173
|
|
NM_001035.3(RYR2):c.7159G>A (p.Ala2387Thr)
|
rs794728753
|
|
NM_001035.3(RYR2):c.7160C>T (p.Ala2387Val)
|
rs794728754
|
|
NM_001035.3(RYR2):c.7161G>A (p.Ala2387=)
|
rs371560909
|
|
NM_001035.3(RYR2):c.7161G>C (p.Ala2387=)
|
rs371560909
|
|
NM_001035.3(RYR2):c.7173C>T (p.Phe2391=)
|
|
|
NM_001035.3(RYR2):c.7175A>G (p.Tyr2392Cys)
|
|
|
NM_001035.3(RYR2):c.7177T>C (p.Ser2393Pro)
|
rs1553264716
|
|
NM_001035.3(RYR2):c.7178C>T (p.Ser2393Leu)
|
|
|
NM_001035.3(RYR2):c.7183T>A (p.Leu2395Met)
|
|
|
NM_001035.3(RYR2):c.7195T>G (p.Leu2399Val)
|
rs1681407618
|
|
NM_001035.3(RYR2):c.7196T>A (p.Leu2399Ter)
|
rs1573284644
|
|
NM_001035.3(RYR2):c.7199G>A (p.Gly2400Glu)
|
rs1681408105
|
|
NM_001035.3(RYR2):c.7200A>T (p.Gly2400=)
|
rs777117043
|
|
NM_001035.3(RYR2):c.7202G>A (p.Arg2401His)
|
rs794728756
|
|
NM_001035.3(RYR2):c.7202G>T (p.Arg2401Leu)
|
rs794728756
|
|
NM_001035.3(RYR2):c.7207G>A (p.Ala2403Thr)
|
rs1456929288
|
|
NM_001035.3(RYR2):c.7210C>T (p.Pro2404Ser)
|
|
|
NM_001035.3(RYR2):c.7210_7212del (p.Pro2404del)
|
rs1681410223
|
|
NM_001035.3(RYR2):c.7212T>C (p.Pro2404=)
|
rs377714735
|
|
NM_001035.3(RYR2):c.7213G>A (p.Glu2405Lys)
|
rs2148739141
|
|
NM_001035.3(RYR2):c.721A>G (p.Met241Val)
|
|
|
NM_001035.3(RYR2):c.7221+15G>C
|
|
|
NM_001035.3(RYR2):c.7221+18C>T
|
|
|
NM_001035.3(RYR2):c.7221+3G>A
|
|
|
NM_001035.3(RYR2):c.7221+5G>A
|
|
|
NM_001035.3(RYR2):c.7221+5G>T
|
rs1060500153
|
|
NM_001035.3(RYR2):c.7221+9C>G
|
|
|
NM_001035.3(RYR2):c.7222-11C>G
|
|
|
NM_001035.3(RYR2):c.7222-11C>T
|
|
|
NM_001035.3(RYR2):c.7222-12T>G
|
rs540308433
|
|
NM_001035.3(RYR2):c.7222-12del
|
|
|
NM_001035.3(RYR2):c.7222-12dup
|
rs145140335
|
|
NM_001035.3(RYR2):c.7222-15T>A
|
rs1681763241
|
|
NM_001035.3(RYR2):c.7222-19T>G
|
|
|
NM_001035.3(RYR2):c.7222-2A>G
|
|
|
NM_001035.3(RYR2):c.7222-4A>G
|
rs564974610
|
|
NM_001035.3(RYR2):c.7222-5T>C
|
rs895002085
|
|
NM_001035.3(RYR2):c.7222-6G>A
|
|
|
NM_001035.3(RYR2):c.7222-8dup
|
|
|
NM_001035.3(RYR2):c.7222-9C>T
|
rs780241690
|
|
NM_001035.3(RYR2):c.7225A>T (p.Ile2409Phe)
|
rs1553265773
|
|
NM_001035.3(RYR2):c.7232C>G (p.Ala2411Gly)
|
rs781674330
|
|
NM_001035.3(RYR2):c.7232C>T (p.Ala2411Val)
|
|
|
NM_001035.3(RYR2):c.7233C>A (p.Ala2411=)
|
rs367994477
|
|
NM_001035.3(RYR2):c.724_725delinsAT (p.Asp242Ile)
|
rs1060500162
|
|
NM_001035.3(RYR2):c.7253G>C (p.Arg2418Thr)
|
|
|
NM_001035.3(RYR2):c.7256T>C (p.Ile2419Thr)
|
|
|
NM_001035.3(RYR2):c.7256T>G (p.Ile2419Ser)
|
rs1573300872
|
|
NM_001035.3(RYR2):c.7259G>C (p.Arg2420Thr)
|
rs1060500170
|
|
NM_001035.3(RYR2):c.725A>G (p.Asp242Gly)
|
rs1318491246
|
|
NM_001035.3(RYR2):c.725A>T (p.Asp242Val)
|
|
|
NM_001035.3(RYR2):c.7263C>A (p.Ser2421=)
|
|
|
NM_001035.3(RYR2):c.7267T>C (p.Leu2423=)
|
|
|
NM_001035.3(RYR2):c.7269G>T (p.Leu2423Phe)
|
|
|
NM_001035.3(RYR2):c.7272A>G (p.Arg2424=)
|
rs2148757919
|
|
NM_001035.3(RYR2):c.7276C>T (p.Leu2426Phe)
|
rs2148757954
|
|
NM_001035.3(RYR2):c.7277T>G (p.Leu2426Arg)
|
|
|
NM_001035.3(RYR2):c.7279A>G (p.Ile2427Val)
|
|
|
NM_001035.3(RYR2):c.727G>A (p.Glu243Lys)
|
rs794728712
|
|
NM_001035.3(RYR2):c.727G>C (p.Glu243Gln)
|
rs794728712
|
|
NM_001035.3(RYR2):c.7287G>A (p.Leu2429=)
|
rs876657578
|
|
NM_001035.3(RYR2):c.728A>G (p.Glu243Gly)
|
rs753663342
|
|
NM_001035.3(RYR2):c.7291G>T (p.Asp2431Tyr)
|
rs1553265823
|
|
NM_001035.3(RYR2):c.729G>A (p.Glu243=)
|
|
|
NM_001035.3(RYR2):c.7303G>A (p.Val2435Ile)
|
|
|
NM_001035.3(RYR2):c.7303G>C (p.Val2435Leu)
|
rs188835713
|
|
NM_001035.3(RYR2):c.7303G>T (p.Val2435Phe)
|
rs188835713
|
|
NM_001035.3(RYR2):c.7304T>C (p.Val2435Ala)
|
|
|
NM_001035.3(RYR2):c.7306A>T (p.Ile2436Phe)
|
rs1681780165
|
|
NM_001035.3(RYR2):c.7310G>A (p.Ser2437Asn)
|
|
|
NM_001035.3(RYR2):c.7312A>G (p.Ile2438Val)
|
rs755072769
|
|
NM_001035.3(RYR2):c.7314C>A (p.Ile2438=)
|
rs374418643
|
|
NM_001035.3(RYR2):c.7314C>T (p.Ile2438=)
|
rs374418643
|
|
NM_001035.3(RYR2):c.7323G>A (p.Gln2441=)
|
|
|
NM_001035.3(RYR2):c.7326G>A (p.Met2442Ile)
|
rs2148758415
|
|
NM_001035.3(RYR2):c.7330A>G (p.Thr2444Ala)
|
rs1681783995
|
|
NM_001035.3(RYR2):c.733C>G (p.Leu245Val)
|
rs2149847911
|
|
NM_001035.3(RYR2):c.7342+6G>A
|
rs2148758542
|
|
NM_001035.3(RYR2):c.7342+6G>T
|
|
|
NM_001035.3(RYR2):c.7342+9A>G
|
rs2148758575
|
|
NM_001035.3(RYR2):c.7343-13T>C
|
|
|
NM_001035.3(RYR2):c.7343-1G>T
|
rs2148789350
|
|
NM_001035.3(RYR2):c.7343-2A>G
|
rs778152200
|
|
NM_001035.3(RYR2):c.7343-9C>G
|
|
|
NM_001035.3(RYR2):c.7343-9C>T
|
rs372778902
|
|
NM_001035.3(RYR2):c.7350T>C (p.Asn2450=)
|
|
|
NM_001035.3(RYR2):c.7354G>T (p.Val2452Leu)
|
|
|
NM_001035.3(RYR2):c.7377G>C (p.Gly2459=)
|
|
|
NM_001035.3(RYR2):c.7383C>T (p.Cys2461=)
|
rs373881578
|
|
NM_001035.3(RYR2):c.7390C>G (p.His2464Asp)
|
rs1682397546
|
|
NM_001035.3(RYR2):c.7391A>G (p.His2464Arg)
|
rs1558137849
|
|
NM_001035.3(RYR2):c.739G>A (p.Val247Ile)
|
rs1261194692
|
|
NM_001035.3(RYR2):c.7402A>G (p.Met2468Val)
|
|
|
NM_001035.3(RYR2):c.7405G>A (p.Val2469Ile)
|
|
|
NM_001035.3(RYR2):c.7411T>C (p.Phe2471Leu)
|
rs2148789721
|
|
NM_001035.3(RYR2):c.7419C>G (p.Asp2473Glu)
|
|
|
NM_001035.3(RYR2):c.7419C>T (p.Asp2473=)
|
rs2148789761
|
|
NM_001035.3(RYR2):c.741C>T (p.Val247=)
|
|
|
NM_001035.3(RYR2):c.7420A>G (p.Arg2474Gly)
|
|
|
NM_001035.3(RYR2):c.7421G>A (p.Arg2474Lys)
|
rs2148789775
|
|
NM_001035.3(RYR2):c.7424T>C (p.Val2475Ala)
|
rs1682400034
|
|
NM_001035.3(RYR2):c.7424_7431del (p.Val2475fs)
|
|
|
NM_001035.3(RYR2):c.7427A>G (p.Tyr2476Cys)
|
rs1573330149
|
|
NM_001035.3(RYR2):c.7427A>T (p.Tyr2476Phe)
|
rs1573330149
|
|
NM_001035.3(RYR2):c.7431G>A (p.Gly2477=)
|
rs1347991904
|
|
NM_001035.3(RYR2):c.7433T>C (p.Ile2478Thr)
|
rs2148789857
|
|
NM_001035.3(RYR2):c.7438G>T (p.Val2480Phe)
|
rs774182084
|
|
NM_001035.3(RYR2):c.7448TCC[2] (p.Leu2485del)
|
rs1682402356
|
|
NM_001035.3(RYR2):c.7449C>T (p.Phe2483=)
|
|
|
NM_001035.3(RYR2):c.7454T>A (p.Leu2485His)
|
rs1558138015
|
|
NM_001035.3(RYR2):c.7454T>C (p.Leu2485Pro)
|
|
|
NM_001035.3(RYR2):c.7456C>T (p.His2486Tyr)
|
rs1573330357
|
|
NM_001035.3(RYR2):c.7477C>G (p.Leu2493Val)
|
rs886046273
|
|
NM_001035.3(RYR2):c.7489C>T (p.Arg2497Trp)
|
rs1682407283
|
|
NM_001035.3(RYR2):c.7494G>T (p.Ala2498=)
|
|
|
NM_001035.3(RYR2):c.7495G>T (p.Ala2499Ser)
|
rs191850147
|
|
NM_001035.3(RYR2):c.7497T>A (p.Ala2499=)
|
|
|
NM_001035.3(RYR2):c.749G>T (p.Gly250Val)
|
rs376925177
|
|
NM_001035.3(RYR2):c.7505T>C (p.Leu2502Ser)
|
rs1553267788
|
|
NM_001035.3(RYR2):c.750A>G (p.Gly250=)
|
rs1572095976
|
|
NM_001035.3(RYR2):c.7510A>G (p.Thr2504Ala)
|
rs1480448087
|
|
NM_001035.3(RYR2):c.7512+10G>A
|
|
|
NM_001035.3(RYR2):c.7512+11A>C
|
|
|
NM_001035.3(RYR2):c.7512+14G>T
|
rs748775701
|
|
NM_001035.3(RYR2):c.7512+3G>C
|
rs2148790353
|
|
NM_001035.3(RYR2):c.7512+7T>C
|
|
|
NM_001035.3(RYR2):c.7512+8T>C
|
rs1384500147
|
|
NM_001035.3(RYR2):c.7513-13G>C
|
|
|
NM_001035.3(RYR2):c.7513-17C>T
|
|
|
NM_001035.3(RYR2):c.7513-18T>C
|
|
|
NM_001035.3(RYR2):c.7513-20_7513-18del
|
|
|
NM_001035.3(RYR2):c.7513-6T>C
|
|
|
NM_001035.3(RYR2):c.7513-8T>G
|
rs727503402
|
|
NM_001035.3(RYR2):c.7524T>C (p.Ser2508=)
|
rs2148796054
|
|
NM_001035.3(RYR2):c.7533C>T (p.Asp2511=)
|
rs975710456
|
|
NM_001035.3(RYR2):c.7533del (p.Asp2511fs)
|
rs1553268185
|
|
NM_001035.3(RYR2):c.7534A>G (p.Met2512Val)
|
rs2148796155
|
|
NM_001035.3(RYR2):c.7535T>A (p.Met2512Lys)
|
rs778838507
|
|
NM_001035.3(RYR2):c.7538C>T (p.Ala2513Val)
|
|
|
NM_001035.3(RYR2):c.7539C>T (p.Ala2513=)
|
|
|
NM_001035.3(RYR2):c.7543G>A (p.Ala2515Thr)
|
rs1682556050
|
|
NM_001035.3(RYR2):c.7546C>T (p.Leu2516Phe)
|
rs775400701
|
|
NM_001035.3(RYR2):c.7552C>T (p.Arg2518Trp)
|
|
|
NM_001035.3(RYR2):c.7554G>A (p.Arg2518=)
|
rs2148796286
|
|
NM_001035.3(RYR2):c.7558C>A (p.Leu2520Ile)
|
rs1060500136
|
|
NM_001035.3(RYR2):c.755A>G (p.His252Arg)
|
rs2149848141
|
|
NM_001035.3(RYR2):c.7569C>G (p.Ala2523=)
|
|
|
NM_001035.3(RYR2):c.756T>C (p.His252=)
|
|
|
NM_001035.3(RYR2):c.7575G>A (p.Leu2525=)
|
rs1682560212
|
|
NM_001035.3(RYR2):c.7580T>G (p.Leu2527Trp)
|
rs1682561583
|
|
NM_001035.3(RYR2):c.7581G>A (p.Leu2527=)
|
rs1328285136
|
|
NM_001035.3(RYR2):c.7584A>G (p.Leu2528=)
|
|
|
NM_001035.3(RYR2):c.7585A>T (p.Thr2529Ser)
|
rs1682562289
|
|
NM_001035.3(RYR2):c.7599T>C (p.Pro2533=)
|
rs886046274
|
|
NM_001035.3(RYR2):c.75C>G (p.Thr25=)
|
|
|
NM_001035.3(RYR2):c.7600C>G (p.Leu2534Val)
|
rs1553268221
|
|
NM_001035.3(RYR2):c.7601T>C (p.Leu2534Pro)
|
rs1276253444
|
|
NM_001035.3(RYR2):c.7602C>G (p.Leu2534=)
|
rs546732183
|
|
NM_001035.3(RYR2):c.7604T>C (p.Phe2535Ser)
|
|
|
NM_001035.3(RYR2):c.7606G>C (p.Ala2536Pro)
|
|
|
NM_001035.3(RYR2):c.7617G>A (p.Glu2539=)
|
|
|
NM_001035.3(RYR2):c.7624G>A (p.Ala2542Thr)
|
rs373602064
|
|
NM_001035.3(RYR2):c.7626_7627delinsCA (p.Ser2543Thr)
|
|
|
NM_001035.3(RYR2):c.7645C>T (p.Leu2549Phe)
|
|
|
NM_001035.3(RYR2):c.7647T>G (p.Leu2549=)
|
|
|
NM_001035.3(RYR2):c.7659T>C (p.Tyr2553=)
|
|
|
NM_001035.3(RYR2):c.765G>A (p.Glu255=)
|
rs2149848184
|
|
NM_001035.3(RYR2):c.765G>C (p.Glu255Asp)
|
|
|
NM_001035.3(RYR2):c.7676G>T (p.Cys2559Phe)
|
|
|
NM_001035.3(RYR2):c.7681C>T (p.Leu2561Phe)
|
rs2148796916
|
|
NM_001035.3(RYR2):c.7697G>C (p.Arg2566Pro)
|
rs532016557
|
|
NM_001035.3(RYR2):c.7699G>A (p.Asp2567Asn)
|
|
|
NM_001035.3(RYR2):c.7708G>A (p.Glu2570Lys)
|
|
|
NM_001035.3(RYR2):c.7709A>G (p.Glu2570Gly)
|
|
|
NM_001035.3(RYR2):c.770G>A (p.Arg257Gln)
|
rs1023176208
|
|
NM_001035.3(RYR2):c.7710A>C (p.Glu2570Asp)
|
|
|
NM_001035.3(RYR2):c.7714T>G (p.Cys2572Gly)
|
rs750011838
|
|
NM_001035.3(RYR2):c.7721T>C (p.Leu2574Pro)
|
|
|
NM_001035.3(RYR2):c.7725T>C (p.Ser2575=)
|
|
|
NM_001035.3(RYR2):c.7726A>G (p.Ile2576Val)
|
|
|
NM_001035.3(RYR2):c.7728T>C (p.Ile2576=)
|
|
|
NM_001035.3(RYR2):c.773+14C>G
|
|
|
NM_001035.3(RYR2):c.773+4A>G
|
rs1702097862
|
|
NM_001035.3(RYR2):c.773+8C>A
|
rs1394250066
|
|
NM_001035.3(RYR2):c.773+9C>A
|
|
|
NM_001035.3(RYR2):c.7733+13C>A
|
|
|
NM_001035.3(RYR2):c.7733+8G>C
|
rs1426151116
|
|
NM_001035.3(RYR2):c.7733+8G>T
|
|
|
NM_001035.3(RYR2):c.7734-15G>A
|
|
|
NM_001035.3(RYR2):c.7734-19_7734-16dup
|
|
|
NM_001035.3(RYR2):c.7734-4A>G
|
rs913227817
|
|
NM_001035.3(RYR2):c.7734-5A>G
|
rs1438144185
|
|
NM_001035.3(RYR2):c.7736A>G (p.Gln2579Arg)
|
rs1573345482
|
|
NM_001035.3(RYR2):c.7738C>T (p.Leu2580=)
|
|
|
NM_001035.3(RYR2):c.774-14G>A
|
rs370114411
|
|
NM_001035.3(RYR2):c.774-15del
|
|
|
NM_001035.3(RYR2):c.774-17T>G
|
|
|
NM_001035.3(RYR2):c.774-21TTTG[2]
|
|
|
NM_001035.3(RYR2):c.774-8T>C
|
|
|
NM_001035.3(RYR2):c.7742G>A (p.Arg2581Lys)
|
rs1682718413
|
|
NM_001035.3(RYR2):c.7746T>G (p.Pro2582=)
|
rs1682719111
|
|
NM_001035.3(RYR2):c.7748C>T (p.Ser2583Phe)
|
|
|
NM_001035.3(RYR2):c.7754T>C (p.Met2585Thr)
|
rs1682720451
|
|
NM_001035.3(RYR2):c.7756C>G (p.Gln2586Glu)
|
rs1682720673
|
|
NM_001035.3(RYR2):c.7762T>C (p.Leu2588=)
|
rs2148804004
|
|
NM_001035.3(RYR2):c.776C>T (p.Thr259Ile)
|
rs758585307
|
|
NM_001035.3(RYR2):c.7774T>G (p.Leu2592Val)
|
rs761019645
|
|
NM_001035.3(RYR2):c.7778T>C (p.Val2593Ala)
|
|
|
NM_001035.3(RYR2):c.7783G>A (p.Asp2595Asn)
|
|
|
NM_001035.3(RYR2):c.7784A>G (p.Asp2595Gly)
|
rs2148804103
|
|
NM_001035.3(RYR2):c.7791A>G (p.Pro2597=)
|
|
|
NM_001035.3(RYR2):c.7808C>G (p.Ala2603Gly)
|
|
|
NM_001035.3(RYR2):c.7808C>T (p.Ala2603Val)
|
rs752607318
|
|
NM_001035.3(RYR2):c.7817C>G (p.Pro2606Arg)
|
|
|
NM_001035.3(RYR2):c.7819C>G (p.Leu2607Val)
|
rs1682727518
|
|
NM_001035.3(RYR2):c.7824+16G>A
|
rs749424932
|
|
NM_001035.3(RYR2):c.7824+18T>C
|
|
|
NM_001035.3(RYR2):c.7825-10T>A
|
rs1441653928
|
|
NM_001035.3(RYR2):c.7825-10del
|
|
|
NM_001035.3(RYR2):c.7825-1G>A
|
|
|
NM_001035.3(RYR2):c.7825-20A>G
|
|
|
NM_001035.3(RYR2):c.7825C>T (p.Leu2609=)
|
rs767568460
|
|
NM_001035.3(RYR2):c.7851C>T (p.Cys2617=)
|
rs752625888
|
|
NM_001035.3(RYR2):c.7856A>T (p.Lys2619Ile)
|
rs2148817475
|
|
NM_001035.3(RYR2):c.7857A>C (p.Lys2619Asn)
|
|
|
NM_001035.3(RYR2):c.7869G>C (p.Leu2623=)
|
|
|
NM_001035.3(RYR2):c.786T>C (p.Tyr262=)
|
|
|
NM_001035.3(RYR2):c.7874G>C (p.Gly2625Ala)
|
rs1331814541
|
|
NM_001035.3(RYR2):c.7878G>T (p.Gly2626=)
|
rs1553269593
|
|
NM_001035.3(RYR2):c.7895C>T (p.Ala2632Val)
|
rs1218556750
|
|
NM_001035.3(RYR2):c.7896T>C (p.Ala2632=)
|
|
|
NM_001035.3(RYR2):c.7897G>A (p.Ala2633Thr)
|
rs1683042825
|
|
NM_001035.3(RYR2):c.7902A>G (p.Ser2634=)
|
|
|
NM_001035.3(RYR2):c.7906G>A (p.Glu2636Lys)
|
rs1683044033
|
|
NM_001035.3(RYR2):c.7927A>C (p.Lys2643Gln)
|
|
|
NM_001035.3(RYR2):c.7929G>A (p.Lys2643=)
|
rs758412310
|
|
NM_001035.3(RYR2):c.792_800del (p.Gly265_Val267del)
|
rs1305758482
|
|
NM_001035.3(RYR2):c.7940G>T (p.Gly2647Val)
|
rs776908944
|
|
NM_001035.3(RYR2):c.7942A>G (p.Ile2648Val)
|
|
|
NM_001035.3(RYR2):c.7952C>T (p.Ala2651Val)
|
rs1259240846
|
|
NM_001035.3(RYR2):c.7954C>T (p.Leu2652=)
|
|
|
NM_001035.3(RYR2):c.7958C>A (p.Ser2653Tyr)
|
rs1553269691
|
|
NM_001035.3(RYR2):c.7959T>C (p.Ser2653=)
|
rs2148817903
|
|
NM_001035.3(RYR2):c.7965+13T>C
|
|
|
NM_001035.3(RYR2):c.7965+20G>A
|
|
|
NM_001035.3(RYR2):c.7966-11A>G
|
|
|
NM_001035.3(RYR2):c.7966-15C>T
|
|
|
NM_001035.3(RYR2):c.7966-16C>T
|
|
|
NM_001035.3(RYR2):c.7966-19G>T
|
|
|
NM_001035.3(RYR2):c.7966-1G>C
|
rs1553270488
|
|
NM_001035.3(RYR2):c.7966-2A>G
|
|
|
NM_001035.3(RYR2):c.7966-6T>C
|
rs2148823040
|
|
NM_001035.3(RYR2):c.796G>T (p.Ala266Ser)
|
|
|
NM_001035.3(RYR2):c.7980A>G (p.Glu2660=)
|
|
|
NM_001035.3(RYR2):c.7984T>G (p.Phe2662Val)
|
rs2148823138
|
|
NM_001035.3(RYR2):c.798T>C (p.Ala266=)
|
|
|
NM_001035.3(RYR2):c.7996C>A (p.Leu2666Met)
|
rs370333448
|
|
NM_001035.3(RYR2):c.799G>T (p.Val267Leu)
|
|
|
NM_001035.3(RYR2):c.7G>T (p.Asp3Tyr)
|
|
|
NM_001035.3(RYR2):c.8000C>G (p.Pro2667Arg)
|
rs1683196054
|
|
NM_001035.3(RYR2):c.8013A>C (p.Ala2671=)
|
rs1237709417
|
|
NM_001035.3(RYR2):c.8013A>T (p.Ala2671=)
|
rs1237709417
|
|
NM_001035.3(RYR2):c.8014G>C (p.Val2672Leu)
|
rs1467546989
|
|
NM_001035.3(RYR2):c.801_802delinsAA (p.Ser268Thr)
|
rs2150028824
|
|
NM_001035.3(RYR2):c.8033C>T (p.Pro2678Leu)
|
|
|
NM_001035.3(RYR2):c.8034A>G (p.Pro2678=)
|
rs1292632486
|
|
NM_001035.3(RYR2):c.8038T>C (p.Tyr2680His)
|
|
|
NM_001035.3(RYR2):c.8038T>G (p.Tyr2680Asp)
|
rs181732213
|
|
NM_001035.3(RYR2):c.8049A>C (p.Ser2683=)
|
|
|
NM_001035.3(RYR2):c.804T>G (p.Ser268=)
|
|
|
NM_001035.3(RYR2):c.8060G>T (p.Ser2687Ile)
|
|
|
NM_001035.3(RYR2):c.8065A>C (p.Met2689Leu)
|
|
|
NM_001035.3(RYR2):c.8070A>G (p.Glu2690=)
|
rs1683203086
|
|
NM_001035.3(RYR2):c.8073A>G (p.Lys2691=)
|
|
|
NM_001035.3(RYR2):c.8073del (p.Lys2691fs)
|
|
|
NM_001035.3(RYR2):c.8075A>T (p.Gln2692Leu)
|
|
|
NM_001035.3(RYR2):c.8076G>A (p.Gln2692=)
|
rs1425029026
|
|
NM_001035.3(RYR2):c.8079A>G (p.Ser2693=)
|
|
|
NM_001035.3(RYR2):c.807T>C (p.Val269=)
|
|
|
NM_001035.3(RYR2):c.80C>G (p.Thr27Ser)
|
rs1399536009
|
|
NM_001035.3(RYR2):c.8103T>C (p.Phe2701=)
|
|
|
NM_001035.3(RYR2):c.8107C>T (p.Pro2703Ser)
|
|
|
NM_001035.3(RYR2):c.8115T>C (p.Pro2705=)
|
rs1573369150
|
|
NM_001035.3(RYR2):c.811G>A (p.Ala271Thr)
|
|
|
NM_001035.3(RYR2):c.8120A>G (p.Asp2707Gly)
|
|
|
NM_001035.3(RYR2):c.8124C>T (p.Thr2708=)
|
|
|
NM_001035.3(RYR2):c.8129+10C>T
|
rs2148823810
|
|
NM_001035.3(RYR2):c.8129+12T>G
|
|
|
NM_001035.3(RYR2):c.8129+14C>T
|
|
|
NM_001035.3(RYR2):c.8129+16A>G
|
|
|
NM_001035.3(RYR2):c.8129+18T>A
|
|
|
NM_001035.3(RYR2):c.8129+4T>C
|
rs1683207512
|
|
NM_001035.3(RYR2):c.8129+7A>T
|
|
|
NM_001035.3(RYR2):c.8130-12C>A
|
rs1683411144
|
|
NM_001035.3(RYR2):c.8130-13A>G
|
|
|
NM_001035.3(RYR2):c.8130-20T>G
|
|
|
NM_001035.3(RYR2):c.8130-7C>T
|
|
|
NM_001035.3(RYR2):c.814C>T (p.Arg272Cys)
|
rs771847292
|
|
NM_001035.3(RYR2):c.8151G>A (p.Leu2717=)
|
rs1361143892
|
|
NM_001035.3(RYR2):c.8154A>G (p.Glu2718=)
|
|
|
NM_001035.3(RYR2):c.8155T>C (p.Tyr2719His)
|
|
|
NM_001035.3(RYR2):c.8157C>A (p.Tyr2719Ter)
|
|
|
NM_001035.3(RYR2):c.8157C>T (p.Tyr2719=)
|
|
|
NM_001035.3(RYR2):c.815G>A (p.Arg272His)
|
rs377368967
|
|
NM_001035.3(RYR2):c.815G>C (p.Arg272Pro)
|
|
|
NM_001035.3(RYR2):c.8173G>T (p.Ala2725Ser)
|
|
|
NM_001035.3(RYR2):c.8176G>A (p.Glu2726Lys)
|
rs1683416070
|
|
NM_001035.3(RYR2):c.8188G>A (p.Asp2730Asn)
|
rs1683417536
|
|
NM_001035.3(RYR2):c.818C>T (p.Ser273Phe)
|
rs794728715
|
|
NM_001035.3(RYR2):c.8195G>T (p.Trp2732Leu)
|
rs1553271224
|
|
NM_001035.3(RYR2):c.8199A>C (p.Ser2733=)
|
|
|
NM_001035.3(RYR2):c.81C>G (p.Thr27=)
|
rs919652347
|
|
NM_001035.3(RYR2):c.8204A>G (p.Asp2735Gly)
|
rs1213772557
|
|
NM_001035.3(RYR2):c.8208+10G>A
|
|
|
NM_001035.3(RYR2):c.8208+18T>A
|
rs1340011974
|
|
NM_001035.3(RYR2):c.8208+1G>A
|
rs1683419269
|
|
NM_001035.3(RYR2):c.8209-11C>T
|
rs1032335005
|
|
NM_001035.3(RYR2):c.8209-12C>T
|
|
|
NM_001035.3(RYR2):c.8209-13G>A
|
rs759582222
|
|
NM_001035.3(RYR2):c.8209-14T>G
|
|
|
NM_001035.3(RYR2):c.8209-6T>C
|
|
|
NM_001035.3(RYR2):c.8209-7_8209-4del
|
rs876657992
|
|
NM_001035.3(RYR2):c.820C>G (p.Leu274Val)
|
|
|
NM_001035.3(RYR2):c.8210T>A (p.Leu2737Ter)
|
|
|
NM_001035.3(RYR2):c.8222G>A (p.Trp2741Ter)
|
|
|
NM_001035.3(RYR2):c.8224A>G (p.Ile2742Val)
|
|
|
NM_001035.3(RYR2):c.8228A>C (p.Tyr2743Ser)
|
|
|
NM_001035.3(RYR2):c.822T>C (p.Leu274=)
|
|
|
NM_001035.3(RYR2):c.8231G>A (p.Gly2744Glu)
|
|
|
NM_001035.3(RYR2):c.8238A>G (p.Ile2746Met)
|
|
|
NM_001035.3(RYR2):c.8247C>T (p.Asp2749=)
|
rs878854161
|
|
NM_001035.3(RYR2):c.8249C>T (p.Ser2750Phe)
|
|
|
NM_001035.3(RYR2):c.824G>A (p.Trp275Ter)
|
rs2150028964
|
|
NM_001035.3(RYR2):c.8252C>T (p.Ser2751Phe)
|
|
|
NM_001035.3(RYR2):c.8262G>T (p.Gln2754His)
|
rs773748242
|
|
NM_001035.3(RYR2):c.8268A>G (p.Leu2756=)
|
|
|
NM_001035.3(RYR2):c.8274G>A (p.Lys2758=)
|
rs1035038004
|
|
NM_001035.3(RYR2):c.8274G>T (p.Lys2758Asn)
|
|
|
NM_001035.3(RYR2):c.8277A>G (p.Pro2759=)
|
rs2148841899
|
|
NM_001035.3(RYR2):c.8286A>G (p.Leu2762=)
|
rs747555778
|
|
NM_001035.3(RYR2):c.8289G>T (p.Leu2763Phe)
|
|
|
NM_001035.3(RYR2):c.8298+17del
|
|
|
NM_001035.3(RYR2):c.8298+18_8298+21del
|
rs1269850855
|
|
NM_001035.3(RYR2):c.8298+1G>T
|
|
|
NM_001035.3(RYR2):c.8298+7A>T
|
|
|
NM_001035.3(RYR2):c.8299-19C>A
|
|
|
NM_001035.3(RYR2):c.8305G>C (p.Glu2769Gln)
|
|
|
NM_001035.3(RYR2):c.8309T>A (p.Ile2770Asn)
|
|
|
NM_001035.3(RYR2):c.8312A>G (p.Tyr2771Cys)
|
|
|
NM_001035.3(RYR2):c.8315G>A (p.Arg2772His)
|
|
|
NM_001035.3(RYR2):c.8315G>T (p.Arg2772Leu)
|
rs922927449
|
|
NM_001035.3(RYR2):c.8316C>T (p.Arg2772=)
|
|
|
NM_001035.3(RYR2):c.831A>G (p.Leu277=)
|
rs2150028988
|
|
NM_001035.3(RYR2):c.8322A>C (p.Pro2774=)
|
rs1553272172
|
|
NM_001035.3(RYR2):c.8331A>G (p.Glu2777=)
|
rs1057520894
|
|
NM_001035.3(RYR2):c.8332T>C (p.Ser2778Pro)
|
rs1573391679
|
|
NM_001035.3(RYR2):c.8332T>G (p.Ser2778Ala)
|
|
|
NM_001035.3(RYR2):c.833A>G (p.Glu278Gly)
|
|
|
NM_001035.3(RYR2):c.8342C>G (p.Thr2781Ser)
|
rs369963696
|
|
NM_001035.3(RYR2):c.8344A>G (p.Met2782Val)
|
|
|
NM_001035.3(RYR2):c.8346G>A (p.Met2782Ile)
|
rs1683716140
|
|
NM_001035.3(RYR2):c.834G>A (p.Glu278=)
|
rs776594549
|
|
NM_001035.3(RYR2):c.8350G>T (p.Ala2784Ser)
|
rs1458501318
|
|
NM_001035.3(RYR2):c.8353T>C (p.Trp2785Arg)
|
|
|
NM_001035.3(RYR2):c.8357G>T (p.Gly2786Val)
|
rs1060500149
|
|
NM_001035.3(RYR2):c.835A>G (p.Thr279Ala)
|
|
|
NM_001035.3(RYR2):c.8366T>C (p.Ile2789Thr)
|
rs1419719746
|
|
NM_001035.3(RYR2):c.8368G>A (p.Glu2790Lys)
|
|
|
NM_001035.3(RYR2):c.8370A>T (p.Glu2790Asp)
|
|
|
NM_001035.3(RYR2):c.8372G>T (p.Arg2791Ile)
|
rs2148846476
|
|
NM_001035.3(RYR2):c.8379G>T (p.Arg2793=)
|
|
|
NM_001035.3(RYR2):c.837G>T (p.Thr279=)
|
rs769682840
|
|
NM_001035.3(RYR2):c.8380G>C (p.Glu2794Gln)
|
rs2148846514
|
|
NM_001035.3(RYR2):c.8382G>A (p.Glu2794=)
|
rs1573391972
|
|
NM_001035.3(RYR2):c.8389A>G (p.Ser2797Gly)
|
|
|
NM_001035.3(RYR2):c.8391C>T (p.Ser2797=)
|
|
|
NM_001035.3(RYR2):c.8396C>G (p.Ala2799Gly)
|
|
|
NM_001035.3(RYR2):c.8399T>C (p.Leu2800Pro)
|
|
|
NM_001035.3(RYR2):c.839T>C (p.Leu280Pro)
|
rs794728716
|
|
NM_001035.3(RYR2):c.840A>C (p.Leu280=)
|
rs1473940228
|
|
NM_001035.3(RYR2):c.8413C>T (p.Arg2805Cys)
|
|
|
NM_001035.3(RYR2):c.8428A>G (p.Thr2810Ala)
|
|
|
NM_001035.3(RYR2):c.8433C>T (p.Ser2811=)
|
rs1573392353
|
|
NM_001035.3(RYR2):c.8434C>T (p.Gln2812Ter)
|
|
|
NM_001035.3(RYR2):c.8436+15C>A
|
|
|
NM_001035.3(RYR2):c.8436+16G>A
|
|
|
NM_001035.3(RYR2):c.8436+17G>A
|
|
|
NM_001035.3(RYR2):c.8437-18T>C
|
rs2148872506
|
|
NM_001035.3(RYR2):c.8437-3T>A
|
rs924080705
|
|
NM_001035.3(RYR2):c.8437-4C>T
|
|
|
NM_001035.3(RYR2):c.8437-5T>C
|
|
|
NM_001035.3(RYR2):c.8437-7G>C
|
rs770428535
|
|
NM_001035.3(RYR2):c.8437-8T>C
|
|
|
NM_001035.3(RYR2):c.8439T>G (p.Val2813=)
|
|
|
NM_001035.3(RYR2):c.8443G>A (p.Val2815Met)
|
|
|
NM_001035.3(RYR2):c.8453C>T (p.Ala2818Val)
|
rs794728759
|
|
NM_001035.3(RYR2):c.8454C>T (p.Ala2818=)
|
rs916645207
|
|
NM_001035.3(RYR2):c.8463C>T (p.Tyr2821=)
|
|
|
NM_001035.3(RYR2):c.846T>A (p.Val282=)
|
|
|
NM_001035.3(RYR2):c.8471G>A (p.Arg2824Gln)
|
|
|
NM_001035.3(RYR2):c.8473G>T (p.Ala2825Ser)
|
rs1553274352
|
|
NM_001035.3(RYR2):c.8475C>A (p.Ala2825=)
|
rs2148872803
|
|
NM_001035.3(RYR2):c.848+12T>G
|
|
|
NM_001035.3(RYR2):c.848+15T>G
|
|
|
NM_001035.3(RYR2):c.848+18A>G
|
|
|
NM_001035.3(RYR2):c.848+19C>T
|
|
|
NM_001035.3(RYR2):c.848+1G>C
|
rs772984053
|
|
NM_001035.3(RYR2):c.848+21_848+22del
|
|
|
NM_001035.3(RYR2):c.848+2dup
|
rs794728833
|
|
NM_001035.3(RYR2):c.8482A>G (p.Met2828Val)
|
rs948094250
|
|
NM_001035.3(RYR2):c.8482A>T (p.Met2828Leu)
|
|
|
NM_001035.3(RYR2):c.848C>G (p.Ala283Gly)
|
|
|
NM_001035.3(RYR2):c.849-12T>C
|
|
|
NM_001035.3(RYR2):c.849-16T>C
|
|
|
NM_001035.3(RYR2):c.849-5A>G
|
|
|
NM_001035.3(RYR2):c.84C>G (p.Ile28Met)
|
|
|
NM_001035.3(RYR2):c.8503A>G (p.Arg2835Gly)
|
rs2148872889
|
|
NM_001035.3(RYR2):c.8504G>A (p.Arg2835Lys)
|
|
|
NM_001035.3(RYR2):c.8508C>A (p.Asp2836Glu)
|
rs757197730
|
|
NM_001035.3(RYR2):c.8514+10A>T
|
rs2148872974
|
|
NM_001035.3(RYR2):c.8514+19T>A
|
|
|
NM_001035.3(RYR2):c.8514+1G>C
|
|
|
NM_001035.3(RYR2):c.8514+23_8514+24dup
|
|
|
NM_001035.3(RYR2):c.8514+30_8514+31insATTTAAAAATAGACTATTTAAAAATAGTCT
|
|
|
NM_001035.3(RYR2):c.8514+8C>G
|
|
|
NM_001035.3(RYR2):c.8515-18T>C
|
|
|
NM_001035.3(RYR2):c.8515-1G>A
|
|
|
NM_001035.3(RYR2):c.8519T>C (p.Met2840Thr)
|
|
|
NM_001035.3(RYR2):c.8522C>A (p.Ala2841Glu)
|
|
|
NM_001035.3(RYR2):c.8538A>G (p.Glu2846=)
|
rs1187397798
|
|
NM_001035.3(RYR2):c.8541C>T (p.Asn2847=)
|
rs2148878456
|
|
NM_001035.3(RYR2):c.8543A>G (p.Tyr2848Cys)
|
rs2148878470
|
|
NM_001035.3(RYR2):c.854G>T (p.Ser285Ile)
|
rs1342435908
|
|
NM_001035.3(RYR2):c.8550T>C (p.Asn2850=)
|
|
|
NM_001035.3(RYR2):c.8554T>C (p.Trp2852Arg)
|
|
|
NM_001035.3(RYR2):c.8565A>G (p.Lys2855=)
|
|
|
NM_001035.3(RYR2):c.8573TGGAGT[1] (p.Leu2860_Glu2861del)
|
rs794728835
|
|
NM_001035.3(RYR2):c.8575G>C (p.Glu2859Gln)
|
|
|
NM_001035.3(RYR2):c.8590+18C>A
|
rs376966521
|
|
NM_001035.3(RYR2):c.8590+19G>A
|
|
|
NM_001035.3(RYR2):c.8590+19G>T
|
|
|
NM_001035.3(RYR2):c.8590+5T>C
|
rs2148878658
|
|
NM_001035.3(RYR2):c.8590+6A>G
|
rs1684469954
|
|
NM_001035.3(RYR2):c.8591-11C>T
|
|
|
NM_001035.3(RYR2):c.8591-13G>A
|
|
|
NM_001035.3(RYR2):c.8591-16C>T
|
|
|
NM_001035.3(RYR2):c.8591-4T>G
|
rs1553277202
|
|
NM_001035.3(RYR2):c.8591-5C>G
|
|
|
NM_001035.3(RYR2):c.8591-9_8591-8del
|
|
|
NM_001035.3(RYR2):c.8591G>A (p.Gly2864Glu)
|
rs1186402933
|
|
NM_001035.3(RYR2):c.8595A>C (p.Gly2865=)
|
rs1573463108
|
|
NM_001035.3(RYR2):c.8595A>G (p.Gly2865=)
|
rs1573463108
|
|
NM_001035.3(RYR2):c.8596_8598del
|
rs794728836
|
|
NM_001035.3(RYR2):c.8599A>C (p.Asn2867His)
|
rs1685187563
|
|
NM_001035.3(RYR2):c.8616G>A (p.Val2872=)
|
rs1553277228
|
|
NM_001035.3(RYR2):c.8617C>T (p.Pro2873Ser)
|
rs1031049689
|
|
NM_001035.3(RYR2):c.8618C>T (p.Pro2873Leu)
|
|
|
NM_001035.3(RYR2):c.8619C>G (p.Pro2873=)
|
|
|
NM_001035.3(RYR2):c.8622T>C (p.Tyr2874=)
|
rs1573463340
|
|
NM_001035.3(RYR2):c.8641G>A (p.Glu2881Lys)
|
rs1685192501
|
|
NM_001035.3(RYR2):c.8642A>G (p.Glu2881Gly)
|
|
|
NM_001035.3(RYR2):c.8643G>A (p.Glu2881=)
|
rs749903392
|
|
NM_001035.3(RYR2):c.8648C>A (p.Ala2883Asp)
|
|
|
NM_001035.3(RYR2):c.8653G>T (p.Asp2885Tyr)
|
rs2148908834
|
|
NM_001035.3(RYR2):c.8661A>G (p.Glu2887=)
|
|
|
NM_001035.3(RYR2):c.8676C>T (p.Ile2892=)
|
|
|
NM_001035.3(RYR2):c.8677C>G (p.Leu2893Val)
|
rs1573463670
|
|
NM_001035.3(RYR2):c.8683T>C (p.Phe2895Leu)
|
|
|
NM_001035.3(RYR2):c.8702A>C (p.Tyr2901Ser)
|
|
|
NM_001035.3(RYR2):c.8709A>G (p.Val2903=)
|
|
|
NM_001035.3(RYR2):c.8713A>G (p.Arg2905Gly)
|
|
|
NM_001035.3(RYR2):c.8714+11A>G
|
rs1270886614
|
|
NM_001035.3(RYR2):c.8714+6A>G
|
rs1573463852
|
|
NM_001035.3(RYR2):c.8714+9A>G
|
rs541149328
|
|
NM_001035.3(RYR2):c.8715-10del
|
|
|
NM_001035.3(RYR2):c.8715-16A>G
|
|
|
NM_001035.3(RYR2):c.8715-16A>T
|
|
|
NM_001035.3(RYR2):c.8715-2A>G
|
|
|
NM_001035.3(RYR2):c.8715-4C>G
|
rs1024126701
|
|
NM_001035.3(RYR2):c.8715-9C>T
|
|
|
NM_001035.3(RYR2):c.8718A>C (p.Gly2906=)
|
|
|
NM_001035.3(RYR2):c.8724G>A (p.Lys2908=)
|
|
|
NM_001035.3(RYR2):c.8727C>G (p.Asp2909Glu)
|
rs1685250255
|
|
NM_001035.3(RYR2):c.8740A>G (p.Thr2914Ala)
|
|
|
NM_001035.3(RYR2):c.8741C>T (p.Thr2914Met)
|
|
|
NM_001035.3(RYR2):c.8744C>T (p.Pro2915Leu)
|
|
|
NM_001035.3(RYR2):c.8750T>C (p.Ile2917Thr)
|
|
|
NM_001035.3(RYR2):c.8754G>A (p.Glu2918=)
|
rs2148911647
|
|
NM_001035.3(RYR2):c.8757A>G (p.Lys2919=)
|
rs1685252629
|
|
NM_001035.3(RYR2):c.8759G>A (p.Arg2920Gln)
|
rs756302327
|
|
NM_001035.3(RYR2):c.8759G>C (p.Arg2920Pro)
|
rs756302327
|
|
NM_001035.3(RYR2):c.8759G>T (p.Arg2920Leu)
|
rs756302327
|
|
NM_001035.3(RYR2):c.8767T>G (p.Tyr2923Asp)
|
|
|
NM_001035.3(RYR2):c.8768A>G (p.Tyr2923Cys)
|
rs926338576
|
|
NM_001035.3(RYR2):c.8775C>T (p.Phe2925=)
|
|
|
NM_001035.3(RYR2):c.8785C>T (p.Leu2929Phe)
|
rs2148911764
|
|
NM_001035.3(RYR2):c.8790T>A (p.Ile2930=)
|
|
|
NM_001035.3(RYR2):c.8792G>A (p.Arg2931His)
|
rs905226907
|
|
NM_001035.3(RYR2):c.8795A>T (p.Tyr2932Phe)
|
|
|
NM_001035.3(RYR2):c.8801A>G (p.Asp2934Gly)
|
|
|
NM_001035.3(RYR2):c.8810A>G (p.His2937Arg)
|
|
|
NM_001035.3(RYR2):c.8813A>G (p.Gln2938Arg)
|
rs1685257592
|
|
NM_001035.3(RYR2):c.8818A>G (p.Ile2940Val)
|
|
|
NM_001035.3(RYR2):c.8819T>C (p.Ile2940Thr)
|
|
|
NM_001035.3(RYR2):c.8826G>A (p.Glu2942=)
|
|
|
NM_001035.3(RYR2):c.882A>G (p.Pro294=)
|
rs1553446366
|
|
NM_001035.3(RYR2):c.882A>T (p.Pro294=)
|
|
|
NM_001035.3(RYR2):c.8830+10A>G
|
|
|
NM_001035.3(RYR2):c.8830+11T>C
|
|
|
NM_001035.3(RYR2):c.8830+16C>T
|
|
|
NM_001035.3(RYR2):c.8830+4G>A
|
|
|
NM_001035.3(RYR2):c.8831-14C>T
|
|
|
NM_001035.3(RYR2):c.8831-17A>G
|
|
|
NM_001035.3(RYR2):c.8831-7T>C
|
rs2148925899
|
|
NM_001035.3(RYR2):c.8831-8A>G
|
|
|
NM_001035.3(RYR2):c.8834G>A (p.Gly2945Asp)
|
|
|
NM_001035.3(RYR2):c.8838C>T (p.Gly2946=)
|
rs758912397
|
|
NM_001035.3(RYR2):c.8844A>G (p.Arg2948=)
|
|
|
NM_001035.3(RYR2):c.8846G>T (p.Gly2949Val)
|
rs1399706297
|
|
NM_001035.3(RYR2):c.8849A>G (p.Lys2950Arg)
|
|
|
NM_001035.3(RYR2):c.8862C>T (p.Phe2954=)
|
rs2148926083
|
|
NM_001035.3(RYR2):c.886C>T (p.Arg296Ter)
|
|
|
NM_001035.3(RYR2):c.8872C>A (p.Gln2958Lys)
|
|
|
NM_001035.3(RYR2):c.8872C>G (p.Gln2958Glu)
|
|
|
NM_001035.3(RYR2):c.8877A>C (p.Glu2959Asp)
|
|
|
NM_001035.3(RYR2):c.8879T>A (p.Ile2960Asn)
|
rs759048462
|
|
NM_001035.3(RYR2):c.887G>A (p.Arg296Gln)
|
rs1705763277
|
|
NM_001035.3(RYR2):c.8880C>G (p.Ile2960Met)
|
|
|
NM_001035.3(RYR2):c.8880C>T (p.Ile2960=)
|
rs1573480855
|
|
NM_001035.3(RYR2):c.8886C>A (p.Phe2962Leu)
|
rs372703473
|
|
NM_001035.3(RYR2):c.888A>G (p.Arg296=)
|
rs1263386810
|
|
NM_001035.3(RYR2):c.8892A>T (p.Ala2964=)
|
rs1230616298
|
|
NM_001035.3(RYR2):c.8895+12A>G
|
|
|
NM_001035.3(RYR2):c.8895+13A>G
|
|
|
NM_001035.3(RYR2):c.8895+15C>G
|
|
|
NM_001035.3(RYR2):c.8895+17A>G
|
|
|
NM_001035.3(RYR2):c.8895+17_8895+20del
|
|
|
NM_001035.3(RYR2):c.8895+6G>A
|
|
|
NM_001035.3(RYR2):c.8895+6G>C
|
|
|
NM_001035.3(RYR2):c.8895+7T>C
|
rs2148926350
|
|
NM_001035.3(RYR2):c.8896-17C>A
|
|
|
NM_001035.3(RYR2):c.8896-17_8896-15del
|
|
|
NM_001035.3(RYR2):c.8896-18T>G
|
|
|
NM_001035.3(RYR2):c.8896-1G>A
|
rs2148936331
|
|
NM_001035.3(RYR2):c.8898C>T (p.Val2966=)
|
rs766514100
|
|
NM_001035.3(RYR2):c.8907T>C (p.Pro2969=)
|
|
|
NM_001035.3(RYR2):c.8911A>G (p.Ile2971Val)
|
rs1685776923
|
|
NM_001035.3(RYR2):c.8912T>A (p.Ile2971Asn)
|
|
|
NM_001035.3(RYR2):c.8919G>A (p.Gln2973=)
|
rs1281776816
|
|
NM_001035.3(RYR2):c.8921A>G (p.Tyr2974Cys)
|
rs1685778254
|
|
NM_001035.3(RYR2):c.8926A>C (p.Lys2976Gln)
|
|
|
NM_001035.3(RYR2):c.8926A>G (p.Lys2976Glu)
|
|
|
NM_001035.3(RYR2):c.8927A>G (p.Lys2976Arg)
|
rs1558206523
|
|
NM_001035.3(RYR2):c.8935C>T (p.Arg2979Cys)
|
rs1685779180
|
|
NM_001035.3(RYR2):c.893G>T (p.Arg298Leu)
|
rs754259295
|
|
NM_001035.3(RYR2):c.8942A>G (p.Tyr2981Cys)
|
|
|
NM_001035.3(RYR2):c.8955A>G (p.Ala2985=)
|
|
|
NM_001035.3(RYR2):c.8972G>A (p.Cys2991Tyr)
|
rs1685782698
|
|
NM_001035.3(RYR2):c.8991C>T (p.Ser2997=)
|
|
|
NM_001035.3(RYR2):c.8995A>G (p.Lys2999Glu)
|
|
|
NM_001035.3(RYR2):c.9003del (p.Glu3002fs)
|
|
|
NM_001035.3(RYR2):c.900C>T (p.Val300=)
|
rs2150058236
|
|
NM_001035.3(RYR2):c.9012G>A (p.Val3004=)
|
|
|
NM_001035.3(RYR2):c.9017+15A>G
|
|
|
NM_001035.3(RYR2):c.9017+16A>T
|
|
|
NM_001035.3(RYR2):c.9017+6C>T
|
rs1685786232
|
|
NM_001035.3(RYR2):c.9017+8G>A
|
|
|
NM_001035.3(RYR2):c.9018-17_9018-7del
|
rs1686523446
|
|
NM_001035.3(RYR2):c.9018-6del
|
rs1573523409
|
|
NM_001035.3(RYR2):c.9028A>G (p.Lys3010Glu)
|
rs1686529459
|
|
NM_001035.3(RYR2):c.902C>G (p.Thr301Arg)
|
|
|
NM_001035.3(RYR2):c.9037G>A (p.Val3013Ile)
|
|
|
NM_001035.3(RYR2):c.9042T>A (p.Leu3014=)
|
|
|
NM_001035.3(RYR2):c.9043G>C (p.Val3015Leu)
|
rs1490052579
|
|
NM_001035.3(RYR2):c.9044T>G (p.Val3015Gly)
|
|
|
NM_001035.3(RYR2):c.9046A>G (p.Arg3016Gly)
|
rs2148969159
|
|
NM_001035.3(RYR2):c.9048G>A (p.Arg3016=)
|
|
|
NM_001035.3(RYR2):c.904A>G (p.Thr302Ala)
|
rs1178740695
|
|
NM_001035.3(RYR2):c.905C>T (p.Thr302Ile)
|
rs1705765771
|
|
NM_001035.3(RYR2):c.9060A>G (p.Ser3020=)
|
|
|
NM_001035.3(RYR2):c.9067+11C>T
|
|
|
NM_001035.3(RYR2):c.9067+17A>C
|
|
|
NM_001035.3(RYR2):c.9067+18A>G
|
|
|
NM_001035.3(RYR2):c.9067+1G>C
|
|
|
NM_001035.3(RYR2):c.9067+9A>G
|
|
|
NM_001035.3(RYR2):c.9068-18A>C
|
rs1036402862
|
|
NM_001035.3(RYR2):c.9068-3T>C
|
rs1273937983
|
|
NM_001035.3(RYR2):c.9068-6C>G
|
|
|
NM_001035.3(RYR2):c.9068-9C>G
|
rs2149026201
|
|
NM_001035.3(RYR2):c.9068G>T (p.Gly3023Val)
|
rs1687729156
|
|
NM_001035.3(RYR2):c.9069C>T (p.Gly3023=)
|
|
|
NM_001035.3(RYR2):c.9072T>A (p.Asn3024Lys)
|
|
|
NM_001035.3(RYR2):c.9073G>A (p.Asp3025Asn)
|
rs1687730026
|
|
NM_001035.3(RYR2):c.9079A>G (p.Thr3027Ala)
|
|
|
NM_001035.3(RYR2):c.907G>A (p.Gly303Arg)
|
rs1705766226
|
|
NM_001035.3(RYR2):c.908G>A (p.Gly303Glu)
|
|
|
NM_001035.3(RYR2):c.9095G>C (p.Cys3032Ser)
|
|
|
NM_001035.3(RYR2):c.9095_9098del (p.Cys3032fs)
|
|
|
NM_001035.3(RYR2):c.90A>G (p.Lys30=)
|
rs1366634657
|
|
NM_001035.3(RYR2):c.9105T>C (p.Ile3035=)
|
rs1687732005
|
|
NM_001035.3(RYR2):c.910A>G (p.Lys304Glu)
|
|
|
NM_001035.3(RYR2):c.9114G>A (p.Gln3038=)
|
|
|
NM_001035.3(RYR2):c.9116C>G (p.Thr3039Ser)
|
|
|
NM_001035.3(RYR2):c.9123T>C (p.Asp3041=)
|
|
|
NM_001035.3(RYR2):c.9125C>A (p.Ala3042Glu)
|
rs794728762
|
|
NM_001035.3(RYR2):c.9128+18dup
|
|
|
NM_001035.3(RYR2):c.9128+5del
|
rs1553289116
|
|
NM_001035.3(RYR2):c.9129-10T>A
|
rs876657993
|
|
NM_001035.3(RYR2):c.9129-14T>C
|
|
|
NM_001035.3(RYR2):c.9129-20C>T
|
|
|
NM_001035.3(RYR2):c.9129-7T>C
|
rs1466669135
|
|
NM_001035.3(RYR2):c.9129-7T>G
|
rs1466669135
|
|
NM_001035.3(RYR2):c.9129G>A (p.Arg3043=)
|
rs1687847434
|
|
NM_001035.3(RYR2):c.9134T>C (p.Val3045Ala)
|
rs1687848357
|
|
NM_001035.3(RYR2):c.9135G>A (p.Val3045=)
|
rs2149031134
|
|
NM_001035.3(RYR2):c.9148C>A (p.Leu3050Met)
|
|
|
NM_001035.3(RYR2):c.9159T>A (p.Val3053=)
|
|
|
NM_001035.3(RYR2):c.916T>C (p.Leu306=)
|
rs1159486360
|
|
NM_001035.3(RYR2):c.9174A>G (p.Arg3058=)
|
rs1050820001
|
|
NM_001035.3(RYR2):c.917T>G (p.Leu306Trp)
|
rs2150058362
|
|
NM_001035.3(RYR2):c.9182T>G (p.Leu3061Arg)
|
rs1687852877
|
|
NM_001035.3(RYR2):c.9187A>G (p.Asn3063Asp)
|
rs889751102
|
|
NM_001035.3(RYR2):c.919A>G (p.Ser307Gly)
|
|
|
NM_001035.3(RYR2):c.9214A>G (p.Met3072Val)
|
|
|
NM_001035.3(RYR2):c.9215T>C (p.Met3072Thr)
|
rs2149031471
|
|
NM_001035.3(RYR2):c.9221A>C (p.Asn3074Thr)
|
|
|
NM_001035.3(RYR2):c.9222C>T (p.Asn3074=)
|
|
|
NM_001035.3(RYR2):c.9223C>A (p.Leu3075Ile)
|
rs1243072954
|
|
NM_001035.3(RYR2):c.9231G>A (p.Gln3077=)
|
rs2149031536
|
|
NM_001035.3(RYR2):c.9234C>A (p.Gly3078=)
|
|
|
NM_001035.3(RYR2):c.9237G>A (p.Gln3079=)
|
|
|
NM_001035.3(RYR2):c.9248C>A (p.Thr3083Asn)
|
|
|
NM_001035.3(RYR2):c.9249C>T (p.Thr3083=)
|
|
|
NM_001035.3(RYR2):c.9250C>A (p.Arg3084=)
|
rs1356957973
|
|
NM_001035.3(RYR2):c.9250C>G (p.Arg3084Gly)
|
|
|
NM_001035.3(RYR2):c.9255C>G (p.Asn3085Lys)
|
|
|
NM_001035.3(RYR2):c.9269T>C (p.Val3090Ala)
|
|
|
NM_001035.3(RYR2):c.9271A>C (p.Thr3091Pro)
|
|
|
NM_001035.3(RYR2):c.9296T>C (p.Val3099Ala)
|
rs1687862870
|
|
NM_001035.3(RYR2):c.9301C>G (p.Leu3101Val)
|
|
|
NM_001035.3(RYR2):c.9303dup (p.Leu3102fs)
|
|
|
NM_001035.3(RYR2):c.9307C>G (p.Pro3103Ala)
|
|
|
NM_001035.3(RYR2):c.9308C>G (p.Pro3103Arg)
|
rs1208496897
|
|
NM_001035.3(RYR2):c.9308C>T (p.Pro3103Leu)
|
rs1208496897
|
|
NM_001035.3(RYR2):c.9312G>C (p.Met3104Ile)
|
rs1687864137
|
|
NM_001035.3(RYR2):c.9317_9318delinsTG (p.Ser3106Leu)
|
rs1687864745
|
|
NM_001035.3(RYR2):c.9318T>A (p.Ser3106=)
|
rs2797436
|
|
NM_001035.3(RYR2):c.9318T>G (p.Ser3106=)
|
rs2797436
|
|
NM_001035.3(RYR2):c.9321A>G (p.Ser3107=)
|
|
|
NM_001035.3(RYR2):c.9324A>G (p.Leu3108=)
|
rs1687865785
|
|
NM_001035.3(RYR2):c.9333T>C (p.His3111=)
|
rs965167497
|
|
NM_001035.3(RYR2):c.9336T>C (p.Ile3112=)
|
rs748626622
|
|
NM_001035.3(RYR2):c.9340C>T (p.Gln3114Ter)
|
|
|
NM_001035.3(RYR2):c.9344A>G (p.His3115Arg)
|
|
|
NM_001035.3(RYR2):c.9346C>T (p.Gln3116Ter)
|
|
|
NM_001035.3(RYR2):c.9358G>C (p.Asp3120His)
|
rs794728764
|
|
NM_001035.3(RYR2):c.9366A>G (p.Ile3122Met)
|
rs1687868751
|
|
NM_001035.3(RYR2):c.9367+16T>A
|
rs775099398
|
|
NM_001035.3(RYR2):c.9367+17C>A
|
|
|
NM_001035.3(RYR2):c.9367+20G>T
|
|
|
NM_001035.3(RYR2):c.9367+21del
|
|
|
NM_001035.3(RYR2):c.9367+4T>C
|
rs1687869394
|
|
NM_001035.3(RYR2):c.9367+6T>C
|
|
|
NM_001035.3(RYR2):c.9367T>C (p.Leu3123=)
|
rs2149032196
|
|
NM_001035.3(RYR2):c.9368-11T>C
|
|
|
NM_001035.3(RYR2):c.9368-12C>G
|
|
|
NM_001035.3(RYR2):c.9368-12_9368-11del
|
|
|
NM_001035.3(RYR2):c.9368-13T>C
|
|
|
NM_001035.3(RYR2):c.9368-16T>A
|
|
|
NM_001035.3(RYR2):c.9368-4T>A
|
rs755202469
|
|
NM_001035.3(RYR2):c.9373G>C (p.Asp3125His)
|
|
|
NM_001035.3(RYR2):c.9375T>C (p.Asp3125=)
|
|
|
NM_001035.3(RYR2):c.9384G>A (p.Val3128=)
|
rs1225100895
|
|
NM_001035.3(RYR2):c.9387T>C (p.Ser3129=)
|
rs1688006622
|
|
NM_001035.3(RYR2):c.938A>T (p.Asn313Ile)
|
|
|
NM_001035.3(RYR2):c.9392A>C (p.Tyr3131Ser)
|
|
|
NM_001035.3(RYR2):c.9392A>G (p.Tyr3131Cys)
|
rs1342384519
|
|
NM_001035.3(RYR2):c.9393T>C (p.Tyr3131=)
|
|
|
NM_001035.3(RYR2):c.9402G>C (p.Leu3134=)
|
rs1688007851
|
|
NM_001035.3(RYR2):c.9408C>T (p.Ser3136=)
|
rs1688008727
|
|
NM_001035.3(RYR2):c.9411A>G (p.Leu3137=)
|
|
|
NM_001035.3(RYR2):c.9412T>C (p.Tyr3138His)
|
rs794728765
|
|
NM_001035.3(RYR2):c.9413A>G (p.Tyr3138Cys)
|
rs1558249723
|
|
NM_001035.3(RYR2):c.9417T>G (p.Ala3139=)
|
rs765394638
|
|
NM_001035.3(RYR2):c.9419T>A (p.Leu3140Ter)
|
|
|
NM_001035.3(RYR2):c.9429C>G (p.Ser3143Arg)
|
|
|
NM_001035.3(RYR2):c.942_944del (p.Leu316del)
|
rs749937926
|
|
NM_001035.3(RYR2):c.9432G>C (p.Lys3144Asn)
|
|
|
NM_001035.3(RYR2):c.9433A>G (p.Ser3145Gly)
|
|
|
NM_001035.3(RYR2):c.9433A>T (p.Ser3145Cys)
|
|
|
NM_001035.3(RYR2):c.9434G>T (p.Ser3145Ile)
|
rs1688011604
|
|
NM_001035.3(RYR2):c.9445G>A (p.Glu3149Lys)
|
|
|
NM_001035.3(RYR2):c.9449+15_9449+21del
|
|
|
NM_001035.3(RYR2):c.9449+15dup
|
|
|
NM_001035.3(RYR2):c.9449+16G>T
|
|
|
NM_001035.3(RYR2):c.9449+6A>G
|
rs2149038687
|
|
NM_001035.3(RYR2):c.9449+9G>A
|
|
|
NM_001035.3(RYR2):c.9450-15A>G
|
|
|
NM_001035.3(RYR2):c.9450-19A>G
|
|
|
NM_001035.3(RYR2):c.9450-4A>C
|
rs1006436726
|
|
NM_001035.3(RYR2):c.9455G>A (p.Arg3152His)
|
|
|
NM_001035.3(RYR2):c.9457T>C (p.Ser3153Pro)
|
|
|
NM_001035.3(RYR2):c.9458C>T (p.Ser3153Phe)
|
|
|
NM_001035.3(RYR2):c.9465A>G (p.Leu3155=)
|
rs1688273184
|
|
NM_001035.3(RYR2):c.9477A>G (p.Leu3159=)
|
rs967916943
|
|
NM_001035.3(RYR2):c.9478G>C (p.Ala3160Pro)
|
rs1444464397
|
|
NM_001035.3(RYR2):c.9483C>G (p.Ala3161=)
|
|
|
NM_001035.3(RYR2):c.9491G>A (p.Gly3164Asp)
|
|
|
NM_001035.3(RYR2):c.9493G>A (p.Ala3165Thr)
|
|
|
NM_001035.3(RYR2):c.9494C>T (p.Ala3165Val)
|
|
|
NM_001035.3(RYR2):c.9495T>G (p.Ala3165=)
|
|
|
NM_001035.3(RYR2):c.949A>G (p.Met317Val)
|
rs754558924
|
|
NM_001035.3(RYR2):c.94C>A (p.Gln32Lys)
|
rs1553373926
|
|
NM_001035.3(RYR2):c.94C>G (p.Gln32Glu)
|
|
|
NM_001035.3(RYR2):c.9501T>A (p.Pro3167=)
|
|
|
NM_001035.3(RYR2):c.9502G>A (p.Val3168Ile)
|
rs1473666484
|
|
NM_001035.3(RYR2):c.9506C>A (p.Ala3169Glu)
|
|
|
NM_001035.3(RYR2):c.9506C>G (p.Ala3169Gly)
|
|
|
NM_001035.3(RYR2):c.9508T>C (p.Phe3170Leu)
|
|
|
NM_001035.3(RYR2):c.9517A>C (p.Thr3173Pro)
|
|
|
NM_001035.3(RYR2):c.9521A>G (p.His3174Arg)
|
|
|
NM_001035.3(RYR2):c.9522T>A (p.His3174Gln)
|
|
|
NM_001035.3(RYR2):c.9526G>T (p.Asp3176Tyr)
|
rs761272070
|
|
NM_001035.3(RYR2):c.9552C>T (p.Tyr3184=)
|
rs1321006730
|
|
NM_001035.3(RYR2):c.9554A>C (p.Asn3185Thr)
|
|
|
NM_001035.3(RYR2):c.9559A>T (p.Lys3187Ter)
|
rs939109036
|
|
NM_001035.3(RYR2):c.9568C>T (p.Arg3190Ter)
|
rs1484075889
|
|
NM_001035.3(RYR2):c.9578C>G (p.Ala3193Gly)
|
rs1412111895
|
|
NM_001035.3(RYR2):c.957A>G (p.Lys319=)
|
|
|
NM_001035.3(RYR2):c.9580+18G>T
|
|
|
NM_001035.3(RYR2):c.9580+19C>T
|
|
|
NM_001035.3(RYR2):c.9580+6A>C
|
rs2149050610
|
|
NM_001035.3(RYR2):c.9580+6A>G
|
|
|
NM_001035.3(RYR2):c.9580+8A>G
|
|
|
NM_001035.3(RYR2):c.9581-15T>C
|
|
|
NM_001035.3(RYR2):c.9581-16A>G
|
|
|
NM_001035.3(RYR2):c.9581-4C>T
|
|
|
NM_001035.3(RYR2):c.9581-545C>A
|
rs12040571
|
|
NM_001035.3(RYR2):c.9581-545C>T
|
|
|
NM_001035.3(RYR2):c.9581-8T>C
|
rs1558258551
|
|
NM_001035.3(RYR2):c.9581-9C>T
|
rs2149057929
|
|
NM_001035.3(RYR2):c.9586del (p.Ser3196fs)
|
|
|
NM_001035.3(RYR2):c.9590T>C (p.Leu3197Ser)
|
|
|
NM_001035.3(RYR2):c.9592C>G (p.Pro3198Ala)
|
|
|
NM_001035.3(RYR2):c.9594A>G (p.Pro3198=)
|
rs1448241605
|
|
NM_001035.3(RYR2):c.9599A>C (p.Asn3200Thr)
|
rs1688433173
|
|
NM_001035.3(RYR2):c.9600T>C (p.Asn3200=)
|
rs772853405
|
|
NM_001035.3(RYR2):c.9601G>A (p.Val3201Met)
|
rs762549821
|
|
NM_001035.3(RYR2):c.960G>A (p.Glu320=)
|
rs1572253938
|
|
NM_001035.3(RYR2):c.9614G>T (p.Cys3205Phe)
|
rs2149058149
|
|
NM_001035.3(RYR2):c.9618A>C (p.Pro3206=)
|
rs1314966595
|
|
NM_001035.3(RYR2):c.9618A>G (p.Pro3206=)
|
rs1314966595
|
|
NM_001035.3(RYR2):c.9625C>T (p.Pro3209Ser)
|
rs767375014
|
|
NM_001035.3(RYR2):c.963A>T (p.Lys321Asn)
|
rs794728717
|
|
NM_001035.3(RYR2):c.9642_9643delinsT (p.Met3215fs)
|
rs1558258790
|
|
NM_001035.3(RYR2):c.9645G>A (p.Met3215Ile)
|
rs1688437148
|
|
NM_001035.3(RYR2):c.9645G>T (p.Met3215Ile)
|
|
|
NM_001035.3(RYR2):c.9654C>T (p.Ile3218=)
|
rs1472161324
|
|
NM_001035.3(RYR2):c.9657G>A (p.Val3219=)
|
|
|
NM_001035.3(RYR2):c.9669G>A (p.Glu3223=)
|
|
|
NM_001035.3(RYR2):c.9676A>G (p.Ile3226Val)
|
|
|
NM_001035.3(RYR2):c.9680G>C (p.Arg3227Pro)
|
|
|
NM_001035.3(RYR2):c.9683A>G (p.Tyr3228Cys)
|
|
|
NM_001035.3(RYR2):c.9684C>T (p.Tyr3228=)
|
|
|
NM_001035.3(RYR2):c.9693G>A (p.Met3231Ile)
|
rs748858246
|
|
NM_001035.3(RYR2):c.9693G>T (p.Met3231Ile)
|
rs748858246
|
|
NM_001035.3(RYR2):c.9694C>T (p.Pro3232Ser)
|
rs1688442582
|
|
NM_001035.3(RYR2):c.9698A>G (p.His3233Arg)
|
rs1386204884
|
|
NM_001035.3(RYR2):c.9699T>C (p.His3233=)
|
|
|
NM_001035.3(RYR2):c.969T>G (p.Asp323Glu)
|
|
|
NM_001035.3(RYR2):c.9701T>C (p.Val3234Ala)
|
|
|
NM_001035.3(RYR2):c.9703A>T (p.Met3235Leu)
|
rs773957909
|
|
NM_001035.3(RYR2):c.9711C>T (p.Val3237=)
|
|
|
NM_001035.3(RYR2):c.9721A>G (p.Met3241Val)
|
rs1408171604
|
|
NM_001035.3(RYR2):c.9722T>C (p.Met3241Thr)
|
|
|
NM_001035.3(RYR2):c.9723G>T (p.Met3241Ile)
|
|
|
NM_001035.3(RYR2):c.9724C>T (p.Leu3242Phe)
|
rs1060500147
|
|
NM_001035.3(RYR2):c.972A>G (p.Val324=)
|
|
|
NM_001035.3(RYR2):c.9732C>T (p.Ser3244=)
|
|
|
NM_001035.3(RYR2):c.9734A>G (p.Tyr3245Cys)
|
|
|
NM_001035.3(RYR2):c.9756T>C (p.His3252=)
|
rs2149059008
|
|
NM_001035.3(RYR2):c.9759A>C (p.Gly3253=)
|
rs1553293285
|
|
NM_001035.3(RYR2):c.9762T>C (p.Pro3254=)
|
rs764355636
|
|
NM_001035.3(RYR2):c.9765G>C (p.Glu3255Asp)
|
rs1558259322
|
|
NM_001035.3(RYR2):c.9770A>G (p.Asn3257Ser)
|
rs1167753426
|
|
NM_001035.3(RYR2):c.9784G>A (p.Glu3262Lys)
|
|
|
NM_001035.3(RYR2):c.9787A>T (p.Met3263Leu)
|
rs1014875855
|
|
NM_001035.3(RYR2):c.9799G>A (p.Ala3267Thr)
|
|
|
NM_001035.3(RYR2):c.9800C>T (p.Ala3267Val)
|
rs2149059247
|
|
NM_001035.3(RYR2):c.9807C>T (p.Asn3269=)
|
rs1553293326
|
|
NM_001035.3(RYR2):c.9808T>A (p.Ser3270Thr)
|
|
|
NM_001035.3(RYR2):c.9816C>T (p.His3272=)
|
rs2149059346
|
|
NM_001035.3(RYR2):c.9824C>T (p.Thr3275Ile)
|
rs756918556
|
|
NM_001035.3(RYR2):c.9826C>T (p.Leu3276Phe)
|
|
|
NM_001035.3(RYR2):c.9827T>C (p.Leu3276Pro)
|
|
|
NM_001035.3(RYR2):c.982G>T (p.Ala328Ser)
|
|
|
NM_001035.3(RYR2):c.9830T>C (p.Leu3277Pro)
|
|
|
NM_001035.3(RYR2):c.9844A>C (p.Lys3282Gln)
|
|
|
NM_001035.3(RYR2):c.9844A>G (p.Lys3282Glu)
|
|
|
NM_001035.3(RYR2):c.9848T>C (p.Ile3283Thr)
|
|
|
NM_001035.3(RYR2):c.9850A>G (p.Ile3284Val)
|
rs1688456675
|
|
NM_001035.3(RYR2):c.9852A>T (p.Ile3284=)
|
|
|
NM_001035.3(RYR2):c.9884G>A (p.Trp3295Ter)
|
rs2149059730
|
|
NM_001035.3(RYR2):c.9886A>T (p.Met3296Leu)
|
rs1688459724
|
|
NM_001035.3(RYR2):c.9887T>C (p.Met3296Thr)
|
rs876661390
|
|
NM_001035.3(RYR2):c.9897A>G (p.Leu3299=)
|
|
|
NM_001035.3(RYR2):c.9901+19C>G
|
rs1226976865
|
|
NM_001035.3(RYR2):c.9901+20A>G
|
|
|
NM_001035.3(RYR2):c.9901+9T>A
|
rs1553293394
|
|
NM_001035.3(RYR2):c.9902-17T>C
|
|
|
NM_001035.3(RYR2):c.9918A>G (p.Ile3306Met)
|
|
|
NM_001035.3(RYR2):c.9920T>C (p.Ile3307Thr)
|
|
|
NM_001035.3(RYR2):c.9922A>G (p.Asn3308Asp)
|
rs1688594106
|
|
NM_001035.3(RYR2):c.9926A>G (p.Lys3309Arg)
|
rs2149066547
|
|
NM_001035.3(RYR2):c.9943T>C (p.Leu3315=)
|
rs2149066640
|
|
NM_001035.3(RYR2):c.9948A>C (p.Lys3316Asn)
|
|
|
NM_001035.3(RYR2):c.9950C>T (p.Thr3317Ile)
|
|
|
NM_001035.3(RYR2):c.9951T>C (p.Thr3317=)
|
|
|
NM_001035.3(RYR2):c.9954T>C (p.His3318=)
|
rs371965471
|
|
NM_001035.3(RYR2):c.9958T>G (p.Leu3320Val)
|
rs986776770
|
|
NM_001035.3(RYR2):c.9967A>G (p.Met3323Val)
|
rs773288086
|
|
NM_001035.3(RYR2):c.9972G>A (p.Glu3324=)
|
|
|
NM_001035.3(RYR2):c.9974A>G (p.Lys3325Arg)
|
rs1427986585
|
|
NM_001035.3(RYR2):c.9978C>G (p.Leu3326=)
|
|
|
NM_001035.3(RYR2):c.9982A>G (p.Lys3328Glu)
|
rs763136948
|
|
NM_001035.3(RYR2):c.9988G>A (p.Ala3330Thr)
|
rs1688598517
|
|
NM_001035.3(RYR2):c.998C>T (p.Ser333Phe)
|
rs397516552
|
|
NM_001035.3(RYR2):c.9992C>A (p.Ala3331Asp)
|
|
|
NM_001035.3(RYR2):c.9996G>C (p.Thr3332=)
|
|
|
NM_001035.3(RYR2):c.9999G>A (p.Val3333=)
|
|
|
NM_001035.3(RYR2):c.999T>C (p.Ser333=)
|
|
|
NM_001232.4(CASQ2):c.1006G>C (p.Val336Leu)
|
|
|
NM_001232.4(CASQ2):c.1011A>G (p.Thr337=)
|
|
|
NM_001232.4(CASQ2):c.1014+10C>T
|
|
|
NM_001232.4(CASQ2):c.1014+11C>T
|
|
|
NM_001232.4(CASQ2):c.1014+13T>C
|
|
|
NM_001232.4(CASQ2):c.1014+14G>A
|
|
|
NM_001232.4(CASQ2):c.1014+16G>A
|
|
|
NM_001232.4(CASQ2):c.1014+1G>A
|
rs1654250819
|
|
NM_001232.4(CASQ2):c.1014+20G>A
|
|
|
NM_001232.4(CASQ2):c.1014+20G>T
|
rs369540921
|
|
NM_001232.4(CASQ2):c.1015-16T>C
|
|
|
NM_001232.4(CASQ2):c.1015-1G>A
|
rs1654202571
|
|
NM_001232.4(CASQ2):c.1015-20C>A
|
|
|
NM_001232.4(CASQ2):c.1015-6C>T
|
|
|
NM_001232.4(CASQ2):c.1017dup (p.Asp340Ter)
|
rs1553191909
|
|
NM_001232.4(CASQ2):c.101T>G (p.Val34Gly)
|
rs1280686043
|
|
NM_001232.4(CASQ2):c.1021A>G (p.Ser341Gly)
|
|
|
NM_001232.4(CASQ2):c.1028G>A (p.Trp343Ter)
|
|
|
NM_001232.4(CASQ2):c.1029G>C (p.Trp343Cys)
|
rs2101052355
|
|
NM_001232.4(CASQ2):c.1030A>T (p.Met344Leu)
|
rs1295335060
|
|
NM_001232.4(CASQ2):c.1041A>T (p.Pro347=)
|
|
|
NM_001232.4(CASQ2):c.1044TGA[1] (p.Asp351del)
|
|
|
NM_001232.4(CASQ2):c.1059A>C (p.Pro353=)
|
|
|
NM_001232.4(CASQ2):c.1059A>T (p.Pro353=)
|
rs754889548
|
|
NM_001232.4(CASQ2):c.1072C>T (p.Leu358=)
|
|
|
NM_001232.4(CASQ2):c.1082G>A (p.Trp361Ter)
|
|
|
NM_001232.4(CASQ2):c.1082G>C (p.Trp361Ser)
|
rs786205792
|
|
NM_001232.4(CASQ2):c.1119AGATGATGATGA[1] (p.373EDDD[1])
|
rs764957093
|
|
NM_001232.4(CASQ2):c.1122T>C (p.Asp374=)
|
|
|
NM_001232.4(CASQ2):c.1122TGA[2] (p.Asp376del)
|
rs202241842
|
|
NM_001232.4(CASQ2):c.1131A>G (p.Glu377=)
|
|
|
NM_001232.4(CASQ2):c.1131_1133del (p.Glu377del)
|
rs765914619
|
|
NM_001232.4(CASQ2):c.1132GAT[4] (p.Asp382_Asp383del)
|
|
|
NM_001232.4(CASQ2):c.1132GAT[5] (p.Asp383del)
|
rs72554069
|
|
NM_001232.4(CASQ2):c.1132GAT[7] (p.Asp383dup)
|
rs72554069
|
|
NM_001232.4(CASQ2):c.1133A>G (p.Asp378Gly)
|
|
|
NM_001232.4(CASQ2):c.1134T>A (p.Asp378Glu)
|
rs150486780
|
|
NM_001232.4(CASQ2):c.1137T>G (p.Asp379Glu)
|
rs776130201
|
|
NM_001232.4(CASQ2):c.1140T>C (p.Asp380=)
|
|
|
NM_001232.4(CASQ2):c.1146T>C (p.Asp382=)
|
|
|
NM_001232.4(CASQ2):c.1149T>A (p.Asp383Glu)
|
rs1206628721
|
|
NM_001232.4(CASQ2):c.114C>A (p.Ser38=)
|
rs571353035
|
|
NM_001232.4(CASQ2):c.115G>A (p.Glu39Lys)
|
rs756636650
|
|
NM_001232.4(CASQ2):c.115G>C (p.Glu39Gln)
|
|
|
NM_001232.4(CASQ2):c.115G>T (p.Glu39Ter)
|
rs756636650
|
|
NM_001232.4(CASQ2):c.1167T>C (p.Asp389=)
|
rs1557783672
|
|
NM_001232.4(CASQ2):c.1168A>G (p.Asn390Asp)
|
rs1570791816
|
|
NM_001232.4(CASQ2):c.1173T>C (p.Asp391=)
|
|
|
NM_001232.4(CASQ2):c.1176C>T (p.Asp392=)
|
|
|
NM_001232.4(CASQ2):c.1183G>C (p.Asp395His)
|
|
|
NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del)
|
rs397516641
|
|
NM_001232.4(CASQ2):c.1187A>T (p.Asp396Val)
|
|
|
NM_001232.4(CASQ2):c.1188T>A (p.Asp396Glu)
|
rs751885773
|
|
NM_001232.4(CASQ2):c.1188TGA[4] (p.Asp398dup)
|
rs72554070
|
|
NM_001232.4(CASQ2):c.118A>G (p.Lys40Glu)
|
rs786205797
|
|
NM_001232.4(CASQ2):c.1191T>C (p.Asp397=)
|
|
|
NM_001232.4(CASQ2):c.1192G>A (p.Asp398Asn)
|
rs1654192683
|
|
NM_001232.4(CASQ2):c.1197A>G (p.Glu399=)
|
rs1251308717
|
|
NM_001232.4(CASQ2):c.120G>A (p.Lys40=)
|
|
|
NM_001232.4(CASQ2):c.12T>C (p.Thr4=)
|
|
|
NM_001232.4(CASQ2):c.132G>A (p.Gln44=)
|
|
|
NM_001232.4(CASQ2):c.146A>G (p.Tyr49Cys)
|
|
|
NM_001232.4(CASQ2):c.150C>T (p.Asp50=)
|
rs1570867364
|
|
NM_001232.4(CASQ2):c.158G>A (p.Cys53Tyr)
|
rs151168851
|
|
NM_001232.4(CASQ2):c.15C>T (p.His5=)
|
|
|
NM_001232.4(CASQ2):c.165C>T (p.Tyr55=)
|
|
|
NM_001232.4(CASQ2):c.171T>C (p.His57=)
|
|
|
NM_001232.4(CASQ2):c.172G>T (p.Glu58Ter)
|
|
|
NM_001232.4(CASQ2):c.174G>A (p.Glu58=)
|
|
|
NM_001232.4(CASQ2):c.175C>A (p.Pro59Thr)
|
rs866858282
|
|
NM_001232.4(CASQ2):c.177G>T (p.Pro59=)
|
rs371260149
|
|
NM_001232.4(CASQ2):c.180G>C (p.Val60=)
|
|
|
NM_001232.4(CASQ2):c.199C>T (p.Gln67Ter)
|
|
|
NM_001232.4(CASQ2):c.205C>T (p.Gln69Ter)
|
|
|
NM_001232.4(CASQ2):c.207G>A (p.Gln69=)
|
|
|
NM_001232.4(CASQ2):c.210C>T (p.Phe70=)
|
rs774492523
|
|
NM_001232.4(CASQ2):c.226_227inv (p.Val76Thr)
|
|
|
NM_001232.4(CASQ2):c.22A>G (p.Ile8Val)
|
rs1649206559
|
|
NM_001232.4(CASQ2):c.231T>C (p.Leu77=)
|
rs2101130383
|
|
NM_001232.4(CASQ2):c.234+13A>T
|
|
|
NM_001232.4(CASQ2):c.234+17C>T
|
|
|
NM_001232.4(CASQ2):c.234+18A>G
|
|
|
NM_001232.4(CASQ2):c.234+20G>A
|
|
|
NM_001232.4(CASQ2):c.234+8A>C
|
|
|
NM_001232.4(CASQ2):c.234+9C>T
|
|
|
NM_001232.4(CASQ2):c.235-10del
|
|
|
NM_001232.4(CASQ2):c.235-14A>G
|
|
|
NM_001232.4(CASQ2):c.235-15C>T
|
|
|
NM_001232.4(CASQ2):c.235-17del
|
|
|
NM_001232.4(CASQ2):c.235-2A>G
|
rs1060502164
|
|
NM_001232.4(CASQ2):c.235-3C>T
|
rs1186837357
|
|
NM_001232.4(CASQ2):c.235-8T>C
|
rs2101101082
|
|
NM_001232.4(CASQ2):c.23T>C (p.Ile8Thr)
|
rs1553197935
|
|
NM_001232.4(CASQ2):c.240G>A (p.Val80=)
|
rs2101101070
|
|
NM_001232.4(CASQ2):c.240G>T (p.Val80=)
|
|
|
NM_001232.4(CASQ2):c.242C>T (p.Ala81Val)
|
rs1648331024
|
|
NM_001232.4(CASQ2):c.244C>T (p.Gln82Ter)
|
|
|
NM_001232.4(CASQ2):c.249C>T (p.Val83=)
|
|
|
NM_001232.4(CASQ2):c.250C>G (p.Leu84Val)
|
|
|
NM_001232.4(CASQ2):c.250C>T (p.Leu84Phe)
|
rs1274422352
|
|
NM_001232.4(CASQ2):c.265A>G (p.Ile89Val)
|
|
|
NM_001232.4(CASQ2):c.268G>C (p.Gly90Arg)
|
|
|
NM_001232.4(CASQ2):c.271T>C (p.Phe91Leu)
|
rs1181984320
|
|
NM_001232.4(CASQ2):c.278T>C (p.Met93Thr)
|
rs1328122344
|
|
NM_001232.4(CASQ2):c.286G>A (p.Ala96Thr)
|
rs2101100994
|
|
NM_001232.4(CASQ2):c.287C>G (p.Ala96Gly)
|
|
|
NM_001232.4(CASQ2):c.292A>G (p.Lys98Glu)
|
|
|
NM_001232.4(CASQ2):c.294A>G (p.Lys98=)
|
|
|
NM_001232.4(CASQ2):c.299C>T (p.Ala100Val)
|
|
|
NM_001232.4(CASQ2):c.2T>C (p.Met1Thr)
|
rs1553197939
|
|
NM_001232.4(CASQ2):c.303G>A (p.Lys101=)
|
|
|
NM_001232.4(CASQ2):c.305T>A (p.Leu102His)
|
|
|
NM_001232.4(CASQ2):c.306T>G (p.Leu102=)
|
|
|
NM_001232.4(CASQ2):c.319+10A>T
|
|
|
NM_001232.4(CASQ2):c.319+11T>C
|
|
|
NM_001232.4(CASQ2):c.319+16G>C
|
|
|
NM_001232.4(CASQ2):c.319+1G>C
|
rs1459829853
|
|
NM_001232.4(CASQ2):c.319+20T>A
|
rs751551798
|
|
NM_001232.4(CASQ2):c.319+2T>G
|
|
|
NM_001232.4(CASQ2):c.31A>T (p.Ile11Phe)
|
rs2101130741
|
|
NM_001232.4(CASQ2):c.31del (p.Ile11fs)
|
|
|
NM_001232.4(CASQ2):c.320-10T>C
|
rs553194567
|
|
NM_001232.4(CASQ2):c.320-11G>T
|
|
|
NM_001232.4(CASQ2):c.320-15C>G
|
|
|
NM_001232.4(CASQ2):c.320-20G>A
|
|
|
NM_001232.4(CASQ2):c.320-3C>T
|
|
|
NM_001232.4(CASQ2):c.320-7C>T
|
|
|
NM_001232.4(CASQ2):c.324TGA[1] (p.Asp109del)
|
rs1358515759
|
|
NM_001232.4(CASQ2):c.326A>T (p.Asp109Val)
|
rs946911897
|
|
NM_001232.4(CASQ2):c.337A>C (p.Ser113Arg)
|
|
|
NM_001232.4(CASQ2):c.339_354del (p.Ser113fs)
|
rs786205106
|
|
NM_001232.4(CASQ2):c.33T>C (p.Ile11=)
|
|
|
NM_001232.4(CASQ2):c.340C>T (p.Leu114=)
|
|
|
NM_001232.4(CASQ2):c.342G>A (p.Leu114=)
|
rs1399153364
|
|
NM_001232.4(CASQ2):c.348T>C (p.Ile116=)
|
|
|
NM_001232.4(CASQ2):c.34T>A (p.Tyr12Asn)
|
rs752330104
|
|
NM_001232.4(CASQ2):c.354G>A (p.Lys118=)
|
rs1648148662
|
|
NM_001232.4(CASQ2):c.356G>A (p.Gly119Asp)
|
|
|
NM_001232.4(CASQ2):c.357T>C (p.Gly119=)
|
|
|
NM_001232.4(CASQ2):c.366A>G (p.Thr122=)
|
|
|
NM_001232.4(CASQ2):c.381C>A (p.Gly127=)
|
|
|
NM_001232.4(CASQ2):c.381C>T (p.Gly127=)
|
rs775663612
|
|
NM_001232.4(CASQ2):c.389C>T (p.Ala130Val)
|
|
|
NM_001232.4(CASQ2):c.3G>A (p.Met1Ile)
|
|
|
NM_001232.4(CASQ2):c.406G>A (p.Glu136Lys)
|
|
|
NM_001232.4(CASQ2):c.414_415del (p.Leu139fs)
|
|
|
NM_001232.4(CASQ2):c.420+14C>T
|
|
|
NM_001232.4(CASQ2):c.420+16C>T
|
|
|
NM_001232.4(CASQ2):c.420+16_420+17del
|
|
|
NM_001232.4(CASQ2):c.420+17A>G
|
|
|
NM_001232.4(CASQ2):c.420+18G>C
|
|
|
NM_001232.4(CASQ2):c.420+1G>A
|
|
|
NM_001232.4(CASQ2):c.420+20G>A
|
|
|
NM_001232.4(CASQ2):c.420+8_420+9insATAAATGC
|
|
|
NM_001232.4(CASQ2):c.421-15C>G
|
rs199939582
|
|
NM_001232.4(CASQ2):c.421-15C>T
|
rs199939582
|
|
NM_001232.4(CASQ2):c.421-2A>T
|
|
|
NM_001232.4(CASQ2):c.421C>T (p.Leu141=)
|
rs1570831673
|
|
NM_001232.4(CASQ2):c.422T>G (p.Leu141Arg)
|
rs1648036832
|
|
NM_001232.4(CASQ2):c.423A>G (p.Leu141=)
|
rs770571012
|
|
NM_001232.4(CASQ2):c.426T>C (p.Ile142=)
|
|
|
NM_001232.4(CASQ2):c.432C>T (p.Asp144=)
|
|
|
NM_001232.4(CASQ2):c.435A>G (p.Pro145=)
|
rs1570831633
|
|
NM_001232.4(CASQ2):c.438G>A (p.Val146=)
|
|
|
NM_001232.4(CASQ2):c.444C>T (p.Ile148=)
|
|
|
NM_001232.4(CASQ2):c.446T>G (p.Ile149Ser)
|
rs1060502165
|
|
NM_001232.4(CASQ2):c.45del (p.Ser16fs)
|
|
|
NM_001232.4(CASQ2):c.466C>T (p.Gln156Ter)
|
rs1648034747
|
|
NM_001232.4(CASQ2):c.467_478del (p.Gln156_Glu159del)
|
rs1648034165
|
|
NM_001232.4(CASQ2):c.475G>T (p.Glu159Ter)
|
rs375598471
|
|
NM_001232.4(CASQ2):c.481A>C (p.Ile161Leu)
|
rs146333579
|
|
NM_001232.4(CASQ2):c.487G>A (p.Asp163Asn)
|
|
|
NM_001232.4(CASQ2):c.48T>C (p.Ser16=)
|
rs2101130724
|
|
NM_001232.4(CASQ2):c.498A>T (p.Lys166Asn)
|
rs2101091967
|
|
NM_001232.4(CASQ2):c.519T>C (p.Ser173=)
|
|
|
NM_001232.4(CASQ2):c.522G>A (p.Glu174=)
|
rs2101091922
|
|
NM_001232.4(CASQ2):c.525C>T (p.Asp175=)
|
|
|
NM_001232.4(CASQ2):c.532+13C>T
|
rs1442512343
|
|
NM_001232.4(CASQ2):c.532+14C>A
|
|
|
NM_001232.4(CASQ2):c.532+17C>T
|
|
|
NM_001232.4(CASQ2):c.532+7T>A
|
|
|
NM_001232.4(CASQ2):c.532+7T>G
|
|
|
NM_001232.4(CASQ2):c.532+8G>T
|
|
|
NM_001232.4(CASQ2):c.532+9T>C
|
|
|
NM_001232.4(CASQ2):c.533-13T>C
|
|
|
NM_001232.4(CASQ2):c.533-15del
|
|
|
NM_001232.4(CASQ2):c.533-19T>C
|
|
|
NM_001232.4(CASQ2):c.533-5C>T
|
|
|
NM_001232.4(CASQ2):c.537C>A (p.Tyr179Ter)
|
|
|
NM_001232.4(CASQ2):c.538A>C (p.Lys180Gln)
|
|
|
NM_001232.4(CASQ2):c.541G>C (p.Ala181Pro)
|
rs745879915
|
|
NM_001232.4(CASQ2):c.543T>G (p.Ala181=)
|
rs912740566
|
|
NM_001232.4(CASQ2):c.546del (p.Phe182fs)
|
rs763955301
|
|
NM_001232.4(CASQ2):c.564C>T (p.His188=)
|
|
|
NM_001232.4(CASQ2):c.579C>G (p.Ile193Met)
|
|
|
NM_001232.4(CASQ2):c.581A>C (p.Lys194Thr)
|
rs755558916
|
|
NM_001232.4(CASQ2):c.582del (p.Lys194fs)
|
|
|
NM_001232.4(CASQ2):c.591del (p.Thr198fs)
|
|
|
NM_001232.4(CASQ2):c.603A>G (p.Lys201=)
|
rs1557794917
|
|
NM_001232.4(CASQ2):c.606+16A>G
|
|
|
NM_001232.4(CASQ2):c.606+18C>T
|
|
|
NM_001232.4(CASQ2):c.606+1G>C
|
rs786205791
|
|
NM_001232.4(CASQ2):c.606+7A>T
|
rs1060504495
|
|
NM_001232.4(CASQ2):c.606G>A (p.Gly202=)
|
rs1647836874
|
|
NM_001232.4(CASQ2):c.607-11_607-2del
|
|
|
NM_001232.4(CASQ2):c.607-16T>A
|
|
|
NM_001232.4(CASQ2):c.607-17A>C
|
|
|
NM_001232.4(CASQ2):c.607-18T>G
|
|
|
NM_001232.4(CASQ2):c.607-5T>C
|
|
|
NM_001232.4(CASQ2):c.607-6T>C
|
|
|
NM_001232.4(CASQ2):c.607-7G>T
|
|
|
NM_001232.4(CASQ2):c.607-8G>T
|
|
|
NM_001232.4(CASQ2):c.607-9T>C
|
|
|
NM_001232.4(CASQ2):c.625T>C (p.Leu209=)
|
rs2101079232
|
|
NM_001232.4(CASQ2):c.630G>A (p.Lys210=)
|
|
|
NM_001232.4(CASQ2):c.636T>C (p.Asn212=)
|
|
|
NM_001232.4(CASQ2):c.646T>G (p.Phe216Val)
|
|
|
NM_001232.4(CASQ2):c.64G>A (p.Gly22Arg)
|
|
|
NM_001232.4(CASQ2):c.650A>T (p.Tyr217Phe)
|
rs373227317
|
|
NM_001232.4(CASQ2):c.657A>G (p.Pro219=)
|
|
|
NM_001232.4(CASQ2):c.669G>A (p.Glu223=)
|
|
|
NM_001232.4(CASQ2):c.66G>A (p.Gly22=)
|
|
|
NM_001232.4(CASQ2):c.675T>A (p.Ile225=)
|
|
|
NM_001232.4(CASQ2):c.683C>G (p.Pro228Arg)
|
rs2101079136
|
|
NM_001232.4(CASQ2):c.684C>T (p.Pro228=)
|
|
|
NM_001232.4(CASQ2):c.687C>G (p.Asn229Lys)
|
rs2101079130
|
|
NM_001232.4(CASQ2):c.691C>T (p.Pro231Ser)
|
rs749796276
|
|
NM_001232.4(CASQ2):c.693T>C (p.Pro231=)
|
|
|
NM_001232.4(CASQ2):c.715G>T (p.Glu239Ter)
|
rs1647617368
|
|
NM_001232.4(CASQ2):c.730_731inv (p.His244Cys)
|
|
|
NM_001232.4(CASQ2):c.737+12G>A
|
|
|
NM_001232.4(CASQ2):c.737+13G>A
|
|
|
NM_001232.4(CASQ2):c.737+13G>T
|
|
|
NM_001232.4(CASQ2):c.737+14C>T
|
|
|
NM_001232.4(CASQ2):c.737+15A>G
|
|
|
NM_001232.4(CASQ2):c.737+16T>C
|
|
|
NM_001232.4(CASQ2):c.737+17G>A
|
rs1196679914
|
|
NM_001232.4(CASQ2):c.737+17G>T
|
|
|
NM_001232.4(CASQ2):c.737+19G>A
|
|
|
NM_001232.4(CASQ2):c.737+1G>A
|
|
|
NM_001232.4(CASQ2):c.737+7G>A
|
|
|
NM_001232.4(CASQ2):c.737+8A>T
|
|
|
NM_001232.4(CASQ2):c.737+9G>T
|
|
|
NM_001232.4(CASQ2):c.738-11_738-5del
|
rs56889721
|
|
NM_001232.4(CASQ2):c.738-15_738-5del
|
|
|
NM_001232.4(CASQ2):c.738-16T>G
|
|
|
NM_001232.4(CASQ2):c.738-16_738-5del
|
rs56889721
|
|
NM_001232.4(CASQ2):c.738-17_738-5del
|
rs56889721
|
|
NM_001232.4(CASQ2):c.738-19_738-5del
|
|
|
NM_001232.4(CASQ2):c.738-20T>C
|
|
|
NM_001232.4(CASQ2):c.738-4C>A
|
|
|
NM_001232.4(CASQ2):c.738-6_738-4dup
|
|
|
NM_001232.4(CASQ2):c.738-6_738-5del
|
rs56889721
|
|
NM_001232.4(CASQ2):c.738-7T>C
|
|
|
NM_001232.4(CASQ2):c.738-8T>C
|
|
|
NM_001232.4(CASQ2):c.738-8_738-5del
|
rs56889721
|
|
NM_001232.4(CASQ2):c.739C>T (p.Pro247Ser)
|
|
|
NM_001232.4(CASQ2):c.740C>G (p.Pro247Arg)
|
rs768261470
|
|
NM_001232.4(CASQ2):c.741C>T (p.Pro247=)
|
|
|
NM_001232.4(CASQ2):c.749G>T (p.Arg250Leu)
|
rs187306418
|
|
NM_001232.4(CASQ2):c.753C>G (p.Arg251=)
|
|
|
NM_001232.4(CASQ2):c.753C>T (p.Arg251=)
|
|
|
NM_001232.4(CASQ2):c.754del (p.Leu252fs)
|
|
|
NM_001232.4(CASQ2):c.758G>C (p.Arg253Pro)
|
rs199571249
|
|
NM_001232.4(CASQ2):c.758G>T (p.Arg253Leu)
|
rs199571249
|
|
NM_001232.4(CASQ2):c.762A>C (p.Pro254=)
|
|
|
NM_001232.4(CASQ2):c.781del (p.Trp261fs)
|
|
|
NM_001232.4(CASQ2):c.783+13C>G
|
|
|
NM_001232.4(CASQ2):c.783+14A>G
|
|
|
NM_001232.4(CASQ2):c.783+17del
|
|
|
NM_001232.4(CASQ2):c.783+19C>G
|
|
|
NM_001232.4(CASQ2):c.783+3A>G
|
rs876657751
|
|
NM_001232.4(CASQ2):c.784-11T>C
|
|
|
NM_001232.4(CASQ2):c.784-14_784-12dup
|
|
|
NM_001232.4(CASQ2):c.784-15A>G
|
|
|
NM_001232.4(CASQ2):c.784-17T>A
|
rs2997741
|
|
NM_001232.4(CASQ2):c.784-17T>G
|
rs2997741
|
|
NM_001232.4(CASQ2):c.784-18del
|
|
|
NM_001232.4(CASQ2):c.784-19T>G
|
|
|
NM_001232.4(CASQ2):c.784-1G>A
|
|
|
NM_001232.4(CASQ2):c.784-5T>C
|
rs2101068877
|
|
NM_001232.4(CASQ2):c.784-6A>G
|
|
|
NM_001232.4(CASQ2):c.784-7C>T
|
rs2101068879
|
|
NM_001232.4(CASQ2):c.784-9C>G
|
rs2101068882
|
|
NM_001232.4(CASQ2):c.806A>T (p.His269Leu)
|
|
|
NM_001232.4(CASQ2):c.808A>T (p.Ile270Phe)
|
|
|
NM_001232.4(CASQ2):c.809T>C (p.Ile270Thr)
|
rs762381137
|
|
NM_001232.4(CASQ2):c.825G>A (p.Glu275=)
|
|
|
NM_001232.4(CASQ2):c.828G>A (p.Lys276=)
|
|
|
NM_001232.4(CASQ2):c.835C>A (p.Pro279Thr)
|
rs769435706
|
|
NM_001232.4(CASQ2):c.837A>G (p.Pro279=)
|
rs1647217312
|
|
NM_001232.4(CASQ2):c.837A>T (p.Pro279=)
|
rs1647217312
|
|
NM_001232.4(CASQ2):c.838+10C>A
|
|
|
NM_001232.4(CASQ2):c.838+10C>T
|
|
|
NM_001232.4(CASQ2):c.838+16C>A
|
|
|
NM_001232.4(CASQ2):c.838+18T>A
|
|
|
NM_001232.4(CASQ2):c.838+9C>A
|
|
|
NM_001232.4(CASQ2):c.839-10C>A
|
rs1285000814
|
|
NM_001232.4(CASQ2):c.839-18T>A
|
|
|
NM_001232.4(CASQ2):c.839-19C>G
|
|
|
NM_001232.4(CASQ2):c.839-8T>C
|
|
|
NM_001232.4(CASQ2):c.843C>G (p.Gly281=)
|
|
|
NM_001232.4(CASQ2):c.843_847del (p.Tyr282fs)
|
|
|
NM_001232.4(CASQ2):c.846C>A (p.Tyr282Ter)
|
|
|
NM_001232.4(CASQ2):c.856G>T (p.Glu286Ter)
|
rs1471576368
|
|
NM_001232.4(CASQ2):c.858G>A (p.Glu286=)
|
|
|
NM_001232.4(CASQ2):c.860T>G (p.Ile287Ser)
|
rs368165922
|
|
NM_001232.4(CASQ2):c.861C>T (p.Ile287=)
|
rs143718767
|
|
NM_001232.4(CASQ2):c.865A>G (p.Lys289Glu)
|
|
|
NM_001232.4(CASQ2):c.877C>A (p.Arg293=)
|
|
|
NM_001232.4(CASQ2):c.878G>C (p.Arg293Pro)
|
rs377691566
|
|
NM_001232.4(CASQ2):c.888T>C (p.Thr296=)
|
rs769250369
|
|
NM_001232.4(CASQ2):c.891C>T (p.Asp297=)
|
|
|
NM_001232.4(CASQ2):c.894C>A (p.Asn298Lys)
|
rs923161859
|
|
NM_001232.4(CASQ2):c.894C>T (p.Asn298=)
|
|
|
NM_001232.4(CASQ2):c.896C>G (p.Pro299Arg)
|
rs974622106
|
|
NM_001232.4(CASQ2):c.898_900dup (p.Asp300dup)
|
rs1557785041
|
|
NM_001232.4(CASQ2):c.900T>C (p.Asp300=)
|
|
|
NM_001232.4(CASQ2):c.901C>T (p.Leu301=)
|
|
|
NM_001232.4(CASQ2):c.905G>C (p.Ser302Thr)
|
rs979113189
|
|
NM_001232.4(CASQ2):c.906C>T (p.Ser302=)
|
|
|
NM_001232.4(CASQ2):c.909C>A (p.Ile303=)
|
|
|
NM_001232.4(CASQ2):c.909C>T (p.Ile303=)
|
|
|
NM_001232.4(CASQ2):c.918C>T (p.Ile306=)
|
|
|
NM_001232.4(CASQ2):c.921C>T (p.Asp307=)
|
rs773111521
|
|
NM_001232.4(CASQ2):c.923C>A (p.Pro308Gln)
|
rs139228801
|
|
NM_001232.4(CASQ2):c.925del (p.Asp309fs)
|
|
|
NM_001232.4(CASQ2):c.933T>A (p.Phe311Leu)
|
rs769960615
|
|
NM_001232.4(CASQ2):c.937C>G (p.Leu313Val)
|
rs1654321088
|
|
NM_001232.4(CASQ2):c.939+12C>T
|
|
|
NM_001232.4(CASQ2):c.939+13A>G
|
|
|
NM_001232.4(CASQ2):c.939+19C>A
|
rs370092811
|
|
NM_001232.4(CASQ2):c.939+19C>T
|
|
|
NM_001232.4(CASQ2):c.939+1G>A
|
|
|
NM_001232.4(CASQ2):c.939+20G>A
|
rs1431164488
|
|
NM_001232.4(CASQ2):c.939+20G>C
|
|
|
NM_001232.4(CASQ2):c.939+3G>A
|
|
|
NM_001232.4(CASQ2):c.939+5G>C
|
rs746128346
|
|
NM_001232.4(CASQ2):c.939+8G>T
|
|
|
NM_001232.4(CASQ2):c.939+9C>T
|
rs2101055914
|
|
NM_001232.4(CASQ2):c.940-10G>A
|
|
|
NM_001232.4(CASQ2):c.940-11del
|
|
|
NM_001232.4(CASQ2):c.940-12T>C
|
|
|
NM_001232.4(CASQ2):c.940-12T>G
|
|
|
NM_001232.4(CASQ2):c.940-18A>C
|
|
|
NM_001232.4(CASQ2):c.940-19T>C
|
|
|
NM_001232.4(CASQ2):c.940-1G>T
|
rs876657635
|
|
NM_001232.4(CASQ2):c.940-7G>T
|
|
|
NM_001232.4(CASQ2):c.942C>G (p.Leu314=)
|
|
|
NM_001232.4(CASQ2):c.942C>T (p.Leu314=)
|
|
|
NM_001232.4(CASQ2):c.959A>C (p.Lys320Thr)
|
rs1654255083
|
|
NM_001232.4(CASQ2):c.960G>A (p.Lys320=)
|
|
|
NM_001232.4(CASQ2):c.963T>C (p.Thr321=)
|
|
|
NM_001232.4(CASQ2):c.966C>T (p.Phe322=)
|
|
|
NM_001232.4(CASQ2):c.972T>C (p.Ile324=)
|
|
|
NM_001232.4(CASQ2):c.974_983del (p.Asp325fs)
|
|
|
NM_001232.4(CASQ2):c.97C>A (p.Arg33=)
|
|
|
NM_001232.4(CASQ2):c.97C>T (p.Arg33Ter)
|
rs397507556
|
|
NM_001232.4(CASQ2):c.981C>A (p.Phe327Leu)
|
rs2101053786
|
|
NM_001232.4(CASQ2):c.987A>G (p.Pro329=)
|
|
|
NM_001232.4(CASQ2):c.987A>T (p.Pro329=)
|
|
|
NM_001232.4(CASQ2):c.988C>G (p.Gln330Glu)
|
|
|
NM_001232.4(CASQ2):c.988C>T (p.Gln330Ter)
|
rs767023791
|
|
NM_001232.4(CASQ2):c.98G>T (p.Arg33Leu)
|
rs749547712
|
|
NM_001232.4(CASQ2):c.996G>A (p.Gly332=)
|
|
|
NM_001232.4(CASQ2):c.999G>A (p.Val333=)
|
|
|
NM_006073.4(TRDN):c.1002T>C (p.Asp334=)
|
rs2114593337
|
|
NM_006073.4(TRDN):c.1006A>G (p.Lys336Glu)
|
|
|
NM_006073.4(TRDN):c.1034T>C (p.Ile345Thr)
|
rs1459890032
|
|
NM_006073.4(TRDN):c.1042G>C (p.Glu348Gln)
|
|
|
NM_006073.4(TRDN):c.1051+10_1051+11insTGTT
|
|
|
NM_006073.4(TRDN):c.1051+13_1051+16del
|
rs779871731
|
|
NM_006073.4(TRDN):c.1051+14T>G
|
rs2114593071
|
|
NM_006073.4(TRDN):c.1051+18T>C
|
|
|
NM_006073.4(TRDN):c.1051+1G>A
|
rs535908547
|
|
NM_006073.4(TRDN):c.1051+1G>T
|
rs535908547
|
|
NM_006073.4(TRDN):c.1051+20T>C
|
rs1436980557
|
|
NM_006073.4(TRDN):c.1051+3A>T
|
rs2114593121
|
|
NM_006073.4(TRDN):c.1051+6G>T
|
|
|
NM_006073.4(TRDN):c.1051+7C>T
|
|
|
NM_006073.4(TRDN):c.1051+8A>T
|
|
|
NM_006073.4(TRDN):c.1051+9C>T
|
|
|
NM_006073.4(TRDN):c.1052-10dup
|
|
|
NM_006073.4(TRDN):c.1052-15T>C
|
|
|
NM_006073.4(TRDN):c.1052-16T>A
|
rs2114461669
|
|
NM_006073.4(TRDN):c.1052-18T>A
|
|
|
NM_006073.4(TRDN):c.1052-18T>C
|
|
|
NM_006073.4(TRDN):c.1052-19_1052-18del
|
rs2114461686
|
|
NM_006073.4(TRDN):c.1052-9C>A
|
rs765883002
|
|
NM_006073.4(TRDN):c.1052-9C>T
|
rs765883002
|
|
NM_006073.4(TRDN):c.1055C>A (p.Pro352Gln)
|
rs754708708
|
|
NM_006073.4(TRDN):c.1055C>T (p.Pro352Leu)
|
rs754708708
|
|
NM_006073.4(TRDN):c.1056G>A (p.Pro352=)
|
|
|
NM_006073.4(TRDN):c.1056G>T (p.Pro352=)
|
rs558713666
|
|
NM_006073.4(TRDN):c.1058G>A (p.Gly353Glu)
|
rs1230466120
|
|
NM_006073.4(TRDN):c.1087G>A (p.Val363Ile)
|
|
|
NM_006073.4(TRDN):c.1098_1099inv (p.Ala367Ser)
|
|
|
NM_006073.4(TRDN):c.109A>T (p.Thr37Ser)
|
rs1554258810
|
|
NM_006073.4(TRDN):c.1105+11A>G
|
|
|
NM_006073.4(TRDN):c.1105+13del
|
|
|
NM_006073.4(TRDN):c.1105+1del
|
rs1772598763
|
|
NM_006073.4(TRDN):c.1105G>T (p.Ala369Ser)
|
rs369198088
|
|
NM_006073.4(TRDN):c.1106-19G>A
|
rs754623877
|
|
NM_006073.4(TRDN):c.1106-19G>T
|
rs754623877
|
|
NM_006073.4(TRDN):c.1106-20C>T
|
|
|
NM_006073.4(TRDN):c.1106-5T>C
|
|
|
NM_006073.4(TRDN):c.1131G>A (p.Lys377=)
|
rs1370845470
|
|
NM_006073.4(TRDN):c.1132G>A (p.Glu378Lys)
|
rs1330602239
|
|
NM_006073.4(TRDN):c.1133A>G (p.Glu378Gly)
|
rs2114443570
|
|
NM_006073.4(TRDN):c.1135+17dup
|
|
|
NM_006073.4(TRDN):c.1136-2A>G
|
|
|
NM_006073.4(TRDN):c.1136-2_1136-1delinsTA
|
|
|
NM_006073.4(TRDN):c.1144A>G (p.Lys382Glu)
|
rs1781747004
|
|
NM_006073.4(TRDN):c.1150A>G (p.Lys384Glu)
|
rs1159691201
|
|
NM_006073.4(TRDN):c.1165+9C>A
|
|
|
NM_006073.4(TRDN):c.1166-1G>A
|
rs1298986609
|
|
NM_006073.4(TRDN):c.1175C>T (p.Pro392Leu)
|
rs1364039811
|
|
NM_006073.4(TRDN):c.1186+12C>T
|
|
|
NM_006073.4(TRDN):c.1186+13A>G
|
|
|
NM_006073.4(TRDN):c.1187-13T>C
|
|
|
NM_006073.4(TRDN):c.1187-15A>G
|
|
|
NM_006073.4(TRDN):c.1187-19C>G
|
|
|
NM_006073.4(TRDN):c.1187-19C>T
|
|
|
NM_006073.4(TRDN):c.1187-2A>G
|
rs578024729
|
|
NM_006073.4(TRDN):c.1187-31TAA[3]
|
|
|
NM_006073.4(TRDN):c.1188A>C (p.Lys396Asn)
|
rs6901953
|
|
NM_006073.4(TRDN):c.119T>C (p.Ile40Thr)
|
|
|
NM_006073.4(TRDN):c.1208A>C (p.His403Pro)
|
|
|
NM_006073.4(TRDN):c.1209T>C (p.His403=)
|
|
|
NM_006073.4(TRDN):c.1218A>T (p.Pro406=)
|
|
|
NM_006073.4(TRDN):c.1219+7_1219+8del
|
rs2114402886
|
|
NM_006073.4(TRDN):c.1220-12T>C
|
|
|
NM_006073.4(TRDN):c.1220-17T>C
|
|
|
NM_006073.4(TRDN):c.1220-19del
|
|
|
NM_006073.4(TRDN):c.1220-19dup
|
rs750105897
|
|
NM_006073.4(TRDN):c.1220-20_1220-19del
|
|
|
NM_006073.4(TRDN):c.1223A>C (p.Lys408Thr)
|
rs2114402336
|
|
NM_006073.4(TRDN):c.1229C>A (p.Pro410Gln)
|
|
|
NM_006073.4(TRDN):c.1233G>A (p.Lys411=)
|
|
|
NM_006073.4(TRDN):c.123G>A (p.Val41=)
|
rs546801443
|
|
NM_006073.4(TRDN):c.1246+10A>G
|
rs377411184
|
|
NM_006073.4(TRDN):c.1246+11C>A
|
|
|
NM_006073.4(TRDN):c.1246+12C>G
|
|
|
NM_006073.4(TRDN):c.1246+15T>C
|
|
|
NM_006073.4(TRDN):c.1247-19T>G
|
|
|
NM_006073.4(TRDN):c.1247-20T>C
|
|
|
NM_006073.4(TRDN):c.1247-8A>G
|
|
|
NM_006073.4(TRDN):c.1247-9C>T
|
|
|
NM_006073.4(TRDN):c.1248T>C (p.Val416=)
|
|
|
NM_006073.4(TRDN):c.1257C>G (p.Asp419Glu)
|
rs17737379
|
|
NM_006073.4(TRDN):c.1259A>G (p.Lys420Arg)
|
|
|
NM_006073.4(TRDN):c.126G>T (p.Thr42=)
|
rs774324909
|
|
NM_006073.4(TRDN):c.1273+16T>G
|
|
|
NM_006073.4(TRDN):c.1273+5G>A
|
|
|
NM_006073.4(TRDN):c.1273+7T>G
|
rs1324451489
|
|
NM_006073.4(TRDN):c.1273+8G>T
|
rs1781473593
|
|
NM_006073.4(TRDN):c.1274-11T>C
|
|
|
NM_006073.4(TRDN):c.1274-8A>G
|
|
|
NM_006073.4(TRDN):c.1276A>G (p.Thr426Ala)
|
rs1040336692
|
|
NM_006073.4(TRDN):c.1278T>C (p.Thr426=)
|
|
|
NM_006073.4(TRDN):c.1292_1293del (p.Glu431fs)
|
rs1582923790
|
|
NM_006073.4(TRDN):c.1300_1308del (p.Gly434_Val436del)
|
rs765757457
|
|
NM_006073.4(TRDN):c.1301G>C (p.Gly434Ala)
|
rs2114357967
|
|
NM_006073.4(TRDN):c.1304C>A (p.Ala435Glu)
|
rs370712881
|
|
NM_006073.4(TRDN):c.1304C>T (p.Ala435Val)
|
rs370712881
|
|
NM_006073.4(TRDN):c.1313T>A (p.Ile438Asn)
|
rs2873479
|
|
NM_006073.4(TRDN):c.1313T>G (p.Ile438Ser)
|
rs2873479
|
|
NM_006073.4(TRDN):c.1313_1314delinsGC (p.Ile438Ser)
|
rs1562280050
|
|
NM_006073.4(TRDN):c.1321+10G>A
|
|
|
NM_006073.4(TRDN):c.1321+10G>T
|
|
|
NM_006073.4(TRDN):c.1321+11C>A
|
|
|
NM_006073.4(TRDN):c.1321+11C>G
|
rs920771213
|
|
NM_006073.4(TRDN):c.1321+17G>A
|
|
|
NM_006073.4(TRDN):c.1321+17G>T
|
|
|
NM_006073.4(TRDN):c.1321+19T>C
|
|
|
NM_006073.4(TRDN):c.1321+1G>T
|
|
|
NM_006073.4(TRDN):c.1321+1del
|
rs754982716
|
|
NM_006073.4(TRDN):c.1321+9A>G
|
|
|
NM_006073.4(TRDN):c.1322-21_1322-20del
|
rs753927173
|
|
NM_006073.4(TRDN):c.1322-9_1322-6dup
|
|
|
NM_006073.4(TRDN):c.1328C>T (p.Pro443Leu)
|
rs2114299923
|
|
NM_006073.4(TRDN):c.1329T>C (p.Pro443=)
|
rs2114299916
|
|
NM_006073.4(TRDN):c.1340A>G (p.Glu447Gly)
|
rs1488176228
|
|
NM_006073.4(TRDN):c.1362G>A (p.Val454=)
|
|
|
NM_006073.4(TRDN):c.1365G>A (p.Glu455=)
|
rs1452206168
|
|
NM_006073.4(TRDN):c.1369+11A>G
|
|
|
NM_006073.4(TRDN):c.1369+15A>G
|
|
|
NM_006073.4(TRDN):c.1369+16G>A
|
|
|
NM_006073.4(TRDN):c.1369+20G>A
|
|
|
NM_006073.4(TRDN):c.1369+2del
|
|
|
NM_006073.4(TRDN):c.1369+3dup
|
rs537388823
|
|
NM_006073.4(TRDN):c.1370-11_1370-10delinsAC
|
rs1060502113
|
|
NM_006073.4(TRDN):c.1370-15T>A
|
|
|
NM_006073.4(TRDN):c.1370-19C>T
|
|
|
NM_006073.4(TRDN):c.1370-20_1370-8del
|
|
|
NM_006073.4(TRDN):c.1370-2A>G
|
|
|
NM_006073.4(TRDN):c.1370A>G (p.Glu457Gly)
|
rs1275202498
|
|
NM_006073.4(TRDN):c.1373T>C (p.Ile458Thr)
|
rs1216864060
|
|
NM_006073.4(TRDN):c.1375A>T (p.Arg459Ter)
|
rs1562267979
|
|
NM_006073.4(TRDN):c.138C>T (p.Ser46=)
|
|
|
NM_006073.4(TRDN):c.1395G>A (p.Lys465=)
|
|
|
NM_006073.4(TRDN):c.1405A>G (p.Ile469Val)
|
|
|
NM_006073.4(TRDN):c.1410G>A (p.Leu470=)
|
rs768291815
|
|
NM_006073.4(TRDN):c.1410G>T (p.Leu470=)
|
rs768291815
|
|
NM_006073.4(TRDN):c.1416T>C (p.Asp472=)
|
rs1464407707
|
|
NM_006073.4(TRDN):c.1416T>G (p.Asp472Glu)
|
rs1464407707
|
|
NM_006073.4(TRDN):c.1420+17A>G
|
|
|
NM_006073.4(TRDN):c.1420+17A>T
|
|
|
NM_006073.4(TRDN):c.1420+18A>C
|
|
|
NM_006073.4(TRDN):c.1420+18A>G
|
|
|
NM_006073.4(TRDN):c.1420+8_1420+9del
|
rs1254777827
|
|
NM_006073.4(TRDN):c.1421-13T>A
|
|
|
NM_006073.4(TRDN):c.1421-13T>C
|
|
|
NM_006073.4(TRDN):c.1421-14A>G
|
|
|
NM_006073.4(TRDN):c.1421-16C>T
|
|
|
NM_006073.4(TRDN):c.1421-19G>C
|
|
|
NM_006073.4(TRDN):c.1426A>G (p.Ile476Val)
|
|
|
NM_006073.4(TRDN):c.1427T>C (p.Ile476Thr)
|
rs1582882357
|
|
NM_006073.4(TRDN):c.1431A>G (p.Lys477=)
|
|
|
NM_006073.4(TRDN):c.1443G>C (p.Glu481Asp)
|
rs2114727152
|
|
NM_006073.4(TRDN):c.1454C>T (p.Ala485Val)
|
rs1001289198
|
|
NM_006073.4(TRDN):c.1458C>A (p.Ser486=)
|
|
|
NM_006073.4(TRDN):c.1458C>G (p.Ser486=)
|
rs1365899783
|
|
NM_006073.4(TRDN):c.145G>C (p.Ala49Pro)
|
rs1583264660
|
|
NM_006073.4(TRDN):c.1471+10T>A
|
rs1408593994
|
|
NM_006073.4(TRDN):c.1471+10T>C
|
|
|
NM_006073.4(TRDN):c.1471+14A>G
|
|
|
NM_006073.4(TRDN):c.1471+15T>C
|
|
|
NM_006073.4(TRDN):c.1471+16G>A
|
|
|
NM_006073.4(TRDN):c.1471+1G>A
|
|
|
NM_006073.4(TRDN):c.1471+20T>C
|
|
|
NM_006073.4(TRDN):c.1471+8_1471+10del
|
|
|
NM_006073.4(TRDN):c.1471G>C (p.Glu491Gln)
|
|
|
NM_006073.4(TRDN):c.1472-4C>T
|
|
|
NM_006073.4(TRDN):c.1472-5C>T
|
rs2114699560
|
|
NM_006073.4(TRDN):c.147C>A (p.Ala49=)
|
rs1554258804
|
|
NM_006073.4(TRDN):c.1488del (p.Asp497fs)
|
|
|
NM_006073.4(TRDN):c.1492G>T (p.Glu498Ter)
|
rs1779027425
|
|
NM_006073.4(TRDN):c.1499T>C (p.Met500Thr)
|
rs1233338907
|
|
NM_006073.4(TRDN):c.1503C>T (p.Ser501=)
|
|
|
NM_006073.4(TRDN):c.1510+14G>A
|
|
|
NM_006073.4(TRDN):c.1510+14G>T
|
|
|
NM_006073.4(TRDN):c.1510+17A>G
|
|
|
NM_006073.4(TRDN):c.1510+1G>C
|
|
|
NM_006073.4(TRDN):c.1510+5G>A
|
rs1779025821
|
|
NM_006073.4(TRDN):c.1511-11C>T
|
|
|
NM_006073.4(TRDN):c.1511-12A>C
|
|
|
NM_006073.4(TRDN):c.1511-13del
|
rs768721605
|
|
NM_006073.4(TRDN):c.1511-13dup
|
|
|
NM_006073.4(TRDN):c.1511-14T>C
|
rs1252673540
|
|
NM_006073.4(TRDN):c.1511-20A>G
|
|
|
NM_006073.4(TRDN):c.1511-20A>T
|
rs773044428
|
|
NM_006073.4(TRDN):c.1511-9T>C
|
|
|
NM_006073.4(TRDN):c.1512C>T (p.Gly504=)
|
|
|
NM_006073.4(TRDN):c.1526C>G (p.Pro509Arg)
|
rs1060502115
|
|
NM_006073.4(TRDN):c.1534C>T (p.Pro512Ser)
|
|
|
NM_006073.4(TRDN):c.1537+16G>A
|
|
|
NM_006073.4(TRDN):c.1537+17C>A
|
|
|
NM_006073.4(TRDN):c.1537+18T>A
|
|
|
NM_006073.4(TRDN):c.1537+18_1537+19insTAAA
|
|
|
NM_006073.4(TRDN):c.1537+19C>T
|
|
|
NM_006073.4(TRDN):c.1537C>T (p.Gln513Ter)
|
rs757355311
|
|
NM_006073.4(TRDN):c.1538-12C>G
|
|
|
NM_006073.4(TRDN):c.1538-17T>C
|
|
|
NM_006073.4(TRDN):c.1538-19T>C
|
rs142237914
|
|
NM_006073.4(TRDN):c.1538-7T>G
|
rs1777452285
|
|
NM_006073.4(TRDN):c.153T>C (p.Leu51=)
|
|
|
NM_006073.4(TRDN):c.1544A>G (p.Gln515Arg)
|
|
|
NM_006073.4(TRDN):c.1545A>C (p.Gln515His)
|
rs1232728917
|
|
NM_006073.4(TRDN):c.1545A>G (p.Gln515=)
|
|
|
NM_006073.4(TRDN):c.1548A>G (p.Gly516=)
|
|
|
NM_006073.4(TRDN):c.1549A>G (p.Lys517Glu)
|
rs2114626106
|
|
NM_006073.4(TRDN):c.1560G>A (p.Glu520=)
|
|
|
NM_006073.4(TRDN):c.1567+10T>A
|
rs2114626071
|
|
NM_006073.4(TRDN):c.1567+16T>G
|
|
|
NM_006073.4(TRDN):c.1567+19_1567+20del
|
|
|
NM_006073.4(TRDN):c.1567+9A>G
|
|
|
NM_006073.4(TRDN):c.1568-14T>C
|
|
|
NM_006073.4(TRDN):c.1568-15T>C
|
|
|
NM_006073.4(TRDN):c.1568-16C>T
|
|
|
NM_006073.4(TRDN):c.1568-17C>A
|
|
|
NM_006073.4(TRDN):c.1568-18G>A
|
|
|
NM_006073.4(TRDN):c.1568-20del
|
|
|
NM_006073.4(TRDN):c.1568-5C>T
|
|
|
NM_006073.4(TRDN):c.156G>C (p.Leu52=)
|
|
|
NM_006073.4(TRDN):c.156G>T (p.Leu52=)
|
|
|
NM_006073.4(TRDN):c.1576A>G (p.Ile526Val)
|
rs375091695
|
|
NM_006073.4(TRDN):c.1577T>G (p.Ile526Ser)
|
rs771612991
|
|
NM_006073.4(TRDN):c.1579A>G (p.Lys527Glu)
|
rs1192853066
|
|
NM_006073.4(TRDN):c.157G>A (p.Val53Ile)
|
|
|
NM_006073.4(TRDN):c.1580A>G (p.Lys527Arg)
|
|
|
NM_006073.4(TRDN):c.1584A>G (p.Lys528=)
|
|
|
NM_006073.4(TRDN):c.1597+10G>A
|
rs150165710
|
|
NM_006073.4(TRDN):c.1597+11C>T
|
|
|
NM_006073.4(TRDN):c.1597+15A>G
|
|
|
NM_006073.4(TRDN):c.1598-12T>C
|
|
|
NM_006073.4(TRDN):c.1598-12T>G
|
|
|
NM_006073.4(TRDN):c.1598-15ATTT[2]
|
|
|
NM_006073.4(TRDN):c.1598-15_1598-13del
|
|
|
NM_006073.4(TRDN):c.1598-16T>A
|
|
|
NM_006073.4(TRDN):c.1598-16T>C
|
|
|
NM_006073.4(TRDN):c.1598-18_1598-14del
|
|
|
NM_006073.4(TRDN):c.1598-20A>G
|
|
|
NM_006073.4(TRDN):c.1598-20_1598-19del
|
rs1463323606
|
|
NM_006073.4(TRDN):c.1598-23_1598-19del
|
rs1282710403
|
|
NM_006073.4(TRDN):c.1598-4_1598-3insTTTAT
|
|
|
NM_006073.4(TRDN):c.1598-6dup
|
rs147062785
|
|
NM_006073.4(TRDN):c.159C>A (p.Val53=)
|
|
|
NM_006073.4(TRDN):c.1600A>G (p.Ile534Val)
|
rs1048725851
|
|
NM_006073.4(TRDN):c.1600_1602delinsT (p.Ile534fs)
|
rs1777268262
|
|
NM_006073.4(TRDN):c.1608A>G (p.Glu536=)
|
rs2114616513
|
|
NM_006073.4(TRDN):c.161T>C (p.Ile54Thr)
|
rs1562396418
|
|
NM_006073.4(TRDN):c.1623C>T (p.His541=)
|
|
|
NM_006073.4(TRDN):c.1624+1G>A
|
|
|
NM_006073.4(TRDN):c.1624+1G>C
|
rs748011906
|
|
NM_006073.4(TRDN):c.1624+20T>C
|
|
|
NM_006073.4(TRDN):c.1624+6T>A
|
|
|
NM_006073.4(TRDN):c.1624+9T>A
|
|
|
NM_006073.4(TRDN):c.1625-11A>C
|
|
|
NM_006073.4(TRDN):c.1625-3C>A
|
|
|
NM_006073.4(TRDN):c.1626A>G (p.Lys542=)
|
|
|
NM_006073.4(TRDN):c.1629A>G (p.Gln543=)
|
rs2114615817
|
|
NM_006073.4(TRDN):c.162T>C (p.Ile54=)
|
|
|
NM_006073.4(TRDN):c.1630G>A (p.Asp544Asn)
|
rs1777254669
|
|
NM_006073.4(TRDN):c.1632C>T (p.Asp544=)
|
|
|
NM_006073.4(TRDN):c.1648A>G (p.Lys550Glu)
|
rs1036032456
|
|
NM_006073.4(TRDN):c.164C>T (p.Ala55Val)
|
rs1333255264
|
|
NM_006073.4(TRDN):c.1650G>A (p.Lys550=)
|
|
|
NM_006073.4(TRDN):c.1661A>C (p.His554Pro)
|
rs1777253805
|
|
NM_006073.4(TRDN):c.1661A>G (p.His554Arg)
|
|
|
NM_006073.4(TRDN):c.1662T>C (p.His554=)
|
|
|
NM_006073.4(TRDN):c.1667A>G (p.Lys556Arg)
|
rs1554219406
|
|
NM_006073.4(TRDN):c.1672+13T>C
|
|
|
NM_006073.4(TRDN):c.1672+20T>C
|
|
|
NM_006073.4(TRDN):c.1672+3A>G
|
|
|
NM_006073.4(TRDN):c.1672+6T>C
|
|
|
NM_006073.4(TRDN):c.1673-10C>T
|
|
|
NM_006073.4(TRDN):c.167T>C (p.Leu56Pro)
|
rs1060502116
|
|
NM_006073.4(TRDN):c.1684C>A (p.Leu562Ile)
|
rs2114612744
|
|
NM_006073.4(TRDN):c.168G>A (p.Leu56=)
|
rs1290905998
|
|
NM_006073.4(TRDN):c.1691A>C (p.Gln564Pro)
|
rs768555461
|
|
NM_006073.4(TRDN):c.1692G>A (p.Gln564=)
|
|
|
NM_006073.4(TRDN):c.1692G>C (p.Gln564His)
|
rs747107207
|
|
NM_006073.4(TRDN):c.1693G>A (p.Val565Ile)
|
rs565178454
|
|
NM_006073.4(TRDN):c.1700C>A (p.Ala567Asp)
|
rs545470302
|
|
NM_006073.4(TRDN):c.1701T>G (p.Ala567=)
|
rs1208419306
|
|
NM_006073.4(TRDN):c.1707A>G (p.Thr569=)
|
|
|
NM_006073.4(TRDN):c.1717dup (p.Thr573fs)
|
|
|
NM_006073.4(TRDN):c.1720+10G>T
|
rs1582805166
|
|
NM_006073.4(TRDN):c.1720+9G>A
|
|
|
NM_006073.4(TRDN):c.1720G>A (p.Ala574Thr)
|
rs866787639
|
|
NM_006073.4(TRDN):c.1721-10T>C
|
rs2114610669
|
|
NM_006073.4(TRDN):c.1721-11A>G
|
rs1356432525
|
|
NM_006073.4(TRDN):c.1721-16C>T
|
|
|
NM_006073.4(TRDN):c.1721-18_1721-16dup
|
|
|
NM_006073.4(TRDN):c.1721-4A>T
|
rs60743141
|
|
NM_006073.4(TRDN):c.1721-6C>T
|
|
|
NM_006073.4(TRDN):c.1732C>T (p.Pro578Ser)
|
|
|
NM_006073.4(TRDN):c.1738+10G>A
|
|
|
NM_006073.4(TRDN):c.1738+12A>G
|
|
|
NM_006073.4(TRDN):c.1738+20A>G
|
|
|
NM_006073.4(TRDN):c.1739-15G>T
|
|
|
NM_006073.4(TRDN):c.1739-16T>G
|
|
|
NM_006073.4(TRDN):c.1739-17T>C
|
|
|
NM_006073.4(TRDN):c.1753C>T (p.Arg585Ter)
|
rs754229275
|
|
NM_006073.4(TRDN):c.1762G>A (p.Glu588Lys)
|
|
|
NM_006073.4(TRDN):c.1768C>T (p.Pro590Ser)
|
rs2114606785
|
|
NM_006073.4(TRDN):c.1770A>C (p.Pro590=)
|
rs2114606782
|
|
NM_006073.4(TRDN):c.177G>A (p.Thr59=)
|
|
|
NM_006073.4(TRDN):c.1783+16T>C
|
|
|
NM_006073.4(TRDN):c.1783+8A>G
|
|
|
NM_006073.4(TRDN):c.1784-10dup
|
rs1776904446
|
|
NM_006073.4(TRDN):c.1784-16del
|
rs1181050406
|
|
NM_006073.4(TRDN):c.1784-17del
|
rs750605412
|
|
NM_006073.4(TRDN):c.1784-17dup
|
|
|
NM_006073.4(TRDN):c.1784-18T>C
|
|
|
NM_006073.4(TRDN):c.1784-4T>C
|
|
|
NM_006073.4(TRDN):c.1784-7T>C
|
|
|
NM_006073.4(TRDN):c.1784-7T>G
|
|
|
NM_006073.4(TRDN):c.1784-8C>G
|
rs759126653
|
|
NM_006073.4(TRDN):c.1784-9C>A
|
|
|
NM_006073.4(TRDN):c.1794del (p.Lys598fs)
|
rs1412913007
|
|
NM_006073.4(TRDN):c.1804+10C>T
|
|
|
NM_006073.4(TRDN):c.1804+17A>G
|
|
|
NM_006073.4(TRDN):c.1804+2T>C
|
rs2114598453
|
|
NM_006073.4(TRDN):c.1804+6T>C
|
|
|
NM_006073.4(TRDN):c.1804+8T>C
|
|
|
NM_006073.4(TRDN):c.1804A>T (p.Lys602Ter)
|
rs2114598456
|
|
NM_006073.4(TRDN):c.1805-18T>C
|
|
|
NM_006073.4(TRDN):c.1805-19_1805-18insC
|
|
|
NM_006073.4(TRDN):c.1805-21dup
|
rs11373802
|
|
NM_006073.4(TRDN):c.1805-22_1805-19del
|
|
|
NM_006073.4(TRDN):c.1805-4A>T
|
|
|
NM_006073.4(TRDN):c.1805-5_1805-4insTT
|
|
|
NM_006073.4(TRDN):c.1805-6_1805-4del
|
rs2114588768
|
|
NM_006073.4(TRDN):c.1805-6_1805-4delinsT
|
rs1776731846
|
|
NM_006073.4(TRDN):c.1805-6dup
|
|
|
NM_006073.4(TRDN):c.1805-7T>C
|
|
|
NM_006073.4(TRDN):c.1806del (p.Gly603fs)
|
rs1381728472
|
|
NM_006073.4(TRDN):c.1831+11dup
|
|
|
NM_006073.4(TRDN):c.1831+17T>A
|
rs953116640
|
|
NM_006073.4(TRDN):c.1831+9T>C
|
|
|
NM_006073.4(TRDN):c.1831+9T>G
|
|
|
NM_006073.4(TRDN):c.1832-11C>A
|
|
|
NM_006073.4(TRDN):c.1832-4C>T
|
|
|
NM_006073.4(TRDN):c.1832-5C>G
|
|
|
NM_006073.4(TRDN):c.1832-5C>T
|
|
|
NM_006073.4(TRDN):c.1845T>C (p.Thr615=)
|
|
|
NM_006073.4(TRDN):c.1857A>G (p.Glu619=)
|
|
|
NM_006073.4(TRDN):c.1860A>G (p.Lys620=)
|
|
|
NM_006073.4(TRDN):c.1861G>T (p.Glu621Ter)
|
|
|
NM_006073.4(TRDN):c.1862A>G (p.Glu621Gly)
|
rs1211286909
|
|
NM_006073.4(TRDN):c.1870+11C>T
|
|
|
NM_006073.4(TRDN):c.1870+19G>C
|
|
|
NM_006073.4(TRDN):c.1870+19G>T
|
|
|
NM_006073.4(TRDN):c.1871-20T>C
|
|
|
NM_006073.4(TRDN):c.1871-2A>G
|
rs1483354092
|
|
NM_006073.4(TRDN):c.1871-6A>C
|
|
|
NM_006073.4(TRDN):c.1871-9T>A
|
rs1489256531
|
|
NM_006073.4(TRDN):c.1874A>C (p.Lys625Thr)
|
rs1776539318
|
|
NM_006073.4(TRDN):c.1874A>G (p.Lys625Arg)
|
rs1776539318
|
|
NM_006073.4(TRDN):c.1875dup (p.Ala626fs)
|
rs780443277
|
|
NM_006073.4(TRDN):c.1881C>G (p.Asp627Glu)
|
rs1776538992
|
|
NM_006073.4(TRDN):c.1881C>T (p.Asp627=)
|
rs1776538992
|
|
NM_006073.4(TRDN):c.1887G>A (p.Lys629=)
|
|
|
NM_006073.4(TRDN):c.1897G>A (p.Glu633Lys)
|
rs1776538236
|
|
NM_006073.4(TRDN):c.1900_1903del (p.Glu634fs)
|
rs750469686
|
|
NM_006073.4(TRDN):c.1906+10del
|
rs1371429325
|
|
NM_006073.4(TRDN):c.1906+14del
|
|
|
NM_006073.4(TRDN):c.1906+17A>G
|
|
|
NM_006073.4(TRDN):c.1906+6T>C
|
rs1562232511
|
|
NM_006073.4(TRDN):c.1906+6T>G
|
rs1562232511
|
|
NM_006073.4(TRDN):c.1906+8T>C
|
|
|
NM_006073.4(TRDN):c.1907-16T>C
|
|
|
NM_006073.4(TRDN):c.1907-29_1907-15del
|
|
|
NM_006073.4(TRDN):c.1907-3C>T
|
|
|
NM_006073.4(TRDN):c.1907-6T>G
|
|
|
NM_006073.4(TRDN):c.1907-7T>C
|
|
|
NM_006073.4(TRDN):c.1913C>G (p.Thr638Arg)
|
rs1168548735
|
|
NM_006073.4(TRDN):c.1916_1918del (p.Arg639del)
|
|
|
NM_006073.4(TRDN):c.1921_1923del (p.Glu641del)
|
|
|
NM_006073.4(TRDN):c.1923_1924del (p.Leu643fs)
|
rs781420323
|
|
NM_006073.4(TRDN):c.1938C>A (p.His646Gln)
|
rs1582782548
|
|
NM_006073.4(TRDN):c.1938C>T (p.His646=)
|
|
|
NM_006073.4(TRDN):c.1951+13T>G
|
rs2114576557
|
|
NM_006073.4(TRDN):c.1951+9G>A
|
|
|
NM_006073.4(TRDN):c.1952-15del
|
rs2114570805
|
|
NM_006073.4(TRDN):c.1952-19A>T
|
|
|
NM_006073.4(TRDN):c.1952-1G>A
|
rs2114570771
|
|
NM_006073.4(TRDN):c.1966A>G (p.Arg656Gly)
|
rs1776405797
|
|
NM_006073.4(TRDN):c.196G>A (p.Val66Ile)
|
rs372169818
|
|
NM_006073.4(TRDN):c.1971A>G (p.Val657=)
|
|
|
NM_006073.4(TRDN):c.1975+10G>T
|
|
|
NM_006073.4(TRDN):c.1975+13T>C
|
|
|
NM_006073.4(TRDN):c.1975+14G>C
|
|
|
NM_006073.4(TRDN):c.1975+4del
|
rs763953757
|
|
NM_006073.4(TRDN):c.1975+7A>G
|
|
|
NM_006073.4(TRDN):c.1975+8C>A
|
rs754046696
|
|
NM_006073.4(TRDN):c.1975+9G>A
|
rs111276785
|
|
NM_006073.4(TRDN):c.1976-11C>T
|
|
|
NM_006073.4(TRDN):c.1986A>T (p.Glu662Asp)
|
|
|
NM_006073.4(TRDN):c.1989T>C (p.Asp663=)
|
|
|
NM_006073.4(TRDN):c.1996G>A (p.Ala666Thr)
|
rs748450167
|
|
NM_006073.4(TRDN):c.1996G>C (p.Ala666Pro)
|
rs748450167
|
|
NM_006073.4(TRDN):c.1997C>A (p.Ala666Asp)
|
rs878854816
|
|
NM_006073.4(TRDN):c.19_22+8del
|
|
|
NM_006073.4(TRDN):c.2011A>C (p.Lys671Gln)
|
rs2114505384
|
|
NM_006073.4(TRDN):c.2014+15T>C
|
rs2114505350
|
|
NM_006073.4(TRDN):c.2014+17T>C
|
rs2114505346
|
|
NM_006073.4(TRDN):c.2014+20A>G
|
rs2114505323
|
|
NM_006073.4(TRDN):c.2014+6T>G
|
rs2114505362
|
|
NM_006073.4(TRDN):c.2014+9G>T
|
|
|
NM_006073.4(TRDN):c.2014G>A (p.Glu672Lys)
|
rs2114505372
|
|
NM_006073.4(TRDN):c.2015-10del
|
|
|
NM_006073.4(TRDN):c.2015-10dup
|
|
|
NM_006073.4(TRDN):c.2015-6C>A
|
rs1244486423
|
|
NM_006073.4(TRDN):c.2015-6C>T
|
|
|
NM_006073.4(TRDN):c.2015-7C>T
|
|
|
NM_006073.4(TRDN):c.2030T>G (p.Val677Gly)
|
rs1775146927
|
|
NM_006073.4(TRDN):c.2037C>T (p.Pro679=)
|
|
|
NM_006073.4(TRDN):c.2043G>A (p.Lys681=)
|
|
|
NM_006073.4(TRDN):c.2050+11A>T
|
|
|
NM_006073.4(TRDN):c.2050+14_2050+18del
|
|
|
NM_006073.4(TRDN):c.2050+18T>C
|
|
|
NM_006073.4(TRDN):c.2050+1G>A
|
rs1295530677
|
|
NM_006073.4(TRDN):c.2050+2T>C
|
rs758127975
|
|
NM_006073.4(TRDN):c.2050+7T>G
|
|
|
NM_006073.4(TRDN):c.2051-12T>C
|
|
|
NM_006073.4(TRDN):c.2051-13C>A
|
rs763319003
|
|
NM_006073.4(TRDN):c.2051-13C>T
|
|
|
NM_006073.4(TRDN):c.2051-19_2051-18inv
|
|
|
NM_006073.4(TRDN):c.2051-5C>T
|
|
|
NM_006073.4(TRDN):c.2072G>C (p.Cys691Ser)
|
rs2114492427
|
|
NM_006073.4(TRDN):c.2090A>G (p.Tyr697Cys)
|
|
|
NM_006073.4(TRDN):c.2092A>G (p.Asn698Asp)
|
rs777779916
|
|
NM_006073.4(TRDN):c.2096del (p.Gly699fs)
|
rs772899515
|
|
NM_006073.4(TRDN):c.2108A>G (p.Gln703Arg)
|
rs1390830578
|
|
NM_006073.4(TRDN):c.2109G>T (p.Gln703His)
|
|
|
NM_006073.4(TRDN):c.211G>A (p.Val71Met)
|
|
|
NM_006073.4(TRDN):c.2121T>A (p.Thr707=)
|
|
|
NM_006073.4(TRDN):c.2123C>T (p.Pro708Leu)
|
|
|
NM_006073.4(TRDN):c.213G>A (p.Val71=)
|
|
|
NM_006073.4(TRDN):c.2149_2150del (p.Gly717fs)
|
|
|
NM_006073.4(TRDN):c.214G>A (p.Asp72Asn)
|
rs919863113
|
|
NM_006073.4(TRDN):c.2160T>C (p.Asn720=)
|
|
|
NM_006073.4(TRDN):c.2165C>T (p.Pro722Leu)
|
rs2114492200
|
|
NM_006073.4(TRDN):c.2167G>A (p.Gly723Arg)
|
rs2114492194
|
|
NM_006073.4(TRDN):c.2169A>G (p.Gly723=)
|
|
|
NM_006073.4(TRDN):c.2180A>G (p.Gln727Arg)
|
|
|
NM_006073.4(TRDN):c.2185C>G (p.Gln729Glu)
|
|
|
NM_006073.4(TRDN):c.2189A>G (p.Ter730=)
|
|
|
NM_006073.4(TRDN):c.22+19G>C
|
|
|
NM_006073.4(TRDN):c.22+1G>T
|
rs1290195833
|
|
NM_006073.4(TRDN):c.226T>C (p.Phe76Leu)
|
rs1782541809
|
|
NM_006073.4(TRDN):c.23-2A>G
|
|
|
NM_006073.4(TRDN):c.231A>G (p.Ser77=)
|
rs2114537218
|
|
NM_006073.4(TRDN):c.232+11T>C
|
|
|
NM_006073.4(TRDN):c.232+20G>C
|
|
|
NM_006073.4(TRDN):c.232+2T>A
|
rs1554258777
|
|
NM_006073.4(TRDN):c.232+2T>C
|
|
|
NM_006073.4(TRDN):c.232+6T>C
|
rs747825904
|
|
NM_006073.4(TRDN):c.233-11A>G
|
|
|
NM_006073.4(TRDN):c.233-12A>G
|
|
|
NM_006073.4(TRDN):c.233-14_233-13del
|
rs66509682
|
|
NM_006073.4(TRDN):c.233-20T>C
|
|
|
NM_006073.4(TRDN):c.233-8A>G
|
|
|
NM_006073.4(TRDN):c.237C>T (p.Ser79=)
|
rs2114437291
|
|
NM_006073.4(TRDN):c.245C>T (p.Ala82Val)
|
|
|
NM_006073.4(TRDN):c.24A>G (p.Gly8=)
|
|
|
NM_006073.4(TRDN):c.252T>G (p.Ile84Met)
|
|
|
NM_006073.4(TRDN):c.255C>T (p.Gly85=)
|
|
|
NM_006073.4(TRDN):c.271C>T (p.Leu91=)
|
|
|
NM_006073.4(TRDN):c.274G>T (p.Val92Leu)
|
rs34808221
|
|
NM_006073.4(TRDN):c.277C>A (p.Arg93Ser)
|
|
|
NM_006073.4(TRDN):c.294A>G (p.Glu98=)
|
|
|
NM_006073.4(TRDN):c.296C>G (p.Thr99Ser)
|
|
|
NM_006073.4(TRDN):c.29C>A (p.Ala10Glu)
|
|
|
NM_006073.4(TRDN):c.2T>C (p.Met1Thr)
|
|
|
NM_006073.4(TRDN):c.306G>T (p.Trp102Cys)
|
|
|
NM_006073.4(TRDN):c.307A>G (p.Ile103Val)
|
rs535845814
|
|
NM_006073.4(TRDN):c.312T>C (p.Tyr104=)
|
|
|
NM_006073.4(TRDN):c.326del (p.Leu109fs)
|
|
|
NM_006073.4(TRDN):c.328T>C (p.Leu110=)
|
|
|
NM_006073.4(TRDN):c.334del (p.Asp112fs)
|
|
|
NM_006073.4(TRDN):c.337ATC[1] (p.Ile114del)
|
rs1781228259
|
|
NM_006073.4(TRDN):c.346T>A (p.Ser116Thr)
|
rs768047321
|
|
NM_006073.4(TRDN):c.346T>C (p.Ser116Pro)
|
rs768047321
|
|
NM_006073.4(TRDN):c.348T>C (p.Ser116=)
|
rs746361154
|
|
NM_006073.4(TRDN):c.355G>A (p.Glu119Lys)
|
|
|
NM_006073.4(TRDN):c.356A>G (p.Glu119Gly)
|
rs2114436566
|
|
NM_006073.4(TRDN):c.362ATG[2] (p.Asp123del)
|
rs746889615
|
|
NM_006073.4(TRDN):c.384T>C (p.Thr128=)
|
rs2114436256
|
|
NM_006073.4(TRDN):c.391+13T>C
|
|
|
NM_006073.4(TRDN):c.391+19T>A
|
|
|
NM_006073.4(TRDN):c.391+1G>A
|
rs2114436209
|
|
NM_006073.4(TRDN):c.391+20A>G
|
|
|
NM_006073.4(TRDN):c.391G>C (p.Gly131Arg)
|
rs1245170587
|
|
NM_006073.4(TRDN):c.392-11T>C
|
|
|
NM_006073.4(TRDN):c.392-16T>C
|
|
|
NM_006073.4(TRDN):c.392-6G>C
|
rs1781166505
|
|
NM_006073.4(TRDN):c.392-7G>T
|
rs1781166753
|
|
NM_006073.4(TRDN):c.402T>C (p.Asp134=)
|
rs1583222819
|
|
NM_006073.4(TRDN):c.410C>T (p.Pro137Leu)
|
rs1242484153
|
|
NM_006073.4(TRDN):c.411C>T (p.Pro137=)
|
|
|
NM_006073.4(TRDN):c.414G>A (p.Leu138=)
|
|
|
NM_006073.4(TRDN):c.416G>A (p.Arg139Lys)
|
rs1562379256
|
|
NM_006073.4(TRDN):c.417A>G (p.Arg139=)
|
rs1781163116
|
|
NM_006073.4(TRDN):c.41C>T (p.Thr14Ile)
|
rs2114538213
|
|
NM_006073.4(TRDN):c.423del (p.Glu142fs)
|
rs757805966
|
|
NM_006073.4(TRDN):c.424+12T>C
|
|
|
NM_006073.4(TRDN):c.424+13C>T
|
|
|
NM_006073.4(TRDN):c.424+14A>G
|
|
|
NM_006073.4(TRDN):c.424+8G>A
|
rs906772880
|
|
NM_006073.4(TRDN):c.424G>T (p.Glu142Ter)
|
|
|
NM_006073.4(TRDN):c.425-11T>C
|
rs2114339291
|
|
NM_006073.4(TRDN):c.425-11T>G
|
|
|
NM_006073.4(TRDN):c.425-11dup
|
rs950851610
|
|
NM_006073.4(TRDN):c.425-12A>G
|
|
|
NM_006073.4(TRDN):c.425-14C>A
|
|
|
NM_006073.4(TRDN):c.425-4_425-3insLINE1
|
|
|
NM_006073.4(TRDN):c.425-7T>C
|
|
|
NM_006073.4(TRDN):c.427A>C (p.Ile143Leu)
|
|
|
NM_006073.4(TRDN):c.432C>G (p.His144Gln)
|
|
|
NM_006073.4(TRDN):c.432C>T (p.His144=)
|
|
|
NM_006073.4(TRDN):c.436G>T (p.Asp146Tyr)
|
rs1780197036
|
|
NM_006073.4(TRDN):c.438_442del (p.Asp146_Lys147insTer)
|
rs752256846
|
|
NM_006073.4(TRDN):c.439_440del (p.Lys147fs)
|
rs2114339116
|
|
NM_006073.4(TRDN):c.440A>G (p.Lys147Arg)
|
rs2114339102
|
|
NM_006073.4(TRDN):c.445G>A (p.Glu149Lys)
|
rs902398250
|
|
NM_006073.4(TRDN):c.44_49del (p.Thr15_Val16del)
|
rs1271763031
|
|
NM_006073.4(TRDN):c.451C>T (p.Gln151Ter)
|
|
|
NM_006073.4(TRDN):c.480T>C (p.Thr160=)
|
rs1020844292
|
|
NM_006073.4(TRDN):c.483del (p.Val162fs)
|
|
|
NM_006073.4(TRDN):c.484+10T>C
|
|
|
NM_006073.4(TRDN):c.484+17A>G
|
|
|
NM_006073.4(TRDN):c.484+6C>T
|
rs115773202
|
|
NM_006073.4(TRDN):c.485-18_485-15del
|
|
|
NM_006073.4(TRDN):c.485-19T>C
|
|
|
NM_006073.4(TRDN):c.485-20A>G
|
|
|
NM_006073.4(TRDN):c.485-2A>T
|
|
|
NM_006073.4(TRDN):c.485-8C>T
|
rs767131579
|
|
NM_006073.4(TRDN):c.488C>T (p.Thr163Ile)
|
|
|
NM_006073.4(TRDN):c.497AAAAAG[1] (p.166EK[1])
|
rs148596612
|
|
NM_006073.4(TRDN):c.502G>T (p.Glu168Ter)
|
rs545032318
|
|
NM_006073.4(TRDN):c.507dup (p.Gly170fs)
|
|
|
NM_006073.4(TRDN):c.50T>C (p.Ile17Thr)
|
rs1583264951
|
|
NM_006073.4(TRDN):c.515_520del (p.Glu172_Lys173del)
|
|
|
NM_006073.4(TRDN):c.520_550+494del
|
rs1562358749
|
|
NM_006073.4(TRDN):c.523A>C (p.Arg175=)
|
|
|
NM_006073.4(TRDN):c.525A>G (p.Arg175=)
|
|
|
NM_006073.4(TRDN):c.526GAAAAA[1] (p.176EK[1])
|
rs1319934569
|
|
NM_006073.4(TRDN):c.531del (p.Glu178fs)
|
rs1432170970
|
|
NM_006073.4(TRDN):c.532_533del (p.Glu178fs)
|
|
|
NM_006073.4(TRDN):c.53_56del (p.Asp18fs)
|
rs768049331
|
|
NM_006073.4(TRDN):c.542A>C (p.Glu181Ala)
|
|
|
NM_006073.4(TRDN):c.542A>T (p.Glu181Val)
|
|
|
NM_006073.4(TRDN):c.550+12C>T
|
rs2114871069
|
|
NM_006073.4(TRDN):c.550+1_550+2insA
|
|
|
NM_006073.4(TRDN):c.550G>A (p.Ala184Thr)
|
rs576028226
|
|
NM_006073.4(TRDN):c.551-10T>C
|
|
|
NM_006073.4(TRDN):c.551-11T>A
|
|
|
NM_006073.4(TRDN):c.551-19G>C
|
|
|
NM_006073.4(TRDN):c.551-20T>C
|
rs1554251627
|
|
NM_006073.4(TRDN):c.551-7G>A
|
|
|
NM_006073.4(TRDN):c.551-7G>C
|
|
|
NM_006073.4(TRDN):c.568dup (p.Ile190fs)
|
rs1085307100
|
|
NM_006073.4(TRDN):c.569T>A (p.Ile190Asn)
|
rs1205195262
|
|
NM_006073.4(TRDN):c.573dup (p.Lys192fs)
|
rs1554251609
|
|
NM_006073.4(TRDN):c.579A>G (p.Lys193=)
|
|
|
NM_006073.4(TRDN):c.585A>G (p.Lys195=)
|
|
|
NM_006073.4(TRDN):c.587C>A (p.Pro196Gln)
|
|
|
NM_006073.4(TRDN):c.587C>T (p.Pro196Leu)
|
rs1277590915
|
|
NM_006073.4(TRDN):c.587dup (p.Glu197fs)
|
|
|
NM_006073.4(TRDN):c.591A>G (p.Glu197=)
|
|
|
NM_006073.4(TRDN):c.604_610+47del
|
rs1554251571
|
|
NM_006073.4(TRDN):c.610+10C>A
|
rs1779222090
|
|
NM_006073.4(TRDN):c.610+10C>G
|
|
|
NM_006073.4(TRDN):c.610+11A>G
|
|
|
NM_006073.4(TRDN):c.611-1G>A
|
|
|
NM_006073.4(TRDN):c.611A>G (p.Glu204Gly)
|
|
|
NM_006073.4(TRDN):c.618del (p.Ala208fs)
|
rs1060502114
|
|
NM_006073.4(TRDN):c.62A>C (p.Asn21Thr)
|
|
|
NM_006073.4(TRDN):c.630T>C (p.Thr210=)
|
|
|
NM_006073.4(TRDN):c.651G>A (p.Lys217=)
|
rs781233223
|
|
NM_006073.4(TRDN):c.655A>G (p.Lys219Glu)
|
rs1562351485
|
|
NM_006073.4(TRDN):c.658A>T (p.Lys220Ter)
|
rs2114833320
|
|
NM_006073.4(TRDN):c.659A>G (p.Lys220Arg)
|
|
|
NM_006073.4(TRDN):c.669A>G (p.Lys223=)
|
|
|
NM_006073.4(TRDN):c.670G>A (p.Gly224Ser)
|
|
|
NM_006073.4(TRDN):c.693G>A (p.Lys231=)
|
rs754258360
|
|
NM_006073.4(TRDN):c.705A>G (p.Ala235=)
|
rs1778803094
|
|
NM_006073.4(TRDN):c.712A>G (p.Lys238Glu)
|
|
|
NM_006073.4(TRDN):c.721C>T (p.Gln241Ter)
|
|
|
NM_006073.4(TRDN):c.730C>A (p.Pro244Thr)
|
rs2114833034
|
|
NM_006073.4(TRDN):c.742A>G (p.Lys248Glu)
|
rs2114833012
|
|
NM_006073.4(TRDN):c.744del (p.Glu249fs)
|
|
|
NM_006073.4(TRDN):c.750G>T (p.Lys250Asn)
|
rs138912040
|
|
NM_006073.4(TRDN):c.779A>G (p.Lys260Arg)
|
|
|
NM_006073.4(TRDN):c.780G>A (p.Lys260=)
|
rs771614858
|
|
NM_006073.4(TRDN):c.790A>G (p.Lys264Glu)
|
rs574484615
|
|
NM_006073.4(TRDN):c.793+16A>C
|
|
|
NM_006073.4(TRDN):c.793+7A>G
|
rs373240967
|
|
NM_006073.4(TRDN):c.794-10A>G
|
|
|
NM_006073.4(TRDN):c.794-11T>C
|
|
|
NM_006073.4(TRDN):c.794-12C>T
|
|
|
NM_006073.4(TRDN):c.794-8T>A
|
|
|
NM_006073.4(TRDN):c.794-9C>T
|
|
|
NM_006073.4(TRDN):c.795T>A (p.Asp265Glu)
|
|
|
NM_006073.4(TRDN):c.798G>C (p.Gln266His)
|
rs1562347184
|
|
NM_006073.4(TRDN):c.802G>A (p.Ala268Thr)
|
rs1223374508
|
|
NM_006073.4(TRDN):c.803C>T (p.Ala268Val)
|
rs1465535140
|
|
NM_006073.4(TRDN):c.805T>G (p.Phe269Val)
|
|
|
NM_006073.4(TRDN):c.809G>A (p.Cys270Tyr)
|
rs1778487507
|
|
NM_006073.4(TRDN):c.80C>T (p.Ser27Phe)
|
rs770488451
|
|
NM_006073.4(TRDN):c.812G>C (p.Arg271Pro)
|
|
|
NM_006073.4(TRDN):c.81C>T (p.Ser27=)
|
rs2114538002
|
|
NM_006073.4(TRDN):c.829T>G (p.Phe277Val)
|
|
|
NM_006073.4(TRDN):c.832G>C (p.Val278Leu)
|
|
|
NM_006073.4(TRDN):c.833T>C (p.Val278Ala)
|
rs954714094
|
|
NM_006073.4(TRDN):c.836A>G (p.His279Arg)
|
rs1251196961
|
|
NM_006073.4(TRDN):c.839G>A (p.Gly280Glu)
|
rs903971281
|
|
NM_006073.4(TRDN):c.840G>T (p.Gly280=)
|
|
|
NM_006073.4(TRDN):c.842A>T (p.Asp281Val)
|
|
|
NM_006073.4(TRDN):c.853+10G>A
|
|
|
NM_006073.4(TRDN):c.853+11C>T
|
|
|
NM_006073.4(TRDN):c.854-10C>A
|
|
|
NM_006073.4(TRDN):c.854-13C>G
|
|
|
NM_006073.4(TRDN):c.854-17A>G
|
rs1776700892
|
|
NM_006073.4(TRDN):c.854-4G>A
|
|
|
NM_006073.4(TRDN):c.856_890del (p.Gln286fs)
|
|
|
NM_006073.4(TRDN):c.861C>T (p.Ser287=)
|
rs769586528
|
|
NM_006073.4(TRDN):c.865G>A (p.Ala289Thr)
|
|
|
NM_006073.4(TRDN):c.872C>T (p.Pro291Leu)
|
rs530972011
|
|
NM_006073.4(TRDN):c.874C>T (p.Pro292Ser)
|
|
|
NM_006073.4(TRDN):c.876T>A (p.Pro292=)
|
|
|
NM_006073.4(TRDN):c.87A>T (p.Gly29=)
|
|
|
NM_006073.4(TRDN):c.899C>G (p.Ser300Cys)
|
rs2114709180
|
|
NM_006073.4(TRDN):c.901A>C (p.Arg301=)
|
|
|
NM_006073.4(TRDN):c.90A>T (p.Lys30Asn)
|
rs2114537932
|
|
NM_006073.4(TRDN):c.91del (p.Val31fs)
|
rs2114537918
|
|
NM_006073.4(TRDN):c.920C>T (p.Pro307Leu)
|
|
|
NM_006073.4(TRDN):c.923C>T (p.Ala308Val)
|
rs1776696081
|
|
NM_006073.4(TRDN):c.925C>T (p.Leu309Phe)
|
|
|
NM_006073.4(TRDN):c.92T>A (p.Val31Glu)
|
|
|
NM_006073.4(TRDN):c.931+14T>G
|
|
|
NM_006073.4(TRDN):c.931+18del
|
rs201431159
|
|
NM_006073.4(TRDN):c.931+18dup
|
rs201431159
|
|
NM_006073.4(TRDN):c.931+9T>C
|
rs2114709001
|
|
NM_006073.4(TRDN):c.932-6C>A
|
rs886061033
|
|
NM_006073.4(TRDN):c.945A>G (p.Glu315=)
|
|
|
NM_006073.4(TRDN):c.946AAG[2] (p.Lys318del)
|
rs1774734616
|
|
NM_006073.4(TRDN):c.947A>T (p.Lys316Met)
|
|
|
NM_006073.4(TRDN):c.948G>A (p.Lys316=)
|
rs1060504473
|
|
NM_006073.4(TRDN):c.94C>A (p.Leu32Met)
|
rs755548582
|
|
NM_006073.4(TRDN):c.963G>A (p.Lys321=)
|
|
|
NM_006073.4(TRDN):c.984A>T (p.Lys328Asn)
|
rs1774733806
|
|
NM_006073.4(TRDN):c.991+19A>G
|
|
|
NM_006073.4(TRDN):c.991+1G>A
|
|
|
NM_006073.4(TRDN):c.992-13A>G
|
|
|
NM_006073.4(TRDN):c.992-15T>C
|
|
|
NM_006073.4(TRDN):c.992-6C>T
|
|
|
NM_006073.4(TRDN):c.992-8A>G
|
|
|
NM_006073.4(TRDN):c.9G>C (p.Glu3Asp)
|
rs1185669572
|
|
NM_006888.6(CALM1):c.106G>C (p.Val36Leu)
|
rs1887015236
|
|
NM_006888.6(CALM1):c.108C>T (p.Val36=)
|
rs1476676874
|
|
NM_006888.6(CALM1):c.118C>T (p.Leu40=)
|
rs2139767906
|
|
NM_006888.6(CALM1):c.150G>A (p.Gln50=)
|
|
|
NM_006888.6(CALM1):c.154A>G (p.Met52Val)
|
|
|
NM_006888.6(CALM1):c.157A>G (p.Ile53Val)
|
rs1555365887
|
|
NM_006888.6(CALM1):c.178+16C>A
|
|
|
NM_006888.6(CALM1):c.178+20G>T
|
|
|
NM_006888.6(CALM1):c.179-14T>C
|
|
|
NM_006888.6(CALM1):c.179-17T>G
|
|
|
NM_006888.6(CALM1):c.179-4C>T
|
|
|
NM_006888.6(CALM1):c.179-9dup
|
|
|
NM_006888.6(CALM1):c.198C>T (p.Phe66=)
|
|
|
NM_006888.6(CALM1):c.199C>T (p.Pro67Ser)
|
|
|
NM_006888.6(CALM1):c.213T>C (p.Thr71=)
|
|
|
NM_006888.6(CALM1):c.225A>G (p.Arg75=)
|
rs1887098758
|
|
NM_006888.6(CALM1):c.234A>G (p.Lys78=)
|
|
|
NM_006888.6(CALM1):c.237T>C (p.Asp79=)
|
|
|
NM_006888.6(CALM1):c.240A>G (p.Thr80=)
|
|
|
NM_006888.6(CALM1):c.243T>C (p.Asp81=)
|
|
|
NM_006888.6(CALM1):c.258C>A (p.Ile86=)
|
|
|
NM_006888.6(CALM1):c.264G>A (p.Glu88=)
|
|
|
NM_006888.6(CALM1):c.267A>G (p.Ala89=)
|
rs2139771046
|
|
NM_006888.6(CALM1):c.27G>A (p.Gln9=)
|
|
|
NM_006888.6(CALM1):c.280G>C (p.Asp94His)
|
rs1887099943
|
|
NM_006888.6(CALM1):c.285+12T>A
|
|
|
NM_006888.6(CALM1):c.285+15A>G
|
|
|
NM_006888.6(CALM1):c.286-18A>G
|
|
|
NM_006888.6(CALM1):c.286-20C>T
|
|
|
NM_006888.6(CALM1):c.286-9T>C
|
|
|
NM_006888.6(CALM1):c.286G>T (p.Asp96Tyr)
|
|
|
NM_006888.6(CALM1):c.293A>G (p.Asn98Ser)
|
rs267607277
|
|
NM_006888.6(CALM1):c.293A>T (p.Asn98Ile)
|
|
|
NM_006888.6(CALM1):c.3+10G>C
|
|
|
NM_006888.6(CALM1):c.3+14G>T
|
|
|
NM_006888.6(CALM1):c.3+15G>A
|
|
|
NM_006888.6(CALM1):c.301A>G (p.Ile101Val)
|
rs1595102592
|
|
NM_006888.6(CALM1):c.327C>T (p.Val109=)
|
|
|
NM_006888.6(CALM1):c.328A>C (p.Met110Leu)
|
rs2139771638
|
|
NM_006888.6(CALM1):c.336C>T (p.Asn112=)
|
|
|
NM_006888.6(CALM1):c.34+12A>C
|
rs752987778
|
|
NM_006888.6(CALM1):c.34+12A>G
|
|
|
NM_006888.6(CALM1):c.34+16C>T
|
rs758632437
|
|
NM_006888.6(CALM1):c.34+19G>T
|
rs755923535
|
|
NM_006888.6(CALM1):c.35-11T>A
|
|
|
NM_006888.6(CALM1):c.35-12_35-11delinsCC
|
|
|
NM_006888.6(CALM1):c.35-13del
|
rs1555365883
|
|
NM_006888.6(CALM1):c.35-14A>G
|
|
|
NM_006888.6(CALM1):c.35-19G>A
|
|
|
NM_006888.6(CALM1):c.35-44_77dup
|
|
|
NM_006888.6(CALM1):c.358G>A (p.Glu120Lys)
|
|
|
NM_006888.6(CALM1):c.390T>C (p.Asp130=)
|
rs2139771676
|
|
NM_006888.6(CALM1):c.394G>A (p.Asp132Asn)
|
rs1595102640
|
|
NM_006888.6(CALM1):c.395A>G (p.Asp132Gly)
|
rs1887113791
|
|
NM_006888.6(CALM1):c.395A>T (p.Asp132Val)
|
rs1887113791
|
|
NM_006888.6(CALM1):c.398G>A (p.Gly133Glu)
|
rs1555366045
|
|
NM_006888.6(CALM1):c.398G>C (p.Gly133Ala)
|
|
|
NM_006888.6(CALM1):c.4-15del
|
|
|
NM_006888.6(CALM1):c.4-3T>C
|
|
|
NM_006888.6(CALM1):c.4-6A>G
|
|
|
NM_006888.6(CALM1):c.4-6A>T
|
|
|
NM_006888.6(CALM1):c.4-7C>T
|
|
|
NM_006888.6(CALM1):c.4-9T>C
|
|
|
NM_006888.6(CALM1):c.402C>G (p.Asp134Glu)
|
|
|
NM_006888.6(CALM1):c.405A>G (p.Gly135=)
|
|
|
NM_006888.6(CALM1):c.411C>A (p.Val137=)
|
|
|
NM_006888.6(CALM1):c.411C>G (p.Val137=)
|
rs749827346
|
|
NM_006888.6(CALM1):c.421+10A>G
|
|
|
NM_006888.6(CALM1):c.421+16C>G
|
rs267607279
|
|
NM_006888.6(CALM1):c.421+6dup
|
rs2139771726
|
|
NM_006888.6(CALM1):c.421+7_421+10del
|
rs771894805
|
|
NM_006888.6(CALM1):c.422-10G>A
|
|
|
NM_006888.6(CALM1):c.422-15T>C
|
|
|
NM_006888.6(CALM1):c.422-16_422-12del
|
|
|
NM_006888.6(CALM1):c.422-19A>G
|
|
|
NM_006888.6(CALM1):c.422-8C>T
|
|
|
NM_006888.6(CALM1):c.424T>C (p.Phe142Leu)
|
rs1085307479
|
|
NM_006888.6(CALM1):c.426C>A (p.Phe142Leu)
|
rs199744595
|
|
NM_006888.6(CALM1):c.70G>A (p.Gly24Ser)
|
|
|
NM_006888.6(CALM1):c.78C>T (p.Gly26=)
|
rs1555365884
|
|
NM_006888.6(CALM1):c.84C>T (p.Ile28=)
|
|
|
NM_006888.6(CALM1):c.87A>C (p.Thr29=)
|
rs2139767870
|
|
NM_006888.6(CALM1):c.90A>C (p.Thr30=)
|
rs1595100965
|
|