NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)
|
rs200563280
|
0.00013
|
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)
|
rs118192172
|
0.00011
|
NM_000540.3(RYR1):c.10348-6C>G
|
rs193922837
|
0.00010
|
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)
|
rs200546266
|
0.00010
|
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp)
|
rs536304635
|
0.00008
|
NM_000540.3(RYR1):c.6640G>A (p.Val2214Ile)
|
rs193922795
|
0.00006
|
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)
|
rs121918593
|
0.00006
|
NM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp)
|
rs587784379
|
0.00006
|
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly)
|
rs367543058
|
0.00005
|
NM_000540.3(RYR1):c.14344G>A (p.Gly4782Arg)
|
rs746538672
|
0.00005
|
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp)
|
rs118192173
|
0.00005
|
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter)
|
rs377178986
|
0.00004
|
NM_000540.3(RYR1):c.1250T>C (p.Leu417Pro)
|
rs764262446
|
0.00004
|
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met)
|
rs118192140
|
0.00004
|
NM_000540.3(RYR1):c.5340_5341del (p.Cys1781fs)
|
rs779723153
|
0.00004
|
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met)
|
rs118192177
|
0.00004
|
NM_000540.3(RYR1):c.13691G>A (p.Arg4564Gln)
|
rs864309559
|
0.00003
|
NM_000540.3(RYR1):c.14928C>G (p.Phe4976Leu)
|
rs368874586
|
0.00003
|
NM_000540.3(RYR1):c.1589G>A (p.Arg530His)
|
rs111888148
|
0.00003
|
NM_000540.3(RYR1):c.5120G>A (p.Arg1707His)
|
rs371566475
|
0.00003
|
NM_000540.3(RYR1):c.7210G>A (p.Glu2404Lys)
|
rs111364296
|
0.00003
|
NM_000540.3(RYR1):c.9847C>T (p.Arg3283Ter)
|
rs752199191
|
0.00003
|
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp)
|
rs763112609
|
0.00002
|
NM_000540.3(RYR1):c.1201C>T (p.Arg401Cys)
|
rs193922764
|
0.00002
|
NM_000540.3(RYR1):c.122T>C (p.Phe41Ser)
|
rs766407858
|
0.00002
|
NM_000540.3(RYR1):c.14173-2A>G
|
rs1189024951
|
0.00002
|
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)
|
rs146876145
|
0.00002
|
NM_000540.3(RYR1):c.4674dup (p.Asn1559fs)
|
rs759632485
|
0.00002
|
NM_000540.3(RYR1):c.6599C>T (p.Ala2200Val)
|
rs193922791
|
0.00002
|
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile)
|
rs193922797
|
0.00002
|
NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp)
|
rs193922803
|
0.00002
|
NM_000540.3(RYR1):c.103T>C (p.Cys35Arg)
|
rs193922747
|
0.00001
|
NM_000540.3(RYR1):c.10749_10753del (p.Glu3584fs)
|
rs1412691915
|
0.00001
|
NM_000540.3(RYR1):c.11193+2T>C
|
rs1971785665
|
0.00001
|
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln)
|
rs193922839
|
0.00001
|
NM_000540.3(RYR1):c.11708G>A (p.Arg3903Gln)
|
rs148399313
|
0.00001
|
NM_000540.3(RYR1):c.131G>A (p.Arg44His)
|
rs139161723
|
0.00001
|
NM_000540.3(RYR1):c.13525_13531dup (p.Lys4511fs)
|
rs928989953
|
0.00001
|
NM_000540.3(RYR1):c.13672C>T (p.Arg4558Trp)
|
rs771741606
|
0.00001
|
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln)
|
rs118192130
|
0.00001
|
NM_000540.3(RYR1):c.14130-2A>G
|
rs1457662393
|
0.00001
|
NM_000540.3(RYR1):c.14209C>T (p.Arg4737Trp)
|
rs193922867
|
0.00001
|
NM_000540.3(RYR1):c.14474G>A (p.Arg4825His)
|
rs193922875
|
0.00001
|
NM_000540.3(RYR1):c.14512-1G>A
|
rs1064793932
|
0.00001
|
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile)
|
rs118192168
|
0.00001
|
NM_000540.3(RYR1):c.14645C>T (p.Thr4882Met)
|
rs193922884
|
0.00001
|
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr)
|
rs118192158
|
0.00001
|
NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter)
|
rs1432807966
|
0.00001
|
NM_000540.3(RYR1):c.14939C>T (p.Thr4980Met)
|
rs398123471
|
0.00001
|
NM_000540.3(RYR1):c.1597C>T (p.Arg533Cys)
|
rs193922768
|
0.00001
|
NM_000540.3(RYR1):c.163C>T (p.Gln55Ter)
|
rs779061307
|
0.00001
|
NM_000540.3(RYR1):c.1951C>T (p.Arg651Ter)
|
rs754522209
|
0.00001
|
NM_000540.3(RYR1):c.1983G>A (p.Trp661Ter)
|
rs1305971341
|
0.00001
|
NM_000540.3(RYR1):c.2113G>A (p.Gly705Arg)
|
rs565825739
|
0.00001
|
NM_000540.3(RYR1):c.223C>T (p.Arg75Ter)
|
rs1346649518
|
0.00001
|
NM_000540.3(RYR1):c.2293G>C (p.Gly765Arg)
|
rs1380227293
|
0.00001
|
NM_000540.3(RYR1):c.2455C>T (p.Arg819Ter)
|
rs193922774
|
0.00001
|
NM_000540.3(RYR1):c.2577+1G>A
|
rs1416605332
|
0.00001
|
NM_000540.3(RYR1):c.3223C>T (p.Arg1075Trp)
|
rs573649990
|
0.00001
|
NM_000540.3(RYR1):c.3224G>A (p.Arg1075Gln)
|
rs749040743
|
0.00001
|
NM_000540.3(RYR1):c.3301G>A (p.Val1101Met)
|
rs145088074
|
0.00001
|
NM_000540.3(RYR1):c.3362A>G (p.Tyr1121Cys)
|
rs756138074
|
0.00001
|
NM_000540.3(RYR1):c.3424del (p.Trp1142fs)
|
rs1168352165
|
0.00001
|
NM_000540.3(RYR1):c.3523G>A (p.Glu1175Lys)
|
rs769744438
|
0.00001
|
NM_000540.3(RYR1):c.3686_3699del (p.Met1229fs)
|
rs774319202
|
0.00001
|
NM_000540.3(RYR1):c.3688C>T (p.Gln1230Ter)
|
rs1186905126
|
0.00001
|
NM_000540.3(RYR1):c.4225C>T (p.Arg1409Ter)
|
rs587784376
|
0.00001
|
NM_000540.3(RYR1):c.529C>T (p.Arg177Cys)
|
rs193922757
|
0.00001
|
NM_000540.3(RYR1):c.5314A>G (p.Arg1772Gly)
|
rs1568484835
|
0.00001
|
NM_000540.3(RYR1):c.631+1G>T
|
rs374937694
|
0.00001
|
NM_000540.3(RYR1):c.6487C>T (p.Arg2163Cys)
|
rs118192175
|
0.00001
|
NM_000540.3(RYR1):c.6584C>T (p.Pro2195Leu)
|
rs772003357
|
0.00001
|
NM_000540.3(RYR1):c.6700C>T (p.Arg2234Cys)
|
rs201465595
|
0.00001
|
NM_000540.3(RYR1):c.7007G>A (p.Arg2336His)
|
rs112563513
|
0.00001
|
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys)
|
rs118192174
|
0.00001
|
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr)
|
rs193922809
|
0.00001
|
NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys)
|
rs193922816
|
0.00001
|
NM_000540.3(RYR1):c.7361G>A (p.Arg2454His)
|
rs118192122
|
0.00001
|
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys)
|
rs28933397
|
0.00001
|
NM_000540.3(RYR1):c.7373G>A (p.Arg2458His)
|
rs121918594
|
0.00001
|
NM_000540.3(RYR1):c.7858C>T (p.Gln2620Ter)
|
rs1365856881
|
0.00001
|
NM_000540.3(RYR1):c.8026C>T (p.Arg2676Trp)
|
rs193922826
|
0.00001
|
NM_000540.3(RYR1):c.838C>T (p.Arg280Ter)
|
rs1278804520
|
0.00001
|
NM_000540.3(RYR1):c.8843del (p.Ser2948fs)
|
rs765921831
|
0.00001
|
NM_000540.3(RYR1):c.8888T>C (p.Leu2963Pro)
|
rs756870293
|
0.00001
|
NM_000540.3(RYR1):c.9157C>T (p.Arg3053Ter)
|
rs1374378105
|
0.00001
|
NM_000540.3(RYR1):c.9413C>T (p.Pro3138Leu)
|
rs762652935
|
0.00001
|
NM_000540.3(RYR1):c.9571G>A (p.Gly3191Arg)
|
rs756331568
|
0.00001
|
NM_000540.3(RYR1):c.9605C>T (p.Pro3202Leu)
|
rs754002399
|
0.00001
|
NM_000540.3(RYR1):c.9623C>T (p.Pro3208Leu)
|
rs758210285
|
0.00001
|
NC_000019.10:g.(?_38502497)_(38502980_?)del
|
|
|
NC_000019.10:g.(?_38502501)_(38502976_?)del
|
|
|
NC_000019.10:g.(?_38546435)_(38546536_?)del
|
|
|
NC_000019.10:g.38473377del
|
|
|
NC_000019.9:g.(?_38938975)_(38993630_?)del
|
|
|
NC_000019.9:g.(?_38954043)_(38954510_?)del
|
|
|
NC_000019.9:g.(?_38993127)_(38993630_?)del
|
|
|
NC_000019.9:g.(?_39002191)_(39003133_?)del
|
|
|
NC_000019.9:g.(?_39033967)_(39039080_?)del
|
|
|
NC_000019.9:g.(?_39055579)_(39063967_?)del
|
|
|
NC_000019.9:g.(?_39074134)_(39077236_?)del
|
|
|
NC_000019.9:g.(?_39075563)_(39078060_?)del
|
|
|
NM_000540.2(RYR1):c.958_960delGAG
|
rs1064794313
|
|
NM_000540.3(RYR1):c.1007del (p.Pro336fs)
|
|
|
NM_000540.3(RYR1):c.1008del (p.Glu337fs)
|
|
|
NM_000540.3(RYR1):c.10096del (p.Arg3366fs)
|
|
|
NM_000540.3(RYR1):c.10162del (p.Gln3388fs)
|
rs1568530776
|
|
NM_000540.3(RYR1):c.10171G>T (p.Glu3391Ter)
|
|
|
NM_000540.3(RYR1):c.1021G>A (p.Gly341Arg)
|
rs121918592
|
|
NM_000540.3(RYR1):c.10278_10282dup (p.Asn3428fs)
|
rs2145702358
|
|
NM_000540.3(RYR1):c.10283_10290dup (p.Ala3431fs)
|
|
|
NM_000540.3(RYR1):c.10334G>A (p.Trp3445Ter)
|
|
|
NM_000540.3(RYR1):c.10347+1G>A
|
rs111436401
|
|
NM_000540.3(RYR1):c.10381C>T (p.Gln3461Ter)
|
|
|
NM_000540.3(RYR1):c.10450dup (p.Ile3484fs)
|
|
|
NM_000540.3(RYR1):c.10453C>T (p.Gln3485Ter)
|
rs199895006
|
|
NM_000540.3(RYR1):c.10471C>T (p.Gln3491Ter)
|
rs2145711507
|
|
NM_000540.3(RYR1):c.10543A>T (p.Lys3515Ter)
|
|
|
NM_000540.3(RYR1):c.10565_10566insAA (p.Asn3523fs)
|
|
|
NM_000540.3(RYR1):c.10615del (p.Arg3539fs)
|
|
|
NM_000540.3(RYR1):c.10619dup (p.Tyr3540Ter)
|
rs780578391
|
|
NM_000540.3(RYR1):c.10627-1G>C
|
rs1568539909
|
|
NM_000540.3(RYR1):c.10656del (p.Leu3553fs)
|
|
|
NM_000540.3(RYR1):c.10671del (p.His3558fs)
|
|
|
NM_000540.3(RYR1):c.10690_10703del (p.Glu3564fs)
|
rs1555790914
|
|
NM_000540.3(RYR1):c.10700del (p.Pro3567fs)
|
rs1971528310
|
|
NM_000540.3(RYR1):c.10725_10726del (p.Tyr3576fs)
|
rs1555790936
|
|
NM_000540.3(RYR1):c.10799C>G (p.Ser3600Ter)
|
rs1290121403
|
|
NM_000540.3(RYR1):c.10839C>A (p.Tyr3613Ter)
|
rs1052742630
|
|
NM_000540.3(RYR1):c.10896dup (p.Val3633fs)
|
rs1971574442
|
|
NM_000540.3(RYR1):c.10946dup (p.Cys3650fs)
|
|
|
NM_000540.3(RYR1):c.10960del (p.Leu3654fs)
|
rs1971589827
|
|
NM_000540.3(RYR1):c.10961del (p.Leu3654fs)
|
|
|
NM_000540.3(RYR1):c.11119del (p.Arg3707fs)
|
|
|
NM_000540.3(RYR1):c.11126C>T (p.Ala3709Val)
|
rs1555791418
|
|
NM_000540.3(RYR1):c.11132C>T (p.Thr3711Met)
|
rs375915752
|
|
NM_000540.3(RYR1):c.11159_11162dup (p.Tyr3722fs)
|
rs2145736348
|
|
NM_000540.3(RYR1):c.11245G>T (p.Glu3749Ter)
|
|
|
NM_000540.3(RYR1):c.11272del (p.Glu3758fs)
|
|
|
NM_000540.3(RYR1):c.11320del (p.Ala3774fs)
|
rs768698639
|
|
NM_000540.3(RYR1):c.11326G>T (p.Glu3776Ter)
|
|
|
NM_000540.3(RYR1):c.11434C>T (p.Gln3812Ter)
|
|
|
NM_000540.3(RYR1):c.11494C>T (p.Gln3832Ter)
|
|
|
NM_000540.3(RYR1):c.11662C>T (p.Gln3888Ter)
|
rs1555793236
|
|
NM_000540.3(RYR1):c.11776C>T (p.Gln3926Ter)
|
|
|
NM_000540.3(RYR1):c.11778+1G>T
|
rs1555794209
|
|
NM_000540.3(RYR1):c.11871dup (p.Lys3958Ter)
|
|
|
NM_000540.3(RYR1):c.11895_11896del (p.Glu3966fs)
|
|
|
NM_000540.3(RYR1):c.11929C>T (p.Gln3977Ter)
|
rs1447117024
|
|
NM_000540.3(RYR1):c.11947C>T (p.Arg3983Cys)
|
rs1600989183
|
|
NM_000540.3(RYR1):c.11956del (p.Asp3986fs)
|
|
|
NM_000540.3(RYR1):c.11958C>G (p.Asp3986Glu)
|
rs193922842
|
|
NM_000540.3(RYR1):c.1198G>A (p.Ala400Thr)
|
rs777016690
|
|
NM_000540.3(RYR1):c.11992dup (p.Met3998fs)
|
|
|
NM_000540.3(RYR1):c.12010C>T (p.Gln4004Ter)
|
|
|
NM_000540.3(RYR1):c.12013-2A>G
|
|
|
NM_000540.3(RYR1):c.12022C>T (p.Gln4008Ter)
|
rs2145784292
|
|
NM_000540.3(RYR1):c.1202G>A (p.Arg401His)
|
rs193922766
|
|
NM_000540.3(RYR1):c.12063_12064dup (p.Met4022fs)
|
rs1419938249
|
|
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu)
|
rs794728696
|
|
NM_000540.3(RYR1):c.12110del (p.Gly4037fs)
|
rs1555795308
|
|
NM_000540.3(RYR1):c.12113dup (p.Met4038fs)
|
rs1568562752
|
|
NM_000540.3(RYR1):c.12149C>A (p.Ser4050Tyr)
|
rs193922844
|
|
NM_000540.3(RYR1):c.1218del (p.Asn407fs)
|
rs1568443969
|
|
NM_000540.3(RYR1):c.12241_12242del (p.Thr4081fs)
|
rs755659741
|
|
NM_000540.3(RYR1):c.12277del (p.Gln4093fs)
|
|
|
NM_000540.3(RYR1):c.12295_12301del (p.Gln4099fs)
|
|
|
NM_000540.3(RYR1):c.12319del (p.Ile4107fs)
|
rs754572007
|
|
NM_000540.3(RYR1):c.12371_12372delinsAA (p.Cys4124Ter)
|
|
|
NM_000540.3(RYR1):c.12487del (p.Leu4163fs)
|
rs748048642
|
|
NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter)
|
rs772494345
|
|
NM_000540.3(RYR1):c.12532G>A (p.Gly4178Ser)
|
rs1057518885
|
|
NM_000540.3(RYR1):c.12567del (p.Ile4189fs)
|
rs1973133322
|
|
NM_000540.3(RYR1):c.12582C>G (p.Phe4194Leu)
|
rs753263342
|
|
NM_000540.3(RYR1):c.12607C>T (p.Gln4203Ter)
|
|
|
NM_000540.3(RYR1):c.1267_1276dup (p.Gly426fs)
|
rs1967149532
|
|
NM_000540.3(RYR1):c.12685_12704dup (p.Ser4235delinsArgArgTrpSerSerSerTer)
|
|
|
NM_000540.3(RYR1):c.12700G>C (p.Val4234Leu)
|
rs193922852
|
|
NM_000540.3(RYR1):c.12700G>T (p.Val4234Leu)
|
rs193922852
|
|
NM_000540.3(RYR1):c.12727G>A (p.Glu4243Lys)
|
rs1555799628
|
|
NM_000540.3(RYR1):c.12759del (p.Glu4254fs)
|
|
|
NM_000540.3(RYR1):c.12766G>T (p.Glu4256Ter)
|
rs770517037
|
|
NM_000540.3(RYR1):c.12769_12778del (p.Pro4257fs)
|
rs2145843523
|
|
NM_000540.3(RYR1):c.12822C>T (p.Gly4274=)
|
rs1568582347
|
|
NM_000540.3(RYR1):c.12829G>T (p.Glu4277Ter)
|
rs2145843996
|
|
NM_000540.3(RYR1):c.1286dup (p.Pro430fs)
|
|
|
NM_000540.3(RYR1):c.12877del (p.Ala4293fs)
|
|
|
NM_000540.3(RYR1):c.1290dup (p.Ala431fs)
|
|
|
NM_000540.3(RYR1):c.12916C>T (p.Arg4306Ter)
|
|
|
NM_000540.3(RYR1):c.12926_12929del (p.Ser4309fs)
|
|
|
NM_000540.3(RYR1):c.12954_12969dup (p.Thr4324fs)
|
|
|
NM_000540.3(RYR1):c.13011G>A (p.Trp4337Ter)
|
|
|
NM_000540.3(RYR1):c.13012del (p.Ala4338fs)
|
rs2145845243
|
|
NM_000540.3(RYR1):c.13013_13032del (p.Ala4338fs)
|
rs193922856
|
|
NM_000540.3(RYR1):c.13033_13067del (p.Ala4345fs)
|
|
|
NM_000540.3(RYR1):c.13041_13066del (p.Ala4348fs)
|
|
|
NM_000540.3(RYR1):c.13058del (p.Gly4353fs)
|
rs1447188345
|
|
NM_000540.3(RYR1):c.13068_13078del (p.Leu4358fs)
|
rs1973360239
|
|
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys)
|
rs193922748
|
|
NM_000540.3(RYR1):c.13175_13185del (p.His4392fs)
|
|
|
NM_000540.3(RYR1):c.13228G>T (p.Glu4410Ter)
|
|
|
NM_000540.3(RYR1):c.13370dup (p.Met4457fs)
|
|
|
NM_000540.3(RYR1):c.13416del (p.Ile4473fs)
|
rs2145847760
|
|
NM_000540.3(RYR1):c.1342A>T (p.Ile448Phe)
|
rs911417327
|
|
NM_000540.3(RYR1):c.13486del (p.Glu4496fs)
|
|
|
NM_000540.3(RYR1):c.13498G>T (p.Glu4500Ter)
|
rs752192756
|
|
NM_000540.3(RYR1):c.13534G>T (p.Glu4512Ter)
|
rs1568587495
|
|
NM_000540.3(RYR1):c.13573C>T (p.Gln4525Ter)
|
rs2145855461
|
|
NM_000540.3(RYR1):c.13609_13631dup (p.Val4547fs)
|
rs1599641280
|
|
NM_000540.3(RYR1):c.13665C>G (p.Tyr4555Ter)
|
|
|
NM_000540.3(RYR1):c.13672C>G (p.Arg4558Gly)
|
rs771741606
|
|
NM_000540.3(RYR1):c.13690C>T (p.Arg4564Trp)
|
rs753208767
|
|
NM_000540.3(RYR1):c.13703T>C (p.Leu4568Pro)
|
rs118192131
|
|
NM_000540.3(RYR1):c.13743T>G (p.Tyr4581Ter)
|
|
|
NM_000540.3(RYR1):c.13780dup (p.Glu4594fs)
|
rs2145869510
|
|
NM_000540.3(RYR1):c.13782del (p.Gly4595fs)
|
rs1555801850
|
|
NM_000540.3(RYR1):c.1381G>T (p.Glu461Ter)
|
rs1159003478
|
|
NM_000540.3(RYR1):c.13892A>C (p.Tyr4631Ser)
|
rs1568593922
|
|
NM_000540.3(RYR1):c.13892A>G (p.Tyr4631Cys)
|
rs1568593922
|
|
NM_000540.3(RYR1):c.13893C>G (p.Tyr4631Ter)
|
|
|
NM_000540.3(RYR1):c.13895del (p.Phe4632fs)
|
rs1973745447
|
|
NM_000540.3(RYR1):c.13900G>T (p.Glu4634Ter)
|
rs118192133
|
|
NM_000540.3(RYR1):c.13903G>A (p.Glu4635Lys)
|
rs1555801879
|
|
NM_000540.3(RYR1):c.13909A>G (p.Thr4637Ala)
|
rs118192166
|
|
NM_000540.3(RYR1):c.13910C>T (p.Thr4637Ile)
|
rs118192134
|
|
NM_000540.3(RYR1):c.13913G>A (p.Gly4638Asp)
|
rs118192135
|
|
NM_000540.3(RYR1):c.13994T>C (p.Leu4665Pro)
|
rs2145870526
|
|
NM_000540.3(RYR1):c.14110C>T (p.Arg4704Ter)
|
rs1568595930
|
|
NM_000540.3(RYR1):c.14120_14129+14del
|
|
|
NM_000540.3(RYR1):c.14173-1G>A
|
|
|
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln)
|
rs193922868
|
|
NM_000540.3(RYR1):c.14364+1G>A
|
rs1974046221
|
|
NM_000540.3(RYR1):c.14378T>C (p.Leu4793Pro)
|
rs118192179
|
|
NM_000540.3(RYR1):c.14384G>A (p.Trp4795Ter)
|
|
|
NM_000540.3(RYR1):c.14385G>A (p.Trp4795Ter)
|
rs565173276
|
|
NM_000540.3(RYR1):c.14387A>G (p.Tyr4796Cys)
|
rs118192167
|
|
NM_000540.3(RYR1):c.14392dup (p.Val4798fs)
|
rs1555803803
|
|
NM_000540.3(RYR1):c.14416A>G (p.Asn4806Asp)
|
rs886039586
|
|
NM_000540.3(RYR1):c.14422_14423inv (p.Phe4808Asn)
|
|
|
NM_000540.3(RYR1):c.14437C>T (p.His4813Tyr)
|
rs2145895177
|
|
NM_000540.3(RYR1):c.14471T>C (p.Leu4824Pro)
|
rs193922874
|
|
NM_000540.3(RYR1):c.14473C>T (p.Arg4825Cys)
|
rs118192180
|
|
NM_000540.3(RYR1):c.14477C>T (p.Thr4826Ile)
|
rs121918595
|
|
NM_000540.3(RYR1):c.14537C>T (p.Ala4846Val)
|
rs118192143
|
|
NM_000540.3(RYR1):c.14539G>C (p.Val4847Leu)
|
rs1568605042
|
|
NM_000540.3(RYR1):c.14555A>G (p.Tyr4852Cys)
|
rs886042826
|
|
NM_000540.3(RYR1):c.14558C>A (p.Thr4853Asn)
|
|
|
NM_000540.3(RYR1):c.14558C>T (p.Thr4853Ile)
|
rs1555803922
|
|
NM_000540.3(RYR1):c.14569T>C (p.Phe4857Leu)
|
rs2145896622
|
|
NM_000540.3(RYR1):c.14570T>C (p.Phe4857Ser)
|
rs1974148669
|
|
NM_000540.3(RYR1):c.14579_14580delinsAA (p.Phe4860Ter)
|
rs1555803960
|
|
NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys)
|
rs118192181
|
|
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His)
|
rs63749869
|
|
NM_000540.3(RYR1):c.14582G>C (p.Arg4861Pro)
|
rs63749869
|
|
NM_000540.3(RYR1):c.14585A>C (p.Lys4862Thr)
|
rs1568605182
|
|
NM_000540.3(RYR1):c.14600G>A (p.Ser4867Asn)
|
rs587784373
|
|
NM_000540.3(RYR1):c.14667C>A (p.Tyr4889Ter)
|
rs193922887
|
|
NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp)
|
rs118192150
|
|
NM_000540.3(RYR1):c.14678G>A (p.Arg4893Gln)
|
rs118192151
|
|
NM_000540.3(RYR1):c.14684G>T (p.Gly4895Val)
|
rs1599674179
|
|
NM_000540.3(RYR1):c.14687G>A (p.Gly4896Glu)
|
rs1599674197
|
|
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr)
|
rs118192170
|
|
NM_000540.3(RYR1):c.14696G>A (p.Gly4899Glu)
|
rs118192183
|
|
NM_000540.3(RYR1):c.14731G>A (p.Glu4911Lys)
|
rs886044196
|
|
NM_000540.3(RYR1):c.14752G>A (p.Asp4918Asn)
|
rs1469916243
|
|
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del)
|
rs1064794572
|
|
NM_000540.3(RYR1):c.14789del (p.Leu4930fs)
|
|
|
NM_000540.3(RYR1):c.14807T>G (p.Leu4936Arg)
|
rs1568613061
|
|
NM_000540.3(RYR1):c.14845G>T (p.Glu4949Ter)
|
|
|
NM_000540.3(RYR1):c.14928C>A (p.Phe4976Leu)
|
|
|
NM_000540.3(RYR1):c.14938_14939del (p.Thr4980fs)
|
rs1568613455
|
|
NM_000540.3(RYR1):c.15016G>A (p.Gly5006Ser)
|
rs1568614042
|
|
NM_000540.3(RYR1):c.15017G>A (p.Gly5006Asp)
|
rs1555805797
|
|
NM_000540.3(RYR1):c.1615T>C (p.Phe539Leu)
|
rs193922769
|
|
NM_000540.3(RYR1):c.1654C>T (p.Arg552Trp)
|
rs193922770
|
|
NM_000540.3(RYR1):c.1659_1660delinsTT (p.Glu554Ter)
|
|
|
NM_000540.3(RYR1):c.1670C>T (p.Ser557Phe)
|
rs1967329033
|
|
NM_000540.3(RYR1):c.1739_1742dup (p.His581fs)
|
rs193922771
|
|
NM_000540.3(RYR1):c.177del (p.Asp60fs)
|
rs756326114
|
|
NM_000540.3(RYR1):c.177dup (p.Asp60fs)
|
rs756326114
|
|
NM_000540.3(RYR1):c.1841G>T (p.Arg614Leu)
|
rs193922772
|
|
NM_000540.3(RYR1):c.1878_1882del (p.Pro626_Gly627insTer)
|
rs797045931
|
|
NM_000540.3(RYR1):c.1966dup (p.Thr656fs)
|
|
|
NM_000540.3(RYR1):c.1982G>A (p.Trp661Ter)
|
rs748492214
|
|
NM_000540.3(RYR1):c.2005G>T (p.Glu669Ter)
|
rs768718943
|
|
NM_000540.3(RYR1):c.2029C>T (p.Gln677Ter)
|
rs878854365
|
|
NM_000540.3(RYR1):c.203del (p.Leu68fs)
|
|
|
NM_000540.3(RYR1):c.2060_2061del (p.Leu687fs)
|
rs1967521908
|
|
NM_000540.3(RYR1):c.208C>T (p.Gln70Ter)
|
rs1456276440
|
|
NM_000540.3(RYR1):c.2200C>T (p.Gln734Ter)
|
|
|
NM_000540.3(RYR1):c.221_222del (p.Val74fs)
|
|
|
NM_000540.3(RYR1):c.2290C>T (p.Gln764Ter)
|
rs371455345
|
|
NM_000540.3(RYR1):c.2427_2446dup (p.Pro816fs)
|
rs1460246826
|
|
NM_000540.3(RYR1):c.2449C>T (p.Arg817Ter)
|
|
|
NM_000540.3(RYR1):c.2485C>T (p.Arg829Ter)
|
rs778320565
|
|
NM_000540.3(RYR1):c.2505del (p.Pro836fs)
|
rs797045932
|
|
NM_000540.3(RYR1):c.2635G>T (p.Glu879Ter)
|
|
|
NM_000540.3(RYR1):c.2643G>A (p.Trp881Ter)
|
|
|
NM_000540.3(RYR1):c.2662C>T (p.Gln888Ter)
|
|
|
NM_000540.3(RYR1):c.2791_2792del (p.Leu931fs)
|
|
|
NM_000540.3(RYR1):c.2836G>T (p.Glu946Ter)
|
rs1967997615
|
|
NM_000540.3(RYR1):c.2870+1G>A
|
rs765241115
|
|
NM_000540.3(RYR1):c.2870+1G>T
|
rs765241115
|
|
NM_000540.3(RYR1):c.2984G>A (p.Trp995Ter)
|
rs1440262870
|
|
NM_000540.3(RYR1):c.2986del (p.Ala996fs)
|
rs1968093571
|
|
NM_000540.3(RYR1):c.2989C>T (p.Arg997Ter)
|
rs758925580
|
|
NM_000540.3(RYR1):c.3166G>C (p.Asp1056His)
|
rs2145447772
|
|
NM_000540.3(RYR1):c.3279_3291del (p.Val1094fs)
|
|
|
NM_000540.3(RYR1):c.3381+1G>A
|
rs797045934
|
|
NM_000540.3(RYR1):c.3494G>A (p.Gly1165Asp)
|
rs559581937
|
|
NM_000540.3(RYR1):c.3655C>T (p.Gln1219Ter)
|
|
|
NM_000540.3(RYR1):c.3727del (p.Gln1243fs)
|
|
|
NM_000540.3(RYR1):c.3772C>T (p.Arg1258Ter)
|
|
|
NM_000540.3(RYR1):c.3800C>G (p.Pro1267Arg)
|
rs150495044
|
|
NM_000540.3(RYR1):c.3801del (p.Cys1268fs)
|
|
|
NM_000540.3(RYR1):c.3801dup (p.Cys1268fs)
|
rs587784374
|
|
NM_000540.3(RYR1):c.3802del (p.Cys1268fs)
|
|
|
NM_000540.3(RYR1):c.3828G>A (p.Trp1276Ter)
|
rs2145482955
|
|
NM_000540.3(RYR1):c.3889del (p.His1297fs)
|
|
|
NM_000540.3(RYR1):c.38T>G (p.Leu13Arg)
|
rs193922744
|
|
NM_000540.3(RYR1):c.3943del (p.Gln1315fs)
|
|
|
NM_000540.3(RYR1):c.3951del (p.Ala1318fs)
|
|
|
NM_000540.3(RYR1):c.3951dup (p.Ala1318fs)
|
rs772166066
|
|
NM_000540.3(RYR1):c.3955G>T (p.Glu1319Ter)
|
|
|
NM_000540.3(RYR1):c.3964_3982dup (p.Asp1328fs)
|
rs1281542312
|
|
NM_000540.3(RYR1):c.3982_3986del (p.Pro1327_Asp1328insTer)
|
rs1555775774
|
|
NM_000540.3(RYR1):c.4065del (p.Ala1356fs)
|
|
|
NM_000540.3(RYR1):c.4082dup (p.Gln1362fs)
|
rs1600731073
|
|
NM_000540.3(RYR1):c.4083_4084delinsAT (p.Gln1362Ter)
|
rs2145484822
|
|
NM_000540.3(RYR1):c.4092_4114dup (p.Ala1372fs)
|
|
|
NM_000540.3(RYR1):c.4176del (p.Lys1393fs)
|
rs2145492068
|
|
NM_000540.3(RYR1):c.4299T>G (p.Tyr1433Ter)
|
rs765661825
|
|
NM_000540.3(RYR1):c.4319_4325del (p.Ala1440fs)
|
|
|
NM_000540.3(RYR1):c.4343G>A (p.Trp1448Ter)
|
|
|
NM_000540.3(RYR1):c.4368C>G (p.Tyr1456Ter)
|
|
|
NM_000540.3(RYR1):c.4383del (p.Met1461fs)
|
|
|
NM_000540.3(RYR1):c.4408del (p.Val1470fs)
|
|
|
NM_000540.3(RYR1):c.4430_4437del (p.Asp1477fs)
|
|
|
NM_000540.3(RYR1):c.4435C>T (p.Gln1479Ter)
|
rs1968813234
|
|
NM_000540.3(RYR1):c.4455_4459dup (p.Lys1487fs)
|
rs1568476007
|
|
NM_000540.3(RYR1):c.4459A>T (p.Lys1487Ter)
|
|
|
NM_000540.3(RYR1):c.4485_4500del (p.Val1494_Trp1495insTer)
|
rs886041511
|
|
NM_000540.3(RYR1):c.4665del (p.Thr1556fs)
|
|
|
NM_000540.3(RYR1):c.479A>G (p.Glu160Gly)
|
rs193922752
|
|
NM_000540.3(RYR1):c.4837C>T (p.Gln1613Ter)
|
rs1332371891
|
|
NM_000540.3(RYR1):c.4852_4879del (p.Arg1618fs)
|
|
|
NM_000540.3(RYR1):c.487C>T (p.Arg163Cys)
|
rs118192161
|
|
NM_000540.3(RYR1):c.5077_5078delinsG (p.Leu1693fs)
|
rs1600770908
|
|
NM_000540.3(RYR1):c.5158G>T (p.Glu1720Ter)
|
|
|
NM_000540.3(RYR1):c.5218G>T (p.Glu1740Ter)
|
rs1169938399
|
|
NM_000540.3(RYR1):c.5309C>A (p.Ser1770Ter)
|
rs398123472
|
|
NM_000540.3(RYR1):c.5333C>A (p.Ser1778Ter)
|
rs367543055
|
|
NM_000540.3(RYR1):c.5340dup (p.Cys1781fs)
|
rs1969271215
|
|
NM_000540.3(RYR1):c.5487del (p.Val1830fs)
|
rs887506743
|
|
NM_000540.3(RYR1):c.5509C>T (p.Gln1837Ter)
|
rs1249942711
|
|
NM_000540.3(RYR1):c.5749G>T (p.Glu1917Ter)
|
rs781075511
|
|
NM_000540.3(RYR1):c.5812C>T (p.Gln1938Ter)
|
|
|
NM_000540.3(RYR1):c.5908C>T (p.Gln1970Ter)
|
|
|
NM_000540.3(RYR1):c.5917C>T (p.Gln1973Ter)
|
rs2145562180
|
|
NM_000540.3(RYR1):c.5938del (p.Leu1980fs)
|
rs193922786
|
|
NM_000540.3(RYR1):c.6031C>T (p.Gln2011Ter)
|
rs1385985785
|
|
NM_000540.3(RYR1):c.6082C>T (p.Arg2028Ter)
|
rs773540275
|
|
NM_000540.3(RYR1):c.6229_6232del (p.Glu2077fs)
|
|
|
NM_000540.3(RYR1):c.6469del (p.Glu2157fs)
|
|
|
NM_000540.3(RYR1):c.6488G>A (p.Arg2163His)
|
rs118192163
|
|
NM_000540.3(RYR1):c.6502G>A (p.Val2168Met)
|
rs118192176
|
|
NM_000540.3(RYR1):c.6517C>T (p.Gln2173Ter)
|
rs1486865637
|
|
NM_000540.3(RYR1):c.6577C>T (p.Gln2193Ter)
|
|
|
NM_000540.3(RYR1):c.6612C>G (p.His2204Gln)
|
rs141646642
|
|
NM_000540.3(RYR1):c.6710G>A (p.Cys2237Tyr)
|
rs2145586397
|
|
NM_000540.3(RYR1):c.6757C>T (p.His2253Tyr)
|
rs917523269
|
|
NM_000540.3(RYR1):c.6797-6_6798del
|
|
|
NM_000540.3(RYR1):c.6806dup (p.Ser2270fs)
|
rs886041380
|
|
NM_000540.3(RYR1):c.6933dup (p.Met2312fs)
|
rs1969980104
|
|
NM_000540.3(RYR1):c.6948dup (p.Gly2317fs)
|
|
|
NM_000540.3(RYR1):c.7018T>C (p.Phe2340Leu)
|
rs1969983957
|
|
NM_000540.3(RYR1):c.7039GAG[1] (p.Glu2348del)
|
rs121918596
|
|
NM_000540.3(RYR1):c.7048G>A (p.Ala2350Thr)
|
rs193922802
|
|
NM_000540.3(RYR1):c.7060G>A (p.Val2354Met)
|
rs746971794
|
|
NM_000540.3(RYR1):c.7084G>A (p.Glu2362Lys)
|
rs762401851
|
|
NM_000540.3(RYR1):c.7089C>G (p.Cys2363Trp)
|
rs2228071
|
|
NM_000540.3(RYR1):c.7090T>G (p.Phe2364Val)
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rs193922805
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NM_000540.3(RYR1):c.70del (p.Ser24fs)
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NM_000540.3(RYR1):c.7111G>A (p.Glu2371Lys)
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rs1057518940
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NM_000540.3(RYR1):c.7112A>G (p.Glu2371Gly)
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rs2145600668
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NM_000540.3(RYR1):c.7144del (p.Glu2382fs)
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NM_000540.3(RYR1):c.7210G>T (p.Glu2404Ter)
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rs111364296
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NM_000540.3(RYR1):c.7237G>T (p.Glu2413Ter)
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rs1555783458
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NM_000540.3(RYR1):c.7291G>T (p.Asp2431Tyr)
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rs193922810
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NM_000540.3(RYR1):c.7304G>A (p.Arg2435His)
|
rs28933396
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NM_000540.3(RYR1):c.7304G>T (p.Arg2435Leu)
|
rs28933396
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NM_000540.3(RYR1):c.7308_7309del (p.Ala2437fs)
|
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NM_000540.3(RYR1):c.7324-1G>A
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rs193922814
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NM_000540.3(RYR1):c.7324-1G>T
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rs193922814
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NM_000540.3(RYR1):c.7343G>A (p.Gly2448Asp)
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rs1600824259
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NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp)
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rs118192124
|
|
NM_000540.3(RYR1):c.7358T>C (p.Ile2453Thr)
|
rs118192123
|
|
NM_000540.3(RYR1):c.735C>G (p.Tyr245Ter)
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|
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NM_000540.3(RYR1):c.7396C>T (p.Leu2466Phe)
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rs767343838
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NM_000540.3(RYR1):c.742G>A (p.Gly248Arg)
|
rs1801086
|
|
NM_000540.3(RYR1):c.742G>C (p.Gly248Arg)
|
rs1801086
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|
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys)
|
rs118192178
|
|
NM_000540.3(RYR1):c.7523G>A (p.Arg2508His)
|
rs193922818
|
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NM_000540.3(RYR1):c.7719_7768dup (p.Ser2590fs)
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|
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NM_000540.3(RYR1):c.7744_7745del (p.Met2582fs)
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rs2145614282
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NM_000540.3(RYR1):c.776G>A (p.Trp259Ter)
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|
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NM_000540.3(RYR1):c.7770dup (p.Arg2591fs)
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|
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NM_000540.3(RYR1):c.7775dup (p.Arg2593fs)
|
rs1281875506
|
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NM_000540.3(RYR1):c.7784_7791del (p.Leu2595fs)
|
rs1600832922
|
|
NM_000540.3(RYR1):c.7850C>A (p.Ser2617Ter)
|
rs780836747
|
|
NM_000540.3(RYR1):c.7879G>A (p.Val2627Met)
|
rs914804033
|
|
NM_000540.3(RYR1):c.7954dup (p.Trp2652fs)
|
rs1600842678
|
|
NM_000540.3(RYR1):c.7956del (p.Cys2651_Trp2652insTer)
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|
|
NM_000540.3(RYR1):c.7969_7970delinsA (p.Leu2657fs)
|
rs1555785090
|
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NM_000540.3(RYR1):c.7983G>A (p.Trp2661Ter)
|
|
|
NM_000540.3(RYR1):c.8136dup (p.Asp2713fs)
|
rs761483896
|
|
NM_000540.3(RYR1):c.8227del (p.Leu2743fs)
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|
|
NM_000540.3(RYR1):c.848A>G (p.His283Arg)
|
|
|
NM_000540.3(RYR1):c.8667dup (p.Lys2890fs)
|
rs1555785771
|
|
NM_000540.3(RYR1):c.867C>A (p.Tyr289Ter)
|
rs1966900746
|
|
NM_000540.3(RYR1):c.8721del (p.Tyr2908fs)
|
|
|
NM_000540.3(RYR1):c.8746A>T (p.Lys2916Ter)
|
|
|
NM_000540.3(RYR1):c.8758C>T (p.Arg2920Ter)
|
|
|
NM_000540.3(RYR1):c.8770C>T (p.Gln2924Ter)
|
|
|
NM_000540.3(RYR1):c.8773G>T (p.Glu2925Ter)
|
rs2145638522
|
|
NM_000540.3(RYR1):c.8812dup (p.Thr2938fs)
|
rs1555785906
|
|
NM_000540.3(RYR1):c.8816G>A (p.Arg2939Lys)
|
rs118192125
|
|
NM_000540.3(RYR1):c.8935_8945del (p.Ala2979fs)
|
|
|
NM_000540.3(RYR1):c.8953C>T (p.Arg2985Ter)
|
|
|
NM_000540.3(RYR1):c.9000+1G>A
|
rs111364670
|
|
NM_000540.3(RYR1):c.9001-2A>G
|
rs774119942
|
|
NM_000540.3(RYR1):c.9047A>G (p.Tyr3016Cys)
|
rs1555786853
|
|
NM_000540.3(RYR1):c.9077_9086del (p.Gly3026fs)
|
|
|
NM_000540.3(RYR1):c.9168_9169del (p.Phe3057fs)
|
rs1555787058
|
|
NM_000540.3(RYR1):c.9170_9171del (p.Phe3057fs)
|
|
|
NM_000540.3(RYR1):c.9310G>A (p.Glu3104Lys)
|
rs193922832
|
|
NM_000540.3(RYR1):c.9345del (p.Ser3116fs)
|
rs2145663047
|
|
NM_000540.3(RYR1):c.9379C>T (p.Gln3127Ter)
|
|
|
NM_000540.3(RYR1):c.9499C>T (p.Arg3167Ter)
|
rs1171637302
|
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NM_000540.3(RYR1):c.9545dup (p.Tyr3182Ter)
|
rs1970899870
|
|
NM_000540.3(RYR1):c.9554dup (p.Leu3186fs)
|
rs1970900298
|
|
NM_000540.3(RYR1):c.958G>A (p.Glu320Lys)
|
rs1568440962
|
|
NM_000540.3(RYR1):c.982C>T (p.Arg328Trp)
|
rs193922762
|
|
NM_000540.3(RYR1):c.982_983del (p.Arg328fs)
|
rs776235139
|
|
NM_000540.3(RYR1):c.9851G>A (p.Trp3284Ter)
|
rs2145682223
|
|
NM_000540.3(RYR1):c.9905dup (p.Pro3303fs)
|
rs749656679
|
|
NM_000540.3(RYR1):c.9909del (p.Cys3304fs)
|
|
|
NM_000540.3(RYR1):c.9983del (p.Gly3328fs)
|
rs2145682923
|
|