ClinVar Miner

List of variants in gene RYR1 reported as pathogenic for RYR1-Related Disorders

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Gene type:
ClinVar version:
Total variants: 448
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HGVS dbSNP gnomAD frequency
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) rs193922805
NM_000540.3(RYR1):c.70del (p.Ser24fs)
NM_000540.3(RYR1):c.7111G>A (p.Glu2371Lys) rs1057518940
NM_000540.3(RYR1):c.7112A>G (p.Glu2371Gly) rs2145600668
NM_000540.3(RYR1):c.7144del (p.Glu2382fs)
NM_000540.3(RYR1):c.7210G>T (p.Glu2404Ter) rs111364296
NM_000540.3(RYR1):c.7237G>T (p.Glu2413Ter) rs1555783458
NM_000540.3(RYR1):c.7291G>T (p.Asp2431Tyr) rs193922810
NM_000540.3(RYR1):c.7304G>A (p.Arg2435His) rs28933396
NM_000540.3(RYR1):c.7304G>T (p.Arg2435Leu) rs28933396
NM_000540.3(RYR1):c.7308_7309del (p.Ala2437fs)
NM_000540.3(RYR1):c.7324-1G>A rs193922814
NM_000540.3(RYR1):c.7324-1G>T rs193922814
NM_000540.3(RYR1):c.7343G>A (p.Gly2448Asp) rs1600824259
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp) rs118192124
NM_000540.3(RYR1):c.7358T>C (p.Ile2453Thr) rs118192123
NM_000540.3(RYR1):c.735C>G (p.Tyr245Ter)
NM_000540.3(RYR1):c.7396C>T (p.Leu2466Phe) rs767343838
NM_000540.3(RYR1):c.742G>A (p.Gly248Arg) rs1801086
NM_000540.3(RYR1):c.742G>C (p.Gly248Arg) rs1801086
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys) rs118192178
NM_000540.3(RYR1):c.7523G>A (p.Arg2508His) rs193922818
NM_000540.3(RYR1):c.7719_7768dup (p.Ser2590fs)
NM_000540.3(RYR1):c.7744_7745del (p.Met2582fs) rs2145614282
NM_000540.3(RYR1):c.776G>A (p.Trp259Ter)
NM_000540.3(RYR1):c.7770dup (p.Arg2591fs)
NM_000540.3(RYR1):c.7775dup (p.Arg2593fs) rs1281875506
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)
NM_000540.3(RYR1):c.7969_7970delinsA (p.Leu2657fs) rs1555785090
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)
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
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

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