ClinVar Miner

List of variants in gene RYR1 reported by CeGaT Center for Human Genetics Tuebingen

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 388
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.5360C>T (p.Pro1787Leu) rs34934920 0.01583
NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273 0.01228
NM_000540.3(RYR1):c.10259+7G>A rs143752962 0.00875
NM_000540.3(RYR1):c.12879G>C (p.Ala4293=) rs193922854 0.00873
NM_000540.3(RYR1):c.4055C>G (p.Ala1352Gly) rs112105381 0.00685
NM_000540.3(RYR1):c.14589C>T (p.Phe4863=) rs146072491 0.00628
NM_000540.3(RYR1):c.13502C>T (p.Pro4501Leu) rs73933023 0.00601
NM_000540.3(RYR1):c.10938-17A>G rs181147531 0.00513
NM_000540.3(RYR1):c.12881C>T (p.Thr4294Met) rs587784372 0.00471
NM_000540.3(RYR1):c.9882C>T (p.Ser3294=) rs142610625 0.00467
NM_000540.3(RYR1):c.3972G>A (p.Ala1324=) rs200451188 0.00422
NM_000540.3(RYR1):c.11941C>T (p.His3981Tyr) rs148772854 0.00409
NM_000540.3(RYR1):c.3042G>A (p.Ala1014=) rs2228074 0.00351
NM_000540.3(RYR1):c.14505G>A (p.Gly4835=) rs118126378 0.00334
NM_000540.3(RYR1):c.2415T>C (p.Pro805=) rs141881325 0.00319
NM_000540.3(RYR1):c.12956G>A (p.Arg4319Gln) rs539194350 0.00306
NM_000540.3(RYR1):c.12869C>T (p.Ala4290Val) rs755065800 0.00298
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390 0.00282
NM_000540.3(RYR1):c.4443C>T (p.Asn1481=) rs141317474 0.00246
NM_000540.3(RYR1):c.14130-8C>G rs140808099 0.00242
NM_000540.3(RYR1):c.216G>T (p.Leu72=) rs113389877 0.00227
NM_000540.3(RYR1):c.2121C>A (p.Gly707=) rs146104858 0.00208
NM_000540.3(RYR1):c.12283-7C>T rs143861818 0.00206
NM_000540.3(RYR1):c.3557-6C>T rs139849689 0.00196
NM_000540.3(RYR1):c.9353C>T (p.Ala3118Val) rs2915960 0.00188
NM_000540.3(RYR1):c.9555-9G>A rs149569999 0.00180
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00171
NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys) rs144157950 0.00165
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val) rs193922855 0.00163
NM_000540.3(RYR1):c.2919C>T (p.His973=) rs139363830 0.00140
NM_000540.3(RYR1):c.7923C>G (p.Leu2641=) rs142558977 0.00126
NM_000540.3(RYR1):c.725+6G>A rs201679831 0.00111
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339 0.00108
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605 0.00107
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895 0.00104
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His) rs146504767 0.00101
NM_000540.3(RYR1):c.7860G>A (p.Gln2620=) rs147587000 0.00081
NM_000540.3(RYR1):c.7536C>T (p.Ile2512=) rs368560744 0.00080
NM_000540.3(RYR1):c.10119G>A (p.Val3373=) rs140689610 0.00079
NM_000540.3(RYR1):c.4971C>T (p.Asp1657=) rs141107290 0.00078
NM_000540.3(RYR1):c.2545G>A (p.Asp849Asn) rs200893443 0.00074
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_000540.3(RYR1):c.5364T>G (p.Ala1788=) rs200950362 0.00073
NM_000540.3(RYR1):c.9555-7C>G rs376790946 0.00061
NM_000540.3(RYR1):c.13022C>T (p.Thr4341Met) rs752855919 0.00058
NM_000540.3(RYR1):c.2682+7G>A rs201498416 0.00058
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val) rs34390345 0.00058
NM_000540.3(RYR1):c.2091C>T (p.Ala697=) rs138704724 0.00057
NM_000540.3(RYR1):c.12880A>G (p.Thr4294Ala) rs1003914966 0.00053
NM_000540.3(RYR1):c.7830C>T (p.Leu2610=) rs140063541 0.00046
NM_000540.3(RYR1):c.9262G>A (p.Val3088Met) rs145044872 0.00046
NM_000540.3(RYR1):c.3111C>T (p.Ser1037=) rs145434723 0.00043
NM_000540.3(RYR1):c.6645C>T (p.Leu2215=) rs146617004 0.00043
NM_000540.3(RYR1):c.12852CACGGCGGC[3] (p.4285TAA[3]) rs398123469 0.00039
NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly) rs199738299 0.00038
NM_000540.3(RYR1):c.13863G>A (p.Glu4621=) rs140750876 0.00036
NM_000540.3(RYR1):c.2658C>T (p.Ile886=) rs148094797 0.00035
NM_000540.3(RYR1):c.7876C>T (p.Leu2626=) rs145446438 0.00031
NM_000540.3(RYR1):c.14091C>T (p.Asp4697=) rs138616455 0.00030
NM_000540.3(RYR1):c.2634C>T (p.His878=) rs202233201 0.00030
NM_000540.3(RYR1):c.1598G>A (p.Arg533His) rs144336148 0.00029
NM_000540.3(RYR1):c.3381C>T (p.Arg1127=) rs200780880 0.00029
NM_000540.3(RYR1):c.5235G>A (p.Thr1745=) rs149471411 0.00029
NM_000540.3(RYR1):c.2383C>T (p.Arg795Cys) rs547608972 0.00026
NM_000540.3(RYR1):c.4115C>T (p.Ala1372Val) rs370966353 0.00026
NM_000540.3(RYR1):c.7026C>T (p.Asn2342=) rs202061237 0.00024
NM_000540.3(RYR1):c.4878C>G (p.Ala1626=) rs369466056 0.00022
NM_000540.3(RYR1):c.5000G>A (p.Arg1667His) rs138978909 0.00022
NM_000540.3(RYR1):c.6639C>T (p.Asn2213=) rs374630822 0.00022
NM_000540.3(RYR1):c.2160C>G (p.Leu720=) rs200914778 0.00019
NM_000540.3(RYR1):c.2320G>A (p.Gly774Arg) rs147918857 0.00019
NM_000540.3(RYR1):c.7141G>A (p.Glu2381Lys) rs148426762 0.00019
NM_000540.3(RYR1):c.7797G>A (p.Gln2599=) rs151309597 0.00019
NM_000540.3(RYR1):c.4294-4C>T rs368108496 0.00018
NM_000540.3(RYR1):c.4911G>A (p.Ala1637=) rs370350821 0.00018
NM_000540.3(RYR1):c.2904G>A (p.Pro968=) rs146651758 0.00017
NM_000540.3(RYR1):c.7836-7C>T rs370713261 0.00017
NM_000540.3(RYR1):c.2319C>T (p.Asp773=) rs374924686 0.00016
NM_000540.3(RYR1):c.9796A>C (p.Met3266Leu) rs201588259 0.00016
NM_000540.3(RYR1):c.10048C>A (p.Arg3350=) rs200355885 0.00014
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp) rs147320363 0.00014
NM_000540.3(RYR1):c.7362C>T (p.Arg2454=) rs369428665 0.00014
NM_000540.3(RYR1):c.14270G>A (p.Arg4757His) rs768360593 0.00013
NM_000540.3(RYR1):c.2654G>A (p.Arg885His) rs370634440 0.00013
NM_000540.3(RYR1):c.9152G>A (p.Arg3051His) rs147303895 0.00013
NM_000540.3(RYR1):c.9555G>C (p.Lys3185Asn) rs201080180 0.00013
NM_000540.3(RYR1):c.10281G>A (p.Pro3427=) rs549379396 0.00011
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met) rs193922879 0.00011
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) rs118192172 0.00011
NM_000540.3(RYR1):c.8073C>T (p.Tyr2691=) rs202160739 0.00011
NM_000540.3(RYR1):c.10348-6C>G rs193922837 0.00010
NM_000540.3(RYR1):c.11691T>C (p.Asp3897=) rs201588544 0.00010
NM_000540.3(RYR1):c.418G>A (p.Ala140Thr) rs142474192 0.00010
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266 0.00010
NM_000540.3(RYR1):c.15084T>C (p.Cys5028=) rs758735802 0.00009
NM_000540.3(RYR1):c.13927G>A (p.Ala4643Thr) rs200286252 0.00008
NM_000540.3(RYR1):c.2488C>T (p.Arg830Trp) rs142548565 0.00008
NM_000540.3(RYR1):c.2712G>A (p.Pro904=) rs139339574 0.00008
NM_000540.3(RYR1):c.4848G>A (p.Thr1616=) rs377664365 0.00008
NM_000540.3(RYR1):c.9093C>T (p.Ala3031=) rs140197877 0.00008
NM_000540.3(RYR1):c.1800C>T (p.Asp600=) rs374489703 0.00007
NM_000540.3(RYR1):c.2681C>T (p.Pro894Leu) rs758631999 0.00007
NM_000540.3(RYR1):c.5637C>T (p.Asp1879=) rs143418190 0.00007
NM_000540.3(RYR1):c.10219G>A (p.Ala3407Thr) rs143533100 0.00006
NM_000540.3(RYR1):c.10440+7G>A rs750987143 0.00006
NM_000540.3(RYR1):c.13350G>A (p.Gly4450=) rs748743312 0.00006
NM_000540.3(RYR1):c.14451C>T (p.Ile4817=) rs200442804 0.00006
NM_000540.3(RYR1):c.2356G>A (p.Val786Ile) rs369281291 0.00006
NM_000540.3(RYR1):c.3619G>A (p.Val1207Met) rs760235443 0.00006
NM_000540.3(RYR1):c.3951C>T (p.Pro1317=) rs745447236 0.00006
NM_000540.3(RYR1):c.6302T>A (p.Met2101Lys) rs746818096 0.00006
NM_000540.3(RYR1):c.6796G>C (p.Gly2266Arg) rs772803714 0.00006
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593 0.00006
NM_000540.3(RYR1):c.7336G>A (p.Gly2446Ser) rs375148516 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.1956G>A (p.Ala652=) rs202105428 0.00005
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp) rs118192173 0.00005
NM_000540.3(RYR1):c.3379C>T (p.Arg1127Cys) rs753701890 0.00005
NM_000540.3(RYR1):c.4306G>A (p.Val1436Met) rs200289457 0.00005
NM_000540.3(RYR1):c.4931A>G (p.Asn1644Ser) rs1057519109 0.00005
NM_000540.3(RYR1):c.9348G>A (p.Ser3116=) rs763655831 0.00005
NM_000540.3(RYR1):c.9456C>T (p.Phe3152=) rs369206584 0.00005
NM_000540.3(RYR1):c.10505G>A (p.Arg3502Gln) rs369422480 0.00004
NM_000540.3(RYR1):c.10917G>A (p.Thr3639=) rs371952058 0.00004
NM_000540.3(RYR1):c.1250T>C (p.Leu417Pro) rs764262446 0.00004
NM_000540.3(RYR1):c.13015G>C (p.Ala4339Pro) rs1064797241 0.00004
NM_000540.3(RYR1):c.14538G>C (p.Ala4846=) rs763954439 0.00004
NM_000540.3(RYR1):c.14700C>T (p.Asp4900=) rs759063883 0.00004
NM_000540.3(RYR1):c.14912C>T (p.Thr4971Met) rs779835717 0.00004
NM_000540.3(RYR1):c.1735G>A (p.Glu579Lys) rs753907367 0.00004
NM_000540.3(RYR1):c.1952G>A (p.Arg651Gln) rs567997185 0.00004
NM_000540.3(RYR1):c.4108G>A (p.Ala1370Thr) rs766147636 0.00004
NM_000540.3(RYR1):c.4217C>T (p.Thr1406Met) rs187496208 0.00004
NM_000540.3(RYR1):c.4852C>T (p.Arg1618Cys) rs924891897 0.00004
NM_000540.3(RYR1):c.5064A>T (p.Val1688=) rs373673924 0.00004
NM_000540.3(RYR1):c.5340_5341del (p.Cys1781fs) rs779723153 0.00004
NM_000540.3(RYR1):c.5638G>A (p.Glu1880Lys) rs777733662 0.00004
NM_000540.3(RYR1):c.6444C>T (p.Ser2148=) rs200381338 0.00004
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) rs118192177 0.00004
NM_000540.3(RYR1):c.7653C>T (p.Asn2551=) rs201166038 0.00004
NM_000540.3(RYR1):c.8142T>C (p.Tyr2714=) rs567352621 0.00004
NM_000540.3(RYR1):c.8277G>A (p.Ala2759=) rs375159951 0.00004
NM_000540.3(RYR1):c.10293G>A (p.Ala3431=) rs750009828 0.00003
NM_000540.3(RYR1):c.10578G>A (p.Ala3526=) rs368360689 0.00003
NM_000540.3(RYR1):c.10619A>T (p.Tyr3540Phe) rs752477271 0.00003
NM_000540.3(RYR1):c.1099C>T (p.Arg367Trp) rs140037232 0.00003
NM_000540.3(RYR1):c.13197G>T (p.Pro4399=) rs773923211 0.00003
NM_000540.3(RYR1):c.13207G>A (p.Ala4403Thr) rs1051206491 0.00003
NM_000540.3(RYR1):c.13505A>G (p.Glu4502Gly) rs139647387 0.00003
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148 0.00003
NM_000540.3(RYR1):c.159C>T (p.Asn53=) rs780591516 0.00003
NM_000540.3(RYR1):c.2390G>A (p.Gly797Asp) rs896357123 0.00003
NM_000540.3(RYR1):c.2450G>A (p.Arg817Gln) rs759902314 0.00003
NM_000540.3(RYR1):c.2995C>T (p.Arg999Cys) rs150442096 0.00003
NM_000540.3(RYR1):c.417C>T (p.Asp139=) rs140004993 0.00003
NM_000540.3(RYR1):c.546G>A (p.Ser182=) rs372660267 0.00003
NM_000540.3(RYR1):c.6352C>T (p.Arg2118Trp) rs148660840 0.00003
NM_000540.3(RYR1):c.6813G>A (p.Thr2271=) rs147786842 0.00003
NM_000540.3(RYR1):c.7244G>A (p.Arg2415Gln) rs201584482 0.00003
NM_000540.3(RYR1):c.7781C>T (p.Ser2594Leu) rs749564145 0.00003
NM_000540.3(RYR1):c.7836G>A (p.Arg2612=) rs755128540 0.00003
NM_000540.3(RYR1):c.8112C>T (p.Cys2704=) rs763722972 0.00003
NM_000540.3(RYR1):c.9612G>A (p.Ala3204=) rs748122408 0.00003
NM_000540.3(RYR1):c.9991G>A (p.Glu3331Lys) rs754426488 0.00003
NM_000540.3(RYR1):c.10230G>A (p.Pro3410=) rs774663618 0.00002
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp) rs763112609 0.00002
NM_000540.3(RYR1):c.115G>A (p.Glu39Lys) rs539201276 0.00002
NM_000540.3(RYR1):c.1201C>T (p.Arg401Cys) rs193922764 0.00002
NM_000540.3(RYR1):c.1264G>A (p.Gly422Arg) rs757157750 0.00002
NM_000540.3(RYR1):c.13180G>A (p.Glu4394Lys) rs748844266 0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_000540.3(RYR1):c.2528G>A (p.Arg843His) rs144911352 0.00002
NM_000540.3(RYR1):c.3093G>A (p.Lys1031=) rs748021486 0.00002
NM_000540.3(RYR1):c.3252C>T (p.Ser1084=) rs144164620 0.00002
NM_000540.3(RYR1):c.3522C>T (p.Ser1174=) rs559858324 0.00002
NM_000540.3(RYR1):c.3891C>T (p.His1297=) rs371462309 0.00002
NM_000540.3(RYR1):c.4710C>T (p.Asn1570=) rs763113534 0.00002
NM_000540.3(RYR1):c.4980C>T (p.Arg1660=) rs374115286 0.00002
NM_000540.3(RYR1):c.569T>C (p.Val190Ala) rs752090652 0.00002
NM_000540.3(RYR1):c.6469G>A (p.Glu2157Lys) rs554066182 0.00002
NM_000540.3(RYR1):c.7027+4A>T rs753538619 0.00002
NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp) rs193922803 0.00002
NM_000540.3(RYR1):c.7434C>G (p.Thr2478=) rs747434152 0.00002
NM_000540.3(RYR1):c.7488G>A (p.Pro2496=) rs375997435 0.00002
NM_000540.3(RYR1):c.9587G>A (p.Arg3196His) rs1064797240 0.00002
NM_000540.3(RYR1):c.10023C>T (p.Phe3341=) rs753154402 0.00001
NM_000540.3(RYR1):c.10049G>A (p.Arg3350Gln) rs538500669 0.00001
NM_000540.3(RYR1):c.10052C>T (p.Pro3351Leu) rs970909296 0.00001
NM_000540.3(RYR1):c.1020C>T (p.Tyr340=) rs778349211 0.00001
NM_000540.3(RYR1):c.10530C>T (p.Ile3510=) rs760656697 0.00001
NM_000540.3(RYR1):c.10760A>G (p.Asp3587Gly) rs778763130 0.00001
NM_000540.3(RYR1):c.11260-5C>T rs747319417 0.00001
NM_000540.3(RYR1):c.12108C>T (p.Asn4036=) rs189263702 0.00001
NM_000540.3(RYR1):c.12603C>T (p.Arg4201=) rs1273187654 0.00001
NM_000540.3(RYR1):c.12625-8C>T rs778720628 0.00001
NM_000540.3(RYR1):c.13062G>A (p.Ala4354=) rs1285864293 0.00001
NM_000540.3(RYR1):c.131G>A (p.Arg44His) rs139161723 0.00001
NM_000540.3(RYR1):c.13512C>T (p.Ala4504=) rs376229195 0.00001
NM_000540.3(RYR1):c.13740T>C (p.Phe4580=) rs1396114452 0.00001
NM_000540.3(RYR1):c.13747-4T>G rs1287127447 0.00001
NM_000540.3(RYR1):c.14204G>A (p.Arg4735Gln) rs754190031 0.00001
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile) rs118192168 0.00001
NM_000540.3(RYR1):c.14628G>A (p.Lys4876=) rs1395234830 0.00001
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr) rs118192158 0.00001
NM_000540.3(RYR1):c.14913G>A (p.Thr4971=) rs376180682 0.00001
NM_000540.3(RYR1):c.14940G>A (p.Thr4980=) rs765570755 0.00001
NM_000540.3(RYR1):c.15014C>T (p.Thr5005Met) rs763710371 0.00001
NM_000540.3(RYR1):c.1655G>A (p.Arg552Gln) rs772978260 0.00001
NM_000540.3(RYR1):c.178G>A (p.Asp60Asn) rs118192160 0.00001
NM_000540.3(RYR1):c.1931G>A (p.Arg644His) rs766150328 0.00001
NM_000540.3(RYR1):c.2688G>A (p.Arg896=) rs756136148 0.00001
NM_000540.3(RYR1):c.3218T>C (p.Ile1073Thr) rs769763365 0.00001
NM_000540.3(RYR1):c.408G>A (p.Leu136=) rs756918282 0.00001
NM_000540.3(RYR1):c.4578G>A (p.Met1526Ile) rs769254362 0.00001
NM_000540.3(RYR1):c.4775C>T (p.Pro1592Leu) rs193922777 0.00001
NM_000540.3(RYR1):c.4782G>A (p.Leu1594=) rs1064797239 0.00001
NM_000540.3(RYR1):c.5019C>T (p.Cys1673=) rs543026464 0.00001
NM_000540.3(RYR1):c.529C>T (p.Arg177Cys) rs193922757 0.00001
NM_000540.3(RYR1):c.5986C>T (p.Arg1996Cys) rs1029641002 0.00001
NM_000540.3(RYR1):c.6016-5C>G rs369996114 0.00001
NM_000540.3(RYR1):c.631+1G>T rs374937694 0.00001
NM_000540.3(RYR1):c.6311G>A (p.Arg2104His) rs745319881 0.00001
NM_000540.3(RYR1):c.6330C>T (p.Phe2110=) rs990514054 0.00001
NM_000540.3(RYR1):c.6487C>T (p.Arg2163Cys) rs118192175 0.00001
NM_000540.3(RYR1):c.668A>G (p.His223Arg) rs766836202 0.00001
NM_000540.3(RYR1):c.6790G>A (p.Gly2264Ser) rs1372408402 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.7483G>A (p.Val2495Met) rs200291321 0.00001
NM_000540.3(RYR1):c.7599C>T (p.Ala2533=) rs770552982 0.00001
NM_000540.3(RYR1):c.7709C>T (p.Ala2570Val) rs544312224 0.00001
NM_000540.3(RYR1):c.798C>T (p.Ile266=) rs764527957 0.00001
NM_000540.3(RYR1):c.8026C>T (p.Arg2676Trp) rs193922826 0.00001
NM_000540.3(RYR1):c.8078C>T (p.Pro2693Leu) rs568662364 0.00001
NM_000540.3(RYR1):c.8699G>C (p.Gly2900Ala) rs750366916 0.00001
NM_000540.3(RYR1):c.8802C>T (p.Gly2934=) rs1568514231 0.00001
NM_000540.3(RYR1):c.8841C>T (p.Asp2947=) rs200982346 0.00001
NM_000540.3(RYR1):c.9122+7C>T rs199667629 0.00001
NM_000540.3(RYR1):c.929C>T (p.Ala310Val) rs966781989 0.00001
NM_000540.3(RYR1):c.1001G>A (p.Gly334Asp)
NM_000540.3(RYR1):c.10023C>G (p.Phe3341Leu) rs753154402
NM_000540.3(RYR1):c.1008T>G (p.Pro336=) rs1600656795
NM_000540.3(RYR1):c.10096C>A (p.Arg3366Ser) rs561638083
NM_000540.3(RYR1):c.10180G>T (p.Val3394Leu) rs1600898457
NM_000540.3(RYR1):c.10263G>C (p.Ala3421=) rs778171066
NM_000540.3(RYR1):c.10501G>T (p.Asp3501Tyr) rs763259167
NM_000540.3(RYR1):c.10501dup (p.Asp3501fs) rs1568537774
NM_000540.3(RYR1):c.10590A>C (p.Gln3530His)
NM_000540.3(RYR1):c.10623C>T (p.Ala3541=)
NM_000540.3(RYR1):c.10689C>T (p.Val3563=)
NM_000540.3(RYR1):c.10750G>A (p.Glu3584Lys) rs1600930723
NM_000540.3(RYR1):c.11049GGA[4] (p.Glu3689del) rs760784102
NM_000540.3(RYR1):c.11229A>C (p.Glu3743Asp)
NM_000540.3(RYR1):c.11305C>T (p.Leu3769=)
NM_000540.3(RYR1):c.11315G>T (p.Arg3772Leu) rs193922839
NM_000540.3(RYR1):c.1131G>A (p.Leu377=) rs1555766901
NM_000540.3(RYR1):c.11369G>T (p.Gly3790Val)
NM_000540.3(RYR1):c.11541G>A (p.Glu3847=) rs1386408853
NM_000540.3(RYR1):c.11646C>T (p.Asp3882=)
NM_000540.3(RYR1):c.116A>G (p.Glu39Gly) rs1600630863
NM_000540.3(RYR1):c.11829A>G (p.Glu3943=)
NM_000540.3(RYR1):c.12033G>A (p.Leu4011=) rs1972429720
NM_000540.3(RYR1):c.12110del (p.Gly4037fs) rs1555795308
NM_000540.3(RYR1):c.12550G>T (p.Gly4184Cys) rs1973131361
NM_000540.3(RYR1):c.1274G>C (p.Arg425Pro)
NM_000540.3(RYR1):c.12791G>A (p.Gly4264Asp) rs949615251
NM_000540.3(RYR1):c.12803_12817dup (p.Ala4272_Glu4273insAlaGluAlaGlyAla)
NM_000540.3(RYR1):c.12852CACGGCGGC[1] (p.4285TAA[1]) rs398123469
NM_000540.3(RYR1):c.12863CGG[2] (p.Ala4290_Ala4291del) rs1228854800
NM_000540.3(RYR1):c.12876G>C (p.Gly4292=) rs1973343918
NM_000540.3(RYR1):c.12901G>A (p.Ala4301Thr) rs1599634913
NM_000540.3(RYR1):c.12951GCGGCGGCT[3] (p.4318RRL[3]) rs193922846
NM_000540.3(RYR1):c.12971C>G (p.Thr4324Arg)
NM_000540.3(RYR1):c.1300G>A (p.Ala434Thr)
NM_000540.3(RYR1):c.13013_13032del (p.Ala4338fs) rs193922856
NM_000540.3(RYR1):c.13027G>A (p.Ala4343Thr) rs1204041410
NM_000540.3(RYR1):c.1311C>T (p.Ile437=) rs777029846
NM_000540.3(RYR1):c.13153G>T (p.Asp4385Tyr) rs1227202568
NM_000540.3(RYR1):c.13356C>G (p.Gly4452=) rs1228185652
NM_000540.3(RYR1):c.13388C>T (p.Ala4463Val) rs1350916629
NM_000540.3(RYR1):c.13424A>G (p.Lys4475Arg)
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.3(RYR1):c.13565C>G (p.Pro4522Arg) rs145167688
NM_000540.3(RYR1):c.1384G>A (p.Glu462Lys) rs199592055
NM_000540.3(RYR1):c.13924C>T (p.Pro4642Ser)
NM_000540.3(RYR1):c.1408C>T (p.Leu470=)
NM_000540.3(RYR1):c.14130-19TC[5] rs750824483
NM_000540.3(RYR1):c.14282C>T (p.Pro4761Leu) rs373919284
NM_000540.3(RYR1):c.14364+1G>A rs1974046221
NM_000540.3(RYR1):c.14365-6C>T rs1064797242
NM_000540.3(RYR1):c.14378T>G (p.Leu4793Arg) rs118192179
NM_000540.3(RYR1):c.14421CTT[2] (p.Phe4810del) rs1555803810
NM_000540.3(RYR1):c.14487C>T (p.Ser4829=)
NM_000540.3(RYR1):c.14579T>C (p.Phe4860Ser) rs1599665128
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His) rs63749869
NM_000540.3(RYR1):c.14642T>C (p.Met4881Thr) rs1568605367
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del) rs1064794572
NM_000540.3(RYR1):c.14779G>A (p.Val4927Ile)
NM_000540.3(RYR1):c.14803+5G>C rs1599674587
NM_000540.3(RYR1):c.14812A>G (p.Ile4938Val) rs1599676533
NM_000540.3(RYR1):c.14963A>G (p.Asn4988Ser) rs2145918298
NM_000540.3(RYR1):c.15030T>A (p.Tyr5010Ter) rs1064797243
NM_000540.3(RYR1):c.1588C>T (p.Arg530Cys) rs757399861
NM_000540.3(RYR1):c.1609G>A (p.Ala537Thr) rs774229699
NM_000540.3(RYR1):c.1654C>T (p.Arg552Trp) rs193922770
NM_000540.3(RYR1):c.1855C>G (p.Leu619Val) rs1057519184
NM_000540.3(RYR1):c.199G>T (p.Val67Phe)
NM_000540.3(RYR1):c.2186T>C (p.Val729Ala)
NM_000540.3(RYR1):c.2214C>G (p.Ala738=) rs772739422
NM_000540.3(RYR1):c.2683-4C>A rs1009407504
NM_000540.3(RYR1):c.2787G>A (p.Lys929=)
NM_000540.3(RYR1):c.3057_3071del (p.Val1021_Leu1025del) rs1600711151
NM_000540.3(RYR1):c.3343G>C (p.Gly1115Arg) rs775927793
NM_000540.3(RYR1):c.3420C>G (p.Arg1140=) rs201599911
NM_000540.3(RYR1):c.3498G>C (p.Glu1166Asp) rs546323484
NM_000540.3(RYR1):c.364A>C (p.Thr122Pro) rs1555763388
NM_000540.3(RYR1):c.3702C>T (p.Thr1234=) rs1600720232
NM_000540.3(RYR1):c.3924G>T (p.Pro1308=)
NM_000540.3(RYR1):c.4065C>T (p.Gly1355=)
NM_000540.3(RYR1):c.4204C>G (p.Pro1402Ala)
NM_000540.3(RYR1):c.4215C>T (p.Pro1405=) rs752410805
NM_000540.3(RYR1):c.4269C>T (p.Pro1423=) rs2229141
NM_000540.3(RYR1):c.4363del (p.Asp1455fs) rs1555777086
NM_000540.3(RYR1):c.447G>A (p.Met149Ile) rs772652844
NM_000540.3(RYR1):c.4680C>T (p.Val1560=) rs1286297212
NM_000540.3(RYR1):c.4728C>T (p.Ala1576=)
NM_000540.3(RYR1):c.4915C>T (p.His1639Tyr) rs1969121916
NM_000540.3(RYR1):c.4949T>C (p.Leu1650Pro)
NM_000540.3(RYR1):c.4988C>G (p.Ser1663Trp)
NM_000540.3(RYR1):c.5309C>T (p.Ser1770Leu) rs398123472
NM_000540.3(RYR1):c.5334G>A (p.Ser1778=) rs35566549
NM_000540.3(RYR1):c.5347G>T (p.Val1783Leu)
NM_000540.3(RYR1):c.5352C>T (p.Ala1784=) rs373382967
NM_000540.3(RYR1):c.5465G>A (p.Gly1822Asp)
NM_000540.3(RYR1):c.5529G>T (p.Lys1843Asn)
NM_000540.3(RYR1):c.561G>A (p.Glu187=) rs1016333794
NM_000540.3(RYR1):c.5665GAG[2] (p.Glu1891del) rs559371263
NM_000540.3(RYR1):c.5814+1G>A rs1057519173
NM_000540.3(RYR1):c.6023T>C (p.Met2008Thr) rs199947661
NM_000540.3(RYR1):c.6138A>G (p.Leu2046=) rs551228795
NM_000540.3(RYR1):c.6264G>A (p.Glu2088=)
NM_000540.3(RYR1):c.6391C>T (p.Leu2131=)
NM_000540.3(RYR1):c.6408T>C (p.Arg2136=)
NM_000540.3(RYR1):c.6664-5C>G rs867630021
NM_000540.3(RYR1):c.6664-8T>A
NM_000540.3(RYR1):c.6730C>A (p.Arg2244=)
NM_000540.3(RYR1):c.6933dup (p.Met2312fs) rs1969980104
NM_000540.3(RYR1):c.7124G>A (p.Gly2375Glu) rs193922807
NM_000540.3(RYR1):c.7261G>C (p.Ala2421Pro) rs193922808
NM_000540.3(RYR1):c.7275C>T (p.Phe2425=)
NM_000540.3(RYR1):c.7298T>C (p.Leu2433Pro) rs1600822174
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp) rs118192124
NM_000540.3(RYR1):c.7355G>A (p.Arg2452Gln) rs193922815
NM_000540.3(RYR1):c.7420C>G (p.Leu2474Val)
NM_000540.3(RYR1):c.742G>C (p.Gly248Arg) rs1801086
NM_000540.3(RYR1):c.7444+5A>G rs775251569
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys) rs118192178
NM_000540.3(RYR1):c.7584C>G (p.Pro2528=) rs1465698
NM_000540.3(RYR1):c.7636A>G (p.Met2546Val)
NM_000540.3(RYR1):c.7647G>A (p.Ala2549=) rs547811862
NM_000540.3(RYR1):c.7696G>A (p.Ala2566Thr)
NM_000540.3(RYR1):c.7775dup (p.Arg2593fs) rs1281875506
NM_000540.3(RYR1):c.7835+4_7835+5insGGCGG
NM_000540.3(RYR1):c.7836-6C>T rs780269941
NM_000540.3(RYR1):c.7879G>A (p.Val2627Met) rs914804033
NM_000540.3(RYR1):c.7948C>T (p.Arg2650Cys) rs1970336071
NM_000540.3(RYR1):c.8201A>G (p.Asn2734Ser)
NM_000540.3(RYR1):c.8733C>T (p.Leu2911=) rs200427576
NM_000540.3(RYR1):c.8932+4C>T
NM_000540.3(RYR1):c.8977C>A (p.Gln2993Lys)
NM_000540.3(RYR1):c.897G>A (p.Val299=) rs76854339
NM_000540.3(RYR1):c.9233+6del rs757394018
NM_000540.3(RYR1):c.9393C>T (p.Tyr3131=) rs753354701
NM_000540.3(RYR1):c.9476A>G (p.Asp3159Gly) rs879074444
NM_000540.3(RYR1):c.9585C>T (p.Ala3195=) rs1970955862
NM_000540.3(RYR1):c.9651C>T (p.Ser3217=) rs370457617
NM_000540.3(RYR1):c.9708G>A (p.Val3236=)
NM_000540.3(RYR1):c.9718T>C (p.Cys3240Arg) rs979989952
NM_000540.3(RYR1):c.9777A>G (p.Ser3259=) rs1600890512
NM_000540.3(RYR1):c.9789C>T (p.Tyr3263=) rs372613003
NM_000540.3(RYR1):c.9831A>G (p.Leu3277=) rs1396803935
NM_000540.3(RYR1):c.9852G>A (p.Trp3284Ter)
NM_000540.3(RYR1):c.9901C>A (p.Pro3301Thr)
NM_000540.3(RYR1):c.9969C>T (p.Ile3323=) rs763503192

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