ClinVar Miner

List of variants in gene RYR1 reported as uncertain significance by PreventionGenetics, part of Exact Sciences

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Gene type:
ClinVar version:
Total variants: 403
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.12956G>A (p.Arg4319Gln) rs539194350 0.00306
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00171
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val) rs193922855 0.00163
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.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_000540.3(RYR1):c.11321C>T (p.Ala3774Val) rs146361173 0.00061
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val) rs34390345 0.00058
NM_000540.3(RYR1):c.12880A>G (p.Thr4294Ala) rs1003914966 0.00053
NM_000540.3(RYR1):c.13999-19G>A rs775494152 0.00050
NM_000540.3(RYR1):c.9262G>A (p.Val3088Met) rs145044872 0.00046
NM_000540.3(RYR1):c.8671A>C (p.Lys2891Gln) rs146793133 0.00042
NM_000540.3(RYR1):c.12842G>A (p.Gly4281Glu) rs754173025 0.00039
NM_000540.3(RYR1):c.12553G>A (p.Ala4185Thr) rs151119428 0.00037
NM_000540.3(RYR1):c.12886C>T (p.Arg4296Trp) rs995399684 0.00035
NM_000540.3(RYR1):c.1598G>A (p.Arg533His) rs144336148 0.00029
NM_000540.3(RYR1):c.4115C>T (p.Ala1372Val) rs370966353 0.00026
NM_000540.3(RYR1):c.7102C>G (p.Leu2368Val) rs139498212 0.00026
NM_000540.3(RYR1):c.5000G>A (p.Arg1667His) rs138978909 0.00022
NM_000540.3(RYR1):c.2320G>A (p.Gly774Arg) rs147918857 0.00019
NM_000540.3(RYR1):c.2933C>T (p.Pro978Leu) rs200124278 0.00019
NM_000540.3(RYR1):c.7141G>A (p.Glu2381Lys) rs148426762 0.00019
NM_000540.3(RYR1):c.89A>T (p.Glu30Val) rs145771708 0.00019
NM_000540.3(RYR1):c.4292C>T (p.Thr1431Met) rs191656849 0.00018
NM_000540.3(RYR1):c.4237G>A (p.Asp1413Asn) rs139142846 0.00016
NM_000540.3(RYR1):c.6654C>T (p.Gly2218=) rs149185729 0.00016
NM_000540.3(RYR1):c.2531G>A (p.Cys844Tyr) rs146754847 0.00015
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp) rs147320363 0.00014
NM_000540.3(RYR1):c.3095G>A (p.Arg1032His) rs141942845 0.00014
NM_000540.3(RYR1):c.641C>T (p.Thr214Met) rs727504129 0.00014
NM_000540.3(RYR1):c.14270G>A (p.Arg4757His) rs768360593 0.00013
NM_000540.3(RYR1):c.2687G>A (p.Arg896Gln) rs147515913 0.00013
NM_000540.3(RYR1):c.5548-19C>G rs375020048 0.00013
NM_000540.3(RYR1):c.6251G>A (p.Arg2084Gln) rs143681974 0.00013
NM_000540.3(RYR1):c.9152G>A (p.Arg3051His) rs147303895 0.00013
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met) rs193922879 0.00011
NM_000540.3(RYR1):c.5479C>T (p.Arg1827Cys) rs746110626 0.00011
NM_000540.3(RYR1):c.418G>A (p.Ala140Thr) rs142474192 0.00010
NM_000540.3(RYR1):c.7433C>A (p.Thr2478Asn) rs141298868 0.00010
NM_000540.3(RYR1):c.10042C>T (p.Arg3348Cys) rs118204421 0.00009
NM_000540.3(RYR1):c.9063G>A (p.Pro3021=) rs200068725 0.00009
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp) rs536304635 0.00008
NM_000540.3(RYR1):c.2488C>T (p.Arg830Trp) rs142548565 0.00008
NM_000540.3(RYR1):c.4747C>T (p.Arg1583Cys) rs754476250 0.00008
NM_000540.3(RYR1):c.1286C>T (p.Pro429Leu) rs201054455 0.00007
NM_000540.3(RYR1):c.13603G>A (p.Glu4535Lys) rs141444745 0.00007
NM_000540.3(RYR1):c.2681C>T (p.Pro894Leu) rs758631999 0.00007
NM_000540.3(RYR1):c.3495C>T (p.Gly1165=) rs772616442 0.00007
NM_000540.3(RYR1):c.10219G>A (p.Ala3407Thr) rs143533100 0.00006
NM_000540.3(RYR1):c.1172G>A (p.Arg391His) rs769387053 0.00006
NM_000540.3(RYR1):c.2603G>A (p.Arg868His) rs750938678 0.00006
NM_000540.3(RYR1):c.3389G>A (p.Arg1130His) rs371498385 0.00006
NM_000540.3(RYR1):c.4038C>A (p.Asn1346Lys) rs777049924 0.00006
NM_000540.3(RYR1):c.6302T>A (p.Met2101Lys) rs746818096 0.00006
NM_000540.3(RYR1):c.7229C>T (p.Pro2410Leu) rs145787667 0.00006
NM_000540.3(RYR1):c.8959G>C (p.Glu2987Gln) rs368065870 0.00006
NM_000540.3(RYR1):c.9758T>C (p.Ile3253Thr) rs375626634 0.00006
NM_000540.3(RYR1):c.10359C>T (p.Arg3453=) rs376830015 0.00005
NM_000540.3(RYR1):c.2996G>A (p.Arg999His) rs180714609 0.00005
NM_000540.3(RYR1):c.3352G>A (p.Glu1118Lys) rs578234912 0.00005
NM_000540.3(RYR1):c.3442G>A (p.Val1148Ile) rs201174268 0.00005
NM_000540.3(RYR1):c.4236C>G (p.His1412Gln) rs146206507 0.00005
NM_000540.3(RYR1):c.4306G>A (p.Val1436Met) rs200289457 0.00005
NM_000540.3(RYR1):c.4931A>G (p.Asn1644Ser) rs1057519109 0.00005
NM_000540.3(RYR1):c.6418C>T (p.Arg2140Trp) rs750275456 0.00005
NM_000540.3(RYR1):c.767G>A (p.Arg256His) rs772767943 0.00005
NM_000540.3(RYR1):c.7844G>A (p.Arg2615His) rs145183043 0.00005
NM_000540.3(RYR1):c.10505G>A (p.Arg3502Gln) rs369422480 0.00004
NM_000540.3(RYR1):c.11557G>A (p.Glu3853Lys) rs145087576 0.00004
NM_000540.3(RYR1):c.12210T>G (p.Ile4070Met) rs765758001 0.00004
NM_000540.3(RYR1):c.13498G>A (p.Glu4500Lys) rs752192756 0.00004
NM_000540.3(RYR1):c.13760C>T (p.Pro4587Leu) rs143520367 0.00004
NM_000540.3(RYR1):c.13934G>A (p.Arg4645Gln) rs193922860 0.00004
NM_000540.3(RYR1):c.14468C>T (p.Thr4823Met) rs148540135 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.1955C>T (p.Ala652Val) rs757908433 0.00004
NM_000540.3(RYR1):c.251C>T (p.Thr84Met) rs186983396 0.00004
NM_000540.3(RYR1):c.3209G>A (p.Arg1070Gln) rs777962787 0.00004
NM_000540.3(RYR1):c.4217C>T (p.Thr1406Met) rs187496208 0.00004
NM_000540.3(RYR1):c.4270G>A (p.Glu1424Lys) rs543630280 0.00004
NM_000540.3(RYR1):c.4361C>T (p.Pro1454Leu) rs149737658 0.00004
NM_000540.3(RYR1):c.4519C>T (p.Arg1507Trp) rs752736122 0.00004
NM_000540.3(RYR1):c.872C>T (p.Ala291Val) rs200572262 0.00004
NM_000540.3(RYR1):c.9640A>G (p.Asn3214Asp) rs377541724 0.00004
NM_000540.3(RYR1):c.9818C>T (p.Thr3273Met) rs371744890 0.00004
NM_000540.3(RYR1):c.9859C>T (p.Arg3287Cys) rs201276068 0.00004
NM_000540.3(RYR1):c.10229C>T (p.Pro3410Leu) rs769196275 0.00003
NM_000540.3(RYR1):c.10262C>T (p.Ala3421Val) rs772280687 0.00003
NM_000540.3(RYR1):c.10619A>T (p.Tyr3540Phe) rs752477271 0.00003
NM_000540.3(RYR1):c.12335C>T (p.Ser4112Leu) rs193922847 0.00003
NM_000540.3(RYR1):c.12679G>T (p.Ala4227Ser) rs969949769 0.00003
NM_000540.3(RYR1):c.13271A>C (p.Glu4424Ala) rs752665367 0.00003
NM_000540.3(RYR1):c.13369A>T (p.Met4457Leu) rs867851900 0.00003
NM_000540.3(RYR1):c.14601C>T (p.Ser4867=) rs370469515 0.00003
NM_000540.3(RYR1):c.14782A>G (p.Ile4928Val) rs1286759539 0.00003
NM_000540.3(RYR1):c.2365C>T (p.Arg789Trp) rs765445445 0.00003
NM_000540.3(RYR1):c.2489G>A (p.Arg830Gln) rs777191617 0.00003
NM_000540.3(RYR1):c.3022G>A (p.Ala1008Thr) rs770447929 0.00003
NM_000540.3(RYR1):c.3175C>T (p.Pro1059Ser) rs558190898 0.00003
NM_000540.3(RYR1):c.3179-16C>T rs982271145 0.00003
NM_000540.3(RYR1):c.3815C>T (p.Thr1272Ile) rs750818753 0.00003
NM_000540.3(RYR1):c.4415C>T (p.Thr1472Met) rs1318296270 0.00003
NM_000540.3(RYR1):c.4729G>A (p.Ala1577Thr) rs118192120 0.00003
NM_000540.3(RYR1):c.5120G>A (p.Arg1707His) rs371566475 0.00003
NM_000540.3(RYR1):c.7099G>A (p.Ala2367Thr) rs146306934 0.00003
NM_000540.3(RYR1):c.7771C>G (p.Arg2591Gly) rs193922822 0.00003
NM_000540.3(RYR1):c.7781C>T (p.Ser2594Leu) rs749564145 0.00003
NM_000540.3(RYR1):c.800+7C>T rs762118960 0.00003
NM_000540.3(RYR1):c.820C>T (p.Arg274Cys) rs770370125 0.00003
NM_000540.3(RYR1):c.821G>C (p.Arg274Pro) rs368711923 0.00003
NM_000540.3(RYR1):c.850G>A (p.Val284Ile) rs201388370 0.00003
NM_000540.3(RYR1):c.8752C>G (p.Arg2918Gly) rs571701341 0.00003
NM_000540.3(RYR1):c.9347C>T (p.Ser3116Leu) rs200238436 0.00003
NM_000540.3(RYR1):c.11198G>A (p.Cys3733Tyr) rs777478644 0.00002
NM_000540.3(RYR1):c.115G>A (p.Glu39Lys) rs539201276 0.00002
NM_000540.3(RYR1):c.13180G>A (p.Glu4394Lys) rs748844266 0.00002
NM_000540.3(RYR1):c.14132C>G (p.Ser4711Cys) rs201147958 0.00002
NM_000540.3(RYR1):c.14646+20C>G rs371199096 0.00002
NM_000540.3(RYR1):c.14647-1448T>C rs867338086 0.00002
NM_000540.3(RYR1):c.15061G>T (p.Asp5021Tyr) rs779358618 0.00002
NM_000540.3(RYR1):c.15089G>A (p.Arg5030His) rs747155223 0.00002
NM_000540.3(RYR1):c.1985A>G (p.Tyr662Cys) rs1200789458 0.00002
NM_000540.3(RYR1):c.2045G>A (p.Arg682Gln) rs372513400 0.00002
NM_000540.3(RYR1):c.2084C>G (p.Pro695Arg) rs756620310 0.00002
NM_000540.3(RYR1):c.2203C>T (p.His735Tyr) rs771629253 0.00002
NM_000540.3(RYR1):c.3127C>T (p.Arg1043Cys) rs111272095 0.00002
NM_000540.3(RYR1):c.4678G>A (p.Val1560Ile) rs767230160 0.00002
NM_000540.3(RYR1):c.4924G>A (p.Glu1642Lys) rs1041070277 0.00002
NM_000540.3(RYR1):c.5086G>A (p.Ala1696Thr) rs1179510850 0.00002
NM_000540.3(RYR1):c.569T>C (p.Val190Ala) rs752090652 0.00002
NM_000540.3(RYR1):c.6207A>G (p.Lys2069=) rs920135778 0.00002
NM_000540.3(RYR1):c.6274C>T (p.Arg2092Trp) rs772164452 0.00002
NM_000540.3(RYR1):c.6599C>T (p.Ala2200Val) rs193922791 0.00002
NM_000540.3(RYR1):c.6743G>A (p.Arg2248His) rs140152019 0.00002
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile) rs193922797 0.00002
NM_000540.3(RYR1):c.844C>T (p.Arg282Trp) rs1057518970 0.00002
NM_000540.3(RYR1):c.9892G>A (p.Ala3298Thr) rs544339193 0.00002
NM_000540.3(RYR1):c.9995C>G (p.Ala3332Gly) rs1309417886 0.00002
NM_000540.3(RYR1):c.10170C>T (p.Gly3390=) rs369239179 0.00001
NM_000540.3(RYR1):c.10189G>A (p.Glu3397Lys) rs201339536 0.00001
NM_000540.3(RYR1):c.10609A>G (p.Lys3537Glu) rs1009040238 0.00001
NM_000540.3(RYR1):c.10768G>A (p.Glu3590Lys) rs746611627 0.00001
NM_000540.3(RYR1):c.11213G>A (p.Gly3738Glu) rs1349985442 0.00001
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln) rs193922839 0.00001
NM_000540.3(RYR1):c.11578G>A (p.Glu3860Lys) rs199737015 0.00001
NM_000540.3(RYR1):c.11582A>G (p.Asp3861Gly) rs1219842381 0.00001
NM_000540.3(RYR1):c.11731A>G (p.Thr3911Ala) rs200622493 0.00001
NM_000540.3(RYR1):c.12343G>A (p.Glu4115Lys) rs760759823 0.00001
NM_000540.3(RYR1):c.12406C>A (p.Arg4136Ser) rs193922849 0.00001
NM_000540.3(RYR1):c.12572G>A (p.Arg4191His) rs765730833 0.00001
NM_000540.3(RYR1):c.13039G>A (p.Gly4347Ser) rs1568583100 0.00001
NM_000540.3(RYR1):c.13081T>A (p.Ser4361Thr) rs746798861 0.00001
NM_000540.3(RYR1):c.13120G>A (p.Val4374Met) rs1973363499 0.00001
NM_000540.3(RYR1):c.13216G>A (p.Glu4406Lys) rs1286397169 0.00001
NM_000540.3(RYR1):c.13484C>T (p.Pro4495Leu) rs138929547 0.00001
NM_000540.3(RYR1):c.13532A>G (p.Lys4511Arg) rs923603327 0.00001
NM_000540.3(RYR1):c.14167C>T (p.Arg4723Cys) rs200473035 0.00001
NM_000540.3(RYR1):c.14942T>C (p.Leu4981Pro) rs761963097 0.00001
NM_000540.3(RYR1):c.1715A>C (p.Glu572Ala) rs779551357 0.00001
NM_000540.3(RYR1):c.1834G>A (p.Ala612Thr) rs118204423 0.00001
NM_000540.3(RYR1):c.1882C>T (p.Arg628Cys) rs757284447 0.00001
NM_000540.3(RYR1):c.1909A>G (p.Ile637Val) rs567084532 0.00001
NM_000540.3(RYR1):c.2293G>C (p.Gly765Arg) rs1380227293 0.00001
NM_000540.3(RYR1):c.2561C>A (p.Pro854His) rs1314566176 0.00001
NM_000540.3(RYR1):c.2602C>T (p.Arg868Cys) rs138020885 0.00001
NM_000540.3(RYR1):c.2861T>C (p.Leu954Pro) rs1183111020 0.00001
NM_000540.3(RYR1):c.2924G>A (p.Arg975Gln) rs778241277 0.00001
NM_000540.3(RYR1):c.2966A>G (p.Glu989Gly) rs760305558 0.00001
NM_000540.3(RYR1):c.328C>T (p.His110Tyr) rs767777113 0.00001
NM_000540.3(RYR1):c.3436G>A (p.Asp1146Asn) rs765011921 0.00001
NM_000540.3(RYR1):c.3523G>A (p.Glu1175Lys) rs769744438 0.00001
NM_000540.3(RYR1):c.353G>A (p.Ser118Asn) rs766569166 0.00001
NM_000540.3(RYR1):c.3719G>T (p.Gly1240Val) rs1374486975 0.00001
NM_000540.3(RYR1):c.3761A>G (p.Tyr1254Cys) rs374083094 0.00001
NM_000540.3(RYR1):c.4318G>T (p.Ala1440Ser) rs1037124193 0.00001
NM_000540.3(RYR1):c.4444G>A (p.Val1482Ile) rs747718728 0.00001
NM_000540.3(RYR1):c.45+6T>C rs1230846317 0.00001
NM_000540.3(RYR1):c.4766A>C (p.Gln1589Pro) rs780420237 0.00001
NM_000540.3(RYR1):c.4817G>A (p.Arg1606His) rs368399715 0.00001
NM_000540.3(RYR1):c.4927G>A (p.Glu1643Lys) rs1197255639 0.00001
NM_000540.3(RYR1):c.526G>A (p.Glu176Lys) rs761616815 0.00001
NM_000540.3(RYR1):c.5275C>T (p.Arg1759Trp) rs759566652 0.00001
NM_000540.3(RYR1):c.5314A>G (p.Arg1772Gly) rs1568484835 0.00001
NM_000540.3(RYR1):c.6034T>C (p.Phe2012Leu) rs1445407200 0.00001
NM_000540.3(RYR1):c.6311G>A (p.Arg2104His) rs745319881 0.00001
NM_000540.3(RYR1):c.6445G>A (p.Val2149Met) rs776830747 0.00001
NM_000540.3(RYR1):c.6547G>A (p.Gly2183Arg) rs774275648 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.7028-10G>A rs1005260620 0.00001
NM_000540.3(RYR1):c.7072A>C (p.Ile2358Leu) rs759306349 0.00001
NM_000540.3(RYR1):c.7199A>G (p.Asp2400Gly) rs976108591 0.00001
NM_000540.3(RYR1):c.751G>A (p.Val251Met) rs1216903554 0.00001
NM_000540.3(RYR1):c.7604C>T (p.Ser2535Leu) rs776163386 0.00001
NM_000540.3(RYR1):c.7813G>A (p.Asp2605Asn) rs754339645 0.00001
NM_000540.3(RYR1):c.7843C>T (p.Arg2615Cys) rs1222041246 0.00001
NM_000540.3(RYR1):c.7873C>T (p.Arg2625Cys) rs377686237 0.00001
NM_000540.3(RYR1):c.8290G>A (p.Glu2764Lys) rs193922829 0.00001
NM_000540.3(RYR1):c.880G>A (p.Glu294Lys) rs779597449 0.00001
NM_000540.3(RYR1):c.9112A>G (p.Met3038Val) rs1302799425 0.00001
NM_000540.3(RYR1):c.9149T>A (p.Val3050Asp) rs1157851269 0.00001
NM_000540.3(RYR1):c.9278G>A (p.Arg3093His) rs1414706865 0.00001
NM_000540.3(RYR1):c.9473T>G (p.Leu3158Arg) rs774197359 0.00001
NM_000540.3(RYR1):c.9571G>A (p.Gly3191Arg) rs756331568 0.00001
NM_000540.3(RYR1):c.9652G>A (p.Val3218Met) rs553055844 0.00001
NM_000540.3(RYR1):c.9685A>G (p.Ile3229Val) rs1449733977 0.00001
NM_000540.3(RYR1):c.9706G>A (p.Val3236Met) rs771264217 0.00001
NM_000540.3(RYR1):c.9826A>G (p.Met3276Val) rs1568528315 0.00001
NM_000540.3(RYR1):c.9989A>G (p.Asp3330Gly) rs529012478 0.00001
NM_000540.3(RYR1):c.10108G>A (p.Gly3370Arg)
NM_000540.3(RYR1):c.10153G>T (p.Ala3385Ser) rs966978611
NM_000540.3(RYR1):c.10250ACA[2] (p.Asn3419del)
NM_000540.3(RYR1):c.10271T>G (p.Leu3424Arg) rs1568534667
NM_000540.3(RYR1):c.10455+6C>T
NM_000540.3(RYR1):c.10745G>T (p.Arg3582Leu)
NM_000540.3(RYR1):c.10883G>A (p.Arg3628His) rs1568541826
NM_000540.3(RYR1):c.10885C>T (p.Arg3629Trp) rs1434232361
NM_000540.3(RYR1):c.11049GGA[4] (p.Glu3689del) rs760784102
NM_000540.3(RYR1):c.11132C>G (p.Thr3711Arg) rs375915752
NM_000540.3(RYR1):c.11141G>A (p.Ser3714Asn) rs772821039
NM_000540.3(RYR1):c.11159A>G (p.Tyr3720Cys)
NM_000540.3(RYR1):c.11194-7T>G
NM_000540.3(RYR1):c.11314C>G (p.Arg3772Gly) rs763112609
NM_000540.3(RYR1):c.11354G>A (p.Cys3785Tyr) rs1320234323
NM_000540.3(RYR1):c.11543G>A (p.Arg3848Lys) rs1452778797
NM_000540.3(RYR1):c.11760C>G (p.Asp3920Glu) rs1568557623
NM_000540.3(RYR1):c.11864C>G (p.Ser3955Trp) rs751225696
NM_000540.3(RYR1):c.11885A>G (p.Asn3962Ser)
NM_000540.3(RYR1):c.1198G>A (p.Ala400Thr) rs777016690
NM_000540.3(RYR1):c.1211A>G (p.His404Arg) rs561546643
NM_000540.3(RYR1):c.12218_12219delinsTA (p.Ser4073Leu) rs1568562966
NM_000540.3(RYR1):c.12290A>C (p.Asp4097Ala) rs1392049101
NM_000540.3(RYR1):c.12332T>G (p.Leu4111Arg)
NM_000540.3(RYR1):c.12349_12350delinsAT (p.Asp4117Ile) rs1568575693
NM_000540.3(RYR1):c.12415G>A (p.Gly4139Ser) rs1489505433
NM_000540.3(RYR1):c.12443A>C (p.Asn4148Thr) rs1213878810
NM_000540.3(RYR1):c.12463C>G (p.His4155Asp)
NM_000540.3(RYR1):c.12521G>C (p.Arg4174Pro) rs1568576113
NM_000540.3(RYR1):c.12527A>T (p.Tyr4176Phe)
NM_000540.3(RYR1):c.12599A>G (p.Asn4200Ser) rs199660276
NM_000540.3(RYR1):c.12601C>T (p.Arg4201Cys) rs1568576431
NM_000540.3(RYR1):c.12652T>C (p.Phe4218Leu) rs1568581720
NM_000540.3(RYR1):c.12689T>G (p.Met4230Arg) rs1568581848
NM_000540.3(RYR1):c.12700G>A (p.Val4234Met)
NM_000540.3(RYR1):c.12779ACGAGG[1] (p.4260DE[1]) rs746833347
NM_000540.3(RYR1):c.12779ACGAGG[3] (p.4260DE[3]) rs746833347
NM_000540.3(RYR1):c.12808G>A (p.Ala4270Thr) rs1180037012
NM_000540.3(RYR1):c.12852CACGGCGGC[4] (p.4285TAA[4]) rs398123469
NM_000540.3(RYR1):c.12860_12869delinsT (p.Ala4287_Ala4290delinsVal) rs796065337
NM_000540.3(RYR1):c.12907C>G (p.Arg4303Gly) rs1027792397
NM_000540.3(RYR1):c.12951GCGGCGGCT[1] (p.4318RRL[1]) rs193922846
NM_000540.3(RYR1):c.12951GCGGCGGCT[3] (p.4318RRL[3]) rs193922846
NM_000540.3(RYR1):c.13196C>T (p.Pro4399Leu)
NM_000540.3(RYR1):c.13208C>T (p.Ala4403Val)
NM_000540.3(RYR1):c.13244_13264del (p.Ala4415_Asp4421del) rs763413580
NM_000540.3(RYR1):c.13244_13264dup (p.Ala4415_Asp4421dup) rs763413580
NM_000540.3(RYR1):c.13352C>T (p.Ala4451Val)
NM_000540.3(RYR1):c.13470_13487dup (p.Glu4498_Leu4499insProGluProGluProGlu)
NM_000540.3(RYR1):c.13477C>T (p.Pro4493Ser)
NM_000540.3(RYR1):c.13528G>A (p.Glu4510Lys)
NM_000540.3(RYR1):c.13597AAG[1] (p.Lys4534del) rs1336472022
NM_000540.3(RYR1):c.13628G>C (p.Gly4543Ala) rs200002274
NM_000540.3(RYR1):c.13690C>T (p.Arg4564Trp) rs753208767
NM_000540.3(RYR1):c.13703T>G (p.Leu4568Arg) rs118192131
NM_000540.3(RYR1):c.13720A>G (p.Ile4574Val) rs1458472157
NM_000540.3(RYR1):c.13724A>C (p.Asn4575Thr) rs1568591803
NM_000540.3(RYR1):c.1379A>G (p.His460Arg) rs1568445241
NM_000540.3(RYR1):c.1380C>G (p.His460Gln) rs750304434
NM_000540.3(RYR1):c.13904A>G (p.Glu4635Gly) rs1568593984
NM_000540.3(RYR1):c.13920G>A (p.Met4640Ile) rs1568594079
NM_000540.3(RYR1):c.14035G>A (p.Ala4679Thr)
NM_000540.3(RYR1):c.14069C>T (p.Thr4690Met)
NM_000540.3(RYR1):c.14186A>C (p.His4729Pro) rs1568601643
NM_000540.3(RYR1):c.14200G>A (p.Gly4734Arg) rs1456212776
NM_000540.3(RYR1):c.14304-3C>A rs1568602195
NM_000540.3(RYR1):c.14378T>C (p.Leu4793Pro) rs118192179
NM_000540.3(RYR1):c.14386T>C (p.Tyr4796His) rs1568604251
NM_000540.3(RYR1):c.1438G>A (p.Glu480Lys) rs878854375
NM_000540.3(RYR1):c.14418C>A (p.Asn4806Lys) rs751271794
NM_000540.3(RYR1):c.14424C>G (p.Phe4808Leu) rs780689135
NM_000540.3(RYR1):c.14471T>C (p.Leu4824Pro) rs193922874
NM_000540.3(RYR1):c.14509C>G (p.Gln4837Glu) rs1568604577
NM_000540.3(RYR1):c.14518A>T (p.Met4840Leu) rs933599635
NM_000540.3(RYR1):c.14519T>G (p.Met4840Arg) rs1568604966
NM_000540.3(RYR1):c.14598G>C (p.Lys4866Asn) rs1568605238
NM_000540.3(RYR1):c.14628G>C (p.Lys4876Asn) rs1395234830
NM_000540.3(RYR1):c.14642T>C (p.Met4881Thr) rs1568605367
NM_000540.3(RYR1):c.14647T>A (p.Cys4883Ser) rs1568611375
NM_000540.3(RYR1):c.14660A>T (p.His4887Leu) rs1568611398
NM_000540.3(RYR1):c.14681C>A (p.Ala4894Asp) rs193922890
NM_000540.3(RYR1):c.14693T>A (p.Ile4898Asn) rs118192170
NM_000540.3(RYR1):c.14737T>A (p.Tyr4913Asn)
NM_000540.3(RYR1):c.14761TTC[5] (p.Phe4924dup) rs1064794572
NM_000540.3(RYR1):c.14814C>G (p.Ile4938Met) rs118192159
NM_000540.3(RYR1):c.14819C>T (p.Ala4940Val) rs1568613107
NM_000540.3(RYR1):c.15030del (p.Ser5009_Tyr5010insTer)
NM_000540.3(RYR1):c.1632C>G (p.Asp544Glu) rs1568448011
NM_000540.3(RYR1):c.1640T>C (p.Val547Ala)
NM_000540.3(RYR1):c.1778G>A (p.Gly593Glu) rs1568448285
NM_000540.3(RYR1):c.1796T>C (p.Leu599Pro)
NM_000540.3(RYR1):c.1819G>A (p.Val607Met) rs1568450391
NM_000540.3(RYR1):c.1848C>A (p.Asn616Lys) rs1380871200
NM_000540.3(RYR1):c.190T>C (p.Cys64Arg) rs995399438
NM_000540.3(RYR1):c.2044C>T (p.Arg682Trp) rs776252106
NM_000540.3(RYR1):c.2075C>T (p.Thr692Ile) rs869312735
NM_000540.3(RYR1):c.212C>A (p.Ser71Tyr) rs118192113
NM_000540.3(RYR1):c.2191T>C (p.Ser731Pro)
NM_000540.3(RYR1):c.2224G>A (p.Val742Met) rs1364240080
NM_000540.3(RYR1):c.2287G>A (p.Val763Met) rs369947687
NM_000540.3(RYR1):c.2293G>A (p.Gly765Ser)
NM_000540.3(RYR1):c.2411C>T (p.Pro804Leu) rs1057524519
NM_000540.3(RYR1):c.2491G>A (p.Glu831Lys) rs981293403
NM_000540.3(RYR1):c.2594A>G (p.His865Arg) rs371862065
NM_000540.3(RYR1):c.2656A>G (p.Ile886Val) rs1568458376
NM_000540.3(RYR1):c.2923C>T (p.Arg975Trp) rs371278145
NM_000540.3(RYR1):c.2932C>T (p.Pro978Ser)
NM_000540.3(RYR1):c.3005A>G (p.Gln1002Arg)
NM_000540.3(RYR1):c.3070C>T (p.Arg1024Cys)
NM_000540.3(RYR1):c.3216C>T (p.Arg1072=) rs1968178599
NM_000540.3(RYR1):c.3381+6T>C rs1568463621
NM_000540.3(RYR1):c.3527C>T (p.Thr1176Ile) rs549201486
NM_000540.3(RYR1):c.3556G>A (p.Gly1186Ser) rs1568465251
NM_000540.3(RYR1):c.3643A>T (p.Ile1215Phe) rs1283129743
NM_000540.3(RYR1):c.3780C>G (p.Asp1260Glu) rs746617954
NM_000540.3(RYR1):c.3799C>A (p.Pro1267Thr) rs564495912
NM_000540.3(RYR1):c.3800C>G (p.Pro1267Arg) rs150495044
NM_000540.3(RYR1):c.3866G>C (p.Arg1289Pro) rs1222529194
NM_000540.3(RYR1):c.3873C>G (p.Ser1291Arg)
NM_000540.3(RYR1):c.3895C>G (p.His1299Asp)
NM_000540.3(RYR1):c.38T>G (p.Leu13Arg) rs193922744
NM_000540.3(RYR1):c.3961G>A (p.Glu1321Lys) rs1568469863
NM_000540.3(RYR1):c.4010C>T (p.Ser1337Leu)
NM_000540.3(RYR1):c.4027G>A (p.Glu1343Lys) rs956750749
NM_000540.3(RYR1):c.4105C>T (p.Pro1369Ser)
NM_000540.3(RYR1):c.4168T>C (p.Phe1390Leu)
NM_000540.3(RYR1):c.4191G>T (p.Met1397Ile)
NM_000540.3(RYR1):c.4478T>G (p.Met1493Arg) rs1568476094
NM_000540.3(RYR1):c.447G>A (p.Met149Ile) rs772652844
NM_000540.3(RYR1):c.4775C>A (p.Pro1592Gln) rs193922777
NM_000540.3(RYR1):c.479A>C (p.Glu160Ala) rs193922752
NM_000540.3(RYR1):c.4816C>A (p.Arg1606Ser) rs774316371
NM_000540.3(RYR1):c.490G>T (p.Val164Phe) rs776807425
NM_000540.3(RYR1):c.5017T>C (p.Cys1673Arg) rs1568484165
NM_000540.3(RYR1):c.5042C>T (p.Ala1681Val) rs1032892846
NM_000540.3(RYR1):c.5101C>T (p.His1701Tyr)
NM_000540.3(RYR1):c.518T>C (p.Val173Ala) rs763950469
NM_000540.3(RYR1):c.5322G>A (p.Pro1774=) rs572516017
NM_000540.3(RYR1):c.5335C>T (p.Pro1779Ser)
NM_000540.3(RYR1):c.5608G>A (p.Val1870Ile) rs1027874000
NM_000540.3(RYR1):c.5622_5633dup (p.Glu1878_Asp1879insGluGluGluGlu)
NM_000540.3(RYR1):c.5623G>C (p.Glu1875Gln) rs991483787
NM_000540.3(RYR1):c.573C>G (p.Asp191Glu)
NM_000540.3(RYR1):c.5833T>G (p.Tyr1945Asp) rs1258307067
NM_000540.3(RYR1):c.5927G>A (p.Arg1976His) rs771545581
NM_000540.3(RYR1):c.6023T>C (p.Met2008Thr) rs199947661
NM_000540.3(RYR1):c.6220AAG[2] (p.Lys2076del)
NM_000540.3(RYR1):c.6272C>A (p.Pro2091His) rs1555781055
NM_000540.3(RYR1):c.6475C>A (p.Leu2159Ile) rs1568493915
NM_000540.3(RYR1):c.6491C>T (p.Ser2164Leu) rs1473972613
NM_000540.3(RYR1):c.6521A>C (p.Glu2174Ala) rs746226400
NM_000540.3(RYR1):c.6612C>G (p.His2204Gln) rs141646642
NM_000540.3(RYR1):c.6726C>G (p.Ile2242Met) rs771658147
NM_000540.3(RYR1):c.6757C>T (p.His2253Tyr) rs917523269
NM_000540.3(RYR1):c.677T>A (p.Met226Lys) rs112596687
NM_000540.3(RYR1):c.7015G>T (p.Val2339Phe) rs1568500238
NM_000540.3(RYR1):c.7035C>G (p.Ser2345Arg) rs1448949048
NM_000540.3(RYR1):c.7042G>A (p.Glu2348Lys) rs1568500778
NM_000540.3(RYR1):c.7060G>A (p.Val2354Met) rs746971794
NM_000540.3(RYR1):c.7097C>G (p.Pro2366Arg) rs193922806
NM_000540.3(RYR1):c.7310C>T (p.Ala2437Val) rs193922812
NM_000540.3(RYR1):c.7315G>A (p.Glu2439Lys) rs1568501702
NM_000540.3(RYR1):c.7316A>G (p.Glu2439Gly)
NM_000540.3(RYR1):c.7396C>T (p.Leu2466Phe) rs767343838
NM_000540.3(RYR1):c.7522C>G (p.Arg2508Gly) rs118192178
NM_000540.3(RYR1):c.7655_7660del (p.Arg2552_Tyr2553del) rs1568504976
NM_000540.3(RYR1):c.7835+12C>T rs755502084
NM_000540.3(RYR1):c.7880T>G (p.Val2627Gly) rs747337318
NM_000540.3(RYR1):c.7921C>T (p.Leu2641Phe)
NM_000540.3(RYR1):c.7925A>G (p.Lys2642Arg) rs748696547
NM_000540.3(RYR1):c.800+4G>A rs774892189
NM_000540.3(RYR1):c.8104T>C (p.Cys2702Arg) rs1568510244
NM_000540.3(RYR1):c.8189A>G (p.Asp2730Gly) rs112196644
NM_000540.3(RYR1):c.8198G>T (p.Gly2733Val) rs193922828
NM_000540.3(RYR1):c.821G>A (p.Arg274His) rs368711923
NM_000540.3(RYR1):c.9001-15C>A rs372702492
NM_000540.3(RYR1):c.9250G>A (p.Gly3084Ser)
NM_000540.3(RYR1):c.9299C>T (p.Ser3100Leu)
NM_000540.3(RYR1):c.934T>C (p.Ser312Pro)
NM_000540.3(RYR1):c.9356G>A (p.Arg3119His) rs193922833
NM_000540.3(RYR1):c.9394A>G (p.Thr3132Ala)
NM_000540.3(RYR1):c.9486G>C (p.Gln3162His) rs1568524894
NM_000540.3(RYR1):c.949A>G (p.Ile317Val) rs763765599
NM_000540.3(RYR1):c.9563C>G (p.Pro3188Arg)
NM_000540.3(RYR1):c.957+5_957+29del rs794726982
NM_000540.3(RYR1):c.9603G>C (p.Met3201Ile) rs373611044
NM_000540.3(RYR1):c.97A>G (p.Lys33Glu) rs193922746
NM_000540.3(RYR1):c.982C>T (p.Arg328Trp) rs193922762
NM_001042723.1(RYR1):c.5140_5142del (p.Leu1714del) rs1438501767

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