ClinVar Miner

List of variants in gene RYR1 reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 617
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
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.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.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.7300G>A (p.Gly2434Arg) rs121918593 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.6274+1G>A rs1226228092 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.4729G>A (p.Ala1577Thr) rs118192120 0.00003
NM_000540.3(RYR1):c.5120G>A (p.Arg1707His) rs371566475 0.00003
NM_000540.3(RYR1):c.5340_5341del (p.Cys1781fs) rs779723153 0.00003
NM_000540.3(RYR1):c.7093G>A (p.Gly2365Arg) rs761224660 0.00003
NM_000540.3(RYR1):c.7210G>A (p.Glu2404Lys) rs111364296 0.00003
NM_000540.3(RYR1):c.9892G>A (p.Ala3298Thr) rs544339193 0.00003
NM_000540.3(RYR1):c.10347+1G>A rs111436401 0.00002
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.14173-2A>G rs1189024951 0.00002
NM_000540.3(RYR1):c.14474G>A (p.Arg4825His) rs193922875 0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_000540.3(RYR1):c.3523G>A (p.Glu1175Lys) rs769744438 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.8843del (p.Ser2948fs) rs765921831 0.00002
NM_000540.2(RYR1):c.14647-1449A>G rs193922886 0.00001
NM_000540.3(RYR1):c.103T>C (p.Cys35Arg) rs193922747 0.00001
NM_000540.3(RYR1):c.10450dup (p.Ile3484fs) rs767861590 0.00001
NM_000540.3(RYR1):c.10453C>T (p.Gln3485Ter) rs199895006 0.00001
NM_000540.3(RYR1):c.10619dup (p.Tyr3540Ter) rs780578391 0.00001
NM_000540.3(RYR1):c.10749_10753del (p.Glu3584fs) rs1412691915 0.00001
NM_000540.3(RYR1):c.10885C>T (p.Arg3629Trp) rs1434232361 0.00001
NM_000540.3(RYR1):c.10937+1G>C rs775682151 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.11590+1G>T rs113928116 0.00001
NM_000540.3(RYR1):c.11708G>A (p.Arg3903Gln) rs148399313 0.00001
NM_000540.3(RYR1):c.122T>C (p.Phe41Ser) rs766407858 0.00001
NM_000540.3(RYR1):c.1280C>T (p.Ser427Leu) rs118192118 0.00001
NM_000540.3(RYR1):c.12822C>T (p.Gly4274=) rs1568582347 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.14110C>T (p.Arg4704Ter) rs1568595930 0.00001
NM_000540.3(RYR1):c.14130-2A>G rs1457662393 0.00001
NM_000540.3(RYR1):c.14170A>C (p.Lys4724Gln) rs118192141 0.00001
NM_000540.3(RYR1):c.14209C>T (p.Arg4737Trp) rs193922867 0.00001
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln) rs193922868 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.14600G>A (p.Ser4867Asn) rs587784373 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.1655G>A (p.Arg552Gln) rs772978260 0.00001
NM_000540.3(RYR1):c.178G>A (p.Asp60Asn) rs118192160 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.2200C>T (p.Gln734Ter) rs768539376 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.2449C>T (p.Arg817Ter) rs150633775 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.3381+1G>A rs797045934 0.00001
NM_000540.3(RYR1):c.3424del (p.Trp1142fs) rs1168352165 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.5115_5122del (p.Leu1706fs) rs1248355799 0.00001
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe) rs193922781 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.5908C>T (p.Gln1970Ter) rs2514251900 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.6664-2A>G rs1346257891 0.00001
NM_000540.3(RYR1):c.6700C>T (p.Arg2234Cys) rs201465595 0.00001
NM_000540.3(RYR1):c.6797-1G>A rs1221087983 0.00001
NM_000540.3(RYR1):c.7007G>A (p.Arg2336His) rs112563513 0.00001
NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp) rs193922803 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.7355G>A (p.Arg2452Gln) rs193922815 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.8310+1G>T rs1970380121 0.00001
NM_000540.3(RYR1):c.838C>T (p.Arg280Ter) rs1278804520 0.00001
NM_000540.3(RYR1):c.848A>G (p.His283Arg) rs1966899604 0.00001
NM_000540.3(RYR1):c.8770C>T (p.Gln2924Ter) rs1245659010 0.00001
NM_000540.3(RYR1):c.8816G>A (p.Arg2939Lys) rs118192125 0.00001
NM_000540.3(RYR1):c.8953C>T (p.Arg2985Ter) rs1381679767 0.00001
NM_000540.3(RYR1):c.9001-2A>G rs774119942 0.00001
NM_000540.3(RYR1):c.9157C>T (p.Arg3053Ter) rs1374378105 0.00001
NM_000540.3(RYR1):c.9379C>T (p.Gln3127Ter) rs1970771582 0.00001
NM_000540.3(RYR1):c.9413C>T (p.Pro3138Leu) rs762652935 0.00001
NM_000540.3(RYR1):c.9472+1G>A rs776697656 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
NM_000540.3(RYR1):c.9847C>T (p.Arg3283Ter) rs752199191 0.00001
GRCh37/hg19 19q13.2(chr19:38956079-39052049)x1
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 rs2514143868
NC_000019.9:g.(?_38938975)_(38993630_?)del
NC_000019.9:g.(?_38948117)_(38980103_?)del
NC_000019.9:g.(?_38954043)_(38954510_?)del
NC_000019.9:g.(?_38954043)_(38955382_?)del
NC_000019.9:g.(?_38954043)_(38957058_?)del
NC_000019.9:g.(?_38973647)_(38974176_?)del
NC_000019.9:g.(?_38989728)_(39005767_?)del
NC_000019.9:g.(?_38993127)_(38993630_?)del
NC_000019.9:g.(?_39002191)_(39003133_?)del
NC_000019.9:g.(?_39023110)_(39023396_?)del
NC_000019.9:g.(?_39023110)_(39039080_?)del
NC_000019.9:g.(?_39033967)_(39039080_?)del
NC_000019.9:g.(?_39055579)_(39063967_?)del
NC_000019.9:g.(?_39058393)_(39061353_?)del
NC_000019.9:g.(?_39066539)_(39066621_?)del
NC_000019.9:g.(?_39068538)_(39068864_?)del
NC_000019.9:g.(?_39074134)_(39077236_?)del
NC_000019.9:g.(?_39075563)_(39078060_?)del
NC_000019.9:g.(?_39077145)_(39077236_?)del
NM_000540.2(RYR1):c.1439_1440+1del rs2514017119
NM_000540.2(RYR1):c.958_960del rs1064794313
NM_000540.2(RYR1):c.[10348-6C>G;14524G>A]
NM_000540.2(RYR1):c.[14344G>A;14928C>G]
NM_000540.2(RYR1):c.[5726_5727delAG;9242T>C]
NM_000540.3(RYR1):c.10063C>T (p.Gln3355Ter) rs2145688683
NM_000540.3(RYR1):c.1007del (p.Pro336fs) rs2513997081
NM_000540.3(RYR1):c.1008del (p.Glu337fs) rs1568441076
NM_000540.3(RYR1):c.10096del (p.Arg3366fs) rs2514443324
NM_000540.3(RYR1):c.10100A>G (p.Lys3367Arg) rs118192126
NM_000540.3(RYR1):c.10162del (p.Gln3388fs) rs1568530776
NM_000540.3(RYR1):c.10171G>T (p.Glu3391Ter) rs1216966090
NM_000540.3(RYR1):c.1021G>A (p.Gly341Arg) rs121918592
NM_000540.3(RYR1):c.1021G>C (p.Gly341Arg) rs121918592
NM_000540.3(RYR1):c.10278_10282dup (p.Asn3428fs) rs2145702358
NM_000540.3(RYR1):c.10283_10290dup (p.Ala3431fs) rs2514462373
NM_000540.3(RYR1):c.10334G>A (p.Trp3445Ter) rs2514462770
NM_000540.3(RYR1):c.10343C>T (p.Ser3448Phe) rs193922836
NM_000540.3(RYR1):c.10381C>T (p.Gln3461Ter) rs1971304148
NM_000540.3(RYR1):c.10471C>T (p.Gln3491Ter) rs2145711507
NM_000540.3(RYR1):c.10501dup (p.Asp3501fs) rs1568537774
NM_000540.3(RYR1):c.10543A>T (p.Lys3515Ter) rs2514477320
NM_000540.3(RYR1):c.10565_10566insAA (p.Asn3523fs) rs2514477591
NM_000540.3(RYR1):c.10579C>T (p.Pro3527Ser) rs118192164
NM_000540.3(RYR1):c.10615del (p.Arg3539fs) rs2514477883
NM_000540.3(RYR1):c.10620C>G (p.Tyr3540Ter) rs758247804
NM_000540.3(RYR1):c.10627-1G>C rs1568539909
NM_000540.3(RYR1):c.1064G>A (p.Trp355Ter)
NM_000540.3(RYR1):c.10656del (p.Leu3553fs) rs2514485464
NM_000540.3(RYR1):c.10671del (p.His3558fs) rs2514485599
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.10817T>C (p.Leu3606Pro) rs118192127
NM_000540.3(RYR1):c.10839C>A (p.Tyr3613Ter) rs1052742630
NM_000540.3(RYR1):c.10865del (p.Lys3622fs) rs2514494395
NM_000540.3(RYR1):c.10896dup (p.Val3633fs) rs1971574442
NM_000540.3(RYR1):c.10946dup (p.Cys3650fs) rs2514497007
NM_000540.3(RYR1):c.10960del (p.Leu3654fs) rs1971589827
NM_000540.3(RYR1):c.10961del (p.Leu3654fs) rs2514497218
NM_000540.3(RYR1):c.11119del (p.Arg3707fs) rs2514500387
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) rs2514517277
NM_000540.3(RYR1):c.11272del (p.Glu3758fs) rs2514526762
NM_000540.3(RYR1):c.11320del (p.Ala3774fs) rs768698639
NM_000540.3(RYR1):c.11320dup (p.Ala3774fs) rs768698639
NM_000540.3(RYR1):c.11326G>T (p.Glu3776Ter) rs1971893048
NM_000540.3(RYR1):c.11360-1_11374del rs1568549310
NM_000540.3(RYR1):c.11434C>T (p.Gln3812Ter) rs2514530658
NM_000540.3(RYR1):c.11494C>T (p.Gln3832Ter) rs2514531872
NM_000540.3(RYR1):c.11662C>T (p.Gln3888Ter) rs1555793236
NM_000540.3(RYR1):c.11671dup (p.Cys3891fs)
NM_000540.3(RYR1):c.11776C>T (p.Gln3926Ter) rs2514575421
NM_000540.3(RYR1):c.11778+1G>T rs1555794209
NM_000540.3(RYR1):c.11871dup (p.Lys3958Ter) rs2514577444
NM_000540.3(RYR1):c.11895_11896del (p.Glu3966fs) rs2514577605
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) rs2514579287
NM_000540.3(RYR1):c.11958C>G (p.Asp3986Glu) rs193922842
NM_000540.3(RYR1):c.11969G>T (p.Gly3990Val) rs193922843
NM_000540.3(RYR1):c.1198G>A (p.Ala400Thr) rs777016690
NM_000540.3(RYR1):c.11992dup (p.Met3998fs) rs2514579552
NM_000540.3(RYR1):c.12010C>T (p.Gln4004Ter) rs1972311901
NM_000540.3(RYR1):c.12013-2A>G rs986265810
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.1202G>T (p.Arg401Leu) rs193922766
NM_000540.3(RYR1):c.1205T>C (p.Met402Thr) rs118192117
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.1209C>G (p.Ile403Met) rs118192116
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) rs2514601212
NM_000540.3(RYR1):c.12295_12301del (p.Gln4099fs) rs2514651982
NM_000540.3(RYR1):c.12315_12328del (p.Glu4106fs) rs886042171
NM_000540.3(RYR1):c.12319del (p.Ile4107fs) rs754572007
NM_000540.3(RYR1):c.12371_12372delinsAA (p.Cys4124Ter) rs2514652531
NM_000540.3(RYR1):c.12487del (p.Leu4163fs) rs748048642
NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter) rs772494345
NM_000540.3(RYR1):c.12526_12527insGCCT (p.Tyr4176fs) rs2145831520
NM_000540.3(RYR1):c.12532G>A (p.Gly4178Ser) rs1057518885
NM_000540.3(RYR1):c.12567del (p.Ile4189fs) rs1973133322
NM_000540.3(RYR1):c.12580T>C (p.Phe4194Leu) rs1568576386
NM_000540.3(RYR1):c.12582C>G (p.Phe4194Leu) rs753263342
NM_000540.3(RYR1):c.12607C>T (p.Gln4203Ter) rs2514654709
NM_000540.3(RYR1):c.12612G>A (p.Trp4204Ter) rs794727982
NM_000540.3(RYR1):c.12613G>T (p.Glu4205Ter) rs1361451153
NM_000540.3(RYR1):c.12625-1G>T rs794727984
NM_000540.3(RYR1):c.12640_12648del (p.Arg4214_Phe4216del) rs118192165
NM_000540.3(RYR1):c.1267_1276dup (p.Gly426fs) rs1967149532
NM_000540.3(RYR1):c.12685_12704dup (p.Ser4235delinsArgArgTrpSerSerSerTer) rs2514674151
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) rs2514674870
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.12829G>T (p.Glu4277Ter) rs2145843996
NM_000540.3(RYR1):c.1286dup (p.Pro430fs) rs2514015864
NM_000540.3(RYR1):c.12877del (p.Ala4293fs) rs1973343538
NM_000540.3(RYR1):c.1290dup (p.Ala431fs) rs1273881385
NM_000540.3(RYR1):c.12916C>T (p.Arg4306Ter) rs1329745881
NM_000540.3(RYR1):c.12926_12929del (p.Ser4309fs) rs2514677222
NM_000540.3(RYR1):c.12954_12969dup (p.Thr4324fs) rs2514677532
NM_000540.3(RYR1):c.12978del (p.Glu4327fs) rs1568582893
NM_000540.3(RYR1):c.12986C>A (p.Ala4329Asp) rs118192129
NM_000540.3(RYR1):c.13011G>A (p.Trp4337Ter) rs2514678035
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) rs1973356105
NM_000540.3(RYR1):c.13041_13066del (p.Ala4348fs) rs2514678371
NM_000540.3(RYR1):c.13058del (p.Gly4353fs) rs1447188345
NM_000540.3(RYR1):c.13068_13078del (p.Leu4358fs) rs1973360239
NM_000540.3(RYR1):c.13085_13092del (p.Leu4362fs)
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys) rs193922748
NM_000540.3(RYR1):c.13175_13185del (p.His4392fs) rs2514679695
NM_000540.3(RYR1):c.13220del (p.Gly4407fs) rs1568583728
NM_000540.3(RYR1):c.13228G>T (p.Glu4410Ter) rs776964609
NM_000540.3(RYR1):c.13357_13361dup (p.Gly4455fs)
NM_000540.3(RYR1):c.13370dup (p.Met4457fs) rs2514682048
NM_000540.3(RYR1):c.13416del (p.Ile4473fs) rs2145847760
NM_000540.3(RYR1):c.1342A>T (p.Ile448Phe) rs911417327
NM_000540.3(RYR1):c.13437+1G>A rs1568584452
NM_000540.3(RYR1):c.13480G>T (p.Glu4494Ter) rs143849895
NM_000540.3(RYR1):c.13486del (p.Glu4496fs) rs2514689974
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.13566dup (p.Lys4523fs)
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) rs2514706791
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) rs1314705351
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.13888del (p.Tyr4630fs)
NM_000540.3(RYR1):c.13891T>A (p.Tyr4631Asn) rs118192132
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) rs1973745205
NM_000540.3(RYR1):c.13895del (p.Phe4632fs) rs1973745447
NM_000540.3(RYR1):c.13900G>A (p.Glu4634Lys) rs118192133
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.13912G>A (p.Gly4638Ser) rs118192136
NM_000540.3(RYR1):c.13913G>A (p.Gly4638Asp) rs118192135
NM_000540.3(RYR1):c.13919T>G (p.Met4640Arg) rs1568594068
NM_000540.3(RYR1):c.13949T>C (p.Leu4650Pro) rs118192138
NM_000540.3(RYR1):c.13952A>C (p.His4651Pro) rs118192139
NM_000540.3(RYR1):c.13952A>G (p.His4651Arg) rs118192139
NM_000540.3(RYR1):c.13990del (p.Cys4664fs)
NM_000540.3(RYR1):c.13994T>C (p.Leu4665Pro) rs2145870526
NM_000540.3(RYR1):c.14120_14129+14del rs762073383
NM_000540.3(RYR1):c.14173-1G>A rs2514738308
NM_000540.3(RYR1):c.14364+1G>A rs1974046221
NM_000540.3(RYR1):c.14365-2A>T rs193922870
NM_000540.3(RYR1):c.14378T>C (p.Leu4793Pro) rs118192179
NM_000540.3(RYR1):c.14384G>A (p.Trp4795Ter) rs2514748395
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.1440+2T>G rs1555767403
NM_000540.3(RYR1):c.14416A>G (p.Asn4806Asp) rs886039586
NM_000540.3(RYR1):c.14422_14423inv (p.Phe4808Asn)
NM_000540.3(RYR1):c.14423T>A (p.Phe4808Tyr) rs1274780855
NM_000540.3(RYR1):c.14424C>A (p.Phe4808Leu) rs780689135
NM_000540.3(RYR1):c.14437C>T (p.His4813Tyr) rs2145895177
NM_000540.3(RYR1):c.14440C>T (p.Leu4814Phe) rs118192142
NM_000540.3(RYR1):c.14447A>G (p.Asp4816Gly) rs1974129338
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.14495C>A (p.Thr4832Asn) rs1057520711
NM_000540.3(RYR1):c.14497C>T (p.His4833Tyr) rs193922876
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.14552T>C (p.Leu4851Pro) rs1085307631
NM_000540.3(RYR1):c.14555A>G (p.Tyr4852Cys) rs886042826
NM_000540.3(RYR1):c.14558C>A (p.Thr4853Asn) rs1555803922
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.14572A>G (p.Asn4858Asp) rs118192144
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.14587_14607del (p.Phe4863_Asp4869del) rs118192169
NM_000540.3(RYR1):c.14591A>G (p.Tyr4864Cys) rs118192146
NM_000540.3(RYR1):c.14627A>G (p.Lys4876Arg) rs113210953
NM_000540.3(RYR1):c.14647-15_14649del rs1599673988
NM_000540.3(RYR1):c.14659C>T (p.His4887Tyr) rs118192147
NM_000540.3(RYR1):c.14667C>A (p.Tyr4889Ter) rs193922887
NM_000540.3(RYR1):c.14671G>C (p.Gly4891Arg) rs118192149
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.14678G>C (p.Arg4893Pro) 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.14690G>T (p.Gly4897Val) rs118192148
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.14717C>T (p.Ala4906Val) rs118192153
NM_000540.3(RYR1):c.14731G>A (p.Glu4911Lys) rs886044196
NM_000540.3(RYR1):c.14740A>G (p.Arg4914Gly) rs118192184
NM_000540.3(RYR1):c.14741G>C (p.Arg4914Thr) rs118192154
NM_000540.3(RYR1):c.14752G>A (p.Asp4918Asn) rs1469916243
NM_000540.3(RYR1):c.14759C>A (p.Thr4920Asn) rs118192155
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del) rs1064794572
NM_000540.3(RYR1):c.14761_14762delinsAC (p.Phe4921Thr) rs118192171
NM_000540.3(RYR1):c.14762T>C (p.Phe4921Ser) rs118192156
NM_000540.3(RYR1):c.14773GTCATC[1] (p.4925VI[1]) rs193922893
NM_000540.3(RYR1):c.14789del (p.Leu4930fs) rs780299183
NM_000540.3(RYR1):c.14803G>A (p.Gly4935Ser) rs2145913747
NM_000540.3(RYR1):c.14804G>A (p.Gly4935Asp) rs979090493
NM_000540.3(RYR1):c.14807T>G (p.Leu4936Arg) rs1568613061
NM_000540.3(RYR1):c.14814C>G (p.Ile4938Met) rs118192159
NM_000540.3(RYR1):c.14842C>A (p.Gln4948Lys) rs1555805633
NM_000540.3(RYR1):c.14843A>G (p.Gln4948Arg) rs1974467952
NM_000540.3(RYR1):c.14845G>T (p.Glu4949Ter) rs2514778854
NM_000540.3(RYR1):c.14869-1G>T rs193922897
NM_000540.3(RYR1):c.14928C>A (p.Phe4976Leu) rs368874586
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.1565A>C (p.Tyr522Ser) rs118192162
NM_000540.3(RYR1):c.1576+1G>A rs2145393963
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) rs2514027187
NM_000540.3(RYR1):c.1670C>T (p.Ser557Phe) rs1967329033
NM_000540.3(RYR1):c.1675dup (p.Ile559fs) rs1475149579
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.1823_1824dup (p.Asn609fs)
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.1890del (p.Leu631fs) rs1600683021
NM_000540.3(RYR1):c.1966dup (p.Thr656fs) rs2514041659
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) rs2513965560
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.2097_2123del (p.Glu699_Gly707del) rs876661306
NM_000540.3(RYR1):c.212C>A (p.Ser71Tyr) rs118192113
NM_000540.3(RYR1):c.221_222del (p.Val74fs) rs2513965654
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.2455C>T (p.Arg819Ter) rs193922774
NM_000540.3(RYR1):c.2485C>T (p.Arg829Ter) rs778320565
NM_000540.3(RYR1):c.2500_2501dup (p.Pro836fs) rs1568454672
NM_000540.3(RYR1):c.2505del (p.Pro836fs) rs797045932
NM_000540.3(RYR1):c.2583_2586delinsGCT (p.Pro863fs) rs1555772199
NM_000540.3(RYR1):c.2635G>T (p.Glu879Ter) rs746904839
NM_000540.3(RYR1):c.2643G>A (p.Trp881Ter) rs2514074208
NM_000540.3(RYR1):c.2662C>T (p.Gln888Ter) rs141838633
NM_000540.3(RYR1):c.2683-1G>A rs2145434598
NM_000540.3(RYR1):c.2791_2792del (p.Leu931fs) rs2514083605
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) rs2514102015
NM_000540.3(RYR1):c.3485C>T (p.Thr1162Ile) rs1280346095
NM_000540.3(RYR1):c.3494G>A (p.Gly1165Asp) rs559581937
NM_000540.3(RYR1):c.3655C>T (p.Gln1219Ter) rs1314539077
NM_000540.3(RYR1):c.3727del (p.Gln1243fs) rs2514117907
NM_000540.3(RYR1):c.3772C>T (p.Arg1258Ter) rs1276512455
NM_000540.3(RYR1):c.3800C>G (p.Pro1267Arg) rs150495044
NM_000540.3(RYR1):c.3801del (p.Cys1268fs) rs587784374
NM_000540.3(RYR1):c.3801dup (p.Cys1268fs) rs587784374
NM_000540.3(RYR1):c.3802del (p.Cys1268fs) rs1305848585
NM_000540.3(RYR1):c.3828G>A (p.Trp1276Ter) rs2145482955
NM_000540.3(RYR1):c.3883C>T (p.Gln1295Ter)
NM_000540.3(RYR1):c.3889del (p.His1297fs) rs2514146143
NM_000540.3(RYR1):c.3899del (p.Phe1300fs)
NM_000540.3(RYR1):c.38T>G (p.Leu13Arg) rs193922744
NM_000540.3(RYR1):c.3943del (p.Gln1315fs) rs2514146983
NM_000540.3(RYR1):c.3951del (p.Ala1318fs) rs772166066
NM_000540.3(RYR1):c.3951dup (p.Ala1318fs) rs772166066
NM_000540.3(RYR1):c.3955G>T (p.Glu1319Ter) rs748809831
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) rs2514149162
NM_000540.3(RYR1):c.4076del (p.Gly1359fs) rs794727460
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) rs2514149910
NM_000540.3(RYR1):c.4094dup (p.Glu1366fs) rs587784375
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) rs2514176987
NM_000540.3(RYR1):c.4343G>A (p.Trp1448Ter) rs2514177181
NM_000540.3(RYR1):c.4368C>G (p.Tyr1456Ter) rs2514177448
NM_000540.3(RYR1):c.4372C>T (p.Gln1458Ter)
NM_000540.3(RYR1):c.4383del (p.Met1461fs) rs2514177715
NM_000540.3(RYR1):c.4408del (p.Val1470fs) rs2514178001
NM_000540.3(RYR1):c.4430_4437del (p.Asp1477fs) rs2514178269
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) rs1968852685
NM_000540.3(RYR1):c.4485_4500del (p.Val1494_Trp1495insTer) rs886041511
NM_000540.3(RYR1):c.4496_4497del (p.Phe1499fs) rs1568476203
NM_000540.3(RYR1):c.4537_4540dup (p.Val1514fs)
NM_000540.3(RYR1):c.4665del (p.Thr1556fs) rs2514210823
NM_000540.3(RYR1):c.4672C>T (p.Gln1558Ter) rs1064793717
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) rs2514214514
NM_000540.3(RYR1):c.4875_4879dup (p.Val1627fs) rs758867047
NM_000540.3(RYR1):c.487C>T (p.Arg163Cys) rs118192161
NM_000540.3(RYR1):c.488G>T (p.Arg163Leu) rs193922753
NM_000540.3(RYR1):c.5077_5078delinsG (p.Leu1693fs) rs1600770908
NM_000540.3(RYR1):c.5158G>T (p.Glu1720Ter) rs746317037
NM_000540.3(RYR1):c.5218G>T (p.Glu1740Ter) rs1169938399
NM_000540.3(RYR1):c.528G>T (p.Glu176Asp) rs1568436081
NM_000540.3(RYR1):c.5309C>A (p.Ser1770Ter) rs398123472
NM_000540.3(RYR1):c.5322_5340dup (p.Cys1781fs)
NM_000540.3(RYR1):c.5333C>A (p.Ser1778Ter) rs367543055
NM_000540.3(RYR1):c.5340dup (p.Cys1781fs) rs1969271215
NM_000540.3(RYR1):c.5449del (p.Glu1817fs) rs2145545066
NM_000540.3(RYR1):c.5487del (p.Val1830fs) rs887506743
NM_000540.3(RYR1):c.5509C>T (p.Gln1837Ter) rs1249942711
NM_000540.3(RYR1):c.5618del (p.Glu1873fs) rs1600783776
NM_000540.3(RYR1):c.5701C>T (p.Gln1901Ter)
NM_000540.3(RYR1):c.5749G>T (p.Glu1917Ter) rs781075511
NM_000540.3(RYR1):c.5812C>T (p.Gln1938Ter) rs2514247207
NM_000540.3(RYR1):c.5917C>T (p.Gln1973Ter) rs2145562180
NM_000540.3(RYR1):c.5938del (p.Leu1980fs) rs193922786
NM_000540.3(RYR1):c.5989G>A (p.Glu1997Lys) rs1366464512
NM_000540.3(RYR1):c.5995C>T (p.Arg1999Cys) rs767508472
NM_000540.3(RYR1):c.5995del (p.Arg1999fs) rs1600787461
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.6127+1G>A rs1283302989
NM_000540.3(RYR1):c.6175_6187del (p.Leu2059fs)
NM_000540.3(RYR1):c.6229_6232del (p.Glu2077fs) rs2514265191
NM_000540.3(RYR1):c.6232G>T (p.Glu2078Ter) rs1131691626
NM_000540.3(RYR1):c.643G>T (p.Gly215Ter) rs1393197844
NM_000540.3(RYR1):c.644G>A (p.Gly215Glu) rs118192115
NM_000540.3(RYR1):c.6469del (p.Glu2157fs) rs2514275843
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) rs2514286346
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 rs1568497199
NM_000540.3(RYR1):c.6806dup (p.Ser2270fs) rs886041380
NM_000540.3(RYR1):c.6811_6836del (p.Thr2271fs) rs2514294206
NM_000540.3(RYR1):c.6817dup (p.Leu2273fs)
NM_000540.3(RYR1):c.6847A>C (p.Asn2283His) rs118192121
NM_000540.3(RYR1):c.6891+1G>T rs2514295187
NM_000540.3(RYR1):c.6933dup (p.Met2312fs) rs1969980104
NM_000540.3(RYR1):c.6948dup (p.Gly2317fs) rs2514308338
NM_000540.3(RYR1):c.6953del (p.Tyr2318fs)
NM_000540.3(RYR1):c.7018T>C (p.Phe2340Leu) rs1969983957
NM_000540.3(RYR1):c.7035C>A (p.Ser2345Arg) rs1448949048
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) rs2513956373
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.7124G>C (p.Gly2375Ala) rs193922807
NM_000540.3(RYR1):c.7144del (p.Glu2382fs) rs2514313327
NM_000540.3(RYR1):c.718C>T (p.Gln240Ter)
NM_000540.3(RYR1):c.7210G>T (p.Glu2404Ter) rs111364296
NM_000540.3(RYR1):c.7215del (p.Phe2406fs) rs1568501473
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) rs776250086
NM_000540.3(RYR1):c.7324-1G>A rs193922814
NM_000540.3(RYR1):c.7324-1G>T rs193922814
NM_000540.3(RYR1):c.7330C>T (p.Gln2444Ter) rs1970064722
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) rs2513987722
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.7463_7475del (p.Pro2488fs) rs794727683
NM_000540.3(RYR1):c.7522C>G (p.Arg2508Gly) rs118192178
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.7614+1G>A rs2145606794
NM_000540.3(RYR1):c.7635G>C (p.Glu2545Asp) rs193922820
NM_000540.3(RYR1):c.7706_7707del (p.Phe2569fs)
NM_000540.3(RYR1):c.7719_7768dup (p.Ser2590fs) rs2514333859
NM_000540.3(RYR1):c.7744_7745del (p.Met2582fs) rs2145614282
NM_000540.3(RYR1):c.776G>A (p.Trp259Ter) rs2513988028
NM_000540.3(RYR1):c.7770dup (p.Arg2591fs) rs2514334578
NM_000540.3(RYR1):c.7775dup (p.Arg2593fs) rs1281875506
NM_000540.3(RYR1):c.7784_7791del (p.Leu2595fs) rs1600832922
NM_000540.3(RYR1):c.784G>T (p.Glu262Ter) rs1381186128
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) rs2514351217
NM_000540.3(RYR1):c.7969_7970delinsA (p.Leu2657fs) rs1555785090
NM_000540.3(RYR1):c.7983G>A (p.Trp2661Ter) rs2514351347
NM_000540.3(RYR1):c.8046_8064dup (p.Lys2689delinsLeuTer) rs1970341946
NM_000540.3(RYR1):c.8136dup (p.Asp2713fs) rs761483896
NM_000540.3(RYR1):c.8141_8142del (p.Tyr2714fs) rs990931567
NM_000540.3(RYR1):c.8159C>A (p.Ser2720Ter) rs1568510406
NM_000540.3(RYR1):c.8196del (p.Gly2733fs) rs1600844997
NM_000540.3(RYR1):c.8227del (p.Leu2743fs) rs2514355269
NM_000540.3(RYR1):c.8652_8653insG (p.Thr2885fs)
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) rs2514370569
NM_000540.3(RYR1):c.8724C>A (p.Tyr2908Ter) rs797045935
NM_000540.3(RYR1):c.8746A>T (p.Lys2916Ter) rs1232312472
NM_000540.3(RYR1):c.8758C>T (p.Arg2920Ter) rs2514370856
NM_000540.3(RYR1):c.8773G>T (p.Glu2925Ter) rs2145638522
NM_000540.3(RYR1):c.8812dup (p.Thr2938fs) rs1555785906
NM_000540.3(RYR1):c.8888T>C (p.Leu2963Pro) rs756870293
NM_000540.3(RYR1):c.8929_8932+4delinsAAGCGG rs1555786205
NM_000540.3(RYR1):c.8935_8945del (p.Ala2979fs) rs2514393555
NM_000540.3(RYR1):c.8977C>T (p.Gln2993Ter)
NM_000540.3(RYR1):c.9000+1G>A rs111364670
NM_000540.3(RYR1):c.9047A>G (p.Tyr3016Cys) rs1555786853
NM_000540.3(RYR1):c.9077_9086del (p.Gly3026fs) rs2514395251
NM_000540.3(RYR1):c.9168_9169del (p.Phe3057fs) rs1555787058
NM_000540.3(RYR1):c.9170_9171del (p.Phe3057fs) rs2514400257
NM_000540.3(RYR1):c.9310G>A (p.Glu3104Lys) rs193922832
NM_000540.3(RYR1):c.9345del (p.Ser3116fs) rs2145663047
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.9791_9792del (p.Thr3264fs)
NM_000540.3(RYR1):c.97A>G (p.Lys33Glu) rs193922746
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.9852G>A (p.Trp3284Ter) rs2514433461
NM_000540.3(RYR1):c.9905dup (p.Pro3303fs) rs749656679
NM_000540.3(RYR1):c.9909del (p.Cys3304fs) rs768939660
NM_000540.3(RYR1):c.9983del (p.Gly3328fs) rs2145682923

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.