ClinVar Miner

List of variants in gene RYR1 reported as likely pathogenic

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Gene type:
ClinVar version:
Total variants: 561
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605 0.00107
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_000540.3(RYR1):c.1598G>A (p.Arg533His) rs144336148 0.00029
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp) rs147320363 0.00014
NM_000540.3(RYR1):c.2654G>A (p.Arg885His) rs370634440 0.00013
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.2366G>A (p.Arg789Gln) rs200069592 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.7261G>T (p.Ala2421Ser) rs193922808 0.00010
NM_000540.3(RYR1):c.2956C>T (p.Arg986Cys) rs150993059 0.00006
NM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp) rs587784379 0.00006
NM_000540.3(RYR1):c.9758T>C (p.Ile3253Thr) rs375626634 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.6418C>T (p.Arg2140Trp) rs750275456 0.00005
NM_000540.3(RYR1):c.11557G>A (p.Glu3853Lys) rs145087576 0.00004
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.1841G>A (p.Arg614His) rs193922772 0.00004
NM_000540.3(RYR1):c.4361C>T (p.Pro1454Leu) rs149737658 0.00004
NM_000540.3(RYR1):c.5340_5341del (p.Cys1781fs) rs779723153 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.10229C>T (p.Pro3410Leu) rs769196275 0.00003
NM_000540.3(RYR1):c.1099C>T (p.Arg367Trp) rs140037232 0.00003
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.5115_5122del (p.Leu1706fs) rs1248355799 0.00003
NM_000540.3(RYR1):c.7093G>A (p.Gly2365Arg) rs761224660 0.00003
NM_000540.3(RYR1):c.7099G>A (p.Ala2367Thr) rs146306934 0.00003
NM_000540.3(RYR1):c.7291G>A (p.Asp2431Asn) rs193922810 0.00003
NM_000540.3(RYR1):c.7613C>T (p.Thr2538Met) rs575446156 0.00003
NM_000540.3(RYR1):c.7771C>G (p.Arg2591Gly) rs193922822 0.00003
NM_000540.3(RYR1):c.947G>T (p.Arg316Leu) rs193922761 0.00003
NM_000540.3(RYR1):c.9811G>A (p.Glu3271Lys) rs773026490 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.1264G>A (p.Gly422Arg) rs757157750 0.00002
NM_000540.3(RYR1):c.13990T>C (p.Cys4664Arg) rs759500310 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.15089G>A (p.Arg5030His) rs747155223 0.00002
NM_000540.3(RYR1):c.2045G>A (p.Arg682Gln) rs372513400 0.00002
NM_000540.3(RYR1):c.2635G>A (p.Glu879Lys) rs746904839 0.00002
NM_000540.3(RYR1):c.3877C>A (p.Pro1293Thr) rs146407179 0.00002
NM_000540.3(RYR1):c.4674dup (p.Asn1559fs) rs759632485 0.00002
NM_000540.3(RYR1):c.5920C>T (p.Arg1974Trp) rs779733902 0.00002
NM_000540.3(RYR1):c.6359T>C (p.Met2120Thr) rs398123473 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.844C>T (p.Arg282Trp) rs1057518970 0.00002
NM_000540.3(RYR1):c.9892G>A (p.Ala3298Thr) rs544339193 0.00002
NM_000540.3(RYR1):c.10749_10753del (p.Glu3584fs) rs1412691915 0.00001
NM_000540.3(RYR1):c.10937+1G>C rs775682151 0.00001
NM_000540.3(RYR1):c.1100G>A (p.Arg367Gln) rs113332073 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.11608+2T>C rs1443083095 0.00001
NM_000540.3(RYR1):c.11708G>A (p.Arg3903Gln) rs148399313 0.00001
NM_000540.3(RYR1):c.12406C>A (p.Arg4136Ser) rs193922849 0.00001
NM_000540.3(RYR1):c.12624+1G>C rs770054352 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.13724A>G (p.Asn4575Ser) rs1568591803 0.00001
NM_000540.3(RYR1):c.14129+1G>A rs142929172 0.00001
NM_000540.3(RYR1):c.14209C>T (p.Arg4737Trp) rs193922867 0.00001
NM_000540.3(RYR1):c.14645C>T (p.Thr4882Met) rs193922884 0.00001
NM_000540.3(RYR1):c.14701G>A (p.Glu4901Lys) rs764602570 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.15021G>C (p.Gln5007His) rs376293495 0.00001
NM_000540.3(RYR1):c.1597C>T (p.Arg533Cys) rs193922768 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.2119G>A (p.Gly707Ser) rs376526576 0.00001
NM_000540.3(RYR1):c.2167G>A (p.Gly723Arg) rs755496104 0.00001
NM_000540.3(RYR1):c.2682G>T (p.Pro894=) rs919322708 0.00001
NM_000540.3(RYR1):c.3224G>A (p.Arg1075Gln) rs749040743 0.00001
NM_000540.3(RYR1):c.3235_3240dup (p.Ser1079_Tyr1080dup) rs797045933 0.00001
NM_000540.3(RYR1):c.3253G>A (p.Gly1085Ser) rs752849270 0.00001
NM_000540.3(RYR1):c.326G>A (p.Arg109Gln) rs762278203 0.00001
NM_000540.3(RYR1):c.328C>T (p.His110Tyr) rs767777113 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+5G>A rs199691436 0.00001
NM_000540.3(RYR1):c.3523G>A (p.Glu1175Lys) rs769744438 0.00001
NM_000540.3(RYR1):c.3535C>T (p.Arg1179Trp) rs763944786 0.00001
NM_000540.3(RYR1):c.3686_3699del (p.Met1229fs) rs774319202 0.00001
NM_000540.3(RYR1):c.4160+1G>A rs113460156 0.00001
NM_000540.3(RYR1):c.46-1G>A rs1238479593 0.00001
NM_000540.3(RYR1):c.4715T>C (p.Met1572Thr) rs1165213387 0.00001
NM_000540.3(RYR1):c.4777C>T (p.Arg1593Trp) rs1229854214 0.00001
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe) rs193922781 0.00001
NM_000540.3(RYR1):c.6445G>A (p.Val2149Met) rs776830747 0.00001
NM_000540.3(RYR1):c.658C>T (p.Arg220Cys) rs1220780685 0.00001
NM_000540.3(RYR1):c.6664-2A>G rs1346257891 0.00001
NM_000540.3(RYR1):c.6797-1G>A rs1221087983 0.00001
NM_000540.3(RYR1):c.6823G>A (p.Val2275Met) rs756847750 0.00001
NM_000540.3(RYR1):c.7007G>A (p.Arg2336His) rs112563513 0.00001
NM_000540.3(RYR1):c.7027G>A (p.Gly2343Ser) rs536596969 0.00001
NM_000540.3(RYR1):c.7036G>A (p.Val2346Met) rs193922799 0.00001
NM_000540.3(RYR1):c.7043A>G (p.Glu2348Gly) rs193922801 0.00001
NM_000540.3(RYR1):c.7076G>A (p.Arg2359Gln) rs1387126664 0.00001
NM_000540.3(RYR1):c.7199A>G (p.Asp2400Gly) rs976108591 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.7372C>T (p.Arg2458Cys) rs28933397 0.00001
NM_000540.3(RYR1):c.7373G>A (p.Arg2458His) rs121918594 0.00001
NM_000540.3(RYR1):c.7757T>A (p.Val2586Glu) rs577314143 0.00001
NM_000540.3(RYR1):c.7858C>T (p.Gln2620Ter) rs1365856881 0.00001
NM_000540.3(RYR1):c.7879G>C (p.Val2627Leu) rs914804033 0.00001
NM_000540.3(RYR1):c.8026C>T (p.Arg2676Trp) rs193922826 0.00001
NM_000540.3(RYR1):c.8027G>A (p.Arg2676Gln) rs780455924 0.00001
NM_000540.3(RYR1):c.8290G>A (p.Glu2764Lys) rs193922829 0.00001
NM_000540.3(RYR1):c.8291A>G (p.Glu2764Gly) rs1403616422 0.00001
NM_000540.3(RYR1):c.8310+1G>T rs1970380121 0.00001
NM_000540.3(RYR1):c.839G>A (p.Arg280Gln) rs1319877486 0.00001
NM_000540.3(RYR1):c.8888T>C (p.Leu2963Pro) rs756870293 0.00001
NM_000540.3(RYR1):c.9149T>A (p.Val3050Asp) rs1157851269 0.00001
NM_000540.3(RYR1):c.9157C>T (p.Arg3053Ter) rs1374378105 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.9716T>A (p.Met3239Lys) rs371027185 0.00001
NM_000540.3(RYR1):c.983G>A (p.Arg328Gln) rs755875230 0.00001
GRCh37/hg19 19q13.2(chr19:38987608-38993136)
NC_000019.10:g.(?_38585928)_(38586012_?)dup
NC_000019.9:g.(?_39013648)_(39028620_?)dup
NC_000019.9:g.(?_39038853)_(39039080_?)dup
NC_000019.9:g.(?_39038863)_(39039070_?)dup
NC_000019.9:g.(?_39066549)_(39078060_?)del
NM_000540.2(RYR1):c.14970delG rs1568613962
NM_000540.2(RYR1):c.[14524G>A];[2029C>T]
NM_000540.2(RYR1):c.[14645C>T];[6721C>T]
NM_000540.3(RYR1):c.10018G>A (p.Val3340Met) rs1600892115
NM_000540.3(RYR1):c.1007dup (p.Pro336_Glu337insTer)
NM_000540.3(RYR1):c.1021G>A (p.Gly341Arg) rs121918592
NM_000540.3(RYR1):c.10229C>G (p.Pro3410Arg)
NM_000540.3(RYR1):c.10259+1G>A
NM_000540.3(RYR1):c.10347+1G>A rs111436401
NM_000540.3(RYR1):c.10440+2_10440+22del rs1971306200
NM_000540.3(RYR1):c.10441-48G>A
NM_000540.3(RYR1):c.10501G>T (p.Asp3501Tyr) rs763259167
NM_000540.3(RYR1):c.10501dup (p.Asp3501fs) rs1568537774
NM_000540.3(RYR1):c.10556C>T (p.Pro3519Leu) rs1600921854
NM_000540.3(RYR1):c.10561G>A (p.Gly3521Ser)
NM_000540.3(RYR1):c.10561G>C (p.Gly3521Arg) rs1420692006
NM_000540.3(RYR1):c.10626+1G>A
NM_000540.3(RYR1):c.10627-1G>C rs1568539909
NM_000540.3(RYR1):c.10634_10635del (p.Thr3545fs)
NM_000540.3(RYR1):c.10686+1G>A
NM_000540.3(RYR1):c.10686+2T>C
NM_000540.3(RYR1):c.10687-2A>G rs1600930323
NM_000540.3(RYR1):c.10725_10726del (p.Tyr3576fs) rs1555790936
NM_000540.3(RYR1):c.10729C>G (p.Arg3577Gly) rs538497899
NM_000540.3(RYR1):c.10824+1G>C
NM_000540.3(RYR1):c.10824+2T>G
NM_000540.3(RYR1):c.10922T>C (p.Leu3641Pro) rs1555791151
NM_000540.3(RYR1):c.10924T>G (p.Tyr3642Asp) rs1971575594
NM_000540.3(RYR1):c.10937+1G>A rs775682151
NM_000540.3(RYR1):c.10985_11034+80delinsCCTCAA rs2145723826
NM_000540.3(RYR1):c.11178_11193+7del rs1600949818
NM_000540.3(RYR1):c.11315G>T (p.Arg3772Leu) rs193922839
NM_000540.3(RYR1):c.11320del (p.Ala3774fs) rs768698639
NM_000540.3(RYR1):c.11320dup (p.Ala3774fs) rs768698639
NM_000540.3(RYR1):c.11360-1_11374del rs1568549310
NM_000540.3(RYR1):c.11439+1G>C
NM_000540.3(RYR1):c.11517-2A>G
NM_000540.3(RYR1):c.11557G>C (p.Glu3853Gln)
NM_000540.3(RYR1):c.11591-1G>A
NM_000540.3(RYR1):c.11608+1G>A
NM_000540.3(RYR1):c.11608+1G>C
NM_000540.3(RYR1):c.11690-2A>C rs2145774562
NM_000540.3(RYR1):c.11697G>C (p.Gln3899His) rs1555794184
NM_000540.3(RYR1):c.11708G>T (p.Arg3903Leu)
NM_000540.3(RYR1):c.11715G>C (p.Gln3905His)
NM_000540.3(RYR1):c.1186G>A (p.Glu396Lys) rs774919231
NM_000540.3(RYR1):c.11908-2A>T rs763146574
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.11958C>G (p.Asp3986Glu) rs193922842
NM_000540.3(RYR1):c.1198G>A (p.Ala400Thr) rs777016690
NM_000540.3(RYR1):c.12012G>A (p.Gln4004=)
NM_000540.3(RYR1):c.1202G>T (p.Arg401Leu) 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.12094+2T>C
NM_000540.3(RYR1):c.12095-2A>G
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.12145G>C (p.Glu4049Gln)
NM_000540.3(RYR1):c.12145_12146delinsTT (p.Glu4049Leu) rs2145790333
NM_000540.3(RYR1):c.12147A>C (p.Glu4049Asp)
NM_000540.3(RYR1):c.12149C>A (p.Ser4050Tyr) rs193922844
NM_000540.3(RYR1):c.12319del (p.Ile4107fs) rs754572007
NM_000540.3(RYR1):c.12495_12496insT (p.Ala4166fs) rs1599625856
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.12533G>T (p.Gly4178Val) rs1568576165
NM_000540.3(RYR1):c.12535C>T (p.Arg4179Cys) rs2145831560
NM_000540.3(RYR1):c.12544_12570del (p.Ile4182_Glu4190del) rs1238215145
NM_000540.3(RYR1):c.12590_12591del (p.Ile4196_Ser4197insTer)
NM_000540.3(RYR1):c.12624+1G>A
NM_000540.3(RYR1):c.12652T>C (p.Phe4218Leu) rs1568581720
NM_000540.3(RYR1):c.12700G>A (p.Val4234Met)
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.12729G>C (p.Glu4243Asp) rs1185644472
NM_000540.3(RYR1):c.128A>C (p.Asn43Thr)
NM_000540.3(RYR1):c.12978del (p.Glu4327fs) rs1568582893
NM_000540.3(RYR1):c.13013_13032del (p.Ala4338fs) rs193922856
NM_000540.3(RYR1):c.13033del (p.Ala4345fs) rs2145845399
NM_000540.3(RYR1):c.13041_13066del (p.Ala4348fs)
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys) rs193922748
NM_000540.3(RYR1):c.131G>C (p.Arg44Pro)
NM_000540.3(RYR1):c.13260del (p.Asp4421fs) rs1568583900
NM_000540.3(RYR1):c.13413del (p.Ile4473fs)
NM_000540.3(RYR1):c.13609_13631dup (p.Val4547fs) rs1599641280
NM_000540.3(RYR1):c.13654T>A (p.Phe4552Ile) rs1085307909
NM_000540.3(RYR1):c.13659+2T>A
NM_000540.3(RYR1):c.13660-1G>A
NM_000540.3(RYR1):c.13660-1_13660del
NM_000540.3(RYR1):c.13690C>G (p.Arg4564Gly) rs753208767
NM_000540.3(RYR1):c.13690C>T (p.Arg4564Trp) rs753208767
NM_000540.3(RYR1):c.13702C>G (p.Leu4568Val) rs1599646668
NM_000540.3(RYR1):c.13724A>C (p.Asn4575Thr) rs1568591803
NM_000540.3(RYR1):c.13764del (p.Glu4590fs) rs1555801843
NM_000540.3(RYR1):c.13836G>A (p.Trp4612Ter) rs1568593747
NM_000540.3(RYR1):c.13882_13896dup (p.Met4628_Phe4632dup) rs1555801872
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.13898T>A (p.Leu4633Gln) rs1555801874
NM_000540.3(RYR1):c.13898T>C (p.Leu4633Pro) rs1555801874
NM_000540.3(RYR1):c.13904A>G (p.Glu4635Gly) rs1568593984
NM_000540.3(RYR1):c.13909A>G (p.Thr4637Ala) rs118192166
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.13918A>G (p.Met4640Val) rs756850145
NM_000540.3(RYR1):c.13918A>T (p.Met4640Leu) rs756850145
NM_000540.3(RYR1):c.13919T>G (p.Met4640Arg) rs1568594068
NM_000540.3(RYR1):c.13940T>C (p.Leu4647Pro) rs1555801902
NM_000540.3(RYR1):c.13949T>C (p.Leu4650Pro) rs118192138
NM_000540.3(RYR1):c.13952A>G (p.His4651Arg) rs118192139
NM_000540.3(RYR1):c.13998G>A (p.Lys4666=) rs1599649479
NM_000540.3(RYR1):c.14051T>C (p.Phe4684Ser) rs193922864
NM_000540.3(RYR1):c.14104T>C (p.Trp4702Arg) rs2145874187
NM_000540.3(RYR1):c.14126C>G (p.Thr4709Arg)
NM_000540.3(RYR1):c.14129+1G>T rs142929172
NM_000540.3(RYR1):c.14172+1G>A
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln) rs193922868
NM_000540.3(RYR1):c.1421A>T (p.Gln474Leu) rs2145381188
NM_000540.3(RYR1):c.14227G>A (p.Gly4743Ser) rs2145888340
NM_000540.3(RYR1):c.14285C>T (p.Pro4762Leu)
NM_000540.3(RYR1):c.14339_14340del (p.Lys4780fs)
NM_000540.3(RYR1):c.14364+1G>A rs1974046221
NM_000540.3(RYR1):c.14378T>G (p.Leu4793Arg) rs118192179
NM_000540.3(RYR1):c.14385G>A (p.Trp4795Ter) rs565173276
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.1440+1G>A rs1568445415
NM_000540.3(RYR1):c.1440+2T>G rs1555767403
NM_000540.3(RYR1):c.14411A>G (p.His4804Arg) rs1568604308
NM_000540.3(RYR1):c.14416A>G (p.Asn4806Asp) rs886039586
NM_000540.3(RYR1):c.14421CTT[2] (p.Phe4810del) rs1555803810
NM_000540.3(RYR1):c.14423T>A (p.Phe4808Tyr) rs1274780855
NM_000540.3(RYR1):c.14423T>G (p.Phe4808Cys) rs1274780855
NM_000540.3(RYR1):c.14437C>T (p.His4813Tyr) rs2145895177
NM_000540.3(RYR1):c.14438A>G (p.His4813Arg)
NM_000540.3(RYR1):c.14458G>A (p.Gly4820Arg) rs193922873
NM_000540.3(RYR1):c.14488T>C (p.Ser4830Pro)
NM_000540.3(RYR1):c.14489C>A (p.Ser4830Tyr) rs1555803852
NM_000540.3(RYR1):c.14490dup (p.Val4831fs) rs2145895408
NM_000540.3(RYR1):c.14497C>T (p.His4833Tyr) rs193922876
NM_000540.3(RYR1):c.14512C>G (p.Leu4838Val) rs193922878
NM_000540.3(RYR1):c.14536G>C (p.Ala4846Pro) rs1974146322
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.14545G>T (p.Val4849Phe) rs118192168
NM_000540.3(RYR1):c.14545_14571dup (p.Val4849_Phe4857dup) rs1568605049
NM_000540.3(RYR1):c.14548T>C (p.Tyr4850His) rs2145896491
NM_000540.3(RYR1):c.14555A>G (p.Tyr4852Cys) rs886042826
NM_000540.3(RYR1):c.14558C>T (p.Thr4853Ile) rs1555803922
NM_000540.3(RYR1):c.14570T>A (p.Phe4857Tyr) rs1974148669
NM_000540.3(RYR1):c.14573A>G (p.Asn4858Ser) rs1555803933
NM_000540.3(RYR1):c.14579T>C (p.Phe4860Ser) rs1599665128
NM_000540.3(RYR1):c.14581C>A (p.Arg4861Ser)
NM_000540.3(RYR1):c.14581C>G (p.Arg4861Gly) rs118192181
NM_000540.3(RYR1):c.14591A>C (p.Tyr4864Ser) rs118192146
NM_000540.3(RYR1):c.14592CAA[1] (p.Asn4865del) rs2145896801
NM_000540.3(RYR1):c.14596A>G (p.Lys4866Glu)
NM_000540.3(RYR1):c.14600G>A (p.Ser4867Asn) rs587784373
NM_000540.3(RYR1):c.14642T>C (p.Met4881Thr) rs1568605367
NM_000540.3(RYR1):c.14647-3_14647del rs1568611362
NM_000540.3(RYR1):c.14650T>C (p.Tyr4884His) rs2145912840
NM_000540.3(RYR1):c.14659C>T (p.His4887Tyr) rs118192147
NM_000540.3(RYR1):c.14672G>A (p.Gly4891Asp) rs398123470
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>T (p.Arg4893Leu)
NM_000540.3(RYR1):c.14690G>A (p.Gly4897Asp) rs118192148
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.3(RYR1):c.14693T>G (p.Ile4898Ser)
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.14738A>G (p.Tyr4913Cys) rs1429521079
NM_000540.3(RYR1):c.14759C>T (p.Thr4920Ile) 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.14763C>G (p.Phe4921Leu) rs1974410266
NM_000540.3(RYR1):c.14773GTCATC[1] (p.4925VI[1]) rs193922893
NM_000540.3(RYR1):c.14801A>G (p.Gln4934Arg) rs1568611775
NM_000540.3(RYR1):c.14801A>T (p.Gln4934Leu)
NM_000540.3(RYR1):c.14803G>A (p.Gly4935Ser) rs2145913747
NM_000540.3(RYR1):c.14804-1G>T rs193922894
NM_000540.3(RYR1):c.14807T>G (p.Leu4936Arg) rs1568613061
NM_000540.3(RYR1):c.14809A>G (p.Ile4937Val) rs2145917369
NM_000540.3(RYR1):c.14811C>G (p.Ile4937Met) rs2145917373
NM_000540.3(RYR1):c.14815G>A (p.Asp4939Asn) rs760010175
NM_000540.3(RYR1):c.14815G>T (p.Asp4939Tyr)
NM_000540.3(RYR1):c.14817C>G (p.Asp4939Glu) rs193922895
NM_000540.3(RYR1):c.14822T>G (p.Phe4941Cys) rs1568613113
NM_000540.3(RYR1):c.14868+1G>C rs751692413
NM_000540.3(RYR1):c.14869-2A>G
NM_000540.3(RYR1):c.14904C>A (p.Tyr4968Ter) rs2145918040
NM_000540.3(RYR1):c.14929G>C (p.Glu4977Gln) rs200777598
NM_000540.3(RYR1):c.14938_14939del (p.Thr4980fs) rs1568613455
NM_000540.3(RYR1):c.14970-1G>A
NM_000540.3(RYR1):c.15016G>A (p.Gly5006Ser) rs1568614042
NM_000540.3(RYR1):c.15030T>A (p.Tyr5010Ter) rs1064797243
NM_000540.3(RYR1):c.15047_15048del (p.Gln5016fs) rs1555806119
NM_000540.3(RYR1):c.1565A>G (p.Tyr522Cys) rs118192162
NM_000540.3(RYR1):c.1576+1G>A rs2145393963
NM_000540.3(RYR1):c.1588C>A (p.Arg530Ser) rs757399861
NM_000540.3(RYR1):c.1588C>T (p.Arg530Cys) rs757399861
NM_000540.3(RYR1):c.1597C>A (p.Arg533Ser) rs193922768
NM_000540.3(RYR1):c.1615T>C (p.Phe539Leu) rs193922769
NM_000540.3(RYR1):c.1615T>G (p.Phe539Val) rs193922769
NM_000540.3(RYR1):c.1630G>T (p.Asp544Tyr) rs113812662
NM_000540.3(RYR1):c.164_165+1del
NM_000540.3(RYR1):c.165+1G>A
NM_000540.3(RYR1):c.1654C>T (p.Arg552Trp) rs193922770
NM_000540.3(RYR1):c.166-2A>C
NM_000540.3(RYR1):c.1673-1G>A
NM_000540.3(RYR1):c.177dup (p.Asp60fs) rs756326114
NM_000540.3(RYR1):c.179A>G (p.Asp60Gly) rs1555762532
NM_000540.3(RYR1):c.1835C>A (p.Ala612Asp) rs1600682739
NM_000540.3(RYR1):c.1840C>G (p.Arg614Gly) rs118192172
NM_000540.3(RYR1):c.1859T>A (p.Ile620Asn)
NM_000540.3(RYR1):c.1901C>G (p.Thr634Arg) rs1555769544
NM_000540.3(RYR1):c.1990G>C (p.Glu664Gln) rs1555769818
NM_000540.3(RYR1):c.1993del (p.Glu664_Val665insTer) rs1568451320
NM_000540.3(RYR1):c.2044C>G (p.Arg682Gly) rs776252106
NM_000540.3(RYR1):c.2044C>T (p.Arg682Trp) rs776252106
NM_000540.3(RYR1):c.212C>A (p.Ser71Tyr) rs118192113
NM_000540.3(RYR1):c.2168-1G>A
NM_000540.3(RYR1):c.2195del (p.Pro732fs) rs1568452917
NM_000540.3(RYR1):c.2204_2213del (p.His735fs)
NM_000540.3(RYR1):c.2276A>G (p.Asn759Ser)
NM_000540.3(RYR1):c.2286del (p.Val763fs) rs1967600281
NM_000540.3(RYR1):c.2287G>A (p.Val763Met) rs369947687
NM_000540.3(RYR1):c.2290C>T (p.Gln764Ter) rs371455345
NM_000540.3(RYR1):c.2338dup (p.Val780fs) rs1967603354
NM_000540.3(RYR1):c.2361-1G>C rs113379223
NM_000540.3(RYR1):c.2366G>T (p.Arg789Leu)
NM_000540.3(RYR1):c.2505del (p.Pro836fs) rs797045932
NM_000540.3(RYR1):c.2575C>T (p.Gln859Ter) rs1555770968
NM_000540.3(RYR1):c.2633A>G (p.His878Arg)
NM_000540.3(RYR1):c.2682G>A (p.Pro894=) rs919322708
NM_000540.3(RYR1):c.2683-1G>A rs2145434598
NM_000540.3(RYR1):c.2706del (p.His903fs) rs747409654
NM_000540.3(RYR1):c.2786+2T>G rs1967928524
NM_000540.3(RYR1):c.2792T>C (p.Leu931Pro) rs1600706153
NM_000540.3(RYR1):c.2836G>T (p.Glu946Ter) rs1967997615
NM_000540.3(RYR1):c.2870+1G>A rs765241115
NM_000540.3(RYR1):c.2984G>A (p.Trp995Ter) rs1440262870
NM_000540.3(RYR1):c.3046C>T (p.Arg1016Ter) rs759085500
NM_000540.3(RYR1):c.3166G>C (p.Asp1056His) rs2145447772
NM_000540.3(RYR1):c.3178+1G>A rs1161929108
NM_000540.3(RYR1):c.3178+587A>G
NM_000540.3(RYR1):c.3291C>T (p.Gly1097=) rs1234999215
NM_000540.3(RYR1):c.3451dup (p.Met1151fs) rs2145461642
NM_000540.3(RYR1):c.346-1G>A
NM_000540.3(RYR1):c.3557-10_3562del
NM_000540.3(RYR1):c.3713_3715dup (p.Ser1238dup) rs761789667
NM_000540.3(RYR1):c.3766-1G>A rs2145482463
NM_000540.3(RYR1):c.3799C>A (p.Pro1267Thr) rs564495912
NM_000540.3(RYR1):c.3799C>G (p.Pro1267Ala)
NM_000540.3(RYR1):c.3800C>A (p.Pro1267His) rs150495044
NM_000540.3(RYR1):c.3800C>G (p.Pro1267Arg) rs150495044
NM_000540.3(RYR1):c.3801dup (p.Cys1268fs) rs587784374
NM_000540.3(RYR1):c.3805del (p.Leu1269fs) rs1568469505
NM_000540.3(RYR1):c.3880G>T (p.Val1294Phe) rs1968540857
NM_000540.3(RYR1):c.38T>G (p.Leu13Arg) rs193922744
NM_000540.3(RYR1):c.3964_3982dup (p.Asp1328fs) rs1281542312
NM_000540.3(RYR1):c.4019del (p.Gly1340fs)
NM_000540.3(RYR1):c.4094del (p.Gly1365fs) rs587784375
NM_000540.3(RYR1):c.424+2T>C rs775192689
NM_000540.3(RYR1):c.4294-1G>C
NM_000540.3(RYR1):c.4294-2A>G rs1555777043
NM_000540.3(RYR1):c.4343G>A (p.Trp1448Ter)
NM_000540.3(RYR1):c.4363del (p.Asp1455fs) rs1555777086
NM_000540.3(RYR1):c.4435C>T (p.Gln1479Ter) rs1968813234
NM_000540.3(RYR1):c.4454G>A (p.Ser1485Asn) rs1317036540
NM_000540.3(RYR1):c.4481T>C (p.Val1494Ala) rs767928113
NM_000540.3(RYR1):c.45+1G>A
NM_000540.3(RYR1):c.4590del (p.Asn1531fs) rs1064793254
NM_000540.3(RYR1):c.463C>A (p.Gln155Lys) rs193922750
NM_000540.3(RYR1):c.4707+1G>A rs1568480914
NM_000540.3(RYR1):c.4708-1G>C
NM_000540.3(RYR1):c.4789C>T (p.Gln1597Ter) rs1568481364
NM_000540.3(RYR1):c.4837C>T (p.Gln1613Ter) rs1332371891
NM_000540.3(RYR1):c.4934G>T (p.Arg1645Leu) rs193922778
NM_000540.3(RYR1):c.4935-1G>A
NM_000540.3(RYR1):c.4935-1G>C
NM_000540.3(RYR1):c.4935-2A>T rs1969238474
NM_000540.3(RYR1):c.5053T>C (p.Cys1685Arg)
NM_000540.3(RYR1):c.5053T>G (p.Cys1685Gly)
NM_000540.3(RYR1):c.5054G>A (p.Cys1685Tyr)
NM_000540.3(RYR1):c.5055C>G (p.Cys1685Trp) rs761393058
NM_000540.3(RYR1):c.5119C>T (p.Arg1707Cys)
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.530G>A (p.Arg177His)
NM_000540.3(RYR1):c.533A>G (p.Tyr178Cys) rs193922758
NM_000540.3(RYR1):c.5435T>C (p.Leu1812Pro) rs1969278145
NM_000540.3(RYR1):c.5449del (p.Glu1817fs) rs2145545066
NM_000540.3(RYR1):c.5509_5510del (p.Gln1837fs) rs1555779450
NM_000540.3(RYR1):c.5628GGA[2] (p.Glu1878del) rs371047178
NM_000540.3(RYR1):c.5814+1G>A rs1057519173
NM_000540.3(RYR1):c.5910G>C (p.Gln1970His) rs1555780327
NM_000540.3(RYR1):c.5915A>T (p.Asn1972Ile) rs1377668924
NM_000540.3(RYR1):c.5988C>T (p.Arg1996=) rs193922787
NM_000540.3(RYR1):c.5989G>A (p.Glu1997Lys) rs1366464512
NM_000540.3(RYR1):c.6127+1G>A rs1283302989
NM_000540.3(RYR1):c.6220AAG[2] (p.Lys2076del)
NM_000540.3(RYR1):c.6349G>C (p.Val2117Leu) rs193922788
NM_000540.3(RYR1):c.6350T>C (p.Val2117Ala)
NM_000540.3(RYR1):c.6353G>C (p.Arg2118Pro) rs201649680
NM_000540.3(RYR1):c.6387C>G (p.Asp2129Glu) rs117886618
NM_000540.3(RYR1):c.643G>A (p.Gly215Arg) rs1393197844
NM_000540.3(RYR1):c.6487C>G (p.Arg2163Gly)
NM_000540.3(RYR1):c.6488G>A (p.Arg2163His) rs118192163
NM_000540.3(RYR1):c.6488G>C (p.Arg2163Pro) rs118192163
NM_000540.3(RYR1):c.6488G>T (p.Arg2163Leu) rs118192163
NM_000540.3(RYR1):c.6500T>G (p.Ile2167Ser)
NM_000540.3(RYR1):c.6502G>C (p.Val2168Leu)
NM_000540.3(RYR1):c.6566_6567del (p.Lys2189fs) rs1064794845
NM_000540.3(RYR1):c.6610C>T (p.His2204Tyr) rs745432757
NM_000540.3(RYR1):c.6612C>G (p.His2204Gln) rs141646642
NM_000540.3(RYR1):c.6619del (p.Val2207fs) rs2145585588
NM_000540.3(RYR1):c.6628G>T (p.Val2210Phe) rs193922792
NM_000540.3(RYR1):c.6631A>C (p.Met2211Leu) rs1131691876
NM_000540.3(RYR1):c.6663+1G>A
NM_000540.3(RYR1):c.6663+2T>C
NM_000540.3(RYR1):c.6701G>A (p.Arg2234His)
NM_000540.3(RYR1):c.6707T>G (p.Leu2236Arg) rs1969830618
NM_000540.3(RYR1):c.6710G>A (p.Cys2237Tyr) rs2145586397
NM_000540.3(RYR1):c.6796+1G>A rs2145586850
NM_000540.3(RYR1):c.6814C>T (p.Pro2272Ser) rs777460436
NM_000540.3(RYR1):c.6856C>G (p.Leu2286Val)
NM_000540.3(RYR1):c.685T>C (p.Cys229Arg) rs1600649879
NM_000540.3(RYR1):c.6891+2T>C
NM_000540.3(RYR1):c.7006C>G (p.Arg2336Gly)
NM_000540.3(RYR1):c.7006C>T (p.Arg2336Cys) rs1218605372
NM_000540.3(RYR1):c.7007G>T (p.Arg2336Leu)
NM_000540.3(RYR1):c.7035C>A (p.Ser2345Arg) rs1448949048
NM_000540.3(RYR1):c.7035C>G (p.Ser2345Arg) rs1448949048
NM_000540.3(RYR1):c.7039GAG[1] (p.Glu2348del) rs121918596
NM_000540.3(RYR1):c.7051A>C (p.Asn2351His)
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.7090T>G (p.Phe2364Val) rs193922805
NM_000540.3(RYR1):c.7123G>A (p.Gly2375Arg) rs1568501059
NM_000540.3(RYR1):c.7123G>C (p.Gly2375Arg) rs1568501059
NM_000540.3(RYR1):c.7124G>A (p.Gly2375Glu) rs193922807
NM_000540.3(RYR1):c.7205_7214+14del
NM_000540.3(RYR1):c.7215-1G>T
NM_000540.3(RYR1):c.7233del (p.Glu2412fs) rs2145601896
NM_000540.3(RYR1):c.7261G>A (p.Ala2421Thr)
NM_000540.3(RYR1):c.7291G>T (p.Asp2431Tyr) rs193922810
NM_000540.3(RYR1):c.7298T>C (p.Leu2433Pro) rs1600822174
NM_000540.3(RYR1):c.7303C>T (p.Arg2435Cys) rs1970033550
NM_000540.3(RYR1):c.7304G>T (p.Arg2435Leu) rs28933396
NM_000540.3(RYR1):c.7310C>T (p.Ala2437Val) rs193922812
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.7358T>C (p.Ile2453Thr) rs118192123
NM_000540.3(RYR1):c.7360C>A (p.Arg2454Ser)
NM_000540.3(RYR1):c.7373G>T (p.Arg2458Leu) rs121918594
NM_000540.3(RYR1):c.742G>A (p.Gly248Arg) rs1801086
NM_000540.3(RYR1):c.742G>T (p.Gly248Trp) rs1801086
NM_000540.3(RYR1):c.7444+2T>C
NM_000540.3(RYR1):c.7463_7475del (p.Pro2488fs) rs794727683
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.7543C>T (p.Gln2515Ter) rs1568503046
NM_000540.3(RYR1):c.7615-1G>T rs1317181118
NM_000540.3(RYR1):c.7770_7786dup (p.Thr2596fs) rs2145614578
NM_000540.3(RYR1):c.7775dup (p.Arg2593fs) rs1281875506
NM_000540.3(RYR1):c.7777C>G (p.Arg2593Gly) rs756685891
NM_000540.3(RYR1):c.7835+1G>A rs1057524858
NM_000540.3(RYR1):c.7835+2T>G rs1970195394
NM_000540.3(RYR1):c.7836-1G>A rs1568507354
NM_000540.3(RYR1):c.7836-2A>G
NM_000540.3(RYR1):c.7856T>C (p.Leu2619Pro) rs1263237391
NM_000540.3(RYR1):c.7926+2T>C rs1555784801
NM_000540.3(RYR1):c.7927-1G>T
NM_000540.3(RYR1):c.7954dup (p.Trp2652fs) rs1600842678
NM_000540.3(RYR1):c.8018del (p.His2673fs) rs1568509739
NM_000540.3(RYR1):c.8024C>A (p.Thr2675Lys) rs1600843056
NM_000540.3(RYR1):c.8067+1G>A
NM_000540.3(RYR1):c.8067+1G>T
NM_000540.3(RYR1):c.8136dup (p.Asp2713fs) rs761483896
NM_000540.3(RYR1):c.8196del (p.Gly2733fs) rs1600844997
NM_000540.3(RYR1):c.8232-1G>A
NM_000540.3(RYR1):c.8617-2A>G
NM_000540.3(RYR1):c.8692+1G>T rs1057523844
NM_000540.3(RYR1):c.8693-1G>A rs1568514017
NM_000540.3(RYR1):c.8922dup (p.Ala2975fs) rs2145643810
NM_000540.3(RYR1):c.8929_8932+4delinsAAGCGG rs1555786205
NM_000540.3(RYR1):c.8953C>T (p.Arg2985Ter)
NM_000540.3(RYR1):c.9001-2A>G rs774119942
NM_000540.3(RYR1):c.9130T>C (p.Cys3044Arg) rs1970727401
NM_000540.3(RYR1):c.9221C>T (p.Ser3074Phe)
NM_000540.3(RYR1):c.9234-1G>C
NM_000540.3(RYR1):c.9310G>A (p.Glu3104Lys) rs193922832
NM_000540.3(RYR1):c.9345del (p.Ser3116fs) rs2145663047
NM_000540.3(RYR1):c.9473-2A>G
NM_000540.3(RYR1):c.9499C>T (p.Arg3167Ter) rs1171637302
NM_000540.3(RYR1):c.958-2A>G
NM_000540.3(RYR1):c.958G>A (p.Glu320Lys) rs1568440962
NM_000540.3(RYR1):c.9633C>A (p.Asn3211Lys) rs978984063
NM_000540.3(RYR1):c.9686-1del
NM_000540.3(RYR1):c.9686-7_9705del rs2145681468
NM_000540.3(RYR1):c.97A>G (p.Lys33Glu) rs193922746
NM_000540.3(RYR1):c.9827dup (p.Met3276fs)
NM_000540.3(RYR1):c.982C>T (p.Arg328Trp) rs193922762
NM_000540.3(RYR1):c.9850T>C (p.Trp3284Arg) rs1555788577
NM_000540.3(RYR1):c.9905dup (p.Pro3303fs) rs749656679
NM_000540.3(RYR1):c.9910T>C (p.Cys3304Arg)
NM_000540.3(RYR1):c.9978C>A (p.Asn3326Lys) rs367543057
NM_000540.3(RYR1):c.9983del (p.Gly3328fs) rs2145682923
NM_000540.3(RYR1):c.[1834G>C];[2045G>A]

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