ClinVar Miner

List of variants in gene RYR1 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 623
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HGVS dbSNP
NC_000019.10:g.38499019_38499023del
NM_000540.2(RYR1):c.-298A>T
NM_000540.2(RYR1):c.-431C>A
NM_000540.2(RYR1):c.10019-13C>T rs145359160
NM_000540.2(RYR1):c.10019-253C>T
NM_000540.2(RYR1):c.10019-269T>G
NM_000540.2(RYR1):c.10048C>A (p.Arg3350=) rs200355885
NM_000540.2(RYR1):c.10119G>A (p.Val3373=) rs140689610
NM_000540.2(RYR1):c.10147G>A (p.Ala3383Thr) rs747790775
NM_000540.2(RYR1):c.10154C>T (p.Ala3385Val) rs772566556
NM_000540.2(RYR1):c.10188C>T (p.Asp3396=) rs2229145
NM_000540.2(RYR1):c.10196C>T (p.Ser3399Phe) rs1085307803
NM_000540.2(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058
NM_000540.2(RYR1):c.10218C>T (p.Tyr3406=) rs41274330
NM_000540.2(RYR1):c.10219G>A (p.Ala3407Thr) rs143533100
NM_000540.2(RYR1):c.10259+10G>C rs187018043
NM_000540.2(RYR1):c.10259+17T>C rs756915119
NM_000540.2(RYR1):c.10259+7G>A rs143752962
NM_000540.2(RYR1):c.10307G>A (p.Arg3436Lys) rs574486124
NM_000540.2(RYR1):c.10347+1G>A rs111436401
NM_000540.2(RYR1):c.1035C>G (p.Cys345Trp) rs1170304013
NM_000540.2(RYR1):c.10443G>A (p.Ala3481=)
NM_000540.2(RYR1):c.10578G>A (p.Ala3526=) rs368360689
NM_000540.2(RYR1):c.10594C>T (p.Leu3532Phe) rs1131691407
NM_000540.2(RYR1):c.10616G>A (p.Arg3539His) rs143987857
NM_000540.2(RYR1):c.10627-255T>C rs2254484
NM_000540.2(RYR1):c.10648C>T (p.Arg3550Trp) rs536304635
NM_000540.2(RYR1):c.10687-10C>T rs77592501
NM_000540.2(RYR1):c.10687-7C>T rs2960354
NM_000540.2(RYR1):c.10729C>T (p.Arg3577Trp) rs538497899
NM_000540.2(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273
NM_000540.2(RYR1):c.10749_10753del (p.Glu3584fs) rs1412691915
NM_000540.2(RYR1):c.1077T>C (p.Ala359=) rs10406027
NM_000540.2(RYR1):c.10825-11C>A rs201114660
NM_000540.2(RYR1):c.10908C>T (p.Phe3636=)
NM_000540.2(RYR1):c.10917G>A (p.Thr3639=) rs371952058
NM_000540.2(RYR1):c.10937+39G>A rs2945049
NM_000540.2(RYR1):c.10938-12_10938-11delinsAT
NM_000540.2(RYR1):c.10938-17A>G rs181147531
NM_000540.2(RYR1):c.10938-9C>T rs201976186
NM_000540.2(RYR1):c.10941C>G (p.His3647Gln) rs114351116
NM_000540.2(RYR1):c.11034+15G>A rs552725260
NM_000540.2(RYR1):c.11034+20G>T rs186460831
NM_000540.2(RYR1):c.11061_11063delGGA rs760784102
NM_000540.2(RYR1):c.1108G>A (p.Val370Met) rs537344365
NM_000540.2(RYR1):c.11141+252C>T
NM_000540.2(RYR1):c.11141+7A>G rs78350770
NM_000540.2(RYR1):c.1122+52T>C rs4476278
NM_000540.2(RYR1):c.1123-11C>T rs3745845
NM_000540.2(RYR1):c.1123-156G>A
NM_000540.2(RYR1):c.1123-318C>T
NM_000540.2(RYR1):c.11260-13C>T rs540088883
NM_000540.2(RYR1):c.11260-19T>G rs4802583
NM_000540.2(RYR1):c.11266C>G (p.Gln3756Glu) rs4802584
NM_000540.2(RYR1):c.11315G>A (p.Arg3772Gln) rs193922839
NM_000540.2(RYR1):c.11321C>T (p.Ala3774Val) rs146361173
NM_000540.2(RYR1):c.11360-9T>A rs150187840
NM_000540.2(RYR1):c.11439+9G>A rs369650355
NM_000540.2(RYR1):c.11541G>A (p.Glu3847=) rs1386408853
NM_000540.2(RYR1):c.11547G>A (p.Gln3849=) rs142518033
NM_000540.2(RYR1):c.11590+1G>T rs113928116
NM_000540.2(RYR1):c.11599C>T (p.Arg3867Cys) rs138593495
NM_000540.2(RYR1):c.11609-13C>T rs374885508
NM_000540.2(RYR1):c.11625G>A (p.Ala3875=) rs61729397
NM_000540.2(RYR1):c.11689+159T>C
NM_000540.2(RYR1):c.11689+218T>C
NM_000540.2(RYR1):c.11691T>C (p.Asp3897=) rs201588544
NM_000540.2(RYR1):c.11754T>A (p.Thr3918=) rs45613041
NM_000540.2(RYR1):c.11778+3G>C rs758215068
NM_000540.2(RYR1):c.11778+9G>A rs371213685
NM_000540.2(RYR1):c.11878G>C (p.Val3960Leu) rs1064796578
NM_000540.2(RYR1):c.11908-14A>G rs2292799
NM_000540.2(RYR1):c.11908-2A>T rs763146574
NM_000540.2(RYR1):c.11941C>T (p.His3981Tyr) rs148772854
NM_000540.2(RYR1):c.11985C>T (p.Phe3995=) rs536629932
NM_000540.2(RYR1):c.12012+11C>T rs377621703
NM_000540.2(RYR1):c.12012+18C>A rs116792069
NM_000540.2(RYR1):c.12012+19T>C rs181590606
NM_000540.2(RYR1):c.12013-171C>A
NM_000540.2(RYR1):c.12094+11A>G rs73933018
NM_000540.2(RYR1):c.12095-129G>C rs2945046
NM_000540.2(RYR1):c.12095-158G>A
NM_000540.2(RYR1):c.12110del (p.Gly4037fs) rs1555795308
NM_000540.2(RYR1):c.12203A>G (p.Lys4068Arg) rs114009747
NM_000540.2(RYR1):c.12250C>T (p.Arg4084Cys) rs755879946
NM_000540.2(RYR1):c.12283-248T>G
NM_000540.2(RYR1):c.12283-7C>T rs143861818
NM_000540.2(RYR1):c.12319del (p.Ile4107fs) rs754572007
NM_000540.2(RYR1):c.123C>T (p.Phe41=) rs753672925
NM_000540.2(RYR1):c.12407G>A (p.Arg4136His) rs572373150
NM_000540.2(RYR1):c.1244+189G>A
NM_000540.2(RYR1):c.12449C>T (p.Ser4150Leu) rs143843083
NM_000540.2(RYR1):c.12551G>C (p.Gly4184Ala) rs1555798622
NM_000540.2(RYR1):c.12553G>A (p.Ala4185Thr) rs151119428
NM_000540.2(RYR1):c.12575T>C (p.Ile4192Thr) rs1555798659
NM_000540.2(RYR1):c.12588C>T (p.Ile4196=) rs61739895
NM_000540.2(RYR1):c.12608A>G (p.Gln4203Arg) rs757438220
NM_000540.2(RYR1):c.12613G>T (p.Glu4205Ter) rs1361451153
NM_000540.2(RYR1):c.12624+14C>T rs75797287
NM_000540.2(RYR1):c.12624+61C>G
NM_000540.2(RYR1):c.12625-163G>A
NM_000540.2(RYR1):c.12625-187T>C
NM_000540.2(RYR1):c.12625-20T>C rs1555799588
NM_000540.2(RYR1):c.12625-256C>T
NM_000540.2(RYR1):c.12625-295C>T
NM_000540.2(RYR1):c.12672C>T (p.Gly4224=) rs141678912
NM_000540.2(RYR1):c.12741C>T (p.Ala4247=) rs80039127
NM_000540.2(RYR1):c.12749T>C (p.Ile4250Thr) rs1316713022
NM_000540.2(RYR1):c.12841G>A (p.Gly4281Arg) rs1131691504
NM_000540.2(RYR1):c.12860_12869delinsT (p.Ala4287_Ala4290delinsVal) rs796065337
NM_000540.2(RYR1):c.12879G>C (p.Ala4293=) rs193922854
NM_000540.2(RYR1):c.12880A>G (p.Thr4294Ala) rs1003914966
NM_000540.2(RYR1):c.12881C>T (p.Thr4294Met) rs587784372
NM_000540.2(RYR1):c.12884C>T (p.Ala4295Val) rs193922855
NM_000540.2(RYR1):c.12947_12958dup (p.Arg4316_Arg4319dup) rs1455190973
NM_000540.2(RYR1):c.12956G>A (p.Arg4319Gln) rs539194350
NM_000540.2(RYR1):c.12984G>A (p.Ala4328=) rs1057522670
NM_000540.2(RYR1):c.12990C>T (p.Thr4330=) rs184450380
NM_000540.2(RYR1):c.13036G>A (p.Ala4346Thr) rs1296263427
NM_000540.2(RYR1):c.13062G>A (p.Ala4354=) rs1285864293
NM_000540.2(RYR1):c.1311C>T (p.Ile437=) rs777029846
NM_000540.2(RYR1):c.13190C>G (p.Ala4397Gly) rs1057520588
NM_000540.2(RYR1):c.131G>A (p.Arg44His) rs139161723
NM_000540.2(RYR1):c.13263C>T (p.Asp4421=) rs372411922
NM_000540.2(RYR1):c.13269G>A (p.Glu4423=) rs896569937
NM_000540.2(RYR1):c.13317C>T (p.Ala4439=) rs113579185
NM_000540.2(RYR1):c.13438-18T>C rs1555800500
NM_000540.2(RYR1):c.13464G>A (p.Pro4488=) rs10405232
NM_000540.2(RYR1):c.13502C>T (p.Pro4501Leu) rs73933023
NM_000540.2(RYR1):c.13503G>A (p.Pro4501=) rs2960319
NM_000540.2(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.2(RYR1):c.13514+65C>T
NM_000540.2(RYR1):c.13514+77C>T rs10405261
NM_000540.2(RYR1):c.13519G>A (p.Glu4507Lys) rs978180266
NM_000540.2(RYR1):c.13525_13531dup (p.Lys4511fs) rs928989953
NM_000540.2(RYR1):c.13568A>G (p.Lys4523Arg) rs762657816
NM_000540.2(RYR1):c.13617C>T (p.Gly4539=) rs2302296
NM_000540.2(RYR1):c.13654T>A (p.Phe4552Ile) rs1085307909
NM_000540.2(RYR1):c.13660-10T>C rs188836987
NM_000540.2(RYR1):c.13660-263C>T
NM_000540.2(RYR1):c.13671C>G (p.Ser4557=) rs35959206
NM_000540.2(RYR1):c.13764del (p.Glu4590fs) rs1555801843
NM_000540.2(RYR1):c.13773C>T (p.Asp4591=) rs111578044
NM_000540.2(RYR1):c.13847C>A (p.Ala4616Asp) rs59468283
NM_000540.2(RYR1):c.13863G>A (p.Glu4621=) rs140750876
NM_000540.2(RYR1):c.13867G>A (p.Asp4623Asn) rs547709829
NM_000540.2(RYR1):c.13909A>G (p.Thr4637Ala) rs118192166
NM_000540.2(RYR1):c.13926C>T (p.Pro4642=) rs559685703
NM_000540.2(RYR1):c.13998+116C>T
NM_000540.2(RYR1):c.1404_1412del (p.Ser469_Arg471del) rs1555767373
NM_000540.2(RYR1):c.14070G>A (p.Thr4690=) rs113058779
NM_000540.2(RYR1):c.14091C>T (p.Asp4697=) rs138616455
NM_000540.2(RYR1):c.14129+13C>T rs368032372
NM_000540.2(RYR1):c.14129+1G>A rs142929172
NM_000540.2(RYR1):c.14130-13T>C rs771833385
NM_000540.2(RYR1):c.14130-8C>G rs140808099
NM_000540.2(RYR1):c.14130-9T>G rs191894192
NM_000540.2(RYR1):c.1415A>G (p.Asn472Ser) rs1057518361
NM_000540.2(RYR1):c.1418G>A (p.Arg473His) rs538087438
NM_000540.2(RYR1):c.14210G>A (p.Arg4737Gln) rs193922868
NM_000540.2(RYR1):c.14256A>C (p.Thr4752=) rs1468571
NM_000540.2(RYR1):c.14270G>A (p.Arg4757His) rs768360593
NM_000540.2(RYR1):c.14286G>A (p.Pro4762=) rs541627923
NM_000540.2(RYR1):c.14304-11C>T rs374065822
NM_000540.2(RYR1):c.14304-6C>A rs794728693
NM_000540.2(RYR1):c.14343C>T (p.Phe4781=) rs772641878
NM_000540.2(RYR1):c.14344G>A (p.Gly4782Arg) rs746538672
NM_000540.2(RYR1):c.14365-16C>T rs1404378284
NM_000540.2(RYR1):c.1440+199G>A
NM_000540.2(RYR1):c.1440+296G>T
NM_000540.2(RYR1):c.1440+2T>G rs1555767403
NM_000540.2(RYR1):c.1440+74G>A rs12460768
NM_000540.2(RYR1):c.1441-235A>G
NM_000540.2(RYR1):c.1441-24T>C rs7254832
NM_000540.2(RYR1):c.14416A>G (p.Asn4806Asp) rs886039586
NM_000540.2(RYR1):c.14421_14423CTT[2] (p.Phe4810del) rs1555803810
NM_000540.2(RYR1):c.14422_14423inv (p.Phe4808Asn)
NM_000540.2(RYR1):c.14451C>T (p.Ile4817=) rs200442804
NM_000540.2(RYR1):c.14495C>A (p.Thr4832Asn) rs1057520711
NM_000540.2(RYR1):c.14505G>A (p.Gly4835=) rs118126378
NM_000540.2(RYR1):c.14511+8G>A rs748627354
NM_000540.2(RYR1):c.14512-10C>T
NM_000540.2(RYR1):c.14512-1G>A rs1064793932
NM_000540.2(RYR1):c.14518A>T (p.Met4840Leu) rs933599635
NM_000540.2(RYR1):c.14523C>T (p.Thr4841=) rs552223275
NM_000540.2(RYR1):c.14538G>C (p.Ala4846=) rs763954439
NM_000540.2(RYR1):c.1453A>G (p.Met485Val) rs147723844
NM_000540.2(RYR1):c.14545G>A (p.Val4849Ile) rs118192168
NM_000540.2(RYR1):c.14552T>C (p.Leu4851Pro) rs1085307631
NM_000540.2(RYR1):c.14573A>G (p.Asn4858Ser) rs1555803933
NM_000540.2(RYR1):c.14581C>T (p.Arg4861Cys) rs118192181
NM_000540.2(RYR1):c.14582G>A (p.Arg4861His) rs63749869
NM_000540.2(RYR1):c.14589C>T (p.Phe4863=) rs146072491
NM_000540.2(RYR1):c.14616_14621dup (p.Glu4872_Pro4873dup) rs1555804000
NM_000540.2(RYR1):c.14645C>T rs193922884
NM_000540.2(RYR1):c.14670G>C (p.Val4890=) rs773080803
NM_000540.2(RYR1):c.14672G>A (p.Gly4891Asp) rs398123470
NM_000540.2(RYR1):c.14678G>A (p.Arg4893Gln) rs118192151
NM_000540.2(RYR1):c.14718G>A (p.Ala4906=)
NM_000540.2(RYR1):c.14761_14763TTC[3] (p.Phe4924del) rs1064794572
NM_000540.2(RYR1):c.14761_14763TTC[5] (p.Phe4924dup) rs1064794572
NM_000540.2(RYR1):c.14815G>A (p.Asp4939Asn) rs760010175
NM_000540.2(RYR1):c.14818G>A (p.Ala4940Thr) rs118192158
NM_000540.2(RYR1):c.14929G>C (p.Glu4977Gln) rs200777598
NM_000540.2(RYR1):c.14940G>A (p.Thr4980=) rs765570755
NM_000540.2(RYR1):c.14969+16G>A rs145776846
NM_000540.2(RYR1):c.14969+32G>C rs113102243
NM_000540.2(RYR1):c.14969+72C>T
NM_000540.2(RYR1):c.15021+37G>T rs73032657
NM_000540.2(RYR1):c.15022-14A>G rs1355487795
NM_000540.2(RYR1):c.150C>G (p.Pro50=) rs554528443
NM_000540.2(RYR1):c.1561C>T (p.Leu521Phe) rs750009277
NM_000540.2(RYR1):c.1577-6C>G rs61586345
NM_000540.2(RYR1):c.162G>A (p.Ala54=) rs769042961
NM_000540.2(RYR1):c.1668G>A (p.Ser556=) rs2288888
NM_000540.2(RYR1):c.1672+29G>C rs2288889
NM_000540.2(RYR1):c.1673-11C>T rs1057524149
NM_000540.2(RYR1):c.1735G>A (p.Glu579Lys) rs753907367
NM_000540.2(RYR1):c.1739_1742dup (p.His581fs) rs193922771
NM_000540.2(RYR1):c.1744A>G (p.Ile582Val) rs1131691591
NM_000540.2(RYR1):c.175C>T (p.Pro59Ser) rs1555762521
NM_000540.2(RYR1):c.1791+14C>T rs376723537
NM_000540.2(RYR1):c.1792G>A (p.Val598Ile) rs930876441
NM_000540.2(RYR1):c.1825A>G (p.Asn609Asp) rs1131691719
NM_000540.2(RYR1):c.1840C>T (p.Arg614Cys) rs118192172
NM_000540.2(RYR1):c.1861A>G (p.Thr621Ala) rs794728694
NM_000540.2(RYR1):c.1909A>G (p.Ile637Val) rs567084532
NM_000540.2(RYR1):c.1923C>G (p.Thr641=) rs116591968
NM_000540.2(RYR1):c.1925+150C>G
NM_000540.2(RYR1):c.1925+86T>C rs2071085
NM_000540.2(RYR1):c.1926-18G>C rs774226414
NM_000540.2(RYR1):c.1936A>C (p.Asn646His) rs1064796780
NM_000540.2(RYR1):c.2004C>T (p.Asp668=) rs78835441
NM_000540.2(RYR1):c.2091C>T (p.Ala697=) rs138704724
NM_000540.2(RYR1):c.2107G>A (p.Gly703Ser) rs773211015
NM_000540.2(RYR1):c.2121C>A (p.Gly707=) rs146104858
NM_000540.2(RYR1):c.2122G>A (p.Asp708Asn) rs138874610
NM_000540.2(RYR1):c.2167+170C>T
NM_000540.2(RYR1):c.2167+31C>G rs2071086
NM_000540.2(RYR1):c.2168-281C>T
NM_000540.2(RYR1):c.2168-57T>G rs4802474
NM_000540.2(RYR1):c.216G>T (p.Leu72=) rs113389877
NM_000540.2(RYR1):c.2223C>T (p.Asp741=) rs150831055
NM_000540.2(RYR1):c.2241G>A (p.Leu747=) rs34097444
NM_000540.2(RYR1):c.2275A>G (p.Asn759Asp) rs147320363
NM_000540.2(RYR1):c.2286C>T (p.Pro762=) rs3745847
NM_000540.2(RYR1):c.2292G>A (p.Gln764=) rs776172759
NM_000540.2(RYR1):c.2360+111A>G
NM_000540.2(RYR1):c.2361-1G>C rs113379223
NM_000540.2(RYR1):c.2361-68C>T rs2304147
NM_000540.2(RYR1):c.2365C>T (p.Arg789Trp) rs765445445
NM_000540.2(RYR1):c.2411C>T (p.Pro804Leu) rs1057524519
NM_000540.2(RYR1):c.2415T>C (p.Pro805=) rs141881325
NM_000540.2(RYR1):c.2456G>A (p.Arg819Gln) rs752831432
NM_000540.2(RYR1):c.251C>G (p.Thr84Arg) rs186983396
NM_000540.2(RYR1):c.2544C>T (p.Thr848=) rs140374285
NM_000540.2(RYR1):c.2578-222G>T
NM_000540.2(RYR1):c.2578-67A>G
NM_000540.2(RYR1):c.2583_2586delinsGCT (p.Pro863fs) rs1555772199
NM_000540.2(RYR1):c.2590C>T (p.Pro864Ser) rs1131691920
NM_000540.2(RYR1):c.2601G>A (p.Glu867=) rs762533729
NM_000540.2(RYR1):c.2603G>A (p.Arg868His) rs750938678
NM_000540.2(RYR1):c.2622G>A (p.Ala874=) rs149381996
NM_000540.2(RYR1):c.264C>T (p.Gly88=) rs190919088
NM_000540.2(RYR1):c.2676C>T (p.Tyr892=) rs375402078
NM_000540.2(RYR1):c.2677G>A (p.Gly893Ser) rs147336515
NM_000540.2(RYR1):c.2682+31C>T
NM_000540.2(RYR1):c.2682+7G>A rs201498416
NM_000540.2(RYR1):c.2682G>A (p.Pro894=) rs919322708
NM_000540.2(RYR1):c.270+322A>C
NM_000540.2(RYR1):c.2706del (p.His903fs) rs747409654
NM_000540.2(RYR1):c.271-148A>G
NM_000540.2(RYR1):c.271-293A>G
NM_000540.2(RYR1):c.271-7C>G rs192495718
NM_000540.2(RYR1):c.2786+198G>A
NM_000540.2(RYR1):c.2786+247C>T
NM_000540.2(RYR1):c.2787-16A>G rs998030731
NM_000540.2(RYR1):c.2787-41C>G rs144985735
NM_000540.2(RYR1):c.2797G>A (p.Ala933Thr) rs148623597
NM_000540.2(RYR1):c.282C>T (p.Gly94=)
NM_000540.2(RYR1):c.2870+221G>A
NM_000540.2(RYR1):c.2871-5C>T rs45585535
NM_000540.2(RYR1):c.2919C>T (p.His973=) rs139363830
NM_000540.2(RYR1):c.2923C>T (p.Arg975Trp) rs371278145
NM_000540.2(RYR1):c.2933C>T (p.Pro978Leu) rs200124278
NM_000540.2(RYR1):c.2943G>A (p.Thr981=) rs2228069
NM_000540.2(RYR1):c.2979C>T (p.Asn993=) rs2228070
NM_000540.2(RYR1):c.297G>A (p.Thr99=) rs144241486
NM_000540.2(RYR1):c.2996G>A (p.Arg999His) rs180714609
NM_000540.2(RYR1):c.3021C>T (p.Ser1007=) rs143891703
NM_000540.2(RYR1):c.3042G>A (p.Ala1014=) rs2228074
NM_000540.2(RYR1):c.3111C>T (p.Ser1037=) rs145434723
NM_000540.2(RYR1):c.3157G>A (p.Glu1053Lys) rs746198645
NM_000540.2(RYR1):c.328C>T (p.His110Tyr) rs767777113
NM_000540.2(RYR1):c.3301G>A (p.Val1101Met) rs145088074
NM_000540.2(RYR1):c.3312G>A (p.Ala1104=) rs1057521916
NM_000540.2(RYR1):c.3326G>A (p.Arg1109Lys) rs35719391
NM_000540.2(RYR1):c.3362A>G (p.Tyr1121Cys) rs756138074
NM_000540.2(RYR1):c.3381+5G>A rs199691436
NM_000540.2(RYR1):c.3420C>G (p.Arg1140=) rs201599911
NM_000540.2(RYR1):c.3420C>T (p.Arg1140=) rs201599911
NM_000540.2(RYR1):c.3441C>T (p.Val1147=) rs1057523511
NM_000540.2(RYR1):c.3456C>T (p.Ile1152=) rs11083462
NM_000540.2(RYR1):c.3505A>C (p.Met1169Leu) rs139069946
NM_000540.2(RYR1):c.3556+67C>T
NM_000540.2(RYR1):c.3557-6C>T rs139849689
NM_000540.2(RYR1):c.3618C>T (p.Asp1206=) rs191970833
NM_000540.2(RYR1):c.3751C>A (p.His1251Asn) rs943777976
NM_000540.2(RYR1):c.3765+154C>G
NM_000540.2(RYR1):c.3765+182C>T
NM_000540.2(RYR1):c.3765+20A>G rs368304712
NM_000540.2(RYR1):c.3778G>A (p.Asp1260Asn) rs1064796577
NM_000540.2(RYR1):c.3801dup (p.Cys1268fs) rs587784374
NM_000540.2(RYR1):c.3834C>T (p.Ser1278=) rs1406967617
NM_000540.2(RYR1):c.3858T>C (p.Leu1286=) rs16972636
NM_000540.2(RYR1):c.3876C>A (p.Leu1292=) rs143750836
NM_000540.2(RYR1):c.3924G>C (p.Pro1308=) rs144350050
NM_000540.2(RYR1):c.3964_3982dup (p.Asp1328fs) rs1281542312
NM_000540.2(RYR1):c.3972G>A (p.Ala1324=) rs200451188
NM_000540.2(RYR1):c.4024A>G (p.Ser1342Gly) rs34694816
NM_000540.2(RYR1):c.4038C>A (p.Asn1346Lys) rs777049924
NM_000540.2(RYR1):c.4055C>G (p.Ala1352Gly) rs112105381
NM_000540.2(RYR1):c.4071C>T (p.Pro1357=) rs375709463
NM_000540.2(RYR1):c.4074G>A (p.Gly1358=) rs372178862
NM_000540.2(RYR1):c.4088C>T (p.Ala1363Val) rs774603798
NM_000540.2(RYR1):c.4094del (p.Gly1365fs) rs587784375
NM_000540.2(RYR1):c.4107C>T (p.Pro1369=) rs11882640
NM_000540.2(RYR1):c.4160+114T>G
NM_000540.2(RYR1):c.4161-6T>C rs55845760
NM_000540.2(RYR1):c.4161-74G>T
NM_000540.2(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390
NM_000540.2(RYR1):c.424+159C>G
NM_000540.2(RYR1):c.425-19A>G rs193169917
NM_000540.2(RYR1):c.4259G>A (p.Arg1420His) rs150499158
NM_000540.2(RYR1):c.4293+121T>C
NM_000540.2(RYR1):c.4293+166T>C
NM_000540.2(RYR1):c.4293+199A>G
NM_000540.2(RYR1):c.4293+9C>T rs753826434
NM_000540.2(RYR1):c.4294-320T>G
NM_000540.2(RYR1):c.4294-4C>T rs368108496
NM_000540.2(RYR1):c.4346C>T (p.Ala1449Val) rs775455157
NM_000540.2(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266
NM_000540.2(RYR1):c.4416G>A (p.Thr1472=) rs756225550
NM_000540.2(RYR1):c.4443C>T (p.Asn1481=) rs141317474
NM_000540.2(RYR1):c.4454+106T>C
NM_000540.2(RYR1):c.4454+29G>A rs7258503
NM_000540.2(RYR1):c.4454+49G>C
NM_000540.2(RYR1):c.4454+5C>T rs374116226
NM_000540.2(RYR1):c.4455-135T>G
NM_000540.2(RYR1):c.4455-154C>T
NM_000540.2(RYR1):c.4455-17del rs766608487
NM_000540.2(RYR1):c.4485_4500del (p.Val1494_Trp1495insTer) rs886041511
NM_000540.2(RYR1):c.45+300T>C rs919781
NM_000540.2(RYR1):c.4590del (p.Asn1531fs) rs1064793254
NM_000540.2(RYR1):c.4620+13C>T rs201971363
NM_000540.2(RYR1):c.4620+256C>T
NM_000540.2(RYR1):c.4621-78C>T
NM_000540.2(RYR1):c.4672C>T (p.Gln1558Ter) rs1064793717
NM_000540.2(RYR1):c.4677C>T (p.Asn1559=) rs186329476
NM_000540.2(RYR1):c.4682T>A (p.Ile1561Asn) rs1057518453
NM_000540.2(RYR1):c.4717C>T (p.Pro1573Ser) rs1131691497
NM_000540.2(RYR1):c.4719G>A (p.Pro1573=) rs35480887
NM_000540.2(RYR1):c.4758G>A (p.Pro1586=) rs374222028
NM_000540.2(RYR1):c.4879G>A (p.Val1627Met) rs568486136
NM_000540.2(RYR1):c.487C>T (p.Arg163Cys) rs118192161
NM_000540.2(RYR1):c.4894C>T (p.Pro1632Ser) rs76537615
NM_000540.2(RYR1):c.4902C>G (p.Thr1634=) rs377100871
NM_000540.2(RYR1):c.4911G>A (p.Ala1637=) rs370350821
NM_000540.2(RYR1):c.4935-53T>G
NM_000540.2(RYR1):c.4971C>T (p.Asp1657=) rs141107290
NM_000540.2(RYR1):c.4978C>G (p.Arg1660Gly) rs1131691406
NM_000540.2(RYR1):c.4999C>T (p.Arg1667Cys) rs144157950
NM_000540.2(RYR1):c.5000G>A (p.Arg1667His) rs138978909
NM_000540.2(RYR1):c.5036G>A (p.Arg1679His) rs146504767
NM_000540.2(RYR1):c.5037C>G (p.Arg1679=) rs34169029
NM_000540.2(RYR1):c.5112C>T (p.Gly1704=) rs35352076
NM_000540.2(RYR1):c.5132A>C (p.Tyr1711Ser) rs754785770
NM_000540.2(RYR1):c.5289G>A (p.Pro1763=) rs376482004
NM_000540.2(RYR1):c.5309C>A (p.Ser1770Ter) rs398123472
NM_000540.2(RYR1):c.5317C>T (p.Pro1773Ser) rs192863857
NM_000540.2(RYR1):c.5334G>T (p.Ser1778=) rs35566549
NM_000540.2(RYR1):c.5339C>G (p.Pro1780Arg) rs369480385
NM_000540.2(RYR1):c.5340_5341del (p.Cys1781fs) rs779723153
NM_000540.2(RYR1):c.5352C>A (p.Ala1784=)
NM_000540.2(RYR1):c.5360C>T (p.Pro1787Leu) rs34934920
NM_000540.2(RYR1):c.5364T>G (p.Ala1788=) rs200950362
NM_000540.2(RYR1):c.5370G>A (p.Gly1790=) rs1222078088
NM_000540.2(RYR1):c.5439G>A (p.Arg1813=) rs147424734
NM_000540.2(RYR1):c.5493G>T (p.Gly1831=) rs140004449
NM_000540.2(RYR1):c.5509_5510del (p.Gln1837fs) rs1555779450
NM_000540.2(RYR1):c.5532C>T (p.Leu1844=)
NM_000540.2(RYR1):c.5547+145A>G
NM_000540.2(RYR1):c.5547+180C>T
NM_000540.2(RYR1):c.5547+263C>T
NM_000540.2(RYR1):c.5548-19C>G rs375020048
NM_000540.2(RYR1):c.5548-261A>T
NM_000540.2(RYR1):c.5565C>T (p.Gly1855=) rs61750975
NM_000540.2(RYR1):c.5622A>G (p.Glu1874=) rs35021937
NM_000540.2(RYR1):c.5628_5630GGA[2] (p.Glu1878del) rs371047178
NM_000540.2(RYR1):c.5634G>C (p.Glu1878Asp) rs114203198
NM_000540.2(RYR1):c.5638G>C (p.Glu1880Gln) rs777733662
NM_000540.2(RYR1):c.573C>T (p.Asp191=) rs892054
NM_000540.2(RYR1):c.5778G>C (p.Leu1926=) rs754492782
NM_000540.2(RYR1):c.5814+271C>T
NM_000540.2(RYR1):c.5814+279G>A
NM_000540.2(RYR1):c.5814+295C>T
NM_000540.2(RYR1):c.5815-123G>A
NM_000540.2(RYR1):c.5815-16G>A rs1064796679
NM_000540.2(RYR1):c.5815-227T>C
NM_000540.2(RYR1):c.5860C>T (p.Arg1954Cys) rs1354061498
NM_000540.2(RYR1):c.5926C>T (p.Arg1976Cys) rs747644094
NM_000540.2(RYR1):c.5942T>G (p.Ile1981Arg) rs1057524609
NM_000540.2(RYR1):c.594A>G (p.Leu198=) rs2229139
NM_000540.2(RYR1):c.5980C>T (p.Arg1994Cys) rs369167120
NM_000540.2(RYR1):c.6016-5C>G rs369996114
NM_000540.2(RYR1):c.6039A>G (p.Lys2013=) rs2228068
NM_000540.2(RYR1):c.6127+167C>T
NM_000540.2(RYR1):c.6127+340T>C
NM_000540.2(RYR1):c.6127+3A>G rs78851466
NM_000540.2(RYR1):c.6128-14T>C rs745995901
NM_000540.2(RYR1):c.6138A>G (p.Leu2046=)
NM_000540.2(RYR1):c.6178G>T (p.Gly2060Cys) rs35364374
NM_000540.2(RYR1):c.6208G>A (p.Val2070Met) rs749274175
NM_000540.2(RYR1):c.6232G>T (p.Glu2078Ter) rs1131691626
NM_000540.2(RYR1):c.6274+299C>T
NM_000540.2(RYR1):c.6275-279G>A
NM_000540.2(RYR1):c.632-276C>T
NM_000540.2(RYR1):c.6384C>T (p.Tyr2128=) rs75181912
NM_000540.2(RYR1):c.6418C>T (p.Arg2140Trp) rs750275456
NM_000540.2(RYR1):c.6421G>T (p.Ala2141Ser) rs1064796405
NM_000540.2(RYR1):c.6432C>T (p.Ile2144=) rs151063086
NM_000540.2(RYR1):c.6478G>A (p.Gly2160Ser) rs143398211
NM_000540.2(RYR1):c.6487C>T (p.Arg2163Cys) rs118192175
NM_000540.2(RYR1):c.6488G>A (p.Arg2163His) rs118192163
NM_000540.2(RYR1):c.6498C>T (p.Leu2166=) rs151313865
NM_000540.2(RYR1):c.6548+10C>T rs368922705
NM_000540.2(RYR1):c.6548+195T>C
NM_000540.2(RYR1):c.6549-8G>A rs756593088
NM_000540.2(RYR1):c.6549-9C>T rs370994573
NM_000540.2(RYR1):c.6561C>T (p.Asn2187=) rs780599614
NM_000540.2(RYR1):c.6566_6567del (p.Lys2189fs) rs1064794845
NM_000540.2(RYR1):c.6612C>T (p.His2204=) rs141646642
NM_000540.2(RYR1):c.6617C>T (p.Thr2206Met) rs118192177
NM_000540.2(RYR1):c.6631A>C (p.Met2211Leu) rs1131691876
NM_000540.2(RYR1):c.6639C>T (p.Asn2213=) rs374630822
NM_000540.2(RYR1):c.6645C>T (p.Leu2215=) rs146617004
NM_000540.2(RYR1):c.6670C>T (p.Arg2224Cys) rs199870223
NM_000540.2(RYR1):c.6721C>T rs200563280
NM_000540.2(RYR1):c.6732G>A (p.Arg2244=) rs78915828
NM_000540.2(RYR1):c.6789C>T (p.Ile2263=) rs112051106
NM_000540.2(RYR1):c.6797-50A>G rs34812626
NM_000540.2(RYR1):c.6797-6C>A rs1405203955
NM_000540.2(RYR1):c.6806dup (p.Ser2270fs) rs886041380
NM_000540.2(RYR1):c.6821A>G (p.Asp2274Gly) rs1064796493
NM_000540.2(RYR1):c.6838G>T (p.Val2280Phe) rs193922797
NM_000540.2(RYR1):c.6884T>C (p.Leu2295Pro) rs1555782434
NM_000540.2(RYR1):c.6891+272T>G
NM_000540.2(RYR1):c.6892-11T>C rs138843395
NM_000540.2(RYR1):c.6892-14C>T rs886038338
NM_000540.2(RYR1):c.6942G>A (p.Val2314=)
NM_000540.2(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895
NM_000540.2(RYR1):c.7028-10G>A rs1005260620
NM_000540.2(RYR1):c.7028-11C>T rs369342449
NM_000540.2(RYR1):c.7063C>T (p.Arg2355Trp) rs193922803
NM_000540.2(RYR1):c.7071C>T (p.Leu2357=) rs1400420801
NM_000540.2(RYR1):c.7075C>T (p.Arg2359Trp) rs769482889
NM_000540.2(RYR1):c.7089C>T (p.Cys2363=) rs2228071
NM_000540.2(RYR1):c.7098C>T (p.Pro2366=) rs2229147
NM_000540.2(RYR1):c.7102C>G (p.Leu2368Val) rs139498212
NM_000540.2(RYR1):c.7121C>T (p.Ser2374Leu) rs1131692006
NM_000540.2(RYR1):c.7161C>T (p.Ser2387=) rs766839127
NM_000540.2(RYR1):c.7209C>T (p.Arg2403=) rs78795178
NM_000540.2(RYR1):c.722G>A (p.Arg241His) rs552007612
NM_000540.2(RYR1):c.725+6G>A rs201679831
NM_000540.2(RYR1):c.7260C>T (p.His2420=) rs12973632
NM_000540.2(RYR1):c.7281C>T (p.Ala2427=) rs77310009
NM_000540.2(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593
NM_000540.2(RYR1):c.7323+20C>A rs2234709
NM_000540.2(RYR1):c.7354C>T (p.Arg2452Trp) rs118192124
NM_000540.2(RYR1):c.7368C>T (p.Ile2456=)
NM_000540.2(RYR1):c.742G>C (p.Gly248Arg) rs1801086
NM_000540.2(RYR1):c.7483G>A (p.Val2495Met) rs200291321
NM_000540.2(RYR1):c.7500G>A (p.Ala2500=) rs2228072
NM_000540.2(RYR1):c.7527G>A (p.Val2509=) rs2071088
NM_000540.2(RYR1):c.7584C>G (p.Pro2528=) rs1465698
NM_000540.2(RYR1):c.7584C>T (p.Pro2528=) rs1465698
NM_000540.2(RYR1):c.7598C>T (p.Ala2533Val) rs1085307809
NM_000540.2(RYR1):c.7614+10C>G rs2960323
NM_000540.2(RYR1):c.7614+16C>T rs557965577
NM_000540.2(RYR1):c.7614+259C>T
NM_000540.2(RYR1):c.7615-13C>T rs1331219827
NM_000540.2(RYR1):c.7615-20G>A rs746763718
NM_000540.2(RYR1):c.7615-237A>C
NM_000540.2(RYR1):c.7615-7G>A rs146159174
NM_000540.2(RYR1):c.7653C>T (p.Asn2551=) rs201166038
NM_000540.2(RYR1):c.7737G>A (p.Val2579=) rs114975624
NM_000540.2(RYR1):c.7740C>T (p.Asp2580=) rs555791373
NM_000540.2(RYR1):c.7742C>T (p.Ser2581Phe) rs746348043
NM_000540.2(RYR1):c.7788C>T (p.Thr2596=) rs199636890
NM_000540.2(RYR1):c.7800T>C (p.Arg2600=)
NM_000540.2(RYR1):c.7830C>T (p.Leu2610=) rs140063541
NM_000540.2(RYR1):c.7835+12C>A rs755502084
NM_000540.2(RYR1):c.7835+16C>T rs547949606
NM_000540.2(RYR1):c.7835+19_7835+20ins17
NM_000540.2(RYR1):c.7835+1G>A rs1057524858
NM_000540.2(RYR1):c.7835+5A>G rs1469695
NM_000540.2(RYR1):c.7835+7C>T rs114522234
NM_000540.2(RYR1):c.7836-13C>T rs377583365
NM_000540.2(RYR1):c.7836-17T>C rs142720065
NM_000540.2(RYR1):c.7836-19C>G rs201378267
NM_000540.2(RYR1):c.7836-19C>T rs201378267
NM_000540.2(RYR1):c.7851G>A (p.Ser2617=) rs745334519
NM_000540.2(RYR1):c.7860G>A (p.Gln2620=) rs147587000
NM_000540.2(RYR1):c.7863C>T (p.His2621=) rs2229142
NM_000540.2(RYR1):c.7872C>T (p.Arg2624=) rs1469698
NM_000540.2(RYR1):c.7878G>A (p.Leu2626=) rs148907377
NM_000540.2(RYR1):c.7881G>A (p.Val2627=) rs201877620
NM_000540.2(RYR1):c.7923C>G (p.Leu2641=) rs142558977
NM_000540.2(RYR1):c.7926+28A>G rs1469699
NM_000540.2(RYR1):c.7926+5G>A rs1555784807
NM_000540.2(RYR1):c.7969_7970delinsA (p.Leu2657fs) rs1555785090
NM_000540.2(RYR1):c.7976C>T (p.Thr2659Met) rs138325444
NM_000540.2(RYR1):c.7977G>A (p.Thr2659=) rs2229144
NM_000540.2(RYR1):c.7992C>T (p.Phe2664=) rs150620191
NM_000540.2(RYR1):c.800+142T>G
NM_000540.2(RYR1):c.8067+13G>A rs1057521480
NM_000540.2(RYR1):c.8067+152G>A
NM_000540.2(RYR1):c.8068-14C>T rs57376136
NM_000540.2(RYR1):c.8068-155A>G
NM_000540.2(RYR1):c.8068-35C>T rs200793331
NM_000540.2(RYR1):c.8073C>T (p.Tyr2691=) rs202160739
NM_000540.2(RYR1):c.8079G>C (p.Pro2693=) rs368063600
NM_000540.2(RYR1):c.8093T>C (p.Met2698Thr) rs185021599
NM_000540.2(RYR1):c.8118T>C (p.Ile2706=) rs2960340
NM_000540.2(RYR1):c.8121C>T (p.Ala2707=) rs569143131
NM_000540.2(RYR1):c.8128C>T (p.Leu2710=) rs1555785242
NM_000540.2(RYR1):c.8142T>C (p.Tyr2714=) rs567352621
NM_000540.2(RYR1):c.8190T>C (p.Asp2730=) rs2915951
NM_000540.2(RYR1):c.8277G>A (p.Ala2759=) rs375159951
NM_000540.2(RYR1):c.8289C>T (p.His2763=) rs145567931
NM_000540.2(RYR1):c.8330A>T (p.Tyr2777Phe) rs769276412
NM_000540.2(RYR1):c.8337G>A (p.Glu2779=) rs2915952
NM_000540.2(RYR1):c.8360C>G (p.Thr2787Ser) rs35180584
NM_000540.2(RYR1):c.8361C>T (p.Thr2787=) rs77216903
NM_000540.2(RYR1):c.8376G>A (p.Arg2792=) rs150388417
NM_000540.2(RYR1):c.8400+28A>G rs2915953
NM_000540.2(RYR1):c.8400+2T>A rs1057517909
NM_000540.2(RYR1):c.8400+61C>T rs2960341
NM_000540.2(RYR1):c.8401-8C>T
NM_000540.2(RYR1):c.8541+34C>T rs2960342
NM_000540.2(RYR1):c.8541+37T>G rs2960343
NM_000540.2(RYR1):c.8541+54A>G rs2915954
NM_000540.2(RYR1):c.8542-122A>C
NM_000540.2(RYR1):c.8542-72C>T
NM_000540.2(RYR1):c.8544C>G (p.Thr2848=) rs757718303
NM_000540.2(RYR1):c.8589T>C (p.Ser2863=) rs2229146
NM_000540.2(RYR1):c.8616+18T>C rs201401795
NM_000540.2(RYR1):c.8616+7G>A rs200023171
NM_000540.2(RYR1):c.8617-35C>T rs2960344
NM_000540.2(RYR1):c.8692+137T>C
NM_000540.2(RYR1):c.8692+1G>T rs1057523844
NM_000540.2(RYR1):c.8692+28T>G rs2960345
NM_000540.2(RYR1):c.8693-10G>C rs2915958
NM_000540.2(RYR1):c.8733C>A (p.Leu2911=) rs200427576
NM_000540.2(RYR1):c.873G>A (p.Ala291=) rs2229140
NM_000540.2(RYR1):c.8816+16C>T rs181138438
NM_000540.2(RYR1):c.8816+171C>A
NM_000540.2(RYR1):c.8816+17T>A rs2915959
NM_000540.2(RYR1):c.8816+304C>T
NM_000540.2(RYR1):c.8816+43A>C rs2960346
NM_000540.2(RYR1):c.8816+87G>T rs2960347
NM_000540.2(RYR1):c.8817-327G>T
NM_000540.2(RYR1):c.8817-63A>G
NM_000540.2(RYR1):c.8827G>A (p.Asp2943Asn) rs79294840
NM_000540.2(RYR1):c.8831T>C (p.Met2944Thr) rs1555786188
NM_000540.2(RYR1):c.8949T>C (p.Ser2983=) rs116537677
NM_000540.2(RYR1):c.897G>C (p.Val299=) rs76854339
NM_000540.2(RYR1):c.906C>T (p.Asp302=) rs145943283
NM_000540.2(RYR1):c.9090C>T (p.His3030=) rs767704607
NM_000540.2(RYR1):c.9122+329A>G
NM_000540.2(RYR1):c.9123-61C>T rs2960336
NM_000540.2(RYR1):c.9155A>G (p.His3052Arg) rs1171211801
NM_000540.2(RYR1):c.9173-21C>T rs2960338
NM_000540.2(RYR1):c.9173-98T>G rs2960337
NM_000540.2(RYR1):c.9186A>G (p.Pro3062=) rs2071089
NM_000540.2(RYR1):c.9234-13G>A rs141299670
NM_000540.2(RYR1):c.9242T>C (p.Met3081Thr) rs147012990
NM_000540.2(RYR1):c.9262G>A (p.Val3088Met) rs145044872
NM_000540.2(RYR1):c.9277C>T (p.Arg3093Cys) rs1064797039
NM_000540.2(RYR1):c.9288C>T (p.Phe3096=) rs374011553
NM_000540.2(RYR1):c.929C>T (p.Ala310Val) rs966781989
NM_000540.2(RYR1):c.9310G>A (p.Glu3104Lys) rs193922832
NM_000540.2(RYR1):c.9353C>T (p.Ala3118Val) rs2915960
NM_000540.2(RYR1):c.9356G>A (p.Arg3119His) rs193922833
NM_000540.2(RYR1):c.9414G>A (p.Pro3138=) rs116130182
NM_000540.2(RYR1):c.9456C>T (p.Phe3152=) rs369206584
NM_000540.2(RYR1):c.9472+119G>C
NM_000540.2(RYR1):c.9472+140A>G
NM_000540.2(RYR1):c.9472+1G>A rs776697656
NM_000540.2(RYR1):c.94C>T (p.Leu32Phe) rs138630815
NM_000540.2(RYR1):c.9523C>G (p.Leu3175Val) rs528199298
NM_000540.2(RYR1):c.9554+8G>A rs375627885
NM_000540.2(RYR1):c.9555-10C>T rs774666035
NM_000540.2(RYR1):c.9555-13C>T rs2960328
NM_000540.2(RYR1):c.9555-7C>G rs376790946
NM_000540.2(RYR1):c.9555-9G>A rs149569999
NM_000540.2(RYR1):c.957+19G>A rs1057523425
NM_000540.2(RYR1):c.958_960delGAG rs1064794313
NM_000540.2(RYR1):c.9635A>G (p.Glu3212Gly) rs199738299
NM_000540.2(RYR1):c.9673C>T (p.Arg3225Trp) rs766665861
NM_000540.2(RYR1):c.9685+16C>T rs45496799
NM_000540.2(RYR1):c.9690G>A (p.Leu3230=) rs2304151
NM_000540.2(RYR1):c.9703A>C (p.Ser3235Arg) rs747488155
NM_000540.2(RYR1):c.9713A>G (p.Glu3238Gly) rs200950673
NM_000540.2(RYR1):c.9771C>T (p.Ala3257=) rs75991872
NM_000540.2(RYR1):c.9847C>T (p.Arg3283Ter) rs752199191
NM_000540.2(RYR1):c.9882C>T (p.Ser3294=) rs142610625
NM_000540.2(RYR1):c.9895G>A (p.Gly3299Ser) rs372203483
NM_000540.2(RYR1):c.9921C>T (p.Val3307=) rs1399221695
NM_000540.2(RYR1):c.9930C>T (p.Asp3310=) rs1315921296
NM_001042723.2(RYR1):c.14115-19TC[8] rs750824483
NM_001042723.2(RYR1):c.14632-1447_14632-1446del rs1275854388
NM_001042723.2(RYR1):c.14632-1450_14632-1449del rs1383477464

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