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.6721C>T (p.Arg2241Ter)
|
rs200563280
|
0.00013
|
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met)
|
rs193922879
|
0.00011
|
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.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.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.5340_5341del (p.Cys1781fs)
|
rs779723153
|
0.00004
|
NM_000540.3(RYR1):c.6274+1G>A
|
rs1226228092
|
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.7093G>A (p.Gly2365Arg)
|
rs761224660
|
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.11314C>T (p.Arg3772Trp)
|
rs763112609
|
0.00002
|
NM_000540.3(RYR1):c.1264G>A (p.Gly422Arg)
|
rs757157750
|
0.00002
|
NM_000540.3(RYR1):c.14173-2A>G
|
rs1189024951
|
0.00002
|
NM_000540.3(RYR1):c.15089G>A (p.Arg5030His)
|
rs747155223
|
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.6860C>A (p.Ala2287Asp)
|
rs761154999
|
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.11590+1G>T
|
rs113928116
|
0.00001
|
NM_000540.3(RYR1):c.11708G>A (p.Arg3903Gln)
|
rs148399313
|
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.14129+1G>A
|
rs142929172
|
0.00001
|
NM_000540.3(RYR1):c.14474G>A (p.Arg4825His)
|
rs193922875
|
0.00001
|
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile)
|
rs118192168
|
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.14833C>T (p.Arg4945Ter)
|
rs1432807966
|
0.00001
|
NM_000540.3(RYR1):c.14939C>T (p.Thr4980Met)
|
rs398123471
|
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.3523G>A (p.Glu1175Lys)
|
rs769744438
|
0.00001
|
NM_000540.3(RYR1):c.4160+1G>A
|
rs113460156
|
0.00001
|
NM_000540.3(RYR1):c.46-10G>A
|
rs1972632890
|
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.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.6823G>A (p.Val2275Met)
|
rs756847750
|
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.7268T>A (p.Met2423Lys)
|
rs118192174
|
0.00001
|
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr)
|
rs193922809
|
0.00001
|
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys)
|
rs28933397
|
0.00001
|
NM_000540.3(RYR1):c.7858C>T (p.Gln2620Ter)
|
rs1365856881
|
0.00001
|
NM_000540.3(RYR1):c.798C>T (p.Ile266=)
|
rs764527957
|
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.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.9623C>T (p.Pro3208Leu)
|
rs758210285
|
0.00001
|
NM_000540.3(RYR1):c.9716T>A (p.Met3239Lys)
|
rs371027185
|
0.00001
|
GRCh37/hg19 19q13.2(chr19:38987608-38993136)
|
|
|
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.1007_1008del (p.Pro336fs)
|
|
|
NM_000540.3(RYR1):c.10171G>T (p.Glu3391Ter)
|
|
|
NM_000540.3(RYR1):c.10336del (p.Ser3446fs)
|
|
|
NM_000540.3(RYR1):c.10441-48G>A
|
|
|
NM_000540.3(RYR1):c.10450dup (p.Ile3484fs)
|
|
|
NM_000540.3(RYR1):c.10729C>G (p.Arg3577Gly)
|
rs538497899
|
|
NM_000540.3(RYR1):c.10828G>T (p.Glu3610Ter)
|
|
|
NM_000540.3(RYR1):c.10924T>G (p.Tyr3642Asp)
|
rs1971575594
|
|
NM_000540.3(RYR1):c.11193+1G>A
|
|
|
NM_000540.3(RYR1):c.11359+1del
|
|
|
NM_000540.3(RYR1):c.11608+1G>A
|
|
|
NM_000540.3(RYR1):c.11715G>C (p.Gln3905His)
|
|
|
NM_000540.3(RYR1):c.1186G>A (p.Glu396Lys)
|
rs774919231
|
|
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>A (p.Arg401His)
|
rs193922766
|
|
NM_000540.3(RYR1):c.1202G>T (p.Arg401Leu)
|
rs193922766
|
|
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu)
|
rs794728696
|
|
NM_000540.3(RYR1):c.12095-2A>G
|
|
|
NM_000540.3(RYR1):c.1209C>G (p.Ile403Met)
|
rs118192116
|
|
NM_000540.3(RYR1):c.12319del (p.Ile4107fs)
|
rs754572007
|
|
NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter)
|
rs772494345
|
|
NM_000540.3(RYR1):c.12590_12591del (p.Ile4196_Ser4197insTer)
|
|
|
NM_000540.3(RYR1):c.12623A>G (p.Gln4208Arg)
|
|
|
NM_000540.3(RYR1):c.128A>C (p.Asn43Thr)
|
|
|
NM_000540.3(RYR1):c.12978del (p.Glu4327fs)
|
rs1568582893
|
|
NM_000540.3(RYR1):c.13041_13066del (p.Ala4348fs)
|
|
|
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys)
|
rs193922748
|
|
NM_000540.3(RYR1):c.1342A>T (p.Ile448Phe)
|
rs911417327
|
|
NM_000540.3(RYR1):c.13667T>C (p.Leu4556Pro)
|
|
|
NM_000540.3(RYR1):c.13892A>C (p.Tyr4631Ser)
|
rs1568593922
|
|
NM_000540.3(RYR1):c.13904A>G (p.Glu4635Gly)
|
rs1568593984
|
|
NM_000540.3(RYR1):c.13913G>A (p.Gly4638Asp)
|
rs118192135
|
|
NM_000540.3(RYR1):c.13913G>T (p.Gly4638Val)
|
|
|
NM_000540.3(RYR1):c.13940T>A (p.Leu4647Gln)
|
|
|
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln)
|
rs193922868
|
|
NM_000540.3(RYR1):c.14228G>T (p.Gly4743Val)
|
|
|
NM_000540.3(RYR1):c.14364+1G>A
|
rs1974046221
|
|
NM_000540.3(RYR1):c.1438G>A (p.Glu480Lys)
|
rs878854375
|
|
NM_000540.3(RYR1):c.1440+2T>G
|
rs1555767403
|
|
NM_000540.3(RYR1):c.14411A>G (p.His4804Arg)
|
rs1568604308
|
|
NM_000540.3(RYR1):c.14423T>A (p.Phe4808Tyr)
|
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.14488T>C (p.Ser4830Pro)
|
|
|
NM_000540.3(RYR1):c.14490dup (p.Val4831fs)
|
rs2145895408
|
|
NM_000540.3(RYR1):c.14504G>A (p.Gly4835Glu)
|
|
|
NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys)
|
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.14650T>C (p.Tyr4884His)
|
rs2145912840
|
|
NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp)
|
rs118192150
|
|
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.14758_14778dup (p.Ile4926_Val4927insThrPhePhePhePheValIle)
|
|
|
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del)
|
rs1064794572
|
|
NM_000540.3(RYR1):c.14766C>A (p.Phe4922Leu)
|
rs1599674487
|
|
NM_000540.3(RYR1):c.14811C>G (p.Ile4937Met)
|
rs2145917373
|
|
NM_000540.3(RYR1):c.15016G>A (p.Gly5006Ser)
|
rs1568614042
|
|
NM_000540.3(RYR1):c.15021+2T>G
|
|
|
NM_000540.3(RYR1):c.15047_15048del (p.Gln5016fs)
|
rs1555806119
|
|
NM_000540.3(RYR1):c.165+1G>T
|
|
|
NM_000540.3(RYR1):c.1654C>T (p.Arg552Trp)
|
rs193922770
|
|
NM_000540.3(RYR1):c.177dup (p.Asp60fs)
|
rs756326114
|
|
NM_000540.3(RYR1):c.1999dup (p.Val667fs)
|
|
|
NM_000540.3(RYR1):c.2044C>G (p.Arg682Gly)
|
rs776252106
|
|
NM_000540.3(RYR1):c.2065G>T (p.Glu689Ter)
|
|
|
NM_000540.3(RYR1):c.212C>A (p.Ser71Tyr)
|
rs118192113
|
|
NM_000540.3(RYR1):c.2168-1G>A
|
|
|
NM_000540.3(RYR1):c.2200C>T (p.Gln734Ter)
|
|
|
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>A
|
|
|
NM_000540.3(RYR1):c.2449C>T (p.Arg817Ter)
|
|
|
NM_000540.3(RYR1):c.2500_2501dup (p.Pro836fs)
|
rs1568454672
|
|
NM_000540.3(RYR1):c.2505del (p.Pro836fs)
|
rs797045932
|
|
NM_000540.3(RYR1):c.2578-2A>G
|
|
|
NM_000540.3(RYR1):c.2633A>G (p.His878Arg)
|
|
|
NM_000540.3(RYR1):c.2648T>C (p.Leu883Pro)
|
|
|
NM_000540.3(RYR1):c.2682G>A (p.Pro894=)
|
rs919322708
|
|
NM_000540.3(RYR1):c.2792T>C (p.Leu931Pro)
|
rs1600706153
|
|
NM_000540.3(RYR1):c.2984G>A (p.Trp995Ter)
|
rs1440262870
|
|
NM_000540.3(RYR1):c.3178+587A>G
|
|
|
NM_000540.3(RYR1):c.3263A>G (p.Tyr1088Cys)
|
|
|
NM_000540.3(RYR1):c.3291C>T (p.Gly1097=)
|
rs1234999215
|
|
NM_000540.3(RYR1):c.3364del (p.Val1122fs)
|
|
|
NM_000540.3(RYR1):c.3382-1G>A
|
|
|
NM_000540.3(RYR1):c.345G>A (p.Met115Ile)
|
|
|
NM_000540.3(RYR1):c.3494G>A (p.Gly1165Asp)
|
rs559581937
|
|
NM_000540.3(RYR1):c.3880G>T (p.Val1294Phe)
|
rs1968540857
|
|
NM_000540.3(RYR1):c.3964_3982dup (p.Asp1328fs)
|
rs1281542312
|
|
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.4837C>T (p.Gln1613Ter)
|
rs1332371891
|
|
NM_000540.3(RYR1):c.5628GGA[2] (p.Glu1878del)
|
rs371047178
|
|
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.6469del (p.Glu2157fs)
|
|
|
NM_000540.3(RYR1):c.6500T>G (p.Ile2167Ser)
|
|
|
NM_000540.3(RYR1):c.6800dup (p.Met2267fs)
|
|
|
NM_000540.3(RYR1):c.6847A>C (p.Asn2283His)
|
rs118192121
|
|
NM_000540.3(RYR1):c.685T>C (p.Cys229Arg)
|
rs1600649879
|
|
NM_000540.3(RYR1):c.693del (p.Ile232fs)
|
|
|
NM_000540.3(RYR1):c.7084G>A (p.Glu2362Lys)
|
rs762401851
|
|
NM_000540.3(RYR1):c.725G>A (p.Arg242Lys)
|
|
|
NM_000540.3(RYR1):c.7282G>T (p.Ala2428Ser)
|
|
|
NM_000540.3(RYR1):c.7291G>T (p.Asp2431Tyr)
|
rs193922810
|
|
NM_000540.3(RYR1):c.742G>T (p.Gly248Trp)
|
rs1801086
|
|
NM_000540.3(RYR1):c.7522C>A (p.Arg2508Ser)
|
|
|
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys)
|
rs118192178
|
|
NM_000540.3(RYR1):c.7835+1G>A
|
rs1057524858
|
|
NM_000540.3(RYR1):c.7836-1G>A
|
rs1568507354
|
|
NM_000540.3(RYR1):c.7856T>C (p.Leu2619Pro)
|
rs1263237391
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NM_000540.3(RYR1):c.7927-1G>T
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NM_000540.3(RYR1):c.7954dup (p.Trp2652fs)
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rs1600842678
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NM_000540.3(RYR1):c.7968C>A (p.Cys2656Ter)
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NM_000540.3(RYR1):c.8024C>A (p.Thr2675Lys)
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rs1600843056
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NM_000540.3(RYR1):c.8136dup (p.Asp2713fs)
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rs761483896
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NM_000540.3(RYR1):c.8196del (p.Gly2733fs)
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rs1600844997
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NM_000540.3(RYR1):c.8929_8932+4delinsAAGCGG
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rs1555786205
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NM_000540.3(RYR1):c.8953C>T (p.Arg2985Ter)
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NM_000540.3(RYR1):c.9345del (p.Ser3116fs)
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rs2145663047
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NM_000540.3(RYR1):c.9611C>T (p.Ala3204Val)
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NM_000540.3(RYR1):c.9625C>T (p.Gln3209Ter)
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NM_000540.3(RYR1):c.9633C>A (p.Asn3211Lys)
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rs978984063
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NM_000540.3(RYR1):c.9886del (p.Leu3296fs)
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NM_000540.3(RYR1):c.9910T>C (p.Cys3304Arg)
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NM_000540.3(RYR1):c.[1834G>C];[2045G>A]
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