NM_000540.3(RYR1):c.7835+5A>G
|
rs1469695
|
0.38217
|
NM_000540.3(RYR1):c.8190T>C (p.Asp2730=)
|
rs2915951
|
0.33482
|
NM_000540.3(RYR1):c.7977G>A (p.Thr2659=)
|
rs2229144
|
0.33092
|
NM_000540.3(RYR1):c.8118T>C (p.Ile2706=)
|
rs2960340
|
0.33086
|
NM_000540.3(RYR1):c.9186A>G (p.Pro3062=)
|
rs2071089
|
0.32394
|
NM_000540.3(RYR1):c.8693-10G>C
|
rs2915958
|
0.32159
|
NM_000540.3(RYR1):c.7614+10C>G
|
rs2960323
|
0.23284
|
NM_000540.3(RYR1):c.7863C>T (p.His2621=)
|
rs2229142
|
0.16420
|
NM_000540.3(RYR1):c.10687-7C>T
|
rs2960354
|
0.12378
|
NM_000540.3(RYR1):c.7098C>T (p.Pro2366=)
|
rs2229147
|
0.10248
|
NM_000540.3(RYR1):c.7089C>T (p.Cys2363=)
|
rs2228071
|
0.06536
|
NM_000540.3(RYR1):c.7737G>A (p.Val2579=)
|
rs114975624
|
0.00971
|
NM_000540.3(RYR1):c.12879G>C (p.Ala4293=)
|
rs193922854
|
0.00873
|
NM_000540.3(RYR1):c.4894C>T (p.Pro1632Ser)
|
rs76537615
|
0.00586
|
NM_000540.3(RYR1):c.-69T>G
|
rs886054377
|
0.00582
|
NM_000540.3(RYR1):c.12881C>T (p.Thr4294Met)
|
rs587784372
|
0.00471
|
NM_000540.3(RYR1):c.12588C>T (p.Ile4196=)
|
rs61739895
|
0.00460
|
NM_000540.3(RYR1):c.14505G>A (p.Gly4835=)
|
rs118126378
|
0.00334
|
NM_000540.3(RYR1):c.9685+16C>T
|
rs45496799
|
0.00312
|
NM_000540.3(RYR1):c.12956G>A (p.Arg4319Gln)
|
rs539194350
|
0.00306
|
NM_000540.3(RYR1):c.12869C>T (p.Ala4290Val)
|
rs755065800
|
0.00298
|
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg)
|
rs137933390
|
0.00282
|
NM_000540.3(RYR1):c.2121C>A (p.Gly707=)
|
rs146104858
|
0.00208
|
NM_000540.3(RYR1):c.9242T>C (p.Met3081Thr)
|
rs147012990
|
0.00207
|
NM_000540.3(RYR1):c.12283-7C>T
|
rs143861818
|
0.00206
|
NM_000540.3(RYR1):c.271-7C>G
|
rs192495718
|
0.00197
|
NM_000540.3(RYR1):c.9353C>T (p.Ala3118Val)
|
rs2915960
|
0.00188
|
NM_000540.3(RYR1):c.9555-9G>A
|
rs149569999
|
0.00180
|
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His)
|
rs143987857
|
0.00171
|
NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys)
|
rs144157950
|
0.00165
|
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val)
|
rs193922855
|
0.00163
|
NM_000540.3(RYR1):c.*135C>T
|
rs188314477
|
0.00140
|
NM_000540.3(RYR1):c.2797G>A (p.Ala933Thr)
|
rs148623597
|
0.00137
|
NM_000540.3(RYR1):c.7923C>G (p.Leu2641=)
|
rs142558977
|
0.00126
|
NM_000540.3(RYR1):c.94C>T (p.Leu32Phe)
|
rs138630815
|
0.00125
|
NM_000540.3(RYR1):c.9355C>T (p.Arg3119Cys)
|
rs61739911
|
0.00113
|
NM_000540.3(RYR1):c.725+6G>A
|
rs201679831
|
0.00111
|
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys)
|
rs147136339
|
0.00108
|
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val)
|
rs146429605
|
0.00107
|
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser)
|
rs147213895
|
0.00104
|
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His)
|
rs146504767
|
0.00101
|
NM_000540.3(RYR1):c.4088C>T (p.Ala1363Val)
|
rs774603798
|
0.00084
|
NM_000540.3(RYR1):c.14257G>A (p.Ala4753Thr)
|
rs138156449
|
0.00080
|
NM_000540.3(RYR1):c.7536C>T (p.Ile2512=)
|
rs368560744
|
0.00080
|
NM_000540.3(RYR1):c.10119G>A (p.Val3373=)
|
rs140689610
|
0.00079
|
NM_000540.3(RYR1):c.4971C>T (p.Asp1657=)
|
rs141107290
|
0.00078
|
NM_000540.3(RYR1):c.2545G>A (p.Asp849Asn)
|
rs200893443
|
0.00074
|
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His)
|
rs137932199
|
0.00073
|
NM_000540.3(RYR1):c.5364T>G (p.Ala1788=)
|
rs200950362
|
0.00073
|
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn)
|
rs138874610
|
0.00065
|
NM_000540.3(RYR1):c.11321C>T (p.Ala3774Val)
|
rs146361173
|
0.00061
|
NM_000540.3(RYR1):c.443C>T (p.Thr148Ile)
|
rs151325948
|
0.00061
|
NM_000540.3(RYR1):c.9555-7C>G
|
rs376790946
|
0.00061
|
NM_000540.3(RYR1):c.13022C>T (p.Thr4341Met)
|
rs752855919
|
0.00058
|
NM_000540.3(RYR1):c.2682+7G>A
|
rs201498416
|
0.00058
|
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val)
|
rs34390345
|
0.00058
|
NM_000540.3(RYR1):c.14070G>A (p.Thr4690=)
|
rs113058779
|
0.00057
|
NM_000540.3(RYR1):c.2091C>T (p.Ala697=)
|
rs138704724
|
0.00057
|
NM_000540.3(RYR1):c.12880A>G (p.Thr4294Ala)
|
rs1003914966
|
0.00053
|
NM_000540.3(RYR1):c.3505A>C (p.Met1169Leu)
|
rs139069946
|
0.00051
|
NM_000540.3(RYR1):c.13999-19G>A
|
rs775494152
|
0.00050
|
NM_000540.3(RYR1):c.9261C>T (p.Ile3087=)
|
rs56338790
|
0.00049
|
NM_000540.3(RYR1):c.9262G>A (p.Val3088Met)
|
rs145044872
|
0.00046
|
NM_000540.3(RYR1):c.12203A>G (p.Lys4068Arg)
|
rs114009747
|
0.00043
|
NM_000540.3(RYR1):c.3111C>T (p.Ser1037=)
|
rs145434723
|
0.00043
|
NM_000540.3(RYR1):c.6645C>T (p.Leu2215=)
|
rs146617004
|
0.00043
|
NM_000540.3(RYR1):c.4090G>C (p.Gly1364Arg)
|
rs35869497
|
0.00042
|
NM_000540.3(RYR1):c.8671A>C (p.Lys2891Gln)
|
rs146793133
|
0.00042
|
NM_000540.3(RYR1):c.9385C>T (p.Leu3129Phe)
|
rs143445685
|
0.00042
|
NM_000540.3(RYR1):c.12842G>A (p.Gly4281Glu)
|
rs754173025
|
0.00039
|
NM_000540.3(RYR1):c.12852CACGGCGGC[3] (p.4285TAA[3])
|
rs398123469
|
0.00039
|
NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly)
|
rs199738299
|
0.00038
|
NM_000540.3(RYR1):c.12553G>A (p.Ala4185Thr)
|
rs151119428
|
0.00037
|
NM_000540.3(RYR1):c.11439+9G>A
|
rs369650355
|
0.00036
|
NM_000540.3(RYR1):c.12886C>T (p.Arg4296Trp)
|
rs995399684
|
0.00035
|
NM_000540.3(RYR1):c.2658C>T (p.Ile886=)
|
rs148094797
|
0.00035
|
NM_000540.3(RYR1):c.10938-9C>T
|
rs201976186
|
0.00034
|
NM_000540.3(RYR1):c.13547A>G (p.Glu4516Gly)
|
rs149984626
|
0.00031
|
NM_000540.3(RYR1):c.5317C>T (p.Pro1773Ser)
|
rs192863857
|
0.00031
|
NM_000540.3(RYR1):c.7876C>T (p.Leu2626=)
|
rs145446438
|
0.00031
|
NM_000540.3(RYR1):c.7976C>T (p.Thr2659Met)
|
rs138325444
|
0.00031
|
NM_000540.3(RYR1):c.79G>A (p.Val27Met)
|
rs143481004
|
0.00030
|
NM_000540.3(RYR1):c.1598G>A (p.Arg533His)
|
rs144336148
|
0.00029
|
NM_000540.3(RYR1):c.3381C>T (p.Arg1127=)
|
rs200780880
|
0.00029
|
NM_000540.3(RYR1):c.5235G>A (p.Thr1745=)
|
rs149471411
|
0.00029
|
NM_000540.3(RYR1):c.2383C>T (p.Arg795Cys)
|
rs547608972
|
0.00026
|
NM_000540.3(RYR1):c.4115C>T (p.Ala1372Val)
|
rs370966353
|
0.00026
|
NM_000540.3(RYR1):c.5459G>T (p.Arg1820Leu)
|
rs750141316
|
0.00026
|
NM_000540.3(RYR1):c.7102C>G (p.Leu2368Val)
|
rs139498212
|
0.00026
|
NM_000540.3(RYR1):c.6478G>A (p.Gly2160Ser)
|
rs143398211
|
0.00025
|
NM_000540.3(RYR1):c.7026C>T (p.Asn2342=)
|
rs202061237
|
0.00024
|
NM_000540.3(RYR1):c.13477C>G (p.Pro4493Ala)
|
rs149455643
|
0.00023
|
NM_000540.3(RYR1):c.3555C>T (p.Asp1185=)
|
rs377282283
|
0.00022
|
NM_000540.3(RYR1):c.5000G>A (p.Arg1667His)
|
rs138978909
|
0.00022
|
NM_000540.3(RYR1):c.548C>T (p.Thr183Ile)
|
rs150038701
|
0.00022
|
NM_000540.3(RYR1):c.6639C>T (p.Asn2213=)
|
rs374630822
|
0.00022
|
NM_000540.3(RYR1):c.2645C>T (p.Ala882Val)
|
rs143701391
|
0.00021
|
NM_000540.3(RYR1):c.2822C>T (p.Ala941Val)
|
rs748568687
|
0.00020
|
NM_000540.3(RYR1):c.11034+15G>A
|
rs552725260
|
0.00019
|
NM_000540.3(RYR1):c.1123-11C>T
|
rs3745845
|
0.00019
|
NM_000540.3(RYR1):c.2160C>G (p.Leu720=)
|
rs200914778
|
0.00019
|
NM_000540.3(RYR1):c.2320G>A (p.Gly774Arg)
|
rs147918857
|
0.00019
|
NM_000540.3(RYR1):c.2588C>T (p.Pro863Leu)
|
rs145456934
|
0.00019
|
NM_000540.3(RYR1):c.2679C>G (p.Gly893=)
|
rs765657226
|
0.00019
|
NM_000540.3(RYR1):c.2933C>T (p.Pro978Leu)
|
rs200124278
|
0.00019
|
NM_000540.3(RYR1):c.7141G>A (p.Glu2381Lys)
|
rs148426762
|
0.00019
|
NM_000540.3(RYR1):c.8733C>A (p.Leu2911=)
|
rs200427576
|
0.00019
|
NM_000540.3(RYR1):c.89A>T (p.Glu30Val)
|
rs145771708
|
0.00019
|
NM_000540.3(RYR1):c.9886C>G (p.Leu3296Val)
|
rs368433841
|
0.00019
|
NM_000540.3(RYR1):c.9896G>T (p.Gly3299Val)
|
rs376790408
|
0.00019
|
NM_000540.3(RYR1):c.4292C>T (p.Thr1431Met)
|
rs191656849
|
0.00018
|
NM_000540.3(RYR1):c.4294-4C>T
|
rs368108496
|
0.00018
|
NM_000540.3(RYR1):c.4911G>A (p.Ala1637=)
|
rs370350821
|
0.00018
|
NM_000540.3(RYR1):c.2319C>T (p.Asp773=)
|
rs374924686
|
0.00016
|
NM_000540.3(RYR1):c.4237G>A (p.Asp1413Asn)
|
rs139142846
|
0.00016
|
NM_000540.3(RYR1):c.4257C>T (p.Asn1419=)
|
rs36042816
|
0.00016
|
NM_000540.3(RYR1):c.4847C>T (p.Thr1616Met)
|
rs776194441
|
0.00016
|
NM_000540.3(RYR1):c.6654C>T (p.Gly2218=)
|
rs149185729
|
0.00016
|
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly)
|
rs200950673
|
0.00016
|
NM_000540.3(RYR1):c.9796A>C (p.Met3266Leu)
|
rs201588259
|
0.00016
|
NM_000540.3(RYR1):c.14304-10G>A
|
rs368201693
|
0.00015
|
NM_000540.3(RYR1):c.2531G>A (p.Cys844Tyr)
|
rs146754847
|
0.00015
|
NM_000540.3(RYR1):c.2767A>G (p.Met923Val)
|
rs149913097
|
0.00015
|
NM_000540.3(RYR1):c.305A>G (p.Tyr102Cys)
|
rs760138384
|
0.00015
|
NM_000540.3(RYR1):c.3924G>C (p.Pro1308=)
|
rs144350050
|
0.00015
|
NM_000540.3(RYR1):c.7902C>A (p.Asn2634Lys)
|
rs148041292
|
0.00015
|
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp)
|
rs147320363
|
0.00014
|
NM_000540.3(RYR1):c.2676C>T (p.Tyr892=)
|
rs375402078
|
0.00014
|
NM_000540.3(RYR1):c.3095G>A (p.Arg1032His)
|
rs141942845
|
0.00014
|
NM_000540.3(RYR1):c.641C>T (p.Thr214Met)
|
rs727504129
|
0.00014
|
NM_000540.3(RYR1):c.9148G>A (p.Val3050Ile)
|
rs200797340
|
0.00014
|
NM_000540.3(RYR1):c.9634G>A (p.Glu3212Lys)
|
rs185371036
|
0.00014
|
NM_000540.3(RYR1):c.11450A>T (p.Asp3817Val)
|
rs372491219
|
0.00013
|
NM_000540.3(RYR1):c.11517C>T (p.Ser3839=)
|
rs151239950
|
0.00013
|
NM_000540.3(RYR1):c.14270G>A (p.Arg4757His)
|
rs768360593
|
0.00013
|
NM_000540.3(RYR1):c.2654G>A (p.Arg885His)
|
rs370634440
|
0.00013
|
NM_000540.3(RYR1):c.2687G>A (p.Arg896Gln)
|
rs147515913
|
0.00013
|
NM_000540.3(RYR1):c.5548-19C>G
|
rs375020048
|
0.00013
|
NM_000540.3(RYR1):c.6251G>A (p.Arg2084Gln)
|
rs143681974
|
0.00013
|
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)
|
rs200563280
|
0.00013
|
NM_000540.3(RYR1):c.7672G>A (p.Val2558Met)
|
rs771523641
|
0.00013
|
NM_000540.3(RYR1):c.8079G>A (p.Pro2693=)
|
rs368063600
|
0.00013
|
NM_000540.3(RYR1):c.9152G>A (p.Arg3051His)
|
rs147303895
|
0.00013
|
NM_000540.3(RYR1):c.9466G>A (p.Val3156Ile)
|
rs150230127
|
0.00013
|
NM_000540.3(RYR1):c.9555G>C (p.Lys3185Asn)
|
rs201080180
|
0.00013
|
NM_000540.3(RYR1):c.7904A>T (p.Glu2635Val)
|
rs755651622
|
0.00012
|
NM_000540.3(RYR1):c.14196C>A (p.Ile4732=)
|
rs201670423
|
0.00011
|
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met)
|
rs193922879
|
0.00011
|
NM_000540.3(RYR1):c.14606A>C (p.Asp4869Ala)
|
rs781367427
|
0.00011
|
NM_000540.3(RYR1):c.2366G>A (p.Arg789Gln)
|
rs200069592
|
0.00011
|
NM_000540.3(RYR1):c.4378G>A (p.Asp1460Asn)
|
rs753735721
|
0.00011
|
NM_000540.3(RYR1):c.5479C>T (p.Arg1827Cys)
|
rs746110626
|
0.00011
|
NM_000540.3(RYR1):c.6600G>A (p.Ala2200=)
|
rs375640581
|
0.00011
|
NM_000540.3(RYR1):c.8073C>T (p.Tyr2691=)
|
rs202160739
|
0.00011
|
NM_000540.3(RYR1):c.10348-6C>G
|
rs193922837
|
0.00010
|
NM_000540.3(RYR1):c.10440+4G>A
|
rs373523691
|
0.00010
|
NM_000540.3(RYR1):c.11599C>T (p.Arg3867Cys)
|
rs138593495
|
0.00010
|
NM_000540.3(RYR1):c.11691T>C (p.Asp3897=)
|
rs201588544
|
0.00010
|
NM_000540.3(RYR1):c.14670G>C (p.Val4890=)
|
rs773080803
|
0.00010
|
NM_000540.3(RYR1):c.418G>A (p.Ala140Thr)
|
rs142474192
|
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.7433C>A (p.Thr2478Asn)
|
rs141298868
|
0.00010
|
NM_000540.3(RYR1):c.10042C>T (p.Arg3348Cys)
|
rs118204421
|
0.00009
|
NM_000540.3(RYR1):c.10664A>T (p.Asn3555Ile)
|
rs199689862
|
0.00009
|
NM_000540.3(RYR1):c.10824+8G>A
|
rs374325589
|
0.00009
|
NM_000540.3(RYR1):c.1105G>A (p.Gly369Ser)
|
rs570010656
|
0.00009
|
NM_000540.3(RYR1):c.13480G>A (p.Glu4494Lys)
|
rs143849895
|
0.00009
|
NM_000540.3(RYR1):c.13849G>A (p.Gly4617Arg)
|
rs202226983
|
0.00009
|
NM_000540.3(RYR1):c.15015G>A (p.Thr5005=)
|
rs2229149
|
0.00009
|
NM_000540.3(RYR1):c.1593C>T (p.Gly531=)
|
rs927675372
|
0.00009
|
NM_000540.3(RYR1):c.4185C>T (p.Val1395=)
|
rs761955179
|
0.00009
|
NM_000540.3(RYR1):c.4763C>T (p.Pro1588Leu)
|
rs151029675
|
0.00009
|
NM_000540.3(RYR1):c.4910C>T (p.Ala1637Val)
|
rs569890286
|
0.00009
|
NM_000540.3(RYR1):c.5321C>T (p.Pro1774Leu)
|
rs199837883
|
0.00009
|
NM_000540.3(RYR1):c.6549-9C>T
|
rs370994573
|
0.00009
|
NM_000540.3(RYR1):c.9063G>A (p.Pro3021=)
|
rs200068725
|
0.00009
|
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp)
|
rs536304635
|
0.00008
|
NM_000540.3(RYR1):c.11412C>T (p.Leu3804=)
|
rs376851030
|
0.00008
|
NM_000540.3(RYR1):c.11518G>A (p.Val3840Ile)
|
rs140616359
|
0.00008
|
NM_000540.3(RYR1):c.12345A>C (p.Glu4115Asp)
|
rs148923077
|
0.00008
|
NM_000540.3(RYR1):c.12428C>T (p.Ala4143Val)
|
rs760743396
|
0.00008
|
NM_000540.3(RYR1):c.13190C>G (p.Ala4397Gly)
|
rs1057520588
|
0.00008
|
NM_000540.3(RYR1):c.13927G>A (p.Ala4643Thr)
|
rs200286252
|
0.00008
|
NM_000540.3(RYR1):c.1661A>G (p.Glu554Gly)
|
rs760285455
|
0.00008
|
NM_000540.3(RYR1):c.2488C>T (p.Arg830Trp)
|
rs142548565
|
0.00008
|
NM_000540.3(RYR1):c.2712G>A (p.Pro904=)
|
rs139339574
|
0.00008
|
NM_000540.3(RYR1):c.4747C>T (p.Arg1583Cys)
|
rs754476250
|
0.00008
|
NM_000540.3(RYR1):c.5289G>A (p.Pro1763=)
|
rs376482004
|
0.00008
|
NM_000540.3(RYR1):c.758C>T (p.Thr253Ile)
|
rs749073447
|
0.00008
|
NM_000540.3(RYR1):c.8310+10A>G
|
rs372730488
|
0.00008
|
NM_000540.3(RYR1):c.8715G>C (p.Leu2905=)
|
rs368684717
|
0.00008
|
NM_000540.3(RYR1):c.10032C>T (p.Pro3344=)
|
rs376687300
|
0.00007
|
NM_000540.3(RYR1):c.10260-12C>T
|
rs779541890
|
0.00007
|
NM_000540.3(RYR1):c.11260-13C>T
|
rs540088883
|
0.00007
|
NM_000540.3(RYR1):c.11477G>T (p.Gly3826Val)
|
rs1393018982
|
0.00007
|
NM_000540.3(RYR1):c.12629A>G (p.Lys4210Arg)
|
rs138932463
|
0.00007
|
NM_000540.3(RYR1):c.12841G>A (p.Gly4281Arg)
|
rs1131691504
|
0.00007
|
NM_000540.3(RYR1):c.1286C>T (p.Pro429Leu)
|
rs201054455
|
0.00007
|
NM_000540.3(RYR1):c.12888G>C (p.Arg4296=)
|
rs571850239
|
0.00007
|
NM_000540.3(RYR1):c.13603G>A (p.Glu4535Lys)
|
rs141444745
|
0.00007
|
NM_000540.3(RYR1):c.14168G>A (p.Arg4723His)
|
rs200766617
|
0.00007
|
NM_000540.3(RYR1):c.2251G>A (p.Val751Met)
|
rs767667578
|
0.00007
|
NM_000540.3(RYR1):c.2681C>T (p.Pro894Leu)
|
rs758631999
|
0.00007
|
NM_000540.3(RYR1):c.2812G>A (p.Val938Met)
|
rs369182023
|
0.00007
|
NM_000540.3(RYR1):c.3311C>T (p.Ala1104Val)
|
rs149096607
|
0.00007
|
NM_000540.3(RYR1):c.3495C>T (p.Gly1165=)
|
rs772616442
|
0.00007
|
NM_000540.3(RYR1):c.4489G>A (p.Gly1497Arg)
|
rs367637223
|
0.00007
|
NM_000540.3(RYR1):c.5637C>T (p.Asp1879=)
|
rs143418190
|
0.00007
|
NM_000540.3(RYR1):c.6670C>T (p.Arg2224Cys)
|
rs199870223
|
0.00007
|
NM_000540.3(RYR1):c.7028-8G>A
|
rs147390699
|
0.00007
|
NM_000540.3(RYR1):c.7208G>A (p.Arg2403His)
|
rs749136416
|
0.00007
|
NM_000540.3(RYR1):c.8904C>A (p.Asp2968Glu)
|
rs759530203
|
0.00007
|
NM_000540.3(RYR1):c.9800C>T (p.Pro3267Leu)
|
rs200375946
|
0.00007
|
NM_000540.3(RYR1):c.10219G>A (p.Ala3407Thr)
|
rs143533100
|
0.00006
|
NM_000540.3(RYR1):c.10274C>T (p.Thr3425Met)
|
rs150977342
|
0.00006
|
NM_000540.3(RYR1):c.10280C>T (p.Pro3427Leu)
|
rs775773632
|
0.00006
|
NM_000540.3(RYR1):c.10347C>T (p.His3449=)
|
rs373702420
|
0.00006
|
NM_000540.3(RYR1):c.10440+7G>A
|
rs750987143
|
0.00006
|
NM_000540.3(RYR1):c.10442C>T (p.Ala3481Val)
|
rs370630840
|
0.00006
|
NM_000540.3(RYR1):c.10492C>G (p.Arg3498Gly)
|
rs201358408
|
0.00006
|
NM_000540.3(RYR1):c.10601C>T (p.Thr3534Met)
|
rs146914779
|
0.00006
|
NM_000540.3(RYR1):c.10938-11C>T
|
rs760754746
|
0.00006
|
NM_000540.3(RYR1):c.10938-12T>A
|
rs767711818
|
0.00006
|
NM_000540.3(RYR1):c.1172G>A (p.Arg391His)
|
rs769387053
|
0.00006
|
NM_000540.3(RYR1):c.12398A>G (p.Glu4133Gly)
|
rs201321695
|
0.00006
|
NM_000540.3(RYR1):c.12560G>A (p.Arg4187His)
|
rs767099429
|
0.00006
|
NM_000540.3(RYR1):c.13350G>A (p.Gly4450=)
|
rs748743312
|
0.00006
|
NM_000540.3(RYR1):c.14203C>T (p.Arg4735Trp)
|
rs766887342
|
0.00006
|
NM_000540.3(RYR1):c.14868+6T>A
|
rs759934562
|
0.00006
|
NM_000540.3(RYR1):c.14901C>G (p.Asp4967Glu)
|
rs201712715
|
0.00006
|
NM_000540.3(RYR1):c.14915C>T (p.Thr4972Ile)
|
rs199866740
|
0.00006
|
NM_000540.3(RYR1):c.152C>A (p.Thr51Asn)
|
rs193922749
|
0.00006
|
NM_000540.3(RYR1):c.1576+4G>A
|
rs374299527
|
0.00006
|
NM_000540.3(RYR1):c.2356G>A (p.Val786Ile)
|
rs369281291
|
0.00006
|
NM_000540.3(RYR1):c.2594A>T (p.His865Leu)
|
rs371862065
|
0.00006
|
NM_000540.3(RYR1):c.2603G>A (p.Arg868His)
|
rs750938678
|
0.00006
|
NM_000540.3(RYR1):c.2711C>T (p.Pro904Leu)
|
rs544742812
|
0.00006
|
NM_000540.3(RYR1):c.2844C>T (p.Asn948=)
|
rs761045773
|
0.00006
|
NM_000540.3(RYR1):c.2956C>T (p.Arg986Cys)
|
rs150993059
|
0.00006
|
NM_000540.3(RYR1):c.2998G>A (p.Val1000Met)
|
rs138209392
|
0.00006
|
NM_000540.3(RYR1):c.3389G>A (p.Arg1130His)
|
rs371498385
|
0.00006
|
NM_000540.3(RYR1):c.3619G>A (p.Val1207Met)
|
rs760235443
|
0.00006
|
NM_000540.3(RYR1):c.4038C>A (p.Asn1346Lys)
|
rs777049924
|
0.00006
|
NM_000540.3(RYR1):c.4620+13C>T
|
rs201971363
|
0.00006
|
NM_000540.3(RYR1):c.4865G>A (p.Arg1622Gln)
|
rs780579604
|
0.00006
|
NM_000540.3(RYR1):c.5384C>T (p.Pro1795Leu)
|
rs141379562
|
0.00006
|
NM_000540.3(RYR1):c.5385G>C (p.Pro1795=)
|
rs772422894
|
0.00006
|
NM_000540.3(RYR1):c.5921G>A (p.Arg1974Gln)
|
rs748907487
|
0.00006
|
NM_000540.3(RYR1):c.6208G>A (p.Val2070Met)
|
rs749274175
|
0.00006
|
NM_000540.3(RYR1):c.6302T>A (p.Met2101Lys)
|
rs746818096
|
0.00006
|
NM_000540.3(RYR1):c.6640G>A (p.Val2214Ile)
|
rs193922795
|
0.00006
|
NM_000540.3(RYR1):c.6796G>C (p.Gly2266Arg)
|
rs772803714
|
0.00006
|
NM_000540.3(RYR1):c.6891+3G>T
|
rs373333757
|
0.00006
|
NM_000540.3(RYR1):c.7229C>T (p.Pro2410Leu)
|
rs145787667
|
0.00006
|
NM_000540.3(RYR1):c.7336G>A (p.Gly2446Ser)
|
rs375148516
|
0.00006
|
NM_000540.3(RYR1):c.7344T>C (p.Gly2448=)
|
rs199813873
|
0.00006
|
NM_000540.3(RYR1):c.7487C>T (p.Pro2496Leu)
|
rs193922817
|
0.00006
|
NM_000540.3(RYR1):c.7839C>T (p.Tyr2613=)
|
rs758413758
|
0.00006
|
NM_000540.3(RYR1):c.7992C>T (p.Phe2664=)
|
rs150620191
|
0.00006
|
NM_000540.3(RYR1):c.8959G>C (p.Glu2987Gln)
|
rs368065870
|
0.00006
|
NM_000540.3(RYR1):c.9472C>T (p.Leu3158=)
|
rs770942162
|
0.00006
|
NM_000540.3(RYR1):c.9555-10C>T
|
rs774666035
|
0.00006
|
NM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp)
|
rs587784379
|
0.00006
|
NM_000540.3(RYR1):c.9731C>T (p.Pro3244Leu)
|
rs966321446
|
0.00006
|
NM_000540.3(RYR1):c.9758T>C (p.Ile3253Thr)
|
rs375626634
|
0.00006
|
NM_000540.3(RYR1):c.9772G>A (p.Glu3258Lys)
|
rs754431075
|
0.00006
|
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly)
|
rs367543058
|
0.00005
|
NM_000540.3(RYR1):c.10359C>T (p.Arg3453=)
|
rs376830015
|
0.00005
|
NM_000540.3(RYR1):c.11269A>G (p.Met3757Val)
|
rs189249768
|
0.00005
|
NM_000540.3(RYR1):c.12242C>T (p.Thr4081Met)
|
rs373406011
|
0.00005
|
NM_000540.3(RYR1):c.14283G>A (p.Pro4761=)
|
rs201157293
|
0.00005
|
NM_000540.3(RYR1):c.14344G>A (p.Gly4782Arg)
|
rs746538672
|
0.00005
|
NM_000540.3(RYR1):c.14563G>T (p.Val4855Leu)
|
rs528225943
|
0.00005
|
NM_000540.3(RYR1):c.14602G>A (p.Glu4868Lys)
|
rs187569997
|
0.00005
|
NM_000540.3(RYR1):c.1883G>A (p.Arg628His)
|
rs780833516
|
0.00005
|
NM_000540.3(RYR1):c.1956G>A (p.Ala652=)
|
rs202105428
|
0.00005
|
NM_000540.3(RYR1):c.2199G>C (p.Gly733=)
|
rs749285937
|
0.00005
|
NM_000540.3(RYR1):c.2269C>T (p.Arg757Cys)
|
rs890373465
|
0.00005
|
NM_000540.3(RYR1):c.2500C>T (p.Arg834Trp)
|
rs140686309
|
0.00005
|
NM_000540.3(RYR1):c.2835G>A (p.Ala945=)
|
rs576990255
|
0.00005
|
NM_000540.3(RYR1):c.2996G>A (p.Arg999His)
|
rs180714609
|
0.00005
|
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp)
|
rs118192173
|
0.00005
|
NM_000540.3(RYR1):c.3352G>A (p.Glu1118Lys)
|
rs578234912
|
0.00005
|
NM_000540.3(RYR1):c.3379C>T (p.Arg1127Cys)
|
rs753701890
|
0.00005
|
NM_000540.3(RYR1):c.340C>T (p.Arg114Cys)
|
rs756343485
|
0.00005
|
NM_000540.3(RYR1):c.3442G>A (p.Val1148Ile)
|
rs201174268
|
0.00005
|
NM_000540.3(RYR1):c.396C>T (p.Phe132=)
|
rs376494617
|
0.00005
|
NM_000540.3(RYR1):c.4113G>C (p.Arg1371Ser)
|
rs551509462
|
0.00005
|
NM_000540.3(RYR1):c.4236C>G (p.His1412Gln)
|
rs146206507
|
0.00005
|
NM_000540.3(RYR1):c.4306G>A (p.Val1436Met)
|
rs200289457
|
0.00005
|
NM_000540.3(RYR1):c.4346C>T (p.Ala1449Val)
|
rs775455157
|
0.00005
|
NM_000540.3(RYR1):c.4931A>G (p.Asn1644Ser)
|
rs1057519109
|
0.00005
|
NM_000540.3(RYR1):c.6418C>T (p.Arg2140Trp)
|
rs750275456
|
0.00005
|
NM_000540.3(RYR1):c.6651C>T (p.Gly2217=)
|
rs371006370
|
0.00005
|
NM_000540.3(RYR1):c.6910G>A (p.Gly2304Ser)
|
rs377080876
|
0.00005
|
NM_000540.3(RYR1):c.7153C>T (p.Arg2385Cys)
|
rs202111332
|
0.00005
|
NM_000540.3(RYR1):c.767G>A (p.Arg256His)
|
rs772767943
|
0.00005
|
NM_000540.3(RYR1):c.7699C>T (p.Pro2567Ser)
|
rs374982449
|
0.00005
|
NM_000540.3(RYR1):c.7720C>T (p.His2574Tyr)
|
rs144203769
|
0.00005
|
NM_000540.3(RYR1):c.7800T>C (p.Arg2600=)
|
rs762682222
|
0.00005
|
NM_000540.3(RYR1):c.7844G>A (p.Arg2615His)
|
rs145183043
|
0.00005
|
NM_000540.3(RYR1):c.7854G>A (p.Met2618Ile)
|
rs775112172
|
0.00005
|
NM_000540.3(RYR1):c.8162C>T (p.Ser2721Phe)
|
rs781377124
|
0.00005
|
NM_000540.3(RYR1):c.8816+4C>T
|
rs746537111
|
0.00005
|
NM_000540.3(RYR1):c.8880G>C (p.Leu2960=)
|
rs763905757
|
0.00005
|
NM_000540.3(RYR1):c.9348G>A (p.Ser3116=)
|
rs763655831
|
0.00005
|
NM_000540.3(RYR1):c.9456C>T (p.Phe3152=)
|
rs369206584
|
0.00005
|
NM_000540.3(RYR1):c.9555-4C>T
|
rs1417337927
|
0.00005
|
NM_000540.3(RYR1):c.9701A>G (p.Asn3234Ser)
|
rs539829239
|
0.00005
|
NM_000540.3(RYR1):c.9874C>T (p.Pro3292Ser)
|
rs144135230
|
0.00005
|
NM_000540.3(RYR1):c.10292C>T (p.Ala3431Val)
|
rs561605726
|
0.00004
|
NM_000540.3(RYR1):c.10458C>T (p.Ser3486=)
|
rs770132934
|
0.00004
|
NM_000540.3(RYR1):c.10485G>C (p.Lys3495Asn)
|
rs753726014
|
0.00004
|
NM_000540.3(RYR1):c.10505G>A (p.Arg3502Gln)
|
rs369422480
|
0.00004
|
NM_000540.3(RYR1):c.10520C>T (p.Thr3507Met)
|
rs371839408
|
0.00004
|
NM_000540.3(RYR1):c.10577C>T (p.Ala3526Val)
|
rs374061380
|
0.00004
|
NM_000540.3(RYR1):c.10917G>A (p.Thr3639=)
|
rs371952058
|
0.00004
|
NM_000540.3(RYR1):c.11023G>C (p.Asp3675His)
|
rs145026307
|
0.00004
|
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.11778+3G>C
|
rs758215068
|
0.00004
|
NM_000540.3(RYR1):c.12028G>A (p.Glu4010Lys)
|
rs755088027
|
0.00004
|
NM_000540.3(RYR1):c.12210T>G (p.Ile4070Met)
|
rs765758001
|
0.00004
|
NM_000540.3(RYR1):c.12310G>A (p.Gly4104Ser)
|
rs769120898
|
0.00004
|
NM_000540.3(RYR1):c.12324G>C (p.Gln4108His)
|
rs762061959
|
0.00004
|
NM_000540.3(RYR1):c.1250T>C (p.Leu417Pro)
|
rs764262446
|
0.00004
|
NM_000540.3(RYR1):c.12810_12818del (p.4271GAE[1])
|
rs759582696
|
0.00004
|
NM_000540.3(RYR1):c.12823G>A (p.Ala4275Thr)
|
rs761125496
|
0.00004
|
NM_000540.3(RYR1):c.12910G>A (p.Ala4304Thr)
|
rs959143903
|
0.00004
|
NM_000540.3(RYR1):c.13242C>G (p.Asp4414Glu)
|
rs994374423
|
0.00004
|
NM_000540.3(RYR1):c.13269G>A (p.Glu4423=)
|
rs896569937
|
0.00004
|
NM_000540.3(RYR1):c.13465C>T (p.Pro4489Ser)
|
rs781766697
|
0.00004
|
NM_000540.3(RYR1):c.13498G>A (p.Glu4500Lys)
|
rs752192756
|
0.00004
|
NM_000540.3(RYR1):c.13623C>G (p.Phe4541Leu)
|
rs777869263
|
0.00004
|
NM_000540.3(RYR1):c.13760C>T (p.Pro4587Leu)
|
rs143520367
|
0.00004
|
NM_000540.3(RYR1):c.13886T>C (p.Val4629Ala)
|
rs758162737
|
0.00004
|
NM_000540.3(RYR1):c.13934G>A (p.Arg4645Gln)
|
rs193922860
|
0.00004
|
NM_000540.3(RYR1):c.13998+3G>A
|
rs765404523
|
0.00004
|
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met)
|
rs118192140
|
0.00004
|
NM_000540.3(RYR1):c.14449A>G (p.Ile4817Val)
|
rs143988412
|
0.00004
|
NM_000540.3(RYR1):c.14468C>T (p.Thr4823Met)
|
rs148540135
|
0.00004
|
NM_000540.3(RYR1):c.14511+3G>A
|
rs775443082
|
0.00004
|
NM_000540.3(RYR1):c.14538G>C (p.Ala4846=)
|
rs763954439
|
0.00004
|
NM_000540.3(RYR1):c.14700C>T (p.Asp4900=)
|
rs759063883
|
0.00004
|
NM_000540.3(RYR1):c.14912C>T (p.Thr4971Met)
|
rs779835717
|
0.00004
|
NM_000540.3(RYR1):c.1735G>A (p.Glu579Lys)
|
rs753907367
|
0.00004
|
NM_000540.3(RYR1):c.1768G>T (p.Asp590Tyr)
|
rs552148844
|
0.00004
|
NM_000540.3(RYR1):c.181C>G (p.Leu61Val)
|
rs769890047
|
0.00004
|
NM_000540.3(RYR1):c.1952G>A (p.Arg651Gln)
|
rs567997185
|
0.00004
|
NM_000540.3(RYR1):c.1955C>T (p.Ala652Val)
|
rs757908433
|
0.00004
|
NM_000540.3(RYR1):c.2074A>G (p.Thr692Ala)
|
rs763679528
|
0.00004
|
NM_000540.3(RYR1):c.2456G>A (p.Arg819Gln)
|
rs752831432
|
0.00004
|
NM_000540.3(RYR1):c.2467G>C (p.Glu823Gln)
|
rs370490388
|
0.00004
|
NM_000540.3(RYR1):c.251C>T (p.Thr84Met)
|
rs186983396
|
0.00004
|
NM_000540.3(RYR1):c.2527C>T (p.Arg843Cys)
|
rs750233243
|
0.00004
|
NM_000540.3(RYR1):c.2653C>T (p.Arg885Cys)
|
rs775256033
|
0.00004
|
NM_000540.3(RYR1):c.2659G>A (p.Glu887Lys)
|
rs766827383
|
0.00004
|
NM_000540.3(RYR1):c.283G>A (p.Gly95Arg)
|
rs768518462
|
0.00004
|
NM_000540.3(RYR1):c.2920G>A (p.Val974Met)
|
rs748676912
|
0.00004
|
NM_000540.3(RYR1):c.3021C>T (p.Ser1007=)
|
rs143891703
|
0.00004
|
NM_000540.3(RYR1):c.3043C>T (p.Arg1015Cys)
|
rs139006437
|
0.00004
|
NM_000540.3(RYR1):c.3108C>A (p.Asp1036Glu)
|
rs759317223
|
0.00004
|
NM_000540.3(RYR1):c.3208C>T (p.Arg1070Trp)
|
rs368950468
|
0.00004
|
NM_000540.3(RYR1):c.3209G>A (p.Arg1070Gln)
|
rs777962787
|
0.00004
|
NM_000540.3(RYR1):c.3380G>A (p.Arg1127His)
|
rs545579559
|
0.00004
|
NM_000540.3(RYR1):c.3548T>C (p.Ile1183Thr)
|
rs761386401
|
0.00004
|
NM_000540.3(RYR1):c.3568G>A (p.Val1190Ile)
|
rs749283427
|
0.00004
|
NM_000540.3(RYR1):c.3853A>G (p.Met1285Val)
|
rs752075589
|
0.00004
|
NM_000540.3(RYR1):c.3950C>T (p.Pro1317Leu)
|
rs781145954
|
0.00004
|
NM_000540.3(RYR1):c.4108G>A (p.Ala1370Thr)
|
rs766147636
|
0.00004
|
NM_000540.3(RYR1):c.4213C>A (p.Pro1405Thr)
|
rs376567445
|
0.00004
|
NM_000540.3(RYR1):c.4217C>T (p.Thr1406Met)
|
rs187496208
|
0.00004
|
NM_000540.3(RYR1):c.4270G>A (p.Glu1424Lys)
|
rs543630280
|
0.00004
|
NM_000540.3(RYR1):c.4361C>T (p.Pro1454Leu)
|
rs149737658
|
0.00004
|
NM_000540.3(RYR1):c.4519C>T (p.Arg1507Trp)
|
rs752736122
|
0.00004
|
NM_000540.3(RYR1):c.4657G>A (p.Val1553Ile)
|
rs775732541
|
0.00004
|
NM_000540.3(RYR1):c.4748G>A (p.Arg1583His)
|
rs778411704
|
0.00004
|
NM_000540.3(RYR1):c.4759G>A (p.Ala1587Thr)
|
rs1030955858
|
0.00004
|
NM_000540.3(RYR1):c.4852C>T (p.Arg1618Cys)
|
rs924891897
|
0.00004
|
NM_000540.3(RYR1):c.4858G>A (p.Gly1620Ser)
|
rs190382569
|
0.00004
|
NM_000540.3(RYR1):c.4963C>T (p.Arg1655Cys)
|
rs371777056
|
0.00004
|
NM_000540.3(RYR1):c.5287C>T (p.Pro1763Ser)
|
rs202225176
|
0.00004
|
NM_000540.3(RYR1):c.5340_5341del (p.Cys1781fs)
|
rs779723153
|
0.00004
|
NM_000540.3(RYR1):c.5638G>A (p.Glu1880Lys)
|
rs777733662
|
0.00004
|
NM_000540.3(RYR1):c.5671G>A (p.Glu1891Lys)
|
rs990397545
|
0.00004
|
NM_000540.3(RYR1):c.6086A>G (p.Gln2029Arg)
|
rs1484562818
|
0.00004
|
NM_000540.3(RYR1):c.6274+1G>A
|
rs1226228092
|
0.00004
|
NM_000540.3(RYR1):c.6385G>A (p.Asp2129Asn)
|
rs772695891
|
0.00004
|
NM_000540.3(RYR1):c.6671G>A (p.Arg2224His)
|
rs537994744
|
0.00004
|
NM_000540.3(RYR1):c.6730C>T (p.Arg2244Trp)
|
rs772753793
|
0.00004
|
NM_000540.3(RYR1):c.7064G>A (p.Arg2355Gln)
|
rs144526634
|
0.00004
|
NM_000540.3(RYR1):c.7204C>T (p.Arg2402Trp)
|
rs575780192
|
0.00004
|
NM_000540.3(RYR1):c.721C>T (p.Arg241Cys)
|
rs751622747
|
0.00004
|
NM_000540.3(RYR1):c.72C>T (p.Ser24=)
|
rs754645461
|
0.00004
|
NM_000540.3(RYR1):c.7349C>T (p.Ala2450Val)
|
rs141959437
|
0.00004
|
NM_000540.3(RYR1):c.766C>T (p.Arg256Cys)
|
rs747769229
|
0.00004
|
NM_000540.3(RYR1):c.7689C>G (p.Thr2563=)
|
rs781110591
|
0.00004
|
NM_000540.3(RYR1):c.7835G>A (p.Arg2612Lys)
|
rs769677939
|
0.00004
|
NM_000540.3(RYR1):c.8068-11G>A
|
rs779289075
|
0.00004
|
NM_000540.3(RYR1):c.8305G>A (p.Asp2769Asn)
|
rs566495420
|
0.00004
|
NM_000540.3(RYR1):c.872C>T (p.Ala291Val)
|
rs200572262
|
0.00004
|
NM_000540.3(RYR1):c.9082G>A (p.Gly3028Ser)
|
rs548280516
|
0.00004
|
NM_000540.3(RYR1):c.9091G>A (p.Ala3031Thr)
|
rs756311466
|
0.00004
|
NM_000540.3(RYR1):c.9354G>A (p.Ala3118=)
|
rs146408926
|
0.00004
|
NM_000540.3(RYR1):c.9477C>T (p.Asp3159=)
|
rs139409128
|
0.00004
|
NM_000540.3(RYR1):c.9640A>G (p.Asn3214Asp)
|
rs377541724
|
0.00004
|
NM_000540.3(RYR1):c.9818C>T (p.Thr3273Met)
|
rs371744890
|
0.00004
|
NM_000540.3(RYR1):c.9859C>T (p.Arg3287Cys)
|
rs201276068
|
0.00004
|
NM_000540.3(RYR1):c.9953A>G (p.Asn3318Ser)
|
rs769650528
|
0.00004
|
NM_000540.3(RYR1):c.9967A>G (p.Ile3323Val)
|
rs762667282
|
0.00004
|
NM_000540.3(RYR1):c.10053G>A (p.Pro3351=)
|
rs774096421
|
0.00003
|
NM_000540.3(RYR1):c.10229C>T (p.Pro3410Leu)
|
rs769196275
|
0.00003
|
NM_000540.3(RYR1):c.10259+6C>T
|
rs754022028
|
0.00003
|
NM_000540.3(RYR1):c.10262C>T (p.Ala3421Val)
|
rs772280687
|
0.00003
|
NM_000540.3(RYR1):c.10291G>A (p.Ala3431Thr)
|
rs553113819
|
0.00003
|
NM_000540.3(RYR1):c.10493G>A (p.Arg3498His)
|
rs529215921
|
0.00003
|
NM_000540.3(RYR1):c.10578G>A (p.Ala3526=)
|
rs368360689
|
0.00003
|
NM_000540.3(RYR1):c.10619A>T (p.Tyr3540Phe)
|
rs752477271
|
0.00003
|
NM_000540.3(RYR1):c.10686+3A>G
|
rs781599348
|
0.00003
|
NM_000540.3(RYR1):c.10927A>C (p.Asn3643His)
|
rs924687841
|
0.00003
|
NM_000540.3(RYR1):c.1099C>T (p.Arg367Trp)
|
rs140037232
|
0.00003
|
NM_000540.3(RYR1):c.11193+15C>G
|
rs370928637
|
0.00003
|
NM_000540.3(RYR1):c.1126A>G (p.Met376Val)
|
rs376652821
|
0.00003
|
NM_000540.3(RYR1):c.11615A>C (p.Lys3872Thr)
|
rs753061108
|
0.00003
|
NM_000540.3(RYR1):c.12335C>T (p.Ser4112Leu)
|
rs193922847
|
0.00003
|
NM_000540.3(RYR1):c.12407G>A (p.Arg4136His)
|
rs572373150
|
0.00003
|
NM_000540.3(RYR1):c.12679G>T (p.Ala4227Ser)
|
rs969949769
|
0.00003
|
NM_000540.3(RYR1):c.12797G>A (p.Gly4266Asp)
|
rs1445617605
|
0.00003
|
NM_000540.3(RYR1):c.12840G>T (p.Ala4280=)
|
rs1292456827
|
0.00003
|
NM_000540.3(RYR1):c.12878C>T (p.Ala4293Val)
|
rs1223090052
|
0.00003
|
NM_000540.3(RYR1):c.13069C>A (p.Leu4357Met)
|
rs1236057233
|
0.00003
|
NM_000540.3(RYR1):c.13082C>T (p.Ser4361Leu)
|
rs1385549951
|
0.00003
|
NM_000540.3(RYR1):c.13168G>C (p.Glu4390Gln)
|
rs1413644550
|
0.00003
|
NM_000540.3(RYR1):c.13207G>A (p.Ala4403Thr)
|
rs1051206491
|
0.00003
|
NM_000540.3(RYR1):c.13271A>C (p.Glu4424Ala)
|
rs752665367
|
0.00003
|
NM_000540.3(RYR1):c.13369A>T (p.Met4457Leu)
|
rs867851900
|
0.00003
|
NM_000540.3(RYR1):c.13448T>G (p.Val4483Gly)
|
rs931169553
|
0.00003
|
NM_000540.3(RYR1):c.13505A>G (p.Glu4502Gly)
|
rs139647387
|
0.00003
|
NM_000540.3(RYR1):c.13691G>A (p.Arg4564Gln)
|
rs864309559
|
0.00003
|
NM_000540.3(RYR1):c.13774G>A (p.Asp4592Asn)
|
rs572103362
|
0.00003
|
NM_000540.3(RYR1):c.14314A>G (p.Ile4772Val)
|
rs371953926
|
0.00003
|
NM_000540.3(RYR1):c.14601C>T (p.Ser4867=)
|
rs370469515
|
0.00003
|
NM_000540.3(RYR1):c.14717C>G (p.Ala4906Gly)
|
rs118192153
|
0.00003
|
NM_000540.3(RYR1):c.14782A>G (p.Ile4928Val)
|
rs1286759539
|
0.00003
|
NM_000540.3(RYR1):c.14928C>G (p.Phe4976Leu)
|
rs368874586
|
0.00003
|
NM_000540.3(RYR1):c.15067T>C (p.Phe5023Leu)
|
rs753078398
|
0.00003
|
NM_000540.3(RYR1):c.165+5G>A
|
rs371043203
|
0.00003
|
NM_000540.3(RYR1):c.2365C>T (p.Arg789Trp)
|
rs765445445
|
0.00003
|
NM_000540.3(RYR1):c.2390G>A (p.Gly797Asp)
|
rs896357123
|
0.00003
|
NM_000540.3(RYR1):c.2450G>A (p.Arg817Gln)
|
rs759902314
|
0.00003
|
NM_000540.3(RYR1):c.2480A>T (p.Glu827Val)
|
rs758782788
|
0.00003
|
NM_000540.3(RYR1):c.2489G>A (p.Arg830Gln)
|
rs777191617
|
0.00003
|
NM_000540.3(RYR1):c.2937G>A (p.Ala979=)
|
rs775442275
|
0.00003
|
NM_000540.3(RYR1):c.2995C>T (p.Arg999Cys)
|
rs150442096
|
0.00003
|
NM_000540.3(RYR1):c.3022G>A (p.Ala1008Thr)
|
rs770447929
|
0.00003
|
NM_000540.3(RYR1):c.3047G>A (p.Arg1016Gln)
|
rs373541911
|
0.00003
|
NM_000540.3(RYR1):c.3128G>A (p.Arg1043His)
|
rs374776563
|
0.00003
|
NM_000540.3(RYR1):c.3175C>T (p.Pro1059Ser)
|
rs558190898
|
0.00003
|
NM_000540.3(RYR1):c.3179-16C>T
|
rs982271145
|
0.00003
|
NM_000540.3(RYR1):c.3256C>T (p.Arg1086Cys)
|
rs373618219
|
0.00003
|
NM_000540.3(RYR1):c.3692G>A (p.Arg1231His)
|
rs558969466
|
0.00003
|
NM_000540.3(RYR1):c.370C>T (p.Arg124Cys)
|
rs765121148
|
0.00003
|
NM_000540.3(RYR1):c.3815C>T (p.Thr1272Ile)
|
rs750818753
|
0.00003
|
NM_000540.3(RYR1):c.4003C>T (p.Arg1335Cys)
|
rs767382534
|
0.00003
|
NM_000540.3(RYR1):c.4072G>A (p.Gly1358Arg)
|
rs868508791
|
0.00003
|
NM_000540.3(RYR1):c.4258C>T (p.Arg1420Cys)
|
rs760625346
|
0.00003
|
NM_000540.3(RYR1):c.4339G>A (p.Val1447Met)
|
rs370851779
|
0.00003
|
NM_000540.3(RYR1):c.4415C>T (p.Thr1472Met)
|
rs1318296270
|
0.00003
|
NM_000540.3(RYR1):c.4729G>A (p.Ala1577Thr)
|
rs118192120
|
0.00003
|
NM_000540.3(RYR1):c.4757C>T (p.Pro1586Leu)
|
rs752060627
|
0.00003
|
NM_000540.3(RYR1):c.5067C>G (p.Asp1689Glu)
|
rs777209922
|
0.00003
|
NM_000540.3(RYR1):c.5120G>A (p.Arg1707His)
|
rs371566475
|
0.00003
|
NM_000540.3(RYR1):c.537+13G>A
|
rs754569485
|
0.00003
|
NM_000540.3(RYR1):c.5891G>A (p.Arg1964His)
|
rs767487116
|
0.00003
|
NM_000540.3(RYR1):c.6050A>G (p.Asp2017Gly)
|
rs1302216965
|
0.00003
|
NM_000540.3(RYR1):c.6078G>A (p.Glu2026=)
|
rs201310026
|
0.00003
|
NM_000540.3(RYR1):c.614G>C (p.Cys205Ser)
|
rs201834803
|
0.00003
|
NM_000540.3(RYR1):c.6211C>T (p.Arg2071Trp)
|
rs147441124
|
0.00003
|
NM_000540.3(RYR1):c.6318C>A (p.Ala2106=)
|
rs769443054
|
0.00003
|
NM_000540.3(RYR1):c.6343G>A (p.Glu2115Lys)
|
rs147197176
|
0.00003
|
NM_000540.3(RYR1):c.6352C>T (p.Arg2118Trp)
|
rs148660840
|
0.00003
|
NM_000540.3(RYR1):c.6374A>G (p.His2125Arg)
|
rs775112843
|
0.00003
|
NM_000540.3(RYR1):c.6813G>A (p.Thr2271=)
|
rs147786842
|
0.00003
|
NM_000540.3(RYR1):c.6838G>T (p.Val2280Phe)
|
rs193922797
|
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.7193G>A (p.Arg2398His)
|
rs757289154
|
0.00003
|
NM_000540.3(RYR1):c.7210G>A (p.Glu2404Lys)
|
rs111364296
|
0.00003
|
NM_000540.3(RYR1):c.722G>A (p.Arg241His)
|
rs552007612
|
0.00003
|
NM_000540.3(RYR1):c.7244G>A (p.Arg2415Gln)
|
rs201584482
|
0.00003
|
NM_000540.3(RYR1):c.7291G>A (p.Asp2431Asn)
|
rs193922810
|
0.00003
|
NM_000540.3(RYR1):c.7598C>T (p.Ala2533Val)
|
rs1085307809
|
0.00003
|
NM_000540.3(RYR1):c.7613C>T (p.Thr2538Met)
|
rs575446156
|
0.00003
|
NM_000540.3(RYR1):c.7754C>T (p.Thr2585Ile)
|
rs371934483
|
0.00003
|
NM_000540.3(RYR1):c.7755C>T (p.Thr2585=)
|
rs768702294
|
0.00003
|
NM_000540.3(RYR1):c.7771C>G (p.Arg2591Gly)
|
rs193922822
|
0.00003
|
NM_000540.3(RYR1):c.7781C>T (p.Ser2594Leu)
|
rs749564145
|
0.00003
|
NM_000540.3(RYR1):c.7836G>A (p.Arg2612=)
|
rs755128540
|
0.00003
|
NM_000540.3(RYR1):c.800+7C>T
|
rs762118960
|
0.00003
|
NM_000540.3(RYR1):c.8112C>T (p.Cys2704=)
|
rs763722972
|
0.00003
|
NM_000540.3(RYR1):c.8113G>A (p.Ala2705Thr)
|
rs536813036
|
0.00003
|
NM_000540.3(RYR1):c.820C>T (p.Arg274Cys)
|
rs770370125
|
0.00003
|
NM_000540.3(RYR1):c.821G>C (p.Arg274Pro)
|
rs368711923
|
0.00003
|
NM_000540.3(RYR1):c.825G>T (p.Trp275Cys)
|
rs138687891
|
0.00003
|
NM_000540.3(RYR1):c.845G>A (p.Arg282Gln)
|
rs201164249
|
0.00003
|
NM_000540.3(RYR1):c.850G>A (p.Val284Ile)
|
rs201388370
|
0.00003
|
NM_000540.3(RYR1):c.8686G>A (p.Ala2896Thr)
|
rs886054397
|
0.00003
|
NM_000540.3(RYR1):c.8752C>G (p.Arg2918Gly)
|
rs571701341
|
0.00003
|
NM_000540.3(RYR1):c.9347C>T (p.Ser3116Leu)
|
rs200238436
|
0.00003
|
NM_000540.3(RYR1):c.9457G>A (p.Gly3153Arg)
|
rs779410371
|
0.00003
|
NM_000540.3(RYR1):c.947G>T (p.Arg316Leu)
|
rs193922761
|
0.00003
|
NM_000540.3(RYR1):c.9586C>T (p.Arg3196Cys)
|
rs766362010
|
0.00003
|
NM_000540.3(RYR1):c.9624G>T (p.Pro3208=)
|
rs552470353
|
0.00003
|
NM_000540.3(RYR1):c.9723C>T (p.Pro3241=)
|
rs199828145
|
0.00003
|
NM_000540.3(RYR1):c.9811G>A (p.Glu3271Lys)
|
rs773026490
|
0.00003
|
NM_000540.3(RYR1):c.9860G>A (p.Arg3287His)
|
rs756487708
|
0.00003
|
NM_000540.3(RYR1):c.9862G>A (p.Gly3288Arg)
|
rs769054388
|
0.00003
|
NM_000540.3(RYR1):c.9895G>A (p.Gly3299Ser)
|
rs372203483
|
0.00003
|
NM_000540.3(RYR1):c.9899C>T (p.Ala3300Val)
|
rs749718772
|
0.00003
|
NM_000540.3(RYR1):c.9991G>A (p.Glu3331Lys)
|
rs754426488
|
0.00003
|
NM_000540.3(RYR1):c.-31C>T
|
rs375755030
|
0.00002
|
NM_000540.3(RYR1):c.10067C>T (p.Ser3356Phe)
|
rs771705965
|
0.00002
|
NM_000540.3(RYR1):c.10139G>A (p.Arg3380His)
|
rs754760055
|
0.00002
|
NM_000540.3(RYR1):c.10171G>A (p.Glu3391Lys)
|
rs1216966090
|
0.00002
|
NM_000540.3(RYR1):c.10183C>T (p.Arg3395Trp)
|
rs761996554
|
0.00002
|
NM_000540.3(RYR1):c.10230G>A (p.Pro3410=)
|
rs774663618
|
0.00002
|
NM_000540.3(RYR1):c.10282A>G (p.Asn3428Asp)
|
rs763976533
|
0.00002
|
NM_000540.3(RYR1):c.10358G>A (p.Arg3453His)
|
rs187802601
|
0.00002
|
NM_000540.3(RYR1):c.10422C>G (p.Asn3474Lys)
|
rs769661588
|
0.00002
|
NM_000540.3(RYR1):c.10478G>A (p.Arg3493His)
|
rs756062833
|
0.00002
|
NM_000540.3(RYR1):c.10489A>C (p.Lys3497Gln)
|
rs754849970
|
0.00002
|
NM_000540.3(RYR1):c.10621G>A (p.Ala3541Thr)
|
rs376338203
|
0.00002
|
NM_000540.3(RYR1):c.10729C>T (p.Arg3577Trp)
|
rs538497899
|
0.00002
|
NM_000540.3(RYR1):c.10916C>T (p.Thr3639Met)
|
rs369390137
|
0.00002
|
NM_000540.3(RYR1):c.10970A>G (p.Tyr3657Cys)
|
rs748470645
|
0.00002
|
NM_000540.3(RYR1):c.11044G>C (p.Glu3682Gln)
|
rs1441652300
|
0.00002
|
NM_000540.3(RYR1):c.11133G>A (p.Thr3711=)
|
rs368980166
|
0.00002
|
NM_000540.3(RYR1):c.11198G>A (p.Cys3733Tyr)
|
rs777478644
|
0.00002
|
NM_000540.3(RYR1):c.11302C>T (p.Arg3768Trp)
|
rs910313832
|
0.00002
|
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp)
|
rs763112609
|
0.00002
|
NM_000540.3(RYR1):c.11385C>T (p.Ser3795=)
|
rs757745087
|
0.00002
|
NM_000540.3(RYR1):c.11443A>T (p.Met3815Leu)
|
rs368909156
|
0.00002
|
NM_000540.3(RYR1):c.115G>A (p.Glu39Lys)
|
rs539201276
|
0.00002
|
NM_000540.3(RYR1):c.11600G>A (p.Arg3867His)
|
rs758651267
|
0.00002
|
NM_000540.3(RYR1):c.11726C>T (p.Thr3909Met)
|
rs762258310
|
0.00002
|
NM_000540.3(RYR1):c.11778+5G>A
|
rs777559751
|
0.00002
|
NM_000540.3(RYR1):c.11920G>A (p.Gly3974Arg)
|
rs774432541
|
0.00002
|
NM_000540.3(RYR1):c.1201C>T (p.Arg401Cys)
|
rs193922764
|
0.00002
|
NM_000540.3(RYR1):c.12064A>G (p.Met4022Val)
|
rs773040531
|
0.00002
|
NM_000540.3(RYR1):c.12187A>G (p.Met4063Val)
|
rs181968345
|
0.00002
|
NM_000540.3(RYR1):c.122T>C (p.Phe41Ser)
|
rs766407858
|
0.00002
|
NM_000540.3(RYR1):c.12322C>G (p.Gln4108Glu)
|
rs774414325
|
0.00002
|
NM_000540.3(RYR1):c.12355A>T (p.Asn4119Tyr)
|
rs193922848
|
0.00002
|
NM_000540.3(RYR1):c.12479A>T (p.His4160Leu)
|
rs780793478
|
0.00002
|
NM_000540.3(RYR1):c.12624+9A>G
|
rs548515798
|
0.00002
|
NM_000540.3(RYR1):c.1264G>A (p.Gly422Arg)
|
rs757157750
|
0.00002
|
NM_000540.3(RYR1):c.12749T>C (p.Ile4250Thr)
|
rs1316713022
|
0.00002
|
NM_000540.3(RYR1):c.13015G>C (p.Ala4339Pro)
|
rs1064797241
|
0.00002
|
NM_000540.3(RYR1):c.13180G>A (p.Glu4394Lys)
|
rs748844266
|
0.00002
|
NM_000540.3(RYR1):c.13225A>G (p.Ser4409Gly)
|
rs1211340506
|
0.00002
|
NM_000540.3(RYR1):c.13417A>G (p.Ile4473Val)
|
rs1162688814
|
0.00002
|
NM_000540.3(RYR1):c.13568A>G (p.Lys4523Arg)
|
rs762657816
|
0.00002
|
NM_000540.3(RYR1):c.13617C>T (p.Gly4539=)
|
rs2302296
|
0.00002
|
NM_000540.3(RYR1):c.1372T>G (p.Leu458Val)
|
rs369932139
|
0.00002
|
NM_000540.3(RYR1):c.13867G>A (p.Asp4623Asn)
|
rs547709829
|
0.00002
|
NM_000540.3(RYR1):c.13933C>T (p.Arg4645Trp)
|
rs377667641
|
0.00002
|
NM_000540.3(RYR1):c.13978A>T (p.Ile4660Phe)
|
rs776977485
|
0.00002
|
NM_000540.3(RYR1):c.13990T>C (p.Cys4664Arg)
|
rs759500310
|
0.00002
|
NM_000540.3(RYR1):c.14132C>G (p.Ser4711Cys)
|
rs201147958
|
0.00002
|
NM_000540.3(RYR1):c.14173-2A>G
|
rs1189024951
|
0.00002
|
NM_000540.3(RYR1):c.14236C>A (p.Leu4746Met)
|
rs752910637
|
0.00002
|
NM_000540.3(RYR1):c.14646+20C>G
|
rs371199096
|
0.00002
|
NM_000540.3(RYR1):c.14647-1448T>C
|
rs867338086
|
0.00002
|
NM_000540.3(RYR1):c.14697G>A (p.Gly4899=)
|
rs770698609
|
0.00002
|
NM_000540.3(RYR1):c.14728T>A (p.Tyr4910Asn)
|
rs753961701
|
0.00002
|
NM_000540.3(RYR1):c.14803+3C>T
|
rs1202804699
|
0.00002
|
NM_000540.3(RYR1):c.14817C>T (p.Asp4939=)
|
rs193922895
|
0.00002
|
NM_000540.3(RYR1):c.14970-5C>G
|
rs527738921
|
0.00002
|
NM_000540.3(RYR1):c.15061G>T (p.Asp5021Tyr)
|
rs779358618
|
0.00002
|
NM_000540.3(RYR1):c.15089G>A (p.Arg5030His)
|
rs747155223
|
0.00002
|
NM_000540.3(RYR1):c.1925+7C>T
|
rs559157737
|
0.00002
|
NM_000540.3(RYR1):c.1985A>G (p.Tyr662Cys)
|
rs1200789458
|
0.00002
|
NM_000540.3(RYR1):c.2045G>A (p.Arg682Gln)
|
rs372513400
|
0.00002
|
NM_000540.3(RYR1):c.2084C>G (p.Pro695Arg)
|
rs756620310
|
0.00002
|
NM_000540.3(RYR1):c.2107G>A (p.Gly703Ser)
|
rs773211015
|
0.00002
|
NM_000540.3(RYR1):c.2116G>A (p.Val706Ile)
|
rs141717554
|
0.00002
|
NM_000540.3(RYR1):c.2203C>T (p.His735Tyr)
|
rs771629253
|
0.00002
|
NM_000540.3(RYR1):c.2447C>T (p.Pro816Leu)
|
rs376149732
|
0.00002
|
NM_000540.3(RYR1):c.2528G>A (p.Arg843His)
|
rs144911352
|
0.00002
|
NM_000540.3(RYR1):c.2609G>A (p.Arg870Gln)
|
rs755152453
|
0.00002
|
NM_000540.3(RYR1):c.2635G>A (p.Glu879Lys)
|
rs746904839
|
0.00002
|
NM_000540.3(RYR1):c.2780C>T (p.Thr927Met)
|
rs751728775
|
0.00002
|
NM_000540.3(RYR1):c.2930C>T (p.Thr977Met)
|
rs375865052
|
0.00002
|
NM_000540.3(RYR1):c.2936C>T (p.Ala979Val)
|
rs769902566
|
0.00002
|
NM_000540.3(RYR1):c.3123C>T (p.Ala1041=)
|
rs569565316
|
0.00002
|
NM_000540.3(RYR1):c.3127C>T (p.Arg1043Cys)
|
rs111272095
|
0.00002
|
NM_000540.3(RYR1):c.3236C>G (p.Ser1079Cys)
|
rs773926353
|
0.00002
|
NM_000540.3(RYR1):c.3252C>T (p.Ser1084=)
|
rs144164620
|
0.00002
|
NM_000540.3(RYR1):c.3319G>A (p.Glu1107Lys)
|
rs777117206
|
0.00002
|
NM_000540.3(RYR1):c.3388C>T (p.Arg1130Cys)
|
rs746543447
|
0.00002
|
NM_000540.3(RYR1):c.3829G>A (p.Gly1277Ser)
|
rs755011605
|
0.00002
|
NM_000540.3(RYR1):c.3877C>A (p.Pro1293Thr)
|
rs146407179
|
0.00002
|
NM_000540.3(RYR1):c.3952G>A (p.Ala1318Thr)
|
rs755824571
|
0.00002
|
NM_000540.3(RYR1):c.3994G>A (p.Glu1332Lys)
|
rs896157692
|
0.00002
|
NM_000540.3(RYR1):c.4004G>A (p.Arg1335His)
|
rs750256869
|
0.00002
|
NM_000540.3(RYR1):c.4205C>T (p.Pro1402Leu)
|
rs766135560
|
0.00002
|
NM_000540.3(RYR1):c.424+4C>A
|
rs772775579
|
0.00002
|
NM_000540.3(RYR1):c.4520G>A (p.Arg1507Gln)
|
rs758206000
|
0.00002
|
NM_000540.3(RYR1):c.4637A>G (p.Lys1546Arg)
|
rs759947063
|
0.00002
|
NM_000540.3(RYR1):c.4678G>A (p.Val1560Ile)
|
rs767230160
|
0.00002
|
NM_000540.3(RYR1):c.4710C>T (p.Asn1570=)
|
rs763113534
|
0.00002
|
NM_000540.3(RYR1):c.4924G>A (p.Glu1642Lys)
|
rs1041070277
|
0.00002
|
NM_000540.3(RYR1):c.4980C>T (p.Arg1660=)
|
rs374115286
|
0.00002
|
NM_000540.3(RYR1):c.49G>A (p.Asp17Asn)
|
rs755878800
|
0.00002
|
NM_000540.3(RYR1):c.5021C>T (p.Ala1674Val)
|
rs1026509467
|
0.00002
|
NM_000540.3(RYR1):c.5086G>A (p.Ala1696Thr)
|
rs1179510850
|
0.00002
|
NM_000540.3(RYR1):c.5175C>A (p.Ser1725Arg)
|
rs763373996
|
0.00002
|
NM_000540.3(RYR1):c.5484C>T (p.Asp1828=)
|
rs775744847
|
0.00002
|
NM_000540.3(RYR1):c.5650G>C (p.Gly1884Arg)
|
rs776093828
|
0.00002
|
NM_000540.3(RYR1):c.569T>C (p.Val190Ala)
|
rs752090652
|
0.00002
|
NM_000540.3(RYR1):c.5869T>A (p.Ser1957Thr)
|
rs192932788
|
0.00002
|
NM_000540.3(RYR1):c.5920C>T (p.Arg1974Trp)
|
rs779733902
|
0.00002
|
NM_000540.3(RYR1):c.5962G>A (p.Ala1988Thr)
|
rs763360938
|
0.00002
|
NM_000540.3(RYR1):c.5981G>A (p.Arg1994His)
|
rs568165729
|
0.00002
|
NM_000540.3(RYR1):c.6184C>T (p.Arg2062Cys)
|
rs758631725
|
0.00002
|
NM_000540.3(RYR1):c.619C>T (p.Arg207Cys)
|
rs748140394
|
0.00002
|
NM_000540.3(RYR1):c.6207A>G (p.Lys2069=)
|
rs920135778
|
0.00002
|
NM_000540.3(RYR1):c.6247G>A (p.Glu2083Lys)
|
rs1472353338
|
0.00002
|
NM_000540.3(RYR1):c.625G>A (p.Glu209Lys)
|
rs771058055
|
0.00002
|
NM_000540.3(RYR1):c.6274C>T (p.Arg2092Trp)
|
rs772164452
|
0.00002
|
NM_000540.3(RYR1):c.6359T>C (p.Met2120Thr)
|
rs398123473
|
0.00002
|
NM_000540.3(RYR1):c.6469G>A (p.Glu2157Lys)
|
rs554066182
|
0.00002
|
NM_000540.3(RYR1):c.6599C>T (p.Ala2200Val)
|
rs193922791
|
0.00002
|
NM_000540.3(RYR1):c.6743G>A (p.Arg2248His)
|
rs140152019
|
0.00002
|
NM_000540.3(RYR1):c.6812C>T (p.Thr2271Met)
|
rs752643745
|
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.7027+4A>T
|
rs753538619
|
0.00002
|
NM_000540.3(RYR1):c.7154G>A (p.Arg2385His)
|
rs768343466
|
0.00002
|
NM_000540.3(RYR1):c.7434C>G (p.Thr2478=)
|
rs747434152
|
0.00002
|
NM_000540.3(RYR1):c.7488G>A (p.Pro2496=)
|
rs375997435
|
0.00002
|
NM_000540.3(RYR1):c.7600G>A (p.Ala2534Thr)
|
rs1398337259
|
0.00002
|
NM_000540.3(RYR1):c.7615-5C>T
|
rs768008924
|
0.00002
|
NM_000540.3(RYR1):c.7616C>T (p.Ala2539Val)
|
rs761057071
|
0.00002
|
NM_000540.3(RYR1):c.7631C>G (p.Thr2544Ser)
|
rs146326299
|
0.00002
|
NM_000540.3(RYR1):c.7760A>G (p.Tyr2587Cys)
|
rs767553612
|
0.00002
|
NM_000540.3(RYR1):c.7778G>A (p.Arg2593His)
|
rs751180702
|
0.00002
|
NM_000540.3(RYR1):c.7853T>C (p.Met2618Thr)
|
rs769326916
|
0.00002
|
NM_000540.3(RYR1):c.7855C>T (p.Leu2619=)
|
rs762212220
|
0.00002
|
NM_000540.3(RYR1):c.7897C>G (p.Leu2633Val)
|
rs757228479
|
0.00002
|
NM_000540.3(RYR1):c.8093T>C (p.Met2698Thr)
|
rs185021599
|
0.00002
|
NM_000540.3(RYR1):c.8115C>T (p.Ala2705=)
|
rs761249404
|
0.00002
|
NM_000540.3(RYR1):c.8137G>A (p.Asp2713Asn)
|
rs765571437
|
0.00002
|
NM_000540.3(RYR1):c.8212C>T (p.Arg2738Trp)
|
rs772766489
|
0.00002
|
NM_000540.3(RYR1):c.844C>T (p.Arg282Trp)
|
rs1057518970
|
0.00002
|
NM_000540.3(RYR1):c.8696G>C (p.Gly2899Ala)
|
rs970107177
|
0.00002
|
NM_000540.3(RYR1):c.8771A>G (p.Gln2924Arg)
|
rs753533928
|
0.00002
|
NM_000540.3(RYR1):c.890G>A (p.Gly297Asp)
|
rs769904500
|
0.00002
|
NM_000540.3(RYR1):c.8921T>C (p.Ile2974Thr)
|
rs1020896447
|
0.00002
|
NM_000540.3(RYR1):c.907G>A (p.Ala303Thr)
|
rs141764906
|
0.00002
|
NM_000540.3(RYR1):c.9122+8G>A
|
rs772116480
|
0.00002
|
NM_000540.3(RYR1):c.9555-14G>A
|
rs763353979
|
0.00002
|
NM_000540.3(RYR1):c.9587G>A (p.Arg3196His)
|
rs1064797240
|
0.00002
|
NM_000540.3(RYR1):c.9808A>T (p.Ile3270Phe)
|
rs761792934
|
0.00002
|
NM_000540.3(RYR1):c.9825C>T (p.Pro3275=)
|
rs753425281
|
0.00002
|
NM_000540.3(RYR1):c.9892G>A (p.Ala3298Thr)
|
rs544339193
|
0.00002
|
NM_000540.3(RYR1):c.9916G>A (p.Ala3306Thr)
|
rs770907655
|
0.00002
|
NM_000540.3(RYR1):c.9941C>G (p.Ser3314Cys)
|
rs776382789
|
0.00002
|
NM_000540.3(RYR1):c.9971T>C (p.Val3324Ala)
|
rs141515745
|
0.00002
|
NM_000540.3(RYR1):c.9995C>G (p.Ala3332Gly)
|
rs1309417886
|
0.00002
|
NM_000540.3(RYR1):c.*7C>G
|
rs398123468
|
0.00001
|
NM_000540.3(RYR1):c.10010G>A (p.Arg3337Gln)
|
rs868761398
|
0.00001
|
NM_000540.3(RYR1):c.10018+7C>T
|
rs797045928
|
0.00001
|
NM_000540.3(RYR1):c.10019T>C (p.Val3340Ala)
|
rs765507146
|
0.00001
|
NM_000540.3(RYR1):c.10034T>C (p.Ile3345Thr)
|
rs757271636
|
0.00001
|
NM_000540.3(RYR1):c.10041C>T (p.Ser3347=)
|
rs1379806132
|
0.00001
|
NM_000540.3(RYR1):c.10043G>A (p.Arg3348His)
|
rs193922834
|
0.00001
|
NM_000540.3(RYR1):c.10049G>A (p.Arg3350Gln)
|
rs538500669
|
0.00001
|
NM_000540.3(RYR1):c.10052C>T (p.Pro3351Leu)
|
rs970909296
|
0.00001
|
NM_000540.3(RYR1):c.10147G>A (p.Ala3383Thr)
|
rs747790775
|
0.00001
|
NM_000540.3(RYR1):c.10154C>T (p.Ala3385Val)
|
rs772566556
|
0.00001
|
NM_000540.3(RYR1):c.10170C>T (p.Gly3390=)
|
rs369239179
|
0.00001
|
NM_000540.3(RYR1):c.10189G>A (p.Glu3397Lys)
|
rs201339536
|
0.00001
|
NM_000540.3(RYR1):c.10208G>A (p.Arg3403Gln)
|
rs777437090
|
0.00001
|
NM_000540.3(RYR1):c.10234C>T (p.Leu3412Phe)
|
rs146754065
|
0.00001
|
NM_000540.3(RYR1):c.10307G>A (p.Arg3436Lys)
|
rs574486124
|
0.00001
|
NM_000540.3(RYR1):c.10318G>A (p.Glu3440Lys)
|
rs1971294742
|
0.00001
|
NM_000540.3(RYR1):c.10360G>A (p.Glu3454Lys)
|
rs1446961656
|
0.00001
|
NM_000540.3(RYR1):c.10383G>C (p.Gln3461His)
|
rs1159315581
|
0.00001
|
NM_000540.3(RYR1):c.10398C>T (p.Asn3466=)
|
rs1335486327
|
0.00001
|
NM_000540.3(RYR1):c.10434G>A (p.Met3478Ile)
|
rs764641752
|
0.00001
|
NM_000540.3(RYR1):c.10440+3C>T
|
rs564297039
|
0.00001
|
NM_000540.3(RYR1):c.10441-8T>C
|
rs755330618
|
0.00001
|
NM_000540.3(RYR1):c.10451T>C (p.Ile3484Thr)
|
rs757272442
|
0.00001
|
NM_000540.3(RYR1):c.10459G>A (p.Gly3487Ser)
|
rs371645169
|
0.00001
|
NM_000540.3(RYR1):c.10480A>G (p.Thr3494Ala)
|
rs779971797
|
0.00001
|
NM_000540.3(RYR1):c.10496G>C (p.Arg3499Pro)
|
rs138324438
|
0.00001
|
NM_000540.3(RYR1):c.10504C>T (p.Arg3502Trp)
|
rs375127981
|
0.00001
|
NM_000540.3(RYR1):c.10582A>G (p.Thr3528Ala)
|
rs562359442
|
0.00001
|
NM_000540.3(RYR1):c.10594C>T (p.Leu3532Phe)
|
rs1131691407
|
0.00001
|
NM_000540.3(RYR1):c.10609A>G (p.Lys3537Glu)
|
rs1009040238
|
0.00001
|
NM_000540.3(RYR1):c.10651G>A (p.Glu3551Lys)
|
rs753260772
|
0.00001
|
NM_000540.3(RYR1):c.10681G>A (p.Gly3561Arg)
|
rs771320029
|
0.00001
|
NM_000540.3(RYR1):c.10686+4T>C
|
rs1188156028
|
0.00001
|
NM_000540.3(RYR1):c.10694G>T (p.Gly3565Val)
|
rs761545088
|
0.00001
|
NM_000540.3(RYR1):c.10730G>A (p.Arg3577Gln)
|
rs372914229
|
0.00001
|
NM_000540.3(RYR1):c.10735G>A (p.Val3579Ile)
|
rs764650501
|
0.00001
|
NM_000540.3(RYR1):c.10760A>G (p.Asp3587Gly)
|
rs778763130
|
0.00001
|
NM_000540.3(RYR1):c.10768G>A (p.Glu3590Lys)
|
rs746611627
|
0.00001
|
NM_000540.3(RYR1):c.10792G>A (p.Glu3598Lys)
|
rs1322440459
|
0.00001
|
NM_000540.3(RYR1):c.1087C>T (p.Pro363Ser)
|
rs367995800
|
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.1100G>T (p.Arg367Leu)
|
rs113332073
|
0.00001
|
NM_000540.3(RYR1):c.11062G>A (p.Glu3688Lys)
|
rs1471770778
|
0.00001
|
NM_000540.3(RYR1):c.11119C>G (p.Arg3707Gly)
|
rs781379239
|
0.00001
|
NM_000540.3(RYR1):c.11183T>C (p.Ile3728Thr)
|
rs757580935
|
0.00001
|
NM_000540.3(RYR1):c.11193+3G>A
|
rs886054400
|
0.00001
|
NM_000540.3(RYR1):c.11213G>A (p.Gly3738Glu)
|
rs1349985442
|
0.00001
|
NM_000540.3(RYR1):c.11224G>A (p.Gly3742Ser)
|
rs774921643
|
0.00001
|
NM_000540.3(RYR1):c.11260-7T>G
|
rs1330899688
|
0.00001
|
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln)
|
rs193922839
|
0.00001
|
NM_000540.3(RYR1):c.11329A>G (p.Met3777Val)
|
rs767480684
|
0.00001
|
NM_000540.3(RYR1):c.1140G>A (p.Glu380=)
|
rs35189056
|
0.00001
|
NM_000540.3(RYR1):c.1156G>A (p.Ala386Thr)
|
rs532700459
|
0.00001
|
NM_000540.3(RYR1):c.11578G>A (p.Glu3860Lys)
|
rs199737015
|
0.00001
|
NM_000540.3(RYR1):c.11582A>G (p.Asp3861Gly)
|
rs1219842381
|
0.00001
|
NM_000540.3(RYR1):c.11590+1G>T
|
rs113928116
|
0.00001
|
NM_000540.3(RYR1):c.11608+2T>C
|
rs1443083095
|
0.00001
|
NM_000540.3(RYR1):c.1163C>T (p.Ser388Leu)
|
rs777892571
|
0.00001
|
NM_000540.3(RYR1):c.11667G>C (p.Leu3889Phe)
|
rs1245124748
|
0.00001
|
NM_000540.3(RYR1):c.11683A>G (p.Asn3895Asp)
|
rs544957104
|
0.00001
|
NM_000540.3(RYR1):c.11706A>G (p.Leu3902=)
|
rs776123178
|
0.00001
|
NM_000540.3(RYR1):c.11731A>G (p.Thr3911Ala)
|
rs200622493
|
0.00001
|
NM_000540.3(RYR1):c.11735T>A (p.Ile3912Asn)
|
rs150588606
|
0.00001
|
NM_000540.3(RYR1):c.11746A>G (p.Ile3916Val)
|
rs766503308
|
0.00001
|
NM_000540.3(RYR1):c.11811G>A (p.Ser3937=)
|
rs794727946
|
0.00001
|
NM_000540.3(RYR1):c.11838C>T (p.Gly3946=)
|
rs758112271
|
0.00001
|
NM_000540.3(RYR1):c.11878G>C (p.Val3960Leu)
|
rs1064796578
|
0.00001
|
NM_000540.3(RYR1):c.12002A>G (p.Lys4001Arg)
|
rs1339166347
|
0.00001
|
NM_000540.3(RYR1):c.1204A>G (p.Met402Val)
|
rs766763626
|
0.00001
|
NM_000540.3(RYR1):c.12095-4G>A
|
rs769377982
|
0.00001
|
NM_000540.3(RYR1):c.12100G>A (p.Val4034Met)
|
rs372447264
|
0.00001
|
NM_000540.3(RYR1):c.12121C>T (p.Arg4041Trp)
|
rs144685735
|
0.00001
|
NM_000540.3(RYR1):c.12136A>G (p.Met4046Val)
|
rs777752603
|
0.00001
|
NM_000540.3(RYR1):c.12158A>G (p.Asn4053Ser)
|
rs547269468
|
0.00001
|
NM_000540.3(RYR1):c.12160G>A (p.Val4054Met)
|
rs769642510
|
0.00001
|
NM_000540.3(RYR1):c.1218C>T (p.Thr406=)
|
rs3745846
|
0.00001
|
NM_000540.3(RYR1):c.12218C>T (p.Ser4073Phe)
|
rs763042731
|
0.00001
|
NM_000540.3(RYR1):c.12219T>A (p.Ser4073=)
|
rs764395582
|
0.00001
|
NM_000540.3(RYR1):c.12226T>C (p.Phe4076Leu)
|
rs1298885611
|
0.00001
|
NM_000540.3(RYR1):c.12228C>T (p.Phe4076=)
|
rs757332415
|
0.00001
|
NM_000540.3(RYR1):c.12250C>T (p.Arg4084Cys)
|
rs755879946
|
0.00001
|
NM_000540.3(RYR1):c.12251G>A (p.Arg4084His)
|
rs779380542
|
0.00001
|
NM_000540.3(RYR1):c.12291C>A (p.Asp4097Glu)
|
rs749610835
|
0.00001
|
NM_000540.3(RYR1):c.12314C>G (p.Pro4105Arg)
|
rs1309530680
|
0.00001
|
NM_000540.3(RYR1):c.12343G>A (p.Glu4115Lys)
|
rs760759823
|
0.00001
|
NM_000540.3(RYR1):c.12406C>A (p.Arg4136Ser)
|
rs193922849
|
0.00001
|
NM_000540.3(RYR1):c.12449C>G (p.Ser4150Trp)
|
rs143843083
|
0.00001
|
NM_000540.3(RYR1):c.1247G>A (p.Ser416Asn)
|
rs1967148373
|
0.00001
|
NM_000540.3(RYR1):c.12554C>T (p.Ala4185Val)
|
rs764029140
|
0.00001
|
NM_000540.3(RYR1):c.12559C>T (p.Arg4187Cys)
|
rs761486041
|
0.00001
|
NM_000540.3(RYR1):c.12572G>A (p.Arg4191His)
|
rs765730833
|
0.00001
|
NM_000540.3(RYR1):c.12599A>T (p.Asn4200Ile)
|
rs199660276
|
0.00001
|
NM_000540.3(RYR1):c.12608A>G (p.Gln4203Arg)
|
rs757438220
|
0.00001
|
NM_000540.3(RYR1):c.12616A>G (p.Met4206Val)
|
rs1253965850
|
0.00001
|
NM_000540.3(RYR1):c.12747G>C (p.Gln4249His)
|
rs1232214674
|
0.00001
|
NM_000540.3(RYR1):c.12769C>T (p.Pro4257Ser)
|
rs1205338973
|
0.00001
|
NM_000540.3(RYR1):c.12802G>A (p.Ala4268Thr)
|
rs886054404
|
0.00001
|
NM_000540.3(RYR1):c.12803C>G (p.Ala4268Gly)
|
rs774887304
|
0.00001
|
NM_000540.3(RYR1):c.12835G>A (p.Ala4279Thr)
|
rs766705028
|
0.00001
|
NM_000540.3(RYR1):c.12943C>T (p.Arg4315Trp)
|
rs1477549475
|
0.00001
|
NM_000540.3(RYR1):c.12951G>A (p.Val4317=)
|
rs957481378
|
0.00001
|
NM_000540.3(RYR1):c.12962G>A (p.Arg4321Gln)
|
rs1313365429
|
0.00001
|
NM_000540.3(RYR1):c.1298C>T (p.Thr433Met)
|
rs773794000
|
0.00001
|
NM_000540.3(RYR1):c.13018G>A (p.Val4340Met)
|
rs1186945915
|
0.00001
|
NM_000540.3(RYR1):c.13036G>A (p.Ala4346Thr)
|
rs1296263427
|
0.00001
|
NM_000540.3(RYR1):c.13039G>A (p.Gly4347Ser)
|
rs1568583100
|
0.00001
|
NM_000540.3(RYR1):c.13048G>T (p.Ala4350Ser)
|
rs777783994
|
0.00001
|
NM_000540.3(RYR1):c.13081T>A (p.Ser4361Thr)
|
rs746798861
|
0.00001
|
NM_000540.3(RYR1):c.13089C>A (p.Phe4363Leu)
|
rs757097846
|
0.00001
|
NM_000540.3(RYR1):c.13111G>A (p.Ala4371Thr)
|
rs1337566743
|
0.00001
|
NM_000540.3(RYR1):c.13120G>A (p.Val4374Met)
|
rs1973363499
|
0.00001
|
NM_000540.3(RYR1):c.13122G>A (p.Val4374=)
|
rs797045930
|
0.00001
|
NM_000540.3(RYR1):c.13142C>G (p.Ala4381Gly)
|
rs794727983
|
0.00001
|
NM_000540.3(RYR1):c.13165G>A (p.Asp4389Asn)
|
rs774812209
|
0.00001
|
NM_000540.3(RYR1):c.13177G>A (p.Gly4393Ser)
|
rs1444800471
|
0.00001
|
NM_000540.3(RYR1):c.1317C>T (p.Gly439=)
|
rs1230243590
|
0.00001
|
NM_000540.3(RYR1):c.131G>A (p.Arg44His)
|
rs139161723
|
0.00001
|
NM_000540.3(RYR1):c.13216G>A (p.Glu4406Lys)
|
rs1286397169
|
0.00001
|
NM_000540.3(RYR1):c.13228G>C (p.Glu4410Gln)
|
rs776964609
|
0.00001
|
NM_000540.3(RYR1):c.13234G>A (p.Ala4412Thr)
|
rs759639541
|
0.00001
|
NM_000540.3(RYR1):c.13264G>A (p.Glu4422Lys)
|
rs1973376170
|
0.00001
|
NM_000540.3(RYR1):c.13370T>G (p.Met4457Arg)
|
rs1394722307
|
0.00001
|
NM_000540.3(RYR1):c.13378A>G (p.Thr4460Ala)
|
rs1381604416
|
0.00001
|
NM_000540.3(RYR1):c.13447G>A (p.Val4483Met)
|
rs1374937370
|
0.00001
|
NM_000540.3(RYR1):c.13459C>T (p.Leu4487Phe)
|
rs778529262
|
0.00001
|
NM_000540.3(RYR1):c.13470G>T (p.Glu4490Asp)
|
rs193922858
|
0.00001
|
NM_000540.3(RYR1):c.13483C>T (p.Pro4495Ser)
|
rs767437276
|
0.00001
|
NM_000540.3(RYR1):c.13484C>T (p.Pro4495Leu)
|
rs138929547
|
0.00001
|
NM_000540.3(RYR1):c.13519G>A (p.Glu4507Lys)
|
rs978180266
|
0.00001
|
NM_000540.3(RYR1):c.13525_13531dup (p.Lys4511fs)
|
rs928989953
|
0.00001
|
NM_000540.3(RYR1):c.13532A>G (p.Lys4511Arg)
|
rs923603327
|
0.00001
|
NM_000540.3(RYR1):c.13548G>C (p.Glu4516Asp)
|
rs1057520187
|
0.00001
|
NM_000540.3(RYR1):c.13589C>T (p.Pro4530Leu)
|
rs754384042
|
0.00001
|
NM_000540.3(RYR1):c.13639G>A (p.Val4547Met)
|
rs907229842
|
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.13747-4T>G
|
rs1287127447
|
0.00001
|
NM_000540.3(RYR1):c.13747G>A (p.Val4583Ile)
|
rs767849171
|
0.00001
|
NM_000540.3(RYR1):c.13799A>T (p.Asp4600Val)
|
rs929800544
|
0.00001
|
NM_000540.3(RYR1):c.13807G>C (p.Gly4603Arg)
|
rs373231458
|
0.00001
|
NM_000540.3(RYR1):c.13842G>T (p.Leu4614Phe)
|
rs775940719
|
0.00001
|
NM_000540.3(RYR1):c.13874A>G (p.Asp4625Gly)
|
rs748287480
|
0.00001
|
NM_000540.3(RYR1):c.13885G>A (p.Val4629Met)
|
rs752668333
|
0.00001
|
NM_000540.3(RYR1):c.13907G>A (p.Ser4636Asn)
|
rs893897931
|
0.00001
|
NM_000540.3(RYR1):c.14002C>T (p.Pro4668Ser)
|
rs193922863
|
0.00001
|
NM_000540.3(RYR1):c.14021G>A (p.Arg4674Gln)
|
rs1328709837
|
0.00001
|
NM_000540.3(RYR1):c.14041A>C (p.Lys4681Gln)
|
rs1912187896
|
0.00001
|
NM_000540.3(RYR1):c.14129+10C>A
|
rs546280470
|
0.00001
|
NM_000540.3(RYR1):c.14129C>T (p.Pro4710Leu)
|
rs370212445
|
0.00001
|
NM_000540.3(RYR1):c.14130-2A>G
|
rs1457662393
|
0.00001
|
NM_000540.3(RYR1):c.14167C>T (p.Arg4723Cys)
|
rs200473035
|
0.00001
|
NM_000540.3(RYR1):c.14170A>C (p.Lys4724Gln)
|
rs118192141
|
0.00001
|
NM_000540.3(RYR1):c.14189G>T (p.Gly4730Val)
|
rs763466452
|
0.00001
|
NM_000540.3(RYR1):c.1418G>A (p.Arg473His)
|
rs538087438
|
0.00001
|
NM_000540.3(RYR1):c.14204G>A (p.Arg4735Gln)
|
rs754190031
|
0.00001
|
NM_000540.3(RYR1):c.14235C>A (p.Asp4745Glu)
|
rs1277398138
|
0.00001
|
NM_000540.3(RYR1):c.14239G>A (p.Ala4747Thr)
|
rs758668017
|
0.00001
|
NM_000540.3(RYR1):c.1423A>T (p.Ser475Cys)
|
rs771464102
|
0.00001
|
NM_000540.3(RYR1):c.14273A>G (p.Lys4758Arg)
|
rs1974034199
|
0.00001
|
NM_000540.3(RYR1):c.14324A>G (p.Lys4775Arg)
|
rs1193773891
|
0.00001
|
NM_000540.3(RYR1):c.14363A>G (p.Asn4788Ser)
|
rs200002533
|
0.00001
|
NM_000540.3(RYR1):c.14390T>C (p.Met4797Thr)
|
rs991961585
|
0.00001
|
NM_000540.3(RYR1):c.1440G>A (p.Glu480=)
|
rs989350448
|
0.00001
|
NM_000540.3(RYR1):c.14474G>A (p.Arg4825His)
|
rs193922875
|
0.00001
|
NM_000540.3(RYR1):c.14512-1G>A
|
rs1064793932
|
0.00001
|
NM_000540.3(RYR1):c.14706C>T (p.Ile4902=)
|
rs886054411
|
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.14851G>A (p.Val4951Met)
|
rs1974468078
|
0.00001
|
NM_000540.3(RYR1):c.14869-5C>G
|
rs1199304403
|
0.00001
|
NM_000540.3(RYR1):c.14917C>T (p.Pro4973Ser)
|
rs747622915
|
0.00001
|
NM_000540.3(RYR1):c.14939C>T (p.Thr4980Met)
|
rs398123471
|
0.00001
|
NM_000540.3(RYR1):c.14940G>A (p.Thr4980=)
|
rs765570755
|
0.00001
|
NM_000540.3(RYR1):c.14942T>C (p.Leu4981Pro)
|
rs761963097
|
0.00001
|
NM_000540.3(RYR1):c.14964T>A (p.Asn4988Lys)
|
rs760607196
|
0.00001
|
NM_000540.3(RYR1):c.15012C>A (p.His5004Gln)
|
rs1974498761
|
0.00001
|
NM_000540.3(RYR1):c.15014C>T (p.Thr5005Met)
|
rs763710371
|
0.00001
|
NM_000540.3(RYR1):c.15021G>C (p.Gln5007His)
|
rs376293495
|
0.00001
|
NM_000540.3(RYR1):c.15088C>T (p.Arg5030Cys)
|
rs374070555
|
0.00001
|
NM_000540.3(RYR1):c.1595A>G (p.Asn532Ser)
|
rs780036569
|
0.00001
|
NM_000540.3(RYR1):c.1655G>A (p.Arg552Gln)
|
rs772978260
|
0.00001
|
NM_000540.3(RYR1):c.1674C>T (p.Gly558=)
|
rs1212717189
|
0.00001
|
NM_000540.3(RYR1):c.1690T>C (p.Tyr564His)
|
rs767862786
|
0.00001
|
NM_000540.3(RYR1):c.1715A>C (p.Glu572Ala)
|
rs779551357
|
0.00001
|
NM_000540.3(RYR1):c.1739A>G (p.Asn580Ser)
|
rs373301841
|
0.00001
|
NM_000540.3(RYR1):c.178G>A (p.Asp60Asn)
|
rs118192160
|
0.00001
|
NM_000540.3(RYR1):c.1791+4G>A
|
rs770581392
|
0.00001
|
NM_000540.3(RYR1):c.1792-8A>T
|
rs746765869
|
0.00001
|
NM_000540.3(RYR1):c.1792G>A (p.Val598Ile)
|
rs930876441
|
0.00001
|
NM_000540.3(RYR1):c.1834G>A (p.Ala612Thr)
|
rs118204423
|
0.00001
|
NM_000540.3(RYR1):c.1882C>T (p.Arg628Cys)
|
rs757284447
|
0.00001
|
NM_000540.3(RYR1):c.1909A>G (p.Ile637Val)
|
rs567084532
|
0.00001
|
NM_000540.3(RYR1):c.1916A>G (p.Tyr639Cys)
|
rs747459771
|
0.00001
|
NM_000540.3(RYR1):c.1931G>A (p.Arg644His)
|
rs766150328
|
0.00001
|
NM_000540.3(RYR1):c.1943T>C (p.Phe648Ser)
|
rs1251940779
|
0.00001
|
NM_000540.3(RYR1):c.1967C>T (p.Thr656Met)
|
rs4802472
|
0.00001
|
NM_000540.3(RYR1):c.1983G>A (p.Trp661Ter)
|
rs1305971341
|
0.00001
|
NM_000540.3(RYR1):c.199G>A (p.Val67Ile)
|
rs761182247
|
0.00001
|
NM_000540.3(RYR1):c.2037C>A (p.Thr679=)
|
rs571569206
|
0.00001
|
NM_000540.3(RYR1):c.2065G>A (p.Glu689Lys)
|
rs144845360
|
0.00001
|
NM_000540.3(RYR1):c.2068G>A (p.Gly690Ser)
|
rs1225286685
|
0.00001
|
NM_000540.3(RYR1):c.2092G>A (p.Gly698Ser)
|
rs866990461
|
0.00001
|
NM_000540.3(RYR1):c.2095G>A (p.Glu699Lys)
|
rs553882104
|
0.00001
|
NM_000540.3(RYR1):c.2108G>A (p.Gly703Asp)
|
rs1448234735
|
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.2132A>G (p.Tyr711Cys)
|
rs1967529389
|
0.00001
|
NM_000540.3(RYR1):c.2173G>A (p.Val725Met)
|
rs200698933
|
0.00001
|
NM_000540.3(RYR1):c.2179C>T (p.Arg727Cys)
|
rs781271902
|
0.00001
|
NM_000540.3(RYR1):c.223C>T (p.Arg75Ter)
|
rs1346649518
|
0.00001
|
NM_000540.3(RYR1):c.2255C>T (p.Pro752Leu)
|
rs201229451
|
0.00001
|
NM_000540.3(RYR1):c.2278G>A (p.Gly760Ser)
|
rs778783052
|
0.00001
|
NM_000540.3(RYR1):c.2292G>C (p.Gln764His)
|
rs776172759
|
0.00001
|
NM_000540.3(RYR1):c.2293G>C (p.Gly765Arg)
|
rs1380227293
|
0.00001
|
NM_000540.3(RYR1):c.2361-4C>G
|
rs753918895
|
0.00001
|
NM_000540.3(RYR1):c.2371C>A (p.Leu791Ile)
|
rs1001953442
|
0.00001
|
NM_000540.3(RYR1):c.2400G>T (p.Lys800Asn)
|
rs1967664475
|
0.00001
|
NM_000540.3(RYR1):c.2437G>T (p.Ala813Ser)
|
rs558181103
|
0.00001
|
NM_000540.3(RYR1):c.2446C>T (p.Pro816Ser)
|
rs761141862
|
0.00001
|
NM_000540.3(RYR1):c.2461C>A (p.His821Asn)
|
rs764127808
|
0.00001
|
NM_000540.3(RYR1):c.2485C>G (p.Arg829Gly)
|
rs778320565
|
0.00001
|
NM_000540.3(RYR1):c.2486G>A (p.Arg829Gln)
|
rs372652716
|
0.00001
|
NM_000540.3(RYR1):c.2522C>T (p.Pro841Leu)
|
rs368051427
|
0.00001
|
NM_000540.3(RYR1):c.2533C>T (p.Leu845Phe)
|
rs201545585
|
0.00001
|
NM_000540.3(RYR1):c.255G>T (p.Val85=)
|
rs532101469
|
0.00001
|
NM_000540.3(RYR1):c.2561C>A (p.Pro854His)
|
rs1314566176
|
0.00001
|
NM_000540.3(RYR1):c.2577+1G>A
|
rs1416605332
|
0.00001
|
NM_000540.3(RYR1):c.2602C>T (p.Arg868Cys)
|
rs138020885
|
0.00001
|
NM_000540.3(RYR1):c.2608C>T (p.Arg870Trp)
|
rs573876812
|
0.00001
|
NM_000540.3(RYR1):c.2621C>T (p.Ala874Val)
|
rs779130363
|
0.00001
|
NM_000540.3(RYR1):c.2629A>G (p.Ile877Val)
|
rs1450654907
|
0.00001
|
NM_000540.3(RYR1):c.2646G>A (p.Ala882=)
|
rs375163703
|
0.00001
|
NM_000540.3(RYR1):c.265G>A (p.Val89Met)
|
rs757600766
|
0.00001
|
NM_000540.3(RYR1):c.2672C>T (p.Thr891Ile)
|
rs1283564361
|
0.00001
|
NM_000540.3(RYR1):c.2680C>A (p.Pro894Thr)
|
rs111976711
|
0.00001
|
NM_000540.3(RYR1):c.2682+13C>T
|
rs745844424
|
0.00001
|
NM_000540.3(RYR1):c.2682G>T (p.Pro894=)
|
rs919322708
|
0.00001
|
NM_000540.3(RYR1):c.2686C>T (p.Arg896Trp)
|
rs371050482
|
0.00001
|
NM_000540.3(RYR1):c.2709C>G (p.His903Gln)
|
rs1007637405
|
0.00001
|
NM_000540.3(RYR1):c.2823G>A (p.Ala941=)
|
rs750305530
|
0.00001
|
NM_000540.3(RYR1):c.2861T>C (p.Leu954Pro)
|
rs1183111020
|
0.00001
|
NM_000540.3(RYR1):c.2867A>G (p.Lys956Arg)
|
rs1410667812
|
0.00001
|
NM_000540.3(RYR1):c.2870C>T (p.Thr957Met)
|
rs201827275
|
0.00001
|
NM_000540.3(RYR1):c.2897C>T (p.Pro966Leu)
|
rs143179371
|
0.00001
|
NM_000540.3(RYR1):c.2924G>A (p.Arg975Gln)
|
rs778241277
|
0.00001
|
NM_000540.3(RYR1):c.2957G>A (p.Arg986His)
|
rs1407854476
|
0.00001
|
NM_000540.3(RYR1):c.2966A>G (p.Glu989Gly)
|
rs760305558
|
0.00001
|
NM_000540.3(RYR1):c.3014G>A (p.Ser1005Asn)
|
rs780145264
|
0.00001
|
NM_000540.3(RYR1):c.3037C>T (p.Pro1013Ser)
|
rs1968097908
|
0.00001
|
NM_000540.3(RYR1):c.3041C>T (p.Ala1014Val)
|
rs528184462
|
0.00001
|
NM_000540.3(RYR1):c.3044G>A (p.Arg1015His)
|
rs1202647394
|
0.00001
|
NM_000540.3(RYR1):c.3055C>T (p.Arg1019Trp)
|
rs757715804
|
0.00001
|
NM_000540.3(RYR1):c.3056G>A (p.Arg1019Gln)
|
rs781550981
|
0.00001
|
NM_000540.3(RYR1):c.3145G>A (p.Gly1049Ser)
|
rs990842315
|
0.00001
|
NM_000540.3(RYR1):c.3164C>G (p.Pro1055Arg)
|
rs1254584171
|
0.00001
|
NM_000540.3(RYR1):c.3200G>A (p.Arg1067His)
|
rs377381782
|
0.00001
|
NM_000540.3(RYR1):c.3202T>C (p.Cys1068Arg)
|
rs1057518768
|
0.00001
|
NM_000540.3(RYR1):c.3215G>A (p.Arg1072His)
|
rs757261781
|
0.00001
|
NM_000540.3(RYR1):c.3217A>G (p.Ile1073Val)
|
rs781092447
|
0.00001
|
NM_000540.3(RYR1):c.3218T>C (p.Ile1073Thr)
|
rs769763365
|
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.3257G>A (p.Arg1086His)
|
rs764009626
|
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.3299G>A (p.Arg1100His)
|
rs755973279
|
0.00001
|
NM_000540.3(RYR1):c.3301G>A (p.Val1101Met)
|
rs145088074
|
0.00001
|
NM_000540.3(RYR1):c.3315G>T (p.Arg1105Ser)
|
rs1469007491
|
0.00001
|
NM_000540.3(RYR1):c.3332A>T (p.Asp1111Val)
|
rs948252701
|
0.00001
|
NM_000540.3(RYR1):c.3358G>A (p.Ala1120Thr)
|
rs1968189676
|
0.00001
|
NM_000540.3(RYR1):c.3362A>G (p.Tyr1121Cys)
|
rs756138074
|
0.00001
|
NM_000540.3(RYR1):c.3371A>G (p.Asn1124Ser)
|
rs377285238
|
0.00001
|
NM_000540.3(RYR1):c.3381+5G>A
|
rs199691436
|
0.00001
|
NM_000540.3(RYR1):c.3382G>A (p.Gly1128Ser)
|
rs773310568
|
0.00001
|
NM_000540.3(RYR1):c.3396C>G (p.His1132Gln)
|
rs572636254
|
0.00001
|
NM_000540.3(RYR1):c.3418C>T (p.Arg1140Cys)
|
rs193922776
|
0.00001
|
NM_000540.3(RYR1):c.3424del (p.Trp1142fs)
|
rs1168352165
|
0.00001
|
NM_000540.3(RYR1):c.3431C>T (p.Pro1144Leu)
|
rs201940876
|
0.00001
|
NM_000540.3(RYR1):c.3436G>A (p.Asp1146Asn)
|
rs765011921
|
0.00001
|
NM_000540.3(RYR1):c.3463A>G (p.Thr1155Ala)
|
rs183262321
|
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.3536G>A (p.Arg1179Gln)
|
rs1370928636
|
0.00001
|
NM_000540.3(RYR1):c.353G>A (p.Ser118Asn)
|
rs766569166
|
0.00001
|
NM_000540.3(RYR1):c.362C>G (p.Thr121Ser)
|
rs371874847
|
0.00001
|
NM_000540.3(RYR1):c.3667G>A (p.Glu1223Lys)
|
rs936513262
|
0.00001
|
NM_000540.3(RYR1):c.3679A>G (p.Ile1227Val)
|
rs746166976
|
0.00001
|
NM_000540.3(RYR1):c.3686T>C (p.Met1229Thr)
|
rs750057461
|
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.3719G>T (p.Gly1240Val)
|
rs1374486975
|
0.00001
|
NM_000540.3(RYR1):c.3761A>G (p.Tyr1254Cys)
|
rs374083094
|
0.00001
|
NM_000540.3(RYR1):c.376A>G (p.Met126Val)
|
rs146065960
|
0.00001
|
NM_000540.3(RYR1):c.3826T>A (p.Trp1276Arg)
|
rs754104129
|
0.00001
|
NM_000540.3(RYR1):c.3835C>A (p.Gln1279Lys)
|
rs1249689187
|
0.00001
|
NM_000540.3(RYR1):c.3901C>T (p.Arg1301Cys)
|
rs745920741
|
0.00001
|
NM_000540.3(RYR1):c.3968G>C (p.Arg1323Pro)
|
rs771230451
|
0.00001
|
NM_000540.3(RYR1):c.3981C>G (p.Pro1327=)
|
rs763082630
|
0.00001
|
NM_000540.3(RYR1):c.4006C>A (p.Arg1336Ser)
|
rs755911690
|
0.00001
|
NM_000540.3(RYR1):c.4056G>A (p.Ala1352=)
|
rs915321867
|
0.00001
|
NM_000540.3(RYR1):c.4061A>C (p.Glu1354Ala)
|
rs1458779012
|
0.00001
|
NM_000540.3(RYR1):c.408G>A (p.Leu136=)
|
rs756918282
|
0.00001
|
NM_000540.3(RYR1):c.4122T>A (p.Asn1374Lys)
|
rs886054382
|
0.00001
|
NM_000540.3(RYR1):c.4160+1G>A
|
rs113460156
|
0.00001
|
NM_000540.3(RYR1):c.4186G>A (p.Ala1396Thr)
|
rs772111760
|
0.00001
|
NM_000540.3(RYR1):c.4225C>T (p.Arg1409Ter)
|
rs587784376
|
0.00001
|
NM_000540.3(RYR1):c.4230C>T (p.Leu1410=)
|
rs750872878
|
0.00001
|
NM_000540.3(RYR1):c.4250C>T (p.Ala1417Val)
|
rs779275405
|
0.00001
|
NM_000540.3(RYR1):c.4259G>A (p.Arg1420His)
|
rs150499158
|
0.00001
|
NM_000540.3(RYR1):c.4273A>G (p.Ile1425Val)
|
rs762596904
|
0.00001
|
NM_000540.3(RYR1):c.4293G>A (p.Thr1431=)
|
rs727504130
|
0.00001
|
NM_000540.3(RYR1):c.4318G>T (p.Ala1440Ser)
|
rs1037124193
|
0.00001
|
NM_000540.3(RYR1):c.4327G>A (p.Glu1443Lys)
|
rs747311834
|
0.00001
|
NM_000540.3(RYR1):c.4390G>A (p.Asp1464Asn)
|
rs368396727
|
0.00001
|
NM_000540.3(RYR1):c.4400A>G (p.Lys1467Arg)
|
rs145573319
|
0.00001
|
NM_000540.3(RYR1):c.4406G>A (p.Arg1469Gln)
|
rs1346919204
|
0.00001
|
NM_000540.3(RYR1):c.4417G>T (p.Val1473Leu)
|
rs1263847987
|
0.00001
|
NM_000540.3(RYR1):c.4444G>A (p.Val1482Ile)
|
rs747718728
|
0.00001
|
NM_000540.3(RYR1):c.4454+6G>A
|
rs771877667
|
0.00001
|
NM_000540.3(RYR1):c.4466G>A (p.Ser1489Asn)
|
rs34404839
|
0.00001
|
NM_000540.3(RYR1):c.4480G>C (p.Val1494Leu)
|
rs886054387
|
0.00001
|
NM_000540.3(RYR1):c.4488C>T (p.Gly1496=)
|
rs886038331
|
0.00001
|
NM_000540.3(RYR1):c.4495T>G (p.Phe1499Val)
|
rs1375580585
|
0.00001
|
NM_000540.3(RYR1):c.45+6T>C
|
rs1230846317
|
0.00001
|
NM_000540.3(RYR1):c.4532C>T (p.Thr1511Met)
|
rs746617941
|
0.00001
|
NM_000540.3(RYR1):c.4533G>A (p.Thr1511=)
|
rs147901772
|
0.00001
|
NM_000540.3(RYR1):c.4578G>A (p.Met1526Ile)
|
rs769254362
|
0.00001
|
NM_000540.3(RYR1):c.46-10G>A
|
rs1972632890
|
0.00001
|
NM_000540.3(RYR1):c.4633A>G (p.Thr1545Ala)
|
rs1386118815
|
0.00001
|
NM_000540.3(RYR1):c.4650C>T (p.Ala1550=)
|
rs200600174
|
0.00001
|
NM_000540.3(RYR1):c.4718C>T (p.Pro1573Leu)
|
rs774364705
|
0.00001
|
NM_000540.3(RYR1):c.4744G>A (p.Glu1582Lys)
|
rs1200734670
|
0.00001
|
NM_000540.3(RYR1):c.4766A>C (p.Gln1589Pro)
|
rs780420237
|
0.00001
|
NM_000540.3(RYR1):c.4775C>T (p.Pro1592Leu)
|
rs193922777
|
0.00001
|
NM_000540.3(RYR1):c.4777C>T (p.Arg1593Trp)
|
rs1229854214
|
0.00001
|
NM_000540.3(RYR1):c.4782G>A (p.Leu1594=)
|
rs1064797239
|
0.00001
|
NM_000540.3(RYR1):c.4816C>T (p.Arg1606Cys)
|
rs774316371
|
0.00001
|
NM_000540.3(RYR1):c.4817G>A (p.Arg1606His)
|
rs368399715
|
0.00001
|
NM_000540.3(RYR1):c.4853G>A (p.Arg1618His)
|
rs957392274
|
0.00001
|
NM_000540.3(RYR1):c.4873T>C (p.Trp1625Arg)
|
rs1568481617
|
0.00001
|
NM_000540.3(RYR1):c.4879G>A (p.Val1627Met)
|
rs568486136
|
0.00001
|
NM_000540.3(RYR1):c.488G>A (p.Arg163His)
|
rs193922753
|
0.00001
|
NM_000540.3(RYR1):c.4895C>T (p.Pro1632Leu)
|
rs773015838
|
0.00001
|
NM_000540.3(RYR1):c.4927G>A (p.Glu1643Lys)
|
rs1197255639
|
0.00001
|
NM_000540.3(RYR1):c.4934G>A (p.Arg1645Gln)
|
rs193922778
|
0.00001
|
NM_000540.3(RYR1):c.4958C>T (p.Ser1653Leu)
|
rs1043661945
|
0.00001
|
NM_000540.3(RYR1):c.4978C>G (p.Arg1660Gly)
|
rs1131691406
|
0.00001
|
NM_000540.3(RYR1):c.4979G>A (p.Arg1660His)
|
rs200625526
|
0.00001
|
NM_000540.3(RYR1):c.5009G>A (p.Arg1670His)
|
rs1248039154
|
0.00001
|
NM_000540.3(RYR1):c.5019C>T (p.Cys1673=)
|
rs543026464
|
0.00001
|
NM_000540.3(RYR1):c.5020G>A (p.Ala1674Thr)
|
rs1460141666
|
0.00001
|
NM_000540.3(RYR1):c.5033A>G (p.Asn1678Ser)
|
rs781104539
|
0.00001
|
NM_000540.3(RYR1):c.5047G>A (p.Ala1683Thr)
|
rs1455863679
|
0.00001
|
NM_000540.3(RYR1):c.5092G>A (p.Glu1698Lys)
|
rs763281057
|
0.00001
|
NM_000540.3(RYR1):c.5098G>A (p.Ala1700Thr)
|
rs751849934
|
0.00001
|
NM_000540.3(RYR1):c.5099C>T (p.Ala1700Val)
|
rs757262970
|
0.00001
|
NM_000540.3(RYR1):c.5115_5122del (p.Leu1706fs)
|
rs1248355799
|
0.00001
|
NM_000540.3(RYR1):c.5132A>G (p.Tyr1711Cys)
|
rs754785770
|
0.00001
|
NM_000540.3(RYR1):c.5155C>A (p.Leu1719Ile)
|
rs771648635
|
0.00001
|
NM_000540.3(RYR1):c.5198A>C (p.Tyr1733Ser)
|
rs548973328
|
0.00001
|
NM_000540.3(RYR1):c.5255G>A (p.Ser1752Asn)
|
rs773363892
|
0.00001
|
NM_000540.3(RYR1):c.526G>A (p.Glu176Lys)
|
rs761616815
|
0.00001
|
NM_000540.3(RYR1):c.5273C>T (p.Pro1758Leu)
|
rs371317448
|
0.00001
|
NM_000540.3(RYR1):c.5275C>T (p.Arg1759Trp)
|
rs759566652
|
0.00001
|
NM_000540.3(RYR1):c.5276G>A (p.Arg1759Gln)
|
rs765080138
|
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.5336C>T (p.Pro1779Leu)
|
rs765255811
|
0.00001
|
NM_000540.3(RYR1):c.5338C>G (p.Pro1780Ala)
|
rs1417223289
|
0.00001
|
NM_000540.3(RYR1):c.5341T>C (p.Cys1781Arg)
|
rs372958050
|
0.00001
|
NM_000540.3(RYR1):c.5353G>A (p.Ala1785Thr)
|
rs994430568
|
0.00001
|
NM_000540.3(RYR1):c.5417C>T (p.Ala1806Val)
|
rs771024285
|
0.00001
|
NM_000540.3(RYR1):c.5476G>A (p.Ala1826Thr)
|
rs757710320
|
0.00001
|
NM_000540.3(RYR1):c.5488G>A (p.Val1830Ile)
|
rs147603571
|
0.00001
|
NM_000540.3(RYR1):c.5500G>A (p.Val1834Met)
|
rs1485656805
|
0.00001
|
NM_000540.3(RYR1):c.550G>A (p.Ala184Thr)
|
rs766256366
|
0.00001
|
NM_000540.3(RYR1):c.5533G>A (p.Val1845Met)
|
rs926669024
|
0.00001
|
NM_000540.3(RYR1):c.5548-3T>C
|
rs370111319
|
0.00001
|
NM_000540.3(RYR1):c.5548-9G>T
|
rs776320867
|
0.00001
|
NM_000540.3(RYR1):c.5596A>G (p.Ile1866Val)
|
rs1184784202
|
0.00001
|
NM_000540.3(RYR1):c.5606A>T (p.Glu1869Val)
|
rs754094372
|
0.00001
|
NM_000540.3(RYR1):c.5607G>C (p.Glu1869Asp)
|
rs1043076830
|
0.00001
|
NM_000540.3(RYR1):c.567G>C (p.Gln189His)
|
rs1249117526
|
0.00001
|
NM_000540.3(RYR1):c.5746G>C (p.Gly1916Arg)
|
rs746965897
|
0.00001
|
NM_000540.3(RYR1):c.577T>A (p.Ser193Thr)
|
rs886054379
|
0.00001
|
NM_000540.3(RYR1):c.5815-16G>A
|
rs1064796679
|
0.00001
|
NM_000540.3(RYR1):c.5860C>T (p.Arg1954Cys)
|
rs1354061498
|
0.00001
|
NM_000540.3(RYR1):c.5885C>T (p.Ala1962Val)
|
rs751621150
|
0.00001
|
NM_000540.3(RYR1):c.5926C>T (p.Arg1976Cys)
|
rs747644094
|
0.00001
|
NM_000540.3(RYR1):c.5942T>G (p.Ile1981Arg)
|
rs1057524609
|
0.00001
|
NM_000540.3(RYR1):c.5980C>T (p.Arg1994Cys)
|
rs369167120
|
0.00001
|
NM_000540.3(RYR1):c.5986C>T (p.Arg1996Cys)
|
rs1029641002
|
0.00001
|
NM_000540.3(RYR1):c.5999C>T (p.Ser2000Phe)
|
rs750324313
|
0.00001
|
NM_000540.3(RYR1):c.6016-5C>G
|
rs369996114
|
0.00001
|
NM_000540.3(RYR1):c.6034T>C (p.Phe2012Leu)
|
rs1445407200
|
0.00001
|
NM_000540.3(RYR1):c.6057A>C (p.Glu2019Asp)
|
rs1053361437
|
0.00001
|
NM_000540.3(RYR1):c.6128-3C>T
|
rs775568216
|
0.00001
|
NM_000540.3(RYR1):c.6139G>C (p.Asp2047His)
|
rs763963516
|
0.00001
|
NM_000540.3(RYR1):c.624C>T (p.Cys208=)
|
rs746914281
|
0.00001
|
NM_000540.3(RYR1):c.6280C>G (p.Leu2094Val)
|
rs1034775973
|
0.00001
|
NM_000540.3(RYR1):c.6301A>G (p.Met2101Val)
|
rs531823936
|
0.00001
|
NM_000540.3(RYR1):c.631+1G>T
|
rs374937694
|
0.00001
|
NM_000540.3(RYR1):c.6310C>T (p.Arg2104Cys)
|
rs541757529
|
0.00001
|
NM_000540.3(RYR1):c.6311G>A (p.Arg2104His)
|
rs745319881
|
0.00001
|
NM_000540.3(RYR1):c.631G>A (p.Gly211Ser)
|
rs1281318820
|
0.00001
|
NM_000540.3(RYR1):c.6377G>A (p.Arg2126Gln)
|
rs1469128640
|
0.00001
|
NM_000540.3(RYR1):c.6388G>A (p.Gly2130Arg)
|
rs193922789
|
0.00001
|
NM_000540.3(RYR1):c.6407G>A (p.Arg2136His)
|
rs530885842
|
0.00001
|
NM_000540.3(RYR1):c.6416C>T (p.Pro2139Leu)
|
rs1040827017
|
0.00001
|
NM_000540.3(RYR1):c.6422C>T (p.Ala2141Val)
|
rs201293931
|
0.00001
|
NM_000540.3(RYR1):c.6445G>A (p.Val2149Met)
|
rs776830747
|
0.00001
|
NM_000540.3(RYR1):c.6458T>C (p.Met2153Thr)
|
rs759940587
|
0.00001
|
NM_000540.3(RYR1):c.6466C>T (p.Leu2156Phe)
|
rs1202572873
|
0.00001
|
NM_000540.3(RYR1):c.652G>A (p.Val218Ile)
|
rs193922759
|
0.00001
|
NM_000540.3(RYR1):c.6547G>A (p.Gly2183Arg)
|
rs774275648
|
0.00001
|
NM_000540.3(RYR1):c.6548+6A>G
|
rs200428808
|
0.00001
|
NM_000540.3(RYR1):c.6549-8G>A
|
rs756593088
|
0.00001
|
NM_000540.3(RYR1):c.6554T>C (p.Ile2185Thr)
|
rs1186616874
|
0.00001
|
NM_000540.3(RYR1):c.6564C>G (p.Asn2188Lys)
|
rs373570763
|
0.00001
|
NM_000540.3(RYR1):c.6575A>G (p.Tyr2192Cys)
|
rs748421460
|
0.00001
|
NM_000540.3(RYR1):c.6584C>T (p.Pro2195Leu)
|
rs772003357
|
0.00001
|
NM_000540.3(RYR1):c.658C>T (p.Arg220Cys)
|
rs1220780685
|
0.00001
|
NM_000540.3(RYR1):c.6607A>G (p.Met2203Val)
|
rs200203904
|
0.00001
|
NM_000540.3(RYR1):c.6662A>G (p.Lys2221Arg)
|
rs1293529148
|
0.00001
|
NM_000540.3(RYR1):c.6664-2A>G
|
rs1346257891
|
0.00001
|
NM_000540.3(RYR1):c.668A>G (p.His223Arg)
|
rs766836202
|
0.00001
|
NM_000540.3(RYR1):c.6700C>T (p.Arg2234Cys)
|
rs201465595
|
0.00001
|
NM_000540.3(RYR1):c.670G>A (p.Gly224Arg)
|
rs1273260301
|
0.00001
|
NM_000540.3(RYR1):c.6742C>T (p.Arg2248Cys)
|
rs763352221
|
0.00001
|
NM_000540.3(RYR1):c.6790G>A (p.Gly2264Ser)
|
rs1372408402
|
0.00001
|
NM_000540.3(RYR1):c.6797-3C>A
|
rs766633897
|
0.00001
|
NM_000540.3(RYR1):c.6797-6C>A
|
rs1405203955
|
0.00001
|
NM_000540.3(RYR1):c.6797-7C>T
|
rs994688451
|
0.00001
|
NM_000540.3(RYR1):c.683A>G (p.Glu228Gly)
|
rs1260538999
|
0.00001
|
NM_000540.3(RYR1):c.6842T>C (p.Ile2281Thr)
|
rs1230617762
|
0.00001
|
NM_000540.3(RYR1):c.6891+5G>A
|
rs980283007
|
0.00001
|
NM_000540.3(RYR1):c.6962T>C (p.Ile2321Thr)
|
rs370500540
|
0.00001
|
NM_000540.3(RYR1):c.7021G>A (p.Val2341Ile)
|
rs767615522
|
0.00001
|
NM_000540.3(RYR1):c.7027G>A (p.Gly2343Ser)
|
rs536596969
|
0.00001
|
NM_000540.3(RYR1):c.7028-10G>A
|
rs1005260620
|
0.00001
|
NM_000540.3(RYR1):c.7029C>T (p.Gly2343=)
|
rs138617219
|
0.00001
|
NM_000540.3(RYR1):c.7036G>A (p.Val2346Met)
|
rs193922799
|
0.00001
|
NM_000540.3(RYR1):c.7039G>A (p.Glu2347Lys)
|
rs750951875
|
0.00001
|
NM_000540.3(RYR1):c.7043A>G (p.Glu2348Gly)
|
rs193922801
|
0.00001
|
NM_000540.3(RYR1):c.7045A>T (p.Asn2349Tyr)
|
rs780437705
|
0.00001
|
NM_000540.3(RYR1):c.7072A>C (p.Ile2358Leu)
|
rs759306349
|
0.00001
|
NM_000540.3(RYR1):c.7075C>T (p.Arg2359Trp)
|
rs769482889
|
0.00001
|
NM_000540.3(RYR1):c.7076G>A (p.Arg2359Gln)
|
rs1387126664
|
0.00001
|
NM_000540.3(RYR1):c.7121C>T (p.Ser2374Leu)
|
rs1131692006
|
0.00001
|
NM_000540.3(RYR1):c.7172C>T (p.Ala2391Val)
|
rs373264653
|
0.00001
|
NM_000540.3(RYR1):c.7192C>T (p.Arg2398Cys)
|
rs751654689
|
0.00001
|
NM_000540.3(RYR1):c.7199A>G (p.Asp2400Gly)
|
rs976108591
|
0.00001
|
NM_000540.3(RYR1):c.7201C>G (p.Arg2401Gly)
|
rs1481790842
|
0.00001
|
NM_000540.3(RYR1):c.7202G>A (p.Arg2401Gln)
|
rs370007152
|
0.00001
|
NM_000540.3(RYR1):c.7215-3C>T
|
rs1190472871
|
0.00001
|
NM_000540.3(RYR1):c.7234G>A (p.Glu2412Lys)
|
rs1247609577
|
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.7363G>A (p.Ala2455Thr)
|
rs765019465
|
0.00001
|
NM_000540.3(RYR1):c.737A>G (p.Tyr246Cys)
|
rs923613797
|
0.00001
|
NM_000540.3(RYR1):c.7385C>T (p.Pro2462Leu)
|
rs551223467
|
0.00001
|
NM_000540.3(RYR1):c.7422G>A (p.Leu2474=)
|
rs758872814
|
0.00001
|
NM_000540.3(RYR1):c.7446T>C (p.Asp2482=)
|
rs374058542
|
0.00001
|
NM_000540.3(RYR1):c.7483G>A (p.Val2495Met)
|
rs200291321
|
0.00001
|
NM_000540.3(RYR1):c.751G>A (p.Val251Met)
|
rs1216903554
|
0.00001
|
NM_000540.3(RYR1):c.7535T>C (p.Ile2512Thr)
|
rs1970086291
|
0.00001
|
NM_000540.3(RYR1):c.7604C>T (p.Ser2535Leu)
|
rs776163386
|
0.00001
|
NM_000540.3(RYR1):c.7608G>A (p.Leu2536=)
|
rs201686887
|
0.00001
|
NM_000540.3(RYR1):c.7628C>T (p.Thr2543Ile)
|
rs1471770301
|
0.00001
|
NM_000540.3(RYR1):c.7640C>T (p.Ala2547Val)
|
rs751482960
|
0.00001
|
NM_000540.3(RYR1):c.7673T>C (p.Val2558Ala)
|
rs777134421
|
0.00001
|
NM_000540.3(RYR1):c.7676T>A (p.Leu2559Gln)
|
rs139564550
|
0.00001
|
NM_000540.3(RYR1):c.7700C>T (p.Pro2567Leu)
|
rs768399513
|
0.00001
|
NM_000540.3(RYR1):c.7709C>T (p.Ala2570Val)
|
rs544312224
|
0.00001
|
NM_000540.3(RYR1):c.7724G>A (p.Arg2575His)
|
rs369450781
|
0.00001
|
NM_000540.3(RYR1):c.7738G>A (p.Asp2580Asn)
|
rs758009575
|
0.00001
|
NM_000540.3(RYR1):c.7752T>G (p.His2584Gln)
|
rs1324550196
|
0.00001
|
NM_000540.3(RYR1):c.7757T>A (p.Val2586Glu)
|
rs577314143
|
0.00001
|
NM_000540.3(RYR1):c.7787C>T (p.Thr2596Ile)
|
rs193922824
|
0.00001
|
NM_000540.3(RYR1):c.7798C>T (p.Arg2600Cys)
|
rs1480598842
|
0.00001
|
NM_000540.3(RYR1):c.7813G>A (p.Asp2605Asn)
|
rs754339645
|
0.00001
|
NM_000540.3(RYR1):c.7824G>A (p.Met2608Ile)
|
rs1568505698
|
0.00001
|
NM_000540.3(RYR1):c.7826C>T (p.Ser2609Leu)
|
rs747045754
|
0.00001
|
NM_000540.3(RYR1):c.7834A>C (p.Arg2612=)
|
rs1242518055
|
0.00001
|
NM_000540.3(RYR1):c.7842C>T (p.Ile2614=)
|
rs777420696
|
0.00001
|
NM_000540.3(RYR1):c.7843C>T (p.Arg2615Cys)
|
rs1222041246
|
0.00001
|
NM_000540.3(RYR1):c.7850C>T (p.Ser2617Leu)
|
rs780836747
|
0.00001
|
NM_000540.3(RYR1):c.7857G>A (p.Leu2619=)
|
rs547048377
|
0.00001
|
NM_000540.3(RYR1):c.7858C>T (p.Gln2620Ter)
|
rs1365856881
|
0.00001
|
NM_000540.3(RYR1):c.7859A>C (p.Gln2620Pro)
|
rs1425983637
|
0.00001
|
NM_000540.3(RYR1):c.7861C>T (p.His2621Tyr)
|
rs761129675
|
0.00001
|
NM_000540.3(RYR1):c.7873C>T (p.Arg2625Cys)
|
rs377686237
|
0.00001
|
NM_000540.3(RYR1):c.7892C>A (p.Pro2631His)
|
rs763892923
|
0.00001
|
NM_000540.3(RYR1):c.7896C>A (p.Ile2632=)
|
rs201090618
|
0.00001
|
NM_000540.3(RYR1):c.7926+3G>C
|
rs1159843881
|
0.00001
|
NM_000540.3(RYR1):c.7926+5G>A
|
rs1555784807
|
0.00001
|
NM_000540.3(RYR1):c.798C>T (p.Ile266=)
|
rs764527957
|
0.00001
|
NM_000540.3(RYR1):c.8026C>T (p.Arg2676Trp)
|
rs193922826
|
0.00001
|
NM_000540.3(RYR1):c.8071T>A (p.Tyr2691Asn)
|
rs1221624769
|
0.00001
|
NM_000540.3(RYR1):c.8078C>T (p.Pro2693Leu)
|
rs568662364
|
0.00001
|
NM_000540.3(RYR1):c.8082G>A (p.Glu2694=)
|
rs745619519
|
0.00001
|
NM_000540.3(RYR1):c.8090G>A (p.Arg2697His)
|
rs1254090942
|
0.00001
|
NM_000540.3(RYR1):c.8092A>G (p.Met2698Val)
|
rs775479195
|
0.00001
|
NM_000540.3(RYR1):c.8213G>A (p.Arg2738Gln)
|
rs766961940
|
0.00001
|
NM_000540.3(RYR1):c.8254G>T (p.Asp2752Tyr)
|
rs768299986
|
0.00001
|
NM_000540.3(RYR1):c.8263A>G (p.Ile2755Val)
|
rs1382963611
|
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.82C>T (p.Leu28Phe)
|
rs1242495143
|
0.00001
|
NM_000540.3(RYR1):c.8300C>T (p.Ala2767Val)
|
rs368444112
|
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.847C>T (p.His283Tyr)
|
rs753985252
|
0.00001
|
NM_000540.3(RYR1):c.85A>G (p.Lys29Glu)
|
rs1240489600
|
0.00001
|
NM_000540.3(RYR1):c.8617-5C>T
|
rs201663014
|
0.00001
|
NM_000540.3(RYR1):c.8638G>A (p.Glu2880Lys)
|
rs112772310
|
0.00001
|
NM_000540.3(RYR1):c.8692+15G>A
|
rs1219182533
|
0.00001
|
NM_000540.3(RYR1):c.8699G>C (p.Gly2900Ala)
|
rs750366916
|
0.00001
|
NM_000540.3(RYR1):c.8753G>A (p.Arg2918Gln)
|
rs1275833910
|
0.00001
|
NM_000540.3(RYR1):c.880G>A (p.Glu294Lys)
|
rs779597449
|
0.00001
|
NM_000540.3(RYR1):c.8843del (p.Ser2948fs)
|
rs765921831
|
0.00001
|
NM_000540.3(RYR1):c.8861G>T (p.Arg2954Leu)
|
rs1970541664
|
0.00001
|
NM_000540.3(RYR1):c.8888T>C (p.Leu2963Pro)
|
rs756870293
|
0.00001
|
NM_000540.3(RYR1):c.8991C>A (p.Phe2997Leu)
|
rs1377413977
|
0.00001
|
NM_000540.3(RYR1):c.8996C>G (p.Ala2999Gly)
|
rs374272827
|
0.00001
|
NM_000540.3(RYR1):c.9001-12A>G
|
rs1303749035
|
0.00001
|
NM_000540.3(RYR1):c.9001-8G>A
|
rs768611849
|
0.00001
|
NM_000540.3(RYR1):c.9009C>T (p.Leu3003=)
|
rs748143185
|
0.00001
|
NM_000540.3(RYR1):c.9062C>T (p.Pro3021Leu)
|
rs770765832
|
0.00001
|
NM_000540.3(RYR1):c.9070G>A (p.Val3024Met)
|
rs759007399
|
0.00001
|
NM_000540.3(RYR1):c.9096T>A (p.Ser3032=)
|
rs144067910
|
0.00001
|
NM_000540.3(RYR1):c.9101A>C (p.Lys3034Thr)
|
rs754966992
|
0.00001
|
NM_000540.3(RYR1):c.9112A>G (p.Met3038Val)
|
rs1302799425
|
0.00001
|
NM_000540.3(RYR1):c.9122+7C>T
|
rs199667629
|
0.00001
|
NM_000540.3(RYR1):c.9123-4T>G
|
rs1346638416
|
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.9223C>G (p.Leu3075Val)
|
rs892645913
|
0.00001
|
NM_000540.3(RYR1):c.9278G>A (p.Arg3093His)
|
rs1414706865
|
0.00001
|
NM_000540.3(RYR1):c.929C>T (p.Ala310Val)
|
rs966781989
|
0.00001
|
NM_000540.3(RYR1):c.9305A>G (p.Asp3102Gly)
|
rs1970766556
|
0.00001
|
NM_000540.3(RYR1):c.9341A>G (p.Lys3114Arg)
|
rs752290068
|
0.00001
|
NM_000540.3(RYR1):c.9346T>A (p.Ser3116Thr)
|
rs1336789605
|
0.00001
|
NM_000540.3(RYR1):c.9413C>T (p.Pro3138Leu)
|
rs762652935
|
0.00001
|
NM_000540.3(RYR1):c.946C>T (p.Arg316Cys)
|
rs752652072
|
0.00001
|
NM_000540.3(RYR1):c.9472+1G>A
|
rs776697656
|
0.00001
|
NM_000540.3(RYR1):c.9472+9G>A
|
rs1392237616
|
0.00001
|
NM_000540.3(RYR1):c.9473T>G (p.Leu3158Arg)
|
rs774197359
|
0.00001
|
NM_000540.3(RYR1):c.9511A>C (p.Ser3171Arg)
|
rs370851939
|
0.00001
|
NM_000540.3(RYR1):c.9523C>G (p.Leu3175Val)
|
rs528199298
|
0.00001
|
NM_000540.3(RYR1):c.9554+13A>T
|
rs1265960627
|
0.00001
|
NM_000540.3(RYR1):c.9559C>T (p.Arg3187Trp)
|
rs1376794459
|
0.00001
|
NM_000540.3(RYR1):c.9560G>A (p.Arg3187Gln)
|
rs1171145743
|
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.9615C>G (p.Phe3205Leu)
|
rs1223136232
|
0.00001
|
NM_000540.3(RYR1):c.9623C>T (p.Pro3208Leu)
|
rs758210285
|
0.00001
|
NM_000540.3(RYR1):c.9638A>G (p.Tyr3213Cys)
|
rs886054398
|
0.00001
|
NM_000540.3(RYR1):c.9650C>T (p.Ser3217Phe)
|
rs1283174775
|
0.00001
|
NM_000540.3(RYR1):c.9652G>A (p.Val3218Met)
|
rs553055844
|
0.00001
|
NM_000540.3(RYR1):c.9680G>A (p.Arg3227Gln)
|
rs878984852
|
0.00001
|
NM_000540.3(RYR1):c.9685+8G>T
|
rs752615788
|
0.00001
|
NM_000540.3(RYR1):c.9685A>G (p.Ile3229Val)
|
rs1449733977
|
0.00001
|
NM_000540.3(RYR1):c.9703A>C (p.Ser3235Arg)
|
rs747488155
|
0.00001
|
NM_000540.3(RYR1):c.9706G>A (p.Val3236Met)
|
rs771264217
|
0.00001
|
NM_000540.3(RYR1):c.9716T>A (p.Met3239Lys)
|
rs371027185
|
0.00001
|
NM_000540.3(RYR1):c.9732G>A (p.Pro3244=)
|
rs764290955
|
0.00001
|
NM_000540.3(RYR1):c.9733G>A (p.Val3245Met)
|
rs751455783
|
0.00001
|
NM_000540.3(RYR1):c.9742C>T (p.Arg3248Trp)
|
rs761656403
|
0.00001
|
NM_000540.3(RYR1):c.9743G>A (p.Arg3248Gln)
|
rs553187437
|
0.00001
|
NM_000540.3(RYR1):c.975C>T (p.Ala325=)
|
rs751251863
|
0.00001
|
NM_000540.3(RYR1):c.9795G>C (p.Glu3265Asp)
|
rs1216462019
|
0.00001
|
NM_000540.3(RYR1):c.9826A>G (p.Met3276Val)
|
rs1568528315
|
0.00001
|
NM_000540.3(RYR1):c.983G>A (p.Arg328Gln)
|
rs755875230
|
0.00001
|
NM_000540.3(RYR1):c.9848G>A (p.Arg3283Gln)
|
rs757753317
|
0.00001
|
NM_000540.3(RYR1):c.9883G>A (p.Ala3295Thr)
|
rs550627995
|
0.00001
|
NM_000540.3(RYR1):c.9898G>A (p.Ala3300Thr)
|
rs1568528516
|
0.00001
|
NM_000540.3(RYR1):c.9963A>C (p.Arg3321Ser)
|
rs1038063554
|
0.00001
|
NM_000540.3(RYR1):c.9989A>G (p.Asp3330Gly)
|
rs529012478
|
0.00001
|
NC_000019.10:g.(?_38433820)_(38475460_?)dup
|
|
|
NC_000019.10:g.38455669G>A
|
|
|
NC_000019.9:g.(?_38924450)_(38935337_?)dup
|
|
|
NC_000019.9:g.(?_38924470)_(38935337_?)dup
|
|
|
NC_000019.9:g.(?_38995368)_(38996058_?)del
|
|
|
NC_000019.9:g.(?_39033967)_(39037186_?)del
|
|
|
NC_000019.9:g.(?_39051733)_(39078060_?)dup
|
|
|
NC_000019.9:g.(?_39057531)_(39058577_?)del
|
|
|
NC_000019.9:g.(?_39070602)_(39071164_?)dup
|
|
|
NM_000540.2(RYR1):c.958_960del
|
rs1064794313
|
|
NM_000540.3(RYR1):c.*3C>T
|
|
|
NM_000540.3(RYR1):c.*6C>T
|
|
|
NM_000540.3(RYR1):c.-568T>C
|
|
|
NM_000540.3(RYR1):c.-61A>C
|
rs1192726936
|
|
NM_000540.3(RYR1):c.-65G>C
|
rs1204515719
|
|
NM_000540.3(RYR1):c.-69T>C
|
rs886054377
|
|
NM_000540.3(RYR1):c.-70dup
|
rs886054376
|
|
NM_000540.3(RYR1):c.-74A>C
|
rs886054375
|
|
NM_000540.3(RYR1):c.-81dup
|
rs886054374
|
|
NM_000540.3(RYR1):c.10000T>C (p.Trp3334Arg)
|
|
|
NM_000540.3(RYR1):c.10004_10005delinsAA (p.Met3335Lys)
|
|
|
NM_000540.3(RYR1):c.10007A>G (p.Lys3336Arg)
|
|
|
NM_000540.3(RYR1):c.10009C>G (p.Arg3337Gly)
|
rs200296387
|
|
NM_000540.3(RYR1):c.10009C>T (p.Arg3337Trp)
|
|
|
NM_000540.3(RYR1):c.1000G>A (p.Gly334Ser)
|
|
|
NM_000540.3(RYR1):c.10010G>T (p.Arg3337Leu)
|
|
|
NM_000540.3(RYR1):c.10018+20_10018+21delinsTT
|
|
|
NM_000540.3(RYR1):c.10018+5G>T
|
rs2145683142
|
|
NM_000540.3(RYR1):c.10018G>A (p.Val3340Met)
|
rs1600892115
|
|
NM_000540.3(RYR1):c.10019-20_10019-12del
|
|
|
NM_000540.3(RYR1):c.10019-3C>T
|
|
|
NM_000540.3(RYR1):c.10019-7C>A
|
|
|
NM_000540.3(RYR1):c.1001G>A (p.Gly334Asp)
|
|
|
NM_000540.3(RYR1):c.1001G>T (p.Gly334Val)
|
rs587784371
|
|
NM_000540.3(RYR1):c.10023C>G (p.Phe3341Leu)
|
rs753154402
|
|
NM_000540.3(RYR1):c.10024G>A (p.Ala3342Thr)
|
|
|
NM_000540.3(RYR1):c.10030C>T (p.Pro3344Ser)
|
rs2145688445
|
|
NM_000540.3(RYR1):c.1003C>A (p.Pro335Thr)
|
|
|
NM_000540.3(RYR1):c.10041C>A (p.Ser3347Arg)
|
|
|
NM_000540.3(RYR1):c.10046C>G (p.Ala3349Gly)
|
rs199531105
|
|
NM_000540.3(RYR1):c.10046C>T (p.Ala3349Val)
|
|
|
NM_000540.3(RYR1):c.10048C>G (p.Arg3350Gly)
|
|
|
NM_000540.3(RYR1):c.10054G>A (p.Glu3352Lys)
|
rs2145688597
|
|
NM_000540.3(RYR1):c.10057C>T (p.Leu3353Phe)
|
|
|
NM_000540.3(RYR1):c.10064A>C (p.Gln3355Pro)
|
|
|
NM_000540.3(RYR1):c.10067C>G (p.Ser3356Cys)
|
|
|
NM_000540.3(RYR1):c.1006C>T (p.Pro336Ser)
|
|
|
NM_000540.3(RYR1):c.10079C>T (p.Pro3360Leu)
|
|
|
NM_000540.3(RYR1):c.10082C>T (p.Thr3361Ile)
|
|
|
NM_000540.3(RYR1):c.10086C>G (p.Ile3362Met)
|
|
|
NM_000540.3(RYR1):c.10087G>A (p.Gly3363Arg)
|
|
|
NM_000540.3(RYR1):c.10090C>T (p.Arg3364Trp)
|
|
|
NM_000540.3(RYR1):c.10096C>A (p.Arg3366Ser)
|
rs561638083
|
|
NM_000540.3(RYR1):c.10096C>G (p.Arg3366Gly)
|
|
|
NM_000540.3(RYR1):c.10096C>T (p.Arg3366Cys)
|
|
|
NM_000540.3(RYR1):c.10097G>T (p.Arg3366Leu)
|
rs137932199
|
|
NM_000540.3(RYR1):c.100C>G (p.Leu34Val)
|
rs1481959610
|
|
NM_000540.3(RYR1):c.10100A>G (p.Lys3367Arg)
|
rs118192126
|
|
NM_000540.3(RYR1):c.10101G>C (p.Lys3367Asn)
|
rs1600898118
|
|
NM_000540.3(RYR1):c.10108G>A (p.Gly3370Arg)
|
|
|
NM_000540.3(RYR1):c.10109G>A (p.Gly3370Glu)
|
|
|
NM_000540.3(RYR1):c.10118T>G (p.Val3373Gly)
|
|
|
NM_000540.3(RYR1):c.1011G>T (p.Glu337Asp)
|
|
|
NM_000540.3(RYR1):c.10123G>A (p.Glu3375Lys)
|
|
|
NM_000540.3(RYR1):c.10123G>C (p.Glu3375Gln)
|
|
|
NM_000540.3(RYR1):c.10126G>A (p.Glu3376Lys)
|
|
|
NM_000540.3(RYR1):c.10153G>T (p.Ala3385Ser)
|
rs966978611
|
|
NM_000540.3(RYR1):c.10154C>A (p.Ala3385Glu)
|
|
|
NM_000540.3(RYR1):c.10159G>T (p.Ala3387Ser)
|
|
|
NM_000540.3(RYR1):c.10171G>T (p.Glu3391Ter)
|
|
|
NM_000540.3(RYR1):c.10180G>C (p.Val3394Leu)
|
|
|
NM_000540.3(RYR1):c.10180G>T (p.Val3394Leu)
|
rs1600898457
|
|
NM_000540.3(RYR1):c.10180_10189del (p.Val3394fs)
|
|
|
NM_000540.3(RYR1):c.10184G>A (p.Arg3395Gln)
|
rs543161252
|
|
NM_000540.3(RYR1):c.10184G>C (p.Arg3395Pro)
|
|
|
NM_000540.3(RYR1):c.10184G>T (p.Arg3395Leu)
|
|
|
NM_000540.3(RYR1):c.10186G>T (p.Asp3396Tyr)
|
|
|
NM_000540.3(RYR1):c.10188C>T (p.Asp3396=)
|
rs2229145
|
|
NM_000540.3(RYR1):c.10189G>C (p.Glu3397Gln)
|
|
|
NM_000540.3(RYR1):c.10194C>A (p.Phe3398Leu)
|
|
|
NM_000540.3(RYR1):c.10196C>T (p.Ser3399Phe)
|
rs1085307803
|
|
NM_000540.3(RYR1):c.10207C>T (p.Arg3403Trp)
|
|
|
NM_000540.3(RYR1):c.10213C>T (p.Leu3405Phe)
|
rs2145689439
|
|
NM_000540.3(RYR1):c.10214T>A (p.Leu3405His)
|
|
|
NM_000540.3(RYR1):c.10229C>A (p.Pro3410Gln)
|
rs769196275
|
|
NM_000540.3(RYR1):c.10229C>G (p.Pro3410Arg)
|
|
|
NM_000540.3(RYR1):c.10237A>T (p.Ile3413Phe)
|
rs2145689573
|
|
NM_000540.3(RYR1):c.10240C>T (p.Arg3414Cys)
|
|
|
NM_000540.3(RYR1):c.10241G>A (p.Arg3414His)
|
|
|
NM_000540.3(RYR1):c.10241G>T (p.Arg3414Leu)
|
|
|
NM_000540.3(RYR1):c.10246G>A (p.Val3416Met)
|
rs760809784
|
|
NM_000540.3(RYR1):c.1024G>A (p.Glu342Lys)
|
rs2145361853
|
|
NM_000540.3(RYR1):c.10250A>G (p.Asp3417Gly)
|
|
|
NM_000540.3(RYR1):c.10250ACA[2] (p.Asn3419del)
|
|
|
NM_000540.3(RYR1):c.10251C>A (p.Asp3417Glu)
|
|
|
NM_000540.3(RYR1):c.10252A>G (p.Asn3418Asp)
|
rs2145689666
|
|
NM_000540.3(RYR1):c.10253A>G (p.Asn3418Ser)
|
|
|
NM_000540.3(RYR1):c.10256A>G (p.Asn3419Ser)
|
rs1163728546
|
|
NM_000540.3(RYR1):c.10260-9T>G
|
rs1971290367
|
|
NM_000540.3(RYR1):c.10263G>A (p.Ala3421=)
|
rs778171066
|
|
NM_000540.3(RYR1):c.10265A>G (p.Gln3422Arg)
|
|
|
NM_000540.3(RYR1):c.10271T>G (p.Leu3424Arg)
|
rs1568534667
|
|
NM_000540.3(RYR1):c.10271_10279del (p.Leu3424_Glu3426del)
|
rs775358319
|
|
NM_000540.3(RYR1):c.10278G>T (p.Glu3426Asp)
|
|
|
NM_000540.3(RYR1):c.10279C>G (p.Pro3427Ala)
|
rs1971292205
|
|
NM_000540.3(RYR1):c.1027T>C (p.Ser343Pro)
|
|
|
NM_000540.3(RYR1):c.10286C>G (p.Pro3429Arg)
|
|
|
NM_000540.3(RYR1):c.10291G>C (p.Ala3431Pro)
|
rs553113819
|
|
NM_000540.3(RYR1):c.10292C>A (p.Ala3431Glu)
|
|
|
NM_000540.3(RYR1):c.10306A>G (p.Arg3436Gly)
|
|
|
NM_000540.3(RYR1):c.10312G>A (p.Val3438Met)
|
|
|
NM_000540.3(RYR1):c.10313T>C (p.Val3438Ala)
|
rs2145702520
|
|
NM_000540.3(RYR1):c.10314G>A (p.Val3438=)
|
|
|
NM_000540.3(RYR1):c.10322T>A (p.Ile3441Asn)
|
rs1971294994
|
|
NM_000540.3(RYR1):c.10330T>G (p.Tyr3444Asp)
|
|
|
NM_000540.3(RYR1):c.10335G>T (p.Trp3445Cys)
|
|
|
NM_000540.3(RYR1):c.10338C>T (p.Ser3446=)
|
|
|
NM_000540.3(RYR1):c.10343C>T (p.Ser3448Phe)
|
rs193922836
|
|
NM_000540.3(RYR1):c.10347+11_10347+23del
|
|
|
NM_000540.3(RYR1):c.10347+1G>A
|
rs111436401
|
|
NM_000540.3(RYR1):c.10348-3C>T
|
rs1971302236
|
|
NM_000540.3(RYR1):c.10353C>A (p.Phe3451Leu)
|
|
|
NM_000540.3(RYR1):c.10354A>C (p.Lys3452Gln)
|
|
|
NM_000540.3(RYR1):c.10357C>T (p.Arg3453Cys)
|
|
|
NM_000540.3(RYR1):c.1035C>G (p.Cys345Trp)
|
rs1170304013
|
|
NM_000540.3(RYR1):c.10360G>C (p.Glu3454Gln)
|
|
|
NM_000540.3(RYR1):c.10366C>G (p.Gln3456Glu)
|
|
|
NM_000540.3(RYR1):c.10378G>A (p.Val3460Ile)
|
|
|
NM_000540.3(RYR1):c.10382A>G (p.Gln3461Arg)
|
|
|
NM_000540.3(RYR1):c.10400T>C (p.Met3467Thr)
|
|
|
NM_000540.3(RYR1):c.10401G>C (p.Met3467Ile)
|
|
|
NM_000540.3(RYR1):c.10435G>C (p.Ala3479Pro)
|
|
|
NM_000540.3(RYR1):c.10436C>T (p.Ala3479Val)
|
|
|
NM_000540.3(RYR1):c.10438A>G (p.Lys3480Glu)
|
rs1971306070
|
|
NM_000540.3(RYR1):c.10440+1G>A
|
|
|
NM_000540.3(RYR1):c.10440G>A (p.Lys3480=)
|
|
|
NM_000540.3(RYR1):c.10441-15G>A
|
|
|
NM_000540.3(RYR1):c.10441-5A>G
|
|
|
NM_000540.3(RYR1):c.10444G>C (p.Gly3482Arg)
|
|
|
NM_000540.3(RYR1):c.10445G>A (p.Gly3482Glu)
|
|
|
NM_000540.3(RYR1):c.10445G>T (p.Gly3482Val)
|
|
|
NM_000540.3(RYR1):c.10450A>G (p.Ile3484Val)
|
|
|
NM_000540.3(RYR1):c.10452A>G (p.Ile3484Met)
|
|
|
NM_000540.3(RYR1):c.10453C>G (p.Gln3485Glu)
|
|
|
NM_000540.3(RYR1):c.10455+6C>T
|
|
|
NM_000540.3(RYR1):c.10456-1G>A
|
|
|
NM_000540.3(RYR1):c.10456-6C>T
|
|
|
NM_000540.3(RYR1):c.10456T>C (p.Ser3486Pro)
|
|
|
NM_000540.3(RYR1):c.10465T>G (p.Ser3489Ala)
|
|
|
NM_000540.3(RYR1):c.10466C>G (p.Ser3489Trp)
|
rs764263987
|
|
NM_000540.3(RYR1):c.10466C>T (p.Ser3489Leu)
|
rs764263987
|
|
NM_000540.3(RYR1):c.10472A>G (p.Gln3491Arg)
|
|
|
NM_000540.3(RYR1):c.10477C>T (p.Arg3493Cys)
|
rs750367227
|
|
NM_000540.3(RYR1):c.10483A>G (p.Lys3495Glu)
|
|
|
NM_000540.3(RYR1):c.10484A>G (p.Lys3495Arg)
|
rs2145711633
|
|
NM_000540.3(RYR1):c.10488G>T (p.Lys3496Asn)
|
|
|
NM_000540.3(RYR1):c.10490_10491insCCCC (p.Lys3497fs)
|
|
|
NM_000540.3(RYR1):c.10495C>T (p.Arg3499Trp)
|
rs147058802
|
|
NM_000540.3(RYR1):c.10496G>A (p.Arg3499Gln)
|
|
|
NM_000540.3(RYR1):c.10501G>T (p.Asp3501Tyr)
|
rs763259167
|
|
NM_000540.3(RYR1):c.10505G>C (p.Arg3502Pro)
|
|
|
NM_000540.3(RYR1):c.10526T>C (p.Leu3509Pro)
|
|
|
NM_000540.3(RYR1):c.10529T>G (p.Ile3510Ser)
|
|
|
NM_000540.3(RYR1):c.10531G>A (p.Val3511Met)
|
rs376389988
|
|
NM_000540.3(RYR1):c.10531G>T (p.Val3511Leu)
|
rs376389988
|
|
NM_000540.3(RYR1):c.10544AGA[1] (p.Lys3516del)
|
|
|
NM_000540.3(RYR1):c.10545G>C (p.Lys3515Asn)
|
rs1971424152
|
|
NM_000540.3(RYR1):c.10548G>T (p.Lys3516Asn)
|
|
|
NM_000540.3(RYR1):c.10555C>T (p.Pro3519Ser)
|
rs2145712109
|
|
NM_000540.3(RYR1):c.10556C>T (p.Pro3519Leu)
|
rs1600921854
|
|
NM_000540.3(RYR1):c.10558A>G (p.Ile3520Val)
|
|
|
NM_000540.3(RYR1):c.10561G>A (p.Gly3521Ser)
|
|
|
NM_000540.3(RYR1):c.10564C>A (p.Leu3522Met)
|
rs200144997
|
|
NM_000540.3(RYR1):c.10585G>A (p.Asp3529Asn)
|
|
|
NM_000540.3(RYR1):c.10587C>G (p.Asp3529Glu)
|
|
|
NM_000540.3(RYR1):c.10590A>C (p.Gln3530His)
|
|
|
NM_000540.3(RYR1):c.10595T>A (p.Leu3532His)
|
|
|
NM_000540.3(RYR1):c.10612A>T (p.Thr3538Ser)
|
|
|
NM_000540.3(RYR1):c.10615del (p.Arg3539fs)
|
|
|
NM_000540.3(RYR1):c.10618T>A (p.Tyr3540Asn)
|
rs1600922219
|
|
NM_000540.3(RYR1):c.10619A>G (p.Tyr3540Cys)
|
rs752477271
|
|
NM_000540.3(RYR1):c.10622C>A (p.Ala3541Asp)
|
rs751242873
|
|
NM_000540.3(RYR1):c.10622C>T (p.Ala3541Val)
|
|
|
NM_000540.3(RYR1):c.10625T>C (p.Leu3542Pro)
|
rs1971428958
|
|
NM_000540.3(RYR1):c.10626+5C>G
|
|
|
NM_000540.3(RYR1):c.10626+5C>T
|
|
|
NM_000540.3(RYR1):c.10626G>A (p.Leu3542=)
|
rs1568538021
|
|
NM_000540.3(RYR1):c.10626G>T (p.Leu3542=)
|
|
|
NM_000540.3(RYR1):c.10627-26_10627-19del
|
|
|
NM_000540.3(RYR1):c.10627-9T>C
|
|
|
NM_000540.3(RYR1):c.10641G>C (p.Glu3547Asp)
|
|
|
NM_000540.3(RYR1):c.10649G>A (p.Arg3550Gln)
|
|
|
NM_000540.3(RYR1):c.10656T>C (p.Phe3552=)
|
rs1971495978
|
|
NM_000540.3(RYR1):c.10662C>G (p.His3554Gln)
|
rs758686728
|
|
NM_000540.3(RYR1):c.10668C>A (p.Asn3556Lys)
|
|
|
NM_000540.3(RYR1):c.10669C>G (p.Leu3557Val)
|
|
|
NM_000540.3(RYR1):c.10669C>T (p.Leu3557Phe)
|
|
|
NM_000540.3(RYR1):c.10679A>G (p.Gln3560Arg)
|
|
|
NM_000540.3(RYR1):c.10682G>A (p.Gly3561Glu)
|
|
|
NM_000540.3(RYR1):c.10686+5G>A
|
|
|
NM_000540.3(RYR1):c.10687-2A>C
|
|
|
NM_000540.3(RYR1):c.10687-3C>T
|
|
|
NM_000540.3(RYR1):c.10687-7C>A
|
rs2960354
|
|
NM_000540.3(RYR1):c.10689C>G (p.Val3563=)
|
|
|
NM_000540.3(RYR1):c.10690G>A (p.Glu3564Lys)
|
|
|
NM_000540.3(RYR1):c.10694G>A (p.Gly3565Asp)
|
|
|
NM_000540.3(RYR1):c.10700C>A (p.Pro3567Gln)
|
|
|
NM_000540.3(RYR1):c.10700C>G (p.Pro3567Arg)
|
|
|
NM_000540.3(RYR1):c.10700del (p.Pro3567fs)
|
rs1971528310
|
|
NM_000540.3(RYR1):c.10702T>G (p.Ser3568Ala)
|
rs772784769
|
|
NM_000540.3(RYR1):c.10708C>T (p.Arg3570Cys)
|
|
|
NM_000540.3(RYR1):c.10709G>A (p.Arg3570His)
|
|
|
NM_000540.3(RYR1):c.10709G>T (p.Arg3570Leu)
|
|
|
NM_000540.3(RYR1):c.10739C>A (p.Pro3580Gln)
|
|
|
NM_000540.3(RYR1):c.10739C>T (p.Pro3580Leu)
|
|
|
NM_000540.3(RYR1):c.10740G>A (p.Pro3580=)
|
|
|
NM_000540.3(RYR1):c.10742G>A (p.Gly3581Asp)
|
|
|
NM_000540.3(RYR1):c.10744C>T (p.Arg3582Cys)
|
|
|
NM_000540.3(RYR1):c.10745G>A (p.Arg3582His)
|
|
|
NM_000540.3(RYR1):c.10745G>C (p.Arg3582Pro)
|
|
|
NM_000540.3(RYR1):c.10745G>T (p.Arg3582Leu)
|
|
|
NM_000540.3(RYR1):c.10749G>T (p.Glu3583Asp)
|
|
|
NM_000540.3(RYR1):c.10749GGA[1] (p.Glu3584del)
|
|
|
NM_000540.3(RYR1):c.10750G>A (p.Glu3584Lys)
|
rs1600930723
|
|
NM_000540.3(RYR1):c.10750G>C (p.Glu3584Gln)
|
rs1600930723
|
|
NM_000540.3(RYR1):c.10756G>A (p.Ala3586Thr)
|
|
|
NM_000540.3(RYR1):c.10756G>C (p.Ala3586Pro)
|
|
|
NM_000540.3(RYR1):c.10762G>T (p.Asp3588Tyr)
|
|
|
NM_000540.3(RYR1):c.10765C>T (p.Pro3589Ser)
|
rs2145720131
|
|
NM_000540.3(RYR1):c.10766C>G (p.Pro3589Arg)
|
|
|
NM_000540.3(RYR1):c.10772A>C (p.Lys3591Thr)
|
|
|
NM_000540.3(RYR1):c.10777G>A (p.Val3593Met)
|
rs1971532834
|
|
NM_000540.3(RYR1):c.10781G>A (p.Arg3594His)
|
|
|
NM_000540.3(RYR1):c.10784G>C (p.Arg3595Thr)
|
|
|
NM_000540.3(RYR1):c.10793A>T (p.Glu3598Val)
|
|
|
NM_000540.3(RYR1):c.10803C>A (p.Ala3601=)
|
rs141542477
|
|
NM_000540.3(RYR1):c.10804G>A (p.Val3602Met)
|
|
|
NM_000540.3(RYR1):c.10811A>G (p.Tyr3604Cys)
|
|
|
NM_000540.3(RYR1):c.10816C>G (p.Leu3606Val)
|
|
|
NM_000540.3(RYR1):c.1081C>T (p.Pro361Ser)
|
rs761707535
|
|
NM_000540.3(RYR1):c.10820A>G (p.Asp3607Gly)
|
rs1432880563
|
|
NM_000540.3(RYR1):c.10824+13G>A
|
rs756468318
|
|
NM_000540.3(RYR1):c.10825A>G (p.Thr3609Ala)
|
|
|
NM_000540.3(RYR1):c.10828G>A (p.Glu3610Lys)
|
rs1600933909
|
|
NM_000540.3(RYR1):c.10830G>C (p.Glu3610Asp)
|
|
|
NM_000540.3(RYR1):c.10837T>A (p.Tyr3613Asn)
|
|
|
NM_000540.3(RYR1):c.10837T>C (p.Tyr3613His)
|
|
|
NM_000540.3(RYR1):c.10850A>C (p.Lys3617Thr)
|
rs968796694
|
|
NM_000540.3(RYR1):c.10850A>G (p.Lys3617Arg)
|
|
|
NM_000540.3(RYR1):c.10851G>C (p.Lys3617Asn)
|
rs867082264
|
|
NM_000540.3(RYR1):c.10852G>A (p.Ala3618Thr)
|
rs978802618
|
|
NM_000540.3(RYR1):c.10860G>A (p.Trp3620Ter)
|
|
|
NM_000540.3(RYR1):c.10861C>A (p.His3621Asn)
|
|
|
NM_000540.3(RYR1):c.10861C>T (p.His3621Tyr)
|
|
|
NM_000540.3(RYR1):c.10868T>G (p.Leu3623Arg)
|
|
|
NM_000540.3(RYR1):c.10873T>C (p.Ser3625Pro)
|
|
|
NM_000540.3(RYR1):c.10877A>G (p.Lys3626Arg)
|
|
|
NM_000540.3(RYR1):c.10881G>C (p.Gln3627His)
|
rs1971573391
|
|
NM_000540.3(RYR1):c.10882C>A (p.Arg3628Ser)
|
rs1971573489
|
|
NM_000540.3(RYR1):c.10882C>G (p.Arg3628Gly)
|
|
|
NM_000540.3(RYR1):c.10883G>A (p.Arg3628His)
|
rs1568541826
|
|
NM_000540.3(RYR1):c.10885C>T (p.Arg3629Trp)
|
rs1434232361
|
|
NM_000540.3(RYR1):c.10886G>A (p.Arg3629Gln)
|
|
|
NM_000540.3(RYR1):c.10891G>T (p.Ala3631Ser)
|
rs1367333710
|
|
NM_000540.3(RYR1):c.10901C>T (p.Ala3634Val)
|
|
|
NM_000540.3(RYR1):c.10904G>A (p.Cys3635Tyr)
|
|
|
NM_000540.3(RYR1):c.1090A>G (p.Lys364Glu)
|
|
|
NM_000540.3(RYR1):c.10910G>A (p.Arg3637His)
|
rs747528384
|
|
NM_000540.3(RYR1):c.10913T>C (p.Met3638Thr)
|
rs1971575070
|
|
NM_000540.3(RYR1):c.1091A>C (p.Lys364Thr)
|
|
|
NM_000540.3(RYR1):c.10927_10930del (p.Asn3643fs)
|
|
|
NM_000540.3(RYR1):c.10928A>G (p.Asn3643Ser)
|
|
|
NM_000540.3(RYR1):c.10930C>G (p.Leu3644Val)
|
|
|
NM_000540.3(RYR1):c.10935C>A (p.Pro3645=)
|
|
|
NM_000540.3(RYR1):c.10937+6G>A
|
|
|
NM_000540.3(RYR1):c.10938-6del
|
|
|
NM_000540.3(RYR1):c.1093G>A (p.Ala365Thr)
|
|
|
NM_000540.3(RYR1):c.10942C>G (p.Arg3648Gly)
|
|
|
NM_000540.3(RYR1):c.10942C>T (p.Arg3648Trp)
|
|
|
NM_000540.3(RYR1):c.10945G>C (p.Ala3649Pro)
|
|
|
NM_000540.3(RYR1):c.10946C>T (p.Ala3649Val)
|
|
|
NM_000540.3(RYR1):c.10946dup (p.Cys3650fs)
|
|
|
NM_000540.3(RYR1):c.10948T>C (p.Cys3650Arg)
|
rs1167987822
|
|
NM_000540.3(RYR1):c.1094C>T (p.Ala365Val)
|
|
|
NM_000540.3(RYR1):c.10954A>G (p.Met3652Val)
|
|
|
NM_000540.3(RYR1):c.10957T>A (p.Phe3653Ile)
|
|
|
NM_000540.3(RYR1):c.10958T>A (p.Phe3653Tyr)
|
rs2145723708
|
|
NM_000540.3(RYR1):c.10961T>C (p.Leu3654Pro)
|
|
|
NM_000540.3(RYR1):c.10966A>G (p.Ser3656Gly)
|
rs774373483
|
|
NM_000540.3(RYR1):c.10981T>A (p.Trp3661Arg)
|
|
|
NM_000540.3(RYR1):c.10982G>C (p.Trp3661Ser)
|
|
|
NM_000540.3(RYR1):c.10990A>G (p.Thr3664Ala)
|
|
|
NM_000540.3(RYR1):c.10996G>A (p.Asp3666Asn)
|
|
|
NM_000540.3(RYR1):c.10999C>T (p.His3667Tyr)
|
|
|
NM_000540.3(RYR1):c.11000A>G (p.His3667Arg)
|
|
|
NM_000540.3(RYR1):c.11014C>A (p.Arg3672Ser)
|
rs765145018
|
|
NM_000540.3(RYR1):c.11014C>T (p.Arg3672Cys)
|
rs765145018
|
|
NM_000540.3(RYR1):c.11020A>G (p.Ile3674Val)
|
rs1184741729
|
|
NM_000540.3(RYR1):c.11021T>C (p.Ile3674Thr)
|
|
|
NM_000540.3(RYR1):c.11024A>G (p.Asp3675Gly)
|
|
|
NM_000540.3(RYR1):c.11025T>A (p.Asp3675Glu)
|
|
|
NM_000540.3(RYR1):c.11026G>A (p.Asp3676Asn)
|
|
|
NM_000540.3(RYR1):c.11028C>A (p.Asp3676Glu)
|
|
|
NM_000540.3(RYR1):c.11042G>A (p.Gly3681Glu)
|
|
|
NM_000540.3(RYR1):c.11048A>G (p.Gln3683Arg)
|
rs1600937472
|
|
NM_000540.3(RYR1):c.11049GGA[2] (p.Glu3687_Glu3689del)
|
rs760784102
|
|
NM_000540.3(RYR1):c.11049GGA[4] (p.Glu3689del)
|
rs760784102
|
|
NM_000540.3(RYR1):c.11049GGA[6] (p.Glu3689dup)
|
rs760784102
|
|
NM_000540.3(RYR1):c.11050G>A (p.Glu3684Lys)
|
rs2145724866
|
|
NM_000540.3(RYR1):c.11053G>A (p.Glu3685Lys)
|
|
|
NM_000540.3(RYR1):c.11053G>C (p.Glu3685Gln)
|
rs745315302
|
|
NM_000540.3(RYR1):c.1105G>C (p.Gly369Arg)
|
|
|
NM_000540.3(RYR1):c.11064_11066dup (p.Glu3689_Val3690insGlu)
|
|
|
NM_000540.3(RYR1):c.11071G>A (p.Glu3691Lys)
|
|
|
NM_000540.3(RYR1):c.11077AAG[1] (p.Lys3694del)
|
|
|
NM_000540.3(RYR1):c.11079G>T (p.Lys3693Asn)
|
|
|
NM_000540.3(RYR1):c.11082G>T (p.Lys3694Asn)
|
|
|
NM_000540.3(RYR1):c.11086G>C (p.Asp3696His)
|
rs2145724998
|
|
NM_000540.3(RYR1):c.11089C>T (p.Pro3697Ser)
|
|
|
NM_000540.3(RYR1):c.1108G>A (p.Val370Met)
|
rs537344365
|
|
NM_000540.3(RYR1):c.1108G>C (p.Val370Leu)
|
rs537344365
|
|
NM_000540.3(RYR1):c.1108G>T (p.Val370Leu)
|
|
|
NM_000540.3(RYR1):c.11096A>C (p.His3699Pro)
|
|
|
NM_000540.3(RYR1):c.11097C>A (p.His3699Gln)
|
|
|
NM_000540.3(RYR1):c.11100G>T (p.Gln3700His)
|
|
|
NM_000540.3(RYR1):c.11111A>G (p.His3704Arg)
|
|
|
NM_000540.3(RYR1):c.11117_11122dup (p.Arg3707_Thr3708insSerArg)
|
|
|
NM_000540.3(RYR1):c.11119C>T (p.Arg3707Cys)
|
rs781379239
|
|
NM_000540.3(RYR1):c.1111C>A (p.Leu371Ile)
|
|
|
NM_000540.3(RYR1):c.11120G>A (p.Arg3707His)
|
|
|
NM_000540.3(RYR1):c.11120G>C (p.Arg3707Pro)
|
rs193922838
|
|
NM_000540.3(RYR1):c.11120G>T (p.Arg3707Leu)
|
rs193922838
|
|
NM_000540.3(RYR1):c.11123C>G (p.Thr3708Ser)
|
|
|
NM_000540.3(RYR1):c.11126C>T (p.Ala3709Val)
|
rs1555791418
|
|
NM_000540.3(RYR1):c.11132C>G (p.Thr3711Arg)
|
rs375915752
|
|
NM_000540.3(RYR1):c.11132C>T (p.Thr3711Met)
|
rs375915752
|
|
NM_000540.3(RYR1):c.11135A>G (p.Glu3712Gly)
|
|
|
NM_000540.3(RYR1):c.11138A>G (p.Lys3713Arg)
|
rs1971614117
|
|
NM_000540.3(RYR1):c.11141+6G>A
|
|
|
NM_000540.3(RYR1):c.11141G>A (p.Ser3714Asn)
|
rs772821039
|
|
NM_000540.3(RYR1):c.11141G>T (p.Ser3714Ile)
|
rs772821039
|
|
NM_000540.3(RYR1):c.11145A>T (p.Lys3715Asn)
|
|
|
NM_000540.3(RYR1):c.11147T>A (p.Leu3716Gln)
|
|
|
NM_000540.3(RYR1):c.1114AAG[2] (p.Lys374del)
|
rs745569223
|
|
NM_000540.3(RYR1):c.11152G>A (p.Glu3718Lys)
|
|
|
NM_000540.3(RYR1):c.11154G>T (p.Glu3718Asp)
|
|
|
NM_000540.3(RYR1):c.11154_11155delinsTC (p.Glu3718_Asp3719delinsAspHis)
|
rs1971783338
|
|
NM_000540.3(RYR1):c.11155G>C (p.Asp3719His)
|
|
|
NM_000540.3(RYR1):c.11159A>G (p.Tyr3720Cys)
|
|
|
NM_000540.3(RYR1):c.11159_11162dup (p.Tyr3722fs)
|
rs2145736348
|
|
NM_000540.3(RYR1):c.11171C>T (p.Ala3724Val)
|
|
|
NM_000540.3(RYR1):c.11176G>A (p.Ala3726Thr)
|
|
|
NM_000540.3(RYR1):c.11184C>G (p.Ile3728Met)
|
rs111200476
|
|
NM_000540.3(RYR1):c.11187G>A (p.Met3729Ile)
|
|
|
NM_000540.3(RYR1):c.11193+1G>A
|
|
|
NM_000540.3(RYR1):c.11194-3C>T
|
|
|
NM_000540.3(RYR1):c.11194-7T>G
|
|
|
NM_000540.3(RYR1):c.11194A>G (p.Ser3732Gly)
|
|
|
NM_000540.3(RYR1):c.11208G>T (p.Glu3736Asp)
|
|
|
NM_000540.3(RYR1):c.1122+4G>A
|
|
|
NM_000540.3(RYR1):c.1122+5G>A
|
rs1966928423
|
|
NM_000540.3(RYR1):c.1122+6T>G
|
rs1600657309
|
|
NM_000540.3(RYR1):c.11229A>C (p.Glu3743Asp)
|
|
|
NM_000540.3(RYR1):c.1123-3T>C
|
|
|
NM_000540.3(RYR1):c.11230del (p.Ala3744fs)
|
|
|
NM_000540.3(RYR1):c.11231C>G (p.Ala3744Gly)
|
rs1600950619
|
|
NM_000540.3(RYR1):c.11243T>C (p.Val3748Ala)
|
|
|
NM_000540.3(RYR1):c.11254T>C (p.Phe3752Leu)
|
rs2145737256
|
|
NM_000540.3(RYR1):c.11259+4G>A
|
|
|
NM_000540.3(RYR1):c.11266_11267del (p.Gln3756fs)
|
|
|
NM_000540.3(RYR1):c.11269A>T (p.Met3757Leu)
|
rs189249768
|
|
NM_000540.3(RYR1):c.11270T>G (p.Met3757Arg)
|
|
|
NM_000540.3(RYR1):c.11273A>G (p.Glu3758Gly)
|
|
|
NM_000540.3(RYR1):c.11284C>T (p.Leu3762Phe)
|
rs1373874840
|
|
NM_000540.3(RYR1):c.11292C>T (p.Tyr3764=)
|
rs886054401
|
|
NM_000540.3(RYR1):c.11294A>C (p.Gln3765Pro)
|
|
|
NM_000540.3(RYR1):c.11295G>C (p.Gln3765His)
|
|
|
NM_000540.3(RYR1):c.112G>A (p.Ala38Thr)
|
rs377558801
|
|
NM_000540.3(RYR1):c.112G>T (p.Ala38Ser)
|
rs377558801
|
|
NM_000540.3(RYR1):c.11303G>A (p.Arg3768Gln)
|
|
|
NM_000540.3(RYR1):c.11305C>T (p.Leu3769=)
|
|
|
NM_000540.3(RYR1):c.11308C>G (p.His3770Asp)
|
|
|
NM_000540.3(RYR1):c.11314C>G (p.Arg3772Gly)
|
rs763112609
|
|
NM_000540.3(RYR1):c.11315G>T (p.Arg3772Leu)
|
rs193922839
|
|
NM_000540.3(RYR1):c.1131G>A (p.Leu377=)
|
rs1555766901
|
|
NM_000540.3(RYR1):c.11321C>A (p.Ala3774Glu)
|
|
|
NM_000540.3(RYR1):c.11324C>T (p.Ala3775Val)
|
rs1971892835
|
|
NM_000540.3(RYR1):c.11325C>T (p.Ala3775=)
|
|
|
NM_000540.3(RYR1):c.11326G>A (p.Glu3776Lys)
|
|
|
NM_000540.3(RYR1):c.11336T>C (p.Leu3779Pro)
|
|
|
NM_000540.3(RYR1):c.11339A>C (p.Gln3780Pro)
|
|
|
NM_000540.3(RYR1):c.11342T>A (p.Met3781Lys)
|
rs973487940
|
|
NM_000540.3(RYR1):c.11348G>A (p.Ser3783Asn)
|
rs1971894276
|
|
NM_000540.3(RYR1):c.11354G>A (p.Cys3785Tyr)
|
rs1320234323
|
|
NM_000540.3(RYR1):c.11357A>G (p.Lys3786Arg)
|
rs2145744357
|
|
NM_000540.3(RYR1):c.11359+3G>A
|
|
|
NM_000540.3(RYR1):c.11359+4C>T
|
|
|
NM_000540.3(RYR1):c.11360-11_11360-10del
|
|
|
NM_000540.3(RYR1):c.11360G>A (p.Gly3787Glu)
|
|
|
NM_000540.3(RYR1):c.11363A>G (p.Glu3788Gly)
|
|
|
NM_000540.3(RYR1):c.11366C>T (p.Thr3789Ile)
|
|
|
NM_000540.3(RYR1):c.11369G>T (p.Gly3790Val)
|
|
|
NM_000540.3(RYR1):c.1136A>G (p.Gln379Arg)
|
|
|
NM_000540.3(RYR1):c.11384C>G (p.Ser3795Cys)
|
|
|
NM_000540.3(RYR1):c.11390T>C (p.Leu3797Pro)
|
|
|
NM_000540.3(RYR1):c.11392A>C (p.Lys3798Gln)
|
|
|
NM_000540.3(RYR1):c.11393A>G (p.Lys3798Arg)
|
|
|
NM_000540.3(RYR1):c.11414A>G (p.Asn3805Ser)
|
|
|
NM_000540.3(RYR1):c.11414A>T (p.Asn3805Ile)
|
|
|
NM_000540.3(RYR1):c.11416G>A (p.Gly3806Arg)
|
rs111565359
|
|
NM_000540.3(RYR1):c.11420G>A (p.Gly3807Asp)
|
|
|
NM_000540.3(RYR1):c.11432T>A (p.Val3811Asp)
|
|
|
NM_000540.3(RYR1):c.11433C>A (p.Val3811=)
|
|
|
NM_000540.3(RYR1):c.11443A>G (p.Met3815Val)
|
|
|
NM_000540.3(RYR1):c.11444T>C (p.Met3815Thr)
|
|
|
NM_000540.3(RYR1):c.11445G>T (p.Met3815Ile)
|
|
|
NM_000540.3(RYR1):c.11449G>A (p.Asp3817Asn)
|
|
|
NM_000540.3(RYR1):c.1144C>A (p.His382Asn)
|
rs2145374470
|
|
NM_000540.3(RYR1):c.11450A>G (p.Asp3817Gly)
|
|
|
NM_000540.3(RYR1):c.11455C>T (p.Leu3819Phe)
|
|
|
NM_000540.3(RYR1):c.11463C>A (p.Asp3821Glu)
|
|
|
NM_000540.3(RYR1):c.1147A>G (p.Met383Val)
|
|
|
NM_000540.3(RYR1):c.11486A>G (p.Gln3829Arg)
|
rs926889814
|
|
NM_000540.3(RYR1):c.11488A>G (p.Ser3830Gly)
|
|
|
NM_000540.3(RYR1):c.11491A>G (p.Ile3831Val)
|
|
|
NM_000540.3(RYR1):c.11501T>G (p.Leu3834Arg)
|
|
|
NM_000540.3(RYR1):c.11504T>G (p.Met3835Arg)
|
|
|
NM_000540.3(RYR1):c.11510C>T (p.Thr3837Ile)
|
|
|
NM_000540.3(RYR1):c.11512T>C (p.Cys3838Arg)
|
|
|
NM_000540.3(RYR1):c.11512T>G (p.Cys3838Gly)
|
|
|
NM_000540.3(RYR1):c.11514C>T (p.Cys3838=)
|
|
|
NM_000540.3(RYR1):c.11516G>A (p.Ser3839Asn)
|
|
|
NM_000540.3(RYR1):c.11516G>C (p.Ser3839Thr)
|
rs573322113
|
|
NM_000540.3(RYR1):c.11524G>C (p.Asp3842His)
|
|
|
NM_000540.3(RYR1):c.11531A>G (p.Asn3844Ser)
|
rs1461850175
|
|
NM_000540.3(RYR1):c.11531A>T (p.Asn3844Ile)
|
|
|
NM_000540.3(RYR1):c.11539G>C (p.Glu3847Gln)
|
|
|
NM_000540.3(RYR1):c.11543G>A (p.Arg3848Lys)
|
rs1452778797
|
|
NM_000540.3(RYR1):c.11548A>G (p.Asn3850Asp)
|
rs1600963167
|
|
NM_000540.3(RYR1):c.11549A>C (p.Asn3850Thr)
|
|
|
NM_000540.3(RYR1):c.11549A>G (p.Asn3850Ser)
|
|
|
NM_000540.3(RYR1):c.11554G>T (p.Ala3852Ser)
|
|
|
NM_000540.3(RYR1):c.11568C>T (p.Gly3856=)
|
|
|
NM_000540.3(RYR1):c.11571G>A (p.Met3857Ile)
|
rs1329151420
|
|
NM_000540.3(RYR1):c.11573T>A (p.Val3858Glu)
|
rs959531046
|
|
NM_000540.3(RYR1):c.11574G>A (p.Val3858=)
|
|
|
NM_000540.3(RYR1):c.11590+6G>A
|
|
|
NM_000540.3(RYR1):c.11591-5C>G
|
|
|
NM_000540.3(RYR1):c.11597A>G (p.Asn3866Ser)
|
|
|
NM_000540.3(RYR1):c.11603A>G (p.Gln3868Arg)
|
|
|
NM_000540.3(RYR1):c.11607C>G (p.Asn3869Lys)
|
|
|
NM_000540.3(RYR1):c.11608+1G>C
|
|
|
NM_000540.3(RYR1):c.11608+6del
|
|
|
NM_000540.3(RYR1):c.11608G>A (p.Gly3870Arg)
|
|
|
NM_000540.3(RYR1):c.1160T>A (p.Leu387Gln)
|
|
|
NM_000540.3(RYR1):c.11623G>A (p.Ala3875Thr)
|
rs764309886
|
|
NM_000540.3(RYR1):c.11624C>T (p.Ala3875Val)
|
|
|
NM_000540.3(RYR1):c.11631T>A (p.Asp3877Glu)
|
|
|
NM_000540.3(RYR1):c.11639C>A (p.Thr3880Lys)
|
|
|
NM_000540.3(RYR1):c.11641C>G (p.Gln3881Glu)
|
|
|
NM_000540.3(RYR1):c.11642A>G (p.Gln3881Arg)
|
rs1972043775
|
|
NM_000540.3(RYR1):c.11654G>A (p.Arg3885Gln)
|
|
|
NM_000540.3(RYR1):c.11668C>A (p.Leu3890Ile)
|
|
|
NM_000540.3(RYR1):c.11668C>T (p.Leu3890Phe)
|
rs779991914
|
|
NM_000540.3(RYR1):c.11680C>T (p.His3894Tyr)
|
rs2145756647
|
|
NM_000540.3(RYR1):c.11687A>G (p.Asn3896Ser)
|
|
|
NM_000540.3(RYR1):c.11687A>T (p.Asn3896Ile)
|
rs1555793251
|
|
NM_000540.3(RYR1):c.11693T>G (p.Phe3898Cys)
|
|
|
NM_000540.3(RYR1):c.11694C>A (p.Phe3898Leu)
|
rs2145774587
|
|
NM_000540.3(RYR1):c.11697G>T (p.Gln3899His)
|
rs1555794184
|
|
NM_000540.3(RYR1):c.11698A>T (p.Asn3900Tyr)
|
rs2145774604
|
|
NM_000540.3(RYR1):c.1169C>T (p.Thr390Ile)
|
|
|
NM_000540.3(RYR1):c.116A>G (p.Glu39Gly)
|
rs1600630863
|
|
NM_000540.3(RYR1):c.11705T>C (p.Leu3902Pro)
|
|
|
NM_000540.3(RYR1):c.11708G>C (p.Arg3903Pro)
|
|
|
NM_000540.3(RYR1):c.11716A>T (p.Thr3906Ser)
|
rs1972283336
|
|
NM_000540.3(RYR1):c.11716_11719del (p.Thr3906fs)
|
|
|
NM_000540.3(RYR1):c.1171C>T (p.Arg391Cys)
|
|
|
NM_000540.3(RYR1):c.11723A>G (p.Asn3908Ser)
|
|
|
NM_000540.3(RYR1):c.11723A>T (p.Asn3908Ile)
|
rs141803364
|
|
NM_000540.3(RYR1):c.1172G>C (p.Arg391Pro)
|
rs769387053
|
|
NM_000540.3(RYR1):c.11734A>G (p.Ile3912Val)
|
|
|
NM_000540.3(RYR1):c.11739CAT[2] (p.Ile3916del)
|
|
|
NM_000540.3(RYR1):c.11740A>G (p.Ile3914Val)
|
|
|
NM_000540.3(RYR1):c.11742C>G (p.Ile3914Met)
|
|
|
NM_000540.3(RYR1):c.11748T>G (p.Ile3916Met)
|
rs193922840
|
|
NM_000540.3(RYR1):c.1174_1176dup (p.Cys392_Gln393insCys)
|
|
|
NM_000540.3(RYR1):c.11750G>A (p.Cys3917Tyr)
|
|
|
NM_000540.3(RYR1):c.11755G>T (p.Val3919Leu)
|
|
|
NM_000540.3(RYR1):c.1175G>A (p.Cys392Tyr)
|
|
|
NM_000540.3(RYR1):c.11760C>G (p.Asp3920Glu)
|
rs1568557623
|
|
NM_000540.3(RYR1):c.11761T>C (p.Tyr3921His)
|
|
|
NM_000540.3(RYR1):c.11762A>T (p.Tyr3921Phe)
|
|
|
NM_000540.3(RYR1):c.11765T>C (p.Leu3922Pro)
|
|
|
NM_000540.3(RYR1):c.11770C>T (p.Arg3924Trp)
|
|
|
NM_000540.3(RYR1):c.11779-11G>A
|
|
|
NM_000540.3(RYR1):c.11782T>A (p.Ser3928Thr)
|
|
|
NM_000540.3(RYR1):c.11791G>A (p.Asp3931Asn)
|
|
|
NM_000540.3(RYR1):c.11807A>G (p.Tyr3936Cys)
|
|
|
NM_000540.3(RYR1):c.11809T>C (p.Ser3937Pro)
|
rs1972295482
|
|
NM_000540.3(RYR1):c.11810C>T (p.Ser3937Leu)
|
|
|
NM_000540.3(RYR1):c.11812G>A (p.Gly3938Ser)
|
|
|
NM_000540.3(RYR1):c.11812G>C (p.Gly3938Arg)
|
|
|
NM_000540.3(RYR1):c.11813G>A (p.Gly3938Asp)
|
rs1972296024
|
|
NM_000540.3(RYR1):c.11819A>G (p.Asp3940Gly)
|
rs1972296147
|
|
NM_000540.3(RYR1):c.1181A>G (p.Gln394Arg)
|
|
|
NM_000540.3(RYR1):c.11820T>G (p.Asp3940Glu)
|
rs1972296252
|
|
NM_000540.3(RYR1):c.11824A>G (p.Ile3942Val)
|
rs1185251744
|
|
NM_000540.3(RYR1):c.11852C>T (p.Ser3951Phe)
|
|
|
NM_000540.3(RYR1):c.11864C>G (p.Ser3955Trp)
|
rs751225696
|
|
NM_000540.3(RYR1):c.1186G>T (p.Glu396Ter)
|
|
|
NM_000540.3(RYR1):c.1186_1187inv (p.Glu396Ser)
|
|
|
NM_000540.3(RYR1):c.1187A>C (p.Glu396Ala)
|
|
|
NM_000540.3(RYR1):c.11885A>G (p.Asn3962Ser)
|
|
|
NM_000540.3(RYR1):c.11887A>G (p.Ser3963Gly)
|
|
|
NM_000540.3(RYR1):c.11888G>C (p.Ser3963Thr)
|
rs2145775695
|
|
NM_000540.3(RYR1):c.11905C>A (p.Gln3969Lys)
|
rs748748397
|
|
NM_000540.3(RYR1):c.11906A>G (p.Gln3969Arg)
|
rs1555794268
|
|
NM_000540.3(RYR1):c.11907+8G>A
|
rs886054402
|
|
NM_000540.3(RYR1):c.11909G>T (p.Gly3970Val)
|
|
|
NM_000540.3(RYR1):c.11911C>A (p.Pro3971Thr)
|
|
|
NM_000540.3(RYR1):c.11913C>G (p.Pro3971=)
|
|
|
NM_000540.3(RYR1):c.11920G>C (p.Gly3974Arg)
|
rs774432541
|
|
NM_000540.3(RYR1):c.11921G>A (p.Gly3974Glu)
|
|
|
NM_000540.3(RYR1):c.11929C>G (p.Gln3977Glu)
|
|
|
NM_000540.3(RYR1):c.11929C>T (p.Gln3977Ter)
|
rs1447117024
|
|
NM_000540.3(RYR1):c.11932A>G (p.Ser3978Gly)
|
|
|
NM_000540.3(RYR1):c.11933G>A (p.Ser3978Asn)
|
|
|
NM_000540.3(RYR1):c.11933G>C (p.Ser3978Thr)
|
|
|
NM_000540.3(RYR1):c.11947C>T (p.Arg3983Cys)
|
rs1600989183
|
|
NM_000540.3(RYR1):c.11953T>C (p.Trp3985Arg)
|
rs118204422
|
|
NM_000540.3(RYR1):c.11954G>A (p.Trp3985Ter)
|
|
|
NM_000540.3(RYR1):c.11956del (p.Asp3986fs)
|
|
|
NM_000540.3(RYR1):c.11958C>G (p.Asp3986Glu)
|
rs193922842
|
|
NM_000540.3(RYR1):c.11969G>C (p.Gly3990Ala)
|
rs193922843
|
|
NM_000540.3(RYR1):c.1196C>A (p.Ala399Asp)
|
rs1443878514
|
|
NM_000540.3(RYR1):c.1196C>T (p.Ala399Val)
|
rs1443878514
|
|
NM_000540.3(RYR1):c.11971T>C (p.Phe3991Leu)
|
|
|
NM_000540.3(RYR1):c.11973C>G (p.Phe3991Leu)
|
|
|
NM_000540.3(RYR1):c.11980G>A (p.Val3994Met)
|
|
|
NM_000540.3(RYR1):c.1198G>A (p.Ala400Thr)
|
rs777016690
|
|
NM_000540.3(RYR1):c.11990A>G (p.His3997Arg)
|
|
|
NM_000540.3(RYR1):c.11992A>G (p.Met3998Val)
|
|
|
NM_000540.3(RYR1):c.11993TGA[2] (p.Met4000del)
|
rs2145776584
|
|
NM_000540.3(RYR1):c.11997G>A (p.Met3999Ile)
|
|
|
NM_000540.3(RYR1):c.119G>C (p.Gly40Ala)
|
rs2145320724
|
|
NM_000540.3(RYR1):c.119G>T (p.Gly40Val)
|
|
|
NM_000540.3(RYR1):c.12000G>A (p.Met4000Ile)
|
rs1972311281
|
|
NM_000540.3(RYR1):c.12007G>T (p.Ala4003Ser)
|
|
|
NM_000540.3(RYR1):c.12010C>G (p.Gln4004Glu)
|
rs1972311901
|
|
NM_000540.3(RYR1):c.12012+1G>T
|
|
|
NM_000540.3(RYR1):c.12012G>A (p.Gln4004=)
|
|
|
NM_000540.3(RYR1):c.12013-11G>A
|
|
|
NM_000540.3(RYR1):c.12013G>T (p.Asp4005Tyr)
|
|
|
NM_000540.3(RYR1):c.12015C>A (p.Asp4005Glu)
|
|
|
NM_000540.3(RYR1):c.1201C>A (p.Arg401Ser)
|
rs193922764
|
|
NM_000540.3(RYR1):c.1201C>G (p.Arg401Gly)
|
rs193922764
|
|
NM_000540.3(RYR1):c.12024G>C (p.Gln4008His)
|
rs1972429144
|
|
NM_000540.3(RYR1):c.12035T>C (p.Leu4012Pro)
|
|
|
NM_000540.3(RYR1):c.12037_12048del (p.Lys4013_Leu4016del)
|
|
|
NM_000540.3(RYR1):c.12043C>G (p.Leu4015Val)
|
|
|
NM_000540.3(RYR1):c.12047T>C (p.Leu4016Pro)
|
rs1972430121
|
|
NM_000540.3(RYR1):c.12057G>C (p.Gln4019His)
|
|
|
NM_000540.3(RYR1):c.12061G>A (p.Asp4021Asn)
|
rs2145784423
|
|
NM_000540.3(RYR1):c.12063_12064dup (p.Met4022fs)
|
rs1419938249
|
|
NM_000540.3(RYR1):c.12065T>C (p.Met4022Thr)
|
|
|
NM_000540.3(RYR1):c.12065T>G (p.Met4022Arg)
|
|
|
NM_000540.3(RYR1):c.12066G>A (p.Met4022Ile)
|
|
|
NM_000540.3(RYR1):c.12068T>C (p.Val4023Ala)
|
|
|
NM_000540.3(RYR1):c.12070G>A (p.Val4024Met)
|
|
|
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu)
|
rs794728696
|
|
NM_000540.3(RYR1):c.12084G>T (p.Ser4028=)
|
rs571477269
|
|
NM_000540.3(RYR1):c.12094+4A>G
|
rs1972431144
|
|
NM_000540.3(RYR1):c.12095-14G>A
|
|
|
NM_000540.3(RYR1):c.1209C>G (p.Ile403Met)
|
rs118192116
|
|
NM_000540.3(RYR1):c.12100GTG[1] (p.Val4035del)
|
|
|
NM_000540.3(RYR1):c.12115A>T (p.Ile4039Phe)
|
rs2145790232
|
|
NM_000540.3(RYR1):c.12117C>T (p.Ile4039=)
|
|
|
NM_000540.3(RYR1):c.12118G>A (p.Ala4040Thr)
|
|
|
NM_000540.3(RYR1):c.1211A>G (p.His404Arg)
|
rs561546643
|
|
NM_000540.3(RYR1):c.12122G>A (p.Arg4041Gln)
|
|
|
NM_000540.3(RYR1):c.12127A>G (p.Met4043Val)
|
|
|
NM_000540.3(RYR1):c.12139C>T (p.Leu4047Phe)
|
|
|
NM_000540.3(RYR1):c.12142G>A (p.Val4048Met)
|
|
|
NM_000540.3(RYR1):c.12142G>C (p.Val4048Leu)
|
|
|
NM_000540.3(RYR1):c.12142G>T (p.Val4048Leu)
|
rs368835421
|
|
NM_000540.3(RYR1):c.12152C>T (p.Ser4051Leu)
|
rs1972518441
|
|
NM_000540.3(RYR1):c.12161T>G (p.Val4054Gly)
|
|
|
NM_000540.3(RYR1):c.12167T>A (p.Met4056Lys)
|
rs2145790453
|
|
NM_000540.3(RYR1):c.12173T>A (p.Leu4058His)
|
|
|
NM_000540.3(RYR1):c.1217C>T (p.Thr406Ile)
|
|
|
NM_000540.3(RYR1):c.12184G>A (p.Asp4062Asn)
|
|
|
NM_000540.3(RYR1):c.12188T>C (p.Met4063Thr)
|
rs777285788
|
|
NM_000540.3(RYR1):c.12189G>A (p.Met4063Ile)
|
|
|
NM_000540.3(RYR1):c.12191T>A (p.Phe4064Tyr)
|
|
|
NM_000540.3(RYR1):c.1219A>G (p.Asn407Asp)
|
|
|
NM_000540.3(RYR1):c.12204G>A (p.Lys4068=)
|
|
|
NM_000540.3(RYR1):c.1220A>G (p.Asn407Ser)
|
|
|
NM_000540.3(RYR1):c.12218C>G (p.Ser4073Cys)
|
|
|
NM_000540.3(RYR1):c.12218_12219delinsTA (p.Ser4073Leu)
|
rs1568562966
|
|
NM_000540.3(RYR1):c.12222A>T (p.Glu4074Asp)
|
|
|
NM_000540.3(RYR1):c.1222G>A (p.Gly408Ser)
|
|
|
NM_000540.3(RYR1):c.12235_12237del (p.Tyr4079del)
|
|
|
NM_000540.3(RYR1):c.12238G>A (p.Val4080Ile)
|
rs1293266518
|
|
NM_000540.3(RYR1):c.12245A>C (p.Asp4082Ala)
|
rs1972523098
|
|
NM_000540.3(RYR1):c.12250C>G (p.Arg4084Gly)
|
|
|
NM_000540.3(RYR1):c.12259A>C (p.Ile4087Leu)
|
rs2145790843
|
|
NM_000540.3(RYR1):c.12262T>C (p.Ser4088Pro)
|
|
|
NM_000540.3(RYR1):c.12266A>G (p.Lys4089Arg)
|
|
|
NM_000540.3(RYR1):c.12275T>C (p.Phe4092Ser)
|
rs2145790895
|
|
NM_000540.3(RYR1):c.12282+3G>A
|
rs1422270943
|
|
NM_000540.3(RYR1):c.12282+6T>A
|
|
|
NM_000540.3(RYR1):c.12287T>C (p.Met4096Thr)
|
rs1568575499
|
|
NM_000540.3(RYR1):c.12288G>A (p.Met4096Ile)
|
|
|
NM_000540.3(RYR1):c.12290A>C (p.Asp4097Ala)
|
rs1392049101
|
|
NM_000540.3(RYR1):c.12301C>T (p.Gln4101Ter)
|
|
|
NM_000540.3(RYR1):c.12313C>T (p.Pro4105Ser)
|
|
|
NM_000540.3(RYR1):c.12314C>T (p.Pro4105Leu)
|
|
|
NM_000540.3(RYR1):c.12316G>C (p.Glu4106Gln)
|
rs1013258657
|
|
NM_000540.3(RYR1):c.12319del (p.Ile4107fs)
|
rs754572007
|
|
NM_000540.3(RYR1):c.12320T>A (p.Ile4107Asn)
|
|
|
NM_000540.3(RYR1):c.12332T>G (p.Leu4111Arg)
|
|
|
NM_000540.3(RYR1):c.12340T>C (p.Ser4114Pro)
|
|
|
NM_000540.3(RYR1):c.12349G>A (p.Asp4117Asn)
|
|
|
NM_000540.3(RYR1):c.12349_12350delinsAT (p.Asp4117Ile)
|
rs1568575693
|
|
NM_000540.3(RYR1):c.12350A>T (p.Asp4117Val)
|
|
|
NM_000540.3(RYR1):c.12356A>T (p.Asn4119Ile)
|
|
|
NM_000540.3(RYR1):c.12358G>A (p.Glu4120Lys)
|
|
|
NM_000540.3(RYR1):c.12364A>G (p.Ile4122Val)
|
|
|
NM_000540.3(RYR1):c.12368A>C (p.Asn4123Thr)
|
|
|
NM_000540.3(RYR1):c.12373G>A (p.Glu4125Lys)
|
rs1973119741
|
|
NM_000540.3(RYR1):c.12373G>C (p.Glu4125Gln)
|
|
|
NM_000540.3(RYR1):c.12377A>G (p.Glu4126Gly)
|
|
|
NM_000540.3(RYR1):c.12382G>A (p.Ala4128Thr)
|
|
|
NM_000540.3(RYR1):c.12383C>T (p.Ala4128Val)
|
rs2145830877
|
|
NM_000540.3(RYR1):c.12394C>A (p.Gln4132Lys)
|
rs1317236359
|
|
NM_000540.3(RYR1):c.12394C>G (p.Gln4132Glu)
|
rs1317236359
|
|
NM_000540.3(RYR1):c.12395A>G (p.Gln4132Arg)
|
|
|
NM_000540.3(RYR1):c.12400C>G (p.Pro4134Ala)
|
|
|
NM_000540.3(RYR1):c.12406C>T (p.Arg4136Cys)
|
|
|
NM_000540.3(RYR1):c.12409G>A (p.Asp4137Asn)
|
|
|
NM_000540.3(RYR1):c.12413T>C (p.Ile4138Thr)
|
rs193922850
|
|
NM_000540.3(RYR1):c.12415G>A (p.Gly4139Ser)
|
rs1489505433
|
|
NM_000540.3(RYR1):c.12416G>A (p.Gly4139Asp)
|
rs1973122520
|
|
NM_000540.3(RYR1):c.12427G>A (p.Ala4143Thr)
|
|
|
NM_000540.3(RYR1):c.12433C>G (p.Leu4145Val)
|
|
|
NM_000540.3(RYR1):c.1243A>G (p.Lys415Glu)
|
|
|
NM_000540.3(RYR1):c.1244+3G>A
|
|
|
NM_000540.3(RYR1):c.1244+6del
|
|
|
NM_000540.3(RYR1):c.12440C>G (p.Thr4147Ser)
|
|
|
NM_000540.3(RYR1):c.12443A>C (p.Asn4148Thr)
|
rs1213878810
|
|
NM_000540.3(RYR1):c.12443A>G (p.Asn4148Ser)
|
|
|
NM_000540.3(RYR1):c.12444C>A (p.Asn4148Lys)
|
|
|
NM_000540.3(RYR1):c.12449C>T (p.Ser4150Leu)
|
rs143843083
|
|
NM_000540.3(RYR1):c.12455A>G (p.His4152Arg)
|
|
|
NM_000540.3(RYR1):c.12457G>A (p.Val4153Met)
|
rs890526256
|
|
NM_000540.3(RYR1):c.12458T>G (p.Val4153Gly)
|
|
|
NM_000540.3(RYR1):c.12460C>T (p.Pro4154Ser)
|
rs2145831197
|
|
NM_000540.3(RYR1):c.12463C>G (p.His4155Asp)
|
|
|
NM_000540.3(RYR1):c.12464A>T (p.His4155Leu)
|
|
|
NM_000540.3(RYR1):c.12470C>T (p.Pro4157Leu)
|
|
|
NM_000540.3(RYR1):c.12473G>A (p.Arg4158His)
|
|
|
NM_000540.3(RYR1):c.12486C>A (p.Phe4162Leu)
|
|
|
NM_000540.3(RYR1):c.12487C>G (p.Leu4163Val)
|
|
|
NM_000540.3(RYR1):c.12494T>G (p.Leu4165Arg)
|
rs1555798592
|
|
NM_000540.3(RYR1):c.12497C>G (p.Ala4166Gly)
|
|
|
NM_000540.3(RYR1):c.12499G>A (p.Glu4167Lys)
|
|
|
NM_000540.3(RYR1):c.124G>A (p.Gly42Ser)
|
|
|
NM_000540.3(RYR1):c.124G>C (p.Gly42Arg)
|
rs759417601
|
|
NM_000540.3(RYR1):c.12503_12504delinsTT (p.Ser4168Ile)
|
rs1973128519
|
|
NM_000540.3(RYR1):c.12521G>C (p.Arg4174Pro)
|
rs1568576113
|
|
NM_000540.3(RYR1):c.12523C>T (p.Pro4175Ser)
|
rs776736001
|
|
NM_000540.3(RYR1):c.12526_12527insGCCT (p.Tyr4176fs)
|
rs2145831520
|
|
NM_000540.3(RYR1):c.12527A>T (p.Tyr4176Phe)
|
|
|
NM_000540.3(RYR1):c.12531_12557dup (p.Ser4186_Arg4187insGlyArgIleGluIleMetGlyAlaSer)
|
|
|
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.12539T>C (p.Ile4180Thr)
|
|
|
NM_000540.3(RYR1):c.12544_12554del (p.Ile4182fs)
|
|
|
NM_000540.3(RYR1):c.12544_12570del (p.Ile4182_Glu4190del)
|
rs1238215145
|
|
NM_000540.3(RYR1):c.12545T>A (p.Ile4182Asn)
|
|
|
NM_000540.3(RYR1):c.1254C>G (p.Asp418Glu)
|
|
|
NM_000540.3(RYR1):c.12550G>T (p.Gly4184Cys)
|
rs1973131361
|
|
NM_000540.3(RYR1):c.12551G>C (p.Gly4184Ala)
|
rs1555798622
|
|
NM_000540.3(RYR1):c.12553G>T (p.Ala4185Ser)
|
|
|
NM_000540.3(RYR1):c.12554C>A (p.Ala4185Glu)
|
|
|
NM_000540.3(RYR1):c.12556T>C (p.Ser4186Pro)
|
|
|
NM_000540.3(RYR1):c.12559C>G (p.Arg4187Gly)
|
|
|
NM_000540.3(RYR1):c.12560G>C (p.Arg4187Pro)
|
|
|
NM_000540.3(RYR1):c.12562C>T (p.Arg4188Cys)
|
rs1379375429
|
|
NM_000540.3(RYR1):c.12563G>A (p.Arg4188His)
|
|
|
NM_000540.3(RYR1):c.12563G>T (p.Arg4188Leu)
|
rs749890987
|
|
NM_000540.3(RYR1):c.12567C>G (p.Ile4189Met)
|
|
|
NM_000540.3(RYR1):c.12568G>C (p.Glu4190Gln)
|
|
|
NM_000540.3(RYR1):c.12568_12576del (p.Glu4190_Ile4192del)
|
rs1176364208
|
|
NM_000540.3(RYR1):c.1256G>A (p.Ser419Asn)
|
|
|
NM_000540.3(RYR1):c.12571C>A (p.Arg4191Ser)
|
|
|
NM_000540.3(RYR1):c.12572G>C (p.Arg4191Pro)
|
rs765730833
|
|
NM_000540.3(RYR1):c.12575T>C (p.Ile4192Thr)
|
rs1555798659
|
|
NM_000540.3(RYR1):c.12577T>C (p.Tyr4193His)
|
|
|
NM_000540.3(RYR1):c.12578A>T (p.Tyr4193Phe)
|
rs1973134094
|
|
NM_000540.3(RYR1):c.12583G>A (p.Glu4195Lys)
|
|
|
NM_000540.3(RYR1):c.12585G>T (p.Glu4195Asp)
|
rs982601268
|
|
NM_000540.3(RYR1):c.12587T>G (p.Ile4196Ser)
|
|
|
NM_000540.3(RYR1):c.12590C>T (p.Ser4197Leu)
|
|
|
NM_000540.3(RYR1):c.12599A>G (p.Asn4200Ser)
|
rs199660276
|
|
NM_000540.3(RYR1):c.125G>A (p.Gly42Asp)
|
rs1972639264
|
|
NM_000540.3(RYR1):c.12601C>T (p.Arg4201Cys)
|
rs1568576431
|
|
NM_000540.3(RYR1):c.12604G>T (p.Ala4202Ser)
|
|
|
NM_000540.3(RYR1):c.12605C>G (p.Ala4202Gly)
|
|
|
NM_000540.3(RYR1):c.12605C>T (p.Ala4202Val)
|
|
|
NM_000540.3(RYR1):c.12613G>A (p.Glu4205Lys)
|
rs1361451153
|
|
NM_000540.3(RYR1):c.12619C>A (p.Pro4207Thr)
|
rs886054403
|
|
NM_000540.3(RYR1):c.12622C>G (p.Gln4208Glu)
|
|
|
NM_000540.3(RYR1):c.12624+2dup
|
|
|
NM_000540.3(RYR1):c.12624G>A (p.Gln4208=)
|
|
|
NM_000540.3(RYR1):c.12625-12C>G
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NM_000540.3(RYR1):c.12625G>C (p.Val4209Leu)
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NM_000540.3(RYR1):c.12628_12630del (p.Lys4210del)
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NM_000540.3(RYR1):c.1262G>A (p.Ser421Asn)
|
rs1600667607
|
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NM_000540.3(RYR1):c.12635C>G (p.Ser4212Cys)
|
rs1973322467
|
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NM_000540.3(RYR1):c.12638A>G (p.Lys4213Arg)
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|
NM_000540.3(RYR1):c.1263C>A (p.Ser421Arg)
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NM_000540.3(RYR1):c.12640C>A (p.Arg4214Ser)
|
rs1973322817
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NM_000540.3(RYR1):c.12641G>A (p.Arg4214His)
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NM_000540.3(RYR1):c.12652T>C (p.Phe4218Leu)
|
rs1568581720
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NM_000540.3(RYR1):c.12657C>G (p.Asp4219Glu)
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NM_000540.3(RYR1):c.12659_12670del (p.Val4220_Glu4223del)
|
rs2145843128
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NM_000540.3(RYR1):c.12666C>T (p.Asn4222=)
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NM_000540.3(RYR1):c.12667G>A (p.Glu4223Lys)
|
rs752060440
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NM_000540.3(RYR1):c.12673G>A (p.Gly4225Ser)
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NM_000540.3(RYR1):c.12679G>A (p.Ala4227Thr)
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NM_000540.3(RYR1):c.1267_1276dup (p.Gly426fs)
|
rs1967149532
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NM_000540.3(RYR1):c.12682G>A (p.Glu4228Lys)
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NM_000540.3(RYR1):c.12683A>C (p.Glu4228Ala)
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NM_000540.3(RYR1):c.12687G>T (p.Lys4229Asn)
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NM_000540.3(RYR1):c.12688A>T (p.Met4230Leu)
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NM_000540.3(RYR1):c.12689T>G (p.Met4230Arg)
|
rs1568581848
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NM_000540.3(RYR1):c.12693G>T (p.Glu4231Asp)
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NM_000540.3(RYR1):c.12694C>T (p.Leu4232Phe)
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NM_000540.3(RYR1):c.12695T>C (p.Leu4232Pro)
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NM_000540.3(RYR1):c.12700G>A (p.Val4234Met)
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NM_000540.3(RYR1):c.12718A>G (p.Thr4240Ala)
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NM_000540.3(RYR1):c.1271C>T (p.Pro424Leu)
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NM_000540.3(RYR1):c.12721A>G (p.Ile4241Val)
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NM_000540.3(RYR1):c.12733C>G (p.Gln4245Glu)
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NM_000540.3(RYR1):c.12739_12750del (p.Ala4247_Ile4250del)
|
rs2145843330
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NM_000540.3(RYR1):c.1273C>T (p.Arg425Trp)
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NM_000540.3(RYR1):c.12742G>A (p.Ala4248Thr)
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NM_000540.3(RYR1):c.12743C>T (p.Ala4248Val)
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rs1426362155
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NM_000540.3(RYR1):c.1274G>A (p.Arg425Gln)
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NM_000540.3(RYR1):c.1274G>C (p.Arg425Pro)
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NM_000540.3(RYR1):c.12752C>G (p.Ser4251Trp)
|
rs988659631
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NM_000540.3(RYR1):c.12752C>T (p.Ser4251Leu)
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NM_000540.3(RYR1):c.12754G>C (p.Glu4252Gln)
|
rs1973328675
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NM_000540.3(RYR1):c.12760G>A (p.Glu4254Lys)
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NM_000540.3(RYR1):c.12763G>A (p.Gly4255Ser)
|
rs1973329419
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NM_000540.3(RYR1):c.12765C>T (p.Gly4255=)
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NM_000540.3(RYR1):c.12766G>A (p.Glu4256Lys)
|
rs770517037
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NM_000540.3(RYR1):c.12770C>T (p.Pro4257Leu)
|
rs1236523624
|
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NM_000540.3(RYR1):c.12776C>T (p.Thr4259Ile)
|
rs759030560
|
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NM_000540.3(RYR1):c.12779ACGAGG[1] (p.4260DE[1])
|
rs746833347
|
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NM_000540.3(RYR1):c.12779ACGAGG[3] (p.4260DE[3])
|
rs746833347
|
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NM_000540.3(RYR1):c.12782A>C (p.Glu4261Ala)
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NM_000540.3(RYR1):c.12783G>C (p.Glu4261Asp)
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NM_000540.3(RYR1):c.12784G>A (p.Asp4262Asn)
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NM_000540.3(RYR1):c.12787G>A (p.Glu4263Lys)
|
rs1471120810
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NM_000540.3(RYR1):c.12788A>T (p.Glu4263Val)
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NM_000540.3(RYR1):c.12788_12793del (p.Glu4263_Gly4264del)
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NM_000540.3(RYR1):c.12791G>A (p.Gly4264Asp)
|
rs949615251
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NM_000540.3(RYR1):c.12791GCGCGG[3] (p.4264GA[3])
|
rs776979677
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NM_000540.3(RYR1):c.12792C>T (p.Gly4264=)
|
rs2145843696
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NM_000540.3(RYR1):c.12797_12817del (p.Gly4266_Ala4272del)
|
rs928648668
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NM_000540.3(RYR1):c.12797_12826dup (p.Gly4266_Ala4275dup)
|
rs1568582159
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NM_000540.3(RYR1):c.12799G>A (p.Ala4267Thr)
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NM_000540.3(RYR1):c.12803_12817del (p.Ala4268_Ala4272del)
|
rs938670458
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NM_000540.3(RYR1):c.12803_12817dup (p.Ala4272_Glu4273insAlaGluAlaGlyAla)
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|
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NM_000540.3(RYR1):c.12805G>A (p.Glu4269Lys)
|
rs1599634443
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NM_000540.3(RYR1):c.12806A>G (p.Glu4269Gly)
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|
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NM_000540.3(RYR1):c.12808G>A (p.Ala4270Thr)
|
rs1180037012
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NM_000540.3(RYR1):c.1280C>T (p.Ser427Leu)
|
rs118192118
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NM_000540.3(RYR1):c.12814G>T (p.Ala4272Ser)
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|
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NM_000540.3(RYR1):c.12818_12838del (p.Glu4273_Ala4279del)
|
rs1973335544
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NM_000540.3(RYR1):c.12819_12827dup (p.Glu4276_Glu4277insGlyAlaGlu)
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NM_000540.3(RYR1):c.12819_12830del (p.Glu4276_Ala4279del)
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NM_000540.3(RYR1):c.12820G>A (p.Gly4274Ser)
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NM_000540.3(RYR1):c.12821G>A (p.Gly4274Asp)
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NM_000540.3(RYR1):c.12823_12824delinsAT (p.Ala4275Met)
|
rs2145843965
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NM_000540.3(RYR1):c.12827_12838dup (p.Ala4279_Ala4280insGluGluGlyAla)
|
|
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NM_000540.3(RYR1):c.12829G>A (p.Glu4277Lys)
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NM_000540.3(RYR1):c.12830A>C (p.Glu4277Ala)
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NM_000540.3(RYR1):c.12835_12852dup (p.Ala4279_Gly4284dup)
|
rs1159068582
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NM_000540.3(RYR1):c.12836C>T (p.Ala4279Val)
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|
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NM_000540.3(RYR1):c.1283G>T (p.Gly428Val)
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|
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NM_000540.3(RYR1):c.12842G>C (p.Gly4281Ala)
|
rs754173025
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NM_000540.3(RYR1):c.12842G>T (p.Gly4281Val)
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|
|
NM_000540.3(RYR1):c.12842_12859del (p.Gly4281_Ala4286del)
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NM_000540.3(RYR1):c.12842_12859dup (p.Gly4281_Ala4286dup)
|
rs1339923680
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NM_000540.3(RYR1):c.12848A>T (p.Glu4283Val)
|
rs193922853
|
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NM_000540.3(RYR1):c.12850G>C (p.Gly4284Arg)
|
|
|
NM_000540.3(RYR1):c.12852CACGGCGGC[1] (p.4285TAA[1])
|
rs398123469
|
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NM_000540.3(RYR1):c.12852CACGGCGGC[4] (p.4285TAA[4])
|
rs398123469
|
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NM_000540.3(RYR1):c.12853_12864dup (p.Thr4285_Thr4288dup)
|
rs1599634685
|
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NM_000540.3(RYR1):c.12854C>T (p.Thr4285Met)
|
rs2145844223
|
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NM_000540.3(RYR1):c.12857C>A (p.Ala4286Glu)
|
rs1355994729
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NM_000540.3(RYR1):c.12857C>G (p.Ala4286Gly)
|
|
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NM_000540.3(RYR1):c.12860C>G (p.Ala4287Gly)
|
rs1973341591
|
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NM_000540.3(RYR1):c.12860_12869delinsT (p.Ala4287_Ala4290delinsVal)
|
rs796065337
|
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NM_000540.3(RYR1):c.12862_12867del (p.Thr4288_Ala4289del)
|
|
|
NM_000540.3(RYR1):c.12863CGG[2] (p.Ala4290_Ala4291del)
|
rs1228854800
|
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NM_000540.3(RYR1):c.12863CGG[5] (p.Ala4291_Gly4292insAla)
|
|
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NM_000540.3(RYR1):c.12874_12879dup (p.Gly4292_Ala4293dup)
|
rs2145844350
|
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NM_000540.3(RYR1):c.12878C>A (p.Ala4293Glu)
|
rs1223090052
|
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NM_000540.3(RYR1):c.12886C>G (p.Arg4296Gly)
|
|
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NM_000540.3(RYR1):c.12887G>C (p.Arg4296Pro)
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NM_000540.3(RYR1):c.12889G>C (p.Val4297Leu)
|
rs1973345393
|
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NM_000540.3(RYR1):c.12890_12910del (p.Val4297_Arg4303del)
|
|
|
NM_000540.3(RYR1):c.12892G>T (p.Val4298Leu)
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NM_000540.3(RYR1):c.12899C>T (p.Ala4300Val)
|
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NM_000540.3(RYR1):c.1289C>A (p.Pro430His)
|
|
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NM_000540.3(RYR1):c.12901G>A (p.Ala4301Thr)
|
rs1599634913
|
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NM_000540.3(RYR1):c.12907C>G (p.Arg4303Gly)
|
rs1027792397
|
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NM_000540.3(RYR1):c.12907C>T (p.Arg4303Trp)
|
rs1027792397
|
|
NM_000540.3(RYR1):c.12917G>A (p.Arg4306Gln)
|
rs2145844700
|
|
NM_000540.3(RYR1):c.1291G>A (p.Ala431Thr)
|
rs768357333
|
|
NM_000540.3(RYR1):c.12926G>T (p.Ser4309Ile)
|
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NM_000540.3(RYR1):c.12931C>A (p.Arg4311Ser)
|
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NM_000540.3(RYR1):c.12931C>T (p.Arg4311Cys)
|
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NM_000540.3(RYR1):c.12936_12956dup (p.Arg4322_Leu4323insArgValArgArgLeuArgArg)
|
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NM_000540.3(RYR1):c.12941G>A (p.Arg4314Gln)
|
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NM_000540.3(RYR1):c.12944G>T (p.Arg4315Leu)
|
rs1013126996
|
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NM_000540.3(RYR1):c.12947_12958del (p.Arg4316_Arg4319del)
|
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|
NM_000540.3(RYR1):c.12947_12958dup (p.Arg4316_Arg4319dup)
|
rs1455190973
|
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NM_000540.3(RYR1):c.12947_12967dup (p.Arg4322_Leu4323insArgValArgArgLeuArgArg)
|
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|
NM_000540.3(RYR1):c.12948_12949delinsGT (p.Val4317Leu)
|
|
|
NM_000540.3(RYR1):c.1294G>A (p.Gly432Ser)
|
rs1967153217
|
|
NM_000540.3(RYR1):c.12951GCGGCGGCT[1] (p.4318RRL[1])
|
rs193922846
|
|
NM_000540.3(RYR1):c.12951GCGGCGGCT[3] (p.4318RRL[3])
|
rs193922846
|
|
NM_000540.3(RYR1):c.12952C>G (p.Arg4318Gly)
|
rs1285531553
|
|
NM_000540.3(RYR1):c.12953G>A (p.Arg4318Gln)
|
|
|
NM_000540.3(RYR1):c.12954G>A (p.Arg4318=)
|
rs886054405
|
|
NM_000540.3(RYR1):c.12955C>T (p.Arg4319Trp)
|
rs1973350586
|
|
NM_000540.3(RYR1):c.12956G>C (p.Arg4319Pro)
|
rs539194350
|
|
NM_000540.3(RYR1):c.12956_12967dup (p.Arg4322_Leu4323insArgLeuArgArg)
|
|
|
NM_000540.3(RYR1):c.12961C>T (p.Arg4321Trp)
|
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|
NM_000540.3(RYR1):c.12971C>G (p.Thr4324Arg)
|
|
|
NM_000540.3(RYR1):c.12976C>T (p.Arg4326Cys)
|
rs2145845063
|
|
NM_000540.3(RYR1):c.12977G>T (p.Arg4326Leu)
|
rs2145845070
|
|
NM_000540.3(RYR1):c.12979G>A (p.Glu4327Lys)
|
|
|
NM_000540.3(RYR1):c.1297A>G (p.Thr433Ala)
|
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|
NM_000540.3(RYR1):c.12981G>C (p.Glu4327Asp)
|
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|
NM_000540.3(RYR1):c.12983C>G (p.Ala4328Gly)
|
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|
NM_000540.3(RYR1):c.12988A>C (p.Thr4330Pro)
|
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|
NM_000540.3(RYR1):c.12989C>T (p.Thr4330Ile)
|
|
|
NM_000540.3(RYR1):c.12990C>G (p.Thr4330=)
|
rs184450380
|
|
NM_000540.3(RYR1):c.12992C>T (p.Ala4331Val)
|
|
|
NM_000540.3(RYR1):c.1300G>A (p.Ala434Thr)
|
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|
NM_000540.3(RYR1):c.13013C>T (p.Ala4338Val)
|
|
|
NM_000540.3(RYR1):c.13022C>G (p.Thr4341Arg)
|
rs752855919
|
|
NM_000540.3(RYR1):c.13024C>T (p.Arg4342Cys)
|
|
|
NM_000540.3(RYR1):c.13027G>A (p.Ala4343Thr)
|
rs1204041410
|
|
NM_000540.3(RYR1):c.13027G>C (p.Ala4343Pro)
|
|
|
NM_000540.3(RYR1):c.13032_13040dup (p.4343AGA[3])
|
rs1036726331
|
|
NM_000540.3(RYR1):c.13038T>C (p.Ala4346=)
|
rs758223017
|
|
NM_000540.3(RYR1):c.13042G>A (p.Ala4348Thr)
|
rs2145845469
|
|
NM_000540.3(RYR1):c.13044G>A (p.Ala4348=)
|
rs794727985
|
|
NM_000540.3(RYR1):c.13046G>C (p.Gly4349Ala)
|
rs1568583133
|
|
NM_000540.3(RYR1):c.13046_13048dup (p.Gly4349_Ala4350insGly)
|
|
|
NM_000540.3(RYR1):c.13049CGG[5] (p.Ala4351_Ala4352dup)
|
rs1271736045
|
|
NM_000540.3(RYR1):c.1304T>C (p.Leu435Pro)
|
|
|
NM_000540.3(RYR1):c.13051G>A (p.Ala4351Thr)
|
|
|
NM_000540.3(RYR1):c.13054G>C (p.Ala4352Pro)
|
|
|
NM_000540.3(RYR1):c.13058G>A (p.Gly4353Asp)
|
|
|
NM_000540.3(RYR1):c.13060G>A (p.Ala4354Thr)
|
rs1214553487
|
|
NM_000540.3(RYR1):c.13064T>C (p.Leu4355Pro)
|
rs2145845685
|
|
NM_000540.3(RYR1):c.13066G>T (p.Gly4356Cys)
|
rs1973360489
|
|
NM_000540.3(RYR1):c.13072C>T (p.Leu4358Phe)
|
|
|
NM_000540.3(RYR1):c.1307C>G (p.Pro436Arg)
|
rs771433606
|
|
NM_000540.3(RYR1):c.13087T>G (p.Phe4363Val)
|
|
|
NM_000540.3(RYR1):c.13090G>A (p.Gly4364Ser)
|
rs1568583309
|
|
NM_000540.3(RYR1):c.13091G>C (p.Gly4364Ala)
|
rs1973361809
|
|
NM_000540.3(RYR1):c.13093G>T (p.Gly4365Cys)
|
rs1973362089
|
|
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys)
|
rs193922748
|
|
NM_000540.3(RYR1):c.13104G>A (p.Val4368=)
|
rs1357186643
|
|
NM_000540.3(RYR1):c.13109G>A (p.Gly4370Asp)
|
|
|
NM_000540.3(RYR1):c.13113C>G (p.Ala4371=)
|
rs1599635569
|
|
NM_000540.3(RYR1):c.1311C>G (p.Ile437Met)
|
rs777029846
|
|
NM_000540.3(RYR1):c.13128G>A (p.Val4376=)
|
rs886054406
|
|
NM_000540.3(RYR1):c.1312G>C (p.Glu438Gln)
|
rs765668209
|
|
NM_000540.3(RYR1):c.13132G>A (p.Glu4378Lys)
|
rs1277191700
|
|
NM_000540.3(RYR1):c.13132G>C (p.Glu4378Gln)
|
|
|
NM_000540.3(RYR1):c.13133A>G (p.Glu4378Gly)
|
|
|
NM_000540.3(RYR1):c.13145G>A (p.Gly4382Asp)
|
rs1973365556
|
|
NM_000540.3(RYR1):c.13151C>T (p.Pro4384Leu)
|
rs2145846123
|
|
NM_000540.3(RYR1):c.13153G>T (p.Asp4385Tyr)
|
rs1227202568
|
|
NM_000540.3(RYR1):c.13162A>G (p.Ser4388Gly)
|
rs1599635690
|
|
NM_000540.3(RYR1):c.13168G>A (p.Glu4390Lys)
|
rs1413644550
|
|
NM_000540.3(RYR1):c.13184A>C (p.Gln4395Pro)
|
rs1973368011
|
|
NM_000540.3(RYR1):c.13191C>T (p.Ala4397=)
|
rs543458339
|
|
NM_000540.3(RYR1):c.13192G>A (p.Gly4398Arg)
|
rs1472582325
|
|
NM_000540.3(RYR1):c.13196C>T (p.Pro4399Leu)
|
|
|
NM_000540.3(RYR1):c.13197_13202dup (p.Gly4401_Asp4402insGlyGly)
|
|
|
NM_000540.3(RYR1):c.13201G>A (p.Gly4401Arg)
|
rs1183376732
|
|
NM_000540.3(RYR1):c.13208C>T (p.Ala4403Val)
|
|
|
NM_000540.3(RYR1):c.13208_13210del (p.Ala4403del)
|
|
|
NM_000540.3(RYR1):c.13213G>A (p.Gly4405Ser)
|
|
|
NM_000540.3(RYR1):c.13213_13224dup (p.Gly4405_Ala4408dup)
|
rs775571885
|
|
NM_000540.3(RYR1):c.13215C>T (p.Gly4405=)
|
|
|
NM_000540.3(RYR1):c.13220G>A (p.Gly4407Asp)
|
rs761108833
|
|
NM_000540.3(RYR1):c.13224_13235dup (p.Ser4409_Ala4412dup)
|
rs1599635941
|
|
NM_000540.3(RYR1):c.13225_13245del (p.Ser4409_Ala4415del)
|
|
|
NM_000540.3(RYR1):c.13230G>C (p.Glu4410Asp)
|
rs942942261
|
|
NM_000540.3(RYR1):c.13235C>G (p.Ala4412Gly)
|
|
|
NM_000540.3(RYR1):c.13237G>A (p.Gly4413Arg)
|
|
|
NM_000540.3(RYR1):c.13244C>T (p.Ala4415Val)
|
|
|
NM_000540.3(RYR1):c.13244_13264del (p.Ala4415_Asp4421del)
|
rs763413580
|
|
NM_000540.3(RYR1):c.13244_13264dup (p.Ala4415_Asp4421dup)
|
rs763413580
|
|
NM_000540.3(RYR1):c.13248_13256del (p.Glu4417_Ala4419del)
|
rs2145846755
|
|
NM_000540.3(RYR1):c.1324C>A (p.Leu442Met)
|
|
|
NM_000540.3(RYR1):c.13256C>G (p.Ala4419Gly)
|
|
|
NM_000540.3(RYR1):c.13265AGG[2] (p.Glu4424del)
|
rs930978242
|
|
NM_000540.3(RYR1):c.13268A>C (p.Glu4423Ala)
|
rs1358394495
|
|
NM_000540.3(RYR1):c.13348G>C (p.Gly4450Arg)
|
|
|
NM_000540.3(RYR1):c.13352C>A (p.Ala4451Asp)
|
rs886054408
|
|
NM_000540.3(RYR1):c.13352C>T (p.Ala4451Val)
|
|
|
NM_000540.3(RYR1):c.13355_13356delinsAT (p.Gly4452Asp)
|
rs1973385537
|
|
NM_000540.3(RYR1):c.13358G>T (p.Gly4453Val)
|
|
|
NM_000540.3(RYR1):c.13359_13364dup (p.Leu4454_Gly4455dup)
|
rs886054409
|
|
NM_000540.3(RYR1):c.1335G>T (p.Gln445His)
|
|
|
NM_000540.3(RYR1):c.13363G>A (p.Gly4455Arg)
|
|
|
NM_000540.3(RYR1):c.13375G>A (p.Asp4459Asn)
|
|
|
NM_000540.3(RYR1):c.13377C>A (p.Asp4459Glu)
|
|
|
NM_000540.3(RYR1):c.13379C>A (p.Thr4460Lys)
|
|
|
NM_000540.3(RYR1):c.13379C>T (p.Thr4460Met)
|
rs955320442
|
|
NM_000540.3(RYR1):c.13381A>T (p.Thr4461Ser)
|
|
|
NM_000540.3(RYR1):c.13382C>A (p.Thr4461Lys)
|
|
|
NM_000540.3(RYR1):c.13382C>T (p.Thr4461Met)
|
|
|
NM_000540.3(RYR1):c.13385C>T (p.Pro4462Leu)
|
rs1012029407
|
|
NM_000540.3(RYR1):c.13388C>A (p.Ala4463Glu)
|
|
|
NM_000540.3(RYR1):c.13388C>T (p.Ala4463Val)
|
rs1350916629
|
|
NM_000540.3(RYR1):c.13391A>C (p.Glu4464Ala)
|
|
|
NM_000540.3(RYR1):c.13394C>T (p.Pro4465Leu)
|
|
|
NM_000540.3(RYR1):c.13396C>A (p.Pro4466Thr)
|
|
|
NM_000540.3(RYR1):c.13397C>G (p.Pro4466Arg)
|
|
|
NM_000540.3(RYR1):c.133C>G (p.Leu45Val)
|
|
|
NM_000540.3(RYR1):c.13402C>A (p.Pro4468Thr)
|
|
|
NM_000540.3(RYR1):c.13402C>T (p.Pro4468Ser)
|
|
|
NM_000540.3(RYR1):c.13405G>A (p.Glu4469Lys)
|
|
|
NM_000540.3(RYR1):c.13408G>A (p.Gly4470Ser)
|
|
|
NM_000540.3(RYR1):c.13409G>T (p.Gly4470Val)
|
rs1261297305
|
|
NM_000540.3(RYR1):c.13411T>G (p.Ser4471Ala)
|
|
|
NM_000540.3(RYR1):c.13412C>A (p.Ser4471Tyr)
|
rs1973389067
|
|
NM_000540.3(RYR1):c.13414C>T (p.Pro4472Ser)
|
|
|
NM_000540.3(RYR1):c.13415C>G (p.Pro4472Arg)
|
rs1973389353
|
|
NM_000540.3(RYR1):c.13416C>T (p.Pro4472=)
|
|
|
NM_000540.3(RYR1):c.13424A>G (p.Lys4475Arg)
|
|
|
NM_000540.3(RYR1):c.1342A>T (p.Ile448Phe)
|
rs911417327
|
|
NM_000540.3(RYR1):c.13430A>G (p.Lys4477Arg)
|
|
|
NM_000540.3(RYR1):c.13431A>T (p.Lys4477Asn)
|
rs1973390396
|
|
NM_000540.3(RYR1):c.13433T>G (p.Leu4478Trp)
|
|
|
NM_000540.3(RYR1):c.13435G>C (p.Gly4479Arg)
|
|
|
NM_000540.3(RYR1):c.13437+14C>A
|
rs771599721
|
|
NM_000540.3(RYR1):c.13437+14C>T
|
rs771599721
|
|
NM_000540.3(RYR1):c.13437G>T (p.Gly4479=)
|
|
|
NM_000540.3(RYR1):c.13438-1G>C
|
|
|
NM_000540.3(RYR1):c.13438-6C>G
|
|
|
NM_000540.3(RYR1):c.13453G>A (p.Glu4485Lys)
|
|
|
NM_000540.3(RYR1):c.13454A>G (p.Glu4485Gly)
|
|
|
NM_000540.3(RYR1):c.13456G>A (p.Glu4486Lys)
|
|
|
NM_000540.3(RYR1):c.13462C>T (p.Pro4488Ser)
|
|
|
NM_000540.3(RYR1):c.13463C>T (p.Pro4488Leu)
|
|
|
NM_000540.3(RYR1):c.13467AGAGCC[3] (p.4489PE[6])
|
rs751816707
|
|
NM_000540.3(RYR1):c.13468G>A (p.Glu4490Lys)
|
|
|
NM_000540.3(RYR1):c.13470_13487dup (p.Glu4498_Leu4499insProGluProGluProGlu)
|
|
|
NM_000540.3(RYR1):c.13471C>G (p.Pro4491Ala)
|
|
|
NM_000540.3(RYR1):c.13476_13487del (p.4489PE[3])
|
rs2145852626
|
|
NM_000540.3(RYR1):c.13477C>T (p.Pro4493Ser)
|
|
|
NM_000540.3(RYR1):c.13478C>A (p.Pro4493His)
|
|
|
NM_000540.3(RYR1):c.13479_13484dup (p.4489PE[6])
|
rs765913714
|
|
NM_000540.3(RYR1):c.13484C>G (p.Pro4495Arg)
|
|
|
NM_000540.3(RYR1):c.13484_13495del (p.4489PE[3])
|
|
|
NM_000540.3(RYR1):c.13488_13505del (p.Pro4497_Glu4502del)
|
|
|
NM_000540.3(RYR1):c.13490C>G (p.Pro4497Arg)
|
|
|
NM_000540.3(RYR1):c.1349A>G (p.Tyr450Cys)
|
rs1967156624
|
|
NM_000540.3(RYR1):c.134T>C (p.Leu45Pro)
|
|
|
NM_000540.3(RYR1):c.13501C>A (p.Pro4501Thr)
|
|
|
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His)
|
rs150396398
|
|
NM_000540.3(RYR1):c.13514+6_13514+21dup
|
|
|
NM_000540.3(RYR1):c.13515-11C>G
|
|
|
NM_000540.3(RYR1):c.13525G>A (p.Gly4509Arg)
|
rs1973512099
|
|
NM_000540.3(RYR1):c.13528G>A (p.Glu4510Lys)
|
|
|
NM_000540.3(RYR1):c.13540G>T (p.Val4514Phe)
|
|
|
NM_000540.3(RYR1):c.13543C>A (p.Pro4515Thr)
|
|
|
NM_000540.3(RYR1):c.13546G>A (p.Glu4516Lys)
|
|
|
NM_000540.3(RYR1):c.1354G>A (p.Glu452Lys)
|
|
|
NM_000540.3(RYR1):c.13551C>T (p.Pro4517=)
|
rs886054410
|
|
NM_000540.3(RYR1):c.13564C>T (p.Pro4522Ser)
|
|
|
NM_000540.3(RYR1):c.13565C>A (p.Pro4522His)
|
rs145167688
|
|
NM_000540.3(RYR1):c.13565C>G (p.Pro4522Arg)
|
rs145167688
|
|
NM_000540.3(RYR1):c.13565C>T (p.Pro4522Leu)
|
rs145167688
|
|
NM_000540.3(RYR1):c.13577C>T (p.Ala4526Val)
|
|
|
NM_000540.3(RYR1):c.13579C>T (p.Pro4527Ser)
|
rs1049222611
|
|
NM_000540.3(RYR1):c.13583C>T (p.Pro4528Leu)
|
rs751025558
|
|
NM_000540.3(RYR1):c.13588C>T (p.Pro4530Ser)
|
|
|
NM_000540.3(RYR1):c.1358C>T (p.Pro453Leu)
|
|
|
NM_000540.3(RYR1):c.13591C>T (p.Pro4531Ser)
|
|
|
NM_000540.3(RYR1):c.13592C>T (p.Pro4531Leu)
|
|
|
NM_000540.3(RYR1):c.13594C>T (p.Pro4532Ser)
|
rs2145855568
|
|
NM_000540.3(RYR1):c.13597AAG[1] (p.Lys4534del)
|
rs1336472022
|
|
NM_000540.3(RYR1):c.13598A>C (p.Lys4533Thr)
|
|
|
NM_000540.3(RYR1):c.13599G>T (p.Lys4533Asn)
|
|
|
NM_000540.3(RYR1):c.13605G>C (p.Glu4535Asp)
|
rs779198972
|
|
NM_000540.3(RYR1):c.13606G>A (p.Glu4536Lys)
|
|
|
NM_000540.3(RYR1):c.1360C>T (p.Pro454Ser)
|
rs1967157631
|
|
NM_000540.3(RYR1):c.13613G>A (p.Gly4538Glu)
|
|
|
NM_000540.3(RYR1):c.13616G>A (p.Gly4539Asp)
|
rs1599641292
|
|
NM_000540.3(RYR1):c.13618G>A (p.Glu4540Lys)
|
|
|
NM_000540.3(RYR1):c.13628G>C (p.Gly4543Ala)
|
rs200002274
|
|
NM_000540.3(RYR1):c.13644G>C (p.Gln4548His)
|
|
|
NM_000540.3(RYR1):c.1364C>T (p.Ser455Phe)
|
rs1483259409
|
|
NM_000540.3(RYR1):c.13659+3A>G
|
|
|
NM_000540.3(RYR1):c.13659+6G>A
|
rs2145855847
|
|
NM_000540.3(RYR1):c.13664A>G (p.Tyr4555Cys)
|
|
|
NM_000540.3(RYR1):c.13670C>T (p.Ser4557Phe)
|
rs1973672468
|
|
NM_000540.3(RYR1):c.13677C>G (p.Asn4559Lys)
|
|
|
NM_000540.3(RYR1):c.13680T>C (p.Phe4560=)
|
rs377664510
|
|
NM_000540.3(RYR1):c.13687C>G (p.Leu4563Val)
|
|
|
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.13694T>G (p.Phe4565Cys)
|
|
|
NM_000540.3(RYR1):c.13694_13695delinsGT (p.Phe4565Cys)
|
|
|
NM_000540.3(RYR1):c.13699G>T (p.Ala4567Ser)
|
rs371441593
|
|
NM_000540.3(RYR1):c.13700C>T (p.Ala4567Val)
|
|
|
NM_000540.3(RYR1):c.13702C>G (p.Leu4568Val)
|
rs1599646668
|
|
NM_000540.3(RYR1):c.13703T>C (p.Leu4568Pro)
|
rs118192131
|
|
NM_000540.3(RYR1):c.13703T>G (p.Leu4568Arg)
|
rs118192131
|
|
NM_000540.3(RYR1):c.13714T>C (p.Phe4572Leu)
|
rs2145865333
|
|
NM_000540.3(RYR1):c.13717G>A (p.Ala4573Thr)
|
|
|
NM_000540.3(RYR1):c.13717G>C (p.Ala4573Pro)
|
rs1273456307
|
|
NM_000540.3(RYR1):c.13720A>G (p.Ile4574Val)
|
rs1458472157
|
|
NM_000540.3(RYR1):c.13724A>C (p.Asn4575Thr)
|
rs1568591803
|
|
NM_000540.3(RYR1):c.13726T>A (p.Phe4576Ile)
|
|
|
NM_000540.3(RYR1):c.13729A>G (p.Ile4577Val)
|
|
|
NM_000540.3(RYR1):c.13733T>A (p.Leu4578Ter)
|
|
|
NM_000540.3(RYR1):c.13739T>A (p.Phe4580Tyr)
|
|
|
NM_000540.3(RYR1):c.1373T>G (p.Leu458Trp)
|
|
|
NM_000540.3(RYR1):c.13741T>A (p.Tyr4581Asn)
|
rs2145865421
|
|
NM_000540.3(RYR1):c.13744A>G (p.Lys4582Glu)
|
|
|
NM_000540.3(RYR1):c.13746+4C>G
|
rs1973676634
|
|
NM_000540.3(RYR1):c.13756T>C (p.Ser4586Pro)
|
rs1555801840
|
|
NM_000540.3(RYR1):c.13757C>G (p.Ser4586Cys)
|
|
|
NM_000540.3(RYR1):c.13762C>T (p.Pro4588Ser)
|
rs2145869414
|
|
NM_000540.3(RYR1):c.13766G>C (p.Gly4589Ala)
|
|
|
NM_000540.3(RYR1):c.13768G>A (p.Glu4590Lys)
|
rs766518951
|
|
NM_000540.3(RYR1):c.1376A>G (p.Gln459Arg)
|
|
|
NM_000540.3(RYR1):c.13783G>A (p.Gly4595Ser)
|
|
|
NM_000540.3(RYR1):c.1378C>T (p.His460Tyr)
|
|
|
NM_000540.3(RYR1):c.13790C>T (p.Ala4597Val)
|
rs1048118323
|
|
NM_000540.3(RYR1):c.1379A>G (p.His460Arg)
|
rs1568445241
|
|
NM_000540.3(RYR1):c.13801G>A (p.Val4601Met)
|
|
|
NM_000540.3(RYR1):c.13802T>A (p.Val4601Glu)
|
|
|
NM_000540.3(RYR1):c.13807G>A (p.Gly4603Ser)
|
|
|
NM_000540.3(RYR1):c.13808G>A (p.Gly4603Asp)
|
rs747880466
|
|
NM_000540.3(RYR1):c.1380C>G (p.His460Gln)
|
rs750304434
|
|
NM_000540.3(RYR1):c.13814G>C (p.Gly4605Ala)
|
rs1177853101
|
|
NM_000540.3(RYR1):c.13829C>G (p.Ser4610Cys)
|
|
|
NM_000540.3(RYR1):c.13832G>A (p.Gly4611Asp)
|
rs2145869746
|
|
NM_000540.3(RYR1):c.13832G>C (p.Gly4611Ala)
|
|
|
NM_000540.3(RYR1):c.13833C>G (p.Gly4611=)
|
|
|
NM_000540.3(RYR1):c.13834T>G (p.Trp4612Gly)
|
|
|
NM_000540.3(RYR1):c.13846G>T (p.Ala4616Ser)
|
|
|
NM_000540.3(RYR1):c.1384G>A (p.Glu462Lys)
|
rs199592055
|
|
NM_000540.3(RYR1):c.13850G>A (p.Gly4617Glu)
|
|
|
NM_000540.3(RYR1):c.13851A>G (p.Gly4617=)
|
rs794727989
|
|
NM_000540.3(RYR1):c.13852G>A (p.Glu4618Lys)
|
|
|
NM_000540.3(RYR1):c.13858G>A (p.Ala4620Thr)
|
|
|
NM_000540.3(RYR1):c.13864G>A (p.Gly4622Ser)
|
|
|
NM_000540.3(RYR1):c.13865G>C (p.Gly4622Ala)
|
rs760940805
|
|
NM_000540.3(RYR1):c.13876G>A (p.Glu4626Lys)
|
|
|
NM_000540.3(RYR1):c.13877A>C (p.Glu4626Ala)
|
|
|
NM_000540.3(RYR1):c.13882A>G (p.Met4628Val)
|
rs2145869953
|
|
NM_000540.3(RYR1):c.13887G>A (p.Val4629=)
|
rs1568593906
|
|
NM_000540.3(RYR1):c.13892A>G (p.Tyr4631Cys)
|
rs1568593922
|
|
NM_000540.3(RYR1):c.13899G>A (p.Leu4633=)
|
|
|
NM_000540.3(RYR1):c.13904A>G (p.Glu4635Gly)
|
rs1568593984
|
|
NM_000540.3(RYR1):c.13906A>G (p.Ser4636Gly)
|
rs374145578
|
|
NM_000540.3(RYR1):c.13909A>C (p.Thr4637Pro)
|
|
|
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.13920G>A (p.Met4640Ile)
|
rs1568594079
|
|
NM_000540.3(RYR1):c.13924C>G (p.Pro4642Ala)
|
rs780958728
|
|
NM_000540.3(RYR1):c.13924C>T (p.Pro4642Ser)
|
|
|
NM_000540.3(RYR1):c.13925C>G (p.Pro4642Arg)
|
|
|
NM_000540.3(RYR1):c.13925C>T (p.Pro4642Leu)
|
rs2145870190
|
|
NM_000540.3(RYR1):c.13927G>T (p.Ala4643Ser)
|
|
|
NM_000540.3(RYR1):c.13928C>T (p.Ala4643Val)
|
|
|
NM_000540.3(RYR1):c.13930C>A (p.Leu4644Met)
|
|
|
NM_000540.3(RYR1):c.13931T>C (p.Leu4644Pro)
|
rs1568594108
|
|
NM_000540.3(RYR1):c.13933C>G (p.Arg4645Gly)
|
rs377667641
|
|
NM_000540.3(RYR1):c.13934G>C (p.Arg4645Pro)
|
rs193922860
|
|
NM_000540.3(RYR1):c.13937G>A (p.Cys4646Tyr)
|
rs2145870253
|
|
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.13955C>T (p.Thr4652Ile)
|
|
|
NM_000540.3(RYR1):c.1396A>C (p.Lys466Gln)
|
|
|
NM_000540.3(RYR1):c.13979T>C (p.Ile4660Thr)
|
|
|
NM_000540.3(RYR1):c.13985A>G (p.Tyr4662Cys)
|
|
|
NM_000540.3(RYR1):c.13994_13995delinsCT (p.Leu4665Pro)
|
rs193922862
|
|
NM_000540.3(RYR1):c.13996A>G (p.Lys4666Glu)
|
|
|
NM_000540.3(RYR1):c.13999-3C>G
|
|
|
NM_000540.3(RYR1):c.14001_14002delinsTT (p.Pro4668Ser)
|
rs1973801119
|
|
NM_000540.3(RYR1):c.14003C>T (p.Pro4668Leu)
|
|
|
NM_000540.3(RYR1):c.14009T>C (p.Val4670Ala)
|
|
|
NM_000540.3(RYR1):c.14016T>A (p.Phe4672Leu)
|
rs1973802133
|
|
NM_000540.3(RYR1):c.14031G>C (p.Glu4677Asp)
|
|
|
NM_000540.3(RYR1):c.14031G>T (p.Glu4677Asp)
|
|
|
NM_000540.3(RYR1):c.14035G>A (p.Ala4679Thr)
|
|
|
NM_000540.3(RYR1):c.14038C>T (p.Arg4680Trp)
|
|
|
NM_000540.3(RYR1):c.14039G>A (p.Arg4680Gln)
|
|
|
NM_000540.3(RYR1):c.1403G>A (p.Arg468Gln)
|
|
|
NM_000540.3(RYR1):c.14048A>C (p.Glu4683Ala)
|
|
|
NM_000540.3(RYR1):c.1404_1412del (p.Ser469_Arg471del)
|
rs1555767373
|
|
NM_000540.3(RYR1):c.14051T>C (p.Phe4684Ser)
|
rs193922864
|
|
NM_000540.3(RYR1):c.14057G>A (p.Gly4686Asp)
|
|
|
NM_000540.3(RYR1):c.14058C>T (p.Gly4686=)
|
|
|
NM_000540.3(RYR1):c.14063A>G (p.Tyr4688Cys)
|
|
|
NM_000540.3(RYR1):c.14069C>T (p.Thr4690Met)
|
|
|
NM_000540.3(RYR1):c.1406G>C (p.Ser469Thr)
|
|
|
NM_000540.3(RYR1):c.14073G>A (p.Glu4691=)
|
|
|
NM_000540.3(RYR1):c.14078C>T (p.Pro4693Leu)
|
|
|
NM_000540.3(RYR1):c.14083G>A (p.Asp4695Asn)
|
|
|
NM_000540.3(RYR1):c.14085C>A (p.Asp4695Glu)
|
rs1248688892
|
|
NM_000540.3(RYR1):c.14086G>C (p.Asp4696His)
|
rs781575677
|
|
NM_000540.3(RYR1):c.14090A>G (p.Asp4697Gly)
|
|
|
NM_000540.3(RYR1):c.14100G>T (p.Gly4700=)
|
|
|
NM_000540.3(RYR1):c.14104T>C (p.Trp4702Arg)
|
rs2145874187
|
|
NM_000540.3(RYR1):c.14111G>A (p.Arg4704Gln)
|
|
|
NM_000540.3(RYR1):c.1411C>A (p.Arg471Ser)
|
|
|
NM_000540.3(RYR1):c.1411C>G (p.Arg471Gly)
|
|
|
NM_000540.3(RYR1):c.1411C>T (p.Arg471Cys)
|
rs1376393998
|
|
NM_000540.3(RYR1):c.14128C>G (p.Pro4710Ala)
|
|
|
NM_000540.3(RYR1):c.14129C>G (p.Pro4710Arg)
|
|
|
NM_000540.3(RYR1):c.14131T>C (p.Ser4711Pro)
|
|
|
NM_000540.3(RYR1):c.14138C>T (p.Pro4713Leu)
|
|
|
NM_000540.3(RYR1):c.14141G>A (p.Ser4714Asn)
|
|
|
NM_000540.3(RYR1):c.14155A>G (p.Lys4719Glu)
|
|
|
NM_000540.3(RYR1):c.14159T>C (p.Phe4720Ser)
|
rs2145882148
|
|
NM_000540.3(RYR1):c.1415A>G (p.Asn472Ser)
|
rs1057518361
|
|
NM_000540.3(RYR1):c.14167C>A (p.Arg4723Ser)
|
rs200473035
|
|
NM_000540.3(RYR1):c.14167C>G (p.Arg4723Gly)
|
|
|
NM_000540.3(RYR1):c.14168G>T (p.Arg4723Leu)
|
|
|
NM_000540.3(RYR1):c.14173-3C>A
|
|
|
NM_000540.3(RYR1):c.14173-9C>G
|
|
|
NM_000540.3(RYR1):c.14173G>C (p.Val4725Leu)
|
rs1049117716
|
|
NM_000540.3(RYR1):c.14186A>C (p.His4729Pro)
|
rs1568601643
|
|
NM_000540.3(RYR1):c.14186A>G (p.His4729Arg)
|
|
|
NM_000540.3(RYR1):c.14194A>C (p.Ile4732Leu)
|
|
|
NM_000540.3(RYR1):c.14197T>G (p.Tyr4733Asp)
|
rs193922865
|
|
NM_000540.3(RYR1):c.14200G>A (p.Gly4734Arg)
|
rs1456212776
|
|
NM_000540.3(RYR1):c.14201G>A (p.Gly4734Glu)
|
rs193922866
|
|
NM_000540.3(RYR1):c.1422G>C (p.Gln474His)
|
|
|
NM_000540.3(RYR1):c.1422G>T (p.Gln474His)
|
rs193922767
|
|
NM_000540.3(RYR1):c.14237T>C (p.Leu4746Pro)
|
|
|
NM_000540.3(RYR1):c.14242A>G (p.Thr4748Ala)
|
|
|
NM_000540.3(RYR1):c.14244A>C (p.Thr4748=)
|
rs1599660141
|
|
NM_000540.3(RYR1):c.14248G>A (p.Glu4750Lys)
|
|
|
NM_000540.3(RYR1):c.14249A>T (p.Glu4750Val)
|
rs1002217883
|
|
NM_000540.3(RYR1):c.1424G>A (p.Ser475Asn)
|
|
|
NM_000540.3(RYR1):c.14258C>T (p.Ala4753Val)
|
|
|
NM_000540.3(RYR1):c.1425C>A (p.Ser475Arg)
|
|
|
NM_000540.3(RYR1):c.14264A>G (p.Asn4755Ser)
|
|
|
NM_000540.3(RYR1):c.14266G>A (p.Glu4756Lys)
|
|
|
NM_000540.3(RYR1):c.14269C>T (p.Arg4757Cys)
|
|
|
NM_000540.3(RYR1):c.14271C>T (p.Arg4757=)
|
|
|
NM_000540.3(RYR1):c.14274G>C (p.Lys4758Asn)
|
|
|
NM_000540.3(RYR1):c.14275C>T (p.Pro4759Ser)
|
rs761373177
|
|
NM_000540.3(RYR1):c.14276C>T (p.Pro4759Leu)
|
|
|
NM_000540.3(RYR1):c.14279A>G (p.Asn4760Ser)
|
rs980411516
|
|
NM_000540.3(RYR1):c.14280C>A (p.Asn4760Lys)
|
|
|
NM_000540.3(RYR1):c.14282C>A (p.Pro4761Gln)
|
|
|
NM_000540.3(RYR1):c.14282C>G (p.Pro4761Arg)
|
rs373919284
|
|
NM_000540.3(RYR1):c.14282C>T (p.Pro4761Leu)
|
rs373919284
|
|
NM_000540.3(RYR1):c.14284C>A (p.Pro4762Thr)
|
|
|
NM_000540.3(RYR1):c.14285C>T (p.Pro4762Leu)
|
|
|
NM_000540.3(RYR1):c.14288C>A (p.Pro4763Gln)
|
rs1974035851
|
|
NM_000540.3(RYR1):c.14290G>A (p.Gly4764Arg)
|
|
|
NM_000540.3(RYR1):c.14290G>C (p.Gly4764Arg)
|
|
|
NM_000540.3(RYR1):c.14291G>A (p.Gly4764Glu)
|
rs1974036074
|
|
NM_000540.3(RYR1):c.14302T>G (p.Trp4768Gly)
|
|
|
NM_000540.3(RYR1):c.14304-15C>A
|
|
|
NM_000540.3(RYR1):c.14304-3C>A
|
rs1568602195
|
|
NM_000540.3(RYR1):c.14304-6C>A
|
rs794728693
|
|
NM_000540.3(RYR1):c.14305C>G (p.Leu4769Val)
|
rs755948352
|
|
NM_000540.3(RYR1):c.14305C>T (p.Leu4769Phe)
|
|
|
NM_000540.3(RYR1):c.14307C>T (p.Leu4769=)
|
|
|
NM_000540.3(RYR1):c.14311T>C (p.Ser4771Pro)
|
|
|
NM_000540.3(RYR1):c.14317G>A (p.Asp4773Asn)
|
rs754844157
|
|
NM_000540.3(RYR1):c.14317G>T (p.Asp4773Tyr)
|
|
|
NM_000540.3(RYR1):c.14319T>G (p.Asp4773Glu)
|
|
|
NM_000540.3(RYR1):c.1431C>G (p.Phe477Leu)
|
|
|
NM_000540.3(RYR1):c.14326T>C (p.Tyr4776His)
|
|
|
NM_000540.3(RYR1):c.14335T>C (p.Trp4779Arg)
|
rs1974044905
|
|
NM_000540.3(RYR1):c.14338A>C (p.Lys4780Gln)
|
|
|
NM_000540.3(RYR1):c.14342T>C (p.Phe4781Ser)
|
|
|
NM_000540.3(RYR1):c.14345G>A (p.Gly4782Glu)
|
|
|
NM_000540.3(RYR1):c.14350A>C (p.Ile4784Leu)
|
rs1974045575
|
|
NM_000540.3(RYR1):c.14353T>C (p.Phe4785Leu)
|
|
|
NM_000540.3(RYR1):c.1435del (p.Glu479fs)
|
|
|
NM_000540.3(RYR1):c.14364+1G>A
|
rs1974046221
|
|
NM_000540.3(RYR1):c.14364+1G>T
|
rs1974046221
|
|
NM_000540.3(RYR1):c.14364+5_14364+31dup
|
rs2145889339
|
|
NM_000540.3(RYR1):c.14364C>T (p.Asn4788=)
|
|
|
NM_000540.3(RYR1):c.14365-13T>G
|
|
|
NM_000540.3(RYR1):c.14365-6C>T
|
rs1064797242
|
|
NM_000540.3(RYR1):c.14372T>G (p.Leu4791Arg)
|
|
|
NM_000540.3(RYR1):c.14374T>C (p.Tyr4792His)
|
|
|
NM_000540.3(RYR1):c.14378T>C (p.Leu4793Pro)
|
rs118192179
|
|
NM_000540.3(RYR1):c.14378T>G (p.Leu4793Arg)
|
rs118192179
|
|
NM_000540.3(RYR1):c.14380G>A (p.Gly4794Ser)
|
rs2145894853
|
|
NM_000540.3(RYR1):c.14381G>C (p.Gly4794Ala)
|
|
|
NM_000540.3(RYR1):c.14383T>C (p.Trp4795Arg)
|
|
|
NM_000540.3(RYR1):c.14385G>A (p.Trp4795Ter)
|
rs565173276
|
|
NM_000540.3(RYR1):c.14385G>T (p.Trp4795Cys)
|
|
|
NM_000540.3(RYR1):c.14386T>C (p.Tyr4796His)
|
rs1568604251
|
|
NM_000540.3(RYR1):c.14387A>G (p.Tyr4796Cys)
|
rs118192167
|
|
NM_000540.3(RYR1):c.1438G>A (p.Glu480Lys)
|
rs878854375
|
|
NM_000540.3(RYR1):c.14393T>C (p.Val4798Ala)
|
|
|
NM_000540.3(RYR1):c.14399C>T (p.Ser4800Phe)
|
|
|
NM_000540.3(RYR1):c.1439A>C (p.Glu480Ala)
|
|
|
NM_000540.3(RYR1):c.1439A>T (p.Glu480Val)
|
rs1967163389
|
|
NM_000540.3(RYR1):c.1440+13C>T
|
rs774459267
|
|
NM_000540.3(RYR1):c.1440+1G>T
|
|
|
NM_000540.3(RYR1):c.1440+2T>G
|
rs1555767403
|
|
NM_000540.3(RYR1):c.1440+6G>A
|
|
|
NM_000540.3(RYR1):c.14411A>C (p.His4804Pro)
|
rs1568604308
|
|
NM_000540.3(RYR1):c.14412C>A (p.His4804Gln)
|
|
|
NM_000540.3(RYR1):c.14413T>C (p.Tyr4805His)
|
|
|
NM_000540.3(RYR1):c.14414A>G (p.Tyr4805Cys)
|
rs1248772829
|
|
NM_000540.3(RYR1):c.14416A>G (p.Asn4806Asp)
|
rs886039586
|
|
NM_000540.3(RYR1):c.14416AAC[1] (p.Asn4807del)
|
rs2145895047
|
|
NM_000540.3(RYR1):c.14418C>A (p.Asn4806Lys)
|
rs751271794
|
|
NM_000540.3(RYR1):c.14419A>T (p.Asn4807Tyr)
|
|
|
NM_000540.3(RYR1):c.14419_14420inv (p.Asn4807Phe)
|
|
|
NM_000540.3(RYR1):c.14420A>G (p.Asn4807Ser)
|
|
|
NM_000540.3(RYR1):c.14420A>T (p.Asn4807Ile)
|
|
|
NM_000540.3(RYR1):c.14421CTT[2] (p.Phe4810del)
|
rs1555803810
|
|
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.14424C>G (p.Phe4808Leu)
|
rs780689135
|
|
NM_000540.3(RYR1):c.14426T>C (p.Phe4809Ser)
|
|
|
NM_000540.3(RYR1):c.14432C>T (p.Ala4811Val)
|
|
|
NM_000540.3(RYR1):c.14437C>G (p.His4813Asp)
|
|
|
NM_000540.3(RYR1):c.14446G>C (p.Asp4816His)
|
rs2145895196
|
|
NM_000540.3(RYR1):c.14449A>T (p.Ile4817Phe)
|
rs143988412
|
|
NM_000540.3(RYR1):c.14452G>A (p.Ala4818Thr)
|
|
|
NM_000540.3(RYR1):c.14456T>C (p.Met4819Thr)
|
|
|
NM_000540.3(RYR1):c.14458G>A (p.Gly4820Arg)
|
rs193922873
|
|
NM_000540.3(RYR1):c.14458G>T (p.Gly4820Trp)
|
rs193922873
|
|
NM_000540.3(RYR1):c.14462T>C (p.Val4821Ala)
|
|
|
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.14480T>A (p.Ile4827Asn)
|
rs727504132
|
|
NM_000540.3(RYR1):c.14486C>T (p.Ser4829Phe)
|
rs1268840179
|
|
NM_000540.3(RYR1):c.14488T>A (p.Ser4830Thr)
|
rs1568604535
|
|
NM_000540.3(RYR1):c.14500A>T (p.Asn4834Tyr)
|
|
|
NM_000540.3(RYR1):c.14509C>A (p.Gln4837Lys)
|
rs1568604577
|
|
NM_000540.3(RYR1):c.14509C>G (p.Gln4837Glu)
|
rs1568604577
|
|
NM_000540.3(RYR1):c.14515G>A (p.Val4839Met)
|
|
|
NM_000540.3(RYR1):c.14515G>C (p.Val4839Leu)
|
rs1974145234
|
|
NM_000540.3(RYR1):c.14518A>T (p.Met4840Leu)
|
rs933599635
|
|
NM_000540.3(RYR1):c.14519T>G (p.Met4840Arg)
|
rs1568604966
|
|
NM_000540.3(RYR1):c.14525T>C (p.Val4842Ala)
|
|
|
NM_000540.3(RYR1):c.14528_14536del (p.Gly4843_Leu4845del)
|
rs2145896356
|
|
NM_000540.3(RYR1):c.14531T>C (p.Leu4844Pro)
|
|
|
NM_000540.3(RYR1):c.14533C>A (p.Leu4845Met)
|
rs2145896369
|
|
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.14538G>A (p.Ala4846=)
|
|
|
NM_000540.3(RYR1):c.14538GGT[1] (p.Val4849del)
|
rs1555803920
|
|
NM_000540.3(RYR1):c.14542G>C (p.Val4848Leu)
|
rs2145896441
|
|
NM_000540.3(RYR1):c.14546T>C (p.Val4849Ala)
|
|
|
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.14559C>T (p.Thr4853=)
|
rs570469685
|
|
NM_000540.3(RYR1):c.14561TGG[1] (p.Val4855del)
|
rs1599665089
|
|
NM_000540.3(RYR1):c.14564T>A (p.Val4855Glu)
|
rs1974148419
|
|
NM_000540.3(RYR1):c.14566G>A (p.Ala4856Thr)
|
rs2145896601
|
|
NM_000540.3(RYR1):c.14567C>G (p.Ala4856Gly)
|
rs193922880
|
|
NM_000540.3(RYR1):c.14570T>G (p.Phe4857Cys)
|
|
|
NM_000540.3(RYR1):c.14573A>G (p.Asn4858Ser)
|
rs1555803933
|
|
NM_000540.3(RYR1):c.14580C>G (p.Phe4860Leu)
|
|
|
NM_000540.3(RYR1):c.14581C>A (p.Arg4861Ser)
|
|
|
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.14583C>A (p.Arg4861=)
|
|
|
NM_000540.3(RYR1):c.14585A>G (p.Lys4862Arg)
|
|
|
NM_000540.3(RYR1):c.14587T>C (p.Phe4863Leu)
|
|
|
NM_000540.3(RYR1):c.14587T>G (p.Phe4863Val)
|
rs2145896745
|
|
NM_000540.3(RYR1):c.14589C>G (p.Phe4863Leu)
|
|
|
NM_000540.3(RYR1):c.14590_14592del (p.Tyr4864del)
|
rs1974150661
|
|
NM_000540.3(RYR1):c.14592CAA[1] (p.Asn4865del)
|
rs2145896801
|
|
NM_000540.3(RYR1):c.14593A>G (p.Asn4865Asp)
|
|
|
NM_000540.3(RYR1):c.14594A>G (p.Asn4865Ser)
|
|
|
NM_000540.3(RYR1):c.14598G>C (p.Lys4866Asn)
|
rs1568605238
|
|
NM_000540.3(RYR1):c.14599A>G (p.Ser4867Gly)
|
|
|
NM_000540.3(RYR1):c.14600G>A (p.Ser4867Asn)
|
rs587784373
|
|
NM_000540.3(RYR1):c.14609A>C (p.Glu4870Ala)
|
|
|
NM_000540.3(RYR1):c.14616_14621dup (p.Glu4872_Pro4873dup)
|
rs1555804000
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NM_000540.3(RYR1):c.14623A>C (p.Met4875Leu)
|
rs1974153045
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NM_000540.3(RYR1):c.14624T>A (p.Met4875Lys)
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NM_000540.3(RYR1):c.14624T>C (p.Met4875Thr)
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NM_000540.3(RYR1):c.14625G>T (p.Met4875Ile)
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NM_000540.3(RYR1):c.14626A>G (p.Lys4876Glu)
|
rs1568605325
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NM_000540.3(RYR1):c.14628G>C (p.Lys4876Asn)
|
rs1395234830
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NM_000540.3(RYR1):c.14630G>A (p.Cys4877Tyr)
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NM_000540.3(RYR1):c.14630_14637del (p.Cys4877fs)
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NM_000540.3(RYR1):c.14632G>A (p.Asp4878Asn)
|
rs1443223174
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NM_000540.3(RYR1):c.14637C>G (p.Asp4879Glu)
|
rs1599665324
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NM_000540.3(RYR1):c.14639T>A (p.Met4880Lys)
|
rs193922883
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NM_000540.3(RYR1):c.14639T>C (p.Met4880Thr)
|
rs193922883
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NM_000540.3(RYR1):c.14641A>T (p.Met4881Leu)
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NM_000540.3(RYR1):c.14642T>C (p.Met4881Thr)
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rs1568605367
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NM_000540.3(RYR1):c.14643G>A (p.Met4881Ile)
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NM_000540.3(RYR1):c.14643G>T (p.Met4881Ile)
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rs376677576
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NM_000540.3(RYR1):c.14646+3G>A
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NM_000540.3(RYR1):c.14646G>A (p.Thr4882=)
|
rs536148030
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NM_000540.3(RYR1):c.14647-3C>G
|
rs1974401494
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NM_000540.3(RYR1):c.14647-3C>T
|
rs1974401494
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NM_000540.3(RYR1):c.14647-3_14647del
|
rs1568611362
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NM_000540.3(RYR1):c.14647T>A (p.Cys4883Ser)
|
rs1568611375
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NM_000540.3(RYR1):c.14660A>T (p.His4887Leu)
|
rs1568611398
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NM_000540.3(RYR1):c.14662A>G (p.Met4888Val)
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NM_000540.3(RYR1):c.14668G>A (p.Val4890Met)
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NM_000540.3(RYR1):c.14672G>A (p.Gly4891Asp)
|
rs398123470
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NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp)
|
rs118192150
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NM_000540.3(RYR1):c.14678G>A (p.Arg4893Gln)
|
rs118192151
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NM_000540.3(RYR1):c.14680G>A (p.Ala4894Thr)
|
rs193922888
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NM_000540.3(RYR1):c.14680G>C (p.Ala4894Pro)
|
rs193922888
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NM_000540.3(RYR1):c.14681C>A (p.Ala4894Asp)
|
rs193922890
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NM_000540.3(RYR1):c.14686G>A (p.Gly4896Arg)
|
rs1568611478
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NM_000540.3(RYR1):c.14687G>A (p.Gly4896Glu)
|
rs1599674197
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NM_000540.3(RYR1):c.14690G>A (p.Gly4897Asp)
|
rs118192148
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NM_000540.3(RYR1):c.14693T>A (p.Ile4898Asn)
|
rs118192170
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NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr)
|
rs118192170
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NM_000540.3(RYR1):c.14693T>G (p.Ile4898Ser)
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NM_000540.3(RYR1):c.14699A>G (p.Asp4900Gly)
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NM_000540.3(RYR1):c.14702_14716dup (p.Pro4905_Ala4906insGluIleGluAspPro)
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NM_000540.3(RYR1):c.14705T>A (p.Ile4902Asn)
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NM_000540.3(RYR1):c.14705T>C (p.Ile4902Thr)
|
rs1555805287
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NM_000540.3(RYR1):c.14707G>A (p.Glu4903Lys)
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NM_000540.3(RYR1):c.14709G>C (p.Glu4903Asp)
|
rs557624321
|
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NM_000540.3(RYR1):c.14711A>G (p.Asp4904Gly)
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NM_000540.3(RYR1):c.14712C>A (p.Asp4904Glu)
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NM_000540.3(RYR1):c.14713C>A (p.Pro4905Thr)
|
rs1057518924
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NM_000540.3(RYR1):c.14713C>T (p.Pro4905Ser)
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NM_000540.3(RYR1):c.14714C>G (p.Pro4905Arg)
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NM_000540.3(RYR1):c.14716G>A (p.Ala4906Thr)
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NM_000540.3(RYR1):c.14717C>T (p.Ala4906Val)
|
rs118192153
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NM_000540.3(RYR1):c.14725G>A (p.Glu4909Lys)
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NM_000540.3(RYR1):c.14731G>A (p.Glu4911Lys)
|
rs886044196
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NM_000540.3(RYR1):c.14735T>C (p.Leu4912Pro)
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NM_000540.3(RYR1):c.14737T>A (p.Tyr4913Asn)
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NM_000540.3(RYR1):c.14749T>A (p.Phe4917Ile)
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NM_000540.3(RYR1):c.14749T>C (p.Phe4917Leu)
|
rs1599674419
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NM_000540.3(RYR1):c.14749_14751del (p.Phe4917del)
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NM_000540.3(RYR1):c.14751C>A (p.Phe4917Leu)
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NM_000540.3(RYR1):c.14758_14778dup (p.Ile4926_Val4927insThrPhePhePhePheValIle)
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NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del)
|
rs1064794572
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NM_000540.3(RYR1):c.14761TTC[5] (p.Phe4924dup)
|
rs1064794572
|
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NM_000540.3(RYR1):c.14761TTC[6] (p.Phe4924_Val4925insPhePhe)
|
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NM_000540.3(RYR1):c.14763C>G (p.Phe4921Leu)
|
rs1974410266
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NM_000540.3(RYR1):c.14766C>A (p.Phe4922Leu)
|
rs1599674487
|
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NM_000540.3(RYR1):c.14766C>G (p.Phe4922Leu)
|
rs1599674487
|
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NM_000540.3(RYR1):c.14773G>A (p.Val4925Ile)
|
rs959737076
|
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NM_000540.3(RYR1):c.14776_14778del (p.Ile4926del)
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NM_000540.3(RYR1):c.14779G>A (p.Val4927Ile)
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NM_000540.3(RYR1):c.14783T>A (p.Ile4928Asn)
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NM_000540.3(RYR1):c.14789T>C (p.Leu4930Ser)
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NM_000540.3(RYR1):c.14792C>A (p.Ala4931Asp)
|
rs546322293
|
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NM_000540.3(RYR1):c.14801A>G (p.Gln4934Arg)
|
rs1568611775
|
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NM_000540.3(RYR1):c.14802G>C (p.Gln4934His)
|
rs1555805334
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NM_000540.3(RYR1):c.14803+3C>A
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NM_000540.3(RYR1):c.14803+4A>C
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NM_000540.3(RYR1):c.14803+5G>C
|
rs1599674587
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NM_000540.3(RYR1):c.14804-1G>T
|
rs193922894
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NM_000540.3(RYR1):c.14804-2A>G
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NM_000540.3(RYR1):c.14804-6C>T
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NM_000540.3(RYR1):c.14809A>G (p.Ile4937Val)
|
rs2145917369
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NM_000540.3(RYR1):c.14812A>G (p.Ile4938Val)
|
rs1599676533
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NM_000540.3(RYR1):c.14813T>C (p.Ile4938Thr)
|
rs111657878
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NM_000540.3(RYR1):c.14814C>G (p.Ile4938Met)
|
rs118192159
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NM_000540.3(RYR1):c.14815G>A (p.Asp4939Asn)
|
rs760010175
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NM_000540.3(RYR1):c.14817C>A (p.Asp4939Glu)
|
rs193922895
|
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NM_000540.3(RYR1):c.14817C>G (p.Asp4939Glu)
|
rs193922895
|
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NM_000540.3(RYR1):c.14819C>T (p.Ala4940Val)
|
rs1568613107
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NM_000540.3(RYR1):c.14825G>T (p.Gly4942Val)
|
rs193922896
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NM_000540.3(RYR1):c.14834G>A (p.Arg4945Gln)
|
rs2145917486
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NM_000540.3(RYR1):c.14836G>A (p.Asp4946Asn)
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NM_000540.3(RYR1):c.14842C>T (p.Gln4948Ter)
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NM_000540.3(RYR1):c.14843A>G (p.Gln4948Arg)
|
rs1974467952
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NM_000540.3(RYR1):c.14852T>G (p.Val4951Gly)
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NM_000540.3(RYR1):c.14860G>A (p.Asp4954Asn)
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NM_000540.3(RYR1):c.14868+5del
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NM_000540.3(RYR1):c.14869-14C>G
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NM_000540.3(RYR1):c.14879T>A (p.Phe4960Tyr)
|
rs193922898
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NM_000540.3(RYR1):c.14892C>A (p.Ile4964=)
|
rs2302297
|
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NM_000540.3(RYR1):c.14893G>A (p.Gly4965Ser)
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NM_000540.3(RYR1):c.14902T>C (p.Tyr4968His)
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NM_000540.3(RYR1):c.14905T>C (p.Phe4969Leu)
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NM_000540.3(RYR1):c.14911A>G (p.Thr4971Ala)
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NM_000540.3(RYR1):c.14920C>T (p.His4974Tyr)
|
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NM_000540.3(RYR1):c.14929G>C (p.Glu4977Gln)
|
rs200777598
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NM_000540.3(RYR1):c.14935C>T (p.His4979Tyr)
|
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NM_000540.3(RYR1):c.14954A>G (p.Asn4985Ser)
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NM_000540.3(RYR1):c.14962A>G (p.Asn4988Asp)
|
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NM_000540.3(RYR1):c.14963A>G (p.Asn4988Ser)
|
rs2145918298
|
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NM_000540.3(RYR1):c.14968A>G (p.Met4990Val)
|
rs2145918316
|
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NM_000540.3(RYR1):c.14969+3G>A
|
|
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NM_000540.3(RYR1):c.14970G>T (p.Met4990Ile)
|
rs2145919457
|
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NM_000540.3(RYR1):c.14981T>C (p.Met4994Thr)
|
rs886054412
|
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NM_000540.3(RYR1):c.14989A>G (p.Ile4997Val)
|
rs2145919519
|
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NM_000540.3(RYR1):c.15005C>T (p.Thr5002Ile)
|
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NM_000540.3(RYR1):c.15014C>G (p.Thr5005Arg)
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NM_000540.3(RYR1):c.15017G>A (p.Gly5006Asp)
|
rs1555805797
|
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NM_000540.3(RYR1):c.15017G>C (p.Gly5006Ala)
|
rs1555805797
|
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NM_000540.3(RYR1):c.15020A>G (p.Gln5007Arg)
|
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NM_000540.3(RYR1):c.15021+2T>A
|
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NM_000540.3(RYR1):c.15021+2T>G
|
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NM_000540.3(RYR1):c.15021+6G>A
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NM_000540.3(RYR1):c.15022-7A>G
|
rs1281576269
|
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NM_000540.3(RYR1):c.15026C>T (p.Ser5009Phe)
|
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NM_000540.3(RYR1):c.15030T>A (p.Tyr5010Ter)
|
rs1064797243
|
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NM_000540.3(RYR1):c.15030del (p.Ser5009_Tyr5010insTer)
|
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NM_000540.3(RYR1):c.15031G>A (p.Val5011Ile)
|
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NM_000540.3(RYR1):c.15034T>A (p.Trp5012Arg)
|
rs1974542909
|
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NM_000540.3(RYR1):c.15035G>A (p.Trp5012Ter)
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NM_000540.3(RYR1):c.15036G>T (p.Trp5012Cys)
|
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NM_000540.3(RYR1):c.15041T>G (p.Met5014Arg)
|
rs2145921970
|
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NM_000540.3(RYR1):c.15046C>G (p.Gln5016Glu)
|
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NM_000540.3(RYR1):c.15047A>G (p.Gln5016Arg)
|
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NM_000540.3(RYR1):c.15056G>A (p.Cys5019Tyr)
|
rs2145922036
|
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NM_000540.3(RYR1):c.15056G>T (p.Cys5019Phe)
|
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NM_000540.3(RYR1):c.15056_15061del (p.Cys5019_Asp5021delinsTyr)
|
rs1974544557
|
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NM_000540.3(RYR1):c.15059G>C (p.Trp5020Ser)
|
rs2145922063
|
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NM_000540.3(RYR1):c.15060G>C (p.Trp5020Cys)
|
rs2145922066
|
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NM_000540.3(RYR1):c.15060G>T (p.Trp5020Cys)
|
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|
NM_000540.3(RYR1):c.15073G>A (p.Ala5025Thr)
|
rs1057519258
|
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NM_000540.3(RYR1):c.15074C>G (p.Ala5025Gly)
|
rs2145922134
|
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NM_000540.3(RYR1):c.15077G>A (p.Gly5026Asp)
|
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NM_000540.3(RYR1):c.15077_15079del (p.Gly5026del)
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NM_000540.3(RYR1):c.15089G>T (p.Arg5030Leu)
|
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NM_000540.3(RYR1):c.15098A>G (p.Tyr5033Cys)
|
rs201765762
|
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NM_000540.3(RYR1):c.15099T>G (p.Tyr5033Ter)
|
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NM_000540.3(RYR1):c.15109C>G (p.Leu5037Val)
|
rs140584202
|
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NM_000540.3(RYR1):c.15109C>T (p.Leu5037Phe)
|
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NM_000540.3(RYR1):c.15115T>A (p.Ter5039Arg)
|
rs1555806206
|
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NM_000540.3(RYR1):c.15117AC[2] (p.Ter5039=)
|
rs773663760
|
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NM_000540.3(RYR1):c.152C>T (p.Thr51Ile)
|
|
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NM_000540.3(RYR1):c.156C>G (p.Ser52Arg)
|
rs2145321042
|
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NM_000540.3(RYR1):c.1576+5G>A
|
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NM_000540.3(RYR1):c.1577-5C>A
|
rs778100574
|
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NM_000540.3(RYR1):c.1582C>A (p.Leu528Ile)
|
rs2145394521
|
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NM_000540.3(RYR1):c.1584A>G (p.Leu528=)
|
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|
NM_000540.3(RYR1):c.1588C>T (p.Arg530Cys)
|
rs757399861
|
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NM_000540.3(RYR1):c.1589G>T (p.Arg530Leu)
|
rs111888148
|
|
NM_000540.3(RYR1):c.1597C>A (p.Arg533Ser)
|
rs193922768
|
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NM_000540.3(RYR1):c.1598G>T (p.Arg533Leu)
|
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NM_000540.3(RYR1):c.159C>A (p.Asn53Lys)
|
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NM_000540.3(RYR1):c.159C>G (p.Asn53Lys)
|
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NM_000540.3(RYR1):c.1600A>G (p.Ser534Gly)
|
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NM_000540.3(RYR1):c.1604A>G (p.Asn535Ser)
|
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NM_000540.3(RYR1):c.1605C>A (p.Asn535Lys)
|
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NM_000540.3(RYR1):c.1609G>A (p.Ala537Thr)
|
rs774229699
|
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NM_000540.3(RYR1):c.1610C>T (p.Ala537Val)
|
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NM_000540.3(RYR1):c.1613T>A (p.Leu538His)
|
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NM_000540.3(RYR1):c.1619C>G (p.Ser540Cys)
|
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NM_000540.3(RYR1):c.161C>A (p.Ala54Glu)
|
rs1032364286
|
|
NM_000540.3(RYR1):c.161C>T (p.Ala54Val)
|
rs1032364286
|
|
NM_000540.3(RYR1):c.1622C>G (p.Thr541Arg)
|
rs1600675641
|
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NM_000540.3(RYR1):c.1627T>G (p.Leu543Val)
|
rs946863283
|
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NM_000540.3(RYR1):c.1631A>G (p.Asp544Gly)
|
|
|
NM_000540.3(RYR1):c.1632C>G (p.Asp544Glu)
|
rs1568448011
|
|
NM_000540.3(RYR1):c.1633T>A (p.Trp545Arg)
|
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|
NM_000540.3(RYR1):c.163C>A (p.Gln55Lys)
|
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NM_000540.3(RYR1):c.1640T>C (p.Val547Ala)
|
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NM_000540.3(RYR1):c.1643G>A (p.Ser548Asn)
|
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NM_000540.3(RYR1):c.1645A>G (p.Lys549Glu)
|
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|
NM_000540.3(RYR1):c.165+1G>A
|
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NM_000540.3(RYR1):c.165+1G>T
|
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|
NM_000540.3(RYR1):c.165+5G>T
|
rs371043203
|
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NM_000540.3(RYR1):c.1657C>A (p.Leu553Met)
|
|
|
NM_000540.3(RYR1):c.166-3dup
|
rs745926203
|
|
NM_000540.3(RYR1):c.1662G>T (p.Glu554Asp)
|
rs1967327642
|
|
NM_000540.3(RYR1):c.1663G>A (p.Ala555Thr)
|
rs1225397962
|
|
NM_000540.3(RYR1):c.1663G>T (p.Ala555Ser)
|
|
|
NM_000540.3(RYR1):c.1664C>A (p.Ala555Asp)
|
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|
NM_000540.3(RYR1):c.1667C>T (p.Ser556Leu)
|
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|
NM_000540.3(RYR1):c.1667_1668delinsTA (p.Ser556Leu)
|
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|
NM_000540.3(RYR1):c.1667_1668insATCT (p.Gly558fs)
|
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NM_000540.3(RYR1):c.1668_1669delinsAA (p.Ser557Thr)
|
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|
NM_000540.3(RYR1):c.1668_1669insGTAGGAGAACCCGGGTGGCTGGTCAGCAAGCTGGATCGGCTGGAGGCCTCA (p.Ser556_Ser557insValGlyGluProGlyTrpLeuValSerLysLeuAspArgLeuGluAlaSer)
|
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|
NM_000540.3(RYR1):c.1669T>A (p.Ser557Thr)
|
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|
NM_000540.3(RYR1):c.1672+5G>A
|
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|
NM_000540.3(RYR1):c.1673-3C>T
|
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|
NM_000540.3(RYR1):c.1673-5G>A
|
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|
NM_000540.3(RYR1):c.1677C>G (p.Ile559Met)
|
|
|
NM_000540.3(RYR1):c.168T>C (p.Asn56=)
|
|
|
NM_000540.3(RYR1):c.1691A>T (p.Tyr564Phe)
|
|
|
NM_000540.3(RYR1):c.1702A>G (p.Ile568Val)
|
rs1967336522
|
|
NM_000540.3(RYR1):c.1703T>C (p.Ile568Thr)
|
|
|
NM_000540.3(RYR1):c.1706A>G (p.Glu569Gly)
|
|
|
NM_000540.3(RYR1):c.1717G>A (p.Val573Ile)
|
|
|
NM_000540.3(RYR1):c.1718T>C (p.Val573Ala)
|
rs1600676317
|
|
NM_000540.3(RYR1):c.1720C>G (p.Leu574Val)
|
rs1307522343
|
|
NM_000540.3(RYR1):c.1729A>C (p.Ile577Leu)
|
|
|
NM_000540.3(RYR1):c.1744A>G (p.Ile582Val)
|
rs1131691591
|
|
NM_000540.3(RYR1):c.1750T>C (p.Ser584Pro)
|
|
|
NM_000540.3(RYR1):c.1753A>C (p.Ile585Leu)
|
|
|
NM_000540.3(RYR1):c.1753A>G (p.Ile585Val)
|
rs200770015
|
|
NM_000540.3(RYR1):c.1756A>G (p.Ile586Val)
|
|
|
NM_000540.3(RYR1):c.175C>T (p.Pro59Ser)
|
rs1555762521
|
|
NM_000540.3(RYR1):c.1762C>T (p.Leu588Phe)
|
|
|
NM_000540.3(RYR1):c.1767G>A (p.Leu589=)
|
|
|
NM_000540.3(RYR1):c.1769A>G (p.Asp590Gly)
|
|
|
NM_000540.3(RYR1):c.1774C>G (p.His592Asp)
|
|
|
NM_000540.3(RYR1):c.1778G>A (p.Gly593Glu)
|
rs1568448285
|
|
NM_000540.3(RYR1):c.1781G>A (p.Arg594Lys)
|
|
|
NM_000540.3(RYR1):c.1787A>G (p.His596Arg)
|
|
|
NM_000540.3(RYR1):c.1788C>T (p.His596=)
|
|
|
NM_000540.3(RYR1):c.1789A>G (p.Lys597Glu)
|
|
|
NM_000540.3(RYR1):c.178G>C (p.Asp60His)
|
rs118192160
|
|
NM_000540.3(RYR1):c.178G>T (p.Asp60Tyr)
|
rs118192160
|
|
NM_000540.3(RYR1):c.1790A>G (p.Lys597Arg)
|
|
|
NM_000540.3(RYR1):c.1791+5G>A
|
|
|
NM_000540.3(RYR1):c.1796T>C (p.Leu599Pro)
|
|
|
NM_000540.3(RYR1):c.1798G>T (p.Asp600Tyr)
|
|
|
NM_000540.3(RYR1):c.1801G>C (p.Val601Leu)
|
|
|
NM_000540.3(RYR1):c.1801G>T (p.Val601Leu)
|
|
|
NM_000540.3(RYR1):c.1807T>C (p.Cys603Arg)
|
|
|
NM_000540.3(RYR1):c.1808G>A (p.Cys603Tyr)
|
rs886054380
|
|
NM_000540.3(RYR1):c.1808_1823del (p.Cys603fs)
|
rs869312738
|
|
NM_000540.3(RYR1):c.1810T>C (p.Ser604Pro)
|
rs901536375
|
|
NM_000540.3(RYR1):c.1811C>T (p.Ser604Phe)
|
|
|
NM_000540.3(RYR1):c.1813C>G (p.Leu605Val)
|
|
|
NM_000540.3(RYR1):c.1814T>C (p.Leu605Pro)
|
|
|
NM_000540.3(RYR1):c.1819G>A (p.Val607Met)
|
rs1568450391
|
|
NM_000540.3(RYR1):c.1825A>G (p.Asn609Asp)
|
rs1131691719
|
|
NM_000540.3(RYR1):c.1828G>A (p.Gly610Ser)
|
|
|
NM_000540.3(RYR1):c.1828G>T (p.Gly610Cys)
|
|
|
NM_000540.3(RYR1):c.1829G>A (p.Gly610Asp)
|
|
|
NM_000540.3(RYR1):c.1834G>C (p.Ala612Pro)
|
rs118204423
|
|
NM_000540.3(RYR1):c.1837G>A (p.Val613Ile)
|
|
|
NM_000540.3(RYR1):c.1837G>C (p.Val613Leu)
|
|
|
NM_000540.3(RYR1):c.1843T>C (p.Ser615Pro)
|
|
|
NM_000540.3(RYR1):c.1848C>A (p.Asn616Lys)
|
rs1380871200
|
|
NM_000540.3(RYR1):c.1853A>G (p.Asp618Gly)
|
|
|
NM_000540.3(RYR1):c.1855C>G (p.Leu619Val)
|
rs1057519184
|
|
NM_000540.3(RYR1):c.1858A>T (p.Ile620Phe)
|
rs1568450508
|
|
NM_000540.3(RYR1):c.1859T>A (p.Ile620Asn)
|
|
|
NM_000540.3(RYR1):c.1859T>C (p.Ile620Thr)
|
rs1568450514
|
|
NM_000540.3(RYR1):c.1859T>G (p.Ile620Ser)
|
rs1568450514
|
|
NM_000540.3(RYR1):c.1861A>G (p.Thr621Ala)
|
rs794728694
|
|
NM_000540.3(RYR1):c.1861A>T (p.Thr621Ser)
|
|
|
NM_000540.3(RYR1):c.186_195del (p.Ile63fs)
|
|
|
NM_000540.3(RYR1):c.1874T>C (p.Leu625Pro)
|
rs1555769513
|
|
NM_000540.3(RYR1):c.1877C>G (p.Pro626Arg)
|
|
|
NM_000540.3(RYR1):c.1888C>G (p.Leu630Val)
|
rs2145406736
|
|
NM_000540.3(RYR1):c.1895T>A (p.Leu632Gln)
|
rs1261145893
|
|
NM_000540.3(RYR1):c.1895T>C (p.Leu632Pro)
|
|
|
NM_000540.3(RYR1):c.1897C>A (p.Gln633Lys)
|
|
|
NM_000540.3(RYR1):c.1900A>G (p.Thr634Ala)
|
|
|
NM_000540.3(RYR1):c.1903A>T (p.Asn635Tyr)
|
rs748746838
|
|
NM_000540.3(RYR1):c.190T>C (p.Cys64Arg)
|
rs995399438
|
|
NM_000540.3(RYR1):c.1918G>A (p.Val640Ile)
|
|
|
NM_000540.3(RYR1):c.1925+1G>C
|
rs1967488222
|
|
NM_000540.3(RYR1):c.1925+6G>A
|
|
|
NM_000540.3(RYR1):c.1925G>C (p.Ser642Thr)
|
|
|
NM_000540.3(RYR1):c.1927A>T (p.Ile643Phe)
|
|
|
NM_000540.3(RYR1):c.192T>G (p.Cys64Trp)
|
|
|
NM_000540.3(RYR1):c.1930C>T (p.Arg644Cys)
|
|
|
NM_000540.3(RYR1):c.1931G>T (p.Arg644Leu)
|
|
|
NM_000540.3(RYR1):c.1936A>C (p.Asn646His)
|
rs1064796780
|
|
NM_000540.3(RYR1):c.1937A>G (p.Asn646Ser)
|
rs1316726339
|
|
NM_000540.3(RYR1):c.1958A>G (p.Glu653Gly)
|
|
|
NM_000540.3(RYR1):c.1964C>A (p.Thr655Asn)
|
|
|
NM_000540.3(RYR1):c.1967C>A (p.Thr656Lys)
|
|
|
NM_000540.3(RYR1):c.1971G>C (p.Gln657His)
|
|
|
NM_000540.3(RYR1):c.1983G>T (p.Trp661Cys)
|
rs1305971341
|
|
NM_000540.3(RYR1):c.1993G>A (p.Val665Met)
|
|
|
NM_000540.3(RYR1):c.1993G>T (p.Val665Leu)
|
rs2145408589
|
|
NM_000540.3(RYR1):c.1994T>C (p.Val665Ala)
|
|
|
NM_000540.3(RYR1):c.1998G>A (p.Met666Ile)
|
rs1555769826
|
|
NM_000540.3(RYR1):c.1999G>T (p.Val667Leu)
|
|
|
NM_000540.3(RYR1):c.199G>C (p.Val67Leu)
|
|
|
NM_000540.3(RYR1):c.199G>T (p.Val67Phe)
|
|
|
NM_000540.3(RYR1):c.2004C>A (p.Asp668Glu)
|
rs78835441
|
|
NM_000540.3(RYR1):c.2005G>A (p.Glu669Lys)
|
|
|
NM_000540.3(RYR1):c.2005G>C (p.Glu669Gln)
|
|
|
NM_000540.3(RYR1):c.2006A>G (p.Glu669Gly)
|
|
|
NM_000540.3(RYR1):c.2008G>T (p.Val670Leu)
|
rs1199495792
|
|
NM_000540.3(RYR1):c.2010G>A (p.Val670=)
|
|
|
NM_000540.3(RYR1):c.2026G>C (p.Ala676Pro)
|
rs1555769850
|
|
NM_000540.3(RYR1):c.2029C>G (p.Gln677Glu)
|
|
|
NM_000540.3(RYR1):c.2032G>A (p.Ala678Thr)
|
|
|
NM_000540.3(RYR1):c.2038C>T (p.His680Tyr)
|
|
|
NM_000540.3(RYR1):c.2044C>T (p.Arg682Trp)
|
rs776252106
|
|
NM_000540.3(RYR1):c.2049G>T (p.Val683=)
|
rs1967521130
|
|
NM_000540.3(RYR1):c.2050G>C (p.Gly684Arg)
|
rs747177274
|
|
NM_000540.3(RYR1):c.2056G>T (p.Ala686Ser)
|
|
|
NM_000540.3(RYR1):c.2069G>A (p.Gly690Asp)
|
|
|
NM_000540.3(RYR1):c.2074A>T (p.Thr692Ser)
|
|
|
NM_000540.3(RYR1):c.2075C>A (p.Thr692Asn)
|
|
|
NM_000540.3(RYR1):c.2075C>T (p.Thr692Ile)
|
rs869312735
|
|
NM_000540.3(RYR1):c.2084C>T (p.Pro695Leu)
|
|
|
NM_000540.3(RYR1):c.2087G>T (p.Gly696Val)
|
|
|
NM_000540.3(RYR1):c.2089G>A (p.Ala697Thr)
|
|
|
NM_000540.3(RYR1):c.208C>T (p.Gln70Ter)
|
rs1456276440
|
|
NM_000540.3(RYR1):c.2103G>C (p.Trp701Cys)
|
rs1600684994
|
|
NM_000540.3(RYR1):c.2110A>G (p.Asn704Asp)
|
rs2145409296
|
|
NM_000540.3(RYR1):c.2111A>G (p.Asn704Ser)
|
|
|
NM_000540.3(RYR1):c.2121C>T (p.Gly707=)
|
|
|
NM_000540.3(RYR1):c.212C>A (p.Ser71Tyr)
|
rs118192113
|
|
NM_000540.3(RYR1):c.2135C>A (p.Ser712Tyr)
|
rs1555769917
|
|
NM_000540.3(RYR1):c.2138A>G (p.Tyr713Cys)
|
|
|
NM_000540.3(RYR1):c.2140G>A (p.Gly714Ser)
|
|
|
NM_000540.3(RYR1):c.2155C>T (p.His719Tyr)
|
|
|
NM_000540.3(RYR1):c.2156A>G (p.His719Arg)
|
|
|
NM_000540.3(RYR1):c.215T>G (p.Leu72Arg)
|
|
|
NM_000540.3(RYR1):c.2164A>G (p.Thr722Ala)
|
rs1183569355
|
|
NM_000540.3(RYR1):c.2168-14G>A
|
|
|
NM_000540.3(RYR1):c.2168-3dup
|
rs1555770306
|
|
NM_000540.3(RYR1):c.2172C>G (p.His724Gln)
|
|
|
NM_000540.3(RYR1):c.2180G>A (p.Arg727His)
|
|
|
NM_000540.3(RYR1):c.2186T>C (p.Val729Ala)
|
|
|
NM_000540.3(RYR1):c.2191T>C (p.Ser731Pro)
|
|
|
NM_000540.3(RYR1):c.2195C>T (p.Pro732Leu)
|
|
|
NM_000540.3(RYR1):c.2195del (p.Pro732fs)
|
rs1568452917
|
|
NM_000540.3(RYR1):c.2198G>C (p.Gly733Ala)
|
|
|
NM_000540.3(RYR1):c.2212G>A (p.Ala738Thr)
|
|
|
NM_000540.3(RYR1):c.2216C>G (p.Pro739Arg)
|
|
|
NM_000540.3(RYR1):c.2216C>T (p.Pro739Leu)
|
|
|
NM_000540.3(RYR1):c.2224G>A (p.Val742Met)
|
rs1364240080
|
|
NM_000540.3(RYR1):c.2232C>A (p.Ser744Arg)
|
|
|
NM_000540.3(RYR1):c.2237G>T (p.Cys746Phe)
|
|
|
NM_000540.3(RYR1):c.2242G>A (p.Asp748Asn)
|
|
|
NM_000540.3(RYR1):c.2242G>T (p.Asp748Tyr)
|
|
|
NM_000540.3(RYR1):c.2260A>G (p.Ile754Val)
|
rs780322180
|
|
NM_000540.3(RYR1):c.2270G>A (p.Arg757His)
|
|
|
NM_000540.3(RYR1):c.2272A>G (p.Ile758Val)
|
|
|
NM_000540.3(RYR1):c.2287G>A (p.Val763Met)
|
rs369947687
|
|
NM_000540.3(RYR1):c.2287G>T (p.Val763Leu)
|
rs369947687
|
|
NM_000540.3(RYR1):c.2291A>G (p.Gln764Arg)
|
|
|
NM_000540.3(RYR1):c.2293G>A (p.Gly765Ser)
|
|
|
NM_000540.3(RYR1):c.2312A>C (p.Asn771Thr)
|
|
|
NM_000540.3(RYR1):c.2315T>C (p.Leu772Pro)
|
rs1245178073
|
|
NM_000540.3(RYR1):c.2320G>T (p.Gly774Trp)
|
|
|
NM_000540.3(RYR1):c.2331C>G (p.Phe777Leu)
|
rs1210759640
|
|
NM_000540.3(RYR1):c.2335G>A (p.Val779Ile)
|
|
|
NM_000540.3(RYR1):c.233A>G (p.Gln78Arg)
|
|
|
NM_000540.3(RYR1):c.2345_2347del (p.Phe782del)
|
|
|
NM_000540.3(RYR1):c.2348C>T (p.Ser783Leu)
|
rs1444347791
|
|
NM_000540.3(RYR1):c.2362G>T (p.Val788Leu)
|
rs1967661422
|
|
NM_000540.3(RYR1):c.236A>T (p.Glu79Val)
|
|
|
NM_000540.3(RYR1):c.2370_2387del (p.Leu791_His796del)
|
rs2145417895
|
|
NM_000540.3(RYR1):c.2371C>T (p.Leu791Phe)
|
rs1001953442
|
|
NM_000540.3(RYR1):c.2374C>T (p.Leu792Phe)
|
|
|
NM_000540.3(RYR1):c.2375T>C (p.Leu792Pro)
|
|
|
NM_000540.3(RYR1):c.237G>C (p.Glu79Asp)
|
|
|
NM_000540.3(RYR1):c.2381G>A (p.Gly794Asp)
|
|
|
NM_000540.3(RYR1):c.2384G>A (p.Arg795His)
|
rs201635585
|
|
NM_000540.3(RYR1):c.238A>T (p.Met80Leu)
|
|
|
NM_000540.3(RYR1):c.2399A>G (p.Lys800Arg)
|
|
|
NM_000540.3(RYR1):c.2411C>T (p.Pro804Leu)
|
rs1057524519
|
|
NM_000540.3(RYR1):c.2416G>T (p.Gly806Cys)
|
rs772647350
|
|
NM_000540.3(RYR1):c.2420A>G (p.Tyr807Cys)
|
rs1967666805
|
|
NM_000540.3(RYR1):c.2422G>A (p.Ala808Thr)
|
|
|
NM_000540.3(RYR1):c.2423C>A (p.Ala808Asp)
|
|
|
NM_000540.3(RYR1):c.2428T>A (p.Cys810Ser)
|
|
|
NM_000540.3(RYR1):c.2428T>C (p.Cys810Arg)
|
|
|
NM_000540.3(RYR1):c.242T>A (p.Leu81Gln)
|
|
|
NM_000540.3(RYR1):c.2432A>T (p.His811Leu)
|
|
|
NM_000540.3(RYR1):c.2434G>A (p.Glu812Lys)
|
|
|
NM_000540.3(RYR1):c.2435A>T (p.Glu812Val)
|
|
|
NM_000540.3(RYR1):c.2440G>T (p.Val814Leu)
|
rs1017739421
|
|
NM_000540.3(RYR1):c.2449C>G (p.Arg817Gly)
|
rs150633775
|
|
NM_000540.3(RYR1):c.2452G>A (p.Glu818Lys)
|
|
|
NM_000540.3(RYR1):c.2474T>C (p.Ile825Thr)
|
|
|
NM_000540.3(RYR1):c.2475C>G (p.Ile825Met)
|
|
|
NM_000540.3(RYR1):c.2479G>A (p.Glu827Lys)
|
|
|
NM_000540.3(RYR1):c.2485C>T (p.Arg829Ter)
|
rs778320565
|
|
NM_000540.3(RYR1):c.2485_2486insCC (p.Arg829fs)
|
|
|
NM_000540.3(RYR1):c.2486G>T (p.Arg829Leu)
|
|
|
NM_000540.3(RYR1):c.2491G>A (p.Glu831Lys)
|
rs981293403
|
|
NM_000540.3(RYR1):c.2495G>A (p.Gly832Glu)
|
rs2145418857
|
|
NM_000540.3(RYR1):c.24C>A (p.Asp8Glu)
|
rs1331891798
|
|
NM_000540.3(RYR1):c.24_26dup (p.Asp8dup)
|
rs1568426053
|
|
NM_000540.3(RYR1):c.2501G>A (p.Arg834Gln)
|
rs1314923827
|
|
NM_000540.3(RYR1):c.2503G>T (p.Gly835Trp)
|
rs763120698
|
|
NM_000540.3(RYR1):c.2507C>G (p.Pro836Arg)
|
|
|
NM_000540.3(RYR1):c.2510A>G (p.His837Arg)
|
|
|
NM_000540.3(RYR1):c.2511C>A (p.His837Gln)
|
|
|
NM_000540.3(RYR1):c.2515G>T (p.Val839Leu)
|
|
|
NM_000540.3(RYR1):c.251C>G (p.Thr84Arg)
|
rs186983396
|
|
NM_000540.3(RYR1):c.2522C>G (p.Pro841Arg)
|
|
|
NM_000540.3(RYR1):c.2524A>C (p.Ser842Arg)
|
|
|
NM_000540.3(RYR1):c.2525G>T (p.Ser842Ile)
|
|
|
NM_000540.3(RYR1):c.2528G>T (p.Arg843Leu)
|
|
|
NM_000540.3(RYR1):c.2530T>C (p.Cys844Arg)
|
|
|
NM_000540.3(RYR1):c.2532C>G (p.Cys844Trp)
|
|
|
NM_000540.3(RYR1):c.2533C>A (p.Leu845Ile)
|
|
|
NM_000540.3(RYR1):c.2537C>T (p.Ser846Leu)
|
rs193922775
|
|
NM_000540.3(RYR1):c.2539C>G (p.His847Asp)
|
|
|
NM_000540.3(RYR1):c.2549T>C (p.Phe850Ser)
|
|
|
NM_000540.3(RYR1):c.2550C>G (p.Phe850Leu)
|
rs757850226
|
|
NM_000540.3(RYR1):c.2551G>T (p.Val851Leu)
|
|
|
NM_000540.3(RYR1):c.2577+4C>T
|
|
|
NM_000540.3(RYR1):c.2577+6G>A
|
|
|
NM_000540.3(RYR1):c.2579T>C (p.Ile860Thr)
|
|
|
NM_000540.3(RYR1):c.2585T>G (p.Leu862Arg)
|
|
|
NM_000540.3(RYR1):c.2590C>T (p.Pro864Ser)
|
rs1131691920
|
|
NM_000540.3(RYR1):c.2591C>T (p.Pro864Leu)
|
rs2145432918
|
|
NM_000540.3(RYR1):c.2593C>T (p.His865Tyr)
|
|
|
NM_000540.3(RYR1):c.2594A>G (p.His865Arg)
|
rs371862065
|
|
NM_000540.3(RYR1):c.259G>C (p.Ala87Pro)
|
|
|
NM_000540.3(RYR1):c.2613G>T (p.Glu871Asp)
|
rs1967897651
|
|
NM_000540.3(RYR1):c.2614A>C (p.Lys872Gln)
|
rs1555772258
|
|
NM_000540.3(RYR1):c.2618T>C (p.Leu873Pro)
|
rs1555772266
|
|
NM_000540.3(RYR1):c.2633A>G (p.His878Arg)
|
|
|
NM_000540.3(RYR1):c.2647C>A (p.Leu883Ile)
|
|
|
NM_000540.3(RYR1):c.2654G>T (p.Arg885Leu)
|
rs370634440
|
|
NM_000540.3(RYR1):c.2656A>G (p.Ile886Val)
|
rs1568458376
|
|
NM_000540.3(RYR1):c.2657T>C (p.Ile886Thr)
|
|
|
NM_000540.3(RYR1):c.2658C>A (p.Ile886=)
|
|
|
NM_000540.3(RYR1):c.2658C>G (p.Ile886Met)
|
|
|
NM_000540.3(RYR1):c.2659G>C (p.Glu887Gln)
|
|
|
NM_000540.3(RYR1):c.2662C>G (p.Gln888Glu)
|
|
|
NM_000540.3(RYR1):c.2662C>T (p.Gln888Ter)
|
|
|
NM_000540.3(RYR1):c.2677_2679delinsAGG (p.Gly893Arg)
|
|
|
NM_000540.3(RYR1):c.2682+3G>A
|
|
|
NM_000540.3(RYR1):c.2682+5G>A
|
rs1967903452
|
|
NM_000540.3(RYR1):c.2682G>A (p.Pro894=)
|
rs919322708
|
|
NM_000540.3(RYR1):c.2682G>C (p.Pro894=)
|
rs919322708
|
|
NM_000540.3(RYR1):c.2683-4C>A
|
rs1009407504
|
|
NM_000540.3(RYR1):c.2683G>A (p.Val895Ile)
|
|
|
NM_000540.3(RYR1):c.2689G>A (p.Asp897Asn)
|
rs1201573826
|
|
NM_000540.3(RYR1):c.2690A>G (p.Asp897Gly)
|
|
|
NM_000540.3(RYR1):c.2692G>A (p.Asp898Asn)
|
|
|
NM_000540.3(RYR1):c.2693A>T (p.Asp898Val)
|
|
|
NM_000540.3(RYR1):c.2694CAA[1] (p.Asn899del)
|
|
|
NM_000540.3(RYR1):c.2697C>A (p.Asn899Lys)
|
rs201401814
|
|
NM_000540.3(RYR1):c.2697C>G (p.Asn899Lys)
|
|
|
NM_000540.3(RYR1):c.269A>G (p.Glu90Gly)
|
|
|
NM_000540.3(RYR1):c.270+3G>A
|
|
|
NM_000540.3(RYR1):c.270+4A>G
|
|
|
NM_000540.3(RYR1):c.270+6G>A
|
|
|
NM_000540.3(RYR1):c.2702G>T (p.Arg901Met)
|
rs1967922577
|
|
NM_000540.3(RYR1):c.2703G>T (p.Arg901Ser)
|
|
|
NM_000540.3(RYR1):c.2710C>T (p.Pro904Ser)
|
|
|
NM_000540.3(RYR1):c.2713T>G (p.Cys905Gly)
|
|
|
NM_000540.3(RYR1):c.2717T>C (p.Leu906Pro)
|
|
|
NM_000540.3(RYR1):c.2719G>C (p.Val907Leu)
|
|
|
NM_000540.3(RYR1):c.2723A>G (p.Asp908Gly)
|
|
|
NM_000540.3(RYR1):c.2727C>A (p.Phe909Leu)
|
rs1307510140
|
|
NM_000540.3(RYR1):c.2733C>G (p.Ser911Arg)
|
|
|
NM_000540.3(RYR1):c.2750G>A (p.Arg917Lys)
|
|
|
NM_000540.3(RYR1):c.2753A>G (p.Asn918Ser)
|
|
|
NM_000540.3(RYR1):c.2759A>C (p.Asn920Thr)
|
|
|
NM_000540.3(RYR1):c.2768T>C (p.Met923Thr)
|
rs2145435079
|
|
NM_000540.3(RYR1):c.2771C>G (p.Ser924Cys)
|
|
|
NM_000540.3(RYR1):c.2774G>A (p.Gly925Glu)
|
|
|
NM_000540.3(RYR1):c.2777A>C (p.Glu926Ala)
|
|
|
NM_000540.3(RYR1):c.2782C>T (p.Leu928Phe)
|
|
|
NM_000540.3(RYR1):c.2783T>G (p.Leu928Arg)
|
|
|
NM_000540.3(RYR1):c.2786+1G>A
|
|
|
NM_000540.3(RYR1):c.2787-15C>G
|
|
|
NM_000540.3(RYR1):c.2787-7C>A
|
|
|
NM_000540.3(RYR1):c.2787-9C>G
|
|
|
NM_000540.3(RYR1):c.2787G>C (p.Lys929Asn)
|
|
|
NM_000540.3(RYR1):c.2812G>T (p.Val938Leu)
|
|
|
NM_000540.3(RYR1):c.2815G>C (p.Gly939Arg)
|
|
|
NM_000540.3(RYR1):c.2818A>G (p.Met940Val)
|
|
|
NM_000540.3(RYR1):c.2819T>C (p.Met940Thr)
|
|
|
NM_000540.3(RYR1):c.2824G>A (p.Asp942Asn)
|
rs869312736
|
|
NM_000540.3(RYR1):c.2830A>T (p.Lys944Ter)
|
|
|
NM_000540.3(RYR1):c.2839G>C (p.Asp947His)
|
|
|
NM_000540.3(RYR1):c.2854A>T (p.Thr952Ser)
|
|
|
NM_000540.3(RYR1):c.2855C>G (p.Thr952Arg)
|
|
|
NM_000540.3(RYR1):c.2855C>T (p.Thr952Ile)
|
|
|
NM_000540.3(RYR1):c.2857A>G (p.Lys953Glu)
|
|
|
NM_000540.3(RYR1):c.2864C>G (p.Pro955Arg)
|
|
|
NM_000540.3(RYR1):c.2864C>T (p.Pro955Leu)
|
|
|
NM_000540.3(RYR1):c.2866A>G (p.Lys956Glu)
|
|
|
NM_000540.3(RYR1):c.2869A>T (p.Thr957Ser)
|
|
|
NM_000540.3(RYR1):c.286G>C (p.Gly96Arg)
|
|
|
NM_000540.3(RYR1):c.2870+3G>A
|
|
|
NM_000540.3(RYR1):c.2870+5G>A
|
rs1968000305
|
|
NM_000540.3(RYR1):c.2871-2A>G
|
|
|
NM_000540.3(RYR1):c.2871G>A (p.Thr957=)
|
|
|
NM_000540.3(RYR1):c.2873A>G (p.Tyr958Cys)
|
|
|
NM_000540.3(RYR1):c.2875A>G (p.Met959Val)
|
|
|
NM_000540.3(RYR1):c.2876T>C (p.Met959Thr)
|
|
|
NM_000540.3(RYR1):c.2879T>C (p.Met960Thr)
|
|
|
NM_000540.3(RYR1):c.2880G>A (p.Met960Ile)
|
|
|
NM_000540.3(RYR1):c.2882G>A (p.Ser961Asn)
|
|
|
NM_000540.3(RYR1):c.2885A>G (p.Asn962Ser)
|
|
|
NM_000540.3(RYR1):c.2890T>C (p.Tyr964His)
|
|
|
NM_000540.3(RYR1):c.2896C>G (p.Pro966Ala)
|
|
|
NM_000540.3(RYR1):c.2900C>T (p.Ala967Val)
|
|
|
NM_000540.3(RYR1):c.2914A>G (p.Ser972Gly)
|
rs1568461688
|
|
NM_000540.3(RYR1):c.2920G>T (p.Val974Leu)
|
|
|
NM_000540.3(RYR1):c.2923C>T (p.Arg975Trp)
|
rs371278145
|
|
NM_000540.3(RYR1):c.2932C>T (p.Pro978Ser)
|
|
|
NM_000540.3(RYR1):c.2936C>G (p.Ala979Gly)
|
rs769902566
|
|
NM_000540.3(RYR1):c.293G>A (p.Arg98Lys)
|
|
|
NM_000540.3(RYR1):c.2942C>T (p.Thr981Met)
|
|
|
NM_000540.3(RYR1):c.2948T>G (p.Leu983Arg)
|
|
|
NM_000540.3(RYR1):c.2953G>A (p.Asp985Asn)
|
|
|
NM_000540.3(RYR1):c.2975A>T (p.His992Leu)
|
|
|
NM_000540.3(RYR1):c.2984G>A (p.Trp995Ter)
|
rs1440262870
|
|
NM_000540.3(RYR1):c.2985G>C (p.Trp995Cys)
|
|
|
NM_000540.3(RYR1):c.2987C>T (p.Ala996Val)
|
|
|
NM_000540.3(RYR1):c.2989C>T (p.Arg997Ter)
|
rs758925580
|
|
NM_000540.3(RYR1):c.2990G>A (p.Arg997Gln)
|
|
|
NM_000540.3(RYR1):c.3001G>A (p.Gly1001Ser)
|
rs769915556
|
|
NM_000540.3(RYR1):c.3005A>G (p.Gln1002Arg)
|
|
|
NM_000540.3(RYR1):c.3016T>C (p.Tyr1006His)
|
|
|
NM_000540.3(RYR1):c.3021C>G (p.Ser1007Arg)
|
|
|
NM_000540.3(RYR1):c.3029A>G (p.Gln1010Arg)
|
|
|
NM_000540.3(RYR1):c.3046C>T (p.Arg1016Ter)
|
rs759085500
|
|
NM_000540.3(RYR1):c.3049A>C (p.Asn1017His)
|
rs2145447118
|
|
NM_000540.3(RYR1):c.3052C>G (p.Pro1018Ala)
|
rs143331857
|
|
NM_000540.3(RYR1):c.3052C>T (p.Pro1018Ser)
|
|
|
NM_000540.3(RYR1):c.3056G>C (p.Arg1019Pro)
|
|
|
NM_000540.3(RYR1):c.3056G>T (p.Arg1019Leu)
|
|
|
NM_000540.3(RYR1):c.3057_3071del (p.Val1021_Leu1025del)
|
rs1600711151
|
|
NM_000540.3(RYR1):c.3058C>G (p.Leu1020Val)
|
|
|
NM_000540.3(RYR1):c.3062T>C (p.Val1021Ala)
|
|
|
NM_000540.3(RYR1):c.3065C>T (p.Pro1022Leu)
|
|
|
NM_000540.3(RYR1):c.3070C>T (p.Arg1024Cys)
|
|
|
NM_000540.3(RYR1):c.3071G>A (p.Arg1024His)
|
|
|
NM_000540.3(RYR1):c.307G>T (p.Gly103Cys)
|
|
|
NM_000540.3(RYR1):c.3086C>T (p.Ala1029Val)
|
rs2145447314
|
|
NM_000540.3(RYR1):c.3088A>G (p.Thr1030Ala)
|
|
|
NM_000540.3(RYR1):c.3094C>G (p.Arg1032Gly)
|
rs374477216
|
|
NM_000540.3(RYR1):c.3094C>T (p.Arg1032Cys)
|
|
|
NM_000540.3(RYR1):c.3095G>T (p.Arg1032Leu)
|
|
|
NM_000540.3(RYR1):c.3102C>A (p.Asn1034Lys)
|
|
|
NM_000540.3(RYR1):c.3104G>A (p.Arg1035Gln)
|
|
|
NM_000540.3(RYR1):c.3116G>A (p.Cys1039Tyr)
|
rs1396808794
|
|
NM_000540.3(RYR1):c.311A>G (p.His104Arg)
|
|
|
NM_000540.3(RYR1):c.3122C>T (p.Ala1041Val)
|
|
|
NM_000540.3(RYR1):c.3124G>A (p.Val1042Met)
|
rs540088339
|
|
NM_000540.3(RYR1):c.3124G>T (p.Val1042Leu)
|
rs540088339
|
|
NM_000540.3(RYR1):c.3131C>T (p.Thr1044Ile)
|
|
|
NM_000540.3(RYR1):c.3133C>T (p.Leu1045Phe)
|
rs1968104774
|
|
NM_000540.3(RYR1):c.3149A>G (p.Tyr1050Cys)
|
|
|
NM_000540.3(RYR1):c.3149ACA[1] (p.Asn1051del)
|
|
|
NM_000540.3(RYR1):c.3154A>G (p.Ile1052Val)
|
|
|
NM_000540.3(RYR1):c.3157G>A (p.Glu1053Lys)
|
rs746198645
|
|
NM_000540.3(RYR1):c.3166G>A (p.Asp1056Asn)
|
rs2145447772
|
|
NM_000540.3(RYR1):c.3169C>A (p.Gln1057Lys)
|
|
|
NM_000540.3(RYR1):c.3172G>A (p.Glu1058Lys)
|
rs1968107192
|
|
NM_000540.3(RYR1):c.3174G>T (p.Glu1058Asp)
|
|
|
NM_000540.3(RYR1):c.3175C>A (p.Pro1059Thr)
|
|
|
NM_000540.3(RYR1):c.3178+5G>A
|
|
|
NM_000540.3(RYR1):c.3178A>T (p.Ser1060Cys)
|
rs1568462217
|
|
NM_000540.3(RYR1):c.3179-9C>A
|
|
|
NM_000540.3(RYR1):c.317T>C (p.Ile106Thr)
|
|
|
NM_000540.3(RYR1):c.3184G>T (p.Val1062Leu)
|
|
|
NM_000540.3(RYR1):c.3190A>G (p.Asn1064Asp)
|
|
|
NM_000540.3(RYR1):c.3196del (p.Ser1066fs)
|
|
|
NM_000540.3(RYR1):c.3197C>T (p.Ser1066Phe)
|
|
|
NM_000540.3(RYR1):c.31del (p.Gln11fs)
|
|
|
NM_000540.3(RYR1):c.3214C>T (p.Arg1072Cys)
|
|
|
NM_000540.3(RYR1):c.3215_3216del (p.Arg1072fs)
|
|
|
NM_000540.3(RYR1):c.3216C>T (p.Arg1072=)
|
rs1968178599
|
|
NM_000540.3(RYR1):c.3242C>T (p.Thr1081Ile)
|
|
|
NM_000540.3(RYR1):c.3244G>C (p.Val1082Leu)
|
|
|
NM_000540.3(RYR1):c.3245T>G (p.Val1082Gly)
|
|
|
NM_000540.3(RYR1):c.3259T>C (p.Trp1087Arg)
|
|
|
NM_000540.3(RYR1):c.3266T>A (p.Phe1089Tyr)
|
|
|
NM_000540.3(RYR1):c.3267C>A (p.Phe1089Leu)
|
rs1302567016
|
|
NM_000540.3(RYR1):c.3267C>G (p.Phe1089Leu)
|
|
|
NM_000540.3(RYR1):c.3268G>C (p.Glu1090Gln)
|
rs944826130
|
|
NM_000540.3(RYR1):c.3270G>C (p.Glu1090Asp)
|
|
|
NM_000540.3(RYR1):c.3274G>C (p.Glu1092Gln)
|
|
|
NM_000540.3(RYR1):c.3278C>T (p.Ala1093Val)
|
|
|
NM_000540.3(RYR1):c.3284_3292del (p.Thr1095_Glu1098delinsLys)
|
|
|
NM_000540.3(RYR1):c.3287C>T (p.Thr1096Ile)
|
|
|
NM_000540.3(RYR1):c.3291C>T (p.Gly1097=)
|
rs1234999215
|
|
NM_000540.3(RYR1):c.3292G>A (p.Glu1098Lys)
|
rs1968184238
|
|
NM_000540.3(RYR1):c.3298C>T (p.Arg1100Cys)
|
|
|
NM_000540.3(RYR1):c.329A>G (p.His110Arg)
|
|
|
NM_000540.3(RYR1):c.32A>C (p.Gln11Pro)
|
|
|
NM_000540.3(RYR1):c.3304G>A (p.Gly1102Ser)
|
|
|
NM_000540.3(RYR1):c.330T>A (p.His110Gln)
|
rs2145335735
|
|
NM_000540.3(RYR1):c.3311C>G (p.Ala1104Gly)
|
rs149096607
|
|
NM_000540.3(RYR1):c.3322C>A (p.Leu1108Met)
|
|
|
NM_000540.3(RYR1):c.3322dup (p.Leu1108fs)
|
|
|
NM_000540.3(RYR1):c.3331G>C (p.Asp1111His)
|
|
|
NM_000540.3(RYR1):c.3333T>G (p.Asp1111Glu)
|
|
|
NM_000540.3(RYR1):c.3334G>A (p.Val1112Ile)
|
|
|
NM_000540.3(RYR1):c.3339G>T (p.Glu1113Asp)
|
|
|
NM_000540.3(RYR1):c.3343G>C (p.Gly1115Arg)
|
rs775927793
|
|
NM_000540.3(RYR1):c.3345A>G (p.Gly1115=)
|
|
|
NM_000540.3(RYR1):c.3346G>C (p.Ala1116Pro)
|
rs763044626
|
|
NM_000540.3(RYR1):c.334C>T (p.His112Tyr)
|
|
|
NM_000540.3(RYR1):c.3353A>G (p.Glu1118Gly)
|
rs1968189395
|
|
NM_000540.3(RYR1):c.3381+4G>A
|
rs1163970502
|
|
NM_000540.3(RYR1):c.3381+4G>C
|
|
|
NM_000540.3(RYR1):c.3381+5G>T
|
|
|
NM_000540.3(RYR1):c.3381+5del
|
|
|
NM_000540.3(RYR1):c.3381+6T>A
|
|
|
NM_000540.3(RYR1):c.3381+6T>C
|
rs1568463621
|
|
NM_000540.3(RYR1):c.3381+8C>A
|
|
|
NM_000540.3(RYR1):c.3382-3C>T
|
|
|
NM_000540.3(RYR1):c.3383G>C (p.Gly1128Ala)
|
|
|
NM_000540.3(RYR1):c.3388C>G (p.Arg1130Gly)
|
|
|
NM_000540.3(RYR1):c.3389G>T (p.Arg1130Leu)
|
|
|
NM_000540.3(RYR1):c.3391T>G (p.Trp1131Gly)
|
|
|
NM_000540.3(RYR1):c.3395A>C (p.His1132Pro)
|
|
|
NM_000540.3(RYR1):c.3400G>A (p.Gly1134Ser)
|
|
|
NM_000540.3(RYR1):c.3409C>T (p.Pro1137Ser)
|
|
|
NM_000540.3(RYR1):c.3410C>T (p.Pro1137Leu)
|
rs1225931762
|
|
NM_000540.3(RYR1):c.3419G>A (p.Arg1140His)
|
|
|
NM_000540.3(RYR1):c.341G>A (p.Arg114His)
|
rs574357386
|
|
NM_000540.3(RYR1):c.3420C>G (p.Arg1140=)
|
rs201599911
|
|
NM_000540.3(RYR1):c.3420C>T (p.Arg1140=)
|
rs201599911
|
|
NM_000540.3(RYR1):c.3422C>A (p.Pro1141His)
|
|
|
NM_000540.3(RYR1):c.3437A>G (p.Asp1146Gly)
|
|
|
NM_000540.3(RYR1):c.345+3G>A
|
|
|
NM_000540.3(RYR1):c.3451A>G (p.Met1151Val)
|
|
|
NM_000540.3(RYR1):c.3452T>A (p.Met1151Lys)
|
|
|
NM_000540.3(RYR1):c.3457G>A (p.Asp1153Asn)
|
|
|
NM_000540.3(RYR1):c.3460C>T (p.Leu1154Phe)
|
|
|
NM_000540.3(RYR1):c.3462C>T (p.Leu1154=)
|
|
|
NM_000540.3(RYR1):c.3466G>T (p.Glu1156Ter)
|
|
|
NM_000540.3(RYR1):c.3466_3475dup (p.Ile1159fs)
|
|
|
NM_000540.3(RYR1):c.3470A>C (p.Asn1157Thr)
|
|
|
NM_000540.3(RYR1):c.3477T>G (p.Ile1159Met)
|
|
|
NM_000540.3(RYR1):c.3478A>G (p.Ile1160Val)
|
|
|
NM_000540.3(RYR1):c.3484A>G (p.Thr1162Ala)
|
|
|
NM_000540.3(RYR1):c.3491A>G (p.Asn1164Ser)
|
|
|
NM_000540.3(RYR1):c.3493G>A (p.Gly1165Ser)
|
|
|
NM_000540.3(RYR1):c.3494G>A (p.Gly1165Asp)
|
rs559581937
|
|
NM_000540.3(RYR1):c.3496G>A (p.Glu1166Lys)
|
|
|
NM_000540.3(RYR1):c.3498G>C (p.Glu1166Asp)
|
rs546323484
|
|
NM_000540.3(RYR1):c.3499G>A (p.Val1167Ile)
|
rs747251082
|
|
NM_000540.3(RYR1):c.34T>C (p.Phe12Leu)
|
|
|
NM_000540.3(RYR1):c.3500T>A (p.Val1167Asp)
|
rs2145461914
|
|
NM_000540.3(RYR1):c.3505A>G (p.Met1169Val)
|
rs139069946
|
|
NM_000540.3(RYR1):c.3507G>A (p.Met1169Ile)
|
|
|
NM_000540.3(RYR1):c.3513C>G (p.Asp1171Glu)
|
rs1968278014
|
|
NM_000540.3(RYR1):c.3517G>A (p.Gly1173Ser)
|
|
|
NM_000540.3(RYR1):c.3520T>C (p.Ser1174Pro)
|
|
|
NM_000540.3(RYR1):c.3526A>G (p.Thr1176Ala)
|
rs1968278835
|
|
NM_000540.3(RYR1):c.3527C>T (p.Thr1176Ile)
|
rs549201486
|
|
NM_000540.3(RYR1):c.3532T>C (p.Phe1178Leu)
|
|
|
NM_000540.3(RYR1):c.3534C>G (p.Phe1178Leu)
|
|
|
NM_000540.3(RYR1):c.3539A>G (p.Glu1180Gly)
|
|
|
NM_000540.3(RYR1):c.3543T>G (p.Ile1181Met)
|
|
|
NM_000540.3(RYR1):c.3550G>A (p.Gly1184Arg)
|
rs1968280304
|
|
NM_000540.3(RYR1):c.3551G>C (p.Gly1184Ala)
|
rs1968280444
|
|
NM_000540.3(RYR1):c.3553G>A (p.Asp1185Asn)
|
|
|
NM_000540.3(RYR1):c.3556G>A (p.Gly1186Ser)
|
rs1568465251
|
|
NM_000540.3(RYR1):c.3557-7C>A
|
rs745912857
|
|
NM_000540.3(RYR1):c.3562C>A (p.Leu1188Met)
|
|
|
NM_000540.3(RYR1):c.3565C>A (p.Pro1189Thr)
|
|
|
NM_000540.3(RYR1):c.3568G>T (p.Val1190Phe)
|
rs749283427
|
|
NM_000540.3(RYR1):c.3575G>C (p.Ser1192Thr)
|
|
|
NM_000540.3(RYR1):c.3586G>A (p.Gly1196Ser)
|
rs761486341
|
|
NM_000540.3(RYR1):c.358C>T (p.Leu120Phe)
|
rs1229011605
|
|
NM_000540.3(RYR1):c.3601C>A (p.Leu1201Met)
|
|
|
NM_000540.3(RYR1):c.3618C>A (p.Asp1206Glu)
|
|
|
NM_000540.3(RYR1):c.3618C>G (p.Asp1206Glu)
|
|
|
NM_000540.3(RYR1):c.3621G>A (p.Val1207=)
|
|
|
NM_000540.3(RYR1):c.3623G>T (p.Ser1208Ile)
|
|
|
NM_000540.3(RYR1):c.3633G>T (p.Arg1211Ser)
|
|
|
NM_000540.3(RYR1):c.3643A>T (p.Ile1215Phe)
|
rs1283129743
|
|
NM_000540.3(RYR1):c.364A>C (p.Thr122Pro)
|
rs1555763388
|
|
NM_000540.3(RYR1):c.3656A>C (p.Gln1219Pro)
|
rs2145463700
|
|
NM_000540.3(RYR1):c.3658G>A (p.Glu1220Lys)
|
rs757687986
|
|
NM_000540.3(RYR1):c.3674T>C (p.Phe1225Ser)
|
|
|
NM_000540.3(RYR1):c.3677C>A (p.Ala1226Asp)
|
rs1600720111
|
|
NM_000540.3(RYR1):c.3683A>T (p.Asn1228Ile)
|
|
|
NM_000540.3(RYR1):c.3684C>G (p.Asn1228Lys)
|
|
|
NM_000540.3(RYR1):c.3686T>G (p.Met1229Arg)
|
|
|
NM_000540.3(RYR1):c.3688C>A (p.Gln1230Lys)
|
|
|
NM_000540.3(RYR1):c.3691C>T (p.Arg1231Cys)
|
|
|
NM_000540.3(RYR1):c.3695C>A (p.Pro1232Gln)
|
rs1363931971
|
|
NM_000540.3(RYR1):c.3695C>T (p.Pro1232Leu)
|
rs1363931971
|
|
NM_000540.3(RYR1):c.3697G>A (p.Val1233Ile)
|
|
|
NM_000540.3(RYR1):c.36C>G (p.Phe12Leu)
|
|
|
NM_000540.3(RYR1):c.3702C>T (p.Thr1234=)
|
rs1600720232
|
|
NM_000540.3(RYR1):c.3704C>T (p.Thr1235Ile)
|
|
|
NM_000540.3(RYR1):c.3709T>C (p.Phe1237Leu)
|
|
|
NM_000540.3(RYR1):c.3712A>C (p.Ser1238Arg)
|
|
|
NM_000540.3(RYR1):c.3713_3715dup (p.Ser1238dup)
|
rs761789667
|
|
NM_000540.3(RYR1):c.371G>A (p.Arg124His)
|
|
|
NM_000540.3(RYR1):c.3727C>A (p.Gln1243Lys)
|
|
|
NM_000540.3(RYR1):c.3728A>G (p.Gln1243Arg)
|
|
|
NM_000540.3(RYR1):c.3737C>T (p.Pro1246Leu)
|
rs945038715
|
|
NM_000540.3(RYR1):c.374C>G (p.Ser125Cys)
|
rs904309560
|
|
NM_000540.3(RYR1):c.3751C>A (p.His1251Asn)
|
rs943777976
|
|
NM_000540.3(RYR1):c.3751C>G (p.His1251Asp)
|
|
|
NM_000540.3(RYR1):c.3757C>T (p.His1253Tyr)
|
rs2145464364
|
|
NM_000540.3(RYR1):c.3760T>C (p.Tyr1254His)
|
|
|
NM_000540.3(RYR1):c.3765+3A>G
|
|
|
NM_000540.3(RYR1):c.3773G>A (p.Arg1258Gln)
|
|
|
NM_000540.3(RYR1):c.3773G>C (p.Arg1258Pro)
|
|
|
NM_000540.3(RYR1):c.3773G>T (p.Arg1258Leu)
|
rs886054381
|
|
NM_000540.3(RYR1):c.3775G>T (p.Val1259Leu)
|
|
|
NM_000540.3(RYR1):c.3778G>A (p.Asp1260Asn)
|
rs1064796577
|
|
NM_000540.3(RYR1):c.3780C>G (p.Asp1260Glu)
|
rs746617954
|
|
NM_000540.3(RYR1):c.3781G>A (p.Gly1261Ser)
|
rs1283943829
|
|
NM_000540.3(RYR1):c.3784A>G (p.Thr1262Ala)
|
|
|
NM_000540.3(RYR1):c.3787G>T (p.Val1263Leu)
|
rs770725171
|
|
NM_000540.3(RYR1):c.3796C>G (p.Pro1266Ala)
|
|
|
NM_000540.3(RYR1):c.3796C>T (p.Pro1266Ser)
|
|
|
NM_000540.3(RYR1):c.3797C>A (p.Pro1266His)
|
|
|
NM_000540.3(RYR1):c.3797C>T (p.Pro1266Leu)
|
|
|
NM_000540.3(RYR1):c.3799C>A (p.Pro1267Thr)
|
rs564495912
|
|
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.3802T>A (p.Cys1268Ser)
|
|
|
NM_000540.3(RYR1):c.3802T>C (p.Cys1268Arg)
|
|
|
NM_000540.3(RYR1):c.3803G>A (p.Cys1268Tyr)
|
|
|
NM_000540.3(RYR1):c.3808C>T (p.Arg1270Cys)
|
rs774705775
|
|
NM_000540.3(RYR1):c.3809G>A (p.Arg1270His)
|
|
|
NM_000540.3(RYR1):c.3809G>C (p.Arg1270Pro)
|
|
|
NM_000540.3(RYR1):c.380C>T (p.Thr127Ile)
|
|
|
NM_000540.3(RYR1):c.3814A>G (p.Thr1272Ala)
|
|
|
NM_000540.3(RYR1):c.3820C>G (p.Arg1274Gly)
|
rs1425575552
|
|
NM_000540.3(RYR1):c.3821G>A (p.Arg1274His)
|
|
|
NM_000540.3(RYR1):c.3823A>C (p.Thr1275Pro)
|
|
|
NM_000540.3(RYR1):c.3823A>G (p.Thr1275Ala)
|
rs1568469574
|
|
NM_000540.3(RYR1):c.3839A>G (p.Asn1280Ser)
|
|
|
NM_000540.3(RYR1):c.3856C>G (p.Leu1286Val)
|
|
|
NM_000540.3(RYR1):c.3865C>T (p.Arg1289Trp)
|
|
|
NM_000540.3(RYR1):c.3866G>A (p.Arg1289Gln)
|
|
|
NM_000540.3(RYR1):c.3866G>C (p.Arg1289Pro)
|
rs1222529194
|
|
NM_000540.3(RYR1):c.3873C>G (p.Ser1291Arg)
|
|
|
NM_000540.3(RYR1):c.3874C>T (p.Leu1292Phe)
|
|
|
NM_000540.3(RYR1):c.3884A>G (p.Gln1295Arg)
|
|
|
NM_000540.3(RYR1):c.3888C>T (p.Phe1296=)
|
|
|
NM_000540.3(RYR1):c.3895C>G (p.His1299Asp)
|
|
|
NM_000540.3(RYR1):c.3897C>A (p.His1299Gln)
|
|
|
NM_000540.3(RYR1):c.38T>G (p.Leu13Arg)
|
rs193922744
|
|
NM_000540.3(RYR1):c.3901C>G (p.Arg1301Gly)
|
|
|
NM_000540.3(RYR1):c.3906C>G (p.Cys1302Trp)
|
|
|
NM_000540.3(RYR1):c.3909_3911del (p.Ala1304del)
|
|
|
NM_000540.3(RYR1):c.3920C>T (p.Thr1307Ile)
|
rs1968543733
|
|
NM_000540.3(RYR1):c.3923C>T (p.Pro1308Leu)
|
|
|
NM_000540.3(RYR1):c.3928G>T (p.Ala1310Ser)
|
|
|
NM_000540.3(RYR1):c.3929C>G (p.Ala1310Gly)
|
rs2145483571
|
|
NM_000540.3(RYR1):c.392C>T (p.Ala131Val)
|
|
|
NM_000540.3(RYR1):c.3930A>C (p.Ala1310=)
|
|
|
NM_000540.3(RYR1):c.3935C>T (p.Pro1312Leu)
|
|
|
NM_000540.3(RYR1):c.3946C>T (p.Pro1316Ser)
|
rs200894780
|
|
NM_000540.3(RYR1):c.3947C>T (p.Pro1316Leu)
|
|
|
NM_000540.3(RYR1):c.3955G>A (p.Glu1319Lys)
|
|
|
NM_000540.3(RYR1):c.3961G>A (p.Glu1321Lys)
|
rs1568469863
|
|
NM_000540.3(RYR1):c.3963G>C (p.Glu1321Asp)
|
|
|
NM_000540.3(RYR1):c.3964G>T (p.Ala1322Ser)
|
|
|
NM_000540.3(RYR1):c.3965C>T (p.Ala1322Val)
|
|
|
NM_000540.3(RYR1):c.3967C>T (p.Arg1323Trp)
|
|
|
NM_000540.3(RYR1):c.3968G>A (p.Arg1323Gln)
|
|
|
NM_000540.3(RYR1):c.3970G>A (p.Ala1324Thr)
|
|
|
NM_000540.3(RYR1):c.3971C>T (p.Ala1324Val)
|
|
|
NM_000540.3(RYR1):c.3979C>A (p.Pro1327Thr)
|
|
|
NM_000540.3(RYR1):c.397G>A (p.Asp133Asn)
|
|
|
NM_000540.3(RYR1):c.3992A>G (p.Tyr1331Cys)
|
|
|
NM_000540.3(RYR1):c.3G>C (p.Met1Ile)
|
|
|
NM_000540.3(RYR1):c.4001T>G (p.Leu1334Arg)
|
|
|
NM_000540.3(RYR1):c.4007G>T (p.Arg1336Leu)
|
|
|
NM_000540.3(RYR1):c.400G>A (p.Val134Met)
|
|
|
NM_000540.3(RYR1):c.4010C>T (p.Ser1337Leu)
|
|
|
NM_000540.3(RYR1):c.4012G>C (p.Ala1338Pro)
|
|
|
NM_000540.3(RYR1):c.4013C>T (p.Ala1338Val)
|
|
|
NM_000540.3(RYR1):c.4015G>C (p.Gly1339Arg)
|
|
|
NM_000540.3(RYR1):c.4015G>T (p.Gly1339Trp)
|
|
|
NM_000540.3(RYR1):c.4019G>T (p.Gly1340Val)
|
|
|
NM_000540.3(RYR1):c.4026C>T (p.Ser1342=)
|
rs182004703
|
|
NM_000540.3(RYR1):c.4027G>A (p.Glu1343Lys)
|
rs956750749
|
|
NM_000540.3(RYR1):c.4030G>A (p.Ala1344Thr)
|
|
|
NM_000540.3(RYR1):c.4039G>A (p.Gly1347Ser)
|
|
|
NM_000540.3(RYR1):c.4043A>G (p.Lys1348Arg)
|
|
|
NM_000540.3(RYR1):c.4045G>C (p.Glu1349Gln)
|
|
|
NM_000540.3(RYR1):c.4054G>A (p.Ala1352Thr)
|
|
|
NM_000540.3(RYR1):c.4062G>C (p.Glu1354Asp)
|
|
|
NM_000540.3(RYR1):c.4066G>A (p.Ala1356Thr)
|
rs933347966
|
|
NM_000540.3(RYR1):c.4066G>C (p.Ala1356Pro)
|
|
|
NM_000540.3(RYR1):c.4074G>C (p.Gly1358=)
|
|
|
NM_000540.3(RYR1):c.4079C>T (p.Thr1360Ile)
|
|
|
NM_000540.3(RYR1):c.4082C>T (p.Pro1361Leu)
|
|
|
NM_000540.3(RYR1):c.4088C>G (p.Ala1363Gly)
|
rs774603798
|
|
NM_000540.3(RYR1):c.4090G>A (p.Gly1364Arg)
|
|
|
NM_000540.3(RYR1):c.4090G>T (p.Gly1364Trp)
|
rs35869497
|
|
NM_000540.3(RYR1):c.4091G>A (p.Gly1364Glu)
|
|
|
NM_000540.3(RYR1):c.4091G>C (p.Gly1364Ala)
|
rs1489344675
|
|
NM_000540.3(RYR1):c.4094G>C (p.Gly1365Ala)
|
|
|
NM_000540.3(RYR1):c.4097A>G (p.Glu1366Gly)
|
|
|
NM_000540.3(RYR1):c.4099G>A (p.Ala1367Thr)
|
|
|
NM_000540.3(RYR1):c.40C>T (p.Arg14Trp)
|
|
|
NM_000540.3(RYR1):c.4100C>A (p.Ala1367Glu)
|
|
|
NM_000540.3(RYR1):c.4103A>C (p.Gln1368Pro)
|
|
|
NM_000540.3(RYR1):c.4105C>G (p.Pro1369Ala)
|
|
|
NM_000540.3(RYR1):c.4105C>T (p.Pro1369Ser)
|
|
|
NM_000540.3(RYR1):c.4108G>T (p.Ala1370Ser)
|
|
|
NM_000540.3(RYR1):c.4109C>G (p.Ala1370Gly)
|
|
|
NM_000540.3(RYR1):c.4111A>G (p.Arg1371Gly)
|
|
|
NM_000540.3(RYR1):c.4111A>T (p.Arg1371Trp)
|
|
|
NM_000540.3(RYR1):c.4112G>T (p.Arg1371Met)
|
|
|
NM_000540.3(RYR1):c.4114G>C (p.Ala1372Pro)
|
|
|
NM_000540.3(RYR1):c.4115C>A (p.Ala1372Glu)
|
|
|
NM_000540.3(RYR1):c.4123G>C (p.Glu1375Gln)
|
|
|
NM_000540.3(RYR1):c.4126_4128del (p.Lys1376del)
|
|
|
NM_000540.3(RYR1):c.4128G>C (p.Lys1376Asn)
|
|
|
NM_000540.3(RYR1):c.4139C>T (p.Thr1380Ile)
|
|
|
NM_000540.3(RYR1):c.4160+4A>G
|
|
|
NM_000540.3(RYR1):c.4160+8G>T
|
rs886054383
|
|
NM_000540.3(RYR1):c.4161-13C>G
|
|
|
NM_000540.3(RYR1):c.4161-6T>A
|
|
|
NM_000540.3(RYR1):c.4164C>G (p.Phe1388Leu)
|
|
|
NM_000540.3(RYR1):c.4168T>C (p.Phe1390Leu)
|
|
|
NM_000540.3(RYR1):c.4182G>T (p.Lys1394Asn)
|
rs886054384
|
|
NM_000540.3(RYR1):c.4186G>T (p.Ala1396Ser)
|
|
|
NM_000540.3(RYR1):c.4191G>C (p.Met1397Ile)
|
|
|
NM_000540.3(RYR1):c.4191G>T (p.Met1397Ile)
|
|
|
NM_000540.3(RYR1):c.4196C>A (p.Thr1399Asn)
|
|
|
NM_000540.3(RYR1):c.4199A>G (p.Gln1400Arg)
|
|
|
NM_000540.3(RYR1):c.4204C>G (p.Pro1402Ala)
|
|
|
NM_000540.3(RYR1):c.4205C>G (p.Pro1402Arg)
|
|
|
NM_000540.3(RYR1):c.4219C>G (p.Leu1407Val)
|
|
|
NM_000540.3(RYR1):c.421A>G (p.Thr141Ala)
|
rs2145336477
|
|
NM_000540.3(RYR1):c.4222C>T (p.Pro1408Ser)
|
|
|
NM_000540.3(RYR1):c.4223C>T (p.Pro1408Leu)
|
|
|
NM_000540.3(RYR1):c.4226G>A (p.Arg1409Gln)
|
|
|
NM_000540.3(RYR1):c.4231C>A (p.Pro1411Thr)
|
rs1228139814
|
|
NM_000540.3(RYR1):c.4231C>G (p.Pro1411Ala)
|
|
|
NM_000540.3(RYR1):c.424+17G>T
|
|
|
NM_000540.3(RYR1):c.424+5A>G
|
|
|
NM_000540.3(RYR1):c.424+6G>A
|
rs1555763462
|
|
NM_000540.3(RYR1):c.425-4A>G
|
|
|
NM_000540.3(RYR1):c.4256A>G (p.Asn1419Ser)
|
rs772135005
|
|
NM_000540.3(RYR1):c.4261G>A (p.Asp1421Asn)
|
|
|
NM_000540.3(RYR1):c.4266C>T (p.Asp1422=)
|
rs886054385
|
|
NM_000540.3(RYR1):c.4269C>G (p.Pro1423=)
|
rs2229141
|
|
NM_000540.3(RYR1):c.4269C>T (p.Pro1423=)
|
rs2229141
|
|
NM_000540.3(RYR1):c.4276A>G (p.Ile1426Val)
|
|
|
NM_000540.3(RYR1):c.427G>A (p.Glu143Lys)
|
|
|
NM_000540.3(RYR1):c.4282A>C (p.Asn1428His)
|
|
|
NM_000540.3(RYR1):c.4282A>G (p.Asn1428Asp)
|
|
|
NM_000540.3(RYR1):c.4283A>G (p.Asn1428Ser)
|
|
|
NM_000540.3(RYR1):c.4293+6G>A
|
|
|
NM_000540.3(RYR1):c.4294-1G>C
|
|
|
NM_000540.3(RYR1):c.4297T>C (p.Tyr1433His)
|
rs1555777044
|
|
NM_000540.3(RYR1):c.4298A>G (p.Tyr1433Cys)
|
rs1331110158
|
|
NM_000540.3(RYR1):c.4304C>A (p.Ser1435Tyr)
|
|
|
NM_000540.3(RYR1):c.4306G>T (p.Val1436Leu)
|
|
|
NM_000540.3(RYR1):c.4310G>A (p.Arg1437Lys)
|
rs1568474736
|
|
NM_000540.3(RYR1):c.4312G>T (p.Val1438Phe)
|
|
|
NM_000540.3(RYR1):c.4314C>T (p.Val1438=)
|
|
|
NM_000540.3(RYR1):c.431C>T (p.Ala144Val)
|
|
|
NM_000540.3(RYR1):c.4322G>T (p.Gly1441Val)
|
rs1968805897
|
|
NM_000540.3(RYR1):c.4338C>G (p.Cys1446Trp)
|
|
|
NM_000540.3(RYR1):c.4339G>T (p.Val1447Leu)
|
|
|
NM_000540.3(RYR1):c.4342T>C (p.Trp1448Arg)
|
rs886054386
|
|
NM_000540.3(RYR1):c.4352G>A (p.Trp1451Ter)
|
|
|
NM_000540.3(RYR1):c.4354G>T (p.Val1452Phe)
|
|
|
NM_000540.3(RYR1):c.4358C>A (p.Thr1453Asn)
|
|
|
NM_000540.3(RYR1):c.4363G>A (p.Asp1455Asn)
|
|
|
NM_000540.3(RYR1):c.4364A>G (p.Asp1455Gly)
|
rs2145502600
|
|
NM_000540.3(RYR1):c.4366T>C (p.Tyr1456His)
|
rs2145502626
|
|
NM_000540.3(RYR1):c.4370A>G (p.His1457Arg)
|
|
|
NM_000540.3(RYR1):c.4373A>G (p.Gln1458Arg)
|
|
|
NM_000540.3(RYR1):c.4376A>G (p.His1459Arg)
|
rs767071972
|
|
NM_000540.3(RYR1):c.4382T>C (p.Met1461Thr)
|
|
|
NM_000540.3(RYR1):c.4383G>A (p.Met1461Ile)
|
|
|
NM_000540.3(RYR1):c.4393C>T (p.Leu1465Phe)
|
rs1005584992
|
|
NM_000540.3(RYR1):c.4394T>G (p.Leu1465Arg)
|
|
|
NM_000540.3(RYR1):c.4399A>C (p.Lys1467Gln)
|
|
|
NM_000540.3(RYR1):c.4400A>T (p.Lys1467Met)
|
rs145573319
|
|
NM_000540.3(RYR1):c.4411G>A (p.Val1471Met)
|
|
|
NM_000540.3(RYR1):c.4411G>T (p.Val1471Leu)
|
rs767558988
|
|
NM_000540.3(RYR1):c.4423A>C (p.Met1475Leu)
|
|
|
NM_000540.3(RYR1):c.4423A>G (p.Met1475Val)
|
|
|
NM_000540.3(RYR1):c.4424T>C (p.Met1475Thr)
|
rs779963151
|
|
NM_000540.3(RYR1):c.4425G>A (p.Met1475Ile)
|
|
|
NM_000540.3(RYR1):c.4429G>A (p.Asp1477Asn)
|
rs1968812982
|
|
NM_000540.3(RYR1):c.4451G>A (p.Ser1484Asn)
|
rs2145503148
|
|
NM_000540.3(RYR1):c.4452C>A (p.Ser1484Arg)
|
|
|
NM_000540.3(RYR1):c.4454+5C>T
|
rs374116226
|
|
NM_000540.3(RYR1):c.4454+6G>T
|
|
|
NM_000540.3(RYR1):c.4454G>A (p.Ser1485Asn)
|
rs1317036540
|
|
NM_000540.3(RYR1):c.4455-7C>T
|
rs776234351
|
|
NM_000540.3(RYR1):c.4457T>C (p.Leu1486Pro)
|
|
|
NM_000540.3(RYR1):c.4459A>C (p.Lys1487Gln)
|
rs1968852685
|
|
NM_000540.3(RYR1):c.4462T>C (p.Cys1488Arg)
|
rs763317222
|
|
NM_000540.3(RYR1):c.4472G>A (p.Cys1491Tyr)
|
|
|
NM_000540.3(RYR1):c.4477A>G (p.Met1493Val)
|
|
|
NM_000540.3(RYR1):c.4478T>G (p.Met1493Arg)
|
rs1568476094
|
|
NM_000540.3(RYR1):c.447G>A (p.Met149Ile)
|
rs772652844
|
|
NM_000540.3(RYR1):c.447G>T (p.Met149Ile)
|
|
|
NM_000540.3(RYR1):c.4481T>C (p.Val1494Ala)
|
rs767928113
|
|
NM_000540.3(RYR1):c.4482G>A (p.Val1494=)
|
|
|
NM_000540.3(RYR1):c.4486G>T (p.Gly1496Cys)
|
rs760892908
|
|
NM_000540.3(RYR1):c.4490G>A (p.Gly1497Glu)
|
|
|
NM_000540.3(RYR1):c.44C>T (p.Thr15Met)
|
|
|
NM_000540.3(RYR1):c.45+4C>A
|
|
|
NM_000540.3(RYR1):c.45+4C>T
|
|
|
NM_000540.3(RYR1):c.4502G>C (p.Ser1501Thr)
|
|
|
NM_000540.3(RYR1):c.4504C>G (p.Pro1502Ala)
|
|
|
NM_000540.3(RYR1):c.450C>T (p.His150=)
|
|
|
NM_000540.3(RYR1):c.4514A>G (p.Gln1505Arg)
|
|
|
NM_000540.3(RYR1):c.4516G>A (p.Gly1506Ser)
|
|
|
NM_000540.3(RYR1):c.4535A>T (p.Asp1512Val)
|
rs2145506709
|
|
NM_000540.3(RYR1):c.4536C>A (p.Asp1512Glu)
|
|
|
NM_000540.3(RYR1):c.4537_4540dup (p.Val1514fs)
|
|
|
NM_000540.3(RYR1):c.4540G>T (p.Val1514Phe)
|
|
|
NM_000540.3(RYR1):c.4544T>A (p.Ile1515Asn)
|
|
|
NM_000540.3(RYR1):c.4547G>A (p.Gly1516Glu)
|
|
|
NM_000540.3(RYR1):c.4550G>A (p.Cys1517Tyr)
|
|
|
NM_000540.3(RYR1):c.4550G>T (p.Cys1517Phe)
|
rs1321260327
|
|
NM_000540.3(RYR1):c.4553T>A (p.Leu1518Gln)
|
|
|
NM_000540.3(RYR1):c.4555G>A (p.Val1519Met)
|
|
|
NM_000540.3(RYR1):c.455C>A (p.Ala152Asp)
|
rs1555763641
|
|
NM_000540.3(RYR1):c.4563_4574del (p.Ala1522_Leu1525del)
|
|
|
NM_000540.3(RYR1):c.4571G>A (p.Gly1524Asp)
|
rs1968859372
|
|
NM_000540.3(RYR1):c.4582T>A (p.Phe1528Ile)
|
|
|
NM_000540.3(RYR1):c.4582T>C (p.Phe1528Leu)
|
rs1568476341
|
|
NM_000540.3(RYR1):c.4588G>A (p.Ala1530Thr)
|
|
|
NM_000540.3(RYR1):c.4589C>G (p.Ala1530Gly)
|
|
|
NM_000540.3(RYR1):c.4591A>G (p.Asn1531Asp)
|
|
|
NM_000540.3(RYR1):c.4592A>G (p.Asn1531Ser)
|
rs1968860939
|
|
NM_000540.3(RYR1):c.45G>A (p.Thr15=)
|
|
|
NM_000540.3(RYR1):c.46-4G>A
|
rs201094741
|
|
NM_000540.3(RYR1):c.46-4_46-3delinsAT
|
|
|
NM_000540.3(RYR1):c.4604G>A (p.Ser1535Asn)
|
|
|
NM_000540.3(RYR1):c.4609A>G (p.Thr1537Ala)
|
|
|
NM_000540.3(RYR1):c.4613T>C (p.Phe1538Ser)
|
|
|
NM_000540.3(RYR1):c.4621-9C>G
|
|
|
NM_000540.3(RYR1):c.4621-9_4621-7del
|
rs1413000730
|
|
NM_000540.3(RYR1):c.4623G>A (p.Val1541=)
|
|
|
NM_000540.3(RYR1):c.4627C>G (p.Pro1543Ala)
|
rs2145527385
|
|
NM_000540.3(RYR1):c.4633_4634del (p.Asn1544_Thr1545insTer)
|
|
|
NM_000540.3(RYR1):c.4634C>G (p.Thr1545Ser)
|
|
|
NM_000540.3(RYR1):c.4634C>T (p.Thr1545Ile)
|
|
|
NM_000540.3(RYR1):c.4642T>C (p.Phe1548Leu)
|
|
|
NM_000540.3(RYR1):c.4648G>A (p.Ala1550Thr)
|
|
|
NM_000540.3(RYR1):c.4651G>A (p.Val1551Ile)
|
|
|
NM_000540.3(RYR1):c.4664C>T (p.Pro1555Leu)
|
rs1600760832
|
|
NM_000540.3(RYR1):c.4667C>T (p.Thr1556Ile)
|
|
|
NM_000540.3(RYR1):c.4676A>T (p.Asn1559Ile)
|
rs1969094075
|
|
NM_000540.3(RYR1):c.467G>A (p.Arg156Lys)
|
rs193922751
|
|
NM_000540.3(RYR1):c.4682T>A (p.Ile1561Asn)
|
rs1057518453
|
|
NM_000540.3(RYR1):c.4686G>T (p.Gln1562His)
|
|
|
NM_000540.3(RYR1):c.4691A>C (p.Glu1564Ala)
|
|
|
NM_000540.3(RYR1):c.4692G>C (p.Glu1564Asp)
|
|
|
NM_000540.3(RYR1):c.4697G>A (p.Gly1566Glu)
|
|
|
NM_000540.3(RYR1):c.4707+4C>A
|
|
|
NM_000540.3(RYR1):c.4707+4C>G
|
|
|
NM_000540.3(RYR1):c.4708-14C>G
|
|
|
NM_000540.3(RYR1):c.4708-5C>G
|
|
|
NM_000540.3(RYR1):c.4717C>G (p.Pro1573Ala)
|
|
|
NM_000540.3(RYR1):c.4717C>T (p.Pro1573Ser)
|
rs1131691497
|
|
NM_000540.3(RYR1):c.471T>A (p.Ser157=)
|
|
|
NM_000540.3(RYR1):c.4724C>T (p.Ser1575Leu)
|
|
|
NM_000540.3(RYR1):c.4727C>T (p.Ala1576Val)
|
|
|
NM_000540.3(RYR1):c.4731C>T (p.Ala1577=)
|
|
|
NM_000540.3(RYR1):c.4733T>G (p.Met1578Arg)
|
rs2145528779
|
|
NM_000540.3(RYR1):c.4734G>A (p.Met1578Ile)
|
|
|
NM_000540.3(RYR1):c.4748G>T (p.Arg1583Leu)
|
rs778411704
|
|
NM_000540.3(RYR1):c.4756C>T (p.Pro1586Ser)
|
|
|
NM_000540.3(RYR1):c.4759G>C (p.Ala1587Pro)
|
|
|
NM_000540.3(RYR1):c.475G>A (p.Gly159Arg)
|
rs1555763657
|
|
NM_000540.3(RYR1):c.4765C>A (p.Gln1589Lys)
|
|
|
NM_000540.3(RYR1):c.4775C>A (p.Pro1592Gln)
|
rs193922777
|
|
NM_000540.3(RYR1):c.4778G>A (p.Arg1593Gln)
|
|
|
NM_000540.3(RYR1):c.4780C>G (p.Leu1594Val)
|
|
|
NM_000540.3(RYR1):c.4791G>C (p.Gln1597His)
|
|
|
NM_000540.3(RYR1):c.4792A>G (p.Met1598Val)
|
rs2145529267
|
|
NM_000540.3(RYR1):c.4792A>T (p.Met1598Leu)
|
|
|
NM_000540.3(RYR1):c.4794G>T (p.Met1598Ile)
|
rs768798878
|
|
NM_000540.3(RYR1):c.4799T>C (p.Met1600Thr)
|
|
|
NM_000540.3(RYR1):c.479A>C (p.Glu160Ala)
|
rs193922752
|
|
NM_000540.3(RYR1):c.479A>G (p.Glu160Gly)
|
rs193922752
|
|
NM_000540.3(RYR1):c.47A>G (p.Asp16Gly)
|
|
|
NM_000540.3(RYR1):c.4801C>A (p.Pro1601Thr)
|
|
|
NM_000540.3(RYR1):c.4802C>T (p.Pro1601Leu)
|
|
|
NM_000540.3(RYR1):c.4808C>T (p.Ser1603Phe)
|
|
|
NM_000540.3(RYR1):c.4816C>A (p.Arg1606Ser)
|
rs774316371
|
|
NM_000540.3(RYR1):c.4821G>C (p.Met1607Ile)
|
|
|
NM_000540.3(RYR1):c.4826A>G (p.Asn1609Ser)
|
|
|
NM_000540.3(RYR1):c.4831T>G (p.Phe1611Val)
|
|
|
NM_000540.3(RYR1):c.4833C>A (p.Phe1611Leu)
|
rs1969115421
|
|
NM_000540.3(RYR1):c.4840G>A (p.Val1614Met)
|
|
|
NM_000540.3(RYR1):c.4842G>A (p.Val1614=)
|
|
|
NM_000540.3(RYR1):c.4846A>C (p.Thr1616Pro)
|
rs2145529610
|
|
NM_000540.3(RYR1):c.4860C>T (p.Gly1620=)
|
|
|
NM_000540.3(RYR1):c.4861G>A (p.Glu1621Lys)
|
rs1398897130
|
|
NM_000540.3(RYR1):c.4862A>C (p.Glu1621Ala)
|
|
|
NM_000540.3(RYR1):c.4864C>T (p.Arg1622Trp)
|
rs756481315
|
|
NM_000540.3(RYR1):c.4875G>C (p.Trp1625Cys)
|
|
|
NM_000540.3(RYR1):c.4878C>T (p.Ala1626=)
|
rs369466056
|
|
NM_000540.3(RYR1):c.487C>A (p.Arg163Ser)
|
rs118192161
|
|
NM_000540.3(RYR1):c.4903A>T (p.Met1635Leu)
|
|
|
NM_000540.3(RYR1):c.4907T>A (p.Met1636Lys)
|
rs1969121315
|
|
NM_000540.3(RYR1):c.4908G>A (p.Met1636Ile)
|
|
|
NM_000540.3(RYR1):c.490G>A (p.Val164Ile)
|
|
|
NM_000540.3(RYR1):c.490G>T (p.Val164Phe)
|
rs776807425
|
|
NM_000540.3(RYR1):c.4915C>T (p.His1639Tyr)
|
rs1969121916
|
|
NM_000540.3(RYR1):c.4917C>G (p.His1639Gln)
|
|
|
NM_000540.3(RYR1):c.4933C>T (p.Arg1645Trp)
|
|
|
NM_000540.3(RYR1):c.4934+5G>C
|
|
|
NM_000540.3(RYR1):c.4935-1G>C
|
|
|
NM_000540.3(RYR1):c.4939A>G (p.Met1647Val)
|
|
|
NM_000540.3(RYR1):c.493G>A (p.Gly165Arg)
|
rs193922754
|
|
NM_000540.3(RYR1):c.4940T>C (p.Met1647Thr)
|
|
|
NM_000540.3(RYR1):c.4945A>G (p.Ile1649Val)
|
|
|
NM_000540.3(RYR1):c.4949T>C (p.Leu1650Pro)
|
|
|
NM_000540.3(RYR1):c.4953G>C (p.Glu1651Asp)
|
|
|
NM_000540.3(RYR1):c.4958C>G (p.Ser1653Trp)
|
|
|
NM_000540.3(RYR1):c.4963C>A (p.Arg1655Ser)
|
|
|
NM_000540.3(RYR1):c.4964G>T (p.Arg1655Leu)
|
rs781159223
|
|
NM_000540.3(RYR1):c.496G>A (p.Asp166Asn)
|
rs193922755
|
|
NM_000540.3(RYR1):c.4976A>G (p.Gln1659Arg)
|
|
|
NM_000540.3(RYR1):c.497A>G (p.Asp166Gly)
|
rs193922756
|
|
NM_000540.3(RYR1):c.4985A>G (p.His1662Arg)
|
rs1969242394
|
|
NM_000540.3(RYR1):c.4988C>G (p.Ser1663Trp)
|
|
|
NM_000540.3(RYR1):c.4990C>T (p.His1664Tyr)
|
|
|
NM_000540.3(RYR1):c.4998_4999delinsAA (p.Arg1667Ser)
|
|
|
NM_000540.3(RYR1):c.4999C>A (p.Arg1667Ser)
|
|
|
NM_000540.3(RYR1):c.5002C>T (p.Leu1668Phe)
|
|
|
NM_000540.3(RYR1):c.5002_5028del (p.Leu1668_Gly1676del)
|
rs751866564
|
|
NM_000540.3(RYR1):c.5005T>C (p.Tyr1669His)
|
|
|
NM_000540.3(RYR1):c.5008C>T (p.Arg1670Cys)
|
rs1182258955
|
|
NM_000540.3(RYR1):c.5011G>A (p.Ala1671Thr)
|
rs1316064829
|
|
NM_000540.3(RYR1):c.5011G>T (p.Ala1671Ser)
|
|
|
NM_000540.3(RYR1):c.5015T>A (p.Val1672Glu)
|
|
|
NM_000540.3(RYR1):c.5015T>C (p.Val1672Ala)
|
|
|
NM_000540.3(RYR1):c.5017T>C (p.Cys1673Arg)
|
rs1568484165
|
|
NM_000540.3(RYR1):c.5017T>G (p.Cys1673Gly)
|
|
|
NM_000540.3(RYR1):c.5024T>C (p.Leu1675Pro)
|
rs2145542250
|
|
NM_000540.3(RYR1):c.5025G>C (p.Leu1675=)
|
rs886054388
|
|
NM_000540.3(RYR1):c.5027G>A (p.Gly1676Asp)
|
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NM_000540.3(RYR1):c.502A>G (p.Ile168Val)
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NM_000540.3(RYR1):c.5042C>A (p.Ala1681Glu)
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NM_000540.3(RYR1):c.5042C>T (p.Ala1681Val)
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rs1032892846
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NM_000540.3(RYR1):c.5044C>A (p.His1682Asn)
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rs748851710
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NM_000540.3(RYR1):c.5048C>T (p.Ala1683Val)
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NM_000540.3(RYR1):c.5055C>G (p.Cys1685Trp)
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rs761393058
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NM_000540.3(RYR1):c.5062G>A (p.Val1688Ile)
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NM_000540.3(RYR1):c.5065G>C (p.Asp1689His)
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NM_000540.3(RYR1):c.506T>G (p.Ile169Ser)
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NM_000540.3(RYR1):c.5087C>G (p.Ala1696Gly)
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NM_000540.3(RYR1):c.5093A>C (p.Glu1698Ala)
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NM_000540.3(RYR1):c.5095G>T (p.Asp1699Tyr)
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NM_000540.3(RYR1):c.5096A>G (p.Asp1699Gly)
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NM_000540.3(RYR1):c.5096_5097delinsGA (p.Asp1699Gly)
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NM_000540.3(RYR1):c.5101C>T (p.His1701Tyr)
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NM_000540.3(RYR1):c.5107C>T (p.Pro1703Ser)
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NM_000540.3(RYR1):c.5121C>T (p.Arg1707=)
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rs749086771
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NM_000540.3(RYR1):c.5127C>T (p.Gly1709=)
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NM_000540.3(RYR1):c.5129A>T (p.Tyr1710Phe)
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NM_000540.3(RYR1):c.5132A>C (p.Tyr1711Ser)
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rs754785770
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NM_000540.3(RYR1):c.5134G>A (p.Asp1712Asn)
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rs2145543035
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NM_000540.3(RYR1):c.5147G>C (p.Ser1716Thr)
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NM_000540.3(RYR1):c.514_519del (p.171VS[1])
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rs794727779
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NM_000540.3(RYR1):c.5150T>G (p.Ile1717Ser)
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rs1568484483
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NM_000540.3(RYR1):c.5158G>A (p.Glu1720Lys)
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NM_000540.3(RYR1):c.5159A>G (p.Glu1720Gly)
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NM_000540.3(RYR1):c.5164G>A (p.Ala1722Thr)
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NM_000540.3(RYR1):c.5170C>G (p.Arg1724Gly)
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NM_000540.3(RYR1):c.5171G>A (p.Arg1724His)
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NM_000540.3(RYR1):c.5176C>T (p.Arg1726Cys)
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NM_000540.3(RYR1):c.5177G>A (p.Arg1726His)
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NM_000540.3(RYR1):c.5179C>G (p.Arg1727Gly)
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rs764448031
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NM_000540.3(RYR1):c.5179C>T (p.Arg1727Cys)
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NM_000540.3(RYR1):c.5180G>A (p.Arg1727His)
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NM_000540.3(RYR1):c.5180G>T (p.Arg1727Leu)
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NM_000540.3(RYR1):c.5186T>G (p.Met1729Arg)
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rs193922782
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NM_000540.3(RYR1):c.5189T>C (p.Leu1730Pro)
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NM_000540.3(RYR1):c.518T>C (p.Val173Ala)
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rs763950469
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NM_000540.3(RYR1):c.5191T>C (p.Ser1731Pro)
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NM_000540.3(RYR1):c.5195A>C (p.Glu1732Ala)
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rs1969259923
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NM_000540.3(RYR1):c.5196A>T (p.Glu1732Asp)
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rs2145543462
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NM_000540.3(RYR1):c.51_53del (p.Asp17del)
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rs193922745
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NM_000540.3(RYR1):c.5203G>A (p.Val1735Met)
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NM_000540.3(RYR1):c.5206C>A (p.Pro1736Thr)
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NM_000540.3(RYR1):c.5206C>G (p.Pro1736Ala)
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NM_000540.3(RYR1):c.5206C>T (p.Pro1736Ser)
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NM_000540.3(RYR1):c.5207C>T (p.Pro1736Leu)
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NM_000540.3(RYR1):c.5218G>A (p.Glu1740Lys)
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NM_000540.3(RYR1):c.5222C>T (p.Thr1741Ile)
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NM_000540.3(RYR1):c.5225G>A (p.Arg1742His)
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NM_000540.3(RYR1):c.5227G>A (p.Ala1743Thr)
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NM_000540.3(RYR1):c.5227G>T (p.Ala1743Ser)
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NM_000540.3(RYR1):c.5228C>A (p.Ala1743Asp)
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NM_000540.3(RYR1):c.5230A>G (p.Ile1744Val)
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rs2145543717
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NM_000540.3(RYR1):c.5232C>G (p.Ile1744Met)
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NM_000540.3(RYR1):c.5234C>G (p.Thr1745Arg)
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rs377476955
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NM_000540.3(RYR1):c.5234C>T (p.Thr1745Met)
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NM_000540.3(RYR1):c.5236C>T (p.Leu1746Phe)
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NM_000540.3(RYR1):c.5242C>T (p.Pro1748Ser)
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NM_000540.3(RYR1):c.5243C>G (p.Pro1748Arg)
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NM_000540.3(RYR1):c.5246C>T (p.Pro1749Leu)
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NM_000540.3(RYR1):c.5256C>A (p.Ser1752Arg)
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NM_000540.3(RYR1):c.5257A>G (p.Thr1753Ala)
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NM_000540.3(RYR1):c.5258C>T (p.Thr1753Ile)
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NM_000540.3(RYR1):c.5266G>T (p.Gly1756Cys)
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NM_000540.3(RYR1):c.5271C>A (p.His1757Gln)
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NM_000540.3(RYR1):c.5273C>G (p.Pro1758Arg)
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NM_000540.3(RYR1):c.5279A>C (p.His1760Pro)
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NM_000540.3(RYR1):c.5279A>T (p.His1760Leu)
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NM_000540.3(RYR1):c.527A>G (p.Glu176Gly)
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rs2145338967
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NM_000540.3(RYR1):c.5281G>A (p.Gly1761Ser)
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NM_000540.3(RYR1):c.5282G>A (p.Gly1761Asp)
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NM_000540.3(RYR1):c.5288C>T (p.Pro1763Leu)
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rs1335007839
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NM_000540.3(RYR1):c.528G>T (p.Glu176Asp)
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rs1568436081
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NM_000540.3(RYR1):c.5297G>C (p.Gly1766Ala)
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NM_000540.3(RYR1):c.52G>A (p.Glu18Lys)
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NM_000540.3(RYR1):c.5303C>T (p.Thr1768Ile)
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NM_000540.3(RYR1):c.5306C>T (p.Thr1769Ile)
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rs1600772418
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NM_000540.3(RYR1):c.5308T>G (p.Ser1770Ala)
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rs571494344
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NM_000540.3(RYR1):c.5309C>T (p.Ser1770Leu)
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rs398123472
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NM_000540.3(RYR1):c.530G>A (p.Arg177His)
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NM_000540.3(RYR1):c.5311C>A (p.Leu1771Met)
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rs2145544214
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NM_000540.3(RYR1):c.5311C>G (p.Leu1771Val)
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NM_000540.3(RYR1):c.5315G>A (p.Arg1772Lys)
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NM_000540.3(RYR1):c.5315G>C (p.Arg1772Thr)
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rs1568484843
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NM_000540.3(RYR1):c.5317C>G (p.Pro1773Ala)
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rs192863857
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NM_000540.3(RYR1):c.5318C>G (p.Pro1773Arg)
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rs1969269453
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NM_000540.3(RYR1):c.5322G>A (p.Pro1774=)
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rs572516017
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NM_000540.3(RYR1):c.5325T>G (p.His1775Gln)
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NM_000540.3(RYR1):c.532T>C (p.Tyr178His)
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rs1568436105
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NM_000540.3(RYR1):c.5333C>T (p.Ser1778Leu)
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rs367543055
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NM_000540.3(RYR1):c.5335C>T (p.Pro1779Ser)
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NM_000540.3(RYR1):c.5339C>A (p.Pro1780His)
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NM_000540.3(RYR1):c.5339C>G (p.Pro1780Arg)
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rs369480385
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NM_000540.3(RYR1):c.5339C>T (p.Pro1780Leu)
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NM_000540.3(RYR1):c.533A>C (p.Tyr178Ser)
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rs193922758
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NM_000540.3(RYR1):c.5340del (p.Cys1781fs)
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NM_000540.3(RYR1):c.5340dup (p.Cys1781fs)
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rs1969271215
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NM_000540.3(RYR1):c.5347G>A (p.Val1783Met)
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rs375160141
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NM_000540.3(RYR1):c.5347G>T (p.Val1783Leu)
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NM_000540.3(RYR1):c.5351C>A (p.Ala1784Asp)
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NM_000540.3(RYR1):c.5352C>A (p.Ala1784=)
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rs373382967
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NM_000540.3(RYR1):c.537+12C>A
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rs779869638
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NM_000540.3(RYR1):c.5374G>A (p.Ala1792Thr)
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NM_000540.3(RYR1):c.538-3C>G
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NM_000540.3(RYR1):c.5387C>A (p.Ala1796Asp)
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NM_000540.3(RYR1):c.5389C>T (p.Arg1797Cys)
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NM_000540.3(RYR1):c.5390G>A (p.Arg1797His)
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rs2145544735
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NM_000540.3(RYR1):c.5398C>T (p.Pro1800Ser)
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rs2145544772
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NM_000540.3(RYR1):c.5408C>T (p.Pro1803Leu)
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NM_000540.3(RYR1):c.5413G>A (p.Glu1805Lys)
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NM_000540.3(RYR1):c.5416G>A (p.Ala1806Thr)
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NM_000540.3(RYR1):c.5423G>A (p.Arg1808Gln)
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NM_000540.3(RYR1):c.5425G>A (p.Asp1809Asn)
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NM_000540.3(RYR1):c.5427C>G (p.Asp1809Glu)
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NM_000540.3(RYR1):c.5431G>T (p.Ala1811Ser)
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NM_000540.3(RYR1):c.5435T>C (p.Leu1812Pro)
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rs1969278145
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NM_000540.3(RYR1):c.5438G>A (p.Arg1813Lys)
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NM_000540.3(RYR1):c.5438G>T (p.Arg1813Met)
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rs886054389
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NM_000540.3(RYR1):c.5440A>G (p.Met1814Val)
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rs2145545032
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NM_000540.3(RYR1):c.5441T>A (p.Met1814Lys)
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rs193922783
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NM_000540.3(RYR1):c.5442G>A (p.Met1814Ile)
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NM_000540.3(RYR1):c.5444T>C (p.Leu1815Pro)
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NM_000540.3(RYR1):c.5444T>G (p.Leu1815Arg)
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NM_000540.3(RYR1):c.5453C>T (p.Ala1818Val)
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NM_000540.3(RYR1):c.5458C>T (p.Arg1820Cys)
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NM_000540.3(RYR1):c.5459G>A (p.Arg1820His)
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NM_000540.3(RYR1):c.545C>G (p.Ser182Trp)
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NM_000540.3(RYR1):c.545C>T (p.Ser182Leu)
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NM_000540.3(RYR1):c.5464G>A (p.Gly1822Ser)
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rs1169294876
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NM_000540.3(RYR1):c.5465G>A (p.Gly1822Asp)
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NM_000540.3(RYR1):c.5468G>A (p.Gly1823Glu)
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NM_000540.3(RYR1):c.5468G>C (p.Gly1823Ala)
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NM_000540.3(RYR1):c.5471A>C (p.Gln1824Pro)
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NM_000540.3(RYR1):c.5473C>A (p.His1825Asn)
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NM_000540.3(RYR1):c.5480G>A (p.Arg1827His)
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NM_000540.3(RYR1):c.5482G>A (p.Asp1828Asn)
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NM_000540.3(RYR1):c.5485C>A (p.Pro1829Thr)
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NM_000540.3(RYR1):c.5487del (p.Val1830fs)
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rs887506743
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NM_000540.3(RYR1):c.5488G>T (p.Val1830Phe)
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NM_000540.3(RYR1):c.5491G>A (p.Gly1831Arg)
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NM_000540.3(RYR1):c.5492G>C (p.Gly1831Ala)
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rs1290969196
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NM_000540.3(RYR1):c.5498C>T (p.Ser1833Phe)
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NM_000540.3(RYR1):c.5503G>A (p.Glu1835Lys)
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rs1600773722
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NM_000540.3(RYR1):c.5504A>C (p.Glu1835Ala)
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NM_000540.3(RYR1):c.5506_5507del (p.Phe1836fs)
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NM_000540.3(RYR1):c.5509_5512del (p.Gln1837fs)
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NM_000540.3(RYR1):c.550G>T (p.Ala184Ser)
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NM_000540.3(RYR1):c.5513T>C (p.Phe1838Ser)
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NM_000540.3(RYR1):c.5517G>T (p.Val1839=)
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NM_000540.3(RYR1):c.5525T>C (p.Leu1842Pro)
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rs886054390
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NM_000540.3(RYR1):c.5528A>T (p.Lys1843Met)
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NM_000540.3(RYR1):c.5529G>C (p.Lys1843Asn)
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NM_000540.3(RYR1):c.5529G>T (p.Lys1843Asn)
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NM_000540.3(RYR1):c.5533G>C (p.Val1845Leu)
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rs926669024
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NM_000540.3(RYR1):c.5537C>T (p.Ser1846Phe)
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NM_000540.3(RYR1):c.5540C>A (p.Thr1847Asn)
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rs1456354042
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NM_000540.3(RYR1):c.5545C>T (p.Leu1849=)
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NM_000540.3(RYR1):c.5546T>C (p.Leu1849Pro)
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NM_000540.3(RYR1):c.5548G>A (p.Val1850Met)
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NM_000540.3(RYR1):c.554G>C (p.Ser185Thr)
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NM_000540.3(RYR1):c.5551A>T (p.Met1851Leu)
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NM_000540.3(RYR1):c.5557A>C (p.Ile1853Leu)
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NM_000540.3(RYR1):c.5559C>G (p.Ile1853Met)
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NM_000540.3(RYR1):c.5567A>G (p.Asp1856Gly)
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NM_000540.3(RYR1):c.556G>A (p.Gly186Arg)
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NM_000540.3(RYR1):c.556G>C (p.Gly186Arg)
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NM_000540.3(RYR1):c.5570A>G (p.Glu1857Gly)
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NM_000540.3(RYR1):c.5573A>T (p.Asp1858Val)
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NM_000540.3(RYR1):c.557G>A (p.Gly186Glu)
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NM_000540.3(RYR1):c.5581C>G (p.Gln1861Glu)
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rs2145558294
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NM_000540.3(RYR1):c.5584A>C (p.Ile1862Leu)
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rs886054391
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NM_000540.3(RYR1):c.5584A>G (p.Ile1862Val)
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NM_000540.3(RYR1):c.5584A>T (p.Ile1862Phe)
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NM_000540.3(RYR1):c.5585T>C (p.Ile1862Thr)
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NM_000540.3(RYR1):c.559G>A (p.Glu187Lys)
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rs1014768250
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NM_000540.3(RYR1):c.5602C>T (p.Pro1868Ser)
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NM_000540.3(RYR1):c.5607G>T (p.Glu1869Asp)
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rs1043076830
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NM_000540.3(RYR1):c.5608G>A (p.Val1870Ile)
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rs1027874000
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NM_000540.3(RYR1):c.5608G>C (p.Val1870Leu)
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NM_000540.3(RYR1):c.5614A>G (p.Thr1872Ala)
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NM_000540.3(RYR1):c.5615C>A (p.Thr1872Asn)
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NM_000540.3(RYR1):c.5617G>A (p.Glu1873Lys)
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NM_000540.3(RYR1):c.5620G>A (p.Glu1874Lys)
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rs1969440508
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NM_000540.3(RYR1):c.5622_5633dup (p.Glu1878_Asp1879insGluGluGluGlu)
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NM_000540.3(RYR1):c.5623G>C (p.Glu1875Gln)
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rs991483787
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NM_000540.3(RYR1):c.5625_5648del (p.Glu1876_Glu1883del)
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NM_000540.3(RYR1):c.5628GGA[2] (p.Glu1878del)
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rs371047178
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NM_000540.3(RYR1):c.5632G>A (p.Glu1878Lys)
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NM_000540.3(RYR1):c.5635G>A (p.Asp1879Asn)
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NM_000540.3(RYR1):c.5638G>C (p.Glu1880Gln)
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rs777733662
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NM_000540.3(RYR1):c.5640G>T (p.Glu1880Asp)
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NM_000540.3(RYR1):c.5643G>C (p.Glu1881Asp)
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NM_000540.3(RYR1):c.5650G>A (p.Gly1884Ser)
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rs776093828
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NM_000540.3(RYR1):c.5651G>A (p.Gly1884Asp)
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NM_000540.3(RYR1):c.5655A>G (p.Glu1885=)
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NM_000540.3(RYR1):c.5656G>A (p.Glu1886Lys)
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NM_000540.3(RYR1):c.5657A>C (p.Glu1886Ala)
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NM_000540.3(RYR1):c.5661_5669del (p.Asp1888_Glu1890del)
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NM_000540.3(RYR1):c.5661_5681dup (p.Glu1898_Thr1899insLysGluGluAspGluGluGlu)
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NM_000540.3(RYR1):c.5662G>A (p.Asp1888Asn)
|
rs2145558689
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NM_000540.3(RYR1):c.5663A>T (p.Asp1888Val)
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NM_000540.3(RYR1):c.5666A>G (p.Glu1889Gly)
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NM_000540.3(RYR1):c.5670_5720dup (p.Glu1907_Lys1908insGluLysGluGluAspGluGluGluThrAlaGlnGluLysGluAspGluGlu)
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NM_000540.3(RYR1):c.5673G>C (p.Glu1891Asp)
|
|
|
NM_000540.3(RYR1):c.5674A>G (p.Lys1892Glu)
|
|
|
NM_000540.3(RYR1):c.5674_5676del (p.Lys1892del)
|
rs587784377
|
|
NM_000540.3(RYR1):c.5676GGA[2] (p.Glu1894del)
|
|
|
NM_000540.3(RYR1):c.5680G>A (p.Glu1894Lys)
|
rs1568488417
|
|
NM_000540.3(RYR1):c.5686G>A (p.Glu1896Lys)
|
|
|
NM_000540.3(RYR1):c.5688GGA[1] (p.Glu1898del)
|
rs772076294
|
|
NM_000540.3(RYR1):c.568G>A (p.Val190Ile)
|
|
|
NM_000540.3(RYR1):c.5690A>T (p.Glu1897Val)
|
|
|
NM_000540.3(RYR1):c.5691_5720del (p.Glu1898_Glu1907del)
|
|
|
NM_000540.3(RYR1):c.5696C>G (p.Thr1899Arg)
|
rs1969447091
|
|
NM_000540.3(RYR1):c.5699C>T (p.Ala1900Val)
|
|
|
NM_000540.3(RYR1):c.56T>C (p.Val19Ala)
|
|
|
NM_000540.3(RYR1):c.5708A>C (p.Lys1903Thr)
|
rs1600784403
|
|
NM_000540.3(RYR1):c.5713G>T (p.Asp1905Tyr)
|
|
|
NM_000540.3(RYR1):c.5714A>G (p.Asp1905Gly)
|
rs2145559025
|
|
NM_000540.3(RYR1):c.5723A>G (p.Lys1908Arg)
|
|
|
NM_000540.3(RYR1):c.5726A>T (p.Glu1909Val)
|
|
|
NM_000540.3(RYR1):c.5731G>A (p.Glu1911Lys)
|
|
|
NM_000540.3(RYR1):c.5736G>A (p.Glu1912=)
|
rs753416949
|
|
NM_000540.3(RYR1):c.5738CAG[1] (p.Ala1914del)
|
|
|
NM_000540.3(RYR1):c.573C>G (p.Asp191Glu)
|
|
|
NM_000540.3(RYR1):c.5744A>C (p.Glu1915Ala)
|
|
|
NM_000540.3(RYR1):c.5749G>T (p.Glu1917Ter)
|
rs781075511
|
|
NM_000540.3(RYR1):c.5755G>A (p.Glu1919Lys)
|
|
|
NM_000540.3(RYR1):c.5758G>A (p.Glu1920Lys)
|
|
|
NM_000540.3(RYR1):c.5759A>G (p.Glu1920Gly)
|
|
|
NM_000540.3(RYR1):c.5760A>C (p.Glu1920Asp)
|
|
|
NM_000540.3(RYR1):c.5779C>G (p.Leu1927Val)
|
|
|
NM_000540.3(RYR1):c.5791T>G (p.Leu1931Val)
|
|
|
NM_000540.3(RYR1):c.5795C>T (p.Pro1932Leu)
|
|
|
NM_000540.3(RYR1):c.5806A>C (p.Lys1936Gln)
|
|
|
NM_000540.3(RYR1):c.5807A>T (p.Lys1936Met)
|
rs2145559378
|
|
NM_000540.3(RYR1):c.5815-17C>G
|
|
|
NM_000540.3(RYR1):c.5816T>A (p.Met1939Lys)
|
rs1568489098
|
|
NM_000540.3(RYR1):c.5817G>T (p.Met1939Ile)
|
|
|
NM_000540.3(RYR1):c.5821C>T (p.His1941Tyr)
|
|
|
NM_000540.3(RYR1):c.5823C>A (p.His1941Gln)
|
|
|
NM_000540.3(RYR1):c.5833T>G (p.Tyr1945Asp)
|
rs1258307067
|
|
NM_000540.3(RYR1):c.5845C>T (p.Gln1949Ter)
|
|
|
NM_000540.3(RYR1):c.5848G>C (p.Glu1950Gln)
|
|
|
NM_000540.3(RYR1):c.5849A>T (p.Glu1950Val)
|
|
|
NM_000540.3(RYR1):c.584T>G (p.Met195Arg)
|
|
|
NM_000540.3(RYR1):c.5852T>G (p.Leu1951Arg)
|
rs2145561863
|
|
NM_000540.3(RYR1):c.5861G>A (p.Arg1954His)
|
|
|
NM_000540.3(RYR1):c.5872C>G (p.Leu1958Val)
|
|
|
NM_000540.3(RYR1):c.5879C>T (p.Ala1960Val)
|
|
|
NM_000540.3(RYR1):c.5890C>T (p.Arg1964Cys)
|
rs145801146
|
|
NM_000540.3(RYR1):c.5891G>T (p.Arg1964Leu)
|
rs767487116
|
|
NM_000540.3(RYR1):c.5894A>C (p.Tyr1965Ser)
|
rs1969487142
|
|
NM_000540.3(RYR1):c.5897T>A (p.Val1966Glu)
|
|
|
NM_000540.3(RYR1):c.58G>A (p.Val20Ile)
|
|
|
NM_000540.3(RYR1):c.5909A>G (p.Gln1970Arg)
|
|
|
NM_000540.3(RYR1):c.5910G>A (p.Gln1970=)
|
rs1555780327
|
|
NM_000540.3(RYR1):c.5910G>C (p.Gln1970His)
|
rs1555780327
|
|
NM_000540.3(RYR1):c.5912C>T (p.Ala1971Val)
|
|
|
NM_000540.3(RYR1):c.5924G>C (p.Ser1975Thr)
|
rs1969488865
|
|
NM_000540.3(RYR1):c.5925C>A (p.Ser1975Arg)
|
|
|
NM_000540.3(RYR1):c.5927G>A (p.Arg1976His)
|
rs771545581
|
|
NM_000540.3(RYR1):c.5941A>G (p.Ile1981Val)
|
|
|
NM_000540.3(RYR1):c.5950T>C (p.Phe1984Leu)
|
|
|
NM_000540.3(RYR1):c.5954G>A (p.Ser1985Asn)
|
|
|
NM_000540.3(RYR1):c.5954G>C (p.Ser1985Thr)
|
rs1441012614
|
|
NM_000540.3(RYR1):c.5955C>T (p.Ser1985=)
|
|
|
NM_000540.3(RYR1):c.5956A>G (p.Met1986Val)
|
|
|
NM_000540.3(RYR1):c.5978G>A (p.Arg1993Lys)
|
|
|
NM_000540.3(RYR1):c.5980C>G (p.Arg1994Gly)
|
rs369167120
|
|
NM_000540.3(RYR1):c.5981G>C (p.Arg1994Pro)
|
|
|
NM_000540.3(RYR1):c.5989G>A (p.Glu1997Lys)
|
rs1366464512
|
|
NM_000540.3(RYR1):c.5994C>A (p.Phe1998Leu)
|
rs2145562591
|
|
NM_000540.3(RYR1):c.5995C>T (p.Arg1999Cys)
|
rs767508472
|
|
NM_000540.3(RYR1):c.5996G>A (p.Arg1999His)
|
rs1600787474
|
|
NM_000540.3(RYR1):c.5G>A (p.Gly2Asp)
|
|
|
NM_000540.3(RYR1):c.5G>C (p.Gly2Ala)
|
rs886054378
|
|
NM_000540.3(RYR1):c.6002C>G (p.Pro2001Arg)
|
rs760559322
|
|
NM_000540.3(RYR1):c.6008A>G (p.Gln2003Arg)
|
|
|
NM_000540.3(RYR1):c.6010G>C (p.Glu2004Gln)
|
|
|
NM_000540.3(RYR1):c.6016-5C>A
|
|
|
NM_000540.3(RYR1):c.601A>G (p.Met201Val)
|
rs1972851843
|
|
NM_000540.3(RYR1):c.6023T>A (p.Met2008Lys)
|
|
|
NM_000540.3(RYR1):c.6023T>C (p.Met2008Thr)
|
rs199947661
|
|
NM_000540.3(RYR1):c.6027A>G (p.Leu2009=)
|
rs2145564113
|
|
NM_000540.3(RYR1):c.6031C>T (p.Gln2011Ter)
|
rs1385985785
|
|
NM_000540.3(RYR1):c.6037A>C (p.Lys2013Gln)
|
rs2145564171
|
|
NM_000540.3(RYR1):c.6038A>G (p.Lys2013Arg)
|
|
|
NM_000540.3(RYR1):c.6049G>C (p.Asp2017His)
|
|
|
NM_000540.3(RYR1):c.6050del (p.Asp2017fs)
|
|
|
NM_000540.3(RYR1):c.6052G>C (p.Glu2018Gln)
|
rs879255343
|
|
NM_000540.3(RYR1):c.6058G>A (p.Asp2020Asn)
|
|
|
NM_000540.3(RYR1):c.605A>G (p.Asn202Ser)
|
|
|
NM_000540.3(RYR1):c.6064C>T (p.Pro2022Ser)
|
|
|
NM_000540.3(RYR1):c.6065C>G (p.Pro2022Arg)
|
|
|
NM_000540.3(RYR1):c.6071C>T (p.Pro2024Leu)
|
rs2145564410
|
|
NM_000540.3(RYR1):c.6078G>T (p.Glu2026Asp)
|
|
|
NM_000540.3(RYR1):c.6082C>G (p.Arg2028Gly)
|
rs773540275
|
|
NM_000540.3(RYR1):c.6083G>A (p.Arg2028Gln)
|
|
|
NM_000540.3(RYR1):c.608C>G (p.Pro203Arg)
|
|
|
NM_000540.3(RYR1):c.6093G>T (p.Leu2031Phe)
|
|
|
NM_000540.3(RYR1):c.6121C>T (p.His2041Tyr)
|
|
|
NM_000540.3(RYR1):c.6123C>G (p.His2041Gln)
|
|
|
NM_000540.3(RYR1):c.6126_6127del (p.Cys2042fs)
|
|
|
NM_000540.3(RYR1):c.6128-13T>G
|
rs1969594703
|
|
NM_000540.3(RYR1):c.6128-1G>A
|
|
|
NM_000540.3(RYR1):c.6138A>G (p.Leu2046=)
|
rs551228795
|
|
NM_000540.3(RYR1):c.613T>C (p.Cys205Arg)
|
|
|
NM_000540.3(RYR1):c.6140A>T (p.Asp2047Val)
|
|
|
NM_000540.3(RYR1):c.6150G>A (p.Glu2050=)
|
rs727504131
|
|
NM_000540.3(RYR1):c.6167A>G (p.Glu2056Gly)
|
|
|
NM_000540.3(RYR1):c.6169A>G (p.Thr2057Ala)
|
|
|
NM_000540.3(RYR1):c.6170C>A (p.Thr2057Asn)
|
|
|
NM_000540.3(RYR1):c.6170C>T (p.Thr2057Ile)
|
rs1449491974
|
|
NM_000540.3(RYR1):c.6185G>A (p.Arg2062His)
|
|
|
NM_000540.3(RYR1):c.6191T>C (p.Met2064Thr)
|
|
|
NM_000540.3(RYR1):c.6191T>G (p.Met2064Arg)
|
rs200388510
|
|
NM_000540.3(RYR1):c.6192G>A (p.Met2064Ile)
|
rs372066850
|
|
NM_000540.3(RYR1):c.6192G>C (p.Met2064Ile)
|
|
|
NM_000540.3(RYR1):c.6194G>A (p.Ser2065Asn)
|
|
|
NM_000540.3(RYR1):c.6203A>G (p.Glu2068Gly)
|
|
|
NM_000540.3(RYR1):c.6204G>T (p.Glu2068Asp)
|
rs2145570603
|
|
NM_000540.3(RYR1):c.6208G>T (p.Val2070Leu)
|
|
|
NM_000540.3(RYR1):c.6209T>A (p.Val2070Glu)
|
|
|
NM_000540.3(RYR1):c.620G>T (p.Arg207Leu)
|
|
|
NM_000540.3(RYR1):c.6211_6219del (p.Arg2071_Val2073del)
|
|
|
NM_000540.3(RYR1):c.6214C>G (p.Leu2072Val)
|
|
|
NM_000540.3(RYR1):c.6218T>A (p.Val2073Glu)
|
|
|
NM_000540.3(RYR1):c.6220AAG[2] (p.Lys2076del)
|
|
|
NM_000540.3(RYR1):c.6222G>T (p.Lys2074Asn)
|
|
|
NM_000540.3(RYR1):c.6223A>G (p.Lys2075Glu)
|
|
|
NM_000540.3(RYR1):c.6229_6232del (p.Glu2077fs)
|
|
|
NM_000540.3(RYR1):c.6233A>G (p.Glu2078Gly)
|
|
|
NM_000540.3(RYR1):c.6236A>G (p.Lys2079Arg)
|
|
|
NM_000540.3(RYR1):c.6245A>G (p.Glu2082Gly)
|
|
|
NM_000540.3(RYR1):c.6248A>G (p.Glu2083Gly)
|
|
|
NM_000540.3(RYR1):c.6250C>T (p.Arg2084Trp)
|
|
|
NM_000540.3(RYR1):c.6254C>G (p.Ser2085Ter)
|
|
|
NM_000540.3(RYR1):c.6254C>T (p.Ser2085Leu)
|
|
|
NM_000540.3(RYR1):c.6256G>A (p.Ala2086Thr)
|
|
|
NM_000540.3(RYR1):c.6259GAG[1] (p.Glu2088del)
|
rs1969604379
|
|
NM_000540.3(RYR1):c.6261G>C (p.Glu2087Asp)
|
|
|
NM_000540.3(RYR1):c.6262G>A (p.Glu2088Lys)
|
rs587784378
|
|
NM_000540.3(RYR1):c.6265A>G (p.Ser2089Gly)
|
|
|
NM_000540.3(RYR1):c.6267C>A (p.Ser2089Arg)
|
|
|
NM_000540.3(RYR1):c.6267C>G (p.Ser2089Arg)
|
rs768618241
|
|
NM_000540.3(RYR1):c.6271C>A (p.Pro2091Thr)
|
rs1600794989
|
|
NM_000540.3(RYR1):c.6271C>T (p.Pro2091Ser)
|
|
|
NM_000540.3(RYR1):c.6272C>A (p.Pro2091His)
|
rs1555781055
|
|
NM_000540.3(RYR1):c.6274+4A>C
|
|
|
NM_000540.3(RYR1):c.6274+5G>A
|
|
|
NM_000540.3(RYR1):c.6274+6G>A
|
|
|
NM_000540.3(RYR1):c.6274+6G>C
|
|
|
NM_000540.3(RYR1):c.6275-11C>G
|
|
|
NM_000540.3(RYR1):c.6279C>A (p.Ser2093=)
|
|
|
NM_000540.3(RYR1):c.6284A>C (p.Gln2095Pro)
|
rs1369035565
|
|
NM_000540.3(RYR1):c.6289C>A (p.Leu2097Met)
|
|
|
NM_000540.3(RYR1):c.6294G>A (p.Val2098=)
|
|
|
NM_000540.3(RYR1):c.6295_6351dup (p.Ser2099_Val2117dup)
|
rs1555781547
|
|
NM_000540.3(RYR1):c.6304G>C (p.Val2102Leu)
|
rs770593660
|
|
NM_000540.3(RYR1):c.6304G>T (p.Val2102Leu)
|
rs770593660
|
|
NM_000540.3(RYR1):c.6305T>A (p.Val2102Glu)
|
|
|
NM_000540.3(RYR1):c.6305del (p.Val2102fs)
|
|
|
NM_000540.3(RYR1):c.6313T>C (p.Trp2105Arg)
|
|
|
NM_000540.3(RYR1):c.6317C>T (p.Ala2106Val)
|
rs1555781571
|
|
NM_000540.3(RYR1):c.6322G>A (p.Glu2108Lys)
|
|
|
NM_000540.3(RYR1):c.6331G>A (p.Val2111Met)
|
|
|
NM_000540.3(RYR1):c.6340C>A (p.Pro2114Thr)
|
|
|
NM_000540.3(RYR1):c.6340_6346del (p.Pro2114fs)
|
|
|
NM_000540.3(RYR1):c.6353G>A (p.Arg2118Gln)
|
|
|
NM_000540.3(RYR1):c.6353G>C (p.Arg2118Pro)
|
rs201649680
|
|
NM_000540.3(RYR1):c.6355G>A (p.Ala2119Thr)
|
|
|
NM_000540.3(RYR1):c.6357C>T (p.Ala2119=)
|
|
|
NM_000540.3(RYR1):c.6358A>G (p.Met2120Val)
|
|
|
NM_000540.3(RYR1):c.6360G>C (p.Met2120Ile)
|
|
|
NM_000540.3(RYR1):c.6361T>G (p.Phe2121Val)
|
|
|
NM_000540.3(RYR1):c.6365G>A (p.Ser2122Asn)
|
|
|
NM_000540.3(RYR1):c.6366C>T (p.Ser2122=)
|
|
|
NM_000540.3(RYR1):c.6373C>T (p.His2125Tyr)
|
rs1600801415
|
|
NM_000540.3(RYR1):c.6376C>G (p.Arg2126Gly)
|
|
|
NM_000540.3(RYR1):c.6376C>T (p.Arg2126Trp)
|
rs1265086155
|
|
NM_000540.3(RYR1):c.637G>C (p.Val213Leu)
|
|
|
NM_000540.3(RYR1):c.637G>T (p.Val213Leu)
|
|
|
NM_000540.3(RYR1):c.6380A>G (p.Gln2127Arg)
|
|
|
NM_000540.3(RYR1):c.6406C>T (p.Arg2136Cys)
|
rs886043937
|
|
NM_000540.3(RYR1):c.640A>G (p.Thr214Ala)
|
rs769650157
|
|
NM_000540.3(RYR1):c.6416C>A (p.Pro2139Gln)
|
|
|
NM_000540.3(RYR1):c.6419G>A (p.Arg2140Gln)
|
|
|
NM_000540.3(RYR1):c.6421G>T (p.Ala2141Ser)
|
rs1064796405
|
|
NM_000540.3(RYR1):c.6425A>G (p.Tyr2142Cys)
|
|
|
NM_000540.3(RYR1):c.6427A>G (p.Thr2143Ala)
|
rs2145578069
|
|
NM_000540.3(RYR1):c.6434C>T (p.Ser2145Leu)
|
|
|
NM_000540.3(RYR1):c.6436C>G (p.Pro2146Ala)
|
|
|
NM_000540.3(RYR1):c.6436C>T (p.Pro2146Ser)
|
|
|
NM_000540.3(RYR1):c.6437C>T (p.Pro2146Leu)
|
|
|
NM_000540.3(RYR1):c.643G>A (p.Gly215Arg)
|
rs1393197844
|
|
NM_000540.3(RYR1):c.6443C>T (p.Ser2148Phe)
|
|
|
NM_000540.3(RYR1):c.644G>A (p.Gly215Glu)
|
rs118192115
|
|
NM_000540.3(RYR1):c.6451G>A (p.Asp2151Asn)
|
rs1555781651
|
|
NM_000540.3(RYR1):c.6458T>A (p.Met2153Lys)
|
|
|
NM_000540.3(RYR1):c.6469G>C (p.Glu2157Gln)
|
|
|
NM_000540.3(RYR1):c.6469del (p.Glu2157fs)
|
|
|
NM_000540.3(RYR1):c.6475C>A (p.Leu2159Ile)
|
rs1568493915
|
|
NM_000540.3(RYR1):c.6478G>C (p.Gly2160Arg)
|
rs143398211
|
|
NM_000540.3(RYR1):c.6479G>T (p.Gly2160Val)
|
rs1969716005
|
|
NM_000540.3(RYR1):c.647G>T (p.Gly216Val)
|
|
|
NM_000540.3(RYR1):c.6481C>T (p.Gln2161Ter)
|
|
|
NM_000540.3(RYR1):c.6482A>T (p.Gln2161Leu)
|
|
|
NM_000540.3(RYR1):c.6491C>T (p.Ser2164Leu)
|
rs1473972613
|
|
NM_000540.3(RYR1):c.6497_6520del (p.Leu2166_Glu2174delinsGln)
|
|
|
NM_000540.3(RYR1):c.6499A>G (p.Ile2167Val)
|
|
|
NM_000540.3(RYR1):c.6502G>C (p.Val2168Leu)
|
|
|
NM_000540.3(RYR1):c.6503T>C (p.Val2168Ala)
|
rs2145578596
|
|
NM_000540.3(RYR1):c.6508A>C (p.Met2170Leu)
|
|
|
NM_000540.3(RYR1):c.6514C>T (p.Pro2172Ser)
|
|
|
NM_000540.3(RYR1):c.6515C>T (p.Pro2172Leu)
|
|
|
NM_000540.3(RYR1):c.6518A>C (p.Gln2173Pro)
|
|
|
NM_000540.3(RYR1):c.6518A>G (p.Gln2173Arg)
|
|
|
NM_000540.3(RYR1):c.6520GAG[1] (p.Glu2175del)
|
|
|
NM_000540.3(RYR1):c.6521A>C (p.Glu2174Ala)
|
rs746226400
|
|
NM_000540.3(RYR1):c.6521A>T (p.Glu2174Val)
|
|
|
NM_000540.3(RYR1):c.6529C>T (p.Leu2177Phe)
|
|
|
NM_000540.3(RYR1):c.6532A>C (p.Met2178Leu)
|
|
|
NM_000540.3(RYR1):c.6533T>A (p.Met2178Lys)
|
rs1568494072
|
|
NM_000540.3(RYR1):c.6533_6534delinsAT (p.Met2178Asn)
|
|
|
NM_000540.3(RYR1):c.6534G>C (p.Met2178Ile)
|
|
|
NM_000540.3(RYR1):c.6544A>T (p.Ile2182Phe)
|
rs193922790
|
|
NM_000540.3(RYR1):c.6546C>G (p.Ile2182Met)
|
|
|
NM_000540.3(RYR1):c.6548+3G>T
|
rs2145578882
|
|
NM_000540.3(RYR1):c.6548G>A (p.Gly2183Glu)
|
rs959170123
|
|
NM_000540.3(RYR1):c.6548G>C (p.Gly2183Ala)
|
rs959170123
|
|
NM_000540.3(RYR1):c.6549-1_6553dup
|
rs1600807622
|
|
NM_000540.3(RYR1):c.6549-5C>T
|
|
|
NM_000540.3(RYR1):c.6549-7T>G
|
|
|
NM_000540.3(RYR1):c.6557T>C (p.Met2186Thr)
|
|
|
NM_000540.3(RYR1):c.6561C>A (p.Asn2187Lys)
|
|
|
NM_000540.3(RYR1):c.6566A>G (p.Lys2189Arg)
|
|
|
NM_000540.3(RYR1):c.6567A>C (p.Lys2189Asn)
|
|
|
NM_000540.3(RYR1):c.6580C>A (p.His2194Asn)
|
rs2145585380
|
|
NM_000540.3(RYR1):c.6588C>A (p.Asn2196Lys)
|
|
|
NM_000540.3(RYR1):c.6598G>C (p.Ala2200Pro)
|
|
|
NM_000540.3(RYR1):c.6599C>G (p.Ala2200Gly)
|
rs193922791
|
|
NM_000540.3(RYR1):c.659G>A (p.Arg220His)
|
|
|
NM_000540.3(RYR1):c.659G>T (p.Arg220Leu)
|
|
|
NM_000540.3(RYR1):c.6605G>A (p.Gly2202Asp)
|
|
|
NM_000540.3(RYR1):c.6608T>C (p.Met2203Thr)
|
|
|
NM_000540.3(RYR1):c.6610C>T (p.His2204Tyr)
|
rs745432757
|
|
NM_000540.3(RYR1):c.6611A>G (p.His2204Arg)
|
rs1969819699
|
|
NM_000540.3(RYR1):c.6612C>G (p.His2204Gln)
|
rs141646642
|
|
NM_000540.3(RYR1):c.6615G>C (p.Glu2205Asp)
|
|
|
NM_000540.3(RYR1):c.661C>T (p.Leu221Phe)
|
|
|
NM_000540.3(RYR1):c.6622A>G (p.Met2208Val)
|
|
|
NM_000540.3(RYR1):c.6628G>A (p.Val2210Ile)
|
|
|
NM_000540.3(RYR1):c.6628G>C (p.Val2210Leu)
|
rs193922792
|
|
NM_000540.3(RYR1):c.6629T>A (p.Val2210Asp)
|
rs1555782178
|
|
NM_000540.3(RYR1):c.6635T>A (p.Val2212Asp)
|
rs193922793
|
|
NM_000540.3(RYR1):c.6635T>C (p.Val2212Ala)
|
rs193922793
|
|
NM_000540.3(RYR1):c.6638A>G (p.Asn2213Ser)
|
|
|
NM_000540.3(RYR1):c.663C>T (p.Leu221=)
|
rs761319979
|
|
NM_000540.3(RYR1):c.6650G>A (p.Gly2217Asp)
|
|
|
NM_000540.3(RYR1):c.6652G>A (p.Gly2218Ser)
|
|
|
NM_000540.3(RYR1):c.6655G>T (p.Glu2219Ter)
|
|
|
NM_000540.3(RYR1):c.6656A>C (p.Glu2219Ala)
|
|
|
NM_000540.3(RYR1):c.6663+6G>A
|
|
|
NM_000540.3(RYR1):c.6664-10C>G
|
|
|
NM_000540.3(RYR1):c.6664-5C>G
|
rs867630021
|
|
NM_000540.3(RYR1):c.6664-8T>A
|
|
|
NM_000540.3(RYR1):c.6675C>G (p.Phe2225Leu)
|
|
|
NM_000540.3(RYR1):c.6676C>T (p.Pro2226Ser)
|
|
|
NM_000540.3(RYR1):c.6683T>C (p.Met2228Thr)
|
|
|
NM_000540.3(RYR1):c.6684G>A (p.Met2228Ile)
|
|
|
NM_000540.3(RYR1):c.6688A>T (p.Thr2230Ser)
|
rs200630616
|
|
NM_000540.3(RYR1):c.6689C>T (p.Thr2230Ile)
|
|
|
NM_000540.3(RYR1):c.6695G>A (p.Cys2232Tyr)
|
|
|
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.6715T>C (p.Phe2239Leu)
|
|
|
NM_000540.3(RYR1):c.6716T>G (p.Phe2239Cys)
|
|
|
NM_000540.3(RYR1):c.6719G>T (p.Cys2240Phe)
|
rs2145586442
|
|
NM_000540.3(RYR1):c.6721C>G (p.Arg2241Gly)
|
|
|
NM_000540.3(RYR1):c.6722G>A (p.Arg2241Gln)
|
|
|
NM_000540.3(RYR1):c.6722G>T (p.Arg2241Leu)
|
|
|
NM_000540.3(RYR1):c.6726C>G (p.Ile2242Met)
|
rs771658147
|
|
NM_000540.3(RYR1):c.6731G>A (p.Arg2244Gln)
|
|
|
NM_000540.3(RYR1):c.6736A>G (p.Asn2246Asp)
|
|
|
NM_000540.3(RYR1):c.6748A>G (p.Met2250Val)
|
|
|
NM_000540.3(RYR1):c.6752T>C (p.Phe2251Ser)
|
rs1600809003
|
|
NM_000540.3(RYR1):c.6757C>T (p.His2253Tyr)
|
rs917523269
|
|
NM_000540.3(RYR1):c.6761T>C (p.Leu2254Pro)
|
rs948875754
|
|
NM_000540.3(RYR1):c.676A>G (p.Met226Val)
|
|
|
NM_000540.3(RYR1):c.677T>A (p.Met226Lys)
|
rs112596687
|
|
NM_000540.3(RYR1):c.677T>C (p.Met226Thr)
|
rs112596687
|
|
NM_000540.3(RYR1):c.6781A>G (p.Ser2261Gly)
|
|
|
NM_000540.3(RYR1):c.6796G>T (p.Gly2266Cys)
|
rs772803714
|
|
NM_000540.3(RYR1):c.6797-15C>G
|
|
|
NM_000540.3(RYR1):c.6797-2A>G
|
|
|
NM_000540.3(RYR1):c.6797-3C>T
|
rs766633897
|
|
NM_000540.3(RYR1):c.6799A>G (p.Met2267Val)
|
rs886054393
|
|
NM_000540.3(RYR1):c.6800T>C (p.Met2267Thr)
|
|
|
NM_000540.3(RYR1):c.6800T>G (p.Met2267Arg)
|
|
|
NM_000540.3(RYR1):c.6801G>T (p.Met2267Ile)
|
|
|
NM_000540.3(RYR1):c.6805G>C (p.Gly2269Arg)
|
rs765088913
|
|
NM_000540.3(RYR1):c.6806G>A (p.Gly2269Asp)
|
|
|
NM_000540.3(RYR1):c.6806dup (p.Ser2270fs)
|
rs886041380
|
|
NM_000540.3(RYR1):c.680A>T (p.Asp227Val)
|
rs193922760
|
|
NM_000540.3(RYR1):c.6814C>A (p.Pro2272Thr)
|
rs777460436
|
|
NM_000540.3(RYR1):c.6814C>T (p.Pro2272Ser)
|
rs777460436
|
|
NM_000540.3(RYR1):c.6815C>T (p.Pro2272Leu)
|
|
|
NM_000540.3(RYR1):c.6818T>G (p.Leu2273Arg)
|
|
|
NM_000540.3(RYR1):c.6820G>A (p.Asp2274Asn)
|
|
|
NM_000540.3(RYR1):c.6821A>G (p.Asp2274Gly)
|
rs1064796493
|
|
NM_000540.3(RYR1):c.6827C>T (p.Ala2276Val)
|
|
|
NM_000540.3(RYR1):c.6829G>A (p.Ala2277Thr)
|
|
|
NM_000540.3(RYR1):c.682G>A (p.Glu228Lys)
|
rs2145351033
|
|
NM_000540.3(RYR1):c.6839T>C (p.Val2280Ala)
|
|
|
NM_000540.3(RYR1):c.6845A>C (p.Asp2282Ala)
|
rs2145588729
|
|
NM_000540.3(RYR1):c.6847A>C (p.Asn2283His)
|
rs118192121
|
|
NM_000540.3(RYR1):c.6850A>G (p.Asn2284Asp)
|
|
|
NM_000540.3(RYR1):c.6851A>G (p.Asn2284Ser)
|
rs779515779
|
|
NM_000540.3(RYR1):c.6851A>T (p.Asn2284Ile)
|
|
|
NM_000540.3(RYR1):c.6859G>A (p.Ala2287Thr)
|
|
|
NM_000540.3(RYR1):c.6860C>T (p.Ala2287Val)
|
|
|
NM_000540.3(RYR1):c.6865G>A (p.Ala2289Thr)
|
|
|
NM_000540.3(RYR1):c.6866C>T (p.Ala2289Val)
|
|
|
NM_000540.3(RYR1):c.686G>A (p.Cys229Tyr)
|
rs765606076
|
|
NM_000540.3(RYR1):c.6874G>C (p.Glu2292Gln)
|
|
|
NM_000540.3(RYR1):c.6880G>A (p.Asp2294Asn)
|
|
|
NM_000540.3(RYR1):c.6883C>G (p.Leu2295Val)
|
|
|
NM_000540.3(RYR1):c.6884T>C (p.Leu2295Pro)
|
rs1555782434
|
|
NM_000540.3(RYR1):c.6887A>G (p.Glu2296Gly)
|
|
|
NM_000540.3(RYR1):c.688C>G (p.Leu230Val)
|
|
|
NM_000540.3(RYR1):c.6891+2T>A
|
|
|
NM_000540.3(RYR1):c.6892-6C>G
|
|
|
NM_000540.3(RYR1):c.6892G>A (p.Val2298Ile)
|
rs761654671
|
|
NM_000540.3(RYR1):c.6904C>T (p.Leu2302=)
|
rs886042146
|
|
NM_000540.3(RYR1):c.6914G>C (p.Cys2305Ser)
|
|
|
NM_000540.3(RYR1):c.6923A>T (p.Gln2308Leu)
|
|
|
NM_000540.3(RYR1):c.6926G>A (p.Ser2309Asn)
|
rs2145597847
|
|
NM_000540.3(RYR1):c.6929del (p.Cys2310fs)
|
|
|
NM_000540.3(RYR1):c.6932C>G (p.Pro2311Arg)
|
|
|
NM_000540.3(RYR1):c.6938T>G (p.Leu2313Arg)
|
|
|
NM_000540.3(RYR1):c.693del (p.Ile232fs)
|
|
|
NM_000540.3(RYR1):c.6944C>T (p.Ala2315Val)
|
|
|
NM_000540.3(RYR1):c.6947A>G (p.Lys2316Arg)
|
|
|
NM_000540.3(RYR1):c.6952T>C (p.Tyr2318His)
|
|
|
NM_000540.3(RYR1):c.6953A>T (p.Tyr2318Phe)
|
|
|
NM_000540.3(RYR1):c.6961A>T (p.Ile2321Phe)
|
rs34390345
|
|
NM_000540.3(RYR1):c.6972C>A (p.Asn2324Lys)
|
|
|
NM_000540.3(RYR1):c.6982G>A (p.Gly2328Arg)
|
rs1969982762
|
|
NM_000540.3(RYR1):c.6985G>C (p.Glu2329Gln)
|
|
|
NM_000540.3(RYR1):c.6988C>T (p.Arg2330Cys)
|
|
|
NM_000540.3(RYR1):c.6989G>A (p.Arg2330His)
|
|
|
NM_000540.3(RYR1):c.6995T>G (p.Leu2332Arg)
|
|
|
NM_000540.3(RYR1):c.7006C>G (p.Arg2336Gly)
|
|
|
NM_000540.3(RYR1):c.7013C>T (p.Ala2338Val)
|
rs2145598247
|
|
NM_000540.3(RYR1):c.7015G>T (p.Val2339Phe)
|
rs1568500238
|
|
NM_000540.3(RYR1):c.7018T>A (p.Phe2340Ile)
|
rs1969983957
|
|
NM_000540.3(RYR1):c.7018T>C (p.Phe2340Leu)
|
rs1969983957
|
|
NM_000540.3(RYR1):c.7027+1G>A
|
|
|
NM_000540.3(RYR1):c.7027+5G>A
|
|
|
NM_000540.3(RYR1):c.7027G>C (p.Gly2343Arg)
|
|
|
NM_000540.3(RYR1):c.7028-11C>G
|
rs369342449
|
|
NM_000540.3(RYR1):c.7028-13T>C
|
rs773283518
|
|
NM_000540.3(RYR1):c.7028_7029delinsAA (p.Gly2343Glu)
|
|
|
NM_000540.3(RYR1):c.7030G>A (p.Glu2344Lys)
|
rs1970007265
|
|
NM_000540.3(RYR1):c.7032G>C (p.Glu2344Asp)
|
rs193922798
|
|
NM_000540.3(RYR1):c.7033_7034dup (p.Ser2345fs)
|
|
|
NM_000540.3(RYR1):c.7034G>C (p.Ser2345Thr)
|
|
|
NM_000540.3(RYR1):c.7035C>G (p.Ser2345Arg)
|
rs1448949048
|
|
NM_000540.3(RYR1):c.7042G>A (p.Glu2348Lys)
|
rs1568500778
|
|
NM_000540.3(RYR1):c.7052A>G (p.Asn2351Ser)
|
|
|
NM_000540.3(RYR1):c.7053T>C (p.Asn2351=)
|
rs748167551
|
|
NM_000540.3(RYR1):c.7054G>T (p.Val2352Leu)
|
rs1555783257
|
|
NM_000540.3(RYR1):c.7060G>A (p.Val2354Met)
|
rs746971794
|
|
NM_000540.3(RYR1):c.706G>A (p.Asp236Asn)
|
|
|
NM_000540.3(RYR1):c.7073T>A (p.Ile2358Asn)
|
rs1600820232
|
|
NM_000540.3(RYR1):c.707A>C (p.Asp236Ala)
|
|
|
NM_000540.3(RYR1):c.7082C>G (p.Pro2361Arg)
|
rs1308388953
|
|
NM_000540.3(RYR1):c.7085A>G (p.Glu2362Gly)
|
rs193922804
|
|
NM_000540.3(RYR1):c.7089C>G (p.Cys2363Trp)
|
rs2228071
|
|
NM_000540.3(RYR1):c.7097C>G (p.Pro2366Arg)
|
rs193922806
|
|
NM_000540.3(RYR1):c.7099G>T (p.Ala2367Ser)
|
|
|
NM_000540.3(RYR1):c.7105C>T (p.Arg2369Trp)
|
rs758509249
|
|
NM_000540.3(RYR1):c.7106G>A (p.Arg2369Gln)
|
rs777966555
|
|
NM_000540.3(RYR1):c.7108G>A (p.Gly2370Ser)
|
|
|
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.7114G>C (p.Gly2372Arg)
|
rs1600820601
|
|
NM_000540.3(RYR1):c.7115G>C (p.Gly2372Ala)
|
rs747106052
|
|
NM_000540.3(RYR1):c.7117G>A (p.Gly2373Ser)
|
|
|
NM_000540.3(RYR1):c.7130T>C (p.Leu2377Pro)
|
rs1600820682
|
|
NM_000540.3(RYR1):c.7130T>G (p.Leu2377Arg)
|
|
|
NM_000540.3(RYR1):c.7135G>T (p.Ala2379Ser)
|
|
|
NM_000540.3(RYR1):c.7136C>A (p.Ala2379Asp)
|
rs886054394
|
|
NM_000540.3(RYR1):c.713A>G (p.Asp238Gly)
|
|
|
NM_000540.3(RYR1):c.713A>T (p.Asp238Val)
|
|
|
NM_000540.3(RYR1):c.7140C>G (p.Ile2380Met)
|
rs573431795
|
|
NM_000540.3(RYR1):c.7140C>T (p.Ile2380=)
|
rs573431795
|
|
NM_000540.3(RYR1):c.7144G>A (p.Glu2382Lys)
|
|
|
NM_000540.3(RYR1):c.7153C>G (p.Arg2385Gly)
|
|
|
NM_000540.3(RYR1):c.7162G>A (p.Glu2388Lys)
|
|
|
NM_000540.3(RYR1):c.7166A>G (p.Asp2389Gly)
|
|
|
NM_000540.3(RYR1):c.7178A>C (p.Asp2393Ala)
|
|
|
NM_000540.3(RYR1):c.7180G>T (p.Gly2394Cys)
|
|
|
NM_000540.3(RYR1):c.7187G>C (p.Gly2396Ala)
|
|
|
NM_000540.3(RYR1):c.7189A>G (p.Ile2397Val)
|
|
|
NM_000540.3(RYR1):c.7201C>T (p.Arg2401Trp)
|
|
|
NM_000540.3(RYR1):c.7205G>A (p.Arg2402Gln)
|
rs1316906057
|
|
NM_000540.3(RYR1):c.7207C>T (p.Arg2403Cys)
|
|
|
NM_000540.3(RYR1):c.7208_7209delinsAT (p.Arg2403His)
|
|
|
NM_000540.3(RYR1):c.7211A>G (p.Glu2404Gly)
|
|
|
NM_000540.3(RYR1):c.7214+3G>T
|
|
|
NM_000540.3(RYR1):c.7215-10T>G
|
|
|
NM_000540.3(RYR1):c.7215-7C>G
|
|
|
NM_000540.3(RYR1):c.7231C>T (p.Pro2411Ser)
|
|
|
NM_000540.3(RYR1):c.7237G>A (p.Glu2413Lys)
|
|
|
NM_000540.3(RYR1):c.7243C>G (p.Arg2415Gly)
|
rs368013861
|
|
NM_000540.3(RYR1):c.7243C>T (p.Arg2415Trp)
|
rs368013861
|
|
NM_000540.3(RYR1):c.7246G>A (p.Val2416Met)
|
|
|
NM_000540.3(RYR1):c.725+5G>A
|
|
|
NM_000540.3(RYR1):c.7252C>G (p.Leu2418Val)
|
rs761917791
|
|
NM_000540.3(RYR1):c.726-12C>G
|
|
|
NM_000540.3(RYR1):c.7261G>A (p.Ala2421Thr)
|
|
|
NM_000540.3(RYR1):c.7261G>C (p.Ala2421Pro)
|
rs193922808
|
|
NM_000540.3(RYR1):c.7264A>G (p.Ile2422Val)
|
|
|
NM_000540.3(RYR1):c.7268T>C (p.Met2423Thr)
|
|
|
NM_000540.3(RYR1):c.7292A>T (p.Asp2431Val)
|
rs2145602229
|
|
NM_000540.3(RYR1):c.7298T>C (p.Leu2433Pro)
|
rs1600822174
|
|
NM_000540.3(RYR1):c.7302A>G (p.Gly2434=)
|
rs978688752
|
|
NM_000540.3(RYR1):c.7303C>T (p.Arg2435Cys)
|
rs1970033550
|
|
NM_000540.3(RYR1):c.7305C>G (p.Arg2435=)
|
|
|
NM_000540.3(RYR1):c.7307G>A (p.Cys2436Tyr)
|
rs2145602328
|
|
NM_000540.3(RYR1):c.7310C>T (p.Ala2437Val)
|
rs193922812
|
|
NM_000540.3(RYR1):c.7315G>A (p.Glu2439Lys)
|
rs1568501702
|
|
NM_000540.3(RYR1):c.7316A>G (p.Glu2439Gly)
|
|
|
NM_000540.3(RYR1):c.7317G>C (p.Glu2439Asp)
|
rs193922813
|
|
NM_000540.3(RYR1):c.7318A>G (p.Met2440Val)
|
|
|
NM_000540.3(RYR1):c.7321C>G (p.His2441Asp)
|
|
|
NM_000540.3(RYR1):c.7327A>G (p.Ile2443Val)
|
|
|
NM_000540.3(RYR1):c.7328T>C (p.Ile2443Thr)
|
|
|
NM_000540.3(RYR1):c.7332A>T (p.Gln2444His)
|
|
|
NM_000540.3(RYR1):c.7334C>A (p.Ala2445Asp)
|
|
|
NM_000540.3(RYR1):c.7336G>T (p.Gly2446Cys)
|
|
|
NM_000540.3(RYR1):c.7345G>C (p.Glu2449Gln)
|
rs1188413933
|
|
NM_000540.3(RYR1):c.7349C>A (p.Ala2450Asp)
|
|
|
NM_000540.3(RYR1):c.734A>G (p.Tyr245Cys)
|
|
|
NM_000540.3(RYR1):c.7355G>A (p.Arg2452Gln)
|
rs193922815
|
|
NM_000540.3(RYR1):c.7355G>C (p.Arg2452Pro)
|
rs193922815
|
|
NM_000540.3(RYR1):c.7357A>G (p.Ile2453Val)
|
|
|
NM_000540.3(RYR1):c.7364C>A (p.Ala2455Asp)
|
rs1970067755
|
|
NM_000540.3(RYR1):c.7368C>G (p.Ile2456Met)
|
|
|
NM_000540.3(RYR1):c.7375T>C (p.Ser2459Pro)
|
rs1970068453
|
|
NM_000540.3(RYR1):c.7376C>T (p.Ser2459Phe)
|
|
|
NM_000540.3(RYR1):c.7378C>T (p.Leu2460Phe)
|
rs2145605039
|
|
NM_000540.3(RYR1):c.737A>T (p.Tyr246Phe)
|
|
|
NM_000540.3(RYR1):c.7381G>T (p.Val2461Leu)
|
|
|
NM_000540.3(RYR1):c.7384C>A (p.Pro2462Thr)
|
|
|
NM_000540.3(RYR1):c.7393G>A (p.Asp2465Asn)
|
|
|
NM_000540.3(RYR1):c.7396C>T (p.Leu2466Phe)
|
rs767343838
|
|
NM_000540.3(RYR1):c.7399G>C (p.Val2467Leu)
|
|
|
NM_000540.3(RYR1):c.73G>A (p.Ala25Thr)
|
|
|
NM_000540.3(RYR1):c.73G>C (p.Ala25Pro)
|
|
|
NM_000540.3(RYR1):c.7406T>C (p.Ile2469Thr)
|
|
|
NM_000540.3(RYR1):c.7417C>A (p.Pro2473Thr)
|
|
|
NM_000540.3(RYR1):c.7420C>G (p.Leu2474Val)
|
|
|
NM_000540.3(RYR1):c.7425G>A (p.Gln2475=)
|
rs35512081
|
|
NM_000540.3(RYR1):c.7426A>T (p.Ile2476Phe)
|
|
|
NM_000540.3(RYR1):c.742G>T (p.Gly248Trp)
|
rs1801086
|
|
NM_000540.3(RYR1):c.7435C>A (p.Leu2479Met)
|
|
|
NM_000540.3(RYR1):c.7438G>A (p.Gly2480Ser)
|
|
|
NM_000540.3(RYR1):c.7439G>C (p.Gly2480Ala)
|
|
|
NM_000540.3(RYR1):c.743G>A (p.Gly248Glu)
|
|
|
NM_000540.3(RYR1):c.743G>C (p.Gly248Ala)
|
rs989228219
|
|
NM_000540.3(RYR1):c.7442A>G (p.Lys2481Arg)
|
rs2145605367
|
|
NM_000540.3(RYR1):c.7444+4C>T
|
|
|
NM_000540.3(RYR1):c.7444+5A>G
|
rs775251569
|
|
NM_000540.3(RYR1):c.7445A>G (p.Asp2482Gly)
|
|
|
NM_000540.3(RYR1):c.7450G>T (p.Ala2484Ser)
|
|
|
NM_000540.3(RYR1):c.7451C>T (p.Ala2484Val)
|
|
|
NM_000540.3(RYR1):c.7459C>G (p.Gln2487Glu)
|
rs749392499
|
|
NM_000540.3(RYR1):c.746G>A (p.Gly249Glu)
|
|
|
NM_000540.3(RYR1):c.746G>T (p.Gly249Val)
|
|
|
NM_000540.3(RYR1):c.7479del (p.Phe2494fs)
|
|
|
NM_000540.3(RYR1):c.7482C>G (p.Phe2494Leu)
|
rs201375572
|
|
NM_000540.3(RYR1):c.7482_7483del (p.Val2495fs)
|
|
|
NM_000540.3(RYR1):c.7486C>T (p.Pro2496Ser)
|
|
|
NM_000540.3(RYR1):c.7487C>G (p.Pro2496Arg)
|
rs193922817
|
|
NM_000540.3(RYR1):c.7489G>C (p.Asp2497His)
|
rs1430162222
|
|
NM_000540.3(RYR1):c.7495_7496dup (p.Ala2500fs)
|
|
|
NM_000540.3(RYR1):c.7496A>G (p.Lys2499Arg)
|
|
|
NM_000540.3(RYR1):c.7497G>T (p.Lys2499Asn)
|
rs1600825640
|
|
NM_000540.3(RYR1):c.7499C>T (p.Ala2500Val)
|
rs759055097
|
|
NM_000540.3(RYR1):c.7508T>C (p.Val2503Ala)
|
|
|
NM_000540.3(RYR1):c.7510C>T (p.Leu2504Phe)
|
rs2145606297
|
|
NM_000540.3(RYR1):c.7521C>G (p.Asp2507Glu)
|
|
|
NM_000540.3(RYR1):c.7522C>G (p.Arg2508Gly)
|
rs118192178
|
|
NM_000540.3(RYR1):c.7526T>C (p.Val2509Ala)
|
|
|
NM_000540.3(RYR1):c.7526T>G (p.Val2509Gly)
|
rs2145606371
|
|
NM_000540.3(RYR1):c.7528T>C (p.Tyr2510His)
|
rs193922819
|
|
NM_000540.3(RYR1):c.7529A>G (p.Tyr2510Cys)
|
|
|
NM_000540.3(RYR1):c.7536C>G (p.Ile2512Met)
|
|
|
NM_000540.3(RYR1):c.7537G>A (p.Glu2513Lys)
|
rs1970086634
|
|
NM_000540.3(RYR1):c.7543C>A (p.Gln2515Lys)
|
|
|
NM_000540.3(RYR1):c.7548C>A (p.Asp2516Glu)
|
|
|
NM_000540.3(RYR1):c.7559A>G (p.His2520Arg)
|
|
|
NM_000540.3(RYR1):c.7560C>G (p.His2520Gln)
|
|
|
NM_000540.3(RYR1):c.7561G>T (p.Val2521Leu)
|
|
|
NM_000540.3(RYR1):c.7569C>G (p.Asp2523Glu)
|
|
|
NM_000540.3(RYR1):c.7570G>A (p.Val2524Met)
|
|
|
NM_000540.3(RYR1):c.7582C>T (p.Pro2528Ser)
|
rs1970088268
|
|
NM_000540.3(RYR1):c.7585G>A (p.Asp2529Asn)
|
rs773050889
|
|
NM_000540.3(RYR1):c.7588A>C (p.Met2530Leu)
|
|
|
NM_000540.3(RYR1):c.7590G>A (p.Met2530Ile)
|
|
|
NM_000540.3(RYR1):c.7592G>A (p.Arg2531Lys)
|
|
|
NM_000540.3(RYR1):c.7613C>A (p.Thr2538Lys)
|
|
|
NM_000540.3(RYR1):c.7614G>A (p.Thr2538=)
|
|
|
NM_000540.3(RYR1):c.7615-11del
|
|
|
NM_000540.3(RYR1):c.7615-3T>G
|
|
|
NM_000540.3(RYR1):c.7615G>T (p.Ala2539Ser)
|
|
|
NM_000540.3(RYR1):c.7616C>G (p.Ala2539Gly)
|
rs761057071
|
|
NM_000540.3(RYR1):c.7618A>T (p.Thr2540Ser)
|
|
|
NM_000540.3(RYR1):c.7619C>T (p.Thr2540Ile)
|
|
|
NM_000540.3(RYR1):c.7625G>A (p.Ser2542Asn)
|
rs1220636855
|
|
NM_000540.3(RYR1):c.762T>A (p.His254Gln)
|
|
|
NM_000540.3(RYR1):c.7633G>A (p.Glu2545Lys)
|
|
|
NM_000540.3(RYR1):c.7635G>C (p.Glu2545Asp)
|
rs193922820
|
|
NM_000540.3(RYR1):c.7636A>G (p.Met2546Val)
|
|
|
NM_000540.3(RYR1):c.7637T>C (p.Met2546Thr)
|
|
|
NM_000540.3(RYR1):c.7639GCGCTG[3] (p.Leu2550_Asn2551insAlaLeu)
|
|
|
NM_000540.3(RYR1):c.763G>A (p.Ala255Thr)
|
|
|
NM_000540.3(RYR1):c.7645G>C (p.Ala2549Pro)
|
|
|
NM_000540.3(RYR1):c.7646C>T (p.Ala2549Val)
|
|
|
NM_000540.3(RYR1):c.7654C>A (p.Arg2552Ser)
|
|
|
NM_000540.3(RYR1):c.7655G>A (p.Arg2552His)
|
|
|
NM_000540.3(RYR1):c.7655_7660del (p.Arg2552_Tyr2553del)
|
rs1568504976
|
|
NM_000540.3(RYR1):c.7661T>C (p.Leu2554Pro)
|
rs1292252892
|
|
NM_000540.3(RYR1):c.7663T>C (p.Cys2555Arg)
|
|
|
NM_000540.3(RYR1):c.7663T>G (p.Cys2555Gly)
|
rs1600831610
|
|
NM_000540.3(RYR1):c.7670C>T (p.Ala2557Val)
|
|
|
NM_000540.3(RYR1):c.7672G>T (p.Val2558Leu)
|
|
|
NM_000540.3(RYR1):c.7673T>G (p.Val2558Gly)
|
|
|
NM_000540.3(RYR1):c.7679C>G (p.Pro2560Arg)
|
rs1164159550
|
|
NM_000540.3(RYR1):c.7679C>T (p.Pro2560Leu)
|
|
|
NM_000540.3(RYR1):c.7680G>T (p.Pro2560=)
|
rs752993876
|
|
NM_000540.3(RYR1):c.7681C>T (p.Leu2561Phe)
|
|
|
NM_000540.3(RYR1):c.7684A>G (p.Ile2562Val)
|
rs1359576805
|
|
NM_000540.3(RYR1):c.7684A>T (p.Ile2562Phe)
|
rs1359576805
|
|
NM_000540.3(RYR1):c.7688C>T (p.Thr2563Ile)
|
|
|
NM_000540.3(RYR1):c.7691A>C (p.Lys2564Thr)
|
|
|
NM_000540.3(RYR1):c.7692G>C (p.Lys2564Asn)
|
|
|
NM_000540.3(RYR1):c.7693T>G (p.Cys2565Gly)
|
|
|
NM_000540.3(RYR1):c.7696G>A (p.Ala2566Thr)
|
|
|
NM_000540.3(RYR1):c.7697C>T (p.Ala2566Val)
|
|
|
NM_000540.3(RYR1):c.7699C>G (p.Pro2567Ala)
|
|
|
NM_000540.3(RYR1):c.76A>C (p.Thr26Pro)
|
rs1972635177
|
|
NM_000540.3(RYR1):c.7706T>C (p.Phe2569Ser)
|
|
|
NM_000540.3(RYR1):c.7706T>G (p.Phe2569Cys)
|
|
|
NM_000540.3(RYR1):c.7708G>C (p.Ala2570Pro)
|
|
|
NM_000540.3(RYR1):c.7711G>A (p.Gly2571Ser)
|
|
|
NM_000540.3(RYR1):c.7712G>C (p.Gly2571Ala)
|
|
|
NM_000540.3(RYR1):c.7713C>T (p.Gly2571=)
|
rs1159750263
|
|
NM_000540.3(RYR1):c.7715C>T (p.Thr2572Ile)
|
|
|
NM_000540.3(RYR1):c.7718A>G (p.Glu2573Gly)
|
|
|
NM_000540.3(RYR1):c.7723C>T (p.Arg2575Cys)
|
rs1970183094
|
|
NM_000540.3(RYR1):c.7724G>C (p.Arg2575Pro)
|
rs369450781
|
|
NM_000540.3(RYR1):c.7726G>A (p.Ala2576Thr)
|
|
|
NM_000540.3(RYR1):c.7726G>C (p.Ala2576Pro)
|
|
|
NM_000540.3(RYR1):c.7727C>T (p.Ala2576Val)
|
|
|
NM_000540.3(RYR1):c.7729A>C (p.Ile2577Leu)
|
rs567321458
|
|
NM_000540.3(RYR1):c.7729A>G (p.Ile2577Val)
|
rs567321458
|
|
NM_000540.3(RYR1):c.7730T>C (p.Ile2577Thr)
|
|
|
NM_000540.3(RYR1):c.7732A>T (p.Met2578Leu)
|
|
|
NM_000540.3(RYR1):c.7734G>A (p.Met2578Ile)
|
|
|
NM_000540.3(RYR1):c.7735G>C (p.Val2579Leu)
|
|
|
NM_000540.3(RYR1):c.7736T>G (p.Val2579Gly)
|
rs754579512
|
|
NM_000540.3(RYR1):c.7742C>T (p.Ser2581Phe)
|
rs746348043
|
|
NM_000540.3(RYR1):c.7743T>C (p.Ser2581=)
|
rs1477392994
|
|
NM_000540.3(RYR1):c.7746G>A (p.Met2582Ile)
|
|
|
NM_000540.3(RYR1):c.7748T>A (p.Leu2583Gln)
|
|
|
NM_000540.3(RYR1):c.7750C>T (p.His2584Tyr)
|
|
|
NM_000540.3(RYR1):c.7753A>G (p.Thr2585Ala)
|
|
|
NM_000540.3(RYR1):c.7759T>A (p.Tyr2587Asn)
|
|
|
NM_000540.3(RYR1):c.7762C>T (p.Arg2588Cys)
|
rs745885315
|
|
NM_000540.3(RYR1):c.7763G>A (p.Arg2588His)
|
|
|
NM_000540.3(RYR1):c.7763G>C (p.Arg2588Pro)
|
|
|
NM_000540.3(RYR1):c.7769C>T (p.Ser2590Phe)
|
|
|
NM_000540.3(RYR1):c.776G>A (p.Trp259Ter)
|
|
|
NM_000540.3(RYR1):c.7771C>T (p.Arg2591Trp)
|
rs193922822
|
|
NM_000540.3(RYR1):c.7772G>A (p.Arg2591Gln)
|
rs758169018
|
|
NM_000540.3(RYR1):c.7774G>A (p.Gly2592Ser)
|
|
|
NM_000540.3(RYR1):c.7774G>C (p.Gly2592Arg)
|
|
|
NM_000540.3(RYR1):c.7775dup (p.Arg2593fs)
|
rs1281875506
|
|
NM_000540.3(RYR1):c.7777C>G (p.Arg2593Gly)
|
rs756685891
|
|
NM_000540.3(RYR1):c.7777C>T (p.Arg2593Cys)
|
|
|
NM_000540.3(RYR1):c.7782G>C (p.Ser2594=)
|
|
|
NM_000540.3(RYR1):c.7783C>T (p.Leu2595Phe)
|
|
|
NM_000540.3(RYR1):c.7787C>G (p.Thr2596Ser)
|
rs193922824
|
|
NM_000540.3(RYR1):c.7793C>G (p.Ala2598Gly)
|
rs770719689
|
|
NM_000540.3(RYR1):c.7793C>T (p.Ala2598Val)
|
|
|
NM_000540.3(RYR1):c.7799G>A (p.Arg2600His)
|
rs201749008
|
|
NM_000540.3(RYR1):c.7801G>A (p.Asp2601Asn)
|
|
|
NM_000540.3(RYR1):c.7801G>C (p.Asp2601His)
|
|
|
NM_000540.3(RYR1):c.7804G>A (p.Val2602Ile)
|
|
|
NM_000540.3(RYR1):c.7807A>T (p.Ile2603Phe)
|
|
|
NM_000540.3(RYR1):c.7810G>A (p.Glu2604Lys)
|
|
|
NM_000540.3(RYR1):c.7813G>T (p.Asp2605Tyr)
|
|
|
NM_000540.3(RYR1):c.7817G>A (p.Cys2606Tyr)
|
rs1358912817
|
|
NM_000540.3(RYR1):c.7819C>T (p.Leu2607Phe)
|
|
|
NM_000540.3(RYR1):c.7822A>C (p.Met2608Leu)
|
|
|
NM_000540.3(RYR1):c.7823T>C (p.Met2608Thr)
|
|
|
NM_000540.3(RYR1):c.7823T>G (p.Met2608Arg)
|
|
|
NM_000540.3(RYR1):c.7823del (p.Met2608fs)
|
|
|
NM_000540.3(RYR1):c.7825T>G (p.Ser2609Ala)
|
|
|
NM_000540.3(RYR1):c.7826C>G (p.Ser2609Trp)
|
rs747045754
|
|
NM_000540.3(RYR1):c.7828C>T (p.Leu2610Phe)
|
|
|
NM_000540.3(RYR1):c.7835+12C>T
|
rs755502084
|
|
NM_000540.3(RYR1):c.7835+3G>A
|
|
|
NM_000540.3(RYR1):c.7835+4G>A
|
|
|
NM_000540.3(RYR1):c.7835+4_7835+5delinsAG
|
rs2145615354
|
|
NM_000540.3(RYR1):c.7835+4_7835+5insGGCGG
|
|
|
NM_000540.3(RYR1):c.7835+4_7835+5insGGCGGGGCAGGCTTCAGGGTGG
|
rs1970195017
|
|
NM_000540.3(RYR1):c.7835+5_7835+26dup
|
rs762183772
|
|
NM_000540.3(RYR1):c.7835+5_7835+44del
|
|
|
NM_000540.3(RYR1):c.7835+5_7835+9del
|
|
|
NM_000540.3(RYR1):c.7835+6G>T
|
|
|
NM_000540.3(RYR1):c.7835+6_7835+36delinsAGC
|
rs1555784450
|
|
NM_000540.3(RYR1):c.7835+6_7835+7insGCGGGGCG
|
|
|
NM_000540.3(RYR1):c.7835+6dup
|
|
|
NM_000540.3(RYR1):c.7835G>C (p.Arg2612Thr)
|
rs769677939
|
|
NM_000540.3(RYR1):c.7836-11T>G
|
|
|
NM_000540.3(RYR1):c.7836-2A>G
|
|
|
NM_000540.3(RYR1):c.7836-3C>G
|
|
|
NM_000540.3(RYR1):c.7836-3C>T
|
rs1345584460
|
|
NM_000540.3(RYR1):c.7836-5C>A
|
rs1301933255
|
|
NM_000540.3(RYR1):c.7836-6C>T
|
rs780269941
|
|
NM_000540.3(RYR1):c.7836G>T (p.Arg2612Ser)
|
|
|
NM_000540.3(RYR1):c.7838A>C (p.Tyr2613Ser)
|
|
|
NM_000540.3(RYR1):c.7841T>A (p.Ile2614Asn)
|
rs1274889477
|
|
NM_000540.3(RYR1):c.7841T>G (p.Ile2614Ser)
|
|
|
NM_000540.3(RYR1):c.7842C>G (p.Ile2614Met)
|
|
|
NM_000540.3(RYR1):c.7843C>A (p.Arg2615Ser)
|
|
|
NM_000540.3(RYR1):c.7843C>G (p.Arg2615Gly)
|
|
|
NM_000540.3(RYR1):c.7846C>T (p.Pro2616Ser)
|
rs2145619973
|
|
NM_000540.3(RYR1):c.7847C>G (p.Pro2616Arg)
|
rs1555784680
|
|
NM_000540.3(RYR1):c.7847C>T (p.Pro2616Leu)
|
|
|
NM_000540.3(RYR1):c.7847del (p.Pro2616fs)
|
rs1970255367
|
|
NM_000540.3(RYR1):c.7850C>G (p.Ser2617Trp)
|
|
|
NM_000540.3(RYR1):c.7853T>G (p.Met2618Arg)
|
|
|
NM_000540.3(RYR1):c.7855C>G (p.Leu2619Val)
|
|
|
NM_000540.3(RYR1):c.7855del (p.Leu2619fs)
|
|
|
NM_000540.3(RYR1):c.7856T>C (p.Leu2619Pro)
|
rs1263237391
|
|
NM_000540.3(RYR1):c.785A>G (p.Glu262Gly)
|
|
|
NM_000540.3(RYR1):c.7863C>G (p.His2621Gln)
|
|
|
NM_000540.3(RYR1):c.7864C>G (p.Leu2622Val)
|
|
|
NM_000540.3(RYR1):c.7869G>C (p.Leu2623Phe)
|
|
|
NM_000540.3(RYR1):c.7870C>T (p.Arg2624Cys)
|
|
|
NM_000540.3(RYR1):c.7871G>C (p.Arg2624Pro)
|
|
|
NM_000540.3(RYR1):c.7872_7873delinsTT (p.Arg2625Cys)
|
rs2145620310
|
|
NM_000540.3(RYR1):c.7873C>A (p.Arg2625Ser)
|
|
|
NM_000540.3(RYR1):c.7874G>A (p.Arg2625His)
|
|
|
NM_000540.3(RYR1):c.7874G>C (p.Arg2625Pro)
|
rs751301767
|
|
NM_000540.3(RYR1):c.7874G>T (p.Arg2625Leu)
|
rs751301767
|
|
NM_000540.3(RYR1):c.7876C>G (p.Leu2626Val)
|
rs145446438
|
|
NM_000540.3(RYR1):c.7878G>C (p.Leu2626=)
|
rs148907377
|
|
NM_000540.3(RYR1):c.7879G>A (p.Val2627Met)
|
rs914804033
|
|
NM_000540.3(RYR1):c.7880T>G (p.Val2627Gly)
|
rs747337318
|
|
NM_000540.3(RYR1):c.7886_7888dup (p.Asp2629_Val2630insAsp)
|
|
|
NM_000540.3(RYR1):c.7887C>A (p.Asp2629Glu)
|
|
|
NM_000540.3(RYR1):c.7887C>G (p.Asp2629Glu)
|
|
|
NM_000540.3(RYR1):c.7888G>C (p.Val2630Leu)
|
rs193922825
|
|
NM_000540.3(RYR1):c.7903G>A (p.Glu2635Lys)
|
|
|
NM_000540.3(RYR1):c.7903G>C (p.Glu2635Gln)
|
rs750282403
|
|
NM_000540.3(RYR1):c.7909G>C (p.Ala2637Pro)
|
rs1204662800
|
|
NM_000540.3(RYR1):c.7909G>T (p.Ala2637Ser)
|
|
|
NM_000540.3(RYR1):c.7915A>C (p.Met2639Leu)
|
|
|
NM_000540.3(RYR1):c.7921C>T (p.Leu2641Phe)
|
|
|
NM_000540.3(RYR1):c.7925A>G (p.Lys2642Arg)
|
rs748696547
|
|
NM_000540.3(RYR1):c.7925A>T (p.Lys2642Met)
|
|
|
NM_000540.3(RYR1):c.7926+6G>A
|
|
|
NM_000540.3(RYR1):c.7927-4C>A
|
|
|
NM_000540.3(RYR1):c.7927-7C>T
|
rs886054395
|
|
NM_000540.3(RYR1):c.7933A>C (p.Thr2645Pro)
|
|
|
NM_000540.3(RYR1):c.7934C>A (p.Thr2645Asn)
|
|
|
NM_000540.3(RYR1):c.7936A>G (p.Asn2646Asp)
|
rs746174410
|
|
NM_000540.3(RYR1):c.7943A>C (p.Tyr2648Ser)
|
|
|
NM_000540.3(RYR1):c.7943A>G (p.Tyr2648Cys)
|
|
|
NM_000540.3(RYR1):c.7948C>T (p.Arg2650Cys)
|
rs1970336071
|
|
NM_000540.3(RYR1):c.7949G>A (p.Arg2650His)
|
|
|
NM_000540.3(RYR1):c.7951T>C (p.Cys2651Arg)
|
|
|
NM_000540.3(RYR1):c.7958A>G (p.Lys2653Arg)
|
rs199864636
|
|
NM_000540.3(RYR1):c.7992C>G (p.Phe2664Leu)
|
rs150620191
|
|
NM_000540.3(RYR1):c.7993G>A (p.Gly2665Arg)
|
|
|
NM_000540.3(RYR1):c.7994G>A (p.Gly2665Glu)
|
|
|
NM_000540.3(RYR1):c.7G>A (p.Asp3Asn)
|
|
|
NM_000540.3(RYR1):c.800+4G>A
|
rs774892189
|
|
NM_000540.3(RYR1):c.8005G>A (p.Glu2669Lys)
|
rs2145626689
|
|
NM_000540.3(RYR1):c.8030A>C (p.Lys2677Thr)
|
|
|
NM_000540.3(RYR1):c.8036T>A (p.Phe2679Tyr)
|
|
|
NM_000540.3(RYR1):c.8037C>A (p.Phe2679Leu)
|
|
|
NM_000540.3(RYR1):c.8038T>A (p.Trp2680Arg)
|
rs1453234577
|
|
NM_000540.3(RYR1):c.8041G>A (p.Gly2681Ser)
|
|
|
NM_000540.3(RYR1):c.8042G>A (p.Gly2681Asp)
|
|
|
NM_000540.3(RYR1):c.8042G>C (p.Gly2681Ala)
|
rs1970341837
|
|
NM_000540.3(RYR1):c.8044A>G (p.Ile2682Val)
|
|
|
NM_000540.3(RYR1):c.8045T>A (p.Ile2682Asn)
|
rs1387840141
|
|
NM_000540.3(RYR1):c.8046_8064dup (p.Lys2689delinsLeuTer)
|
rs1970341946
|
|
NM_000540.3(RYR1):c.804G>T (p.Trp268Cys)
|
|
|
NM_000540.3(RYR1):c.8054C>T (p.Ser2685Phe)
|
rs781126470
|
|
NM_000540.3(RYR1):c.8057T>C (p.Leu2686Pro)
|
|
|
NM_000540.3(RYR1):c.8059G>A (p.Ala2687Thr)
|
|
|
NM_000540.3(RYR1):c.8063A>G (p.His2688Arg)
|
|
|
NM_000540.3(RYR1):c.8063A>T (p.His2688Leu)
|
|
|
NM_000540.3(RYR1):c.8067+1G>A
|
|
|
NM_000540.3(RYR1):c.8068-3C>G
|
|
|
NM_000540.3(RYR1):c.806G>A (p.Ser269Asn)
|
rs1256381592
|
|
NM_000540.3(RYR1):c.8070A>G (p.Lys2690=)
|
|
|
NM_000540.3(RYR1):c.8071T>C (p.Tyr2691His)
|
rs1221624769
|
|
NM_000540.3(RYR1):c.8074G>A (p.Asp2692Asn)
|
rs201847439
|
|
NM_000540.3(RYR1):c.8075A>T (p.Asp2692Val)
|
|
|
NM_000540.3(RYR1):c.8082G>T (p.Glu2694Asp)
|
|
|
NM_000540.3(RYR1):c.8085G>A (p.Leu2695=)
|
|
|
NM_000540.3(RYR1):c.8089C>T (p.Arg2697Cys)
|
|
|
NM_000540.3(RYR1):c.8090G>T (p.Arg2697Leu)
|
|
|
NM_000540.3(RYR1):c.8098A>C (p.Met2700Leu)
|
rs1430660421
|
|
NM_000540.3(RYR1):c.8100G>A (p.Met2700Ile)
|
rs2145628771
|
|
NM_000540.3(RYR1):c.8104T>C (p.Cys2702Arg)
|
rs1568510244
|
|
NM_000540.3(RYR1):c.8112C>G (p.Cys2704Trp)
|
|
|
NM_000540.3(RYR1):c.8117T>C (p.Ile2706Thr)
|
|
|
NM_000540.3(RYR1):c.8118_8119inv (p.Ala2707Thr)
|
|
|
NM_000540.3(RYR1):c.8129T>A (p.Leu2710Gln)
|
|
|
NM_000540.3(RYR1):c.8131C>T (p.Pro2711Ser)
|
|
|
NM_000540.3(RYR1):c.8132C>T (p.Pro2711Leu)
|
|
|
NM_000540.3(RYR1):c.8134C>G (p.Pro2712Ala)
|
rs267605464
|
|
NM_000540.3(RYR1):c.8149G>A (p.Ala2717Thr)
|
|
|
NM_000540.3(RYR1):c.8155T>C (p.Tyr2719His)
|
rs200920798
|
|
NM_000540.3(RYR1):c.8156A>T (p.Tyr2719Phe)
|
rs1555785252
|
|
NM_000540.3(RYR1):c.8168C>G (p.Ala2723Gly)
|
rs1185074728
|
|
NM_000540.3(RYR1):c.8188G>C (p.Asp2730His)
|
rs193922827
|
|
NM_000540.3(RYR1):c.8189A>G (p.Asp2730Gly)
|
rs112196644
|
|
NM_000540.3(RYR1):c.8189_8190delinsGC (p.Asp2730Gly)
|
|
|
NM_000540.3(RYR1):c.8190T>A (p.Asp2730Glu)
|
|
|
NM_000540.3(RYR1):c.8190_8191inv (p.Ala2731Thr)
|
|
|
NM_000540.3(RYR1):c.8191G>A (p.Ala2731Thr)
|
|
|
NM_000540.3(RYR1):c.8196del (p.Gly2733fs)
|
rs1600844997
|
|
NM_000540.3(RYR1):c.8198G>A (p.Gly2733Asp)
|
rs193922828
|
|
NM_000540.3(RYR1):c.8198G>C (p.Gly2733Ala)
|
rs193922828
|
|
NM_000540.3(RYR1):c.8198G>T (p.Gly2733Val)
|
rs193922828
|
|
NM_000540.3(RYR1):c.8201A>G (p.Asn2734Ser)
|
|
|
NM_000540.3(RYR1):c.820C>G (p.Arg274Gly)
|
|
|
NM_000540.3(RYR1):c.821G>A (p.Arg274His)
|
rs368711923
|
|
NM_000540.3(RYR1):c.8221G>A (p.Glu2741Lys)
|
|
|
NM_000540.3(RYR1):c.8223G>C (p.Glu2741Asp)
|
rs1970371040
|
|
NM_000540.3(RYR1):c.8225C>T (p.Thr2742Ile)
|
|
|
NM_000540.3(RYR1):c.8227C>T (p.Leu2743Phe)
|
|
|
NM_000540.3(RYR1):c.8231+1G>A
|
rs869312737
|
|
NM_000540.3(RYR1):c.8232-12T>G
|
|
|
NM_000540.3(RYR1):c.8232-4A>G
|
|
|
NM_000540.3(RYR1):c.8233G>T (p.Val2745Leu)
|
|
|
NM_000540.3(RYR1):c.8239A>C (p.Ile2747Leu)
|
|
|
NM_000540.3(RYR1):c.823T>C (p.Trp275Arg)
|
|
|
NM_000540.3(RYR1):c.823T>G (p.Trp275Gly)
|
|
|
NM_000540.3(RYR1):c.8256C>A (p.Asp2752Glu)
|
|
|
NM_000540.3(RYR1):c.8258C>T (p.Ser2753Phe)
|
|
|
NM_000540.3(RYR1):c.8260T>C (p.Phe2754Leu)
|
|
|
NM_000540.3(RYR1):c.8265T>G (p.Ile2755Met)
|
|
|
NM_000540.3(RYR1):c.8276C>T (p.Ala2759Val)
|
|
|
NM_000540.3(RYR1):c.8297G>T (p.Trp2766Leu)
|
rs1970379492
|
|
NM_000540.3(RYR1):c.8298G>C (p.Trp2766Cys)
|
|
|
NM_000540.3(RYR1):c.8305G>C (p.Asp2769His)
|
|
|
NM_000540.3(RYR1):c.830A>T (p.Gln277Leu)
|
|
|
NM_000540.3(RYR1):c.831G>C (p.Gln277His)
|
rs34004552
|
|
NM_000540.3(RYR1):c.8411T>G (p.Ile2804Ser)
|
|
|
NM_000540.3(RYR1):c.848A>G (p.His283Arg)
|
|
|
NM_000540.3(RYR1):c.857C>T (p.Thr286Ile)
|
|
|
NM_000540.3(RYR1):c.859G>A (p.Gly287Arg)
|
rs201292282
|
|
NM_000540.3(RYR1):c.859G>C (p.Gly287Arg)
|
|
|
NM_000540.3(RYR1):c.8654C>G (p.Thr2885Arg)
|
rs1159304367
|
|
NM_000540.3(RYR1):c.8654C>T (p.Thr2885Met)
|
|
|
NM_000540.3(RYR1):c.8662C>T (p.Arg2888Trp)
|
rs1234488220
|
|
NM_000540.3(RYR1):c.8663G>A (p.Arg2888Gln)
|
|
|
NM_000540.3(RYR1):c.8675A>G (p.Gln2892Arg)
|
rs573517646
|
|
NM_000540.3(RYR1):c.8687C>A (p.Ala2896Asp)
|
|
|
NM_000540.3(RYR1):c.8692+131G>A
|
rs1970466822
|
|
NM_000540.3(RYR1):c.8692+1del
|
|
|
NM_000540.3(RYR1):c.8692+2T>A
|
|
|
NM_000540.3(RYR1):c.8692+4A>C
|
|
|
NM_000540.3(RYR1):c.8706C>G (p.His2902Gln)
|
|
|
NM_000540.3(RYR1):c.8710C>G (p.Leu2904Val)
|
|
|
NM_000540.3(RYR1):c.8715G>A (p.Leu2905=)
|
|
|
NM_000540.3(RYR1):c.8715_8716delinsAA (p.Val2906Ile)
|
rs2145638236
|
|
NM_000540.3(RYR1):c.8716G>A (p.Val2906Ile)
|
|
|
NM_000540.3(RYR1):c.8725G>A (p.Asp2909Asn)
|
|
|
NM_000540.3(RYR1):c.8725G>C (p.Asp2909His)
|
|
|
NM_000540.3(RYR1):c.8725G>T (p.Asp2909Tyr)
|
|
|
NM_000540.3(RYR1):c.8726A>C (p.Asp2909Ala)
|
rs2145638301
|
|
NM_000540.3(RYR1):c.8729C>T (p.Thr2910Met)
|
rs1291499059
|
|
NM_000540.3(RYR1):c.8734A>T (p.Thr2912Ser)
|
|
|
NM_000540.3(RYR1):c.8735C>G (p.Thr2912Arg)
|
|
|
NM_000540.3(RYR1):c.8735C>T (p.Thr2912Met)
|
rs1970478618
|
|
NM_000540.3(RYR1):c.873_874del (p.Leu292fs)
|
|
|
NM_000540.3(RYR1):c.8741A>T (p.Lys2914Met)
|
|
|
NM_000540.3(RYR1):c.8743G>A (p.Glu2915Lys)
|
rs1970479129
|
|
NM_000540.3(RYR1):c.8744A>C (p.Glu2915Ala)
|
rs1970479233
|
|
NM_000540.3(RYR1):c.8746A>T (p.Lys2916Ter)
|
|
|
NM_000540.3(RYR1):c.8748G>C (p.Lys2916Asn)
|
|
|
NM_000540.3(RYR1):c.8749G>A (p.Ala2917Thr)
|
|
|
NM_000540.3(RYR1):c.8749G>C (p.Ala2917Pro)
|
|
|
NM_000540.3(RYR1):c.874C>T (p.Leu292Phe)
|
rs1966901541
|
|
NM_000540.3(RYR1):c.8767G>A (p.Ala2923Thr)
|
|
|
NM_000540.3(RYR1):c.8773G>A (p.Glu2925Lys)
|
rs2145638522
|
|
NM_000540.3(RYR1):c.8774A>C (p.Glu2925Ala)
|
|
|
NM_000540.3(RYR1):c.8801G>C (p.Gly2934Ala)
|
|
|
NM_000540.3(RYR1):c.8803T>C (p.Tyr2935His)
|
|
|
NM_000540.3(RYR1):c.8806G>A (p.Ala2936Thr)
|
|
|
NM_000540.3(RYR1):c.8808G>T (p.Ala2936=)
|
|
|
NM_000540.3(RYR1):c.8809G>A (p.Val2937Ile)
|
|
|
NM_000540.3(RYR1):c.8813C>G (p.Thr2938Arg)
|
|
|
NM_000540.3(RYR1):c.8813C>T (p.Thr2938Ile)
|
|
|
NM_000540.3(RYR1):c.8816+3A>G
|
|
|
NM_000540.3(RYR1):c.8816+5G>A
|
|
|
NM_000540.3(RYR1):c.8816+5_8816+6delinsAT
|
|
|
NM_000540.3(RYR1):c.8816+6C>G
|
|
|
NM_000540.3(RYR1):c.8816+6C>T
|
|
|
NM_000540.3(RYR1):c.8816G>A (p.Arg2939Lys)
|
rs118192125
|
|
NM_000540.3(RYR1):c.8817-3C>A
|
rs1356588584
|
|
NM_000540.3(RYR1):c.8817-5T>A
|
|
|
NM_000540.3(RYR1):c.8820C>A (p.Gly2940=)
|
|
|
NM_000540.3(RYR1):c.8821C>A (p.Leu2941Ile)
|
|
|
NM_000540.3(RYR1):c.8825A>G (p.Lys2942Arg)
|
|
|
NM_000540.3(RYR1):c.8830A>G (p.Met2944Val)
|
|
|
NM_000540.3(RYR1):c.8831T>C (p.Met2944Thr)
|
rs1555786188
|
|
NM_000540.3(RYR1):c.8840A>T (p.Asp2947Val)
|
|
|
NM_000540.3(RYR1):c.8843C>G (p.Ser2948Trp)
|
rs759514075
|
|
NM_000540.3(RYR1):c.8846C>T (p.Ser2949Phe)
|
|
|
NM_000540.3(RYR1):c.884_889del (p.Asp295_Gln296del)
|
|
|
NM_000540.3(RYR1):c.8851A>C (p.Ile2951Leu)
|
|
|
NM_000540.3(RYR1):c.8858A>T (p.Lys2953Met)
|
|
|
NM_000540.3(RYR1):c.8859G>A (p.Lys2953=)
|
|
|
NM_000540.3(RYR1):c.885C>A (p.Asp295Glu)
|
|
|
NM_000540.3(RYR1):c.8867C>T (p.Ala2956Val)
|
|
|
NM_000540.3(RYR1):c.887A>G (p.Gln296Arg)
|
|
|
NM_000540.3(RYR1):c.8882A>G (p.Gln2961Arg)
|
|
|
NM_000540.3(RYR1):c.8883G>A (p.Gln2961=)
|
rs1600856689
|
|
NM_000540.3(RYR1):c.8893C>T (p.Arg2965Cys)
|
|
|
NM_000540.3(RYR1):c.8894G>A (p.Arg2965His)
|
rs2145643659
|
|
NM_000540.3(RYR1):c.8894G>T (p.Arg2965Leu)
|
|
|
NM_000540.3(RYR1):c.8901G>A (p.Met2967Ile)
|
rs1970544424
|
|
NM_000540.3(RYR1):c.8906T>A (p.Ile2969Asn)
|
|
|
NM_000540.3(RYR1):c.890G>T (p.Gly297Val)
|
|
|
NM_000540.3(RYR1):c.8916G>C (p.Glu2972Asp)
|
|
|
NM_000540.3(RYR1):c.8920A>G (p.Ile2974Val)
|
rs1010807883
|
|
NM_000540.3(RYR1):c.8926C>T (p.His2976Tyr)
|
rs2145643832
|
|
NM_000540.3(RYR1):c.8932+226C>T
|
|
|
NM_000540.3(RYR1):c.8932+3A>G
|
|
|
NM_000540.3(RYR1):c.8932+4C>T
|
|
|
NM_000540.3(RYR1):c.894GGT[2] (p.Val301del)
|
|
|
NM_000540.3(RYR1):c.8951G>A (p.Gly2984Glu)
|
rs781308894
|
|
NM_000540.3(RYR1):c.8954G>A (p.Arg2985Gln)
|
rs769814020
|
|
NM_000540.3(RYR1):c.8960A>G (p.Glu2987Gly)
|
|
|
NM_000540.3(RYR1):c.8964G>C (p.Lys2988Asn)
|
|
|
NM_000540.3(RYR1):c.8969C>A (p.Pro2990Gln)
|
|
|
NM_000540.3(RYR1):c.8969C>G (p.Pro2990Arg)
|
|
|
NM_000540.3(RYR1):c.8969C>T (p.Pro2990Leu)
|
rs768538971
|
|
NM_000540.3(RYR1):c.8977C>A (p.Gln2993Lys)
|
|
|
NM_000540.3(RYR1):c.8978A>G (p.Gln2993Arg)
|
rs1568519044
|
|
NM_000540.3(RYR1):c.8983A>G (p.Ile2995Val)
|
|
|
NM_000540.3(RYR1):c.8991_8992insGA (p.Phe2998fs)
|
|
|
NM_000540.3(RYR1):c.8992T>A (p.Phe2998Ile)
|
|
|
NM_000540.3(RYR1):c.8996C>T (p.Ala2999Val)
|
rs374272827
|
|
NM_000540.3(RYR1):c.9000+3G>A
|
|
|
NM_000540.3(RYR1):c.9001-15C>A
|
rs372702492
|
|
NM_000540.3(RYR1):c.9001-2A>G
|
rs774119942
|
|
NM_000540.3(RYR1):c.9007C>G (p.Leu3003Val)
|
rs1970687243
|
|
NM_000540.3(RYR1):c.9007C>T (p.Leu3003Phe)
|
rs1970687243
|
|
NM_000540.3(RYR1):c.9010C>A (p.Pro3004Thr)
|
|
|
NM_000540.3(RYR1):c.9013T>A (p.Leu3005Met)
|
rs1568519242
|
|
NM_000540.3(RYR1):c.9014T>C (p.Leu3005Ser)
|
|
|
NM_000540.3(RYR1):c.901G>A (p.Val301Ile)
|
|
|
NM_000540.3(RYR1):c.901G>C (p.Val301Leu)
|
|
|
NM_000540.3(RYR1):c.9020A>G (p.Asn3007Ser)
|
|
|
NM_000540.3(RYR1):c.9027C>A (p.Tyr3009Ter)
|
|
|
NM_000540.3(RYR1):c.9028T>G (p.Phe3010Val)
|
|
|
NM_000540.3(RYR1):c.9034A>G (p.Asn3012Asp)
|
|
|
NM_000540.3(RYR1):c.9037C>G (p.His3013Asp)
|
|
|
NM_000540.3(RYR1):c.904G>T (p.Asp302Tyr)
|
|
|
NM_000540.3(RYR1):c.9058A>T (p.Thr3020Ser)
|
|
|
NM_000540.3(RYR1):c.905A>G (p.Asp302Gly)
|
|
|
NM_000540.3(RYR1):c.905A>T (p.Asp302Val)
|
rs1966903034
|
|
NM_000540.3(RYR1):c.9061C>T (p.Pro3021Ser)
|
|
|
NM_000540.3(RYR1):c.9064G>A (p.Ala3022Thr)
|
|
|
NM_000540.3(RYR1):c.9071T>A (p.Val3024Glu)
|
|
|
NM_000540.3(RYR1):c.9071T>C (p.Val3024Ala)
|
rs1568519356
|
|
NM_000540.3(RYR1):c.9081C>A (p.Ser3027Arg)
|
|
|
NM_000540.3(RYR1):c.9082G>T (p.Gly3028Cys)
|
|
|
NM_000540.3(RYR1):c.9083G>C (p.Gly3028Ala)
|
|
|
NM_000540.3(RYR1):c.9088C>T (p.His3030Tyr)
|
|
|
NM_000540.3(RYR1):c.9103G>A (p.Glu3035Lys)
|
|
|
NM_000540.3(RYR1):c.9103G>C (p.Glu3035Gln)
|
rs1053579438
|
|
NM_000540.3(RYR1):c.910A>G (p.Ser304Gly)
|
|
|
NM_000540.3(RYR1):c.9116_9122+8del
|
|
|
NM_000540.3(RYR1):c.9119C>A (p.Thr3040Asn)
|
|
|
NM_000540.3(RYR1):c.9121_9122delinsCA (p.Ser3041His)
|
rs2145656051
|
|
NM_000540.3(RYR1):c.9122+5G>T
|
|
|
NM_000540.3(RYR1):c.9123-12C>G
|
|
|
NM_000540.3(RYR1):c.9123-14T>G
|
rs2145659049
|
|
NM_000540.3(RYR1):c.9130T>C (p.Cys3044Arg)
|
rs1970727401
|
|
NM_000540.3(RYR1):c.9131G>A (p.Cys3044Tyr)
|
|
|
NM_000540.3(RYR1):c.9151C>T (p.Arg3051Cys)
|
|
|
NM_000540.3(RYR1):c.9151_9162del (p.Arg3051_Val3054del)
|
|
|
NM_000540.3(RYR1):c.9155A>G (p.His3052Arg)
|
rs1171211801
|
|
NM_000540.3(RYR1):c.9158G>A (p.Arg3053Gln)
|
|
|
NM_000540.3(RYR1):c.9168_9169del (p.Phe3057fs)
|
rs1555787058
|
|
NM_000540.3(RYR1):c.9173-20G>A
|
|
|
NM_000540.3(RYR1):c.9176C>T (p.Thr3059Ile)
|
rs1194961735
|
|
NM_000540.3(RYR1):c.9185C>T (p.Pro3062Leu)
|
|
|
NM_000540.3(RYR1):c.9200G>A (p.Cys3067Tyr)
|
|
|
NM_000540.3(RYR1):c.9202C>G (p.Leu3068Val)
|
|
|
NM_000540.3(RYR1):c.9202C>T (p.Leu3068Phe)
|
|
|
NM_000540.3(RYR1):c.9215C>T (p.Ala3072Val)
|
|
|
NM_000540.3(RYR1):c.9217C>T (p.Arg3073Cys)
|
|
|
NM_000540.3(RYR1):c.9218G>A (p.Arg3073His)
|
|
|
NM_000540.3(RYR1):c.9232A>C (p.Arg3078=)
|
|
|
NM_000540.3(RYR1):c.9233+3A>G
|
rs1555787274
|
|
NM_000540.3(RYR1):c.9233+6del
|
rs757394018
|
|
NM_000540.3(RYR1):c.9234-11T>G
|
|
|
NM_000540.3(RYR1):c.9234G>T (p.Arg3078Ser)
|
rs760538610
|
|
NM_000540.3(RYR1):c.923C>G (p.Thr308Ser)
|
|
|
NM_000540.3(RYR1):c.9241A>T (p.Met3081Leu)
|
|
|
NM_000540.3(RYR1):c.9245A>G (p.Lys3082Arg)
|
|
|
NM_000540.3(RYR1):c.9250G>A (p.Gly3084Ser)
|
|
|
NM_000540.3(RYR1):c.9257A>T (p.Glu3086Val)
|
|
|
NM_000540.3(RYR1):c.9261C>G (p.Ile3087Met)
|
|
|
NM_000540.3(RYR1):c.9262G>C (p.Val3088Leu)
|
rs145044872
|
|
NM_000540.3(RYR1):c.9262G>T (p.Val3088Leu)
|
rs145044872
|
|
NM_000540.3(RYR1):c.9268G>A (p.Ala3090Thr)
|
rs2145662576
|
|
NM_000540.3(RYR1):c.9272G>C (p.Gly3091Ala)
|
rs1555787328
|
|
NM_000540.3(RYR1):c.9277C>T (p.Arg3093Cys)
|
rs1064797039
|
|
NM_000540.3(RYR1):c.9281C>T (p.Ser3094Phe)
|
rs2145662654
|
|
NM_000540.3(RYR1):c.9283T>C (p.Phe3095Leu)
|
|
|
NM_000540.3(RYR1):c.9283TTC[1] (p.Phe3096del)
|
|
|
NM_000540.3(RYR1):c.9289G>A (p.Glu3097Lys)
|
|
|
NM_000540.3(RYR1):c.9293G>A (p.Ser3098Asn)
|
|
|
NM_000540.3(RYR1):c.9293G>T (p.Ser3098Ile)
|
|
|
NM_000540.3(RYR1):c.9295G>T (p.Ala3099Ser)
|
|
|
NM_000540.3(RYR1):c.9299C>T (p.Ser3100Leu)
|
|
|
NM_000540.3(RYR1):c.92A>G (p.Gln31Arg)
|
|
|
NM_000540.3(RYR1):c.9307A>G (p.Ile3103Val)
|
|
|
NM_000540.3(RYR1):c.9319G>A (p.Val3107Met)
|
|
|
NM_000540.3(RYR1):c.9325A>G (p.Asn3109Asp)
|
|
|
NM_000540.3(RYR1):c.932C>A (p.Thr311Asn)
|
rs1966904561
|
|
NM_000540.3(RYR1):c.932C>T (p.Thr311Ile)
|
|
|
NM_000540.3(RYR1):c.9336G>A (p.Leu3112=)
|
|
|
NM_000540.3(RYR1):c.9340A>C (p.Lys3114Gln)
|
|
|
NM_000540.3(RYR1):c.934T>C (p.Ser312Pro)
|
|
|
NM_000540.3(RYR1):c.9356G>A (p.Arg3119His)
|
rs193922833
|
|
NM_000540.3(RYR1):c.9356G>T (p.Arg3119Leu)
|
rs193922833
|
|
NM_000540.3(RYR1):c.9362A>G (p.Gln3121Arg)
|
|
|
NM_000540.3(RYR1):c.9373G>A (p.Val3125Met)
|
|
|
NM_000540.3(RYR1):c.9376G>C (p.Gly3126Arg)
|
|
|
NM_000540.3(RYR1):c.9377G>C (p.Gly3126Ala)
|
|
|
NM_000540.3(RYR1):c.937T>G (p.Phe313Val)
|
rs1966905126
|
|
NM_000540.3(RYR1):c.9382A>C (p.Asn3128His)
|
|
|
NM_000540.3(RYR1):c.9384C>A (p.Asn3128Lys)
|
|
|
NM_000540.3(RYR1):c.938_940del (p.Phe313del)
|
rs2145360371
|
|
NM_000540.3(RYR1):c.9391T>C (p.Tyr3131His)
|
|
|
NM_000540.3(RYR1):c.9392A>G (p.Tyr3131Cys)
|
rs776504924
|
|
NM_000540.3(RYR1):c.9394A>G (p.Thr3132Ala)
|
|
|
NM_000540.3(RYR1):c.9398C>T (p.Thr3133Ile)
|
|
|
NM_000540.3(RYR1):c.9412C>A (p.Pro3138Thr)
|
rs2145663479
|
|
NM_000540.3(RYR1):c.9416T>C (p.Val3139Ala)
|
|
|
NM_000540.3(RYR1):c.9418C>G (p.Leu3140Val)
|
|
|
NM_000540.3(RYR1):c.9436C>T (p.His3146Tyr)
|
rs2145663617
|
|
NM_000540.3(RYR1):c.9442G>A (p.Ala3148Thr)
|
|
|
NM_000540.3(RYR1):c.9446A>G (p.Gln3149Arg)
|
|
|
NM_000540.3(RYR1):c.9462T>A (p.Asp3154Glu)
|
|
|
NM_000540.3(RYR1):c.9469A>T (p.Ile3157Phe)
|
rs1374173406
|
|
NM_000540.3(RYR1):c.9472+20G>A
|
|
|
NM_000540.3(RYR1):c.9473-22_9473-1dup
|
|
|
NM_000540.3(RYR1):c.9473-3C>T
|
|
|
NM_000540.3(RYR1):c.9473-7C>G
|
|
|
NM_000540.3(RYR1):c.9476A>G (p.Asp3159Gly)
|
rs879074444
|
|
NM_000540.3(RYR1):c.947G>A (p.Arg316His)
|
rs193922761
|
|
NM_000540.3(RYR1):c.9486G>C (p.Gln3162His)
|
rs1568524894
|
|
NM_000540.3(RYR1):c.9496T>C (p.Tyr3166His)
|
|
|
NM_000540.3(RYR1):c.9497A>G (p.Tyr3166Cys)
|
|
|
NM_000540.3(RYR1):c.9499C>T (p.Arg3167Ter)
|
rs1171637302
|
|
NM_000540.3(RYR1):c.949A>G (p.Ile317Val)
|
rs763765599
|
|
NM_000540.3(RYR1):c.9503C>T (p.Thr3168Met)
|
|
|
NM_000540.3(RYR1):c.950T>C (p.Ile317Thr)
|
|
|
NM_000540.3(RYR1):c.9512G>A (p.Ser3171Asn)
|
|
|
NM_000540.3(RYR1):c.9513T>C (p.Ser3171=)
|
rs1568524980
|
|
NM_000540.3(RYR1):c.9514A>G (p.Ile3172Val)
|
|
|
NM_000540.3(RYR1):c.9518A>C (p.Tyr3173Ser)
|
|
|
NM_000540.3(RYR1):c.9521C>T (p.Ser3174Phe)
|
rs1600880972
|
|
NM_000540.3(RYR1):c.9529A>C (p.Thr3177Pro)
|
|
|
NM_000540.3(RYR1):c.952T>A (p.Ser318Thr)
|
|
|
NM_000540.3(RYR1):c.9537G>C (p.Lys3179Asn)
|
rs2145673238
|
|
NM_000540.3(RYR1):c.953C>G (p.Ser318Cys)
|
|
|
NM_000540.3(RYR1):c.9541A>T (p.Thr3181Ser)
|
|
|
NM_000540.3(RYR1):c.9546T>G (p.Tyr3182Ter)
|
|
|
NM_000540.3(RYR1):c.9550G>A (p.Glu3184Lys)
|
|
|
NM_000540.3(RYR1):c.9554+1G>A
|
|
|
NM_000540.3(RYR1):c.9554+3A>C
|
rs2145673303
|
|
NM_000540.3(RYR1):c.9554+6G>A
|
|
|
NM_000540.3(RYR1):c.9556C>T (p.Leu3186Phe)
|
|
|
NM_000540.3(RYR1):c.9560G>T (p.Arg3187Leu)
|
rs1171145743
|
|
NM_000540.3(RYR1):c.9563C>G (p.Pro3188Arg)
|
|
|
NM_000540.3(RYR1):c.957+3C>T
|
|
|
NM_000540.3(RYR1):c.957+4A>C
|
|
|
NM_000540.3(RYR1):c.957+5_957+29del
|
rs794726982
|
|
NM_000540.3(RYR1):c.9574G>A (p.Glu3192Lys)
|
|
|
NM_000540.3(RYR1):c.9575A>G (p.Glu3192Gly)
|
|
|
NM_000540.3(RYR1):c.9577T>C (p.Cys3193Arg)
|
|
|
NM_000540.3(RYR1):c.9579C>T (p.Cys3193=)
|
rs587784379
|
|
NM_000540.3(RYR1):c.957G>A (p.Lys319=)
|
|
|
NM_000540.3(RYR1):c.9581T>C (p.Leu3194Pro)
|
rs1970955432
|
|
NM_000540.3(RYR1):c.9583G>A (p.Ala3195Thr)
|
|
|
NM_000540.3(RYR1):c.9586C>G (p.Arg3196Gly)
|
|
|
NM_000540.3(RYR1):c.9587G>T (p.Arg3196Leu)
|
|
|
NM_000540.3(RYR1):c.958G>A (p.Glu320Lys)
|
rs1568440962
|
|
NM_000540.3(RYR1):c.9601A>G (p.Met3201Val)
|
rs2145677135
|
|
NM_000540.3(RYR1):c.9603G>A (p.Met3201Ile)
|
rs373611044
|
|
NM_000540.3(RYR1):c.9603G>C (p.Met3201Ile)
|
rs373611044
|
|
NM_000540.3(RYR1):c.9607G>A (p.Val3203Met)
|
|
|
NM_000540.3(RYR1):c.960G>T (p.Glu320Asp)
|
|
|
NM_000540.3(RYR1):c.9611C>T (p.Ala3204Val)
|
|
|
NM_000540.3(RYR1):c.9619G>A (p.Glu3207Lys)
|
rs2145677238
|
|
NM_000540.3(RYR1):c.9626A>G (p.Gln3209Arg)
|
|
|
NM_000540.3(RYR1):c.9629T>C (p.Leu3210Pro)
|
rs2145677322
|
|
NM_000540.3(RYR1):c.9631A>G (p.Asn3211Asp)
|
|
|
NM_000540.3(RYR1):c.9632A>G (p.Asn3211Ser)
|
|
|
NM_000540.3(RYR1):c.9634G>C (p.Glu3212Gln)
|
|
|
NM_000540.3(RYR1):c.9641A>G (p.Asn3214Ser)
|
|
|
NM_000540.3(RYR1):c.9642C>A (p.Asn3214Lys)
|
|
|
NM_000540.3(RYR1):c.9643G>A (p.Ala3215Thr)
|
rs745421419
|
|
NM_000540.3(RYR1):c.9649T>C (p.Ser3217Pro)
|
rs113422327
|
|
NM_000540.3(RYR1):c.9650C>G (p.Ser3217Cys)
|
|
|
NM_000540.3(RYR1):c.9653T>C (p.Val3218Ala)
|
rs1281524830
|
|
NM_000540.3(RYR1):c.9655T>C (p.Tyr3219His)
|
|
|
NM_000540.3(RYR1):c.9659C>T (p.Thr3220Ile)
|
|
|
NM_000540.3(RYR1):c.965T>C (p.Leu322Pro)
|
|
|
NM_000540.3(RYR1):c.9662C>G (p.Thr3221Ser)
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rs1173243402
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NM_000540.3(RYR1):c.9668C>T (p.Ser3223Phe)
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NM_000540.3(RYR1):c.9671C>G (p.Pro3224Arg)
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rs373626870
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NM_000540.3(RYR1):c.9671C>T (p.Pro3224Leu)
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NM_000540.3(RYR1):c.9673C>T (p.Arg3225Trp)
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rs766665861
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NM_000540.3(RYR1):c.9674G>A (p.Arg3225Gln)
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NM_000540.3(RYR1):c.9676G>C (p.Glu3226Gln)
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rs1970963163
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NM_000540.3(RYR1):c.9679C>T (p.Arg3227Trp)
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rs765250427
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NM_000540.3(RYR1):c.9682G>A (p.Ala3228Thr)
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NM_000540.3(RYR1):c.9683C>T (p.Ala3228Val)
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rs1335263831
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NM_000540.3(RYR1):c.9697C>G (p.Pro3233Ala)
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NM_000540.3(RYR1):c.9697C>T (p.Pro3233Ser)
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NM_000540.3(RYR1):c.9700A>G (p.Asn3234Asp)
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NM_000540.3(RYR1):c.9705T>A (p.Ser3235Arg)
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NM_000540.3(RYR1):c.9709GAG[1] (p.Glu3238del)
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rs780480139
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NM_000540.3(RYR1):c.970G>A (p.Val324Met)
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NM_000540.3(RYR1):c.9712G>A (p.Glu3238Lys)
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NM_000540.3(RYR1):c.9718T>C (p.Cys3240Arg)
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rs979989952
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NM_000540.3(RYR1):c.9721C>T (p.Pro3241Ser)
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NM_000540.3(RYR1):c.9722C>T (p.Pro3241Leu)
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NM_000540.3(RYR1):c.9724G>A (p.Asp3242Asn)
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NM_000540.3(RYR1):c.9726C>T (p.Asp3242=)
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rs1971019633
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NM_000540.3(RYR1):c.973G>A (p.Ala325Thr)
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NM_000540.3(RYR1):c.9745C>A (p.Leu3249Ile)
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NM_000540.3(RYR1):c.9748A>C (p.Met3250Leu)
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NM_000540.3(RYR1):c.9751G>A (p.Ala3251Thr)
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NM_000540.3(RYR1):c.9752C>T (p.Ala3251Val)
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NM_000540.3(RYR1):c.9754G>A (p.Asp3252Asn)
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NM_000540.3(RYR1):c.9760G>A (p.Gly3254Arg)
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NM_000540.3(RYR1):c.9761G>C (p.Gly3254Ala)
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NM_000540.3(RYR1):c.9761G>T (p.Gly3254Val)
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NM_000540.3(RYR1):c.9763G>A (p.Gly3255Arg)
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NM_000540.3(RYR1):c.9763G>T (p.Gly3255Trp)
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NM_000540.3(RYR1):c.9764G>T (p.Gly3255Val)
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NM_000540.3(RYR1):c.9767T>A (p.Leu3256Gln)
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rs779643621
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NM_000540.3(RYR1):c.9769G>C (p.Ala3257Pro)
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NM_000540.3(RYR1):c.9772G>C (p.Glu3258Gln)
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rs754431075
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NM_000540.3(RYR1):c.9775T>G (p.Ser3259Ala)
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NM_000540.3(RYR1):c.977C>T (p.Pro326Leu)
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NM_000540.3(RYR1):c.9784C>T (p.Arg3262Cys)
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rs557030813
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NM_000540.3(RYR1):c.9785G>A (p.Arg3262His)
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NM_000540.3(RYR1):c.9785G>C (p.Arg3262Pro)
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rs200855514
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NM_000540.3(RYR1):c.9791C>T (p.Thr3264Ile)
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NM_000540.3(RYR1):c.9796A>T (p.Met3266Leu)
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rs201588259
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NM_000540.3(RYR1):c.9797T>C (p.Met3266Thr)
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rs2145682010
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NM_000540.3(RYR1):c.9798G>A (p.Met3266Ile)
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NM_000540.3(RYR1):c.97A>C (p.Lys33Gln)
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NM_000540.3(RYR1):c.97A>G (p.Lys33Glu)
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rs193922746
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NM_000540.3(RYR1):c.9805G>C (p.Val3269Leu)
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NM_000540.3(RYR1):c.980A>T (p.Lys327Met)
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NM_000540.3(RYR1):c.9811G>C (p.Glu3271Gln)
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NM_000540.3(RYR1):c.9817A>G (p.Thr3273Ala)
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NM_000540.3(RYR1):c.9827T>C (p.Met3276Thr)
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rs1310839286
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NM_000540.3(RYR1):c.982C>T (p.Arg328Trp)
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rs193922762
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NM_000540.3(RYR1):c.9830T>A (p.Leu3277Gln)
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NM_000540.3(RYR1):c.9832del (p.Cys3278fs)
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NM_000540.3(RYR1):c.9833G>A (p.Cys3278Tyr)
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NM_000540.3(RYR1):c.9846C>T (p.Pro3282=)
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rs886054399
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NM_000540.3(RYR1):c.9850T>A (p.Trp3284Arg)
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rs1555788577
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NM_000540.3(RYR1):c.9850T>C (p.Trp3284Arg)
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rs1555788577
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NM_000540.3(RYR1):c.9853T>A (p.Trp3285Arg)
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rs1356452031
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NM_000540.3(RYR1):c.985G>A (p.Asp329Asn)
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rs1966919745
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NM_000540.3(RYR1):c.985G>T (p.Asp329Tyr)
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NM_000540.3(RYR1):c.9868G>A (p.Glu3290Lys)
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rs112151058
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NM_000540.3(RYR1):c.9872C>T (p.Ala3291Val)
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NM_000540.3(RYR1):c.9874C>A (p.Pro3292Thr)
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NM_000540.3(RYR1):c.9885C>G (p.Ala3295=)
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rs776468955
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NM_000540.3(RYR1):c.9889C>T (p.Pro3297Ser)
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rs2145682498
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NM_000540.3(RYR1):c.988G>A (p.Val330Met)
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NM_000540.3(RYR1):c.9899C>G (p.Ala3300Gly)
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NM_000540.3(RYR1):c.98A>G (p.Lys33Arg)
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NM_000540.3(RYR1):c.9901C>A (p.Pro3301Thr)
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NM_000540.3(RYR1):c.9905C>A (p.Pro3302Gln)
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rs777896104
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NM_000540.3(RYR1):c.9905C>G (p.Pro3302Arg)
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NM_000540.3(RYR1):c.9905C>T (p.Pro3302Leu)
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NM_000540.3(RYR1):c.9907C>T (p.Pro3303Ser)
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NM_000540.3(RYR1):c.9914C>T (p.Thr3305Ile)
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NM_000540.3(RYR1):c.9917C>A (p.Ala3306Asp)
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NM_000540.3(RYR1):c.9923C>T (p.Thr3308Ile)
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NM_000540.3(RYR1):c.9931C>T (p.His3311Tyr)
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NM_000540.3(RYR1):c.9932A>T (p.His3311Leu)
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NM_000540.3(RYR1):c.9938A>G (p.Asn3313Ser)
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NM_000540.3(RYR1):c.9948G>A (p.Leu3316=)
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NM_000540.3(RYR1):c.9958C>A (p.Leu3320Met)
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NM_000540.3(RYR1):c.9970G>A (p.Val3324Ile)
|
rs761241693
|
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NM_000540.3(RYR1):c.9970G>T (p.Val3324Phe)
|
rs761241693
|
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NM_000540.3(RYR1):c.9977A>C (p.Asn3326Thr)
|
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NM_000540.3(RYR1):c.9977A>G (p.Asn3326Ser)
|
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NM_000540.3(RYR1):c.997A>G (p.Met333Val)
|
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NM_000540.3(RYR1):c.998T>C (p.Met333Thr)
|
rs1600656748
|
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NM_001042723.1(RYR1):c.5140_5142del (p.Leu1714del)
|
rs1438501767
|
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