NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val)
|
rs146429605
|
0.00107
|
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His)
|
rs137932199
|
0.00073
|
NM_000540.3(RYR1):c.1598G>A (p.Arg533His)
|
rs144336148
|
0.00029
|
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp)
|
rs147320363
|
0.00014
|
NM_000540.3(RYR1):c.2654G>A (p.Arg885His)
|
rs370634440
|
0.00013
|
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)
|
rs200563280
|
0.00013
|
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met)
|
rs193922879
|
0.00011
|
NM_000540.3(RYR1):c.2366G>A (p.Arg789Gln)
|
rs200069592
|
0.00011
|
NM_000540.3(RYR1):c.10348-6C>G
|
rs193922837
|
0.00010
|
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)
|
rs200546266
|
0.00010
|
NM_000540.3(RYR1):c.7261G>T (p.Ala2421Ser)
|
rs193922808
|
0.00010
|
NM_000540.3(RYR1):c.2956C>T (p.Arg986Cys)
|
rs150993059
|
0.00006
|
NM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp)
|
rs587784379
|
0.00006
|
NM_000540.3(RYR1):c.9758T>C (p.Ile3253Thr)
|
rs375626634
|
0.00006
|
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly)
|
rs367543058
|
0.00005
|
NM_000540.3(RYR1):c.14344G>A (p.Gly4782Arg)
|
rs746538672
|
0.00005
|
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp)
|
rs118192173
|
0.00005
|
NM_000540.3(RYR1):c.6418C>T (p.Arg2140Trp)
|
rs750275456
|
0.00005
|
NM_000540.3(RYR1):c.11557G>A (p.Glu3853Lys)
|
rs145087576
|
0.00004
|
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter)
|
rs377178986
|
0.00004
|
NM_000540.3(RYR1):c.1250T>C (p.Leu417Pro)
|
rs764262446
|
0.00004
|
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met)
|
rs118192140
|
0.00004
|
NM_000540.3(RYR1):c.1841G>A (p.Arg614His)
|
rs193922772
|
0.00004
|
NM_000540.3(RYR1):c.4361C>T (p.Pro1454Leu)
|
rs149737658
|
0.00004
|
NM_000540.3(RYR1):c.5340_5341del (p.Cys1781fs)
|
rs779723153
|
0.00004
|
NM_000540.3(RYR1):c.6274+1G>A
|
rs1226228092
|
0.00004
|
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met)
|
rs118192177
|
0.00004
|
NM_000540.3(RYR1):c.10229C>T (p.Pro3410Leu)
|
rs769196275
|
0.00003
|
NM_000540.3(RYR1):c.1099C>T (p.Arg367Trp)
|
rs140037232
|
0.00003
|
NM_000540.3(RYR1):c.13691G>A (p.Arg4564Gln)
|
rs864309559
|
0.00003
|
NM_000540.3(RYR1):c.14928C>G (p.Phe4976Leu)
|
rs368874586
|
0.00003
|
NM_000540.3(RYR1):c.1589G>A (p.Arg530His)
|
rs111888148
|
0.00003
|
NM_000540.3(RYR1):c.5115_5122del (p.Leu1706fs)
|
rs1248355799
|
0.00003
|
NM_000540.3(RYR1):c.7093G>A (p.Gly2365Arg)
|
rs761224660
|
0.00003
|
NM_000540.3(RYR1):c.7099G>A (p.Ala2367Thr)
|
rs146306934
|
0.00003
|
NM_000540.3(RYR1):c.7291G>A (p.Asp2431Asn)
|
rs193922810
|
0.00003
|
NM_000540.3(RYR1):c.7613C>T (p.Thr2538Met)
|
rs575446156
|
0.00003
|
NM_000540.3(RYR1):c.7771C>G (p.Arg2591Gly)
|
rs193922822
|
0.00003
|
NM_000540.3(RYR1):c.947G>T (p.Arg316Leu)
|
rs193922761
|
0.00003
|
NM_000540.3(RYR1):c.9811G>A (p.Glu3271Lys)
|
rs773026490
|
0.00003
|
NM_000540.3(RYR1):c.9847C>T (p.Arg3283Ter)
|
rs752199191
|
0.00003
|
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp)
|
rs763112609
|
0.00002
|
NM_000540.3(RYR1):c.1201C>T (p.Arg401Cys)
|
rs193922764
|
0.00002
|
NM_000540.3(RYR1):c.122T>C (p.Phe41Ser)
|
rs766407858
|
0.00002
|
NM_000540.3(RYR1):c.1264G>A (p.Gly422Arg)
|
rs757157750
|
0.00002
|
NM_000540.3(RYR1):c.13990T>C (p.Cys4664Arg)
|
rs759500310
|
0.00002
|
NM_000540.3(RYR1):c.14173-2A>G
|
rs1189024951
|
0.00002
|
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)
|
rs146876145
|
0.00002
|
NM_000540.3(RYR1):c.15089G>A (p.Arg5030His)
|
rs747155223
|
0.00002
|
NM_000540.3(RYR1):c.2045G>A (p.Arg682Gln)
|
rs372513400
|
0.00002
|
NM_000540.3(RYR1):c.2635G>A (p.Glu879Lys)
|
rs746904839
|
0.00002
|
NM_000540.3(RYR1):c.3877C>A (p.Pro1293Thr)
|
rs146407179
|
0.00002
|
NM_000540.3(RYR1):c.4674dup (p.Asn1559fs)
|
rs759632485
|
0.00002
|
NM_000540.3(RYR1):c.5920C>T (p.Arg1974Trp)
|
rs779733902
|
0.00002
|
NM_000540.3(RYR1):c.6359T>C (p.Met2120Thr)
|
rs398123473
|
0.00002
|
NM_000540.3(RYR1):c.6599C>T (p.Ala2200Val)
|
rs193922791
|
0.00002
|
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile)
|
rs193922797
|
0.00002
|
NM_000540.3(RYR1):c.844C>T (p.Arg282Trp)
|
rs1057518970
|
0.00002
|
NM_000540.3(RYR1):c.9892G>A (p.Ala3298Thr)
|
rs544339193
|
0.00002
|
NM_000540.3(RYR1):c.10749_10753del (p.Glu3584fs)
|
rs1412691915
|
0.00001
|
NM_000540.3(RYR1):c.10937+1G>C
|
rs775682151
|
0.00001
|
NM_000540.3(RYR1):c.1100G>A (p.Arg367Gln)
|
rs113332073
|
0.00001
|
NM_000540.3(RYR1):c.11193+2T>C
|
rs1971785665
|
0.00001
|
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln)
|
rs193922839
|
0.00001
|
NM_000540.3(RYR1):c.11590+1G>T
|
rs113928116
|
0.00001
|
NM_000540.3(RYR1):c.11608+2T>C
|
rs1443083095
|
0.00001
|
NM_000540.3(RYR1):c.11708G>A (p.Arg3903Gln)
|
rs148399313
|
0.00001
|
NM_000540.3(RYR1):c.12406C>A (p.Arg4136Ser)
|
rs193922849
|
0.00001
|
NM_000540.3(RYR1):c.12624+1G>C
|
rs770054352
|
0.00001
|
NM_000540.3(RYR1):c.131G>A (p.Arg44His)
|
rs139161723
|
0.00001
|
NM_000540.3(RYR1):c.13525_13531dup (p.Lys4511fs)
|
rs928989953
|
0.00001
|
NM_000540.3(RYR1):c.13672C>T (p.Arg4558Trp)
|
rs771741606
|
0.00001
|
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln)
|
rs118192130
|
0.00001
|
NM_000540.3(RYR1):c.13724A>G (p.Asn4575Ser)
|
rs1568591803
|
0.00001
|
NM_000540.3(RYR1):c.14129+1G>A
|
rs142929172
|
0.00001
|
NM_000540.3(RYR1):c.14209C>T (p.Arg4737Trp)
|
rs193922867
|
0.00001
|
NM_000540.3(RYR1):c.14645C>T (p.Thr4882Met)
|
rs193922884
|
0.00001
|
NM_000540.3(RYR1):c.14701G>A (p.Glu4901Lys)
|
rs764602570
|
0.00001
|
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr)
|
rs118192158
|
0.00001
|
NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter)
|
rs1432807966
|
0.00001
|
NM_000540.3(RYR1):c.15021G>C (p.Gln5007His)
|
rs376293495
|
0.00001
|
NM_000540.3(RYR1):c.1597C>T (p.Arg533Cys)
|
rs193922768
|
0.00001
|
NM_000540.3(RYR1):c.1655G>A (p.Arg552Gln)
|
rs772978260
|
0.00001
|
NM_000540.3(RYR1):c.178G>A (p.Asp60Asn)
|
rs118192160
|
0.00001
|
NM_000540.3(RYR1):c.1951C>T (p.Arg651Ter)
|
rs754522209
|
0.00001
|
NM_000540.3(RYR1):c.1983G>A (p.Trp661Ter)
|
rs1305971341
|
0.00001
|
NM_000540.3(RYR1):c.2113G>A (p.Gly705Arg)
|
rs565825739
|
0.00001
|
NM_000540.3(RYR1):c.2119G>A (p.Gly707Ser)
|
rs376526576
|
0.00001
|
NM_000540.3(RYR1):c.2167G>A (p.Gly723Arg)
|
rs755496104
|
0.00001
|
NM_000540.3(RYR1):c.2682G>T (p.Pro894=)
|
rs919322708
|
0.00001
|
NM_000540.3(RYR1):c.3224G>A (p.Arg1075Gln)
|
rs749040743
|
0.00001
|
NM_000540.3(RYR1):c.3235_3240dup (p.Ser1079_Tyr1080dup)
|
rs797045933
|
0.00001
|
NM_000540.3(RYR1):c.3253G>A (p.Gly1085Ser)
|
rs752849270
|
0.00001
|
NM_000540.3(RYR1):c.326G>A (p.Arg109Gln)
|
rs762278203
|
0.00001
|
NM_000540.3(RYR1):c.328C>T (p.His110Tyr)
|
rs767777113
|
0.00001
|
NM_000540.3(RYR1):c.3301G>A (p.Val1101Met)
|
rs145088074
|
0.00001
|
NM_000540.3(RYR1):c.3362A>G (p.Tyr1121Cys)
|
rs756138074
|
0.00001
|
NM_000540.3(RYR1):c.3381+5G>A
|
rs199691436
|
0.00001
|
NM_000540.3(RYR1):c.3523G>A (p.Glu1175Lys)
|
rs769744438
|
0.00001
|
NM_000540.3(RYR1):c.3535C>T (p.Arg1179Trp)
|
rs763944786
|
0.00001
|
NM_000540.3(RYR1):c.3686_3699del (p.Met1229fs)
|
rs774319202
|
0.00001
|
NM_000540.3(RYR1):c.4160+1G>A
|
rs113460156
|
0.00001
|
NM_000540.3(RYR1):c.46-1G>A
|
rs1238479593
|
0.00001
|
NM_000540.3(RYR1):c.4715T>C (p.Met1572Thr)
|
rs1165213387
|
0.00001
|
NM_000540.3(RYR1):c.4777C>T (p.Arg1593Trp)
|
rs1229854214
|
0.00001
|
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe)
|
rs193922781
|
0.00001
|
NM_000540.3(RYR1):c.6445G>A (p.Val2149Met)
|
rs776830747
|
0.00001
|
NM_000540.3(RYR1):c.658C>T (p.Arg220Cys)
|
rs1220780685
|
0.00001
|
NM_000540.3(RYR1):c.6664-2A>G
|
rs1346257891
|
0.00001
|
NM_000540.3(RYR1):c.6797-1G>A
|
rs1221087983
|
0.00001
|
NM_000540.3(RYR1):c.6823G>A (p.Val2275Met)
|
rs756847750
|
0.00001
|
NM_000540.3(RYR1):c.7007G>A (p.Arg2336His)
|
rs112563513
|
0.00001
|
NM_000540.3(RYR1):c.7027G>A (p.Gly2343Ser)
|
rs536596969
|
0.00001
|
NM_000540.3(RYR1):c.7036G>A (p.Val2346Met)
|
rs193922799
|
0.00001
|
NM_000540.3(RYR1):c.7043A>G (p.Glu2348Gly)
|
rs193922801
|
0.00001
|
NM_000540.3(RYR1):c.7076G>A (p.Arg2359Gln)
|
rs1387126664
|
0.00001
|
NM_000540.3(RYR1):c.7199A>G (p.Asp2400Gly)
|
rs976108591
|
0.00001
|
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys)
|
rs118192174
|
0.00001
|
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr)
|
rs193922809
|
0.00001
|
NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys)
|
rs193922816
|
0.00001
|
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys)
|
rs28933397
|
0.00001
|
NM_000540.3(RYR1):c.7373G>A (p.Arg2458His)
|
rs121918594
|
0.00001
|
NM_000540.3(RYR1):c.7757T>A (p.Val2586Glu)
|
rs577314143
|
0.00001
|
NM_000540.3(RYR1):c.7858C>T (p.Gln2620Ter)
|
rs1365856881
|
0.00001
|
NM_000540.3(RYR1):c.7879G>C (p.Val2627Leu)
|
rs914804033
|
0.00001
|
NM_000540.3(RYR1):c.8026C>T (p.Arg2676Trp)
|
rs193922826
|
0.00001
|
NM_000540.3(RYR1):c.8027G>A (p.Arg2676Gln)
|
rs780455924
|
0.00001
|
NM_000540.3(RYR1):c.8290G>A (p.Glu2764Lys)
|
rs193922829
|
0.00001
|
NM_000540.3(RYR1):c.8291A>G (p.Glu2764Gly)
|
rs1403616422
|
0.00001
|
NM_000540.3(RYR1):c.8310+1G>T
|
rs1970380121
|
0.00001
|
NM_000540.3(RYR1):c.839G>A (p.Arg280Gln)
|
rs1319877486
|
0.00001
|
NM_000540.3(RYR1):c.8888T>C (p.Leu2963Pro)
|
rs756870293
|
0.00001
|
NM_000540.3(RYR1):c.9149T>A (p.Val3050Asp)
|
rs1157851269
|
0.00001
|
NM_000540.3(RYR1):c.9157C>T (p.Arg3053Ter)
|
rs1374378105
|
0.00001
|
NM_000540.3(RYR1):c.9472+1G>A
|
rs776697656
|
0.00001
|
NM_000540.3(RYR1):c.9571G>A (p.Gly3191Arg)
|
rs756331568
|
0.00001
|
NM_000540.3(RYR1):c.9605C>T (p.Pro3202Leu)
|
rs754002399
|
0.00001
|
NM_000540.3(RYR1):c.9623C>T (p.Pro3208Leu)
|
rs758210285
|
0.00001
|
NM_000540.3(RYR1):c.9716T>A (p.Met3239Lys)
|
rs371027185
|
0.00001
|
NM_000540.3(RYR1):c.983G>A (p.Arg328Gln)
|
rs755875230
|
0.00001
|
GRCh37/hg19 19q13.2(chr19:38987608-38993136)
|
|
|
NC_000019.10:g.(?_38585928)_(38586012_?)dup
|
|
|
NC_000019.9:g.(?_39013648)_(39028620_?)dup
|
|
|
NC_000019.9:g.(?_39038853)_(39039080_?)dup
|
|
|
NC_000019.9:g.(?_39038863)_(39039070_?)dup
|
|
|
NC_000019.9:g.(?_39066549)_(39078060_?)del
|
|
|
NM_000540.2(RYR1):c.14970delG
|
rs1568613962
|
|
NM_000540.2(RYR1):c.[14524G>A];[2029C>T]
|
|
|
NM_000540.2(RYR1):c.[14645C>T];[6721C>T]
|
|
|
NM_000540.3(RYR1):c.10018G>A (p.Val3340Met)
|
rs1600892115
|
|
NM_000540.3(RYR1):c.1007dup (p.Pro336_Glu337insTer)
|
|
|
NM_000540.3(RYR1):c.1021G>A (p.Gly341Arg)
|
rs121918592
|
|
NM_000540.3(RYR1):c.10229C>G (p.Pro3410Arg)
|
|
|
NM_000540.3(RYR1):c.10259+1G>A
|
|
|
NM_000540.3(RYR1):c.10347+1G>A
|
rs111436401
|
|
NM_000540.3(RYR1):c.10440+2_10440+22del
|
rs1971306200
|
|
NM_000540.3(RYR1):c.10441-48G>A
|
|
|
NM_000540.3(RYR1):c.10501G>T (p.Asp3501Tyr)
|
rs763259167
|
|
NM_000540.3(RYR1):c.10501dup (p.Asp3501fs)
|
rs1568537774
|
|
NM_000540.3(RYR1):c.10556C>T (p.Pro3519Leu)
|
rs1600921854
|
|
NM_000540.3(RYR1):c.10561G>A (p.Gly3521Ser)
|
|
|
NM_000540.3(RYR1):c.10561G>C (p.Gly3521Arg)
|
rs1420692006
|
|
NM_000540.3(RYR1):c.10626+1G>A
|
|
|
NM_000540.3(RYR1):c.10627-1G>C
|
rs1568539909
|
|
NM_000540.3(RYR1):c.10634_10635del (p.Thr3545fs)
|
|
|
NM_000540.3(RYR1):c.10686+1G>A
|
|
|
NM_000540.3(RYR1):c.10686+2T>C
|
|
|
NM_000540.3(RYR1):c.10687-2A>G
|
rs1600930323
|
|
NM_000540.3(RYR1):c.10725_10726del (p.Tyr3576fs)
|
rs1555790936
|
|
NM_000540.3(RYR1):c.10729C>G (p.Arg3577Gly)
|
rs538497899
|
|
NM_000540.3(RYR1):c.10824+1G>C
|
|
|
NM_000540.3(RYR1):c.10824+2T>G
|
|
|
NM_000540.3(RYR1):c.10922T>C (p.Leu3641Pro)
|
rs1555791151
|
|
NM_000540.3(RYR1):c.10924T>G (p.Tyr3642Asp)
|
rs1971575594
|
|
NM_000540.3(RYR1):c.10937+1G>A
|
rs775682151
|
|
NM_000540.3(RYR1):c.10985_11034+80delinsCCTCAA
|
rs2145723826
|
|
NM_000540.3(RYR1):c.11178_11193+7del
|
rs1600949818
|
|
NM_000540.3(RYR1):c.11315G>T (p.Arg3772Leu)
|
rs193922839
|
|
NM_000540.3(RYR1):c.11320del (p.Ala3774fs)
|
rs768698639
|
|
NM_000540.3(RYR1):c.11320dup (p.Ala3774fs)
|
rs768698639
|
|
NM_000540.3(RYR1):c.11360-1_11374del
|
rs1568549310
|
|
NM_000540.3(RYR1):c.11439+1G>C
|
|
|
NM_000540.3(RYR1):c.11517-2A>G
|
|
|
NM_000540.3(RYR1):c.11557G>C (p.Glu3853Gln)
|
|
|
NM_000540.3(RYR1):c.11591-1G>A
|
|
|
NM_000540.3(RYR1):c.11608+1G>A
|
|
|
NM_000540.3(RYR1):c.11608+1G>C
|
|
|
NM_000540.3(RYR1):c.11690-2A>C
|
rs2145774562
|
|
NM_000540.3(RYR1):c.11697G>C (p.Gln3899His)
|
rs1555794184
|
|
NM_000540.3(RYR1):c.11708G>T (p.Arg3903Leu)
|
|
|
NM_000540.3(RYR1):c.11715G>C (p.Gln3905His)
|
|
|
NM_000540.3(RYR1):c.1186G>A (p.Glu396Lys)
|
rs774919231
|
|
NM_000540.3(RYR1):c.11908-2A>T
|
rs763146574
|
|
NM_000540.3(RYR1):c.11929C>T (p.Gln3977Ter)
|
rs1447117024
|
|
NM_000540.3(RYR1):c.11947C>T (p.Arg3983Cys)
|
rs1600989183
|
|
NM_000540.3(RYR1):c.11958C>G (p.Asp3986Glu)
|
rs193922842
|
|
NM_000540.3(RYR1):c.1198G>A (p.Ala400Thr)
|
rs777016690
|
|
NM_000540.3(RYR1):c.12012G>A (p.Gln4004=)
|
|
|
NM_000540.3(RYR1):c.1202G>T (p.Arg401Leu)
|
rs193922766
|
|
NM_000540.3(RYR1):c.12063_12064dup (p.Met4022fs)
|
rs1419938249
|
|
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu)
|
rs794728696
|
|
NM_000540.3(RYR1):c.12094+2T>C
|
|
|
NM_000540.3(RYR1):c.12095-2A>G
|
|
|
NM_000540.3(RYR1):c.1209C>G (p.Ile403Met)
|
rs118192116
|
|
NM_000540.3(RYR1):c.12110del (p.Gly4037fs)
|
rs1555795308
|
|
NM_000540.3(RYR1):c.12113dup (p.Met4038fs)
|
rs1568562752
|
|
NM_000540.3(RYR1):c.12145G>C (p.Glu4049Gln)
|
|
|
NM_000540.3(RYR1):c.12145_12146delinsTT (p.Glu4049Leu)
|
rs2145790333
|
|
NM_000540.3(RYR1):c.12147A>C (p.Glu4049Asp)
|
|
|
NM_000540.3(RYR1):c.12149C>A (p.Ser4050Tyr)
|
rs193922844
|
|
NM_000540.3(RYR1):c.12319del (p.Ile4107fs)
|
rs754572007
|
|
NM_000540.3(RYR1):c.12495_12496insT (p.Ala4166fs)
|
rs1599625856
|
|
NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter)
|
rs772494345
|
|
NM_000540.3(RYR1):c.12532G>A (p.Gly4178Ser)
|
rs1057518885
|
|
NM_000540.3(RYR1):c.12533G>T (p.Gly4178Val)
|
rs1568576165
|
|
NM_000540.3(RYR1):c.12535C>T (p.Arg4179Cys)
|
rs2145831560
|
|
NM_000540.3(RYR1):c.12544_12570del (p.Ile4182_Glu4190del)
|
rs1238215145
|
|
NM_000540.3(RYR1):c.12590_12591del (p.Ile4196_Ser4197insTer)
|
|
|
NM_000540.3(RYR1):c.12624+1G>A
|
|
|
NM_000540.3(RYR1):c.12652T>C (p.Phe4218Leu)
|
rs1568581720
|
|
NM_000540.3(RYR1):c.12700G>A (p.Val4234Met)
|
|
|
NM_000540.3(RYR1):c.12700G>C (p.Val4234Leu)
|
rs193922852
|
|
NM_000540.3(RYR1):c.12700G>T (p.Val4234Leu)
|
rs193922852
|
|
NM_000540.3(RYR1):c.12727G>A (p.Glu4243Lys)
|
rs1555799628
|
|
NM_000540.3(RYR1):c.12729G>C (p.Glu4243Asp)
|
rs1185644472
|
|
NM_000540.3(RYR1):c.128A>C (p.Asn43Thr)
|
|
|
NM_000540.3(RYR1):c.12978del (p.Glu4327fs)
|
rs1568582893
|
|
NM_000540.3(RYR1):c.13013_13032del (p.Ala4338fs)
|
rs193922856
|
|
NM_000540.3(RYR1):c.13033del (p.Ala4345fs)
|
rs2145845399
|
|
NM_000540.3(RYR1):c.13041_13066del (p.Ala4348fs)
|
|
|
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys)
|
rs193922748
|
|
NM_000540.3(RYR1):c.131G>C (p.Arg44Pro)
|
|
|
NM_000540.3(RYR1):c.13260del (p.Asp4421fs)
|
rs1568583900
|
|
NM_000540.3(RYR1):c.13413del (p.Ile4473fs)
|
|
|
NM_000540.3(RYR1):c.13609_13631dup (p.Val4547fs)
|
rs1599641280
|
|
NM_000540.3(RYR1):c.13654T>A (p.Phe4552Ile)
|
rs1085307909
|
|
NM_000540.3(RYR1):c.13659+2T>A
|
|
|
NM_000540.3(RYR1):c.13660-1G>A
|
|
|
NM_000540.3(RYR1):c.13660-1_13660del
|
|
|
NM_000540.3(RYR1):c.13690C>G (p.Arg4564Gly)
|
rs753208767
|
|
NM_000540.3(RYR1):c.13690C>T (p.Arg4564Trp)
|
rs753208767
|
|
NM_000540.3(RYR1):c.13702C>G (p.Leu4568Val)
|
rs1599646668
|
|
NM_000540.3(RYR1):c.13724A>C (p.Asn4575Thr)
|
rs1568591803
|
|
NM_000540.3(RYR1):c.13764del (p.Glu4590fs)
|
rs1555801843
|
|
NM_000540.3(RYR1):c.13836G>A (p.Trp4612Ter)
|
rs1568593747
|
|
NM_000540.3(RYR1):c.13882_13896dup (p.Met4628_Phe4632dup)
|
rs1555801872
|
|
NM_000540.3(RYR1):c.13892A>C (p.Tyr4631Ser)
|
rs1568593922
|
|
NM_000540.3(RYR1):c.13892A>G (p.Tyr4631Cys)
|
rs1568593922
|
|
NM_000540.3(RYR1):c.13898T>A (p.Leu4633Gln)
|
rs1555801874
|
|
NM_000540.3(RYR1):c.13898T>C (p.Leu4633Pro)
|
rs1555801874
|
|
NM_000540.3(RYR1):c.13904A>G (p.Glu4635Gly)
|
rs1568593984
|
|
NM_000540.3(RYR1):c.13909A>G (p.Thr4637Ala)
|
rs118192166
|
|
NM_000540.3(RYR1):c.13912G>A (p.Gly4638Ser)
|
rs118192136
|
|
NM_000540.3(RYR1):c.13913G>A (p.Gly4638Asp)
|
rs118192135
|
|
NM_000540.3(RYR1):c.13918A>G (p.Met4640Val)
|
rs756850145
|
|
NM_000540.3(RYR1):c.13918A>T (p.Met4640Leu)
|
rs756850145
|
|
NM_000540.3(RYR1):c.13919T>G (p.Met4640Arg)
|
rs1568594068
|
|
NM_000540.3(RYR1):c.13940T>C (p.Leu4647Pro)
|
rs1555801902
|
|
NM_000540.3(RYR1):c.13949T>C (p.Leu4650Pro)
|
rs118192138
|
|
NM_000540.3(RYR1):c.13952A>G (p.His4651Arg)
|
rs118192139
|
|
NM_000540.3(RYR1):c.13998G>A (p.Lys4666=)
|
rs1599649479
|
|
NM_000540.3(RYR1):c.14051T>C (p.Phe4684Ser)
|
rs193922864
|
|
NM_000540.3(RYR1):c.14104T>C (p.Trp4702Arg)
|
rs2145874187
|
|
NM_000540.3(RYR1):c.14126C>G (p.Thr4709Arg)
|
|
|
NM_000540.3(RYR1):c.14129+1G>T
|
rs142929172
|
|
NM_000540.3(RYR1):c.14172+1G>A
|
|
|
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln)
|
rs193922868
|
|
NM_000540.3(RYR1):c.1421A>T (p.Gln474Leu)
|
rs2145381188
|
|
NM_000540.3(RYR1):c.14227G>A (p.Gly4743Ser)
|
rs2145888340
|
|
NM_000540.3(RYR1):c.14285C>T (p.Pro4762Leu)
|
|
|
NM_000540.3(RYR1):c.14339_14340del (p.Lys4780fs)
|
|
|
NM_000540.3(RYR1):c.14364+1G>A
|
rs1974046221
|
|
NM_000540.3(RYR1):c.14378T>G (p.Leu4793Arg)
|
rs118192179
|
|
NM_000540.3(RYR1):c.14385G>A (p.Trp4795Ter)
|
rs565173276
|
|
NM_000540.3(RYR1):c.14386T>C (p.Tyr4796His)
|
rs1568604251
|
|
NM_000540.3(RYR1):c.1438G>A (p.Glu480Lys)
|
rs878854375
|
|
NM_000540.3(RYR1):c.1440+1G>A
|
rs1568445415
|
|
NM_000540.3(RYR1):c.1440+2T>G
|
rs1555767403
|
|
NM_000540.3(RYR1):c.14411A>G (p.His4804Arg)
|
rs1568604308
|
|
NM_000540.3(RYR1):c.14416A>G (p.Asn4806Asp)
|
rs886039586
|
|
NM_000540.3(RYR1):c.14421CTT[2] (p.Phe4810del)
|
rs1555803810
|
|
NM_000540.3(RYR1):c.14423T>A (p.Phe4808Tyr)
|
rs1274780855
|
|
NM_000540.3(RYR1):c.14423T>G (p.Phe4808Cys)
|
rs1274780855
|
|
NM_000540.3(RYR1):c.14437C>T (p.His4813Tyr)
|
rs2145895177
|
|
NM_000540.3(RYR1):c.14438A>G (p.His4813Arg)
|
|
|
NM_000540.3(RYR1):c.14458G>A (p.Gly4820Arg)
|
rs193922873
|
|
NM_000540.3(RYR1):c.14488T>C (p.Ser4830Pro)
|
|
|
NM_000540.3(RYR1):c.14489C>A (p.Ser4830Tyr)
|
rs1555803852
|
|
NM_000540.3(RYR1):c.14490dup (p.Val4831fs)
|
rs2145895408
|
|
NM_000540.3(RYR1):c.14497C>T (p.His4833Tyr)
|
rs193922876
|
|
NM_000540.3(RYR1):c.14512C>G (p.Leu4838Val)
|
rs193922878
|
|
NM_000540.3(RYR1):c.14536G>C (p.Ala4846Pro)
|
rs1974146322
|
|
NM_000540.3(RYR1):c.14537C>T (p.Ala4846Val)
|
rs118192143
|
|
NM_000540.3(RYR1):c.14539G>C (p.Val4847Leu)
|
rs1568605042
|
|
NM_000540.3(RYR1):c.14545G>T (p.Val4849Phe)
|
rs118192168
|
|
NM_000540.3(RYR1):c.14545_14571dup (p.Val4849_Phe4857dup)
|
rs1568605049
|
|
NM_000540.3(RYR1):c.14548T>C (p.Tyr4850His)
|
rs2145896491
|
|
NM_000540.3(RYR1):c.14555A>G (p.Tyr4852Cys)
|
rs886042826
|
|
NM_000540.3(RYR1):c.14558C>T (p.Thr4853Ile)
|
rs1555803922
|
|
NM_000540.3(RYR1):c.14570T>A (p.Phe4857Tyr)
|
rs1974148669
|
|
NM_000540.3(RYR1):c.14573A>G (p.Asn4858Ser)
|
rs1555803933
|
|
NM_000540.3(RYR1):c.14579T>C (p.Phe4860Ser)
|
rs1599665128
|
|
NM_000540.3(RYR1):c.14581C>A (p.Arg4861Ser)
|
|
|
NM_000540.3(RYR1):c.14581C>G (p.Arg4861Gly)
|
rs118192181
|
|
NM_000540.3(RYR1):c.14591A>C (p.Tyr4864Ser)
|
rs118192146
|
|
NM_000540.3(RYR1):c.14592CAA[1] (p.Asn4865del)
|
rs2145896801
|
|
NM_000540.3(RYR1):c.14596A>G (p.Lys4866Glu)
|
|
|
NM_000540.3(RYR1):c.14600G>A (p.Ser4867Asn)
|
rs587784373
|
|
NM_000540.3(RYR1):c.14642T>C (p.Met4881Thr)
|
rs1568605367
|
|
NM_000540.3(RYR1):c.14647-3_14647del
|
rs1568611362
|
|
NM_000540.3(RYR1):c.14650T>C (p.Tyr4884His)
|
rs2145912840
|
|
NM_000540.3(RYR1):c.14659C>T (p.His4887Tyr)
|
rs118192147
|
|
NM_000540.3(RYR1):c.14672G>A (p.Gly4891Asp)
|
rs398123470
|
|
NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp)
|
rs118192150
|
|
NM_000540.3(RYR1):c.14678G>A (p.Arg4893Gln)
|
rs118192151
|
|
NM_000540.3(RYR1):c.14678G>T (p.Arg4893Leu)
|
|
|
NM_000540.3(RYR1):c.14690G>A (p.Gly4897Asp)
|
rs118192148
|
|
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr)
|
rs118192170
|
|
NM_000540.3(RYR1):c.14693T>G (p.Ile4898Ser)
|
|
|
NM_000540.3(RYR1):c.14717C>T (p.Ala4906Val)
|
rs118192153
|
|
NM_000540.3(RYR1):c.14731G>A (p.Glu4911Lys)
|
rs886044196
|
|
NM_000540.3(RYR1):c.14738A>G (p.Tyr4913Cys)
|
rs1429521079
|
|
NM_000540.3(RYR1):c.14759C>T (p.Thr4920Ile)
|
rs118192155
|
|
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del)
|
rs1064794572
|
|
NM_000540.3(RYR1):c.14761_14762delinsAC (p.Phe4921Thr)
|
rs118192171
|
|
NM_000540.3(RYR1):c.14762T>C (p.Phe4921Ser)
|
rs118192156
|
|
NM_000540.3(RYR1):c.14763C>G (p.Phe4921Leu)
|
rs1974410266
|
|
NM_000540.3(RYR1):c.14773GTCATC[1] (p.4925VI[1])
|
rs193922893
|
|
NM_000540.3(RYR1):c.14801A>G (p.Gln4934Arg)
|
rs1568611775
|
|
NM_000540.3(RYR1):c.14801A>T (p.Gln4934Leu)
|
|
|
NM_000540.3(RYR1):c.14803G>A (p.Gly4935Ser)
|
rs2145913747
|
|
NM_000540.3(RYR1):c.14804-1G>T
|
rs193922894
|
|
NM_000540.3(RYR1):c.14807T>G (p.Leu4936Arg)
|
rs1568613061
|
|
NM_000540.3(RYR1):c.14809A>G (p.Ile4937Val)
|
rs2145917369
|
|
NM_000540.3(RYR1):c.14811C>G (p.Ile4937Met)
|
rs2145917373
|
|
NM_000540.3(RYR1):c.14815G>A (p.Asp4939Asn)
|
rs760010175
|
|
NM_000540.3(RYR1):c.14815G>T (p.Asp4939Tyr)
|
|
|
NM_000540.3(RYR1):c.14817C>G (p.Asp4939Glu)
|
rs193922895
|
|
NM_000540.3(RYR1):c.14822T>G (p.Phe4941Cys)
|
rs1568613113
|
|
NM_000540.3(RYR1):c.14868+1G>C
|
rs751692413
|
|
NM_000540.3(RYR1):c.14869-2A>G
|
|
|
NM_000540.3(RYR1):c.14904C>A (p.Tyr4968Ter)
|
rs2145918040
|
|
NM_000540.3(RYR1):c.14929G>C (p.Glu4977Gln)
|
rs200777598
|
|
NM_000540.3(RYR1):c.14938_14939del (p.Thr4980fs)
|
rs1568613455
|
|
NM_000540.3(RYR1):c.14970-1G>A
|
|
|
NM_000540.3(RYR1):c.15016G>A (p.Gly5006Ser)
|
rs1568614042
|
|
NM_000540.3(RYR1):c.15030T>A (p.Tyr5010Ter)
|
rs1064797243
|
|
NM_000540.3(RYR1):c.15047_15048del (p.Gln5016fs)
|
rs1555806119
|
|
NM_000540.3(RYR1):c.1565A>G (p.Tyr522Cys)
|
rs118192162
|
|
NM_000540.3(RYR1):c.1576+1G>A
|
rs2145393963
|
|
NM_000540.3(RYR1):c.1588C>A (p.Arg530Ser)
|
rs757399861
|
|
NM_000540.3(RYR1):c.1588C>T (p.Arg530Cys)
|
rs757399861
|
|
NM_000540.3(RYR1):c.1597C>A (p.Arg533Ser)
|
rs193922768
|
|
NM_000540.3(RYR1):c.1615T>C (p.Phe539Leu)
|
rs193922769
|
|
NM_000540.3(RYR1):c.1615T>G (p.Phe539Val)
|
rs193922769
|
|
NM_000540.3(RYR1):c.1630G>T (p.Asp544Tyr)
|
rs113812662
|
|
NM_000540.3(RYR1):c.164_165+1del
|
|
|
NM_000540.3(RYR1):c.165+1G>A
|
|
|
NM_000540.3(RYR1):c.1654C>T (p.Arg552Trp)
|
rs193922770
|
|
NM_000540.3(RYR1):c.166-2A>C
|
|
|
NM_000540.3(RYR1):c.1673-1G>A
|
|
|
NM_000540.3(RYR1):c.177dup (p.Asp60fs)
|
rs756326114
|
|
NM_000540.3(RYR1):c.179A>G (p.Asp60Gly)
|
rs1555762532
|
|
NM_000540.3(RYR1):c.1835C>A (p.Ala612Asp)
|
rs1600682739
|
|
NM_000540.3(RYR1):c.1840C>G (p.Arg614Gly)
|
rs118192172
|
|
NM_000540.3(RYR1):c.1859T>A (p.Ile620Asn)
|
|
|
NM_000540.3(RYR1):c.1901C>G (p.Thr634Arg)
|
rs1555769544
|
|
NM_000540.3(RYR1):c.1990G>C (p.Glu664Gln)
|
rs1555769818
|
|
NM_000540.3(RYR1):c.1993del (p.Glu664_Val665insTer)
|
rs1568451320
|
|
NM_000540.3(RYR1):c.2044C>G (p.Arg682Gly)
|
rs776252106
|
|
NM_000540.3(RYR1):c.2044C>T (p.Arg682Trp)
|
rs776252106
|
|
NM_000540.3(RYR1):c.212C>A (p.Ser71Tyr)
|
rs118192113
|
|
NM_000540.3(RYR1):c.2168-1G>A
|
|
|
NM_000540.3(RYR1):c.2195del (p.Pro732fs)
|
rs1568452917
|
|
NM_000540.3(RYR1):c.2204_2213del (p.His735fs)
|
|
|
NM_000540.3(RYR1):c.2276A>G (p.Asn759Ser)
|
|
|
NM_000540.3(RYR1):c.2286del (p.Val763fs)
|
rs1967600281
|
|
NM_000540.3(RYR1):c.2287G>A (p.Val763Met)
|
rs369947687
|
|
NM_000540.3(RYR1):c.2290C>T (p.Gln764Ter)
|
rs371455345
|
|
NM_000540.3(RYR1):c.2338dup (p.Val780fs)
|
rs1967603354
|
|
NM_000540.3(RYR1):c.2361-1G>C
|
rs113379223
|
|
NM_000540.3(RYR1):c.2366G>T (p.Arg789Leu)
|
|
|
NM_000540.3(RYR1):c.2505del (p.Pro836fs)
|
rs797045932
|
|
NM_000540.3(RYR1):c.2575C>T (p.Gln859Ter)
|
rs1555770968
|
|
NM_000540.3(RYR1):c.2633A>G (p.His878Arg)
|
|
|
NM_000540.3(RYR1):c.2682G>A (p.Pro894=)
|
rs919322708
|
|
NM_000540.3(RYR1):c.2683-1G>A
|
rs2145434598
|
|
NM_000540.3(RYR1):c.2706del (p.His903fs)
|
rs747409654
|
|
NM_000540.3(RYR1):c.2786+2T>G
|
rs1967928524
|
|
NM_000540.3(RYR1):c.2792T>C (p.Leu931Pro)
|
rs1600706153
|
|
NM_000540.3(RYR1):c.2836G>T (p.Glu946Ter)
|
rs1967997615
|
|
NM_000540.3(RYR1):c.2870+1G>A
|
rs765241115
|
|
NM_000540.3(RYR1):c.2984G>A (p.Trp995Ter)
|
rs1440262870
|
|
NM_000540.3(RYR1):c.3046C>T (p.Arg1016Ter)
|
rs759085500
|
|
NM_000540.3(RYR1):c.3166G>C (p.Asp1056His)
|
rs2145447772
|
|
NM_000540.3(RYR1):c.3178+1G>A
|
rs1161929108
|
|
NM_000540.3(RYR1):c.3178+587A>G
|
|
|
NM_000540.3(RYR1):c.3291C>T (p.Gly1097=)
|
rs1234999215
|
|
NM_000540.3(RYR1):c.3451dup (p.Met1151fs)
|
rs2145461642
|
|
NM_000540.3(RYR1):c.346-1G>A
|
|
|
NM_000540.3(RYR1):c.3557-10_3562del
|
|
|
NM_000540.3(RYR1):c.3713_3715dup (p.Ser1238dup)
|
rs761789667
|
|
NM_000540.3(RYR1):c.3766-1G>A
|
rs2145482463
|
|
NM_000540.3(RYR1):c.3799C>A (p.Pro1267Thr)
|
rs564495912
|
|
NM_000540.3(RYR1):c.3799C>G (p.Pro1267Ala)
|
|
|
NM_000540.3(RYR1):c.3800C>A (p.Pro1267His)
|
rs150495044
|
|
NM_000540.3(RYR1):c.3800C>G (p.Pro1267Arg)
|
rs150495044
|
|
NM_000540.3(RYR1):c.3801dup (p.Cys1268fs)
|
rs587784374
|
|
NM_000540.3(RYR1):c.3805del (p.Leu1269fs)
|
rs1568469505
|
|
NM_000540.3(RYR1):c.3880G>T (p.Val1294Phe)
|
rs1968540857
|
|
NM_000540.3(RYR1):c.38T>G (p.Leu13Arg)
|
rs193922744
|
|
NM_000540.3(RYR1):c.3964_3982dup (p.Asp1328fs)
|
rs1281542312
|
|
NM_000540.3(RYR1):c.4019del (p.Gly1340fs)
|
|
|
NM_000540.3(RYR1):c.4094del (p.Gly1365fs)
|
rs587784375
|
|
NM_000540.3(RYR1):c.424+2T>C
|
rs775192689
|
|
NM_000540.3(RYR1):c.4294-1G>C
|
|
|
NM_000540.3(RYR1):c.4294-2A>G
|
rs1555777043
|
|
NM_000540.3(RYR1):c.4343G>A (p.Trp1448Ter)
|
|
|
NM_000540.3(RYR1):c.4363del (p.Asp1455fs)
|
rs1555777086
|
|
NM_000540.3(RYR1):c.4435C>T (p.Gln1479Ter)
|
rs1968813234
|
|
NM_000540.3(RYR1):c.4454G>A (p.Ser1485Asn)
|
rs1317036540
|
|
NM_000540.3(RYR1):c.4481T>C (p.Val1494Ala)
|
rs767928113
|
|
NM_000540.3(RYR1):c.45+1G>A
|
|
|
NM_000540.3(RYR1):c.4590del (p.Asn1531fs)
|
rs1064793254
|
|
NM_000540.3(RYR1):c.463C>A (p.Gln155Lys)
|
rs193922750
|
|
NM_000540.3(RYR1):c.4707+1G>A
|
rs1568480914
|
|
NM_000540.3(RYR1):c.4708-1G>C
|
|
|
NM_000540.3(RYR1):c.4789C>T (p.Gln1597Ter)
|
rs1568481364
|
|
NM_000540.3(RYR1):c.4837C>T (p.Gln1613Ter)
|
rs1332371891
|
|
NM_000540.3(RYR1):c.4934G>T (p.Arg1645Leu)
|
rs193922778
|
|
NM_000540.3(RYR1):c.4935-1G>A
|
|
|
NM_000540.3(RYR1):c.4935-1G>C
|
|
|
NM_000540.3(RYR1):c.4935-2A>T
|
rs1969238474
|
|
NM_000540.3(RYR1):c.5053T>C (p.Cys1685Arg)
|
|
|
NM_000540.3(RYR1):c.5053T>G (p.Cys1685Gly)
|
|
|
NM_000540.3(RYR1):c.5054G>A (p.Cys1685Tyr)
|
|
|
NM_000540.3(RYR1):c.5055C>G (p.Cys1685Trp)
|
rs761393058
|
|
NM_000540.3(RYR1):c.5119C>T (p.Arg1707Cys)
|
|
|
NM_000540.3(RYR1):c.528G>T (p.Glu176Asp)
|
rs1568436081
|
|
NM_000540.3(RYR1):c.5309C>A (p.Ser1770Ter)
|
rs398123472
|
|
NM_000540.3(RYR1):c.530G>A (p.Arg177His)
|
|
|
NM_000540.3(RYR1):c.533A>G (p.Tyr178Cys)
|
rs193922758
|
|
NM_000540.3(RYR1):c.5435T>C (p.Leu1812Pro)
|
rs1969278145
|
|
NM_000540.3(RYR1):c.5449del (p.Glu1817fs)
|
rs2145545066
|
|
NM_000540.3(RYR1):c.5509_5510del (p.Gln1837fs)
|
rs1555779450
|
|
NM_000540.3(RYR1):c.5628GGA[2] (p.Glu1878del)
|
rs371047178
|
|
NM_000540.3(RYR1):c.5814+1G>A
|
rs1057519173
|
|
NM_000540.3(RYR1):c.5910G>C (p.Gln1970His)
|
rs1555780327
|
|
NM_000540.3(RYR1):c.5915A>T (p.Asn1972Ile)
|
rs1377668924
|
|
NM_000540.3(RYR1):c.5988C>T (p.Arg1996=)
|
rs193922787
|
|
NM_000540.3(RYR1):c.5989G>A (p.Glu1997Lys)
|
rs1366464512
|
|
NM_000540.3(RYR1):c.6127+1G>A
|
rs1283302989
|
|
NM_000540.3(RYR1):c.6220AAG[2] (p.Lys2076del)
|
|
|
NM_000540.3(RYR1):c.6349G>C (p.Val2117Leu)
|
rs193922788
|
|
NM_000540.3(RYR1):c.6350T>C (p.Val2117Ala)
|
|
|
NM_000540.3(RYR1):c.6353G>C (p.Arg2118Pro)
|
rs201649680
|
|
NM_000540.3(RYR1):c.6387C>G (p.Asp2129Glu)
|
rs117886618
|
|
NM_000540.3(RYR1):c.643G>A (p.Gly215Arg)
|
rs1393197844
|
|
NM_000540.3(RYR1):c.6487C>G (p.Arg2163Gly)
|
|
|
NM_000540.3(RYR1):c.6488G>A (p.Arg2163His)
|
rs118192163
|
|
NM_000540.3(RYR1):c.6488G>C (p.Arg2163Pro)
|
rs118192163
|
|
NM_000540.3(RYR1):c.6488G>T (p.Arg2163Leu)
|
rs118192163
|
|
NM_000540.3(RYR1):c.6500T>G (p.Ile2167Ser)
|
|
|
NM_000540.3(RYR1):c.6502G>C (p.Val2168Leu)
|
|
|
NM_000540.3(RYR1):c.6566_6567del (p.Lys2189fs)
|
rs1064794845
|
|
NM_000540.3(RYR1):c.6610C>T (p.His2204Tyr)
|
rs745432757
|
|
NM_000540.3(RYR1):c.6612C>G (p.His2204Gln)
|
rs141646642
|
|
NM_000540.3(RYR1):c.6619del (p.Val2207fs)
|
rs2145585588
|
|
NM_000540.3(RYR1):c.6628G>T (p.Val2210Phe)
|
rs193922792
|
|
NM_000540.3(RYR1):c.6631A>C (p.Met2211Leu)
|
rs1131691876
|
|
NM_000540.3(RYR1):c.6663+1G>A
|
|
|
NM_000540.3(RYR1):c.6663+2T>C
|
|
|
NM_000540.3(RYR1):c.6701G>A (p.Arg2234His)
|
|
|
NM_000540.3(RYR1):c.6707T>G (p.Leu2236Arg)
|
rs1969830618
|
|
NM_000540.3(RYR1):c.6710G>A (p.Cys2237Tyr)
|
rs2145586397
|
|
NM_000540.3(RYR1):c.6796+1G>A
|
rs2145586850
|
|
NM_000540.3(RYR1):c.6814C>T (p.Pro2272Ser)
|
rs777460436
|
|
NM_000540.3(RYR1):c.6856C>G (p.Leu2286Val)
|
|
|
NM_000540.3(RYR1):c.685T>C (p.Cys229Arg)
|
rs1600649879
|
|
NM_000540.3(RYR1):c.6891+2T>C
|
|
|
NM_000540.3(RYR1):c.7006C>G (p.Arg2336Gly)
|
|
|
NM_000540.3(RYR1):c.7006C>T (p.Arg2336Cys)
|
rs1218605372
|
|
NM_000540.3(RYR1):c.7007G>T (p.Arg2336Leu)
|
|
|
NM_000540.3(RYR1):c.7035C>A (p.Ser2345Arg)
|
rs1448949048
|
|
NM_000540.3(RYR1):c.7035C>G (p.Ser2345Arg)
|
rs1448949048
|
|
NM_000540.3(RYR1):c.7039GAG[1] (p.Glu2348del)
|
rs121918596
|
|
NM_000540.3(RYR1):c.7051A>C (p.Asn2351His)
|
|
|
NM_000540.3(RYR1):c.7060G>A (p.Val2354Met)
|
rs746971794
|
|
NM_000540.3(RYR1):c.7084G>A (p.Glu2362Lys)
|
rs762401851
|
|
NM_000540.3(RYR1):c.7090T>G (p.Phe2364Val)
|
rs193922805
|
|
NM_000540.3(RYR1):c.7123G>A (p.Gly2375Arg)
|
rs1568501059
|
|
NM_000540.3(RYR1):c.7123G>C (p.Gly2375Arg)
|
rs1568501059
|
|
NM_000540.3(RYR1):c.7124G>A (p.Gly2375Glu)
|
rs193922807
|
|
NM_000540.3(RYR1):c.7205_7214+14del
|
|
|
NM_000540.3(RYR1):c.7215-1G>T
|
|
|
NM_000540.3(RYR1):c.7233del (p.Glu2412fs)
|
rs2145601896
|
|
NM_000540.3(RYR1):c.7261G>A (p.Ala2421Thr)
|
|
|
NM_000540.3(RYR1):c.7291G>T (p.Asp2431Tyr)
|
rs193922810
|
|
NM_000540.3(RYR1):c.7298T>C (p.Leu2433Pro)
|
rs1600822174
|
|
NM_000540.3(RYR1):c.7303C>T (p.Arg2435Cys)
|
rs1970033550
|
|
NM_000540.3(RYR1):c.7304G>T (p.Arg2435Leu)
|
rs28933396
|
|
NM_000540.3(RYR1):c.7310C>T (p.Ala2437Val)
|
rs193922812
|
|
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp)
|
rs118192124
|
|
NM_000540.3(RYR1):c.7355G>A (p.Arg2452Gln)
|
rs193922815
|
|
NM_000540.3(RYR1):c.7358T>C (p.Ile2453Thr)
|
rs118192123
|
|
NM_000540.3(RYR1):c.7360C>A (p.Arg2454Ser)
|
|
|
NM_000540.3(RYR1):c.7373G>T (p.Arg2458Leu)
|
rs121918594
|
|
NM_000540.3(RYR1):c.742G>A (p.Gly248Arg)
|
rs1801086
|
|
NM_000540.3(RYR1):c.742G>T (p.Gly248Trp)
|
rs1801086
|
|
NM_000540.3(RYR1):c.7444+2T>C
|
|
|
NM_000540.3(RYR1):c.7463_7475del (p.Pro2488fs)
|
rs794727683
|
|
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys)
|
rs118192178
|
|
NM_000540.3(RYR1):c.7523G>A (p.Arg2508His)
|
rs193922818
|
|
NM_000540.3(RYR1):c.7543C>T (p.Gln2515Ter)
|
rs1568503046
|
|
NM_000540.3(RYR1):c.7615-1G>T
|
rs1317181118
|
|
NM_000540.3(RYR1):c.7770_7786dup (p.Thr2596fs)
|
rs2145614578
|
|
NM_000540.3(RYR1):c.7775dup (p.Arg2593fs)
|
rs1281875506
|
|
NM_000540.3(RYR1):c.7777C>G (p.Arg2593Gly)
|
rs756685891
|
|
NM_000540.3(RYR1):c.7835+1G>A
|
rs1057524858
|
|
NM_000540.3(RYR1):c.7835+2T>G
|
rs1970195394
|
|
NM_000540.3(RYR1):c.7836-1G>A
|
rs1568507354
|
|
NM_000540.3(RYR1):c.7836-2A>G
|
|
|
NM_000540.3(RYR1):c.7856T>C (p.Leu2619Pro)
|
rs1263237391
|
|
NM_000540.3(RYR1):c.7926+2T>C
|
rs1555784801
|
|
NM_000540.3(RYR1):c.7927-1G>T
|
|
|
NM_000540.3(RYR1):c.7954dup (p.Trp2652fs)
|
rs1600842678
|
|
NM_000540.3(RYR1):c.8018del (p.His2673fs)
|
rs1568509739
|
|
NM_000540.3(RYR1):c.8024C>A (p.Thr2675Lys)
|
rs1600843056
|
|
NM_000540.3(RYR1):c.8067+1G>A
|
|
|
NM_000540.3(RYR1):c.8067+1G>T
|
|
|
NM_000540.3(RYR1):c.8136dup (p.Asp2713fs)
|
rs761483896
|
|
NM_000540.3(RYR1):c.8196del (p.Gly2733fs)
|
rs1600844997
|
|
NM_000540.3(RYR1):c.8232-1G>A
|
|
|
NM_000540.3(RYR1):c.8617-2A>G
|
|
|
NM_000540.3(RYR1):c.8692+1G>T
|
rs1057523844
|
|
NM_000540.3(RYR1):c.8693-1G>A
|
rs1568514017
|
|
NM_000540.3(RYR1):c.8922dup (p.Ala2975fs)
|
rs2145643810
|
|
NM_000540.3(RYR1):c.8929_8932+4delinsAAGCGG
|
rs1555786205
|
|
NM_000540.3(RYR1):c.8953C>T (p.Arg2985Ter)
|
|
|
NM_000540.3(RYR1):c.9001-2A>G
|
rs774119942
|
|
NM_000540.3(RYR1):c.9130T>C (p.Cys3044Arg)
|
rs1970727401
|
|
NM_000540.3(RYR1):c.9221C>T (p.Ser3074Phe)
|
|
|
NM_000540.3(RYR1):c.9234-1G>C
|
|
|
NM_000540.3(RYR1):c.9310G>A (p.Glu3104Lys)
|
rs193922832
|
|
NM_000540.3(RYR1):c.9345del (p.Ser3116fs)
|
rs2145663047
|
|
NM_000540.3(RYR1):c.9473-2A>G
|
|
|
NM_000540.3(RYR1):c.9499C>T (p.Arg3167Ter)
|
rs1171637302
|
|
NM_000540.3(RYR1):c.958-2A>G
|
|
|
NM_000540.3(RYR1):c.958G>A (p.Glu320Lys)
|
rs1568440962
|
|
NM_000540.3(RYR1):c.9633C>A (p.Asn3211Lys)
|
rs978984063
|
|
NM_000540.3(RYR1):c.9686-1del
|
|
|
NM_000540.3(RYR1):c.9686-7_9705del
|
rs2145681468
|
|
NM_000540.3(RYR1):c.97A>G (p.Lys33Glu)
|
rs193922746
|
|
NM_000540.3(RYR1):c.9827dup (p.Met3276fs)
|
|
|
NM_000540.3(RYR1):c.982C>T (p.Arg328Trp)
|
rs193922762
|
|
NM_000540.3(RYR1):c.9850T>C (p.Trp3284Arg)
|
rs1555788577
|
|
NM_000540.3(RYR1):c.9905dup (p.Pro3303fs)
|
rs749656679
|
|
NM_000540.3(RYR1):c.9910T>C (p.Cys3304Arg)
|
|
|
NM_000540.3(RYR1):c.9978C>A (p.Asn3326Lys)
|
rs367543057
|
|
NM_000540.3(RYR1):c.9983del (p.Gly3328fs)
|
rs2145682923
|
|
NM_000540.3(RYR1):c.[1834G>C];[2045G>A]
|
|
|