|
NM_001267550.2(TTN):c.30683-18C>T
|
rs587780977
|
0.05317
|
|
NM_006073.4(TRDN):c.1805-5dup
|
rs755375052
|
0.02440
|
|
NM_001267550.2(TTN):c.36855G>A (p.Pro12285=)
|
rs535294541
|
0.01666
|
|
NM_020297.4(ABCC9):c.817-6C>T
|
rs879206459
|
0.01299
|
|
NM_020297.4(ABCC9):c.1165-5G>T
|
rs1411076886
|
0.00948
|
|
NM_182961.4(SYNE1):c.23315G>A (p.Arg7772Gln)
|
rs138787771
|
0.00432
|
|
NM_182914.3(SYNE2):c.18632C>T (p.Thr6211Met)
|
rs36215895
|
0.00411
|
|
NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr)
|
rs150170988
|
0.00396
|
|
NM_001134363.3(RBM20):c.3317-9G>T
|
rs899956804
|
0.00373
|
|
NM_001134363.3(RBM20):c.3317-19C>T
|
rs748164628
|
0.00371
|
|
NM_182961.4(SYNE1):c.3188T>C (p.Val1063Ala)
|
rs141464488
|
0.00359
|
|
NM_182961.4(SYNE1):c.11485A>G (p.Thr3829Ala)
|
rs115786671
|
0.00346
|
|
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn)
|
rs201370621
|
0.00344
|
|
NM_182914.3(SYNE2):c.20011G>A (p.Ala6671Thr)
|
rs34820571
|
0.00341
|
|
NM_182914.3(SYNE2):c.20158C>T (p.Arg6720Trp)
|
rs35700578
|
0.00335
|
|
NM_182961.4(SYNE1):c.2882G>A (p.Arg961Gln)
|
rs76646638
|
0.00314
|
|
NM_020297.4(ABCC9):c.1296C>T (p.Pro432=)
|
rs10770865
|
0.00308
|
|
NM_006073.4(TRDN):c.1510G>A (p.Gly504Ser)
|
rs150531306
|
0.00305
|
|
NM_001267550.2(TTN):c.3409G>C (p.Gly1137Arg)
|
rs72647870
|
0.00293
|
|
NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly)
|
rs121908601
|
0.00293
|
|
NM_182961.4(SYNE1):c.4162C>T (p.Arg1388Trp)
|
rs34028822
|
0.00278
|
|
NM_182961.4(SYNE1):c.5101G>T (p.Ala1701Ser)
|
rs149758808
|
0.00275
|
|
NM_182914.3(SYNE2):c.15781G>A (p.Val5261Ile)
|
rs144605670
|
0.00267
|
|
NM_000232.5(SGCB):c.92G>T (p.Ser31Ile)
|
rs115928999
|
0.00262
|
|
NM_182914.3(SYNE2):c.12560A>T (p.Asn4187Ile)
|
rs34480732
|
0.00262
|
|
NM_182914.3(SYNE2):c.20410G>A (p.Asp6804Asn)
|
rs150644129
|
0.00259
|
|
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile)
|
rs146102241
|
0.00255
|
|
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly)
|
rs72648273
|
0.00253
|
|
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe)
|
rs150821281
|
0.00252
|
|
NM_022114.4(PRDM16):c.100G>A (p.Ala34Thr)
|
rs187194973
|
0.00252
|
|
NM_182914.3(SYNE2):c.2560C>G (p.Gln854Glu)
|
rs34449017
|
0.00250
|
|
NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys)
|
rs72648981
|
0.00245
|
|
NM_006393.3(NEBL):c.2654C>T (p.Ser885Phe)
|
rs143584663
|
0.00245
|
|
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln)
|
rs148584617
|
0.00244
|
|
NM_001134363.3(RBM20):c.150A>T (p.Pro50=)
|
rs376936285
|
0.00244
|
|
NM_182914.3(SYNE2):c.19415C>T (p.Ser6472Leu)
|
rs150955173
|
0.00242
|
|
NM_014908.4(DOLK):c.631C>T (p.Arg211Cys)
|
rs145310298
|
0.00238
|
|
NM_000126.4(ETFA):c.186+7A>G
|
rs184587113
|
0.00231
|
|
NM_182914.3(SYNE2):c.7872A>C (p.Glu2624Asp)
|
rs140325055
|
0.00217
|
|
NM_182961.4(SYNE1):c.8230C>A (p.Gln2744Lys)
|
rs145195048
|
0.00217
|
|
NM_001267550.2(TTN):c.36347A>G (p.Glu12116Gly)
|
rs200513156
|
0.00215
|
|
NM_006393.3(NEBL):c.604G>A (p.Gly202Arg)
|
rs137973321
|
0.00210
|
|
NM_002471.4(MYH6):c.4401T>G (p.Ser1467=)
|
rs150081280
|
0.00208
|
|
NM_001386795.1(DTNA):c.1297C>T (p.His433Tyr)
|
rs139872140
|
0.00207
|
|
NM_001458.5(FLNC):c.2507C>A (p.Pro836Gln)
|
rs199652368
|
0.00207
|
|
NM_001130965.3(SUN1):c.1760C>T (p.Ala587Val)
|
rs114701323
|
0.00206
|
|
NM_001267550.2(TTN):c.31399G>A (p.Val10467Ile)
|
rs72650019
|
0.00206
|
|
NM_015374.3(SUN2):c.1354G>A (p.Asp452Asn)
|
rs147351772
|
0.00205
|
|
NM_001267550.2(TTN):c.71705T>C (p.Ile23902Thr)
|
rs55837610
|
0.00204
|
|
NM_001005242.3(PKP2):c.2168-19T>A
|
rs527736735
|
0.00203
|
|
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile)
|
rs72677232
|
0.00202
|
|
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro)
|
rs72646873
|
0.00195
|
|
NM_182961.4(SYNE1):c.19508A>G (p.Asn6503Ser)
|
rs144762960
|
0.00195
|
|
NM_000152.5(GAA):c.676C>G (p.Leu226Val)
|
rs113085339
|
0.00193
|
|
NM_001943.5(DSG2):c.6G>A (p.Ala2=)
|
rs368809971
|
0.00193
|
|
NM_182914.3(SYNE2):c.19964A>T (p.Gln6655Leu)
|
rs149978500
|
0.00193
|
|
NM_006073.4(TRDN):c.1531C>A (p.Pro511Thr)
|
rs146935076
|
0.00183
|
|
NM_020433.5(JPH2):c.856A>G (p.Thr286Ala)
|
rs144022614
|
0.00183
|
|
NM_021167.5(GATAD1):c.176G>C (p.Gly59Ala)
|
rs531449433
|
0.00180
|
|
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp)
|
rs148041814
|
0.00178
|
|
NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro)
|
rs139834542
|
0.00178
|
|
NM_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys)
|
rs149146258
|
0.00178
|
|
NM_001458.5(FLNC):c.7091G>A (p.Arg2364His)
|
rs201672146
|
0.00173
|
|
NM_182914.3(SYNE2):c.11530A>G (p.Ile3844Val)
|
rs140243093
|
0.00173
|
|
NM_002471.4(MYH6):c.2928+5G>A
|
rs28730772
|
0.00172
|
|
NM_182914.3(SYNE2):c.9230C>T (p.Pro3077Leu)
|
rs200742016
|
0.00172
|
|
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu)
|
rs149109801
|
0.00172
|
|
NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val)
|
rs117360770
|
0.00170
|
|
NM_182961.4(SYNE1):c.25091C>T (p.Pro8364Leu)
|
rs148376885
|
0.00169
|
|
NM_022114.4(PRDM16):c.2506G>A (p.Gly836Ser)
|
rs114204766
|
0.00168
|
|
NM_182961.4(SYNE1):c.7976C>A (p.Thr2659Asn)
|
rs117480635
|
0.00166
|
|
NM_001267550.2(TTN):c.40587A>G (p.Glu13529=)
|
rs370597107
|
0.00163
|
|
NM_182961.4(SYNE1):c.23002C>G (p.Leu7668Val)
|
rs150589796
|
0.00163
|
|
NM_001458.5(FLNC):c.5644A>G (p.Ile1882Val)
|
rs184018403
|
0.00160
|
|
NM_182961.4(SYNE1):c.7433C>G (p.Ser2478Cys)
|
rs149030452
|
0.00156
|
|
NM_006393.3(NEBL):c.267C>G (p.Tyr89Ter)
|
rs147622517
|
0.00154
|
|
NM_182961.4(SYNE1):c.25617G>A (p.Glu8539=)
|
rs118187988
|
0.00154
|
|
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe)
|
rs111671438
|
0.00153
|
|
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala)
|
rs142992009
|
0.00153
|
|
NM_001267550.2(TTN):c.68458G>C (p.Ala22820Pro)
|
rs72646880
|
0.00151
|
|
NM_001943.5(DSG2):c.166G>A (p.Val56Met)
|
rs121913013
|
0.00150
|
|
NM_001267550.2(TTN):c.11254+2T>C
|
rs199565715
|
0.00147
|
|
NM_182961.4(SYNE1):c.1141G>A (p.Asp381Asn)
|
rs146366996
|
0.00147
|
|
NM_001267550.2(TTN):c.33416G>C (p.Arg11139Thr)
|
rs72650040
|
0.00146
|
|
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp)
|
rs145933612
|
0.00143
|
|
NM_033118.4(MYLK2):c.4G>A (p.Ala2Thr)
|
rs117502839
|
0.00143
|
|
NM_002471.4(MYH6):c.3979-7T>G
|
rs535111647
|
0.00142
|
|
NM_001267550.2(TTN):c.65747G>A (p.Arg21916Gln)
|
rs148849567
|
0.00141
|
|
NM_000152.5(GAA):c.1352C>G (p.Pro451Arg)
|
rs7215458
|
0.00140
|
|
NM_182914.3(SYNE2):c.16156C>T (p.Leu5386Phe)
|
rs184745422
|
0.00140
|
|
NM_182961.4(SYNE1):c.23259C>T (p.Arg7753=)
|
rs139590550
|
0.00140
|
|
NM_182914.3(SYNE2):c.15928T>C (p.Leu5310=)
|
rs74975380
|
0.00139
|
|
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val)
|
rs151024019
|
0.00138
|
|
NM_182914.3(SYNE2):c.19135C>T (p.Arg6379Cys)
|
rs141741640
|
0.00138
|
|
NM_182961.4(SYNE1):c.23713G>A (p.Glu7905Lys)
|
rs148997223
|
0.00138
|
|
NM_022114.4(PRDM16):c.49G>A (p.Val17Ile)
|
rs183153140
|
0.00137
|
|
NM_182961.4(SYNE1):c.20288C>T (p.Ser6763Leu)
|
rs115534729
|
0.00137
|
|
NM_001105206.3(LAMA4):c.1633C>T (p.Arg545Cys)
|
rs138153075
|
0.00135
|
|
NM_001267550.2(TTN):c.72137C>T (p.Ala24046Val)
|
rs146767076
|
0.00134
|
|
NM_001267550.2(TTN):c.8938G>A (p.Ala2980Thr)
|
rs72647885
|
0.00134
|
|
NM_182961.4(SYNE1):c.23480C>G (p.Ala7827Gly)
|
rs141315921
|
0.00134
|
|
NM_001130965.3(SUN1):c.2237C>T (p.Ala746Val)
|
rs189728809
|
0.00133
|
|
NM_001267550.2(TTN):c.32480C>T (p.Ala10827Val)
|
rs72650030
|
0.00133
|
|
NM_001985.3(ETFB):c.292C>T (p.Arg98Cys)
|
rs147353781
|
0.00133
|
|
NM_006073.4(TRDN):c.1713A>C (p.Glu571Asp)
|
rs201115952
|
0.00133
|
|
NM_182914.3(SYNE2):c.11313G>C (p.Gln3771His)
|
rs144596211
|
0.00133
|
|
NM_182961.4(SYNE1):c.9489A>G (p.Gln3163=)
|
rs35379711
|
0.00133
|
|
NM_001267550.2(TTN):c.36750G>A (p.Pro12250=)
|
rs777458053
|
0.00132
|
|
NM_001267550.2(TTN):c.40223A>G (p.Glu13408Gly)
|
rs183950862
|
0.00132
|
|
NM_182914.3(SYNE2):c.10313G>A (p.Cys3438Tyr)
|
rs144108695
|
0.00132
|
|
NM_182961.4(SYNE1):c.9655G>A (p.Val3219Ile)
|
rs140927945
|
0.00132
|
|
NM_001267550.2(TTN):c.77813G>C (p.Trp25938Ser)
|
rs186681106
|
0.00131
|
|
NM_001267550.2(TTN):c.83315A>T (p.Asn27772Ile)
|
rs578191491
|
0.00131
|
|
NM_001458.5(FLNC):c.7862G>A (p.Arg2621Gln)
|
rs201636548
|
0.00131
|
|
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly)
|
rs28763965
|
0.00131
|
|
NM_182914.3(SYNE2):c.1447G>A (p.Glu483Lys)
|
rs200611311
|
0.00131
|
|
NM_001943.5(DSG2):c.2368C>T (p.His790Tyr)
|
rs114544564
|
0.00130
|
|
NM_001985.3(ETFB):c.521G>A (p.Arg174His)
|
rs141917423
|
0.00130
|
|
NM_013266.4(CTNNA3):c.1453A>T (p.Thr485Ser)
|
rs140913916
|
0.00130
|
|
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys)
|
rs140148105
|
0.00130
|
|
NM_006073.4(TRDN):c.1367A>G (p.Gln456Arg)
|
rs200243235
|
0.00128
|
|
NM_006270.5(RRAS):c.568G>C (p.Val190Leu)
|
rs2230917
|
0.00128
|
|
NM_006440.5(TXNRD2):c.505G>A (p.Gly169Ser)
|
rs138462062
|
0.00128
|
|
NM_182961.4(SYNE1):c.14221C>T (p.Arg4741Cys)
|
rs150062167
|
0.00128
|
|
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro)
|
rs61735272
|
0.00126
|
|
NM_182961.4(SYNE1):c.6934T>C (p.Phe2312Leu)
|
rs138004884
|
0.00126
|
|
NM_001267550.2(TTN):c.32186C>T (p.Thr10729Met)
|
rs115119858
|
0.00125
|
|
NM_015374.3(SUN2):c.467G>A (p.Arg156Gln)
|
rs137925849
|
0.00125
|
|
NM_182961.4(SYNE1):c.16538G>A (p.Arg5513Lys)
|
rs138745849
|
0.00125
|
|
NM_000018.4(ACADVL):c.818G>C (p.Gly273Ala)
|
rs150149784
|
0.00124
|
|
NM_001267550.2(TTN):c.10726A>G (p.Thr3576Ala)
|
rs6433728
|
0.00124
|
|
NM_001267550.2(TTN):c.61322A>G (p.Asn20441Ser)
|
rs147580753
|
0.00124
|
|
NM_001267550.2(TTN):c.2764C>T (p.Arg922Cys)
|
rs72647862
|
0.00123
|
|
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr)
|
rs199865688
|
0.00122
|
|
NM_001267550.2(TTN):c.76645G>A (p.Gly25549Ser)
|
rs181166140
|
0.00121
|
|
NM_004517.4(ILK):c.631C>T (p.Arg211Cys)
|
rs140322345
|
0.00121
|
|
NM_006270.5(RRAS):c.362A>G (p.Lys121Arg)
|
rs138124318
|
0.00121
|
|
NM_182914.3(SYNE2):c.18835G>A (p.Ala6279Thr)
|
rs145871645
|
0.00121
|
|
NM_001458.5(FLNC):c.2180G>A (p.Arg727His)
|
rs200618242
|
0.00120
|
|
NM_001267550.2(TTN):c.66692G>A (p.Arg22231His)
|
rs200971254
|
0.00119
|
|
NM_001267550.2(TTN):c.53096G>A (p.Arg17699His)
|
rs72646808
|
0.00118
|
|
NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln)
|
rs200212521
|
0.00117
|
|
NM_022114.4(PRDM16):c.2290G>A (p.Val764Met)
|
rs149333409
|
0.00117
|
|
NM_022114.4(PRDM16):c.3621A>T (p.Glu1207Asp)
|
rs199972068
|
0.00117
|
|
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys)
|
rs72648958
|
0.00116
|
|
NM_002471.4(MYH6):c.4906C>T (p.Arg1636Cys)
|
rs149460065
|
0.00116
|
|
NM_003803.4(MYOM1):c.1952G>A (p.Arg651Gln)
|
rs184721031
|
0.00116
|
|
NM_013266.4(CTNNA3):c.1936C>T (p.Arg646Cys)
|
rs111425421
|
0.00116
|
|
NM_182914.3(SYNE2):c.19248C>G (p.Pro6416=)
|
rs150363140
|
0.00116
|
|
NM_182914.3(SYNE2):c.7163A>G (p.Glu2388Gly)
|
rs45590135
|
0.00116
|
|
NM_182961.4(SYNE1):c.6521C>T (p.Thr2174Ile)
|
rs141858284
|
0.00116
|
|
NM_182961.4(SYNE1):c.8973G>A (p.Thr2991=)
|
rs146424389
|
0.00116
|
|
NM_000337.6(SGCD):c.213G>A (p.Arg71=)
|
rs74846539
|
0.00115
|
|
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys)
|
rs201213901
|
0.00115
|
|
NM_182961.4(SYNE1):c.6946A>G (p.Ile2316Val)
|
rs116721144
|
0.00114
|
|
NM_000152.5(GAA):c.915G>A (p.Gly305=)
|
rs150343359
|
0.00113
|
|
NM_001267550.2(TTN):c.104774A>C (p.Glu34925Ala)
|
rs201218828
|
0.00113
|
|
NM_003673.4(TCAP):c.32C>T (p.Ser11Leu)
|
rs45495192
|
0.00113
|
|
NM_000152.5(GAA):c.2415G>A (p.Val805=)
|
rs150536507
|
0.00112
|
|
NM_001267550.2(TTN):c.8314G>A (p.Val2772Met)
|
rs143035953
|
0.00111
|
|
NM_006270.5(RRAS):c.379C>T (p.Leu127=)
|
rs145907892
|
0.00111
|
|
NM_014908.4(DOLK):c.1079A>G (p.Tyr360Cys)
|
rs138453255
|
0.00111
|
|
NM_182914.3(SYNE2):c.7643+6T>C
|
rs144143344
|
0.00111
|
|
NM_001267550.2(TTN):c.107605A>G (p.Ser35869Gly)
|
rs201835888
|
0.00110
|
|
NM_001267550.2(TTN):c.5668C>T (p.Arg1890Cys)
|
rs146496197
|
0.00110
|
|
NM_001267550.2(TTN):c.66898G>A (p.Val22300Ile)
|
rs200343420
|
0.00110
|
|
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp)
|
rs201043950
|
0.00110
|
|
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser)
|
rs143978652
|
0.00110
|
|
NM_182961.4(SYNE1):c.22068C>T (p.Thr7356=)
|
rs35686213
|
0.00110
|
|
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro)
|
rs72648930
|
0.00109
|
|
NM_001267550.2(TTN):c.12986G>A (p.Arg4329Lys)
|
rs199560188
|
0.00108
|
|
NM_001267550.2(TTN):c.15542G>C (p.Gly5181Ala)
|
rs201185434
|
0.00108
|
|
NM_001458.5(FLNC):c.5766G>A (p.Ala1922=)
|
rs58914363
|
0.00108
|
|
NM_001267550.2(TTN):c.12733A>C (p.Asn4245His)
|
rs199652066
|
0.00107
|
|
NM_001267550.2(TTN):c.17300G>A (p.Ser5767Asn)
|
rs200692495
|
0.00107
|
|
NM_006270.5(RRAS):c.145T>C (p.Phe49Leu)
|
rs151014532
|
0.00107
|
|
NM_006440.5(TXNRD2):c.1016A>T (p.Gln339Leu)
|
rs200606822
|
0.00106
|
|
NM_182961.4(SYNE1):c.21470G>A (p.Arg7157His)
|
rs34963077
|
0.00106
|
|
NM_182961.4(SYNE1):c.6339T>C (p.Thr2113=)
|
rs141671123
|
0.00106
|
|
NM_001267550.2(TTN):c.61138C>A (p.Leu20380Met)
|
rs201167216
|
0.00105
|
|
NM_001267550.2(TTN):c.91589C>T (p.Pro30530Leu)
|
rs200875379
|
0.00105
|
|
NM_182961.4(SYNE1):c.12350C>T (p.Thr4117Met)
|
rs146567178
|
0.00105
|
|
NM_001035.3(RYR2):c.1135G>A (p.Val379Met)
|
rs199693714
|
0.00104
|
|
NM_001943.5(DSG2):c.221A>G (p.His74Arg)
|
rs201855245
|
0.00104
|
|
NM_006440.5(TXNRD2):c.1195G>A (p.Val399Ile)
|
rs201222740
|
0.00104
|
|
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile)
|
rs139399951
|
0.00104
|
|
NM_182961.4(SYNE1):c.12614C>T (p.Ser4205Leu)
|
rs140359400
|
0.00104
|
|
NM_001267550.2(TTN):c.20630T>C (p.Ile6877Thr)
|
rs142794598
|
0.00103
|
|
NM_001267550.2(TTN):c.94283G>A (p.Arg31428His)
|
rs149375775
|
0.00103
|
|
NM_182914.3(SYNE2):c.3235A>G (p.Thr1079Ala)
|
rs192128801
|
0.00103
|
|
NM_182914.3(SYNE2):c.7483G>A (p.Gly2495Arg)
|
rs201036334
|
0.00103
|
|
NM_001134363.3(RBM20):c.1602C>T (p.Asp534=)
|
rs76048624
|
0.00102
|
|
NM_001134363.3(RBM20):c.280C>T (p.Leu94=)
|
rs182768779
|
0.00102
|
|
NM_001267550.2(TTN):c.21668G>A (p.Arg7223His)
|
rs138853909
|
0.00102
|
|
NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val)
|
rs201562505
|
0.00102
|
|
NM_001267550.2(TTN):c.82691C>T (p.Ala27564Val)
|
rs55634791
|
0.00102
|
|
NM_006440.5(TXNRD2):c.1523G>A (p.Arg508His)
|
rs201391000
|
0.00102
|
|
NM_014908.4(DOLK):c.700A>G (p.Met234Val)
|
rs139787271
|
0.00102
|
|
NM_182961.4(SYNE1):c.18204G>C (p.Leu6068Phe)
|
rs138039375
|
0.00102
|
|
NM_182961.4(SYNE1):c.24956G>A (p.Arg8319Gln)
|
rs148008634
|
0.00102
|
|
NM_000231.3(SGCG):c.539A>T (p.Glu180Val)
|
rs114160429
|
0.00101
|
|
NM_001130965.3(SUN1):c.2148+20C>G
|
rs202040489
|
0.00101
|
|
NM_001267550.2(TTN):c.26818G>A (p.Gly8940Ser)
|
rs201005813
|
0.00101
|
|
NM_006440.5(TXNRD2):c.762C>T (p.Arg254=)
|
rs180876642
|
0.00101
|
|
NM_182961.4(SYNE1):c.14452T>A (p.Tyr4818Asn)
|
rs142422990
|
0.00101
|
|
NM_182961.4(SYNE1):c.6484A>T (p.Ser2162Cys)
|
rs144435836
|
0.00101
|
|
NM_003803.4(MYOM1):c.1978C>G (p.Pro660Ala)
|
rs201104206
|
0.00100
|
|
NM_032578.4(MYPN):c.3792C>T (p.Tyr1264=)
|
rs142307556
|
0.00100
|
|
NM_001267550.2(TTN):c.35876-9T>C
|
rs572783607
|
0.00099
|
|
NM_001267550.2(TTN):c.96998G>A (p.Arg32333His)
|
rs138846756
|
0.00099
|
|
NM_020297.4(ABCC9):c.817-17C>T
|
rs76350525
|
0.00099
|
|
NM_020433.5(JPH2):c.1971G>A (p.Glu657=)
|
rs142333841
|
0.00099
|
|
NM_021167.5(GATAD1):c.96T>G (p.His32Gln)
|
rs532003876
|
0.00099
|
|
NM_182914.3(SYNE2):c.11479G>C (p.Val3827Leu)
|
rs138514054
|
0.00099
|
|
NM_000257.4(MYH7):c.4806C>T (p.Asp1602=)
|
rs142034311
|
0.00098
|
|
NM_001267550.2(TTN):c.107397C>T (p.Ser35799=)
|
rs371480338
|
0.00097
|
|
NM_001267550.2(TTN):c.4671G>A (p.Met1557Ile)
|
rs139192633
|
0.00097
|
|
NM_001267550.2(TTN):c.74891C>T (p.Pro24964Leu)
|
rs72646899
|
0.00097
|
|
NM_004281.4(BAG3):c.1436C>T (p.Ala479Val)
|
rs34656239
|
0.00097
|
|
NM_012082.4(ZFPM2):c.1227G>T (p.Gln409His)
|
rs201439692
|
0.00097
|
|
NM_000126.4(ETFA):c.826A>C (p.Ile276Leu)
|
rs141200145
|
0.00096
|
|
NM_000256.3(MYBPC3):c.2914C>T (p.Arg972Trp)
|
rs193922382
|
0.00096
|
|
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly)
|
rs139139859
|
0.00096
|
|
NM_001267550.2(TTN):c.104251G>C (p.Ala34751Pro)
|
rs185683410
|
0.00096
|
|
NM_001267550.2(TTN):c.18325A>G (p.Lys6109Glu)
|
rs73973139
|
0.00096
|
|
NM_001267550.2(TTN):c.7961G>A (p.Arg2654Lys)
|
rs147207100
|
0.00096
|
|
NM_001267550.2(TTN):c.88721G>A (p.Arg29574His)
|
rs111727915
|
0.00096
|
|
NM_032578.4(MYPN):c.65C>G (p.Ala22Gly)
|
rs145142157
|
0.00096
|
|
NM_182914.3(SYNE2):c.16195G>A (p.Ala5399Thr)
|
rs140265039
|
0.00096
|
|
NM_182914.3(SYNE2):c.1873C>T (p.His625Tyr)
|
rs192061494
|
0.00096
|
|
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr)
|
rs145532615
|
0.00095
|
|
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp)
|
rs140319117
|
0.00095
|
|
NM_015374.3(SUN2):c.1858C>T (p.Arg620Cys)
|
rs141013997
|
0.00095
|
|
NM_001103.4(ACTN2):c.1864G>A (p.Asp622Asn)
|
rs138452803
|
0.00094
|
|
NM_001267550.2(TTN):c.101936C>G (p.Pro33979Arg)
|
rs200238877
|
0.00094
|
|
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr)
|
rs72677243
|
0.00094
|
|
NM_182914.3(SYNE2):c.12572G>A (p.Gly4191Asp)
|
rs145227848
|
0.00094
|
|
NM_182914.3(SYNE2):c.1852C>G (p.Leu618Val)
|
rs199697908
|
0.00094
|
|
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln)
|
rs72650034
|
0.00093
|
|
NM_001267550.2(TTN):c.38311A>G (p.Lys12771Glu)
|
rs551811137
|
0.00093
|
|
NM_001267550.2(TTN):c.45499G>A (p.Val15167Ile)
|
rs183245562
|
0.00093
|
|
NM_001267550.2(TTN):c.65776G>A (p.Val21926Met)
|
rs145527033
|
0.00093
|
|
NM_001318895.3(FHL2):c.85G>A (p.Val29Met)
|
rs56284940
|
0.00093
|
|
NM_001927.4(DES):c.935A>C (p.Asp312Ala)
|
rs148947510
|
0.00093
|
|
NM_024422.6(DSC2):c.34G>A (p.Gly12Arg)
|
rs568391206
|
0.00093
|
|
NM_032578.4(MYPN):c.734C>G (p.Ala245Gly)
|
rs143574079
|
0.00093
|
|
NM_001267550.2(TTN):c.11672C>T (p.Thr3891Ile)
|
rs148164929
|
0.00092
|
|
NM_001267550.2(TTN):c.95582A>G (p.Tyr31861Cys)
|
rs59148238
|
0.00092
|
|
NM_003673.4(TCAP):c.353C>T (p.Ala118Val)
|
rs143233087
|
0.00092
|
|
NM_000182.5(HADHA):c.589G>T (p.Ala197Ser)
|
rs116320983
|
0.00091
|
|
NM_001105206.3(LAMA4):c.514G>A (p.Gly172Ser)
|
rs147695488
|
0.00091
|
|
NM_001267550.2(TTN):c.72379G>A (p.Glu24127Lys)
|
rs149763294
|
0.00091
|
|
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys)
|
rs142885240
|
0.00091
|
|
NM_182914.3(SYNE2):c.16718G>A (p.Arg5573Gln)
|
rs149227847
|
0.00091
|
|
NM_182914.3(SYNE2):c.20161G>A (p.Ala6721Thr)
|
rs140897155
|
0.00091
|
|
NM_182961.4(SYNE1):c.6826-6A>G
|
rs183683592
|
0.00091
|
|
NM_001267550.2(TTN):c.96098G>A (p.Arg32033His)
|
rs200648462
|
0.00090
|
|
NM_001267550.2(TTN):c.48451A>G (p.Thr16151Ala)
|
rs186497293
|
0.00089
|
|
NM_182961.4(SYNE1):c.22554G>A (p.Gly7518=)
|
rs148240825
|
0.00089
|
|
NM_001267550.2(TTN):c.31807G>A (p.Val10603Ile)
|
rs139790668
|
0.00088
|
|
NM_001267550.2(TTN):c.83299C>A (p.Pro27767Thr)
|
rs184643087
|
0.00088
|
|
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser)
|
rs150516929
|
0.00088
|
|
NM_000023.4(SGCA):c.329G>A (p.Arg110Gln)
|
rs145697858
|
0.00087
|
|
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser)
|
rs141213991
|
0.00087
|
|
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser)
|
rs193922380
|
0.00086
|
|
NM_001267550.2(TTN):c.12748G>A (p.Val4250Met)
|
rs201437752
|
0.00086
|
|
NM_001267550.2(TTN):c.70250T>C (p.Ile23417Thr)
|
rs201836227
|
0.00086
|
|
NM_001267550.2(TTN):c.81123G>A (p.Thr27041=)
|
rs181299250
|
0.00086
|
|
NM_001458.5(FLNC):c.1600G>A (p.Glu534Lys)
|
rs201905890
|
0.00086
|
|
NM_006270.5(RRAS):c.573-12G>A
|
rs201690554
|
0.00086
|
|
NM_182914.3(SYNE2):c.13850C>T (p.Thr4617Ile)
|
rs148582250
|
0.00086
|
|
NM_182914.3(SYNE2):c.14792A>G (p.Lys4931Arg)
|
rs147640636
|
0.00086
|
|
NM_182914.3(SYNE2):c.15248A>G (p.Asp5083Gly)
|
rs149617373
|
0.00086
|
|
NM_182961.4(SYNE1):c.9530A>G (p.Asp3177Gly)
|
rs149005052
|
0.00086
|
|
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe)
|
rs145393807
|
0.00085
|
|
NM_001267550.2(TTN):c.102751A>G (p.Met34251Val)
|
rs56173891
|
0.00084
|
|
NM_182914.3(SYNE2):c.3767G>A (p.Arg1256His)
|
rs183356628
|
0.00084
|
|
NM_001130965.3(SUN1):c.2251G>A (p.Asp751Asn)
|
rs200503893
|
0.00083
|
|
NM_001134363.3(RBM20):c.153G>T (p.Pro51=)
|
rs760605118
|
0.00083
|
|
NM_001267550.2(TTN):c.25223C>T (p.Thr8408Ile)
|
rs201432372
|
0.00083
|
|
NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val)
|
rs72648989
|
0.00083
|
|
NM_001267550.2(TTN):c.31757C>A (p.Pro10586Gln)
|
rs200459347
|
0.00083
|
|
NM_001267550.2(TTN):c.44077C>T (p.Arg14693Cys)
|
rs200445568
|
0.00083
|
|
NM_001267550.2(TTN):c.59318A>G (p.Glu19773Gly)
|
rs371719028
|
0.00083
|
|
NM_001267550.2(TTN):c.88340C>G (p.Thr29447Arg)
|
rs140201636
|
0.00083
|
|
NM_001927.4(DES):c.785A>T (p.Glu262Val)
|
rs147327878
|
0.00083
|
|
NM_004415.4(DSP):c.741G>A (p.Ala247=)
|
rs2806234
|
0.00083
|
|
NM_006939.4(SOS2):c.549G>C (p.Leu183Phe)
|
rs137961578
|
0.00083
|
|
NM_032578.4(MYPN):c.3583G>A (p.Val1195Met)
|
rs71534280
|
0.00083
|
|
NM_145046.5(CALR3):c.245A>G (p.Lys82Arg)
|
rs142951029
|
0.00083
|
|
NM_182914.3(SYNE2):c.16619C>G (p.Ala5540Gly)
|
rs146819341
|
0.00083
|
|
NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn)
|
rs72648973
|
0.00082
|
|
NM_001267550.2(TTN):c.89426G>A (p.Arg29809Gln)
|
rs72648238
|
0.00082
|
|
NM_182914.3(SYNE2):c.12673C>T (p.Pro4225Ser)
|
rs149296737
|
0.00082
|
|
NM_182961.4(SYNE1):c.21486C>T (p.Ser7162=)
|
rs139078338
|
0.00082
|
|
NM_182961.4(SYNE1):c.24881A>G (p.Asp8294Gly)
|
rs138407813
|
0.00082
|
|
NM_000126.4(ETFA):c.6C>T (p.Phe2=)
|
rs749929239
|
0.00081
|
|
NM_001267550.2(TTN):c.13976A>G (p.Tyr4659Cys)
|
rs34706803
|
0.00081
|
|
NM_001267550.2(TTN):c.20236G>A (p.Ala6746Thr)
|
rs202108224
|
0.00081
|
|
NM_001267550.2(TTN):c.28970C>T (p.Ser9657Leu)
|
rs200049911
|
0.00081
|
|
NM_022114.4(PRDM16):c.2296G>A (p.Gly766Ser)
|
rs199998420
|
0.00081
|
|
NM_032578.4(MYPN):c.1293C>A (p.Ile431=)
|
rs147184158
|
0.00081
|
|
NM_182914.3(SYNE2):c.14920T>G (p.Ser4974Ala)
|
rs142514437
|
0.00081
|
|
NM_182961.4(SYNE1):c.10800G>A (p.Leu3600=)
|
rs114858512
|
0.00081
|
|
NM_004517.4(ILK):c.65A>G (p.Asn22Ser)
|
rs114115159
|
0.00080
|
|
NM_182961.4(SYNE1):c.21995A>C (p.His7332Pro)
|
rs151247098
|
0.00080
|
|
NM_182961.4(SYNE1):c.8015T>C (p.Leu2672Pro)
|
rs147870520
|
0.00080
|
|
NM_000126.4(ETFA):c.533C>G (p.Thr178Arg)
|
rs140169311
|
0.00079
|
|
NM_001267550.2(TTN):c.65459C>T (p.Thr21820Ile)
|
rs56130023
|
0.00079
|
|
NM_020433.5(JPH2):c.1424G>A (p.Arg475His)
|
rs765754956
|
0.00079
|
|
NM_024422.6(DSC2):c.2636A>G (p.Asp879Gly)
|
rs143342988
|
0.00079
|
|
NM_000117.3(EMD):c.466G>A (p.Gly156Ser)
|
rs144594695
|
0.00078
|
|
NM_000257.4(MYH7):c.261C>T (p.Ile87=)
|
rs148560996
|
0.00078
|
|
NM_001134363.3(RBM20):c.1179C>T (p.Pro393=)
|
rs200588338
|
0.00078
|
|
NM_001267550.2(TTN):c.54812-5A>G
|
rs375343798
|
0.00078
|
|
NM_000258.3(MYL3):c.559+6C>T
|
rs199474709
|
0.00077
|
|
NM_001267550.2(TTN):c.10088G>A (p.Arg3363His)
|
rs148169214
|
0.00077
|
|
NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr)
|
rs370890951
|
0.00076
|
|
NM_000256.3(MYBPC3):c.646G>A (p.Ala216Thr)
|
rs201098973
|
0.00076
|
|
NM_001267550.2(TTN):c.15860C>T (p.Thr5287Met)
|
rs148551876
|
0.00076
|
|
NM_001267550.2(TTN):c.58226G>A (p.Arg19409His)
|
rs201505306
|
0.00076
|
|
NM_001458.5(FLNC):c.6175G>A (p.Val2059Met)
|
rs201333104
|
0.00076
|
|
NM_003803.4(MYOM1):c.1813C>G (p.Leu605Val)
|
rs200153557
|
0.00076
|
|
NM_004453.4(ETFDH):c.832-10T>G
|
rs200911913
|
0.00076
|
|
NM_032578.4(MYPN):c.2228C>T (p.Pro743Leu)
|
rs138583865
|
0.00076
|
|
NM_182914.3(SYNE2):c.13424T>C (p.Val4475Ala)
|
rs146977539
|
0.00076
|
|
NM_000117.3(EMD):c.495G>A (p.Thr165=)
|
rs151074632
|
0.00075
|
|
NM_001267550.2(TTN):c.95242C>T (p.Arg31748Cys)
|
rs142525903
|
0.00075
|
|
NM_001105206.3(LAMA4):c.1959T>C (p.Asp653=)
|
rs143269044
|
0.00074
|
|
NM_001130965.3(SUN1):c.2143G>A (p.Val715Ile)
|
rs200907784
|
0.00074
|
|
NM_001267550.2(TTN):c.53055G>A (p.Met17685Ile)
|
rs200387466
|
0.00074
|
|
NM_002230.4(JUP):c.2059A>G (p.Ile687Val)
|
rs138366708
|
0.00074
|
|
NM_004453.4(ETFDH):c.1049G>A (p.Arg350Gln)
|
rs139306043
|
0.00074
|
|
NM_006393.3(NEBL):c.1838G>A (p.Arg613Gln)
|
rs151035799
|
0.00074
|
|
NM_014908.4(DOLK):c.671A>T (p.Asp224Val)
|
rs17485436
|
0.00074
|
|
NM_152594.3(SPRED1):c.702C>G (p.Ile234Met)
|
rs138553244
|
0.00074
|
|
NM_001005242.3(PKP2):c.1171-10T>C
|
rs200122872
|
0.00073
|
|
NM_001267550.2(TTN):c.21002A>G (p.Lys7001Arg)
|
rs200594798
|
0.00073
|
|
NM_001267550.2(TTN):c.86434A>G (p.Ile28812Val)
|
rs201918596
|
0.00073
|
|
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr)
|
rs72648227
|
0.00073
|
|
NM_001943.5(DSG2):c.216+16G>A
|
rs200239610
|
0.00073
|
|
NM_012082.4(ZFPM2):c.2963A>C (p.Lys988Thr)
|
rs139881948
|
0.00073
|
|
NM_182914.3(SYNE2):c.17033C>T (p.Thr5678Met)
|
rs147365925
|
0.00073
|
|
NM_001035.3(RYR2):c.7619A>G (p.His2540Arg)
|
rs200105499
|
0.00072
|
|
NM_001105206.3(LAMA4):c.2950G>A (p.Val984Ile)
|
rs145648026
|
0.00072
|
|
NM_001267550.2(TTN):c.38902C>T (p.Pro12968Ser)
|
rs192528655
|
0.00072
|
|
NM_020433.5(JPH2):c.128A>G (p.Asn43Ser)
|
rs138992849
|
0.00072
|
|
NM_022114.4(PRDM16):c.3154G>A (p.Ala1052Thr)
|
rs113879347
|
0.00072
|
|
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val)
|
rs55725279
|
0.00071
|
|
NM_001267550.2(TTN):c.19063G>T (p.Asp6355Tyr)
|
rs188878341
|
0.00071
|
|
NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro)
|
rs56399205
|
0.00071
|
|
NM_006939.4(SOS2):c.3614C>T (p.Pro1205Leu)
|
rs113660113
|
0.00071
|
|
NM_014908.4(DOLK):c.1314C>T (p.Leu438=)
|
rs148118523
|
0.00071
|
|
NM_182961.4(SYNE1):c.7647C>T (p.His2549=)
|
rs113163375
|
0.00071
|
|
NM_001005242.3(PKP2):c.1379-2067G>A
|
rs138538072
|
0.00070
|
|
NM_001042475.3(CEP85L):c.1020+17280C>A
|
rs551982604
|
0.00070
|
|
NM_001103.4(ACTN2):c.26A>G (p.Gln9Arg)
|
rs121434525
|
0.00070
|
|
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile)
|
rs201717871
|
0.00070
|
|
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr)
|
rs72648263
|
0.00070
|
|
NM_002471.4(MYH6):c.3980C>T (p.Ala1327Val)
|
rs148558068
|
0.00070
|
|
NM_006073.4(TRDN):c.84C>T (p.Pro28=)
|
rs145992727
|
0.00070
|
|
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys)
|
rs144799937
|
0.00070
|
|
NM_182914.3(SYNE2):c.12293C>A (p.Ala4098Asp)
|
rs142169651
|
0.00070
|
|
NM_182961.4(SYNE1):c.22617C>T (p.Leu7539=)
|
rs111367233
|
0.00070
|
|
NM_001267550.2(TTN):c.76019T>A (p.Val25340Asp)
|
rs200287703
|
0.00069
|
|
NM_002633.3(PGM1):c.247-5696A>T
|
rs200881174
|
0.00069
|
|
NM_006440.5(TXNRD2):c.303A>G (p.Ala101=)
|
rs200076623
|
0.00069
|
|
NM_024334.3(TMEM43):c.424G>A (p.Glu142Lys)
|
rs145619906
|
0.00069
|
|
NM_001130965.3(SUN1):c.235A>G (p.Ser79Gly)
|
rs199999269
|
0.00068
|
|
NM_001267550.2(TTN):c.106920G>A (p.Leu35640=)
|
rs183923129
|
0.00068
|
|
NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu)
|
rs2234704
|
0.00068
|
|
NM_001458.5(FLNC):c.6808G>A (p.Glu2270Lys)
|
rs202223616
|
0.00068
|
|
NM_024422.6(DSC2):c.1789G>T (p.Val597Phe)
|
rs143040393
|
0.00068
|
|
NM_182961.4(SYNE1):c.12255G>A (p.Gln4085=)
|
rs145401144
|
0.00068
|
|
NM_182961.4(SYNE1):c.24985A>G (p.Ser8329Gly)
|
rs142690727
|
0.00068
|
|
NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys)
|
rs146868519
|
0.00067
|
|
NM_001161403.3(LIMS2):c.36C>T (p.Asn12=)
|
rs150714487
|
0.00067
|
|
NM_001276345.2(TNNT2):c.98-81G>A
|
rs45576939
|
0.00067
|
|
NM_004100.5(EYA4):c.866C>T (p.Thr289Met)
|
rs41286200
|
0.00067
|
|
NM_004415.4(DSP):c.782C>T (p.Ala261Val)
|
rs139509870
|
0.00067
|
|
NM_001134363.3(RBM20):c.680G>T (p.Gly227Val)
|
rs202238753
|
0.00066
|
|
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe)
|
rs201944202
|
0.00066
|
|
NM_024422.6(DSC2):c.172T>G (p.Phe58Val)
|
rs138749562
|
0.00066
|
|
NM_182961.4(SYNE1):c.24555C>T (p.Ile8185=)
|
rs201799566
|
0.00066
|
|
NM_001267550.2(TTN):c.40927+16C>T
|
rs369965589
|
0.00065
|
|
NM_006393.3(NEBL):c.994G>A (p.Val332Ile)
|
rs150518045
|
0.00065
|
|
NM_182914.3(SYNE2):c.12636C>G (p.Asp4212Glu)
|
rs752924139
|
0.00065
|
|
NM_182914.3(SYNE2):c.16088A>G (p.His5363Arg)
|
rs150677837
|
0.00065
|
|
NM_001267550.2(TTN):c.50758C>G (p.Pro16920Ala)
|
rs377289817
|
0.00064
|
|
NM_001267550.2(TTN):c.74596A>G (p.Thr24866Ala)
|
rs199784966
|
0.00064
|
|
NM_001267550.2(TTN):c.78896T>A (p.Val26299Asp)
|
rs73036377
|
0.00064
|
|
NM_003803.4(MYOM1):c.5001G>A (p.Glu1667=)
|
rs376007739
|
0.00064
|
|
NM_006393.3(NEBL):c.2080C>T (p.Arg694Trp)
|
rs114875104
|
0.00064
|
|
NM_006440.5(TXNRD2):c.858G>C (p.Arg286Ser)
|
rs201503021
|
0.00064
|
|
NM_014000.3(VCL):c.1555A>C (p.Ile519Leu)
|
rs141033098
|
0.00064
|
|
NM_182914.3(SYNE2):c.14681G>A (p.Arg4894Gln)
|
rs116823334
|
0.00064
|
|
NM_182914.3(SYNE2):c.3506G>A (p.Arg1169His)
|
rs200437377
|
0.00064
|
|
NM_182914.3(SYNE2):c.4178G>A (p.Arg1393Gln)
|
rs117647282
|
0.00064
|
|
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys)
|
rs201312636
|
0.00063
|
|
NM_000257.4(MYH7):c.3973-12A>C
|
rs773718222
|
0.00063
|
|
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln)
|
rs149514924
|
0.00063
|
|
NM_001134363.3(RBM20):c.1451C>T (p.Thr484Ile)
|
rs116442272
|
0.00063
|
|
NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro)
|
rs201412693
|
0.00063
|
|
NM_001267550.2(TTN):c.62385C>A (p.Gly20795=)
|
rs72646848
|
0.00063
|
|
NM_001267550.2(TTN):c.72587G>A (p.Arg24196His)
|
rs200317412
|
0.00063
|
|
NM_001267550.2(TTN):c.77716G>A (p.Glu25906Lys)
|
rs56341835
|
0.00063
|
|
NM_001267550.2(TTN):c.84263G>A (p.Ser28088Asn)
|
rs200450022
|
0.00063
|
|
NM_001267550.2(TTN):c.91601A>T (p.Asp30534Val)
|
rs182549226
|
0.00063
|
|
NM_004453.4(ETFDH):c.627T>C (p.Gly209=)
|
rs148708761
|
0.00063
|
|
NM_015374.3(SUN2):c.28C>T (p.Arg10Cys)
|
rs139611023
|
0.00063
|
|
NM_032578.4(MYPN):c.2703+13G>A
|
rs375320760
|
0.00063
|
|
NM_032578.4(MYPN):c.2925+18C>T
|
rs372714890
|
0.00063
|
|
NM_001267550.2(TTN):c.20798G>C (p.Gly6933Ala)
|
rs200118743
|
0.00062
|
|
NM_001267550.2(TTN):c.92294G>C (p.Arg30765Thr)
|
rs373099440
|
0.00062
|
|
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly)
|
rs147000526
|
0.00062
|
|
NM_000018.4(ACADVL):c.1284G>A (p.Lys428=)
|
rs35501596
|
0.00061
|
|
NM_000182.5(HADHA):c.809C>T (p.Ala270Val)
|
rs141429393
|
0.00061
|
|
NM_000257.4(MYH7):c.1230C>T (p.Tyr410=)
|
rs150885220
|
0.00061
|
|
NM_001035.3(RYR2):c.2935G>T (p.Ala979Ser)
|
rs202015519
|
0.00061
|
|
NM_001267550.2(TTN):c.103688T>C (p.Val34563Ala)
|
rs55945684
|
0.00061
|
|
NM_001267550.2(TTN):c.16313A>G (p.Lys5438Arg)
|
rs190636272
|
0.00061
|
|
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys)
|
rs149470241
|
0.00061
|
|
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met)
|
rs142951505
|
0.00061
|
|
NM_001267550.2(TTN):c.39211+6C>T
|
rs187365142
|
0.00061
|
|
NM_001267550.2(TTN):c.9703+17T>A
|
rs377693857
|
0.00061
|
|
NM_001458.5(FLNC):c.4553A>G (p.Lys1518Arg)
|
rs201635205
|
0.00061
|
|
NM_001943.5(DSG2):c.852T>C (p.Asn284=)
|
rs62095193
|
0.00061
|
|
NM_003803.4(MYOM1):c.4376T>A (p.Ile1459Lys)
|
rs730880167
|
0.00061
|
|
NM_003803.4(MYOM1):c.4740C>T (p.Asp1580=)
|
rs201979586
|
0.00061
|
|
NM_024422.6(DSC2):c.2498G>A (p.Arg833His)
|
rs370325533
|
0.00061
|
|
NM_182961.4(SYNE1):c.21414C>T (p.Ala7138=)
|
rs144904215
|
0.00061
|
|
NM_182961.4(SYNE1):c.22458T>G (p.Asn7486Lys)
|
rs139466191
|
0.00061
|
|
NM_001005242.3(PKP2):c.1955A>G (p.Asn652Ser)
|
rs140852019
|
0.00060
|
|
NM_001267550.2(TTN):c.29042-2A>C
|
rs6716782
|
0.00060
|
|
NM_001458.5(FLNC):c.1519G>A (p.Gly507Arg)
|
rs189525930
|
0.00060
|
|
NM_006073.4(TRDN):c.277C>T (p.Arg93Cys)
|
rs370788759
|
0.00060
|
|
NM_012082.4(ZFPM2):c.3268G>A (p.Val1090Ile)
|
rs191385674
|
0.00060
|
|
NM_022114.4(PRDM16):c.934G>A (p.Asp312Asn)
|
rs191798831
|
0.00060
|
|
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val)
|
rs148185335
|
0.00060
|
|
NM_182961.4(SYNE1):c.5282A>G (p.Gln1761Arg)
|
rs146244669
|
0.00060
|
|
NM_182961.4(SYNE1):c.5421+9G>T
|
rs376218204
|
0.00060
|
|
NM_001035.3(RYR2):c.11092-10A>T
|
rs577119352
|
0.00059
|
|
NM_012082.4(ZFPM2):c.436G>C (p.Val146Leu)
|
rs200168135
|
0.00059
|
|
NM_022114.4(PRDM16):c.2691+12G>T
|
rs201371121
|
0.00059
|
|
NM_182961.4(SYNE1):c.18789G>A (p.Ser6263=)
|
rs150905950
|
0.00059
|
|
NM_000182.5(HADHA):c.1212G>C (p.Val404=)
|
rs116396996
|
0.00058
|
|
NM_001267550.2(TTN):c.24952G>A (p.Val8318Ile)
|
rs200103997
|
0.00058
|
|
NM_001267550.2(TTN):c.25481G>A (p.Arg8494Gln)
|
rs201418615
|
0.00058
|
|
NM_001267550.2(TTN):c.79700A>G (p.Asn26567Ser)
|
rs183844833
|
0.00058
|
|
NM_001927.4(DES):c.656C>T (p.Thr219Ile)
|
rs144901249
|
0.00058
|
|
NM_013266.4(CTNNA3):c.1900G>A (p.Glu634Lys)
|
rs77165728
|
0.00058
|
|
NM_014908.4(DOLK):c.1114T>A (p.Phe372Ile)
|
rs146395561
|
0.00058
|
|
NM_016599.5(MYOZ2):c.488T>C (p.Leu163Ser)
|
rs143345726
|
0.00058
|
|
NM_022114.4(PRDM16):c.2603+6C>T
|
rs374549827
|
0.00058
|
|
NM_032578.4(MYPN):c.1130G>A (p.Arg377Gln)
|
rs147596628
|
0.00058
|
|
NM_182914.3(SYNE2):c.10494A>G (p.Thr3498=)
|
rs201000414
|
0.00058
|
|
NM_182961.4(SYNE1):c.5807A>G (p.His1936Arg)
|
rs112744561
|
0.00058
|
|
NM_001035.3(RYR2):c.3230T>C (p.Val1077Ala)
|
rs202176504
|
0.00057
|
|
NM_001267550.2(TTN):c.103292C>T (p.Thr34431Met)
|
rs192001910
|
0.00057
|
|
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser)
|
rs192766485
|
0.00057
|
|
NM_001267550.2(TTN):c.49357C>A (p.Pro16453Thr)
|
rs200121902
|
0.00057
|
|
NM_003803.4(MYOM1):c.4903G>A (p.Gly1635Ser)
|
rs200773357
|
0.00057
|
|
NM_006270.5(RRAS):c.154-4C>G
|
rs372925843
|
0.00057
|
|
NM_022114.4(PRDM16):c.2449G>A (p.Gly817Ser)
|
rs375308440
|
0.00057
|
|
NM_032578.4(MYPN):c.802C>T (p.Pro268Ser)
|
rs201454261
|
0.00057
|
|
NM_182914.3(SYNE2):c.6345C>G (p.Thr2115=)
|
rs373613471
|
0.00057
|
|
NM_000023.4(SGCA):c.421C>A (p.Arg141Ser)
|
rs35130237
|
0.00056
|
|
NM_000152.5(GAA):c.1438-9G>A
|
rs202211401
|
0.00056
|
|
NM_000152.5(GAA):c.2417C>T (p.Thr806Met)
|
rs139850074
|
0.00056
|
|
NM_001267550.2(TTN):c.296-14T>C
|
rs199951296
|
0.00056
|
|
NM_001267550.2(TTN):c.68792G>A (p.Ser22931Asn)
|
rs201567815
|
0.00056
|
|
NM_001267550.2(TTN):c.71841G>C (p.Lys23947Asn)
|
rs56019808
|
0.00056
|
|
NM_001267550.2(TTN):c.92362G>A (p.Gly30788Ser)
|
rs199891245
|
0.00056
|
|
NM_016203.4(PRKAG2):c.250C>T (p.Arg84Trp)
|
rs61746358
|
0.00056
|
|
NM_024422.6(DSC2):c.270G>A (p.Glu90=)
|
rs138643506
|
0.00056
|
|
NM_182914.3(SYNE2):c.280A>G (p.Ile94Val)
|
rs146748294
|
0.00056
|
|
NM_182961.4(SYNE1):c.1038T>C (p.Asp346=)
|
rs144105769
|
0.00056
|
|
NM_182961.4(SYNE1):c.7458A>G (p.Gln2486=)
|
rs139070088
|
0.00056
|
|
NM_000256.3(MYBPC3):c.3672C>T (p.Asp1224=)
|
rs368221517
|
0.00055
|
|
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu)
|
rs146664754
|
0.00055
|
|
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His)
|
rs191539637
|
0.00055
|
|
NM_001267550.2(TTN):c.62432A>G (p.Asp20811Gly)
|
rs72646849
|
0.00055
|
|
NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys)
|
rs72646859
|
0.00055
|
|
NM_003803.4(MYOM1):c.4686-17G>A
|
rs199520989
|
0.00055
|
|
NM_004415.4(DSP):c.1778A>G (p.Asn593Ser)
|
rs34239595
|
0.00055
|
|
NM_006270.5(RRAS):c.174C>T (p.Tyr58=)
|
rs145282813
|
0.00055
|
|
NM_182914.3(SYNE2):c.10392C>T (p.Cys3464=)
|
rs373646325
|
0.00055
|
|
NM_182961.4(SYNE1):c.26001+8A>C
|
rs145939118
|
0.00055
|
|
NM_001267550.2(TTN):c.39689C>T (p.Ala13230Val)
|
rs148140756
|
0.00054
|
|
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val)
|
rs72646855
|
0.00054
|
|
NM_001267550.2(TTN):c.66576C>T (p.Leu22192=)
|
rs187378247
|
0.00054
|
|
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu)
|
rs113451409
|
0.00054
|
|
NM_003803.4(MYOM1):c.2064G>A (p.Thr688=)
|
rs374462999
|
0.00054
|
|
NM_015374.3(SUN2):c.1647C>T (p.Tyr549=)
|
rs140661422
|
0.00054
|
|
NM_016203.4(PRKAG2):c.472G>A (p.Gly158Ser)
|
rs727504512
|
0.00054
|
|
NM_182914.3(SYNE2):c.15218A>G (p.Asn5073Ser)
|
rs142274277
|
0.00054
|
|
NM_182914.3(SYNE2):c.15848A>G (p.Asp5283Gly)
|
rs138797058
|
0.00054
|
|
NM_182961.4(SYNE1):c.3395+17C>T
|
rs183904423
|
0.00054
|
|
NM_001005242.3(PKP2):c.1379-2054C>T
|
rs144620127
|
0.00053
|
|
NM_001035.3(RYR2):c.1548T>C (p.Asp516=)
|
rs146129084
|
0.00053
|
|
NM_001267550.2(TTN):c.10378C>G (p.Pro3460Ala)
|
rs201735487
|
0.00053
|
|
NM_001458.5(FLNC):c.2125G>A (p.Ala709Thr)
|
rs192725607
|
0.00053
|
|
NM_015374.3(SUN2):c.1043G>A (p.Arg348His)
|
rs142901119
|
0.00053
|
|
NM_021044.4(DHH):c.1134T>A (p.Thr378=)
|
rs144444357
|
0.00053
|
|
NM_022114.4(PRDM16):c.553A>G (p.Met185Val)
|
rs376567517
|
0.00053
|
|
NM_001105206.3(LAMA4):c.674C>T (p.Ala225Val)
|
rs149615862
|
0.00052
|
|
NM_001267550.2(TTN):c.54818C>T (p.Pro18273Leu)
|
rs201035511
|
0.00052
|
|
NM_001267550.2(TTN):c.97386C>T (p.Thr32462=)
|
rs376810671
|
0.00052
|
|
NM_002471.4(MYH6):c.3903G>A (p.Ser1301=)
|
rs201804323
|
0.00052
|
|
NM_005921.2(MAP3K1):c.138G>A (p.Glu46=)
|
rs1051867310
|
0.00052
|
|
NM_182914.3(SYNE2):c.4912T>C (p.Tyr1638His)
|
rs146801942
|
0.00052
|
|
NM_182961.4(SYNE1):c.5259T>C (p.Ile1753=)
|
rs147508177
|
0.00052
|
|
NM_000018.4(ACADVL):c.1473A>G (p.Leu491=)
|
rs150518187
|
0.00051
|
|
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=)
|
rs370332882
|
0.00051
|
|
NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met)
|
rs200236750
|
0.00051
|
|
NM_001103.4(ACTN2):c.927C>T (p.Pro309=)
|
rs145411160
|
0.00051
|
|
NM_001105206.3(LAMA4):c.2398C>T (p.Arg800Cys)
|
rs202184174
|
0.00051
|
|
NM_001134363.3(RBM20):c.529A>T (p.Thr177Ser)
|
rs397516621
|
0.00051
|
|
NM_001267550.2(TTN):c.21404-4A>G
|
rs72648965
|
0.00051
|
|
NM_001267550.2(TTN):c.23378-10C>A
|
rs72648975
|
0.00051
|
|
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu)
|
rs201571580
|
0.00051
|
|
NM_001267550.2(TTN):c.33827-8C>T
|
rs371318311
|
0.00051
|
|
NM_001267550.2(TTN):c.47998G>C (p.Asp16000His)
|
rs201388509
|
0.00051
|
|
NM_001267550.2(TTN):c.55079C>T (p.Pro18360Leu)
|
rs192788942
|
0.00051
|
|
NM_001267550.2(TTN):c.77216C>G (p.Ala25739Gly)
|
rs56391938
|
0.00051
|
|
NM_001267550.2(TTN):c.87611C>G (p.Thr29204Arg)
|
rs72648228
|
0.00051
|
|
NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile)
|
rs180975448
|
0.00051
|
|
NM_002667.5(PLN):c.27C>T (p.Arg9=)
|
rs145623013
|
0.00051
|
|
NM_003803.4(MYOM1):c.2656A>G (p.Ser886Gly)
|
rs199900004
|
0.00051
|
|
NM_006393.3(NEBL):c.2054C>T (p.Ala685Val)
|
rs146218038
|
0.00051
|
|
NM_015374.3(SUN2):c.1542G>A (p.Thr514=)
|
rs144975270
|
0.00051
|
|
NM_016203.4(PRKAG2):c.1318C>T (p.His440Tyr)
|
rs201878539
|
0.00051
|
|
NM_016203.4(PRKAG2):c.712G>A (p.Ala238Thr)
|
rs200736454
|
0.00051
|
|
NM_022114.4(PRDM16):c.142G>A (p.Val48Met)
|
rs199968728
|
0.00051
|
|
NM_033118.4(MYLK2):c.1253C>T (p.Thr418Ile)
|
rs144129296
|
0.00051
|
|
NM_033118.4(MYLK2):c.1778C>T (p.Ala593Val)
|
rs146497334
|
0.00051
|
|
NM_182914.3(SYNE2):c.14844-8C>G
|
rs375500620
|
0.00051
|
|
NM_182914.3(SYNE2):c.20536C>T (p.Pro6846Ser)
|
rs147848144
|
0.00051
|
|
NM_182914.3(SYNE2):c.3773A>G (p.Tyr1258Cys)
|
rs370541277
|
0.00051
|
|
NM_182914.3(SYNE2):c.6096C>T (p.Ile2032=)
|
rs374097374
|
0.00051
|
|
NM_182914.3(SYNE2):c.8567T>G (p.Leu2856Arg)
|
rs73277593
|
0.00051
|
|
NM_182914.3(SYNE2):c.8761A>C (p.Lys2921Gln)
|
rs182683822
|
0.00051
|
|
NM_000182.5(HADHA):c.652G>C (p.Val218Leu)
|
rs71441018
|
0.00050
|
|
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu)
|
rs45496496
|
0.00050
|
|
NM_001005242.3(PKP2):c.1379-2109G>A
|
rs139159464
|
0.00050
|
|
NM_004453.4(ETFDH):c.1375C>T (p.His459Tyr)
|
rs200111698
|
0.00050
|
|
NM_182961.4(SYNE1):c.17542-7G>A
|
rs199762799
|
0.00050
|
|
NM_000023.4(SGCA):c.690G>C (p.Leu230=)
|
rs139454982
|
0.00049
|
|
NM_001005242.3(PKP2):c.1379-2019C>T
|
rs149930872
|
0.00049
|
|
NM_001035.3(RYR2):c.9450-3T>C
|
rs188671846
|
0.00049
|
|
NM_001267550.2(TTN):c.31806C>T (p.Pro10602=)
|
rs370080995
|
0.00049
|
|
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr)
|
rs72650064
|
0.00049
|
|
NM_002230.4(JUP):c.1054+7A>T
|
rs371988639
|
0.00049
|
|
NM_002471.4(MYH6):c.1581+19C>G
|
rs201495432
|
0.00049
|
|
NM_012082.4(ZFPM2):c.679A>G (p.Ile227Val)
|
rs202204708
|
0.00049
|
|
NM_182961.4(SYNE1):c.4461+15C>T
|
rs757969745
|
0.00049
|
|
NM_000258.3(MYL3):c.482-14C>A
|
rs201780962
|
0.00048
|
|
NM_000363.5(TNNI3):c.235C>T (p.Arg79Cys)
|
rs3729712
|
0.00048
|
|
NM_001103.4(ACTN2):c.1519A>G (p.Met507Val)
|
rs144553482
|
0.00048
|
|
NM_001105206.3(LAMA4):c.3055T>C (p.Tyr1019His)
|
rs73532636
|
0.00048
|
|
NM_001267550.2(TTN):c.30181A>C (p.Lys10061Gln)
|
rs184153985
|
0.00048
|
|
NM_001267550.2(TTN):c.31763-1G>A
|
rs202234172
|
0.00048
|
|
NM_001267550.2(TTN):c.55417A>G (p.Arg18473Gly)
|
rs72646822
|
0.00048
|
|
NM_001267550.2(TTN):c.74895A>C (p.Gln24965His)
|
rs201512527
|
0.00048
|
|
NM_004281.4(BAG3):c.855G>A (p.Thr285=)
|
rs147259596
|
0.00048
|
|
NM_004415.4(DSP):c.1574+14G>T
|
rs200443042
|
0.00048
|
|
NM_006440.5(TXNRD2):c.775-19G>A
|
rs189646218
|
0.00048
|
|
NM_015374.3(SUN2):c.1146+7G>A
|
rs369532029
|
0.00048
|
|
NM_022114.4(PRDM16):c.481A>G (p.Asn161Asp)
|
rs374664141
|
0.00048
|
|
NM_024334.3(TMEM43):c.705+7G>A
|
rs201916031
|
0.00048
|
|
NM_182914.3(SYNE2):c.521A>G (p.Lys174Arg)
|
rs139238702
|
0.00048
|
|
NM_001035.3(RYR2):c.8209-3A>G
|
rs376788358
|
0.00047
|
|
NM_001386795.1(DTNA):c.955A>G (p.Met319Val)
|
rs141981161
|
0.00047
|
|
NM_000152.5(GAA):c.859-18G>A
|
rs377222482
|
0.00046
|
|
NM_000256.3(MYBPC3):c.1246G>A (p.Gly416Ser)
|
rs371513491
|
0.00046
|
|
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val)
|
rs200754249
|
0.00046
|
|
NM_000475.5(NR0B1):c.222A>G (p.Pro74=)
|
rs1337374469
|
0.00046
|
|
NM_001035.3(RYR2):c.1822C>T (p.His608Tyr)
|
rs727504718
|
0.00046
|
|
NM_001035.3(RYR2):c.5619A>G (p.Ala1873=)
|
rs373282364
|
0.00046
|
|
NM_001105206.3(LAMA4):c.5344C>T (p.Arg1782Cys)
|
rs145897390
|
0.00046
|
|
NM_001134363.3(RBM20):c.1659G>A (p.Ser553=)
|
rs375626512
|
0.00046
|
|
NM_001267550.2(TTN):c.33G>A (p.Pro11=)
|
rs138331646
|
0.00046
|
|
NM_001267550.2(TTN):c.65276-8T>C
|
rs377484398
|
0.00046
|
|
NM_001267550.2(TTN):c.66391A>G (p.Thr22131Ala)
|
rs140842479
|
0.00046
|
|
NM_001267550.2(TTN):c.85516C>A (p.Gln28506Lys)
|
rs201272728
|
0.00046
|
|
NM_004517.4(ILK):c.669G>T (p.Lys223Asn)
|
rs147368550
|
0.00046
|
|
NM_006939.4(SOS2):c.1071A>G (p.Gln357=)
|
rs111961549
|
0.00046
|
|
NM_014476.6(PDLIM3):c.715G>A (p.Asp239Asn)
|
rs142143310
|
0.00046
|
|
NM_022114.4(PRDM16):c.3110-4G>A
|
rs201495178
|
0.00046
|
|
NM_024334.3(TMEM43):c.1105C>T (p.Leu369Phe)
|
rs144152046
|
0.00046
|
|
NM_182914.3(SYNE2):c.20061+4C>T
|
rs373128678
|
0.00046
|
|
NM_182914.3(SYNE2):c.20632T>G (p.Ser6878Ala)
|
rs562773114
|
0.00046
|
|
NM_182914.3(SYNE2):c.6071C>T (p.Thr2024Ile)
|
rs201401811
|
0.00046
|
|
NM_182961.4(SYNE1):c.14091G>T (p.Met4697Ile)
|
rs141141950
|
0.00046
|
|
NM_182961.4(SYNE1):c.7713-12C>T
|
rs550804556
|
0.00046
|
|
NM_001035.3(RYR2):c.6337G>A (p.Val2113Met)
|
rs186906598
|
0.00045
|
|
NM_001267550.2(TTN):c.10049C>T (p.Pro3350Leu)
|
rs139504522
|
0.00045
|
|
NM_001267550.2(TTN):c.10922T>C (p.Ile3641Thr)
|
rs141027782
|
0.00045
|
|
NM_001267550.2(TTN):c.25619C>T (p.Ser8540Phe)
|
rs201523784
|
0.00045
|
|
NM_001267550.2(TTN):c.41488G>A (p.Val13830Ile)
|
rs149059189
|
0.00045
|
|
NM_001267550.2(TTN):c.51065C>T (p.Ala17022Val)
|
rs372419267
|
0.00045
|
|
NM_001267550.2(TTN):c.80722A>C (p.Arg26908=)
|
rs573877174
|
0.00045
|
|
NM_001267550.2(TTN):c.91311A>G (p.Glu30437=)
|
rs374094732
|
0.00045
|
|
NM_002471.4(MYH6):c.531-19T>A
|
rs374174532
|
0.00045
|
|
NM_003803.4(MYOM1):c.1340-4C>A
|
rs534659625
|
0.00045
|
|
NM_004100.5(EYA4):c.1035G>C (p.Arg345Ser)
|
rs140170914
|
0.00045
|
|
NM_006939.4(SOS2):c.3250A>G (p.Thr1084Ala)
|
rs150752193
|
0.00045
|
|
NM_014908.4(DOLK):c.525T>G (p.Val175=)
|
rs200278288
|
0.00045
|
|
NM_020297.4(ABCC9):c.4512+745_4512+746del
|
rs778425119
|
0.00045
|
|
NM_020297.4(ABCC9):c.75T>C (p.Phe25=)
|
rs201972673
|
0.00045
|
|
NM_022114.4(PRDM16):c.2741T>C (p.Met914Thr)
|
rs201304831
|
0.00045
|
|
NM_000257.4(MYH7):c.3960G>A (p.Glu1320=)
|
rs147797612
|
0.00044
|
|
NM_001122630.2(CDKN1C):c.423G>A (p.Pro141=)
|
rs878853626
|
0.00044
|
|
NM_001267550.2(TTN):c.84871C>T (p.Arg28291Cys)
|
rs192152102
|
0.00044
|
|
NM_003803.4(MYOM1):c.1343T>G (p.Val448Gly)
|
rs372285461
|
0.00044
|
|
NM_006073.4(TRDN):c.611-19A>T
|
rs142018848
|
0.00044
|
|
NM_006440.5(TXNRD2):c.1499G>T (p.Cys500Phe)
|
rs554063995
|
0.00044
|
|
NM_006440.5(TXNRD2):c.592-17C>A
|
rs375350567
|
0.00044
|
|
NM_013266.4(CTNNA3):c.1132C>T (p.Arg378Cys)
|
rs187752783
|
0.00044
|
|
NM_014000.3(VCL):c.1237G>A (p.Ala413Thr)
|
rs146278697
|
0.00044
|
|
NM_020433.5(JPH2):c.1380G>A (p.Ala460=)
|
rs531877510
|
0.00044
|
|
NM_033118.4(MYLK2):c.834T>A (p.Asn278Lys)
|
rs41293104
|
0.00044
|
|
NM_182914.3(SYNE2):c.14385A>T (p.Ala4795=)
|
rs147001272
|
0.00044
|
|
NM_001035.3(RYR2):c.13974A>G (p.Gly4658=)
|
rs374606415
|
0.00043
|
|
NM_001105206.3(LAMA4):c.254A>G (p.Asn85Ser)
|
rs145301300
|
0.00043
|
|
NM_001267550.2(TTN):c.14911T>G (p.Cys4971Gly)
|
rs537312655
|
0.00043
|
|
NM_001267550.2(TTN):c.34856-17A>G
|
rs188686309
|
0.00043
|
|
NM_002471.4(MYH6):c.4905C>T (p.Asn1635=)
|
rs143048583
|
0.00043
|
|
NM_003803.4(MYOM1):c.822C>T (p.Leu274=)
|
rs201409582
|
0.00043
|
|
NM_004415.4(DSP):c.2683T>C (p.Tyr895His)
|
rs375891215
|
0.00043
|
|
NM_182914.3(SYNE2):c.1356A>C (p.Glu452Asp)
|
rs199748407
|
0.00043
|
|
NM_182914.3(SYNE2):c.4994C>T (p.Ala1665Val)
|
rs200143024
|
0.00043
|
|
NM_000256.3(MYBPC3):c.926+8C>T
|
rs377595584
|
0.00042
|
|
NM_001103.4(ACTN2):c.893G>A (p.Arg298His)
|
rs142482143
|
0.00042
|
|
NM_001267550.2(TTN):c.21364G>A (p.Ala7122Thr)
|
rs201394117
|
0.00042
|
|
NM_001267550.2(TTN):c.23121G>A (p.Lys7707=)
|
rs72648971
|
0.00042
|
|
NM_001267550.2(TTN):c.36365-16A>G
|
rs372846061
|
0.00042
|
|
NM_001267550.2(TTN):c.39044-9T>A
|
rs184888200
|
0.00042
|
|
NM_001267550.2(TTN):c.83516G>A (p.Arg27839Gln)
|
rs376820301
|
0.00042
|
|
NM_004415.4(DSP):c.3123C>T (p.Leu1041=)
|
rs149929637
|
0.00042
|
|
NM_006073.4(TRDN):c.546G>A (p.Lys182=)
|
rs377594350
|
0.00042
|
|
NM_006440.5(TXNRD2):c.63C>T (p.Ala21=)
|
rs562298402
|
0.00042
|
|
NM_006440.5(TXNRD2):c.656G>C (p.Gly219Ala)
|
rs199510610
|
0.00042
|
|
NM_006939.4(SOS2):c.2162-10C>T
|
rs375702667
|
0.00042
|
|
NM_022114.4(PRDM16):c.342G>A (p.Val114=)
|
rs35186069
|
0.00042
|
|
NM_152594.3(SPRED1):c.30C>A (p.Asn10Lys)
|
rs201692618
|
0.00042
|
|
NM_182914.3(SYNE2):c.1154A>G (p.Asn385Ser)
|
rs201176149
|
0.00042
|
|
NM_000337.6(SGCD):c.543T>G (p.Pro181=)
|
rs200451694
|
0.00041
|
|
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys)
|
rs199601548
|
0.00041
|
|
NM_001035.3(RYR2):c.12705C>T (p.Phe4235=)
|
rs373606009
|
0.00041
|
|
NM_001035.3(RYR2):c.273+18G>A
|
rs371912039
|
0.00041
|
|
NM_001267550.2(TTN):c.20743G>T (p.Ala6915Ser)
|
rs201728165
|
0.00041
|
|
NM_001267550.2(TTN):c.52022G>A (p.Arg17341Gln)
|
rs370390570
|
0.00041
|
|
NM_001267550.2(TTN):c.72181A>G (p.Met24061Val)
|
rs201482015
|
0.00041
|
|
NM_001267550.2(TTN):c.7523A>G (p.His2508Arg)
|
rs146970027
|
0.00041
|
|
NM_001267550.2(TTN):c.79863G>A (p.Thr26621=)
|
rs186402008
|
0.00041
|
|
NM_001267550.2(TTN):c.81105C>A (p.Thr27035=)
|
rs72648212
|
0.00041
|
|
NM_001267550.2(TTN):c.92241T>C (p.Gly30747=)
|
rs373311745
|
0.00041
|
|
NM_001267550.2(TTN):c.93367G>C (p.Val31123Leu)
|
rs202096200
|
0.00041
|
|
NM_002471.4(MYH6):c.643-5C>T
|
rs199859986
|
0.00041
|
|
NM_006440.5(TXNRD2):c.375-8C>T
|
rs180876844
|
0.00041
|
|
NM_006939.4(SOS2):c.2317G>C (p.Asp773His)
|
rs114711076
|
0.00041
|
|
NM_006939.4(SOS2):c.3744G>T (p.Trp1248Cys)
|
rs138133010
|
0.00041
|
|
NM_006939.4(SOS2):c.3830T>C (p.Leu1277Pro)
|
rs146802994
|
0.00041
|
|
NM_006939.4(SOS2):c.969+20T>G
|
rs559272877
|
0.00041
|
|
NM_016203.4(PRKAG2):c.946+3A>G
|
rs376173303
|
0.00041
|
|
NM_022114.4(PRDM16):c.2142G>A (p.Lys714=)
|
rs200167919
|
0.00041
|
|
NM_032578.4(MYPN):c.1944G>A (p.Glu648=)
|
rs151017803
|
0.00041
|
|
NM_182914.3(SYNE2):c.2402A>G (p.Gln801Arg)
|
rs200848069
|
0.00041
|
|
NM_182914.3(SYNE2):c.9231G>A (p.Pro3077=)
|
rs199659722
|
0.00041
|
|
NM_182961.4(SYNE1):c.10146-19C>G
|
rs372218555
|
0.00041
|
|
NM_182961.4(SYNE1):c.17640C>T (p.Arg5880=)
|
rs144418713
|
0.00041
|
|
NM_001105206.3(LAMA4):c.3054G>T (p.Leu1018Phe)
|
rs183262122
|
0.00040
|
|
NM_001458.5(FLNC):c.2266-3C>T
|
rs369153392
|
0.00040
|
|
NM_005159.5(ACTC1):c.219C>T (p.Ile73=)
|
rs376566924
|
0.00040
|
|
NM_006939.4(SOS2):c.1521G>T (p.Glu507Asp)
|
rs141604342
|
0.00040
|
|
NM_032578.4(MYPN):c.2190G>A (p.Thr730=)
|
rs71584492
|
0.00040
|
|
NM_182961.4(SYNE1):c.2065C>A (p.Arg689=)
|
rs139480065
|
0.00040
|
|
NM_000232.5(SGCB):c.768C>T (p.Ile256=)
|
rs149121189
|
0.00039
|
|
NM_000256.3(MYBPC3):c.1544A>G (p.Asn515Ser)
|
rs181834806
|
0.00039
|
|
NM_001005242.3(PKP2):c.1418A>G (p.Asn473Ser)
|
rs144536197
|
0.00039
|
|
NM_001105206.3(LAMA4):c.863C>G (p.Ala288Gly)
|
rs150084275
|
0.00039
|
|
NM_001232.4(CASQ2):c.928G>A (p.Asp310Asn)
|
rs141314684
|
0.00039
|
|
NM_001267550.2(TTN):c.21148C>T (p.Leu7050=)
|
rs202089818
|
0.00039
|
|
NM_001267550.2(TTN):c.32093G>A (p.Arg10698Gln)
|
rs200161147
|
0.00039
|
|
NM_001267550.2(TTN):c.59319G>A (p.Glu19773=)
|
rs367622770
|
0.00039
|
|
NM_001267550.2(TTN):c.64973-20T>G
|
rs185009265
|
0.00039
|
|
NM_001458.5(FLNC):c.3847A>G (p.Thr1283Ala)
|
rs367860958
|
0.00039
|
|
NM_001943.5(DSG2):c.121C>A (p.His41Asn)
|
rs201499704
|
0.00039
|
|
NM_003803.4(MYOM1):c.4485-16T>C
|
rs200675825
|
0.00039
|
|
NM_004100.5(EYA4):c.768A>G (p.Ser256=)
|
rs147135637
|
0.00039
|
|
NM_004415.4(DSP):c.4500G>T (p.Leu1500=)
|
rs372881903
|
0.00039
|
|
NM_012082.4(ZFPM2):c.1160C>G (p.Pro387Arg)
|
rs181007123
|
0.00039
|
|
NM_020297.4(ABCC9):c.2050G>A (p.Gly684Ser)
|
rs148174226
|
0.00039
|
|
NM_182961.4(SYNE1):c.13572C>T (p.Val4524=)
|
rs111511993
|
0.00039
|
|
NM_000023.4(SGCA):c.1047C>T (p.Ala349=)
|
rs199518562
|
0.00038
|
|
NM_000152.5(GAA):c.2109C>T (p.Tyr703=)
|
rs150728610
|
0.00038
|
|
NM_000152.5(GAA):c.257C>G (p.Pro86Arg)
|
rs2229222
|
0.00038
|
|
NM_000152.5(GAA):c.600C>T (p.Val200=)
|
rs150895924
|
0.00038
|
|
NM_000182.5(HADHA):c.1153C>T (p.Leu385=)
|
rs139485335
|
0.00038
|
|
NM_000256.3(MYBPC3):c.3787C>T (p.Arg1263Trp)
|
rs370338674
|
0.00038
|
|
NM_001035.3(RYR2):c.10381A>G (p.Met3461Val)
|
rs147512481
|
0.00038
|
|
NM_001035.3(RYR2):c.11496C>T (p.Asp3832=)
|
rs397516505
|
0.00038
|
|
NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys)
|
rs200092869
|
0.00038
|
|
NM_001267550.2(TTN):c.32557C>T (p.Pro10853Ser)
|
rs201738153
|
0.00038
|
|
NM_001267550.2(TTN):c.87137T>G (p.Met29046Arg)
|
rs143975327
|
0.00038
|
|
NM_001943.5(DSG2):c.1781T>C (p.Leu594Pro)
|
rs199681901
|
0.00038
|
|
NM_001943.5(DSG2):c.3266G>A (p.Gly1089Asp)
|
rs200264407
|
0.00038
|
|
NM_002633.3(PGM1):c.1290C>T (p.Tyr430=)
|
rs140357031
|
0.00038
|
|
NM_004281.4(BAG3):c.821C>T (p.Ser274Leu)
|
rs143919208
|
0.00038
|
|
NM_004415.4(DSP):c.6296C>T (p.Pro2099Leu)
|
rs201625698
|
0.00038
|
|
NM_006073.4(TRDN):c.1538-19T>A
|
rs142237914
|
0.00038
|
|
NM_006440.5(TXNRD2):c.662+11C>G
|
rs373734411
|
0.00038
|
|
NM_006939.4(SOS2):c.3503C>A (p.Ser1168Tyr)
|
rs143166880
|
0.00038
|
|
NM_015374.3(SUN2):c.686-12C>T
|
rs372413342
|
0.00038
|
|
NM_020297.4(ABCC9):c.1200G>A (p.Thr400=)
|
rs150096625
|
0.00038
|
|
NM_021167.5(GATAD1):c.249+13G>A
|
rs548757932
|
0.00038
|
|
NM_182914.3(SYNE2):c.6511C>G (p.Leu2171Val)
|
rs199743242
|
0.00038
|
|
NM_182961.4(SYNE1):c.12564C>T (p.Ser4188=)
|
rs141202420
|
0.00038
|
|
NM_001159699.2(FHL1):c.225C>A (p.Arg75=)
|
rs143791173
|
0.00037
|
|
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr)
|
rs72648940
|
0.00037
|
|
NM_001267550.2(TTN):c.76987G>A (p.Asp25663Asn)
|
rs143186270
|
0.00037
|
|
NM_001267550.2(TTN):c.98500G>A (p.Glu32834Lys)
|
rs199761901
|
0.00037
|
|
NM_001386795.1(DTNA):c.1480G>A (p.Asp494Asn)
|
rs144880521
|
0.00037
|
|
NM_001458.5(FLNC):c.1147C>G (p.Pro383Ala)
|
rs770615073
|
0.00037
|
|
NM_001943.5(DSG2):c.716T>C (p.Val239Ala)
|
rs200997703
|
0.00037
|
|
NM_004100.5(EYA4):c.979G>A (p.Asp327Asn)
|
rs144415484
|
0.00037
|
|
NM_020297.4(ABCC9):c.407-13T>C
|
rs199717786
|
0.00037
|
|
NM_032578.4(MYPN):c.1662A>C (p.Ala554=)
|
rs71584488
|
0.00037
|
|
NM_033118.4(MYLK2):c.783G>A (p.Pro261=)
|
rs144621796
|
0.00037
|
|
NM_181703.4(GJA5):c.995G>A (p.Arg332His)
|
rs116551187
|
0.00037
|
|
NM_182914.3(SYNE2):c.2270T>C (p.Leu757Ser)
|
rs200319405
|
0.00037
|
|
NM_000152.5(GAA):c.2652G>A (p.Thr884=)
|
rs143642048
|
0.00036
|
|
NM_000256.3(MYBPC3):c.1286C>T (p.Ala429Val)
|
rs370412052
|
0.00036
|
|
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys)
|
rs199669878
|
0.00036
|
|
NM_000256.3(MYBPC3):c.906-7G>T
|
rs397516079
|
0.00036
|
|
NM_000257.4(MYH7):c.2349C>T (p.Arg783=)
|
rs139882431
|
0.00036
|
|
NM_000258.3(MYL3):c.307+15C>T
|
rs184025552
|
0.00036
|
|
NM_001134363.3(RBM20):c.2887A>G (p.Lys963Glu)
|
rs371951525
|
0.00036
|
|
NM_001267550.2(TTN):c.2599A>G (p.Ser867Gly)
|
rs148631577
|
0.00036
|
|
NM_001267550.2(TTN):c.64654A>G (p.Ile21552Val)
|
rs201247592
|
0.00036
|
|
NM_001267550.2(TTN):c.69904G>A (p.Val23302Ile)
|
rs190421400
|
0.00036
|
|
NM_001267550.2(TTN):c.75361A>G (p.Ile25121Val)
|
rs199508062
|
0.00036
|
|
NM_001318895.3(FHL2):c.337C>T (p.Arg113Cys)
|
rs140148322
|
0.00036
|
|
NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met)
|
rs145611185
|
0.00036
|
|
NM_002471.4(MYH6):c.5140C>A (p.Arg1714=)
|
rs140651265
|
0.00036
|
|
NM_003803.4(MYOM1):c.4177A>G (p.Lys1393Glu)
|
rs371239754
|
0.00036
|
|
NM_004415.4(DSP):c.6319G>C (p.Val2107Leu)
|
rs144263721
|
0.00036
|
|
NM_004415.4(DSP):c.8199G>C (p.Thr2733=)
|
rs145085696
|
0.00036
|
|
NM_006393.3(NEBL):c.1962+7A>G
|
rs371630900
|
0.00036
|
|
NM_006393.3(NEBL):c.908A>G (p.Glu303Gly)
|
rs139610204
|
0.00036
|
|
NM_006440.5(TXNRD2):c.650C>A (p.Ser217Tyr)
|
rs201913959
|
0.00036
|
|
NM_016203.4(PRKAG2):c.251G>A (p.Arg84Gln)
|
rs201953758
|
0.00036
|
|
NM_182914.3(SYNE2):c.13156C>G (p.Gln4386Glu)
|
rs140277551
|
0.00036
|
|
NM_182914.3(SYNE2):c.169C>T (p.Leu57=)
|
rs370692798
|
0.00036
|
|
NM_182914.3(SYNE2):c.2936A>G (p.His979Arg)
|
rs546054742
|
0.00036
|
|
NM_182961.4(SYNE1):c.18973-18G>T
|
rs146316647
|
0.00036
|
|
NM_182961.4(SYNE1):c.309+14A>G
|
rs368595280
|
0.00036
|
|
NM_000257.4(MYH7):c.2334C>T (p.Asp778=)
|
rs2069544
|
0.00035
|
|
NM_001105206.3(LAMA4):c.141G>A (p.Pro47=)
|
rs141926228
|
0.00035
|
|
NM_001267550.2(TTN):c.96016G>A (p.Val32006Met)
|
rs191786700
|
0.00035
|
|
NM_003803.4(MYOM1):c.3183G>A (p.Pro1061=)
|
rs374873325
|
0.00035
|
|
NM_005921.2(MAP3K1):c.2598C>T (p.Ala866=)
|
rs201679580
|
0.00035
|
|
NM_006393.3(NEBL):c.2148+4T>C
|
rs193163659
|
0.00035
|
|
NM_016203.4(PRKAG2):c.247C>T (p.Pro83Ser)
|
rs148791216
|
0.00035
|
|
NM_020433.5(JPH2):c.1015G>A (p.Gly339Ser)
|
rs368290474
|
0.00035
|
|
NM_024334.3(TMEM43):c.484G>A (p.Asp162Asn)
|
rs150425166
|
0.00035
|
|
NM_024422.6(DSC2):c.1775C>T (p.Ala592Val)
|
rs140232809
|
0.00035
|
|
NM_000152.5(GAA):c.1754+11C>T
|
rs371644603
|
0.00034
|
|
NM_000256.3(MYBPC3):c.471C>T (p.Phe157=)
|
rs150291001
|
0.00034
|
|
NM_001005242.3(PKP2):c.2355T>C (p.Asp785=)
|
rs142362933
|
0.00034
|
|
NM_001035.3(RYR2):c.463+6dup
|
rs397516534
|
0.00034
|
|
NM_001035.3(RYR2):c.7925G>A (p.Arg2642Lys)
|
rs377473366
|
0.00034
|
|
NM_001122630.2(CDKN1C):c.788-5C>T
|
rs775227462
|
0.00034
|
|
NM_001161403.3(LIMS2):c.153C>T (p.Pro51=)
|
rs144872986
|
0.00034
|
|
NM_001267550.2(TTN):c.14998C>T (p.Arg5000Cys)
|
rs369933152
|
0.00034
|
|
NM_001267550.2(TTN):c.16515T>C (p.Ser5505=)
|
rs201625116
|
0.00034
|
|
NM_001267550.2(TTN):c.27485C>T (p.Thr9162Met)
|
rs199793620
|
0.00034
|
|
NM_001267550.2(TTN):c.28187C>T (p.Pro9396Leu)
|
rs373065549
|
0.00034
|
|
NM_001267550.2(TTN):c.99866-10C>T
|
rs773128928
|
0.00034
|
|
NM_001458.5(FLNC):c.7991-19C>T
|
rs537052947
|
0.00034
|
|
NM_001943.5(DSG2):c.829-19_829-18del
|
rs111241096
|
0.00034
|
|
NM_003673.4(TCAP):c.60C>G (p.Ala20=)
|
rs146502276
|
0.00034
|
|
NM_004100.5(EYA4):c.749C>A (p.Thr250Asn)
|
rs143757415
|
0.00034
|
|
NM_004415.4(DSP):c.2288A>G (p.Tyr763Cys)
|
rs113967308
|
0.00034
|
|
NM_004453.4(ETFDH):c.572G>A (p.Gly191Asp)
|
rs147219158
|
0.00034
|
|
NM_006939.4(SOS2):c.2854G>A (p.Asp952Asn)
|
rs200387871
|
0.00034
|
|
NM_015374.3(SUN2):c.432G>A (p.Ser144=)
|
rs140094524
|
0.00034
|
|
NM_020433.5(JPH2):c.783G>C (p.Ala261=)
|
rs201085317
|
0.00034
|
|
NM_022114.4(PRDM16):c.1632C>T (p.Asp544=)
|
rs199499877
|
0.00034
|
|
NM_022114.4(PRDM16):c.1726G>A (p.Glu576Lys)
|
rs201517929
|
0.00034
|
|
NM_032578.4(MYPN):c.3124C>T (p.Arg1042Cys)
|
rs151282801
|
0.00034
|
|
NM_182914.3(SYNE2):c.8964C>T (p.Leu2988=)
|
rs374107455
|
0.00034
|
|
NM_182961.4(SYNE1):c.26212C>T (p.Arg8738Cys)
|
rs144206837
|
0.00034
|
|
NM_001232.4(CASQ2):c.874G>T (p.Ala292Ser)
|
rs200643387
|
0.00033
|
|
NM_003803.4(MYOM1):c.136T>C (p.Tyr46His)
|
rs201544310
|
0.00033
|
|
NM_003803.4(MYOM1):c.2385-9T>C
|
rs199829674
|
0.00033
|
|
NM_004281.4(BAG3):c.230C>T (p.Pro77Leu)
|
rs141355480
|
0.00033
|
|
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys)
|
rs147415451
|
0.00033
|
|
NM_004415.4(DSP):c.6295C>A (p.Pro2099Thr)
|
rs200752536
|
0.00033
|
|
NM_006073.4(TRDN):c.1472-13C>T
|
rs367962513
|
0.00033
|
|
NM_006393.3(NEBL):c.827T>C (p.Met276Thr)
|
rs141285752
|
0.00033
|
|
NM_022114.4(PRDM16):c.2187C>G (p.Phe729Leu)
|
rs200109766
|
0.00033
|
|
NM_000231.3(SGCG):c.196-16T>C
|
rs370930080
|
0.00032
|
|
NM_000257.4(MYH7):c.4188G>A (p.Arg1396=)
|
rs200852418
|
0.00032
|
|
NM_000432.4(MYL2):c.342G>A (p.Leu114=)
|
rs199572927
|
0.00032
|
|
NM_001103.4(ACTN2):c.2601C>T (p.Pro867=)
|
rs147245615
|
0.00032
|
|
NM_001232.4(CASQ2):c.320-18C>T
|
rs376871374
|
0.00032
|
|
NM_001267550.2(TTN):c.11583C>T (p.Thr3861=)
|
rs11899887
|
0.00032
|
|
NM_001267550.2(TTN):c.156C>T (p.Pro52=)
|
rs72647842
|
0.00032
|
|
NM_001267550.2(TTN):c.39128-14T>C
|
rs200916144
|
0.00032
|
|
NM_001267550.2(TTN):c.62943T>C (p.Thr20981=)
|
rs184863287
|
0.00032
|
|
NM_001267550.2(TTN):c.72723C>G (p.Val24241=)
|
rs372701206
|
0.00032
|
|
NM_001267550.2(TTN):c.81302G>T (p.Gly27101Val)
|
rs201490050
|
0.00032
|
|
NM_001267550.2(TTN):c.8902+16T>A
|
rs66507451
|
0.00032
|
|
NM_001267550.2(TTN):c.9789C>T (p.Ser3263=)
|
rs138313387
|
0.00032
|
|
NM_001943.5(DSG2):c.2192A>C (p.Gln731Pro)
|
rs202063433
|
0.00032
|
|
NM_002471.4(MYH6):c.1749C>T (p.Tyr583=)
|
rs187508349
|
0.00032
|
|
NM_002471.4(MYH6):c.3230A>T (p.Gln1077Leu)
|
rs377716628
|
0.00032
|
|
NM_004415.4(DSP):c.531C>G (p.Gly177=)
|
rs138865799
|
0.00032
|
|
NM_020297.4(ABCC9):c.1165-20del
|
rs768812471
|
0.00032
|
|
NM_020297.4(ABCC9):c.1887G>T (p.Glu629Asp)
|
rs150036969
|
0.00032
|
|
NM_022114.4(PRDM16):c.488C>T (p.Ala163Val)
|
rs201182055
|
0.00032
|
|
NM_024422.6(DSC2):c.1269G>A (p.Leu423=)
|
rs376049846
|
0.00032
|
|
NM_000182.5(HADHA):c.1689+11C>T
|
rs367640259
|
0.00031
|
|
NM_000182.5(HADHA):c.79C>T (p.Arg27Cys)
|
rs143832445
|
0.00031
|
|
NM_001018005.2(TPM1):c.177A>G (p.Lys59=)
|
rs149346709
|
0.00031
|
|
NM_001035.3(RYR2):c.11092-6A>T
|
rs397516501
|
0.00031
|
|
NM_001035.3(RYR2):c.11646+18T>A
|
rs368433873
|
0.00031
|
|
NM_001035.3(RYR2):c.12842C>T (p.Thr4281Met)
|
rs201829896
|
0.00031
|
|
NM_001035.3(RYR2):c.3067-16_3067-15del
|
rs727504453
|
0.00031
|
|
NM_001105206.3(LAMA4):c.4626T>C (p.Ile1542=)
|
rs150791451
|
0.00031
|
|
NM_001134363.3(RBM20):c.1057G>A (p.Glu353Lys)
|
rs554690506
|
0.00031
|
|
NM_001134363.3(RBM20):c.3648C>T (p.Ser1216=)
|
rs554167951
|
0.00031
|
|
NM_001161403.3(LIMS2):c.11+1328G>A
|
rs368890874
|
0.00031
|
|
NM_001267550.2(TTN):c.101480G>A (p.Arg33827His)
|
rs376403708
|
0.00031
|
|
NM_001267550.2(TTN):c.104277G>A (p.Lys34759=)
|
rs377391143
|
0.00031
|
|
NM_001267550.2(TTN):c.1212C>T (p.Tyr404=)
|
rs139187345
|
0.00031
|
|
NM_001267550.2(TTN):c.14898T>C (p.Ala4966=)
|
rs370105333
|
0.00031
|
|
NM_001267550.2(TTN):c.26019C>T (p.His8673=)
|
rs370266918
|
0.00031
|
|
NM_001267550.2(TTN):c.36448+15C>G
|
rs368164089
|
0.00031
|
|
NM_001267550.2(TTN):c.63273T>C (p.Asp21091=)
|
rs374168580
|
0.00031
|
|
NM_001267550.2(TTN):c.70491C>T (p.Thr23497=)
|
rs372382315
|
0.00031
|
|
NM_001267550.2(TTN):c.86526T>G (p.Val28842=)
|
rs72648226
|
0.00031
|
|
NM_001267550.2(TTN):c.93215G>A (p.Arg31072His)
|
rs141817409
|
0.00031
|
|
NM_001267550.2(TTN):c.93524G>A (p.Arg31175His)
|
rs72648251
|
0.00031
|
|
NM_001267550.2(TTN):c.9487C>T (p.Arg3163Cys)
|
rs140664731
|
0.00031
|
|
NM_001458.5(FLNC):c.5954C>T (p.Ser1985Leu)
|
rs200415625
|
0.00031
|
|
NM_002471.4(MYH6):c.4359+8A>C
|
rs188675676
|
0.00031
|
|
NM_002471.4(MYH6):c.5112G>A (p.Ala1704=)
|
rs150450178
|
0.00031
|
|
NM_003803.4(MYOM1):c.1644-11C>T
|
rs201735572
|
0.00031
|
|
NM_006440.5(TXNRD2):c.1308C>T (p.Phe436=)
|
rs190301927
|
0.00031
|
|
NM_006939.4(SOS2):c.2640A>G (p.Ser880=)
|
rs146730136
|
0.00031
|
|
NM_014000.3(VCL):c.1626C>T (p.Leu542=)
|
rs150402791
|
0.00031
|
|
NM_014476.6(PDLIM3):c.169A>G (p.Thr57Ala)
|
rs142951316
|
0.00031
|
|
NM_020297.4(ABCC9):c.2154C>T (p.Ile718=)
|
rs74067815
|
0.00031
|
|
NM_022114.4(PRDM16):c.2394C>T (p.Gly798=)
|
rs374283575
|
0.00031
|
|
NM_024334.3(TMEM43):c.442+7G>A
|
rs373590238
|
0.00031
|
|
NM_033118.4(MYLK2):c.1176C>T (p.Asp392=)
|
rs147099889
|
0.00031
|
|
NM_181703.4(GJA5):c.111G>A (p.Leu37=)
|
rs138362351
|
0.00031
|
|
NM_182914.3(SYNE2):c.4910A>G (p.Tyr1637Cys)
|
rs143578863
|
0.00031
|
|
NM_182961.4(SYNE1):c.12609G>A (p.Glu4203=)
|
rs186937478
|
0.00031
|
|
NM_182961.4(SYNE1):c.12953C>T (p.Thr4318Met)
|
rs200825287
|
0.00031
|
|
NM_182961.4(SYNE1):c.20730G>C (p.Leu6910=)
|
rs367864272
|
0.00031
|
|
NM_000023.4(SGCA):c.189C>T (p.His63=)
|
rs373770886
|
0.00030
|
|
NM_000256.3(MYBPC3):c.772+10C>T
|
rs375525278
|
0.00030
|
|
NM_000258.3(MYL3):c.482-17C>T
|
rs201289145
|
0.00030
|
|
NM_001035.3(RYR2):c.1292+19G>A
|
rs368198276
|
0.00030
|
|
NM_001035.3(RYR2):c.9923A>G (p.Asn3308Ser)
|
rs201081663
|
0.00030
|
|
NM_001267550.2(TTN):c.32071G>A (p.Ala10691Thr)
|
rs371452173
|
0.00030
|
|
NM_001267550.2(TTN):c.39057G>A (p.Pro13019=)
|
rs371945519
|
0.00030
|
|
NM_001267550.2(TTN):c.54207A>G (p.Pro18069=)
|
rs372686070
|
0.00030
|
|
NM_001267550.2(TTN):c.70097T>C (p.Val23366Ala)
|
rs372782502
|
0.00030
|
|
NM_001267550.2(TTN):c.72001G>A (p.Ala24001Thr)
|
rs180828370
|
0.00030
|
|
NM_001267550.2(TTN):c.88733G>A (p.Arg29578His)
|
rs374147064
|
0.00030
|
|
NM_001267550.2(TTN):c.97099C>T (p.Arg32367Cys)
|
rs202064385
|
0.00030
|
|
NM_001386795.1(DTNA):c.51G>A (p.Gln17=)
|
rs368000651
|
0.00030
|
|
NM_001943.5(DSG2):c.1280+18G>C
|
rs141175168
|
0.00030
|
|
NM_002471.4(MYH6):c.4611G>A (p.Val1537=)
|
rs142983918
|
0.00030
|
|
NM_003803.4(MYOM1):c.4743G>A (p.Val1581=)
|
rs756428714
|
0.00030
|
|
NM_003803.4(MYOM1):c.588C>T (p.Ser196=)
|
rs116496572
|
0.00030
|
|
NM_004281.4(BAG3):c.381A>T (p.Ala127=)
|
rs140594879
|
0.00030
|
|
NM_004415.4(DSP):c.1574+7C>T
|
rs375717504
|
0.00030
|
|
NM_006393.3(NEBL):c.682C>G (p.Gln228Glu)
|
rs143644290
|
0.00030
|
|
NM_182914.3(SYNE2):c.15446G>A (p.Arg5149His)
|
rs142206385
|
0.00030
|
|
NM_182961.4(SYNE1):c.11343C>T (p.Gly3781=)
|
rs150121030
|
0.00030
|
|
NM_000018.4(ACADVL):c.1678+15C>T
|
rs371402802
|
0.00029
|
|
NM_000182.5(HADHA):c.315-12T>C
|
rs531815564
|
0.00029
|
|
NM_000258.3(MYL3):c.307+16G>A
|
rs759754750
|
0.00029
|
|
NM_000337.6(SGCD):c.510G>A (p.Glu170=)
|
rs368838376
|
0.00029
|
|
NM_001018005.2(TPM1):c.375-5T>C
|
rs377061868
|
0.00029
|
|
NM_001018005.2(TPM1):c.851+6C>T
|
rs375043184
|
0.00029
|
|
NM_001035.3(RYR2):c.649A>G (p.Ile217Val)
|
rs200642525
|
0.00029
|
|
NM_001134363.3(RBM20):c.567G>T (p.Gln189His)
|
rs377623370
|
0.00029
|
|
NM_001267550.2(TTN):c.14451A>G (p.Thr4817=)
|
rs370621465
|
0.00029
|
|
NM_001267550.2(TTN):c.27498G>A (p.Ser9166=)
|
rs372528823
|
0.00029
|
|
NM_001267550.2(TTN):c.4208G>C (p.Arg1403Thr)
|
rs531590921
|
0.00029
|
|
NM_001267550.2(TTN):c.49944G>A (p.Lys16648=)
|
rs190021597
|
0.00029
|
|
NM_001267550.2(TTN):c.75504T>G (p.Ser25168Arg)
|
rs375204371
|
0.00029
|
|
NM_001267550.2(TTN):c.75682C>T (p.Pro25228Ser)
|
rs377226540
|
0.00029
|
|
NM_001267550.2(TTN):c.79085T>C (p.Met26362Thr)
|
rs529839486
|
0.00029
|
|
NM_001267550.2(TTN):c.88306+8T>C
|
rs369690199
|
0.00029
|
|
NM_001458.5(FLNC):c.1474A>G (p.Lys492Glu)
|
rs118056738
|
0.00029
|
|
NM_001458.5(FLNC):c.294G>A (p.Glu98=)
|
rs201839252
|
0.00029
|
|
NM_002230.4(JUP):c.459C>T (p.Asp153=)
|
rs376289528
|
0.00029
|
|
NM_002471.4(MYH6):c.5410C>A (p.Gln1804Lys)
|
rs144571463
|
0.00029
|
|
NM_002471.4(MYH6):c.5566-7C>T
|
rs200509899
|
0.00029
|
|
NM_002471.4(MYH6):c.831G>T (p.Gln277His)
|
rs140660481
|
0.00029
|
|
NM_002471.4(MYH6):c.981C>T (p.Ser327=)
|
rs148407931
|
0.00029
|
|
NM_003803.4(MYOM1):c.992G>A (p.Arg331Gln)
|
rs199610460
|
0.00029
|
|
NM_004415.4(DSP):c.5991G>A (p.Gly1997=)
|
rs538244495
|
0.00029
|
|
NM_006073.4(TRDN):c.992-17T>G
|
rs189142809
|
0.00029
|
|
NM_006270.5(RRAS):c.345-4G>A
|
rs377672475
|
0.00029
|
|
NM_006440.5(TXNRD2):c.229+15A>G
|
rs370756162
|
0.00029
|
|
NM_006939.4(SOS2):c.3952C>T (p.Pro1318Ser)
|
rs140995728
|
0.00029
|
|
NM_014000.3(VCL):c.366G>A (p.Leu122=)
|
rs199562976
|
0.00029
|
|
NM_014476.6(PDLIM3):c.963C>T (p.Ala321=)
|
rs148518020
|
0.00029
|
|
NM_020297.4(ABCC9):c.1557G>A (p.Glu519=)
|
rs143346402
|
0.00029
|
|
NM_020297.4(ABCC9):c.2262T>C (p.Tyr754=)
|
rs145561881
|
0.00029
|
|
NM_020297.4(ABCC9):c.305T>C (p.Leu102Pro)
|
rs374659816
|
0.00029
|
|
NM_020433.5(JPH2):c.648G>A (p.Lys216=)
|
rs796219248
|
0.00029
|
|
NM_022114.4(PRDM16):c.885-4G>A
|
rs374365034
|
0.00029
|
|
NM_024422.6(DSC2):c.1559T>C (p.Ile520Thr)
|
rs561310777
|
0.00029
|
|
NM_152594.3(SPRED1):c.944C>T (p.Pro315Leu)
|
rs115440602
|
0.00029
|
|
NM_182914.3(SYNE2):c.11164-4C>T
|
rs370961691
|
0.00029
|
|
NM_182914.3(SYNE2):c.17158A>G (p.Ser5720Gly)
|
rs151044620
|
0.00029
|
|
NM_182914.3(SYNE2):c.3641T>A (p.Met1214Lys)
|
rs201166748
|
0.00029
|
|
NM_182961.4(SYNE1):c.24660C>T (p.His8220=)
|
rs150811468
|
0.00029
|
|
NM_182961.4(SYNE1):c.7122G>A (p.Glu2374=)
|
rs141883657
|
0.00029
|
|
NM_000182.5(HADHA):c.1690-13G>A
|
rs368557552
|
0.00028
|
|
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys)
|
rs571985775
|
0.00028
|
|
NM_001105206.3(LAMA4):c.2614C>G (p.Pro872Ala)
|
rs180931319
|
0.00028
|
|
NM_001105206.3(LAMA4):c.4436G>A (p.Arg1479His)
|
rs140346737
|
0.00028
|
|
NM_001134363.3(RBM20):c.1378T>C (p.Leu460=)
|
rs374014662
|
0.00028
|
|
NM_001134363.3(RBM20):c.3115C>T (p.Pro1039Ser)
|
rs727503392
|
0.00028
|
|
NM_001232.4(CASQ2):c.861C>A (p.Ile287=)
|
rs143718767
|
0.00028
|
|
NM_001267550.2(TTN):c.21993T>C (p.Pro7331=)
|
rs373223049
|
0.00028
|
|
NM_001267550.2(TTN):c.28507G>A (p.Val9503Ile)
|
rs202160275
|
0.00028
|
|
NM_001267550.2(TTN):c.45273C>T (p.Asn15091=)
|
rs72677223
|
0.00028
|
|
NM_001267550.2(TTN):c.53226T>C (p.Tyr17742=)
|
rs202200861
|
0.00028
|
|
NM_001267550.2(TTN):c.65729T>C (p.Ile21910Thr)
|
rs146941600
|
0.00028
|
|
NM_001267550.2(TTN):c.75762G>T (p.Val25254=)
|
rs374003257
|
0.00028
|
|
NM_001267550.2(TTN):c.99162G>A (p.Lys33054=)
|
rs368686031
|
0.00028
|
|
NM_001458.5(FLNC):c.5374G>A (p.Ala1792Thr)
|
rs201348102
|
0.00028
|
|
NM_004281.4(BAG3):c.771C>T (p.Pro257=)
|
rs200212999
|
0.00028
|
|
NM_004453.4(ETFDH):c.441T>C (p.Phe147=)
|
rs138149265
|
0.00028
|
|
NM_013266.4(CTNNA3):c.1192G>A (p.Val398Ile)
|
rs145043626
|
0.00028
|
|
NM_013266.4(CTNNA3):c.1937G>A (p.Arg646His)
|
rs370269225
|
0.00028
|
|
NM_013266.4(CTNNA3):c.2573T>C (p.Leu858Ser)
|
rs41313840
|
0.00028
|
|
NM_033118.4(MYLK2):c.473+11C>T
|
rs373880854
|
0.00028
|
|
NM_182914.3(SYNE2):c.15132T>A (p.Leu5044=)
|
rs201429908
|
0.00028
|
|
NM_000337.6(SGCD):c.193-17T>G
|
rs201079829
|
0.00027
|
|
NM_001103.4(ACTN2):c.1484C>T (p.Thr495Met)
|
rs200248944
|
0.00027
|
|
NM_001267550.2(TTN):c.102696C>T (p.Val34232=)
|
rs202180775
|
0.00027
|
|
NM_001267550.2(TTN):c.30433+15A>T
|
rs371872220
|
0.00027
|
|
NM_001267550.2(TTN):c.41330-7T>A
|
rs373636988
|
0.00027
|
|
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala)
|
rs34706299
|
0.00027
|
|
NM_001267550.2(TTN):c.57646A>G (p.Ile19216Val)
|
rs374058726
|
0.00027
|
|
NM_001267550.2(TTN):c.67833C>T (p.Tyr22611=)
|
rs375538420
|
0.00027
|
|
NM_001458.5(FLNC):c.5220C>T (p.His1740=)
|
rs369739871
|
0.00027
|
|
NM_002471.4(MYH6):c.3199A>G (p.Ser1067Gly)
|
rs145508517
|
0.00027
|
|
NM_004415.4(DSP):c.1154C>T (p.Ala385Val)
|
rs146737031
|
0.00027
|
|
NM_006270.5(RRAS):c.454-9T>C
|
rs1490597941
|
0.00027
|
|
NM_006939.4(SOS2):c.294A>G (p.Lys98=)
|
rs149713664
|
0.00027
|
|
NM_012082.4(ZFPM2):c.1871C>G (p.Ser624Cys)
|
rs34248551
|
0.00027
|
|
NM_000018.4(ACADVL):c.1533-4T>A
|
rs369986567
|
0.00026
|
|
NM_000023.4(SGCA):c.984-10G>A
|
rs369385261
|
0.00026
|
|
NM_000117.3(EMD):c.646G>A (p.Gly216Arg)
|
rs147920229
|
0.00026
|
|
NM_000152.5(GAA):c.119G>A (p.Arg40Gln)
|
rs374476196
|
0.00026
|
|
NM_000152.5(GAA):c.2332-10C>G
|
rs373606162
|
0.00026
|
|
NM_000152.5(GAA):c.2736G>A (p.Ala912=)
|
rs142472738
|
0.00026
|
|
NM_000152.5(GAA):c.32G>A (p.Arg11Gln)
|
rs138812846
|
0.00026
|
|
NM_000256.3(MYBPC3):c.1721G>A (p.Arg574Gln)
|
rs397515922
|
0.00026
|
|
NM_000256.3(MYBPC3):c.1897+25G>A
|
rs374625369
|
0.00026
|
|
NM_001005242.3(PKP2):c.696C>T (p.Asp232=)
|
rs375677250
|
0.00026
|
|
NM_001035.3(RYR2):c.8831-9A>C
|
rs187977513
|
0.00026
|
|
NM_001103.4(ACTN2):c.1406+8C>T
|
rs397516567
|
0.00026
|
|
NM_001103.4(ACTN2):c.2161C>A (p.Arg721Ser)
|
rs149433837
|
0.00026
|
|
NM_001122630.2(CDKN1C):c.213G>A (p.Val71=)
|
rs141005361
|
0.00026
|
|
NM_001134363.3(RBM20):c.2201G>A (p.Arg734Gln)
|
rs372923744
|
0.00026
|
|
NM_001267550.2(TTN):c.101925A>G (p.Leu33975=)
|
rs201246720
|
0.00026
|
|
NM_001267550.2(TTN):c.12204G>A (p.Glu4068=)
|
rs137896107
|
0.00026
|
|
NM_001267550.2(TTN):c.14535C>T (p.Asp4845=)
|
rs184307461
|
0.00026
|
|
NM_001267550.2(TTN):c.16477G>A (p.Gly5493Ser)
|
rs377042940
|
0.00026
|
|
NM_001267550.2(TTN):c.25809G>A (p.Ser8603=)
|
rs369099681
|
0.00026
|
|
NM_001267550.2(TTN):c.28170C>T (p.Leu9390=)
|
rs149910892
|
0.00026
|
|
NM_001267550.2(TTN):c.34845C>T (p.Pro11615=)
|
rs368781863
|
0.00026
|
|
NM_001267550.2(TTN):c.52004G>A (p.Arg17335His)
|
rs367603302
|
0.00026
|
|
NM_001267550.2(TTN):c.56050+20C>T
|
rs372268675
|
0.00026
|
|
NM_001267550.2(TTN):c.57263-4C>T
|
rs373552048
|
0.00026
|
|
NM_001267550.2(TTN):c.69864A>G (p.Ile23288Met)
|
rs368867993
|
0.00026
|
|
NM_001267550.2(TTN):c.69984G>A (p.Ala23328=)
|
rs56052239
|
0.00026
|
|
NM_001267550.2(TTN):c.74844G>A (p.Lys24948=)
|
rs371884545
|
0.00026
|
|
NM_001267550.2(TTN):c.79941A>G (p.Gln26647=)
|
rs72648208
|
0.00026
|
|
NM_001267550.2(TTN):c.80424C>T (p.Gly26808=)
|
rs373341944
|
0.00026
|
|
NM_001267550.2(TTN):c.83133G>A (p.Lys27711=)
|
rs369223412
|
0.00026
|
|
NM_001267550.2(TTN):c.90382A>T (p.Thr30128Ser)
|
rs183939928
|
0.00026
|
|
NM_001267550.2(TTN):c.98716G>A (p.Val32906Ile)
|
rs182683829
|
0.00026
|
|
NM_001267550.2(TTN):c.98892C>T (p.Pro32964=)
|
rs374081262
|
0.00026
|
|
NM_001458.5(FLNC):c.4097A>G (p.Asn1366Ser)
|
rs185746835
|
0.00026
|
|
NM_001458.5(FLNC):c.5284C>T (p.Arg1762Cys)
|
rs201926772
|
0.00026
|
|
NM_001458.5(FLNC):c.5311C>G (p.Pro1771Ala)
|
rs200001272
|
0.00026
|
|
NM_001458.5(FLNC):c.5367C>T (p.Ile1789=)
|
rs377214486
|
0.00026
|
|
NM_002230.4(JUP):c.486G>A (p.Ala162=)
|
rs113317262
|
0.00026
|
|
NM_002633.3(PGM1):c.1103C>T (p.Ala368Val)
|
rs145972303
|
0.00026
|
|
NM_003803.4(MYOM1):c.110C>T (p.Ala37Val)
|
rs375155656
|
0.00026
|
|
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr)
|
rs148147581
|
0.00026
|
|
NM_005921.2(MAP3K1):c.2431A>G (p.Met811Val)
|
rs189290632
|
0.00026
|
|
NM_006284.4(TAF10):c.*2414T>A
|
rs183392482
|
0.00026
|
|
NM_014000.3(VCL):c.1297C>T (p.Arg433Cys)
|
rs139559937
|
0.00026
|
|
NM_014908.4(DOLK):c.1512T>C (p.Ala504=)
|
rs183735415
|
0.00026
|
|
NM_015374.3(SUN2):c.657G>A (p.Pro219=)
|
rs143617240
|
0.00026
|
|
NM_020433.5(JPH2):c.1233G>A (p.Glu411=)
|
rs143061111
|
0.00026
|
|
NM_024422.6(DSC2):c.631-13dup
|
rs551337657
|
0.00026
|
|
NM_033118.4(MYLK2):c.902C>A (p.Thr301Asn)
|
rs587782968
|
0.00026
|
|
NM_152594.3(SPRED1):c.377-10A>G
|
rs376134678
|
0.00026
|
|
NM_182914.3(SYNE2):c.1962G>A (p.Leu654=)
|
rs183609756
|
0.00026
|
|
NM_182914.3(SYNE2):c.3639-6A>G
|
rs369878032
|
0.00026
|
|
NM_182961.4(SYNE1):c.14625G>A (p.Thr4875=)
|
rs140118684
|
0.00026
|
|
NM_182961.4(SYNE1):c.9027G>A (p.Leu3009=)
|
rs148486281
|
0.00026
|
|
NM_000232.5(SGCB):c.495C>T (p.Asp165=)
|
rs142801720
|
0.00025
|
|
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met)
|
rs200119454
|
0.00025
|
|
NM_000432.4(MYL2):c.275-14G>C
|
rs375703502
|
0.00025
|
|
NM_001035.3(RYR2):c.2574G>A (p.Thr858=)
|
rs367992907
|
0.00025
|
|
NM_001035.3(RYR2):c.8204A>C (p.Asp2735Ala)
|
rs1213772557
|
0.00025
|
|
NM_001103.4(ACTN2):c.1235C>T (p.Thr412Met)
|
rs139515659
|
0.00025
|
|
NM_001134363.3(RBM20):c.1807G>A (p.Gly603Arg)
|
rs558674954
|
0.00025
|
|
NM_001134363.3(RBM20):c.850G>A (p.Gly284Arg)
|
rs201148126
|
0.00025
|
|
NM_001267550.2(TTN):c.100389C>T (p.Tyr33463=)
|
rs368984050
|
0.00025
|
|
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser)
|
rs146057575
|
0.00025
|
|
NM_001267550.2(TTN):c.46928A>G (p.His15643Arg)
|
rs368502650
|
0.00025
|
|
NM_001267550.2(TTN):c.52656T>C (p.Pro17552=)
|
rs371031259
|
0.00025
|
|
NM_001386795.1(DTNA):c.1404G>A (p.Ala468=)
|
rs144776465
|
0.00025
|
|
NM_001458.5(FLNC):c.1757T>C (p.Val586Ala)
|
rs374132023
|
0.00025
|
|
NM_001458.5(FLNC):c.2068T>C (p.Phe690Leu)
|
rs200943714
|
0.00025
|
|
NM_001458.5(FLNC):c.2799C>T (p.Thr933=)
|
rs202186772
|
0.00025
|
|
NM_001458.5(FLNC):c.912C>T (p.Asp304=)
|
rs201239973
|
0.00025
|
|
NM_002230.4(JUP):c.1910G>A (p.Arg637His)
|
rs142095597
|
0.00025
|
|
NM_002471.4(MYH6):c.2430-8C>G
|
rs201624129
|
0.00025
|
|
NM_002471.4(MYH6):c.3234G>A (p.Leu1078=)
|
rs149682518
|
0.00025
|
|
NM_004281.4(BAG3):c.645C>T (p.Asn215=)
|
rs138078305
|
0.00025
|
|
NM_004415.4(DSP):c.3297G>C (p.Lys1099Asn)
|
rs370550974
|
0.00025
|
|
NM_004415.4(DSP):c.7848G>A (p.Ser2616=)
|
rs148798300
|
0.00025
|
|
NM_004453.4(ETFDH):c.1449G>T (p.Pro483=)
|
rs143873407
|
0.00025
|
|
NM_016203.4(PRKAG2):c.325T>G (p.Ser109Ala)
|
rs139579816
|
0.00025
|
|
NM_024422.6(DSC2):c.1729A>G (p.Ile577Val)
|
rs201845641
|
0.00025
|
|
NM_181703.4(GJA5):c.13A>G (p.Ser5Gly)
|
rs144069395
|
0.00025
|
|
NM_182914.3(SYNE2):c.12121C>T (p.Arg4041Cys)
|
rs146197259
|
0.00025
|
|
NM_182914.3(SYNE2):c.16178C>T (p.Ala5393Val)
|
rs147173048
|
0.00025
|
|
NM_182961.4(SYNE1):c.866G>C (p.Ser289Thr)
|
rs139190745
|
0.00025
|
|
NM_000018.4(ACADVL):c.1751+18G>A
|
rs528002997
|
0.00024
|
|
NM_000023.4(SGCA):c.680C>G (p.Pro227Arg)
|
rs201131924
|
0.00024
|
|
NM_000152.5(GAA):c.1552-14C>T
|
rs199715011
|
0.00024
|
|
NM_000256.3(MYBPC3):c.506-12C>T
|
rs181840234
|
0.00024
|
|
NM_001035.3(RYR2):c.10554+16T>C
|
rs370288739
|
0.00024
|
|
NM_001035.3(RYR2):c.12492G>A (p.Gln4164=)
|
rs377293019
|
0.00024
|
|
NM_001035.3(RYR2):c.892C>T (p.Arg298Cys)
|
rs551099887
|
0.00024
|
|
NM_001130965.3(SUN1):c.543C>T (p.Asn181=)
|
rs372377655
|
0.00024
|
|
NM_001134363.3(RBM20):c.2452G>T (p.Ala818Ser)
|
rs200271618
|
0.00024
|
|
NM_001267550.2(TTN):c.1050C>T (p.Tyr350=)
|
rs375448572
|
0.00024
|
|
NM_001267550.2(TTN):c.33732G>A (p.Pro11244=)
|
rs190604150
|
0.00024
|
|
NM_001267550.2(TTN):c.38898T>A (p.Val12966=)
|
rs200432936
|
0.00024
|
|
NM_001267550.2(TTN):c.48461-11A>G
|
rs371040291
|
0.00024
|
|
NM_001267550.2(TTN):c.62098A>G (p.Asn20700Asp)
|
rs151193056
|
0.00024
|
|
NM_001267550.2(TTN):c.70056A>G (p.Arg23352=)
|
rs75948012
|
0.00024
|
|
NM_001267550.2(TTN):c.86117G>A (p.Arg28706Gln)
|
rs199788826
|
0.00024
|
|
NM_001267550.2(TTN):c.90624T>C (p.Asn30208=)
|
rs370479059
|
0.00024
|
|
NM_001318895.3(FHL2):c.738C>T (p.Asn246=)
|
rs755230829
|
0.00024
|
|
NM_001458.5(FLNC):c.2390-12G>A
|
rs374233889
|
0.00024
|
|
NM_001458.5(FLNC):c.2733G>A (p.Lys911=)
|
rs374135903
|
0.00024
|
|
NM_001458.5(FLNC):c.4695C>T (p.Asp1565=)
|
rs769871754
|
0.00024
|
|
NM_001943.5(DSG2):c.2913T>G (p.Ala971=)
|
rs200793530
|
0.00024
|
|
NM_002471.4(MYH6):c.2685+10C>T
|
rs202155137
|
0.00024
|
|
NM_002471.4(MYH6):c.408C>T (p.Ala136=)
|
rs140732380
|
0.00024
|
|
NM_002471.4(MYH6):c.4359+10G>A
|
rs368183862
|
0.00024
|
|
NM_003803.4(MYOM1):c.3548G>A (p.Arg1183Gln)
|
rs147050513
|
0.00024
|
|
NM_006440.5(TXNRD2):c.957C>G (p.Val319=)
|
rs371700934
|
0.00024
|
|
NM_015374.3(SUN2):c.615-10C>T
|
rs375410049
|
0.00024
|
|
NM_020297.4(ABCC9):c.4450-17_4450-16insA
|
rs766410793
|
0.00024
|
|
NM_020433.5(JPH2):c.1808C>T (p.Pro603Leu)
|
rs199845988
|
0.00024
|
|
NM_024334.3(TMEM43):c.564C>T (p.Gly188=)
|
rs143124744
|
0.00024
|
|
NM_024422.6(DSC2):c.1520+8C>G
|
rs372979057
|
0.00024
|
|
NM_024422.6(DSC2):c.857G>T (p.Gly286Val)
|
rs199682735
|
0.00024
|
|
NM_182914.3(SYNE2):c.13065A>G (p.Gln4355=)
|
rs7147884
|
0.00024
|
|
NM_182914.3(SYNE2):c.19313C>T (p.Pro6438Leu)
|
rs149508344
|
0.00024
|
|
NM_182914.3(SYNE2):c.9303A>G (p.Ile3101Met)
|
rs188992180
|
0.00024
|
|
NM_182961.4(SYNE1):c.11355G>A (p.Arg3785=)
|
rs151081036
|
0.00024
|
|
NM_182961.4(SYNE1):c.17867G>A (p.Arg5956His)
|
rs80265744
|
0.00024
|
|
NM_182961.4(SYNE1):c.22235G>A (p.Arg7412His)
|
rs200135486
|
0.00024
|
|
NM_182961.4(SYNE1):c.8550C>T (p.His2850=)
|
rs140565986
|
0.00024
|
|
NM_000152.5(GAA):c.2040+17G>A
|
rs534129336
|
0.00023
|
|
NM_001035.3(RYR2):c.8060G>A (p.Ser2687Asn)
|
rs202020477
|
0.00023
|
|
NM_001105206.3(LAMA4):c.1104A>G (p.Gln368=)
|
rs782501242
|
0.00023
|
|
NM_001159702.3(FHL1):c.760C>T (p.Arg254Cys)
|
rs367592190
|
0.00023
|
|
NM_001267550.2(TTN):c.11388A>G (p.Glu3796=)
|
rs367821213
|
0.00023
|
|
NM_001267550.2(TTN):c.25066C>T (p.Arg8356Cys)
|
rs201810836
|
0.00023
|
|
NM_001267550.2(TTN):c.59344+3G>A
|
rs142095604
|
0.00023
|
|
NM_001267550.2(TTN):c.98118T>C (p.Leu32706=)
|
rs72648269
|
0.00023
|
|
NM_001458.5(FLNC):c.1026C>T (p.Pro342=)
|
rs200633995
|
0.00023
|
|
NM_001458.5(FLNC):c.1434C>T (p.Arg478=)
|
rs201810745
|
0.00023
|
|
NM_002471.4(MYH6):c.2430-4C>A
|
rs376527296
|
0.00023
|
|
NM_002633.3(PGM1):c.735G>A (p.Ala245=)
|
rs146028700
|
0.00023
|
|
NM_004415.4(DSP):c.2794-4dup
|
rs397516924
|
0.00023
|
|
NM_004453.4(ETFDH):c.122G>A (p.Arg41Gln)
|
rs150105001
|
0.00023
|
|
NM_006073.4(TRDN):c.1783+18G>A
|
rs374452538
|
0.00023
|
|
NM_006270.5(RRAS):c.345-19C>G
|
rs369700575
|
0.00023
|
|
NM_006440.5(TXNRD2):c.1275+18C>T
|
rs374333900
|
0.00023
|
|
NM_016203.4(PRKAG2):c.1585-4G>A
|
rs373649956
|
0.00023
|
|
NM_020297.4(ABCC9):c.3315+17C>T
|
rs200692327
|
0.00023
|
|
NM_020297.4(ABCC9):c.3729G>A (p.Ser1243=)
|
rs140182559
|
0.00023
|
|
NM_020433.5(JPH2):c.379+12T>G
|
rs763058686
|
0.00023
|
|
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg)
|
rs147109895
|
0.00023
|
|
NM_033118.4(MYLK2):c.1308C>T (p.Asn436=)
|
rs369603764
|
0.00023
|
|
NM_144573.4(NEXN):c.1029G>A (p.Ala343=)
|
rs374260457
|
0.00023
|
|
NM_182914.3(SYNE2):c.10008A>C (p.Leu3336=)
|
rs370368366
|
0.00023
|
|
NM_182914.3(SYNE2):c.13792G>A (p.Glu4598Lys)
|
rs144702281
|
0.00023
|
|
NM_182914.3(SYNE2):c.9785A>G (p.Lys3262Arg)
|
rs374766665
|
0.00023
|
|
NM_182961.4(SYNE1):c.24977-1705G>A
|
rs375931512
|
0.00023
|
|
NM_182961.4(SYNE1):c.2569-8C>T
|
rs376033376
|
0.00023
|
|
NM_182961.4(SYNE1):c.5129C>A (p.Ala1710Asp)
|
rs150702500
|
0.00023
|
|
NM_182961.4(SYNE1):c.9807+5C>T
|
rs185350092
|
0.00023
|
|
NM_000152.5(GAA):c.1599C>T (p.Cys533=)
|
rs142766716
|
0.00022
|
|
NM_000256.3(MYBPC3):c.3228C>T (p.Asp1076=)
|
rs369999866
|
0.00022
|
|
NM_001005242.3(PKP2):c.198G>A (p.Arg66=)
|
rs144106848
|
0.00022
|
|
NM_001105206.3(LAMA4):c.456T>A (p.Ala152=)
|
rs149106800
|
0.00022
|
|
NM_001122630.2(CDKN1C):c.303G>C (p.Ala101=)
|
rs931922290
|
0.00022
|
|
NM_001122630.2(CDKN1C):c.411G>A (p.Pro137=)
|
rs878853625
|
0.00022
|
|
NM_001267550.2(TTN):c.107377+14C>T
|
rs367908657
|
0.00022
|
|
NM_001267550.2(TTN):c.27625A>G (p.Lys9209Glu)
|
rs148355969
|
0.00022
|
|
NM_001267550.2(TTN):c.33911-6_33911-5insG
|
rs765503214
|
0.00022
|
|
NM_001267550.2(TTN):c.54811+15G>A
|
rs201450276
|
0.00022
|
|
NM_001458.5(FLNC):c.7353G>A (p.Val2451=)
|
rs368607789
|
0.00022
|
|
NM_002471.4(MYH6):c.2614C>T (p.Arg872Cys)
|
rs201193346
|
0.00022
|
|
NM_002471.4(MYH6):c.4137G>A (p.Thr1379=)
|
rs372158844
|
0.00022
|
|
NM_002471.4(MYH6):c.4505G>A (p.Arg1502Gln)
|
rs199936506
|
0.00022
|
|
NM_002471.4(MYH6):c.4594C>T (p.Arg1532Cys)
|
rs201827489
|
0.00022
|
|
NM_002471.4(MYH6):c.5201C>T (p.Ser1734Leu)
|
rs151324358
|
0.00022
|
|
NM_003803.4(MYOM1):c.2023A>G (p.Lys675Glu)
|
rs200179081
|
0.00022
|
|
NM_004415.4(DSP):c.422+14A>G
|
rs533188973
|
0.00022
|
|
NM_004415.4(DSP):c.6207C>T (p.Val2069=)
|
rs147398792
|
0.00022
|
|
NM_005159.5(ACTC1):c.513C>T (p.Tyr171=)
|
rs145023222
|
0.00022
|
|
NM_006073.4(TRDN):c.375C>T (p.Asp125=)
|
rs377440434
|
0.00022
|
|
NM_006393.3(NEBL):c.1449+14G>A
|
rs373699154
|
0.00022
|
|
NM_006393.3(NEBL):c.2673A>G (p.Thr891=)
|
rs202127185
|
0.00022
|
|
NM_006393.3(NEBL):c.2964C>T (p.Asp988=)
|
rs144946187
|
0.00022
|
|
NM_006939.4(SOS2):c.3075+19C>T
|
rs200459376
|
0.00022
|
|
NM_012082.4(ZFPM2):c.3049G>A (p.Gly1017Ser)
|
rs201106296
|
0.00022
|
|
NM_015374.3(SUN2):c.1533G>C (p.Leu511=)
|
rs528608235
|
0.00022
|
|
NM_022114.4(PRDM16):c.1033-17G>T
|
rs374947232
|
0.00022
|
|
NM_022114.4(PRDM16):c.3498C>T (p.Ala1166=)
|
rs368383914
|
0.00022
|
|
NM_022114.4(PRDM16):c.438+15C>T
|
rs182265560
|
0.00022
|
|
NM_022114.4(PRDM16):c.884+13C>G
|
rs377312275
|
0.00022
|
|
NM_024422.6(DSC2):c.854T>C (p.Ile285Thr)
|
rs199918720
|
0.00022
|
|
NM_032578.4(MYPN):c.2229G>A (p.Pro743=)
|
rs148360410
|
0.00022
|
|
NM_182914.3(SYNE2):c.12949C>T (p.Leu4317=)
|
rs372251754
|
0.00022
|
|
NM_182914.3(SYNE2):c.14340+11C>T
|
rs374706268
|
0.00022
|
|
NM_182914.3(SYNE2):c.5193G>A (p.Gln1731=)
|
rs373231298
|
0.00022
|
|
NM_182961.4(SYNE1):c.1351-14A>T
|
rs767941331
|
0.00022
|
|
NM_182961.4(SYNE1):c.13554C>T (p.Arg4518=)
|
rs115535983
|
0.00022
|
|
NM_182961.4(SYNE1):c.6230+17C>T
|
rs200580133
|
0.00022
|
|
NM_182961.4(SYNE1):c.8433C>T (p.Asp2811=)
|
rs375466040
|
0.00022
|
|
NM_000152.5(GAA):c.2152G>A (p.Val718Ile)
|
rs141017311
|
0.00021
|
|
NM_000152.5(GAA):c.2245G>T (p.Ala749Ser)
|
rs148311222
|
0.00021
|
|
NM_000152.5(GAA):c.2323C>A (p.Leu775Met)
|
rs147290429
|
0.00021
|
|
NM_000182.5(HADHA):c.1621-19A>G
|
rs372878267
|
0.00021
|
|
NM_000182.5(HADHA):c.2175C>T (p.Gly725=)
|
rs375399631
|
0.00021
|
|
NM_000257.4(MYH7):c.5656-9C>T
|
rs781212482
|
0.00021
|
|
NM_000363.5(TNNI3):c.373-16C>T
|
rs373508654
|
0.00021
|
|
NM_001018005.2(TPM1):c.797A>G (p.Lys266Arg)
|
rs371934474
|
0.00021
|
|
NM_001035.3(RYR2):c.1005+13A>G
|
rs552027921
|
0.00021
|
|
NM_001035.3(RYR2):c.10143-19T>C
|
rs373127797
|
0.00021
|
|
NM_001035.3(RYR2):c.13137C>A (p.Ile4379=)
|
rs369917806
|
0.00021
|
|
NM_001035.3(RYR2):c.1477-17_1477-16insC
|
rs746069322
|
0.00021
|
|
NM_001035.3(RYR2):c.2389G>A (p.Gly797Arg)
|
rs200121281
|
0.00021
|
|
NM_001035.3(RYR2):c.577-14G>A
|
rs148019277
|
0.00021
|
|
NM_001130965.3(SUN1):c.2282G>A (p.Arg761Gln)
|
rs199515429
|
0.00021
|
|
NM_001161403.3(LIMS2):c.11+1326T>C
|
rs371665020
|
0.00021
|
|
NM_001232.4(CASQ2):c.607-15T>C
|
rs138298959
|
0.00021
|
|
NM_001267550.2(TTN):c.101055T>C (p.Asp33685=)
|
rs372788551
|
0.00021
|
|
NM_001267550.2(TTN):c.12195T>C (p.Leu4065=)
|
rs201129413
|
0.00021
|
|
NM_001267550.2(TTN):c.28644G>A (p.Thr9548=)
|
rs376744914
|
0.00021
|
|
NM_001267550.2(TTN):c.33743-15T>C
|
rs112313732
|
0.00021
|
|
NM_001267550.2(TTN):c.40634-10T>A
|
rs375097334
|
0.00021
|
|
NM_001267550.2(TTN):c.5464A>C (p.Met1822Leu)
|
rs201581947
|
0.00021
|
|
NM_001267550.2(TTN):c.62280T>C (p.Val20760=)
|
rs372065796
|
0.00021
|
|
NM_001267550.2(TTN):c.62424C>T (p.Asp20808=)
|
rs374472044
|
0.00021
|
|
NM_001267550.2(TTN):c.8589A>G (p.Glu2863=)
|
rs72647883
|
0.00021
|
|
NM_001267550.2(TTN):c.88984G>A (p.Gly29662Ser)
|
rs187460377
|
0.00021
|
|
NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr)
|
rs200766837
|
0.00021
|
|
NM_001458.5(FLNC):c.2635C>T (p.Arg879Cys)
|
rs374983276
|
0.00021
|
|
NM_001458.5(FLNC):c.7499G>A (p.Ser2500Asn)
|
rs371244800
|
0.00021
|
|
NM_001927.4(DES):c.736-8C>A
|
rs140375681
|
0.00021
|
|
NM_002230.4(JUP):c.1507G>A (p.Gly503Ser)
|
rs376051686
|
0.00021
|
|
NM_002471.4(MYH6):c.1839C>G (p.Ser613=)
|
rs138984258
|
0.00021
|
|
NM_002633.3(PGM1):c.420A>G (p.Pro140=)
|
rs141007881
|
0.00021
|
|
NM_003673.4(TCAP):c.458G>A (p.Arg153His)
|
rs149585781
|
0.00021
|
|
NM_004281.4(BAG3):c.1674G>A (p.Ala558=)
|
rs142981190
|
0.00021
|
|
NM_004281.4(BAG3):c.471G>A (p.Ala157=)
|
rs148985314
|
0.00021
|
|
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys)
|
rs150339369
|
0.00021
|
|
NM_004415.4(DSP):c.5035C>T (p.His1679Tyr)
|
rs762561997
|
0.00021
|
|
NM_006393.3(NEBL):c.82-4A>G
|
rs368268112
|
0.00021
|
|
NM_014000.3(VCL):c.571T>C (p.Leu191=)
|
rs370334093
|
0.00021
|
|
NM_016203.4(PRKAG2):c.521C>T (p.Thr174Met)
|
rs148056866
|
0.00021
|
|
NM_021167.5(GATAD1):c.249+15C>T
|
rs587780950
|
0.00021
|
|
NM_021167.5(GATAD1):c.276T>G (p.Ser92=)
|
rs143082866
|
0.00021
|
|
NM_021167.5(GATAD1):c.48G>A (p.Ser16=)
|
rs376686657
|
0.00021
|
|
NM_022114.4(PRDM16):c.3109+9C>T
|
rs369808146
|
0.00021
|
|
NM_022114.4(PRDM16):c.646C>A (p.Pro216Thr)
|
rs368140002
|
0.00021
|
|
NM_024334.3(TMEM43):c.1095G>A (p.Ala365=)
|
rs141675061
|
0.00021
|
|
NM_024422.6(DSC2):c.2546A>C (p.His849Pro)
|
rs184487763
|
0.00021
|
|
NM_024422.6(DSC2):c.348A>G (p.Gln116=)
|
rs137941742
|
0.00021
|
|
NM_032578.4(MYPN):c.3660-14C>T
|
rs376460992
|
0.00021
|
|
NM_145046.5(CALR3):c.761C>T (p.Pro254Leu)
|
rs761736548
|
0.00021
|
|
NM_152594.3(SPRED1):c.886T>C (p.Cys296Arg)
|
rs554327738
|
0.00021
|
|
NM_182914.3(SYNE2):c.10815A>T (p.Ser3605=)
|
rs377396543
|
0.00021
|
|
NM_182914.3(SYNE2):c.12903C>T (p.Gly4301=)
|
rs148708516
|
0.00021
|
|
NM_182914.3(SYNE2):c.16881C>T (p.Leu5627=)
|
rs149949857
|
0.00021
|
|
NM_182914.3(SYNE2):c.16894A>G (p.Lys5632Glu)
|
rs375876618
|
0.00021
|
|
NM_182914.3(SYNE2):c.22C>T (p.Pro8Ser)
|
rs2275017
|
0.00021
|
|
NM_182961.4(SYNE1):c.11253+9G>A
|
rs368012172
|
0.00021
|
|
NM_182961.4(SYNE1):c.12006T>G (p.Leu4002=)
|
rs143529882
|
0.00021
|
|
NM_182961.4(SYNE1):c.16296G>A (p.Arg5432=)
|
rs144376043
|
0.00021
|
|
NM_182961.4(SYNE1):c.18662C>T (p.Thr6221Ile)
|
rs150335599
|
0.00021
|
|
NM_000152.5(GAA):c.1888+10_1888+11insC
|
rs748036956
|
0.00020
|
|
NM_000152.5(GAA):c.2253C>T (p.Leu751=)
|
rs140441758
|
0.00020
|
|
NM_000152.5(GAA):c.2751C>T (p.Leu917=)
|
rs146507838
|
0.00020
|
|
NM_000182.5(HADHA):c.864A>G (p.Glu288=)
|
rs372425837
|
0.00020
|
|
NM_000256.3(MYBPC3):c.1813G>A (p.Asp605Asn)
|
rs376736293
|
0.00020
|
|
NM_000257.4(MYH7):c.5283+19C>T
|
rs45582836
|
0.00020
|
|
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr)
|
rs104894363
|
0.00020
|
|
NM_001035.3(RYR2):c.13303A>G (p.Thr4435Ala)
|
rs374019555
|
0.00020
|
|
NM_001035.3(RYR2):c.14220C>T (p.Ala4740=)
|
rs368971586
|
0.00020
|
|
NM_001105206.3(LAMA4):c.4852C>T (p.Leu1618Phe)
|
rs397516733
|
0.00020
|
|
NM_001134363.3(RBM20):c.773C>T (p.Ser258Leu)
|
rs749285793
|
0.00020
|
|
NM_001267550.2(TTN):c.10977G>A (p.Ala3659=)
|
rs369327691
|
0.00020
|
|
NM_001267550.2(TTN):c.14697C>T (p.Ser4899=)
|
rs372740215
|
0.00020
|
|
NM_001267550.2(TTN):c.38001G>A (p.Ser12667=)
|
rs201179474
|
0.00020
|
|
NM_001267550.2(TTN):c.63352C>T (p.Arg21118Trp)
|
rs200726948
|
0.00020
|
|
NM_001386795.1(DTNA):c.126G>A (p.Arg42=)
|
rs376001633
|
0.00020
|
|
NM_001386795.1(DTNA):c.2283T>C (p.Asp761=)
|
rs187028045
|
0.00020
|
|
NM_001458.5(FLNC):c.2128G>A (p.Asp710Asn)
|
rs370035829
|
0.00020
|
|
NM_002230.4(JUP):c.258G>A (p.Arg86=)
|
rs147159111
|
0.00020
|
|
NM_002471.4(MYH6):c.202-12C>T
|
rs566157802
|
0.00020
|
|
NM_003803.4(MYOM1):c.1188A>G (p.Pro396=)
|
rs376041429
|
0.00020
|
|
NM_005921.2(MAP3K1):c.934A>T (p.Met312Leu)
|
rs376808920
|
0.00020
|
|
NM_006440.5(TXNRD2):c.173-19del
|
rs770032943
|
0.00020
|
|
NM_006939.4(SOS2):c.3769A>G (p.Asn1257Asp)
|
rs150393358
|
0.00020
|
|
NM_014908.4(DOLK):c.159C>G (p.Ala53=)
|
rs199857223
|
0.00020
|
|
NM_016203.4(PRKAG2):c.313G>A (p.Val105Met)
|
rs397517269
|
0.00020
|
|
NM_022114.4(PRDM16):c.2172G>A (p.Ala724=)
|
rs773130347
|
0.00020
|
|
NM_182914.3(SYNE2):c.11793+12T>C
|
rs568556801
|
0.00020
|
|
NM_182914.3(SYNE2):c.12738C>T (p.Ala4246=)
|
rs143927906
|
0.00020
|
|
NM_182914.3(SYNE2):c.17723G>A (p.Arg5908His)
|
rs538344879
|
0.00020
|
|
NM_000023.4(SGCA):c.37+10G>T
|
rs200626376
|
0.00019
|
|
NM_000116.5(TAFAZZIN):c.584-7del
|
rs782192927
|
0.00019
|
|
NM_000152.5(GAA):c.2156C>A (p.Ala719Glu)
|
rs146762316
|
0.00019
|
|
NM_000152.5(GAA):c.250G>A (p.Val84Ile)
|
rs139595011
|
0.00019
|
|
NM_000152.5(GAA):c.693-4G>T
|
rs200088236
|
0.00019
|
|
NM_000182.5(HADHA):c.2215G>C (p.Ala739Pro)
|
rs141164185
|
0.00019
|
|
NM_000256.3(MYBPC3):c.207G>C (p.Arg69=)
|
rs397515946
|
0.00019
|
|
NM_000256.3(MYBPC3):c.3276C>T (p.Val1092=)
|
rs376344765
|
0.00019
|
|
NM_000256.3(MYBPC3):c.3285G>A (p.Thr1095=)
|
rs367927327
|
0.00019
|
|
NM_000257.4(MYH7):c.4353+3G>T
|
rs767518107
|
0.00019
|
|
NM_000257.4(MYH7):c.5412C>G (p.Ala1804=)
|
rs147433856
|
0.00019
|
|
NM_000257.4(MYH7):c.796+7G>A
|
rs369286647
|
0.00019
|
|
NM_000337.6(SGCD):c.848A>G (p.Gln283Arg)
|
rs397516338
|
0.00019
|
|
NM_000371.4(TTR):c.190T>C (p.Phe64Leu)
|
rs138065384
|
0.00019
|
|
NM_001035.3(RYR2):c.1006-12C>T
|
rs367998175
|
0.00019
|
|
NM_001035.3(RYR2):c.3024G>A (p.Ala1008=)
|
rs566157997
|
0.00019
|
|
NM_001035.3(RYR2):c.3356G>A (p.Arg1119His)
|
rs201312753
|
0.00019
|
|
NM_001103.4(ACTN2):c.1293G>A (p.Ser431=)
|
rs144819985
|
0.00019
|
|
NM_001130965.3(SUN1):c.451+13G>A
|
rs376973725
|
0.00019
|
|
NM_001134363.3(RBM20):c.925G>A (p.Gly309Arg)
|
rs397516625
|
0.00019
|
|
NM_001232.4(CASQ2):c.1011A>T (p.Thr337=)
|
rs137999497
|
0.00019
|
|
NM_001267550.2(TTN):c.101262A>G (p.Gly33754=)
|
rs374878689
|
0.00019
|
|
NM_001267550.2(TTN):c.14424G>C (p.Val4808=)
|
rs374479775
|
0.00019
|
|
NM_001267550.2(TTN):c.22653T>C (p.Asp7551=)
|
rs371736246
|
0.00019
|
|
NM_001267550.2(TTN):c.3069C>T (p.Thr1023=)
|
rs371447978
|
0.00019
|
|
NM_001267550.2(TTN):c.38380+10C>T
|
rs200802296
|
0.00019
|
|
NM_001267550.2(TTN):c.38707+7G>C
|
rs752801232
|
0.00019
|
|
NM_001267550.2(TTN):c.39548-8A>G
|
rs369594816
|
0.00019
|
|
NM_001267550.2(TTN):c.55379C>T (p.Thr18460Ile)
|
rs372778818
|
0.00019
|
|
NM_001267550.2(TTN):c.6714G>A (p.Thr2238=)
|
rs774836314
|
0.00019
|
|
NM_001267550.2(TTN):c.70644C>T (p.Thr23548=)
|
rs148210834
|
0.00019
|
|
NM_001267550.2(TTN):c.7957T>C (p.Leu2653=)
|
rs201837864
|
0.00019
|
|
NM_001267550.2(TTN):c.85951C>T (p.Leu28651=)
|
rs190729405
|
0.00019
|
|
NM_001267550.2(TTN):c.94623C>T (p.Tyr31541=)
|
rs376539252
|
0.00019
|
|
NM_001386795.1(DTNA):c.1918T>C (p.Leu640=)
|
rs372620035
|
0.00019
|
|
NM_001458.5(FLNC):c.1354G>A (p.Val452Met)
|
rs192163925
|
0.00019
|
|
NM_001458.5(FLNC):c.1924G>A (p.Val642Ile)
|
rs369387744
|
0.00019
|
|
NM_001458.5(FLNC):c.2296C>T (p.Arg766Trp)
|
rs200215340
|
0.00019
|
|
NM_001458.5(FLNC):c.3790+5G>A
|
rs199917473
|
0.00019
|
|
NM_001458.5(FLNC):c.3938G>A (p.Arg1313Gln)
|
rs199804244
|
0.00019
|
|
NM_001458.5(FLNC):c.4127+9C>T
|
rs368729011
|
0.00019
|
|
NM_001985.3(ETFB):c.452C>T (p.Ser151Phe)
|
rs74735908
|
0.00019
|
|
NM_002471.4(MYH6):c.1875C>T (p.Tyr625=)
|
rs146591697
|
0.00019
|
|
NM_002471.4(MYH6):c.2841C>T (p.Asp947=)
|
rs140305424
|
0.00019
|
|
NM_002471.4(MYH6):c.824T>A (p.Ile275Asn)
|
rs201327273
|
0.00019
|
|
NM_004100.5(EYA4):c.83+6G>A
|
rs200479266
|
0.00019
|
|
NM_004415.4(DSP):c.1344G>A (p.Leu448=)
|
rs138226280
|
0.00019
|
|
NM_004415.4(DSP):c.6351T>C (p.Asp2117=)
|
rs148743859
|
0.00019
|
|
NM_004415.4(DSP):c.8415C>T (p.Ala2805=)
|
rs377148997
|
0.00019
|
|
NM_004453.4(ETFDH):c.1048C>T (p.Arg350Trp)
|
rs375172942
|
0.00019
|
|
NM_005343.4(HRAS):c.257A>C (p.Asn86Thr)
|
rs138272051
|
0.00019
|
|
NM_006393.3(NEBL):c.2724A>T (p.Ser908=)
|
rs146673676
|
0.00019
|
|
NM_006393.3(NEBL):c.369+5G>A
|
rs200249470
|
0.00019
|
|
NM_006393.3(NEBL):c.69T>C (p.Asn23=)
|
rs746405718
|
0.00019
|
|
NM_006440.5(TXNRD2):c.1155G>C (p.Gly385=)
|
rs370957634
|
0.00019
|
|
NM_006440.5(TXNRD2):c.585C>G (p.Pro195=)
|
rs201760306
|
0.00019
|
|
NM_006939.4(SOS2):c.2010A>G (p.Ala670=)
|
rs147081547
|
0.00019
|
|
NM_013266.4(CTNNA3):c.1282-18T>C
|
rs374341741
|
0.00019
|
|
NM_014000.3(VCL):c.2427C>T (p.Ser809=)
|
rs183739128
|
0.00019
|
|
NM_014000.3(VCL):c.590C>T (p.Thr197Ile)
|
rs189242810
|
0.00019
|
|
NM_014476.6(PDLIM3):c.1053C>T (p.Pro351=)
|
rs369891118
|
0.00019
|
|
NM_016203.4(PRKAG2):c.123C>T (p.Ser41=)
|
rs397517263
|
0.00019
|
|
NM_022114.4(PRDM16):c.1186+10C>T
|
rs368744559
|
0.00019
|
|
NM_181703.4(GJA5):c.348G>A (p.Glu116=)
|
rs150168016
|
0.00019
|
|
NM_182914.3(SYNE2):c.16875T>G (p.Pro5625=)
|
rs372506361
|
0.00019
|
|
NM_182914.3(SYNE2):c.19402+10C>G
|
rs759119344
|
0.00019
|
|
NM_182914.3(SYNE2):c.7410A>G (p.Ala2470=)
|
rs149447818
|
0.00019
|
|
NM_182914.3(SYNE2):c.9315A>C (p.Leu3105Phe)
|
rs201466326
|
0.00019
|
|
NM_182961.4(SYNE1):c.10786G>A (p.Val3596Met)
|
rs143034104
|
0.00019
|
|
NM_182961.4(SYNE1):c.16182T>G (p.Ser5394=)
|
rs146705789
|
0.00019
|
|
NM_182961.4(SYNE1):c.18480C>T (p.Asp6160=)
|
rs142251671
|
0.00019
|
|
NM_182961.4(SYNE1):c.7238-11T>C
|
rs200802315
|
0.00019
|
|
NM_182961.4(SYNE1):c.8574A>G (p.Ser2858=)
|
rs139079964
|
0.00019
|
|
NM_000152.5(GAA):c.1232G>A (p.Arg411Gln)
|
rs372799904
|
0.00018
|
|
NM_000256.3(MYBPC3):c.407-5C>T
|
rs371312567
|
0.00018
|
|
NM_001035.3(RYR2):c.11116G>A (p.Asp3706Asn)
|
rs942040362
|
0.00018
|
|
NM_001035.3(RYR2):c.3225C>T (p.Ala1075=)
|
rs727505215
|
0.00018
|
|
NM_001035.3(RYR2):c.3408C>A (p.Ala1136=)
|
rs371248758
|
0.00018
|
|
NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys)
|
rs564806219
|
0.00018
|
|
NM_001103.4(ACTN2):c.2677G>A (p.Asp893Asn)
|
rs142646143
|
0.00018
|
|
NM_001105206.3(LAMA4):c.4691G>T (p.Ser1564Ile)
|
rs369887291
|
0.00018
|
|
NM_001134363.3(RBM20):c.1816G>A (p.Val606Met)
|
rs727505067
|
0.00018
|
|
NM_001267550.2(TTN):c.107681-18T>G
|
rs753667942
|
0.00018
|
|
NM_001267550.2(TTN):c.22383C>T (p.Asp7461=)
|
rs376383610
|
0.00018
|
|
NM_001267550.2(TTN):c.23965C>T (p.Arg7989Cys)
|
rs201653851
|
0.00018
|
|
NM_001267550.2(TTN):c.31422G>A (p.Val10474=)
|
rs72650020
|
0.00018
|
|
NM_001267550.2(TTN):c.32706G>A (p.Ala10902=)
|
rs372124201
|
0.00018
|
|
NM_001267550.2(TTN):c.32953C>T (p.Arg10985Trp)
|
rs201991864
|
0.00018
|
|
NM_001267550.2(TTN):c.38627-16A>G
|
rs1014728001
|
0.00018
|
|
NM_001267550.2(TTN):c.40581A>G (p.Glu13527=)
|
rs775954427
|
0.00018
|
|
NM_001267550.2(TTN):c.54771C>T (p.Pro18257=)
|
rs190716158
|
0.00018
|
|
NM_001267550.2(TTN):c.55512C>T (p.Asp18504=)
|
rs377164046
|
0.00018
|
|
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr)
|
rs72646853
|
0.00018
|
|
NM_001267550.2(TTN):c.88134A>G (p.Pro29378=)
|
rs374612925
|
0.00018
|
|
NM_001267550.2(TTN):c.91815T>G (p.Ser30605=)
|
rs571605213
|
0.00018
|
|
NM_001267550.2(TTN):c.95961C>T (p.Ala31987=)
|
rs369405564
|
0.00018
|
|
NM_001267550.2(TTN):c.96234C>T (p.Tyr32078=)
|
rs376532382
|
0.00018
|
|
NM_001267550.2(TTN):c.96252A>G (p.Thr32084=)
|
rs369626133
|
0.00018
|
|
NM_001318895.3(FHL2):c.174C>T (p.Asp58=)
|
rs141208906
|
0.00018
|
|
NM_001458.5(FLNC):c.5143G>A (p.Val1715Ile)
|
rs200178370
|
0.00018
|
|
NM_001458.5(FLNC):c.6720G>A (p.Gln2240=)
|
rs371391208
|
0.00018
|
|
NM_001458.5(FLNC):c.7108G>A (p.Gly2370Ser)
|
rs201917318
|
0.00018
|
|
NM_001927.4(DES):c.1288+20C>T
|
rs200657337
|
0.00018
|
|
NM_002230.4(JUP):c.1582G>A (p.Val528Ile)
|
rs368271628
|
0.00018
|
|
NM_002230.4(JUP):c.2031G>A (p.Pro677=)
|
rs188888662
|
0.00018
|
|
NM_003803.4(MYOM1):c.572C>T (p.Thr191Met)
|
rs191505313
|
0.00018
|
|
NM_004517.4(ILK):c.707A>G (p.Asn236Ser)
|
rs145571020
|
0.00018
|
|
NM_006393.3(NEBL):c.2307T>C (p.Ala769=)
|
rs144815863
|
0.00018
|
|
NM_006440.5(TXNRD2):c.949+10C>T
|
rs563775080
|
0.00018
|
|
NM_006939.4(SOS2):c.2366T>C (p.Leu789Ser)
|
rs142863840
|
0.00018
|
|
NM_006939.4(SOS2):c.3076-17A>T
|
rs200184350
|
0.00018
|
|
NM_013266.4(CTNNA3):c.18A>T (p.Pro6=)
|
rs138580439
|
0.00018
|
|
NM_013266.4(CTNNA3):c.2378G>A (p.Gly793Glu)
|
rs188248522
|
0.00018
|
|
NM_022114.4(PRDM16):c.3051C>T (p.Phe1017=)
|
rs778222564
|
0.00018
|
|
NM_022114.4(PRDM16):c.456C>T (p.Gly152=)
|
rs576685798
|
0.00018
|
|
NM_024422.6(DSC2):c.135C>T (p.Ala45=)
|
rs749323567
|
0.00018
|
|
NM_182914.3(SYNE2):c.13377C>G (p.Leu4459=)
|
rs141379692
|
0.00018
|
|
NM_182914.3(SYNE2):c.5100G>A (p.Val1700=)
|
rs376691167
|
0.00018
|
|
NM_182914.3(SYNE2):c.9843C>A (p.Pro3281=)
|
rs373355920
|
0.00018
|
|
NM_182961.4(SYNE1):c.22923C>T (p.Ala7641=)
|
rs2296253
|
0.00018
|
|
NM_182961.4(SYNE1):c.24150C>T (p.His8050=)
|
rs140259310
|
0.00018
|
|
NM_182961.4(SYNE1):c.24815G>A (p.Arg8272Gln)
|
rs201029723
|
0.00018
|
|
NM_000152.5(GAA):c.131G>T (p.Gly44Val)
|
rs550609502
|
0.00017
|
|
NM_000152.5(GAA):c.1848C>T (p.Asp616=)
|
rs377175810
|
0.00017
|
|
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln)
|
rs149968110
|
0.00017
|
|
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His)
|
rs202139499
|
0.00017
|
|
NM_001035.3(RYR2):c.4761C>T (p.His1587=)
|
rs369612535
|
0.00017
|
|
NM_001122630.2(CDKN1C):c.669C>G (p.Gly223=)
|
rs546016935
|
0.00017
|
|
NM_001267550.2(TTN):c.101708G>A (p.Arg33903His)
|
rs72629782
|
0.00017
|
|
NM_001267550.2(TTN):c.11109C>T (p.Ser3703=)
|
rs879160199
|
0.00017
|
|
NM_001267550.2(TTN):c.111G>C (p.Val37=)
|
rs373923523
|
0.00017
|
|
NM_001267550.2(TTN):c.30683-19T>C
|
rs768856856
|
0.00017
|
|
NM_001267550.2(TTN):c.54597T>C (p.Thr18199=)
|
rs879170876
|
0.00017
|
|
NM_001267550.2(TTN):c.5895T>C (p.Asp1965=)
|
rs186005100
|
0.00017
|
|
NM_001267550.2(TTN):c.65575+10T>C
|
rs72646864
|
0.00017
|
|
NM_001267550.2(TTN):c.687T>C (p.Phe229=)
|
rs376527094
|
0.00017
|
|
NM_001267550.2(TTN):c.77848C>T (p.Leu25950Phe)
|
rs376814602
|
0.00017
|
|
NM_001267550.2(TTN):c.81892G>A (p.Asp27298Asn)
|
rs200697681
|
0.00017
|
|
NM_001458.5(FLNC):c.1657G>A (p.Gly553Ser)
|
rs201572079
|
0.00017
|
|
NM_001458.5(FLNC):c.3510C>T (p.Val1170=)
|
rs745571747
|
0.00017
|
|
NM_001943.5(DSG2):c.1851C>T (p.Leu617=)
|
rs202057770
|
0.00017
|
|
NM_002230.4(JUP):c.1296C>T (p.Asn432=)
|
rs544224850
|
0.00017
|
|
NM_003673.4(TCAP):c.270G>A (p.Pro90=)
|
rs372538567
|
0.00017
|
|
NM_004100.5(EYA4):c.1617-11C>T
|
rs118166702
|
0.00017
|
|
NM_004281.4(BAG3):c.96G>T (p.Pro32=)
|
rs372083121
|
0.00017
|
|
NM_004415.4(DSP):c.2121C>T (p.Asn707=)
|
rs368590198
|
0.00017
|
|
NM_004415.4(DSP):c.3153C>T (p.Asn1051=)
|
rs563387839
|
0.00017
|
|
NM_004453.4(ETFDH):c.1080A>G (p.Ala360=)
|
rs150020458
|
0.00017
|
|
NM_005921.2(MAP3K1):c.576C>T (p.Thr192=)
|
rs372106846
|
0.00017
|
|
NM_006073.4(TRDN):c.1215A>G (p.Glu405=)
|
rs939674538
|
0.00017
|
|
NM_006440.5(TXNRD2):c.682+15C>T
|
rs201450101
|
0.00017
|
|
NM_014476.6(PDLIM3):c.663-15G>A
|
rs561379714
|
0.00017
|
|
NM_015374.3(SUN2):c.1191-4C>T
|
rs754222779
|
0.00017
|
|
NM_015374.3(SUN2):c.461G>A (p.Arg154Gln)
|
rs143392390
|
0.00017
|
|
NM_020297.4(ABCC9):c.3096+13C>T
|
rs370712530
|
0.00017
|
|
NM_020297.4(ABCC9):c.574-18G>A
|
rs376566343
|
0.00017
|
|
NM_022114.4(PRDM16):c.252C>T (p.Phe84=)
|
rs370290776
|
0.00017
|
|
NM_022114.4(PRDM16):c.439-16G>A
|
rs374357486
|
0.00017
|
|
NM_022114.4(PRDM16):c.471C>T (p.Cys157=)
|
rs201912658
|
0.00017
|
|
NM_024334.3(TMEM43):c.443-9C>T
|
rs371866082
|
0.00017
|
|
NM_144573.4(NEXN):c.1252-11T>G
|
rs781115798
|
0.00017
|
|
NM_145046.5(CALR3):c.639A>G (p.Glu213=)
|
rs377026384
|
0.00017
|
|
NM_152594.3(SPRED1):c.124G>A (p.Val42Ile)
|
rs147204964
|
0.00017
|
|
NM_182914.3(SYNE2):c.12655G>A (p.Ala4219Thr)
|
rs138644399
|
0.00017
|
|
NM_182914.3(SYNE2):c.19417G>C (p.Asp6473His)
|
rs140940287
|
0.00017
|
|
NM_182961.4(SYNE1):c.14115C>T (p.Ala4705=)
|
rs377739292
|
0.00017
|
|
NM_182961.4(SYNE1):c.1463+9A>G
|
rs368846118
|
0.00017
|
|
NM_182961.4(SYNE1):c.16084-14G>A
|
rs372051077
|
0.00017
|
|
NM_182961.4(SYNE1):c.17020-20C>T
|
rs558291255
|
0.00017
|
|
NM_182961.4(SYNE1):c.22910G>C (p.Ser7637Thr)
|
rs201497427
|
0.00017
|
|
NM_000152.5(GAA):c.2274C>T (p.Ala758=)
|
rs150431943
|
0.00016
|
|
NM_000256.3(MYBPC3):c.1566G>A (p.Ala522=)
|
rs376041792
|
0.00016
|
|
NM_000256.3(MYBPC3):c.246T>C (p.Ile82=)
|
rs372502369
|
0.00016
|
|
NM_000256.3(MYBPC3):c.506-17C>T
|
rs561595897
|
0.00016
|
|
NM_000257.4(MYH7):c.5718A>C (p.Ala1906=)
|
rs45523233
|
0.00016
|
|
NM_000337.6(SGCD):c.817C>T (p.Leu273=)
|
rs375029639
|
0.00016
|
|
NM_001005242.3(PKP2):c.1504G>A (p.Ala502Thr)
|
rs368740836
|
0.00016
|
|
NM_001005242.3(PKP2):c.176A>T (p.Gln59Leu)
|
rs730880179
|
0.00016
|
|
NM_001005242.3(PKP2):c.336+17T>G
|
rs185681814
|
0.00016
|
|
NM_001035.3(RYR2):c.10962A>C (p.Glu3654Asp)
|
rs547005691
|
0.00016
|
|
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn)
|
rs193922623
|
0.00016
|
|
NM_001035.3(RYR2):c.2711A>G (p.Tyr904Cys)
|
rs201131315
|
0.00016
|
|
NM_001035.3(RYR2):c.2755G>A (p.Val919Met)
|
rs201079716
|
0.00016
|
|
NM_001035.3(RYR2):c.4445G>A (p.Arg1482His)
|
rs373024059
|
0.00016
|
|
NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser)
|
rs185237690
|
0.00016
|
|
NM_001035.3(RYR2):c.7075C>A (p.Arg2359=)
|
rs200921429
|
0.00016
|
|
NM_001035.3(RYR2):c.8592A>G (p.Gly2864=)
|
rs763801208
|
0.00016
|
|
NM_001103.4(ACTN2):c.186C>T (p.Ile62=)
|
rs34403480
|
0.00016
|
|
NM_001105206.3(LAMA4):c.3558-13C>T
|
rs148084055
|
0.00016
|
|
NM_001122630.2(CDKN1C):c.551T>C (p.Val184Ala)
|
rs1261515352
|
0.00016
|
|
NM_001134363.3(RBM20):c.2014G>A (p.Gly672Ser)
|
rs730880182
|
0.00016
|
|
NM_001134363.3(RBM20):c.2042A>G (p.Tyr681Cys)
|
rs372048968
|
0.00016
|
|
NM_001134363.3(RBM20):c.2145C>T (p.Pro715=)
|
rs764304126
|
0.00016
|
|
NM_001134363.3(RBM20):c.2547T>A (p.Asn849Lys)
|
rs562882648
|
0.00016
|
|
NM_001134363.3(RBM20):c.3004C>G (p.Leu1002Val)
|
rs375355193
|
0.00016
|
|
NM_001232.4(CASQ2):c.177G>A (p.Pro59=)
|
rs371260149
|
0.00016
|
|
NM_001267550.2(TTN):c.20772G>A (p.Lys6924=)
|
rs369993514
|
0.00016
|
|
NM_001267550.2(TTN):c.24165C>T (p.Tyr8055=)
|
rs376896085
|
0.00016
|
|
NM_001267550.2(TTN):c.37956G>T (p.Val12652=)
|
rs541757326
|
0.00016
|
|
NM_001267550.2(TTN):c.44593G>A (p.Glu14865Lys)
|
rs543102139
|
0.00016
|
|
NM_001267550.2(TTN):c.54740T>C (p.Met18247Thr)
|
rs200585270
|
0.00016
|
|
NM_001267550.2(TTN):c.62994C>T (p.Tyr20998=)
|
rs375006117
|
0.00016
|
|
NM_001267550.2(TTN):c.66549C>T (p.Asp22183=)
|
rs374667295
|
0.00016
|
|
NM_001267550.2(TTN):c.67959T>C (p.Phe22653=)
|
rs72646877
|
0.00016
|
|
NM_001267550.2(TTN):c.68823C>T (p.Tyr22941=)
|
rs200717463
|
0.00016
|
|
NM_001267550.2(TTN):c.7234C>T (p.Leu2412=)
|
rs138749618
|
0.00016
|
|
NM_001267550.2(TTN):c.72766A>G (p.Asn24256Asp)
|
rs187868672
|
0.00016
|
|
NM_001267550.2(TTN):c.80187G>A (p.Ala26729=)
|
rs779833666
|
0.00016
|
|
NM_001267550.2(TTN):c.85443A>G (p.Ala28481=)
|
rs373326137
|
0.00016
|
|
NM_001267550.2(TTN):c.87771C>A (p.Gly29257=)
|
rs72648230
|
0.00016
|
|
NM_001267550.2(TTN):c.96138A>T (p.Ile32046=)
|
rs368154623
|
0.00016
|
|
NM_001267550.2(TTN):c.96684C>T (p.Tyr32228=)
|
rs368423941
|
0.00016
|
|
NM_001267550.2(TTN):c.99969C>T (p.Ile33323=)
|
rs375403439
|
0.00016
|
|
NM_001347702.2(SYNE1):c.1446A>G (p.Val482=)
|
rs377088951
|
0.00016
|
|
NM_001386795.1(DTNA):c.1485G>A (p.Ala495=)
|
rs397517443
|
0.00016
|
|
NM_001458.5(FLNC):c.1108A>G (p.Met370Val)
|
rs370406338
|
0.00016
|
|
NM_001458.5(FLNC):c.1166G>A (p.Gly389Asp)
|
rs763039506
|
0.00016
|
|
NM_001458.5(FLNC):c.1923C>T (p.His641=)
|
rs375361259
|
0.00016
|
|
NM_001458.5(FLNC):c.2163C>A (p.Asn721Lys)
|
rs370539335
|
0.00016
|
|
NM_001458.5(FLNC):c.2747G>A (p.Arg916Gln)
|
rs143720860
|
0.00016
|
|
NM_001458.5(FLNC):c.3449G>A (p.Arg1150Gln)
|
rs371372377
|
0.00016
|
|
NM_001458.5(FLNC):c.4153C>T (p.Leu1385=)
|
rs202125701
|
0.00016
|
|
NM_001458.5(FLNC):c.4763C>G (p.Ala1588Gly)
|
rs148545460
|
0.00016
|
|
NM_001458.5(FLNC):c.96G>A (p.Ala32=)
|
rs368239688
|
0.00016
|
|
NM_001943.5(DSG2):c.783T>A (p.Arg261=)
|
rs369869320
|
0.00016
|
|
NM_001985.3(ETFB):c.577G>A (p.Ala193Thr)
|
rs200186078
|
0.00016
|
|
NM_002230.4(JUP):c.1172G>A (p.Ser391Asn)
|
rs199826380
|
0.00016
|
|
NM_002230.4(JUP):c.1924+8G>C
|
rs730880115
|
0.00016
|
|
NM_002230.4(JUP):c.2178C>T (p.Ile726=)
|
rs141295561
|
0.00016
|
|
NM_002471.4(MYH6):c.3894G>A (p.Ala1298=)
|
rs151135141
|
0.00016
|
|
NM_002471.4(MYH6):c.4560A>G (p.Glu1520=)
|
rs200918670
|
0.00016
|
|
NM_002471.4(MYH6):c.4812T>C (p.Asp1604=)
|
rs201667127
|
0.00016
|
|
NM_002633.3(PGM1):c.1137C>T (p.Phe379=)
|
rs367648776
|
0.00016
|
|
NM_002633.3(PGM1):c.1515C>T (p.Ser505=)
|
rs61760978
|
0.00016
|
|
NM_002633.3(PGM1):c.900T>C (p.His300=)
|
rs145807501
|
0.00016
|
|
NM_004281.4(BAG3):c.653G>A (p.Arg218Gln)
|
rs201638005
|
0.00016
|
|
NM_004415.4(DSP):c.7599T>C (p.Ala2533=)
|
rs374266378
|
0.00016
|
|
NM_004415.4(DSP):c.8482G>A (p.Gly2828Ser)
|
rs369682599
|
0.00016
|
|
NM_005159.5(ACTC1):c.141G>T (p.Val47=)
|
rs1409682416
|
0.00016
|
|
NM_006270.5(RRAS):c.516G>C (p.Ser172=)
|
rs199924228
|
0.00016
|
|
NM_006393.3(NEBL):c.1302C>G (p.Ile434Met)
|
rs202112717
|
0.00016
|
|
NM_006393.3(NEBL):c.2775C>T (p.Pro925=)
|
rs199887353
|
0.00016
|
|
NM_006440.5(TXNRD2):c.834C>G (p.Gly278=)
|
rs371075332
|
0.00016
|
|
NM_006939.4(SOS2):c.599A>G (p.Tyr200Cys)
|
rs148595463
|
0.00016
|
|
NM_013266.4(CTNNA3):c.718A>G (p.Thr240Ala)
|
rs367570454
|
0.00016
|
|
NM_014000.3(VCL):c.1842G>A (p.Thr614=)
|
rs144117013
|
0.00016
|
|
NM_014476.6(PDLIM3):c.399-18G>A
|
rs372273108
|
0.00016
|
|
NM_014476.6(PDLIM3):c.697G>C (p.Val233Leu)
|
rs143121072
|
0.00016
|
|
NM_015374.3(SUN2):c.1190+10G>A
|
rs367607098
|
0.00016
|
|
NM_015374.3(SUN2):c.1671C>T (p.Ser557=)
|
rs150014549
|
0.00016
|
|
NM_015374.3(SUN2):c.1716C>T (p.Ala572=)
|
rs369397415
|
0.00016
|
|
NM_015374.3(SUN2):c.425-11G>A
|
rs774550032
|
0.00016
|
|
NM_015374.3(SUN2):c.615-11G>A
|
rs368890492
|
0.00016
|
|
NM_016203.4(PRKAG2):c.1452G>A (p.Glu484=)
|
rs768299371
|
0.00016
|
|
NM_020297.4(ABCC9):c.4062G>A (p.Ser1354=)
|
rs145005748
|
0.00016
|
|
NM_020297.4(ABCC9):c.4512+765C>T
|
rs142875103
|
0.00016
|
|
NM_020433.5(JPH2):c.2052C>T (p.Asn684=)
|
rs779977095
|
0.00016
|
|
NM_022114.4(PRDM16):c.1578G>A (p.Pro526=)
|
rs376747653
|
0.00016
|
|
NM_024422.6(DSC2):c.2471C>T (p.Ser824Leu)
|
rs143413607
|
0.00016
|
|
NM_032578.4(MYPN):c.1900G>A (p.Gly634Arg)
|
rs148407539
|
0.00016
|
|
NM_032578.4(MYPN):c.2976C>T (p.Cys992=)
|
rs768202837
|
0.00016
|
|
NM_032578.4(MYPN):c.392G>T (p.Ser131Ile)
|
rs199853307
|
0.00016
|
|
NM_144573.4(NEXN):c.865-17A>G
|
rs201771600
|
0.00016
|
|
NM_144573.4(NEXN):c.893C>G (p.Thr298Arg)
|
rs200753280
|
0.00016
|
|
NM_182914.3(SYNE2):c.11061A>G (p.Ala3687=)
|
rs769752720
|
0.00016
|
|
NM_182914.3(SYNE2):c.15165A>G (p.Gln5055=)
|
rs145021738
|
0.00016
|
|
NM_182961.4(SYNE1):c.24861C>T (p.His8287=)
|
rs202207154
|
0.00016
|
|
NM_182961.4(SYNE1):c.5724C>T (p.Asp1908=)
|
rs375222186
|
0.00016
|
|
NM_182961.4(SYNE1):c.9807+15G>A
|
rs371593819
|
0.00016
|
|
NM_000257.4(MYH7):c.5562G>A (p.Thr1854=)
|
rs368706722
|
0.00015
|
|
NM_000257.4(MYH7):c.5790+15T>G
|
rs199975761
|
0.00015
|
|
NM_000337.6(SGCD):c.123C>G (p.Leu41=)
|
rs200670993
|
0.00015
|
|
NM_000371.4(TTR):c.384C>T (p.Ala128=)
|
rs143906738
|
0.00015
|
|
NM_001005242.3(PKP2):c.195C>T (p.Ala65=)
|
rs397517014
|
0.00015
|
|
NM_001005242.3(PKP2):c.2301C>T (p.Arg767=)
|
rs369166666
|
0.00015
|
|
NM_001105206.3(LAMA4):c.3087C>T (p.Pro1029=)
|
rs146880158
|
0.00015
|
|
NM_001105206.3(LAMA4):c.3147T>C (p.Ser1049=)
|
rs149203646
|
0.00015
|
|
NM_001105206.3(LAMA4):c.354C>T (p.Ile118=)
|
rs144933976
|
0.00015
|
|
NM_001134363.3(RBM20):c.3513G>A (p.Thr1171=)
|
rs184312864
|
0.00015
|
|
NM_001267550.2(TTN):c.104364C>T (p.Ser34788=)
|
rs181679744
|
0.00015
|
|
NM_001267550.2(TTN):c.19148-13A>G
|
rs376143407
|
0.00015
|
|
NM_001267550.2(TTN):c.48624T>C (p.Pro16208=)
|
rs72677240
|
0.00015
|
|
NM_001267550.2(TTN):c.80527T>C (p.Leu26843=)
|
rs142004835
|
0.00015
|
|
NM_001267550.2(TTN):c.85091G>A (p.Arg28364Gln)
|
rs376283153
|
0.00015
|
|
NM_001267550.2(TTN):c.92699A>G (p.Asn30900Ser)
|
rs186234393
|
0.00015
|
|
NM_001458.5(FLNC):c.3153G>A (p.Pro1051=)
|
rs373694043
|
0.00015
|
|
NM_001458.5(FLNC):c.3304C>T (p.Pro1102Ser)
|
rs199707920
|
0.00015
|
|
NM_001458.5(FLNC):c.7136-6C>A
|
rs368292177
|
0.00015
|
|
NM_001927.4(DES):c.243C>T (p.Ser81=)
|
rs201594392
|
0.00015
|
|
NM_001985.3(ETFB):c.264C>T (p.His88=)
|
rs562266125
|
0.00015
|
|
NM_002230.4(JUP):c.2086+13C>T
|
rs199935213
|
0.00015
|
|
NM_002471.4(MYH6):c.3195G>C (p.Gln1065His)
|
rs267606904
|
0.00015
|
|
NM_002471.4(MYH6):c.3732+13C>T
|
rs369889994
|
0.00015
|
|
NM_002471.4(MYH6):c.4386T>C (p.Tyr1462=)
|
rs149314355
|
0.00015
|
|
NM_003803.4(MYOM1):c.2087G>A (p.Arg696His)
|
rs767192545
|
0.00015
|
|
NM_003803.4(MYOM1):c.840C>A (p.Ile280=)
|
rs371804804
|
0.00015
|
|
NM_004100.5(EYA4):c.725-15G>T
|
rs151179883
|
0.00015
|
|
NM_004453.4(ETFDH):c.1479T>C (p.Phe493=)
|
rs1423401867
|
0.00015
|
|
NM_004453.4(ETFDH):c.972+13C>T
|
rs199589412
|
0.00015
|
|
NM_005921.2(MAP3K1):c.743G>A (p.Arg248Gln)
|
rs201579608
|
0.00015
|
|
NM_006073.4(TRDN):c.239C>T (p.Ser80Phe)
|
rs181287533
|
0.00015
|
|
NM_006270.5(RRAS):c.255G>A (p.Ala85=)
|
rs142801791
|
0.00015
|
|
NM_006270.5(RRAS):c.600G>A (p.Pro200=)
|
rs183538580
|
0.00015
|
|
NM_006912.6(RIT1):c.237+10C>A
|
rs367785615
|
0.00015
|
|
NM_006939.4(SOS2):c.2057+19T>A
|
rs544924513
|
0.00015
|
|
NM_016203.4(PRKAG2):c.1678+10T>C
|
rs369965019
|
0.00015
|
|
NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly)
|
rs201240745
|
0.00015
|
|
NM_020433.5(JPH2):c.579C>T (p.Pro193=)
|
rs534491843
|
0.00015
|
|
NM_022114.4(PRDM16):c.2748G>A (p.Ala916=)
|
rs370768364
|
0.00015
|
|
NM_022114.4(PRDM16):c.439-17C>T
|
rs370432632
|
0.00015
|
|
NM_024422.6(DSC2):c.1521-7C>T
|
rs374810953
|
0.00015
|
|
NM_182914.3(SYNE2):c.13708-13C>T
|
rs146315545
|
0.00015
|
|
NM_182914.3(SYNE2):c.16856A>G (p.Asp5619Gly)
|
rs139187222
|
0.00015
|
|
NM_182914.3(SYNE2):c.18540+20C>T
|
rs373805773
|
0.00015
|
|
NM_182914.3(SYNE2):c.19635C>T (p.Ala6545=)
|
rs149510065
|
0.00015
|
|
NM_182914.3(SYNE2):c.20448C>T (p.Ser6816=)
|
rs546213944
|
0.00015
|
|
NM_182914.3(SYNE2):c.2473-13T>C
|
rs370070538
|
0.00015
|
|
NM_182961.4(SYNE1):c.19573-12G>C
|
rs200455883
|
0.00015
|
|
NM_182961.4(SYNE1):c.25120-6A>G
|
rs201898019
|
0.00015
|
|
NM_182961.4(SYNE1):c.4723C>T (p.Leu1575Phe)
|
rs200424447
|
0.00015
|
|
NM_182961.4(SYNE1):c.9927G>A (p.Pro3309=)
|
rs140830584
|
0.00015
|
|
NM_000018.4(ACADVL):c.1227G>A (p.Thr409=)
|
rs778531268
|
0.00014
|
|
NM_000018.4(ACADVL):c.759G>A (p.Gly253=)
|
rs148073142
|
0.00014
|
|
NM_000117.3(EMD):c.537G>A (p.Leu179=)
|
rs368661339
|
0.00014
|
|
NM_000152.5(GAA):c.1593C>T (p.Asp531=)
|
rs138732016
|
0.00014
|
|
NM_000152.5(GAA):c.2052G>A (p.Pro684=)
|
rs546463058
|
0.00014
|
|
NM_000182.5(HADHA):c.1465A>G (p.Lys489Glu)
|
rs145422395
|
0.00014
|
|
NM_000231.3(SGCG):c.438C>T (p.Asp146=)
|
rs144497243
|
0.00014
|
|
NM_000232.5(SGCB):c.18G>A (p.Ala6=)
|
rs998759536
|
0.00014
|
|
NM_000256.3(MYBPC3):c.1020C>T (p.Tyr340=)
|
rs556616131
|
0.00014
|
|
NM_000256.3(MYBPC3):c.654+17C>T
|
rs369864892
|
0.00014
|
|
NM_000257.4(MYH7):c.2162+17A>C
|
rs575365669
|
0.00014
|
|
NM_000257.4(MYH7):c.3861G>C (p.Leu1287=)
|
rs150292548
|
0.00014
|
|
NM_000257.4(MYH7):c.4170-8C>A
|
rs199632504
|
0.00014
|
|
NM_000257.4(MYH7):c.4513C>T (p.Leu1505=)
|
rs139928934
|
0.00014
|
|
NM_000257.4(MYH7):c.957C>T (p.Thr319=)
|
rs368699342
|
0.00014
|
|
NM_000432.4(MYL2):c.274+8C>T
|
rs397516400
|
0.00014
|
|
NM_001005242.3(PKP2):c.1171-17A>G
|
rs372942306
|
0.00014
|
|
NM_001005242.3(PKP2):c.1379-2066C>T
|
rs373399921
|
0.00014
|
|
NM_001018005.2(TPM1):c.114+14C>T
|
rs576659891
|
0.00014
|
|
NM_001035.3(RYR2):c.10523T>C (p.Ile3508Thr)
|
rs115622575
|
0.00014
|
|
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg)
|
rs200450676
|
0.00014
|
|
NM_001035.3(RYR2):c.8367T>C (p.Ile2789=)
|
rs563219502
|
0.00014
|
|
NM_001035.3(RYR2):c.8378G>A (p.Arg2793Gln)
|
rs559773178
|
0.00014
|
|
NM_001035.3(RYR2):c.8830+17C>T
|
rs1042309310
|
0.00014
|
|
NM_001103.4(ACTN2):c.1930G>A (p.Ala644Thr)
|
rs146164600
|
0.00014
|
|
NM_001103.4(ACTN2):c.1983C>T (p.Ala661=)
|
rs372137571
|
0.00014
|
|
NM_001103.4(ACTN2):c.536+18C>T
|
rs372436409
|
0.00014
|
|
NM_001103.4(ACTN2):c.615+15C>T
|
rs369293885
|
0.00014
|
|
NM_001105206.3(LAMA4):c.1674G>A (p.Ala558=)
|
rs150809897
|
0.00014
|
|
NM_001105206.3(LAMA4):c.2334G>A (p.Val778=)
|
rs559504162
|
0.00014
|
|
NM_001105206.3(LAMA4):c.2850G>A (p.Pro950=)
|
rs368741631
|
0.00014
|
|
NM_001105206.3(LAMA4):c.2977-16T>A
|
rs368833887
|
0.00014
|
|
NM_001105206.3(LAMA4):c.3558-17C>T
|
rs369354617
|
0.00014
|
|
NM_001105206.3(LAMA4):c.3558-7T>C
|
rs200864778
|
0.00014
|
|
NM_001105206.3(LAMA4):c.873C>T (p.Ile291=)
|
rs141611768
|
0.00014
|
|
NM_001134363.3(RBM20):c.1497C>T (p.Pro499=)
|
rs727505095
|
0.00014
|
|
NM_001134363.3(RBM20):c.1633G>A (p.Val545Ile)
|
rs397516596
|
0.00014
|
|
NM_001134363.3(RBM20):c.1958C>T (p.Thr653Ile)
|
rs727505310
|
0.00014
|
|
NM_001134363.3(RBM20):c.3512C>T (p.Thr1171Met)
|
rs371181124
|
0.00014
|
|
NM_001134363.3(RBM20):c.3573+16C>T
|
rs772863559
|
0.00014
|
|
NM_001161403.3(LIMS2):c.11+1274A>G
|
rs746982868
|
0.00014
|
|
NM_001161403.3(LIMS2):c.95A>G (p.Asn32Ser)
|
rs764187109
|
0.00014
|
|
NM_001267550.2(TTN):c.102102C>T (p.Phe34034=)
|
rs377354934
|
0.00014
|
|
NM_001267550.2(TTN):c.103104A>G (p.Leu34368=)
|
rs371535721
|
0.00014
|
|
NM_001267550.2(TTN):c.15180C>T (p.Val5060=)
|
rs376217206
|
0.00014
|
|
NM_001267550.2(TTN):c.15333C>T (p.Asp5111=)
|
rs368695667
|
0.00014
|
|
NM_001267550.2(TTN):c.1800+10T>C
|
rs767071465
|
0.00014
|
|
NM_001267550.2(TTN):c.21197A>G (p.Lys7066Arg)
|
rs553548392
|
0.00014
|
|
NM_001267550.2(TTN):c.21962-6C>T
|
rs374870814
|
0.00014
|
|
NM_001267550.2(TTN):c.23029G>A (p.Gly7677Arg)
|
rs367826445
|
0.00014
|
|
NM_001267550.2(TTN):c.24108G>A (p.Ser8036=)
|
rs752974196
|
0.00014
|
|
NM_001267550.2(TTN):c.25758C>T (p.Asp8586=)
|
rs372802604
|
0.00014
|
|
NM_001267550.2(TTN):c.30888A>G (p.Lys10296=)
|
rs587780978
|
0.00014
|
|
NM_001267550.2(TTN):c.33838C>T (p.Pro11280Ser)
|
rs374449452
|
0.00014
|
|
NM_001267550.2(TTN):c.3835A>T (p.Met1279Leu)
|
rs374497665
|
0.00014
|
|
NM_001267550.2(TTN):c.39813A>G (p.Pro13271=)
|
rs373429851
|
0.00014
|
|
NM_001267550.2(TTN):c.43260C>T (p.Phe14420=)
|
rs372382546
|
0.00014
|
|
NM_001267550.2(TTN):c.43480+20A>T
|
rs375939057
|
0.00014
|
|
NM_001267550.2(TTN):c.44282-6G>A
|
rs372166634
|
0.00014
|
|
NM_001267550.2(TTN):c.49648+13T>A
|
rs368996176
|
0.00014
|
|
NM_001267550.2(TTN):c.51739+19A>C
|
rs536756644
|
0.00014
|
|
NM_001267550.2(TTN):c.52331G>A (p.Arg17444His)
|
rs376080116
|
0.00014
|
|
NM_001267550.2(TTN):c.86002A>G (p.Ile28668Val)
|
rs72648225
|
0.00014
|
|
NM_001267550.2(TTN):c.86025G>A (p.Pro28675=)
|
rs369528150
|
0.00014
|
|
NM_001267550.2(TTN):c.8902+16_8902+18del
|
rs770193619
|
0.00014
|
|
NM_001267550.2(TTN):c.89946C>T (p.Val29982=)
|
rs373311459
|
0.00014
|
|
NM_001267550.2(TTN):c.95016T>C (p.Thr31672=)
|
rs367549998
|
0.00014
|
|
NM_001267550.2(TTN):c.99289+19T>C
|
rs370055296
|
0.00014
|
|
NM_001267550.2(TTN):c.99340T>C (p.Leu33114=)
|
rs371656672
|
0.00014
|
|
NM_001458.5(FLNC):c.1259G>A (p.Arg420Gln)
|
rs371410741
|
0.00014
|
|
NM_001458.5(FLNC):c.2266-5C>T
|
rs371960827
|
0.00014
|
|
NM_001458.5(FLNC):c.3242C>T (p.Ala1081Val)
|
rs200169573
|
0.00014
|
|
NM_001458.5(FLNC):c.4296G>A (p.Pro1432=)
|
rs370827536
|
0.00014
|
|
NM_001458.5(FLNC):c.4334A>G (p.Lys1445Arg)
|
rs371591881
|
0.00014
|
|
NM_001458.5(FLNC):c.4367G>C (p.Gly1456Ala)
|
rs775049569
|
0.00014
|
|
NM_001458.5(FLNC):c.5020G>A (p.Gly1674Ser)
|
rs374124083
|
0.00014
|
|
NM_001458.5(FLNC):c.5432G>A (p.Arg1811Gln)
|
rs369759751
|
0.00014
|
|
NM_001458.5(FLNC):c.6594C>T (p.Gly2198=)
|
rs754112206
|
0.00014
|
|
NM_001458.5(FLNC):c.7596T>C (p.Asn2532=)
|
rs377522797
|
0.00014
|
|
NM_001943.5(DSG2):c.3353C>T (p.Ser1118Phe)
|
rs368703304
|
0.00014
|
|
NM_002230.4(JUP):c.708-4C>G
|
rs201313464
|
0.00014
|
|
NM_002230.4(JUP):c.801C>T (p.Ala267=)
|
rs138397457
|
0.00014
|
|
NM_002230.4(JUP):c.84G>A (p.Ser28=)
|
rs144137028
|
0.00014
|
|
NM_002471.4(MYH6):c.5544C>T (p.Arg1848=)
|
rs147348589
|
0.00014
|
|
NM_003803.4(MYOM1):c.1920C>A (p.Pro640=)
|
rs376973186
|
0.00014
|
|
NM_003803.4(MYOM1):c.4648+7A>G
|
rs555598943
|
0.00014
|
|
NM_004415.4(DSP):c.242G>A (p.Cys81Tyr)
|
rs140965835
|
0.00014
|
|
NM_004415.4(DSP):c.521G>T (p.Cys174Phe)
|
rs377507763
|
0.00014
|
|
NM_004415.4(DSP):c.6192T>C (p.Asn2064=)
|
rs371230455
|
0.00014
|
|
NM_004415.4(DSP):c.889G>A (p.Asp297Asn)
|
rs201930322
|
0.00014
|
|
NM_004453.4(ETFDH):c.1518G>A (p.Glu506=)
|
rs146882697
|
0.00014
|
|
NM_005159.5(ACTC1):c.130-9T>C
|
rs147406641
|
0.00014
|
|
NM_005343.4(HRAS):c.102C>T (p.Pro34=)
|
rs149199691
|
0.00014
|
|
NM_006284.4(TAF10):c.*1417G>T
|
rs375371977
|
0.00014
|
|
NM_006393.3(NEBL):c.240C>T (p.Ile80=)
|
rs727503337
|
0.00014
|
|
NM_006393.3(NEBL):c.2868+9C>T
|
rs377236750
|
0.00014
|
|
NM_006393.3(NEBL):c.489T>C (p.Tyr163=)
|
rs141153708
|
0.00014
|
|
NM_006440.5(TXNRD2):c.1182+20G>A
|
rs369759249
|
0.00014
|
|
NM_006440.5(TXNRD2):c.1276-15G>A
|
rs374202570
|
0.00014
|
|
NM_006440.5(TXNRD2):c.771C>T (p.Asp257=)
|
rs536545192
|
0.00014
|
|
NM_006939.4(SOS2):c.2385-12T>C
|
rs372154027
|
0.00014
|
|
NM_006939.4(SOS2):c.2786-6T>A
|
rs552609367
|
0.00014
|
|
NM_012082.4(ZFPM2):c.285C>T (p.Asp95=)
|
rs371910925
|
0.00014
|
|
NM_013266.4(CTNNA3):c.1374+10C>T
|
rs375506184
|
0.00014
|
|
NM_013266.4(CTNNA3):c.1848A>T (p.Thr616=)
|
rs182490263
|
0.00014
|
|
NM_013266.4(CTNNA3):c.768A>G (p.Ser256=)
|
rs140926333
|
0.00014
|
|
NM_015374.3(SUN2):c.2034C>T (p.His678=)
|
rs539775471
|
0.00014
|
|
NM_015374.3(SUN2):c.287-16G>A
|
rs749337613
|
0.00014
|
|
NM_020297.4(ABCC9):c.1332C>T (p.Gly444=)
|
rs369830406
|
0.00014
|
|
NM_020297.4(ABCC9):c.3316-4A>C
|
rs201147809
|
0.00014
|
|
NM_022114.4(PRDM16):c.1187-10G>C
|
rs201517837
|
0.00014
|
|
NM_022114.4(PRDM16):c.1815G>A (p.Glu605=)
|
rs566856228
|
0.00014
|
|
NM_022114.4(PRDM16):c.2154G>A (p.Ser718=)
|
rs781041726
|
0.00014
|
|
NM_022114.4(PRDM16):c.3675G>C (p.Leu1225=)
|
rs201038279
|
0.00014
|
|
NM_024334.3(TMEM43):c.864C>T (p.His288=)
|
rs377585035
|
0.00014
|
|
NM_024422.6(DSC2):c.2226A>G (p.Thr742=)
|
rs142807209
|
0.00014
|
|
NM_144573.4(NEXN):c.1806G>A (p.Thr602=)
|
rs373102543
|
0.00014
|
|
NM_145046.5(CALR3):c.215G>A (p.Gly72Asp)
|
rs182376945
|
0.00014
|
|
NM_181703.4(GJA5):c.798C>T (p.Asp266=)
|
rs116155008
|
0.00014
|
|
NM_182914.3(SYNE2):c.13707+17G>A
|
rs190625160
|
0.00014
|
|
NM_182914.3(SYNE2):c.14976+10A>G
|
rs367888426
|
0.00014
|
|
NM_182914.3(SYNE2):c.20383-9G>A
|
rs373857906
|
0.00014
|
|
NM_182961.4(SYNE1):c.12393C>A (p.Gly4131=)
|
rs375707429
|
0.00014
|
|
NM_182961.4(SYNE1):c.12615G>A (p.Ser4205=)
|
rs138650597
|
0.00014
|
|
NM_182961.4(SYNE1):c.19026C>T (p.Asp6342=)
|
rs370053768
|
0.00014
|
|
NM_182961.4(SYNE1):c.3498C>T (p.Ala1166=)
|
rs144235226
|
0.00014
|
|
NM_182961.4(SYNE1):c.4824G>A (p.Ala1608=)
|
rs369587906
|
0.00014
|
|
NM_182961.4(SYNE1):c.7029+15A>G
|
rs757201043
|
0.00014
|
|
NM_000018.4(ACADVL):c.756T>C (p.Asn252=)
|
rs143233413
|
0.00013
|
|
NM_000023.4(SGCA):c.328C>T (p.Arg110Trp)
|
rs200137051
|
0.00013
|
|
NM_000023.4(SGCA):c.408C>T (p.Ala136=)
|
rs143551687
|
0.00013
|
|
NM_000023.4(SGCA):c.819G>T (p.Pro273=)
|
rs35972733
|
0.00013
|
|
NM_000023.4(SGCA):c.981C>T (p.Ser327=)
|
rs368522117
|
0.00013
|
|
NM_000152.5(GAA):c.1755-7A>G
|
rs781539108
|
0.00013
|
|
NM_000152.5(GAA):c.2381G>A (p.Arg794His)
|
rs200505871
|
0.00013
|
|
NM_000182.5(HADHA):c.68-13T>C
|
rs182123964
|
0.00013
|
|
NM_000232.5(SGCB):c.430-15C>A
|
rs372157108
|
0.00013
|
|
NM_000256.3(MYBPC3):c.3326C>T (p.Thr1109Ile)
|
rs397516016
|
0.00013
|
|
NM_000256.3(MYBPC3):c.501C>T (p.Thr167=)
|
rs397516054
|
0.00013
|
|
NM_000256.3(MYBPC3):c.772+9G>T
|
rs566339669
|
0.00013
|
|
NM_000257.4(MYH7):c.2526T>C (p.Ser842=)
|
rs554560162
|
0.00013
|
|
NM_000257.4(MYH7):c.3726+6C>T
|
rs377745688
|
0.00013
|
|
NM_001005242.3(PKP2):c.1842A>G (p.Gln614=)
|
rs138901574
|
0.00013
|
|
NM_001035.3(RYR2):c.11811C>T (p.His3937=)
|
rs370924416
|
0.00013
|
|
NM_001035.3(RYR2):c.14703G>C (p.Val4901=)
|
rs201371633
|
0.00013
|
|
NM_001035.3(RYR2):c.3153C>T (p.Arg1051=)
|
rs397516524
|
0.00013
|
|
NM_001035.3(RYR2):c.3251G>A (p.Arg1084Lys)
|
rs193922624
|
0.00013
|
|
NM_001035.3(RYR2):c.3951G>A (p.Thr1317=)
|
rs372097270
|
0.00013
|
|
NM_001035.3(RYR2):c.5373C>A (p.Thr1791=)
|
rs765283048
|
0.00013
|
|
NM_001035.3(RYR2):c.7062C>T (p.Ala2354=)
|
rs182038403
|
0.00013
|
|
NM_001035.3(RYR2):c.9963G>A (p.Pro3321=)
|
rs199730192
|
0.00013
|
|
NM_001103.4(ACTN2):c.1040C>T (p.Thr347Met)
|
rs727504590
|
0.00013
|
|
NM_001122630.2(CDKN1C):c.320C>T (p.Pro107Leu)
|
rs771731330
|
0.00013
|
|
NM_001130965.3(SUN1):c.1398G>A (p.Ala466=)
|
rs752157539
|
0.00013
|
|
NM_001134363.3(RBM20):c.1050C>T (p.Tyr350=)
|
rs778124998
|
0.00013
|
|
NM_001134363.3(RBM20):c.1129G>A (p.Gly377Ser)
|
rs923358109
|
0.00013
|
|
NM_001232.4(CASQ2):c.533-6C>T
|
rs545407254
|
0.00013
|
|
NM_001267550.2(TTN):c.10115-4G>A
|
rs367648529
|
0.00013
|
|
NM_001267550.2(TTN):c.10537T>C (p.Phe3513Leu)
|
rs771751290
|
0.00013
|
|
NM_001267550.2(TTN):c.1280C>T (p.Ala427Val)
|
rs759339096
|
0.00013
|
|
NM_001267550.2(TTN):c.12889T>G (p.Cys4297Gly)
|
rs377063950
|
0.00013
|
|
NM_001267550.2(TTN):c.1521C>T (p.His507=)
|
rs372875660
|
0.00013
|
|
NM_001267550.2(TTN):c.16091G>A (p.Arg5364His)
|
rs200941841
|
0.00013
|
|
NM_001267550.2(TTN):c.18843A>G (p.Ser6281=)
|
rs755958191
|
0.00013
|
|
NM_001267550.2(TTN):c.23925C>T (p.Ser7975=)
|
rs374879942
|
0.00013
|
|
NM_001267550.2(TTN):c.28131C>T (p.Asn9377=)
|
rs72648997
|
0.00013
|
|
NM_001267550.2(TTN):c.28320C>T (p.Gly9440=)
|
rs375083775
|
0.00013
|
|
NM_001267550.2(TTN):c.3318C>T (p.Gly1106=)
|
rs141768043
|
0.00013
|
|
NM_001267550.2(TTN):c.35313G>A (p.Pro11771=)
|
rs369739111
|
0.00013
|
|
NM_001267550.2(TTN):c.36405G>A (p.Val12135=)
|
rs373815877
|
0.00013
|
|
NM_001267550.2(TTN):c.38733C>T (p.Val12911=)
|
rs760384854
|
0.00013
|
|
NM_001267550.2(TTN):c.38875+20G>T
|
rs773913022
|
0.00013
|
|
NM_001267550.2(TTN):c.41885-16T>C
|
rs368838630
|
0.00013
|
|
NM_001267550.2(TTN):c.53166C>T (p.Asn17722=)
|
rs371730757
|
0.00013
|
|
NM_001267550.2(TTN):c.57262+15T>G
|
rs370875441
|
0.00013
|
|
NM_001267550.2(TTN):c.5742G>A (p.Ala1914=)
|
rs368719553
|
0.00013
|
|
NM_001267550.2(TTN):c.68640G>A (p.Lys22880=)
|
rs370292933
|
0.00013
|
|
NM_001267550.2(TTN):c.71883T>C (p.Val23961=)
|
rs368692510
|
0.00013
|
|
NM_001267550.2(TTN):c.86355T>C (p.Asn28785=)
|
rs745857020
|
0.00013
|
|
NM_001267550.2(TTN):c.86935G>A (p.Val28979Ile)
|
rs201687390
|
0.00013
|
|
NM_001267550.2(TTN):c.89708C>G (p.Thr29903Ser)
|
rs72648240
|
0.00013
|
|
NM_001267550.2(TTN):c.8976G>A (p.Val2992=)
|
rs544348559
|
0.00013
|
|
NM_001267550.2(TTN):c.95082C>T (p.Ser31694=)
|
rs776679937
|
0.00013
|
|
NM_001267550.2(TTN):c.95094C>T (p.Ala31698=)
|
rs373509153
|
0.00013
|
|
NM_001318895.3(FHL2):c.507C>T (p.Ile169=)
|
rs539301452
|
0.00013
|
|
NM_001458.5(FLNC):c.2297G>A (p.Arg766Gln)
|
rs369935650
|
0.00013
|
|
NM_001458.5(FLNC):c.3090C>T (p.Pro1030=)
|
rs760926290
|
0.00013
|
|
NM_001458.5(FLNC):c.3791-8G>A
|
rs374187337
|
0.00013
|
|
NM_001458.5(FLNC):c.4480C>T (p.Arg1494Trp)
|
rs779079128
|
0.00013
|
|
NM_001458.5(FLNC):c.600C>T (p.Pro200=)
|
rs202105410
|
0.00013
|
|
NM_001927.4(DES):c.1257C>T (p.Pro419=)
|
rs143154982
|
0.00013
|
|
NM_001943.5(DSG2):c.45+9C>G
|
rs376573409
|
0.00013
|
|
NM_002471.4(MYH6):c.1252G>A (p.Val418Met)
|
rs147606900
|
0.00013
|
|
NM_002471.4(MYH6):c.4526-9G>C
|
rs201785356
|
0.00013
|
|
NM_003803.4(MYOM1):c.3063G>A (p.Ala1021=)
|
rs373744359
|
0.00013
|
|
NM_003803.4(MYOM1):c.4995C>T (p.Ile1665=)
|
rs367698263
|
0.00013
|
|
NM_004281.4(BAG3):c.1029C>A (p.Arg343=)
|
rs117972572
|
0.00013
|
|
NM_004415.4(DSP):c.1575-15C>G
|
rs369184165
|
0.00013
|
|
NM_004415.4(DSP):c.2552T>A (p.Leu851Gln)
|
rs111368396
|
0.00013
|
|
NM_004415.4(DSP):c.3562T>C (p.Tyr1188His)
|
rs141508330
|
0.00013
|
|
NM_004415.4(DSP):c.4386C>T (p.Ser1462=)
|
rs149981214
|
0.00013
|
|
NM_006939.4(SOS2):c.195G>A (p.Arg65=)
|
rs1803661
|
0.00013
|
|
NM_006939.4(SOS2):c.2328A>G (p.Thr776=)
|
rs116162949
|
0.00013
|
|
NM_014000.3(VCL):c.2827C>G (p.Pro943Ala)
|
rs71579375
|
0.00013
|
|
NM_014476.6(PDLIM3):c.696C>T (p.Asp232=)
|
rs148256486
|
0.00013
|
|
NM_014908.4(DOLK):c.633C>T (p.Arg211=)
|
rs147647278
|
0.00013
|
|
NM_014908.4(DOLK):c.975C>T (p.Ser325=)
|
rs149462670
|
0.00013
|
|
NM_015374.3(SUN2):c.425-9T>C
|
rs375405393
|
0.00013
|
|
NM_015374.3(SUN2):c.635C>T (p.Thr212Met)
|
rs142155226
|
0.00013
|
|
NM_022114.4(PRDM16):c.1033-10G>A
|
rs370090853
|
0.00013
|
|
NM_022114.4(PRDM16):c.1668G>A (p.Leu556=)
|
rs372910329
|
0.00013
|
|
NM_022114.4(PRDM16):c.884+7C>T
|
rs373228175
|
0.00013
|
|
NM_024422.6(DSC2):c.1788G>A (p.Ala596=)
|
rs146161960
|
0.00013
|
|
NM_024422.6(DSC2):c.2298G>C (p.Gln766His)
|
rs139558481
|
0.00013
|
|
NM_032578.4(MYPN):c.1483+11T>C
|
rs765156367
|
0.00013
|
|
NM_033118.4(MYLK2):c.381G>A (p.Arg127=)
|
rs141524173
|
0.00013
|
|
NM_182914.3(SYNE2):c.17000+20T>C
|
rs376879878
|
0.00013
|
|
NM_182961.4(SYNE1):c.19689C>A (p.Leu6563=)
|
rs372285648
|
0.00013
|
|
NM_182961.4(SYNE1):c.20070G>C (p.Thr6690=)
|
rs141263831
|
0.00013
|
|
NM_182961.4(SYNE1):c.21612C>T (p.Pro7204=)
|
rs141170182
|
0.00013
|
|
NM_182961.4(SYNE1):c.21876A>G (p.Gly7292=)
|
rs375826346
|
0.00013
|
|
NM_000152.5(GAA):c.1860C>T (p.Ser620=)
|
rs370369972
|
0.00012
|
|
NM_000152.5(GAA):c.2331+11G>C
|
rs376709495
|
0.00012
|
|
NM_000152.5(GAA):c.663C>T (p.Ile221=)
|
rs142878958
|
0.00012
|
|
NM_000182.5(HADHA):c.1085+17G>A
|
rs183045060
|
0.00012
|
|
NM_000231.3(SGCG):c.354A>G (p.Ser118=)
|
rs376184429
|
0.00012
|
|
NM_000256.3(MYBPC3):c.12G>A (p.Pro4=)
|
rs377292092
|
0.00012
|
|
NM_000256.3(MYBPC3):c.2487G>T (p.Leu829=)
|
rs201040413
|
0.00012
|
|
NM_000256.3(MYBPC3):c.531C>T (p.Arg177=)
|
rs368035400
|
0.00012
|
|
NM_000256.3(MYBPC3):c.666C>T (p.Phe222=)
|
rs371331114
|
0.00012
|
|
NM_000257.4(MYH7):c.240C>T (p.Asn80=)
|
rs200493975
|
0.00012
|
|
NM_000257.4(MYH7):c.4953+17G>A
|
rs376604168
|
0.00012
|
|
NM_000363.5(TNNI3):c.132G>C (p.Ser44=)
|
rs727504941
|
0.00012
|
|
NM_000363.5(TNNI3):c.207C>G (p.Arg69=)
|
rs201422579
|
0.00012
|
|
NM_001005242.3(PKP2):c.1379-2005A>G
|
rs397516995
|
0.00012
|
|
NM_001105206.3(LAMA4):c.5270C>T (p.Pro1757Leu)
|
rs200177134
|
0.00012
|
|
NM_001134363.3(RBM20):c.1027C>T (p.His343Tyr)
|
rs112226602
|
0.00012
|
|
NM_001134363.3(RBM20):c.3177A>G (p.Pro1059=)
|
rs562290651
|
0.00012
|
|
NM_001267550.2(TTN):c.100869A>G (p.Pro33623=)
|
rs528099201
|
0.00012
|
|
NM_001267550.2(TTN):c.102156G>T (p.Arg34052=)
|
rs376894729
|
0.00012
|
|
NM_001267550.2(TTN):c.106974C>T (p.Ser35658=)
|
rs761795663
|
0.00012
|
|
NM_001267550.2(TTN):c.107082G>A (p.Leu35694=)
|
rs727505278
|
0.00012
|
|
NM_001267550.2(TTN):c.19881G>A (p.Ser6627=)
|
rs371495674
|
0.00012
|
|
NM_001267550.2(TTN):c.204C>T (p.Pro68=)
|
rs201089861
|
0.00012
|
|
NM_001267550.2(TTN):c.24505+13C>T
|
rs534803807
|
0.00012
|
|
NM_001267550.2(TTN):c.29313C>T (p.Cys9771=)
|
rs375017037
|
0.00012
|
|
NM_001267550.2(TTN):c.31594+16T>C
|
rs552832521
|
0.00012
|
|
NM_001267550.2(TTN):c.36830C>T (p.Ala12277Val)
|
rs878854300
|
0.00012
|
|
NM_001267550.2(TTN):c.48394C>T (p.Arg16132Cys)
|
rs2303830
|
0.00012
|
|
NM_001267550.2(TTN):c.51887G>A (p.Arg17296His)
|
rs200456782
|
0.00012
|
|
NM_001267550.2(TTN):c.5198C>T (p.Thr1733Met)
|
rs367700246
|
0.00012
|
|
NM_001267550.2(TTN):c.54321A>G (p.Ala18107=)
|
rs368021072
|
0.00012
|
|
NM_001267550.2(TTN):c.56850G>A (p.Val18950=)
|
rs368068200
|
0.00012
|
|
NM_001267550.2(TTN):c.58362C>T (p.Ser19454=)
|
rs374998127
|
0.00012
|
|
NM_001267550.2(TTN):c.62136C>T (p.Ser20712=)
|
rs901971997
|
0.00012
|
|
NM_001267550.2(TTN):c.71373T>G (p.Leu23791=)
|
rs56245285
|
0.00012
|
|
NM_001267550.2(TTN):c.77052C>T (p.Gly25684=)
|
rs372543652
|
0.00012
|
|
NM_001267550.2(TTN):c.82688G>A (p.Arg27563His)
|
rs118079537
|
0.00012
|
|
NM_001267550.2(TTN):c.85275T>C (p.Thr28425=)
|
rs376484117
|
0.00012
|
|
NM_001267550.2(TTN):c.85651C>A (p.Pro28551Thr)
|
rs142478636
|
0.00012
|
|
NM_001458.5(FLNC):c.1568T>C (p.Val523Ala)
|
rs182845462
|
0.00012
|
|
NM_001458.5(FLNC):c.5426C>T (p.Thr1809Met)
|
rs369118592
|
0.00012
|
|
NM_001458.5(FLNC):c.6689G>A (p.Arg2230His)
|
rs376035195
|
0.00012
|
|
NM_001458.5(FLNC):c.7803C>T (p.His2601=)
|
rs749737805
|
0.00012
|
|
NM_001943.5(DSG2):c.3283C>A (p.His1095Asn)
|
rs140193292
|
0.00012
|
|
NM_002230.4(JUP):c.1959C>T (p.Ser653=)
|
rs375451560
|
0.00012
|
|
NM_002471.4(MYH6):c.115G>A (p.Val39Met)
|
rs142850511
|
0.00012
|
|
NM_002471.4(MYH6):c.3342+10T>C
|
rs552662475
|
0.00012
|
|
NM_002471.4(MYH6):c.3893C>T (p.Ala1298Val)
|
rs368588052
|
0.00012
|
|
NM_003803.4(MYOM1):c.3388G>T (p.Ala1130Ser)
|
rs375291963
|
0.00012
|
|
NM_004415.4(DSP):c.3600T>G (p.Asn1200Lys)
|
rs202049575
|
0.00012
|
|
NM_004415.4(DSP):c.7125G>A (p.Gly2375=)
|
rs141709096
|
0.00012
|
|
NM_005159.5(ACTC1):c.1092C>T (p.Tyr364=)
|
rs140261885
|
0.00012
|
|
NM_005921.2(MAP3K1):c.2571G>A (p.Met857Ile)
|
rs367884272
|
0.00012
|
|
NM_006073.4(TRDN):c.300G>A (p.Thr100=)
|
rs377393927
|
0.00012
|
|
NM_006393.3(NEBL):c.1008+14C>T
|
rs369037243
|
0.00012
|
|
NM_006440.5(TXNRD2):c.103+13C>T
|
rs917431888
|
0.00012
|
|
NM_006440.5(TXNRD2):c.96C>T (p.Gly32=)
|
rs767140410
|
0.00012
|
|
NM_006939.4(SOS2):c.702G>A (p.Leu234=)
|
rs200208472
|
0.00012
|
|
NM_014000.3(VCL):c.2796T>C (p.Asp932=)
|
rs140308982
|
0.00012
|
|
NM_014908.4(DOLK):c.1446G>A (p.Ala482=)
|
rs201027607
|
0.00012
|
|
NM_015374.3(SUN2):c.396G>A (p.Ser132=)
|
rs374648086
|
0.00012
|
|
NM_016203.4(PRKAG2):c.1267C>A (p.Gln423Lys)
|
rs147349145
|
0.00012
|
|
NM_016203.4(PRKAG2):c.1496A>G (p.Gln499Arg)
|
rs781741013
|
0.00012
|
|
NM_016599.5(MYOZ2):c.76+10A>G
|
rs372006344
|
0.00012
|
|
NM_020297.4(ABCC9):c.2339+13A>G
|
rs189255166
|
0.00012
|
|
NM_022114.4(PRDM16):c.21G>A (p.Ala7=)
|
rs370334235
|
0.00012
|
|
NM_022114.4(PRDM16):c.2426G>C (p.Ser809Thr)
|
rs765866896
|
0.00012
|
|
NM_022114.4(PRDM16):c.2797C>T (p.Arg933Trp)
|
rs371460126
|
0.00012
|
|
NM_032578.4(MYPN):c.2877C>T (p.Gly959=)
|
rs550033843
|
0.00012
|
|
NM_032578.4(MYPN):c.3934C>T (p.Arg1312Trp)
|
rs142354704
|
0.00012
|
|
NM_145046.5(CALR3):c.780G>A (p.Pro260=)
|
rs775009764
|
0.00012
|
|
NM_182914.3(SYNE2):c.14019+7A>C
|
rs193073523
|
0.00012
|
|
NM_182914.3(SYNE2):c.15414G>A (p.Thr5138=)
|
rs368919032
|
0.00012
|
|
NM_182914.3(SYNE2):c.1706T>C (p.Met569Thr)
|
rs530677710
|
0.00012
|
|
NM_182914.3(SYNE2):c.20469+7A>G
|
rs370305948
|
0.00012
|
|
NM_182961.4(SYNE1):c.14055G>A (p.Gln4685=)
|
rs370890411
|
0.00012
|
|
NM_182961.4(SYNE1):c.15816G>T (p.Arg5272=)
|
rs762050069
|
0.00012
|
|
NM_182961.4(SYNE1):c.1632+11C>T
|
rs371323621
|
0.00012
|
|
NM_182961.4(SYNE1):c.16901T>C (p.Met5634Thr)
|
rs138509817
|
0.00012
|
|
NM_182961.4(SYNE1):c.21523-18G>T
|
rs191367384
|
0.00012
|
|
NM_182961.4(SYNE1):c.23757G>A (p.Ser7919=)
|
rs377113267
|
0.00012
|
|
NM_182961.4(SYNE1):c.4008+15T>C
|
rs368542446
|
0.00012
|
|
NM_182961.4(SYNE1):c.9891G>A (p.Thr3297=)
|
rs200222988
|
0.00012
|
|
NM_000018.4(ACADVL):c.1239A>G (p.Ile413Met)
|
rs143172658
|
0.00011
|
|
NM_000117.3(EMD):c.598T>C (p.Trp200Arg)
|
rs374981936
|
0.00011
|
|
NM_000152.5(GAA):c.1872C>T (p.Leu624=)
|
rs373103422
|
0.00011
|
|
NM_000152.5(GAA):c.546+4G>C
|
rs550618589
|
0.00011
|
|
NM_000182.5(HADHA):c.872G>A (p.Arg291Gln)
|
rs143414408
|
0.00011
|
|
NM_000231.3(SGCG):c.102C>T (p.Arg34=)
|
rs140810408
|
0.00011
|
|
NM_000232.5(SGCB):c.33+10T>C
|
rs1040348203
|
0.00011
|
|
NM_000257.4(MYH7):c.5139G>A (p.Val1713=)
|
rs369562442
|
0.00011
|
|
NM_000257.4(MYH7):c.5656-4G>A
|
rs397516250
|
0.00011
|
|
NM_001018005.2(TPM1):c.726G>A (p.Ala242=)
|
rs200484871
|
0.00011
|
|
NM_001035.3(RYR2):c.10221G>A (p.Ser3407=)
|
rs373769240
|
0.00011
|
|
NM_001035.3(RYR2):c.10700G>A (p.Arg3567His)
|
rs577371071
|
0.00011
|
|
NM_001035.3(RYR2):c.14808+3A>G
|
rs377491955
|
0.00011
|
|
NM_001035.3(RYR2):c.402C>T (p.Ser134=)
|
rs776832019
|
0.00011
|
|
NM_001035.3(RYR2):c.4096A>G (p.Thr1366Ala)
|
rs369982130
|
0.00011
|
|
NM_001035.3(RYR2):c.7099G>A (p.Gly2367Arg)
|
rs369152386
|
0.00011
|
|
NM_001035.3(RYR2):c.8208+15A>G
|
rs142975943
|
0.00011
|
|
NM_001035.3(RYR2):c.8419A>G (p.Ile2807Val)
|
rs1394059438
|
0.00011
|
|
NM_001035.3(RYR2):c.9655G>A (p.Val3219Met)
|
rs371147744
|
0.00011
|
|
NM_001103.4(ACTN2):c.1714C>T (p.Arg572Trp)
|
rs142142718
|
0.00011
|
|
NM_001103.4(ACTN2):c.1974+10C>T
|
rs368354944
|
0.00011
|
|
NM_001105206.3(LAMA4):c.2718C>T (p.Tyr906=)
|
rs530825191
|
0.00011
|
|
NM_001130965.3(SUN1):c.1230G>A (p.Ser410=)
|
rs377176751
|
0.00011
|
|
NM_001130965.3(SUN1):c.1647G>A (p.Thr549=)
|
rs369056112
|
0.00011
|
|
NM_001130965.3(SUN1):c.478+15C>T
|
rs199865981
|
0.00011
|
|
NM_001134363.3(RBM20):c.1275+8G>T
|
rs727505318
|
0.00011
|
|
NM_001134363.3(RBM20):c.544C>A (p.Pro182Thr)
|
rs397516622
|
0.00011
|
|
NM_001232.4(CASQ2):c.540G>A (p.Lys180=)
|
rs72554057
|
0.00011
|
|
NM_001267550.2(TTN):c.100226G>A (p.Cys33409Tyr)
|
rs201112096
|
0.00011
|
|
NM_001267550.2(TTN):c.106121T>A (p.Phe35374Tyr)
|
rs727504609
|
0.00011
|
|
NM_001267550.2(TTN):c.1399-13C>T
|
rs377240802
|
0.00011
|
|
NM_001267550.2(TTN):c.1449C>T (p.Ala483=)
|
rs141617218
|
0.00011
|
|
NM_001267550.2(TTN):c.15775+14C>T
|
rs151057960
|
0.00011
|
|
NM_001267550.2(TTN):c.16551G>A (p.Ser5517=)
|
rs376037792
|
0.00011
|
|
NM_001267550.2(TTN):c.16716A>G (p.Pro5572=)
|
rs367821526
|
0.00011
|
|
NM_001267550.2(TTN):c.17478C>T (p.Thr5826=)
|
rs376968974
|
0.00011
|
|
NM_001267550.2(TTN):c.19715-4A>G
|
rs375009631
|
0.00011
|
|
NM_001267550.2(TTN):c.25063+18C>T
|
rs541890371
|
0.00011
|
|
NM_001267550.2(TTN):c.25065G>A (p.Ala8355=)
|
rs397517514
|
0.00011
|
|
NM_001267550.2(TTN):c.2775+18C>T
|
rs372384261
|
0.00011
|
|
NM_001267550.2(TTN):c.27915A>G (p.Arg9305=)
|
rs367900368
|
0.00011
|
|
NM_001267550.2(TTN):c.33561G>T (p.Val11187=)
|
rs763629416
|
0.00011
|
|
NM_001267550.2(TTN):c.34379-15A>G
|
rs764544769
|
0.00011
|
|
NM_001267550.2(TTN):c.35037G>A (p.Pro11679=)
|
rs369095270
|
0.00011
|
|
NM_001267550.2(TTN):c.36281-12A>G
|
rs571414483
|
0.00011
|
|
NM_001267550.2(TTN):c.36810A>G (p.Glu12270=)
|
rs900028908
|
0.00011
|
|
NM_001267550.2(TTN):c.37369+8C>A
|
rs1489244862
|
0.00011
|
|
NM_001267550.2(TTN):c.45617-13C>T
|
rs570853409
|
0.00011
|
|
NM_001267550.2(TTN):c.4668G>A (p.Pro1556=)
|
rs145709534
|
0.00011
|
|
NM_001267550.2(TTN):c.48353A>G (p.Asp16118Gly)
|
rs376273101
|
0.00011
|
|
NM_001267550.2(TTN):c.50157T>C (p.Ser16719=)
|
rs566449160
|
0.00011
|
|
NM_001267550.2(TTN):c.51437-9G>A
|
rs183060991
|
0.00011
|
|
NM_001267550.2(TTN):c.54078A>T (p.Ala18026=)
|
rs747908048
|
0.00011
|
|
NM_001267550.2(TTN):c.56034T>C (p.Thr18678=)
|
rs374547166
|
0.00011
|
|
NM_001267550.2(TTN):c.57073G>A (p.Val19025Ile)
|
rs181957743
|
0.00011
|
|
NM_001267550.2(TTN):c.65388T>G (p.Ala21796=)
|
rs369091096
|
0.00011
|
|
NM_001267550.2(TTN):c.66051G>A (p.Val22017=)
|
rs587780981
|
0.00011
|
|
NM_001267550.2(TTN):c.68211G>A (p.Ala22737=)
|
rs536824562
|
0.00011
|
|
NM_001267550.2(TTN):c.70651C>T (p.Leu23551=)
|
rs72646889
|
0.00011
|
|
NM_001267550.2(TTN):c.73770T>C (p.Tyr24590=)
|
rs201380749
|
0.00011
|
|
NM_001267550.2(TTN):c.76673A>T (p.Asp25558Val)
|
rs201095164
|
0.00011
|
|
NM_001267550.2(TTN):c.78063C>T (p.Pro26021=)
|
rs72648204
|
0.00011
|
|
NM_001267550.2(TTN):c.8116+15A>C
|
rs757445533
|
0.00011
|
|
NM_001267550.2(TTN):c.93255G>A (p.Pro31085=)
|
rs372611171
|
0.00011
|
|
NM_001267550.2(TTN):c.94593G>A (p.Ala31531=)
|
rs373301015
|
0.00011
|
|
NM_001267550.2(TTN):c.94980A>G (p.Glu31660=)
|
rs370769662
|
0.00011
|
|
NM_001267550.2(TTN):c.95196G>A (p.Pro31732=)
|
rs752309744
|
0.00011
|
|
NM_001267550.2(TTN):c.95991C>T (p.Ser31997=)
|
rs375176758
|
0.00011
|
|
NM_001267550.2(TTN):c.97193-16T>G
|
rs371317486
|
0.00011
|
|
NM_001267550.2(TTN):c.98556T>C (p.Gly32852=)
|
rs373853269
|
0.00011
|
|
NM_001267550.2(TTN):c.98809A>G (p.Lys32937Glu)
|
rs200544701
|
0.00011
|
|
NM_001267550.2(TTN):c.99946G>A (p.Ala33316Thr)
|
rs374295768
|
0.00011
|
|
NM_001276345.2(TNNT2):c.852-19C>T
|
rs759855940
|
0.00011
|
|
NM_001347702.2(SYNE1):c.1464T>G (p.Pro488=)
|
rs770649913
|
0.00011
|
|
NM_001458.5(FLNC):c.1094A>G (p.Glu365Gly)
|
rs752027721
|
0.00011
|
|
NM_001458.5(FLNC):c.3853G>A (p.Gly1285Ser)
|
rs200928780
|
0.00011
|
|
NM_001458.5(FLNC):c.3960G>A (p.Glu1320=)
|
rs200717144
|
0.00011
|
|
NM_001458.5(FLNC):c.5500C>T (p.His1834Tyr)
|
rs377141822
|
0.00011
|
|
NM_001458.5(FLNC):c.6387C>T (p.Thr2129=)
|
rs200182180
|
0.00011
|
|
NM_001927.4(DES):c.897+16C>T
|
rs370385097
|
0.00011
|
|
NM_001943.5(DSG2):c.1299T>C (p.Asp433=)
|
rs367548984
|
0.00011
|
|
NM_002230.4(JUP):c.1159-20G>A
|
rs782463183
|
0.00011
|
|
NM_002230.4(JUP):c.1989C>T (p.Arg663=)
|
rs145175985
|
0.00011
|
|
NM_002471.4(MYH6):c.1410C>T (p.Asp470=)
|
rs139886074
|
0.00011
|
|
NM_002471.4(MYH6):c.1599C>T (p.Ser533=)
|
rs371263768
|
0.00011
|
|
NM_002471.4(MYH6):c.2097C>T (p.Gly699=)
|
rs149734381
|
0.00011
|
|
NM_002471.4(MYH6):c.2464G>A (p.Ala822Thr)
|
rs138419275
|
0.00011
|
|
NM_002471.4(MYH6):c.2574C>T (p.Phe858=)
|
rs148596692
|
0.00011
|
|
NM_002471.4(MYH6):c.2805C>T (p.Asn935=)
|
rs757958461
|
0.00011
|
|
NM_002471.4(MYH6):c.2973C>T (p.Ile991=)
|
rs374807345
|
0.00011
|
|
NM_002471.4(MYH6):c.3540G>A (p.Leu1180=)
|
rs778853343
|
0.00011
|
|
NM_002471.4(MYH6):c.4122G>A (p.Arg1374=)
|
rs781616503
|
0.00011
|
|
NM_002471.4(MYH6):c.5662-6C>T
|
rs183733802
|
0.00011
|
|
NM_002471.4(MYH6):c.642+17A>G
|
rs1458453275
|
0.00011
|
|
NM_002471.4(MYH6):c.678C>T (p.Pro226=)
|
rs768893926
|
0.00011
|
|
NM_002633.3(PGM1):c.1028+11C>A
|
rs541069522
|
0.00011
|
|
NM_003803.4(MYOM1):c.1797C>T (p.Ser599=)
|
rs370022510
|
0.00011
|
|
NM_003803.4(MYOM1):c.4137+16A>T
|
rs533330335
|
0.00011
|
|
NM_003803.4(MYOM1):c.4251+7G>A
|
rs377515296
|
0.00011
|
|
NM_003803.4(MYOM1):c.4792G>A (p.Gly1598Arg)
|
rs764839969
|
0.00011
|
|
NM_004100.5(EYA4):c.1422G>A (p.Gly474=)
|
rs138141986
|
0.00011
|
|
NM_004281.4(BAG3):c.415C>T (p.Arg139Trp)
|
rs556465096
|
0.00011
|
|
NM_004281.4(BAG3):c.909+16C>T
|
rs538411146
|
0.00011
|
|
NM_004415.4(DSP):c.1483G>A (p.Val495Met)
|
rs372014020
|
0.00011
|
|
NM_004415.4(DSP):c.237C>T (p.Ser79=)
|
rs146521568
|
0.00011
|
|
NM_004415.4(DSP):c.3646A>G (p.Ile1216Val)
|
rs199795359
|
0.00011
|
|
NM_004415.4(DSP):c.5744G>A (p.Arg1915His)
|
rs146617683
|
0.00011
|
|
NM_004415.4(DSP):c.6360C>T (p.Thr2120=)
|
rs374252141
|
0.00011
|
|
NM_004415.4(DSP):c.6753G>A (p.Lys2251=)
|
rs750294829
|
0.00011
|
|
NM_004415.4(DSP):c.816G>A (p.Leu272=)
|
rs376184294
|
0.00011
|
|
NM_005343.4(HRAS):c.330C>T (p.Pro110=)
|
rs200747280
|
0.00011
|
|
NM_006073.4(TRDN):c.129G>A (p.Thr43=)
|
rs373840513
|
0.00011
|
|
NM_006073.4(TRDN):c.23-19T>G
|
rs370102595
|
0.00011
|
|
NM_006073.4(TRDN):c.510A>G (p.Gly170=)
|
rs773658957
|
0.00011
|
|
NM_006270.5(RRAS):c.81C>T (p.Ser27=)
|
rs375821724
|
0.00011
|
|
NM_006393.3(NEBL):c.2650C>T (p.His884Tyr)
|
rs191259903
|
0.00011
|
|
NM_006440.5(TXNRD2):c.543C>T (p.Ala181=)
|
rs367754522
|
0.00011
|
|
NM_012082.4(ZFPM2):c.1005A>G (p.Leu335=)
|
rs1034200170
|
0.00011
|
|
NM_013266.4(CTNNA3):c.1692G>A (p.Thr564=)
|
rs138798862
|
0.00011
|
|
NM_013266.4(CTNNA3):c.1732+8A>G
|
rs372686443
|
0.00011
|
|
NM_014000.3(VCL):c.2655C>T (p.Phe885=)
|
rs149196315
|
0.00011
|
|
NM_015374.3(SUN2):c.520+8G>A
|
rs201387591
|
0.00011
|
|
NM_016203.4(PRKAG2):c.1234-17G>A
|
rs587781127
|
0.00011
|
|
NM_020297.4(ABCC9):c.3288T>C (p.Phe1096=)
|
rs377372612
|
0.00011
|
|
NM_020433.5(JPH2):c.1581C>G (p.Ser527=)
|
rs752533344
|
0.00011
|
|
NM_022114.4(PRDM16):c.1545G>A (p.Pro515=)
|
rs34992735
|
0.00011
|
|
NM_022114.4(PRDM16):c.1709C>T (p.Thr570Met)
|
rs138655327
|
0.00011
|
|
NM_022114.4(PRDM16):c.1719G>A (p.Ala573=)
|
rs374254884
|
0.00011
|
|
NM_022114.4(PRDM16):c.3453C>T (p.Ala1151=)
|
rs966858972
|
0.00011
|
|
NM_022114.4(PRDM16):c.42C>T (p.Asp14=)
|
rs540560495
|
0.00011
|
|
NM_024334.3(TMEM43):c.429G>A (p.Thr143=)
|
rs201217046
|
0.00011
|
|
NM_024422.6(DSC2):c.1070G>A (p.Arg357His)
|
rs201201194
|
0.00011
|
|
NM_024422.6(DSC2):c.630+8C>T
|
rs201147144
|
0.00011
|
|
NM_032578.4(MYPN):c.2742T>C (p.Asn914=)
|
rs372375235
|
0.00011
|
|
NM_032578.4(MYPN):c.3504G>A (p.Val1168=)
|
rs755327022
|
0.00011
|
|
NM_032578.4(MYPN):c.395C>T (p.Pro132Leu)
|
rs201203517
|
0.00011
|
|
NM_033118.4(MYLK2):c.281C>T (p.Pro94Leu)
|
rs201134349
|
0.00011
|
|
NM_033118.4(MYLK2):c.828C>T (p.Thr276=)
|
rs370429139
|
0.00011
|
|
NM_144573.4(NEXN):c.1582G>C (p.Glu528Gln)
|
rs200071700
|
0.00011
|
|
NM_144573.4(NEXN):c.688-10G>A
|
rs370574269
|
0.00011
|
|
NM_145046.5(CALR3):c.378G>A (p.Ser126=)
|
rs374869347
|
0.00011
|
|
NM_145046.5(CALR3):c.787-11T>G
|
rs199588341
|
0.00011
|
|
NM_152594.3(SPRED1):c.963G>A (p.Lys321=)
|
rs369711772
|
0.00011
|
|
NM_181703.4(GJA5):c.973A>C (p.Asn325His)
|
rs782592443
|
0.00011
|
|
NM_182914.3(SYNE2):c.11586A>G (p.Gln3862=)
|
rs761417555
|
0.00011
|
|
NM_182914.3(SYNE2):c.12056T>G (p.Phe4019Cys)
|
rs150105416
|
0.00011
|
|
NM_182914.3(SYNE2):c.13023+8A>G
|
rs372360775
|
0.00011
|
|
NM_182914.3(SYNE2):c.16985C>T (p.Thr5662Ile)
|
rs201850995
|
0.00011
|
|
NM_182914.3(SYNE2):c.5689G>A (p.Val1897Ile)
|
rs773841153
|
0.00011
|
|
NM_182914.3(SYNE2):c.6772G>A (p.Val2258Ile)
|
rs200336916
|
0.00011
|
|
NM_182961.4(SYNE1):c.10105A>G (p.Met3369Val)
|
rs199668467
|
0.00011
|
|
NM_182961.4(SYNE1):c.13724G>T (p.Cys4575Phe)
|
rs199701902
|
0.00011
|
|
NM_182961.4(SYNE1):c.13800A>G (p.Thr4600=)
|
rs184264920
|
0.00011
|
|
NM_182961.4(SYNE1):c.17203-6T>C
|
rs1589744380
|
0.00011
|
|
NM_182961.4(SYNE1):c.25086G>A (p.Thr8362=)
|
rs377302991
|
0.00011
|
|
NM_182961.4(SYNE1):c.5850C>A (p.Ala1950=)
|
rs373129942
|
0.00011
|
|
NM_182961.4(SYNE1):c.8005-3C>T
|
rs117084693
|
0.00011
|
|
NM_182961.4(SYNE1):c.8557A>G (p.Thr2853Ala)
|
rs77853132
|
0.00011
|
|
NM_182961.4(SYNE1):c.9009+14C>T
|
rs370240234
|
0.00011
|
|
NM_182961.4(SYNE1):c.9696G>A (p.Arg3232=)
|
rs377001681
|
0.00011
|
|
NM_182961.4(SYNE1):c.9855C>T (p.Phe3285=)
|
rs776394371
|
0.00011
|
|
NM_000018.4(ACADVL):c.495G>A (p.Glu165=)
|
rs370169077
|
0.00010
|
|
NM_000018.4(ACADVL):c.62+9G>A
|
rs369512281
|
0.00010
|
|
NM_000023.4(SGCA):c.320C>T (p.Ala107Val)
|
rs186669379
|
0.00010
|
|
NM_000023.4(SGCA):c.816C>G (p.Asp272Glu)
|
rs530646204
|
0.00010
|
|
NM_000152.5(GAA):c.1637-12C>T
|
rs374923144
|
0.00010
|
|
NM_000152.5(GAA):c.1920T>G (p.Pro640=)
|
rs144090460
|
0.00010
|
|
NM_000152.5(GAA):c.2319C>T (p.Tyr773=)
|
rs377402848
|
0.00010
|
|
NM_000152.5(GAA):c.2482-18G>A
|
rs757911622
|
0.00010
|
|
NM_000152.5(GAA):c.610G>A (p.Ala204Thr)
|
rs780799275
|
0.00010
|
|
NM_000182.5(HADHA):c.810G>A (p.Ala270=)
|
rs376632479
|
0.00010
|
|
NM_000256.3(MYBPC3):c.1989T>A (p.Ala663=)
|
rs375467797
|
0.00010
|
|
NM_000256.3(MYBPC3):c.402C>T (p.Pro134=)
|
rs397516046
|
0.00010
|
|
NM_000256.3(MYBPC3):c.450C>T (p.Pro150=)
|
rs377520770
|
0.00010
|
|
NM_000256.3(MYBPC3):c.684T>G (p.Asp228Glu)
|
rs532498780
|
0.00010
|
|
NM_000256.3(MYBPC3):c.999C>T (p.Tyr333=)
|
rs367947846
|
0.00010
|
|
NM_000257.4(MYH7):c.1191G>A (p.Lys397=)
|
rs139506719
|
0.00010
|
|
NM_000257.4(MYH7):c.2184G>A (p.Ala728=)
|
rs148650290
|
0.00010
|
|
NM_000432.4(MYL2):c.274+9G>A
|
rs371405579
|
0.00010
|
|
NM_001005242.3(PKP2):c.45C>T (p.Thr15=)
|
rs759214983
|
0.00010
|
|
NM_001005242.3(PKP2):c.826C>T (p.Pro276Ser)
|
rs201944276
|
0.00010
|
|
NM_001018005.2(TPM1):c.522C>T (p.Ser174=)
|
rs200173919
|
0.00010
|
|
NM_001035.3(RYR2):c.12114T>C (p.Asp4038=)
|
rs368103385
|
0.00010
|
|
NM_001035.3(RYR2):c.13267A>C (p.Lys4423Gln)
|
rs376908332
|
0.00010
|
|
NM_001035.3(RYR2):c.13957-5C>G
|
rs189772599
|
0.00010
|
|
NM_001035.3(RYR2):c.3883A>G (p.Ser1295Gly)
|
rs200574919
|
0.00010
|
|
NM_001035.3(RYR2):c.4094C>T (p.Ala1365Val)
|
rs373261115
|
0.00010
|
|
NM_001035.3(RYR2):c.5571G>A (p.Pro1857=)
|
rs371934582
|
0.00010
|
|
NM_001035.3(RYR2):c.9067+10C>T
|
rs372631657
|
0.00010
|
|
NM_001035.3(RYR2):c.9068-20G>T
|
rs766109127
|
0.00010
|
|
NM_001035.3(RYR2):c.9368-12C>T
|
rs559526695
|
0.00010
|
|
NM_001103.4(ACTN2):c.2148G>A (p.Thr716=)
|
rs191631773
|
0.00010
|
|
NM_001103.4(ACTN2):c.690T>A (p.Asp230Glu)
|
rs139489232
|
0.00010
|
|
NM_001105206.3(LAMA4):c.1821G>A (p.Lys607=)
|
rs374481199
|
0.00010
|
|
NM_001105206.3(LAMA4):c.3819C>T (p.Phe1273=)
|
rs138232283
|
0.00010
|
|
NM_001122630.2(CDKN1C):c.417A>T (p.Pro139=)
|
rs1486402339
|
0.00010
|
|
NM_001130965.3(SUN1):c.1221G>A (p.Pro407=)
|
rs373057888
|
0.00010
|
|
NM_001130965.3(SUN1):c.227G>C (p.Gly76Ala)
|
rs149038179
|
0.00010
|
|
NM_001130965.3(SUN1):c.267-17T>G
|
rs527315917
|
0.00010
|
|
NM_001134363.3(RBM20):c.1418C>T (p.Ala473Val)
|
rs727503387
|
0.00010
|
|
NM_001134363.3(RBM20):c.2761A>G (p.Ile921Val)
|
rs397516608
|
0.00010
|
|
NM_001134363.3(RBM20):c.2953C>T (p.Pro985Ser)
|
rs555981231
|
0.00010
|
|
NM_001159699.2(FHL1):c.380-7T>C
|
rs759571993
|
0.00010
|
|
NM_001159699.2(FHL1):c.737-11_737-8del
|
rs754404850
|
0.00010
|
|
NM_001161403.3(LIMS2):c.359+11C>T
|
rs140921135
|
0.00010
|
|
NM_001267550.2(TTN):c.104202A>G (p.Pro34734=)
|
rs777542393
|
0.00010
|
|
NM_001267550.2(TTN):c.105876G>A (p.Leu35292=)
|
rs372521529
|
0.00010
|
|
NM_001267550.2(TTN):c.12957G>A (p.Ala4319=)
|
rs762330685
|
0.00010
|
|
NM_001267550.2(TTN):c.13479T>G (p.Pro4493=)
|
rs368698752
|
0.00010
|
|
NM_001267550.2(TTN):c.1815T>C (p.Thr605=)
|
rs757604614
|
0.00010
|
|
NM_001267550.2(TTN):c.2151C>T (p.Pro717=)
|
rs374570732
|
0.00010
|
|
NM_001267550.2(TTN):c.22545C>G (p.Pro7515=)
|
rs373496180
|
0.00010
|
|
NM_001267550.2(TTN):c.26928G>A (p.Leu8976=)
|
rs370973715
|
0.00010
|
|
NM_001267550.2(TTN):c.29566C>T (p.Leu9856=)
|
rs371542947
|
0.00010
|
|
NM_001267550.2(TTN):c.3864T>G (p.Ala1288=)
|
rs368702156
|
0.00010
|
|
NM_001267550.2(TTN):c.39211+8C>T
|
rs778828307
|
0.00010
|
|
NM_001267550.2(TTN):c.39606A>G (p.Pro13202=)
|
rs372356060
|
0.00010
|
|
NM_001267550.2(TTN):c.40250C>T (p.Pro13417Leu)
|
rs537578226
|
0.00010
|
|
NM_001267550.2(TTN):c.49278T>C (p.Ala16426=)
|
rs372633280
|
0.00010
|
|
NM_001267550.2(TTN):c.53958C>T (p.Ile17986=)
|
rs192319879
|
0.00010
|
|
NM_001267550.2(TTN):c.56051-12T>A
|
rs147192175
|
0.00010
|
|
NM_001267550.2(TTN):c.59736T>C (p.Tyr19912=)
|
rs184969946
|
0.00010
|
|
NM_001267550.2(TTN):c.63960T>A (p.Val21320=)
|
rs397517655
|
0.00010
|
|
NM_001267550.2(TTN):c.66123A>G (p.Pro22041=)
|
rs727504190
|
0.00010
|
|
NM_001267550.2(TTN):c.72302C>A (p.Thr24101Asn)
|
rs192962624
|
0.00010
|
|
NM_001267550.2(TTN):c.73783G>A (p.Ala24595Thr)
|
rs543275318
|
0.00010
|
|
NM_001267550.2(TTN):c.76047T>C (p.Ile25349=)
|
rs369320393
|
0.00010
|
|
NM_001267550.2(TTN):c.77706C>T (p.Asp25902=)
|
rs375764395
|
0.00010
|
|
NM_001267550.2(TTN):c.7881A>G (p.Thr2627=)
|
rs73973146
|
0.00010
|
|
NM_001267550.2(TTN):c.80983G>A (p.Glu26995Lys)
|
rs397517719
|
0.00010
|
|
NM_001267550.2(TTN):c.84448T>C (p.Tyr28150His)
|
rs397517727
|
0.00010
|
|
NM_001267550.2(TTN):c.92595A>G (p.Leu30865=)
|
rs192086736
|
0.00010
|
|
NM_001267550.2(TTN):c.93981C>G (p.Val31327=)
|
rs370894846
|
0.00010
|
|
NM_001276345.2(TNNT2):c.852-23A>G
|
rs371692788
|
0.00010
|
|
NM_001458.5(FLNC):c.1102G>A (p.Val368Met)
|
rs781718076
|
0.00010
|
|
NM_001458.5(FLNC):c.31G>A (p.Gly11Ser)
|
rs370512642
|
0.00010
|
|
NM_001458.5(FLNC):c.4921G>A (p.Val1641Ile)
|
rs575068215
|
0.00010
|
|
NM_001458.5(FLNC):c.4952-9G>T
|
rs747821376
|
0.00010
|
|
NM_001458.5(FLNC):c.5445C>T (p.Thr1815=)
|
rs758995789
|
0.00010
|
|
NM_001458.5(FLNC):c.5760G>A (p.Pro1920=)
|
rs375912712
|
0.00010
|
|
NM_001458.5(FLNC):c.7289C>T (p.Ala2430Val)
|
rs200516164
|
0.00010
|
|
NM_001458.5(FLNC):c.7384+5G>A
|
rs766570592
|
0.00010
|
|
NM_001458.5(FLNC):c.7785G>A (p.Pro2595=)
|
rs780670412
|
0.00010
|
|
NM_001943.5(DSG2):c.1597G>A (p.Val533Ile)
|
rs199761749
|
0.00010
|
|
NM_001943.5(DSG2):c.523+20T>C
|
rs775127367
|
0.00010
|
|
NM_002230.4(JUP):c.1654-7C>T
|
rs1395283149
|
0.00010
|
|
NM_002230.4(JUP):c.707+20G>A
|
rs782523305
|
0.00010
|
|
NM_002471.4(MYH6):c.1662C>T (p.Tyr554=)
|
rs374114140
|
0.00010
|
|
NM_002471.4(MYH6):c.420C>T (p.Ala140=)
|
rs145023897
|
0.00010
|
|
NM_002471.4(MYH6):c.5514G>T (p.Ser1838=)
|
rs727503232
|
0.00010
|
|
NM_002633.3(PGM1):c.1101C>T (p.Asp367=)
|
rs375432694
|
0.00010
|
|
NM_002633.3(PGM1):c.1107C>A (p.Ser369Arg)
|
rs200407907
|
0.00010
|
|
NM_002633.3(PGM1):c.294T>A (p.Ala98=)
|
rs777459281
|
0.00010
|
|
NM_002633.3(PGM1):c.963G>A (p.Pro321=)
|
rs373693932
|
0.00010
|
|
NM_003280.3(TNNC1):c.210C>T (p.Gly70=)
|
rs141505676
|
0.00010
|
|
NM_003280.3(TNNC1):c.393C>T (p.Asp131=)
|
rs147821122
|
0.00010
|
|
NM_003803.4(MYOM1):c.2580C>T (p.Arg860=)
|
rs532443888
|
0.00010
|
|
NM_004415.4(DSP):c.1140+6T>C
|
rs534740669
|
0.00010
|
|
NM_004415.4(DSP):c.3146C>T (p.Ser1049Leu)
|
rs751361395
|
0.00010
|
|
NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile)
|
rs151115778
|
0.00010
|
|
NM_004415.4(DSP):c.3922C>T (p.Arg1308Trp)
|
rs144641271
|
0.00010
|
|
NM_004415.4(DSP):c.4780C>T (p.Leu1594=)
|
rs149463707
|
0.00010
|
|
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu)
|
rs149513743
|
0.00010
|
|
NM_004415.4(DSP):c.8493G>C (p.Ser2831=)
|
rs397516969
|
0.00010
|
|
NM_004415.4(DSP):c.987G>A (p.Leu329=)
|
rs564435126
|
0.00010
|
|
NM_005159.5(ACTC1):c.84G>T (p.Ala28=)
|
rs1008290796
|
0.00010
|
|
NM_005343.4(HRAS):c.177C>T (p.Ala59=)
|
rs730880456
|
0.00010
|
|
NM_006284.4(TAF10):c.*1865C>T
|
rs377346771
|
0.00010
|
|
NM_006440.5(TXNRD2):c.801C>T (p.His267=)
|
rs550803593
|
0.00010
|
|
NM_006939.4(SOS2):c.3088A>G (p.Thr1030Ala)
|
rs550680554
|
0.00010
|
|
NM_006939.4(SOS2):c.3289T>C (p.Ser1097Pro)
|
rs141214900
|
0.00010
|
|
NM_013266.4(CTNNA3):c.1850T>C (p.Ile617Thr)
|
rs190239785
|
0.00010
|
|
NM_014000.3(VCL):c.169-10C>G
|
rs778769534
|
0.00010
|
|
NM_015374.3(SUN2):c.672G>A (p.Thr224=)
|
rs767229084
|
0.00010
|
|
NM_016203.4(PRKAG2):c.425C>T (p.Thr142Ile)
|
rs397517270
|
0.00010
|
|
NM_020297.4(ABCC9):c.846T>G (p.Thr282=)
|
rs747683989
|
0.00010
|
|
NM_020297.4(ABCC9):c.852T>A (p.Ser284=)
|
rs113562970
|
0.00010
|
|
NM_022114.4(PRDM16):c.1953C>A (p.Gly651=)
|
rs780589589
|
0.00010
|
|
NM_022114.4(PRDM16):c.2223G>A (p.Thr741=)
|
rs756779855
|
0.00010
|
|
NM_022114.4(PRDM16):c.615G>A (p.Glu205=)
|
rs370059347
|
0.00010
|
|
NM_022114.4(PRDM16):c.714C>A (p.Leu238=)
|
rs371540074
|
0.00010
|
|
NM_024334.3(TMEM43):c.169G>A (p.Ala57Thr)
|
rs151010429
|
0.00010
|
|
NM_024422.6(DSC2):c.2314G>A (p.Val772Met)
|
rs146029947
|
0.00010
|
|
NM_033118.4(MYLK2):c.1590C>T (p.Asn530=)
|
rs374233822
|
0.00010
|
|
NM_152594.3(SPRED1):c.177T>C (p.Phe59=)
|
rs397517871
|
0.00010
|
|
NM_182914.3(SYNE2):c.1359T>C (p.Asn453=)
|
rs377273531
|
0.00010
|
|
NM_182914.3(SYNE2):c.14388C>T (p.Tyr4796=)
|
rs767447208
|
0.00010
|
|
NM_182914.3(SYNE2):c.14544A>G (p.Ala4848=)
|
rs150819349
|
0.00010
|
|
NM_182914.3(SYNE2):c.16410C>G (p.Gly5470=)
|
rs200393620
|
0.00010
|
|
NM_182914.3(SYNE2):c.17209A>C (p.Thr5737Pro)
|
rs576835974
|
0.00010
|
|
NM_182914.3(SYNE2):c.20240A>C (p.Gln6747Pro)
|
rs147470935
|
0.00010
|
|
NM_182914.3(SYNE2):c.5020T>C (p.Leu1674=)
|
rs201666704
|
0.00010
|
|
NM_182914.3(SYNE2):c.6404+7G>C
|
rs369461571
|
0.00010
|
|
NM_182914.3(SYNE2):c.7144G>A (p.Ala2382Thr)
|
rs774232167
|
0.00010
|
|
NM_182914.3(SYNE2):c.9745-9A>G
|
rs778028287
|
0.00010
|
|
NM_182961.4(SYNE1):c.10761C>T (p.Ser3587=)
|
rs201715967
|
0.00010
|
|
NM_182961.4(SYNE1):c.11088A>G (p.Gln3696=)
|
rs375949615
|
0.00010
|
|
NM_182961.4(SYNE1):c.14380C>T (p.Leu4794=)
|
rs138307449
|
0.00010
|
|
NM_182961.4(SYNE1):c.14956-14T>C
|
rs368344443
|
0.00010
|
|
NM_182961.4(SYNE1):c.15894C>T (p.Thr5298=)
|
rs143416387
|
0.00010
|
|
NM_182961.4(SYNE1):c.17052G>A (p.Pro5684=)
|
rs148994723
|
0.00010
|
|
NM_182961.4(SYNE1):c.17175C>T (p.Thr5725=)
|
rs200002217
|
0.00010
|
|
NM_182961.4(SYNE1):c.20068-15A>C
|
rs368904376
|
0.00010
|
|
NM_182961.4(SYNE1):c.21924G>A (p.Glu7308=)
|
rs371017408
|
0.00010
|
|
NM_182961.4(SYNE1):c.23791-7C>T
|
rs375558499
|
0.00010
|
|
NM_182961.4(SYNE1):c.7767C>T (p.His2589=)
|
rs149165706
|
0.00010
|
|
NM_182961.4(SYNE1):c.8360C>T (p.Thr2787Met)
|
rs142676206
|
0.00010
|
|
NM_182961.4(SYNE1):c.9897G>T (p.Ala3299=)
|
rs184006845
|
0.00010
|
|
NM_000018.4(ACADVL):c.114G>C (p.Arg38=)
|
rs777380964
|
0.00009
|
|
NM_000023.4(SGCA):c.764C>T (p.Pro255Leu)
|
rs138019537
|
0.00009
|
|
NM_000117.3(EMD):c.188-18C>G
|
rs376439797
|
0.00009
|
|
NM_000117.3(EMD):c.450-12C>T
|
rs1185461600
|
0.00009
|
|
NM_000117.3(EMD):c.470G>A (p.Arg157Gln)
|
rs148515772
|
0.00009
|
|
NM_000152.5(GAA):c.1076-16C>T
|
rs367704731
|
0.00009
|
|
NM_000152.5(GAA):c.1302C>T (p.Gly434=)
|
rs752231775
|
0.00009
|
|
NM_000152.5(GAA):c.1482A>G (p.Thr494=)
|
rs202064115
|
0.00009
|
|
NM_000152.5(GAA):c.1818C>T (p.His606=)
|
rs374368644
|
0.00009
|
|
NM_000152.5(GAA):c.297C>T (p.Thr99=)
|
rs771846178
|
0.00009
|
|
NM_000152.5(GAA):c.664G>A (p.Val222Met)
|
rs374569672
|
0.00009
|
|
NM_000152.5(GAA):c.711G>A (p.Ala237=)
|
rs368328598
|
0.00009
|
|
NM_000182.5(HADHA):c.1886-16T>C
|
rs376113444
|
0.00009
|
|
NM_000182.5(HADHA):c.2147-8C>G
|
rs368976628
|
0.00009
|
|
NM_000182.5(HADHA):c.918+19T>C
|
rs372010520
|
0.00009
|
|
NM_000231.3(SGCG):c.497G>A (p.Arg166Gln)
|
rs776289036
|
0.00009
|
|
NM_000231.3(SGCG):c.506-7T>G
|
rs774582375
|
0.00009
|
|
NM_000256.3(MYBPC3):c.2838A>G (p.Ala946=)
|
rs376858768
|
0.00009
|
|
NM_000256.3(MYBPC3):c.2961C>T (p.Val987=)
|
rs761700877
|
0.00009
|
|
NM_000256.3(MYBPC3):c.3384G>C (p.Glu1128Asp)
|
rs375116558
|
0.00009
|
|
NM_000256.3(MYBPC3):c.648C>T (p.Ala216=)
|
rs777418402
|
0.00009
|
|
NM_000256.3(MYBPC3):c.851+18C>T
|
rs377287239
|
0.00009
|
|
NM_000257.4(MYH7):c.2091T>C (p.Gly697=)
|
rs140380523
|
0.00009
|
|
NM_000257.4(MYH7):c.2679+7C>T
|
rs368653983
|
0.00009
|
|
NM_000257.4(MYH7):c.3045C>T (p.Asp1015=)
|
rs150607954
|
0.00009
|
|
NM_000257.4(MYH7):c.327C>T (p.Tyr109=)
|
rs36211408
|
0.00009
|
|
NM_000257.4(MYH7):c.3564T>C (p.Thr1188=)
|
rs45587932
|
0.00009
|
|
NM_000257.4(MYH7):c.4354-6G>A
|
rs368078397
|
0.00009
|
|
NM_000257.4(MYH7):c.5361A>G (p.Glu1787=)
|
rs201171029
|
0.00009
|
|
NM_000337.6(SGCD):c.717G>A (p.Ala239=)
|
rs145430692
|
0.00009
|
|
NM_000371.4(TTR):c.354C>T (p.Asn118=)
|
rs11541797
|
0.00009
|
|
NM_000475.5(NR0B1):c.469C>T (p.His157Tyr)
|
rs776059398
|
0.00009
|
|
NM_001005242.3(PKP2):c.1379-2065G>A
|
rs771856087
|
0.00009
|
|
NM_001005242.3(PKP2):c.996G>A (p.Leu332=)
|
rs144574595
|
0.00009
|
|
NM_001018005.2(TPM1):c.563+12C>T
|
rs756230680
|
0.00009
|
|
NM_001035.3(RYR2):c.13069G>A (p.Ala4357Thr)
|
rs747622318
|
0.00009
|
|
NM_001035.3(RYR2):c.14101A>G (p.Ile4701Val)
|
rs755065507
|
0.00009
|
|
NM_001035.3(RYR2):c.3598+13T>C
|
rs145104355
|
0.00009
|
|
NM_001035.3(RYR2):c.4044G>A (p.Lys1348=)
|
rs755391572
|
0.00009
|
|
NM_001035.3(RYR2):c.463+9C>T
|
rs559545973
|
0.00009
|
|
NM_001035.3(RYR2):c.4800C>T (p.Pro1600=)
|
rs546340378
|
0.00009
|
|
NM_001035.3(RYR2):c.5756G>A (p.Arg1919Gln)
|
rs199893812
|
0.00009
|
|
NM_001035.3(RYR2):c.639C>T (p.Ser213=)
|
rs375180398
|
0.00009
|
|
NM_001035.3(RYR2):c.6441-8C>G
|
rs770177812
|
0.00009
|
|
NM_001035.3(RYR2):c.7083T>C (p.Gly2361=)
|
rs749474378
|
0.00009
|
|
NM_001035.3(RYR2):c.7094A>G (p.Asn2365Ser)
|
rs369774984
|
0.00009
|
|
NM_001035.3(RYR2):c.7689A>G (p.Lys2563=)
|
rs201082550
|
0.00009
|
|
NM_001035.3(RYR2):c.9129-9A>G
|
rs992812963
|
0.00009
|
|
NM_001103.4(ACTN2):c.1292C>T (p.Ser431Leu)
|
rs149846886
|
0.00009
|
|
NM_001103.4(ACTN2):c.2540C>T (p.Ala847Val)
|
rs370569935
|
0.00009
|
|
NM_001103.4(ACTN2):c.2659G>A (p.Ala887Thr)
|
rs148972050
|
0.00009
|
|
NM_001105206.3(LAMA4):c.2769C>T (p.Pro923=)
|
rs782151816
|
0.00009
|
|
NM_001105206.3(LAMA4):c.5442C>T (p.Ala1814=)
|
rs200300118
|
0.00009
|
|
NM_001105206.3(LAMA4):c.909T>A (p.Ser303=)
|
rs782217722
|
0.00009
|
|
NM_001122630.2(CDKN1C):c.831G>A (p.Ser277=)
|
rs370564696
|
0.00009
|
|
NM_001122630.2(CDKN1C):c.876C>T (p.Gly292=)
|
rs377216794
|
0.00009
|
|
NM_001134363.3(RBM20):c.2862C>T (p.Asp954=)
|
rs751775695
|
0.00009
|
|
NM_001134363.3(RBM20):c.3451+14A>G
|
rs774391134
|
0.00009
|
|
NM_001134363.3(RBM20):c.3504G>A (p.Leu1168=)
|
rs377742289
|
0.00009
|
|
NM_001161403.3(LIMS2):c.661-15C>T
|
rs574749512
|
0.00009
|
|
NM_001161403.3(LIMS2):c.759C>T (p.Phe253=)
|
rs370106270
|
0.00009
|
|
NM_001267550.2(TTN):c.103992C>G (p.Leu34664=)
|
rs375120372
|
0.00009
|
|
NM_001267550.2(TTN):c.104499G>A (p.Ala34833=)
|
rs375992557
|
0.00009
|
|
NM_001267550.2(TTN):c.1245+20G>T
|
rs371234481
|
0.00009
|
|
NM_001267550.2(TTN):c.13458C>T (p.Asp4486=)
|
rs748885610
|
0.00009
|
|
NM_001267550.2(TTN):c.13689C>T (p.Asp4563=)
|
rs369466156
|
0.00009
|
|
NM_001267550.2(TTN):c.13884C>T (p.Ser4628=)
|
rs183328495
|
0.00009
|
|
NM_001267550.2(TTN):c.14049C>T (p.Ser4683=)
|
rs370208081
|
0.00009
|
|
NM_001267550.2(TTN):c.16057C>A (p.Arg5353=)
|
rs267599069
|
0.00009
|
|
NM_001267550.2(TTN):c.16581C>T (p.Val5527=)
|
rs373179717
|
0.00009
|
|
NM_001267550.2(TTN):c.17184A>G (p.Glu5728=)
|
rs200984007
|
0.00009
|
|
NM_001267550.2(TTN):c.18307+12A>G
|
rs376899412
|
0.00009
|
|
NM_001267550.2(TTN):c.186C>T (p.Arg62=)
|
rs528853682
|
0.00009
|
|
NM_001267550.2(TTN):c.207C>T (p.Ala69=)
|
rs150548328
|
0.00009
|
|
NM_001267550.2(TTN):c.21642C>T (p.Asn7214=)
|
rs752620885
|
0.00009
|
|
NM_001267550.2(TTN):c.2230G>A (p.Ala744Thr)
|
rs144639994
|
0.00009
|
|
NM_001267550.2(TTN):c.22683T>C (p.Tyr7561=)
|
rs532700134
|
0.00009
|
|
NM_001267550.2(TTN):c.22968C>T (p.Asn7656=)
|
rs201904848
|
0.00009
|
|
NM_001267550.2(TTN):c.24227-16G>A
|
rs377340591
|
0.00009
|
|
NM_001267550.2(TTN):c.25569C>T (p.Ala8523=)
|
rs375022009
|
0.00009
|
|
NM_001267550.2(TTN):c.27328+14C>T
|
rs781624389
|
0.00009
|
|
NM_001267550.2(TTN):c.30309T>C (p.Phe10103=)
|
rs762141482
|
0.00009
|
|
NM_001267550.2(TTN):c.31208-13G>A
|
rs377135196
|
0.00009
|
|
NM_001267550.2(TTN):c.31875A>C (p.Thr10625=)
|
rs182934463
|
0.00009
|
|
NM_001267550.2(TTN):c.36159G>A (p.Thr12053=)
|
rs773862719
|
0.00009
|
|
NM_001267550.2(TTN):c.36390C>T (p.Ile12130=)
|
rs564173285
|
0.00009
|
|
NM_001267550.2(TTN):c.36816A>T (p.Val12272=)
|
rs1466177296
|
0.00009
|
|
NM_001267550.2(TTN):c.39043+16T>C
|
rs969673021
|
0.00009
|
|
NM_001267550.2(TTN):c.39212-17A>G
|
rs770122983
|
0.00009
|
|
NM_001267550.2(TTN):c.41019G>A (p.Pro13673=)
|
rs762470432
|
0.00009
|
|
NM_001267550.2(TTN):c.41931T>C (p.Tyr13977=)
|
rs369128249
|
0.00009
|
|
NM_001267550.2(TTN):c.41982T>C (p.Pro13994=)
|
rs777609108
|
0.00009
|
|
NM_001267550.2(TTN):c.44589G>A (p.Thr14863=)
|
rs369800903
|
0.00009
|
|
NM_001267550.2(TTN):c.45780A>G (p.Leu15260=)
|
rs778798573
|
0.00009
|
|
NM_001267550.2(TTN):c.46697-14A>C
|
rs371310030
|
0.00009
|
|
NM_001267550.2(TTN):c.47133A>G (p.Ala15711=)
|
rs573218266
|
0.00009
|
|
NM_001267550.2(TTN):c.52317A>G (p.Lys17439=)
|
rs370450339
|
0.00009
|
|
NM_001267550.2(TTN):c.59073T>C (p.Asp19691=)
|
rs775577598
|
0.00009
|
|
NM_001267550.2(TTN):c.63333T>G (p.Ser21111=)
|
rs780374544
|
0.00009
|
|
NM_001267550.2(TTN):c.63508+14T>C
|
rs754606417
|
0.00009
|
|
NM_001267550.2(TTN):c.64005G>A (p.Glu21335=)
|
rs749889687
|
0.00009
|
|
NM_001267550.2(TTN):c.64396+14G>A
|
rs754946782
|
0.00009
|
|
NM_001267550.2(TTN):c.65499A>G (p.Arg21833=)
|
rs369255906
|
0.00009
|
|
NM_001267550.2(TTN):c.67057+9A>G
|
rs539161527
|
0.00009
|
|
NM_001267550.2(TTN):c.68225-5T>C
|
rs758273663
|
0.00009
|
|
NM_001267550.2(TTN):c.7058-17C>T
|
rs572098454
|
0.00009
|
|
NM_001267550.2(TTN):c.72802C>T (p.Arg24268Cys)
|
rs370474301
|
0.00009
|
|
NM_001267550.2(TTN):c.75291A>G (p.Thr25097=)
|
rs375878340
|
0.00009
|
|
NM_001267550.2(TTN):c.82488C>T (p.Asp27496=)
|
rs373909196
|
0.00009
|
|
NM_001267550.2(TTN):c.83059C>T (p.Leu27687=)
|
rs200992636
|
0.00009
|
|
NM_001267550.2(TTN):c.83571C>T (p.Pro27857=)
|
rs368025526
|
0.00009
|
|
NM_001267550.2(TTN):c.83820C>T (p.Asn27940=)
|
rs727503555
|
0.00009
|
|
NM_001267550.2(TTN):c.90642A>T (p.Ala30214=)
|
rs552314114
|
0.00009
|
|
NM_001267550.2(TTN):c.95304C>T (p.Val31768=)
|
rs367755163
|
0.00009
|
|
NM_001267550.2(TTN):c.97435C>A (p.Arg32479Ser)
|
rs200148139
|
0.00009
|
|
NM_001267550.2(TTN):c.98989+12A>C
|
rs72648275
|
0.00009
|
|
NM_001267550.2(TTN):c.99660C>T (p.Tyr33220=)
|
rs763539794
|
0.00009
|
|
NM_001276345.2(TNNT2):c.208A>G (p.Met70Val)
|
rs141837529
|
0.00009
|
|
NM_001276345.2(TNNT2):c.720-4G>T
|
rs201753429
|
0.00009
|
|
NM_001276345.2(TNNT2):c.774C>T (p.Phe258=)
|
rs397516481
|
0.00009
|
|
NM_001276345.2(TNNT2):c.837C>T (p.Asn279=)
|
rs376923877
|
0.00009
|
|
NM_001276345.2(TNNT2):c.98-186C>T
|
rs576888252
|
0.00009
|
|
NM_001458.5(FLNC):c.1205C>T (p.Thr402Ile)
|
rs374757755
|
0.00009
|
|
NM_001458.5(FLNC):c.1606G>A (p.Glu536Lys)
|
rs141616435
|
0.00009
|
|
NM_001458.5(FLNC):c.1616C>T (p.Pro539Leu)
|
rs375570393
|
0.00009
|
|
NM_001458.5(FLNC):c.1814-13C>A
|
rs766268709
|
0.00009
|
|
NM_001458.5(FLNC):c.1980C>T (p.Pro660=)
|
rs762673516
|
0.00009
|
|
NM_001458.5(FLNC):c.2292C>T (p.Pro764=)
|
rs369916201
|
0.00009
|
|
NM_001458.5(FLNC):c.2513C>T (p.Ala838Val)
|
rs775085661
|
0.00009
|
|
NM_001458.5(FLNC):c.2790C>T (p.Val930=)
|
rs199966433
|
0.00009
|
|
NM_001458.5(FLNC):c.3382G>A (p.Glu1128Lys)
|
rs145724410
|
0.00009
|
|
NM_001458.5(FLNC):c.3623C>T (p.Ala1208Val)
|
rs202184162
|
0.00009
|
|
NM_001458.5(FLNC):c.3972T>C (p.His1324=)
|
rs201922688
|
0.00009
|
|
NM_001458.5(FLNC):c.480G>A (p.Thr160=)
|
rs369534561
|
0.00009
|
|
NM_001458.5(FLNC):c.4914G>A (p.Lys1638=)
|
rs371385321
|
0.00009
|
|
NM_001458.5(FLNC):c.4951+7G>A
|
rs370501464
|
0.00009
|
|
NM_001458.5(FLNC):c.5373C>T (p.Phe1791=)
|
rs370373860
|
0.00009
|
|
NM_001458.5(FLNC):c.5410A>T (p.Met1804Leu)
|
rs201949844
|
0.00009
|
|
NM_001458.5(FLNC):c.5888C>T (p.Thr1963Met)
|
rs772580545
|
0.00009
|
|
NM_001458.5(FLNC):c.643G>A (p.Val215Met)
|
rs754309921
|
0.00009
|
|
NM_001458.5(FLNC):c.7363T>C (p.Tyr2455His)
|
rs371262238
|
0.00009
|
|
NM_001458.5(FLNC):c.970-5A>G
|
rs199755800
|
0.00009
|
|
NM_001927.4(DES):c.1024-11C>A
|
rs566280820
|
0.00009
|
|
NM_001927.4(DES):c.540C>T (p.Arg180=)
|
rs757644636
|
0.00009
|
|
NM_001927.4(DES):c.642C>T (p.Asp214=)
|
rs370239228
|
0.00009
|
|
NM_001927.4(DES):c.699C>T (p.Asn233=)
|
rs758066814
|
0.00009
|
|
NM_001927.4(DES):c.736-19G>A
|
rs745667526
|
0.00009
|
|
NM_001943.5(DSG2):c.147C>T (p.Arg49=)
|
rs531036279
|
0.00009
|
|
NM_002230.4(JUP):c.1862T>C (p.Ile621Thr)
|
rs752594411
|
0.00009
|
|
NM_002471.4(MYH6):c.1485C>T (p.Phe495=)
|
rs181613656
|
0.00009
|
|
NM_002471.4(MYH6):c.1539C>T (p.Asp513=)
|
rs140141391
|
0.00009
|
|
NM_002471.4(MYH6):c.1935C>T (p.Ser645=)
|
rs142393002
|
0.00009
|
|
NM_002471.4(MYH6):c.2520G>A (p.Pro840=)
|
rs141945051
|
0.00009
|
|
NM_002471.4(MYH6):c.3118C>T (p.Leu1040=)
|
rs368497504
|
0.00009
|
|
NM_002471.4(MYH6):c.4833C>T (p.Asn1611=)
|
rs139329956
|
0.00009
|
|
NM_003803.4(MYOM1):c.1606G>A (p.Asp536Asn)
|
rs367903122
|
0.00009
|
|
NM_003803.4(MYOM1):c.3108C>T (p.Ile1036=)
|
rs373843049
|
0.00009
|
|
NM_004100.5(EYA4):c.1161C>T (p.Leu387=)
|
rs140472262
|
0.00009
|
|
NM_004100.5(EYA4):c.9C>T (p.Asp3=)
|
rs374322196
|
0.00009
|
|
NM_004415.4(DSP):c.2799G>C (p.Leu933Phe)
|
rs372922674
|
0.00009
|
|
NM_004415.4(DSP):c.3096C>T (p.Thr1032=)
|
rs139199849
|
0.00009
|
|
NM_004415.4(DSP):c.3981C>T (p.Ile1327=)
|
rs397516934
|
0.00009
|
|
NM_004415.4(DSP):c.4175G>A (p.Arg1392Gln)
|
rs201736018
|
0.00009
|
|
NM_004415.4(DSP):c.4750G>A (p.Ala1584Thr)
|
rs191778417
|
0.00009
|
|
NM_004415.4(DSP):c.5513G>A (p.Arg1838His)
|
rs377715841
|
0.00009
|
|
NM_004415.4(DSP):c.5523A>C (p.Ser1841=)
|
rs730882116
|
0.00009
|
|
NM_004415.4(DSP):c.5796C>G (p.Arg1932=)
|
rs148845182
|
0.00009
|
|
NM_004415.4(DSP):c.7077C>T (p.Ile2359=)
|
rs966841386
|
0.00009
|
|
NM_004453.4(ETFDH):c.1692A>T (p.Gly564=)
|
rs377544087
|
0.00009
|
|
NM_004453.4(ETFDH):c.1764T>C (p.His588=)
|
rs141180629
|
0.00009
|
|
NM_004517.4(ILK):c.279C>A (p.Ile93=)
|
rs565996441
|
0.00009
|
|
NM_005159.5(ACTC1):c.246C>T (p.Asp82=)
|
rs373261583
|
0.00009
|
|
NM_005159.5(ACTC1):c.455-7C>T
|
rs768363857
|
0.00009
|
|
NM_006073.4(TRDN):c.1951+15C>T
|
rs370036052
|
0.00009
|
|
NM_006073.4(TRDN):c.932-11G>T
|
rs954424960
|
0.00009
|
|
NM_006270.5(RRAS):c.540C>T (p.Asp180=)
|
rs781054110
|
0.00009
|
|
NM_006393.3(NEBL):c.2889C>T (p.Tyr963=)
|
rs202184399
|
0.00009
|
|
NM_006393.3(NEBL):c.537A>G (p.Arg179=)
|
rs562815398
|
0.00009
|
|
NM_006440.5(TXNRD2):c.1224G>C (p.Val408=)
|
rs375650172
|
0.00009
|
|
NM_006440.5(TXNRD2):c.135C>T (p.Val45=)
|
rs752213778
|
0.00009
|
|
NM_006939.4(SOS2):c.1934+11T>C
|
rs375487320
|
0.00009
|
|
NM_006939.4(SOS2):c.2600A>G (p.Asn867Ser)
|
rs561495878
|
0.00009
|
|
NM_006939.4(SOS2):c.3235A>G (p.Thr1079Ala)
|
rs61755576
|
0.00009
|
|
NM_006939.4(SOS2):c.721G>A (p.Glu241Lys)
|
rs148747022
|
0.00009
|
|
NM_006939.4(SOS2):c.88-10T>C
|
rs777771034
|
0.00009
|
|
NM_013266.4(CTNNA3):c.1978-9_1978-8del
|
rs750667259
|
0.00009
|
|
NM_014000.3(VCL):c.1329T>C (p.Ser443=)
|
rs142350240
|
0.00009
|
|
NM_014000.3(VCL):c.2142C>T (p.Asp714=)
|
rs373790383
|
0.00009
|
|
NM_014000.3(VCL):c.2799G>A (p.Ala933=)
|
rs199507346
|
0.00009
|
|
NM_014000.3(VCL):c.3066C>T (p.Ile1022=)
|
rs138619320
|
0.00009
|
|
NM_014000.3(VCL):c.3102G>A (p.Lys1034=)
|
rs373584575
|
0.00009
|
|
NM_014908.4(DOLK):c.192A>G (p.Leu64=)
|
rs563156233
|
0.00009
|
|
NM_015374.3(SUN2):c.425-4G>A
|
rs372875785
|
0.00009
|
|
NM_015374.3(SUN2):c.773A>G (p.Asp258Gly)
|
rs201945306
|
0.00009
|
|
NM_015374.3(SUN2):c.836G>A (p.Arg279Gln)
|
rs188815884
|
0.00009
|
|
NM_016203.4(PRKAG2):c.1644G>A (p.Ser548=)
|
rs376450705
|
0.00009
|
|
NM_016203.4(PRKAG2):c.187-4G>A
|
rs752294420
|
0.00009
|
|
NM_016203.4(PRKAG2):c.455G>A (p.Arg152His)
|
rs765374050
|
0.00009
|
|
NM_016203.4(PRKAG2):c.594G>A (p.Pro198=)
|
rs397517276
|
0.00009
|
|
NM_016203.4(PRKAG2):c.819C>T (p.Ile273=)
|
rs764244463
|
0.00009
|
|
NM_016599.5(MYOZ2):c.303G>A (p.Ser101=)
|
rs527258961
|
0.00009
|
|
NM_020297.4(ABCC9):c.354G>A (p.Ser118=)
|
rs189582135
|
0.00009
|
|
NM_020297.4(ABCC9):c.3621T>C (p.Ile1207=)
|
rs767458242
|
0.00009
|
|
NM_020297.4(ABCC9):c.4315+11T>C
|
rs781522912
|
0.00009
|
|
NM_020297.4(ABCC9):c.4344T>C (p.Asn1448=)
|
rs146782703
|
0.00009
|
|
NM_020433.5(JPH2):c.1169+10C>T
|
rs372219237
|
0.00009
|
|
NM_022114.4(PRDM16):c.1377G>A (p.Pro459=)
|
rs776479768
|
0.00009
|
|
NM_022114.4(PRDM16):c.1485G>A (p.Pro495=)
|
rs370666366
|
0.00009
|
|
NM_022114.4(PRDM16):c.1674G>A (p.Leu558=)
|
rs748822939
|
0.00009
|
|
NM_022114.4(PRDM16):c.2856G>A (p.Thr952=)
|
rs563342786
|
0.00009
|
|
NM_022114.4(PRDM16):c.573+9G>A
|
rs376759712
|
0.00009
|
|
NM_024422.6(DSC2):c.2251-5T>G
|
rs374262463
|
0.00009
|
|
NM_024422.6(DSC2):c.951C>T (p.Asp317=)
|
rs749810775
|
0.00009
|
|
NM_032578.4(MYPN):c.1725A>G (p.Lys575=)
|
rs143213775
|
0.00009
|
|
NM_032578.4(MYPN):c.2260A>C (p.Ile754Leu)
|
rs201245117
|
0.00009
|
|
NM_032578.4(MYPN):c.3567G>A (p.Val1189=)
|
rs1308500781
|
0.00009
|
|
NM_033118.4(MYLK2):c.1225-20G>T
|
rs368839195
|
0.00009
|
|
NM_033118.4(MYLK2):c.1605C>T (p.Leu535=)
|
rs780842075
|
0.00009
|
|
NM_033118.4(MYLK2):c.288C>T (p.Ala96=)
|
rs371130292
|
0.00009
|
|
NM_033118.4(MYLK2):c.987G>A (p.Leu329=)
|
rs200155693
|
0.00009
|
|
NM_144573.4(NEXN):c.856C>T (p.Arg286Trp)
|
rs199917913
|
0.00009
|
|
NM_144573.4(NEXN):c.949A>C (p.Met317Leu)
|
rs559464457
|
0.00009
|
|
NM_145046.5(CALR3):c.511C>T (p.Leu171=)
|
rs752204583
|
0.00009
|
|
NM_152594.3(SPRED1):c.1192G>A (p.Asp398Asn)
|
rs771480941
|
0.00009
|
|
NM_182914.3(SYNE2):c.10306G>A (p.Gly3436Ser)
|
rs768614412
|
0.00009
|
|
NM_182914.3(SYNE2):c.10760C>T (p.Ser3587Phe)
|
rs748430621
|
0.00009
|
|
NM_182914.3(SYNE2):c.12931G>A (p.Glu4311Lys)
|
rs142277402
|
0.00009
|
|
NM_182914.3(SYNE2):c.18429C>T (p.Asp6143=)
|
rs559412468
|
0.00009
|
|
NM_182914.3(SYNE2):c.18550C>T (p.Arg6184Trp)
|
rs761998546
|
0.00009
|
|
NM_182914.3(SYNE2):c.19323C>T (p.Ser6441=)
|
rs186839881
|
0.00009
|
|
NM_182914.3(SYNE2):c.19623C>T (p.Asp6541=)
|
rs150366060
|
0.00009
|
|
NM_182914.3(SYNE2):c.20061+20C>T
|
rs772301268
|
0.00009
|
|
NM_182914.3(SYNE2):c.20190+14C>T
|
rs201963415
|
0.00009
|
|
NM_182914.3(SYNE2):c.20322G>A (p.Lys6774=)
|
rs375687942
|
0.00009
|
|
NM_182914.3(SYNE2):c.20590C>T (p.Leu6864Phe)
|
rs201554266
|
0.00009
|
|
NM_182914.3(SYNE2):c.354T>C (p.Asp118=)
|
rs376281752
|
0.00009
|
|
NM_182914.3(SYNE2):c.6338A>G (p.Gln2113Arg)
|
rs772206760
|
0.00009
|
|
NM_182961.4(SYNE1):c.130-17C>T
|
rs569421654
|
0.00009
|
|
NM_182961.4(SYNE1):c.13769A>G (p.Asn4590Ser)
|
rs199827801
|
0.00009
|
|
NM_182961.4(SYNE1):c.13917C>T (p.Ser4639=)
|
rs753598358
|
0.00009
|
|
NM_182961.4(SYNE1):c.14955+8T>C
|
rs563400584
|
0.00009
|
|
NM_182961.4(SYNE1):c.15294-17T>C
|
rs116949486
|
0.00009
|
|
NM_182961.4(SYNE1):c.18309G>A (p.Lys6103=)
|
rs759825628
|
0.00009
|
|
NM_182961.4(SYNE1):c.19527A>G (p.Gln6509=)
|
rs377427003
|
0.00009
|
|
NM_182961.4(SYNE1):c.20163C>T (p.Asn6721=)
|
rs201221147
|
0.00009
|
|
NM_182961.4(SYNE1):c.21705G>A (p.Lys7235=)
|
rs148606479
|
0.00009
|
|
NM_182961.4(SYNE1):c.21951C>T (p.Ser7317=)
|
rs368864479
|
0.00009
|
|
NM_182961.4(SYNE1):c.2247G>A (p.Leu749=)
|
rs201537074
|
0.00009
|
|
NM_182961.4(SYNE1):c.22495-10T>A
|
rs528364885
|
0.00009
|
|
NM_182961.4(SYNE1):c.24129+8A>G
|
rs377056257
|
0.00009
|
|
NM_182961.4(SYNE1):c.2427G>A (p.Glu809=)
|
rs749509412
|
0.00009
|
|
NM_182961.4(SYNE1):c.24977-5C>T
|
rs767722883
|
0.00009
|
|
NM_182961.4(SYNE1):c.25092G>A (p.Pro8364=)
|
rs374755363
|
0.00009
|
|
NM_182961.4(SYNE1):c.4789-14C>T
|
rs769876215
|
0.00009
|
|
NM_182961.4(SYNE1):c.5101-11G>T
|
rs375142982
|
0.00009
|
|
NM_182961.4(SYNE1):c.6093C>T (p.His2031=)
|
rs150072383
|
0.00009
|
|
NM_182961.4(SYNE1):c.6969G>A (p.Val2323=)
|
rs140986546
|
0.00009
|
|
NM_182961.4(SYNE1):c.8241G>C (p.Gln2747His)
|
rs200658991
|
0.00009
|
|
NM_000018.4(ACADVL):c.1182+17C>A
|
rs191276923
|
0.00008
|
|
NM_000116.5(TAFAZZIN):c.657C>T (p.Asp219=)
|
rs140751478
|
0.00008
|
|
NM_000152.5(GAA):c.1265G>A (p.Arg422Gln)
|
rs2229224
|
0.00008
|
|
NM_000152.5(GAA):c.2041-4G>T
|
rs775757700
|
0.00008
|
|
NM_000152.5(GAA):c.2320G>A (p.Asp774Asn)
|
rs758390382
|
0.00008
|
|
NM_000152.5(GAA):c.2604G>A (p.Leu868=)
|
rs772250523
|
0.00008
|
|
NM_000182.5(HADHA):c.1629T>C (p.Pro543=)
|
rs1056729658
|
0.00008
|
|
NM_000231.3(SGCG):c.564G>A (p.Pro188=)
|
rs367595212
|
0.00008
|
|
NM_000256.3(MYBPC3):c.66C>T (p.Ala22=)
|
rs765986295
|
0.00008
|
|
NM_000257.4(MYH7):c.4293C>T (p.Asp1431=)
|
rs45560242
|
0.00008
|
|
NM_000258.3(MYL3):c.516G>A (p.Leu172=)
|
rs367761724
|
0.00008
|
|
NM_000475.5(NR0B1):c.207C>T (p.Cys69=)
|
rs1274628114
|
0.00008
|
|
NM_001005242.3(PKP2):c.1379-2038T>C
|
rs781397552
|
0.00008
|
|
NM_001005242.3(PKP2):c.888C>T (p.His296=)
|
rs397517029
|
0.00008
|
|
NM_001005242.3(PKP2):c.918C>T (p.Pro306=)
|
rs368656084
|
0.00008
|
|
NM_001035.3(RYR2):c.11092-11T>A
|
rs1040339463
|
0.00008
|
|
NM_001035.3(RYR2):c.11151A>G (p.Lys3717=)
|
rs748235560
|
0.00008
|
|
NM_001035.3(RYR2):c.13080C>T (p.Ser4360=)
|
rs369964660
|
0.00008
|
|
NM_001035.3(RYR2):c.13329-11T>G
|
rs778172821
|
0.00008
|
|
NM_001035.3(RYR2):c.13695C>T (p.Ser4565=)
|
rs377503418
|
0.00008
|
|
NM_001035.3(RYR2):c.13718G>A (p.Arg4573His)
|
rs371157286
|
0.00008
|
|
NM_001035.3(RYR2):c.1561G>A (p.Glu521Lys)
|
rs759494098
|
0.00008
|
|
NM_001035.3(RYR2):c.4101A>G (p.Lys1367=)
|
rs376792533
|
0.00008
|
|
NM_001035.3(RYR2):c.4735G>A (p.Val1579Met)
|
rs763389778
|
0.00008
|
|
NM_001035.3(RYR2):c.5790T>C (p.Asp1930=)
|
rs764867305
|
0.00008
|
|
NM_001035.3(RYR2):c.684C>T (p.Leu228=)
|
rs72549417
|
0.00008
|
|
NM_001035.3(RYR2):c.7158C>T (p.Asn2386=)
|
rs376057173
|
0.00008
|
|
NM_001035.3(RYR2):c.9397A>G (p.Ile3133Val)
|
rs1032783973
|
0.00008
|
|
NM_001035.3(RYR2):c.9518C>T (p.Thr3173Ile)
|
rs746161154
|
0.00008
|
|
NM_001035.3(RYR2):c.9619A>G (p.Asn3207Asp)
|
rs372601642
|
0.00008
|
|
NM_001035.3(RYR2):c.9820A>G (p.Asn3274Asp)
|
rs751551400
|
0.00008
|
|
NM_001035.3(RYR2):c.9891G>A (p.Lys3297=)
|
rs368661838
|
0.00008
|
|
NM_001103.4(ACTN2):c.154C>T (p.Leu52=)
|
rs199910162
|
0.00008
|
|
NM_001105206.3(LAMA4):c.3696+13C>T
|
rs782051116
|
0.00008
|
|
NM_001105206.3(LAMA4):c.4305T>C (p.Asp1435=)
|
rs147800037
|
0.00008
|
|
NM_001122630.2(CDKN1C):c.-1G>T
|
rs780549417
|
0.00008
|
|
NM_001130965.3(SUN1):c.1002C>T (p.Asp334=)
|
rs201953343
|
0.00008
|
|
NM_001130965.3(SUN1):c.1026G>A (p.Thr342=)
|
rs370468947
|
0.00008
|
|
NM_001130965.3(SUN1):c.1264-14T>G
|
rs1554263715
|
0.00008
|
|
NM_001134363.3(RBM20):c.2147G>A (p.Arg716Gln)
|
rs375798246
|
0.00008
|
|
NM_001134363.3(RBM20):c.2264G>A (p.Arg755His)
|
rs986602724
|
0.00008
|
|
NM_001134363.3(RBM20):c.3279C>T (p.Asp1093=)
|
rs1003478669
|
0.00008
|
|
NM_001134363.3(RBM20):c.3549C>T (p.Ser1183=)
|
rs575854668
|
0.00008
|
|
NM_001134363.3(RBM20):c.3616G>A (p.Glu1206Lys)
|
rs757389650
|
0.00008
|
|
NM_001134363.3(RBM20):c.7C>T (p.Leu3=)
|
rs993059293
|
0.00008
|
|
NM_001134363.3(RBM20):c.849C>T (p.Tyr283=)
|
rs187423999
|
0.00008
|
|
NM_001161403.3(LIMS2):c.11+1304C>T
|
rs909176511
|
0.00008
|
|
NM_001161403.3(LIMS2):c.753+8C>T
|
rs201334941
|
0.00008
|
|
NM_001232.4(CASQ2):c.855G>C (p.Leu285=)
|
rs148562107
|
0.00008
|
|
NM_001267550.2(TTN):c.103524C>T (p.Val34508=)
|
rs587780985
|
0.00008
|
|
NM_001267550.2(TTN):c.10458G>A (p.Ala3486=)
|
rs759465333
|
0.00008
|
|
NM_001267550.2(TTN):c.104640G>A (p.Glu34880=)
|
rs373134178
|
0.00008
|
|
NM_001267550.2(TTN):c.13520T>C (p.Met4507Thr)
|
rs191968963
|
0.00008
|
|
NM_001267550.2(TTN):c.1365G>A (p.Thr455=)
|
rs145211131
|
0.00008
|
|
NM_001267550.2(TTN):c.1743G>A (p.Pro581=)
|
rs138560523
|
0.00008
|
|
NM_001267550.2(TTN):c.21276C>T (p.Thr7092=)
|
rs372264428
|
0.00008
|
|
NM_001267550.2(TTN):c.25637A>G (p.Gln8546Arg)
|
rs548471822
|
0.00008
|
|
NM_001267550.2(TTN):c.26221A>G (p.Lys8741Glu)
|
rs538959125
|
0.00008
|
|
NM_001267550.2(TTN):c.26817C>T (p.Ser8939=)
|
rs370757633
|
0.00008
|
|
NM_001267550.2(TTN):c.2760C>T (p.His920=)
|
rs138788406
|
0.00008
|
|
NM_001267550.2(TTN):c.2767G>A (p.Glu923Lys)
|
rs369195237
|
0.00008
|
|
NM_001267550.2(TTN):c.30433+10T>C
|
rs763058822
|
0.00008
|
|
NM_001267550.2(TTN):c.30754+15C>A
|
rs778126116
|
0.00008
|
|
NM_001267550.2(TTN):c.31071C>T (p.His10357=)
|
rs368973334
|
0.00008
|
|
NM_001267550.2(TTN):c.33665-13A>G
|
rs535050836
|
0.00008
|
|
NM_001267550.2(TTN):c.36616+13T>A
|
rs750087490
|
0.00008
|
|
NM_001267550.2(TTN):c.36616+16T>G
|
rs764857785
|
0.00008
|
|
NM_001267550.2(TTN):c.3666A>G (p.Gln1222=)
|
rs757867206
|
0.00008
|
|
NM_001267550.2(TTN):c.3813T>C (p.Leu1271=)
|
rs773274762
|
0.00008
|
|
NM_001267550.2(TTN):c.39463+9C>T
|
rs373482203
|
0.00008
|
|
NM_001267550.2(TTN):c.39709+9G>C
|
rs765647346
|
0.00008
|
|
NM_001267550.2(TTN):c.4602C>T (p.Asn1534=)
|
rs546385657
|
0.00008
|
|
NM_001267550.2(TTN):c.48462G>A (p.Thr16154=)
|
rs202141158
|
0.00008
|
|
NM_001267550.2(TTN):c.50551+9T>C
|
rs370798229
|
0.00008
|
|
NM_001267550.2(TTN):c.54855G>A (p.Thr18285=)
|
rs200410212
|
0.00008
|
|
NM_001267550.2(TTN):c.58329T>C (p.Ala19443=)
|
rs766693145
|
0.00008
|
|
NM_001267550.2(TTN):c.60220+15A>G
|
rs769891674
|
0.00008
|
|
NM_001267550.2(TTN):c.60976G>A (p.Ala20326Thr)
|
rs370995867
|
0.00008
|
|
NM_001267550.2(TTN):c.62723G>A (p.Arg20908Gln)
|
rs377203669
|
0.00008
|
|
NM_001267550.2(TTN):c.74952T>C (p.Ser24984=)
|
rs757428242
|
0.00008
|
|
NM_001267550.2(TTN):c.76610G>A (p.Arg25537His)
|
rs561977468
|
0.00008
|
|
NM_001267550.2(TTN):c.77913T>C (p.Tyr25971=)
|
rs72648203
|
0.00008
|
|
NM_001267550.2(TTN):c.8184C>T (p.Val2728=)
|
rs753356474
|
0.00008
|
|
NM_001267550.2(TTN):c.83080C>T (p.Arg27694Cys)
|
rs192360370
|
0.00008
|
|
NM_001267550.2(TTN):c.85472G>A (p.Arg28491His)
|
rs373129706
|
0.00008
|
|
NM_001267550.2(TTN):c.86163T>C (p.Tyr28721=)
|
rs760622778
|
0.00008
|
|
NM_001267550.2(TTN):c.88183T>C (p.Phe29395Leu)
|
rs55940667
|
0.00008
|
|
NM_001267550.2(TTN):c.88767A>G (p.Glu29589=)
|
rs150540191
|
0.00008
|
|
NM_001267550.2(TTN):c.96051A>G (p.Ala32017=)
|
rs367805587
|
0.00008
|
|
NM_001267550.2(TTN):c.99582G>A (p.Pro33194=)
|
rs777730098
|
0.00008
|
|
NM_001347702.2(SYNE1):c.1455C>T (p.Pro485=)
|
rs761266231
|
0.00008
|
|
NM_001458.5(FLNC):c.1513G>A (p.Gly505Ser)
|
rs200935123
|
0.00008
|
|
NM_001458.5(FLNC):c.2040C>T (p.Thr680=)
|
rs368121231
|
0.00008
|
|
NM_001458.5(FLNC):c.3740C>T (p.Ala1247Val)
|
rs775496136
|
0.00008
|
|
NM_001458.5(FLNC):c.4459G>A (p.Val1487Met)
|
rs750186463
|
0.00008
|
|
NM_001458.5(FLNC):c.4488T>C (p.Asn1496=)
|
rs377258966
|
0.00008
|
|
NM_001458.5(FLNC):c.4651G>A (p.Ala1551Thr)
|
rs565918031
|
0.00008
|
|
NM_001458.5(FLNC):c.5216C>T (p.Pro1739Leu)
|
rs745650222
|
0.00008
|
|
NM_001458.5(FLNC):c.5263G>A (p.Ala1755Thr)
|
rs368768007
|
0.00008
|
|
NM_001458.5(FLNC):c.678C>T (p.Asp226=)
|
rs769791248
|
0.00008
|
|
NM_001458.5(FLNC):c.6817G>A (p.Ala2273Thr)
|
rs372251350
|
0.00008
|
|
NM_001458.5(FLNC):c.7434C>T (p.Ile2478=)
|
rs773767211
|
0.00008
|
|
NM_001458.5(FLNC):c.7562-17C>T
|
rs571573294
|
0.00008
|
|
NM_001985.3(ETFB):c.565G>A (p.Glu189Lys)
|
rs376065198
|
0.00008
|
|
NM_002230.4(JUP):c.1982G>A (p.Arg661Gln)
|
rs555499592
|
0.00008
|
|
NM_002230.4(JUP):c.891C>T (p.Tyr297=)
|
rs397517302
|
0.00008
|
|
NM_002471.4(MYH6):c.1141+11C>T
|
rs373521230
|
0.00008
|
|
NM_002471.4(MYH6):c.1154C>T (p.Ser385Leu)
|
rs778319108
|
0.00008
|
|
NM_002471.4(MYH6):c.3604G>A (p.Val1202Met)
|
rs368451573
|
0.00008
|
|
NM_002471.4(MYH6):c.3867G>T (p.Leu1289Phe)
|
rs138127105
|
0.00008
|
|
NM_002471.4(MYH6):c.4651-4C>A
|
rs766134513
|
0.00008
|
|
NM_002471.4(MYH6):c.5085G>A (p.Glu1695=)
|
rs1206016022
|
0.00008
|
|
NM_003803.4(MYOM1):c.3665A>G (p.Tyr1222Cys)
|
rs748819463
|
0.00008
|
|
NM_004100.5(EYA4):c.971-8A>T
|
rs761167268
|
0.00008
|
|
NM_004281.4(BAG3):c.1423G>A (p.Asp475Asn)
|
rs138832242
|
0.00008
|
|
NM_004281.4(BAG3):c.211C>T (p.Arg71Trp)
|
rs387906874
|
0.00008
|
|
NM_004281.4(BAG3):c.432C>A (p.Thr144=)
|
rs144928892
|
0.00008
|
|
NM_004415.4(DSP):c.2125C>T (p.Leu709Phe)
|
rs1431507005
|
0.00008
|
|
NM_004415.4(DSP):c.7552G>A (p.Val2518Ile)
|
rs757394666
|
0.00008
|
|
NM_004415.4(DSP):c.888C>T (p.Tyr296=)
|
rs149701627
|
0.00008
|
|
NM_004517.4(ILK):c.1296C>T (p.Asp432=)
|
rs765285266
|
0.00008
|
|
NM_005159.5(ACTC1):c.165C>T (p.Tyr55=)
|
rs149432225
|
0.00008
|
|
NM_006073.4(TRDN):c.1576A>C (p.Ile526Leu)
|
rs375091695
|
0.00008
|
|
NM_006073.4(TRDN):c.1952-8C>T
|
rs188767077
|
0.00008
|
|
NM_006270.5(RRAS):c.344+17G>A
|
rs761080520
|
0.00008
|
|
NM_006284.4(TAF10):c.*2707G>A
|
rs371539613
|
0.00008
|
|
NM_006393.3(NEBL):c.2139C>T (p.Asn713=)
|
rs202147389
|
0.00008
|
|
NM_006393.3(NEBL):c.259-13T>G
|
rs923819811
|
0.00008
|
|
NM_006939.4(SOS2):c.1935-13C>G
|
rs764835554
|
0.00008
|
|
NM_006939.4(SOS2):c.2120A>G (p.Glu707Gly)
|
rs369462490
|
0.00008
|
|
NM_006939.4(SOS2):c.2154T>C (p.Ser718=)
|
rs568511771
|
0.00008
|
|
NM_006939.4(SOS2):c.3729C>T (p.His1243=)
|
rs761917783
|
0.00008
|
|
NM_006939.4(SOS2):c.510+14G>T
|
rs897218126
|
0.00008
|
|
NM_013266.4(CTNNA3):c.1450C>T (p.Arg484Cys)
|
rs200182913
|
0.00008
|
|
NM_014476.6(PDLIM3):c.399-19C>T
|
rs201237568
|
0.00008
|
|
NM_015374.3(SUN2):c.51C>T (p.Asp17=)
|
rs759125687
|
0.00008
|
|
NM_016203.4(PRKAG2):c.1304A>G (p.Asn435Ser)
|
rs200589374
|
0.00008
|
|
NM_016203.4(PRKAG2):c.429G>A (p.Ser143=)
|
rs757727533
|
0.00008
|
|
NM_020297.4(ABCC9):c.3993C>T (p.His1331=)
|
rs377704379
|
0.00008
|
|
NM_020433.5(JPH2):c.702G>A (p.Glu234=)
|
rs539149173
|
0.00008
|
|
NM_020433.5(JPH2):c.996C>T (p.Pro332=)
|
rs754651910
|
0.00008
|
|
NM_022114.4(PRDM16):c.1614C>A (p.Pro538=)
|
rs375659212
|
0.00008
|
|
NM_022114.4(PRDM16):c.3153C>T (p.Ser1051=)
|
rs752378700
|
0.00008
|
|
NM_022114.4(PRDM16):c.451C>G (p.Leu151Val)
|
rs371021789
|
0.00008
|
|
NM_022114.4(PRDM16):c.706G>A (p.Asp236Asn)
|
rs185041492
|
0.00008
|
|
NM_024334.3(TMEM43):c.1089C>T (p.Thr363=)
|
rs145094507
|
0.00008
|
|
NM_024334.3(TMEM43):c.286C>G (p.Arg96Gly)
|
rs754797146
|
0.00008
|
|
NM_024334.3(TMEM43):c.798G>A (p.Arg266=)
|
rs139078900
|
0.00008
|
|
NM_024422.6(DSC2):c.136G>A (p.Glu46Lys)
|
rs180908546
|
0.00008
|
|
NM_032578.4(MYPN):c.3075+10C>G
|
rs1230004902
|
0.00008
|
|
NM_033118.4(MYLK2):c.519G>A (p.Glu173=)
|
rs560186994
|
0.00008
|
|
NM_144573.4(NEXN):c.1488T>C (p.Asp496=)
|
rs754485056
|
0.00008
|
|
NM_182914.3(SYNE2):c.11790G>C (p.Gly3930=)
|
rs139751176
|
0.00008
|
|
NM_182914.3(SYNE2):c.16912G>A (p.Glu5638Lys)
|
rs751734028
|
0.00008
|
|
NM_182914.3(SYNE2):c.18389+7A>T
|
rs372337180
|
0.00008
|
|
NM_182914.3(SYNE2):c.19403-7G>A
|
rs376162746
|
0.00008
|
|
NM_182914.3(SYNE2):c.2903G>A (p.Arg968His)
|
rs200356303
|
0.00008
|
|
NM_182914.3(SYNE2):c.3141G>A (p.Thr1047=)
|
rs372376442
|
0.00008
|
|
NM_182914.3(SYNE2):c.3513A>G (p.Lys1171=)
|
rs201622508
|
0.00008
|
|
NM_182914.3(SYNE2):c.4071G>A (p.Thr1357=)
|
rs371506443
|
0.00008
|
|
NM_182914.3(SYNE2):c.5751C>T (p.Leu1917=)
|
rs373040509
|
0.00008
|
|
NM_182914.3(SYNE2):c.5840+20T>C
|
rs755302292
|
0.00008
|
|
NM_182914.3(SYNE2):c.687C>G (p.Asp229Glu)
|
rs118004985
|
0.00008
|
|
NM_182914.3(SYNE2):c.9763T>G (p.Tyr3255Asp)
|
rs550381432
|
0.00008
|
|
NM_182961.4(SYNE1):c.15505C>T (p.Leu5169=)
|
rs372205287
|
0.00008
|
|
NM_182961.4(SYNE1):c.17499G>C (p.Gly5833=)
|
rs754642929
|
0.00008
|
|
NM_182961.4(SYNE1):c.18574-8A>C
|
rs749921940
|
0.00008
|
|
NM_182961.4(SYNE1):c.19554C>T (p.Pro6518=)
|
rs780644969
|
0.00008
|
|
NM_182961.4(SYNE1):c.23019+8C>A
|
rs760060099
|
0.00008
|
|
NM_182961.4(SYNE1):c.25575G>A (p.Ser8525=)
|
rs776288515
|
0.00008
|
|
NM_182961.4(SYNE1):c.26373G>A (p.Thr8791=)
|
rs370645510
|
0.00008
|
|
NM_182961.4(SYNE1):c.6102A>G (p.Glu2034=)
|
rs752482336
|
0.00008
|
|
NM_000018.4(ACADVL):c.205-7T>C
|
rs760625298
|
0.00007
|
|
NM_000018.4(ACADVL):c.205-8C>G
|
rs774353448
|
0.00007
|
|
NM_000117.3(EMD):c.12C>T (p.Tyr4=)
|
rs782011714
|
0.00007
|
|
NM_000117.3(EMD):c.400-9C>T
|
rs782061626
|
0.00007
|
|
NM_000152.5(GAA):c.1636+8C>T
|
rs572293131
|
0.00007
|
|
NM_000152.5(GAA):c.2157G>A (p.Ala719=)
|
rs201523530
|
0.00007
|
|
NM_000152.5(GAA):c.2189+10C>T
|
rs750905127
|
0.00007
|
|
NM_000182.5(HADHA):c.1515G>A (p.Lys505=)
|
rs543680661
|
0.00007
|
|
NM_000182.5(HADHA):c.1935G>A (p.Arg645=)
|
rs762246988
|
0.00007
|
|
NM_000182.5(HADHA):c.2000+9G>A
|
rs200802583
|
0.00007
|
|
NM_000182.5(HADHA):c.513C>A (p.Thr171=)
|
rs139043179
|
0.00007
|
|
NM_000256.3(MYBPC3):c.1786G>A (p.Gly596Arg)
|
rs199728019
|
0.00007
|
|
NM_000256.3(MYBPC3):c.2196C>T (p.Asp732=)
|
rs397515955
|
0.00007
|
|
NM_000257.4(MYH7):c.114C>T (p.Phe38=)
|
rs146210693
|
0.00007
|
|
NM_000257.4(MYH7):c.1671G>A (p.Leu557=)
|
rs149386750
|
0.00007
|
|
NM_000257.4(MYH7):c.4618C>T (p.Leu1540=)
|
rs368734580
|
0.00007
|
|
NM_000257.4(MYH7):c.5397A>G (p.Glu1799=)
|
rs200374977
|
0.00007
|
|
NM_000257.4(MYH7):c.5499C>T (p.Asn1833=)
|
rs3729831
|
0.00007
|
|
NM_000337.6(SGCD):c.402T>C (p.Ala134=)
|
rs190935424
|
0.00007
|
|
NM_000363.5(TNNI3):c.150+9G>T
|
rs750675608
|
0.00007
|
|
NM_000363.5(TNNI3):c.246G>T (p.Pro82=)
|
rs397516343
|
0.00007
|
|
NM_000363.5(TNNI3):c.373-4C>G
|
rs2288530
|
0.00007
|
|
NM_001005242.3(PKP2):c.795G>T (p.Gly265=)
|
rs375268778
|
0.00007
|
|
NM_001005242.3(PKP2):c.927C>T (p.Ala309=)
|
rs200152448
|
0.00007
|
|
NM_001035.3(RYR2):c.10017C>T (p.His3339=)
|
rs376439588
|
0.00007
|
|
NM_001035.3(RYR2):c.1144G>A (p.Val382Met)
|
rs370057029
|
0.00007
|
|
NM_001035.3(RYR2):c.11766G>A (p.Glu3922=)
|
rs774625105
|
0.00007
|
|
NM_001035.3(RYR2):c.12291C>T (p.Asn4097=)
|
rs377313490
|
0.00007
|
|
NM_001035.3(RYR2):c.1491C>T (p.Leu497=)
|
rs774279425
|
0.00007
|
|
NM_001035.3(RYR2):c.51T>C (p.Asp17=)
|
rs373674802
|
0.00007
|
|
NM_001035.3(RYR2):c.7495G>A (p.Ala2499Thr)
|
rs191850147
|
0.00007
|
|
NM_001035.3(RYR2):c.8830+19T>C
|
rs770534794
|
0.00007
|
|
NM_001103.4(ACTN2):c.331G>A (p.Gly111Arg)
|
rs148628141
|
0.00007
|
|
NM_001103.4(ACTN2):c.899C>T (p.Thr300Met)
|
rs144025957
|
0.00007
|
|
NM_001103.4(ACTN2):c.926C>T (p.Pro309Leu)
|
rs146568303
|
0.00007
|
|
NM_001105206.3(LAMA4):c.1077+8dup
|
rs397516713
|
0.00007
|
|
NM_001105206.3(LAMA4):c.196-11G>A
|
rs374364713
|
0.00007
|
|
NM_001122630.2(CDKN1C):c.615G>A (p.Pro205=)
|
rs1848929968
|
0.00007
|
|
NM_001122630.2(CDKN1C):c.788-4G>T
|
rs764972822
|
0.00007
|
|
NM_001130965.3(SUN1):c.1968C>T (p.Arg656=)
|
rs774990499
|
0.00007
|
|
NM_001130965.3(SUN1):c.2198C>T (p.Thr733Met)
|
rs201199820
|
0.00007
|
|
NM_001130965.3(SUN1):c.69T>C (p.Tyr23=)
|
rs373597219
|
0.00007
|
|
NM_001134363.3(RBM20):c.1053C>T (p.Asp351=)
|
rs192232825
|
0.00007
|
|
NM_001134363.3(RBM20):c.2116C>A (p.Pro706Thr)
|
rs373797219
|
0.00007
|
|
NM_001134363.3(RBM20):c.2244T>G (p.Ser748=)
|
rs727503388
|
0.00007
|
|
NM_001134363.3(RBM20):c.882C>T (p.Ser294=)
|
rs374921844
|
0.00007
|
|
NM_001159699.2(FHL1):c.736+8A>G
|
rs376754350
|
0.00007
|
|
NM_001161403.3(LIMS2):c.12-6755G>A
|
rs529824211
|
0.00007
|
|
NM_001232.4(CASQ2):c.532+17C>A
|
rs768587375
|
0.00007
|
|
NM_001256850.1(TTN):c.31360+9T>C
|
rs573677447
|
0.00007
|
|
NM_001267550.2(TTN):c.102183C>T (p.Arg34061=)
|
rs727504536
|
0.00007
|
|
NM_001267550.2(TTN):c.102984C>T (p.Asp34328=)
|
rs541125667
|
0.00007
|
|
NM_001267550.2(TTN):c.104901T>G (p.Ser34967=)
|
rs367610925
|
0.00007
|
|
NM_001267550.2(TTN):c.104943A>G (p.Glu34981=)
|
rs372312805
|
0.00007
|
|
NM_001267550.2(TTN):c.1296C>T (p.Ala432=)
|
rs549880126
|
0.00007
|
|
NM_001267550.2(TTN):c.25296C>T (p.Cys8432=)
|
rs375720439
|
0.00007
|
|
NM_001267550.2(TTN):c.28359C>T (p.His9453=)
|
rs372238447
|
0.00007
|
|
NM_001267550.2(TTN):c.31679-12G>A
|
rs372575606
|
0.00007
|
|
NM_001267550.2(TTN):c.32070C>T (p.Val10690=)
|
rs757316831
|
0.00007
|
|
NM_001267550.2(TTN):c.32187G>A (p.Thr10729=)
|
rs759267144
|
0.00007
|
|
NM_001267550.2(TTN):c.34708+20T>C
|
rs373807971
|
0.00007
|
|
NM_001267550.2(TTN):c.38876-20T>C
|
rs767261103
|
0.00007
|
|
NM_001267550.2(TTN):c.3909T>G (p.Leu1303=)
|
rs758404767
|
0.00007
|
|
NM_001267550.2(TTN):c.39882A>G (p.Ala13294=)
|
rs933885965
|
0.00007
|
|
NM_001267550.2(TTN):c.40502G>A (p.Arg13501His)
|
rs571348685
|
0.00007
|
|
NM_001267550.2(TTN):c.43167C>T (p.Ser14389=)
|
rs375780439
|
0.00007
|
|
NM_001267550.2(TTN):c.44282-7C>T
|
rs764547102
|
0.00007
|
|
NM_001267550.2(TTN):c.46273A>C (p.Arg15425=)
|
rs753808735
|
0.00007
|
|
NM_001267550.2(TTN):c.47876-18A>C
|
rs776809349
|
0.00007
|
|
NM_001267550.2(TTN):c.50121C>T (p.Asp16707=)
|
rs753788191
|
0.00007
|
|
NM_001267550.2(TTN):c.52890C>T (p.Thr17630=)
|
rs374228930
|
0.00007
|
|
NM_001267550.2(TTN):c.53142T>C (p.Asp17714=)
|
rs373316165
|
0.00007
|
|
NM_001267550.2(TTN):c.56019T>C (p.Thr18673=)
|
rs183047238
|
0.00007
|
|
NM_001267550.2(TTN):c.59331A>G (p.Val19777=)
|
rs879087831
|
0.00007
|
|
NM_001267550.2(TTN):c.63065G>A (p.Arg21022His)
|
rs727503585
|
0.00007
|
|
NM_001267550.2(TTN):c.64059T>C (p.Asp21353=)
|
rs377184630
|
0.00007
|
|
NM_001267550.2(TTN):c.64326G>A (p.Ala21442=)
|
rs377109969
|
0.00007
|
|
NM_001267550.2(TTN):c.65964C>T (p.Ile21988=)
|
rs371954292
|
0.00007
|
|
NM_001267550.2(TTN):c.66870T>C (p.Pro22290=)
|
rs1024438218
|
0.00007
|
|
NM_001267550.2(TTN):c.66C>T (p.Thr22=)
|
rs143623862
|
0.00007
|
|
NM_001267550.2(TTN):c.69660A>G (p.Ala23220=)
|
rs371996901
|
0.00007
|
|
NM_001267550.2(TTN):c.70042G>A (p.Ala23348Thr)
|
rs775146212
|
0.00007
|
|
NM_001267550.2(TTN):c.70506G>T (p.Gly23502=)
|
rs181702963
|
0.00007
|
|
NM_001267550.2(TTN):c.75129T>G (p.Val25043=)
|
rs767050764
|
0.00007
|
|
NM_001267550.2(TTN):c.75702G>T (p.Gly25234=)
|
rs1056574481
|
0.00007
|
|
NM_001267550.2(TTN):c.76854A>G (p.Val25618=)
|
rs192902075
|
0.00007
|
|
NM_001267550.2(TTN):c.77043T>C (p.Tyr25681=)
|
rs370810609
|
0.00007
|
|
NM_001267550.2(TTN):c.77073T>C (p.Asp25691=)
|
rs375398118
|
0.00007
|
|
NM_001267550.2(TTN):c.79344G>T (p.Val26448=)
|
rs369875680
|
0.00007
|
|
NM_001267550.2(TTN):c.83073T>C (p.Ala27691=)
|
rs569803719
|
0.00007
|
|
NM_001267550.2(TTN):c.96873T>C (p.Thr32291=)
|
rs368169892
|
0.00007
|
|
NM_001386795.1(DTNA):c.1479C>T (p.Ile493=)
|
rs145061501
|
0.00007
|
|
NM_001386795.1(DTNA):c.1939G>T (p.Ala647Ser)
|
rs566869682
|
0.00007
|
|
NM_001386795.1(DTNA):c.229A>G (p.Asn77Asp)
|
rs147782267
|
0.00007
|
|
NM_001458.5(FLNC):c.1053C>T (p.Thr351=)
|
rs375071103
|
0.00007
|
|
NM_001458.5(FLNC):c.1142G>A (p.Arg381His)
|
rs776469396
|
0.00007
|
|
NM_001458.5(FLNC):c.1492A>G (p.Lys498Glu)
|
rs781127889
|
0.00007
|
|
NM_001458.5(FLNC):c.1857C>T (p.Asp619=)
|
rs771469976
|
0.00007
|
|
NM_001458.5(FLNC):c.1886G>A (p.Arg629Gln)
|
rs765173966
|
0.00007
|
|
NM_001458.5(FLNC):c.205C>T (p.Arg69Trp)
|
rs758342140
|
0.00007
|
|
NM_001458.5(FLNC):c.2266-4G>A
|
rs371719048
|
0.00007
|
|
NM_001458.5(FLNC):c.2843G>A (p.Gly948Glu)
|
rs373298499
|
0.00007
|
|
NM_001458.5(FLNC):c.3582G>A (p.Ser1194=)
|
rs200712644
|
0.00007
|
|
NM_001458.5(FLNC):c.3592G>C (p.Val1198Leu)
|
rs201912847
|
0.00007
|
|
NM_001458.5(FLNC):c.3872G>A (p.Arg1291His)
|
rs370042010
|
0.00007
|
|
NM_001458.5(FLNC):c.6825C>T (p.Ser2275=)
|
rs748970432
|
0.00007
|
|
NM_001458.5(FLNC):c.6999C>T (p.Ala2333=)
|
rs201735453
|
0.00007
|
|
NM_001458.5(FLNC):c.7458C>T (p.His2486=)
|
rs752390410
|
0.00007
|
|
NM_001458.5(FLNC):c.7605G>A (p.Ser2535=)
|
rs777724201
|
0.00007
|
|
NM_001927.4(DES):c.1011C>T (p.Ala337=)
|
rs369537705
|
0.00007
|
|
NM_001943.5(DSG2):c.3195T>C (p.Thr1065=)
|
rs544981484
|
0.00007
|
|
NM_001943.5(DSG2):c.600C>A (p.Ile200=)
|
rs535646295
|
0.00007
|
|
NM_001985.3(ETFB):c.18G>C (p.Val6=)
|
rs572600030
|
0.00007
|
|
NM_001985.3(ETFB):c.402A>G (p.Thr134=)
|
rs754039782
|
0.00007
|
|
NM_002230.4(JUP):c.2230C>T (p.Leu744=)
|
rs782069599
|
0.00007
|
|
NM_002230.4(JUP):c.958C>T (p.Arg320Cys)
|
rs200740462
|
0.00007
|
|
NM_002471.4(MYH6):c.1244G>C (p.Gly415Ala)
|
rs759520932
|
0.00007
|
|
NM_002471.4(MYH6):c.3634C>T (p.Leu1212=)
|
rs1053714593
|
0.00007
|
|
NM_002471.4(MYH6):c.3988G>A (p.Ala1330Thr)
|
rs757840030
|
0.00007
|
|
NM_002471.4(MYH6):c.888G>A (p.Pro296=)
|
rs765433125
|
0.00007
|
|
NM_003803.4(MYOM1):c.432-18G>A
|
rs563036294
|
0.00007
|
|
NM_003803.4(MYOM1):c.4378+17G>A
|
rs201136152
|
0.00007
|
|
NM_004100.5(EYA4):c.971-7T>C
|
rs764351261
|
0.00007
|
|
NM_004281.4(BAG3):c.470C>T (p.Ala157Val)
|
rs541080567
|
0.00007
|
|
NM_004281.4(BAG3):c.636C>T (p.His212=)
|
rs150379892
|
0.00007
|
|
NM_004415.4(DSP):c.1044+10A>C
|
rs750114473
|
0.00007
|
|
NM_004415.4(DSP):c.1044+12G>A
|
rs775969969
|
0.00007
|
|
NM_004415.4(DSP):c.1839C>T (p.Thr613=)
|
rs397516921
|
0.00007
|
|
NM_004415.4(DSP):c.3102C>T (p.Ile1034=)
|
rs569974617
|
0.00007
|
|
NM_004415.4(DSP):c.4749C>T (p.Thr1583=)
|
rs745348231
|
0.00007
|
|
NM_004415.4(DSP):c.4901G>A (p.Arg1634Gln)
|
rs144106775
|
0.00007
|
|
NM_004415.4(DSP):c.4943A>G (p.Gln1648Arg)
|
rs202232360
|
0.00007
|
|
NM_004415.4(DSP):c.5363A>G (p.Gln1788Arg)
|
rs139673146
|
0.00007
|
|
NM_004415.4(DSP):c.7563T>C (p.Asp2521=)
|
rs984412074
|
0.00007
|
|
NM_004517.4(ILK):c.252G>A (p.Gln84=)
|
rs757818130
|
0.00007
|
|
NM_004517.4(ILK):c.864C>T (p.Val288=)
|
rs147558204
|
0.00007
|
|
NM_005159.5(ACTC1):c.465G>A (p.Leu155=)
|
rs397517062
|
0.00007
|
|
NM_005921.2(MAP3K1):c.2479G>A (p.Val827Ile)
|
rs763246417
|
0.00007
|
|
NM_006073.4(TRDN):c.1673-8T>C
|
rs202183696
|
0.00007
|
|
NM_006073.4(TRDN):c.1831+12C>A
|
rs368167703
|
0.00007
|
|
NM_006073.4(TRDN):c.1832-4C>A
|
rs539547575
|
0.00007
|
|
NM_006073.4(TRDN):c.728C>T (p.Thr243Ile)
|
rs769684583
|
0.00007
|
|
NM_006440.5(TXNRD2):c.949+11G>A
|
rs772807846
|
0.00007
|
|
NM_006939.4(SOS2):c.3337+20C>T
|
rs759267073
|
0.00007
|
|
NM_006939.4(SOS2):c.627A>G (p.Glu209=)
|
rs771839900
|
0.00007
|
|
NM_014000.3(VCL):c.1176+13A>G
|
rs758133739
|
0.00007
|
|
NM_014000.3(VCL):c.2802C>T (p.Ala934=)
|
rs372381809
|
0.00007
|
|
NM_015374.3(SUN2):c.1374G>A (p.Pro458=)
|
rs940859685
|
0.00007
|
|
NM_016203.4(PRKAG2):c.1641G>T (p.Leu547=)
|
rs764198777
|
0.00007
|
|
NM_016203.4(PRKAG2):c.187-16G>A
|
rs762396341
|
0.00007
|
|
NM_016599.5(MYOZ2):c.245A>C (p.Asn82Thr)
|
rs149125238
|
0.00007
|
|
NM_020297.4(ABCC9):c.142+10C>A
|
rs138917284
|
0.00007
|
|
NM_020297.4(ABCC9):c.2856C>T (p.Asp952=)
|
rs758697683
|
0.00007
|
|
NM_020433.5(JPH2):c.582C>T (p.Ala194=)
|
rs565885872
|
0.00007
|
|
NM_022114.4(PRDM16):c.1839C>T (p.Thr613=)
|
rs549179676
|
0.00007
|
|
NM_022114.4(PRDM16):c.2037C>T (p.Asp679=)
|
rs770781991
|
0.00007
|
|
NM_022114.4(PRDM16):c.2814G>A (p.Thr938=)
|
rs140540302
|
0.00007
|
|
NM_022114.4(PRDM16):c.3135G>A (p.Thr1045=)
|
rs761078027
|
0.00007
|
|
NM_032578.4(MYPN):c.420T>C (p.Tyr140=)
|
rs71578990
|
0.00007
|
|
NM_033118.4(MYLK2):c.1105G>A (p.Glu369Lys)
|
rs371807668
|
0.00007
|
|
NM_033118.4(MYLK2):c.261G>A (p.Ala87=)
|
rs374353729
|
0.00007
|
|
NM_133378.4(TTN):c.28030+5G>A
|
rs145387989
|
0.00007
|
|
NM_144573.4(NEXN):c.865-9T>C
|
rs182083204
|
0.00007
|
|
NM_145046.5(CALR3):c.849C>T (p.Thr283=)
|
rs142902333
|
0.00007
|
|
NM_182914.3(SYNE2):c.14486G>A (p.Cys4829Tyr)
|
rs200997641
|
0.00007
|
|
NM_182914.3(SYNE2):c.14984C>T (p.Ser4995Leu)
|
rs149790950
|
0.00007
|
|
NM_182914.3(SYNE2):c.17091G>C (p.Gly5697=)
|
rs146814777
|
0.00007
|
|
NM_182914.3(SYNE2):c.19636G>A (p.Gly6546Ser)
|
rs199577239
|
0.00007
|
|
NM_182914.3(SYNE2):c.3786+19A>G
|
rs374889181
|
0.00007
|
|
NM_182914.3(SYNE2):c.4116C>T (p.Asp1372=)
|
rs752238427
|
0.00007
|
|
NM_182914.3(SYNE2):c.6715-11T>G
|
rs538625441
|
0.00007
|
|
NM_182961.4(SYNE1):c.12399A>G (p.Glu4133=)
|
rs368597714
|
0.00007
|
|
NM_182961.4(SYNE1):c.15175C>T (p.Leu5059=)
|
rs763930147
|
0.00007
|
|
NM_182961.4(SYNE1):c.15469G>A (p.Glu5157Lys)
|
rs187403476
|
0.00007
|
|
NM_182961.4(SYNE1):c.1632+12G>T
|
rs765558597
|
0.00007
|
|
NM_182961.4(SYNE1):c.17347-6C>T
|
rs201692248
|
0.00007
|
|
NM_182961.4(SYNE1):c.17841A>G (p.Leu5947=)
|
rs143490673
|
0.00007
|
|
NM_182961.4(SYNE1):c.18213G>A (p.Lys6071=)
|
rs942245024
|
0.00007
|
|
NM_182961.4(SYNE1):c.21061T>C (p.Leu7021=)
|
rs202172980
|
0.00007
|
|
NM_182961.4(SYNE1):c.22038A>G (p.Ser7346=)
|
rs201392317
|
0.00007
|
|
NM_182961.4(SYNE1):c.24348G>A (p.Ala8116=)
|
rs371204427
|
0.00007
|
|
NM_182961.4(SYNE1):c.2448G>A (p.Pro816=)
|
rs375111758
|
0.00007
|
|
NM_182961.4(SYNE1):c.2569-7G>A
|
rs372744173
|
0.00007
|
|
NM_182961.4(SYNE1):c.2991G>A (p.Leu997=)
|
rs1014746277
|
0.00007
|
|
NM_182961.4(SYNE1):c.3934G>A (p.Glu1312Lys)
|
rs200276242
|
0.00007
|
|
NM_182961.4(SYNE1):c.4377C>T (p.Ser1459=)
|
rs146567226
|
0.00007
|
|
NM_182961.4(SYNE1):c.6231-8C>T
|
rs777108375
|
0.00007
|
|
NM_000018.4(ACADVL):c.264C>T (p.Phe88=)
|
rs147357106
|
0.00006
|
|
NM_000018.4(ACADVL):c.62+18G>A
|
rs780776419
|
0.00006
|
|
NM_000023.4(SGCA):c.62C>T (p.Thr21Ile)
|
rs199804735
|
0.00006
|
|
NM_000023.4(SGCA):c.648C>T (p.Pro216=)
|
rs758813493
|
0.00006
|
|
NM_000023.4(SGCA):c.657C>T (p.His219=)
|
rs747684069
|
0.00006
|
|
NM_000023.4(SGCA):c.957-6C>T
|
rs1406175539
|
0.00006
|
|
NM_000116.5(TAFAZZIN):c.567C>T (p.Phe189=)
|
rs141773967
|
0.00006
|
|
NM_000117.3(EMD):c.454C>T (p.Arg152Cys)
|
rs376456050
|
0.00006
|
|
NM_000126.4(ETFA):c.269-15G>A
|
rs371793833
|
0.00006
|
|
NM_000126.4(ETFA):c.442A>G (p.Ile148Val)
|
rs199673198
|
0.00006
|
|
NM_000126.4(ETFA):c.817-12C>T
|
rs752918296
|
0.00006
|
|
NM_000152.5(GAA):c.1143C>T (p.Thr381=)
|
rs111832449
|
0.00006
|
|
NM_000152.5(GAA):c.1195-15G>A
|
rs373840229
|
0.00006
|
|
NM_000152.5(GAA):c.1356C>T (p.Ala452=)
|
rs757893858
|
0.00006
|
|
NM_000152.5(GAA):c.1725C>T (p.Tyr575=)
|
rs112517802
|
0.00006
|
|
NM_000152.5(GAA):c.1754+17G>A
|
rs769797291
|
0.00006
|
|
NM_000152.5(GAA):c.1823G>A (p.Arg608Gln)
|
rs377126280
|
0.00006
|
|
NM_000152.5(GAA):c.693-5C>T
|
rs763538104
|
0.00006
|
|
NM_000152.5(GAA):c.858+15G>A
|
rs754760986
|
0.00006
|
|
NM_000152.5(GAA):c.955+15G>A
|
rs778687044
|
0.00006
|
|
NM_000182.5(HADHA):c.1425C>T (p.Asn475=)
|
rs774394602
|
0.00006
|
|
NM_000182.5(HADHA):c.2010C>T (p.Asp670=)
|
rs377688807
|
0.00006
|
|
NM_000182.5(HADHA):c.816C>A (p.Ala272=)
|
rs764851270
|
0.00006
|
|
NM_000232.5(SGCB):c.105G>A (p.Glu35=)
|
rs1214745536
|
0.00006
|
|
NM_000256.3(MYBPC3):c.132C>T (p.Arg44=)
|
rs377579620
|
0.00006
|
|
NM_000256.3(MYBPC3):c.1335G>A (p.Thr445=)
|
rs727503205
|
0.00006
|
|
NM_000256.3(MYBPC3):c.1458-7C>T
|
rs397515904
|
0.00006
|
|
NM_000256.3(MYBPC3):c.1671C>T (p.Gly557=)
|
rs751052593
|
0.00006
|
|
NM_000256.3(MYBPC3):c.1720C>A (p.Arg574=)
|
rs61897383
|
0.00006
|
|
NM_000256.3(MYBPC3):c.1815C>T (p.Asp605=)
|
rs768380030
|
0.00006
|
|
NM_000256.3(MYBPC3):c.2308+13G>A
|
rs780086088
|
0.00006
|
|
NM_000256.3(MYBPC3):c.2308+8C>T
|
rs373135387
|
0.00006
|
|
NM_000256.3(MYBPC3):c.2308+9G>A
|
rs769533145
|
0.00006
|
|
NM_000256.3(MYBPC3):c.2310C>T (p.Asp770=)
|
rs397515959
|
0.00006
|
|
NM_000256.3(MYBPC3):c.237C>T (p.Tyr79=)
|
rs730880698
|
0.00006
|
|
NM_000256.3(MYBPC3):c.2761C>G (p.Gln921Glu)
|
rs367729718
|
0.00006
|
|
NM_000256.3(MYBPC3):c.3628-32G>A
|
rs374674198
|
0.00006
|
|
NM_000256.3(MYBPC3):c.654+11C>T
|
rs535977390
|
0.00006
|
|
NM_000256.3(MYBPC3):c.654+12G>A
|
rs397516065
|
0.00006
|
|
NM_000256.3(MYBPC3):c.94G>A (p.Glu32Lys)
|
rs730880575
|
0.00006
|
|
NM_000257.4(MYH7):c.1000-7C>T
|
rs200129563
|
0.00006
|
|
NM_000257.4(MYH7):c.1179C>T (p.Ala393=)
|
rs143293426
|
0.00006
|
|
NM_000257.4(MYH7):c.1200C>T (p.Cys400=)
|
rs374806617
|
0.00006
|
|
NM_000257.4(MYH7):c.1322C>T (p.Thr441Met)
|
rs121913653
|
0.00006
|
|
NM_000257.4(MYH7):c.1888+8G>T
|
rs200668471
|
0.00006
|
|
NM_000257.4(MYH7):c.2028T>C (p.Asn676=)
|
rs145564868
|
0.00006
|
|
NM_000257.4(MYH7):c.2045-11T>G
|
rs368721414
|
0.00006
|
|
NM_000257.4(MYH7):c.2145C>T (p.Tyr715=)
|
rs146675572
|
0.00006
|
|
NM_000257.4(MYH7):c.2360G>A (p.Arg787His)
|
rs376754645
|
0.00006
|
|
NM_000257.4(MYH7):c.3336+20G>A
|
rs374030900
|
0.00006
|
|
NM_000257.4(MYH7):c.3972+7G>C
|
rs777325544
|
0.00006
|
|
NM_000257.4(MYH7):c.4053G>A (p.Thr1351=)
|
rs397516200
|
0.00006
|
|
NM_000257.4(MYH7):c.4182C>T (p.Ala1394=)
|
rs765895405
|
0.00006
|
|
NM_000257.4(MYH7):c.4353+8C>A
|
rs201253277
|
0.00006
|
|
NM_000257.4(MYH7):c.456C>G (p.Pro152=)
|
rs554968385
|
0.00006
|
|
NM_000257.4(MYH7):c.4650C>T (p.Ser1550=)
|
rs1051971790
|
0.00006
|
|
NM_000257.4(MYH7):c.5559+8G>A
|
rs377473156
|
0.00006
|
|
NM_000257.4(MYH7):c.5761C>A (p.Arg1921=)
|
rs539290591
|
0.00006
|
|
NM_000257.4(MYH7):c.714C>T (p.Asn238=)
|
rs202141819
|
0.00006
|
|
NM_000257.4(MYH7):c.78G>A (p.Ala26=)
|
rs746119986
|
0.00006
|
|
NM_000258.3(MYL3):c.420C>T (p.Phe140=)
|
rs201138698
|
0.00006
|
|
NM_000258.3(MYL3):c.552C>T (p.Asn184=)
|
rs140829951
|
0.00006
|
|
NM_000337.6(SGCD):c.295-20C>A
|
rs144250417
|
0.00006
|
|
NM_000337.6(SGCD):c.69C>T (p.Tyr23=)
|
rs397517923
|
0.00006
|
|
NM_000337.6(SGCD):c.792C>T (p.Cys264=)
|
rs367616773
|
0.00006
|
|
NM_000363.5(TNNI3):c.139T>C (p.Leu47=)
|
rs587780967
|
0.00006
|
|
NM_000363.5(TNNI3):c.363C>T (p.Asn121=)
|
rs371490136
|
0.00006
|
|
NM_000371.4(TTR):c.411C>T (p.Ser137=)
|
rs759874627
|
0.00006
|
|
NM_000432.4(MYL2):c.387G>A (p.Arg129=)
|
rs774686046
|
0.00006
|
|
NM_001005242.3(PKP2):c.1093A>G (p.Met365Val)
|
rs143900944
|
0.00006
|
|
NM_001005242.3(PKP2):c.1230C>T (p.Asp410=)
|
rs148364390
|
0.00006
|
|
NM_001005242.3(PKP2):c.2350G>A (p.Gly784Ser)
|
rs750119363
|
0.00006
|
|
NM_001005242.3(PKP2):c.486G>A (p.Thr162=)
|
rs189040311
|
0.00006
|
|
NM_001005242.3(PKP2):c.900G>A (p.Thr300=)
|
rs140235564
|
0.00006
|
|
NM_001018005.2(TPM1):c.493-18T>G
|
rs377726678
|
0.00006
|
|
NM_001018005.2(TPM1):c.563+7G>A
|
rs374563216
|
0.00006
|
|
NM_001035.3(RYR2):c.10494+13T>G
|
rs796484463
|
0.00006
|
|
NM_001035.3(RYR2):c.11403-16T>C
|
rs560731755
|
0.00006
|
|
NM_001035.3(RYR2):c.12076T>G (p.Leu4026Val)
|
rs765141566
|
0.00006
|
|
NM_001035.3(RYR2):c.13206C>T (p.Leu4402=)
|
rs397516509
|
0.00006
|
|
NM_001035.3(RYR2):c.13237C>A (p.Pro4413Thr)
|
rs773441342
|
0.00006
|
|
NM_001035.3(RYR2):c.14310C>T (p.Thr4770=)
|
rs372967537
|
0.00006
|
|
NM_001035.3(RYR2):c.14658C>G (p.Thr4886=)
|
rs771308728
|
0.00006
|
|
NM_001035.3(RYR2):c.14808+17A>C
|
rs368520821
|
0.00006
|
|
NM_001035.3(RYR2):c.14844T>C (p.Cys4948=)
|
rs540984275
|
0.00006
|
|
NM_001035.3(RYR2):c.1511G>A (p.Arg504His)
|
rs201600087
|
0.00006
|
|
NM_001035.3(RYR2):c.1518C>T (p.His506=)
|
rs372620246
|
0.00006
|
|
NM_001035.3(RYR2):c.1962-12G>A
|
rs368241264
|
0.00006
|
|
NM_001035.3(RYR2):c.2045C>G (p.Thr682Arg)
|
rs377285489
|
0.00006
|
|
NM_001035.3(RYR2):c.2203+13C>T
|
rs183060058
|
0.00006
|
|
NM_001035.3(RYR2):c.2573C>T (p.Thr858Met)
|
rs377068202
|
0.00006
|
|
NM_001035.3(RYR2):c.273+12A>G
|
rs773831812
|
0.00006
|
|
NM_001035.3(RYR2):c.2772G>A (p.Leu924=)
|
rs780664060
|
0.00006
|
|
NM_001035.3(RYR2):c.3483C>T (p.Val1161=)
|
rs777622110
|
0.00006
|
|
NM_001035.3(RYR2):c.3836G>C (p.Ser1279Thr)
|
rs751419465
|
0.00006
|
|
NM_001035.3(RYR2):c.4143C>T (p.Pro1381=)
|
rs762991553
|
0.00006
|
|
NM_001035.3(RYR2):c.4488C>T (p.Pro1496=)
|
rs370082063
|
0.00006
|
|
NM_001035.3(RYR2):c.4683+9A>G
|
rs368678508
|
0.00006
|
|
NM_001035.3(RYR2):c.5253C>T (p.Ile1751=)
|
rs745565940
|
0.00006
|
|
NM_001035.3(RYR2):c.5614G>A (p.Asp1872Asn)
|
rs761770946
|
0.00006
|
|
NM_001035.3(RYR2):c.5835C>T (p.Asn1945=)
|
rs189299988
|
0.00006
|
|
NM_001035.3(RYR2):c.5916+10T>C
|
rs372125472
|
0.00006
|
|
NM_001035.3(RYR2):c.6166+8G>A
|
rs373112536
|
0.00006
|
|
NM_001035.3(RYR2):c.7149C>T (p.His2383=)
|
rs183606632
|
0.00006
|
|
NM_001035.3(RYR2):c.7222-12T>C
|
rs540308433
|
0.00006
|
|
NM_001035.3(RYR2):c.7494G>A (p.Ala2498=)
|
rs533068485
|
0.00006
|
|
NM_001035.3(RYR2):c.8248T>A (p.Ser2750Thr)
|
rs547987180
|
0.00006
|
|
NM_001035.3(RYR2):c.8416C>T (p.Arg2806Cys)
|
rs727504134
|
0.00006
|
|
NM_001035.3(RYR2):c.848+8G>C
|
rs373075790
|
0.00006
|
|
NM_001035.3(RYR2):c.9450-9C>T
|
rs752779628
|
0.00006
|
|
NM_001035.3(RYR2):c.9672C>T (p.Ser3224=)
|
rs370740528
|
0.00006
|
|
NM_001103.4(ACTN2):c.1698C>T (p.Pro566=)
|
rs148961019
|
0.00006
|
|
NM_001103.4(ACTN2):c.1794G>A (p.Pro598=)
|
rs137890030
|
0.00006
|
|
NM_001103.4(ACTN2):c.2568G>A (p.Pro856=)
|
rs149554430
|
0.00006
|
|
NM_001103.4(ACTN2):c.2678A>G (p.Asp893Gly)
|
rs199920384
|
0.00006
|
|
NM_001103.4(ACTN2):c.354C>T (p.Gly118=)
|
rs539250948
|
0.00006
|
|
NM_001103.4(ACTN2):c.616-14T>C
|
rs750480942
|
0.00006
|
|
NM_001103.4(ACTN2):c.744C>T (p.Tyr248=)
|
rs749565466
|
0.00006
|
|
NM_001103.4(ACTN2):c.783+17C>T
|
rs780669106
|
0.00006
|
|
NM_001103.4(ACTN2):c.947T>C (p.Met316Thr)
|
rs370757762
|
0.00006
|
|
NM_001103.4(ACTN2):c.969C>T (p.Phe323=)
|
rs200247458
|
0.00006
|
|
NM_001105206.3(LAMA4):c.1189+8T>C
|
rs377133875
|
0.00006
|
|
NM_001105206.3(LAMA4):c.122C>T (p.Ala41Val)
|
rs553474007
|
0.00006
|
|
NM_001105206.3(LAMA4):c.1353C>T (p.Tyr451=)
|
rs782546070
|
0.00006
|
|
NM_001105206.3(LAMA4):c.2232G>A (p.Thr744=)
|
rs145489423
|
0.00006
|
|
NM_001105206.3(LAMA4):c.228G>A (p.Ser76=)
|
rs200589775
|
0.00006
|
|
NM_001105206.3(LAMA4):c.2619A>G (p.Glu873=)
|
rs138949462
|
0.00006
|
|
NM_001105206.3(LAMA4):c.279C>T (p.Asp93=)
|
rs397516726
|
0.00006
|
|
NM_001105206.3(LAMA4):c.2940A>C (p.Thr980=)
|
rs397516727
|
0.00006
|
|
NM_001105206.3(LAMA4):c.3307C>T (p.Arg1103Cys)
|
rs113109272
|
0.00006
|
|
NM_001105206.3(LAMA4):c.4287+16G>A
|
rs140156070
|
0.00006
|
|
NM_001105206.3(LAMA4):c.4475+12C>T
|
rs587670068
|
0.00006
|
|
NM_001105206.3(LAMA4):c.5444dup (p.Ser1816fs)
|
rs782327744
|
0.00006
|
|
NM_001105206.3(LAMA4):c.672C>T (p.Cys224=)
|
rs781903380
|
0.00006
|
|
NM_001105206.3(LAMA4):c.673G>C (p.Ala225Pro)
|
rs782121531
|
0.00006
|
|
NM_001105206.3(LAMA4):c.719-15T>C
|
rs1477613567
|
0.00006
|
|
NM_001105206.3(LAMA4):c.967-13C>T
|
rs782148493
|
0.00006
|
|
NM_001122630.2(CDKN1C):c.276G>T (p.Leu92=)
|
rs764328739
|
0.00006
|
|
NM_001122630.2(CDKN1C):c.57C>T (p.Cys19=)
|
rs759365577
|
0.00006
|
|
NM_001130965.3(SUN1):c.1263+7G>T
|
rs758135165
|
0.00006
|
|
NM_001130965.3(SUN1):c.266+10G>A
|
rs369172026
|
0.00006
|
|
NM_001130965.3(SUN1):c.537G>A (p.Ala179=)
|
rs778621413
|
0.00006
|
|
NM_001130965.3(SUN1):c.621C>T (p.Pro207=)
|
rs367825879
|
0.00006
|
|
NM_001134363.3(RBM20):c.1113C>T (p.Ser371=)
|
rs747651241
|
0.00006
|
|
NM_001134363.3(RBM20):c.1138C>T (p.Arg380Trp)
|
rs540962668
|
0.00006
|
|
NM_001134363.3(RBM20):c.1161G>A (p.Ala387=)
|
rs374299043
|
0.00006
|
|
NM_001134363.3(RBM20):c.2018G>A (p.Arg673Gln)
|
rs138926584
|
0.00006
|
|
NM_001134363.3(RBM20):c.2152C>G (p.Leu718Val)
|
rs1024449251
|
0.00006
|
|
NM_001134363.3(RBM20):c.2359G>A (p.Glu787Lys)
|
rs886038886
|
0.00006
|
|
NM_001134363.3(RBM20):c.2428A>G (p.Lys810Glu)
|
rs544407865
|
0.00006
|
|
NM_001134363.3(RBM20):c.2579A>G (p.Glu860Gly)
|
rs758720475
|
0.00006
|
|
NM_001134363.3(RBM20):c.2736C>T (p.Asp912=)
|
rs368136394
|
0.00006
|
|
NM_001134363.3(RBM20):c.3075C>T (p.Tyr1025=)
|
rs777886957
|
0.00006
|
|
NM_001134363.3(RBM20):c.3245T>G (p.Leu1082Arg)
|
rs878854252
|
0.00006
|
|
NM_001134363.3(RBM20):c.3316+11C>A
|
rs1480607643
|
0.00006
|
|
NM_001134363.3(RBM20):c.3462C>T (p.Phe1154=)
|
rs371172286
|
0.00006
|
|
NM_001134363.3(RBM20):c.348C>T (p.Ala116=)
|
rs569709951
|
0.00006
|
|
NM_001134363.3(RBM20):c.3574-7T>G
|
rs397516616
|
0.00006
|
|
NM_001134363.3(RBM20):c.442G>A (p.Gly148Ser)
|
rs375200447
|
0.00006
|
|
NM_001134363.3(RBM20):c.774G>A (p.Ser258=)
|
rs569846404
|
0.00006
|
|
NM_001134363.3(RBM20):c.924C>T (p.Val308=)
|
rs772918485
|
0.00006
|
|
NM_001232.4(CASQ2):c.270C>A (p.Gly90=)
|
rs72554056
|
0.00006
|
|
NM_001267550.2(TTN):c.101505T>C (p.Arg33835=)
|
rs368694347
|
0.00006
|
|
NM_001267550.2(TTN):c.101637T>C (p.His33879=)
|
rs373461875
|
0.00006
|
|
NM_001267550.2(TTN):c.102540T>C (p.Ser34180=)
|
rs368844570
|
0.00006
|
|
NM_001267550.2(TTN):c.103412G>A (p.Arg34471Gln)
|
rs149391616
|
0.00006
|
|
NM_001267550.2(TTN):c.105090C>T (p.Asp35030=)
|
rs72629789
|
0.00006
|
|
NM_001267550.2(TTN):c.106044C>A (p.Asn35348Lys)
|
rs145560044
|
0.00006
|
|
NM_001267550.2(TTN):c.106468T>C (p.Tyr35490His)
|
rs199663911
|
0.00006
|
|
NM_001267550.2(TTN):c.106532-19del
|
rs780849261
|
0.00006
|
|
NM_001267550.2(TTN):c.10659A>G (p.Thr3553=)
|
rs748958021
|
0.00006
|
|
NM_001267550.2(TTN):c.106926C>T (p.Gly35642=)
|
rs761965591
|
0.00006
|
|
NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln)
|
rs199531140
|
0.00006
|
|
NM_001267550.2(TTN):c.107364C>T (p.Ser35788=)
|
rs1057521273
|
0.00006
|
|
NM_001267550.2(TTN):c.11361C>T (p.Ala3787=)
|
rs747366406
|
0.00006
|
|
NM_001267550.2(TTN):c.12543C>T (p.Thr4181=)
|
rs764856949
|
0.00006
|
|
NM_001267550.2(TTN):c.12558A>G (p.Pro4186=)
|
rs72648921
|
0.00006
|
|
NM_001267550.2(TTN):c.1413G>A (p.Ala471=)
|
rs373132777
|
0.00006
|
|
NM_001267550.2(TTN):c.14343C>T (p.Val4781=)
|
rs570400005
|
0.00006
|
|
NM_001267550.2(TTN):c.15185G>A (p.Ser5062Asn)
|
rs371687650
|
0.00006
|
|
NM_001267550.2(TTN):c.17686G>A (p.Glu5896Lys)
|
rs561557554
|
0.00006
|
|
NM_001267550.2(TTN):c.18231C>T (p.Thr6077=)
|
rs377639910
|
0.00006
|
|
NM_001267550.2(TTN):c.1834A>G (p.Lys612Glu)
|
rs727505256
|
0.00006
|
|
NM_001267550.2(TTN):c.19464C>G (p.Thr6488=)
|
rs777109269
|
0.00006
|
|
NM_001267550.2(TTN):c.20836+18C>T
|
rs759032534
|
0.00006
|
|
NM_001267550.2(TTN):c.20837-12G>A
|
rs534822724
|
0.00006
|
|
NM_001267550.2(TTN):c.21744T>C (p.Ile7248=)
|
rs779975469
|
0.00006
|
|
NM_001267550.2(TTN):c.21961+17T>C
|
rs778923336
|
0.00006
|
|
NM_001267550.2(TTN):c.22241-5T>C
|
rs397517501
|
0.00006
|
|
NM_001267550.2(TTN):c.22666C>T (p.Arg7556Cys)
|
rs754885396
|
0.00006
|
|
NM_001267550.2(TTN):c.23085G>A (p.Ala7695=)
|
rs768936623
|
0.00006
|
|
NM_001267550.2(TTN):c.23382T>A (p.Pro7794=)
|
rs768874223
|
0.00006
|
|
NM_001267550.2(TTN):c.24506-17_24506-16del
|
rs776041749
|
0.00006
|
|
NM_001267550.2(TTN):c.24756T>G (p.Asp8252Glu)
|
rs764248656
|
0.00006
|
|
NM_001267550.2(TTN):c.24785-16A>G
|
rs201107387
|
0.00006
|
|
NM_001267550.2(TTN):c.26472A>G (p.Leu8824=)
|
rs542575360
|
0.00006
|
|
NM_001267550.2(TTN):c.27015T>C (p.Gly9005=)
|
rs727503643
|
0.00006
|
|
NM_001267550.2(TTN):c.27050-6G>A
|
rs765624428
|
0.00006
|
|
NM_001267550.2(TTN):c.27615G>A (p.Pro9205=)
|
rs750218480
|
0.00006
|
|
NM_001267550.2(TTN):c.27631T>C (p.Leu9211=)
|
rs563954136
|
0.00006
|
|
NM_001267550.2(TTN):c.29041+17A>T
|
rs746635297
|
0.00006
|
|
NM_001267550.2(TTN):c.29041+18del
|
rs747899220
|
0.00006
|
|
NM_001267550.2(TTN):c.29115G>A (p.Gln9705=)
|
rs773659138
|
0.00006
|
|
NM_001267550.2(TTN):c.29637C>T (p.Asp9879=)
|
rs375591605
|
0.00006
|
|
NM_001267550.2(TTN):c.31270+12G>T
|
rs564264476
|
0.00006
|
|
NM_001267550.2(TTN):c.3132C>T (p.Ala1044=)
|
rs777315600
|
0.00006
|
|
NM_001267550.2(TTN):c.32198-10T>C
|
rs371121439
|
0.00006
|
|
NM_001267550.2(TTN):c.33173-4G>A
|
rs727504440
|
0.00006
|
|
NM_001267550.2(TTN):c.37446C>G (p.Pro12482=)
|
rs1434836109
|
0.00006
|
|
NM_001267550.2(TTN):c.37860C>T (p.Ala12620=)
|
rs1446730289
|
0.00006
|
|
NM_001267550.2(TTN):c.37873+9T>A
|
rs1060503931
|
0.00006
|
|
NM_001267550.2(TTN):c.38487C>T (p.Ala12829=)
|
rs758210075
|
0.00006
|
|
NM_001267550.2(TTN):c.39050A>G (p.Glu13017Gly)
|
rs368056479
|
0.00006
|
|
NM_001267550.2(TTN):c.39090G>A (p.Ala13030=)
|
rs375519815
|
0.00006
|
|
NM_001267550.2(TTN):c.39547+19T>C
|
rs559113689
|
0.00006
|
|
NM_001267550.2(TTN):c.39885G>A (p.Pro13295=)
|
rs756518824
|
0.00006
|
|
NM_001267550.2(TTN):c.40227T>C (p.Arg13409=)
|
rs3754951
|
0.00006
|
|
NM_001267550.2(TTN):c.40787-20C>T
|
rs771157322
|
0.00006
|
|
NM_001267550.2(TTN):c.40998G>A (p.Glu13666=)
|
rs547824083
|
0.00006
|
|
NM_001267550.2(TTN):c.42151+17A>G
|
rs546392087
|
0.00006
|
|
NM_001267550.2(TTN):c.42415+7G>A
|
rs772004291
|
0.00006
|
|
NM_001267550.2(TTN):c.42795T>C (p.Asp14265=)
|
rs750211026
|
0.00006
|
|
NM_001267550.2(TTN):c.45083-12C>T
|
rs377143579
|
0.00006
|
|
NM_001267550.2(TTN):c.46430-8C>T
|
rs773395217
|
0.00006
|
|
NM_001267550.2(TTN):c.47598A>G (p.Leu15866=)
|
rs879099244
|
0.00006
|
|
NM_001267550.2(TTN):c.47859C>T (p.Thr15953=)
|
rs769989672
|
0.00006
|
|
NM_001267550.2(TTN):c.49406T>A (p.Leu16469His)
|
rs72677245
|
0.00006
|
|
NM_001267550.2(TTN):c.49476T>C (p.Pro16492=)
|
rs180961450
|
0.00006
|
|
NM_001267550.2(TTN):c.49740T>C (p.Gly16580=)
|
rs763857395
|
0.00006
|
|
NM_001267550.2(TTN):c.51704G>A (p.Arg17235Gln)
|
rs573695008
|
0.00006
|
|
NM_001267550.2(TTN):c.52188T>C (p.Asp17396=)
|
rs757796723
|
0.00006
|
|
NM_001267550.2(TTN):c.53295T>C (p.Pro17765=)
|
rs771792080
|
0.00006
|
|
NM_001267550.2(TTN):c.54517C>T (p.Pro18173Ser)
|
rs766074604
|
0.00006
|
|
NM_001267550.2(TTN):c.55059T>C (p.Asn18353=)
|
rs553295928
|
0.00006
|
|
NM_001267550.2(TTN):c.55435G>A (p.Val18479Ile)
|
rs559712998
|
0.00006
|
|
NM_001267550.2(TTN):c.55809G>A (p.Pro18603=)
|
rs750472100
|
0.00006
|
|
NM_001267550.2(TTN):c.56943G>A (p.Ala18981=)
|
rs370998052
|
0.00006
|
|
NM_001267550.2(TTN):c.57112-14T>C
|
rs777473081
|
0.00006
|
|
NM_001267550.2(TTN):c.5740G>A (p.Ala1914Thr)
|
rs118161093
|
0.00006
|
|
NM_001267550.2(TTN):c.60198G>A (p.Pro20066=)
|
rs767152563
|
0.00006
|
|
NM_001267550.2(TTN):c.60471C>T (p.Ala20157=)
|
rs397517645
|
0.00006
|
|
NM_001267550.2(TTN):c.60654G>A (p.Thr20218=)
|
rs776141268
|
0.00006
|
|
NM_001267550.2(TTN):c.61695C>T (p.Asn20565=)
|
rs554051600
|
0.00006
|
|
NM_001267550.2(TTN):c.62149A>G (p.Arg20717Gly)
|
rs75458912
|
0.00006
|
|
NM_001267550.2(TTN):c.62679C>T (p.Gly20893=)
|
rs188059075
|
0.00006
|
|
NM_001267550.2(TTN):c.62844T>G (p.Pro20948=)
|
rs770335539
|
0.00006
|
|
NM_001267550.2(TTN):c.63132T>C (p.Ile21044=)
|
rs561183059
|
0.00006
|
|
NM_001267550.2(TTN):c.64673-5T>C
|
rs530496528
|
0.00006
|
|
NM_001267550.2(TTN):c.64734C>T (p.Ser21578=)
|
rs773855604
|
0.00006
|
|
NM_001267550.2(TTN):c.64860G>A (p.Arg21620=)
|
rs373713828
|
0.00006
|
|
NM_001267550.2(TTN):c.65379C>T (p.Phe21793=)
|
rs377017745
|
0.00006
|
|
NM_001267550.2(TTN):c.66480G>A (p.Pro22160=)
|
rs372814670
|
0.00006
|
|
NM_001267550.2(TTN):c.67636+11A>G
|
rs185898410
|
0.00006
|
|
NM_001267550.2(TTN):c.68208T>A (p.Val22736=)
|
rs727503575
|
0.00006
|
|
NM_001267550.2(TTN):c.69741G>A (p.Pro23247=)
|
rs566393354
|
0.00006
|
|
NM_001267550.2(TTN):c.7023C>T (p.Asp2341=)
|
rs761409144
|
0.00006
|
|
NM_001267550.2(TTN):c.70305G>A (p.Thr23435=)
|
rs397517684
|
0.00006
|
|
NM_001267550.2(TTN):c.70470T>C (p.His23490=)
|
rs879185626
|
0.00006
|
|
NM_001267550.2(TTN):c.70851A>G (p.Arg23617=)
|
rs753207751
|
0.00006
|
|
NM_001267550.2(TTN):c.71487T>C (p.Pro23829=)
|
rs1271635071
|
0.00006
|
|
NM_001267550.2(TTN):c.72992G>A (p.Arg24331His)
|
rs755174224
|
0.00006
|
|
NM_001267550.2(TTN):c.73491T>C (p.Tyr24497=)
|
rs545377175
|
0.00006
|
|
NM_001267550.2(TTN):c.75099C>T (p.Asp25033=)
|
rs370272814
|
0.00006
|
|
NM_001267550.2(TTN):c.76699G>T (p.Val25567Phe)
|
rs3813244
|
0.00006
|
|
NM_001267550.2(TTN):c.7890C>A (p.Thr2630=)
|
rs144247127
|
0.00006
|
|
NM_001267550.2(TTN):c.81758A>G (p.Asn27253Ser)
|
rs529055709
|
0.00006
|
|
NM_001267550.2(TTN):c.81891C>T (p.Ala27297=)
|
rs370796537
|
0.00006
|
|
NM_001267550.2(TTN):c.83081G>A (p.Arg27694His)
|
rs775499341
|
0.00006
|
|
NM_001267550.2(TTN):c.83514C>T (p.Phe27838=)
|
rs779213695
|
0.00006
|
|
NM_001267550.2(TTN):c.86046G>A (p.Pro28682=)
|
rs566982088
|
0.00006
|
|
NM_001267550.2(TTN):c.86463A>G (p.Gly28821=)
|
rs368268066
|
0.00006
|
|
NM_001267550.2(TTN):c.86550C>A (p.Thr28850=)
|
rs762837581
|
0.00006
|
|
NM_001267550.2(TTN):c.86700C>T (p.Asn28900=)
|
rs727504793
|
0.00006
|
|
NM_001267550.2(TTN):c.87201A>C (p.Pro29067=)
|
rs989274784
|
0.00006
|
|
NM_001267550.2(TTN):c.89520C>T (p.Asp29840=)
|
rs746569192
|
0.00006
|
|
NM_001267550.2(TTN):c.91089G>A (p.Lys30363=)
|
rs762103106
|
0.00006
|
|
NM_001267550.2(TTN):c.9195G>A (p.Lys3065=)
|
rs780650145
|
0.00006
|
|
NM_001267550.2(TTN):c.92152+11G>A
|
rs372798472
|
0.00006
|
|
NM_001267550.2(TTN):c.93254C>T (p.Pro31085Leu)
|
rs549841864
|
0.00006
|
|
NM_001267550.2(TTN):c.95078C>A (p.Ala31693Asp)
|
rs2288326
|
0.00006
|
|
NM_001267550.2(TTN):c.9639C>T (p.Ser3213=)
|
rs760666570
|
0.00006
|
|
NM_001267550.2(TTN):c.96904+13T>G
|
rs779376692
|
0.00006
|
|
NM_001267550.2(TTN):c.97192+15C>T
|
rs777269400
|
0.00006
|
|
NM_001267550.2(TTN):c.97331G>C (p.Arg32444Pro)
|
rs184922462
|
0.00006
|
|
NM_001267550.2(TTN):c.98544C>G (p.Ser32848=)
|
rs756591209
|
0.00006
|
|
NM_001276345.2(TNNT2):c.114G>A (p.Ala38=)
|
rs200283086
|
0.00006
|
|
NM_001276345.2(TNNT2):c.430C>A (p.Arg144=)
|
rs45525839
|
0.00006
|
|
NM_001276345.2(TNNT2):c.489+18C>T
|
rs377743847
|
0.00006
|
|
NM_001276345.2(TNNT2):c.601-8C>T
|
rs397516475
|
0.00006
|
|
NM_001289808.2(CRYAB):c.120G>A (p.Thr40=)
|
rs374981255
|
0.00006
|
|
NM_001289808.2(CRYAB):c.216G>A (p.Lys72=)
|
rs561116151
|
0.00006
|
|
NM_001386795.1(DTNA):c.1532+16C>T
|
rs562514105
|
0.00006
|
|
NM_001386795.1(DTNA):c.1592C>T (p.Thr531Met)
|
rs199828427
|
0.00006
|
|
NM_001386795.1(DTNA):c.1593G>A (p.Thr531=)
|
rs748063105
|
0.00006
|
|
NM_001386795.1(DTNA):c.423A>G (p.Gly141=)
|
rs376651004
|
0.00006
|
|
NM_001386795.1(DTNA):c.448+10T>G
|
rs757645396
|
0.00006
|
|
NM_001386795.1(DTNA):c.603+15T>C
|
rs367772080
|
0.00006
|
|
NM_001458.5(FLNC):c.1505A>T (p.Lys502Met)
|
rs780486915
|
0.00006
|
|
NM_001458.5(FLNC):c.1885C>T (p.Arg629Trp)
|
rs759376455
|
0.00006
|
|
NM_001458.5(FLNC):c.2064T>G (p.Ala688=)
|
rs773444538
|
0.00006
|
|
NM_001458.5(FLNC):c.2382G>A (p.Ala794=)
|
rs536456072
|
0.00006
|
|
NM_001458.5(FLNC):c.2596G>A (p.Asp866Asn)
|
rs201006462
|
0.00006
|
|
NM_001458.5(FLNC):c.2641+18G>A
|
rs763402287
|
0.00006
|
|
NM_001458.5(FLNC):c.2994A>G (p.Gln998=)
|
rs558712725
|
0.00006
|
|
NM_001458.5(FLNC):c.352+8C>G
|
rs780084616
|
0.00006
|
|
NM_001458.5(FLNC):c.3772C>T (p.Pro1258Ser)
|
rs374764212
|
0.00006
|
|
NM_001458.5(FLNC):c.3887C>T (p.Ser1296Leu)
|
rs747587140
|
0.00006
|
|
NM_001458.5(FLNC):c.3927C>T (p.Asp1309=)
|
rs761297336
|
0.00006
|
|
NM_001458.5(FLNC):c.469C>T (p.Arg157Cys)
|
rs759739899
|
0.00006
|
|
NM_001458.5(FLNC):c.4991C>T (p.Thr1664Met)
|
rs780829334
|
0.00006
|
|
NM_001458.5(FLNC):c.5264C>G (p.Ala1755Gly)
|
rs1286156977
|
0.00006
|
|
NM_001458.5(FLNC):c.5277C>T (p.Pro1759=)
|
rs763698034
|
0.00006
|
|
NM_001458.5(FLNC):c.5397A>C (p.Thr1799=)
|
rs781322314
|
0.00006
|
|
NM_001458.5(FLNC):c.5398+6G>C
|
rs746415033
|
0.00006
|
|
NM_001458.5(FLNC):c.5468C>T (p.Thr1823Met)
|
rs140857707
|
0.00006
|
|
NM_001458.5(FLNC):c.5791C>T (p.Arg1931Cys)
|
rs562155863
|
0.00006
|
|
NM_001458.5(FLNC):c.5796C>T (p.Phe1932=)
|
rs572337697
|
0.00006
|
|
NM_001458.5(FLNC):c.5944C>T (p.Arg1982Cys)
|
rs538779271
|
0.00006
|
|
NM_001458.5(FLNC):c.6114C>T (p.Ile2038=)
|
rs559639511
|
0.00006
|
|
NM_001458.5(FLNC):c.6134G>A (p.Arg2045Gln)
|
rs747196571
|
0.00006
|
|
NM_001458.5(FLNC):c.642C>T (p.Pro214=)
|
rs2291558
|
0.00006
|
|
NM_001458.5(FLNC):c.651C>T (p.Asn217=)
|
rs370425863
|
0.00006
|
|
NM_001458.5(FLNC):c.6816C>T (p.Ser2272=)
|
rs375139827
|
0.00006
|
|
NM_001458.5(FLNC):c.6987C>T (p.Ala2329=)
|
rs771037016
|
0.00006
|
|
NM_001458.5(FLNC):c.7090C>T (p.Arg2364Cys)
|
rs374973240
|
0.00006
|
|
NM_001458.5(FLNC):c.7366G>A (p.Val2456Ile)
|
rs770796119
|
0.00006
|
|
NM_001458.5(FLNC):c.8091T>C (p.Thr2697=)
|
rs369131204
|
0.00006
|
|
NM_001927.4(DES):c.1024-7C>G
|
rs779098835
|
0.00006
|
|
NM_001927.4(DES):c.99C>T (p.Pro33=)
|
rs774006810
|
0.00006
|
|
NM_001943.5(DSG2):c.1089G>A (p.Ser363=)
|
rs372598337
|
0.00006
|
|
NM_001943.5(DSG2):c.1491C>T (p.Pro497=)
|
rs587780928
|
0.00006
|
|
NM_001943.5(DSG2):c.15G>C (p.Pro5=)
|
rs772663614
|
0.00006
|
|
NM_001943.5(DSG2):c.1847C>T (p.Ala616Val)
|
rs375527314
|
0.00006
|
|
NM_001943.5(DSG2):c.2001+20A>G
|
rs746383404
|
0.00006
|
|
NM_001943.5(DSG2):c.2085G>A (p.Thr695=)
|
rs554396523
|
0.00006
|
|
NM_001943.5(DSG2):c.2241C>T (p.Thr747=)
|
rs767628208
|
0.00006
|
|
NM_001943.5(DSG2):c.524-6T>C
|
rs755923878
|
0.00006
|
|
NM_001985.3(ETFB):c.708C>T (p.Gly236=)
|
rs749837573
|
0.00006
|
|
NM_001985.3(ETFB):c.81C>T (p.Thr27=)
|
rs374819445
|
0.00006
|
|
NM_002230.4(JUP):c.1055-14del
|
rs140002183
|
0.00006
|
|
NM_002230.4(JUP):c.1713C>G (p.Ala571=)
|
rs138446862
|
0.00006
|
|
NM_002230.4(JUP):c.561C>T (p.Ala187=)
|
rs139552714
|
0.00006
|
|
NM_002230.4(JUP):c.762C>T (p.Leu254=)
|
rs781805854
|
0.00006
|
|
NM_002230.4(JUP):c.972T>C (p.Tyr324=)
|
rs781889333
|
0.00006
|
|
NM_002471.4(MYH6):c.1327C>T (p.Arg443Cys)
|
rs182373896
|
0.00006
|
|
NM_002471.4(MYH6):c.1752C>T (p.Ala584=)
|
rs756971568
|
0.00006
|
|
NM_002471.4(MYH6):c.1884C>T (p.Ala628=)
|
rs771423826
|
0.00006
|
|
NM_002471.4(MYH6):c.201+9G>A
|
rs781068852
|
0.00006
|
|
NM_002471.4(MYH6):c.2293-19A>G
|
rs375891567
|
0.00006
|
|
NM_002471.4(MYH6):c.2685G>A (p.Ala895=)
|
rs752345245
|
0.00006
|
|
NM_002471.4(MYH6):c.3177C>T (p.Gly1059=)
|
rs529676901
|
0.00006
|
|
NM_002471.4(MYH6):c.3378C>T (p.Ala1126=)
|
rs752939591
|
0.00006
|
|
NM_002471.4(MYH6):c.3798A>G (p.Glu1266=)
|
rs756915746
|
0.00006
|
|
NM_002471.4(MYH6):c.4047C>T (p.Tyr1349=)
|
rs570555040
|
0.00006
|
|
NM_002471.4(MYH6):c.4455G>A (p.Lys1485=)
|
rs376316942
|
0.00006
|
|
NM_002471.4(MYH6):c.4525+13T>C
|
rs397516770
|
0.00006
|
|
NM_002471.4(MYH6):c.4542T>C (p.Leu1514=)
|
rs200288559
|
0.00006
|
|
NM_002471.4(MYH6):c.4651-14C>A
|
rs902807471
|
0.00006
|
|
NM_002471.4(MYH6):c.5292C>T (p.Ala1764=)
|
rs753745013
|
0.00006
|
|
NM_002471.4(MYH6):c.800-5C>T
|
rs727505228
|
0.00006
|
|
NM_002633.3(PGM1):c.1248T>C (p.His416=)
|
rs754762400
|
0.00006
|
|
NM_002633.3(PGM1):c.442T>G (p.Phe148Val)
|
rs755467080
|
0.00006
|
|
NM_003280.3(TNNC1):c.195C>T (p.Asp65=)
|
rs370426309
|
0.00006
|
|
NM_003280.3(TNNC1):c.24+10A>G
|
rs770581962
|
0.00006
|
|
NM_003280.3(TNNC1):c.444C>T (p.Ile148=)
|
rs149428762
|
0.00006
|
|
NM_003476.5(CSRP3):c.16G>A (p.Gly6Arg)
|
rs185980145
|
0.00006
|
|
NM_003476.5(CSRP3):c.294G>A (p.Pro98=)
|
rs142832902
|
0.00006
|
|
NM_003476.5(CSRP3):c.415-9G>C
|
rs761203242
|
0.00006
|
|
NM_003673.4(TCAP):c.132C>T (p.Asp44=)
|
rs397516861
|
0.00006
|
|
NM_003803.4(MYOM1):c.1104G>A (p.Val368=)
|
rs368146973
|
0.00006
|
|
NM_003803.4(MYOM1):c.1112-4C>T
|
rs138604278
|
0.00006
|
|
NM_003803.4(MYOM1):c.1725C>A (p.Ile575=)
|
rs780564541
|
0.00006
|
|
NM_003803.4(MYOM1):c.1971C>T (p.Ser657=)
|
rs369168803
|
0.00006
|
|
NM_003803.4(MYOM1):c.2350G>A (p.Glu784Lys)
|
rs368949465
|
0.00006
|
|
NM_003803.4(MYOM1):c.3575+16A>G
|
rs757727554
|
0.00006
|
|
NM_003803.4(MYOM1):c.387A>G (p.Lys129=)
|
rs370293379
|
0.00006
|
|
NM_003803.4(MYOM1):c.4340-8C>G
|
rs751819067
|
0.00006
|
|
NM_003803.4(MYOM1):c.576A>G (p.Ala192=)
|
rs371608361
|
0.00006
|
|
NM_003803.4(MYOM1):c.582G>A (p.Lys194=)
|
rs772622576
|
0.00006
|
|
NM_003803.4(MYOM1):c.783C>T (p.Thr261=)
|
rs538968449
|
0.00006
|
|
NM_004100.5(EYA4):c.1197C>T (p.Pro399=)
|
rs373910569
|
0.00006
|
|
NM_004100.5(EYA4):c.1338A>G (p.Leu446=)
|
rs200309400
|
0.00006
|
|
NM_004100.5(EYA4):c.1773G>A (p.Arg591=)
|
rs772266373
|
0.00006
|
|
NM_004100.5(EYA4):c.580+8A>C
|
rs529080186
|
0.00006
|
|
NM_004281.4(BAG3):c.1166G>A (p.Ser389Asn)
|
rs140251789
|
0.00006
|
|
NM_004281.4(BAG3):c.1214C>T (p.Ala405Val)
|
rs11199064
|
0.00006
|
|
NM_004281.4(BAG3):c.1362C>T (p.Ile454=)
|
rs372417286
|
0.00006
|
|
NM_004281.4(BAG3):c.1422C>T (p.Ala474=)
|
rs727505000
|
0.00006
|
|
NM_004281.4(BAG3):c.1523A>G (p.Tyr508Cys)
|
rs747583925
|
0.00006
|
|
NM_004281.4(BAG3):c.167C>G (p.Ser56Cys)
|
rs777100532
|
0.00006
|
|
NM_004281.4(BAG3):c.180+15C>T
|
rs557837780
|
0.00006
|
|
NM_004281.4(BAG3):c.400T>A (p.Ser134Thr)
|
rs375257731
|
0.00006
|
|
NM_004281.4(BAG3):c.487C>T (p.Pro163Ser)
|
rs746956979
|
0.00006
|
|
NM_004281.4(BAG3):c.574G>A (p.Gly192Ser)
|
rs201487919
|
0.00006
|
|
NM_004281.4(BAG3):c.693G>A (p.Thr231=)
|
rs144034433
|
0.00006
|
|
NM_004415.4(DSP):c.1155G>A (p.Ala385=)
|
rs140488069
|
0.00006
|
|
NM_004415.4(DSP):c.183G>A (p.Thr61=)
|
rs150383703
|
0.00006
|
|
NM_004415.4(DSP):c.2122G>A (p.Glu708Lys)
|
rs773113261
|
0.00006
|
|
NM_004415.4(DSP):c.2437-20T>G
|
rs778134276
|
0.00006
|
|
NM_004415.4(DSP):c.2630+19G>A
|
rs139830549
|
0.00006
|
|
NM_004415.4(DSP):c.3294C>G (p.Asp1098Glu)
|
rs535762713
|
0.00006
|
|
NM_004415.4(DSP):c.3836C>T (p.Ala1279Val)
|
rs753270443
|
0.00006
|
|
NM_004415.4(DSP):c.4022G>A (p.Arg1341His)
|
rs112242645
|
0.00006
|
|
NM_004415.4(DSP):c.4117A>G (p.Thr1373Ala)
|
rs200745877
|
0.00006
|
|
NM_004415.4(DSP):c.4793T>A (p.Leu1598Gln)
|
rs369449858
|
0.00006
|
|
NM_004415.4(DSP):c.4914C>T (p.Asp1638=)
|
rs750113099
|
0.00006
|
|
NM_004415.4(DSP):c.5463C>T (p.Val1821=)
|
rs961915749
|
0.00006
|
|
NM_004415.4(DSP):c.561C>T (p.Val187=)
|
rs199585428
|
0.00006
|
|
NM_004415.4(DSP):c.6188G>A (p.Arg2063Gln)
|
rs142927608
|
0.00006
|
|
NM_004415.4(DSP):c.6654C>T (p.Thr2218=)
|
rs727503005
|
0.00006
|
|
NM_004415.4(DSP):c.726+7G>C
|
rs370309952
|
0.00006
|
|
NM_004415.4(DSP):c.729C>T (p.Arg243=)
|
rs141028505
|
0.00006
|
|
NM_004415.4(DSP):c.783G>A (p.Ala261=)
|
rs764596108
|
0.00006
|
|
NM_004415.4(DSP):c.915C>T (p.Ile305=)
|
rs148395326
|
0.00006
|
|
NM_004453.4(ETFDH):c.1690+20C>T
|
rs376588328
|
0.00006
|
|
NM_004453.4(ETFDH):c.846T>C (p.Asp282=)
|
rs371927583
|
0.00006
|
|
NM_004453.4(ETFDH):c.882T>C (p.Thr294=)
|
rs770579929
|
0.00006
|
|
NM_005159.5(ACTC1):c.129+18C>A
|
rs368977747
|
0.00006
|
|
NM_005159.5(ACTC1):c.717G>A (p.Glu239=)
|
rs369019849
|
0.00006
|
|
NM_005343.4(HRAS):c.42G>A (p.Val14=)
|
rs777038147
|
0.00006
|
|
NM_005921.2(MAP3K1):c.1921A>G (p.Met641Val)
|
rs759485701
|
0.00006
|
|
NM_006073.4(TRDN):c.1106-8T>C
|
rs575469218
|
0.00006
|
|
NM_006073.4(TRDN):c.1832-15T>C
|
rs904511303
|
0.00006
|
|
NM_006073.4(TRDN):c.1975+8C>T
|
rs754046696
|
0.00006
|
|
NM_006270.5(RRAS):c.229G>A (p.Ala77Thr)
|
rs200611081
|
0.00006
|
|
NM_006393.3(NEBL):c.1339-20T>C
|
rs370957821
|
0.00006
|
|
NM_006393.3(NEBL):c.1870G>C (p.Val624Leu)
|
rs186851083
|
0.00006
|
|
NM_006393.3(NEBL):c.1878C>T (p.Tyr626=)
|
rs551329782
|
0.00006
|
|
NM_006393.3(NEBL):c.1998G>A (p.Pro666=)
|
rs761798662
|
0.00006
|
|
NM_006393.3(NEBL):c.2055G>A (p.Ala685=)
|
rs746081261
|
0.00006
|
|
NM_006393.3(NEBL):c.2619G>A (p.Ala873=)
|
rs140803920
|
0.00006
|
|
NM_006393.3(NEBL):c.367G>A (p.Glu123Lys)
|
rs189440246
|
0.00006
|
|
NM_006393.3(NEBL):c.777T>G (p.Leu259=)
|
rs377624818
|
0.00006
|
|
NM_006440.5(TXNRD2):c.104-19C>A
|
rs531374621
|
0.00006
|
|
NM_006440.5(TXNRD2):c.1176C>T (p.Tyr392=)
|
rs544242322
|
0.00006
|
|
NM_006440.5(TXNRD2):c.1341T>G (p.Tyr447Ter)
|
rs202059967
|
0.00006
|
|
NM_006440.5(TXNRD2):c.1445+13G>T
|
rs938029725
|
0.00006
|
|
NM_006440.5(TXNRD2):c.174C>T (p.Ala58=)
|
rs767236339
|
0.00006
|
|
NM_006440.5(TXNRD2):c.504C>T (p.Cys168=)
|
rs752481782
|
0.00006
|
|
NM_006440.5(TXNRD2):c.714C>T (p.Thr238=)
|
rs202225486
|
0.00006
|
|
NM_006440.5(TXNRD2):c.72C>A (p.Gly24=)
|
rs1032624911
|
0.00006
|
|
NM_006440.5(TXNRD2):c.774+11A>G
|
rs779646678
|
0.00006
|
|
NM_006912.6(RIT1):c.106+15C>T
|
rs755316223
|
0.00006
|
|
NM_006939.4(SOS2):c.1198G>A (p.Asp400Asn)
|
rs200368064
|
0.00006
|
|
NM_006939.4(SOS2):c.2700C>T (p.Asp900=)
|
rs369410641
|
0.00006
|
|
NM_006939.4(SOS2):c.2959-16A>G
|
rs147830734
|
0.00006
|
|
NM_006939.4(SOS2):c.504G>A (p.Ala168=)
|
rs199898102
|
0.00006
|
|
NM_006939.4(SOS2):c.674G>A (p.Arg225Gln)
|
rs780580623
|
0.00006
|
|
NM_012082.4(ZFPM2):c.1164C>T (p.Ser388=)
|
rs376392532
|
0.00006
|
|
NM_012082.4(ZFPM2):c.3438A>G (p.Ala1146=)
|
rs369522665
|
0.00006
|
|
NM_013266.4(CTNNA3):c.1035G>A (p.Glu345=)
|
rs368211074
|
0.00006
|
|
NM_013266.4(CTNNA3):c.1476C>T (p.Val492=)
|
rs182681928
|
0.00006
|
|
NM_013266.4(CTNNA3):c.1491A>G (p.Val497=)
|
rs141098613
|
0.00006
|
|
NM_013266.4(CTNNA3):c.2159+13A>G
|
rs895448832
|
0.00006
|
|
NM_013266.4(CTNNA3):c.844-10C>T
|
rs754623972
|
0.00006
|
|
NM_014000.3(VCL):c.168+20C>A
|
rs368934323
|
0.00006
|
|
NM_014000.3(VCL):c.169-7C>G
|
rs370213146
|
0.00006
|
|
NM_014000.3(VCL):c.2349G>A (p.Val783=)
|
rs558040780
|
0.00006
|
|
NM_014000.3(VCL):c.2748G>A (p.Pro916=)
|
rs761794669
|
0.00006
|
|
NM_014000.3(VCL):c.404T>C (p.Ile135Thr)
|
rs373744314
|
0.00006
|
|
NM_014476.6(PDLIM3):c.375T>C (p.Pro125=)
|
rs372840074
|
0.00006
|
|
NM_014476.6(PDLIM3):c.54A>G (p.Ser18=)
|
rs768654855
|
0.00006
|
|
NM_014908.4(DOLK):c.1197A>G (p.Arg399=)
|
rs767133437
|
0.00006
|
|
NM_014908.4(DOLK):c.1557C>T (p.Tyr519=)
|
rs367609050
|
0.00006
|
|
NM_014908.4(DOLK):c.210C>G (p.Val70=)
|
rs750368652
|
0.00006
|
|
NM_014908.4(DOLK):c.52G>A (p.Gly18Arg)
|
rs777998210
|
0.00006
|
|
NM_015374.3(SUN2):c.1152C>T (p.Ser384=)
|
rs373906710
|
0.00006
|
|
NM_015374.3(SUN2):c.1190+9C>T
|
rs778700058
|
0.00006
|
|
NM_015374.3(SUN2):c.1353C>T (p.Asp451=)
|
rs373597815
|
0.00006
|
|
NM_015374.3(SUN2):c.1779+7A>T
|
rs374667255
|
0.00006
|
|
NM_015374.3(SUN2):c.459G>A (p.Ser153=)
|
rs138320872
|
0.00006
|
|
NM_015374.3(SUN2):c.615-9G>A
|
rs757921553
|
0.00006
|
|
NM_016203.4(PRKAG2):c.1051+20T>C
|
rs748641955
|
0.00006
|
|
NM_016203.4(PRKAG2):c.130G>A (p.Ala44Thr)
|
rs144857453
|
0.00006
|
|
NM_016203.4(PRKAG2):c.206C>T (p.Pro69Leu)
|
rs182750960
|
0.00006
|
|
NM_016203.4(PRKAG2):c.514C>G (p.Gln172Glu)
|
rs730880972
|
0.00006
|
|
NM_016203.4(PRKAG2):c.864+20A>G
|
rs370643442
|
0.00006
|
|
NM_020297.4(ABCC9):c.1619-7T>C
|
rs769816456
|
0.00006
|
|
NM_020297.4(ABCC9):c.1988G>A (p.Arg663His)
|
rs141999048
|
0.00006
|
|
NM_020297.4(ABCC9):c.2784C>G (p.Asp928Glu)
|
rs139472403
|
0.00006
|
|
NM_020297.4(ABCC9):c.3566+15T>C
|
rs766079858
|
0.00006
|
|
NM_020297.4(ABCC9):c.411G>T (p.Leu137=)
|
rs368753369
|
0.00006
|
|
NM_020297.4(ABCC9):c.4212-18A>C
|
rs761501699
|
0.00006
|
|
NM_020297.4(ABCC9):c.4437T>C (p.Ile1479=)
|
rs368079660
|
0.00006
|
|
NM_020297.4(ABCC9):c.817-12T>C
|
rs775774825
|
0.00006
|
|
NM_020297.4(ABCC9):c.817-16T>C
|
rs762981270
|
0.00006
|
|
NM_020297.4(ABCC9):c.882G>A (p.Gly294=)
|
rs764574133
|
0.00006
|
|
NM_020433.5(JPH2):c.1272G>A (p.Pro424=)
|
rs113719056
|
0.00006
|
|
NM_020433.5(JPH2):c.1771G>A (p.Gly591Arg)
|
rs751914931
|
0.00006
|
|
NM_020433.5(JPH2):c.1977A>G (p.Ala659=)
|
rs148093975
|
0.00006
|
|
NM_020433.5(JPH2):c.380-20C>T
|
rs779167207
|
0.00006
|
|
NM_020433.5(JPH2):c.861C>T (p.Thr287=)
|
rs565508885
|
0.00006
|
|
NM_021167.5(GATAD1):c.591C>T (p.Asp197=)
|
rs1031781653
|
0.00006
|
|
NM_022114.4(PRDM16):c.141C>T (p.Pro47=)
|
rs746262080
|
0.00006
|
|
NM_022114.4(PRDM16):c.1947T>C (p.Phe649=)
|
rs1369460161
|
0.00006
|
|
NM_022114.4(PRDM16):c.2118C>T (p.Pro706=)
|
rs543211916
|
0.00006
|
|
NM_022114.4(PRDM16):c.2295C>T (p.Gly765=)
|
rs376224745
|
0.00006
|
|
NM_022114.4(PRDM16):c.2604-13T>C
|
rs750825082
|
0.00006
|
|
NM_022114.4(PRDM16):c.3284+17G>A
|
rs376268478
|
0.00006
|
|
NM_022114.4(PRDM16):c.3366C>T (p.Asp1122=)
|
rs370195954
|
0.00006
|
|
NM_022114.4(PRDM16):c.3696+10C>T
|
rs369030039
|
0.00006
|
|
NM_022114.4(PRDM16):c.387+12C>T
|
rs371946677
|
0.00006
|
|
NM_022114.4(PRDM16):c.399G>A (p.Thr133=)
|
rs368785625
|
0.00006
|
|
NM_022114.4(PRDM16):c.75C>T (p.Asn25=)
|
rs759261262
|
0.00006
|
|
NM_022114.4(PRDM16):c.822C>T (p.Gly274=)
|
rs372730781
|
0.00006
|
|
NM_022114.4(PRDM16):c.969C>T (p.Asn323=)
|
rs371151181
|
0.00006
|
|
NM_024334.3(TMEM43):c.1185A>G (p.Pro395=)
|
rs747754860
|
0.00006
|
|
NM_024334.3(TMEM43):c.442+20C>T
|
rs202103307
|
0.00006
|
|
NM_024334.3(TMEM43):c.802C>T (p.Arg268Trp)
|
rs201138253
|
0.00006
|
|
NM_024334.3(TMEM43):c.981A>G (p.Thr327=)
|
rs764960823
|
0.00006
|
|
NM_024422.6(DSC2):c.1591A>C (p.Arg531=)
|
rs727502981
|
0.00006
|
|
NM_024422.6(DSC2):c.1638T>C (p.Asn546=)
|
rs145987522
|
0.00006
|
|
NM_024422.6(DSC2):c.2103G>A (p.Leu701=)
|
rs141726394
|
0.00006
|
|
NM_024422.6(DSC2):c.2126-7C>G
|
rs936641955
|
0.00006
|
|
NM_024422.6(DSC2):c.2151G>C (p.Gly717=)
|
rs752691135
|
0.00006
|
|
NM_024422.6(DSC2):c.2259G>A (p.Ala753=)
|
rs201086521
|
0.00006
|
|
NM_032578.4(MYPN):c.1046C>A (p.Thr349Lys)
|
rs763819518
|
0.00006
|
|
NM_032578.4(MYPN):c.1839C>T (p.Ser613=)
|
rs140063470
|
0.00006
|
|
NM_032578.4(MYPN):c.1851G>A (p.Val617=)
|
rs751087472
|
0.00006
|
|
NM_032578.4(MYPN):c.1890G>A (p.Glu630=)
|
rs201960380
|
0.00006
|
|
NM_032578.4(MYPN):c.3493+10G>T
|
rs780545084
|
0.00006
|
|
NM_032578.4(MYPN):c.3886T>A (p.Ser1296Thr)
|
rs199585352
|
0.00006
|
|
NM_032578.4(MYPN):c.597C>T (p.Phe199=)
|
rs778049757
|
0.00006
|
|
NM_033118.4(MYLK2):c.105C>T (p.Asp35=)
|
rs551492045
|
0.00006
|
|
NM_033118.4(MYLK2):c.1204G>T (p.Val402Phe)
|
rs779637525
|
0.00006
|
|
NM_033118.4(MYLK2):c.1356G>A (p.Glu452=)
|
rs147329431
|
0.00006
|
|
NM_033118.4(MYLK2):c.1479C>T (p.Asn493=)
|
rs141415487
|
0.00006
|
|
NM_033118.4(MYLK2):c.282G>A (p.Pro94=)
|
rs200710399
|
0.00006
|
|
NM_033118.4(MYLK2):c.331C>T (p.Pro111Ser)
|
rs750548324
|
0.00006
|
|
NM_144573.4(NEXN):c.1422G>A (p.Arg474=)
|
rs775204901
|
0.00006
|
|
NM_144573.4(NEXN):c.270A>G (p.Val90=)
|
rs756902771
|
0.00006
|
|
NM_145046.5(CALR3):c.159G>A (p.Ser53=)
|
rs372912264
|
0.00006
|
|
NM_182914.3(SYNE2):c.11055A>G (p.Ser3685=)
|
rs377064380
|
0.00006
|
|
NM_182914.3(SYNE2):c.14088G>A (p.Gly4696=)
|
rs200893674
|
0.00006
|
|
NM_182914.3(SYNE2):c.14184A>G (p.Thr4728=)
|
rs753123786
|
0.00006
|
|
NM_182914.3(SYNE2):c.14976+7T>C
|
rs373748782
|
0.00006
|
|
NM_182914.3(SYNE2):c.15552C>T (p.Asn5184=)
|
rs201334658
|
0.00006
|
|
NM_182914.3(SYNE2):c.15689A>G (p.Lys5230Arg)
|
rs146573874
|
0.00006
|
|
NM_182914.3(SYNE2):c.16374A>T (p.Gln5458His)
|
rs191057574
|
0.00006
|
|
NM_182914.3(SYNE2):c.17409G>A (p.Lys5803=)
|
rs746000868
|
0.00006
|
|
NM_182914.3(SYNE2):c.17973G>A (p.Glu5991=)
|
rs146253751
|
0.00006
|
|
NM_182914.3(SYNE2):c.18834C>T (p.Asp6278=)
|
rs757742735
|
0.00006
|
|
NM_182914.3(SYNE2):c.19501C>T (p.Pro6501Ser)
|
rs200937358
|
0.00006
|
|
NM_182914.3(SYNE2):c.19911C>T (p.Asn6637=)
|
rs201444715
|
0.00006
|
|
NM_182914.3(SYNE2):c.2289C>T (p.Asp763=)
|
rs201026780
|
0.00006
|
|
NM_182914.3(SYNE2):c.303A>G (p.Leu101=)
|
rs371277498
|
0.00006
|
|
NM_182914.3(SYNE2):c.3708C>T (p.Gly1236=)
|
rs373420375
|
0.00006
|
|
NM_182914.3(SYNE2):c.5893A>G (p.Lys1965Glu)
|
rs80046702
|
0.00006
|
|
NM_182914.3(SYNE2):c.7664C>T (p.Thr2555Met)
|
rs201297144
|
0.00006
|
|
NM_182914.3(SYNE2):c.787+15T>G
|
rs374295389
|
0.00006
|
|
NM_182914.3(SYNE2):c.788-6T>C
|
rs200037313
|
0.00006
|
|
NM_182914.3(SYNE2):c.8862G>T (p.Ala2954=)
|
rs373930498
|
0.00006
|
|
NM_182914.3(SYNE2):c.9813C>T (p.Ser3271=)
|
rs764422613
|
0.00006
|
|
NM_182961.4(SYNE1):c.10149A>G (p.Gln3383=)
|
rs369227827
|
0.00006
|
|
NM_182961.4(SYNE1):c.10300-6C>T
|
rs762645232
|
0.00006
|
|
NM_182961.4(SYNE1):c.10785C>T (p.Asn3595=)
|
rs377049622
|
0.00006
|
|
NM_182961.4(SYNE1):c.10935C>T (p.His3645=)
|
rs201704617
|
0.00006
|
|
NM_182961.4(SYNE1):c.12798T>A (p.Ser4266=)
|
rs373438870
|
0.00006
|
|
NM_182961.4(SYNE1):c.14727G>A (p.Gly4909=)
|
rs767294195
|
0.00006
|
|
NM_182961.4(SYNE1):c.18783A>G (p.Gln6261=)
|
rs774395991
|
0.00006
|
|
NM_182961.4(SYNE1):c.19693-15G>A
|
rs187885923
|
0.00006
|
|
NM_182961.4(SYNE1):c.20027G>A (p.Arg6676Gln)
|
rs190673256
|
0.00006
|
|
NM_182961.4(SYNE1):c.20409A>G (p.Glu6803=)
|
rs375649094
|
0.00006
|
|
NM_182961.4(SYNE1):c.21657-20G>C
|
rs369177487
|
0.00006
|
|
NM_182961.4(SYNE1):c.22589+18T>C
|
rs200821668
|
0.00006
|
|
NM_182961.4(SYNE1):c.22590-17A>G
|
rs756803477
|
0.00006
|
|
NM_182961.4(SYNE1):c.22902G>A (p.Ser7634=)
|
rs140577642
|
0.00006
|
|
NM_182961.4(SYNE1):c.23874C>T (p.Asp7958=)
|
rs749141262
|
0.00006
|
|
NM_182961.4(SYNE1):c.2893-14C>T
|
rs914254176
|
0.00006
|
|
NM_182961.4(SYNE1):c.2893-5G>A
|
rs370196519
|
0.00006
|
|
NM_182961.4(SYNE1):c.3879G>A (p.Gln1293=)
|
rs754584363
|
0.00006
|
|
NM_182961.4(SYNE1):c.4053A>T (p.Thr1351=)
|
rs966425412
|
0.00006
|
|
NM_182961.4(SYNE1):c.4749T>A (p.Ser1583=)
|
rs201761581
|
0.00006
|
|
NM_182961.4(SYNE1):c.581+7A>G
|
rs367617527
|
0.00006
|
|
NM_182961.4(SYNE1):c.6021A>G (p.Lys2007=)
|
rs533039765
|
0.00006
|
|
NM_182961.4(SYNE1):c.6603T>C (p.Asp2201=)
|
rs199965276
|
0.00006
|
|
NM_182961.4(SYNE1):c.7308C>T (p.Thr2436=)
|
rs144910464
|
0.00006
|
|
NM_182961.4(SYNE1):c.8403C>T (p.Tyr2801=)
|
rs757104773
|
0.00006
|
|
NM_182961.4(SYNE1):c.8488-15T>G
|
rs754541640
|
0.00006
|
|
NM_182961.4(SYNE1):c.8652+14C>T
|
rs761672973
|
0.00006
|
|
NM_182961.4(SYNE1):c.9738C>T (p.Ala3246=)
|
rs140123292
|
0.00006
|
|
NM_000018.4(ACADVL):c.1077+16G>A
|
rs780420241
|
0.00005
|
|
NM_000018.4(ACADVL):c.1078-13G>C
|
rs368366316
|
0.00005
|
|
NM_000018.4(ACADVL):c.1719C>T (p.Ile573=)
|
rs372452333
|
0.00005
|
|
NM_000018.4(ACADVL):c.623-18T>C
|
rs777866869
|
0.00005
|
|
NM_000018.4(ACADVL):c.752+7T>C
|
rs753057653
|
0.00005
|
|
NM_000018.4(ACADVL):c.954A>G (p.Pro318=)
|
rs137919558
|
0.00005
|
|
NM_000023.4(SGCA):c.313-10C>T
|
rs569744194
|
0.00005
|
|
NM_000023.4(SGCA):c.585-33A>C
|
rs1451479850
|
0.00005
|
|
NM_000023.4(SGCA):c.699C>T (p.Tyr233=)
|
rs201860673
|
0.00005
|
|
NM_000023.4(SGCA):c.789C>A (p.Thr263=)
|
rs769688229
|
0.00005
|
|
NM_000023.4(SGCA):c.978C>T (p.Thr326=)
|
rs747187312
|
0.00005
|
|
NM_000116.5(TAFAZZIN):c.110-6C>T
|
rs782099193
|
0.00005
|
|
NM_000117.3(EMD):c.108G>A (p.Lys36=)
|
rs1057521050
|
0.00005
|
|
NM_000117.3(EMD):c.166G>A (p.Ala56Thr)
|
rs1057520579
|
0.00005
|
|
NM_000117.3(EMD):c.355C>A (p.Gln119Lys)
|
rs398123157
|
0.00005
|
|
NM_000117.3(EMD):c.525C>T (p.Ser175=)
|
rs782367505
|
0.00005
|
|
NM_000152.5(GAA):c.1075+20C>T
|
rs370379513
|
0.00005
|
|
NM_000152.5(GAA):c.1075+9T>C
|
rs751918816
|
0.00005
|
|
NM_000152.5(GAA):c.1425G>A (p.Pro475=)
|
rs753140491
|
0.00005
|
|
NM_000152.5(GAA):c.1437+19G>A
|
rs746904197
|
0.00005
|
|
NM_000152.5(GAA):c.1488G>A (p.Leu496=)
|
rs750777002
|
0.00005
|
|
NM_000152.5(GAA):c.1932C>T (p.Ala644=)
|
rs746194098
|
0.00005
|
|
NM_000152.5(GAA):c.2418G>A (p.Thr806=)
|
rs371528938
|
0.00005
|
|
NM_000152.5(GAA):c.2481+15C>T
|
rs771155956
|
0.00005
|
|
NM_000152.5(GAA):c.249C>T (p.Asp83=)
|
rs377351519
|
0.00005
|
|
NM_000152.5(GAA):c.408C>T (p.Tyr136=)
|
rs774018778
|
0.00005
|
|
NM_000152.5(GAA):c.510C>T (p.Asp170=)
|
rs564758226
|
0.00005
|
|
NM_000152.5(GAA):c.546+17C>T
|
rs529918753
|
0.00005
|
|
NM_000152.5(GAA):c.693-13C>G
|
rs760379754
|
0.00005
|
|
NM_000152.5(GAA):c.858+18G>A
|
rs747775111
|
0.00005
|
|
NM_000182.5(HADHA):c.1752C>T (p.Ala584=)
|
rs761749332
|
0.00005
|
|
NM_000182.5(HADHA):c.1947T>A (p.Asn649Lys)
|
rs777153382
|
0.00005
|
|
NM_000182.5(HADHA):c.2106C>T (p.Ile702=)
|
rs267599302
|
0.00005
|
|
NM_000182.5(HADHA):c.764A>G (p.Lys255Arg)
|
rs754673524
|
0.00005
|
|
NM_000231.3(SGCG):c.414A>G (p.Gln138=)
|
rs770596449
|
0.00005
|
|
NM_000232.5(SGCB):c.519G>A (p.Pro173=)
|
rs755701680
|
0.00005
|
|
NM_000256.3(MYBPC3):c.1227-10C>T
|
rs374673836
|
0.00005
|
|
NM_000256.3(MYBPC3):c.1494C>G (p.Thr498=)
|
rs397515906
|
0.00005
|
|
NM_000256.3(MYBPC3):c.1869C>T (p.Cys623=)
|
rs397515932
|
0.00005
|
|
NM_000256.3(MYBPC3):c.1953C>T (p.Cys651=)
|
rs936188645
|
0.00005
|
|
NM_000256.3(MYBPC3):c.2413+14C>T
|
rs371889003
|
0.00005
|
|
NM_000256.3(MYBPC3):c.3003C>T (p.Pro1001=)
|
rs397515996
|
0.00005
|
|
NM_000256.3(MYBPC3):c.3024C>A (p.Thr1008=)
|
rs1019544911
|
0.00005
|
|
NM_000256.3(MYBPC3):c.372C>T (p.Ala124=)
|
rs11570046
|
0.00005
|
|
NM_000256.3(MYBPC3):c.534G>T (p.Val178=)
|
rs759249105
|
0.00005
|
|
NM_000257.4(MYH7):c.1251C>G (p.Val417=)
|
rs370628924
|
0.00005
|
|
NM_000257.4(MYH7):c.1323G>A (p.Thr441=)
|
rs397516096
|
0.00005
|
|
NM_000257.4(MYH7):c.153C>T (p.Ile51=)
|
rs373145667
|
0.00005
|
|
NM_000257.4(MYH7):c.3273C>T (p.Asn1091=)
|
rs200664031
|
0.00005
|
|
NM_000257.4(MYH7):c.4290G>T (p.Val1430=)
|
rs372476972
|
0.00005
|
|
NM_000257.4(MYH7):c.4347C>T (p.Phe1449=)
|
rs182311329
|
0.00005
|
|
NM_000257.4(MYH7):c.444C>T (p.Ser148=)
|
rs374466146
|
0.00005
|
|
NM_000257.4(MYH7):c.5559+7C>T
|
rs758428001
|
0.00005
|
|
NM_000258.3(MYL3):c.399C>T (p.Phe133=)
|
rs112992334
|
0.00005
|
|
NM_000363.5(TNNI3):c.39C>G (p.Arg13=)
|
rs397516346
|
0.00005
|
|
NM_000371.4(TTR):c.336+18C>T
|
rs370628373
|
0.00005
|
|
NM_000371.4(TTR):c.437A>G (p.Lys146Arg)
|
rs536294863
|
0.00005
|
|
NM_000475.5(NR0B1):c.965C>G (p.Thr322Ser)
|
rs776650491
|
0.00005
|
|
NM_001005242.3(PKP2):c.1137C>T (p.His379=)
|
rs754927123
|
0.00005
|
|
NM_001005242.3(PKP2):c.123G>T (p.Ala41=)
|
rs757273590
|
0.00005
|
|
NM_001005242.3(PKP2):c.1379-1960T>C
|
rs1028861380
|
0.00005
|
|
NM_001005242.3(PKP2):c.1379-2000T>A
|
rs769899368
|
0.00005
|
|
NM_001005242.3(PKP2):c.576G>A (p.Pro192=)
|
rs373380483
|
0.00005
|
|
NM_001005242.3(PKP2):c.725C>T (p.Thr242Met)
|
rs201580443
|
0.00005
|
|
NM_001035.3(RYR2):c.10293T>C (p.Leu3431=)
|
rs727505058
|
0.00005
|
|
NM_001035.3(RYR2):c.10699C>T (p.Arg3567Cys)
|
rs559154874
|
0.00005
|
|
NM_001035.3(RYR2):c.11418T>C (p.Asn3806=)
|
rs889979768
|
0.00005
|
|
NM_001035.3(RYR2):c.12189G>A (p.Thr4063=)
|
rs368948386
|
0.00005
|
|
NM_001035.3(RYR2):c.13600C>T (p.Pro4534Ser)
|
rs199624074
|
0.00005
|
|
NM_001035.3(RYR2):c.2410C>T (p.Leu804Phe)
|
rs577451406
|
0.00005
|
|
NM_001035.3(RYR2):c.4160+15C>T
|
rs376097712
|
0.00005
|
|
NM_001035.3(RYR2):c.5454T>C (p.Phe1818=)
|
rs201218861
|
0.00005
|
|
NM_001035.3(RYR2):c.5793T>G (p.Asp1931Glu)
|
rs372222227
|
0.00005
|
|
NM_001035.3(RYR2):c.8209-13G>C
|
rs759582222
|
0.00005
|
|
NM_001035.3(RYR2):c.9580+9G>A
|
rs767679867
|
0.00005
|
|
NM_001103.4(ACTN2):c.1476A>T (p.Arg492=)
|
rs397516569
|
0.00005
|
|
NM_001103.4(ACTN2):c.1485G>A (p.Thr495=)
|
rs201179281
|
0.00005
|
|
NM_001103.4(ACTN2):c.2278G>A (p.Ala760Thr)
|
rs757134452
|
0.00005
|
|
NM_001103.4(ACTN2):c.2527-19C>T
|
rs765325935
|
0.00005
|
|
NM_001103.4(ACTN2):c.537-14C>T
|
rs577211083
|
0.00005
|
|
NM_001103.4(ACTN2):c.720C>T (p.Pro240=)
|
rs375935508
|
0.00005
|
|
NM_001105206.3(LAMA4):c.1584A>G (p.Glu528=)
|
rs782245349
|
0.00005
|
|
NM_001105206.3(LAMA4):c.1962G>A (p.Ala654=)
|
rs140246538
|
0.00005
|
|
NM_001105206.3(LAMA4):c.2214C>T (p.Thr738=)
|
rs782058486
|
0.00005
|
|
NM_001105206.3(LAMA4):c.2901G>A (p.Ser967=)
|
rs148096716
|
0.00005
|
|
NM_001105206.3(LAMA4):c.5364C>A (p.Pro1788=)
|
rs370510960
|
0.00005
|
|
NM_001105206.3(LAMA4):c.901G>A (p.Val301Ile)
|
rs200722112
|
0.00005
|
|
NM_001130965.3(SUN1):c.2220G>A (p.Ser740=)
|
rs375028589
|
0.00005
|
|
NM_001130965.3(SUN1):c.452-14G>T
|
rs200870545
|
0.00005
|
|
NM_001130965.3(SUN1):c.597G>A (p.Thr199=)
|
rs374832216
|
0.00005
|
|
NM_001134363.3(RBM20):c.14C>T (p.Ala5Val)
|
rs1488746272
|
0.00005
|
|
NM_001134363.3(RBM20):c.1529T>C (p.Phe510Ser)
|
rs372567331
|
0.00005
|
|
NM_001134363.3(RBM20):c.1620G>A (p.Leu540=)
|
rs1015562037
|
0.00005
|
|
NM_001134363.3(RBM20):c.1899G>A (p.Pro633=)
|
rs1446760969
|
0.00005
|
|
NM_001134363.3(RBM20):c.1996C>T (p.Arg666Trp)
|
rs570820786
|
0.00005
|
|
NM_001134363.3(RBM20):c.2017C>T (p.Arg673Trp)
|
rs397516599
|
0.00005
|
|
NM_001134363.3(RBM20):c.2691G>A (p.Gly897=)
|
rs549274248
|
0.00005
|
|
NM_001134363.3(RBM20):c.3273A>G (p.Glu1091=)
|
rs886458288
|
0.00005
|
|
NM_001134363.3(RBM20):c.3317-19C>G
|
rs748164628
|
0.00005
|
|
NM_001134363.3(RBM20):c.3369C>T (p.Tyr1123=)
|
rs780897226
|
0.00005
|
|
NM_001134363.3(RBM20):c.3523A>G (p.Thr1175Ala)
|
rs768548680
|
0.00005
|
|
NM_001134363.3(RBM20):c.399C>T (p.Leu133=)
|
rs746776894
|
0.00005
|
|
NM_001134363.3(RBM20):c.540C>T (p.Pro180=)
|
rs576099332
|
0.00005
|
|
NM_001159699.2(FHL1):c.408C>T (p.Thr136=)
|
rs755900253
|
0.00005
|
|
NM_001159699.2(FHL1):c.456C>T (p.Ile152=)
|
rs747594885
|
0.00005
|
|
NM_001159699.2(FHL1):c.550-15C>A
|
rs764137409
|
0.00005
|
|
NM_001159699.2(FHL1):c.696T>C (p.Phe232=)
|
rs758030097
|
0.00005
|
|
NM_001159699.2(FHL1):c.737-18C>T
|
rs866716263
|
0.00005
|
|
NM_001161403.3(LIMS2):c.192C>T (p.Cys64=)
|
rs142079668
|
0.00005
|
|
NM_001161403.3(LIMS2):c.582C>T (p.Gly194=)
|
rs766876564
|
0.00005
|
|
NM_001232.4(CASQ2):c.897C>T (p.Pro299=)
|
rs752053912
|
0.00005
|
|
NM_001232.4(CASQ2):c.927C>T (p.Asp309=)
|
rs749266321
|
0.00005
|
|
NM_001267550.2(TTN):c.100257T>C (p.Asp33419=)
|
rs727505046
|
0.00005
|
|
NM_001267550.2(TTN):c.100281C>T (p.Tyr33427=)
|
rs373085562
|
0.00005
|
|
NM_001267550.2(TTN):c.103215C>T (p.Leu34405=)
|
rs748516187
|
0.00005
|
|
NM_001267550.2(TTN):c.12498T>C (p.Ile4166=)
|
rs756194386
|
0.00005
|
|
NM_001267550.2(TTN):c.14935+9C>T
|
rs544241749
|
0.00005
|
|
NM_001267550.2(TTN):c.15453T>C (p.Asn5151=)
|
rs201343844
|
0.00005
|
|
NM_001267550.2(TTN):c.15900C>G (p.Pro5300=)
|
rs377577863
|
0.00005
|
|
NM_001267550.2(TTN):c.16302C>T (p.Ser5434=)
|
rs370615208
|
0.00005
|
|
NM_001267550.2(TTN):c.16622-9C>T
|
rs752362183
|
0.00005
|
|
NM_001267550.2(TTN):c.1830A>G (p.Val610=)
|
rs371660109
|
0.00005
|
|
NM_001267550.2(TTN):c.18432T>C (p.Asn6144=)
|
rs749504085
|
0.00005
|
|
NM_001267550.2(TTN):c.18684T>C (p.Phe6228=)
|
rs368427156
|
0.00005
|
|
NM_001267550.2(TTN):c.19152A>G (p.Pro6384=)
|
rs956813031
|
0.00005
|
|
NM_001267550.2(TTN):c.19962C>T (p.Ser6654=)
|
rs765887722
|
0.00005
|
|
NM_001267550.2(TTN):c.20601C>T (p.Ala6867=)
|
rs374731328
|
0.00005
|
|
NM_001267550.2(TTN):c.20837-13C>T
|
rs375396510
|
0.00005
|
|
NM_001267550.2(TTN):c.22209T>G (p.Thr7403=)
|
rs762942216
|
0.00005
|
|
NM_001267550.2(TTN):c.2274C>T (p.His758=)
|
rs772664968
|
0.00005
|
|
NM_001267550.2(TTN):c.2280C>T (p.Val760=)
|
rs727505021
|
0.00005
|
|
NM_001267550.2(TTN):c.23616C>T (p.Asn7872=)
|
rs181206334
|
0.00005
|
|
NM_001267550.2(TTN):c.23659+20C>G
|
rs367673630
|
0.00005
|
|
NM_001267550.2(TTN):c.24114C>T (p.Asn8038=)
|
rs199576800
|
0.00005
|
|
NM_001267550.2(TTN):c.26133G>A (p.Gly8711=)
|
rs776892690
|
0.00005
|
|
NM_001267550.2(TTN):c.26201-5A>T
|
rs748787500
|
0.00005
|
|
NM_001267550.2(TTN):c.28269A>G (p.Thr9423=)
|
rs550056960
|
0.00005
|
|
NM_001267550.2(TTN):c.28819G>A (p.Val9607Met)
|
rs375807609
|
0.00005
|
|
NM_001267550.2(TTN):c.28971G>A (p.Ser9657=)
|
rs370903846
|
0.00005
|
|
NM_001267550.2(TTN):c.3030C>T (p.Ser1010=)
|
rs374346637
|
0.00005
|
|
NM_001267550.2(TTN):c.30682+13A>G
|
rs767280574
|
0.00005
|
|
NM_001267550.2(TTN):c.30717A>C (p.Lys10239Asn)
|
rs553520141
|
0.00005
|
|
NM_001267550.2(TTN):c.31227T>G (p.Val10409=)
|
rs748539440
|
0.00005
|
|
NM_001267550.2(TTN):c.31847-12T>C
|
rs371372951
|
0.00005
|
|
NM_001267550.2(TTN):c.33340+18C>T
|
rs761691686
|
0.00005
|
|
NM_001267550.2(TTN):c.3380+9A>G
|
rs770149480
|
0.00005
|
|
NM_001267550.2(TTN):c.34260A>G (p.Glu11420=)
|
rs374616513
|
0.00005
|
|
NM_001267550.2(TTN):c.34380G>A (p.Val11460=)
|
rs927151283
|
0.00005
|
|
NM_001267550.2(TTN):c.36254A>G (p.Gln12085Arg)
|
rs183220684
|
0.00005
|
|
NM_001267550.2(TTN):c.36552A>G (p.Glu12184=)
|
rs375396058
|
0.00005
|
|
NM_001267550.2(TTN):c.3798A>C (p.Thr1266=)
|
rs527497634
|
0.00005
|
|
NM_001267550.2(TTN):c.39296-18G>T
|
rs748134833
|
0.00005
|
|
NM_001267550.2(TTN):c.39626-4A>G
|
rs559564145
|
0.00005
|
|
NM_001267550.2(TTN):c.44229G>A (p.Gly14743=)
|
rs376445406
|
0.00005
|
|
NM_001267550.2(TTN):c.44281+16T>G
|
rs375646734
|
0.00005
|
|
NM_001267550.2(TTN):c.44793T>C (p.Thr14931=)
|
rs371321664
|
0.00005
|
|
NM_001267550.2(TTN):c.45594A>T (p.Ala15198=)
|
rs368632402
|
0.00005
|
|
NM_001267550.2(TTN):c.45994C>T (p.Leu15332=)
|
rs765663809
|
0.00005
|
|
NM_001267550.2(TTN):c.46884G>A (p.Lys15628=)
|
rs760251812
|
0.00005
|
|
NM_001267550.2(TTN):c.46967-19C>G
|
rs755875136
|
0.00005
|
|
NM_001267550.2(TTN):c.47196G>C (p.Val15732=)
|
rs369979598
|
0.00005
|
|
NM_001267550.2(TTN):c.48576T>A (p.Val16192=)
|
rs756895677
|
0.00005
|
|
NM_001267550.2(TTN):c.49049-6A>T
|
rs1012199109
|
0.00005
|
|
NM_001267550.2(TTN):c.49465A>C (p.Arg16489=)
|
rs748959693
|
0.00005
|
|
NM_001267550.2(TTN):c.49649-11T>C
|
rs727504474
|
0.00005
|
|
NM_001267550.2(TTN):c.49704A>G (p.Val16568=)
|
rs565691537
|
0.00005
|
|
NM_001267550.2(TTN):c.4998A>T (p.Thr1666=)
|
rs139054950
|
0.00005
|
|
NM_001267550.2(TTN):c.50083C>A (p.Arg16695=)
|
rs751502842
|
0.00005
|
|
NM_001267550.2(TTN):c.50308C>T (p.Leu16770=)
|
rs370782852
|
0.00005
|
|
NM_001267550.2(TTN):c.50385T>C (p.Gly16795=)
|
rs374672630
|
0.00005
|
|
NM_001267550.2(TTN):c.51739+14C>A
|
rs727505018
|
0.00005
|
|
NM_001267550.2(TTN):c.54811+10C>T
|
rs796651993
|
0.00005
|
|
NM_001267550.2(TTN):c.55932T>C (p.Phe18644=)
|
rs755839294
|
0.00005
|
|
NM_001267550.2(TTN):c.56535G>A (p.Thr18845=)
|
rs529480368
|
0.00005
|
|
NM_001267550.2(TTN):c.56871C>T (p.Ser18957=)
|
rs370619063
|
0.00005
|
|
NM_001267550.2(TTN):c.58841T>C (p.Ile19614Thr)
|
rs199933004
|
0.00005
|
|
NM_001267550.2(TTN):c.60221-19T>C
|
rs533551256
|
0.00005
|
|
NM_001267550.2(TTN):c.64672+16G>C
|
rs779727335
|
0.00005
|
|
NM_001267550.2(TTN):c.67104A>C (p.Lys22368Asn)
|
rs727503577
|
0.00005
|
|
NM_001267550.2(TTN):c.67637-4A>G
|
rs376053678
|
0.00005
|
|
NM_001267550.2(TTN):c.69492G>A (p.Val23164=)
|
rs751921225
|
0.00005
|
|
NM_001267550.2(TTN):c.69716-10T>C
|
rs371495009
|
0.00005
|
|
NM_001267550.2(TTN):c.71058G>A (p.Ala23686=)
|
rs375183437
|
0.00005
|
|
NM_001267550.2(TTN):c.72288T>C (p.Asp24096=)
|
rs769898611
|
0.00005
|
|
NM_001267550.2(TTN):c.72552C>T (p.Val24184=)
|
rs727504187
|
0.00005
|
|
NM_001267550.2(TTN):c.73905C>T (p.Leu24635=)
|
rs754045020
|
0.00005
|
|
NM_001267550.2(TTN):c.73914G>A (p.Glu24638=)
|
rs376382707
|
0.00005
|
|
NM_001267550.2(TTN):c.77907C>T (p.Asn25969=)
|
rs375903820
|
0.00005
|
|
NM_001267550.2(TTN):c.82486G>A (p.Asp27496Asn)
|
rs554231442
|
0.00005
|
|
NM_001267550.2(TTN):c.82905G>A (p.Lys27635=)
|
rs1348185820
|
0.00005
|
|
NM_001267550.2(TTN):c.83115C>T (p.Pro27705=)
|
rs747021593
|
0.00005
|
|
NM_001267550.2(TTN):c.83317T>C (p.Leu27773=)
|
rs376683928
|
0.00005
|
|
NM_001267550.2(TTN):c.8788G>A (p.Val2930Ile)
|
rs56373393
|
0.00005
|
|
NM_001267550.2(TTN):c.88106G>T (p.Gly29369Val)
|
rs55898359
|
0.00005
|
|
NM_001267550.2(TTN):c.88281G>A (p.Gly29427=)
|
rs775458117
|
0.00005
|
|
NM_001267550.2(TTN):c.9164-9A>G
|
rs370434818
|
0.00005
|
|
NM_001267550.2(TTN):c.93708C>T (p.Asp31236=)
|
rs560835240
|
0.00005
|
|
NM_001267550.2(TTN):c.94710C>T (p.Thr31570=)
|
rs375185958
|
0.00005
|
|
NM_001267550.2(TTN):c.95130C>A (p.Gly31710=)
|
rs727504857
|
0.00005
|
|
NM_001267550.2(TTN):c.95541T>G (p.Arg31847=)
|
rs749477738
|
0.00005
|
|
NM_001267550.2(TTN):c.97193-20G>A
|
rs780343645
|
0.00005
|
|
NM_001267550.2(TTN):c.99039T>C (p.Asp33013=)
|
rs1037997977
|
0.00005
|
|
NM_001276345.2(TNNT2):c.567C>T (p.Ser189=)
|
rs397516474
|
0.00005
|
|
NM_001276345.2(TNNT2):c.864C>T (p.Arg288=)
|
rs45503195
|
0.00005
|
|
NM_001386795.1(DTNA):c.1002-6T>C
|
rs200208281
|
0.00005
|
|
NM_001386795.1(DTNA):c.1848G>A (p.Thr616=)
|
rs373742103
|
0.00005
|
|
NM_001386795.1(DTNA):c.675G>A (p.Leu225=)
|
rs376519672
|
0.00005
|
|
NM_001458.5(FLNC):c.1210+8G>A
|
rs368892134
|
0.00005
|
|
NM_001458.5(FLNC):c.1211-6C>T
|
rs745834917
|
0.00005
|
|
NM_001458.5(FLNC):c.15C>A (p.Ser5Arg)
|
rs759632330
|
0.00005
|
|
NM_001458.5(FLNC):c.1851A>G (p.Glu617=)
|
rs199715890
|
0.00005
|
|
NM_001458.5(FLNC):c.2041G>A (p.Gly681Ser)
|
rs199705417
|
0.00005
|
|
NM_001458.5(FLNC):c.22T>C (p.Ser8Pro)
|
rs544875797
|
0.00005
|
|
NM_001458.5(FLNC):c.2394C>T (p.Asp798=)
|
rs747802743
|
0.00005
|
|
NM_001458.5(FLNC):c.2490C>T (p.Thr830=)
|
rs777580254
|
0.00005
|
|
NM_001458.5(FLNC):c.3209C>T (p.Pro1070Leu)
|
rs370391049
|
0.00005
|
|
NM_001458.5(FLNC):c.3240C>T (p.Pro1080=)
|
rs570290798
|
0.00005
|
|
NM_001458.5(FLNC):c.3502G>A (p.Gly1168Ser)
|
rs199814952
|
0.00005
|
|
NM_001458.5(FLNC):c.3790+7G>A
|
rs534439574
|
0.00005
|
|
NM_001458.5(FLNC):c.4054C>T (p.Arg1352Cys)
|
rs367931139
|
0.00005
|
|
NM_001458.5(FLNC):c.4254C>T (p.Asp1418=)
|
rs773306584
|
0.00005
|
|
NM_001458.5(FLNC):c.462G>A (p.Glu154=)
|
rs753730559
|
0.00005
|
|
NM_001458.5(FLNC):c.5285G>A (p.Arg1762His)
|
rs779856224
|
0.00005
|
|
NM_001458.5(FLNC):c.5298+13C>G
|
rs1184909389
|
0.00005
|
|
NM_001458.5(FLNC):c.5842+7C>T
|
rs370905549
|
0.00005
|
|
NM_001458.5(FLNC):c.6052C>T (p.Arg2018Cys)
|
rs1335627502
|
0.00005
|
|
NM_001458.5(FLNC):c.6312G>A (p.Glu2104=)
|
rs979412217
|
0.00005
|
|
NM_001458.5(FLNC):c.6450C>T (p.Ile2150=)
|
rs776206819
|
0.00005
|
|
NM_001458.5(FLNC):c.64C>T (p.Pro22Ser)
|
rs368812043
|
0.00005
|
|
NM_001458.5(FLNC):c.6639C>T (p.Val2213=)
|
rs747628268
|
0.00005
|
|
NM_001458.5(FLNC):c.6865G>A (p.Ala2289Thr)
|
rs766740877
|
0.00005
|
|
NM_001458.5(FLNC):c.7111G>A (p.Val2371Ile)
|
rs552252122
|
0.00005
|
|
NM_001458.5(FLNC):c.7437T>C (p.Asp2479=)
|
rs1390623169
|
0.00005
|
|
NM_001458.5(FLNC):c.7781-10C>T
|
rs1425396629
|
0.00005
|
|
NM_001458.5(FLNC):c.942C>T (p.Ile314=)
|
rs746121984
|
0.00005
|
|
NM_001943.5(DSG2):c.1656C>T (p.Thr552=)
|
rs756426150
|
0.00005
|
|
NM_001943.5(DSG2):c.165C>T (p.Pro55=)
|
rs780650457
|
0.00005
|
|
NM_001943.5(DSG2):c.2780C>T (p.Pro927Leu)
|
rs146402368
|
0.00005
|
|
NM_001943.5(DSG2):c.82-19C>G
|
rs746455736
|
0.00005
|
|
NM_001985.3(ETFB):c.216+7A>G
|
rs910583174
|
0.00005
|
|
NM_001985.3(ETFB):c.582G>A (p.Thr194=)
|
rs376679757
|
0.00005
|
|
NM_002230.4(JUP):c.1452C>T (p.Ala484=)
|
rs374831874
|
0.00005
|
|
NM_002230.4(JUP):c.1455C>T (p.Ile485=)
|
rs368692517
|
0.00005
|
|
NM_002230.4(JUP):c.1710C>T (p.Leu570=)
|
rs375801194
|
0.00005
|
|
NM_002230.4(JUP):c.1857C>T (p.Asp619=)
|
rs782623854
|
0.00005
|
|
NM_002230.4(JUP):c.560C>T (p.Ala187Val)
|
rs782370709
|
0.00005
|
|
NM_002230.4(JUP):c.748C>T (p.Leu250=)
|
rs545386394
|
0.00005
|
|
NM_002471.4(MYH6):c.1087A>T (p.Met363Leu)
|
rs202196487
|
0.00005
|
|
NM_002471.4(MYH6):c.1582-7C>T
|
rs374941865
|
0.00005
|
|
NM_002471.4(MYH6):c.2250T>C (p.Ser750=)
|
rs144050960
|
0.00005
|
|
NM_002471.4(MYH6):c.2721C>T (p.Cys907=)
|
rs1014932127
|
0.00005
|
|
NM_002471.4(MYH6):c.3347G>A (p.Arg1116His)
|
rs369247906
|
0.00005
|
|
NM_002471.4(MYH6):c.4650+10G>A
|
rs760975924
|
0.00005
|
|
NM_002471.4(MYH6):c.5077G>A (p.Val1693Met)
|
rs373457153
|
0.00005
|
|
NM_002471.4(MYH6):c.5427A>C (p.Gly1809=)
|
rs149294569
|
0.00005
|
|
NM_002471.4(MYH6):c.5587C>T (p.Leu1863=)
|
rs142767538
|
0.00005
|
|
NM_002471.4(MYH6):c.5661+9A>G
|
rs373908250
|
0.00005
|
|
NM_002633.3(PGM1):c.1257G>A (p.Lys419=)
|
rs371451091
|
0.00005
|
|
NM_003280.3(TNNC1):c.317+8C>T
|
rs767111898
|
0.00005
|
|
NM_003476.5(CSRP3):c.258G>A (p.Glu86=)
|
rs182798086
|
0.00005
|
|
NM_003803.4(MYOM1):c.1398G>A (p.Thr466=)
|
rs373852775
|
0.00005
|
|
NM_003803.4(MYOM1):c.1644-15C>T
|
rs371187763
|
0.00005
|
|
NM_003803.4(MYOM1):c.2232A>G (p.Lys744=)
|
rs767871355
|
0.00005
|
|
NM_003803.4(MYOM1):c.2729C>T (p.Pro910Leu)
|
rs546136269
|
0.00005
|
|
NM_003803.4(MYOM1):c.3010A>G (p.Asn1004Asp)
|
rs543434883
|
0.00005
|
|
NM_003803.4(MYOM1):c.3525T>C (p.Tyr1175=)
|
rs376280596
|
0.00005
|
|
NM_003803.4(MYOM1):c.3865-7A>C
|
rs753615433
|
0.00005
|
|
NM_003803.4(MYOM1):c.4379-4T>G
|
rs755014620
|
0.00005
|
|
NM_003803.4(MYOM1):c.4557C>T (p.Asn1519=)
|
rs369162357
|
0.00005
|
|
NM_004100.5(EYA4):c.1107+13A>C
|
rs775989680
|
0.00005
|
|
NM_004100.5(EYA4):c.278-4G>A
|
rs201806127
|
0.00005
|
|
NM_004281.4(BAG3):c.133C>T (p.Arg45Cys)
|
rs747820097
|
0.00005
|
|
NM_004281.4(BAG3):c.181-10T>C
|
rs765292614
|
0.00005
|
|
NM_004281.4(BAG3):c.822G>A (p.Ser274=)
|
rs776700820
|
0.00005
|
|
NM_004281.4(BAG3):c.872C>T (p.Ser291Leu)
|
rs368866313
|
0.00005
|
|
NM_004415.4(DSP):c.1983T>C (p.Asn661=)
|
rs770735715
|
0.00005
|
|
NM_004415.4(DSP):c.2569G>A (p.Gly857Ser)
|
rs548695484
|
0.00005
|
|
NM_004415.4(DSP):c.3971A>T (p.Asn1324Ile)
|
rs749820299
|
0.00005
|
|
NM_004415.4(DSP):c.5063C>T (p.Ala1688Val)
|
rs372288373
|
0.00005
|
|
NM_004415.4(DSP):c.5555G>A (p.Arg1852His)
|
rs193922669
|
0.00005
|
|
NM_004415.4(DSP):c.6452G>A (p.Arg2151Gln)
|
rs367759510
|
0.00005
|
|
NM_004415.4(DSP):c.6565C>T (p.Arg2189Trp)
|
rs767661570
|
0.00005
|
|
NM_004415.4(DSP):c.6718C>G (p.Gln2240Glu)
|
rs374262024
|
0.00005
|
|
NM_004415.4(DSP):c.727-10T>G
|
rs375327581
|
0.00005
|
|
NM_004415.4(DSP):c.778-20C>T
|
rs762596346
|
0.00005
|
|
NM_004415.4(DSP):c.7964C>G (p.Ala2655Gly)
|
rs193922671
|
0.00005
|
|
NM_004415.4(DSP):c.8281G>A (p.Ala2761Thr)
|
rs376751288
|
0.00005
|
|
NM_004415.4(DSP):c.8462C>T (p.Ser2821Leu)
|
rs201826850
|
0.00005
|
|
NM_004415.4(DSP):c.8507G>A (p.Gly2836Glu)
|
rs764232504
|
0.00005
|
|
NM_004415.4(DSP):c.8524C>T (p.Arg2842Cys)
|
rs144850908
|
0.00005
|
|
NM_004415.4(DSP):c.916G>A (p.Ala306Thr)
|
rs368193211
|
0.00005
|
|
NM_004453.4(ETFDH):c.35-15G>A
|
rs529832630
|
0.00005
|
|
NM_004453.4(ETFDH):c.678A>G (p.Ala226=)
|
rs372865586
|
0.00005
|
|
NM_004517.4(ILK):c.885G>A (p.Val295=)
|
rs767184450
|
0.00005
|
|
NM_004517.4(ILK):c.924A>G (p.Leu308=)
|
rs758354683
|
0.00005
|
|
NM_005343.4(HRAS):c.397C>T (p.Leu133Phe)
|
rs776888712
|
0.00005
|
|
NM_005921.2(MAP3K1):c.917G>A (p.Arg306His)
|
rs375262853
|
0.00005
|
|
NM_006073.4(TRDN):c.1537+17C>T
|
rs369584691
|
0.00005
|
|
NM_006073.4(TRDN):c.94C>T (p.Leu32=)
|
rs755548582
|
0.00005
|
|
NM_006270.5(RRAS):c.495C>T (p.His165=)
|
rs765681955
|
0.00005
|
|
NM_006270.5(RRAS):c.645C>T (p.Cys215=)
|
rs149038492
|
0.00005
|
|
NM_006284.4(TAF10):c.*2692C>T
|
rs201214821
|
0.00005
|
|
NM_006393.3(NEBL):c.1671+12A>C
|
rs77445663
|
0.00005
|
|
NM_006393.3(NEBL):c.2055+7C>T
|
rs368793318
|
0.00005
|
|
NM_006393.3(NEBL):c.2346+19A>G
|
rs376097780
|
0.00005
|
|
NM_006393.3(NEBL):c.2406C>T (p.Asp802=)
|
rs748203517
|
0.00005
|
|
NM_006393.3(NEBL):c.259-8T>C
|
rs753391210
|
0.00005
|
|
NM_006393.3(NEBL):c.2748G>A (p.Pro916=)
|
rs778128527
|
0.00005
|
|
NM_006393.3(NEBL):c.2761+15C>T
|
rs760162209
|
0.00005
|
|
NM_006393.3(NEBL):c.720G>A (p.Lys240=)
|
rs746237029
|
0.00005
|
|
NM_006393.3(NEBL):c.792G>A (p.Ala264=)
|
rs375771045
|
0.00005
|
|
NM_006440.5(TXNRD2):c.1008C>T (p.Pro336=)
|
rs746370708
|
0.00005
|
|
NM_006939.4(SOS2):c.2058-16C>T
|
rs577436233
|
0.00005
|
|
NM_006939.4(SOS2):c.2955G>A (p.Met985Ile)
|
rs367670036
|
0.00005
|
|
NM_006939.4(SOS2):c.3644C>G (p.Thr1215Ser)
|
rs773877975
|
0.00005
|
|
NM_006939.4(SOS2):c.458G>A (p.Arg153Gln)
|
rs779591050
|
0.00005
|
|
NM_012082.4(ZFPM2):c.2262A>G (p.Pro754=)
|
rs369014203
|
0.00005
|
|
NM_013266.4(CTNNA3):c.165C>T (p.Ala55=)
|
rs141527898
|
0.00005
|
|
NM_013266.4(CTNNA3):c.449A>G (p.His150Arg)
|
rs546550340
|
0.00005
|
|
NM_013266.4(CTNNA3):c.867C>G (p.Leu289=)
|
rs149090594
|
0.00005
|
|
NM_014000.3(VCL):c.240-5dup
|
rs779228327
|
0.00005
|
|
NM_014000.3(VCL):c.528C>T (p.Asp176=)
|
rs746453891
|
0.00005
|
|
NM_014476.6(PDLIM3):c.240T>C (p.Ile80=)
|
rs376278294
|
0.00005
|
|
NM_014908.4(DOLK):c.1011A>G (p.Arg337=)
|
rs375939944
|
0.00005
|
|
NM_014908.4(DOLK):c.1597C>T (p.Leu533=)
|
rs199672668
|
0.00005
|
|
NM_014908.4(DOLK):c.33G>A (p.Gly11=)
|
rs375483505
|
0.00005
|
|
NM_014908.4(DOLK):c.435C>T (p.Gly145=)
|
rs781307203
|
0.00005
|
|
NM_015374.3(SUN2):c.1275G>A (p.Leu425=)
|
rs567254059
|
0.00005
|
|
NM_015374.3(SUN2):c.45C>T (p.Asp15=)
|
rs146335558
|
0.00005
|
|
NM_015374.3(SUN2):c.726C>T (p.His242=)
|
rs539723941
|
0.00005
|
|
NM_016203.4(PRKAG2):c.147C>T (p.Asp49=)
|
rs761196275
|
0.00005
|
|
NM_016203.4(PRKAG2):c.1659C>T (p.Ala553=)
|
rs374476363
|
0.00005
|
|
NM_016203.4(PRKAG2):c.696G>A (p.Ala232=)
|
rs781038088
|
0.00005
|
|
NM_020297.4(ABCC9):c.1993G>A (p.Ala665Thr)
|
rs200891785
|
0.00005
|
|
NM_020297.4(ABCC9):c.2867-5T>C
|
rs369841241
|
0.00005
|
|
NM_020297.4(ABCC9):c.4512+7A>G
|
rs371646433
|
0.00005
|
|
NM_020297.4(ABCC9):c.48C>T (p.Asn16=)
|
rs199631710
|
0.00005
|
|
NM_020433.5(JPH2):c.819C>A (p.Ala273=)
|
rs753387666
|
0.00005
|
|
NM_021167.5(GATAD1):c.249+11C>G
|
rs904402772
|
0.00005
|
|
NM_022114.4(PRDM16):c.1800C>T (p.Asp600=)
|
rs375279095
|
0.00005
|
|
NM_022114.4(PRDM16):c.1893C>T (p.Ser631=)
|
rs372411909
|
0.00005
|
|
NM_022114.4(PRDM16):c.1926C>T (p.Ser642=)
|
rs369294573
|
0.00005
|
|
NM_022114.4(PRDM16):c.2034C>T (p.Pro678=)
|
rs371635702
|
0.00005
|
|
NM_022114.4(PRDM16):c.2100C>T (p.Ala700=)
|
rs565237990
|
0.00005
|
|
NM_022114.4(PRDM16):c.2646G>A (p.Leu882=)
|
rs1060504134
|
0.00005
|
|
NM_022114.4(PRDM16):c.3306C>T (p.Asp1102=)
|
rs199800219
|
0.00005
|
|
NM_022114.4(PRDM16):c.3405C>T (p.Ala1135=)
|
rs765114438
|
0.00005
|
|
NM_022114.4(PRDM16):c.762C>T (p.Gly254=)
|
rs763433232
|
0.00005
|
|
NM_024334.3(TMEM43):c.882+17A>G
|
rs370443570
|
0.00005
|
|
NM_032578.4(MYPN):c.1245+16C>T
|
rs377456805
|
0.00005
|
|
NM_032578.4(MYPN):c.1536C>T (p.Cys512=)
|
rs569718340
|
0.00005
|
|
NM_032578.4(MYPN):c.2093A>G (p.Asn698Ser)
|
rs181355189
|
0.00005
|
|
NM_032578.4(MYPN):c.2925+20A>C
|
rs200111945
|
0.00005
|
|
NM_032578.4(MYPN):c.3357C>T (p.His1119=)
|
rs766405779
|
0.00005
|
|
NM_032578.4(MYPN):c.3582C>T (p.Arg1194=)
|
rs139820597
|
0.00005
|
|
NM_033118.4(MYLK2):c.312T>C (p.Pro104=)
|
rs202047576
|
0.00005
|
|
NM_144573.4(NEXN):c.222T>C (p.Ile74=)
|
rs767610015
|
0.00005
|
|
NM_144573.4(NEXN):c.865-5G>A
|
rs727505353
|
0.00005
|
|
NM_152594.3(SPRED1):c.1176G>A (p.Ser392=)
|
rs755223172
|
0.00005
|
|
NM_152594.3(SPRED1):c.685-8T>C
|
rs760690837
|
0.00005
|
|
NM_182914.3(SYNE2):c.1119C>T (p.Leu373=)
|
rs1480808285
|
0.00005
|
|
NM_182914.3(SYNE2):c.11937A>G (p.Leu3979=)
|
rs147744381
|
0.00005
|
|
NM_182914.3(SYNE2):c.13791C>A (p.Gly4597=)
|
rs149350389
|
0.00005
|
|
NM_182914.3(SYNE2):c.14227T>C (p.Leu4743=)
|
rs201872454
|
0.00005
|
|
NM_182914.3(SYNE2):c.14298C>G (p.Thr4766=)
|
rs779655754
|
0.00005
|
|
NM_182914.3(SYNE2):c.16754G>A (p.Arg5585His)
|
rs141144237
|
0.00005
|
|
NM_182914.3(SYNE2):c.1698T>C (p.Asp566=)
|
rs764373442
|
0.00005
|
|
NM_182914.3(SYNE2):c.17713-20A>G
|
rs754951624
|
0.00005
|
|
NM_182914.3(SYNE2):c.1875C>T (p.His625=)
|
rs372968718
|
0.00005
|
|
NM_182914.3(SYNE2):c.19938C>T (p.Thr6646=)
|
rs765762035
|
0.00005
|
|
NM_182914.3(SYNE2):c.2877A>G (p.Gln959=)
|
rs757754481
|
0.00005
|
|
NM_182914.3(SYNE2):c.3532T>C (p.Leu1178=)
|
rs749552415
|
0.00005
|
|
NM_182914.3(SYNE2):c.3885C>T (p.His1295=)
|
rs570341792
|
0.00005
|
|
NM_182914.3(SYNE2):c.4070C>T (p.Thr1357Met)
|
rs769845003
|
0.00005
|
|
NM_182914.3(SYNE2):c.5045T>C (p.Leu1682Pro)
|
rs199668814
|
0.00005
|
|
NM_182914.3(SYNE2):c.80-7T>G
|
rs769250456
|
0.00005
|
|
NM_182961.4(SYNE1):c.1048-4T>C
|
rs894164368
|
0.00005
|
|
NM_182961.4(SYNE1):c.12794+19T>C
|
rs770394935
|
0.00005
|
|
NM_182961.4(SYNE1):c.15917+10C>T
|
rs1434685633
|
0.00005
|
|
NM_182961.4(SYNE1):c.16572+11C>T
|
rs181304168
|
0.00005
|
|
NM_182961.4(SYNE1):c.20898A>G (p.Thr6966=)
|
rs766515787
|
0.00005
|
|
NM_182961.4(SYNE1):c.21862-5T>C
|
rs773382528
|
0.00005
|
|
NM_182961.4(SYNE1):c.23664G>A (p.Gln7888=)
|
rs375008462
|
0.00005
|
|
NM_182961.4(SYNE1):c.23919G>A (p.Thr7973=)
|
rs767628258
|
0.00005
|
|
NM_182961.4(SYNE1):c.25459-7T>G
|
rs367972414
|
0.00005
|
|
NM_182961.4(SYNE1):c.310-459A>G
|
rs371580053
|
0.00005
|
|
NM_182961.4(SYNE1):c.3303T>C (p.Cys1101=)
|
rs369863768
|
0.00005
|
|
NM_182961.4(SYNE1):c.3975G>A (p.Glu1325=)
|
rs372832470
|
0.00005
|
|
NM_182961.4(SYNE1):c.6129G>A (p.Lys2043=)
|
rs1401669271
|
0.00005
|
|
NM_182961.4(SYNE1):c.6231-12T>C
|
rs370687503
|
0.00005
|
|
NM_182961.4(SYNE1):c.8946G>A (p.Gln2982=)
|
rs769033712
|
0.00005
|
|
NM_000018.4(ACADVL):c.1332+10G>A
|
rs763921736
|
0.00004
|
|
NM_000018.4(ACADVL):c.139-20C>T
|
rs374535729
|
0.00004
|
|
NM_000018.4(ACADVL):c.1752-17C>T
|
rs750855741
|
0.00004
|
|
NM_000018.4(ACADVL):c.1857C>T (p.Ala619=)
|
rs375730795
|
0.00004
|
|
NM_000018.4(ACADVL):c.255T>C (p.Asp85=)
|
rs201085520
|
0.00004
|
|
NM_000018.4(ACADVL):c.342+15G>A
|
rs777751102
|
0.00004
|
|
NM_000023.4(SGCA):c.1053C>T (p.Arg351=)
|
rs148373921
|
0.00004
|
|
NM_000023.4(SGCA):c.1155C>T (p.Asp385=)
|
rs183964744
|
0.00004
|
|
NM_000023.4(SGCA):c.158-12C>T
|
rs377120535
|
0.00004
|
|
NM_000023.4(SGCA):c.270C>T (p.Tyr90=)
|
rs749205073
|
0.00004
|
|
NM_000023.4(SGCA):c.584+17A>G
|
rs371673068
|
0.00004
|
|
NM_000023.4(SGCA):c.765G>A (p.Pro255=)
|
rs376216559
|
0.00004
|
|
NM_000023.4(SGCA):c.90A>G (p.Pro30=)
|
rs754840688
|
0.00004
|
|
NM_000116.5(TAFAZZIN):c.543G>A (p.Gly181=)
|
rs782471244
|
0.00004
|
|
NM_000116.5(TAFAZZIN):c.583+10G>A
|
rs370536414
|
0.00004
|
|
NM_000116.5(TAFAZZIN):c.584-7T>C
|
rs397515745
|
0.00004
|
|
NM_000117.3(EMD):c.171C>T (p.Ser57=)
|
rs900267221
|
0.00004
|
|
NM_000117.3(EMD):c.183C>T (p.Phe61=)
|
rs782643028
|
0.00004
|
|
NM_000117.3(EMD):c.30C>G (p.Thr10=)
|
rs145781828
|
0.00004
|
|
NM_000117.3(EMD):c.459C>T (p.Pro153=)
|
rs782147479
|
0.00004
|
|
NM_000117.3(EMD):c.585A>G (p.Ser195=)
|
rs140970151
|
0.00004
|
|
NM_000126.4(ETFA):c.345C>T (p.Phe115=)
|
rs760557143
|
0.00004
|
|
NM_000152.5(GAA):c.1245G>A (p.Thr415=)
|
rs760920034
|
0.00004
|
|
NM_000152.5(GAA):c.138C>T (p.Ser46=)
|
rs753375900
|
0.00004
|
|
NM_000152.5(GAA):c.1416C>T (p.Thr472=)
|
rs368492669
|
0.00004
|
|
NM_000152.5(GAA):c.1491C>T (p.Ala497=)
|
rs373993015
|
0.00004
|
|
NM_000152.5(GAA):c.1629C>T (p.Tyr543=)
|
rs372193105
|
0.00004
|
|
NM_000152.5(GAA):c.1710C>T (p.Asn570=)
|
rs765362308
|
0.00004
|
|
NM_000152.5(GAA):c.1888+8C>T
|
rs772887194
|
0.00004
|
|
NM_000152.5(GAA):c.2151C>T (p.His717=)
|
rs758725073
|
0.00004
|
|
NM_000152.5(GAA):c.246C>T (p.Cys82=)
|
rs749584846
|
0.00004
|
|
NM_000152.5(GAA):c.2647-6G>T
|
rs201525743
|
0.00004
|
|
NM_000152.5(GAA):c.2671C>T (p.Arg891Cys)
|
rs377249041
|
0.00004
|
|
NM_000152.5(GAA):c.618C>T (p.Ser206=)
|
rs146292898
|
0.00004
|
|
NM_000152.5(GAA):c.762G>A (p.Ser254=)
|
rs533960093
|
0.00004
|
|
NM_000152.5(GAA):c.858+17C>T
|
rs371980868
|
0.00004
|
|
NM_000152.5(GAA):c.861C>T (p.Pro287=)
|
rs778580823
|
0.00004
|
|
NM_000152.5(GAA):c.912C>T (p.Gly304=)
|
rs368741815
|
0.00004
|
|
NM_000182.5(HADHA):c.1086-12C>T
|
rs767692992
|
0.00004
|
|
NM_000182.5(HADHA):c.1141G>A (p.Val381Met)
|
rs764067083
|
0.00004
|
|
NM_000182.5(HADHA):c.1209A>G (p.Gln403=)
|
rs780178287
|
0.00004
|
|
NM_000182.5(HADHA):c.1542C>T (p.Thr514=)
|
rs374189575
|
0.00004
|
|
NM_000182.5(HADHA):c.1554C>A (p.Ser518=)
|
rs765162716
|
0.00004
|
|
NM_000182.5(HADHA):c.1788G>A (p.Ala596=)
|
rs190409957
|
0.00004
|
|
NM_000182.5(HADHA):c.504A>G (p.Val168=)
|
rs1004279547
|
0.00004
|
|
NM_000182.5(HADHA):c.585T>A (p.Pro195=)
|
rs202034466
|
0.00004
|
|
NM_000182.5(HADHA):c.858G>A (p.Val286=)
|
rs373864418
|
0.00004
|
|
NM_000231.3(SGCG):c.303A>C (p.Ser101=)
|
rs144277094
|
0.00004
|
|
NM_000231.3(SGCG):c.642C>T (p.His214=)
|
rs528994151
|
0.00004
|
|
NM_000231.3(SGCG):c.708G>A (p.Val236=)
|
rs899136360
|
0.00004
|
|
NM_000232.5(SGCB):c.282A>G (p.Pro94=)
|
rs746957769
|
0.00004
|
|
NM_000232.5(SGCB):c.33+16C>A
|
rs765157791
|
0.00004
|
|
NM_000232.5(SGCB):c.369T>C (p.Tyr123=)
|
rs371706268
|
0.00004
|
|
NM_000232.5(SGCB):c.430-4G>T
|
rs989155710
|
0.00004
|
|
NM_000232.5(SGCB):c.708C>T (p.Gly236=)
|
rs770295146
|
0.00004
|
|
NM_000232.5(SGCB):c.744G>A (p.Glu248=)
|
rs778608103
|
0.00004
|
|
NM_000232.5(SGCB):c.789C>T (p.Val263=)
|
rs371225165
|
0.00004
|
|
NM_000232.5(SGCB):c.795C>G (p.Thr265=)
|
rs1490370240
|
0.00004
|
|
NM_000232.5(SGCB):c.939C>T (p.Pro313=)
|
rs375438506
|
0.00004
|
|
NM_000256.3(MYBPC3):c.1056C>G (p.Leu352=)
|
rs375007425
|
0.00004
|
|
NM_000256.3(MYBPC3):c.1152C>T (p.Thr384=)
|
rs775237084
|
0.00004
|
|
NM_000256.3(MYBPC3):c.1370C>T (p.Thr457Met)
|
rs370538243
|
0.00004
|
|
NM_000256.3(MYBPC3):c.1434G>A (p.Ser478=)
|
rs770568659
|
0.00004
|
|
NM_000256.3(MYBPC3):c.1457+18G>A
|
rs746705622
|
0.00004
|
|
NM_000256.3(MYBPC3):c.150C>T (p.Ser50=)
|
rs368918487
|
0.00004
|
|
NM_000256.3(MYBPC3):c.1518C>T (p.Asp506=)
|
rs397515908
|
0.00004
|
|
NM_000256.3(MYBPC3):c.1590C>T (p.Ser530=)
|
rs763905291
|
0.00004
|
|
NM_000256.3(MYBPC3):c.1914C>T (p.Phe638=)
|
rs377227442
|
0.00004
|
|
NM_000256.3(MYBPC3):c.1968A>G (p.Pro656=)
|
rs397515940
|
0.00004
|
|
NM_000256.3(MYBPC3):c.2149-8C>G
|
rs397515950
|
0.00004
|
|
NM_000256.3(MYBPC3):c.2319C>T (p.Asp773=)
|
rs397515962
|
0.00004
|
|
NM_000256.3(MYBPC3):c.2381C>T (p.Pro794Leu)
|
rs730880565
|
0.00004
|
|
NM_000256.3(MYBPC3):c.2517C>T (p.Gly839=)
|
rs370561202
|
0.00004
|
|
NM_000256.3(MYBPC3):c.2603-11C>T
|
rs11570105
|
0.00004
|
|
NM_000256.3(MYBPC3):c.2640C>T (p.Asp880=)
|
rs397515980
|
0.00004
|
|
NM_000256.3(MYBPC3):c.270C>T (p.Phe90=)
|
rs367990952
|
0.00004
|
|
NM_000256.3(MYBPC3):c.2886G>A (p.Val962=)
|
rs369685402
|
0.00004
|
|
NM_000256.3(MYBPC3):c.2895G>A (p.Gln965=)
|
rs1057524069
|
0.00004
|
|
NM_000256.3(MYBPC3):c.2906-9T>C
|
rs373248202
|
0.00004
|
|
NM_000256.3(MYBPC3):c.3137C>T (p.Thr1046Met)
|
rs371061770
|
0.00004
|
|
NM_000256.3(MYBPC3):c.3297G>A (p.Gly1099=)
|
rs371301665
|
0.00004
|
|
NM_000256.3(MYBPC3):c.3573G>A (p.Ser1191=)
|
rs371488508
|
0.00004
|
|
NM_000256.3(MYBPC3):c.3581C>T (p.Ala1194Val)
|
rs730880594
|
0.00004
|
|
NM_000256.3(MYBPC3):c.540C>T (p.Gly180=)
|
rs371842442
|
0.00004
|
|
NM_000256.3(MYBPC3):c.630C>T (p.His210=)
|
rs762695516
|
0.00004
|
|
NM_000256.3(MYBPC3):c.645C>T (p.Arg215=)
|
rs397516064
|
0.00004
|
|
NM_000256.3(MYBPC3):c.772+17G>A
|
rs546530742
|
0.00004
|
|
NM_000256.3(MYBPC3):c.82G>A (p.Val28Met)
|
rs776834755
|
0.00004
|
|
NM_000257.4(MYH7):c.1266T>C (p.Tyr422=)
|
rs141519877
|
0.00004
|
|
NM_000257.4(MYH7):c.12G>A (p.Ser4=)
|
rs45561941
|
0.00004
|
|
NM_000257.4(MYH7):c.1332T>C (p.Asn444=)
|
rs397516099
|
0.00004
|
|
NM_000257.4(MYH7):c.1341G>A (p.Leu447=)
|
rs1322172502
|
0.00004
|
|
NM_000257.4(MYH7):c.1365C>T (p.Tyr455=)
|
rs1025444130
|
0.00004
|
|
NM_000257.4(MYH7):c.1368C>T (p.Phe456=)
|
rs766216871
|
0.00004
|
|
NM_000257.4(MYH7):c.1482T>C (p.Phe494=)
|
rs587781088
|
0.00004
|
|
NM_000257.4(MYH7):c.2637C>T (p.Ser879=)
|
rs199915408
|
0.00004
|
|
NM_000257.4(MYH7):c.28G>C (p.Gly10Arg)
|
rs199577321
|
0.00004
|
|
NM_000257.4(MYH7):c.3261G>A (p.Leu1087=)
|
rs371937608
|
0.00004
|
|
NM_000257.4(MYH7):c.3270C>T (p.Leu1090=)
|
rs760840698
|
0.00004
|
|
NM_000257.4(MYH7):c.372C>T (p.Thr124=)
|
rs755855267
|
0.00004
|
|
NM_000257.4(MYH7):c.3771T>C (p.Asn1257=)
|
rs375219617
|
0.00004
|
|
NM_000257.4(MYH7):c.3854-14T>G
|
rs371212384
|
0.00004
|
|
NM_000257.4(MYH7):c.3993C>T (p.His1331=)
|
rs200288088
|
0.00004
|
|
NM_000257.4(MYH7):c.4077C>T (p.Arg1359=)
|
rs45523835
|
0.00004
|
|
NM_000257.4(MYH7):c.4083T>G (p.Leu1361=)
|
rs754295295
|
0.00004
|
|
NM_000257.4(MYH7):c.4158C>T (p.Leu1386=)
|
rs886050418
|
0.00004
|
|
NM_000257.4(MYH7):c.4410G>A (p.Ser1470=)
|
rs578166720
|
0.00004
|
|
NM_000257.4(MYH7):c.4458C>T (p.Asn1486=)
|
rs571704020
|
0.00004
|
|
NM_000257.4(MYH7):c.4520-15G>A
|
rs200886528
|
0.00004
|
|
NM_000257.4(MYH7):c.4605C>T (p.Ala1535=)
|
rs746261895
|
0.00004
|
|
NM_000257.4(MYH7):c.4827C>T (p.Asn1609=)
|
rs587781085
|
0.00004
|
|
NM_000257.4(MYH7):c.4893C>T (p.His1631=)
|
rs369164804
|
0.00004
|
|
NM_000257.4(MYH7):c.503-5C>T
|
rs397516236
|
0.00004
|
|
NM_000257.4(MYH7):c.5115G>A (p.Glu1705=)
|
rs397516239
|
0.00004
|
|
NM_000257.4(MYH7):c.5253T>C (p.Ala1751=)
|
rs776282574
|
0.00004
|
|
NM_000257.4(MYH7):c.5560-7C>T
|
rs778224065
|
0.00004
|
|
NM_000257.4(MYH7):c.5790+14T>A
|
rs370553746
|
0.00004
|
|
NM_000257.4(MYH7):c.633G>A (p.Pro211=)
|
rs587781087
|
0.00004
|
|
NM_000257.4(MYH7):c.640-18C>T
|
rs776778917
|
0.00004
|
|
NM_000257.4(MYH7):c.924C>T (p.Tyr308=)
|
rs762065412
|
0.00004
|
|
NM_000258.3(MYL3):c.158-10C>T
|
rs765419653
|
0.00004
|
|
NM_000258.3(MYL3):c.246G>A (p.Ala82=)
|
rs368364468
|
0.00004
|
|
NM_000258.3(MYL3):c.307+17A>G
|
rs1302011738
|
0.00004
|
|
NM_000337.6(SGCD):c.295-10C>G
|
rs1334538970
|
0.00004
|
|
NM_000337.6(SGCD):c.393C>T (p.Ala131=)
|
rs397517922
|
0.00004
|
|
NM_000337.6(SGCD):c.4-12C>T
|
rs727504580
|
0.00004
|
|
NM_000337.6(SGCD):c.756G>A (p.Thr252=)
|
rs756467431
|
0.00004
|
|
NM_000363.5(TNNI3):c.303C>T (p.His101=)
|
rs199539066
|
0.00004
|
|
NM_000363.5(TNNI3):c.372+7C>T
|
rs367809676
|
0.00004
|
|
NM_000363.5(TNNI3):c.6G>A (p.Ala2=)
|
rs397516361
|
0.00004
|
|
NM_000371.4(TTR):c.375C>T (p.Tyr125=)
|
rs749079577
|
0.00004
|
|
NM_000432.4(MYL2):c.169+18G>C
|
rs375152116
|
0.00004
|
|
NM_000432.4(MYL2):c.353+16G>A
|
rs572363699
|
0.00004
|
|
NM_001005242.3(PKP2):c.12C>T (p.Pro4=)
|
rs397516991
|
0.00004
|
|
NM_001005242.3(PKP2):c.1378+18T>C
|
rs374266697
|
0.00004
|
|
NM_001005242.3(PKP2):c.1379-1967_1379-1966del
|
rs1491439367
|
0.00004
|
|
NM_001005242.3(PKP2):c.1379-1968C>G
|
rs754530494
|
0.00004
|
|
NM_001005242.3(PKP2):c.1379-1997G>A
|
rs781072699
|
0.00004
|
|
NM_001005242.3(PKP2):c.1379-2020G>A
|
rs1415117420
|
0.00004
|
|
NM_001005242.3(PKP2):c.1452G>A (p.Thr484=)
|
rs727504098
|
0.00004
|
|
NM_001005242.3(PKP2):c.1464C>T (p.Ile488=)
|
rs145387575
|
0.00004
|
|
NM_001005242.3(PKP2):c.1556+18C>G
|
rs370617388
|
0.00004
|
|
NM_001005242.3(PKP2):c.1575C>T (p.Gly525=)
|
rs780049494
|
0.00004
|
|
NM_001005242.3(PKP2):c.1608C>T (p.Asp536=)
|
rs397517006
|
0.00004
|
|
NM_001005242.3(PKP2):c.1965A>G (p.Gln655=)
|
rs727505293
|
0.00004
|
|
NM_001005242.3(PKP2):c.2018C>T (p.Pro673Leu)
|
rs144018320
|
0.00004
|
|
NM_001005242.3(PKP2):c.2019G>A (p.Pro673=)
|
rs147995773
|
0.00004
|
|
NM_001005242.3(PKP2):c.2121G>A (p.Ser707=)
|
rs139098675
|
0.00004
|
|
NM_001005242.3(PKP2):c.213C>T (p.Ser71=)
|
rs1173618581
|
0.00004
|
|
NM_001005242.3(PKP2):c.2233A>G (p.Ile745Val)
|
rs551045165
|
0.00004
|
|
NM_001005242.3(PKP2):c.468G>A (p.Pro156=)
|
rs756166702
|
0.00004
|
|
NM_001005242.3(PKP2):c.714G>A (p.Pro238=)
|
rs727503372
|
0.00004
|
|
NM_001005242.3(PKP2):c.789G>A (p.Thr263=)
|
rs760432217
|
0.00004
|
|
NM_001005242.3(PKP2):c.953A>C (p.His318Pro)
|
rs181098323
|
0.00004
|
|
NM_001005242.3(PKP2):c.963C>T (p.Val321=)
|
rs202207343
|
0.00004
|
|
NM_001018005.2(TPM1):c.687C>T (p.Ser229=)
|
rs759362606
|
0.00004
|
|
NM_001018005.2(TPM1):c.783C>T (p.Tyr261=)
|
rs751001221
|
0.00004
|
|
NM_001018005.2(TPM1):c.851+7G>A
|
rs765721221
|
0.00004
|
|
NM_001035.3(RYR2):c.10035G>A (p.Arg3345=)
|
rs754976419
|
0.00004
|
|
NM_001035.3(RYR2):c.1005+7C>T
|
rs774100182
|
0.00004
|
|
NM_001035.3(RYR2):c.10452G>T (p.Gly3484=)
|
rs199498105
|
0.00004
|
|
NM_001035.3(RYR2):c.10495-14A>G
|
rs727505057
|
0.00004
|
|
NM_001035.3(RYR2):c.1068C>T (p.Tyr356=)
|
rs776823422
|
0.00004
|
|
NM_001035.3(RYR2):c.11115C>T (p.Asp3705=)
|
rs752297019
|
0.00004
|
|
NM_001035.3(RYR2):c.11476+10A>C
|
rs794728702
|
0.00004
|
|
NM_001035.3(RYR2):c.11476+14dup
|
rs780419779
|
0.00004
|
|
NM_001035.3(RYR2):c.11557+15G>A
|
rs761490797
|
0.00004
|
|
NM_001035.3(RYR2):c.11647-16C>A
|
rs369311028
|
0.00004
|
|
NM_001035.3(RYR2):c.1207A>C (p.Ile403Leu)
|
rs142797573
|
0.00004
|
|
NM_001035.3(RYR2):c.12084G>A (p.Ser4028=)
|
rs751821960
|
0.00004
|
|
NM_001035.3(RYR2):c.12207T>C (p.Cys4069=)
|
rs756280887
|
0.00004
|
|
NM_001035.3(RYR2):c.12276G>A (p.Lys4092=)
|
rs974833291
|
0.00004
|
|
NM_001035.3(RYR2):c.12664G>A (p.Glu4222Lys)
|
rs758453646
|
0.00004
|
|
NM_001035.3(RYR2):c.12837G>A (p.Met4279Ile)
|
rs750117613
|
0.00004
|
|
NM_001035.3(RYR2):c.12859T>C (p.Tyr4287His)
|
rs190009333
|
0.00004
|
|
NM_001035.3(RYR2):c.13293A>G (p.Glu4431=)
|
rs778248995
|
0.00004
|
|
NM_001035.3(RYR2):c.13398C>T (p.His4466=)
|
rs373913909
|
0.00004
|
|
NM_001035.3(RYR2):c.13913+17A>G
|
rs371894104
|
0.00004
|
|
NM_001035.3(RYR2):c.1574C>G (p.Ser525Cys)
|
rs776188922
|
0.00004
|
|
NM_001035.3(RYR2):c.2512C>G (p.Arg838Gly)
|
rs1407524067
|
0.00004
|
|
NM_001035.3(RYR2):c.2545G>A (p.Asp849Asn)
|
rs372569289
|
0.00004
|
|
NM_001035.3(RYR2):c.2629C>T (p.His877Tyr)
|
rs372575878
|
0.00004
|
|
NM_001035.3(RYR2):c.2718+19T>C
|
rs773320230
|
0.00004
|
|
NM_001035.3(RYR2):c.294+15G>A
|
rs750047302
|
0.00004
|
|
NM_001035.3(RYR2):c.3372G>A (p.Pro1124=)
|
rs368017980
|
0.00004
|
|
NM_001035.3(RYR2):c.3397C>T (p.Arg1133Cys)
|
rs748085424
|
0.00004
|
|
NM_001035.3(RYR2):c.3423+10C>A
|
rs876657577
|
0.00004
|
|
NM_001035.3(RYR2):c.385-14T>C
|
rs372287944
|
0.00004
|
|
NM_001035.3(RYR2):c.3896T>C (p.Ile1299Thr)
|
rs772551383
|
0.00004
|
|
NM_001035.3(RYR2):c.4160+7A>G
|
rs377465289
|
0.00004
|
|
NM_001035.3(RYR2):c.463+18C>T
|
rs756719910
|
0.00004
|
|
NM_001035.3(RYR2):c.464-12G>A
|
rs766779504
|
0.00004
|
|
NM_001035.3(RYR2):c.4707A>G (p.Gly1569=)
|
rs761012789
|
0.00004
|
|
NM_001035.3(RYR2):c.4875G>A (p.Leu1625=)
|
rs369323506
|
0.00004
|
|
NM_001035.3(RYR2):c.5004G>A (p.Gly1668=)
|
rs371085573
|
0.00004
|
|
NM_001035.3(RYR2):c.5238C>T (p.His1746=)
|
rs371966699
|
0.00004
|
|
NM_001035.3(RYR2):c.5508C>T (p.Asn1836=)
|
rs777640285
|
0.00004
|
|
NM_001035.3(RYR2):c.5515T>C (p.Leu1839=)
|
rs375521843
|
0.00004
|
|
NM_001035.3(RYR2):c.5550G>A (p.Val1850=)
|
rs764164889
|
0.00004
|
|
NM_001035.3(RYR2):c.5588C>T (p.Thr1863Met)
|
rs770863319
|
0.00004
|
|
NM_001035.3(RYR2):c.5593G>A (p.Glu1865Lys)
|
rs553819263
|
0.00004
|
|
NM_001035.3(RYR2):c.5637T>C (p.Gly1879=)
|
rs751554639
|
0.00004
|
|
NM_001035.3(RYR2):c.5923A>G (p.Met1975Val)
|
rs200318013
|
0.00004
|
|
NM_001035.3(RYR2):c.601T>C (p.Leu201=)
|
rs752523583
|
0.00004
|
|
NM_001035.3(RYR2):c.6046T>A (p.Ser2016Thr)
|
rs575248331
|
0.00004
|
|
NM_001035.3(RYR2):c.6279C>T (p.Asp2093=)
|
rs771328006
|
0.00004
|
|
NM_001035.3(RYR2):c.6433G>C (p.Gly2145Arg)
|
rs587782974
|
0.00004
|
|
NM_001035.3(RYR2):c.677-13T>G
|
rs571476497
|
0.00004
|
|
NM_001035.3(RYR2):c.6780G>A (p.Pro2260=)
|
rs758855412
|
0.00004
|
|
NM_001035.3(RYR2):c.7428T>C (p.Tyr2476=)
|
rs770823825
|
0.00004
|
|
NM_001035.3(RYR2):c.7623C>T (p.His2541=)
|
rs753435083
|
0.00004
|
|
NM_001035.3(RYR2):c.8181C>T (p.His2727=)
|
rs746562398
|
0.00004
|
|
NM_001035.3(RYR2):c.8309T>C (p.Ile2770Thr)
|
rs397516550
|
0.00004
|
|
NM_001035.3(RYR2):c.8436+15C>T
|
rs536793514
|
0.00004
|
|
NM_001035.3(RYR2):c.8591-8A>G
|
rs1369273531
|
0.00004
|
|
NM_001035.3(RYR2):c.9435T>C (p.Ser3145=)
|
rs774657844
|
0.00004
|
|
NM_001035.3(RYR2):c.9450-17G>A
|
rs575213280
|
0.00004
|
|
NM_001035.3(RYR2):c.950T>C (p.Met317Thr)
|
rs367601258
|
0.00004
|
|
NM_001035.3(RYR2):c.9736A>G (p.Met3246Val)
|
rs745839689
|
0.00004
|
|
NM_001035.3(RYR2):c.9783C>T (p.Ala3261=)
|
rs370556829
|
0.00004
|
|
NM_001035.3(RYR2):c.982G>A (p.Ala328Thr)
|
rs201669522
|
0.00004
|
|
NM_001103.4(ACTN2):c.1307A>C (p.Glu436Ala)
|
rs199955427
|
0.00004
|
|
NM_001103.4(ACTN2):c.1773C>G (p.Ile591Met)
|
rs771302220
|
0.00004
|
|
NM_001103.4(ACTN2):c.1862G>A (p.Arg621His)
|
rs368040932
|
0.00004
|
|
NM_001103.4(ACTN2):c.1899T>G (p.His633Gln)
|
rs727505112
|
0.00004
|
|
NM_001103.4(ACTN2):c.2052C>T (p.Asn684=)
|
rs202135204
|
0.00004
|
|
NM_001103.4(ACTN2):c.2376C>T (p.Ala792=)
|
rs369320952
|
0.00004
|
|
NM_001103.4(ACTN2):c.2412C>T (p.Asn804=)
|
rs201700660
|
0.00004
|
|
NM_001103.4(ACTN2):c.2445C>T (p.Ile815=)
|
rs397516575
|
0.00004
|
|
NM_001103.4(ACTN2):c.2446G>A (p.Asp816Asn)
|
rs1057522840
|
0.00004
|
|
NM_001103.4(ACTN2):c.2552G>A (p.Arg851His)
|
rs201335965
|
0.00004
|
|
NM_001103.4(ACTN2):c.2658C>T (p.Ser886=)
|
rs143297401
|
0.00004
|
|
NM_001103.4(ACTN2):c.362-8A>C
|
rs780432522
|
0.00004
|
|
NM_001103.4(ACTN2):c.48G>A (p.Glu16=)
|
rs397516580
|
0.00004
|
|
NM_001103.4(ACTN2):c.642G>A (p.Leu214=)
|
rs558330657
|
0.00004
|
|
NM_001103.4(ACTN2):c.795G>A (p.Ala265=)
|
rs757253639
|
0.00004
|
|
NM_001105206.3(LAMA4):c.1224G>A (p.Glu408=)
|
rs782282356
|
0.00004
|
|
NM_001105206.3(LAMA4):c.1357+15C>G
|
rs782734095
|
0.00004
|
|
NM_001105206.3(LAMA4):c.1552-4G>A
|
rs368746644
|
0.00004
|
|
NM_001105206.3(LAMA4):c.1842C>T (p.Asn614=)
|
rs782388698
|
0.00004
|
|
NM_001105206.3(LAMA4):c.2056+12C>T
|
rs397516722
|
0.00004
|
|
NM_001105206.3(LAMA4):c.2097T>C (p.Gly699=)
|
rs1271082359
|
0.00004
|
|
NM_001105206.3(LAMA4):c.3165C>T (p.Ser1055=)
|
rs782303510
|
0.00004
|
|
NM_001105206.3(LAMA4):c.3246A>G (p.Pro1082=)
|
rs782387031
|
0.00004
|
|
NM_001105206.3(LAMA4):c.3661C>G (p.Leu1221Val)
|
rs201141955
|
0.00004
|
|
NM_001105206.3(LAMA4):c.4171T>C (p.Tyr1391His)
|
rs201094782
|
0.00004
|
|
NM_001105206.3(LAMA4):c.4602T>C (p.Asn1534=)
|
rs139209703
|
0.00004
|
|
NM_001105206.3(LAMA4):c.4982-15T>C
|
rs373103456
|
0.00004
|
|
NM_001105206.3(LAMA4):c.513C>T (p.Pro171=)
|
rs140249081
|
0.00004
|
|
NM_001105206.3(LAMA4):c.5412C>T (p.Ser1804=)
|
rs782333012
|
0.00004
|
|
NM_001105206.3(LAMA4):c.5439C>T (p.Gly1813=)
|
rs147579862
|
0.00004
|
|
NM_001105206.3(LAMA4):c.693C>T (p.Asp231=)
|
rs370231631
|
0.00004
|
|
NM_001105206.3(LAMA4):c.967-16A>G
|
rs80110492
|
0.00004
|
|
NM_001122630.2(CDKN1C):c.294C>G (p.Val98=)
|
rs932963247
|
0.00004
|
|
NM_001122630.2(CDKN1C):c.450T>A (p.Ala150=)
|
rs898729531
|
0.00004
|
|
NM_001122630.2(CDKN1C):c.534T>C (p.Ala178=)
|
rs112196492
|
0.00004
|
|
NM_001122630.2(CDKN1C):c.579G>A (p.Pro193=)
|
rs794726872
|
0.00004
|
|
NM_001122630.2(CDKN1C):c.597C>G (p.Pro199=)
|
rs767656648
|
0.00004
|
|
NM_001122630.2(CDKN1C):c.699G>C (p.Ser233=)
|
rs751650132
|
0.00004
|
|
NM_001130965.3(SUN1):c.1455A>G (p.Leu485=)
|
rs1025148320
|
0.00004
|
|
NM_001130965.3(SUN1):c.1683C>T (p.Asn561=)
|
rs775680958
|
0.00004
|
|
NM_001130965.3(SUN1):c.180G>A (p.Thr60=)
|
rs775796501
|
0.00004
|
|
NM_001130965.3(SUN1):c.1902C>T (p.Tyr634=)
|
rs770512687
|
0.00004
|
|
NM_001130965.3(SUN1):c.2010A>G (p.Ala670=)
|
rs765841616
|
0.00004
|
|
NM_001130965.3(SUN1):c.2238C>T (p.Ala746=)
|
rs199630068
|
0.00004
|
|
NM_001130965.3(SUN1):c.408C>T (p.Asp136=)
|
rs575219579
|
0.00004
|
|
NM_001130965.3(SUN1):c.72G>A (p.Ala24=)
|
rs560089031
|
0.00004
|
|
NM_001130965.3(SUN1):c.873G>A (p.Lys291=)
|
rs373974517
|
0.00004
|
|
NM_001134363.3(RBM20):c.1128C>T (p.Ile376=)
|
rs996751865
|
0.00004
|
|
NM_001134363.3(RBM20):c.1180C>T (p.Leu394=)
|
rs1471409886
|
0.00004
|
|
NM_001134363.3(RBM20):c.1244G>A (p.Ser415Asn)
|
rs748133931
|
0.00004
|
|
NM_001134363.3(RBM20):c.1338-11G>A
|
rs372064165
|
0.00004
|
|
NM_001134363.3(RBM20):c.1458C>T (p.Tyr486=)
|
rs397516594
|
0.00004
|
|
NM_001134363.3(RBM20):c.1553G>A (p.Arg518His)
|
rs762725902
|
0.00004
|
|
NM_001134363.3(RBM20):c.1767G>T (p.Arg589=)
|
rs929489764
|
0.00004
|
|
NM_001134363.3(RBM20):c.1791G>A (p.Leu597=)
|
rs201432122
|
0.00004
|
|
NM_001134363.3(RBM20):c.1806C>T (p.Pro602=)
|
rs367567507
|
0.00004
|
|
NM_001134363.3(RBM20):c.1814C>T (p.Ala605Val)
|
rs754805893
|
0.00004
|
|
NM_001134363.3(RBM20):c.1881-19C>T
|
rs574049321
|
0.00004
|
|
NM_001134363.3(RBM20):c.2200C>T (p.Arg734Trp)
|
rs199972578
|
0.00004
|
|
NM_001134363.3(RBM20):c.2357A>G (p.Asp786Gly)
|
rs561904103
|
0.00004
|
|
NM_001134363.3(RBM20):c.2371C>T (p.Arg791Trp)
|
rs529403382
|
0.00004
|
|
NM_001134363.3(RBM20):c.247C>A (p.Leu83Ile)
|
rs536357058
|
0.00004
|
|
NM_001134363.3(RBM20):c.2518G>A (p.Asp840Asn)
|
rs1029261119
|
0.00004
|
|
NM_001134363.3(RBM20):c.2916G>A (p.Gly972=)
|
rs1391384955
|
0.00004
|
|
NM_001134363.3(RBM20):c.2991G>A (p.Val997=)
|
rs756276591
|
0.00004
|
|
NM_001134363.3(RBM20):c.305G>A (p.Arg102Gln)
|
rs886046699
|
0.00004
|
|
NM_001134363.3(RBM20):c.3204C>G (p.Thr1068=)
|
rs746444255
|
0.00004
|
|
NM_001134363.3(RBM20):c.3266C>G (p.Pro1089Arg)
|
rs772708424
|
0.00004
|
|
NM_001134363.3(RBM20):c.3344C>T (p.Ser1115Phe)
|
rs769531546
|
0.00004
|
|
NM_001134363.3(RBM20):c.3544C>T (p.Arg1182Cys)
|
rs1171816793
|
0.00004
|
|
NM_001134363.3(RBM20):c.3574-6C>G
|
rs762069628
|
0.00004
|
|
NM_001134363.3(RBM20):c.3594C>T (p.Ala1198=)
|
rs758908115
|
0.00004
|
|
NM_001134363.3(RBM20):c.363C>T (p.Asn121=)
|
rs727504930
|
0.00004
|
|
NM_001134363.3(RBM20):c.3649G>A (p.Gly1217Arg)
|
rs867232627
|
0.00004
|
|
NM_001134363.3(RBM20):c.441C>T (p.His147=)
|
rs397516619
|
0.00004
|
|
NM_001134363.3(RBM20):c.533G>A (p.Arg178Gln)
|
rs561085365
|
0.00004
|
|
NM_001134363.3(RBM20):c.57G>T (p.Pro19=)
|
rs781263787
|
0.00004
|
|
NM_001134363.3(RBM20):c.613C>A (p.Gln205Lys)
|
rs779777625
|
0.00004
|
|
NM_001134363.3(RBM20):c.704G>T (p.Ser235Ile)
|
rs1303400859
|
0.00004
|
|
NM_001134363.3(RBM20):c.801C>T (p.Tyr267=)
|
rs879437834
|
0.00004
|
|
NM_001134363.3(RBM20):c.933G>C (p.Leu311=)
|
rs761015603
|
0.00004
|
|
NM_001134363.3(RBM20):c.99G>C (p.Pro33=)
|
rs921066961
|
0.00004
|
|
NM_001159699.2(FHL1):c.243C>T (p.Cys81=)
|
rs777580253
|
0.00004
|
|
NM_001159699.2(FHL1):c.651C>T (p.Thr217=)
|
rs370597064
|
0.00004
|
|
NM_001159699.2(FHL1):c.737-10T>C
|
rs767421819
|
0.00004
|
|
NM_001161403.3(LIMS2):c.198C>T (p.His66=)
|
rs371757451
|
0.00004
|
|
NM_001161403.3(LIMS2):c.468C>T (p.Ser156=)
|
rs772862811
|
0.00004
|
|
NM_001161403.3(LIMS2):c.510-13C>T
|
rs368236220
|
0.00004
|
|
NM_001161403.3(LIMS2):c.636G>A (p.Ala212=)
|
rs539730681
|
0.00004
|
|
NM_001232.4(CASQ2):c.606+12T>C
|
rs763932609
|
0.00004
|
|
NM_001232.4(CASQ2):c.738-16_738-15insC
|
rs747358070
|
0.00004
|
|
NM_001232.4(CASQ2):c.924G>A (p.Pro308=)
|
rs761798969
|
0.00004
|
|
NM_001256850.1(TTN):c.33664+8A>G
|
rs775606653
|
0.00004
|
|
NM_001256850.1(TTN):c.35189-4A>G
|
rs781589169
|
0.00004
|
|
NM_001267550.2(TTN):c.10050G>A (p.Pro3350=)
|
rs759936737
|
0.00004
|
|
NM_001267550.2(TTN):c.101037G>A (p.Gln33679=)
|
rs377190399
|
0.00004
|
|
NM_001267550.2(TTN):c.102549C>T (p.Tyr34183=)
|
rs761394437
|
0.00004
|
|
NM_001267550.2(TTN):c.102966T>C (p.Ser34322=)
|
rs200172231
|
0.00004
|
|
NM_001267550.2(TTN):c.10304-17G>T
|
rs1273259781
|
0.00004
|
|
NM_001267550.2(TTN):c.104262G>A (p.Ala34754=)
|
rs571631837
|
0.00004
|
|
NM_001267550.2(TTN):c.105135T>C (p.Asp35045=)
|
rs756434452
|
0.00004
|
|
NM_001267550.2(TTN):c.105336G>A (p.Lys35112=)
|
rs546048021
|
0.00004
|
|
NM_001267550.2(TTN):c.105505C>T (p.Leu35169=)
|
rs746050101
|
0.00004
|
|
NM_001267550.2(TTN):c.105512C>T (p.Thr35171Ile)
|
rs774524898
|
0.00004
|
|
NM_001267550.2(TTN):c.10679-10G>C
|
rs397517832
|
0.00004
|
|
NM_001267550.2(TTN):c.11066T>C (p.Ile3689Thr)
|
rs527924868
|
0.00004
|
|
NM_001267550.2(TTN):c.11076C>T (p.Thr3692=)
|
rs201396224
|
0.00004
|
|
NM_001267550.2(TTN):c.11613C>T (p.Asp3871=)
|
rs781329648
|
0.00004
|
|
NM_001267550.2(TTN):c.11808T>C (p.Cys3936=)
|
rs764865773
|
0.00004
|
|
NM_001267550.2(TTN):c.11910A>T (p.Thr3970=)
|
rs727503660
|
0.00004
|
|
NM_001267550.2(TTN):c.12369C>T (p.Leu4123=)
|
rs372053333
|
0.00004
|
|
NM_001267550.2(TTN):c.13089C>T (p.Pro4363=)
|
rs555324138
|
0.00004
|
|
NM_001267550.2(TTN):c.13585C>T (p.Leu4529=)
|
rs372984881
|
0.00004
|
|
NM_001267550.2(TTN):c.13618G>A (p.Val4540Met)
|
rs201046911
|
0.00004
|
|
NM_001267550.2(TTN):c.13779A>C (p.Ile4593=)
|
rs1232179683
|
0.00004
|
|
NM_001267550.2(TTN):c.1398+9G>A
|
rs368350210
|
0.00004
|
|
NM_001267550.2(TTN):c.14141G>A (p.Gly4714Asp)
|
rs750125429
|
0.00004
|
|
NM_001267550.2(TTN):c.15561G>A (p.Leu5187=)
|
rs779159076
|
0.00004
|
|
NM_001267550.2(TTN):c.15822A>T (p.Ala5274=)
|
rs779456916
|
0.00004
|
|
NM_001267550.2(TTN):c.15831C>T (p.Pro5277=)
|
rs780784090
|
0.00004
|
|
NM_001267550.2(TTN):c.15978C>T (p.His5326=)
|
rs397517482
|
0.00004
|
|
NM_001267550.2(TTN):c.16989T>C (p.Thr5663=)
|
rs879099217
|
0.00004
|
|
NM_001267550.2(TTN):c.18297C>G (p.Leu6099=)
|
rs764712226
|
0.00004
|
|
NM_001267550.2(TTN):c.18528T>C (p.Tyr6176=)
|
rs375408819
|
0.00004
|
|
NM_001267550.2(TTN):c.18561G>A (p.Ala6187=)
|
rs377556808
|
0.00004
|
|
NM_001267550.2(TTN):c.185G>A (p.Arg62His)
|
rs758169489
|
0.00004
|
|
NM_001267550.2(TTN):c.18621T>G (p.Pro6207=)
|
rs752324971
|
0.00004
|
|
NM_001267550.2(TTN):c.18681G>A (p.Pro6227=)
|
rs372273496
|
0.00004
|
|
NM_001267550.2(TTN):c.18719G>A (p.Arg6240Gln)
|
rs761993856
|
0.00004
|
|
NM_001267550.2(TTN):c.18978A>G (p.Leu6326=)
|
rs1315197288
|
0.00004
|
|
NM_001267550.2(TTN):c.19148-19A>G
|
rs760577918
|
0.00004
|
|
NM_001267550.2(TTN):c.1914A>G (p.Glu638=)
|
rs727504691
|
0.00004
|
|
NM_001267550.2(TTN):c.19356C>T (p.Ser6452=)
|
rs369275615
|
0.00004
|
|
NM_001267550.2(TTN):c.19377G>A (p.Val6459=)
|
rs371652207
|
0.00004
|
|
NM_001267550.2(TTN):c.1953C>T (p.Ala651=)
|
rs778742098
|
0.00004
|
|
NM_001267550.2(TTN):c.19677A>C (p.Ala6559=)
|
rs372654116
|
0.00004
|
|
NM_001267550.2(TTN):c.19770A>G (p.Thr6590=)
|
rs775289296
|
0.00004
|
|
NM_001267550.2(TTN):c.20292C>T (p.Ser6764=)
|
rs369713073
|
0.00004
|
|
NM_001267550.2(TTN):c.20868G>A (p.Pro6956=)
|
rs367929968
|
0.00004
|
|
NM_001267550.2(TTN):c.20874G>A (p.Thr6958=)
|
rs765956215
|
0.00004
|
|
NM_001267550.2(TTN):c.21003A>G (p.Lys7001=)
|
rs727504579
|
0.00004
|
|
NM_001267550.2(TTN):c.21099T>G (p.Ala7033=)
|
rs377748909
|
0.00004
|
|
NM_001267550.2(TTN):c.21777T>A (p.Ile7259=)
|
rs727505220
|
0.00004
|
|
NM_001267550.2(TTN):c.21906C>T (p.Cys7302=)
|
rs370548693
|
0.00004
|
|
NM_001267550.2(TTN):c.22395A>G (p.Leu7465=)
|
rs753744867
|
0.00004
|
|
NM_001267550.2(TTN):c.22443T>G (p.Thr7481=)
|
rs762944124
|
0.00004
|
|
NM_001267550.2(TTN):c.22956T>C (p.Ser7652=)
|
rs1004007215
|
0.00004
|
|
NM_001267550.2(TTN):c.23067C>T (p.Asp7689=)
|
rs191854953
|
0.00004
|
|
NM_001267550.2(TTN):c.23685C>T (p.Pro7895=)
|
rs755534186
|
0.00004
|
|
NM_001267550.2(TTN):c.23901T>G (p.Val7967=)
|
rs550995785
|
0.00004
|
|
NM_001267550.2(TTN):c.24730C>T (p.Leu8244=)
|
rs879037219
|
0.00004
|
|
NM_001267550.2(TTN):c.24792G>A (p.Pro8264=)
|
rs767137418
|
0.00004
|
|
NM_001267550.2(TTN):c.24954T>C (p.Val8318=)
|
rs766971704
|
0.00004
|
|
NM_001267550.2(TTN):c.25005A>C (p.Ser8335=)
|
rs879229692
|
0.00004
|
|
NM_001267550.2(TTN):c.26148A>G (p.Lys8716=)
|
rs778772942
|
0.00004
|
|
NM_001267550.2(TTN):c.26463C>T (p.Phe8821=)
|
rs551600321
|
0.00004
|
|
NM_001267550.2(TTN):c.27282C>T (p.Ser9094=)
|
rs1220555799
|
0.00004
|
|
NM_001267550.2(TTN):c.27969C>T (p.Ala9323=)
|
rs773102635
|
0.00004
|
|
NM_001267550.2(TTN):c.28104A>G (p.Ala9368=)
|
rs886055291
|
0.00004
|
|
NM_001267550.2(TTN):c.28175-6T>C
|
rs769065211
|
0.00004
|
|
NM_001267550.2(TTN):c.28680C>T (p.Asp9560=)
|
rs377713076
|
0.00004
|
|
NM_001267550.2(TTN):c.28734G>A (p.Thr9578=)
|
rs369319371
|
0.00004
|
|
NM_001267550.2(TTN):c.28754-7A>T
|
rs398124445
|
0.00004
|
|
NM_001267550.2(TTN):c.2883C>T (p.Thr961=)
|
rs397517541
|
0.00004
|
|
NM_001267550.2(TTN):c.29142T>C (p.Thr9714=)
|
rs773838077
|
0.00004
|
|
NM_001267550.2(TTN):c.29421-19del
|
rs1064795938
|
0.00004
|
|
NM_001267550.2(TTN):c.29605-4T>C
|
rs765136501
|
0.00004
|
|
NM_001267550.2(TTN):c.29694+20T>C
|
rs779986851
|
0.00004
|
|
NM_001267550.2(TTN):c.29868T>C (p.His9956=)
|
rs373953903
|
0.00004
|
|
NM_001267550.2(TTN):c.30507G>A (p.Thr10169=)
|
rs376088498
|
0.00004
|
|
NM_001267550.2(TTN):c.30512-16T>A
|
rs1553874765
|
0.00004
|
|
NM_001267550.2(TTN):c.30598+8C>T
|
rs777799710
|
0.00004
|
|
NM_001267550.2(TTN):c.30642A>G (p.Pro10214=)
|
rs397517533
|
0.00004
|
|
NM_001267550.2(TTN):c.31427-20G>A
|
rs765355667
|
0.00004
|
|
NM_001267550.2(TTN):c.31518C>T (p.Pro10506=)
|
rs746912694
|
0.00004
|
|
NM_001267550.2(TTN):c.31599T>C (p.Pro10533=)
|
rs994535522
|
0.00004
|
|
NM_001267550.2(TTN):c.31679-20C>A
|
rs781223705
|
0.00004
|
|
NM_001267550.2(TTN):c.31701C>T (p.Pro10567=)
|
rs779404719
|
0.00004
|
|
NM_001267550.2(TTN):c.31762+15A>G
|
rs752358139
|
0.00004
|
|
NM_001267550.2(TTN):c.32095+1G>A
|
rs727503636
|
0.00004
|
|
NM_001267550.2(TTN):c.3240C>T (p.Ala1080=)
|
rs142170959
|
0.00004
|
|
NM_001267550.2(TTN):c.32661T>C (p.Ile10887=)
|
rs747161663
|
0.00004
|
|
NM_001267550.2(TTN):c.32722+17A>G
|
rs749875797
|
0.00004
|
|
NM_001267550.2(TTN):c.32722+8C>T
|
rs765936606
|
0.00004
|
|
NM_001267550.2(TTN):c.32807-20T>C
|
rs958650240
|
0.00004
|
|
NM_001267550.2(TTN):c.33015A>C (p.Pro11005=)
|
rs369298371
|
0.00004
|
|
NM_001267550.2(TTN):c.33664+20C>T
|
rs762601689
|
0.00004
|
|
NM_001267550.2(TTN):c.34379-14T>C
|
rs727505341
|
0.00004
|
|
NM_001267550.2(TTN):c.34824T>C (p.Pro11608=)
|
rs373476883
|
0.00004
|
|
NM_001267550.2(TTN):c.35268G>A (p.Pro11756=)
|
rs778338717
|
0.00004
|
|
NM_001267550.2(TTN):c.3549C>T (p.Ser1183=)
|
rs764819788
|
0.00004
|
|
NM_001267550.2(TTN):c.35959+13C>T
|
rs776302840
|
0.00004
|
|
NM_001267550.2(TTN):c.36174C>G (p.Leu12058=)
|
rs878910324
|
0.00004
|
|
NM_001267550.2(TTN):c.36365-9T>C
|
rs772349629
|
0.00004
|
|
NM_001267550.2(TTN):c.36532+11C>A
|
rs768495522
|
0.00004
|
|
NM_001267550.2(TTN):c.37503G>A (p.Pro12501=)
|
rs1199981167
|
0.00004
|
|
NM_001267550.2(TTN):c.37938A>G (p.Glu12646=)
|
rs1262121833
|
0.00004
|
|
NM_001267550.2(TTN):c.38109G>A (p.Val12703=)
|
rs1255997161
|
0.00004
|
|
NM_001267550.2(TTN):c.38206+10A>G
|
rs1216357373
|
0.00004
|
|
NM_001267550.2(TTN):c.38226G>C (p.Pro12742=)
|
rs965565085
|
0.00004
|
|
NM_001267550.2(TTN):c.38256G>A (p.Pro12752=)
|
rs794728014
|
0.00004
|
|
NM_001267550.2(TTN):c.39128-12T>A
|
rs779588688
|
0.00004
|
|
NM_001267550.2(TTN):c.39295+16T>C
|
rs371747911
|
0.00004
|
|
NM_001267550.2(TTN):c.39578A>G (p.Glu13193Gly)
|
rs190461403
|
0.00004
|
|
NM_001267550.2(TTN):c.39709+14C>T
|
rs760314415
|
0.00004
|
|
NM_001267550.2(TTN):c.39818-9T>C
|
rs368834130
|
0.00004
|
|
NM_001267550.2(TTN):c.40057+9C>T
|
rs181316033
|
0.00004
|
|
NM_001267550.2(TTN):c.40297+8A>G
|
rs192127273
|
0.00004
|
|
NM_001267550.2(TTN):c.40478-13A>G
|
rs753147480
|
0.00004
|
|
NM_001267550.2(TTN):c.41262T>C (p.Gly13754=)
|
rs769308483
|
0.00004
|
|
NM_001267550.2(TTN):c.41329+9T>C
|
rs779075177
|
0.00004
|
|
NM_001267550.2(TTN):c.42123A>G (p.Ala14041=)
|
rs879153417
|
0.00004
|
|
NM_001267550.2(TTN):c.4239T>G (p.Ser1413=)
|
rs372187889
|
0.00004
|
|
NM_001267550.2(TTN):c.42672G>T (p.Leu14224=)
|
rs368155350
|
0.00004
|
|
NM_001267550.2(TTN):c.4284T>A (p.Ser1428=)
|
rs771454835
|
0.00004
|
|
NM_001267550.2(TTN):c.42873G>A (p.Ala14291=)
|
rs370216450
|
0.00004
|
|
NM_001267550.2(TTN):c.43214-16T>C
|
rs760520019
|
0.00004
|
|
NM_001267550.2(TTN):c.43638C>T (p.Asp14546=)
|
rs764977967
|
0.00004
|
|
NM_001267550.2(TTN):c.43748-9T>G
|
rs1048557788
|
0.00004
|
|
NM_001267550.2(TTN):c.44379A>G (p.Pro14793=)
|
rs371741319
|
0.00004
|
|
NM_001267550.2(TTN):c.44418C>T (p.Ser14806=)
|
rs368005198
|
0.00004
|
|
NM_001267550.2(TTN):c.44691G>A (p.Lys14897=)
|
rs755769210
|
0.00004
|
|
NM_001267550.2(TTN):c.45054G>A (p.Ala15018=)
|
rs781392140
|
0.00004
|
|
NM_001267550.2(TTN):c.45177A>G (p.Ala15059=)
|
rs769716636
|
0.00004
|
|
NM_001267550.2(TTN):c.46386C>T (p.Cys15462=)
|
rs147703145
|
0.00004
|
|
NM_001267550.2(TTN):c.4645+12T>C
|
rs776972037
|
0.00004
|
|
NM_001267550.2(TTN):c.4646-7C>A
|
rs758516007
|
0.00004
|
|
NM_001267550.2(TTN):c.46489G>T (p.Val15497Phe)
|
rs371299188
|
0.00004
|
|
NM_001267550.2(TTN):c.47269+18A>C
|
rs371778857
|
0.00004
|
|
NM_001267550.2(TTN):c.47490T>C (p.Ser15830=)
|
rs1483112146
|
0.00004
|
|
NM_001267550.2(TTN):c.4764A>G (p.Val1588=)
|
rs1410819176
|
0.00004
|
|
NM_001267550.2(TTN):c.47697C>T (p.Cys15899=)
|
rs373040154
|
0.00004
|
|
NM_001267550.2(TTN):c.47761-4G>A
|
rs564918195
|
0.00004
|
|
NM_001267550.2(TTN):c.48270C>T (p.Tyr16090=)
|
rs397517592
|
0.00004
|
|
NM_001267550.2(TTN):c.49008G>A (p.Val16336=)
|
rs781078888
|
0.00004
|
|
NM_001267550.2(TTN):c.49049-16G>A
|
rs369011743
|
0.00004
|
|
NM_001267550.2(TTN):c.49128C>T (p.Arg16376=)
|
rs779532675
|
0.00004
|
|
NM_001267550.2(TTN):c.49263C>T (p.Tyr16421=)
|
rs376188859
|
0.00004
|
|
NM_001267550.2(TTN):c.49948+19C>G
|
rs754504176
|
0.00004
|
|
NM_001267550.2(TTN):c.51066C>T (p.Ala17022=)
|
rs762091746
|
0.00004
|
|
NM_001267550.2(TTN):c.51249C>A (p.Val17083=)
|
rs377342233
|
0.00004
|
|
NM_001267550.2(TTN):c.51483G>A (p.Ala17161=)
|
rs397517604
|
0.00004
|
|
NM_001267550.2(TTN):c.51606A>G (p.Val17202=)
|
rs375685343
|
0.00004
|
|
NM_001267550.2(TTN):c.51735C>T (p.Pro17245=)
|
rs747557917
|
0.00004
|
|
NM_001267550.2(TTN):c.5255G>A (p.Arg1752His)
|
rs150737838
|
0.00004
|
|
NM_001267550.2(TTN):c.52659A>G (p.Gly17553=)
|
rs779828473
|
0.00004
|
|
NM_001267550.2(TTN):c.52863G>A (p.Glu17621=)
|
rs368606067
|
0.00004
|
|
NM_001267550.2(TTN):c.52908G>C (p.Glu17636Asp)
|
rs748175453
|
0.00004
|
|
NM_001267550.2(TTN):c.53541T>C (p.Pro17847=)
|
rs950128827
|
0.00004
|
|
NM_001267550.2(TTN):c.53581+12G>T
|
rs535926889
|
0.00004
|
|
NM_001267550.2(TTN):c.54360T>C (p.Thr18120=)
|
rs749248039
|
0.00004
|
|
NM_001267550.2(TTN):c.54382-17G>T
|
rs567215912
|
0.00004
|
|
NM_001267550.2(TTN):c.54477C>G (p.Val18159=)
|
rs374335905
|
0.00004
|
|
NM_001267550.2(TTN):c.55383C>A (p.Ala18461=)
|
rs369861620
|
0.00004
|
|
NM_001267550.2(TTN):c.56199C>G (p.Leu18733=)
|
rs766306616
|
0.00004
|
|
NM_001267550.2(TTN):c.56686G>A (p.Val18896Met)
|
rs370629962
|
0.00004
|
|
NM_001267550.2(TTN):c.57112-11T>C
|
rs553667328
|
0.00004
|
|
NM_001267550.2(TTN):c.57501T>C (p.Asn19167=)
|
rs780536141
|
0.00004
|
|
NM_001267550.2(TTN):c.58008T>C (p.Asn19336=)
|
rs770525693
|
0.00004
|
|
NM_001267550.2(TTN):c.58150+16A>G
|
rs374351487
|
0.00004
|
|
NM_001267550.2(TTN):c.59235C>T (p.Thr19745=)
|
rs180965342
|
0.00004
|
|
NM_001267550.2(TTN):c.59345-13C>T
|
rs761986550
|
0.00004
|
|
NM_001267550.2(TTN):c.597A>G (p.Val199=)
|
rs144214844
|
0.00004
|
|
NM_001267550.2(TTN):c.5982G>A (p.Ser1994=)
|
rs573823772
|
0.00004
|
|
NM_001267550.2(TTN):c.59926+13C>T
|
rs754345312
|
0.00004
|
|
NM_001267550.2(TTN):c.60138T>C (p.Tyr20046=)
|
rs1215527173
|
0.00004
|
|
NM_001267550.2(TTN):c.6040A>G (p.Thr2014Ala)
|
rs180672509
|
0.00004
|
|
NM_001267550.2(TTN):c.60489C>T (p.Ala20163=)
|
rs775192641
|
0.00004
|
|
NM_001267550.2(TTN):c.60786T>C (p.Pro20262=)
|
rs1217782958
|
0.00004
|
|
NM_001267550.2(TTN):c.60921T>C (p.Tyr20307=)
|
rs765532912
|
0.00004
|
|
NM_001267550.2(TTN):c.60928C>T (p.Arg20310Cys)
|
rs200898955
|
0.00004
|
|
NM_001267550.2(TTN):c.61276C>T (p.Leu20426Phe)
|
rs377529060
|
0.00004
|
|
NM_001267550.2(TTN):c.61326G>A (p.Glu20442=)
|
rs1237051098
|
0.00004
|
|
NM_001267550.2(TTN):c.6162C>T (p.Ala2054=)
|
rs143265948
|
0.00004
|
|
NM_001267550.2(TTN):c.61698C>T (p.Val20566=)
|
rs540129161
|
0.00004
|
|
NM_001267550.2(TTN):c.61758T>C (p.Cys20586=)
|
rs879237820
|
0.00004
|
|
NM_001267550.2(TTN):c.62097A>G (p.Pro20699=)
|
rs774995592
|
0.00004
|
|
NM_001267550.2(TTN):c.62547G>A (p.Thr20849=)
|
rs368969893
|
0.00004
|
|
NM_001267550.2(TTN):c.62673T>C (p.Asp20891=)
|
rs374354363
|
0.00004
|
|
NM_001267550.2(TTN):c.62802T>C (p.Tyr20934=)
|
rs762414876
|
0.00004
|
|
NM_001267550.2(TTN):c.63794-14A>G
|
rs777146728
|
0.00004
|
|
NM_001267550.2(TTN):c.6387C>T (p.Pro2129=)
|
rs140253822
|
0.00004
|
|
NM_001267550.2(TTN):c.64467T>C (p.His21489=)
|
rs533088470
|
0.00004
|
|
NM_001267550.2(TTN):c.64761C>T (p.Asp21587=)
|
rs748386416
|
0.00004
|
|
NM_001267550.2(TTN):c.6489C>T (p.His2163=)
|
rs762045402
|
0.00004
|
|
NM_001267550.2(TTN):c.64959G>A (p.Ala21653=)
|
rs776272431
|
0.00004
|
|
NM_001267550.2(TTN):c.6508+12G>A
|
rs542421479
|
0.00004
|
|
NM_001267550.2(TTN):c.65523C>T (p.Asn21841=)
|
rs749119647
|
0.00004
|
|
NM_001267550.2(TTN):c.65864-12T>C
|
rs748522098
|
0.00004
|
|
NM_001267550.2(TTN):c.66288A>G (p.Glu22096=)
|
rs368297582
|
0.00004
|
|
NM_001267550.2(TTN):c.67348+11G>C
|
rs587780982
|
0.00004
|
|
NM_001267550.2(TTN):c.6770C>G (p.Thr2257Ser)
|
rs755999681
|
0.00004
|
|
NM_001267550.2(TTN):c.678A>G (p.Glu226=)
|
rs1001744835
|
0.00004
|
|
NM_001267550.2(TTN):c.68391G>A (p.Pro22797=)
|
rs368985748
|
0.00004
|
|
NM_001267550.2(TTN):c.68496A>G (p.Pro22832=)
|
rs780449281
|
0.00004
|
|
NM_001267550.2(TTN):c.68528-15G>A
|
rs191517080
|
0.00004
|
|
NM_001267550.2(TTN):c.68824+19T>G
|
rs149606889
|
0.00004
|
|
NM_001267550.2(TTN):c.69045G>A (p.Ala23015=)
|
rs759122929
|
0.00004
|
|
NM_001267550.2(TTN):c.69194T>C (p.Leu23065Ser)
|
rs768535148
|
0.00004
|
|
NM_001267550.2(TTN):c.69412+8G>A
|
rs753461234
|
0.00004
|
|
NM_001267550.2(TTN):c.69657A>G (p.Arg23219=)
|
rs754933980
|
0.00004
|
|
NM_001267550.2(TTN):c.70036C>T (p.Leu23346=)
|
rs397517681
|
0.00004
|
|
NM_001267550.2(TTN):c.70404A>T (p.Thr23468=)
|
rs756467437
|
0.00004
|
|
NM_001267550.2(TTN):c.70743C>T (p.His23581=)
|
rs375194057
|
0.00004
|
|
NM_001267550.2(TTN):c.70833G>A (p.Ala23611=)
|
rs377220635
|
0.00004
|
|
NM_001267550.2(TTN):c.70953C>T (p.Ile23651=)
|
rs756236085
|
0.00004
|
|
NM_001267550.2(TTN):c.71844T>C (p.Pro23948=)
|
rs750583121
|
0.00004
|
|
NM_001267550.2(TTN):c.72012T>C (p.Ala24004=)
|
rs746925988
|
0.00004
|
|
NM_001267550.2(TTN):c.72114G>A (p.Thr24038=)
|
rs768064912
|
0.00004
|
|
NM_001267550.2(TTN):c.72450T>C (p.Asp24150=)
|
rs779337350
|
0.00004
|
|
NM_001267550.2(TTN):c.72586C>T (p.Arg24196Cys)
|
rs185626486
|
0.00004
|
|
NM_001267550.2(TTN):c.73517G>A (p.Gly24506Asp)
|
rs567446185
|
0.00004
|
|
NM_001267550.2(TTN):c.73873T>C (p.Leu24625=)
|
rs545556079
|
0.00004
|
|
NM_001267550.2(TTN):c.73935C>A (p.Gly24645=)
|
rs375726644
|
0.00004
|
|
NM_001267550.2(TTN):c.7416T>C (p.Asp2472=)
|
rs763423885
|
0.00004
|
|
NM_001267550.2(TTN):c.7594+17C>G
|
rs141299222
|
0.00004
|
|
NM_001267550.2(TTN):c.75969T>C (p.Val25323=)
|
rs368759398
|
0.00004
|
|
NM_001267550.2(TTN):c.76527C>T (p.Asp25509=)
|
rs780539951
|
0.00004
|
|
NM_001267550.2(TTN):c.7815C>T (p.Tyr2605=)
|
rs184428451
|
0.00004
|
|
NM_001267550.2(TTN):c.78282C>G (p.Thr26094=)
|
rs778237170
|
0.00004
|
|
NM_001267550.2(TTN):c.78312A>G (p.Glu26104=)
|
rs761696313
|
0.00004
|
|
NM_001267550.2(TTN):c.7856-20G>T
|
rs770234398
|
0.00004
|
|
NM_001267550.2(TTN):c.78756T>C (p.Ile26252=)
|
rs372319281
|
0.00004
|
|
NM_001267550.2(TTN):c.78774A>G (p.Arg26258=)
|
rs368270588
|
0.00004
|
|
NM_001267550.2(TTN):c.79155G>A (p.Val26385=)
|
rs377618488
|
0.00004
|
|
NM_001267550.2(TTN):c.79856G>A (p.Arg26619His)
|
rs530507211
|
0.00004
|
|
NM_001267550.2(TTN):c.80586C>T (p.Ser26862=)
|
rs748292845
|
0.00004
|
|
NM_001267550.2(TTN):c.807G>A (p.Pro269=)
|
rs779966449
|
0.00004
|
|
NM_001267550.2(TTN):c.81147T>C (p.Ala27049=)
|
rs765706611
|
0.00004
|
|
NM_001267550.2(TTN):c.81672C>T (p.Asn27224=)
|
rs767422816
|
0.00004
|
|
NM_001267550.2(TTN):c.82179A>G (p.Pro27393=)
|
rs757171629
|
0.00004
|
|
NM_001267550.2(TTN):c.82485C>T (p.Asp27495=)
|
rs72648213
|
0.00004
|
|
NM_001267550.2(TTN):c.83580G>A (p.Val27860=)
|
rs200096597
|
0.00004
|
|
NM_001267550.2(TTN):c.83733C>T (p.Ser27911=)
|
rs375442124
|
0.00004
|
|
NM_001267550.2(TTN):c.85308C>T (p.Ala28436=)
|
rs765611726
|
0.00004
|
|
NM_001267550.2(TTN):c.86538A>T (p.Pro28846=)
|
rs747423090
|
0.00004
|
|
NM_001267550.2(TTN):c.86910C>T (p.Gly28970=)
|
rs397517736
|
0.00004
|
|
NM_001267550.2(TTN):c.86949A>G (p.Glu28983=)
|
rs375565646
|
0.00004
|
|
NM_001267550.2(TTN):c.87495C>T (p.Asp29165=)
|
rs371763584
|
0.00004
|
|
NM_001267550.2(TTN):c.87849A>G (p.Leu29283=)
|
rs777124377
|
0.00004
|
|
NM_001267550.2(TTN):c.8844G>A (p.Ser2948=)
|
rs531976829
|
0.00004
|
|
NM_001267550.2(TTN):c.88509C>T (p.Ala29503=)
|
rs776811363
|
0.00004
|
|
NM_001267550.2(TTN):c.88566C>T (p.Ala29522=)
|
rs375562207
|
0.00004
|
|
NM_001267550.2(TTN):c.89136C>T (p.Asn29712=)
|
rs376289479
|
0.00004
|
|
NM_001267550.2(TTN):c.89229C>T (p.Ile29743=)
|
rs376853821
|
0.00004
|
|
NM_001267550.2(TTN):c.8937C>T (p.Asn2979=)
|
rs368525666
|
0.00004
|
|
NM_001267550.2(TTN):c.90237C>T (p.His30079=)
|
rs756663688
|
0.00004
|
|
NM_001267550.2(TTN):c.90786C>T (p.Ile30262=)
|
rs727504439
|
0.00004
|
|
NM_001267550.2(TTN):c.91332C>T (p.Asn30444=)
|
rs397517752
|
0.00004
|
|
NM_001267550.2(TTN):c.91749C>T (p.Ser30583=)
|
rs886044458
|
0.00004
|
|
NM_001267550.2(TTN):c.92460C>T (p.Asn30820=)
|
rs1306769660
|
0.00004
|
|
NM_001267550.2(TTN):c.92496C>T (p.Asp30832=)
|
rs766124375
|
0.00004
|
|
NM_001267550.2(TTN):c.92506A>C (p.Thr30836Pro)
|
rs762590394
|
0.00004
|
|
NM_001267550.2(TTN):c.92568T>C (p.Tyr30856=)
|
rs1296831661
|
0.00004
|
|
NM_001267550.2(TTN):c.94029T>C (p.Asn31343=)
|
rs915586319
|
0.00004
|
|
NM_001267550.2(TTN):c.9402C>T (p.Asn3134=)
|
rs587780987
|
0.00004
|
|
NM_001267550.2(TTN):c.94230C>T (p.Ser31410=)
|
rs373502790
|
0.00004
|
|
NM_001267550.2(TTN):c.95364T>C (p.Tyr31788=)
|
rs752193341
|
0.00004
|
|
NM_001267550.2(TTN):c.96189C>T (p.Thr32063=)
|
rs544886477
|
0.00004
|
|
NM_001267550.2(TTN):c.96225T>A (p.Val32075=)
|
rs752745266
|
0.00004
|
|
NM_001267550.2(TTN):c.96390G>A (p.Thr32130=)
|
rs200999706
|
0.00004
|
|
NM_001267550.2(TTN):c.97493-20T>C
|
rs371919546
|
0.00004
|
|
NM_001267550.2(TTN):c.97795+12T>C
|
rs759477837
|
0.00004
|
|
NM_001267550.2(TTN):c.97935T>C (p.His32645=)
|
rs765709195
|
0.00004
|
|
NM_001267550.2(TTN):c.98098+11T>A
|
rs587780984
|
0.00004
|
|
NM_001267550.2(TTN):c.98205A>C (p.Ile32735=)
|
rs745468223
|
0.00004
|
|
NM_001267550.2(TTN):c.98229G>A (p.Gln32743=)
|
rs771985992
|
0.00004
|
|
NM_001267550.2(TTN):c.98319T>C (p.Tyr32773=)
|
rs183278868
|
0.00004
|
|
NM_001267550.2(TTN):c.98367G>A (p.Lys32789=)
|
rs72648274
|
0.00004
|
|
NM_001267550.2(TTN):c.99102G>C (p.Trp33034Cys)
|
rs397517778
|
0.00004
|
|
NM_001276345.2(TNNT2):c.52+13G>A
|
rs376820377
|
0.00004
|
|
NM_001276345.2(TNNT2):c.720-13C>G
|
rs377714587
|
0.00004
|
|
NM_001276345.2(TNNT2):c.720-5T>G
|
rs730881092
|
0.00004
|
|
NM_001276345.2(TNNT2):c.720-7C>T
|
rs376303087
|
0.00004
|
|
NM_001276345.2(TNNT2):c.882C>T (p.Thr294=)
|
rs45465693
|
0.00004
|
|
NM_001289808.2(CRYAB):c.9C>T (p.Ile3=)
|
rs1555165618
|
0.00004
|
|
NM_001318895.3(FHL2):c.84C>T (p.Cys28=)
|
rs375234968
|
0.00004
|
|
NM_001386795.1(DTNA):c.1431G>A (p.Ser477=)
|
rs202088347
|
0.00004
|
|
NM_001386795.1(DTNA):c.2157C>T (p.Gly719=)
|
rs754959223
|
0.00004
|
|
NM_001386795.1(DTNA):c.657G>A (p.Pro219=)
|
rs140446215
|
0.00004
|
|
NM_001386795.1(DTNA):c.69G>A (p.Arg23=)
|
rs751765838
|
0.00004
|
|
NM_001386795.1(DTNA):c.877-8C>G
|
rs764675965
|
0.00004
|
|
NM_001386795.1(DTNA):c.978G>A (p.Lys326=)
|
rs200830541
|
0.00004
|
|
NM_001458.5(FLNC):c.1211-18A>C
|
rs781059433
|
0.00004
|
|
NM_001458.5(FLNC):c.1228G>C (p.Val410Leu)
|
rs993836469
|
0.00004
|
|
NM_001458.5(FLNC):c.1242C>T (p.Ile414=)
|
rs761922411
|
0.00004
|
|
NM_001458.5(FLNC):c.1243G>A (p.Val415Met)
|
rs369182765
|
0.00004
|
|
NM_001458.5(FLNC):c.1261C>T (p.Arg421Trp)
|
rs759075520
|
0.00004
|
|
NM_001458.5(FLNC):c.1347C>T (p.Thr449=)
|
rs776162830
|
0.00004
|
|
NM_001458.5(FLNC):c.1412-10C>T
|
rs371509764
|
0.00004
|
|
NM_001458.5(FLNC):c.1535C>T (p.Thr512Met)
|
rs775538827
|
0.00004
|
|
NM_001458.5(FLNC):c.1662C>T (p.Tyr554=)
|
rs376975967
|
0.00004
|
|
NM_001458.5(FLNC):c.1677-12C>T
|
rs763076781
|
0.00004
|
|
NM_001458.5(FLNC):c.1677-14C>T
|
rs562609616
|
0.00004
|
|
NM_001458.5(FLNC):c.1728C>G (p.Ala576=)
|
rs370464621
|
0.00004
|
|
NM_001458.5(FLNC):c.1802T>C (p.Val601Ala)
|
rs763590899
|
0.00004
|
|
NM_001458.5(FLNC):c.1833C>T (p.Pro611=)
|
rs771403245
|
0.00004
|
|
NM_001458.5(FLNC):c.1849G>A (p.Glu617Lys)
|
rs773961444
|
0.00004
|
|
NM_001458.5(FLNC):c.1878C>T (p.Cys626=)
|
rs369735636
|
0.00004
|
|
NM_001458.5(FLNC):c.1936G>A (p.Asp646Asn)
|
rs372668691
|
0.00004
|
|
NM_001458.5(FLNC):c.204C>G (p.Leu68=)
|
rs752213633
|
0.00004
|
|
NM_001458.5(FLNC):c.2075T>C (p.Ile692Thr)
|
rs538863259
|
0.00004
|
|
NM_001458.5(FLNC):c.2139C>G (p.Pro713=)
|
rs746825094
|
0.00004
|
|
NM_001458.5(FLNC):c.2310C>T (p.Tyr770=)
|
rs374087953
|
0.00004
|
|
NM_001458.5(FLNC):c.2389+13G>A
|
rs757608760
|
0.00004
|
|
NM_001458.5(FLNC):c.2450T>C (p.Ile817Thr)
|
rs200653747
|
0.00004
|
|
NM_001458.5(FLNC):c.2737G>A (p.Glu913Lys)
|
rs774707336
|
0.00004
|
|
NM_001458.5(FLNC):c.2907C>A (p.Ile969=)
|
rs368059457
|
0.00004
|
|
NM_001458.5(FLNC):c.2929+10G>A
|
rs747678158
|
0.00004
|
|
NM_001458.5(FLNC):c.3133C>A (p.His1045Asn)
|
rs201863231
|
0.00004
|
|
NM_001458.5(FLNC):c.318C>G (p.Phe106Leu)
|
rs886037829
|
0.00004
|
|
NM_001458.5(FLNC):c.327C>G (p.Arg109=)
|
rs750328194
|
0.00004
|
|
NM_001458.5(FLNC):c.3588C>T (p.Ala1196=)
|
rs376078628
|
0.00004
|
|
NM_001458.5(FLNC):c.3722G>A (p.Arg1241His)
|
rs370520806
|
0.00004
|
|
NM_001458.5(FLNC):c.3833G>A (p.Arg1278Lys)
|
rs540117605
|
0.00004
|
|
NM_001458.5(FLNC):c.3949A>G (p.Thr1317Ala)
|
rs377555574
|
0.00004
|
|
NM_001458.5(FLNC):c.3965-12G>T
|
rs368592349
|
0.00004
|
|
NM_001458.5(FLNC):c.4173G>A (p.Ser1391=)
|
rs201481324
|
0.00004
|
|
NM_001458.5(FLNC):c.4650C>T (p.Asn1550=)
|
rs547733871
|
0.00004
|
|
NM_001458.5(FLNC):c.4737+18C>T
|
rs778735721
|
0.00004
|
|
NM_001458.5(FLNC):c.4744G>A (p.Glu1582Lys)
|
rs753022721
|
0.00004
|
|
NM_001458.5(FLNC):c.4771C>T (p.Arg1591Trp)
|
rs576453637
|
0.00004
|
|
NM_001458.5(FLNC):c.4803C>T (p.Ser1601=)
|
rs371475710
|
0.00004
|
|
NM_001458.5(FLNC):c.4880G>A (p.Arg1627His)
|
rs751592993
|
0.00004
|
|
NM_001458.5(FLNC):c.5142C>T (p.Tyr1714=)
|
rs573362121
|
0.00004
|
|
NM_001458.5(FLNC):c.5477A>G (p.Tyr1826Cys)
|
rs756197388
|
0.00004
|
|
NM_001458.5(FLNC):c.547C>T (p.Arg183Cys)
|
rs369221655
|
0.00004
|
|
NM_001458.5(FLNC):c.5539+15G>A
|
rs967007657
|
0.00004
|
|
NM_001458.5(FLNC):c.5668+18C>T
|
rs540465449
|
0.00004
|
|
NM_001458.5(FLNC):c.5669-9C>T
|
rs374651908
|
0.00004
|
|
NM_001458.5(FLNC):c.594C>T (p.Cys198=)
|
rs375617228
|
0.00004
|
|
NM_001458.5(FLNC):c.6048C>T (p.Ser2016=)
|
rs369991887
|
0.00004
|
|
NM_001458.5(FLNC):c.6190G>A (p.Val2064Met)
|
rs756710545
|
0.00004
|
|
NM_001458.5(FLNC):c.6204T>C (p.Asn2068=)
|
rs756870900
|
0.00004
|
|
NM_001458.5(FLNC):c.6226C>T (p.Leu2076=)
|
rs756921919
|
0.00004
|
|
NM_001458.5(FLNC):c.6279C>T (p.Asp2093=)
|
rs370386782
|
0.00004
|
|
NM_001458.5(FLNC):c.6354C>T (p.His2118=)
|
rs368455239
|
0.00004
|
|
NM_001458.5(FLNC):c.6400A>G (p.Met2134Val)
|
rs761143223
|
0.00004
|
|
NM_001458.5(FLNC):c.6504G>A (p.Val2168=)
|
rs372665009
|
0.00004
|
|
NM_001458.5(FLNC):c.6702C>T (p.Phe2234=)
|
rs370589662
|
0.00004
|
|
NM_001458.5(FLNC):c.6708C>T (p.Ser2236=)
|
rs757805510
|
0.00004
|
|
NM_001458.5(FLNC):c.6728-16C>T
|
rs781170154
|
0.00004
|
|
NM_001458.5(FLNC):c.6864C>T (p.Val2288=)
|
rs761269440
|
0.00004
|
|
NM_001458.5(FLNC):c.6894C>T (p.Pro2298=)
|
rs765567723
|
0.00004
|
|
NM_001458.5(FLNC):c.6957C>T (p.Ala2319=)
|
rs553639480
|
0.00004
|
|
NM_001458.5(FLNC):c.699+20del
|
rs1271212198
|
0.00004
|
|
NM_001458.5(FLNC):c.7041G>A (p.Leu2347=)
|
rs772789448
|
0.00004
|
|
NM_001458.5(FLNC):c.7071G>A (p.Ala2357=)
|
rs753353216
|
0.00004
|
|
NM_001458.5(FLNC):c.711T>G (p.Pro237=)
|
rs749217540
|
0.00004
|
|
NM_001458.5(FLNC):c.7182C>T (p.Asp2394=)
|
rs769465229
|
0.00004
|
|
NM_001458.5(FLNC):c.7229G>A (p.Arg2410His)
|
rs558239439
|
0.00004
|
|
NM_001458.5(FLNC):c.7256C>T (p.Thr2419Met)
|
rs199768217
|
0.00004
|
|
NM_001458.5(FLNC):c.7344G>A (p.Ser2448=)
|
rs376251952
|
0.00004
|
|
NM_001458.5(FLNC):c.7755C>T (p.Gly2585=)
|
rs746404471
|
0.00004
|
|
NM_001458.5(FLNC):c.7875C>T (p.Tyr2625=)
|
rs373614270
|
0.00004
|
|
NM_001458.5(FLNC):c.8145C>T (p.Val2715=)
|
rs746842532
|
0.00004
|
|
NM_001458.5(FLNC):c.8175T>G (p.Pro2725=)
|
rs374175186
|
0.00004
|
|
NM_001458.5(FLNC):c.963C>T (p.Thr321=)
|
rs749769428
|
0.00004
|
|
NM_001927.4(DES):c.1158C>T (p.Arg386=)
|
rs774323736
|
0.00004
|
|
NM_001927.4(DES):c.1289-18C>T
|
rs367712053
|
0.00004
|
|
NM_001927.4(DES):c.639+18C>T
|
rs768129908
|
0.00004
|
|
NM_001927.4(DES):c.63C>T (p.Ala21=)
|
rs201458068
|
0.00004
|
|
NM_001943.5(DSG2):c.1110T>C (p.Pro370=)
|
rs772805008
|
0.00004
|
|
NM_001943.5(DSG2):c.1688T>G (p.Leu563Arg)
|
rs780469370
|
0.00004
|
|
NM_001943.5(DSG2):c.1920C>T (p.Gly640=)
|
rs775642244
|
0.00004
|
|
NM_001943.5(DSG2):c.2004G>A (p.Val668=)
|
rs773645222
|
0.00004
|
|
NM_001943.5(DSG2):c.2043A>T (p.Leu681=)
|
rs780836969
|
0.00004
|
|
NM_001943.5(DSG2):c.2470C>T (p.Arg824Cys)
|
rs201845396
|
0.00004
|
|
NM_001943.5(DSG2):c.273A>G (p.Gly91=)
|
rs376944801
|
0.00004
|
|
NM_001943.5(DSG2):c.2906C>T (p.Ala969Val)
|
rs373598034
|
0.00004
|
|
NM_001943.5(DSG2):c.2959G>T (p.Val987Phe)
|
rs141405267
|
0.00004
|
|
NM_001943.5(DSG2):c.3118G>A (p.Val1040Ile)
|
rs201966605
|
0.00004
|
|
NM_001943.5(DSG2):c.3171G>A (p.Leu1057=)
|
rs376020729
|
0.00004
|
|
NM_001943.5(DSG2):c.3293C>G (p.Ser1098Cys)
|
rs2848673
|
0.00004
|
|
NM_001943.5(DSG2):c.390C>T (p.Tyr130=)
|
rs369489095
|
0.00004
|
|
NM_001943.5(DSG2):c.45+17G>A
|
rs752853934
|
0.00004
|
|
NM_001943.5(DSG2):c.873G>A (p.Thr291=)
|
rs760706353
|
0.00004
|
|
NM_001985.3(ETFB):c.705C>T (p.Ala235=)
|
rs760012472
|
0.00004
|
|
NM_002230.4(JUP):c.1371C>T (p.Cys457=)
|
rs531692563
|
0.00004
|
|
NM_002230.4(JUP):c.162G>C (p.Thr54=)
|
rs377681053
|
0.00004
|
|
NM_002230.4(JUP):c.1806C>T (p.Arg602=)
|
rs781934535
|
0.00004
|
|
NM_002230.4(JUP):c.1902G>T (p.Leu634=)
|
rs145808264
|
0.00004
|
|
NM_002230.4(JUP):c.1914C>T (p.Asn638=)
|
rs368772249
|
0.00004
|
|
NM_002230.4(JUP):c.1932C>T (p.Tyr644=)
|
rs201704572
|
0.00004
|
|
NM_002230.4(JUP):c.1945C>T (p.Leu649=)
|
rs149148171
|
0.00004
|
|
NM_002230.4(JUP):c.2086+14G>A
|
rs727504485
|
0.00004
|
|
NM_002230.4(JUP):c.321G>A (p.Glu107=)
|
rs781978743
|
0.00004
|
|
NM_002230.4(JUP):c.945C>T (p.Leu315=)
|
rs146804895
|
0.00004
|
|
NM_002230.4(JUP):c.966C>T (p.Tyr322=)
|
rs200952834
|
0.00004
|
|
NM_002471.4(MYH6):c.1278G>A (p.Gly426=)
|
rs746470514
|
0.00004
|
|
NM_002471.4(MYH6):c.1336G>A (p.Ala446Thr)
|
rs556536964
|
0.00004
|
|
NM_002471.4(MYH6):c.1381C>T (p.Leu461=)
|
rs368609214
|
0.00004
|
|
NM_002471.4(MYH6):c.2353C>T (p.Arg785Cys)
|
rs543524943
|
0.00004
|
|
NM_002471.4(MYH6):c.2532C>T (p.Ser844=)
|
rs756736352
|
0.00004
|
|
NM_002471.4(MYH6):c.2826G>A (p.Lys942=)
|
rs763959178
|
0.00004
|
|
NM_002471.4(MYH6):c.291C>T (p.His97=)
|
rs144535842
|
0.00004
|
|
NM_002471.4(MYH6):c.297C>T (p.Pro99=)
|
rs751088892
|
0.00004
|
|
NM_002471.4(MYH6):c.345+18A>G
|
rs781746086
|
0.00004
|
|
NM_002471.4(MYH6):c.4164C>T (p.Leu1388=)
|
rs201379347
|
0.00004
|
|
NM_002471.4(MYH6):c.4215C>T (p.Ala1405=)
|
rs759297333
|
0.00004
|
|
NM_002471.4(MYH6):c.4347A>G (p.Arg1449=)
|
rs750834664
|
0.00004
|
|
NM_002471.4(MYH6):c.4359+20C>T
|
rs770770450
|
0.00004
|
|
NM_002471.4(MYH6):c.4650+9C>T
|
rs764593204
|
0.00004
|
|
NM_002471.4(MYH6):c.4695A>G (p.Leu1565=)
|
rs374702183
|
0.00004
|
|
NM_002471.4(MYH6):c.4722C>T (p.Ile1574=)
|
rs375410722
|
0.00004
|
|
NM_002471.4(MYH6):c.4791C>T (p.Asp1597=)
|
rs761627508
|
0.00004
|
|
NM_002471.4(MYH6):c.5001C>T (p.Asp1667=)
|
rs377698958
|
0.00004
|
|
NM_002471.4(MYH6):c.5067G>A (p.Glu1689=)
|
rs202210008
|
0.00004
|
|
NM_002471.4(MYH6):c.5565+7_5565+8insTT
|
rs768615013
|
0.00004
|
|
NM_002633.3(PGM1):c.1023G>A (p.Leu341=)
|
rs750218135
|
0.00004
|
|
NM_002633.3(PGM1):c.57G>A (p.Thr19=)
|
rs764100819
|
0.00004
|
|
NM_002633.3(PGM1):c.99C>T (p.Ala33=)
|
rs373394538
|
0.00004
|
|
NM_002667.5(PLN):c.144C>T (p.Ile48=)
|
rs141114252
|
0.00004
|
|
NM_003280.3(TNNC1):c.105C>T (p.Cys35=)
|
rs1359525416
|
0.00004
|
|
NM_003280.3(TNNC1):c.207C>T (p.Ser69=)
|
rs202173903
|
0.00004
|
|
NM_003280.3(TNNC1):c.261C>T (p.Asp87=)
|
rs772247739
|
0.00004
|
|
NM_003280.3(TNNC1):c.317+9G>A
|
rs761287435
|
0.00004
|
|
NM_003319.4(TTN):c.37778-4C>G
|
rs369934310
|
0.00004
|
|
NM_003476.5(CSRP3):c.300C>T (p.Arg100=)
|
rs146290726
|
0.00004
|
|
NM_003673.4(TCAP):c.402T>G (p.Ala134=)
|
rs772083153
|
0.00004
|
|
NM_003673.4(TCAP):c.447C>T (p.Pro149=)
|
rs45614332
|
0.00004
|
|
NM_003673.4(TCAP):c.54G>C (p.Arg18=)
|
rs754054712
|
0.00004
|
|
NM_003803.4(MYOM1):c.1374A>G (p.Thr458=)
|
rs538980169
|
0.00004
|
|
NM_003803.4(MYOM1):c.1448G>A (p.Arg483His)
|
rs185719202
|
0.00004
|
|
NM_003803.4(MYOM1):c.1767A>G (p.Lys589=)
|
rs749627576
|
0.00004
|
|
NM_003803.4(MYOM1):c.1791A>G (p.Arg597=)
|
rs373844447
|
0.00004
|
|
NM_003803.4(MYOM1):c.3069C>T (p.Ser1023=)
|
rs747906321
|
0.00004
|
|
NM_003803.4(MYOM1):c.3864+18T>C
|
rs1041274959
|
0.00004
|
|
NM_003803.4(MYOM1):c.4672T>C (p.Phe1558Leu)
|
rs187108957
|
0.00004
|
|
NM_003803.4(MYOM1):c.4800G>A (p.Pro1600=)
|
rs368423483
|
0.00004
|
|
NM_003803.4(MYOM1):c.4806G>A (p.Pro1602=)
|
rs376121702
|
0.00004
|
|
NM_003803.4(MYOM1):c.4884C>T (p.Thr1628=)
|
rs764561365
|
0.00004
|
|
NM_003803.4(MYOM1):c.609A>G (p.Thr203=)
|
rs562448650
|
0.00004
|
|
NM_003803.4(MYOM1):c.772-5T>C
|
rs541634578
|
0.00004
|
|
NM_003803.4(MYOM1):c.929+15T>C
|
rs1255411599
|
0.00004
|
|
NM_004100.5(EYA4):c.1611C>T (p.Ser537=)
|
rs757995893
|
0.00004
|
|
NM_004100.5(EYA4):c.741A>G (p.Pro247=)
|
rs752226573
|
0.00004
|
|
NM_004100.5(EYA4):c.999C>A (p.Ser333=)
|
rs894683876
|
0.00004
|
|
NM_004281.4(BAG3):c.1446C>T (p.Asp482=)
|
rs767539919
|
0.00004
|
|
NM_004281.4(BAG3):c.1635C>G (p.Pro545=)
|
rs148597097
|
0.00004
|
|
NM_004281.4(BAG3):c.1659A>T (p.Glu553Asp)
|
rs763530097
|
0.00004
|
|
NM_004281.4(BAG3):c.627G>A (p.Pro209=)
|
rs188555685
|
0.00004
|
|
NM_004281.4(BAG3):c.652C>T (p.Arg218Trp)
|
rs397514506
|
0.00004
|
|
NM_004281.4(BAG3):c.795G>A (p.Pro265=)
|
rs180736121
|
0.00004
|
|
NM_004281.4(BAG3):c.926G>A (p.Arg309Gln)
|
rs774137001
|
0.00004
|
|
NM_004415.4(DSP):c.1005A>G (p.Gln335=)
|
rs200961741
|
0.00004
|
|
NM_004415.4(DSP):c.137G>A (p.Gly46Asp)
|
rs140403872
|
0.00004
|
|
NM_004415.4(DSP):c.1443G>A (p.Glu481=)
|
rs149126992
|
0.00004
|
|
NM_004415.4(DSP):c.1469G>A (p.Arg490His)
|
rs747815091
|
0.00004
|
|
NM_004415.4(DSP):c.2308G>A (p.Val770Ile)
|
rs1225927424
|
0.00004
|
|
NM_004415.4(DSP):c.2317C>T (p.Leu773=)
|
rs767433534
|
0.00004
|
|
NM_004415.4(DSP):c.2360A>G (p.Tyr787Cys)
|
rs778350289
|
0.00004
|
|
NM_004415.4(DSP):c.2622C>G (p.Ile874Met)
|
rs751067479
|
0.00004
|
|
NM_004415.4(DSP):c.2631-5C>T
|
rs773772683
|
0.00004
|
|
NM_004415.4(DSP):c.264C>T (p.Ile88=)
|
rs727502997
|
0.00004
|
|
NM_004415.4(DSP):c.2796C>T (p.Asn932=)
|
rs368981849
|
0.00004
|
|
NM_004415.4(DSP):c.2866A>T (p.Asn956Tyr)
|
rs397516928
|
0.00004
|
|
NM_004415.4(DSP):c.3684A>C (p.Lys1228Asn)
|
rs765645957
|
0.00004
|
|
NM_004415.4(DSP):c.3863A>G (p.Lys1288Arg)
|
rs746482538
|
0.00004
|
|
NM_004415.4(DSP):c.3904C>T (p.Arg1302Cys)
|
rs775594375
|
0.00004
|
|
NM_004415.4(DSP):c.4199G>A (p.Arg1400Gln)
|
rs748109826
|
0.00004
|
|
NM_004415.4(DSP):c.4490G>A (p.Arg1497Gln)
|
rs727505037
|
0.00004
|
|
NM_004415.4(DSP):c.4696C>G (p.Leu1566Val)
|
rs201785897
|
0.00004
|
|
NM_004415.4(DSP):c.4752G>A (p.Ala1584=)
|
rs201213622
|
0.00004
|
|
NM_004415.4(DSP):c.4819G>A (p.Glu1607Lys)
|
rs750054075
|
0.00004
|
|
NM_004415.4(DSP):c.4996C>T (p.Arg1666Trp)
|
rs758312365
|
0.00004
|
|
NM_004415.4(DSP):c.4997G>A (p.Arg1666Gln)
|
rs768577891
|
0.00004
|
|
NM_004415.4(DSP):c.5173C>T (p.Arg1725Trp)
|
rs200336897
|
0.00004
|
|
NM_004415.4(DSP):c.5194G>A (p.Asp1732Asn)
|
rs780224658
|
0.00004
|
|
NM_004415.4(DSP):c.5522C>T (p.Ser1841Leu)
|
rs397516947
|
0.00004
|
|
NM_004415.4(DSP):c.5554C>T (p.Arg1852Cys)
|
rs550818559
|
0.00004
|
|
NM_004415.4(DSP):c.5795G>A (p.Arg1932His)
|
rs770522444
|
0.00004
|
|
NM_004415.4(DSP):c.5839T>C (p.Tyr1947His)
|
rs767259019
|
0.00004
|
|
NM_004415.4(DSP):c.598-4G>A
|
rs747448946
|
0.00004
|
|
NM_004415.4(DSP):c.6240C>T (p.Phe2080=)
|
rs757650857
|
0.00004
|
|
NM_004415.4(DSP):c.6595C>T (p.Leu2199Phe)
|
rs549451471
|
0.00004
|
|
NM_004415.4(DSP):c.7035A>G (p.Gly2345=)
|
rs780379988
|
0.00004
|
|
NM_004415.4(DSP):c.7128G>T (p.Gly2376=)
|
rs756684406
|
0.00004
|
|
NM_004415.4(DSP):c.7332G>T (p.Leu2444=)
|
rs1330371919
|
0.00004
|
|
NM_004415.4(DSP):c.8084T>A (p.Phe2695Tyr)
|
rs764994940
|
0.00004
|
|
NM_004415.4(DSP):c.8117A>T (p.Lys2706Met)
|
rs537588390
|
0.00004
|
|
NM_004415.4(DSP):c.8209G>C (p.Val2737Leu)
|
rs149123428
|
0.00004
|
|
NM_004415.4(DSP):c.8229G>A (p.Gly2743=)
|
rs1060503979
|
0.00004
|
|
NM_004415.4(DSP):c.8259G>A (p.Lys2753=)
|
rs1005570207
|
0.00004
|
|
NM_004415.4(DSP):c.8500C>T (p.Arg2834Cys)
|
rs753033333
|
0.00004
|
|
NM_004415.4(DSP):c.8590T>C (p.Phe2864Leu)
|
rs764514210
|
0.00004
|
|
NM_004453.4(ETFDH):c.1659T>C (p.Tyr553=)
|
rs1333454413
|
0.00004
|
|
NM_004453.4(ETFDH):c.285A>G (p.Glu95=)
|
rs201268972
|
0.00004
|
|
NM_004453.4(ETFDH):c.488-12A>C
|
rs180889150
|
0.00004
|
|
NM_004517.4(ILK):c.1066G>A (p.Val356Ile)
|
rs199558648
|
0.00004
|
|
NM_004517.4(ILK):c.1263G>T (p.Val421=)
|
rs146642176
|
0.00004
|
|
NM_004517.4(ILK):c.503T>G (p.Phe168Cys)
|
rs747974626
|
0.00004
|
|
NM_005159.5(ACTC1):c.1053G>C (p.Leu351=)
|
rs151321743
|
0.00004
|
|
NM_005159.5(ACTC1):c.309C>T (p.His103=)
|
rs769303249
|
0.00004
|
|
NM_005159.5(ACTC1):c.652C>T (p.Leu218=)
|
rs760269526
|
0.00004
|
|
NM_005343.4(HRAS):c.249C>T (p.Ala83=)
|
rs111372582
|
0.00004
|
|
NM_005343.4(HRAS):c.258C>T (p.Asn86=)
|
rs765849763
|
0.00004
|
|
NM_005343.4(HRAS):c.309G>A (p.Val103=)
|
rs575789207
|
0.00004
|
|
NM_005343.4(HRAS):c.363T>C (p.Ala121=)
|
rs146440188
|
0.00004
|
|
NM_005343.4(HRAS):c.460G>A (p.Asp154Asn)
|
rs745497215
|
0.00004
|
|
NM_005343.4(HRAS):c.520C>T (p.Pro174Ser)
|
rs397517144
|
0.00004
|
|
NM_005343.4(HRAS):c.534C>G (p.Gly178=)
|
rs770431635
|
0.00004
|
|
NM_006073.4(TRDN):c.1011G>A (p.Lys337=)
|
rs886039062
|
0.00004
|
|
NM_006073.4(TRDN):c.1035T>C (p.Ile345=)
|
rs376370234
|
0.00004
|
|
NM_006073.4(TRDN):c.1219+4A>G
|
rs189551080
|
0.00004
|
|
NM_006073.4(TRDN):c.1420+20A>G
|
rs1274691409
|
0.00004
|
|
NM_006073.4(TRDN):c.1568-4T>A
|
rs764779610
|
0.00004
|
|
NM_006073.4(TRDN):c.1683T>C (p.Val561=)
|
rs777229118
|
0.00004
|
|
NM_006073.4(TRDN):c.1932A>G (p.Gln644=)
|
rs976397587
|
0.00004
|
|
NM_006073.4(TRDN):c.348T>G (p.Ser116=)
|
rs746361154
|
0.00004
|
|
NM_006073.4(TRDN):c.540T>C (p.Pro180=)
|
rs765743451
|
0.00004
|
|
NM_006073.4(TRDN):c.825C>T (p.Asp275=)
|
rs375079402
|
0.00004
|
|
NM_006270.5(RRAS):c.154-5G>A
|
rs753238136
|
0.00004
|
|
NM_006270.5(RRAS):c.324C>T (p.Phe108=)
|
rs578092373
|
0.00004
|
|
NM_006270.5(RRAS):c.543G>A (p.Glu181=)
|
rs370876982
|
0.00004
|
|
NM_006284.4(TAF10):c.*2423G>A
|
rs781209717
|
0.00004
|
|
NM_006284.4(TAF10):c.*2701T>C
|
rs757579795
|
0.00004
|
|
NM_006393.3(NEBL):c.1008+15G>A
|
rs375728589
|
0.00004
|
|
NM_006393.3(NEBL):c.1339-19_1339-18insC
|
rs762491132
|
0.00004
|
|
NM_006393.3(NEBL):c.1834G>A (p.Glu612Lys)
|
rs778658096
|
0.00004
|
|
NM_006393.3(NEBL):c.1893A>G (p.Lys631=)
|
rs532807680
|
0.00004
|
|
NM_006393.3(NEBL):c.2013G>A (p.Pro671=)
|
rs781677922
|
0.00004
|
|
NM_006393.3(NEBL):c.2190T>C (p.Ser730=)
|
rs371975934
|
0.00004
|
|
NM_006393.3(NEBL):c.2240C>T (p.Ser747Leu)
|
rs71578957
|
0.00004
|
|
NM_006393.3(NEBL):c.2347-9C>T
|
rs750957531
|
0.00004
|
|
NM_006393.3(NEBL):c.2518+14G>A
|
rs551568597
|
0.00004
|
|
NM_006393.3(NEBL):c.2703C>T (p.Ser901=)
|
rs374451899
|
0.00004
|
|
NM_006393.3(NEBL):c.2868+20G>A
|
rs780451303
|
0.00004
|
|
NM_006393.3(NEBL):c.2943C>T (p.Ile981=)
|
rs201105598
|
0.00004
|
|
NM_006393.3(NEBL):c.561G>C (p.Gln187His)
|
rs75301590
|
0.00004
|
|
NM_006393.3(NEBL):c.57G>C (p.Gly19=)
|
rs764290131
|
0.00004
|
|
NM_006393.3(NEBL):c.903+12A>G
|
rs745380674
|
0.00004
|
|
NM_006440.5(TXNRD2):c.1149C>T (p.Phe383=)
|
rs768999643
|
0.00004
|
|
NM_006440.5(TXNRD2):c.1182+19C>T
|
rs377040175
|
0.00004
|
|
NM_006440.5(TXNRD2):c.1305G>A (p.Glu435=)
|
rs919971767
|
0.00004
|
|
NM_006440.5(TXNRD2):c.1368C>T (p.Pro456=)
|
rs1388056453
|
0.00004
|
|
NM_006440.5(TXNRD2):c.507C>T (p.Gly169=)
|
rs374068797
|
0.00004
|
|
NM_006440.5(TXNRD2):c.949+13C>T
|
rs540907669
|
0.00004
|
|
NM_006912.6(RIT1):c.231T>C (p.Ala77=)
|
rs144170253
|
0.00004
|
|
NM_006912.6(RIT1):c.291C>A (p.Ile97=)
|
rs377326705
|
0.00004
|
|
NM_006939.4(SOS2):c.1281C>T (p.Ile427=)
|
rs8010578
|
0.00004
|
|
NM_006939.4(SOS2):c.147A>G (p.Glu49=)
|
rs1030329651
|
0.00004
|
|
NM_006939.4(SOS2):c.1584T>C (p.Ser528=)
|
rs374642561
|
0.00004
|
|
NM_006939.4(SOS2):c.1976T>C (p.Leu659Ser)
|
rs1391029692
|
0.00004
|
|
NM_006939.4(SOS2):c.2162-16T>C
|
rs764585497
|
0.00004
|
|
NM_006939.4(SOS2):c.2220A>C (p.Gln740His)
|
rs576277421
|
0.00004
|
|
NM_006939.4(SOS2):c.2261G>A (p.Ser754Asn)
|
rs181275468
|
0.00004
|
|
NM_006939.4(SOS2):c.2275A>G (p.Ile759Val)
|
rs956839910
|
0.00004
|
|
NM_006939.4(SOS2):c.2388A>G (p.Lys796=)
|
rs1884441136
|
0.00004
|
|
NM_006939.4(SOS2):c.2668-5T>C
|
rs1045852656
|
0.00004
|
|
NM_006939.4(SOS2):c.2969A>G (p.Glu990Gly)
|
rs761320331
|
0.00004
|
|
NM_006939.4(SOS2):c.3673G>C (p.Glu1225Gln)
|
rs769329817
|
0.00004
|
|
NM_006939.4(SOS2):c.3788C>G (p.Pro1263Arg)
|
rs569343105
|
0.00004
|
|
NM_006939.4(SOS2):c.3902A>G (p.His1301Arg)
|
rs759124324
|
0.00004
|
|
NM_006939.4(SOS2):c.3960C>T (p.Tyr1320=)
|
rs766057658
|
0.00004
|
|
NM_006939.4(SOS2):c.532C>G (p.Gln178Glu)
|
rs770603835
|
0.00004
|
|
NM_006939.4(SOS2):c.644G>A (p.Arg215Gln)
|
rs538341032
|
0.00004
|
|
NM_006939.4(SOS2):c.837C>T (p.Ser279=)
|
rs542617984
|
0.00004
|
|
NM_012082.4(ZFPM2):c.357A>G (p.Gln119=)
|
rs556443661
|
0.00004
|
|
NM_012082.4(ZFPM2):c.384G>A (p.Pro128=)
|
rs199814804
|
0.00004
|
|
NM_012082.4(ZFPM2):c.72A>G (p.Glu24=)
|
rs1811743355
|
0.00004
|
|
NM_013266.4(CTNNA3):c.1048-18G>A
|
rs777458138
|
0.00004
|
|
NM_013266.4(CTNNA3):c.1674C>T (p.Tyr558=)
|
rs757471865
|
0.00004
|
|
NM_013266.4(CTNNA3):c.1800G>A (p.Val600=)
|
rs137910578
|
0.00004
|
|
NM_013266.4(CTNNA3):c.1884+7T>G
|
rs762826132
|
0.00004
|
|
NM_013266.4(CTNNA3):c.2054G>A (p.Ser685Asn)
|
rs774933459
|
0.00004
|
|
NM_013266.4(CTNNA3):c.2259T>C (p.Ala753=)
|
rs761705979
|
0.00004
|
|
NM_013266.4(CTNNA3):c.2404G>T (p.Asp802Tyr)
|
rs530727340
|
0.00004
|
|
NM_013266.4(CTNNA3):c.264G>A (p.Thr88=)
|
rs752481842
|
0.00004
|
|
NM_013266.4(CTNNA3):c.822A>C (p.Gly274=)
|
rs779601781
|
0.00004
|
|
NM_014000.3(VCL):c.1177-14G>A
|
rs778137720
|
0.00004
|
|
NM_014000.3(VCL):c.1177-5T>C
|
rs370860265
|
0.00004
|
|
NM_014000.3(VCL):c.1192C>T (p.Pro398Ser)
|
rs201528612
|
0.00004
|
|
NM_014000.3(VCL):c.1206G>A (p.Pro402=)
|
rs779265817
|
0.00004
|
|
NM_014000.3(VCL):c.1607C>A (p.Pro536His)
|
rs200624351
|
0.00004
|
|
NM_014000.3(VCL):c.2028C>G (p.Val676=)
|
rs528539468
|
0.00004
|
|
NM_014000.3(VCL):c.2265T>C (p.Ser755=)
|
rs147887754
|
0.00004
|
|
NM_014000.3(VCL):c.2418A>G (p.Gly806=)
|
rs538142998
|
0.00004
|
|
NM_014000.3(VCL):c.2472C>G (p.Ile824Met)
|
rs140381835
|
0.00004
|
|
NM_014000.3(VCL):c.255C>T (p.Cys85=)
|
rs117384664
|
0.00004
|
|
NM_014000.3(VCL):c.2652G>A (p.Glu884=)
|
rs371187988
|
0.00004
|
|
NM_014000.3(VCL):c.2746-8C>T
|
rs532645343
|
0.00004
|
|
NM_014000.3(VCL):c.3258+12C>T
|
rs372030199
|
0.00004
|
|
NM_014000.3(VCL):c.45G>A (p.Pro15=)
|
rs775062250
|
0.00004
|
|
NM_014476.6(PDLIM3):c.1032C>T (p.His344=)
|
rs200734614
|
0.00004
|
|
NM_014476.6(PDLIM3):c.168G>A (p.Gly56=)
|
rs151119100
|
0.00004
|
|
NM_014476.6(PDLIM3):c.693G>A (p.Ser231=)
|
rs756066114
|
0.00004
|
|
NM_014476.6(PDLIM3):c.858C>T (p.Gly286=)
|
rs151318437
|
0.00004
|
|
NM_014476.6(PDLIM3):c.906-17G>A
|
rs199828661
|
0.00004
|
|
NM_014908.4(DOLK):c.114A>G (p.Val38=)
|
rs142000757
|
0.00004
|
|
NM_014908.4(DOLK):c.1371C>T (p.Phe457=)
|
rs772013831
|
0.00004
|
|
NM_014908.4(DOLK):c.1422G>A (p.Glu474=)
|
rs894096556
|
0.00004
|
|
NM_014908.4(DOLK):c.177G>A (p.Lys59=)
|
rs747110969
|
0.00004
|
|
NM_014908.4(DOLK):c.807T>C (p.Gly269=)
|
rs769294980
|
0.00004
|
|
NM_015374.3(SUN2):c.1257C>T (p.Ala419=)
|
rs377483966
|
0.00004
|
|
NM_015374.3(SUN2):c.1344C>T (p.Ala448=)
|
rs763054336
|
0.00004
|
|
NM_015374.3(SUN2):c.1541C>T (p.Thr514Met)
|
rs567532014
|
0.00004
|
|
NM_015374.3(SUN2):c.1948-13G>A
|
rs768318554
|
0.00004
|
|
NM_015374.3(SUN2):c.2028G>A (p.Thr676=)
|
rs775107257
|
0.00004
|
|
NM_015374.3(SUN2):c.624G>A (p.Ser208=)
|
rs747299144
|
0.00004
|
|
NM_015374.3(SUN2):c.763A>C (p.Arg255=)
|
rs781191176
|
0.00004
|
|
NM_016203.4(PRKAG2):c.1051+10A>G
|
rs773560289
|
0.00004
|
|
NM_016203.4(PRKAG2):c.1335C>T (p.Ile445=)
|
rs781153622
|
0.00004
|
|
NM_016203.4(PRKAG2):c.1614A>G (p.Ala538=)
|
rs368852903
|
0.00004
|
|
NM_016203.4(PRKAG2):c.165C>T (p.Ser55=)
|
rs202056358
|
0.00004
|
|
NM_016203.4(PRKAG2):c.166G>A (p.Gly56Arg)
|
rs397517266
|
0.00004
|
|
NM_016203.4(PRKAG2):c.1703C>T (p.Thr568Met)
|
rs540525001
|
0.00004
|
|
NM_016203.4(PRKAG2):c.312C>T (p.Thr104=)
|
rs397517268
|
0.00004
|
|
NM_016203.4(PRKAG2):c.346C>T (p.Arg116Cys)
|
rs730880989
|
0.00004
|
|
NM_016203.4(PRKAG2):c.489G>A (p.Pro163=)
|
rs556852534
|
0.00004
|
|
NM_016203.4(PRKAG2):c.617C>T (p.Pro206Leu)
|
rs182084936
|
0.00004
|
|
NM_016203.4(PRKAG2):c.981A>G (p.Leu327=)
|
rs764162597
|
0.00004
|
|
NM_020297.4(ABCC9):c.1551T>C (p.Ser517=)
|
rs996266050
|
0.00004
|
|
NM_020297.4(ABCC9):c.1803-18G>A
|
rs771455906
|
0.00004
|
|
NM_020297.4(ABCC9):c.2020-15A>C
|
rs370262042
|
0.00004
|
|
NM_020297.4(ABCC9):c.2157C>T (p.Leu719=)
|
rs201848437
|
0.00004
|
|
NM_020297.4(ABCC9):c.2391A>G (p.Leu797=)
|
rs1026995892
|
0.00004
|
|
NM_020297.4(ABCC9):c.284+14G>C
|
rs373386719
|
0.00004
|
|
NM_020297.4(ABCC9):c.3018G>A (p.Ser1006=)
|
rs1030642418
|
0.00004
|
|
NM_020297.4(ABCC9):c.3316-6T>A
|
rs750773183
|
0.00004
|
|
NM_020297.4(ABCC9):c.3567-19_3567-13del
|
rs1177684407
|
0.00004
|
|
NM_020297.4(ABCC9):c.3589C>T (p.Arg1197Cys)
|
rs778849288
|
0.00004
|
|
NM_020297.4(ABCC9):c.3606G>A (p.Thr1202=)
|
rs143316915
|
0.00004
|
|
NM_020297.4(ABCC9):c.816+11G>A
|
rs200986421
|
0.00004
|
|
NM_020433.5(JPH2):c.1212C>T (p.Ala404=)
|
rs781376425
|
0.00004
|
|
NM_020433.5(JPH2):c.1348C>T (p.Leu450=)
|
rs932394965
|
0.00004
|
|
NM_020433.5(JPH2):c.1395G>A (p.Pro465=)
|
rs890379843
|
0.00004
|
|
NM_020433.5(JPH2):c.1476G>T (p.Pro492=)
|
rs892497789
|
0.00004
|
|
NM_020433.5(JPH2):c.1812G>T (p.Leu604=)
|
rs780290036
|
0.00004
|
|
NM_020433.5(JPH2):c.1974C>T (p.Ala658=)
|
rs554320907
|
0.00004
|
|
NM_020433.5(JPH2):c.531G>A (p.Pro177=)
|
rs1057522198
|
0.00004
|
|
NM_020433.5(JPH2):c.576G>A (p.Ser192=)
|
rs1397018944
|
0.00004
|
|
NM_020433.5(JPH2):c.843C>T (p.Ala281=)
|
rs151305680
|
0.00004
|
|
NM_021167.5(GATAD1):c.681T>A (p.Ser227=)
|
rs759247482
|
0.00004
|
|
NM_021167.5(GATAD1):c.696A>G (p.Ser232=)
|
rs199766577
|
0.00004
|
|
NM_022114.4(PRDM16):c.114C>T (p.Ala38=)
|
rs372823594
|
0.00004
|
|
NM_022114.4(PRDM16):c.1206C>T (p.Ser402=)
|
rs370042460
|
0.00004
|
|
NM_022114.4(PRDM16):c.1359G>A (p.Pro453=)
|
rs749676367
|
0.00004
|
|
NM_022114.4(PRDM16):c.1440C>T (p.His480=)
|
rs777323102
|
0.00004
|
|
NM_022114.4(PRDM16):c.1470C>T (p.Pro490=)
|
rs763999418
|
0.00004
|
|
NM_022114.4(PRDM16):c.1509G>A (p.Ala503=)
|
rs558211792
|
0.00004
|
|
NM_022114.4(PRDM16):c.153G>A (p.Pro51=)
|
rs1266307612
|
0.00004
|
|
NM_022114.4(PRDM16):c.1680C>T (p.Ser560=)
|
rs565375368
|
0.00004
|
|
NM_022114.4(PRDM16):c.171C>T (p.Ser57=)
|
rs369648897
|
0.00004
|
|
NM_022114.4(PRDM16):c.1863G>A (p.Thr621=)
|
rs1412454555
|
0.00004
|
|
NM_022114.4(PRDM16):c.1869G>A (p.Ser623=)
|
rs778188314
|
0.00004
|
|
NM_022114.4(PRDM16):c.2283C>T (p.Ala761=)
|
rs751542963
|
0.00004
|
|
NM_022114.4(PRDM16):c.2421C>T (p.Ile807=)
|
rs549044743
|
0.00004
|
|
NM_022114.4(PRDM16):c.2505C>T (p.Ala835=)
|
rs762623730
|
0.00004
|
|
NM_022114.4(PRDM16):c.2532G>A (p.Pro844=)
|
rs755046777
|
0.00004
|
|
NM_022114.4(PRDM16):c.2577G>A (p.Ser859=)
|
rs768230502
|
0.00004
|
|
NM_022114.4(PRDM16):c.2724G>C (p.Leu908=)
|
rs757917553
|
0.00004
|
|
NM_022114.4(PRDM16):c.2940-15G>A
|
rs538723120
|
0.00004
|
|
NM_022114.4(PRDM16):c.3066C>T (p.Asn1022=)
|
rs747451506
|
0.00004
|
|
NM_022114.4(PRDM16):c.3156G>A (p.Ala1052=)
|
rs374274116
|
0.00004
|
|
NM_022114.4(PRDM16):c.3198C>T (p.Asp1066=)
|
rs541579138
|
0.00004
|
|
NM_022114.4(PRDM16):c.3270G>A (p.Thr1090=)
|
rs375314464
|
0.00004
|
|
NM_022114.4(PRDM16):c.3327C>T (p.Gly1109=)
|
rs766134173
|
0.00004
|
|
NM_022114.4(PRDM16):c.3521+12C>T
|
rs982195800
|
0.00004
|
|
NM_022114.4(PRDM16):c.3696+11G>A
|
rs775474986
|
0.00004
|
|
NM_022114.4(PRDM16):c.378C>T (p.Phe126=)
|
rs774801289
|
0.00004
|
|
NM_022114.4(PRDM16):c.777G>A (p.Ala259=)
|
rs557978089
|
0.00004
|
|
NM_022114.4(PRDM16):c.885-10C>T
|
rs368200652
|
0.00004
|
|
NM_022114.4(PRDM16):c.885-5C>T
|
rs374596243
|
0.00004
|
|
NM_024334.3(TMEM43):c.402C>T (p.Thr134=)
|
rs370422391
|
0.00004
|
|
NM_024334.3(TMEM43):c.624A>G (p.Leu208=)
|
rs527942696
|
0.00004
|
|
NM_024334.3(TMEM43):c.705+11A>T
|
rs960038220
|
0.00004
|
|
NM_024334.3(TMEM43):c.750C>T (p.Gly250=)
|
rs374222050
|
0.00004
|
|
NM_024422.6(DSC2):c.1176T>C (p.Asn392=)
|
rs769365346
|
0.00004
|
|
NM_024422.6(DSC2):c.1308T>C (p.Gly436=)
|
rs762786487
|
0.00004
|
|
NM_024422.6(DSC2):c.1552G>C (p.Val518Leu)
|
rs397517394
|
0.00004
|
|
NM_024422.6(DSC2):c.160C>T (p.Leu54=)
|
rs149347582
|
0.00004
|
|
NM_024422.6(DSC2):c.1776G>A (p.Ala592=)
|
rs727502980
|
0.00004
|
|
NM_024422.6(DSC2):c.2175A>C (p.Pro725=)
|
rs921649870
|
0.00004
|
|
NM_024422.6(DSC2):c.2202G>A (p.Gln734=)
|
rs775922060
|
0.00004
|
|
NM_024422.6(DSC2):c.2208C>T (p.Asn736=)
|
rs727504534
|
0.00004
|
|
NM_024422.6(DSC2):c.2251-20G>A
|
rs779900062
|
0.00004
|
|
NM_024422.6(DSC2):c.2509-16T>C
|
rs978907622
|
0.00004
|
|
NM_024422.6(DSC2):c.408A>G (p.Arg136=)
|
rs561653481
|
0.00004
|
|
NM_024422.6(DSC2):c.630+15G>A
|
rs201596999
|
0.00004
|
|
NM_024422.6(DSC2):c.669A>G (p.Pro223=)
|
rs923697621
|
0.00004
|
|
NM_024422.6(DSC2):c.69+18C>T
|
rs1274405499
|
0.00004
|
|
NM_024422.6(DSC2):c.69+8T>C
|
rs921767833
|
0.00004
|
|
NM_024422.6(DSC2):c.70-7T>G
|
rs184341263
|
0.00004
|
|
NM_024422.6(DSC2):c.776-12T>G
|
rs397517403
|
0.00004
|
|
NM_032578.4(MYPN):c.1229T>C (p.Val410Ala)
|
rs199476406
|
0.00004
|
|
NM_032578.4(MYPN):c.1560A>G (p.Lys520=)
|
rs199809622
|
0.00004
|
|
NM_032578.4(MYPN):c.1973+10A>T
|
rs756078237
|
0.00004
|
|
NM_032578.4(MYPN):c.2106G>A (p.Ala702=)
|
rs560387426
|
0.00004
|
|
NM_032578.4(MYPN):c.2133G>A (p.Lys711=)
|
rs370032844
|
0.00004
|
|
NM_032578.4(MYPN):c.2199C>T (p.Thr733=)
|
rs778525926
|
0.00004
|
|
NM_032578.4(MYPN):c.2565-7C>T
|
rs373241021
|
0.00004
|
|
NM_032578.4(MYPN):c.2709C>T (p.Tyr903=)
|
rs772657844
|
0.00004
|
|
NM_032578.4(MYPN):c.3420C>T (p.Asp1140=)
|
rs200786762
|
0.00004
|
|
NM_032578.4(MYPN):c.3438C>T (p.Cys1146=)
|
rs369746212
|
0.00004
|
|
NM_032578.4(MYPN):c.3659+14C>T
|
rs370172180
|
0.00004
|
|
NM_032578.4(MYPN):c.3720C>T (p.Asp1240=)
|
rs146280945
|
0.00004
|
|
NM_032578.4(MYPN):c.3756C>T (p.Ala1252=)
|
rs765512505
|
0.00004
|
|
NM_033118.4(MYLK2):c.1377C>A (p.Ile459=)
|
rs751829959
|
0.00004
|
|
NM_033118.4(MYLK2):c.1401T>C (p.Ser467=)
|
rs770625966
|
0.00004
|
|
NM_033118.4(MYLK2):c.1731C>T (p.Ser577=)
|
rs772804572
|
0.00004
|
|
NM_033118.4(MYLK2):c.357C>A (p.Gly119=)
|
rs199854237
|
0.00004
|
|
NM_033118.4(MYLK2):c.417C>T (p.Ala139=)
|
rs560951755
|
0.00004
|
|
NM_033118.4(MYLK2):c.507C>T (p.Ser169=)
|
rs374538348
|
0.00004
|
|
NM_033118.4(MYLK2):c.558G>A (p.Thr186=)
|
rs140695242
|
0.00004
|
|
NM_033118.4(MYLK2):c.714C>T (p.Ser238=)
|
rs374323310
|
0.00004
|
|
NM_144573.4(NEXN):c.1252-20C>A
|
rs776869661
|
0.00004
|
|
NM_144573.4(NEXN):c.1450C>A (p.Arg484=)
|
rs767792289
|
0.00004
|
|
NM_144573.4(NEXN):c.249G>A (p.Glu83=)
|
rs372532824
|
0.00004
|
|
NM_144573.4(NEXN):c.739T>C (p.Leu247=)
|
rs781118443
|
0.00004
|
|
NM_145046.5(CALR3):c.1089G>T (p.Leu363=)
|
rs201203591
|
0.00004
|
|
NM_145046.5(CALR3):c.786+9C>A
|
rs1159720687
|
0.00004
|
|
NM_145046.5(CALR3):c.918+16C>T
|
rs777906520
|
0.00004
|
|
NM_152594.3(SPRED1):c.1260C>T (p.Tyr420=)
|
rs202087411
|
0.00004
|
|
NM_152594.3(SPRED1):c.424-5A>G
|
rs752656697
|
0.00004
|
|
NM_152594.3(SPRED1):c.438T>C (p.Asp146=)
|
rs757357920
|
0.00004
|
|
NM_152594.3(SPRED1):c.594T>C (p.Gly198=)
|
rs756643495
|
0.00004
|
|
NM_152594.3(SPRED1):c.634G>A (p.Val212Ile)
|
rs769630742
|
0.00004
|
|
NM_182914.3(SYNE2):c.1014A>G (p.Ser338=)
|
rs1205640366
|
0.00004
|
|
NM_182914.3(SYNE2):c.10432-17T>G
|
rs376299946
|
0.00004
|
|
NM_182914.3(SYNE2):c.10770A>G (p.Lys3590=)
|
rs200301350
|
0.00004
|
|
NM_182914.3(SYNE2):c.12189C>T (p.Thr4063=)
|
rs372251838
|
0.00004
|
|
NM_182914.3(SYNE2):c.12192A>G (p.Val4064=)
|
rs374645403
|
0.00004
|
|
NM_182914.3(SYNE2):c.12492+12C>T
|
rs368374335
|
0.00004
|
|
NM_182914.3(SYNE2):c.12600A>G (p.Gln4200=)
|
rs189167925
|
0.00004
|
|
NM_182914.3(SYNE2):c.12783G>A (p.Pro4261=)
|
rs373978139
|
0.00004
|
|
NM_182914.3(SYNE2):c.13281-6C>T
|
rs376973894
|
0.00004
|
|
NM_182914.3(SYNE2):c.13452C>T (p.Ser4484=)
|
rs138084733
|
0.00004
|
|
NM_182914.3(SYNE2):c.13917+10C>T
|
rs760288753
|
0.00004
|
|
NM_182914.3(SYNE2):c.14052C>T (p.Asn4684=)
|
rs755641355
|
0.00004
|
|
NM_182914.3(SYNE2):c.14140-14T>C
|
rs745639925
|
0.00004
|
|
NM_182914.3(SYNE2):c.14313G>A (p.Ala4771=)
|
rs148690779
|
0.00004
|
|
NM_182914.3(SYNE2):c.1598C>T (p.Ala533Val)
|
rs371740578
|
0.00004
|
|
NM_182914.3(SYNE2):c.16194C>T (p.Ala5398=)
|
rs764264884
|
0.00004
|
|
NM_182914.3(SYNE2):c.16310A>G (p.His5437Arg)
|
rs202122347
|
0.00004
|
|
NM_182914.3(SYNE2):c.16848C>T (p.Leu5616=)
|
rs375802845
|
0.00004
|
|
NM_182914.3(SYNE2):c.17236-16C>T
|
rs372327611
|
0.00004
|
|
NM_182914.3(SYNE2):c.17321T>C (p.Leu5774Pro)
|
rs756967024
|
0.00004
|
|
NM_182914.3(SYNE2):c.18037A>C (p.Arg6013=)
|
rs375971416
|
0.00004
|
|
NM_182914.3(SYNE2):c.18641G>A (p.Arg6214Lys)
|
rs200152990
|
0.00004
|
|
NM_182914.3(SYNE2):c.1908C>T (p.Val636=)
|
rs201309132
|
0.00004
|
|
NM_182914.3(SYNE2):c.19333+7G>A
|
rs779312321
|
0.00004
|
|
NM_182914.3(SYNE2):c.19861-5G>C
|
rs182600079
|
0.00004
|
|
NM_182914.3(SYNE2):c.5742C>T (p.Ile1914=)
|
rs755138752
|
0.00004
|
|
NM_182914.3(SYNE2):c.5987T>C (p.Leu1996Ser)
|
rs780750526
|
0.00004
|
|
NM_182914.3(SYNE2):c.6714+17A>G
|
rs910718478
|
0.00004
|
|
NM_182914.3(SYNE2):c.6736G>A (p.Gly2246Ser)
|
rs774737023
|
0.00004
|
|
NM_182914.3(SYNE2):c.7146C>A (p.Ala2382=)
|
rs1463651183
|
0.00004
|
|
NM_182914.3(SYNE2):c.7222-9G>A
|
rs373161954
|
0.00004
|
|
NM_182914.3(SYNE2):c.7830G>A (p.Val2610=)
|
rs371302175
|
0.00004
|
|
NM_182914.3(SYNE2):c.8484A>G (p.Gln2828=)
|
rs747556170
|
0.00004
|
|
NM_182914.3(SYNE2):c.9057A>G (p.Gln3019=)
|
rs367619644
|
0.00004
|
|
NM_182914.3(SYNE2):c.9691C>T (p.Arg3231Cys)
|
rs546650178
|
0.00004
|
|
NM_182961.4(SYNE1):c.10257T>C (p.His3419=)
|
rs147631683
|
0.00004
|
|
NM_182961.4(SYNE1):c.1125C>T (p.Asp375=)
|
rs569973824
|
0.00004
|
|
NM_182961.4(SYNE1):c.12099C>T (p.His4033=)
|
rs375862387
|
0.00004
|
|
NM_182961.4(SYNE1):c.12436C>T (p.Leu4146=)
|
rs777433973
|
0.00004
|
|
NM_182961.4(SYNE1):c.1428A>G (p.Pro476=)
|
rs778574491
|
0.00004
|
|
NM_182961.4(SYNE1):c.1458C>T (p.Ala486=)
|
rs373091521
|
0.00004
|
|
NM_182961.4(SYNE1):c.14976T>C (p.Tyr4992=)
|
rs935200376
|
0.00004
|
|
NM_182961.4(SYNE1):c.1497C>T (p.His499=)
|
rs758555741
|
0.00004
|
|
NM_182961.4(SYNE1):c.15451G>A (p.Val5151Met)
|
rs199996504
|
0.00004
|
|
NM_182961.4(SYNE1):c.15510G>A (p.Glu5170=)
|
rs763638514
|
0.00004
|
|
NM_182961.4(SYNE1):c.16278G>A (p.Thr5426=)
|
rs779112403
|
0.00004
|
|
NM_182961.4(SYNE1):c.1632+6T>C
|
rs758756977
|
0.00004
|
|
NM_182961.4(SYNE1):c.16350G>A (p.Ala5450=)
|
rs768673070
|
0.00004
|
|
NM_182961.4(SYNE1):c.16390-11T>C
|
rs765234446
|
0.00004
|
|
NM_182961.4(SYNE1):c.17322G>T (p.Leu5774=)
|
rs752995421
|
0.00004
|
|
NM_182961.4(SYNE1):c.1737A>G (p.Glu579=)
|
rs199673388
|
0.00004
|
|
NM_182961.4(SYNE1):c.18630C>T (p.Pro6210=)
|
rs1022996215
|
0.00004
|
|
NM_182961.4(SYNE1):c.18815+16C>T
|
rs369215013
|
0.00004
|
|
NM_182961.4(SYNE1):c.19188C>T (p.Asp6396=)
|
rs369626489
|
0.00004
|
|
NM_182961.4(SYNE1):c.20556A>G (p.Gln6852=)
|
rs147173664
|
0.00004
|
|
NM_182961.4(SYNE1):c.21285C>T (p.Asp7095=)
|
rs768886911
|
0.00004
|
|
NM_182961.4(SYNE1):c.22044+11C>G
|
rs751070924
|
0.00004
|
|
NM_182961.4(SYNE1):c.22164A>G (p.Thr7388=)
|
rs774480374
|
0.00004
|
|
NM_182961.4(SYNE1):c.23335T>C (p.Leu7779=)
|
rs200800604
|
0.00004
|
|
NM_182961.4(SYNE1):c.23589C>T (p.Asn7863=)
|
rs753421656
|
0.00004
|
|
NM_182961.4(SYNE1):c.23742C>T (p.Tyr7914=)
|
rs781192759
|
0.00004
|
|
NM_182961.4(SYNE1):c.24130-7G>T
|
rs368697044
|
0.00004
|
|
NM_182961.4(SYNE1):c.2440T>C (p.Leu814=)
|
rs368201364
|
0.00004
|
|
NM_182961.4(SYNE1):c.24780G>A (p.Ser8260=)
|
rs766320378
|
0.00004
|
|
NM_182961.4(SYNE1):c.25194G>A (p.Glu8398=)
|
rs369691475
|
0.00004
|
|
NM_182961.4(SYNE1):c.26208C>T (p.Ser8736=)
|
rs770690488
|
0.00004
|
|
NM_182961.4(SYNE1):c.26391C>T (p.Leu8797=)
|
rs201891399
|
0.00004
|
|
NM_182961.4(SYNE1):c.2893-13C>T
|
rs148337270
|
0.00004
|
|
NM_182961.4(SYNE1):c.3099C>T (p.Ala1033=)
|
rs201752079
|
0.00004
|
|
NM_182961.4(SYNE1):c.3435A>T (p.Thr1145=)
|
rs759359527
|
0.00004
|
|
NM_182961.4(SYNE1):c.3525C>T (p.Thr1175=)
|
rs761360867
|
0.00004
|
|
NM_182961.4(SYNE1):c.462C>T (p.Ser154=)
|
rs761939786
|
0.00004
|
|
NM_182961.4(SYNE1):c.4992A>G (p.Leu1664=)
|
rs187410988
|
0.00004
|
|
NM_182961.4(SYNE1):c.6537G>A (p.Leu2179=)
|
rs138725794
|
0.00004
|
|
NM_182961.4(SYNE1):c.7485G>A (p.Glu2495=)
|
rs901474571
|
0.00004
|
|
NM_182961.4(SYNE1):c.7755T>C (p.Ser2585=)
|
rs759690937
|
0.00004
|
|
NM_182961.4(SYNE1):c.780C>T (p.Asp260=)
|
rs376480815
|
0.00004
|
|
NM_182961.4(SYNE1):c.8169C>T (p.His2723=)
|
rs371449580
|
0.00004
|
|
NM_182961.4(SYNE1):c.8653-19T>C
|
rs376539357
|
0.00004
|
|
NM_182961.4(SYNE1):c.9651+19C>T
|
rs543352190
|
0.00004
|
|
NM_182961.4(SYNE1):c.9834C>T (p.Ile3278=)
|
rs142241062
|
0.00004
|
|
NM_000018.4(ACADVL):c.1458G>T (p.Gly486=)
|
rs749425874
|
0.00003
|
|
NM_000018.4(ACADVL):c.1532+11G>A
|
rs372900326
|
0.00003
|
|
NM_000018.4(ACADVL):c.1566C>T (p.Ser522=)
|
rs371654348
|
0.00003
|
|
NM_000018.4(ACADVL):c.1606-6C>T
|
rs764055292
|
0.00003
|
|
NM_000018.4(ACADVL):c.168C>G (p.Pro56=)
|
rs544122648
|
0.00003
|
|
NM_000018.4(ACADVL):c.1782C>A (p.Pro594=)
|
rs1373644425
|
0.00003
|
|
NM_000018.4(ACADVL):c.1785G>A (p.Thr595=)
|
rs774382482
|
0.00003
|
|
NM_000018.4(ACADVL):c.1828-20C>T
|
rs757145035
|
0.00003
|
|
NM_000018.4(ACADVL):c.343-14T>C
|
rs200368309
|
0.00003
|
|
NM_000018.4(ACADVL):c.369C>T (p.Asp123=)
|
rs374524648
|
0.00003
|
|
NM_000018.4(ACADVL):c.945A>G (p.Val315=)
|
rs761849960
|
0.00003
|
|
NM_000023.4(SGCA):c.157+7G>A
|
rs965018395
|
0.00003
|
|
NM_000023.4(SGCA):c.158-4C>A
|
rs776411719
|
0.00003
|
|
NM_000023.4(SGCA):c.34G>A (p.Val12Met)
|
rs766209304
|
0.00003
|
|
NM_000023.4(SGCA):c.522C>T (p.Asn174=)
|
rs148960833
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.321G>A (p.Glu107=)
|
rs143525004
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.371-6C>A
|
rs782195445
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.48C>G (p.Thr16=)
|
rs397515743
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.591G>T (p.Gly197=)
|
rs150583937
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val)
|
rs200909606
|
0.00003
|
|
NM_000117.3(EMD):c.173C>T (p.Ser58Phe)
|
rs781797234
|
0.00003
|
|
NM_000117.3(EMD):c.234G>A (p.Lys78=)
|
rs781889152
|
0.00003
|
|
NM_000117.3(EMD):c.243C>T (p.Asp81=)
|
rs150757295
|
0.00003
|
|
NM_000117.3(EMD):c.267C>G (p.Gly89=)
|
rs1201464258
|
0.00003
|
|
NM_000117.3(EMD):c.390C>T (p.Phe130=)
|
rs781952981
|
0.00003
|
|
NM_000117.3(EMD):c.399+10C>T
|
rs375654959
|
0.00003
|
|
NM_000117.3(EMD):c.39C>A (p.Thr13=)
|
rs1352660201
|
0.00003
|
|
NM_000117.3(EMD):c.449+5G>A
|
rs370840449
|
0.00003
|
|
NM_000117.3(EMD):c.469C>T (p.Arg157Trp)
|
rs782431693
|
0.00003
|
|
NM_000117.3(EMD):c.671C>T (p.Pro224Leu)
|
rs782559230
|
0.00003
|
|
NM_000117.3(EMD):c.672G>A (p.Pro224=)
|
rs1267603257
|
0.00003
|
|
NM_000117.3(EMD):c.677G>C (p.Trp226Ser)
|
rs141732118
|
0.00003
|
|
NM_000117.3(EMD):c.714C>T (p.Val238=)
|
rs782290874
|
0.00003
|
|
NM_000126.4(ETFA):c.351+8G>A
|
rs374723922
|
0.00003
|
|
NM_000126.4(ETFA):c.720A>G (p.Gln240=)
|
rs756864231
|
0.00003
|
|
NM_000126.4(ETFA):c.733+16T>G
|
rs755381395
|
0.00003
|
|
NM_000126.4(ETFA):c.771T>G (p.Val257=)
|
rs138255469
|
0.00003
|
|
NM_000126.4(ETFA):c.816+8T>A
|
rs759412407
|
0.00003
|
|
NM_000126.4(ETFA):c.981T>G (p.Thr327=)
|
rs752246889
|
0.00003
|
|
NM_000152.5(GAA):c.1059G>A (p.Gln353=)
|
rs376146090
|
0.00003
|
|
NM_000152.5(GAA):c.1075+12T>G
|
rs370842677
|
0.00003
|
|
NM_000152.5(GAA):c.1411G>A (p.Glu471Lys)
|
rs189402693
|
0.00003
|
|
NM_000152.5(GAA):c.1437+8G>A
|
rs779194427
|
0.00003
|
|
NM_000152.5(GAA):c.1636+10C>A
|
rs778634411
|
0.00003
|
|
NM_000152.5(GAA):c.1754+16C>T
|
rs369836797
|
0.00003
|
|
NM_000152.5(GAA):c.1803G>A (p.Ser601=)
|
rs368993048
|
0.00003
|
|
NM_000152.5(GAA):c.18G>C (p.Pro6=)
|
rs774703637
|
0.00003
|
|
NM_000152.5(GAA):c.2154C>T (p.Val718=)
|
rs1800311
|
0.00003
|
|
NM_000152.5(GAA):c.2190-4G>A
|
rs759974338
|
0.00003
|
|
NM_000152.5(GAA):c.2481+14G>A
|
rs749667983
|
0.00003
|
|
NM_000152.5(GAA):c.2609G>A (p.Arg870Gln)
|
rs747076541
|
0.00003
|
|
NM_000152.5(GAA):c.2739C>G (p.Pro913=)
|
rs370765733
|
0.00003
|
|
NM_000152.5(GAA):c.2757C>T (p.Asn919=)
|
rs766916186
|
0.00003
|
|
NM_000152.5(GAA):c.277G>A (p.Ala93Thr)
|
rs142481170
|
0.00003
|
|
NM_000152.5(GAA):c.654C>T (p.Phe218=)
|
rs762830719
|
0.00003
|
|
NM_000152.5(GAA):c.69C>T (p.Thr23=)
|
rs746351336
|
0.00003
|
|
NM_000152.5(GAA):c.855C>A (p.Pro285=)
|
rs754080080
|
0.00003
|
|
NM_000152.5(GAA):c.867G>A (p.Ala289=)
|
rs534515557
|
0.00003
|
|
NM_000152.5(GAA):c.955+14C>A
|
rs756921041
|
0.00003
|
|
NM_000182.5(HADHA):c.1014C>T (p.Ala338=)
|
rs748021991
|
0.00003
|
|
NM_000182.5(HADHA):c.1174G>A (p.Ala392Thr)
|
rs534553558
|
0.00003
|
|
NM_000182.5(HADHA):c.12C>T (p.Cys4=)
|
rs938902936
|
0.00003
|
|
NM_000182.5(HADHA):c.1479+9G>A
|
rs761058783
|
0.00003
|
|
NM_000182.5(HADHA):c.1620+9C>G
|
rs772786562
|
0.00003
|
|
NM_000182.5(HADHA):c.1683C>A (p.Ile561=)
|
rs372266559
|
0.00003
|
|
NM_000182.5(HADHA):c.1923G>A (p.Glu641=)
|
rs754472544
|
0.00003
|
|
NM_000182.5(HADHA):c.41C>T (p.Ser14Phe)
|
rs765213828
|
0.00003
|
|
NM_000182.5(HADHA):c.777G>A (p.Lys259=)
|
rs142071869
|
0.00003
|
|
NM_000182.5(HADHA):c.828A>G (p.Pro276=)
|
rs765819381
|
0.00003
|
|
NM_000182.5(HADHA):c.954C>T (p.Ala318=)
|
rs755595692
|
0.00003
|
|
NM_000231.3(SGCG):c.345G>A (p.Ala115=)
|
rs1800352
|
0.00003
|
|
NM_000231.3(SGCG):c.753G>A (p.Thr251=)
|
rs748332364
|
0.00003
|
|
NM_000232.5(SGCB):c.27A>C (p.Ala9=)
|
rs1170618819
|
0.00003
|
|
NM_000232.5(SGCB):c.429+13A>G
|
rs759134929
|
0.00003
|
|
NM_000232.5(SGCB):c.882G>A (p.Thr294=)
|
rs572922347
|
0.00003
|
|
NM_000256.3(MYBPC3):c.1293C>T (p.Asp431=)
|
rs763808974
|
0.00003
|
|
NM_000256.3(MYBPC3):c.1308C>T (p.Cys436=)
|
rs759826878
|
0.00003
|
|
NM_000256.3(MYBPC3):c.1422G>A (p.Glu474=)
|
rs397515901
|
0.00003
|
|
NM_000256.3(MYBPC3):c.1624+18G>C
|
rs767468093
|
0.00003
|
|
NM_000256.3(MYBPC3):c.165C>T (p.Tyr55=)
|
rs780012957
|
0.00003
|
|
NM_000256.3(MYBPC3):c.1758C>T (p.Pro586=)
|
rs727505203
|
0.00003
|
|
NM_000256.3(MYBPC3):c.1785C>T (p.Ile595=)
|
rs572227730
|
0.00003
|
|
NM_000256.3(MYBPC3):c.1842C>T (p.Tyr614=)
|
rs774488435
|
0.00003
|
|
NM_000256.3(MYBPC3):c.2010C>T (p.Asp670=)
|
rs558051480
|
0.00003
|
|
NM_000256.3(MYBPC3):c.2064G>A (p.Thr688=)
|
rs758224257
|
0.00003
|
|
NM_000256.3(MYBPC3):c.2178C>T (p.Arg726=)
|
rs370676057
|
0.00003
|
|
NM_000256.3(MYBPC3):c.2211G>A (p.Thr737=)
|
rs113265977
|
0.00003
|
|
NM_000256.3(MYBPC3):c.2308+12C>T
|
rs727505335
|
0.00003
|
|
NM_000256.3(MYBPC3):c.2511C>T (p.Ile837=)
|
rs542181308
|
0.00003
|
|
NM_000256.3(MYBPC3):c.292+17C>T
|
rs968831160
|
0.00003
|
|
NM_000256.3(MYBPC3):c.292+9C>T
|
rs752388318
|
0.00003
|
|
NM_000256.3(MYBPC3):c.3191-7C>T
|
rs373012629
|
0.00003
|
|
NM_000256.3(MYBPC3):c.3198A>G (p.Pro1066=)
|
rs756786807
|
0.00003
|
|
NM_000256.3(MYBPC3):c.3472G>A (p.Val1158Ile)
|
rs542350927
|
0.00003
|
|
NM_000256.3(MYBPC3):c.363G>A (p.Pro121=)
|
rs780768974
|
0.00003
|
|
NM_000256.3(MYBPC3):c.3741C>T (p.Asp1247=)
|
rs543376073
|
0.00003
|
|
NM_000256.3(MYBPC3):c.3777G>A (p.Gln1259=)
|
rs746042492
|
0.00003
|
|
NM_000256.3(MYBPC3):c.505+10A>G
|
rs1303925716
|
0.00003
|
|
NM_000256.3(MYBPC3):c.558G>A (p.Pro186=)
|
rs370962887
|
0.00003
|
|
NM_000256.3(MYBPC3):c.654+18G>A
|
rs758836172
|
0.00003
|
|
NM_000256.3(MYBPC3):c.669G>A (p.Glu223=)
|
rs778582048
|
0.00003
|
|
NM_000256.3(MYBPC3):c.909-20C>T
|
rs377262354
|
0.00003
|
|
NM_000256.3(MYBPC3):c.924G>A (p.Pro308=)
|
rs771875597
|
0.00003
|
|
NM_000256.3(MYBPC3):c.927-10C>T
|
rs201078659
|
0.00003
|
|
NM_000257.4(MYH7):c.1413C>T (p.Asn471=)
|
rs760737402
|
0.00003
|
|
NM_000257.4(MYH7):c.1446C>T (p.Asn482=)
|
rs775745470
|
0.00003
|
|
NM_000257.4(MYH7):c.1579-9C>T
|
rs746693128
|
0.00003
|
|
NM_000257.4(MYH7):c.1608G>A (p.Glu536=)
|
rs397516115
|
0.00003
|
|
NM_000257.4(MYH7):c.1632C>T (p.Thr544=)
|
rs587781089
|
0.00003
|
|
NM_000257.4(MYH7):c.1983C>T (p.Asn661=)
|
rs146474860
|
0.00003
|
|
NM_000257.4(MYH7):c.2040T>C (p.Ser680=)
|
rs200980487
|
0.00003
|
|
NM_000257.4(MYH7):c.2295C>T (p.Phe765=)
|
rs1490366072
|
0.00003
|
|
NM_000257.4(MYH7):c.2305C>T (p.Leu769=)
|
rs45606737
|
0.00003
|
|
NM_000257.4(MYH7):c.2423+19A>G
|
rs746018500
|
0.00003
|
|
NM_000257.4(MYH7):c.2643G>T (p.Leu881=)
|
rs754470231
|
0.00003
|
|
NM_000257.4(MYH7):c.2658C>T (p.Asp886=)
|
rs765948561
|
0.00003
|
|
NM_000257.4(MYH7):c.2859C>T (p.Asp953=)
|
rs370800700
|
0.00003
|
|
NM_000257.4(MYH7):c.2988G>A (p.Lys996=)
|
rs1176423898
|
0.00003
|
|
NM_000257.4(MYH7):c.3245+20C>T
|
rs747292416
|
0.00003
|
|
NM_000257.4(MYH7):c.3246-17T>A
|
rs766164113
|
0.00003
|
|
NM_000257.4(MYH7):c.3337-10G>A
|
rs397516181
|
0.00003
|
|
NM_000257.4(MYH7):c.3666C>T (p.Ser1222=)
|
rs397516191
|
0.00003
|
|
NM_000257.4(MYH7):c.366T>C (p.Cys122=)
|
rs1273010718
|
0.00003
|
|
NM_000257.4(MYH7):c.3726+13C>T
|
rs374300894
|
0.00003
|
|
NM_000257.4(MYH7):c.3726+17C>T
|
rs377463081
|
0.00003
|
|
NM_000257.4(MYH7):c.3753C>T (p.Thr1251=)
|
rs375948999
|
0.00003
|
|
NM_000257.4(MYH7):c.3853+14A>T
|
rs375422678
|
0.00003
|
|
NM_000257.4(MYH7):c.3973-9C>G
|
rs747711821
|
0.00003
|
|
NM_000257.4(MYH7):c.4065C>T (p.Ala1355=)
|
rs142469226
|
0.00003
|
|
NM_000257.4(MYH7):c.4170-15C>A
|
rs370438666
|
0.00003
|
|
NM_000257.4(MYH7):c.4215G>A (p.Glu1405=)
|
rs748551470
|
0.00003
|
|
NM_000257.4(MYH7):c.4354-20T>A
|
rs1466706878
|
0.00003
|
|
NM_000257.4(MYH7):c.4668C>A (p.Gly1556=)
|
rs762762532
|
0.00003
|
|
NM_000257.4(MYH7):c.4872G>A (p.Glu1624=)
|
rs766561921
|
0.00003
|
|
NM_000257.4(MYH7):c.5070C>G (p.Ala1690=)
|
rs764844610
|
0.00003
|
|
NM_000257.4(MYH7):c.5158-15C>T
|
rs369453980
|
0.00003
|
|
NM_000257.4(MYH7):c.5280G>A (p.Thr1760=)
|
rs374803185
|
0.00003
|
|
NM_000257.4(MYH7):c.531C>T (p.Thr177=)
|
rs200035152
|
0.00003
|
|
NM_000257.4(MYH7):c.5409C>T (p.Ile1803=)
|
rs779713933
|
0.00003
|
|
NM_000257.4(MYH7):c.540C>A (p.Ser180=)
|
rs369490861
|
0.00003
|
|
NM_000257.4(MYH7):c.5481G>A (p.Glu1827=)
|
rs368848344
|
0.00003
|
|
NM_000257.4(MYH7):c.5560-14C>A
|
rs375621171
|
0.00003
|
|
NM_000257.4(MYH7):c.5637G>A (p.Lys1879=)
|
rs367580423
|
0.00003
|
|
NM_000257.4(MYH7):c.5656-5C>T
|
rs200231434
|
0.00003
|
|
NM_000257.4(MYH7):c.733-9T>C
|
rs944780538
|
0.00003
|
|
NM_000257.4(MYH7):c.895+12C>T
|
rs186276057
|
0.00003
|
|
NM_000258.3(MYL3):c.130-10C>T
|
rs374988162
|
0.00003
|
|
NM_000258.3(MYL3):c.477G>A (p.Thr159=)
|
rs148365503
|
0.00003
|
|
NM_000258.3(MYL3):c.92G>A (p.Arg31His)
|
rs199639940
|
0.00003
|
|
NM_000337.6(SGCD):c.294+15A>C
|
rs377470284
|
0.00003
|
|
NM_000337.6(SGCD):c.783C>T (p.Phe261=)
|
rs768741617
|
0.00003
|
|
NM_000337.6(SGCD):c.798C>T (p.Cys266=)
|
rs371850230
|
0.00003
|
|
NM_000363.5(TNNI3):c.373-13C>T
|
rs771031464
|
0.00003
|
|
NM_000363.5(TNNI3):c.45A>C (p.Ala15=)
|
rs377421427
|
0.00003
|
|
NM_000363.5(TNNI3):c.516C>T (p.His172=)
|
rs764527627
|
0.00003
|
|
NM_000363.5(TNNI3):c.93G>C (p.Thr31=)
|
rs765719980
|
0.00003
|
|
NM_000371.4(TTR):c.267C>T (p.Tyr89=)
|
rs757950308
|
0.00003
|
|
NM_000371.4(TTR):c.405C>G (p.Ser135=)
|
rs760153126
|
0.00003
|
|
NM_000371.4(TTR):c.70-20C>T
|
rs773578107
|
0.00003
|
|
NM_000371.4(TTR):c.70-9T>C
|
rs764059061
|
0.00003
|
|
NM_000432.4(MYL2):c.354-18G>A
|
rs752927354
|
0.00003
|
|
NM_000432.4(MYL2):c.375G>A (p.Thr125=)
|
rs190020833
|
0.00003
|
|
NM_000432.4(MYL2):c.4-18G>A
|
rs730880933
|
0.00003
|
|
NM_000432.4(MYL2):c.48C>T (p.Asn16=)
|
rs552004172
|
0.00003
|
|
NM_000475.5(NR0B1):c.324G>A (p.Ser108=)
|
rs147442403
|
0.00003
|
|
NM_001005242.3(PKP2):c.1035-11del
|
rs1393167652
|
0.00003
|
|
NM_001005242.3(PKP2):c.1080C>T (p.Leu360=)
|
rs397516984
|
0.00003
|
|
NM_001005242.3(PKP2):c.1379-2011G>A
|
rs140301552
|
0.00003
|
|
NM_001005242.3(PKP2):c.1379-2056C>T
|
rs749052785
|
0.00003
|
|
NM_001005242.3(PKP2):c.1998G>A (p.Thr666=)
|
rs371089832
|
0.00003
|
|
NM_001005242.3(PKP2):c.2168-20T>G
|
rs759180353
|
0.00003
|
|
NM_001005242.3(PKP2):c.224-8G>T
|
rs1486692885
|
0.00003
|
|
NM_001005242.3(PKP2):c.2487C>T (p.Ala829=)
|
rs747191995
|
0.00003
|
|
NM_001005242.3(PKP2):c.360A>G (p.Glu120=)
|
rs764868621
|
0.00003
|
|
NM_001005242.3(PKP2):c.591C>T (p.Ser197=)
|
rs769438623
|
0.00003
|
|
NM_001018005.2(TPM1):c.241-8C>T
|
rs765893032
|
0.00003
|
|
NM_001018005.2(TPM1):c.474C>T (p.Ala158=)
|
rs143922069
|
0.00003
|
|
NM_001018005.2(TPM1):c.549T>C (p.Ala183=)
|
rs199476313
|
0.00003
|
|
NM_001018005.2(TPM1):c.563+16G>A
|
rs375227208
|
0.00003
|
|
NM_001018005.2(TPM1):c.564-12C>T
|
rs113591254
|
0.00003
|
|
NM_001018005.2(TPM1):c.845C>G (p.Thr282Ser)
|
rs397516395
|
0.00003
|
|
NM_001035.3(RYR2):c.1024G>A (p.Val342Met)
|
rs371898166
|
0.00003
|
|
NM_001035.3(RYR2):c.10323+16G>A
|
rs961862052
|
0.00003
|
|
NM_001035.3(RYR2):c.10495-10T>C
|
rs750850264
|
0.00003
|
|
NM_001035.3(RYR2):c.10709G>A (p.Arg3570Gln)
|
rs751520590
|
0.00003
|
|
NM_001035.3(RYR2):c.10725+9A>C
|
rs747973819
|
0.00003
|
|
NM_001035.3(RYR2):c.10936-13G>T
|
rs376086028
|
0.00003
|
|
NM_001035.3(RYR2):c.11208G>C (p.Ala3736=)
|
rs750384592
|
0.00003
|
|
NM_001035.3(RYR2):c.11730C>T (p.Ile3910=)
|
rs764373699
|
0.00003
|
|
NM_001035.3(RYR2):c.11877G>A (p.Ser3959=)
|
rs754610647
|
0.00003
|
|
NM_001035.3(RYR2):c.11G>C (p.Gly4Ala)
|
rs866878858
|
0.00003
|
|
NM_001035.3(RYR2):c.12027C>T (p.Asn4009=)
|
rs763374929
|
0.00003
|
|
NM_001035.3(RYR2):c.12075T>C (p.Asp4025=)
|
rs570554092
|
0.00003
|
|
NM_001035.3(RYR2):c.1241G>A (p.Arg414His)
|
rs371121679
|
0.00003
|
|
NM_001035.3(RYR2):c.12540C>T (p.Gly4180=)
|
rs772125105
|
0.00003
|
|
NM_001035.3(RYR2):c.13044G>A (p.Glu4348=)
|
rs559197657
|
0.00003
|
|
NM_001035.3(RYR2):c.13175A>G (p.Lys4392Arg)
|
rs753733164
|
0.00003
|
|
NM_001035.3(RYR2):c.13327G>A (p.Glu4443Lys)
|
rs1409192667
|
0.00003
|
|
NM_001035.3(RYR2):c.13593G>A (p.Lys4531=)
|
rs548313130
|
0.00003
|
|
NM_001035.3(RYR2):c.13672C>T (p.His4558Tyr)
|
rs773264033
|
0.00003
|
|
NM_001035.3(RYR2):c.14152-15G>A
|
rs371785571
|
0.00003
|
|
NM_001035.3(RYR2):c.14167G>A (p.Ala4723Thr)
|
rs397516514
|
0.00003
|
|
NM_001035.3(RYR2):c.14493C>T (p.Ile4831=)
|
rs375456172
|
0.00003
|
|
NM_001035.3(RYR2):c.14694C>T (p.Phe4898=)
|
rs542501813
|
0.00003
|
|
NM_001035.3(RYR2):c.1477-8C>T
|
rs876657575
|
0.00003
|
|
NM_001035.3(RYR2):c.1665C>T (p.Leu555=)
|
rs371262363
|
0.00003
|
|
NM_001035.3(RYR2):c.1674G>A (p.Leu558=)
|
rs1324895345
|
0.00003
|
|
NM_001035.3(RYR2):c.1773A>G (p.Glu591=)
|
rs1187362255
|
0.00003
|
|
NM_001035.3(RYR2):c.1962-13C>T
|
rs549804448
|
0.00003
|
|
NM_001035.3(RYR2):c.2396+10T>C
|
rs745329806
|
0.00003
|
|
NM_001035.3(RYR2):c.2544C>T (p.Arg848=)
|
rs748097250
|
0.00003
|
|
NM_001035.3(RYR2):c.3214+7T>G
|
rs748941127
|
0.00003
|
|
NM_001035.3(RYR2):c.3243C>T (p.Thr1081=)
|
rs771680871
|
0.00003
|
|
NM_001035.3(RYR2):c.3270C>G (p.Ala1090=)
|
rs1344074824
|
0.00003
|
|
NM_001035.3(RYR2):c.3361G>C (p.Gly1121Arg)
|
rs199682282
|
0.00003
|
|
NM_001035.3(RYR2):c.336A>G (p.Thr112=)
|
rs536426427
|
0.00003
|
|
NM_001035.3(RYR2):c.3423+6T>G
|
rs1057521957
|
0.00003
|
|
NM_001035.3(RYR2):c.3660T>A (p.Asp1220Glu)
|
rs1019112544
|
0.00003
|
|
NM_001035.3(RYR2):c.3808-10C>T
|
rs779454549
|
0.00003
|
|
NM_001035.3(RYR2):c.3822C>T (p.Asp1274=)
|
rs761365777
|
0.00003
|
|
NM_001035.3(RYR2):c.385-17del
|
rs771168005
|
0.00003
|
|
NM_001035.3(RYR2):c.4276-16T>C
|
rs772146128
|
0.00003
|
|
NM_001035.3(RYR2):c.4410A>G (p.Gly1470=)
|
rs727503399
|
0.00003
|
|
NM_001035.3(RYR2):c.464-13C>T
|
rs372610981
|
0.00003
|
|
NM_001035.3(RYR2):c.4684-6C>T
|
rs755712032
|
0.00003
|
|
NM_001035.3(RYR2):c.4689G>A (p.Val1563=)
|
rs1259232031
|
0.00003
|
|
NM_001035.3(RYR2):c.5001T>C (p.Leu1667=)
|
rs397516537
|
0.00003
|
|
NM_001035.3(RYR2):c.5169C>T (p.Asn1723=)
|
rs772441741
|
0.00003
|
|
NM_001035.3(RYR2):c.5570C>T (p.Pro1857Leu)
|
rs568198475
|
0.00003
|
|
NM_001035.3(RYR2):c.5774T>C (p.Ile1925Thr)
|
rs761505396
|
0.00003
|
|
NM_001035.3(RYR2):c.6172C>T (p.Leu2058=)
|
rs756447467
|
0.00003
|
|
NM_001035.3(RYR2):c.6441-15C>T
|
rs747176905
|
0.00003
|
|
NM_001035.3(RYR2):c.6627G>A (p.Gln2209=)
|
rs373686520
|
0.00003
|
|
NM_001035.3(RYR2):c.6936T>C (p.Ser2312=)
|
rs1282237936
|
0.00003
|
|
NM_001035.3(RYR2):c.708G>A (p.Leu236=)
|
rs773746218
|
0.00003
|
|
NM_001035.3(RYR2):c.7098C>T (p.Ser2366=)
|
rs375631485
|
0.00003
|
|
NM_001035.3(RYR2):c.7354G>A (p.Val2452Met)
|
rs377136047
|
0.00003
|
|
NM_001035.3(RYR2):c.7512+13C>T
|
rs777383641
|
0.00003
|
|
NM_001035.3(RYR2):c.7624G>T (p.Ala2542Ser)
|
rs373602064
|
0.00003
|
|
NM_001035.3(RYR2):c.8209-12C>A
|
rs767601681
|
0.00003
|
|
NM_001035.3(RYR2):c.8209-4T>C
|
rs371966353
|
0.00003
|
|
NM_001035.3(RYR2):c.837G>A (p.Thr279=)
|
rs769682840
|
0.00003
|
|
NM_001035.3(RYR2):c.8436+9T>G
|
rs371760672
|
0.00003
|
|
NM_001035.3(RYR2):c.849-13C>T
|
rs757524222
|
0.00003
|
|
NM_001035.3(RYR2):c.8913T>C (p.Ile2971=)
|
rs755520825
|
0.00003
|
|
NM_001035.3(RYR2):c.8936G>A (p.Arg2979His)
|
rs753179691
|
0.00003
|
|
NM_001035.3(RYR2):c.9018-11T>C
|
rs781149223
|
0.00003
|
|
NM_001035.3(RYR2):c.9189C>T (p.Asn3063=)
|
rs531651646
|
0.00003
|
|
NM_001035.3(RYR2):c.926T>C (p.Met309Thr)
|
rs542853582
|
0.00003
|
|
NM_001035.3(RYR2):c.9418T>G (p.Leu3140Val)
|
rs796586893
|
0.00003
|
|
NM_001035.3(RYR2):c.9441C>T (p.Tyr3147=)
|
rs760338814
|
0.00003
|
|
NM_001035.3(RYR2):c.9755A>G (p.His3252Arg)
|
rs760379293
|
0.00003
|
|
NM_001035.3(RYR2):c.9996G>A (p.Thr3332=)
|
rs760131228
|
0.00003
|
|
NM_001103.4(ACTN2):c.1162T>A (p.Trp388Arg)
|
rs376144003
|
0.00003
|
|
NM_001103.4(ACTN2):c.1180C>T (p.Arg394Trp)
|
rs559395092
|
0.00003
|
|
NM_001103.4(ACTN2):c.1287C>T (p.Tyr429=)
|
rs764881077
|
0.00003
|
|
NM_001103.4(ACTN2):c.1395G>A (p.Ala465=)
|
rs750674913
|
0.00003
|
|
NM_001103.4(ACTN2):c.1407-9T>C
|
rs1019401703
|
0.00003
|
|
NM_001103.4(ACTN2):c.1445G>A (p.Arg482Gln)
|
rs778023612
|
0.00003
|
|
NM_001103.4(ACTN2):c.1589A>G (p.Asn530Ser)
|
rs1384783399
|
0.00003
|
|
NM_001103.4(ACTN2):c.1671G>A (p.Ala557=)
|
rs772691130
|
0.00003
|
|
NM_001103.4(ACTN2):c.18C>T (p.Pro6=)
|
rs368367224
|
0.00003
|
|
NM_001103.4(ACTN2):c.1909C>T (p.Arg637Cys)
|
rs570051117
|
0.00003
|
|
NM_001103.4(ACTN2):c.1984C>T (p.Arg662Trp)
|
rs150021739
|
0.00003
|
|
NM_001103.4(ACTN2):c.2003C>G (p.Thr668Arg)
|
rs397516572
|
0.00003
|
|
NM_001103.4(ACTN2):c.2162G>A (p.Arg721His)
|
rs546431200
|
0.00003
|
|
NM_001103.4(ACTN2):c.2179C>G (p.Leu727Val)
|
rs767078596
|
0.00003
|
|
NM_001103.4(ACTN2):c.2194G>A (p.Ala732Thr)
|
rs777744290
|
0.00003
|
|
NM_001103.4(ACTN2):c.241+4G>A
|
rs561826525
|
0.00003
|
|
NM_001103.4(ACTN2):c.2425G>A (p.Val809Ile)
|
rs551605384
|
0.00003
|
|
NM_001103.4(ACTN2):c.2507G>A (p.Arg836Gln)
|
rs764315978
|
0.00003
|
|
NM_001103.4(ACTN2):c.2526+8T>C
|
rs760086675
|
0.00003
|
|
NM_001103.4(ACTN2):c.2551C>T (p.Arg851Cys)
|
rs141563497
|
0.00003
|
|
NM_001103.4(ACTN2):c.2555G>A (p.Arg852Gln)
|
rs727502888
|
0.00003
|
|
NM_001103.4(ACTN2):c.2560C>T (p.Leu854=)
|
rs370992948
|
0.00003
|
|
NM_001103.4(ACTN2):c.2567C>T (p.Pro856Leu)
|
rs375588211
|
0.00003
|
|
NM_001103.4(ACTN2):c.2676C>T (p.Ser892=)
|
rs397516578
|
0.00003
|
|
NM_001103.4(ACTN2):c.401T>C (p.Ile134Thr)
|
rs770368711
|
0.00003
|
|
NM_001103.4(ACTN2):c.645C>T (p.Ala215=)
|
rs781683654
|
0.00003
|
|
NM_001105206.3(LAMA4):c.1066T>C (p.Leu356=)
|
rs150727064
|
0.00003
|
|
NM_001105206.3(LAMA4):c.1338G>A (p.Glu446=)
|
rs566902248
|
0.00003
|
|
NM_001105206.3(LAMA4):c.1358-12A>G
|
rs397516716
|
0.00003
|
|
NM_001105206.3(LAMA4):c.150G>A (p.Thr50=)
|
rs538596272
|
0.00003
|
|
NM_001105206.3(LAMA4):c.3696+8C>T
|
rs782714768
|
0.00003
|
|
NM_001105206.3(LAMA4):c.393G>A (p.Pro131=)
|
rs782691713
|
0.00003
|
|
NM_001105206.3(LAMA4):c.4475+14C>T
|
rs782489593
|
0.00003
|
|
NM_001105206.3(LAMA4):c.5112+11A>C
|
rs782220223
|
0.00003
|
|
NM_001105206.3(LAMA4):c.824A>G (p.Lys275Arg)
|
rs183711657
|
0.00003
|
|
NM_001105206.3(LAMA4):c.828C>T (p.Cys276=)
|
rs782380339
|
0.00003
|
|
NM_001105206.3(LAMA4):c.945C>T (p.Asn315=)
|
rs782772720
|
0.00003
|
|
NM_001105206.3(LAMA4):c.996C>T (p.Tyr332=)
|
rs188272639
|
0.00003
|
|
NM_001105206.3(LAMA4):c.997G>A (p.Ala333Thr)
|
rs576711704
|
0.00003
|
|
NM_001122630.2(CDKN1C):c.105G>A (p.Leu35=)
|
rs762337324
|
0.00003
|
|
NM_001122630.2(CDKN1C):c.225G>C (p.Ser75=)
|
rs1015104953
|
0.00003
|
|
NM_001122630.2(CDKN1C):c.351C>T (p.Gly117=)
|
rs1465084800
|
0.00003
|
|
NM_001122630.2(CDKN1C):c.497T>C (p.Val166Ala)
|
rs1288020047
|
0.00003
|
|
NM_001122630.2(CDKN1C):c.546T>C (p.Ala182=)
|
rs1412788622
|
0.00003
|
|
NM_001122630.2(CDKN1C):c.637G>A (p.Ala213Thr)
|
rs528634940
|
0.00003
|
|
NM_001122630.2(CDKN1C):c.750C>A (p.Gly250=)
|
rs762619956
|
0.00003
|
|
NM_001122630.2(CDKN1C):c.885G>C (p.Ser295=)
|
rs1060503861
|
0.00003
|
|
NM_001122630.2(CDKN1C):c.888G>T (p.Val296=)
|
rs763529383
|
0.00003
|
|
NM_001130965.3(SUN1):c.1053+8G>T
|
rs750944051
|
0.00003
|
|
NM_001130965.3(SUN1):c.1239C>T (p.Asp413=)
|
rs373058985
|
0.00003
|
|
NM_001130965.3(SUN1):c.1326G>T (p.Leu442=)
|
rs375435638
|
0.00003
|
|
NM_001130965.3(SUN1):c.1854G>C (p.Leu618=)
|
rs544613266
|
0.00003
|
|
NM_001130965.3(SUN1):c.48G>A (p.Pro16=)
|
rs774055457
|
0.00003
|
|
NM_001130965.3(SUN1):c.948G>A (p.Ser316=)
|
rs776253918
|
0.00003
|
|
NM_001134363.3(RBM20):c.1056C>G (p.Pro352=)
|
rs397516590
|
0.00003
|
|
NM_001134363.3(RBM20):c.1066A>C (p.Thr356Pro)
|
rs1021465138
|
0.00003
|
|
NM_001134363.3(RBM20):c.1171G>A (p.Val391Met)
|
rs763101142
|
0.00003
|
|
NM_001134363.3(RBM20):c.1221C>G (p.Pro407=)
|
rs1243243290
|
0.00003
|
|
NM_001134363.3(RBM20):c.1308C>T (p.His436=)
|
rs189600634
|
0.00003
|
|
NM_001134363.3(RBM20):c.1429+10G>T
|
rs778742738
|
0.00003
|
|
NM_001134363.3(RBM20):c.1603G>A (p.Val535Ile)
|
rs183007628
|
0.00003
|
|
NM_001134363.3(RBM20):c.168C>T (p.Ala56=)
|
rs1424130999
|
0.00003
|
|
NM_001134363.3(RBM20):c.1815C>T (p.Ala605=)
|
rs577194741
|
0.00003
|
|
NM_001134363.3(RBM20):c.2043T>C (p.Tyr681=)
|
rs376380567
|
0.00003
|
|
NM_001134363.3(RBM20):c.2076C>T (p.Pro692=)
|
rs940799642
|
0.00003
|
|
NM_001134363.3(RBM20):c.2173G>A (p.Glu725Lys)
|
rs190416018
|
0.00003
|
|
NM_001134363.3(RBM20):c.2231A>G (p.Asn744Ser)
|
rs755241667
|
0.00003
|
|
NM_001134363.3(RBM20):c.2232C>T (p.Asn744=)
|
rs975320203
|
0.00003
|
|
NM_001134363.3(RBM20):c.2358C>T (p.Asp786=)
|
rs1045844360
|
0.00003
|
|
NM_001134363.3(RBM20):c.2664T>C (p.Asp888=)
|
rs397516605
|
0.00003
|
|
NM_001134363.3(RBM20):c.2905G>A (p.Val969Ile)
|
rs369747752
|
0.00003
|
|
NM_001134363.3(RBM20):c.3125C>T (p.Thr1042Ile)
|
rs757326885
|
0.00003
|
|
NM_001134363.3(RBM20):c.3169C>T (p.Arg1057Trp)
|
rs199830512
|
0.00003
|
|
NM_001134363.3(RBM20):c.3189G>A (p.Val1063=)
|
rs1179002998
|
0.00003
|
|
NM_001134363.3(RBM20):c.3226G>T (p.Ala1076Ser)
|
rs780673583
|
0.00003
|
|
NM_001134363.3(RBM20):c.541G>A (p.Gly181Arg)
|
rs543478618
|
0.00003
|
|
NM_001134363.3(RBM20):c.55C>A (p.Pro19Thr)
|
rs1353436698
|
0.00003
|
|
NM_001134363.3(RBM20):c.811G>A (p.Gly271Arg)
|
rs989951034
|
0.00003
|
|
NM_001159699.2(FHL1):c.549+7T>G
|
rs771700018
|
0.00003
|
|
NM_001159699.2(FHL1):c.792C>T (p.Tyr264=)
|
rs755385158
|
0.00003
|
|
NM_001159699.2(FHL1):c.816C>T (p.Ser272=)
|
rs758552293
|
0.00003
|
|
NM_001159699.2(FHL1):c.834G>A (p.Lys278=)
|
rs200510559
|
0.00003
|
|
NM_001161403.3(LIMS2):c.354C>T (p.Ala118=)
|
rs201972427
|
0.00003
|
|
NM_001161403.3(LIMS2):c.754-10C>T
|
rs377539811
|
0.00003
|
|
NM_001161403.3(LIMS2):c.897C>T (p.Phe299=)
|
rs375582487
|
0.00003
|
|
NM_001232.4(CASQ2):c.1188T>C (p.Asp396=)
|
rs751885773
|
0.00003
|
|
NM_001232.4(CASQ2):c.421-7A>T
|
rs776008006
|
0.00003
|
|
NM_001232.4(CASQ2):c.627G>A (p.Leu209=)
|
rs1291884749
|
0.00003
|
|
NM_001232.4(CASQ2):c.681C>T (p.Ile227=)
|
rs769189583
|
0.00003
|
|
NM_001267550.2(TTN):c.100116C>T (p.Phe33372=)
|
rs770089807
|
0.00003
|
|
NM_001267550.2(TTN):c.100284C>T (p.Tyr33428=)
|
rs1440086089
|
0.00003
|
|
NM_001267550.2(TTN):c.100398T>C (p.Arg33466=)
|
rs538623758
|
0.00003
|
|
NM_001267550.2(TTN):c.10110A>G (p.Gly3370=)
|
rs990895374
|
0.00003
|
|
NM_001267550.2(TTN):c.102645T>C (p.Tyr34215=)
|
rs763412391
|
0.00003
|
|
NM_001267550.2(TTN):c.102867A>G (p.Val34289=)
|
rs754236657
|
0.00003
|
|
NM_001267550.2(TTN):c.104812C>T (p.Leu34938=)
|
rs755726554
|
0.00003
|
|
NM_001267550.2(TTN):c.105084G>A (p.Thr35028=)
|
rs774968722
|
0.00003
|
|
NM_001267550.2(TTN):c.105141G>A (p.Glu35047=)
|
rs752897450
|
0.00003
|
|
NM_001267550.2(TTN):c.105813A>C (p.Pro35271=)
|
rs777268739
|
0.00003
|
|
NM_001267550.2(TTN):c.106020T>C (p.Gly35340=)
|
rs148865574
|
0.00003
|
|
NM_001267550.2(TTN):c.106134C>A (p.Ala35378=)
|
rs372562222
|
0.00003
|
|
NM_001267550.2(TTN):c.106563T>C (p.Ser35521=)
|
rs966023150
|
0.00003
|
|
NM_001267550.2(TTN):c.106662G>A (p.Glu35554=)
|
rs753862749
|
0.00003
|
|
NM_001267550.2(TTN):c.10679-18T>C
|
rs765478289
|
0.00003
|
|
NM_001267550.2(TTN):c.106827T>G (p.Ile35609Met)
|
rs727504540
|
0.00003
|
|
NM_001267550.2(TTN):c.107224-6T>C
|
rs368811159
|
0.00003
|
|
NM_001267550.2(TTN):c.107378-20G>A
|
rs372721750
|
0.00003
|
|
NM_001267550.2(TTN):c.11034A>G (p.Gln3678=)
|
rs753378142
|
0.00003
|
|
NM_001267550.2(TTN):c.11358C>T (p.Ser3786=)
|
rs746569739
|
0.00003
|
|
NM_001267550.2(TTN):c.11391A>G (p.Thr3797=)
|
rs373708340
|
0.00003
|
|
NM_001267550.2(TTN):c.1194G>T (p.Val398=)
|
rs753201701
|
0.00003
|
|
NM_001267550.2(TTN):c.12564C>A (p.Ala4188=)
|
rs547338168
|
0.00003
|
|
NM_001267550.2(TTN):c.12873C>G (p.Val4291=)
|
rs747114179
|
0.00003
|
|
NM_001267550.2(TTN):c.13020G>T (p.Leu4340=)
|
rs369937083
|
0.00003
|
|
NM_001267550.2(TTN):c.13371C>T (p.Ile4457=)
|
rs570991398
|
0.00003
|
|
NM_001267550.2(TTN):c.13602G>A (p.Glu4534=)
|
rs778884752
|
0.00003
|
|
NM_001267550.2(TTN):c.1398+5G>A
|
rs542965530
|
0.00003
|
|
NM_001267550.2(TTN):c.13980G>A (p.Thr4660=)
|
rs1384061855
|
0.00003
|
|
NM_001267550.2(TTN):c.14093-4G>A
|
rs373530196
|
0.00003
|
|
NM_001267550.2(TTN):c.14339G>A (p.Ser4780Asn)
|
rs147879266
|
0.00003
|
|
NM_001267550.2(TTN):c.14973T>C (p.Tyr4991=)
|
rs761666344
|
0.00003
|
|
NM_001267550.2(TTN):c.15177C>T (p.Asp5059=)
|
rs74607159
|
0.00003
|
|
NM_001267550.2(TTN):c.15396G>C (p.Leu5132=)
|
rs754263189
|
0.00003
|
|
NM_001267550.2(TTN):c.16368C>T (p.Pro5456=)
|
rs745942343
|
0.00003
|
|
NM_001267550.2(TTN):c.16563A>G (p.Thr5521=)
|
rs886055297
|
0.00003
|
|
NM_001267550.2(TTN):c.16752T>A (p.Ile5584=)
|
rs758374634
|
0.00003
|
|
NM_001267550.2(TTN):c.16863G>A (p.Glu5621=)
|
rs727504441
|
0.00003
|
|
NM_001267550.2(TTN):c.17228G>A (p.Arg5743Gln)
|
rs753892271
|
0.00003
|
|
NM_001267550.2(TTN):c.18396T>C (p.Thr6132=)
|
rs534008239
|
0.00003
|
|
NM_001267550.2(TTN):c.18510A>G (p.Val6170=)
|
rs761425332
|
0.00003
|
|
NM_001267550.2(TTN):c.18590-14T>G
|
rs781455893
|
0.00003
|
|
NM_001267550.2(TTN):c.18645C>T (p.Asp6215=)
|
rs372400829
|
0.00003
|
|
NM_001267550.2(TTN):c.18657G>A (p.Glu6219=)
|
rs1282711943
|
0.00003
|
|
NM_001267550.2(TTN):c.19728C>T (p.Phe6576=)
|
rs751902051
|
0.00003
|
|
NM_001267550.2(TTN):c.19818A>G (p.Lys6606=)
|
rs397517492
|
0.00003
|
|
NM_001267550.2(TTN):c.19922C>A (p.Thr6641Asn)
|
rs747240394
|
0.00003
|
|
NM_001267550.2(TTN):c.20276-11G>A
|
rs567693576
|
0.00003
|
|
NM_001267550.2(TTN):c.20367G>T (p.Pro6789=)
|
rs368422028
|
0.00003
|
|
NM_001267550.2(TTN):c.20397G>A (p.Arg6799=)
|
rs376573256
|
0.00003
|
|
NM_001267550.2(TTN):c.20555-14C>G
|
rs561240119
|
0.00003
|
|
NM_001267550.2(TTN):c.20730A>G (p.Ala6910=)
|
rs561371744
|
0.00003
|
|
NM_001267550.2(TTN):c.21013T>C (p.Leu7005=)
|
rs774841915
|
0.00003
|
|
NM_001267550.2(TTN):c.21132C>T (p.Pro7044=)
|
rs1393914410
|
0.00003
|
|
NM_001267550.2(TTN):c.21363C>T (p.Val7121=)
|
rs751090506
|
0.00003
|
|
NM_001267550.2(TTN):c.22240+7A>C
|
rs368101794
|
0.00003
|
|
NM_001267550.2(TTN):c.22500A>T (p.Ala7500=)
|
rs757003919
|
0.00003
|
|
NM_001267550.2(TTN):c.22734C>A (p.Gly7578=)
|
rs747844754
|
0.00003
|
|
NM_001267550.2(TTN):c.2310G>T (p.Gln770His)
|
rs541547610
|
0.00003
|
|
NM_001267550.2(TTN):c.23433T>C (p.Ala7811=)
|
rs770591753
|
0.00003
|
|
NM_001267550.2(TTN):c.2370+9A>G
|
rs373443384
|
0.00003
|
|
NM_001267550.2(TTN):c.23844C>A (p.Ile7948=)
|
rs536536380
|
0.00003
|
|
NM_001267550.2(TTN):c.23938+14G>C
|
rs752417465
|
0.00003
|
|
NM_001267550.2(TTN):c.2397G>A (p.Thr799=)
|
rs369313128
|
0.00003
|
|
NM_001267550.2(TTN):c.24621C>T (p.Asp8207=)
|
rs751733811
|
0.00003
|
|
NM_001267550.2(TTN):c.24675T>G (p.Ser8225=)
|
rs1304608171
|
0.00003
|
|
NM_001267550.2(TTN):c.24951C>T (p.Asn8317=)
|
rs370154022
|
0.00003
|
|
NM_001267550.2(TTN):c.25002T>C (p.Tyr8334=)
|
rs371334680
|
0.00003
|
|
NM_001267550.2(TTN):c.2670C>T (p.Tyr890=)
|
rs879035696
|
0.00003
|
|
NM_001267550.2(TTN):c.26814A>G (p.Leu8938=)
|
rs764770520
|
0.00003
|
|
NM_001267550.2(TTN):c.2685C>T (p.Gly895=)
|
rs139501351
|
0.00003
|
|
NM_001267550.2(TTN):c.27174A>G (p.Glu9058=)
|
rs746874191
|
0.00003
|
|
NM_001267550.2(TTN):c.27186T>G (p.Gly9062=)
|
rs745874179
|
0.00003
|
|
NM_001267550.2(TTN):c.27246T>C (p.Asp9082=)
|
rs183503760
|
0.00003
|
|
NM_001267550.2(TTN):c.2784A>G (p.Glu928=)
|
rs727504211
|
0.00003
|
|
NM_001267550.2(TTN):c.27G>A (p.Thr9=)
|
rs760305568
|
0.00003
|
|
NM_001267550.2(TTN):c.28677C>T (p.Asn9559=)
|
rs775065173
|
0.00003
|
|
NM_001267550.2(TTN):c.28818C>T (p.Tyr9606=)
|
rs374117152
|
0.00003
|
|
NM_001267550.2(TTN):c.28836T>C (p.His9612=)
|
rs566777873
|
0.00003
|
|
NM_001267550.2(TTN):c.29145G>A (p.Ala9715=)
|
rs772838978
|
0.00003
|
|
NM_001267550.2(TTN):c.29658T>G (p.Leu9886=)
|
rs372392376
|
0.00003
|
|
NM_001267550.2(TTN):c.29950C>T (p.Leu9984=)
|
rs765561226
|
0.00003
|
|
NM_001267550.2(TTN):c.29970A>G (p.Ala9990=)
|
rs773217500
|
0.00003
|
|
NM_001267550.2(TTN):c.30129T>C (p.His10043=)
|
rs764724866
|
0.00003
|
|
NM_001267550.2(TTN):c.30702G>A (p.Lys10234=)
|
rs573246972
|
0.00003
|
|
NM_001267550.2(TTN):c.30768G>A (p.Lys10256=)
|
rs762404146
|
0.00003
|
|
NM_001267550.2(TTN):c.30951C>T (p.Phe10317=)
|
rs952564944
|
0.00003
|
|
NM_001267550.2(TTN):c.31035T>C (p.Tyr10345=)
|
rs370198609
|
0.00003
|
|
NM_001267550.2(TTN):c.31134C>T (p.Asp10378=)
|
rs892684142
|
0.00003
|
|
NM_001267550.2(TTN):c.31349-4A>T
|
rs1029227575
|
0.00003
|
|
NM_001267550.2(TTN):c.3165-17G>A
|
rs754654936
|
0.00003
|
|
NM_001267550.2(TTN):c.31678+20A>G
|
rs1057508878
|
0.00003
|
|
NM_001267550.2(TTN):c.32095+20T>C
|
rs768705255
|
0.00003
|
|
NM_001267550.2(TTN):c.32202T>C (p.Ser10734=)
|
rs879101587
|
0.00003
|
|
NM_001267550.2(TTN):c.32463G>T (p.Pro10821=)
|
rs987167890
|
0.00003
|
|
NM_001267550.2(TTN):c.32555-12G>T
|
rs397517540
|
0.00003
|
|
NM_001267550.2(TTN):c.33172+14A>G
|
rs752797605
|
0.00003
|
|
NM_001267550.2(TTN):c.33330C>T (p.Pro11110=)
|
rs751014194
|
0.00003
|
|
NM_001267550.2(TTN):c.33660A>C (p.Ala11220=)
|
rs764664976
|
0.00003
|
|
NM_001267550.2(TTN):c.33966G>A (p.Pro11322=)
|
rs373083865
|
0.00003
|
|
NM_001267550.2(TTN):c.33994+19G>C
|
rs573337231
|
0.00003
|
|
NM_001267550.2(TTN):c.34134A>G (p.Leu11378=)
|
rs575740245
|
0.00003
|
|
NM_001267550.2(TTN):c.34341C>T (p.Pro11447=)
|
rs369715093
|
0.00003
|
|
NM_001267550.2(TTN):c.35133A>G (p.Glu11711=)
|
rs377420286
|
0.00003
|
|
NM_001267550.2(TTN):c.35309-13A>G
|
rs1369481538
|
0.00003
|
|
NM_001267550.2(TTN):c.35391C>A (p.Pro11797=)
|
rs748919007
|
0.00003
|
|
NM_001267550.2(TTN):c.36207G>A (p.Pro12069=)
|
rs370960330
|
0.00003
|
|
NM_001267550.2(TTN):c.36231G>A (p.Pro12077=)
|
rs367771375
|
0.00003
|
|
NM_001267550.2(TTN):c.36281-11T>C
|
rs763712438
|
0.00003
|
|
NM_001267550.2(TTN):c.36513T>A (p.Pro12171=)
|
rs764487519
|
0.00003
|
|
NM_001267550.2(TTN):c.36616+18G>T
|
rs761330661
|
0.00003
|
|
NM_001267550.2(TTN):c.3670T>C (p.Leu1224=)
|
rs764873258
|
0.00003
|
|
NM_001267550.2(TTN):c.3720A>G (p.Val1240=)
|
rs1467298954
|
0.00003
|
|
NM_001267550.2(TTN):c.37248G>A (p.Ser12416=)
|
rs201654513
|
0.00003
|
|
NM_001267550.2(TTN):c.37758T>A (p.Ala12586=)
|
rs1308714314
|
0.00003
|
|
NM_001267550.2(TTN):c.37980C>T (p.Val12660=)
|
rs1233379856
|
0.00003
|
|
NM_001267550.2(TTN):c.38136A>G (p.Pro12712=)
|
rs1392090574
|
0.00003
|
|
NM_001267550.2(TTN):c.38181C>T (p.Pro12727=)
|
rs1378163913
|
0.00003
|
|
NM_001267550.2(TTN):c.38505C>T (p.Pro12835=)
|
rs745664297
|
0.00003
|
|
NM_001267550.2(TTN):c.38627-15C>T
|
rs1186212898
|
0.00003
|
|
NM_001267550.2(TTN):c.38856T>G (p.Pro12952=)
|
rs753817117
|
0.00003
|
|
NM_001267550.2(TTN):c.38931T>G (p.Pro12977=)
|
rs369631190
|
0.00003
|
|
NM_001267550.2(TTN):c.39066T>A (p.Val13022=)
|
rs759383677
|
0.00003
|
|
NM_001267550.2(TTN):c.39216A>C (p.Pro13072=)
|
rs749227850
|
0.00003
|
|
NM_001267550.2(TTN):c.39463+18T>G
|
rs550378650
|
0.00003
|
|
NM_001267550.2(TTN):c.39493G>A (p.Glu13165Lys)
|
rs747566528
|
0.00003
|
|
NM_001267550.2(TTN):c.39895+16del
|
rs761838184
|
0.00003
|
|
NM_001267550.2(TTN):c.39895+8T>C
|
rs990600164
|
0.00003
|
|
NM_001267550.2(TTN):c.40065A>G (p.Lys13355=)
|
rs1396223140
|
0.00003
|
|
NM_001267550.2(TTN):c.40092G>A (p.Lys13364=)
|
rs1424521442
|
0.00003
|
|
NM_001267550.2(TTN):c.40773A>G (p.Pro13591=)
|
rs368521608
|
0.00003
|
|
NM_001267550.2(TTN):c.41310G>A (p.Thr13770=)
|
rs556498170
|
0.00003
|
|
NM_001267550.2(TTN):c.41703T>C (p.Thr13901=)
|
rs756282138
|
0.00003
|
|
NM_001267550.2(TTN):c.42336T>C (p.Asn14112=)
|
rs778310352
|
0.00003
|
|
NM_001267550.2(TTN):c.44281+8T>C
|
rs369121980
|
0.00003
|
|
NM_001267550.2(TTN):c.44349C>T (p.Phe14783=)
|
rs367744803
|
0.00003
|
|
NM_001267550.2(TTN):c.44367C>T (p.Tyr14789=)
|
rs750270873
|
0.00003
|
|
NM_001267550.2(TTN):c.44592C>T (p.Val14864=)
|
rs397517578
|
0.00003
|
|
NM_001267550.2(TTN):c.44813T>C (p.Val14938Ala)
|
rs571522834
|
0.00003
|
|
NM_001267550.2(TTN):c.44816-4A>G
|
rs771255067
|
0.00003
|
|
NM_001267550.2(TTN):c.44916T>A (p.Val14972=)
|
rs373390402
|
0.00003
|
|
NM_001267550.2(TTN):c.45567C>T (p.Tyr15189=)
|
rs1455525236
|
0.00003
|
|
NM_001267550.2(TTN):c.45779T>C (p.Leu15260Pro)
|
rs552053581
|
0.00003
|
|
NM_001267550.2(TTN):c.46221C>T (p.Asp15407=)
|
rs370808856
|
0.00003
|
|
NM_001267550.2(TTN):c.46697-19_46697-18del
|
rs530484268
|
0.00003
|
|
NM_001267550.2(TTN):c.46847C>T (p.Thr15616Met)
|
rs368057764
|
0.00003
|
|
NM_001267550.2(TTN):c.48021C>T (p.Asp16007=)
|
rs368404578
|
0.00003
|
|
NM_001267550.2(TTN):c.48258G>A (p.Pro16086=)
|
rs373909192
|
0.00003
|
|
NM_001267550.2(TTN):c.48461-18C>G
|
rs759697221
|
0.00003
|
|
NM_001267550.2(TTN):c.48915T>A (p.Ile16305=)
|
rs752761527
|
0.00003
|
|
NM_001267550.2(TTN):c.48987T>C (p.Tyr16329=)
|
rs773944885
|
0.00003
|
|
NM_001267550.2(TTN):c.49377T>A (p.Pro16459=)
|
rs564712731
|
0.00003
|
|
NM_001267550.2(TTN):c.49395C>T (p.Asp16465=)
|
rs749308557
|
0.00003
|
|
NM_001267550.2(TTN):c.49527A>G (p.Thr16509=)
|
rs727505248
|
0.00003
|
|
NM_001267550.2(TTN):c.50355-15T>C
|
rs757425897
|
0.00003
|
|
NM_001267550.2(TTN):c.50669A>C (p.Glu16890Ala)
|
rs752204728
|
0.00003
|
|
NM_001267550.2(TTN):c.50858-10T>C
|
rs758214540
|
0.00003
|
|
NM_001267550.2(TTN):c.51739+20G>A
|
rs571361599
|
0.00003
|
|
NM_001267550.2(TTN):c.51873G>A (p.Glu17291=)
|
rs766833190
|
0.00003
|
|
NM_001267550.2(TTN):c.52242C>T (p.Pro17414=)
|
rs765216874
|
0.00003
|
|
NM_001267550.2(TTN):c.52305G>A (p.Leu17435=)
|
rs759498383
|
0.00003
|
|
NM_001267550.2(TTN):c.52929G>A (p.Arg17643=)
|
rs750808639
|
0.00003
|
|
NM_001267550.2(TTN):c.5295C>T (p.Gly1765=)
|
rs145999395
|
0.00003
|
|
NM_001267550.2(TTN):c.52962G>A (p.Pro17654=)
|
rs773148195
|
0.00003
|
|
NM_001267550.2(TTN):c.53100T>G (p.Pro17700=)
|
rs373140387
|
0.00003
|
|
NM_001267550.2(TTN):c.53439A>G (p.Gln17813=)
|
rs755191182
|
0.00003
|
|
NM_001267550.2(TTN):c.54054G>A (p.Lys18018=)
|
rs761146363
|
0.00003
|
|
NM_001267550.2(TTN):c.54222T>C (p.Val18074=)
|
rs568765317
|
0.00003
|
|
NM_001267550.2(TTN):c.55206C>A (p.Ile18402=)
|
rs368272978
|
0.00003
|
|
NM_001267550.2(TTN):c.56403A>G (p.Gln18801=)
|
rs553313488
|
0.00003
|
|
NM_001267550.2(TTN):c.56454A>C (p.Thr18818=)
|
rs374058011
|
0.00003
|
|
NM_001267550.2(TTN):c.57848-4G>A
|
rs369462016
|
0.00003
|
|
NM_001267550.2(TTN):c.57848-9T>C
|
rs1404639698
|
0.00003
|
|
NM_001267550.2(TTN):c.58432+17G>A
|
rs759128616
|
0.00003
|
|
NM_001267550.2(TTN):c.59859G>A (p.Ala19953=)
|
rs759120495
|
0.00003
|
|
NM_001267550.2(TTN):c.59927-19T>A
|
rs772730956
|
0.00003
|
|
NM_001267550.2(TTN):c.59946G>A (p.Lys19982=)
|
rs772284158
|
0.00003
|
|
NM_001267550.2(TTN):c.60954G>A (p.Val20318=)
|
rs748022439
|
0.00003
|
|
NM_001267550.2(TTN):c.60963C>T (p.Asn20321=)
|
rs776977331
|
0.00003
|
|
NM_001267550.2(TTN):c.60975C>T (p.Ile20325=)
|
rs727505195
|
0.00003
|
|
NM_001267550.2(TTN):c.6163G>A (p.Glu2055Lys)
|
rs763733251
|
0.00003
|
|
NM_001267550.2(TTN):c.62011G>A (p.Glu20671Lys)
|
rs770684884
|
0.00003
|
|
NM_001267550.2(TTN):c.62274G>A (p.Glu20758=)
|
rs1313786414
|
0.00003
|
|
NM_001267550.2(TTN):c.62703A>G (p.Leu20901=)
|
rs749180542
|
0.00003
|
|
NM_001267550.2(TTN):c.62901T>C (p.Pro20967=)
|
rs1245531460
|
0.00003
|
|
NM_001267550.2(TTN):c.63330G>A (p.Ala21110=)
|
rs727504885
|
0.00003
|
|
NM_001267550.2(TTN):c.63483A>G (p.Glu21161=)
|
rs747885095
|
0.00003
|
|
NM_001267550.2(TTN):c.64047C>T (p.Gly21349=)
|
rs775357802
|
0.00003
|
|
NM_001267550.2(TTN):c.6490G>A (p.Ala2164Thr)
|
rs56285559
|
0.00003
|
|
NM_001267550.2(TTN):c.6504C>G (p.Val2168=)
|
rs760959263
|
0.00003
|
|
NM_001267550.2(TTN):c.65276-16C>T
|
rs370634364
|
0.00003
|
|
NM_001267550.2(TTN):c.65559T>C (p.Thr21853=)
|
rs781466821
|
0.00003
|
|
NM_001267550.2(TTN):c.65864-13C>A
|
rs368507077
|
0.00003
|
|
NM_001267550.2(TTN):c.66057A>G (p.Lys22019=)
|
rs372989710
|
0.00003
|
|
NM_001267550.2(TTN):c.66622T>C (p.Leu22208=)
|
rs745856872
|
0.00003
|
|
NM_001267550.2(TTN):c.66804G>A (p.Arg22268=)
|
rs370501197
|
0.00003
|
|
NM_001267550.2(TTN):c.67537T>C (p.Leu22513=)
|
rs727504507
|
0.00003
|
|
NM_001267550.2(TTN):c.67637-6T>C
|
rs759070877
|
0.00003
|
|
NM_001267550.2(TTN):c.68154C>T (p.Val22718=)
|
rs755685437
|
0.00003
|
|
NM_001267550.2(TTN):c.68382C>T (p.Asn22794=)
|
rs528503786
|
0.00003
|
|
NM_001267550.2(TTN):c.68607T>C (p.Gly22869=)
|
rs772421669
|
0.00003
|
|
NM_001267550.2(TTN):c.69015T>C (p.Leu23005=)
|
rs766315045
|
0.00003
|
|
NM_001267550.2(TTN):c.69210A>G (p.Ser23070=)
|
rs754292352
|
0.00003
|
|
NM_001267550.2(TTN):c.6972G>A (p.Thr2324=)
|
rs772147880
|
0.00003
|
|
NM_001267550.2(TTN):c.69768T>C (p.Ser23256=)
|
rs182679164
|
0.00003
|
|
NM_001267550.2(TTN):c.70044C>T (p.Ala23348=)
|
rs771534964
|
0.00003
|
|
NM_001267550.2(TTN):c.70194T>C (p.Thr23398=)
|
rs764734126
|
0.00003
|
|
NM_001267550.2(TTN):c.7026G>A (p.Gly2342=)
|
rs764861642
|
0.00003
|
|
NM_001267550.2(TTN):c.70578C>T (p.Pro23526=)
|
rs956873465
|
0.00003
|
|
NM_001267550.2(TTN):c.71793A>G (p.Pro23931=)
|
rs780920316
|
0.00003
|
|
NM_001267550.2(TTN):c.71922C>T (p.Ala23974=)
|
rs879179764
|
0.00003
|
|
NM_001267550.2(TTN):c.72312G>A (p.Ala24104=)
|
rs763710399
|
0.00003
|
|
NM_001267550.2(TTN):c.72819C>T (p.Asn24273=)
|
rs575014550
|
0.00003
|
|
NM_001267550.2(TTN):c.72C>G (p.Thr24=)
|
rs876657615
|
0.00003
|
|
NM_001267550.2(TTN):c.73158C>A (p.Ile24386=)
|
rs879249050
|
0.00003
|
|
NM_001267550.2(TTN):c.7338C>T (p.Asp2446=)
|
rs375160102
|
0.00003
|
|
NM_001267550.2(TTN):c.73449G>T (p.Leu24483=)
|
rs1359097374
|
0.00003
|
|
NM_001267550.2(TTN):c.74112T>C (p.Ser24704=)
|
rs397517697
|
0.00003
|
|
NM_001267550.2(TTN):c.74784A>G (p.Gln24928=)
|
rs571185863
|
0.00003
|
|
NM_001267550.2(TTN):c.74832T>C (p.His24944=)
|
rs1302451459
|
0.00003
|
|
NM_001267550.2(TTN):c.74961C>T (p.Asn24987=)
|
rs754043680
|
0.00003
|
|
NM_001267550.2(TTN):c.7533C>T (p.Asp2511=)
|
rs878878455
|
0.00003
|
|
NM_001267550.2(TTN):c.76674T>C (p.Asp25558=)
|
rs375553630
|
0.00003
|
|
NM_001267550.2(TTN):c.76713C>T (p.Val25571=)
|
rs372229365
|
0.00003
|
|
NM_001267550.2(TTN):c.77040G>A (p.Glu25680=)
|
rs988760489
|
0.00003
|
|
NM_001267550.2(TTN):c.77541C>T (p.Thr25847=)
|
rs556181023
|
0.00003
|
|
NM_001267550.2(TTN):c.77601A>G (p.Gln25867=)
|
rs777276284
|
0.00003
|
|
NM_001267550.2(TTN):c.78117G>A (p.Lys26039=)
|
rs772900049
|
0.00003
|
|
NM_001267550.2(TTN):c.78315C>T (p.Ile26105=)
|
rs776432135
|
0.00003
|
|
NM_001267550.2(TTN):c.78780T>C (p.Asp26260=)
|
rs752578224
|
0.00003
|
|
NM_001267550.2(TTN):c.78993A>G (p.Arg26331=)
|
rs745659756
|
0.00003
|
|
NM_001267550.2(TTN):c.79107T>G (p.Val26369=)
|
rs757441770
|
0.00003
|
|
NM_001267550.2(TTN):c.79117T>C (p.Leu26373=)
|
rs749452514
|
0.00003
|
|
NM_001267550.2(TTN):c.79212C>T (p.Thr26404=)
|
rs778020953
|
0.00003
|
|
NM_001267550.2(TTN):c.79701C>T (p.Asn26567=)
|
rs376808846
|
0.00003
|
|
NM_001267550.2(TTN):c.80592A>G (p.Pro26864=)
|
rs769223218
|
0.00003
|
|
NM_001267550.2(TTN):c.82614T>C (p.His27538=)
|
rs771474614
|
0.00003
|
|
NM_001267550.2(TTN):c.82842G>A (p.Ala27614=)
|
rs370505439
|
0.00003
|
|
NM_001267550.2(TTN):c.83778A>G (p.Leu27926=)
|
rs757588009
|
0.00003
|
|
NM_001267550.2(TTN):c.85095C>T (p.Asp28365=)
|
rs371602289
|
0.00003
|
|
NM_001267550.2(TTN):c.85389C>T (p.Leu28463=)
|
rs144731702
|
0.00003
|
|
NM_001267550.2(TTN):c.8604C>T (p.Val2868=)
|
rs753733308
|
0.00003
|
|
NM_001267550.2(TTN):c.86682T>C (p.Ser28894=)
|
rs771483938
|
0.00003
|
|
NM_001267550.2(TTN):c.88398C>G (p.Gly29466=)
|
rs776559329
|
0.00003
|
|
NM_001267550.2(TTN):c.88894+15C>T
|
rs761704497
|
0.00003
|
|
NM_001267550.2(TTN):c.89295T>C (p.Ala29765=)
|
rs375374658
|
0.00003
|
|
NM_001267550.2(TTN):c.89313C>T (p.Val29771=)
|
rs746897918
|
0.00003
|
|
NM_001267550.2(TTN):c.89796C>T (p.Asp29932=)
|
rs376478710
|
0.00003
|
|
NM_001267550.2(TTN):c.90180C>T (p.Ser30060=)
|
rs1171957663
|
0.00003
|
|
NM_001267550.2(TTN):c.90198T>G (p.Val30066=)
|
rs761842174
|
0.00003
|
|
NM_001267550.2(TTN):c.90747T>C (p.Pro30249=)
|
rs765024828
|
0.00003
|
|
NM_001267550.2(TTN):c.90913T>C (p.Tyr30305His)
|
rs544353741
|
0.00003
|
|
NM_001267550.2(TTN):c.91564+20T>C
|
rs770556280
|
0.00003
|
|
NM_001267550.2(TTN):c.91620C>T (p.Ser30540=)
|
rs750041507
|
0.00003
|
|
NM_001267550.2(TTN):c.91731C>T (p.Asp30577=)
|
rs727505073
|
0.00003
|
|
NM_001267550.2(TTN):c.91782T>C (p.Arg30594=)
|
rs374345957
|
0.00003
|
|
NM_001267550.2(TTN):c.92895C>T (p.Asn30965=)
|
rs1379558944
|
0.00003
|
|
NM_001267550.2(TTN):c.9305+11T>C
|
rs779826179
|
0.00003
|
|
NM_001267550.2(TTN):c.93570T>C (p.Asn31190=)
|
rs746309005
|
0.00003
|
|
NM_001267550.2(TTN):c.93585T>C (p.Ser31195=)
|
rs754614591
|
0.00003
|
|
NM_001267550.2(TTN):c.9423T>C (p.Phe3141=)
|
rs766671126
|
0.00003
|
|
NM_001267550.2(TTN):c.94452T>C (p.Tyr31484=)
|
rs763668385
|
0.00003
|
|
NM_001267550.2(TTN):c.95416+8T>C
|
rs373857496
|
0.00003
|
|
NM_001267550.2(TTN):c.96028+17C>A
|
rs1370661769
|
0.00003
|
|
NM_001267550.2(TTN):c.96310+11T>C
|
rs397517764
|
0.00003
|
|
NM_001267550.2(TTN):c.96384T>C (p.Ile32128=)
|
rs757368075
|
0.00003
|
|
NM_001267550.2(TTN):c.96399T>C (p.Gly32133=)
|
rs371827750
|
0.00003
|
|
NM_001267550.2(TTN):c.96525C>T (p.Tyr32175=)
|
rs778126823
|
0.00003
|
|
NM_001267550.2(TTN):c.96906G>A (p.Val32302=)
|
rs200276343
|
0.00003
|
|
NM_001267550.2(TTN):c.96921T>C (p.Asp32307=)
|
rs771385738
|
0.00003
|
|
NM_001267550.2(TTN):c.96960T>C (p.Ala32320=)
|
rs141431591
|
0.00003
|
|
NM_001267550.2(TTN):c.97323C>T (p.Asp32441=)
|
rs749961745
|
0.00003
|
|
NM_001267550.2(TTN):c.98022C>T (p.Arg32674=)
|
rs372825562
|
0.00003
|
|
NM_001267550.2(TTN):c.98292A>G (p.Glu32764=)
|
rs750078230
|
0.00003
|
|
NM_001267550.2(TTN):c.9884C>T (p.Thr3295Met)
|
rs191708454
|
0.00003
|
|
NM_001267550.2(TTN):c.9908C>T (p.Pro3303Leu)
|
rs201379132
|
0.00003
|
|
NM_001267550.2(TTN):c.99261T>G (p.Thr33087=)
|
rs768948785
|
0.00003
|
|
NM_001267550.2(TTN):c.99290-6G>T
|
rs727504987
|
0.00003
|
|
NM_001267550.2(TTN):c.99405C>T (p.Tyr33135=)
|
rs373722322
|
0.00003
|
|
NM_001267550.2(TTN):c.99552C>A (p.Thr33184=)
|
rs775848810
|
0.00003
|
|
NM_001267550.2(TTN):c.99840T>C (p.Asp33280=)
|
rs375178211
|
0.00003
|
|
NM_001276345.2(TNNT2):c.164-14C>T
|
rs778709814
|
0.00003
|
|
NM_001276345.2(TNNT2):c.435C>T (p.Ala145=)
|
rs375675827
|
0.00003
|
|
NM_001276345.2(TNNT2):c.52+12C>T
|
rs199865577
|
0.00003
|
|
NM_001276345.2(TNNT2):c.552G>A (p.Lys184=)
|
rs566113559
|
0.00003
|
|
NM_001276345.2(TNNT2):c.601-6G>A
|
rs760197357
|
0.00003
|
|
NM_001276345.2(TNNT2):c.96C>T (p.Asp32=)
|
rs751728017
|
0.00003
|
|
NM_001289808.2(CRYAB):c.201+14C>G
|
rs782207762
|
0.00003
|
|
NM_001318895.3(FHL2):c.156+11C>T
|
rs371829274
|
0.00003
|
|
NM_001318895.3(FHL2):c.261G>C (p.Leu87=)
|
rs758881698
|
0.00003
|
|
NM_001318895.3(FHL2):c.33C>T (p.Asn11=)
|
rs760104483
|
0.00003
|
|
NM_001318895.3(FHL2):c.462T>C (p.Tyr154=)
|
rs397517960
|
0.00003
|
|
NM_001386795.1(DTNA):c.149-15C>G
|
rs752608761
|
0.00003
|
|
NM_001386795.1(DTNA):c.449-19T>G
|
rs1469662484
|
0.00003
|
|
NM_001386795.1(DTNA):c.68-7G>A
|
rs372126412
|
0.00003
|
|
NM_001458.5(FLNC):c.1074C>T (p.Asn358=)
|
rs776805988
|
0.00003
|
|
NM_001458.5(FLNC):c.1239G>A (p.Val413=)
|
rs774716505
|
0.00003
|
|
NM_001458.5(FLNC):c.1305G>A (p.Thr435=)
|
rs779890960
|
0.00003
|
|
NM_001458.5(FLNC):c.1348G>A (p.Val450Met)
|
rs747550431
|
0.00003
|
|
NM_001458.5(FLNC):c.1381C>T (p.Arg461Cys)
|
rs766999669
|
0.00003
|
|
NM_001458.5(FLNC):c.1437C>T (p.Ala479=)
|
rs760412891
|
0.00003
|
|
NM_001458.5(FLNC):c.1471G>A (p.Val491Met)
|
rs770264114
|
0.00003
|
|
NM_001458.5(FLNC):c.1549+18G>C
|
rs756141780
|
0.00003
|
|
NM_001458.5(FLNC):c.1576C>T (p.Arg526Trp)
|
rs758758113
|
0.00003
|
|
NM_001458.5(FLNC):c.1770C>T (p.Ala590=)
|
rs367987438
|
0.00003
|
|
NM_001458.5(FLNC):c.2124C>T (p.Asp708=)
|
rs187481700
|
0.00003
|
|
NM_001458.5(FLNC):c.2130C>T (p.Asp710=)
|
rs778781499
|
0.00003
|
|
NM_001458.5(FLNC):c.2266-12C>T
|
rs761615639
|
0.00003
|
|
NM_001458.5(FLNC):c.2281G>A (p.Gly761Ser)
|
rs374691339
|
0.00003
|
|
NM_001458.5(FLNC):c.2316C>T (p.Pro772=)
|
rs377595203
|
0.00003
|
|
NM_001458.5(FLNC):c.2392G>A (p.Asp798Asn)
|
rs778594252
|
0.00003
|
|
NM_001458.5(FLNC):c.2415C>T (p.Cys805=)
|
rs376800693
|
0.00003
|
|
NM_001458.5(FLNC):c.2457C>T (p.Phe819=)
|
rs761900404
|
0.00003
|
|
NM_001458.5(FLNC):c.2478C>T (p.Asn826=)
|
rs756475814
|
0.00003
|
|
NM_001458.5(FLNC):c.2673G>A (p.Thr891=)
|
rs761823234
|
0.00003
|
|
NM_001458.5(FLNC):c.2811+14C>T
|
rs780344743
|
0.00003
|
|
NM_001458.5(FLNC):c.2930-4G>A
|
rs747623690
|
0.00003
|
|
NM_001458.5(FLNC):c.2930-5C>T
|
rs371599113
|
0.00003
|
|
NM_001458.5(FLNC):c.3063G>A (p.Ala1021=)
|
rs774361595
|
0.00003
|
|
NM_001458.5(FLNC):c.3186C>T (p.Pro1062=)
|
rs749902294
|
0.00003
|
|
NM_001458.5(FLNC):c.3241G>A (p.Ala1081Thr)
|
rs781760817
|
0.00003
|
|
NM_001458.5(FLNC):c.3260C>G (p.Thr1087Ser)
|
rs372205719
|
0.00003
|
|
NM_001458.5(FLNC):c.3294C>T (p.Thr1098=)
|
rs753772262
|
0.00003
|
|
NM_001458.5(FLNC):c.3353C>T (p.Ala1118Val)
|
rs780461379
|
0.00003
|
|
NM_001458.5(FLNC):c.342C>T (p.Leu114=)
|
rs368032737
|
0.00003
|
|
NM_001458.5(FLNC):c.3464C>T (p.Pro1155Leu)
|
rs769243979
|
0.00003
|
|
NM_001458.5(FLNC):c.353-4G>T
|
rs758484139
|
0.00003
|
|
NM_001458.5(FLNC):c.3552C>G (p.Gly1184=)
|
rs373310802
|
0.00003
|
|
NM_001458.5(FLNC):c.3622G>A (p.Ala1208Thr)
|
rs528279616
|
0.00003
|
|
NM_001458.5(FLNC):c.366C>T (p.Ile122=)
|
rs369120591
|
0.00003
|
|
NM_001458.5(FLNC):c.3696G>A (p.Gly1232=)
|
rs1057066602
|
0.00003
|
|
NM_001458.5(FLNC):c.3756C>T (p.Gly1252=)
|
rs113589230
|
0.00003
|
|
NM_001458.5(FLNC):c.3800G>A (p.Arg1267Gln)
|
rs768767784
|
0.00003
|
|
NM_001458.5(FLNC):c.3866C>T (p.Thr1289Met)
|
rs755896234
|
0.00003
|
|
NM_001458.5(FLNC):c.3951C>T (p.Thr1317=)
|
rs765476086
|
0.00003
|
|
NM_001458.5(FLNC):c.408G>A (p.Thr136=)
|
rs370110008
|
0.00003
|
|
NM_001458.5(FLNC):c.4127+7T>C
|
rs1436165683
|
0.00003
|
|
NM_001458.5(FLNC):c.4218C>T (p.Thr1406=)
|
rs748827721
|
0.00003
|
|
NM_001458.5(FLNC):c.4420C>T (p.Arg1474Trp)
|
rs372454458
|
0.00003
|
|
NM_001458.5(FLNC):c.4425G>A (p.Ala1475=)
|
rs371971762
|
0.00003
|
|
NM_001458.5(FLNC):c.4468C>T (p.Pro1490Ser)
|
rs754076573
|
0.00003
|
|
NM_001458.5(FLNC):c.4530C>T (p.Asp1510=)
|
rs565243603
|
0.00003
|
|
NM_001458.5(FLNC):c.4614T>C (p.Asp1538=)
|
rs746563597
|
0.00003
|
|
NM_001458.5(FLNC):c.4825C>T (p.Arg1609Trp)
|
rs374756527
|
0.00003
|
|
NM_001458.5(FLNC):c.4872G>A (p.Ser1624=)
|
rs767264014
|
0.00003
|
|
NM_001458.5(FLNC):c.4911C>G (p.Ser1637Arg)
|
rs1469272964
|
0.00003
|
|
NM_001458.5(FLNC):c.4970G>A (p.Arg1657Gln)
|
rs374294752
|
0.00003
|
|
NM_001458.5(FLNC):c.5000C>T (p.Thr1667Met)
|
rs753945728
|
0.00003
|
|
NM_001458.5(FLNC):c.5001G>A (p.Thr1667=)
|
rs370711488
|
0.00003
|
|
NM_001458.5(FLNC):c.5217G>A (p.Pro1739=)
|
rs769643482
|
0.00003
|
|
NM_001458.5(FLNC):c.5273G>A (p.Arg1758Gln)
|
rs573984029
|
0.00003
|
|
NM_001458.5(FLNC):c.5377G>A (p.Val1793Met)
|
rs587780337
|
0.00003
|
|
NM_001458.5(FLNC):c.5469G>C (p.Thr1823=)
|
rs550620019
|
0.00003
|
|
NM_001458.5(FLNC):c.5540-6C>G
|
rs201335006
|
0.00003
|
|
NM_001458.5(FLNC):c.5668+15G>A
|
rs766668215
|
0.00003
|
|
NM_001458.5(FLNC):c.5984G>A (p.Arg1995His)
|
rs371508414
|
0.00003
|
|
NM_001458.5(FLNC):c.602-16T>A
|
rs1236096502
|
0.00003
|
|
NM_001458.5(FLNC):c.6040G>A (p.Val2014Met)
|
rs772477251
|
0.00003
|
|
NM_001458.5(FLNC):c.612C>T (p.Pro204=)
|
rs368103032
|
0.00003
|
|
NM_001458.5(FLNC):c.6203A>G (p.Asn2068Ser)
|
rs746724687
|
0.00003
|
|
NM_001458.5(FLNC):c.6471C>T (p.Asn2157=)
|
rs764877771
|
0.00003
|
|
NM_001458.5(FLNC):c.6538C>T (p.Arg2180Cys)
|
rs779029827
|
0.00003
|
|
NM_001458.5(FLNC):c.6569G>A (p.Arg2190His)
|
rs762680314
|
0.00003
|
|
NM_001458.5(FLNC):c.6573G>A (p.Thr2191=)
|
rs761680664
|
0.00003
|
|
NM_001458.5(FLNC):c.6642C>T (p.Gly2214=)
|
rs546247674
|
0.00003
|
|
NM_001458.5(FLNC):c.6715C>T (p.Arg2239Trp)
|
rs367820987
|
0.00003
|
|
NM_001458.5(FLNC):c.6727+9C>T
|
rs770803250
|
0.00003
|
|
NM_001458.5(FLNC):c.6779A>G (p.Lys2260Arg)
|
rs751019991
|
0.00003
|
|
NM_001458.5(FLNC):c.6801C>T (p.Val2267=)
|
rs768689551
|
0.00003
|
|
NM_001458.5(FLNC):c.7107C>T (p.Cys2369=)
|
rs781154278
|
0.00003
|
|
NM_001458.5(FLNC):c.7123G>A (p.Val2375Ile)
|
rs768941858
|
0.00003
|
|
NM_001458.5(FLNC):c.7291G>A (p.Val2431Met)
|
rs572952653
|
0.00003
|
|
NM_001458.5(FLNC):c.7309C>T (p.Arg2437Trp)
|
rs756353876
|
0.00003
|
|
NM_001458.5(FLNC):c.7400G>A (p.Arg2467His)
|
rs775910704
|
0.00003
|
|
NM_001458.5(FLNC):c.7484G>A (p.Arg2495His)
|
rs757219498
|
0.00003
|
|
NM_001458.5(FLNC):c.767A>G (p.Gln256Arg)
|
rs760009430
|
0.00003
|
|
NM_001458.5(FLNC):c.7971C>T (p.Thr2657=)
|
rs758833148
|
0.00003
|
|
NM_001458.5(FLNC):c.897C>T (p.Thr299=)
|
rs575141899
|
0.00003
|
|
NM_001458.5(FLNC):c.970-20A>G
|
rs751696900
|
0.00003
|
|
NM_001927.4(DES):c.936C>T (p.Asp312=)
|
rs769213907
|
0.00003
|
|
NM_001943.5(DSG2):c.1119T>C (p.Ile373=)
|
rs770547012
|
0.00003
|
|
NM_001943.5(DSG2):c.1194C>T (p.Ser398=)
|
rs770669833
|
0.00003
|
|
NM_001943.5(DSG2):c.1524C>T (p.His508=)
|
rs560004953
|
0.00003
|
|
NM_001943.5(DSG2):c.1536T>C (p.Tyr512=)
|
rs952187023
|
0.00003
|
|
NM_001943.5(DSG2):c.2234C>T (p.Thr745Met)
|
rs727504783
|
0.00003
|
|
NM_001943.5(DSG2):c.2304C>T (p.Asn768=)
|
rs368514815
|
0.00003
|
|
NM_001943.5(DSG2):c.2340G>T (p.Ala780=)
|
rs375539435
|
0.00003
|
|
NM_001943.5(DSG2):c.2421G>T (p.Leu807=)
|
rs374775982
|
0.00003
|
|
NM_001943.5(DSG2):c.3210G>A (p.Thr1070=)
|
rs771104963
|
0.00003
|
|
NM_001943.5(DSG2):c.3228G>A (p.Val1076=)
|
rs373966845
|
0.00003
|
|
NM_001943.5(DSG2):c.55A>G (p.Asn19Asp)
|
rs185266383
|
0.00003
|
|
NM_001943.5(DSG2):c.706A>G (p.Thr236Ala)
|
rs727502985
|
0.00003
|
|
NM_001943.5(DSG2):c.84C>G (p.Val28=)
|
rs397516711
|
0.00003
|
|
NM_001985.3(ETFB):c.135G>A (p.Ala45=)
|
rs372040033
|
0.00003
|
|
NM_002230.4(JUP):c.1218C>T (p.Asn406=)
|
rs782565128
|
0.00003
|
|
NM_002230.4(JUP):c.1290A>G (p.Thr430=)
|
rs897549158
|
0.00003
|
|
NM_002230.4(JUP):c.1497+15C>T
|
rs1208242034
|
0.00003
|
|
NM_002230.4(JUP):c.153C>T (p.Arg51=)
|
rs1002288225
|
0.00003
|
|
NM_002230.4(JUP):c.1653+18G>A
|
rs1057520950
|
0.00003
|
|
NM_002230.4(JUP):c.1692C>T (p.Thr564=)
|
rs781958880
|
0.00003
|
|
NM_002230.4(JUP):c.1995C>T (p.Ser665=)
|
rs782094877
|
0.00003
|
|
NM_002230.4(JUP):c.2087-14C>T
|
rs781839198
|
0.00003
|
|
NM_002230.4(JUP):c.357G>A (p.Pro119=)
|
rs782579395
|
0.00003
|
|
NM_002230.4(JUP):c.435C>T (p.Pro145=)
|
rs781786854
|
0.00003
|
|
NM_002230.4(JUP):c.474G>A (p.Val158=)
|
rs572405296
|
0.00003
|
|
NM_002230.4(JUP):c.66C>T (p.Tyr22=)
|
rs782575179
|
0.00003
|
|
NM_002230.4(JUP):c.707+13G>A
|
rs370998940
|
0.00003
|
|
NM_002230.4(JUP):c.723G>A (p.Ser241=)
|
rs564635690
|
0.00003
|
|
NM_002230.4(JUP):c.789C>T (p.Ala263=)
|
rs781822316
|
0.00003
|
|
NM_002471.3(MYH6):c.2685+15T>C
|
rs368883537
|
0.00003
|
|
NM_002471.3(MYH6):c.899-15C>T
|
rs886050412
|
0.00003
|
|
NM_002471.4(MYH6):c.1062G>A (p.Thr354=)
|
rs770023503
|
0.00003
|
|
NM_002471.4(MYH6):c.1155G>A (p.Ser385=)
|
rs147903010
|
0.00003
|
|
NM_002471.4(MYH6):c.1659G>A (p.Leu553=)
|
rs763167861
|
0.00003
|
|
NM_002471.4(MYH6):c.1885G>A (p.Asp629Asn)
|
rs180904654
|
0.00003
|
|
NM_002471.4(MYH6):c.201+19C>T
|
rs371665550
|
0.00003
|
|
NM_002471.4(MYH6):c.2127G>A (p.Lys709=)
|
rs765316931
|
0.00003
|
|
NM_002471.4(MYH6):c.2206C>A (p.Gln736Lys)
|
rs201411075
|
0.00003
|
|
NM_002471.4(MYH6):c.2364G>A (p.Thr788=)
|
rs779838927
|
0.00003
|
|
NM_002471.4(MYH6):c.2541G>A (p.Thr847=)
|
rs774131751
|
0.00003
|
|
NM_002471.4(MYH6):c.3860-15T>G
|
rs200883903
|
0.00003
|
|
NM_002471.4(MYH6):c.4140C>T (p.Asp1380=)
|
rs199672166
|
0.00003
|
|
NM_002471.4(MYH6):c.4365G>T (p.Leu1455=)
|
rs779591168
|
0.00003
|
|
NM_002471.4(MYH6):c.4368C>T (p.Ala1456=)
|
rs554188494
|
0.00003
|
|
NM_002471.4(MYH6):c.4464C>T (p.Asn1488=)
|
rs376781285
|
0.00003
|
|
NM_002471.4(MYH6):c.4959+12C>T
|
rs371661383
|
0.00003
|
|
NM_002471.4(MYH6):c.4983T>C (p.Asp1661=)
|
rs763573894
|
0.00003
|
|
NM_002471.4(MYH6):c.5367G>A (p.Glu1789=)
|
rs753335327
|
0.00003
|
|
NM_002471.4(MYH6):c.5490C>T (p.Ala1830=)
|
rs201209864
|
0.00003
|
|
NM_002471.4(MYH6):c.5736G>A (p.Ala1912=)
|
rs150277296
|
0.00003
|
|
NM_002471.4(MYH6):c.636G>A (p.Ala212=)
|
rs111265123
|
0.00003
|
|
NM_002471.4(MYH6):c.736-9C>T
|
rs748594445
|
0.00003
|
|
NM_002471.4(MYH6):c.898+11C>T
|
rs769354836
|
0.00003
|
|
NM_002471.4(MYH6):c.960C>T (p.Ser320=)
|
rs376547858
|
0.00003
|
|
NM_002633.3(PGM1):c.1144+10A>G
|
rs886046482
|
0.00003
|
|
NM_002633.3(PGM1):c.12C>A (p.Ile4=)
|
rs775862619
|
0.00003
|
|
NM_002633.3(PGM1):c.264C>T (p.Ile88=)
|
rs200946909
|
0.00003
|
|
NM_002633.3(PGM1):c.64C>T (p.Leu22=)
|
rs1395771160
|
0.00003
|
|
NM_003280.3(TNNC1):c.183C>T (p.Ile61=)
|
rs764114178
|
0.00003
|
|
NM_003280.3(TNNC1):c.24+13G>T
|
rs748590123
|
0.00003
|
|
NM_003280.3(TNNC1):c.288G>A (p.Glu96=)
|
rs200066743
|
0.00003
|
|
NM_003280.3(TNNC1):c.432C>T (p.Asn144=)
|
rs767979684
|
0.00003
|
|
NM_003280.3(TNNC1):c.474G>A (p.Lys158=)
|
rs770807038
|
0.00003
|
|
NM_003280.3(TNNC1):c.72C>T (p.Phe24=)
|
rs751682878
|
0.00003
|
|
NM_003476.5(CSRP3):c.21C>T (p.Gly7=)
|
rs151177504
|
0.00003
|
|
NM_003476.5(CSRP3):c.282-16C>A
|
rs757074408
|
0.00003
|
|
NM_003476.5(CSRP3):c.99G>A (p.Thr33=)
|
rs147549410
|
0.00003
|
|
NM_003673.4(TCAP):c.111-17C>T
|
rs567350904
|
0.00003
|
|
NM_003673.4(TCAP):c.261G>T (p.Arg87=)
|
rs375389509
|
0.00003
|
|
NM_003673.4(TCAP):c.87A>G (p.Thr29=)
|
rs144741021
|
0.00003
|
|
NM_003803.4(MYOM1):c.1175-2A>T
|
rs777120222
|
0.00003
|
|
NM_003803.4(MYOM1):c.1215C>A (p.Ile405=)
|
rs201824158
|
0.00003
|
|
NM_003803.4(MYOM1):c.2598G>A (p.Pro866=)
|
rs778413922
|
0.00003
|
|
NM_003803.4(MYOM1):c.290+13C>T
|
rs780929540
|
0.00003
|
|
NM_003803.4(MYOM1):c.2991+9G>A
|
rs751330827
|
0.00003
|
|
NM_003803.4(MYOM1):c.3111C>T (p.Ala1037=)
|
rs765677265
|
0.00003
|
|
NM_003803.4(MYOM1):c.3129C>T (p.His1043=)
|
rs372294428
|
0.00003
|
|
NM_003803.4(MYOM1):c.3300G>A (p.Leu1100=)
|
rs373624207
|
0.00003
|
|
NM_003803.4(MYOM1):c.4138-13G>T
|
rs760529348
|
0.00003
|
|
NM_003803.4(MYOM1):c.4524G>A (p.Gly1508=)
|
rs1260004411
|
0.00003
|
|
NM_003803.4(MYOM1):c.4765-10T>C
|
rs746390667
|
0.00003
|
|
NM_003803.4(MYOM1):c.4869C>T (p.Phe1623=)
|
rs267605179
|
0.00003
|
|
NM_003803.4(MYOM1):c.4980C>T (p.Thr1660=)
|
rs745312253
|
0.00003
|
|
NM_003803.4(MYOM1):c.573G>A (p.Thr191=)
|
rs199937869
|
0.00003
|
|
NM_003803.4(MYOM1):c.771+9A>G
|
rs1470834924
|
0.00003
|
|
NM_003803.4(MYOM1):c.772-16A>G
|
rs373358440
|
0.00003
|
|
NM_004100.5(EYA4):c.1437G>A (p.Arg479=)
|
rs142263016
|
0.00003
|
|
NM_004100.5(EYA4):c.1534C>T (p.Leu512=)
|
rs1451874529
|
0.00003
|
|
NM_004100.5(EYA4):c.1653A>G (p.Gln551=)
|
rs747398475
|
0.00003
|
|
NM_004100.5(EYA4):c.1707C>A (p.Pro569=)
|
rs1197553602
|
0.00003
|
|
NM_004100.5(EYA4):c.528C>T (p.Ala176=)
|
rs199701258
|
0.00003
|
|
NM_004100.5(EYA4):c.660C>A (p.Leu220=)
|
rs755795461
|
0.00003
|
|
NM_004100.5(EYA4):c.813A>G (p.Pro271=)
|
rs370562413
|
0.00003
|
|
NM_004100.5(EYA4):c.955C>T (p.Leu319=)
|
rs370874438
|
0.00003
|
|
NM_004281.4(BAG3):c.1264G>A (p.Val422Met)
|
rs371476147
|
0.00003
|
|
NM_004281.4(BAG3):c.1281C>T (p.Ala427=)
|
rs748724796
|
0.00003
|
|
NM_004281.4(BAG3):c.138C>T (p.Thr46=)
|
rs777267711
|
0.00003
|
|
NM_004281.4(BAG3):c.1563G>A (p.Leu521=)
|
rs1045652182
|
0.00003
|
|
NM_004281.4(BAG3):c.336T>C (p.His112=)
|
rs1292256256
|
0.00003
|
|
NM_004281.4(BAG3):c.468G>A (p.Ala156=)
|
rs752056366
|
0.00003
|
|
NM_004281.4(BAG3):c.483G>A (p.Gln161=)
|
rs758279156
|
0.00003
|
|
NM_004281.4(BAG3):c.891C>T (p.Thr297=)
|
rs372571986
|
0.00003
|
|
NM_004415.4(DSP):c.1045-8T>C
|
rs201633815
|
0.00003
|
|
NM_004415.4(DSP):c.1103T>C (p.Ile368Thr)
|
rs141163578
|
0.00003
|
|
NM_004415.4(DSP):c.1254C>G (p.Ile418Met)
|
rs752264359
|
0.00003
|
|
NM_004415.4(DSP):c.1267-14A>T
|
rs374439921
|
0.00003
|
|
NM_004415.4(DSP):c.1324T>G (p.Ser442Ala)
|
rs755492444
|
0.00003
|
|
NM_004415.4(DSP):c.1420-15T>C
|
rs569955363
|
0.00003
|
|
NM_004415.4(DSP):c.1487C>T (p.Thr496Met)
|
rs374283517
|
0.00003
|
|
NM_004415.4(DSP):c.1501G>A (p.Val501Ile)
|
rs368778031
|
0.00003
|
|
NM_004415.4(DSP):c.1512T>C (p.Leu504=)
|
rs537526794
|
0.00003
|
|
NM_004415.4(DSP):c.1557C>T (p.Ala519=)
|
rs769629611
|
0.00003
|
|
NM_004415.4(DSP):c.1630A>C (p.Met544Leu)
|
rs201960323
|
0.00003
|
|
NM_004415.4(DSP):c.1743C>T (p.Ala581=)
|
rs139095230
|
0.00003
|
|
NM_004415.4(DSP):c.1840G>A (p.Asp614Asn)
|
rs764951792
|
0.00003
|
|
NM_004415.4(DSP):c.1904-12T>G
|
rs750869804
|
0.00003
|
|
NM_004415.4(DSP):c.1904-17C>G
|
rs370715047
|
0.00003
|
|
NM_004415.4(DSP):c.201C>T (p.Asn67=)
|
rs774432635
|
0.00003
|
|
NM_004415.4(DSP):c.2047G>A (p.Glu683Lys)
|
rs775181391
|
0.00003
|
|
NM_004415.4(DSP):c.2052C>A (p.Gly684=)
|
rs760191477
|
0.00003
|
|
NM_004415.4(DSP):c.2310A>C (p.Val770=)
|
rs762909119
|
0.00003
|
|
NM_004415.4(DSP):c.2345A>G (p.Asp782Gly)
|
rs557966264
|
0.00003
|
|
NM_004415.4(DSP):c.2546A>G (p.Tyr849Cys)
|
rs778636665
|
0.00003
|
|
NM_004415.4(DSP):c.2566T>C (p.Phe856Leu)
|
rs779253041
|
0.00003
|
|
NM_004415.4(DSP):c.256G>C (p.Glu86Gln)
|
rs764993760
|
0.00003
|
|
NM_004415.4(DSP):c.2720G>A (p.Arg907His)
|
rs774665110
|
0.00003
|
|
NM_004415.4(DSP):c.2722C>T (p.Arg908Cys)
|
rs376932045
|
0.00003
|
|
NM_004415.4(DSP):c.3015A>G (p.Glu1005=)
|
rs397516930
|
0.00003
|
|
NM_004415.4(DSP):c.3231G>A (p.Ala1077=)
|
rs368214030
|
0.00003
|
|
NM_004415.4(DSP):c.3275C>T (p.Ser1092Leu)
|
rs755481878
|
0.00003
|
|
NM_004415.4(DSP):c.344A>G (p.Asn115Ser)
|
rs28763958
|
0.00003
|
|
NM_004415.4(DSP):c.3551G>A (p.Arg1184Gln)
|
rs147909031
|
0.00003
|
|
NM_004415.4(DSP):c.363C>T (p.Leu121=)
|
rs748204541
|
0.00003
|
|
NM_004415.4(DSP):c.3650C>T (p.Thr1217Met)
|
rs535202724
|
0.00003
|
|
NM_004415.4(DSP):c.3651G>A (p.Thr1217=)
|
rs1057522191
|
0.00003
|
|
NM_004415.4(DSP):c.3760G>A (p.Val1254Ile)
|
rs778448699
|
0.00003
|
|
NM_004415.4(DSP):c.4005G>A (p.Gln1335=)
|
rs775720924
|
0.00003
|
|
NM_004415.4(DSP):c.4019G>A (p.Arg1340His)
|
rs765247380
|
0.00003
|
|
NM_004415.4(DSP):c.4041A>G (p.Glu1347=)
|
rs200671552
|
0.00003
|
|
NM_004415.4(DSP):c.4077C>T (p.Ile1359=)
|
rs747249306
|
0.00003
|
|
NM_004415.4(DSP):c.4081A>C (p.Ser1361Arg)
|
rs747326519
|
0.00003
|
|
NM_004415.4(DSP):c.4105G>A (p.Glu1369Lys)
|
rs141805096
|
0.00003
|
|
NM_004415.4(DSP):c.4373G>A (p.Arg1458Gln)
|
rs370063434
|
0.00003
|
|
NM_004415.4(DSP):c.4377A>G (p.Thr1459=)
|
rs771910118
|
0.00003
|
|
NM_004415.4(DSP):c.4387G>A (p.Val1463Ile)
|
rs948230523
|
0.00003
|
|
NM_004415.4(DSP):c.4540C>T (p.Leu1514=)
|
rs754783192
|
0.00003
|
|
NM_004415.4(DSP):c.4573A>G (p.Ile1525Val)
|
rs145796901
|
0.00003
|
|
NM_004415.4(DSP):c.4741A>G (p.Lys1581Glu)
|
rs186842903
|
0.00003
|
|
NM_004415.4(DSP):c.484C>T (p.Arg162Cys)
|
rs760711308
|
0.00003
|
|
NM_004415.4(DSP):c.485G>T (p.Arg162Leu)
|
rs397516944
|
0.00003
|
|
NM_004415.4(DSP):c.5019A>T (p.Glu1673Asp)
|
rs773113214
|
0.00003
|
|
NM_004415.4(DSP):c.5066T>C (p.Ile1689Thr)
|
rs869025394
|
0.00003
|
|
NM_004415.4(DSP):c.5154G>A (p.Leu1718=)
|
rs376620183
|
0.00003
|
|
NM_004415.4(DSP):c.5223G>A (p.Ala1741=)
|
rs201984474
|
0.00003
|
|
NM_004415.4(DSP):c.5414G>A (p.Cys1805Tyr)
|
rs768161038
|
0.00003
|
|
NM_004415.4(DSP):c.55C>A (p.Arg19Ser)
|
rs777340009
|
0.00003
|
|
NM_004415.4(DSP):c.5865T>C (p.Thr1955=)
|
rs1306745746
|
0.00003
|
|
NM_004415.4(DSP):c.6062C>G (p.Ala2021Gly)
|
rs760673242
|
0.00003
|
|
NM_004415.4(DSP):c.607G>A (p.Asp203Asn)
|
rs374100807
|
0.00003
|
|
NM_004415.4(DSP):c.6187C>G (p.Arg2063Gly)
|
rs374090050
|
0.00003
|
|
NM_004415.4(DSP):c.6368G>A (p.Arg2123His)
|
rs142272846
|
0.00003
|
|
NM_004415.4(DSP):c.6416A>G (p.Asn2139Ser)
|
rs765687440
|
0.00003
|
|
NM_004415.4(DSP):c.6496C>A (p.Arg2166=)
|
rs141026028
|
0.00003
|
|
NM_004415.4(DSP):c.665G>A (p.Arg222Gln)
|
rs377749481
|
0.00003
|
|
NM_004415.4(DSP):c.6935T>C (p.Val2312Ala)
|
rs886061748
|
0.00003
|
|
NM_004415.4(DSP):c.7014G>C (p.Gly2338=)
|
rs1054965369
|
0.00003
|
|
NM_004415.4(DSP):c.7039A>G (p.Ile2347Val)
|
rs768837509
|
0.00003
|
|
NM_004415.4(DSP):c.7569G>A (p.Lys2523=)
|
rs1230846776
|
0.00003
|
|
NM_004415.4(DSP):c.7653C>T (p.Ser2551=)
|
rs746983874
|
0.00003
|
|
NM_004415.4(DSP):c.7826T>C (p.Phe2609Ser)
|
rs397516959
|
0.00003
|
|
NM_004415.4(DSP):c.7915C>T (p.Arg2639Trp)
|
rs771553674
|
0.00003
|
|
NM_004415.4(DSP):c.837G>A (p.Thr279=)
|
rs368051840
|
0.00003
|
|
NM_004415.4(DSP):c.8401C>G (p.Arg2801Gly)
|
rs760215987
|
0.00003
|
|
NM_004415.4(DSP):c.997A>G (p.Ser333Gly)
|
rs773685575
|
0.00003
|
|
NM_004453.4(ETFDH):c.142A>G (p.Ile48Val)
|
rs201823591
|
0.00003
|
|
NM_004453.4(ETFDH):c.1468+12_1468+13del
|
rs769120603
|
0.00003
|
|
NM_004453.4(ETFDH):c.1560A>C (p.Ser520=)
|
rs566844923
|
0.00003
|
|
NM_004453.4(ETFDH):c.606+14T>C
|
rs139113830
|
0.00003
|
|
NM_004453.4(ETFDH):c.642T>C (p.Ile214=)
|
rs201049444
|
0.00003
|
|
NM_004453.4(ETFDH):c.651C>T (p.Asn217=)
|
rs562079045
|
0.00003
|
|
NM_004517.4(ILK):c.1266T>C (p.Cys422=)
|
rs952639348
|
0.00003
|
|
NM_004517.4(ILK):c.93C>T (p.Asp31=)
|
rs56057203
|
0.00003
|
|
NM_005159.5(ACTC1):c.270C>T (p.His90=)
|
rs138812333
|
0.00003
|
|
NM_005159.5(ACTC1):c.300C>T (p.Pro100=)
|
rs141322728
|
0.00003
|
|
NM_005159.5(ACTC1):c.399C>T (p.Ala133=)
|
rs764630691
|
0.00003
|
|
NM_005159.5(ACTC1):c.498C>T (p.Pro166=)
|
rs370082904
|
0.00003
|
|
NM_005159.5(ACTC1):c.51G>A (p.Gly17=)
|
rs993704001
|
0.00003
|
|
NM_005343.4(HRAS):c.153C>T (p.Cys51=)
|
rs759482455
|
0.00003
|
|
NM_005343.4(HRAS):c.282C>T (p.His94=)
|
rs375893752
|
0.00003
|
|
NM_005343.4(HRAS):c.291-13T>G
|
rs755995550
|
0.00003
|
|
NM_005343.4(HRAS):c.291-8C>T
|
rs1057522962
|
0.00003
|
|
NM_005343.4(HRAS):c.412G>A (p.Gly138Ser)
|
rs397517142
|
0.00003
|
|
NM_005343.4(HRAS):c.54G>A (p.Ala18=)
|
rs148380285
|
0.00003
|
|
NM_005343.4(HRAS):c.57G>C (p.Leu19=)
|
rs761648389
|
0.00003
|
|
NM_005921.2(MAP3K1):c.2617G>A (p.Val873Ile)
|
rs149242419
|
0.00003
|
|
NM_005921.2(MAP3K1):c.3070A>C (p.Lys1024Gln)
|
rs780666910
|
0.00003
|
|
NM_005921.2(MAP3K1):c.4107T>C (p.Asp1369=)
|
rs373835578
|
0.00003
|
|
NM_005921.2(MAP3K1):c.4128A>C (p.Leu1376=)
|
rs113150610
|
0.00003
|
|
NM_006073.4(TRDN):c.1186+13A>T
|
rs374832854
|
0.00003
|
|
NM_006073.4(TRDN):c.126G>A (p.Thr42=)
|
rs774324909
|
0.00003
|
|
NM_006073.4(TRDN):c.1273+16T>C
|
rs1055067085
|
0.00003
|
|
NM_006073.4(TRDN):c.1321+15A>G
|
rs373855431
|
0.00003
|
|
NM_006073.4(TRDN):c.1369+9A>G
|
rs373926690
|
0.00003
|
|
NM_006073.4(TRDN):c.1420+7G>A
|
rs1468907376
|
0.00003
|
|
NM_006073.4(TRDN):c.1421-20T>C
|
rs1018226745
|
0.00003
|
|
NM_006073.4(TRDN):c.1672+8G>T
|
rs372811049
|
0.00003
|
|
NM_006073.4(TRDN):c.2073T>C (p.Cys691=)
|
rs776628762
|
0.00003
|
|
NM_006073.4(TRDN):c.22+8T>C
|
rs754212646
|
0.00003
|
|
NM_006073.4(TRDN):c.610+20T>G
|
rs1236681855
|
0.00003
|
|
NM_006073.4(TRDN):c.611-14T>A
|
rs181140338
|
0.00003
|
|
NM_006073.4(TRDN):c.931+19C>T
|
rs1319851680
|
0.00003
|
|
NM_006270.5(RRAS):c.241+9G>A
|
rs750643775
|
0.00003
|
|
NM_006270.5(RRAS):c.291C>T (p.Tyr97=)
|
rs780638908
|
0.00003
|
|
NM_006270.5(RRAS):c.573-13C>T
|
rs372538436
|
0.00003
|
|
NM_006270.5(RRAS):c.573-19C>G
|
rs377060262
|
0.00003
|
|
NM_006284.4(TAF10):c.*1632C>T
|
rs1235027162
|
0.00003
|
|
NM_006393.3(NEBL):c.1689A>G (p.Glu563=)
|
rs1423516014
|
0.00003
|
|
NM_006393.3(NEBL):c.1776+18C>G
|
rs373474665
|
0.00003
|
|
NM_006393.3(NEBL):c.1954A>C (p.Ile652Leu)
|
rs200756166
|
0.00003
|
|
NM_006393.3(NEBL):c.2149-11T>C
|
rs369297283
|
0.00003
|
|
NM_006393.3(NEBL):c.2149-17G>T
|
rs750555294
|
0.00003
|
|
NM_006393.3(NEBL):c.2206G>T (p.Glu736Ter)
|
rs780056247
|
0.00003
|
|
NM_006393.3(NEBL):c.2394T>C (p.Thr798=)
|
rs764897449
|
0.00003
|
|
NM_006393.3(NEBL):c.2667C>T (p.Phe889=)
|
rs780103943
|
0.00003
|
|
NM_006393.3(NEBL):c.498C>T (p.Asp166=)
|
rs371105861
|
0.00003
|
|
NM_006393.3(NEBL):c.81+8A>G
|
rs371780063
|
0.00003
|
|
NM_006440.5(TXNRD2):c.1464G>A (p.Ala488=)
|
rs372816982
|
0.00003
|
|
NM_006440.5(TXNRD2):c.1474C>T (p.Arg492Trp)
|
rs146133764
|
0.00003
|
|
NM_006440.5(TXNRD2):c.1554G>A (p.Thr518=)
|
rs144497090
|
0.00003
|
|
NM_006440.5(TXNRD2):c.360C>T (p.Pro120=)
|
rs780233789
|
0.00003
|
|
NM_006440.5(TXNRD2):c.449+10C>G
|
rs552910679
|
0.00003
|
|
NM_006440.5(TXNRD2):c.449+17C>T
|
rs370505160
|
0.00003
|
|
NM_006440.5(TXNRD2):c.489C>T (p.Asp163=)
|
rs751116028
|
0.00003
|
|
NM_006440.5(TXNRD2):c.846G>A (p.Ser282=)
|
rs373979565
|
0.00003
|
|
NM_006912.6(RIT1):c.45C>G (p.Pro15=)
|
rs748838734
|
0.00003
|
|
NM_006912.6(RIT1):c.498A>C (p.Ala166=)
|
rs375734733
|
0.00003
|
|
NM_006939.4(SOS2):c.1005T>C (p.Tyr335=)
|
rs753698896
|
0.00003
|
|
NM_006939.4(SOS2):c.1069-10T>C
|
rs201686942
|
0.00003
|
|
NM_006939.4(SOS2):c.1264G>A (p.Glu422Lys)
|
rs375244948
|
0.00003
|
|
NM_006939.4(SOS2):c.1356T>C (p.Gly452=)
|
rs746956553
|
0.00003
|
|
NM_006939.4(SOS2):c.1852+18C>G
|
rs768521644
|
0.00003
|
|
NM_006939.4(SOS2):c.2604C>T (p.Gly868=)
|
rs765945171
|
0.00003
|
|
NM_006939.4(SOS2):c.2978A>T (p.Asn993Ile)
|
rs776000121
|
0.00003
|
|
NM_006939.4(SOS2):c.3380-15C>G
|
rs748112343
|
0.00003
|
|
NM_006939.4(SOS2):c.3490-14C>T
|
rs200796041
|
0.00003
|
|
NM_006939.4(SOS2):c.3606T>C (p.Ser1202=)
|
rs539432390
|
0.00003
|
|
NM_006939.4(SOS2):c.3981T>C (p.Asn1327=)
|
rs527576404
|
0.00003
|
|
NM_006939.4(SOS2):c.540C>T (p.Asp180=)
|
rs189555369
|
0.00003
|
|
NM_006939.4(SOS2):c.63A>G (p.Gly21=)
|
rs761849560
|
0.00003
|
|
NM_006939.4(SOS2):c.927C>T (p.Phe309=)
|
rs1308740864
|
0.00003
|
|
NM_012082.4(ZFPM2):c.1218C>T (p.Asp406=)
|
rs377293678
|
0.00003
|
|
NM_012082.4(ZFPM2):c.1612G>A (p.Val538Ile)
|
rs575054307
|
0.00003
|
|
NM_012082.4(ZFPM2):c.2700C>T (p.Ser900=)
|
rs1181745433
|
0.00003
|
|
NM_012082.4(ZFPM2):c.3077C>T (p.Ala1026Val)
|
rs779273741
|
0.00003
|
|
NM_013266.4(CTNNA3):c.1282-16T>A
|
rs1380666219
|
0.00003
|
|
NM_013266.4(CTNNA3):c.2614A>C (p.Arg872=)
|
rs746704810
|
0.00003
|
|
NM_013266.4(CTNNA3):c.2628A>G (p.Ala876=)
|
rs377740786
|
0.00003
|
|
NM_014000.3(VCL):c.1041G>C (p.Pro347=)
|
rs373079313
|
0.00003
|
|
NM_014000.3(VCL):c.1353-11T>G
|
rs1307706067
|
0.00003
|
|
NM_014000.3(VCL):c.168+7G>T
|
rs780959726
|
0.00003
|
|
NM_014000.3(VCL):c.225A>G (p.Pro75=)
|
rs759937112
|
0.00003
|
|
NM_014000.3(VCL):c.2823C>T (p.Val941=)
|
rs747647927
|
0.00003
|
|
NM_014000.3(VCL):c.2950-6C>T
|
rs771375471
|
0.00003
|
|
NM_014476.6(PDLIM3):c.417C>T (p.Ser139=)
|
rs200230349
|
0.00003
|
|
NM_014908.4(DOLK):c.1005C>T (p.Ile335=)
|
rs370084249
|
0.00003
|
|
NM_014908.4(DOLK):c.1086C>T (p.Ala362=)
|
rs751762161
|
0.00003
|
|
NM_014908.4(DOLK):c.1221A>G (p.Thr407=)
|
rs973710719
|
0.00003
|
|
NM_014908.4(DOLK):c.1527C>T (p.Ser509=)
|
rs746460508
|
0.00003
|
|
NM_014908.4(DOLK):c.380T>C (p.Val127Ala)
|
rs201629680
|
0.00003
|
|
NM_014908.4(DOLK):c.819C>T (p.Pro273=)
|
rs745508730
|
0.00003
|
|
NM_014908.4(DOLK):c.924C>T (p.Ala308=)
|
rs531714647
|
0.00003
|
|
NM_015374.3(SUN2):c.1068+7G>A
|
rs373080183
|
0.00003
|
|
NM_015374.3(SUN2):c.1069-9G>A
|
rs779944981
|
0.00003
|
|
NM_015374.3(SUN2):c.147C>T (p.Asn49=)
|
rs769644853
|
0.00003
|
|
NM_015374.3(SUN2):c.2058G>A (p.Thr686=)
|
rs140261344
|
0.00003
|
|
NM_015374.3(SUN2):c.2103C>T (p.Pro701=)
|
rs748074497
|
0.00003
|
|
NM_015374.3(SUN2):c.243A>C (p.Pro81=)
|
rs745316329
|
0.00003
|
|
NM_015374.3(SUN2):c.636G>A (p.Thr212=)
|
rs200221237
|
0.00003
|
|
NM_015374.3(SUN2):c.681G>A (p.Thr227=)
|
rs754563807
|
0.00003
|
|
NM_015374.3(SUN2):c.990G>A (p.Ala330=)
|
rs749535489
|
0.00003
|
|
NM_016203.4(PRKAG2):c.1234-6G>A
|
rs780341115
|
0.00003
|
|
NM_016203.4(PRKAG2):c.1399+15C>T
|
rs374582991
|
0.00003
|
|
NM_016203.4(PRKAG2):c.1584+8G>A
|
rs762649633
|
0.00003
|
|
NM_016203.4(PRKAG2):c.1679-10C>T
|
rs201826453
|
0.00003
|
|
NM_016203.4(PRKAG2):c.297C>T (p.Pro99=)
|
rs767950372
|
0.00003
|
|
NM_016203.4(PRKAG2):c.318C>T (p.Phe106=)
|
rs373277092
|
0.00003
|
|
NM_016203.4(PRKAG2):c.342G>A (p.Pro114=)
|
rs147365679
|
0.00003
|
|
NM_016203.4(PRKAG2):c.554A>T (p.Glu185Val)
|
rs397517274
|
0.00003
|
|
NM_016203.4(PRKAG2):c.591C>T (p.Pro197=)
|
rs587781126
|
0.00003
|
|
NM_016203.4(PRKAG2):c.864+13C>T
|
rs727505238
|
0.00003
|
|
NM_016599.5(MYOZ2):c.313C>T (p.Pro105Ser)
|
rs748809573
|
0.00003
|
|
NM_016599.5(MYOZ2):c.376+9T>A
|
rs536009604
|
0.00003
|
|
NM_016599.5(MYOZ2):c.423C>T (p.Thr141=)
|
rs148220911
|
0.00003
|
|
NM_016599.5(MYOZ2):c.768C>A (p.Thr256=)
|
rs727503333
|
0.00003
|
|
NM_020297.4(ABCC9):c.1212C>T (p.Ser404=)
|
rs376726505
|
0.00003
|
|
NM_020297.4(ABCC9):c.1416T>C (p.Phe472=)
|
rs777308898
|
0.00003
|
|
NM_020297.4(ABCC9):c.1659+18T>C
|
rs1467336853
|
0.00003
|
|
NM_020297.4(ABCC9):c.2238-9A>T
|
rs1288405480
|
0.00003
|
|
NM_020297.4(ABCC9):c.2340-9C>A
|
rs530645656
|
0.00003
|
|
NM_020297.4(ABCC9):c.2343C>T (p.Tyr781=)
|
rs758726580
|
0.00003
|
|
NM_020297.4(ABCC9):c.3096+9G>T
|
rs765048337
|
0.00003
|
|
NM_020297.4(ABCC9):c.3942A>C (p.Ile1314=)
|
rs777342713
|
0.00003
|
|
NM_020297.4(ABCC9):c.4093A>G (p.Ile1365Val)
|
rs778634668
|
0.00003
|
|
NM_020433.5(JPH2):c.1170-11T>C
|
rs376052338
|
0.00003
|
|
NM_020433.5(JPH2):c.1288+15G>C
|
rs369115643
|
0.00003
|
|
NM_020433.5(JPH2):c.1890A>G (p.Lys630=)
|
rs764093410
|
0.00003
|
|
NM_020433.5(JPH2):c.2011-15C>T
|
rs755656916
|
0.00003
|
|
NM_020433.5(JPH2):c.327C>A (p.Thr109=)
|
rs1245114185
|
0.00003
|
|
NM_020433.5(JPH2):c.405C>T (p.Asn135=)
|
rs140538587
|
0.00003
|
|
NM_020433.5(JPH2):c.48G>T (p.Gly16=)
|
rs917953744
|
0.00003
|
|
NM_020433.5(JPH2):c.669G>A (p.Arg223=)
|
rs1169464584
|
0.00003
|
|
NM_021167.5(GATAD1):c.603C>T (p.Pro201=)
|
rs150863199
|
0.00003
|
|
NM_021167.5(GATAD1):c.619+16G>A
|
rs370115533
|
0.00003
|
|
NM_022114.4(PRDM16):c.1032+15G>A
|
rs757603329
|
0.00003
|
|
NM_022114.4(PRDM16):c.1080C>T (p.His360=)
|
rs761160322
|
0.00003
|
|
NM_022114.4(PRDM16):c.1962G>A (p.Ala654=)
|
rs376206605
|
0.00003
|
|
NM_022114.4(PRDM16):c.2049G>A (p.Leu683=)
|
rs374601479
|
0.00003
|
|
NM_022114.4(PRDM16):c.204C>T (p.Tyr68=)
|
rs930898977
|
0.00003
|
|
NM_022114.4(PRDM16):c.2259C>T (p.Ala753=)
|
rs548246861
|
0.00003
|
|
NM_022114.4(PRDM16):c.2934G>A (p.Pro978=)
|
rs372850015
|
0.00003
|
|
NM_022114.4(PRDM16):c.306G>A (p.Arg102=)
|
rs1312935714
|
0.00003
|
|
NM_022114.4(PRDM16):c.3109+11C>T
|
rs757749746
|
0.00003
|
|
NM_022114.4(PRDM16):c.3110-5C>T
|
rs377426436
|
0.00003
|
|
NM_022114.4(PRDM16):c.3144G>T (p.Leu1048=)
|
rs193241720
|
0.00003
|
|
NM_022114.4(PRDM16):c.318C>T (p.Ala106=)
|
rs749938760
|
0.00003
|
|
NM_022114.4(PRDM16):c.3492C>T (p.Ser1164=)
|
rs1023870233
|
0.00003
|
|
NM_022114.4(PRDM16):c.3697-5G>A
|
rs757211426
|
0.00003
|
|
NM_022114.4(PRDM16):c.687G>A (p.Thr229=)
|
rs773103874
|
0.00003
|
|
NM_022114.4(PRDM16):c.756G>A (p.Thr252=)
|
rs775660693
|
0.00003
|
|
NM_022114.4(PRDM16):c.843C>T (p.His281=)
|
rs201199516
|
0.00003
|
|
NM_022114.4(PRDM16):c.912G>A (p.Thr304=)
|
rs371323418
|
0.00003
|
|
NM_024334.3(TMEM43):c.1000+12G>A
|
rs749592639
|
0.00003
|
|
NM_024334.3(TMEM43):c.180G>A (p.Thr60=)
|
rs765703685
|
0.00003
|
|
NM_024334.3(TMEM43):c.189A>G (p.Ser63=)
|
rs934304715
|
0.00003
|
|
NM_024334.3(TMEM43):c.512+12G>A
|
rs766205020
|
0.00003
|
|
NM_024334.3(TMEM43):c.584-13C>G
|
rs748146417
|
0.00003
|
|
NM_024334.3(TMEM43):c.591C>T (p.Ile197=)
|
rs145024252
|
0.00003
|
|
NM_024334.3(TMEM43):c.684C>T (p.Ser228=)
|
rs371019231
|
0.00003
|
|
NM_024334.3(TMEM43):c.692C>T (p.Pro231Leu)
|
rs533275736
|
0.00003
|
|
NM_024334.3(TMEM43):c.96C>T (p.Thr32=)
|
rs1021721320
|
0.00003
|
|
NM_024422.6(DSC2):c.1264-4G>A
|
rs377439942
|
0.00003
|
|
NM_024422.6(DSC2):c.1881A>G (p.Ala627=)
|
rs752023626
|
0.00003
|
|
NM_024422.6(DSC2):c.2157T>C (p.Ser719=)
|
rs985629599
|
0.00003
|
|
NM_024422.6(DSC2):c.2250+12G>T
|
rs201039801
|
0.00003
|
|
NM_024422.6(DSC2):c.2509-9C>T
|
rs773056962
|
0.00003
|
|
NM_024422.6(DSC2):c.2595G>A (p.Val865=)
|
rs765879750
|
0.00003
|
|
NM_024422.6(DSC2):c.708A>G (p.Glu236=)
|
rs377279601
|
0.00003
|
|
NM_024422.6(DSC2):c.776-13T>G
|
rs370595433
|
0.00003
|
|
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala)
|
rs201015785
|
0.00003
|
|
NM_024422.6(DSC2):c.870A>G (p.Pro290=)
|
rs142653119
|
0.00003
|
|
NM_024422.6(DSC2):c.943-9T>C
|
rs750684563
|
0.00003
|
|
NM_032578.4(MYPN):c.1272G>A (p.Gln424=)
|
rs769175475
|
0.00003
|
|
NM_032578.4(MYPN):c.1899C>T (p.Asn633=)
|
rs147500426
|
0.00003
|
|
NM_032578.4(MYPN):c.3006C>T (p.Cys1002=)
|
rs1321971649
|
0.00003
|
|
NM_032578.4(MYPN):c.3228G>T (p.Leu1076=)
|
rs746111226
|
0.00003
|
|
NM_032578.4(MYPN):c.3417C>T (p.Arg1139=)
|
rs144488384
|
0.00003
|
|
NM_032578.4(MYPN):c.3441C>T (p.Ile1147=)
|
rs759420426
|
0.00003
|
|
NM_032578.4(MYPN):c.3552C>T (p.Pro1184=)
|
rs749396604
|
0.00003
|
|
NM_032578.4(MYPN):c.3591C>A (p.Gly1197=)
|
rs876657538
|
0.00003
|
|
NM_032578.4(MYPN):c.3837C>T (p.Pro1279=)
|
rs774279751
|
0.00003
|
|
NM_032578.4(MYPN):c.714G>A (p.Ala238=)
|
rs757661676
|
0.00003
|
|
NM_033118.4(MYLK2):c.1047C>T (p.Ile349=)
|
rs751038976
|
0.00003
|
|
NM_033118.4(MYLK2):c.1082+10C>T
|
rs770363702
|
0.00003
|
|
NM_033118.4(MYLK2):c.1248C>T (p.Asn416=)
|
rs138459623
|
0.00003
|
|
NM_033118.4(MYLK2):c.1694T>C (p.Met565Thr)
|
rs727503306
|
0.00003
|
|
NM_033118.4(MYLK2):c.194C>T (p.Thr65Ile)
|
rs747109352
|
0.00003
|
|
NM_133378.4(TTN):c.45878-4A>G
|
rs772324772
|
0.00003
|
|
NM_144573.4(NEXN):c.1662A>G (p.Lys554=)
|
rs752270974
|
0.00003
|
|
NM_144573.4(NEXN):c.468G>A (p.Thr156=)
|
rs199988442
|
0.00003
|
|
NM_145046.5(CALR3):c.193+17G>A
|
rs921498420
|
0.00003
|
|
NM_145046.5(CALR3):c.642G>A (p.Ser214=)
|
rs200669493
|
0.00003
|
|
NM_152594.3(SPRED1):c.306G>A (p.Thr102=)
|
rs372791883
|
0.00003
|
|
NM_152594.3(SPRED1):c.583-9G>T
|
rs1421813002
|
0.00003
|
|
NM_152594.3(SPRED1):c.685-10T>G
|
rs1325841398
|
0.00003
|
|
NM_181703.4(GJA5):c.864C>T (p.Ala288=)
|
rs1384966203
|
0.00003
|
|
NM_182914.3(SYNE2):c.12465T>C (p.Ala4155=)
|
rs1367399695
|
0.00003
|
|
NM_182914.3(SYNE2):c.12657G>A (p.Ala4219=)
|
rs76668149
|
0.00003
|
|
NM_182914.3(SYNE2):c.15253G>A (p.Val5085Met)
|
rs144471413
|
0.00003
|
|
NM_182914.3(SYNE2):c.16480-10C>G
|
rs768388576
|
0.00003
|
|
NM_182914.3(SYNE2):c.16737G>A (p.Thr5579=)
|
rs147156341
|
0.00003
|
|
NM_182914.3(SYNE2):c.16857T>C (p.Asp5619=)
|
rs370160896
|
0.00003
|
|
NM_182914.3(SYNE2):c.17039G>A (p.Arg5680Gln)
|
rs554186246
|
0.00003
|
|
NM_182914.3(SYNE2):c.17172T>C (p.Ser5724=)
|
rs761070657
|
0.00003
|
|
NM_182914.3(SYNE2):c.18231C>T (p.Ser6077=)
|
rs747245462
|
0.00003
|
|
NM_182914.3(SYNE2):c.18273G>A (p.Leu6091=)
|
rs1051308118
|
0.00003
|
|
NM_182914.3(SYNE2):c.18315G>A (p.Ser6105=)
|
rs202084149
|
0.00003
|
|
NM_182914.3(SYNE2):c.18724-14C>A
|
rs1294405956
|
0.00003
|
|
NM_182914.3(SYNE2):c.18963G>T (p.Leu6321=)
|
rs757232346
|
0.00003
|
|
NM_182914.3(SYNE2):c.20028A>G (p.Arg6676=)
|
rs759606978
|
0.00003
|
|
NM_182914.3(SYNE2):c.2016A>G (p.Pro672=)
|
rs1277454250
|
0.00003
|
|
NM_182914.3(SYNE2):c.2333C>G (p.Ser778Cys)
|
rs186652746
|
0.00003
|
|
NM_182914.3(SYNE2):c.27C>T (p.Thr9=)
|
rs755131989
|
0.00003
|
|
NM_182914.3(SYNE2):c.57C>T (p.Asp19=)
|
rs749130552
|
0.00003
|
|
NM_182914.3(SYNE2):c.590+20C>T
|
rs747991198
|
0.00003
|
|
NM_182914.3(SYNE2):c.6183A>G (p.Lys2061=)
|
rs758892069
|
0.00003
|
|
NM_182914.3(SYNE2):c.6880-4G>A
|
rs776756586
|
0.00003
|
|
NM_182914.3(SYNE2):c.7071C>A (p.Leu2357=)
|
rs750860738
|
0.00003
|
|
NM_182914.3(SYNE2):c.7222-12T>C
|
rs370855587
|
0.00003
|
|
NM_182914.3(SYNE2):c.8841A>G (p.Gln2947=)
|
rs375616798
|
0.00003
|
|
NM_182914.3(SYNE2):c.8856A>G (p.Thr2952=)
|
rs542751414
|
0.00003
|
|
NM_182914.3(SYNE2):c.9252C>T (p.Ala3084=)
|
rs200061977
|
0.00003
|
|
NM_182961.4(SYNE1):c.11247G>A (p.Thr3749=)
|
rs138882800
|
0.00003
|
|
NM_182961.4(SYNE1):c.11526T>C (p.Pro3842=)
|
rs767967824
|
0.00003
|
|
NM_182961.4(SYNE1):c.11902-15G>A
|
rs777796940
|
0.00003
|
|
NM_182961.4(SYNE1):c.12114C>T (p.His4038=)
|
rs200294294
|
0.00003
|
|
NM_182961.4(SYNE1):c.12471G>A (p.Lys4157=)
|
rs1014589530
|
0.00003
|
|
NM_182961.4(SYNE1):c.12573C>T (p.Thr4191=)
|
rs143851739
|
0.00003
|
|
NM_182961.4(SYNE1):c.12930C>T (p.Asp4310=)
|
rs760209358
|
0.00003
|
|
NM_182961.4(SYNE1):c.13458A>G (p.Pro4486=)
|
rs998856849
|
0.00003
|
|
NM_182961.4(SYNE1):c.13896G>A (p.Ser4632=)
|
rs1371756749
|
0.00003
|
|
NM_182961.4(SYNE1):c.14103C>T (p.Pro4701=)
|
rs772247507
|
0.00003
|
|
NM_182961.4(SYNE1):c.15063T>C (p.Asn5021=)
|
rs1376958261
|
0.00003
|
|
NM_182961.4(SYNE1):c.15414G>A (p.Ala5138=)
|
rs746436040
|
0.00003
|
|
NM_182961.4(SYNE1):c.15489G>A (p.Glu5163=)
|
rs750155092
|
0.00003
|
|
NM_182961.4(SYNE1):c.16026G>A (p.Thr5342=)
|
rs776275832
|
0.00003
|
|
NM_182961.4(SYNE1):c.16212G>A (p.Ala5404=)
|
rs150928921
|
0.00003
|
|
NM_182961.4(SYNE1):c.17451G>A (p.Thr5817=)
|
rs769954729
|
0.00003
|
|
NM_182961.4(SYNE1):c.17577G>A (p.Pro5859=)
|
rs375662583
|
0.00003
|
|
NM_182961.4(SYNE1):c.18013-16A>G
|
rs1057523334
|
0.00003
|
|
NM_182961.4(SYNE1):c.18363C>T (p.Ala6121=)
|
rs758953542
|
0.00003
|
|
NM_182961.4(SYNE1):c.18609C>T (p.Asp6203=)
|
rs577804095
|
0.00003
|
|
NM_182961.4(SYNE1):c.18675G>A (p.Gln6225=)
|
rs373495185
|
0.00003
|
|
NM_182961.4(SYNE1):c.19083C>T (p.Ala6361=)
|
rs374088995
|
0.00003
|
|
NM_182961.4(SYNE1):c.19180T>C (p.Leu6394=)
|
rs372723292
|
0.00003
|
|
NM_182961.4(SYNE1):c.19242T>C (p.Thr6414=)
|
rs749942439
|
0.00003
|
|
NM_182961.4(SYNE1):c.19927T>C (p.Leu6643=)
|
rs143118084
|
0.00003
|
|
NM_182961.4(SYNE1):c.21474G>A (p.Leu7158=)
|
rs370065996
|
0.00003
|
|
NM_182961.4(SYNE1):c.21819C>T (p.Asp7273=)
|
rs376651419
|
0.00003
|
|
NM_182961.4(SYNE1):c.21862-19A>T
|
rs200421014
|
0.00003
|
|
NM_182961.4(SYNE1):c.22035T>G (p.Thr7345=)
|
rs750669148
|
0.00003
|
|
NM_182961.4(SYNE1):c.23302-8C>T
|
rs376491803
|
0.00003
|
|
NM_182961.4(SYNE1):c.24162G>A (p.Thr8054=)
|
rs185088779
|
0.00003
|
|
NM_182961.4(SYNE1):c.24390G>A (p.Gln8130=)
|
rs768084185
|
0.00003
|
|
NM_182961.4(SYNE1):c.2475G>A (p.Thr825=)
|
rs758181903
|
0.00003
|
|
NM_182961.4(SYNE1):c.25983C>T (p.Asp8661=)
|
rs781435849
|
0.00003
|
|
NM_182961.4(SYNE1):c.310-449A>T
|
rs759834506
|
0.00003
|
|
NM_182961.4(SYNE1):c.3429T>C (p.Asn1143=)
|
rs142372677
|
0.00003
|
|
NM_182961.4(SYNE1):c.3480C>T (p.His1160=)
|
rs757238055
|
0.00003
|
|
NM_182961.4(SYNE1):c.3897G>C (p.Ala1299=)
|
rs753027544
|
0.00003
|
|
NM_182961.4(SYNE1):c.581+17T>G
|
rs747720370
|
0.00003
|
|
NM_182961.4(SYNE1):c.581+8T>C
|
rs772647830
|
0.00003
|
|
NM_182961.4(SYNE1):c.6382-11T>C
|
rs769649824
|
0.00003
|
|
NM_182961.4(SYNE1):c.6522C>T (p.Thr2174=)
|
rs202207841
|
0.00003
|
|
NM_182961.4(SYNE1):c.7878C>T (p.His2626=)
|
rs138196409
|
0.00003
|
|
NM_182961.4(SYNE1):c.8691C>T (p.Leu2897=)
|
rs368356217
|
0.00003
|
|
NM_182961.4(SYNE1):c.9093A>G (p.Arg3031=)
|
rs149317945
|
0.00003
|
|
NM_182961.4(SYNE1):c.9114A>G (p.Gly3038=)
|
rs754978329
|
0.00003
|
|
NM_182961.4(SYNE1):c.9504A>G (p.Leu3168=)
|
rs1020832262
|
0.00003
|
|
NM_000018.4(ACADVL):c.1269+8C>G
|
rs766504482
|
0.00002
|
|
NM_000018.4(ACADVL):c.138+10C>G
|
rs1057523013
|
0.00002
|
|
NM_000018.4(ACADVL):c.138+7C>A
|
rs1462406529
|
0.00002
|
|
NM_000018.4(ACADVL):c.1389G>A (p.Gly463=)
|
rs377305356
|
0.00002
|
|
NM_000018.4(ACADVL):c.1434+7C>T
|
rs748136425
|
0.00002
|
|
NM_000018.4(ACADVL):c.1435-11T>C
|
rs745620433
|
0.00002
|
|
NM_000018.4(ACADVL):c.1614G>A (p.Arg538=)
|
rs144450894
|
0.00002
|
|
NM_000018.4(ACADVL):c.1710C>T (p.Asp570=)
|
rs759638134
|
0.00002
|
|
NM_000018.4(ACADVL):c.1751+12G>A
|
rs1380275062
|
0.00002
|
|
NM_000018.4(ACADVL):c.1765C>T (p.Leu589=)
|
rs533344677
|
0.00002
|
|
NM_000018.4(ACADVL):c.1791G>A (p.Gln597=)
|
rs372453844
|
0.00002
|
|
NM_000018.4(ACADVL):c.1827+8T>C
|
rs941400018
|
0.00002
|
|
NM_000018.4(ACADVL):c.1866G>A (p.Gln622=)
|
rs373898227
|
0.00002
|
|
NM_000018.4(ACADVL):c.273G>A (p.Pro91=)
|
rs778993830
|
0.00002
|
|
NM_000018.4(ACADVL):c.342+14C>T
|
rs567468883
|
0.00002
|
|
NM_000018.4(ACADVL):c.423C>T (p.Ala141=)
|
rs757296575
|
0.00002
|
|
NM_000018.4(ACADVL):c.477+12C>G
|
rs1057523521
|
0.00002
|
|
NM_000018.4(ACADVL):c.477+8C>T
|
rs1437698813
|
0.00002
|
|
NM_000018.4(ACADVL):c.477+9G>A
|
rs780716056
|
0.00002
|
|
NM_000018.4(ACADVL):c.478-8C>G
|
rs1300294861
|
0.00002
|
|
NM_000018.4(ACADVL):c.519C>T (p.Gly173=)
|
rs757830946
|
0.00002
|
|
NM_000018.4(ACADVL):c.622+18G>A
|
rs200740226
|
0.00002
|
|
NM_000018.4(ACADVL):c.822C>T (p.Ala274=)
|
rs372038260
|
0.00002
|
|
NM_000018.4(ACADVL):c.858G>A (p.Arg286=)
|
rs531514327
|
0.00002
|
|
NM_000018.4(ACADVL):c.951G>T (p.Val317=)
|
rs1183459867
|
0.00002
|
|
NM_000018.4(ACADVL):c.957G>A (p.Ser319=)
|
rs143870522
|
0.00002
|
|
NM_000023.4(SGCA):c.37+8G>A
|
rs754950929
|
0.00002
|
|
NM_000023.4(SGCA):c.402C>T (p.Tyr134=)
|
rs780264754
|
0.00002
|
|
NM_000023.4(SGCA):c.445C>T (p.Leu149=)
|
rs1197751622
|
0.00002
|
|
NM_000023.4(SGCA):c.546G>A (p.Gly182=)
|
rs765026954
|
0.00002
|
|
NM_000023.4(SGCA):c.584+13C>A
|
rs565224729
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.123C>T (p.His41=)
|
rs368329470
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.270G>A (p.Leu90=)
|
rs781986219
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.351G>A (p.Lys117=)
|
rs782564325
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.468C>T (p.Gly156=)
|
rs990648341
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.79T>C (p.Leu27=)
|
rs782716787
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.801G>A (p.Thr267=)
|
rs781792950
|
0.00002
|
|
NM_000117.3(EMD):c.188-13C>T
|
rs782141516
|
0.00002
|
|
NM_000117.3(EMD):c.276C>T (p.Asp92=)
|
rs782680849
|
0.00002
|
|
NM_000117.3(EMD):c.333C>T (p.Ala111=)
|
rs782216150
|
0.00002
|
|
NM_000117.3(EMD):c.353G>A (p.Arg118His)
|
rs782201984
|
0.00002
|
|
NM_000117.3(EMD):c.449+10G>C
|
rs782467790
|
0.00002
|
|
NM_000117.3(EMD):c.572T>C (p.Met191Thr)
|
rs782244432
|
0.00002
|
|
NM_000117.3(EMD):c.611G>A (p.Arg204His)
|
rs782642152
|
0.00002
|
|
NM_000117.3(EMD):c.662G>T (p.Arg221Leu)
|
rs782057378
|
0.00002
|
|
NM_000117.3(EMD):c.717C>T (p.Leu239=)
|
rs782369799
|
0.00002
|
|
NM_000117.3(EMD):c.82+17G>A
|
rs1198190299
|
0.00002
|
|
NM_000126.4(ETFA):c.352-8G>T
|
rs767560884
|
0.00002
|
|
NM_000126.4(ETFA):c.39+8C>T
|
rs771448257
|
0.00002
|
|
NM_000126.4(ETFA):c.489G>C (p.Val163=)
|
rs1294335935
|
0.00002
|
|
NM_000126.4(ETFA):c.734-11T>C
|
rs771704448
|
0.00002
|
|
NM_000126.4(ETFA):c.882+8T>C
|
rs776847997
|
0.00002
|
|
NM_000126.4(ETFA):c.882+9A>G
|
rs373161597
|
0.00002
|
|
NM_000152.5(GAA):c.1053G>T (p.Val351=)
|
rs773063199
|
0.00002
|
|
NM_000152.5(GAA):c.1083G>A (p.Pro361=)
|
rs781379047
|
0.00002
|
|
NM_000152.5(GAA):c.1194+16_1194+18del
|
rs750576595
|
0.00002
|
|
NM_000152.5(GAA):c.1194+17G>T
|
rs548850587
|
0.00002
|
|
NM_000152.5(GAA):c.1275G>A (p.Pro425=)
|
rs762826072
|
0.00002
|
|
NM_000152.5(GAA):c.1438-11T>A
|
rs376247021
|
0.00002
|
|
NM_000152.5(GAA):c.1554C>T (p.Asp518=)
|
rs745482879
|
0.00002
|
|
NM_000152.5(GAA):c.1560C>T (p.Asn520=)
|
rs116322271
|
0.00002
|
|
NM_000152.5(GAA):c.1637-17G>A
|
rs1031721446
|
0.00002
|
|
NM_000152.5(GAA):c.1815C>T (p.Gly605=)
|
rs756507404
|
0.00002
|
|
NM_000152.5(GAA):c.1881C>T (p.Ser627=)
|
rs779328815
|
0.00002
|
|
NM_000152.5(GAA):c.1929G>A (p.Gly643=)
|
rs371096565
|
0.00002
|
|
NM_000152.5(GAA):c.216C>T (p.Pro72=)
|
rs753287841
|
0.00002
|
|
NM_000152.5(GAA):c.2331+16C>T
|
rs762495996
|
0.00002
|
|
NM_000152.5(GAA):c.240A>G (p.Thr80=)
|
rs778124725
|
0.00002
|
|
NM_000152.5(GAA):c.2445C>T (p.Asn815=)
|
rs755846997
|
0.00002
|
|
NM_000152.5(GAA):c.2482-19C>T
|
rs750055374
|
0.00002
|
|
NM_000152.5(GAA):c.2610A>G (p.Arg870=)
|
rs375831200
|
0.00002
|
|
NM_000152.5(GAA):c.309C>T (p.Cys103=)
|
rs373307393
|
0.00002
|
|
NM_000152.5(GAA):c.546+2_546+6dup
|
rs753159224
|
0.00002
|
|
NM_000152.5(GAA):c.67A>G (p.Thr23Ala)
|
rs2289537
|
0.00002
|
|
NM_000152.5(GAA):c.687C>T (p.Arg229=)
|
rs149814041
|
0.00002
|
|
NM_000152.5(GAA):c.692+16T>C
|
rs774229249
|
0.00002
|
|
NM_000152.5(GAA):c.72T>C (p.Ala24=)
|
rs747380728
|
0.00002
|
|
NM_000152.5(GAA):c.924C>T (p.His308=)
|
rs370105640
|
0.00002
|
|
NM_000152.5(GAA):c.972G>A (p.Pro324=)
|
rs763445243
|
0.00002
|
|
NM_000182.5(HADHA):c.1089T>C (p.His363=)
|
rs755296795
|
0.00002
|
|
NM_000182.5(HADHA):c.1353C>T (p.Asp451=)
|
rs770306077
|
0.00002
|
|
NM_000182.5(HADHA):c.1656G>A (p.Ala552=)
|
rs541069396
|
0.00002
|
|
NM_000182.5(HADHA):c.1701C>T (p.Asp567=)
|
rs778014305
|
0.00002
|
|
NM_000182.5(HADHA):c.1794T>C (p.His598=)
|
rs149021400
|
0.00002
|
|
NM_000182.5(HADHA):c.183A>G (p.Val61=)
|
rs370149021
|
0.00002
|
|
NM_000182.5(HADHA):c.2133G>A (p.Pro711=)
|
rs186499456
|
0.00002
|
|
NM_000182.5(HADHA):c.2146+10G>A
|
rs768516891
|
0.00002
|
|
NM_000182.5(HADHA):c.2147-10C>T
|
rs371667948
|
0.00002
|
|
NM_000182.5(HADHA):c.9C>T (p.Ala3=)
|
rs1323737552
|
0.00002
|
|
NM_000231.3(SGCG):c.180G>A (p.Val60=)
|
rs919571338
|
0.00002
|
|
NM_000231.3(SGCG):c.324C>A (p.Thr108=)
|
rs747220624
|
0.00002
|
|
NM_000231.3(SGCG):c.333G>A (p.Val111=)
|
rs775265377
|
0.00002
|
|
NM_000231.3(SGCG):c.399A>G (p.Val133=)
|
rs747909634
|
0.00002
|
|
NM_000231.3(SGCG):c.558C>T (p.Ala186=)
|
rs766503990
|
0.00002
|
|
NM_000231.3(SGCG):c.660G>A (p.Ala220=)
|
rs550268354
|
0.00002
|
|
NM_000231.3(SGCG):c.735C>T (p.Pro245=)
|
rs373785384
|
0.00002
|
|
NM_000232.5(SGCB):c.327A>G (p.Arg109=)
|
rs767994334
|
0.00002
|
|
NM_000232.5(SGCB):c.498C>T (p.Ile166=)
|
rs748602445
|
0.00002
|
|
NM_000232.5(SGCB):c.558T>G (p.Thr186=)
|
rs200167048
|
0.00002
|
|
NM_000232.5(SGCB):c.933C>T (p.Asp311=)
|
rs780557395
|
0.00002
|
|
NM_000256.3(MYBPC3):c.108A>G (p.Ala36=)
|
rs754870909
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1149G>T (p.Leu383=)
|
rs1407534196
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1173C>T (p.Asp391=)
|
rs377328238
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1179G>A (p.Glu393=)
|
rs770549835
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1224-16C>T
|
rs1304765753
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1227-18C>A
|
rs761365956
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1290C>T (p.Asp430=)
|
rs200664621
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1320C>T (p.Gly440=)
|
rs368192024
|
0.00002
|
|
NM_000256.3(MYBPC3):c.147C>T (p.Ile49=)
|
rs774273586
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1563C>T (p.Asp521=)
|
rs367915627
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1593G>A (p.Gly531=)
|
rs727503199
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1790+13G>A
|
rs754240709
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1791-8C>T
|
rs1346693579
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1830C>T (p.Asp610=)
|
rs768049705
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1854C>T (p.Pro618=)
|
rs1459242483
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1898-16C>G
|
rs1027874597
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1971C>T (p.Asp657=)
|
rs751397614
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2112C>T (p.Asp704=)
|
rs547477069
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2154G>A (p.Leu718=)
|
rs781477048
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2163C>T (p.Thr721=)
|
rs397515951
|
0.00002
|
|
NM_000256.3(MYBPC3):c.222C>T (p.Ala74=)
|
rs985299902
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2413+18G>A
|
rs768281173
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2712C>T (p.Tyr904=)
|
rs1363489095
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2784G>C (p.Ser928=)
|
rs372510974
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2877G>A (p.Thr959=)
|
rs727503181
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2905+10C>T
|
rs781208731
|
0.00002
|
|
NM_000256.3(MYBPC3):c.293-6C>T
|
rs956147452
|
0.00002
|
|
NM_000256.3(MYBPC3):c.3138G>A (p.Thr1046=)
|
rs762154672
|
0.00002
|
|
NM_000256.3(MYBPC3):c.3414C>T (p.Arg1138=)
|
rs753671465
|
0.00002
|
|
NM_000256.3(MYBPC3):c.3534C>T (p.Ser1178=)
|
rs756160183
|
0.00002
|
|
NM_000256.3(MYBPC3):c.3657G>T (p.Leu1219=)
|
rs770157084
|
0.00002
|
|
NM_000256.3(MYBPC3):c.3708G>A (p.Leu1236=)
|
rs767400149
|
0.00002
|
|
NM_000256.3(MYBPC3):c.502G>A (p.Val168Met)
|
rs569740494
|
0.00002
|
|
NM_000256.3(MYBPC3):c.643C>T (p.Arg215Cys)
|
rs397516063
|
0.00002
|
|
NM_000256.3(MYBPC3):c.655-15C>T
|
rs188327777
|
0.00002
|
|
NM_000256.3(MYBPC3):c.75C>T (p.Ser25=)
|
rs1368122828
|
0.00002
|
|
NM_000256.3(MYBPC3):c.882C>T (p.Asp294=)
|
rs1459586065
|
0.00002
|
|
NM_000256.3(MYBPC3):c.960C>T (p.Asp320=)
|
rs369900803
|
0.00002
|
|
NM_000257.4(MYH7):c.1258-18C>T
|
rs768778032
|
0.00002
|
|
NM_000257.4(MYH7):c.1461G>A (p.Gln487=)
|
rs759736393
|
0.00002
|
|
NM_000257.4(MYH7):c.1518C>T (p.Ile506=)
|
rs397516108
|
0.00002
|
|
NM_000257.4(MYH7):c.1587C>T (p.Gly529=)
|
rs980001629
|
0.00002
|
|
NM_000257.4(MYH7):c.1680C>T (p.Ser560=)
|
rs763574368
|
0.00002
|
|
NM_000257.4(MYH7):c.201+8T>A
|
rs1423323663
|
0.00002
|
|
NM_000257.4(MYH7):c.210C>T (p.Thr70=)
|
rs774429242
|
0.00002
|
|
NM_000257.4(MYH7):c.2121A>G (p.Lys707=)
|
rs1294596631
|
0.00002
|
|
NM_000257.4(MYH7):c.2166T>C (p.Tyr722=)
|
rs1446807021
|
0.00002
|
|
NM_000257.4(MYH7):c.2391C>G (p.Ala797=)
|
rs1323525268
|
0.00002
|
|
NM_000257.4(MYH7):c.2607C>T (p.Arg869=)
|
rs1365184293
|
0.00002
|
|
NM_000257.4(MYH7):c.2628G>A (p.Lys876=)
|
rs749627954
|
0.00002
|
|
NM_000257.4(MYH7):c.2640G>C (p.Leu880=)
|
rs753565218
|
0.00002
|
|
NM_000257.4(MYH7):c.2641C>T (p.Leu881=)
|
rs907992794
|
0.00002
|
|
NM_000257.4(MYH7):c.2721G>A (p.Gln907=)
|
rs762170607
|
0.00002
|
|
NM_000257.4(MYH7):c.2854A>C (p.Arg952=)
|
rs529099974
|
0.00002
|
|
NM_000257.4(MYH7):c.2868T>C (p.Asp956=)
|
rs140718120
|
0.00002
|
|
NM_000257.4(MYH7):c.2976G>A (p.Leu992=)
|
rs368728770
|
0.00002
|
|
NM_000257.4(MYH7):c.3345C>T (p.Ile1115=)
|
rs786204377
|
0.00002
|
|
NM_000257.4(MYH7):c.3462C>T (p.Gly1154=)
|
rs397516185
|
0.00002
|
|
NM_000257.4(MYH7):c.350A>T (p.Tyr117Phe)
|
rs201012865
|
0.00002
|
|
NM_000257.4(MYH7):c.354G>A (p.Ser118=)
|
rs368925624
|
0.00002
|
|
NM_000257.4(MYH7):c.3588C>T (p.His1196=)
|
rs777394877
|
0.00002
|
|
NM_000257.4(MYH7):c.378C>T (p.Asn126=)
|
rs752684566
|
0.00002
|
|
NM_000257.4(MYH7):c.3803G>A (p.Arg1268His)
|
rs397516194
|
0.00002
|
|
NM_000257.4(MYH7):c.3846C>G (p.Thr1282=)
|
rs948996596
|
0.00002
|
|
NM_000257.4(MYH7):c.3854-5C>T
|
rs752385694
|
0.00002
|
|
NM_000257.4(MYH7):c.4017C>T (p.Asp1339=)
|
rs765801393
|
0.00002
|
|
NM_000257.4(MYH7):c.4200T>C (p.Ala1400=)
|
rs760638048
|
0.00002
|
|
NM_000257.4(MYH7):c.4389G>A (p.Ser1463=)
|
rs781203524
|
0.00002
|
|
NM_000257.4(MYH7):c.4500G>A (p.Arg1500=)
|
rs199995198
|
0.00002
|
|
NM_000257.4(MYH7):c.4520-11T>C
|
rs778736821
|
0.00002
|
|
NM_000257.4(MYH7):c.4557C>T (p.Ser1519=)
|
rs150552664
|
0.00002
|
|
NM_000257.4(MYH7):c.4641C>T (p.Ala1547=)
|
rs376854724
|
0.00002
|
|
NM_000257.4(MYH7):c.4834C>T (p.Leu1612=)
|
rs397516229
|
0.00002
|
|
NM_000257.4(MYH7):c.4908C>T (p.Ala1636=)
|
rs150241539
|
0.00002
|
|
NM_000257.4(MYH7):c.4953+14G>A
|
rs758571263
|
0.00002
|
|
NM_000257.4(MYH7):c.4977T>C (p.Asp1659=)
|
rs753021990
|
0.00002
|
|
NM_000257.4(MYH7):c.502+18G>A
|
rs912964540
|
0.00002
|
|
NM_000257.4(MYH7):c.503-4A>G
|
rs376022200
|
0.00002
|
|
NM_000257.4(MYH7):c.5283+20G>T
|
rs771626451
|
0.00002
|
|
NM_000257.4(MYH7):c.5286C>T (p.Ala1762=)
|
rs771432461
|
0.00002
|
|
NM_000257.4(MYH7):c.530+9A>T
|
rs200925769
|
0.00002
|
|
NM_000257.4(MYH7):c.5340G>A (p.Glu1780=)
|
rs752882625
|
0.00002
|
|
NM_000257.4(MYH7):c.5529C>T (p.Ser1843=)
|
rs761162402
|
0.00002
|
|
NM_000257.4(MYH7):c.5559+11C>T
|
rs565014760
|
0.00002
|
|
NM_000257.4(MYH7):c.5559+9G>A
|
rs727503241
|
0.00002
|
|
NM_000257.4(MYH7):c.5655+19G>A
|
rs915005545
|
0.00002
|
|
NM_000257.4(MYH7):c.5664A>G (p.Gln1888=)
|
rs540350007
|
0.00002
|
|
NM_000257.4(MYH7):c.5704G>C (p.Glu1902Gln)
|
rs187073962
|
0.00002
|
|
NM_000257.4(MYH7):c.5730G>A (p.Ala1910=)
|
rs776940948
|
0.00002
|
|
NM_000257.4(MYH7):c.5790+7C>A
|
rs764434831
|
0.00002
|
|
NM_000257.4(MYH7):c.797-10C>A
|
rs757287735
|
0.00002
|
|
NM_000258.3(MYL3):c.105C>T (p.Val35=)
|
rs771114109
|
0.00002
|
|
NM_000258.3(MYL3):c.158-8C>G
|
rs937857201
|
0.00002
|
|
NM_000258.3(MYL3):c.219C>T (p.Tyr73=)
|
rs780500137
|
0.00002
|
|
NM_000258.3(MYL3):c.360C>T (p.His120=)
|
rs1314822874
|
0.00002
|
|
NM_000258.3(MYL3):c.532G>A (p.Asp178Asn)
|
rs145520567
|
0.00002
|
|
NM_000337.6(SGCD):c.193-7A>G
|
rs747018859
|
0.00002
|
|
NM_000337.6(SGCD):c.630C>T (p.Ile210=)
|
rs763051644
|
0.00002
|
|
NM_000337.6(SGCD):c.771G>A (p.Arg257=)
|
rs774579663
|
0.00002
|
|
NM_000337.6(SGCD):c.786G>A (p.Glu262=)
|
rs1197695649
|
0.00002
|
|
NM_000363.5(TNNI3):c.150+12C>A
|
rs767787340
|
0.00002
|
|
NM_000363.5(TNNI3):c.151-6C>G
|
rs377258542
|
0.00002
|
|
NM_000363.5(TNNI3):c.202C>A (p.Arg68=)
|
rs772695512
|
0.00002
|
|
NM_000363.5(TNNI3):c.282+10C>G
|
rs974607293
|
0.00002
|
|
NM_000363.5(TNNI3):c.283-9C>T
|
rs759922995
|
0.00002
|
|
NM_000363.5(TNNI3):c.471G>A (p.Ala157=)
|
rs747756509
|
0.00002
|
|
NM_000363.5(TNNI3):c.543C>T (p.Thr181=)
|
rs926550445
|
0.00002
|
|
NM_000371.4(TTR):c.441A>G (p.Glu147=)
|
rs370056601
|
0.00002
|
|
NM_000371.4(TTR):c.78T>C (p.Gly26=)
|
rs779457244
|
0.00002
|
|
NM_000432.4(MYL2):c.216G>A (p.Glu72=)
|
rs376506450
|
0.00002
|
|
NM_000432.4(MYL2):c.222G>A (p.Pro74=)
|
rs372644111
|
0.00002
|
|
NM_000432.4(MYL2):c.274+7T>C
|
rs771812779
|
0.00002
|
|
NM_000432.4(MYL2):c.30C>T (p.Ala10=)
|
rs752641375
|
0.00002
|
|
NM_000432.4(MYL2):c.354-8C>A
|
rs767657562
|
0.00002
|
|
NM_000432.4(MYL2):c.4-8T>C
|
rs750730703
|
0.00002
|
|
NM_000432.4(MYL2):c.42C>T (p.Asn14=)
|
rs878853980
|
0.00002
|
|
NM_000432.4(MYL2):c.468G>A (p.Val156=)
|
rs137984206
|
0.00002
|
|
NM_000432.4(MYL2):c.474C>T (p.Ile158=)
|
rs1423130699
|
0.00002
|
|
NM_000475.5(NR0B1):c.155A>C (p.Glu52Ala)
|
rs777276628
|
0.00002
|
|
NM_001005242.3(PKP2):c.1171-13G>A
|
rs200137461
|
0.00002
|
|
NM_001005242.3(PKP2):c.1206G>A (p.Gln402=)
|
rs773905605
|
0.00002
|
|
NM_001005242.3(PKP2):c.1308A>G (p.Leu436=)
|
rs1439169005
|
0.00002
|
|
NM_001005242.3(PKP2):c.1379-2071G>A
|
rs776244945
|
0.00002
|
|
NM_001005242.3(PKP2):c.1556+7C>T
|
rs752585335
|
0.00002
|
|
NM_001005242.3(PKP2):c.1557-14G>T
|
rs748072057
|
0.00002
|
|
NM_001005242.3(PKP2):c.1674+15A>C
|
rs749247141
|
0.00002
|
|
NM_001005242.3(PKP2):c.1840-7T>C
|
rs1362643840
|
0.00002
|
|
NM_001005242.3(PKP2):c.1857G>A (p.Pro619=)
|
rs760434776
|
0.00002
|
|
NM_001005242.3(PKP2):c.1878C>T (p.Asn626=)
|
rs769943903
|
0.00002
|
|
NM_001005242.3(PKP2):c.1887C>T (p.Gly629=)
|
rs368325383
|
0.00002
|
|
NM_001005242.3(PKP2):c.2167+8G>A
|
rs371564682
|
0.00002
|
|
NM_001005242.3(PKP2):c.2316C>T (p.Thr772=)
|
rs369837002
|
0.00002
|
|
NM_001005242.3(PKP2):c.2358-19A>G
|
rs767272150
|
0.00002
|
|
NM_001005242.3(PKP2):c.2421G>A (p.Thr807=)
|
rs199900632
|
0.00002
|
|
NM_001005242.3(PKP2):c.387G>A (p.Gln129=)
|
rs768974835
|
0.00002
|
|
NM_001005242.3(PKP2):c.558C>T (p.Ala186=)
|
rs184522105
|
0.00002
|
|
NM_001005242.3(PKP2):c.582T>C (p.Tyr194=)
|
rs532048791
|
0.00002
|
|
NM_001005242.3(PKP2):c.600G>A (p.Val200=)
|
rs781305034
|
0.00002
|
|
NM_001005242.3(PKP2):c.687C>T (p.Thr229=)
|
rs1209406571
|
0.00002
|
|
NM_001005242.3(PKP2):c.804C>T (p.Val268=)
|
rs781271804
|
0.00002
|
|
NM_001005242.3(PKP2):c.978A>G (p.Ala326=)
|
rs775137004
|
0.00002
|
|
NM_001018005.2(TPM1):c.240+11G>A
|
rs367999295
|
0.00002
|
|
NM_001018005.2(TPM1):c.31C>T (p.Leu11=)
|
rs766883758
|
0.00002
|
|
NM_001018005.2(TPM1):c.493-7G>A
|
rs745830368
|
0.00002
|
|
NM_001018005.2(TPM1):c.564-5A>G
|
rs550286836
|
0.00002
|
|
NM_001018005.2(TPM1):c.645G>A (p.Ser215=)
|
rs773403386
|
0.00002
|
|
NM_001018005.2(TPM1):c.663T>C (p.Tyr221=)
|
rs774859181
|
0.00002
|
|
NM_001018005.2(TPM1):c.773-5C>T
|
rs754213660
|
0.00002
|
|
NM_001035.3(RYR2):c.10059C>A (p.Leu3353=)
|
rs370015676
|
0.00002
|
|
NM_001035.3(RYR2):c.1022G>C (p.Gly341Ala)
|
rs565413020
|
0.00002
|
|
NM_001035.3(RYR2):c.10260T>C (p.Val3420=)
|
rs778112871
|
0.00002
|
|
NM_001035.3(RYR2):c.11039+7T>C
|
rs569571855
|
0.00002
|
|
NM_001035.3(RYR2):c.11208G>A (p.Ala3736=)
|
rs750384592
|
0.00002
|
|
NM_001035.3(RYR2):c.1171-11C>T
|
rs200226512
|
0.00002
|
|
NM_001035.3(RYR2):c.11963-4C>T
|
rs747161273
|
0.00002
|
|
NM_001035.3(RYR2):c.11982G>A (p.Thr3994=)
|
rs368634803
|
0.00002
|
|
NM_001035.3(RYR2):c.12039T>C (p.Ile4013=)
|
rs775228348
|
0.00002
|
|
NM_001035.3(RYR2):c.12111C>T (p.Pro4037=)
|
rs770463326
|
0.00002
|
|
NM_001035.3(RYR2):c.1217C>T (p.Ser406Leu)
|
rs759830423
|
0.00002
|
|
NM_001035.3(RYR2):c.12215C>T (p.Thr4072Met)
|
rs928224285
|
0.00002
|
|
NM_001035.3(RYR2):c.12282C>T (p.Ile4094=)
|
rs764339831
|
0.00002
|
|
NM_001035.3(RYR2):c.12331A>C (p.Asn4111His)
|
rs192890834
|
0.00002
|
|
NM_001035.3(RYR2):c.12552G>A (p.Glu4184=)
|
rs1300867476
|
0.00002
|
|
NM_001035.3(RYR2):c.12579C>T (p.Cys4193=)
|
rs369532267
|
0.00002
|
|
NM_001035.3(RYR2):c.12648G>A (p.Ala4216=)
|
rs781557399
|
0.00002
|
|
NM_001035.3(RYR2):c.12865A>G (p.Ser4289Gly)
|
rs1386632671
|
0.00002
|
|
NM_001035.3(RYR2):c.12957C>T (p.Val4319=)
|
rs727504438
|
0.00002
|
|
NM_001035.3(RYR2):c.13195A>G (p.Asn4399Asp)
|
rs764884250
|
0.00002
|
|
NM_001035.3(RYR2):c.13635A>T (p.Thr4545=)
|
rs779762647
|
0.00002
|
|
NM_001035.3(RYR2):c.13712C>T (p.Thr4571Met)
|
rs200803276
|
0.00002
|
|
NM_001035.3(RYR2):c.14019C>T (p.Asp4673=)
|
rs1303103945
|
0.00002
|
|
NM_001035.3(RYR2):c.1404G>A (p.Glu468=)
|
rs768538183
|
0.00002
|
|
NM_001035.3(RYR2):c.14090+19C>T
|
rs534019715
|
0.00002
|
|
NM_001035.3(RYR2):c.14151+14A>G
|
rs1451364457
|
0.00002
|
|
NM_001035.3(RYR2):c.14406A>G (p.Pro4802=)
|
rs767234031
|
0.00002
|
|
NM_001035.3(RYR2):c.14434-14T>A
|
rs1490862924
|
0.00002
|
|
NM_001035.3(RYR2):c.1464C>T (p.Leu488=)
|
rs755432808
|
0.00002
|
|
NM_001035.3(RYR2):c.14721C>T (p.Thr4907=)
|
rs766261818
|
0.00002
|
|
NM_001035.3(RYR2):c.14808+13T>A
|
rs747353568
|
0.00002
|
|
NM_001035.3(RYR2):c.14808+15A>G
|
rs769022695
|
0.00002
|
|
NM_001035.3(RYR2):c.14871C>T (p.Cys4957=)
|
rs752034170
|
0.00002
|
|
NM_001035.3(RYR2):c.14896C>T (p.Leu4966=)
|
rs368031082
|
0.00002
|
|
NM_001035.3(RYR2):c.1612+8G>A
|
rs375122829
|
0.00002
|
|
NM_001035.3(RYR2):c.1675A>G (p.Ile559Val)
|
rs773609522
|
0.00002
|
|
NM_001035.3(RYR2):c.1709-4T>C
|
rs1482457874
|
0.00002
|
|
NM_001035.3(RYR2):c.1828-10C>A
|
rs755233180
|
0.00002
|
|
NM_001035.3(RYR2):c.2029T>A (p.Leu677Met)
|
rs750815004
|
0.00002
|
|
NM_001035.3(RYR2):c.2130C>T (p.Gly710=)
|
rs536694711
|
0.00002
|
|
NM_001035.3(RYR2):c.232C>T (p.Leu78=)
|
rs1454549719
|
0.00002
|
|
NM_001035.3(RYR2):c.2374G>A (p.Val792Ile)
|
rs764485892
|
0.00002
|
|
NM_001035.3(RYR2):c.2397-12C>T
|
rs754549931
|
0.00002
|
|
NM_001035.3(RYR2):c.273+9C>T
|
rs770574179
|
0.00002
|
|
NM_001035.3(RYR2):c.3093C>T (p.Arg1031=)
|
rs775738392
|
0.00002
|
|
NM_001035.3(RYR2):c.3168G>A (p.Thr1056=)
|
rs1183058696
|
0.00002
|
|
NM_001035.3(RYR2):c.3180C>T (p.Tyr1060=)
|
rs398123540
|
0.00002
|
|
NM_001035.3(RYR2):c.3237C>T (p.Ser1079=)
|
rs770116364
|
0.00002
|
|
NM_001035.3(RYR2):c.3461G>A (p.Arg1154His)
|
rs530867686
|
0.00002
|
|
NM_001035.3(RYR2):c.372C>G (p.Ser124=)
|
rs1478989523
|
0.00002
|
|
NM_001035.3(RYR2):c.384+11_384+12del
|
rs773309544
|
0.00002
|
|
NM_001035.3(RYR2):c.3877C>G (p.Gln1293Glu)
|
rs962100875
|
0.00002
|
|
NM_001035.3(RYR2):c.3978C>G (p.Gly1326=)
|
rs745839967
|
0.00002
|
|
NM_001035.3(RYR2):c.40C>T (p.Leu14=)
|
rs878854156
|
0.00002
|
|
NM_001035.3(RYR2):c.4148G>A (p.Arg1383His)
|
rs752124839
|
0.00002
|
|
NM_001035.3(RYR2):c.4160+16G>A
|
rs587781142
|
0.00002
|
|
NM_001035.3(RYR2):c.4329G>A (p.Val1443=)
|
rs397516531
|
0.00002
|
|
NM_001035.3(RYR2):c.4489G>A (p.Gly1497Arg)
|
rs748678280
|
0.00002
|
|
NM_001035.3(RYR2):c.453G>A (p.Glu151=)
|
rs541334277
|
0.00002
|
|
NM_001035.3(RYR2):c.4603C>T (p.Pro1535Ser)
|
rs1376021262
|
0.00002
|
|
NM_001035.3(RYR2):c.464-17T>C
|
rs1424840637
|
0.00002
|
|
NM_001035.3(RYR2):c.4684-15C>T
|
rs201780507
|
0.00002
|
|
NM_001035.3(RYR2):c.4852T>C (p.Leu1618=)
|
rs780985525
|
0.00002
|
|
NM_001035.3(RYR2):c.4899T>C (p.Pro1633=)
|
rs1060503853
|
0.00002
|
|
NM_001035.3(RYR2):c.4917T>C (p.Val1639=)
|
rs1060503850
|
0.00002
|
|
NM_001035.3(RYR2):c.5181C>A (p.Val1727=)
|
rs776534086
|
0.00002
|
|
NM_001035.3(RYR2):c.5199G>A (p.Thr1733=)
|
rs758505260
|
0.00002
|
|
NM_001035.3(RYR2):c.5254G>A (p.Gly1752Ser)
|
rs771662129
|
0.00002
|
|
NM_001035.3(RYR2):c.5428G>C (p.Val1810Leu)
|
rs754364233
|
0.00002
|
|
NM_001035.3(RYR2):c.5509G>A (p.Glu1837Lys)
|
rs749184443
|
0.00002
|
|
NM_001035.3(RYR2):c.5517G>A (p.Leu1839=)
|
rs369835453
|
0.00002
|
|
NM_001035.3(RYR2):c.5574G>A (p.Glu1858=)
|
rs752393757
|
0.00002
|
|
NM_001035.3(RYR2):c.5671G>A (p.Glu1891Lys)
|
rs1224597817
|
0.00002
|
|
NM_001035.3(RYR2):c.5715+8G>A
|
rs763395468
|
0.00002
|
|
NM_001035.3(RYR2):c.6006T>C (p.Asp2002=)
|
rs1234291975
|
0.00002
|
|
NM_001035.3(RYR2):c.6083G>A (p.Arg2028His)
|
rs1313042151
|
0.00002
|
|
NM_001035.3(RYR2):c.6234C>T (p.Pro2078=)
|
rs748063607
|
0.00002
|
|
NM_001035.3(RYR2):c.6495G>A (p.Leu2165=)
|
rs1328477417
|
0.00002
|
|
NM_001035.3(RYR2):c.6537T>G (p.Leu2179=)
|
rs1450139846
|
0.00002
|
|
NM_001035.3(RYR2):c.676+18A>G
|
rs1173261409
|
0.00002
|
|
NM_001035.3(RYR2):c.6793-12T>C
|
rs180775271
|
0.00002
|
|
NM_001035.3(RYR2):c.6800G>A (p.Arg2267His)
|
rs759012078
|
0.00002
|
|
NM_001035.3(RYR2):c.7115+20C>G
|
rs373092652
|
0.00002
|
|
NM_001035.3(RYR2):c.7284C>T (p.Pro2428=)
|
rs563608396
|
0.00002
|
|
NM_001035.3(RYR2):c.7315G>A (p.Ala2439Thr)
|
rs367818536
|
0.00002
|
|
NM_001035.3(RYR2):c.7329A>G (p.Pro2443=)
|
rs375553387
|
0.00002
|
|
NM_001035.3(RYR2):c.7458T>G (p.His2486Gln)
|
rs377763795
|
0.00002
|
|
NM_001035.3(RYR2):c.7965+16G>A
|
rs1242583907
|
0.00002
|
|
NM_001035.3(RYR2):c.8013A>G (p.Ala2671=)
|
rs1237709417
|
0.00002
|
|
NM_001035.3(RYR2):c.8205C>A (p.Asp2735Glu)
|
rs794728823
|
0.00002
|
|
NM_001035.3(RYR2):c.8407C>T (p.Arg2803Trp)
|
rs754674622
|
0.00002
|
|
NM_001035.3(RYR2):c.8408G>A (p.Arg2803Gln)
|
rs780643623
|
0.00002
|
|
NM_001035.3(RYR2):c.8449G>A (p.Ala2817Thr)
|
rs527576067
|
0.00002
|
|
NM_001035.3(RYR2):c.8590+18C>T
|
rs376966521
|
0.00002
|
|
NM_001035.3(RYR2):c.8742G>A (p.Thr2914=)
|
rs751520306
|
0.00002
|
|
NM_001035.3(RYR2):c.8798T>G (p.Val2933Gly)
|
rs550691734
|
0.00002
|
|
NM_001035.3(RYR2):c.8896-14T>C
|
rs761596075
|
0.00002
|
|
NM_001035.3(RYR2):c.9085A>G (p.Ile3029Val)
|
rs370141970
|
0.00002
|
|
NM_001035.3(RYR2):c.9259C>T (p.Pro3087Ser)
|
rs777736127
|
0.00002
|
|
NM_001035.3(RYR2):c.9442G>A (p.Val3148Met)
|
rs876657994
|
0.00002
|
|
NM_001035.3(RYR2):c.9585C>T (p.Leu3195=)
|
rs747861813
|
0.00002
|
|
NM_001035.3(RYR2):c.9738G>A (p.Met3246Ile)
|
rs771846177
|
0.00002
|
|
NM_001103.4(ACTN2):c.1057C>T (p.Arg353Trp)
|
rs1150181
|
0.00002
|
|
NM_001103.4(ACTN2):c.1081A>G (p.Met361Val)
|
rs368409665
|
0.00002
|
|
NM_001103.4(ACTN2):c.1108-5C>T
|
rs369956166
|
0.00002
|
|
NM_001103.4(ACTN2):c.1117G>A (p.Gly373Ser)
|
rs769980647
|
0.00002
|
|
NM_001103.4(ACTN2):c.1155C>T (p.Tyr385=)
|
rs532155333
|
0.00002
|
|
NM_001103.4(ACTN2):c.1256-8C>T
|
rs747638397
|
0.00002
|
|
NM_001103.4(ACTN2):c.127-20G>A
|
rs545717349
|
0.00002
|
|
NM_001103.4(ACTN2):c.1313G>A (p.Arg438Gln)
|
rs747534491
|
0.00002
|
|
NM_001103.4(ACTN2):c.1372G>A (p.Val458Met)
|
rs895000018
|
0.00002
|
|
NM_001103.4(ACTN2):c.1425C>T (p.Asp475=)
|
rs148223734
|
0.00002
|
|
NM_001103.4(ACTN2):c.1515+17A>C
|
rs774622952
|
0.00002
|
|
NM_001103.4(ACTN2):c.1657-19A>G
|
rs1182422103
|
0.00002
|
|
NM_001103.4(ACTN2):c.1731C>T (p.Ala577=)
|
rs750405065
|
0.00002
|
|
NM_001103.4(ACTN2):c.1822C>T (p.Arg608Trp)
|
rs397516571
|
0.00002
|
|
NM_001103.4(ACTN2):c.1974+11G>A
|
rs567601447
|
0.00002
|
|
NM_001103.4(ACTN2):c.1980T>A (p.Ile660=)
|
rs1324637027
|
0.00002
|
|
NM_001103.4(ACTN2):c.2496C>T (p.Ile832=)
|
rs189019392
|
0.00002
|
|
NM_001103.4(ACTN2):c.2527-18G>A
|
rs1486613146
|
0.00002
|
|
NM_001103.4(ACTN2):c.2643C>T (p.Tyr881=)
|
rs727505177
|
0.00002
|
|
NM_001103.4(ACTN2):c.419G>A (p.Arg140His)
|
rs370689695
|
0.00002
|
|
NM_001103.4(ACTN2):c.537-11C>T
|
rs367744285
|
0.00002
|
|
NM_001103.4(ACTN2):c.66G>A (p.Gln22=)
|
rs761544833
|
0.00002
|
|
NM_001103.4(ACTN2):c.745G>A (p.Val249Ile)
|
rs771260546
|
0.00002
|
|
NM_001103.4(ACTN2):c.762C>T (p.His254=)
|
rs397516584
|
0.00002
|
|
NM_001103.4(ACTN2):c.771G>A (p.Ala257=)
|
rs201545916
|
0.00002
|
|
NM_001103.4(ACTN2):c.895C>T (p.Arg299Cys)
|
rs779109533
|
0.00002
|
|
NM_001105206.3(LAMA4):c.2494-13T>C
|
rs576422943
|
0.00002
|
|
NM_001105206.3(LAMA4):c.2616G>A (p.Pro872=)
|
rs782403895
|
0.00002
|
|
NM_001105206.3(LAMA4):c.2625C>T (p.Thr875=)
|
rs782484672
|
0.00002
|
|
NM_001105206.3(LAMA4):c.3357T>G (p.Pro1119=)
|
rs782316528
|
0.00002
|
|
NM_001105206.3(LAMA4):c.36T>C (p.Pro12=)
|
rs782309477
|
0.00002
|
|
NM_001105206.3(LAMA4):c.4330C>T (p.Leu1444=)
|
rs376195272
|
0.00002
|
|
NM_001105206.3(LAMA4):c.4665+7T>C
|
rs751477013
|
0.00002
|
|
NM_001105206.3(LAMA4):c.4839T>C (p.Ser1613=)
|
rs782331970
|
0.00002
|
|
NM_001105206.3(LAMA4):c.5029C>T (p.Arg1677Cys)
|
rs587753056
|
0.00002
|
|
NM_001105206.3(LAMA4):c.720G>A (p.Val240=)
|
rs781915056
|
0.00002
|
|
NM_001105206.3(LAMA4):c.815-13G>A
|
rs372004668
|
0.00002
|
|
NM_001122630.2(CDKN1C):c.138C>T (p.Asp46=)
|
rs777465972
|
0.00002
|
|
NM_001122630.2(CDKN1C):c.459G>A (p.Pro153=)
|
rs1273572500
|
0.00002
|
|
NM_001122630.2(CDKN1C):c.45C>T (p.Arg15=)
|
rs1360965916
|
0.00002
|
|
NM_001122630.2(CDKN1C):c.507G>A (p.Pro169=)
|
rs1419249357
|
0.00002
|
|
NM_001122630.2(CDKN1C):c.51C>T (p.Ser17=)
|
rs1216953646
|
0.00002
|
|
NM_001122630.2(CDKN1C):c.540C>A (p.Ala180=)
|
rs1429391694
|
0.00002
|
|
NM_001122630.2(CDKN1C):c.549A>G (p.Pro183=)
|
rs1340993922
|
0.00002
|
|
NM_001122630.2(CDKN1C):c.553G>C (p.Ala185Pro)
|
rs1281835164
|
0.00002
|
|
NM_001122630.2(CDKN1C):c.654C>T (p.Asn218=)
|
rs1232547627
|
0.00002
|
|
NM_001122630.2(CDKN1C):c.787+19C>T
|
rs752846343
|
0.00002
|
|
NM_001122630.2(CDKN1C):c.798C>T (p.Ala266=)
|
rs939444064
|
0.00002
|
|
NM_001130965.3(SUN1):c.1092C>T (p.Gly364=)
|
rs777887455
|
0.00002
|
|
NM_001130965.3(SUN1):c.1525-18C>T
|
rs768301493
|
0.00002
|
|
NM_001130965.3(SUN1):c.1659C>T (p.Asp553=)
|
rs752578715
|
0.00002
|
|
NM_001130965.3(SUN1):c.1780-8C>T
|
rs755436273
|
0.00002
|
|
NM_001130965.3(SUN1):c.1941G>A (p.Pro647=)
|
rs199720270
|
0.00002
|
|
NM_001130965.3(SUN1):c.1959G>A (p.Gln653=)
|
rs745489333
|
0.00002
|
|
NM_001130965.3(SUN1):c.2034G>T (p.Leu678=)
|
rs1160213850
|
0.00002
|
|
NM_001130965.3(SUN1):c.2142C>T (p.Ala714=)
|
rs561697837
|
0.00002
|
|
NM_001130965.3(SUN1):c.345C>T (p.Gly115=)
|
rs538774385
|
0.00002
|
|
NM_001130965.3(SUN1):c.525C>T (p.Ala175=)
|
rs368543045
|
0.00002
|
|
NM_001130965.3(SUN1):c.885G>C (p.Leu295Phe)
|
rs187616677
|
0.00002
|
|
NM_001134363.3(RBM20):c.1019C>T (p.Pro340Leu)
|
rs730880181
|
0.00002
|
|
NM_001134363.3(RBM20):c.1135G>A (p.Gly379Arg)
|
rs199842148
|
0.00002
|
|
NM_001134363.3(RBM20):c.1175G>A (p.Arg392Gln)
|
rs751788298
|
0.00002
|
|
NM_001134363.3(RBM20):c.1209C>T (p.His403=)
|
rs397516592
|
0.00002
|
|
NM_001134363.3(RBM20):c.1232C>T (p.Pro411Leu)
|
rs552114741
|
0.00002
|
|
NM_001134363.3(RBM20):c.1329C>G (p.Phe443Leu)
|
rs876657972
|
0.00002
|
|
NM_001134363.3(RBM20):c.1338-20C>T
|
rs777211196
|
0.00002
|
|
NM_001134363.3(RBM20):c.1349G>A (p.Arg450Gln)
|
rs377091991
|
0.00002
|
|
NM_001134363.3(RBM20):c.1429+9G>A
|
rs1180340998
|
0.00002
|
|
NM_001134363.3(RBM20):c.1459G>A (p.Val487Met)
|
rs397516595
|
0.00002
|
|
NM_001134363.3(RBM20):c.1528-18G>A
|
rs1336820301
|
0.00002
|
|
NM_001134363.3(RBM20):c.1542A>G (p.Lys514=)
|
rs1463897410
|
0.00002
|
|
NM_001134363.3(RBM20):c.1545G>C (p.Gly515=)
|
rs1208880928
|
0.00002
|
|
NM_001134363.3(RBM20):c.1617G>T (p.Gly539=)
|
rs761674598
|
0.00002
|
|
NM_001134363.3(RBM20):c.1708A>G (p.Met570Val)
|
rs1222756409
|
0.00002
|
|
NM_001134363.3(RBM20):c.1748G>A (p.Gly583Asp)
|
rs767827357
|
0.00002
|
|
NM_001134363.3(RBM20):c.1820C>T (p.Ala607Val)
|
rs947755400
|
0.00002
|
|
NM_001134363.3(RBM20):c.1953C>T (p.Ser651=)
|
rs1464394104
|
0.00002
|
|
NM_001134363.3(RBM20):c.2022C>T (p.Asp674=)
|
rs1171457488
|
0.00002
|
|
NM_001134363.3(RBM20):c.2107A>G (p.Arg703Gly)
|
rs899167549
|
0.00002
|
|
NM_001134363.3(RBM20):c.2214G>A (p.Pro738=)
|
rs1057523887
|
0.00002
|
|
NM_001134363.3(RBM20):c.2263C>T (p.Arg755Cys)
|
rs770910910
|
0.00002
|
|
NM_001134363.3(RBM20):c.2282G>A (p.Arg761Gln)
|
rs556897484
|
0.00002
|
|
NM_001134363.3(RBM20):c.2333C>T (p.Ala778Val)
|
rs397516602
|
0.00002
|
|
NM_001134363.3(RBM20):c.2338G>A (p.Gly780Arg)
|
rs750988872
|
0.00002
|
|
NM_001134363.3(RBM20):c.2451C>T (p.Gly817=)
|
rs1346044592
|
0.00002
|
|
NM_001134363.3(RBM20):c.2550+12T>C
|
rs747168352
|
0.00002
|
|
NM_001134363.3(RBM20):c.2679T>G (p.Ser893Arg)
|
rs1243335115
|
0.00002
|
|
NM_001134363.3(RBM20):c.2814A>G (p.Lys938=)
|
rs1022202424
|
0.00002
|
|
NM_001134363.3(RBM20):c.2968A>G (p.Ser990Gly)
|
rs1353948871
|
0.00002
|
|
NM_001134363.3(RBM20):c.2986G>T (p.Asp996Tyr)
|
rs794729155
|
0.00002
|
|
NM_001134363.3(RBM20):c.3023G>A (p.Arg1008Gln)
|
rs886038858
|
0.00002
|
|
NM_001134363.3(RBM20):c.3046G>A (p.Gly1016Ser)
|
rs794729156
|
0.00002
|
|
NM_001134363.3(RBM20):c.3185T>C (p.Phe1062Ser)
|
rs1479765434
|
0.00002
|
|
NM_001134363.3(RBM20):c.3216C>T (p.Pro1072=)
|
rs370346662
|
0.00002
|
|
NM_001134363.3(RBM20):c.3452-19A>G
|
rs1024831754
|
0.00002
|
|
NM_001134363.3(RBM20):c.3464T>C (p.Val1155Ala)
|
rs794729158
|
0.00002
|
|
NM_001134363.3(RBM20):c.3550G>A (p.Ala1184Thr)
|
rs1300657058
|
0.00002
|
|
NM_001134363.3(RBM20):c.3603C>G (p.Gly1201=)
|
rs397516617
|
0.00002
|
|
NM_001134363.3(RBM20):c.3615C>T (p.Thr1205=)
|
rs1290529555
|
0.00002
|
|
NM_001134363.3(RBM20):c.409C>T (p.Leu137=)
|
rs876657570
|
0.00002
|
|
NM_001134363.3(RBM20):c.432T>G (p.Thr144=)
|
rs1241413079
|
0.00002
|
|
NM_001134363.3(RBM20):c.594T>C (p.Pro198=)
|
rs1293542778
|
0.00002
|
|
NM_001134363.3(RBM20):c.83G>A (p.Gly28Asp)
|
rs1466787506
|
0.00002
|
|
NM_001134363.3(RBM20):c.954A>G (p.Gln318=)
|
rs766779254
|
0.00002
|
|
NM_001134363.3(RBM20):c.977C>T (p.Ser326Leu)
|
rs754268847
|
0.00002
|
|
NM_001134363.3(RBM20):c.978G>A (p.Ser326=)
|
rs930912173
|
0.00002
|
|
NM_001159699.2(FHL1):c.204+18G>T
|
rs764595951
|
0.00002
|
|
NM_001159699.2(FHL1):c.205-9G>C
|
rs1178092343
|
0.00002
|
|
NM_001159699.2(FHL1):c.447G>A (p.Lys149=)
|
rs768142579
|
0.00002
|
|
NM_001159699.2(FHL1):c.534C>T (p.Cys178=)
|
rs377693754
|
0.00002
|
|
NM_001159699.2(FHL1):c.573T>G (p.Thr191=)
|
rs2073910530
|
0.00002
|
|
NM_001159699.2(FHL1):c.612T>C (p.Cys204=)
|
rs752193492
|
0.00002
|
|
NM_001159699.2(FHL1):c.737-12_737-8del
|
rs761074507
|
0.00002
|
|
NM_001159699.2(FHL1):c.809A>G (p.Lys270Arg)
|
rs768705041
|
0.00002
|
|
NM_001161403.3(LIMS2):c.171+14dup
|
rs1272057458
|
0.00002
|
|
NM_001161403.3(LIMS2):c.238+9G>A
|
rs767238091
|
0.00002
|
|
NM_001161403.3(LIMS2):c.509+15C>T
|
rs749682980
|
0.00002
|
|
NM_001161403.3(LIMS2):c.509+8C>T
|
rs775246782
|
0.00002
|
|
NM_001161403.3(LIMS2):c.802+7C>A
|
rs748150053
|
0.00002
|
|
NM_001161403.3(LIMS2):c.939G>A (p.Pro313=)
|
rs773583305
|
0.00002
|
|
NM_001232.4(CASQ2):c.1074G>A (p.Leu358=)
|
rs753872950
|
0.00002
|
|
NM_001232.4(CASQ2):c.114C>T (p.Ser38=)
|
rs571353035
|
0.00002
|
|
NM_001232.4(CASQ2):c.474C>T (p.Phe158=)
|
rs754879716
|
0.00002
|
|
NM_001232.4(CASQ2):c.607-17A>G
|
rs374227794
|
0.00002
|
|
NM_001232.4(CASQ2):c.762A>G (p.Pro254=)
|
rs753016201
|
0.00002
|
|
NM_001256850.1(TTN):c.54704-10C>T
|
rs775224600
|
0.00002
|
|
NM_001267550.2(TTN):c.100047A>C (p.Thr33349=)
|
rs727504698
|
0.00002
|
|
NM_001267550.2(TTN):c.10115-17T>G
|
rs932815761
|
0.00002
|
|
NM_001267550.2(TTN):c.10115-5C>T
|
rs527370500
|
0.00002
|
|
NM_001267550.2(TTN):c.101622C>T (p.Asn33874=)
|
rs780835388
|
0.00002
|
|
NM_001267550.2(TTN):c.10164G>T (p.Arg3388=)
|
rs542799064
|
0.00002
|
|
NM_001267550.2(TTN):c.101862C>T (p.Thr33954=)
|
rs768467821
|
0.00002
|
|
NM_001267550.2(TTN):c.102024A>G (p.Leu34008=)
|
rs727504677
|
0.00002
|
|
NM_001267550.2(TTN):c.10212C>T (p.Ala3404=)
|
rs150406319
|
0.00002
|
|
NM_001267550.2(TTN):c.102276T>C (p.Arg34092=)
|
rs369174451
|
0.00002
|
|
NM_001267550.2(TTN):c.102363G>A (p.Lys34121=)
|
rs758224214
|
0.00002
|
|
NM_001267550.2(TTN):c.10244C>T (p.Thr3415Met)
|
rs761799688
|
0.00002
|
|
NM_001267550.2(TTN):c.102711C>T (p.Cys34237=)
|
rs568801205
|
0.00002
|
|
NM_001267550.2(TTN):c.102810T>C (p.Tyr34270=)
|
rs539544170
|
0.00002
|
|
NM_001267550.2(TTN):c.10304-16G>C
|
rs570642353
|
0.00002
|
|
NM_001267550.2(TTN):c.103074T>C (p.Asp34358=)
|
rs774488640
|
0.00002
|
|
NM_001267550.2(TTN):c.103143C>T (p.Cys34381=)
|
rs183058255
|
0.00002
|
|
NM_001267550.2(TTN):c.103293G>A (p.Thr34431=)
|
rs763171022
|
0.00002
|
|
NM_001267550.2(TTN):c.103302T>C (p.Tyr34434=)
|
rs773408387
|
0.00002
|
|
NM_001267550.2(TTN):c.103464T>G (p.Ser34488=)
|
rs960287076
|
0.00002
|
|
NM_001267550.2(TTN):c.103536G>A (p.Pro34512=)
|
rs772961147
|
0.00002
|
|
NM_001267550.2(TTN):c.104076A>G (p.Ser34692=)
|
rs749741308
|
0.00002
|
|
NM_001267550.2(TTN):c.104691G>A (p.Ser34897=)
|
rs369619711
|
0.00002
|
|
NM_001267550.2(TTN):c.105212C>G (p.Ser35071Cys)
|
rs3813249
|
0.00002
|
|
NM_001267550.2(TTN):c.105261G>A (p.Thr35087=)
|
rs556741970
|
0.00002
|
|
NM_001267550.2(TTN):c.105423C>T (p.Tyr35141=)
|
rs534484592
|
0.00002
|
|
NM_001267550.2(TTN):c.105653T>C (p.Ile35218Thr)
|
rs143499441
|
0.00002
|
|
NM_001267550.2(TTN):c.106083T>C (p.Ile35361=)
|
rs1196945123
|
0.00002
|
|
NM_001267550.2(TTN):c.10611C>T (p.Tyr3537=)
|
rs1450670321
|
0.00002
|
|
NM_001267550.2(TTN):c.106152G>A (p.Glu35384=)
|
rs776327038
|
0.00002
|
|
NM_001267550.2(TTN):c.106293T>C (p.Val35431=)
|
rs749108651
|
0.00002
|
|
NM_001267550.2(TTN):c.106422G>C (p.Gly35474=)
|
rs779310314
|
0.00002
|
|
NM_001267550.2(TTN):c.106911A>G (p.Lys35637=)
|
rs767045071
|
0.00002
|
|
NM_001267550.2(TTN):c.107427C>T (p.Asp35809=)
|
rs752446817
|
0.00002
|
|
NM_001267550.2(TTN):c.107680+19G>A
|
rs771282051
|
0.00002
|
|
NM_001267550.2(TTN):c.108G>A (p.Glu36=)
|
rs752216002
|
0.00002
|
|
NM_001267550.2(TTN):c.10944T>C (p.Ser3648=)
|
rs776316691
|
0.00002
|
|
NM_001267550.2(TTN):c.11311+9A>G
|
rs1014777394
|
0.00002
|
|
NM_001267550.2(TTN):c.11439C>T (p.Ser3813=)
|
rs770399607
|
0.00002
|
|
NM_001267550.2(TTN):c.11862T>A (p.Pro3954=)
|
rs749519968
|
0.00002
|
|
NM_001267550.2(TTN):c.1197G>A (p.Ser399=)
|
rs573255254
|
0.00002
|
|
NM_001267550.2(TTN):c.12324T>C (p.Pro4108=)
|
rs537284713
|
0.00002
|
|
NM_001267550.2(TTN):c.12594A>T (p.Thr4198=)
|
rs777609617
|
0.00002
|
|
NM_001267550.2(TTN):c.1314G>A (p.Val438=)
|
rs565472070
|
0.00002
|
|
NM_001267550.2(TTN):c.1332C>T (p.Ser444=)
|
rs759520186
|
0.00002
|
|
NM_001267550.2(TTN):c.13641G>A (p.Leu4547=)
|
rs768023034
|
0.00002
|
|
NM_001267550.2(TTN):c.13782G>A (p.Gln4594=)
|
rs188071134
|
0.00002
|
|
NM_001267550.2(TTN):c.13989C>T (p.Ile4663=)
|
rs1361452637
|
0.00002
|
|
NM_001267550.2(TTN):c.13G>A (p.Ala5Thr)
|
rs552620474
|
0.00002
|
|
NM_001267550.2(TTN):c.14093-7T>C
|
rs1023151846
|
0.00002
|
|
NM_001267550.2(TTN):c.14136A>C (p.Ala4712=)
|
rs370115946
|
0.00002
|
|
NM_001267550.2(TTN):c.14235G>A (p.Lys4745=)
|
rs756868442
|
0.00002
|
|
NM_001267550.2(TTN):c.14256G>A (p.Lys4752=)
|
rs755888927
|
0.00002
|
|
NM_001267550.2(TTN):c.14502A>G (p.Ala4834=)
|
rs779926164
|
0.00002
|
|
NM_001267550.2(TTN):c.14935+10G>A
|
rs148215787
|
0.00002
|
|
NM_001267550.2(TTN):c.14936-4G>T
|
rs571164689
|
0.00002
|
|
NM_001267550.2(TTN):c.14949C>T (p.Phe4983=)
|
rs758324605
|
0.00002
|
|
NM_001267550.2(TTN):c.15217+19C>T
|
rs752582652
|
0.00002
|
|
NM_001267550.2(TTN):c.15459C>T (p.Val5153=)
|
rs762428326
|
0.00002
|
|
NM_001267550.2(TTN):c.15497-11T>G
|
rs749940464
|
0.00002
|
|
NM_001267550.2(TTN):c.15600A>G (p.Thr5200=)
|
rs369464051
|
0.00002
|
|
NM_001267550.2(TTN):c.15633C>T (p.Asp5211=)
|
rs534365478
|
0.00002
|
|
NM_001267550.2(TTN):c.15687T>C (p.Asp5229=)
|
rs748343761
|
0.00002
|
|
NM_001267550.2(TTN):c.15775+15A>C
|
rs776801864
|
0.00002
|
|
NM_001267550.2(TTN):c.15903G>A (p.Leu5301=)
|
rs1352430801
|
0.00002
|
|
NM_001267550.2(TTN):c.16185A>G (p.Lys5395=)
|
rs747055000
|
0.00002
|
|
NM_001267550.2(TTN):c.16557G>A (p.Thr5519=)
|
rs753480595
|
0.00002
|
|
NM_001267550.2(TTN):c.16904-8T>A
|
rs774983607
|
0.00002
|
|
NM_001267550.2(TTN):c.16959T>C (p.Asp5653=)
|
rs770260995
|
0.00002
|
|
NM_001267550.2(TTN):c.17319C>T (p.Asp5773=)
|
rs760724229
|
0.00002
|
|
NM_001267550.2(TTN):c.17442T>C (p.Ser5814=)
|
rs770532942
|
0.00002
|
|
NM_001267550.2(TTN):c.17565A>G (p.Lys5855=)
|
rs745763221
|
0.00002
|
|
NM_001267550.2(TTN):c.17895C>T (p.Tyr5965=)
|
rs780642441
|
0.00002
|
|
NM_001267550.2(TTN):c.1801-10G>T
|
rs931963044
|
0.00002
|
|
NM_001267550.2(TTN):c.1801-4del
|
rs759286606
|
0.00002
|
|
NM_001267550.2(TTN):c.1801-5A>C
|
rs772349556
|
0.00002
|
|
NM_001267550.2(TTN):c.18084G>A (p.Arg6028=)
|
rs775372762
|
0.00002
|
|
NM_001267550.2(TTN):c.18087A>T (p.Val6029=)
|
rs748559391
|
0.00002
|
|
NM_001267550.2(TTN):c.18307+13C>T
|
rs201930482
|
0.00002
|
|
NM_001267550.2(TTN):c.1851A>C (p.Thr617=)
|
rs727504530
|
0.00002
|
|
NM_001267550.2(TTN):c.18549C>T (p.Asp6183=)
|
rs200549353
|
0.00002
|
|
NM_001267550.2(TTN):c.18609A>G (p.Arg6203=)
|
rs777227340
|
0.00002
|
|
NM_001267550.2(TTN):c.18720A>G (p.Arg6240=)
|
rs201395913
|
0.00002
|
|
NM_001267550.2(TTN):c.18777C>A (p.Thr6259=)
|
rs750180579
|
0.00002
|
|
NM_001267550.2(TTN):c.18869-16T>A
|
rs369915523
|
0.00002
|
|
NM_001267550.2(TTN):c.19158A>G (p.Gln6386=)
|
rs727504206
|
0.00002
|
|
NM_001267550.2(TTN):c.19263C>T (p.Asp6421=)
|
rs552531581
|
0.00002
|
|
NM_001267550.2(TTN):c.1939-18T>C
|
rs1295688480
|
0.00002
|
|
NM_001267550.2(TTN):c.1965C>T (p.Ala655=)
|
rs760757049
|
0.00002
|
|
NM_001267550.2(TTN):c.19715-12_19715-11del
|
rs748695304
|
0.00002
|
|
NM_001267550.2(TTN):c.19994-15T>G
|
rs556907769
|
0.00002
|
|
NM_001267550.2(TTN):c.19995A>T (p.Glu6665Asp)
|
rs146828735
|
0.00002
|
|
NM_001267550.2(TTN):c.20484C>T (p.Ile6828=)
|
rs563320328
|
0.00002
|
|
NM_001267550.2(TTN):c.20712A>C (p.Thr6904=)
|
rs377356011
|
0.00002
|
|
NM_001267550.2(TTN):c.2076+13G>A
|
rs778505099
|
0.00002
|
|
NM_001267550.2(TTN):c.20836+7A>G
|
rs923732569
|
0.00002
|
|
NM_001267550.2(TTN):c.21116-4A>G
|
rs375874660
|
0.00002
|
|
NM_001267550.2(TTN):c.2160T>G (p.Pro720=)
|
rs776860277
|
0.00002
|
|
NM_001267550.2(TTN):c.21615G>A (p.Gly7205=)
|
rs527850233
|
0.00002
|
|
NM_001267550.2(TTN):c.21962-15G>A
|
rs369307143
|
0.00002
|
|
NM_001267550.2(TTN):c.21966G>A (p.Pro7322=)
|
rs773546767
|
0.00002
|
|
NM_001267550.2(TTN):c.21980C>T (p.Thr7327Met)
|
rs727504975
|
0.00002
|
|
NM_001267550.2(TTN):c.2205C>T (p.Tyr735=)
|
rs1005406948
|
0.00002
|
|
NM_001267550.2(TTN):c.22240+3G>A
|
rs768904155
|
0.00002
|
|
NM_001267550.2(TTN):c.2301A>G (p.Arg767=)
|
rs746831560
|
0.00002
|
|
NM_001267550.2(TTN):c.23028C>T (p.Ser7676=)
|
rs199907920
|
0.00002
|
|
NM_001267550.2(TTN):c.23076C>T (p.Cys7692=)
|
rs769505705
|
0.00002
|
|
NM_001267550.2(TTN):c.23098+11C>A
|
rs780157047
|
0.00002
|
|
NM_001267550.2(TTN):c.23307C>T (p.Val7769=)
|
rs185860746
|
0.00002
|
|
NM_001267550.2(TTN):c.23391C>T (p.Phe7797=)
|
rs754815317
|
0.00002
|
|
NM_001267550.2(TTN):c.24039G>A (p.Pro8013=)
|
rs768390615
|
0.00002
|
|
NM_001267550.2(TTN):c.24139T>C (p.Leu8047=)
|
rs398124442
|
0.00002
|
|
NM_001267550.2(TTN):c.24168G>A (p.Thr8056=)
|
rs563766812
|
0.00002
|
|
NM_001267550.2(TTN):c.24227-17C>T
|
rs369163954
|
0.00002
|
|
NM_001267550.2(TTN):c.24609C>T (p.Ser8203=)
|
rs397517509
|
0.00002
|
|
NM_001267550.2(TTN):c.24708G>A (p.Glu8236=)
|
rs544114775
|
0.00002
|
|
NM_001267550.2(TTN):c.25041T>C (p.Ser8347=)
|
rs397517512
|
0.00002
|
|
NM_001267550.2(TTN):c.25077A>G (p.Pro8359=)
|
rs1306440265
|
0.00002
|
|
NM_001267550.2(TTN):c.25173G>A (p.Val8391=)
|
rs912662531
|
0.00002
|
|
NM_001267550.2(TTN):c.26169C>T (p.Ser8723=)
|
rs1304915212
|
0.00002
|
|
NM_001267550.2(TTN):c.26178C>T (p.Cys8726=)
|
rs1203865258
|
0.00002
|
|
NM_001267550.2(TTN):c.26370C>T (p.Asn8790=)
|
rs2077147894
|
0.00002
|
|
NM_001267550.2(TTN):c.26482+14T>C
|
rs748288198
|
0.00002
|
|
NM_001267550.2(TTN):c.26483-4C>T
|
rs762897454
|
0.00002
|
|
NM_001267550.2(TTN):c.26940T>A (p.Thr8980=)
|
rs1060503948
|
0.00002
|
|
NM_001267550.2(TTN):c.27123C>T (p.Ile9041=)
|
rs890920556
|
0.00002
|
|
NM_001267550.2(TTN):c.2727C>G (p.Thr909=)
|
rs1325237826
|
0.00002
|
|
NM_001267550.2(TTN):c.27285T>C (p.Asn9095=)
|
rs372827810
|
0.00002
|
|
NM_001267550.2(TTN):c.27886+17T>C
|
rs376389312
|
0.00002
|
|
NM_001267550.2(TTN):c.27887-10G>C
|
rs995921623
|
0.00002
|
|
NM_001267550.2(TTN):c.27947T>G (p.Leu9316Arg)
|
rs78643968
|
0.00002
|
|
NM_001267550.2(TTN):c.27993C>T (p.Ser9331=)
|
rs775636126
|
0.00002
|
|
NM_001267550.2(TTN):c.28175-10C>T
|
rs748478445
|
0.00002
|
|
NM_001267550.2(TTN):c.28275G>A (p.Pro9425=)
|
rs1448968221
|
0.00002
|
|
NM_001267550.2(TTN):c.28560C>G (p.Ser9520=)
|
rs768247809
|
0.00002
|
|
NM_001267550.2(TTN):c.2859T>C (p.Thr953=)
|
rs765848869
|
0.00002
|
|
NM_001267550.2(TTN):c.28754-11T>C
|
rs146738622
|
0.00002
|
|
NM_001267550.2(TTN):c.29041+14A>G
|
rs770212539
|
0.00002
|
|
NM_001267550.2(TTN):c.296-5C>T
|
rs374923808
|
0.00002
|
|
NM_001267550.2(TTN):c.29937C>T (p.Ile9979=)
|
rs878892843
|
0.00002
|
|
NM_001267550.2(TTN):c.30030C>T (p.Cys10010=)
|
rs372290430
|
0.00002
|
|
NM_001267550.2(TTN):c.3021G>A (p.Ala1007=)
|
rs147603843
|
0.00002
|
|
NM_001267550.2(TTN):c.30498C>T (p.Tyr10166=)
|
rs879007169
|
0.00002
|
|
NM_001267550.2(TTN):c.30570C>T (p.Thr10190=)
|
rs531598218
|
0.00002
|
|
NM_001267550.2(TTN):c.30588G>A (p.Val10196=)
|
rs727504524
|
0.00002
|
|
NM_001267550.2(TTN):c.3100+12C>T
|
rs372734752
|
0.00002
|
|
NM_001267550.2(TTN):c.31229C>T (p.Pro10410Leu)
|
rs781664961
|
0.00002
|
|
NM_001267550.2(TTN):c.31497G>A (p.Glu10499=)
|
rs780623097
|
0.00002
|
|
NM_001267550.2(TTN):c.31513+19T>C
|
rs375927041
|
0.00002
|
|
NM_001267550.2(TTN):c.31533A>G (p.Glu10511=)
|
rs757499228
|
0.00002
|
|
NM_001267550.2(TTN):c.31566T>A (p.Ile10522=)
|
rs200239159
|
0.00002
|
|
NM_001267550.2(TTN):c.31846+18G>A
|
rs528453275
|
0.00002
|
|
NM_001267550.2(TTN):c.32011+19C>T
|
rs754851582
|
0.00002
|
|
NM_001267550.2(TTN):c.32025T>C (p.Pro10675=)
|
rs369365087
|
0.00002
|
|
NM_001267550.2(TTN):c.32097T>C (p.Ala10699=)
|
rs756584941
|
0.00002
|
|
NM_001267550.2(TTN):c.32471-6C>T
|
rs763361422
|
0.00002
|
|
NM_001267550.2(TTN):c.32736G>A (p.Pro10912=)
|
rs368838709
|
0.00002
|
|
NM_001267550.2(TTN):c.32796A>C (p.Pro10932=)
|
rs1577373098
|
0.00002
|
|
NM_001267550.2(TTN):c.32808G>T (p.Val10936=)
|
rs794727109
|
0.00002
|
|
NM_001267550.2(TTN):c.33126C>T (p.Val11042=)
|
rs72650036
|
0.00002
|
|
NM_001267550.2(TTN):c.33165G>A (p.Pro11055=)
|
rs756152512
|
0.00002
|
|
NM_001267550.2(TTN):c.33654A>G (p.Pro11218=)
|
rs761294793
|
0.00002
|
|
NM_001267550.2(TTN):c.33657G>A (p.Pro11219=)
|
rs754038093
|
0.00002
|
|
NM_001267550.2(TTN):c.3380+12G>T
|
rs775071824
|
0.00002
|
|
NM_001267550.2(TTN):c.34026T>C (p.Pro11342=)
|
rs775256061
|
0.00002
|
|
NM_001267550.2(TTN):c.34230A>G (p.Glu11410=)
|
rs762363574
|
0.00002
|
|
NM_001267550.2(TTN):c.34293G>A (p.Val11431=)
|
rs1232810229
|
0.00002
|
|
NM_001267550.2(TTN):c.342C>T (p.Thr114=)
|
rs758521732
|
0.00002
|
|
NM_001267550.2(TTN):c.34787-10A>C
|
rs758317614
|
0.00002
|
|
NM_001267550.2(TTN):c.34787-5T>C
|
rs1488977812
|
0.00002
|
|
NM_001267550.2(TTN):c.34965C>T (p.Ala11655=)
|
rs996246602
|
0.00002
|
|
NM_001267550.2(TTN):c.35352T>A (p.Arg11784=)
|
rs1273061335
|
0.00002
|
|
NM_001267550.2(TTN):c.35577A>G (p.Glu11859=)
|
rs757426241
|
0.00002
|
|
NM_001267550.2(TTN):c.35797+16T>C
|
rs1407065940
|
0.00002
|
|
NM_001267550.2(TTN):c.36202+10G>T
|
rs765321861
|
0.00002
|
|
NM_001267550.2(TTN):c.36281-13A>T
|
rs751095834
|
0.00002
|
|
NM_001267550.2(TTN):c.36532+13G>A
|
rs758624046
|
0.00002
|
|
NM_001267550.2(TTN):c.36861C>A (p.Ala12287=)
|
rs1191492128
|
0.00002
|
|
NM_001267550.2(TTN):c.36948C>T (p.Pro12316=)
|
rs1418267533
|
0.00002
|
|
NM_001267550.2(TTN):c.3708C>T (p.Val1236=)
|
rs774509972
|
0.00002
|
|
NM_001267550.2(TTN):c.3730-7T>C
|
rs769998916
|
0.00002
|
|
NM_001267550.2(TTN):c.37369+10C>A
|
rs1286420676
|
0.00002
|
|
NM_001267550.2(TTN):c.37369+7A>G
|
rs1191484892
|
0.00002
|
|
NM_001267550.2(TTN):c.37509T>A (p.Pro12503=)
|
rs1263039680
|
0.00002
|
|
NM_001267550.2(TTN):c.37734C>T (p.Ala12578=)
|
rs1280095100
|
0.00002
|
|
NM_001267550.2(TTN):c.3777A>G (p.Glu1259=)
|
rs755728462
|
0.00002
|
|
NM_001267550.2(TTN):c.38607A>G (p.Pro12869=)
|
rs1413566405
|
0.00002
|
|
NM_001267550.2(TTN):c.38781A>T (p.Pro12927=)
|
rs1331371841
|
0.00002
|
|
NM_001267550.2(TTN):c.38959+8T>G
|
rs769254204
|
0.00002
|
|
NM_001267550.2(TTN):c.38961A>G (p.Val12987=)
|
rs552745605
|
0.00002
|
|
NM_001267550.2(TTN):c.3900T>C (p.Tyr1300=)
|
rs545493849
|
0.00002
|
|
NM_001267550.2(TTN):c.39099T>C (p.Pro13033=)
|
rs755793186
|
0.00002
|
|
NM_001267550.2(TTN):c.39212-20A>C
|
rs773593473
|
0.00002
|
|
NM_001267550.2(TTN):c.39504G>T (p.Val13168=)
|
rs397517558
|
0.00002
|
|
NM_001267550.2(TTN):c.3963+13C>T
|
rs772650637
|
0.00002
|
|
NM_001267550.2(TTN):c.39786A>G (p.Glu13262=)
|
rs398124450
|
0.00002
|
|
NM_001267550.2(TTN):c.39973+16T>C
|
rs1203640038
|
0.00002
|
|
NM_001267550.2(TTN):c.40222+20T>C
|
rs1210415232
|
0.00002
|
|
NM_001267550.2(TTN):c.40329A>G (p.Pro13443=)
|
rs955735941
|
0.00002
|
|
NM_001267550.2(TTN):c.40335C>T (p.Leu13445=)
|
rs727504696
|
0.00002
|
|
NM_001267550.2(TTN):c.40559-4A>G
|
rs202087936
|
0.00002
|
|
NM_001267550.2(TTN):c.40787-19A>G
|
rs749631373
|
0.00002
|
|
NM_001267550.2(TTN):c.4086C>T (p.Tyr1362=)
|
rs776328283
|
0.00002
|
|
NM_001267550.2(TTN):c.40877-18G>A
|
rs770295958
|
0.00002
|
|
NM_001267550.2(TTN):c.40989T>C (p.Ser13663=)
|
rs369178648
|
0.00002
|
|
NM_001267550.2(TTN):c.41427C>T (p.Asp13809=)
|
rs776002330
|
0.00002
|
|
NM_001267550.2(TTN):c.41493T>C (p.Ile13831=)
|
rs1392762218
|
0.00002
|
|
NM_001267550.2(TTN):c.41885-18C>T
|
rs760942111
|
0.00002
|
|
NM_001267550.2(TTN):c.4209-9G>T
|
rs1356088079
|
0.00002
|
|
NM_001267550.2(TTN):c.42564C>T (p.Leu14188=)
|
rs767538049
|
0.00002
|
|
NM_001267550.2(TTN):c.42687C>T (p.Ala14229=)
|
rs775889693
|
0.00002
|
|
NM_001267550.2(TTN):c.4275A>G (p.Ala1425=)
|
rs749859784
|
0.00002
|
|
NM_001267550.2(TTN):c.42933T>C (p.Asn14311=)
|
rs148528251
|
0.00002
|
|
NM_001267550.2(TTN):c.43056G>A (p.Lys14352=)
|
rs780283171
|
0.00002
|
|
NM_001267550.2(TTN):c.43068G>A (p.Gln14356=)
|
rs758915068
|
0.00002
|
|
NM_001267550.2(TTN):c.43480+7A>G
|
rs775993390
|
0.00002
|
|
NM_001267550.2(TTN):c.4362A>G (p.Leu1454=)
|
rs794727406
|
0.00002
|
|
NM_001267550.2(TTN):c.43653T>C (p.His14551=)
|
rs768244114
|
0.00002
|
|
NM_001267550.2(TTN):c.43656G>A (p.Ser14552=)
|
rs376851369
|
0.00002
|
|
NM_001267550.2(TTN):c.44157T>C (p.Asp14719=)
|
rs760908766
|
0.00002
|
|
NM_001267550.2(TTN):c.44232G>A (p.Val14744=)
|
rs1179961916
|
0.00002
|
|
NM_001267550.2(TTN):c.44304G>A (p.Arg14768=)
|
rs376076719
|
0.00002
|
|
NM_001267550.2(TTN):c.44425-13T>A
|
rs565739809
|
0.00002
|
|
NM_001267550.2(TTN):c.44472T>C (p.Asp14824=)
|
rs377441854
|
0.00002
|
|
NM_001267550.2(TTN):c.44816-9C>A
|
rs760060837
|
0.00002
|
|
NM_001267550.2(TTN):c.45498C>T (p.Asp15166=)
|
rs752554634
|
0.00002
|
|
NM_001267550.2(TTN):c.46047C>T (p.Tyr15349=)
|
rs762831355
|
0.00002
|
|
NM_001267550.2(TTN):c.46580T>A (p.Met15527Lys)
|
rs77496539
|
0.00002
|
|
NM_001267550.2(TTN):c.46697-12C>T
|
rs727504699
|
0.00002
|
|
NM_001267550.2(TTN):c.46983A>G (p.Val15661=)
|
rs766369811
|
0.00002
|
|
NM_001267550.2(TTN):c.47292T>C (p.Asn15764=)
|
rs763477743
|
0.00002
|
|
NM_001267550.2(TTN):c.47676A>G (p.Leu15892=)
|
rs761412068
|
0.00002
|
|
NM_001267550.2(TTN):c.47712T>C (p.Asp15904=)
|
rs1397706325
|
0.00002
|
|
NM_001267550.2(TTN):c.47766C>T (p.Thr15922=)
|
rs757006832
|
0.00002
|
|
NM_001267550.2(TTN):c.48102A>G (p.Thr16034=)
|
rs775753109
|
0.00002
|
|
NM_001267550.2(TTN):c.48210C>T (p.Asp16070=)
|
rs1004375786
|
0.00002
|
|
NM_001267550.2(TTN):c.48213A>C (p.Ser16071=)
|
rs763351197
|
0.00002
|
|
NM_001267550.2(TTN):c.48432T>C (p.Asp16144=)
|
rs776643336
|
0.00002
|
|
NM_001267550.2(TTN):c.48591T>C (p.Arg16197=)
|
rs755584586
|
0.00002
|
|
NM_001267550.2(TTN):c.48654T>A (p.Gly16218=)
|
rs1258062795
|
0.00002
|
|
NM_001267550.2(TTN):c.48684C>T (p.Arg16228=)
|
rs529418633
|
0.00002
|
|
NM_001267550.2(TTN):c.49041C>T (p.Asn16347=)
|
rs369981635
|
0.00002
|
|
NM_001267550.2(TTN):c.49461T>A (p.Val16487=)
|
rs377080500
|
0.00002
|
|
NM_001267550.2(TTN):c.49649-14T>G
|
rs531475231
|
0.00002
|
|
NM_001267550.2(TTN):c.50484T>C (p.Ala16828=)
|
rs376278734
|
0.00002
|
|
NM_001267550.2(TTN):c.51378G>A (p.Lys17126=)
|
rs560889721
|
0.00002
|
|
NM_001267550.2(TTN):c.51681C>T (p.Ala17227=)
|
rs367779216
|
0.00002
|
|
NM_001267550.2(TTN):c.52449C>T (p.Thr17483=)
|
rs374894182
|
0.00002
|
|
NM_001267550.2(TTN):c.52557C>T (p.Val17519=)
|
rs397517610
|
0.00002
|
|
NM_001267550.2(TTN):c.53261T>C (p.Phe17754Ser)
|
rs749312983
|
0.00002
|
|
NM_001267550.2(TTN):c.53592A>G (p.Thr17864=)
|
rs397517613
|
0.00002
|
|
NM_001267550.2(TTN):c.5373C>A (p.Thr1791=)
|
rs727503693
|
0.00002
|
|
NM_001267550.2(TTN):c.53882-11T>C
|
rs533844520
|
0.00002
|
|
NM_001267550.2(TTN):c.53904T>C (p.Arg17968=)
|
rs568053342
|
0.00002
|
|
NM_001267550.2(TTN):c.54201C>T (p.Ser18067=)
|
rs397517618
|
0.00002
|
|
NM_001267550.2(TTN):c.55278T>C (p.Val18426=)
|
rs368013796
|
0.00002
|
|
NM_001267550.2(TTN):c.55303-4A>G
|
rs1191310144
|
0.00002
|
|
NM_001267550.2(TTN):c.55308G>A (p.Glu18436=)
|
rs768579637
|
0.00002
|
|
NM_001267550.2(TTN):c.5559T>G (p.Leu1853=)
|
rs1397358651
|
0.00002
|
|
NM_001267550.2(TTN):c.5583C>T (p.Arg1861=)
|
rs368972275
|
0.00002
|
|
NM_001267550.2(TTN):c.55884A>G (p.Lys18628=)
|
rs776653880
|
0.00002
|
|
NM_001267550.2(TTN):c.56178T>A (p.Pro18726=)
|
rs767060880
|
0.00002
|
|
NM_001267550.2(TTN):c.56347+8C>T
|
rs751081259
|
0.00002
|
|
NM_001267550.2(TTN):c.56451T>C (p.Ile18817=)
|
rs773632666
|
0.00002
|
|
NM_001267550.2(TTN):c.5712A>C (p.Ser1904=)
|
rs1011696809
|
0.00002
|
|
NM_001267550.2(TTN):c.57369C>T (p.Thr19123=)
|
rs199742163
|
0.00002
|
|
NM_001267550.2(TTN):c.57438A>G (p.Ser19146=)
|
rs200636917
|
0.00002
|
|
NM_001267550.2(TTN):c.574C>T (p.Leu192=)
|
rs767983460
|
0.00002
|
|
NM_001267550.2(TTN):c.57717C>T (p.Thr19239=)
|
rs376023700
|
0.00002
|
|
NM_001267550.2(TTN):c.57816A>G (p.Thr19272=)
|
rs928567222
|
0.00002
|
|
NM_001267550.2(TTN):c.58150+10T>C
|
rs397517635
|
0.00002
|
|
NM_001267550.2(TTN):c.58161G>A (p.Thr19387=)
|
rs758252986
|
0.00002
|
|
NM_001267550.2(TTN):c.58284G>A (p.Leu19428=)
|
rs1458134212
|
0.00002
|
|
NM_001267550.2(TTN):c.58293T>C (p.Asp19431=)
|
rs878977261
|
0.00002
|
|
NM_001267550.2(TTN):c.58395A>G (p.Thr19465=)
|
rs375134177
|
0.00002
|
|
NM_001267550.2(TTN):c.58428T>C (p.Val19476=)
|
rs767067804
|
0.00002
|
|
NM_001267550.2(TTN):c.58676T>A (p.Leu19559Gln)
|
rs76604657
|
0.00002
|
|
NM_001267550.2(TTN):c.58733-9T>C
|
rs537433393
|
0.00002
|
|
NM_001267550.2(TTN):c.5892G>T (p.Val1964=)
|
rs752730793
|
0.00002
|
|
NM_001267550.2(TTN):c.59036-14C>A
|
rs563870758
|
0.00002
|
|
NM_001267550.2(TTN):c.59178G>A (p.Glu19726=)
|
rs1360470913
|
0.00002
|
|
NM_001267550.2(TTN):c.59247C>T (p.Asp19749=)
|
rs587780491
|
0.00002
|
|
NM_001267550.2(TTN):c.59634T>C (p.Pro19878=)
|
rs529488909
|
0.00002
|
|
NM_001267550.2(TTN):c.59763C>T (p.Ser19921=)
|
rs1161679210
|
0.00002
|
|
NM_001267550.2(TTN):c.59927-11T>A
|
rs555554134
|
0.00002
|
|
NM_001267550.2(TTN):c.59937G>A (p.Gly19979=)
|
rs727505101
|
0.00002
|
|
NM_001267550.2(TTN):c.60003G>A (p.Pro20001=)
|
rs753118050
|
0.00002
|
|
NM_001267550.2(TTN):c.60261T>C (p.Gly20087=)
|
rs777188146
|
0.00002
|
|
NM_001267550.2(TTN):c.60381T>A (p.Val20127=)
|
rs570215155
|
0.00002
|
|
NM_001267550.2(TTN):c.60999T>C (p.Thr20333=)
|
rs746358853
|
0.00002
|
|
NM_001267550.2(TTN):c.61977C>T (p.Pro20659=)
|
rs763560548
|
0.00002
|
|
NM_001267550.2(TTN):c.62766T>C (p.Gly20922=)
|
rs752423017
|
0.00002
|
|
NM_001267550.2(TTN):c.62970T>C (p.Asp20990=)
|
rs764520176
|
0.00002
|
|
NM_001267550.2(TTN):c.63187+8G>A
|
rs727503584
|
0.00002
|
|
NM_001267550.2(TTN):c.63285G>A (p.Pro21095=)
|
rs760168563
|
0.00002
|
|
NM_001267550.2(TTN):c.63432G>A (p.Arg21144=)
|
rs776520284
|
0.00002
|
|
NM_001267550.2(TTN):c.63558G>A (p.Val21186=)
|
rs200261892
|
0.00002
|
|
NM_001267550.2(TTN):c.63711C>A (p.Thr21237=)
|
rs763404962
|
0.00002
|
|
NM_001267550.2(TTN):c.63793+9del
|
rs771033923
|
0.00002
|
|
NM_001267550.2(TTN):c.63794-15T>C
|
rs762325051
|
0.00002
|
|
NM_001267550.2(TTN):c.63819A>G (p.Leu21273=)
|
rs944964747
|
0.00002
|
|
NM_001267550.2(TTN):c.64023T>C (p.Thr21341=)
|
rs747104609
|
0.00002
|
|
NM_001267550.2(TTN):c.64101G>A (p.Pro21367=)
|
rs397517657
|
0.00002
|
|
NM_001267550.2(TTN):c.64338T>C (p.Ala21446=)
|
rs371514555
|
0.00002
|
|
NM_001267550.2(TTN):c.64356A>G (p.Pro21452=)
|
rs1431828617
|
0.00002
|
|
NM_001267550.2(TTN):c.6508+15T>C
|
rs747722195
|
0.00002
|
|
NM_001267550.2(TTN):c.65280T>C (p.Pro21760=)
|
rs374177732
|
0.00002
|
|
NM_001267550.2(TTN):c.65319T>C (p.Thr21773=)
|
rs746956869
|
0.00002
|
|
NM_001267550.2(TTN):c.65448G>A (p.Gln21816=)
|
rs755563232
|
0.00002
|
|
NM_001267550.2(TTN):c.65457C>T (p.Tyr21819=)
|
rs529491333
|
0.00002
|
|
NM_001267550.2(TTN):c.65586G>A (p.Arg21862=)
|
rs766306603
|
0.00002
|
|
NM_001267550.2(TTN):c.65595G>T (p.Leu21865=)
|
rs879236471
|
0.00002
|
|
NM_001267550.2(TTN):c.65700T>C (p.Asp21900=)
|
rs772440358
|
0.00002
|
|
NM_001267550.2(TTN):c.66240A>C (p.Ala22080=)
|
rs375181938
|
0.00002
|
|
NM_001267550.2(TTN):c.66349G>A (p.Ala22117Thr)
|
rs727505036
|
0.00002
|
|
NM_001267550.2(TTN):c.66372C>T (p.Thr22124=)
|
rs756981729
|
0.00002
|
|
NM_001267550.2(TTN):c.66386G>A (p.Arg22129His)
|
rs187257105
|
0.00002
|
|
NM_001267550.2(TTN):c.66411A>C (p.Gly22137=)
|
rs1270361185
|
0.00002
|
|
NM_001267550.2(TTN):c.66463+13G>T
|
rs749690571
|
0.00002
|
|
NM_001267550.2(TTN):c.66464-15A>G
|
rs769254613
|
0.00002
|
|
NM_001267550.2(TTN):c.66600C>T (p.Ser22200=)
|
rs371324060
|
0.00002
|
|
NM_001267550.2(TTN):c.67146C>T (p.Gly22382=)
|
rs770418172
|
0.00002
|
|
NM_001267550.2(TTN):c.67444C>T (p.Arg22482Trp)
|
rs563233842
|
0.00002
|
|
NM_001267550.2(TTN):c.67731G>A (p.Lys22577=)
|
rs1459363772
|
0.00002
|
|
NM_001267550.2(TTN):c.67737T>G (p.Ala22579=)
|
rs765975995
|
0.00002
|
|
NM_001267550.2(TTN):c.68802C>T (p.Thr22934=)
|
rs767646059
|
0.00002
|
|
NM_001267550.2(TTN):c.68850C>A (p.Pro22950=)
|
rs762272798
|
0.00002
|
|
NM_001267550.2(TTN):c.69042T>C (p.Asp23014=)
|
rs750181550
|
0.00002
|
|
NM_001267550.2(TTN):c.69084G>A (p.Thr23028=)
|
rs757132910
|
0.00002
|
|
NM_001267550.2(TTN):c.69120A>G (p.Val23040=)
|
rs754349287
|
0.00002
|
|
NM_001267550.2(TTN):c.69193T>C (p.Leu23065=)
|
rs776735247
|
0.00002
|
|
NM_001267550.2(TTN):c.69204C>A (p.Gly23068=)
|
rs188919648
|
0.00002
|
|
NM_001267550.2(TTN):c.69327G>A (p.Glu23109=)
|
rs374187062
|
0.00002
|
|
NM_001267550.2(TTN):c.69378A>G (p.Val23126=)
|
rs1439049717
|
0.00002
|
|
NM_001267550.2(TTN):c.69393C>T (p.Val23131=)
|
rs727504692
|
0.00002
|
|
NM_001267550.2(TTN):c.6942T>C (p.Ile2314=)
|
rs762511156
|
0.00002
|
|
NM_001267550.2(TTN):c.6945A>G (p.Thr2315=)
|
rs879103814
|
0.00002
|
|
NM_001267550.2(TTN):c.69501T>C (p.Gly23167=)
|
rs906660924
|
0.00002
|
|
NM_001267550.2(TTN):c.69828C>T (p.Val23276=)
|
rs55659506
|
0.00002
|
|
NM_001267550.2(TTN):c.69852C>T (p.Asp23284=)
|
rs760049838
|
0.00002
|
|
NM_001267550.2(TTN):c.69882C>T (p.Thr23294=)
|
rs376056197
|
0.00002
|
|
NM_001267550.2(TTN):c.69960C>T (p.Asn23320=)
|
rs752969136
|
0.00002
|
|
NM_001267550.2(TTN):c.70257C>T (p.Asn23419=)
|
rs374496130
|
0.00002
|
|
NM_001267550.2(TTN):c.70287C>T (p.Asn23429=)
|
rs757831376
|
0.00002
|
|
NM_001267550.2(TTN):c.70983G>A (p.Pro23661=)
|
rs568193318
|
0.00002
|
|
NM_001267550.2(TTN):c.71259C>T (p.Asn23753=)
|
rs367685557
|
0.00002
|
|
NM_001267550.2(TTN):c.71769T>C (p.Asp23923=)
|
rs770323152
|
0.00002
|
|
NM_001267550.2(TTN):c.72048T>C (p.Asp24016=)
|
rs1470895952
|
0.00002
|
|
NM_001267550.2(TTN):c.72424C>T (p.Leu24142=)
|
rs1178099292
|
0.00002
|
|
NM_001267550.2(TTN):c.72471T>C (p.His24157=)
|
rs188558683
|
0.00002
|
|
NM_001267550.2(TTN):c.72675G>A (p.Pro24225=)
|
rs374314698
|
0.00002
|
|
NM_001267550.2(TTN):c.73146T>A (p.Thr24382=)
|
rs372092427
|
0.00002
|
|
NM_001267550.2(TTN):c.732C>T (p.Ala244=)
|
rs761859812
|
0.00002
|
|
NM_001267550.2(TTN):c.7331-11T>C
|
rs1198109375
|
0.00002
|
|
NM_001267550.2(TTN):c.7331-16G>T
|
rs372580840
|
0.00002
|
|
NM_001267550.2(TTN):c.73368T>C (p.Pro24456=)
|
rs373361363
|
0.00002
|
|
NM_001267550.2(TTN):c.7383G>A (p.Lys2461=)
|
rs752865519
|
0.00002
|
|
NM_001267550.2(TTN):c.73896T>C (p.Ser24632=)
|
rs553251216
|
0.00002
|
|
NM_001267550.2(TTN):c.7392T>C (p.Leu2464=)
|
rs565784637
|
0.00002
|
|
NM_001267550.2(TTN):c.73995G>A (p.Thr24665=)
|
rs369122344
|
0.00002
|
|
NM_001267550.2(TTN):c.74292A>G (p.Ala24764=)
|
rs1005955398
|
0.00002
|
|
NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly)
|
rs573415766
|
0.00002
|
|
NM_001267550.2(TTN):c.74556C>G (p.Ser24852=)
|
rs553463282
|
0.00002
|
|
NM_001267550.2(TTN):c.75003T>C (p.Tyr25001=)
|
rs565568843
|
0.00002
|
|
NM_001267550.2(TTN):c.7524T>C (p.His2508=)
|
rs2291307
|
0.00002
|
|
NM_001267550.2(TTN):c.75531C>T (p.Val25177=)
|
rs748541133
|
0.00002
|
|
NM_001267550.2(TTN):c.76017T>C (p.Tyr25339=)
|
rs1057523937
|
0.00002
|
|
NM_001267550.2(TTN):c.76482C>T (p.Asp25494=)
|
rs370908118
|
0.00002
|
|
NM_001267550.2(TTN):c.76740G>A (p.Thr25580=)
|
rs555978535
|
0.00002
|
|
NM_001267550.2(TTN):c.76845A>G (p.Lys25615=)
|
rs1182976097
|
0.00002
|
|
NM_001267550.2(TTN):c.77622T>C (p.Asn25874=)
|
rs766227814
|
0.00002
|
|
NM_001267550.2(TTN):c.77799A>T (p.Thr25933=)
|
rs727505210
|
0.00002
|
|
NM_001267550.2(TTN):c.79545C>T (p.Gly26515=)
|
rs761713195
|
0.00002
|
|
NM_001267550.2(TTN):c.79788C>T (p.Ser26596=)
|
rs777989882
|
0.00002
|
|
NM_001267550.2(TTN):c.80868T>C (p.Asn26956=)
|
rs780749635
|
0.00002
|
|
NM_001267550.2(TTN):c.80898T>C (p.Ser26966=)
|
rs374042845
|
0.00002
|
|
NM_001267550.2(TTN):c.80949T>C (p.Asp26983=)
|
rs775115560
|
0.00002
|
|
NM_001267550.2(TTN):c.80988T>C (p.Pro26996=)
|
rs777655527
|
0.00002
|
|
NM_001267550.2(TTN):c.80997T>C (p.Tyr26999=)
|
rs753036492
|
0.00002
|
|
NM_001267550.2(TTN):c.81297T>C (p.Asp27099=)
|
rs727505134
|
0.00002
|
|
NM_001267550.2(TTN):c.81483G>A (p.Val27161=)
|
rs776676417
|
0.00002
|
|
NM_001267550.2(TTN):c.81858T>C (p.Val27286=)
|
rs727503558
|
0.00002
|
|
NM_001267550.2(TTN):c.82152G>A (p.Ala27384=)
|
rs771905375
|
0.00002
|
|
NM_001267550.2(TTN):c.82551C>G (p.Thr27517=)
|
rs373634657
|
0.00002
|
|
NM_001267550.2(TTN):c.84066T>C (p.Ile28022=)
|
rs781111844
|
0.00002
|
|
NM_001267550.2(TTN):c.84405T>C (p.Tyr28135=)
|
rs756176112
|
0.00002
|
|
NM_001267550.2(TTN):c.84633T>C (p.Asp28211=)
|
rs1211159517
|
0.00002
|
|
NM_001267550.2(TTN):c.84651C>T (p.Ser28217=)
|
rs377667809
|
0.00002
|
|
NM_001267550.2(TTN):c.84945T>A (p.Thr28315=)
|
rs768116404
|
0.00002
|
|
NM_001267550.2(TTN):c.85284T>C (p.Tyr28428=)
|
rs755188195
|
0.00002
|
|
NM_001267550.2(TTN):c.85421G>A (p.Arg28474His)
|
rs754356257
|
0.00002
|
|
NM_001267550.2(TTN):c.85665G>A (p.Thr28555=)
|
rs376611533
|
0.00002
|
|
NM_001267550.2(TTN):c.85917C>G (p.Thr28639=)
|
rs761845217
|
0.00002
|
|
NM_001267550.2(TTN):c.86190G>A (p.Lys28730=)
|
rs771413979
|
0.00002
|
|
NM_001267550.2(TTN):c.86289C>T (p.Thr28763=)
|
rs369221174
|
0.00002
|
|
NM_001267550.2(TTN):c.86589G>A (p.Val28863=)
|
rs746386371
|
0.00002
|
|
NM_001267550.2(TTN):c.86613C>T (p.Asn28871=)
|
rs778096530
|
0.00002
|
|
NM_001267550.2(TTN):c.86703C>T (p.Arg28901=)
|
rs1318186702
|
0.00002
|
|
NM_001267550.2(TTN):c.86982G>A (p.Val28994=)
|
rs748139282
|
0.00002
|
|
NM_001267550.2(TTN):c.87102T>A (p.Leu29034=)
|
rs781200259
|
0.00002
|
|
NM_001267550.2(TTN):c.87360C>T (p.Ala29120=)
|
rs759442901
|
0.00002
|
|
NM_001267550.2(TTN):c.87804A>G (p.Ala29268=)
|
rs1411999290
|
0.00002
|
|
NM_001267550.2(TTN):c.88009+17G>T
|
rs886924383
|
0.00002
|
|
NM_001267550.2(TTN):c.88725G>A (p.Glu29575=)
|
rs771658919
|
0.00002
|
|
NM_001267550.2(TTN):c.88734C>T (p.Arg29578=)
|
rs749107962
|
0.00002
|
|
NM_001267550.2(TTN):c.89184T>C (p.Ala29728=)
|
rs776935505
|
0.00002
|
|
NM_001267550.2(TTN):c.89220G>A (p.Lys29740=)
|
rs1470927227
|
0.00002
|
|
NM_001267550.2(TTN):c.89568T>C (p.Asp29856=)
|
rs759394282
|
0.00002
|
|
NM_001267550.2(TTN):c.8991C>A (p.Ile2997=)
|
rs757524187
|
0.00002
|
|
NM_001267550.2(TTN):c.90228G>A (p.Thr30076=)
|
rs778516869
|
0.00002
|
|
NM_001267550.2(TTN):c.90405T>C (p.Asp30135=)
|
rs371945826
|
0.00002
|
|
NM_001267550.2(TTN):c.90915C>T (p.Tyr30305=)
|
rs748302876
|
0.00002
|
|
NM_001267550.2(TTN):c.91+14T>C
|
rs397517777
|
0.00002
|
|
NM_001267550.2(TTN):c.91326A>G (p.Lys30442=)
|
rs367777281
|
0.00002
|
|
NM_001267550.2(TTN):c.91483A>C (p.Arg30495=)
|
rs200081879
|
0.00002
|
|
NM_001267550.2(TTN):c.92004A>G (p.Ala30668=)
|
rs780693632
|
0.00002
|
|
NM_001267550.2(TTN):c.92052A>G (p.Leu30684=)
|
rs764401165
|
0.00002
|
|
NM_001267550.2(TTN):c.92152+10C>T
|
rs376007682
|
0.00002
|
|
NM_001267550.2(TTN):c.92454C>T (p.Pro30818=)
|
rs771773845
|
0.00002
|
|
NM_001267550.2(TTN):c.9267G>A (p.Gln3089=)
|
rs764189986
|
0.00002
|
|
NM_001267550.2(TTN):c.9306-4A>G
|
rs757164431
|
0.00002
|
|
NM_001267550.2(TTN):c.93474C>T (p.Asp31158=)
|
rs750803038
|
0.00002
|
|
NM_001267550.2(TTN):c.93975G>A (p.Ser31325=)
|
rs752470969
|
0.00002
|
|
NM_001267550.2(TTN):c.94220-14T>C
|
rs775938480
|
0.00002
|
|
NM_001267550.2(TTN):c.94674G>A (p.Lys31558=)
|
rs1296046782
|
0.00002
|
|
NM_001267550.2(TTN):c.94899T>C (p.Leu31633=)
|
rs1429633152
|
0.00002
|
|
NM_001267550.2(TTN):c.95067A>G (p.Thr31689=)
|
rs879149440
|
0.00002
|
|
NM_001267550.2(TTN):c.95119+8T>C
|
rs778245729
|
0.00002
|
|
NM_001267550.2(TTN):c.95409C>T (p.Asn31803=)
|
rs727505040
|
0.00002
|
|
NM_001267550.2(TTN):c.95526C>T (p.Tyr31842=)
|
rs374280166
|
0.00002
|
|
NM_001267550.2(TTN):c.95550G>A (p.Lys31850=)
|
rs775609788
|
0.00002
|
|
NM_001267550.2(TTN):c.95559C>A (p.Arg31853=)
|
rs764204332
|
0.00002
|
|
NM_001267550.2(TTN):c.95586G>A (p.Val31862=)
|
rs566183763
|
0.00002
|
|
NM_001267550.2(TTN):c.95805C>T (p.Tyr31935=)
|
rs375076970
|
0.00002
|
|
NM_001267550.2(TTN):c.95877G>A (p.Val31959=)
|
rs373041862
|
0.00002
|
|
NM_001267550.2(TTN):c.9591A>G (p.Val3197=)
|
rs757657812
|
0.00002
|
|
NM_001267550.2(TTN):c.95967C>T (p.Asn31989=)
|
rs775762346
|
0.00002
|
|
NM_001267550.2(TTN):c.96030A>G (p.Glu32010=)
|
rs144101806
|
0.00002
|
|
NM_001267550.2(TTN):c.96420C>T (p.Tyr32140=)
|
rs1009407656
|
0.00002
|
|
NM_001267550.2(TTN):c.97242T>C (p.Ala32414=)
|
rs776580922
|
0.00002
|
|
NM_001267550.2(TTN):c.97395C>T (p.Thr32465=)
|
rs755328785
|
0.00002
|
|
NM_001267550.2(TTN):c.97746T>C (p.Ser32582=)
|
rs757966948
|
0.00002
|
|
NM_001267550.2(TTN):c.98680T>C (p.Leu32894=)
|
rs776366085
|
0.00002
|
|
NM_001267550.2(TTN):c.98684-12T>C
|
rs752771741
|
0.00002
|
|
NM_001267550.2(TTN):c.98952C>T (p.Ser32984=)
|
rs377071916
|
0.00002
|
|
NM_001267550.2(TTN):c.99231T>C (p.Asn33077=)
|
rs774379550
|
0.00002
|
|
NM_001267550.2(TTN):c.99289+12T>G
|
rs754663367
|
0.00002
|
|
NM_001267550.2(TTN):c.99921C>T (p.Ser33307=)
|
rs779347462
|
0.00002
|
|
NM_001267550.2(TTN):c.99945C>T (p.Pro33315=)
|
rs751111629
|
0.00002
|
|
NM_001276345.2(TNNT2):c.282A>G (p.Arg94=)
|
rs397516453
|
0.00002
|
|
NM_001276345.2(TNNT2):c.295-13G>A
|
rs764804961
|
0.00002
|
|
NM_001276345.2(TNNT2):c.391G>A (p.Val131Ile)
|
rs537067344
|
0.00002
|
|
NM_001276345.2(TNNT2):c.519G>A (p.Glu173=)
|
rs928898709
|
0.00002
|
|
NM_001276345.2(TNNT2):c.610-15T>A
|
rs950076691
|
0.00002
|
|
NM_001276345.2(TNNT2):c.63T>G (p.Val21=)
|
rs397516477
|
0.00002
|
|
NM_001276345.2(TNNT2):c.67+9C>T
|
rs201839711
|
0.00002
|
|
NM_001276345.2(TNNT2):c.720-6G>A
|
rs113471285
|
0.00002
|
|
NM_001276345.2(TNNT2):c.84A>G (p.Arg28=)
|
rs370895664
|
0.00002
|
|
NM_001276345.2(TNNT2):c.98-14C>T
|
rs918945214
|
0.00002
|
|
NM_001289808.2(CRYAB):c.126T>G (p.Thr42=)
|
rs781882384
|
0.00002
|
|
NM_001289808.2(CRYAB):c.174C>A (p.Pro58=)
|
rs782151852
|
0.00002
|
|
NM_001289808.2(CRYAB):c.369G>T (p.Arg123=)
|
rs1274021536
|
0.00002
|
|
NM_001289808.2(CRYAB):c.504T>C (p.Ala168=)
|
rs782361571
|
0.00002
|
|
NM_001289808.2(CRYAB):c.516C>A (p.Ala172=)
|
rs143500486
|
0.00002
|
|
NM_001318895.3(FHL2):c.186T>C (p.His62=)
|
rs1462640060
|
0.00002
|
|
NM_001318895.3(FHL2):c.502-16C>T
|
rs1278363053
|
0.00002
|
|
NM_001318895.3(FHL2):c.651T>C (p.Tyr217=)
|
rs1045935903
|
0.00002
|
|
NM_001318895.3(FHL2):c.688+7G>A
|
rs768230517
|
0.00002
|
|
NM_001318895.3(FHL2):c.720G>A (p.Glu240=)
|
rs777732229
|
0.00002
|
|
NM_001386795.1(DTNA):c.1002-2338C>T
|
rs201631418
|
0.00002
|
|
NM_001386795.1(DTNA):c.1776C>T (p.Pro592=)
|
rs113072494
|
0.00002
|
|
NM_001386795.1(DTNA):c.1851G>A (p.Pro617=)
|
rs756382217
|
0.00002
|
|
NM_001386795.1(DTNA):c.1993+11G>T
|
rs540652495
|
0.00002
|
|
NM_001386795.1(DTNA):c.1993+9C>T
|
rs573243965
|
0.00002
|
|
NM_001386795.1(DTNA):c.1994-18T>A
|
rs772589214
|
0.00002
|
|
NM_001386795.1(DTNA):c.2094G>A (p.Ala698=)
|
rs369914309
|
0.00002
|
|
NM_001386795.1(DTNA):c.354G>A (p.Ala118=)
|
rs748607011
|
0.00002
|
|
NM_001386795.1(DTNA):c.362+18G>A
|
rs771172339
|
0.00002
|
|
NM_001386795.1(DTNA):c.362+9C>T
|
rs778158771
|
0.00002
|
|
NM_001458.5(FLNC):c.1141C>T (p.Arg381Cys)
|
rs770692923
|
0.00002
|
|
NM_001458.5(FLNC):c.1215C>T (p.Ala405=)
|
rs749510534
|
0.00002
|
|
NM_001458.5(FLNC):c.1227T>C (p.Asp409=)
|
rs375033262
|
0.00002
|
|
NM_001458.5(FLNC):c.1258C>T (p.Arg420Trp)
|
rs766755439
|
0.00002
|
|
NM_001458.5(FLNC):c.1260G>A (p.Arg420=)
|
rs759951101
|
0.00002
|
|
NM_001458.5(FLNC):c.1372C>T (p.Pro458Ser)
|
rs369747694
|
0.00002
|
|
NM_001458.5(FLNC):c.1617G>A (p.Pro539=)
|
rs369222964
|
0.00002
|
|
NM_001458.5(FLNC):c.1641G>C (p.Val547=)
|
rs202142168
|
0.00002
|
|
NM_001458.5(FLNC):c.174C>G (p.Thr58=)
|
rs763488290
|
0.00002
|
|
NM_001458.5(FLNC):c.1809A>G (p.Thr603=)
|
rs751006360
|
0.00002
|
|
NM_001458.5(FLNC):c.1848C>T (p.Ile616=)
|
rs770173704
|
0.00002
|
|
NM_001458.5(FLNC):c.1976T>G (p.Leu659Arg)
|
rs576402053
|
0.00002
|
|
NM_001458.5(FLNC):c.2008-7C>T
|
rs767576240
|
0.00002
|
|
NM_001458.5(FLNC):c.2190C>T (p.Tyr730=)
|
rs746733934
|
0.00002
|
|
NM_001458.5(FLNC):c.2216C>T (p.Thr739Ile)
|
rs749380628
|
0.00002
|
|
NM_001458.5(FLNC):c.2244C>T (p.Asn748=)
|
rs752145129
|
0.00002
|
|
NM_001458.5(FLNC):c.2311G>A (p.Gly771Ser)
|
rs1031265089
|
0.00002
|
|
NM_001458.5(FLNC):c.2364G>A (p.Thr788=)
|
rs1020284790
|
0.00002
|
|
NM_001458.5(FLNC):c.2377G>A (p.Glu793Lys)
|
rs187143486
|
0.00002
|
|
NM_001458.5(FLNC):c.2403C>T (p.Ile801=)
|
rs369234137
|
0.00002
|
|
NM_001458.5(FLNC):c.2458G>A (p.Asp820Asn)
|
rs965901086
|
0.00002
|
|
NM_001458.5(FLNC):c.2466C>T (p.Ile822=)
|
rs1349110023
|
0.00002
|
|
NM_001458.5(FLNC):c.2551-17G>A
|
rs953166619
|
0.00002
|
|
NM_001458.5(FLNC):c.2574C>T (p.His858=)
|
rs779819905
|
0.00002
|
|
NM_001458.5(FLNC):c.2595C>T (p.His865=)
|
rs778744785
|
0.00002
|
|
NM_001458.5(FLNC):c.2642-16C>T
|
rs747314181
|
0.00002
|
|
NM_001458.5(FLNC):c.2691C>T (p.Ala897=)
|
rs758116420
|
0.00002
|
|
NM_001458.5(FLNC):c.2692G>A (p.Gly898Ser)
|
rs777692031
|
0.00002
|
|
NM_001458.5(FLNC):c.2736C>T (p.Gly912=)
|
rs768894698
|
0.00002
|
|
NM_001458.5(FLNC):c.2812-16C>T
|
rs754582909
|
0.00002
|
|
NM_001458.5(FLNC):c.2812-4A>T
|
rs1461105538
|
0.00002
|
|
NM_001458.5(FLNC):c.2839G>C (p.Gly947Arg)
|
rs372741923
|
0.00002
|
|
NM_001458.5(FLNC):c.2879T>G (p.Val960Gly)
|
rs568452175
|
0.00002
|
|
NM_001458.5(FLNC):c.2934G>A (p.Val978=)
|
rs771749289
|
0.00002
|
|
NM_001458.5(FLNC):c.3022C>T (p.Arg1008Cys)
|
rs757969015
|
0.00002
|
|
NM_001458.5(FLNC):c.3069C>G (p.Ala1023=)
|
rs1022641897
|
0.00002
|
|
NM_001458.5(FLNC):c.3093G>A (p.Pro1031=)
|
rs1203053799
|
0.00002
|
|
NM_001458.5(FLNC):c.3243G>A (p.Ala1081=)
|
rs534482249
|
0.00002
|
|
NM_001458.5(FLNC):c.3255C>T (p.Ile1085=)
|
rs771719713
|
0.00002
|
|
NM_001458.5(FLNC):c.3300G>A (p.Glu1100=)
|
rs1313856787
|
0.00002
|
|
NM_001458.5(FLNC):c.3310G>A (p.Glu1104Lys)
|
rs535109443
|
0.00002
|
|
NM_001458.5(FLNC):c.3372G>A (p.Thr1124=)
|
rs556913973
|
0.00002
|
|
NM_001458.5(FLNC):c.3405T>C (p.Phe1135=)
|
rs775337940
|
0.00002
|
|
NM_001458.5(FLNC):c.360G>A (p.Lys120=)
|
rs867399299
|
0.00002
|
|
NM_001458.5(FLNC):c.3649A>T (p.Ser1217Cys)
|
rs759597112
|
0.00002
|
|
NM_001458.5(FLNC):c.3744C>T (p.Val1248=)
|
rs374922440
|
0.00002
|
|
NM_001458.5(FLNC):c.3789C>T (p.His1263=)
|
rs780906350
|
0.00002
|
|
NM_001458.5(FLNC):c.3812C>G (p.Thr1271Ser)
|
rs778997084
|
0.00002
|
|
NM_001458.5(FLNC):c.3837C>T (p.Ser1279=)
|
rs761100799
|
0.00002
|
|
NM_001458.5(FLNC):c.3851G>A (p.Gly1284Asp)
|
rs1041643602
|
0.00002
|
|
NM_001458.5(FLNC):c.3964+10G>A
|
rs747730336
|
0.00002
|
|
NM_001458.5(FLNC):c.3965-13G>C
|
rs1451257102
|
0.00002
|
|
NM_001458.5(FLNC):c.400A>G (p.Ile134Val)
|
rs150285287
|
0.00002
|
|
NM_001458.5(FLNC):c.4018T>A (p.Phe1340Ile)
|
rs775383465
|
0.00002
|
|
NM_001458.5(FLNC):c.4061G>A (p.Arg1354Gln)
|
rs572132215
|
0.00002
|
|
NM_001458.5(FLNC):c.4073C>G (p.Pro1358Arg)
|
rs769586047
|
0.00002
|
|
NM_001458.5(FLNC):c.4159A>T (p.Ile1387Phe)
|
rs1032003580
|
0.00002
|
|
NM_001458.5(FLNC):c.4269C>T (p.Phe1423=)
|
rs781089974
|
0.00002
|
|
NM_001458.5(FLNC):c.4300C>T (p.Arg1434Cys)
|
rs536331212
|
0.00002
|
|
NM_001458.5(FLNC):c.4513T>C (p.Tyr1505His)
|
rs761352737
|
0.00002
|
|
NM_001458.5(FLNC):c.4541C>T (p.Thr1514Met)
|
rs1159701068
|
0.00002
|
|
NM_001458.5(FLNC):c.4565A>G (p.Gln1522Arg)
|
rs1022106059
|
0.00002
|
|
NM_001458.5(FLNC):c.4635C>T (p.Ser1545=)
|
rs371367894
|
0.00002
|
|
NM_001458.5(FLNC):c.4662C>T (p.Ile1554=)
|
rs374683306
|
0.00002
|
|
NM_001458.5(FLNC):c.4699C>T (p.Arg1567Trp)
|
rs369842920
|
0.00002
|
|
NM_001458.5(FLNC):c.4705G>A (p.Ala1569Thr)
|
rs768737324
|
0.00002
|
|
NM_001458.5(FLNC):c.4711G>A (p.Glu1571Lys)
|
rs761793156
|
0.00002
|
|
NM_001458.5(FLNC):c.4724C>G (p.Thr1575Ser)
|
rs773294974
|
0.00002
|
|
NM_001458.5(FLNC):c.4800G>A (p.Val1600=)
|
rs747928612
|
0.00002
|
|
NM_001458.5(FLNC):c.4860G>A (p.Glu1620=)
|
rs1397680696
|
0.00002
|
|
NM_001458.5(FLNC):c.4928-4C>G
|
rs774816687
|
0.00002
|
|
NM_001458.5(FLNC):c.5124G>A (p.Ala1708=)
|
rs764707313
|
0.00002
|
|
NM_001458.5(FLNC):c.512A>G (p.Asn171Ser)
|
rs757824715
|
0.00002
|
|
NM_001458.5(FLNC):c.5156G>A (p.Arg1719His)
|
rs746777092
|
0.00002
|
|
NM_001458.5(FLNC):c.5160C>T (p.Phe1720=)
|
rs562101000
|
0.00002
|
|
NM_001458.5(FLNC):c.5200-17G>A
|
rs377225258
|
0.00002
|
|
NM_001458.5(FLNC):c.5200-9C>T
|
rs777290470
|
0.00002
|
|
NM_001458.5(FLNC):c.5257C>A (p.Pro1753Thr)
|
rs573399358
|
0.00002
|
|
NM_001458.5(FLNC):c.5298+7C>T
|
rs773294846
|
0.00002
|
|
NM_001458.5(FLNC):c.5299-14C>T
|
rs754663125
|
0.00002
|
|
NM_001458.5(FLNC):c.5375C>T (p.Ala1792Val)
|
rs200233856
|
0.00002
|
|
NM_001458.5(FLNC):c.5388G>C (p.Gly1796=)
|
rs371633189
|
0.00002
|
|
NM_001458.5(FLNC):c.5407C>T (p.Arg1803Trp)
|
rs369457426
|
0.00002
|
|
NM_001458.5(FLNC):c.5408G>A (p.Arg1803Gln)
|
rs757482925
|
0.00002
|
|
NM_001458.5(FLNC):c.5412G>A (p.Met1804Ile)
|
rs564010656
|
0.00002
|
|
NM_001458.5(FLNC):c.548G>A (p.Arg183His)
|
rs747837803
|
0.00002
|
|
NM_001458.5(FLNC):c.5579G>A (p.Arg1860His)
|
rs1019973830
|
0.00002
|
|
NM_001458.5(FLNC):c.5580C>G (p.Arg1860=)
|
rs955205184
|
0.00002
|
|
NM_001458.5(FLNC):c.558G>A (p.Gln186=)
|
rs532206394
|
0.00002
|
|
NM_001458.5(FLNC):c.5657A>G (p.Asp1886Gly)
|
rs771960952
|
0.00002
|
|
NM_001458.5(FLNC):c.5669-10C>T
|
rs371394538
|
0.00002
|
|
NM_001458.5(FLNC):c.5746G>A (p.Val1916Met)
|
rs763551371
|
0.00002
|
|
NM_001458.5(FLNC):c.576C>T (p.Gly192=)
|
rs554658261
|
0.00002
|
|
NM_001458.5(FLNC):c.5826C>T (p.Phe1942=)
|
rs567779611
|
0.00002
|
|
NM_001458.5(FLNC):c.6030C>T (p.Val2010=)
|
rs375957769
|
0.00002
|
|
NM_001458.5(FLNC):c.6156C>T (p.Ser2052=)
|
rs199750173
|
0.00002
|
|
NM_001458.5(FLNC):c.6209-4C>T
|
rs752959773
|
0.00002
|
|
NM_001458.5(FLNC):c.6280G>A (p.Gly2094Arg)
|
rs188476936
|
0.00002
|
|
NM_001458.5(FLNC):c.6315C>T (p.Pro2105=)
|
rs764435558
|
0.00002
|
|
NM_001458.5(FLNC):c.6563C>T (p.Thr2188Met)
|
rs769574342
|
0.00002
|
|
NM_001458.5(FLNC):c.6564G>A (p.Thr2188=)
|
rs775348656
|
0.00002
|
|
NM_001458.5(FLNC):c.6588G>A (p.Thr2196=)
|
rs750190004
|
0.00002
|
|
NM_001458.5(FLNC):c.6727+10G>A
|
rs776420317
|
0.00002
|
|
NM_001458.5(FLNC):c.6773C>T (p.Ser2258Leu)
|
rs762051422
|
0.00002
|
|
NM_001458.5(FLNC):c.6774G>A (p.Ser2258=)
|
rs767691386
|
0.00002
|
|
NM_001458.5(FLNC):c.6777C>A (p.Gly2259=)
|
rs1057161787
|
0.00002
|
|
NM_001458.5(FLNC):c.6861G>A (p.Thr2287=)
|
rs773130088
|
0.00002
|
|
NM_001458.5(FLNC):c.6923C>T (p.Pro2308Leu)
|
rs369250297
|
0.00002
|
|
NM_001458.5(FLNC):c.6975G>A (p.Glu2325=)
|
rs778823809
|
0.00002
|
|
NM_001458.5(FLNC):c.6986C>G (p.Ala2329Gly)
|
rs746991573
|
0.00002
|
|
NM_001458.5(FLNC):c.7228C>T (p.Arg2410Cys)
|
rs750686083
|
0.00002
|
|
NM_001458.5(FLNC):c.7251+20G>T
|
rs758879860
|
0.00002
|
|
NM_001458.5(FLNC):c.7310G>A (p.Arg2437Gln)
|
rs201762568
|
0.00002
|
|
NM_001458.5(FLNC):c.7315G>A (p.Val2439Met)
|
rs752667511
|
0.00002
|
|
NM_001458.5(FLNC):c.7384+15C>T
|
rs775641997
|
0.00002
|
|
NM_001458.5(FLNC):c.7546G>A (p.Glu2516Lys)
|
rs373691962
|
0.00002
|
|
NM_001458.5(FLNC):c.7677T>C (p.His2559=)
|
rs200760961
|
0.00002
|
|
NM_001458.5(FLNC):c.7731C>T (p.Tyr2577=)
|
rs374072349
|
0.00002
|
|
NM_001458.5(FLNC):c.7812C>T (p.His2604=)
|
rs770653559
|
0.00002
|
|
NM_001458.5(FLNC):c.7990+11G>C
|
rs779393533
|
0.00002
|
|
NM_001458.5(FLNC):c.8070G>T (p.Arg2690=)
|
rs373087529
|
0.00002
|
|
NM_001458.5(FLNC):c.8073G>A (p.Val2691=)
|
rs577664185
|
0.00002
|
|
NM_001458.5(FLNC):c.896C>T (p.Thr299Ile)
|
rs774743325
|
0.00002
|
|
NM_001458.5(FLNC):c.924C>T (p.Gly308=)
|
rs541392206
|
0.00002
|
|
NM_001458.5(FLNC):c.969+13C>T
|
rs774847804
|
0.00002
|
|
NM_001458.5(FLNC):c.977T>C (p.Val326Ala)
|
rs570010538
|
0.00002
|
|
NM_001927.4(DES):c.1008C>T (p.Asp336=)
|
rs531293539
|
0.00002
|
|
NM_001927.4(DES):c.1116G>A (p.Glu372=)
|
rs752030448
|
0.00002
|
|
NM_001927.4(DES):c.258C>G (p.Gly86=)
|
rs994454109
|
0.00002
|
|
NM_001927.4(DES):c.414C>G (p.Ala138=)
|
rs1445220768
|
0.00002
|
|
NM_001927.4(DES):c.489G>A (p.Arg163=)
|
rs1448975712
|
0.00002
|
|
NM_001927.4(DES):c.690A>G (p.Glu230=)
|
rs142145822
|
0.00002
|
|
NM_001927.4(DES):c.708C>T (p.Ile236=)
|
rs886044078
|
0.00002
|
|
NM_001927.4(DES):c.897+13G>A
|
rs201433470
|
0.00002
|
|
NM_001927.4(DES):c.933C>T (p.Asn311=)
|
rs756434148
|
0.00002
|
|
NM_001927.4(DES):c.993C>T (p.Tyr331=)
|
rs200858541
|
0.00002
|
|
NM_001943.5(DSG2):c.1014+7A>G
|
rs756562276
|
0.00002
|
|
NM_001943.5(DSG2):c.1280+16A>G
|
rs370932437
|
0.00002
|
|
NM_001943.5(DSG2):c.1392A>G (p.Thr464=)
|
rs373918593
|
0.00002
|
|
NM_001943.5(DSG2):c.1651+15T>C
|
rs781396686
|
0.00002
|
|
NM_001943.5(DSG2):c.1668G>T (p.Leu556=)
|
rs1173417819
|
0.00002
|
|
NM_001943.5(DSG2):c.2100C>T (p.Ser700=)
|
rs397516704
|
0.00002
|
|
NM_001943.5(DSG2):c.2339C>T (p.Ala780Val)
|
rs547406532
|
0.00002
|
|
NM_001943.5(DSG2):c.2853G>A (p.Val951=)
|
rs775759794
|
0.00002
|
|
NM_001943.5(DSG2):c.2997G>A (p.Ser999=)
|
rs763888499
|
0.00002
|
|
NM_001943.5(DSG2):c.3225G>A (p.Thr1075=)
|
rs773954315
|
0.00002
|
|
NM_001943.5(DSG2):c.3291T>C (p.Asn1097=)
|
rs757473850
|
0.00002
|
|
NM_001943.5(DSG2):c.45+18G>T
|
rs762894860
|
0.00002
|
|
NM_001943.5(DSG2):c.57C>T (p.Asn19=)
|
rs587780925
|
0.00002
|
|
NM_001943.5(DSG2):c.637C>T (p.Leu213=)
|
rs1317752156
|
0.00002
|
|
NM_001943.5(DSG2):c.675T>C (p.Val225=)
|
rs576938518
|
0.00002
|
|
NM_001943.5(DSG2):c.691-15T>C
|
rs1255608052
|
0.00002
|
|
NM_001985.3(ETFB):c.393T>C (p.Cys131=)
|
rs371564310
|
0.00002
|
|
NM_001985.3(ETFB):c.439-20C>G
|
rs755291156
|
0.00002
|
|
NM_001985.3(ETFB):c.57+7G>C
|
rs759897705
|
0.00002
|
|
NM_001985.3(ETFB):c.576C>T (p.Tyr192=)
|
rs748162444
|
0.00002
|
|
NM_001985.3(ETFB):c.702G>A (p.Thr234=)
|
rs769668781
|
0.00002
|
|
NM_002230.4(JUP):c.1086C>T (p.Thr362=)
|
rs781838058
|
0.00002
|
|
NM_002230.4(JUP):c.1152C>T (p.Thr384=)
|
rs782386210
|
0.00002
|
|
NM_002230.4(JUP):c.1407C>T (p.Ala469=)
|
rs782450410
|
0.00002
|
|
NM_002230.4(JUP):c.159C>T (p.Tyr53=)
|
rs370760069
|
0.00002
|
|
NM_002230.4(JUP):c.1924+18A>C
|
rs1057520892
|
0.00002
|
|
NM_002230.4(JUP):c.195G>T (p.Val65=)
|
rs1454514424
|
0.00002
|
|
NM_002230.4(JUP):c.2087-18C>T
|
rs776307936
|
0.00002
|
|
NM_002230.4(JUP):c.2208G>A (p.Pro736=)
|
rs371508357
|
0.00002
|
|
NM_002230.4(JUP):c.351C>T (p.Ala117=)
|
rs397517300
|
0.00002
|
|
NM_002230.4(JUP):c.447A>G (p.Lys149=)
|
rs199853316
|
0.00002
|
|
NM_002230.4(JUP):c.51G>A (p.Gln17=)
|
rs782236888
|
0.00002
|
|
NM_002230.4(JUP):c.654G>A (p.Gly218=)
|
rs112105828
|
0.00002
|
|
NM_002230.4(JUP):c.660C>T (p.Leu220=)
|
rs782771003
|
0.00002
|
|
NM_002230.4(JUP):c.694G>A (p.Val232Ile)
|
rs137989964
|
0.00002
|
|
NM_002230.4(JUP):c.707+14C>T
|
rs1313165709
|
0.00002
|
|
NM_002230.4(JUP):c.765G>A (p.Leu255=)
|
rs782535119
|
0.00002
|
|
NM_002230.4(JUP):c.804C>T (p.Asp268=)
|
rs782667629
|
0.00002
|
|
NM_002230.4(JUP):c.99C>T (p.Cys33=)
|
rs139172952
|
0.00002
|
|
NM_002471.4(MYH6):c.1047C>T (p.Gly349=)
|
rs370709048
|
0.00002
|
|
NM_002471.4(MYH6):c.1086C>T (p.Asn362=)
|
rs375189593
|
0.00002
|
|
NM_002471.4(MYH6):c.1398C>T (p.Phe466=)
|
rs745448722
|
0.00002
|
|
NM_002471.4(MYH6):c.1575C>T (p.Ile525=)
|
rs756615422
|
0.00002
|
|
NM_002471.4(MYH6):c.189C>T (p.Thr63=)
|
rs758633104
|
0.00002
|
|
NM_002471.4(MYH6):c.1944G>A (p.Thr648=)
|
rs367742240
|
0.00002
|
|
NM_002471.4(MYH6):c.201+17G>A
|
rs374935099
|
0.00002
|
|
NM_002471.4(MYH6):c.201+20G>A
|
rs759225988
|
0.00002
|
|
NM_002471.4(MYH6):c.2168+10A>T
|
rs1389383829
|
0.00002
|
|
NM_002471.4(MYH6):c.2217T>C (p.Asp739=)
|
rs374177807
|
0.00002
|
|
NM_002471.4(MYH6):c.2271G>A (p.Gln757=)
|
rs777100730
|
0.00002
|
|
NM_002471.4(MYH6):c.2310G>A (p.Gly770=)
|
rs778231083
|
0.00002
|
|
NM_002471.4(MYH6):c.2766G>A (p.Lys922=)
|
rs373721137
|
0.00002
|
|
NM_002471.4(MYH6):c.2808G>A (p.Ala936=)
|
rs753515476
|
0.00002
|
|
NM_002471.4(MYH6):c.2844G>A (p.Glu948=)
|
rs1400491977
|
0.00002
|
|
NM_002471.4(MYH6):c.2929-6C>T
|
rs1190687141
|
0.00002
|
|
NM_002471.4(MYH6):c.2958G>C (p.Gly986=)
|
rs769651526
|
0.00002
|
|
NM_002471.4(MYH6):c.3420C>T (p.Asp1140=)
|
rs1057523901
|
0.00002
|
|
NM_002471.4(MYH6):c.3468C>T (p.Gly1156=)
|
rs545420992
|
0.00002
|
|
NM_002471.4(MYH6):c.3477G>A (p.Thr1159=)
|
rs573242724
|
0.00002
|
|
NM_002471.4(MYH6):c.3576G>A (p.Ala1192=)
|
rs762573185
|
0.00002
|
|
NM_002471.4(MYH6):c.3843G>A (p.Lys1281=)
|
rs776787896
|
0.00002
|
|
NM_002471.4(MYH6):c.3860-8A>G
|
rs772882288
|
0.00002
|
|
NM_002471.4(MYH6):c.3987C>T (p.Asn1329=)
|
rs1268772368
|
0.00002
|
|
NM_002471.4(MYH6):c.4062G>A (p.Glu1354=)
|
rs754664098
|
0.00002
|
|
NM_002471.4(MYH6):c.4083C>T (p.Arg1361=)
|
rs568275249
|
0.00002
|
|
NM_002471.4(MYH6):c.4104G>A (p.Ser1368=)
|
rs374887637
|
0.00002
|
|
NM_002471.4(MYH6):c.4176-10A>C
|
rs200280718
|
0.00002
|
|
NM_002471.4(MYH6):c.4470C>T (p.Tyr1490=)
|
rs727504964
|
0.00002
|
|
NM_002471.4(MYH6):c.4526-7del
|
rs757463737
|
0.00002
|
|
NM_002471.4(MYH6):c.453G>A (p.Pro151=)
|
rs777360238
|
0.00002
|
|
NM_002471.4(MYH6):c.480C>T (p.Asn160=)
|
rs780910329
|
0.00002
|
|
NM_002471.4(MYH6):c.4842G>A (p.Leu1614=)
|
rs763639676
|
0.00002
|
|
NM_002471.4(MYH6):c.5076C>T (p.Ala1692=)
|
rs377569988
|
0.00002
|
|
NM_002471.4(MYH6):c.5136C>T (p.Ser1712=)
|
rs397516774
|
0.00002
|
|
NM_002471.4(MYH6):c.530+7G>A
|
rs1226127637
|
0.00002
|
|
NM_002471.4(MYH6):c.5415C>T (p.Ile1805=)
|
rs776160056
|
0.00002
|
|
NM_002471.4(MYH6):c.5565+11C>T
|
rs778921765
|
0.00002
|
|
NM_002471.4(MYH6):c.5730G>A (p.Glu1910=)
|
rs749763001
|
0.00002
|
|
NM_002471.4(MYH6):c.643-16T>C
|
rs897347927
|
0.00002
|
|
NM_002471.4(MYH6):c.693C>T (p.Phe231=)
|
rs772154148
|
0.00002
|
|
NM_002471.4(MYH6):c.898+19C>T
|
rs775971161
|
0.00002
|
|
NM_002471.4(MYH6):c.933C>T (p.Tyr311=)
|
rs371728824
|
0.00002
|
|
NM_002633.3(PGM1):c.1104G>A (p.Ala368=)
|
rs776558188
|
0.00002
|
|
NM_002633.3(PGM1):c.1170T>C (p.Asp390=)
|
rs779705334
|
0.00002
|
|
NM_003280.3(TNNC1):c.203-10C>G
|
rs727505237
|
0.00002
|
|
NM_003280.3(TNNC1):c.216G>A (p.Val72=)
|
rs770331194
|
0.00002
|
|
NM_003280.3(TNNC1):c.24+9C>T
|
rs780786150
|
0.00002
|
|
NM_003280.3(TNNC1):c.56-8G>A
|
rs727503495
|
0.00002
|
|
NM_003476.5(CSRP3):c.252G>A (p.Thr84=)
|
rs755614464
|
0.00002
|
|
NM_003476.5(CSRP3):c.282-16C>T
|
rs757074408
|
0.00002
|
|
NM_003673.4(TCAP):c.178C>T (p.Leu60=)
|
rs549769566
|
0.00002
|
|
NM_003673.4(TCAP):c.267G>A (p.Leu89=)
|
rs1419129039
|
0.00002
|
|
NM_003673.4(TCAP):c.279C>T (p.Ile93=)
|
rs144149447
|
0.00002
|
|
NM_003673.4(TCAP):c.33G>A (p.Ser11=)
|
rs762224660
|
0.00002
|
|
NM_003803.4(MYOM1):c.252G>A (p.Arg84=)
|
rs1164063907
|
0.00002
|
|
NM_003803.4(MYOM1):c.2751G>A (p.Gln917=)
|
rs768362849
|
0.00002
|
|
NM_003803.4(MYOM1):c.2877G>A (p.Lys959=)
|
rs755157204
|
0.00002
|
|
NM_003803.4(MYOM1):c.3363G>A (p.Ala1121=)
|
rs569839525
|
0.00002
|
|
NM_003803.4(MYOM1):c.3657A>C (p.Ala1219=)
|
rs779799272
|
0.00002
|
|
NM_003803.4(MYOM1):c.3727+10C>T
|
rs751799791
|
0.00002
|
|
NM_003803.4(MYOM1):c.4473C>T (p.Asn1491=)
|
rs1218587251
|
0.00002
|
|
NM_003803.4(MYOM1):c.462G>A (p.Thr154=)
|
rs773824816
|
0.00002
|
|
NM_003803.4(MYOM1):c.4914C>T (p.Thr1638=)
|
rs368172542
|
0.00002
|
|
NM_003803.4(MYOM1):c.78G>C (p.Val26=)
|
rs775736584
|
0.00002
|
|
NM_003803.4(MYOM1):c.93G>A (p.Arg31=)
|
rs876657536
|
0.00002
|
|
NM_004100.5(EYA4):c.1058G>A (p.Gly353Glu)
|
rs267600817
|
0.00002
|
|
NM_004100.5(EYA4):c.1107+10C>G
|
rs752586864
|
0.00002
|
|
NM_004100.5(EYA4):c.1137C>T (p.Thr379=)
|
rs151245774
|
0.00002
|
|
NM_004100.5(EYA4):c.1164C>T (p.Thr388=)
|
rs763994459
|
0.00002
|
|
NM_004100.5(EYA4):c.1341-18G>A
|
rs763846902
|
0.00002
|
|
NM_004100.5(EYA4):c.1506C>T (p.Leu502=)
|
rs753035830
|
0.00002
|
|
NM_004100.5(EYA4):c.1540T>C (p.Leu514=)
|
rs779172500
|
0.00002
|
|
NM_004100.5(EYA4):c.1644G>A (p.Thr548=)
|
rs371913096
|
0.00002
|
|
NM_004100.5(EYA4):c.1739-9A>G
|
rs754524311
|
0.00002
|
|
NM_004100.5(EYA4):c.348G>A (p.Ala116=)
|
rs373496105
|
0.00002
|
|
NM_004100.5(EYA4):c.370+16C>T
|
rs376239950
|
0.00002
|
|
NM_004100.5(EYA4):c.437+9del
|
rs748093293
|
0.00002
|
|
NM_004100.5(EYA4):c.513G>A (p.Gly171=)
|
rs776245355
|
0.00002
|
|
NM_004100.5(EYA4):c.579C>T (p.Tyr193=)
|
rs747954279
|
0.00002
|
|
NM_004100.5(EYA4):c.805-12T>C
|
rs375862613
|
0.00002
|
|
NM_004100.5(EYA4):c.861A>G (p.Ala287=)
|
rs775461679
|
0.00002
|
|
NM_004100.5(EYA4):c.971-6C>G
|
rs369993979
|
0.00002
|
|
NM_004281.4(BAG3):c.102C>G (p.Thr34=)
|
rs145934400
|
0.00002
|
|
NM_004281.4(BAG3):c.1064C>T (p.Pro355Leu)
|
rs1227175290
|
0.00002
|
|
NM_004281.4(BAG3):c.1150C>T (p.Pro384Ser)
|
rs1286082290
|
0.00002
|
|
NM_004281.4(BAG3):c.1239C>T (p.Ala413=)
|
rs201137108
|
0.00002
|
|
NM_004281.4(BAG3):c.318G>T (p.Arg106=)
|
rs750075933
|
0.00002
|
|
NM_004281.4(BAG3):c.378G>A (p.Ala126=)
|
rs753235577
|
0.00002
|
|
NM_004281.4(BAG3):c.386C>T (p.Ala129Val)
|
rs876657747
|
0.00002
|
|
NM_004281.4(BAG3):c.705G>A (p.Ala235=)
|
rs141328836
|
0.00002
|
|
NM_004281.4(BAG3):c.714G>A (p.Gly238=)
|
rs377183466
|
0.00002
|
|
NM_004281.4(BAG3):c.897C>T (p.Val299=)
|
rs763915884
|
0.00002
|
|
NM_004281.4(BAG3):c.943T>A (p.Ser315Thr)
|
rs761417402
|
0.00002
|
|
NM_004415.4(DSP):c.1040T>C (p.Ile347Thr)
|
rs757208743
|
0.00002
|
|
NM_004415.4(DSP):c.104G>C (p.Gly35Ala)
|
rs202194206
|
0.00002
|
|
NM_004415.4(DSP):c.1068G>A (p.Thr356=)
|
rs766094745
|
0.00002
|
|
NM_004415.4(DSP):c.1149A>G (p.Glu383=)
|
rs572980966
|
0.00002
|
|
NM_004415.4(DSP):c.1191C>T (p.Asp397=)
|
rs1046392713
|
0.00002
|
|
NM_004415.4(DSP):c.1215C>T (p.Cys405=)
|
rs377500825
|
0.00002
|
|
NM_004415.4(DSP):c.1235A>G (p.Gln412Arg)
|
rs1183147646
|
0.00002
|
|
NM_004415.4(DSP):c.1298G>A (p.Arg433His)
|
rs752143388
|
0.00002
|
|
NM_004415.4(DSP):c.130C>T (p.Arg44Trp)
|
rs1255744065
|
0.00002
|
|
NM_004415.4(DSP):c.1349C>T (p.Pro450Leu)
|
rs756357907
|
0.00002
|
|
NM_004415.4(DSP):c.1419+18A>C
|
rs772789817
|
0.00002
|
|
NM_004415.4(DSP):c.1493C>T (p.Pro498Leu)
|
rs761051181
|
0.00002
|
|
NM_004415.4(DSP):c.1522G>A (p.Val508Met)
|
rs751537483
|
0.00002
|
|
NM_004415.4(DSP):c.1663A>T (p.Ile555Phe)
|
rs763241703
|
0.00002
|
|
NM_004415.4(DSP):c.1677G>A (p.Lys559=)
|
rs143356115
|
0.00002
|
|
NM_004415.4(DSP):c.1744G>A (p.Asp582Asn)
|
rs756671027
|
0.00002
|
|
NM_004415.4(DSP):c.1816C>T (p.Arg606Trp)
|
rs372467697
|
0.00002
|
|
NM_004415.4(DSP):c.2027G>A (p.Arg676His)
|
rs777782794
|
0.00002
|
|
NM_004415.4(DSP):c.2184T>A (p.Asp728Glu)
|
rs750383681
|
0.00002
|
|
NM_004415.4(DSP):c.2275G>A (p.Val759Ile)
|
rs745544854
|
0.00002
|
|
NM_004415.4(DSP):c.2329A>G (p.Ile777Val)
|
rs755860619
|
0.00002
|
|
NM_004415.4(DSP):c.2364A>G (p.Glu788=)
|
rs1397865751
|
0.00002
|
|
NM_004415.4(DSP):c.2443A>G (p.Lys815Glu)
|
rs774638728
|
0.00002
|
|
NM_004415.4(DSP):c.2568C>T (p.Phe856=)
|
rs746036365
|
0.00002
|
|
NM_004415.4(DSP):c.2675G>A (p.Arg892His)
|
rs758592774
|
0.00002
|
|
NM_004415.4(DSP):c.2719C>T (p.Arg907Cys)
|
rs749051278
|
0.00002
|
|
NM_004415.4(DSP):c.2771T>C (p.Met924Thr)
|
rs752816142
|
0.00002
|
|
NM_004415.4(DSP):c.2861G>A (p.Cys954Tyr)
|
rs779878192
|
0.00002
|
|
NM_004415.4(DSP):c.3147G>A (p.Ser1049=)
|
rs756341143
|
0.00002
|
|
NM_004415.4(DSP):c.3243G>A (p.Glu1081=)
|
rs761399419
|
0.00002
|
|
NM_004415.4(DSP):c.3282G>A (p.Lys1094=)
|
rs2491080
|
0.00002
|
|
NM_004415.4(DSP):c.3303C>T (p.Tyr1101=)
|
rs372440854
|
0.00002
|
|
NM_004415.4(DSP):c.3388G>A (p.Asp1130Asn)
|
rs765769174
|
0.00002
|
|
NM_004415.4(DSP):c.3642T>A (p.Ile1214=)
|
rs755908729
|
0.00002
|
|
NM_004415.4(DSP):c.3661A>G (p.Ile1221Val)
|
rs794728120
|
0.00002
|
|
NM_004415.4(DSP):c.3729A>G (p.Ser1243=)
|
rs150241609
|
0.00002
|
|
NM_004415.4(DSP):c.3753T>C (p.Asp1251=)
|
rs749003139
|
0.00002
|
|
NM_004415.4(DSP):c.3754G>A (p.Glu1252Lys)
|
rs1262533485
|
0.00002
|
|
NM_004415.4(DSP):c.3766C>T (p.Leu1256Phe)
|
rs775080202
|
0.00002
|
|
NM_004415.4(DSP):c.3774C>A (p.Asp1258Glu)
|
rs748733750
|
0.00002
|
|
NM_004415.4(DSP):c.3800G>A (p.Arg1267Gln)
|
rs759698959
|
0.00002
|
|
NM_004415.4(DSP):c.3877A>G (p.Ile1293Val)
|
rs376555665
|
0.00002
|
|
NM_004415.4(DSP):c.3912G>C (p.Glu1304Asp)
|
rs764189408
|
0.00002
|
|
NM_004415.4(DSP):c.3954G>A (p.Lys1318=)
|
rs866656949
|
0.00002
|
|
NM_004415.4(DSP):c.4104C>A (p.Thr1368=)
|
rs1464715776
|
0.00002
|
|
NM_004415.4(DSP):c.4221A>G (p.Glu1407=)
|
rs144427450
|
0.00002
|
|
NM_004415.4(DSP):c.4233G>C (p.Arg1411Ser)
|
rs771721410
|
0.00002
|
|
NM_004415.4(DSP):c.4275G>T (p.Arg1425Ser)
|
rs763489227
|
0.00002
|
|
NM_004415.4(DSP):c.4471G>A (p.Asp1491Asn)
|
rs768402359
|
0.00002
|
|
NM_004415.4(DSP):c.4478A>C (p.Glu1493Ala)
|
rs760433367
|
0.00002
|
|
NM_004415.4(DSP):c.449G>A (p.Arg150Gln)
|
rs587782940
|
0.00002
|
|
NM_004415.4(DSP):c.4514C>T (p.Ala1505Val)
|
rs375919492
|
0.00002
|
|
NM_004415.4(DSP):c.4565C>T (p.Thr1522Met)
|
rs375150075
|
0.00002
|
|
NM_004415.4(DSP):c.4610G>A (p.Arg1537His)
|
rs762135558
|
0.00002
|
|
NM_004415.4(DSP):c.4657G>A (p.Asp1553Asn)
|
rs730880084
|
0.00002
|
|
NM_004415.4(DSP):c.4670C>T (p.Thr1557Met)
|
rs747582734
|
0.00002
|
|
NM_004415.4(DSP):c.4808G>A (p.Arg1603Lys)
|
rs869025393
|
0.00002
|
|
NM_004415.4(DSP):c.4867T>C (p.Ser1623Pro)
|
rs749679496
|
0.00002
|
|
NM_004415.4(DSP):c.4991T>G (p.Leu1664Arg)
|
rs746139953
|
0.00002
|
|
NM_004415.4(DSP):c.5193C>T (p.Tyr1731=)
|
rs201663619
|
0.00002
|
|
NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile)
|
rs34738426
|
0.00002
|
|
NM_004415.4(DSP):c.5358A>G (p.Lys1786=)
|
rs771810995
|
0.00002
|
|
NM_004415.4(DSP):c.5383T>A (p.Ser1795Thr)
|
rs764279057
|
0.00002
|
|
NM_004415.4(DSP):c.5655A>G (p.Arg1885=)
|
rs768996277
|
0.00002
|
|
NM_004415.4(DSP):c.5726T>C (p.Ile1909Thr)
|
rs752360866
|
0.00002
|
|
NM_004415.4(DSP):c.5913G>T (p.Leu1971=)
|
rs373416071
|
0.00002
|
|
NM_004415.4(DSP):c.5932A>G (p.Met1978Val)
|
rs770077556
|
0.00002
|
|
NM_004415.4(DSP):c.5935C>G (p.Gln1979Glu)
|
rs773436512
|
0.00002
|
|
NM_004415.4(DSP):c.6054C>T (p.Ile2018=)
|
rs369700204
|
0.00002
|
|
NM_004415.4(DSP):c.6100G>A (p.Ala2034Thr)
|
rs1043978096
|
0.00002
|
|
NM_004415.4(DSP):c.6223C>T (p.Arg2075Trp)
|
rs751050235
|
0.00002
|
|
NM_004415.4(DSP):c.6269A>G (p.Glu2090Gly)
|
rs755069593
|
0.00002
|
|
NM_004415.4(DSP):c.6345G>T (p.Leu2115Phe)
|
rs766950975
|
0.00002
|
|
NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser)
|
rs372393122
|
0.00002
|
|
NM_004415.4(DSP):c.6464A>G (p.Asp2155Gly)
|
rs752740718
|
0.00002
|
|
NM_004415.4(DSP):c.6516T>C (p.Phe2172=)
|
rs1266595950
|
0.00002
|
|
NM_004415.4(DSP):c.6542T>C (p.Val2181Ala)
|
rs730880088
|
0.00002
|
|
NM_004415.4(DSP):c.6597C>T (p.Leu2199=)
|
rs567782337
|
0.00002
|
|
NM_004415.4(DSP):c.668G>A (p.Gly223Asp)
|
rs199509943
|
0.00002
|
|
NM_004415.4(DSP):c.6690G>A (p.Pro2230=)
|
rs145751089
|
0.00002
|
|
NM_004415.4(DSP):c.6732C>T (p.Asp2244=)
|
rs764124433
|
0.00002
|
|
NM_004415.4(DSP):c.6762C>T (p.Leu2254=)
|
rs138683913
|
0.00002
|
|
NM_004415.4(DSP):c.7074C>T (p.Leu2358=)
|
rs766369241
|
0.00002
|
|
NM_004415.4(DSP):c.7116C>T (p.Ile2372=)
|
rs185213858
|
0.00002
|
|
NM_004415.4(DSP):c.7117G>A (p.Ala2373Thr)
|
rs373965771
|
0.00002
|
|
NM_004415.4(DSP):c.7184G>A (p.Gly2395Asp)
|
rs777930834
|
0.00002
|
|
NM_004415.4(DSP):c.7185C>T (p.Gly2395=)
|
rs1296848321
|
0.00002
|
|
NM_004415.4(DSP):c.7191C>T (p.Phe2397=)
|
rs150574081
|
0.00002
|
|
NM_004415.4(DSP):c.7197G>A (p.Glu2399=)
|
rs372594837
|
0.00002
|
|
NM_004415.4(DSP):c.72G>A (p.Pro24=)
|
rs780463807
|
0.00002
|
|
NM_004415.4(DSP):c.7310A>G (p.Glu2437Gly)
|
rs794728132
|
0.00002
|
|
NM_004415.4(DSP):c.7575C>T (p.Gly2525=)
|
rs780156504
|
0.00002
|
|
NM_004415.4(DSP):c.7622G>A (p.Arg2541Lys)
|
rs142078450
|
0.00002
|
|
NM_004415.4(DSP):c.7787T>C (p.Ile2596Thr)
|
rs770590535
|
0.00002
|
|
NM_004415.4(DSP):c.7836C>T (p.Thr2612=)
|
rs762381028
|
0.00002
|
|
NM_004415.4(DSP):c.7883T>C (p.Leu2628Pro)
|
rs147484870
|
0.00002
|
|
NM_004415.4(DSP):c.7924G>A (p.Val2642Ile)
|
rs869025397
|
0.00002
|
|
NM_004415.4(DSP):c.797T>C (p.Met266Thr)
|
rs370890663
|
0.00002
|
|
NM_004415.4(DSP):c.8042A>C (p.Asp2681Ala)
|
rs746166372
|
0.00002
|
|
NM_004415.4(DSP):c.8044C>G (p.Gln2682Glu)
|
rs772365921
|
0.00002
|
|
NM_004415.4(DSP):c.8109A>G (p.Gly2703=)
|
rs78736738
|
0.00002
|
|
NM_004415.4(DSP):c.8233A>G (p.Ile2745Val)
|
rs747284663
|
0.00002
|
|
NM_004415.4(DSP):c.8256G>A (p.Arg2752=)
|
rs1313648350
|
0.00002
|
|
NM_004415.4(DSP):c.8279C>T (p.Ala2760Val)
|
rs774309765
|
0.00002
|
|
NM_004415.4(DSP):c.8374T>A (p.Ser2792Thr)
|
rs727504570
|
0.00002
|
|
NM_004415.4(DSP):c.8394T>A (p.Thr2798=)
|
rs775346694
|
0.00002
|
|
NM_004415.4(DSP):c.8402G>A (p.Arg2801His)
|
rs763712887
|
0.00002
|
|
NM_004415.4(DSP):c.8484C>G (p.Gly2828=)
|
rs1467235605
|
0.00002
|
|
NM_004415.4(DSP):c.8536C>G (p.Arg2846Gly)
|
rs397516972
|
0.00002
|
|
NM_004415.4(DSP):c.939+16G>A
|
rs781034092
|
0.00002
|
|
NM_004415.4(DSP):c.940-15T>C
|
rs766635749
|
0.00002
|
|
NM_004453.4(ETFDH):c.1371C>G (p.Ser457=)
|
rs749280294
|
0.00002
|
|
NM_004453.4(ETFDH):c.176-7C>T
|
rs776816664
|
0.00002
|
|
NM_004453.4(ETFDH):c.474G>A (p.Val158=)
|
rs1350126940
|
0.00002
|
|
NM_004453.4(ETFDH):c.558A>G (p.Gln186=)
|
rs143688210
|
0.00002
|
|
NM_004453.4(ETFDH):c.972+8A>G
|
rs778686663
|
0.00002
|
|
NM_004517.4(ILK):c.1041T>C (p.Pro347=)
|
rs748450237
|
0.00002
|
|
NM_004517.4(ILK):c.1338T>C (p.Leu446=)
|
rs144996026
|
0.00002
|
|
NM_004517.4(ILK):c.288G>A (p.Val96=)
|
rs148059090
|
0.00002
|
|
NM_004517.4(ILK):c.501A>G (p.Thr167=)
|
rs1446758399
|
0.00002
|
|
NM_004517.4(ILK):c.555C>T (p.His185=)
|
rs770369647
|
0.00002
|
|
NM_005159.5(ACTC1):c.180C>T (p.Ala60=)
|
rs370322510
|
0.00002
|
|
NM_005159.5(ACTC1):c.294G>A (p.Val98=)
|
rs397517058
|
0.00002
|
|
NM_005159.5(ACTC1):c.333G>A (p.Pro111=)
|
rs774767260
|
0.00002
|
|
NM_005159.5(ACTC1):c.405C>T (p.Tyr135=)
|
rs181479041
|
0.00002
|
|
NM_005159.5(ACTC1):c.455-18G>A
|
rs925035661
|
0.00002
|
|
NM_005159.5(ACTC1):c.456C>T (p.Gly152=)
|
rs771310484
|
0.00002
|
|
NM_005159.5(ACTC1):c.617-10A>G
|
rs751985418
|
0.00002
|
|
NM_005159.5(ACTC1):c.809-11C>A
|
rs1175630739
|
0.00002
|
|
NM_005159.5(ACTC1):c.809-8G>A
|
rs767180775
|
0.00002
|
|
NM_005159.5(ACTC1):c.903A>G (p.Leu301=)
|
rs138347995
|
0.00002
|
|
NM_005159.5(ACTC1):c.991-13T>C
|
rs1375741970
|
0.00002
|
|
NM_005343.4(HRAS):c.112-19G>A
|
rs755577443
|
0.00002
|
|
NM_005343.4(HRAS):c.358C>T (p.Leu120=)
|
rs397517139
|
0.00002
|
|
NM_005343.4(HRAS):c.450+17C>T
|
rs367869009
|
0.00002
|
|
NM_005343.4(HRAS):c.45C>T (p.Gly15=)
|
rs727504614
|
0.00002
|
|
NM_005343.4(HRAS):c.84T>C (p.Phe28=)
|
rs915086641
|
0.00002
|
|
NM_005921.2(MAP3K1):c.1035+12C>T
|
rs773590377
|
0.00002
|
|
NM_005921.2(MAP3K1):c.1605A>G (p.Gln535=)
|
rs56232761
|
0.00002
|
|
NM_005921.2(MAP3K1):c.548G>A (p.Arg183Gln)
|
rs1454725137
|
0.00002
|
|
NM_006073.4(TRDN):c.1098A>C (p.Ala366=)
|
rs1425417640
|
0.00002
|
|
NM_006073.4(TRDN):c.117C>T (p.Asp39=)
|
rs750571542
|
0.00002
|
|
NM_006073.4(TRDN):c.1186+11G>T
|
rs1476535612
|
0.00002
|
|
NM_006073.4(TRDN):c.1625-17C>A
|
rs543749199
|
0.00002
|
|
NM_006073.4(TRDN):c.1776A>C (p.Ile592=)
|
rs367716265
|
0.00002
|
|
NM_006073.4(TRDN):c.1871-6A>G
|
rs185268405
|
0.00002
|
|
NM_006073.4(TRDN):c.1951+16G>A
|
rs377046739
|
0.00002
|
|
NM_006073.4(TRDN):c.484+7del
|
rs764922806
|
0.00002
|
|
NM_006073.4(TRDN):c.485-7T>C
|
rs921833812
|
0.00002
|
|
NM_006073.4(TRDN):c.551-4T>C
|
rs1413167708
|
0.00002
|
|
NM_006073.4(TRDN):c.931+10T>A
|
rs754118635
|
0.00002
|
|
NM_006073.4(TRDN):c.992-12T>C
|
rs1184620677
|
0.00002
|
|
NM_006270.5(RRAS):c.242-8C>T
|
rs370459010
|
0.00002
|
|
NM_006270.5(RRAS):c.454-19G>A
|
rs776793181
|
0.00002
|
|
NM_006270.5(RRAS):c.572+20T>G
|
rs1017127642
|
0.00002
|
|
NM_006270.5(RRAS):c.94C>T (p.Leu32=)
|
rs764926027
|
0.00002
|
|
NM_006284.4(TAF10):c.*2237A>C
|
rs372657109
|
0.00002
|
|
NM_006284.4(TAF10):c.*2881G>A
|
rs201421009
|
0.00002
|
|
NM_006284.4(TAF10):c.*465G>A
|
rs755264665
|
0.00002
|
|
NM_006284.4(TAF10):c.*631G>A
|
rs1159966605
|
0.00002
|
|
NM_006284.4(TAF10):c.*782G>A
|
rs972559469
|
0.00002
|
|
NM_006393.3(NEBL):c.1978C>A (p.Gln660Lys)
|
rs11012351
|
0.00002
|
|
NM_006393.3(NEBL):c.2043G>A (p.Glu681=)
|
rs763968575
|
0.00002
|
|
NM_006393.3(NEBL):c.205A>G (p.Thr69Ala)
|
rs780384504
|
0.00002
|
|
NM_006393.3(NEBL):c.2148+19C>A
|
rs769120353
|
0.00002
|
|
NM_006393.3(NEBL):c.2242-16A>G
|
rs757332145
|
0.00002
|
|
NM_006393.3(NEBL):c.2395C>T (p.Pro799Ser)
|
rs566320226
|
0.00002
|
|
NM_006393.3(NEBL):c.2397C>T (p.Pro799=)
|
rs766216481
|
0.00002
|
|
NM_006393.3(NEBL):c.2529T>G (p.Val843=)
|
rs199821922
|
0.00002
|
|
NM_006393.3(NEBL):c.2577C>T (p.Asp859=)
|
rs746553915
|
0.00002
|
|
NM_006393.3(NEBL):c.2757A>G (p.Glu919=)
|
rs878854903
|
0.00002
|
|
NM_006393.3(NEBL):c.2869-10C>G
|
rs373167913
|
0.00002
|
|
NM_006393.3(NEBL):c.82-16C>A
|
rs199531054
|
0.00002
|
|
NM_006393.3(NEBL):c.903+15T>C
|
rs770515409
|
0.00002
|
|
NM_006393.3(NEBL):c.978C>T (p.His326=)
|
rs1479545854
|
0.00002
|
|
NM_006440.5(TXNRD2):c.1086+11C>T
|
rs369332144
|
0.00002
|
|
NM_006440.5(TXNRD2):c.1087-8T>C
|
rs1000041198
|
0.00002
|
|
NM_006440.5(TXNRD2):c.1113G>A (p.Ala371=)
|
rs745421312
|
0.00002
|
|
NM_006440.5(TXNRD2):c.1122C>T (p.Ala374=)
|
rs780948248
|
0.00002
|
|
NM_006440.5(TXNRD2):c.1152C>T (p.Gly384=)
|
rs766934707
|
0.00002
|
|
NM_006440.5(TXNRD2):c.1398T>C (p.Leu466=)
|
rs781691483
|
0.00002
|
|
NM_006440.5(TXNRD2):c.230-9A>G
|
rs368172149
|
0.00002
|
|
NM_006440.5(TXNRD2):c.529-5C>T
|
rs766288973
|
0.00002
|
|
NM_006440.5(TXNRD2):c.918G>A (p.Thr306=)
|
rs763086193
|
0.00002
|
|
NM_006939.4(SOS2):c.1392C>T (p.Gly464=)
|
rs188355135
|
0.00002
|
|
NM_006939.4(SOS2):c.156T>A (p.Ile52=)
|
rs1343609817
|
0.00002
|
|
NM_006939.4(SOS2):c.1669T>C (p.Leu557=)
|
rs370600053
|
0.00002
|
|
NM_006939.4(SOS2):c.2049A>G (p.Val683=)
|
rs748361433
|
0.00002
|
|
NM_006939.4(SOS2):c.2115C>T (p.Asp705=)
|
rs761930547
|
0.00002
|
|
NM_006939.4(SOS2):c.2191A>G (p.Ile731Val)
|
rs746664310
|
0.00002
|
|
NM_006939.4(SOS2):c.2350C>T (p.Arg784Cys)
|
rs760520078
|
0.00002
|
|
NM_006939.4(SOS2):c.2541G>A (p.Val847=)
|
rs1884432722
|
0.00002
|
|
NM_006939.4(SOS2):c.2786-5dup
|
rs768715951
|
0.00002
|
|
NM_006939.4(SOS2):c.3339C>T (p.Gly1113=)
|
rs756164627
|
0.00002
|
|
NM_006939.4(SOS2):c.3380-16T>A
|
rs1174938001
|
0.00002
|
|
NM_006939.4(SOS2):c.3495T>C (p.Asn1165=)
|
rs756887073
|
0.00002
|
|
NM_006939.4(SOS2):c.3523A>G (p.Ile1175Val)
|
rs774571340
|
0.00002
|
|
NM_006939.4(SOS2):c.3547C>T (p.Pro1183Ser)
|
rs139401491
|
0.00002
|
|
NM_006939.4(SOS2):c.3681T>G (p.Phe1227Leu)
|
rs748607274
|
0.00002
|
|
NM_006939.4(SOS2):c.3735T>G (p.Asp1245Glu)
|
rs752525400
|
0.00002
|
|
NM_006939.4(SOS2):c.3758G>C (p.Ser1253Thr)
|
rs762593451
|
0.00002
|
|
NM_006939.4(SOS2):c.430T>C (p.Leu144=)
|
rs746938099
|
0.00002
|
|
NM_006939.4(SOS2):c.929A>G (p.Asn310Ser)
|
rs746412601
|
0.00002
|
|
NM_012082.4(ZFPM2):c.240G>T (p.Gly80=)
|
rs765866053
|
0.00002
|
|
NM_013266.4(CTNNA3):c.1176G>A (p.Thr392=)
|
rs138898184
|
0.00002
|
|
NM_013266.4(CTNNA3):c.1248G>A (p.Ala416=)
|
rs1046657762
|
0.00002
|
|
NM_013266.4(CTNNA3):c.1488C>T (p.Ala496=)
|
rs774425528
|
0.00002
|
|
NM_013266.4(CTNNA3):c.1531+10T>G
|
rs370348361
|
0.00002
|
|
NM_013266.4(CTNNA3):c.1695A>G (p.Glu565=)
|
rs755301482
|
0.00002
|
|
NM_013266.4(CTNNA3):c.1740T>C (p.Pro580=)
|
rs775370911
|
0.00002
|
|
NM_013266.4(CTNNA3):c.1885-16T>C
|
rs754598894
|
0.00002
|
|
NM_013266.4(CTNNA3):c.1885-9T>C
|
rs766156283
|
0.00002
|
|
NM_013266.4(CTNNA3):c.2647T>C (p.Leu883=)
|
rs751884087
|
0.00002
|
|
NM_013266.4(CTNNA3):c.66C>T (p.Thr22=)
|
rs761454862
|
0.00002
|
|
NM_013266.4(CTNNA3):c.843+7C>T
|
rs1479648857
|
0.00002
|
|
NM_013266.4(CTNNA3):c.894A>G (p.Pro298=)
|
rs1219455652
|
0.00002
|
|
NM_013266.4(CTNNA3):c.945G>A (p.Ala315=)
|
rs375992799
|
0.00002
|
|
NM_014000.3(VCL):c.1023-15G>A
|
rs753458587
|
0.00002
|
|
NM_014000.3(VCL):c.1170T>C (p.Ala390=)
|
rs201459260
|
0.00002
|
|
NM_014000.3(VCL):c.1260A>G (p.Glu420=)
|
rs776212479
|
0.00002
|
|
NM_014000.3(VCL):c.1404G>A (p.Thr468=)
|
rs772104870
|
0.00002
|
|
NM_014000.3(VCL):c.1857G>A (p.Ala619=)
|
rs1402201354
|
0.00002
|
|
NM_014000.3(VCL):c.239+9T>C
|
rs574769425
|
0.00002
|
|
NM_014000.3(VCL):c.2517G>A (p.Glu839=)
|
rs769004916
|
0.00002
|
|
NM_014000.3(VCL):c.2670C>T (p.Ala890=)
|
rs748291846
|
0.00002
|
|
NM_014000.3(VCL):c.2745+8G>A
|
rs760209991
|
0.00002
|
|
NM_014000.3(VCL):c.2746-14C>T
|
rs367598954
|
0.00002
|
|
NM_014000.3(VCL):c.2847C>T (p.Tyr949=)
|
rs770857763
|
0.00002
|
|
NM_014000.3(VCL):c.2967A>G (p.Ala989=)
|
rs1010419468
|
0.00002
|
|
NM_014000.3(VCL):c.30G>A (p.Glu10=)
|
rs146750460
|
0.00002
|
|
NM_014000.3(VCL):c.3375C>T (p.Arg1125=)
|
rs12573090
|
0.00002
|
|
NM_014000.3(VCL):c.390+11T>G
|
rs764668318
|
0.00002
|
|
NM_014000.3(VCL):c.555G>A (p.Gln185=)
|
rs748428678
|
0.00002
|
|
NM_014000.3(VCL):c.582G>A (p.Ser194=)
|
rs773725513
|
0.00002
|
|
NM_014000.3(VCL):c.594G>C (p.Val198=)
|
rs1554816794
|
0.00002
|
|
NM_014000.3(VCL):c.622+7C>G
|
rs1316549585
|
0.00002
|
|
NM_014000.3(VCL):c.808T>C (p.Leu270=)
|
rs727505339
|
0.00002
|
|
NM_014000.3(VCL):c.99C>T (p.Asp33=)
|
rs568175141
|
0.00002
|
|
NM_014476.6(PDLIM3):c.114G>A (p.Ala38=)
|
rs377383830
|
0.00002
|
|
NM_014476.6(PDLIM3):c.330+7G>A
|
rs369445862
|
0.00002
|
|
NM_014476.6(PDLIM3):c.501G>A (p.Ala167=)
|
rs142771915
|
0.00002
|
|
NM_014476.6(PDLIM3):c.588G>A (p.Leu196=)
|
rs760087085
|
0.00002
|
|
NM_014476.6(PDLIM3):c.861G>A (p.Gly287=)
|
rs764585438
|
0.00002
|
|
NM_014908.4(DOLK):c.1326C>T (p.Ala442=)
|
rs762899278
|
0.00002
|
|
NM_014908.4(DOLK):c.1491G>A (p.Val497=)
|
rs749118990
|
0.00002
|
|
NM_014908.4(DOLK):c.885C>T (p.Asp295=)
|
rs762558659
|
0.00002
|
|
NM_015374.3(SUN2):c.1416C>T (p.Arg472=)
|
rs199929528
|
0.00002
|
|
NM_015374.3(SUN2):c.168G>A (p.Ala56=)
|
rs561928372
|
0.00002
|
|
NM_015374.3(SUN2):c.333G>A (p.Glu111=)
|
rs772494839
|
0.00002
|
|
NM_015374.3(SUN2):c.516G>A (p.Ser172=)
|
rs545823498
|
0.00002
|
|
NM_015374.3(SUN2):c.633G>A (p.Lys211=)
|
rs1347064197
|
0.00002
|
|
NM_015374.3(SUN2):c.741C>T (p.Ser247=)
|
rs1342698251
|
0.00002
|
|
NM_016203.4(PRKAG2):c.1005+13A>G
|
rs770683071
|
0.00002
|
|
NM_016203.4(PRKAG2):c.1107-7C>T
|
rs775881497
|
0.00002
|
|
NM_016203.4(PRKAG2):c.129C>T (p.Phe43=)
|
rs770946241
|
0.00002
|
|
NM_016203.4(PRKAG2):c.137C>A (p.Pro46Gln)
|
rs373477232
|
0.00002
|
|
NM_016203.4(PRKAG2):c.138G>A (p.Pro46=)
|
rs767613486
|
0.00002
|
|
NM_016203.4(PRKAG2):c.1437+7A>G
|
rs1489894918
|
0.00002
|
|
NM_016203.4(PRKAG2):c.201C>T (p.Phe67=)
|
rs759893229
|
0.00002
|
|
NM_016203.4(PRKAG2):c.356G>A (p.Arg119Gln)
|
rs142808871
|
0.00002
|
|
NM_016203.4(PRKAG2):c.432C>T (p.Pro144=)
|
rs764742900
|
0.00002
|
|
NM_016203.4(PRKAG2):c.433G>A (p.Gly145Arg)
|
rs886062101
|
0.00002
|
|
NM_016203.4(PRKAG2):c.454C>T (p.Arg152Cys)
|
rs752783859
|
0.00002
|
|
NM_016203.4(PRKAG2):c.618G>A (p.Pro206=)
|
rs145827515
|
0.00002
|
|
NM_016203.4(PRKAG2):c.635C>T (p.Pro212Leu)
|
rs749753053
|
0.00002
|
|
NM_016203.4(PRKAG2):c.642G>C (p.Arg214Ser)
|
rs757556996
|
0.00002
|
|
NM_016203.4(PRKAG2):c.685-5C>A
|
rs779931367
|
0.00002
|
|
NM_016203.4(PRKAG2):c.754+15C>T
|
rs760796110
|
0.00002
|
|
NM_016599.5(MYOZ2):c.150C>T (p.Leu50=)
|
rs750398714
|
0.00002
|
|
NM_016599.5(MYOZ2):c.504T>C (p.Pro168=)
|
rs769668877
|
0.00002
|
|
NM_016599.5(MYOZ2):c.76+8T>C
|
rs773231367
|
0.00002
|
|
NM_020297.4(ABCC9):c.1401G>A (p.Ala467=)
|
rs142219855
|
0.00002
|
|
NM_020297.4(ABCC9):c.2238-4T>C
|
rs770513703
|
0.00002
|
|
NM_020297.4(ABCC9):c.2769+13A>G
|
rs771938422
|
0.00002
|
|
NM_020297.4(ABCC9):c.2927A>T (p.Lys976Ile)
|
rs149319186
|
0.00002
|
|
NM_020297.4(ABCC9):c.3060G>A (p.Ser1020=)
|
rs769003781
|
0.00002
|
|
NM_020297.4(ABCC9):c.3096+7T>C
|
rs572074725
|
0.00002
|
|
NM_020297.4(ABCC9):c.3201T>C (p.Asn1067=)
|
rs761506474
|
0.00002
|
|
NM_020297.4(ABCC9):c.3324T>C (p.Pro1108=)
|
rs752156685
|
0.00002
|
|
NM_020297.4(ABCC9):c.3331T>C (p.Leu1111=)
|
rs764155671
|
0.00002
|
|
NM_020297.4(ABCC9):c.3462G>A (p.Arg1154=)
|
rs1336342134
|
0.00002
|
|
NM_020297.4(ABCC9):c.3492C>T (p.Asp1164=)
|
rs1030398826
|
0.00002
|
|
NM_020297.4(ABCC9):c.3567-14T>G
|
rs1432659325
|
0.00002
|
|
NM_020297.4(ABCC9):c.3933G>A (p.Glu1311=)
|
rs371193643
|
0.00002
|
|
NM_020297.4(ABCC9):c.4497C>T (p.Thr1499=)
|
rs1060504811
|
0.00002
|
|
NM_020297.4(ABCC9):c.4512+776C>T
|
rs776207326
|
0.00002
|
|
NM_020297.4(ABCC9):c.579T>C (p.Tyr193=)
|
rs755954331
|
0.00002
|
|
NM_020297.4(ABCC9):c.816+10C>T
|
rs559193279
|
0.00002
|
|
NM_020297.4(ABCC9):c.837A>G (p.Pro279=)
|
rs1264086698
|
0.00002
|
|
NM_020297.4(ABCC9):c.918G>A (p.Leu306=)
|
rs142115849
|
0.00002
|
|
NM_020297.4(ABCC9):c.928C>T (p.Leu310=)
|
rs747640613
|
0.00002
|
|
NM_020433.5(JPH2):c.1344C>T (p.Ser448=)
|
rs886038859
|
0.00002
|
|
NM_020433.5(JPH2):c.1497C>A (p.Pro499=)
|
rs1441785257
|
0.00002
|
|
NM_020433.5(JPH2):c.159C>T (p.Thr53=)
|
rs773186875
|
0.00002
|
|
NM_020433.5(JPH2):c.1851G>A (p.Glu617=)
|
rs759468707
|
0.00002
|
|
NM_020433.5(JPH2):c.1863G>A (p.Lys621=)
|
rs754623679
|
0.00002
|
|
NM_020433.5(JPH2):c.2055C>T (p.Ile685=)
|
rs184307455
|
0.00002
|
|
NM_020433.5(JPH2):c.306C>T (p.Ser102=)
|
rs779455211
|
0.00002
|
|
NM_020433.5(JPH2):c.30T>C (p.Asp10=)
|
rs749155813
|
0.00002
|
|
NM_020433.5(JPH2):c.612C>T (p.Leu204=)
|
rs922166422
|
0.00002
|
|
NM_020433.5(JPH2):c.633C>T (p.Ala211=)
|
rs1372602717
|
0.00002
|
|
NM_020433.5(JPH2):c.820G>A (p.Asp274Asn)
|
rs376694047
|
0.00002
|
|
NM_020433.5(JPH2):c.909C>T (p.Phe303=)
|
rs199637403
|
0.00002
|
|
NM_021167.5(GATAD1):c.156T>A (p.Thr52=)
|
rs1354851656
|
0.00002
|
|
NM_021167.5(GATAD1):c.375+18A>G
|
rs553955343
|
0.00002
|
|
NM_021167.5(GATAD1):c.477T>C (p.Asp159=)
|
rs377491014
|
0.00002
|
|
NM_022114.4(PRDM16):c.108C>T (p.Asp36=)
|
rs770557050
|
0.00002
|
|
NM_022114.4(PRDM16):c.1098C>T (p.His366=)
|
rs764582197
|
0.00002
|
|
NM_022114.4(PRDM16):c.1116G>A (p.Gly372=)
|
rs757093442
|
0.00002
|
|
NM_022114.4(PRDM16):c.1152C>T (p.His384=)
|
rs1014743652
|
0.00002
|
|
NM_022114.4(PRDM16):c.1170G>A (p.Thr390=)
|
rs374263452
|
0.00002
|
|
NM_022114.4(PRDM16):c.1446C>T (p.Ser482=)
|
rs776196845
|
0.00002
|
|
NM_022114.4(PRDM16):c.1506G>A (p.Thr502=)
|
rs375543158
|
0.00002
|
|
NM_022114.4(PRDM16):c.1563C>G (p.Ser521=)
|
rs1355664737
|
0.00002
|
|
NM_022114.4(PRDM16):c.1665C>A (p.Ala555=)
|
rs768209040
|
0.00002
|
|
NM_022114.4(PRDM16):c.1737C>T (p.Phe579=)
|
rs35579804
|
0.00002
|
|
NM_022114.4(PRDM16):c.2088C>T (p.Ile696=)
|
rs755442577
|
0.00002
|
|
NM_022114.4(PRDM16):c.2265A>G (p.Pro755=)
|
rs374005215
|
0.00002
|
|
NM_022114.4(PRDM16):c.2307C>T (p.Ala769=)
|
rs746000528
|
0.00002
|
|
NM_022114.4(PRDM16):c.2451C>T (p.Gly817=)
|
rs757162475
|
0.00002
|
|
NM_022114.4(PRDM16):c.2493C>A (p.Arg831=)
|
rs1185762574
|
0.00002
|
|
NM_022114.4(PRDM16):c.2667G>A (p.Pro889=)
|
rs774537766
|
0.00002
|
|
NM_022114.4(PRDM16):c.2754G>A (p.Ser918=)
|
rs1319181975
|
0.00002
|
|
NM_022114.4(PRDM16):c.2916G>A (p.Thr972=)
|
rs537121344
|
0.00002
|
|
NM_022114.4(PRDM16):c.3177G>A (p.Ser1059=)
|
rs576168703
|
0.00002
|
|
NM_022114.4(PRDM16):c.3284+14C>T
|
rs201774450
|
0.00002
|
|
NM_022114.4(PRDM16):c.3351C>T (p.Asp1117=)
|
rs936932210
|
0.00002
|
|
NM_022114.4(PRDM16):c.3387C>T (p.Asp1129=)
|
rs1435855185
|
0.00002
|
|
NM_022114.4(PRDM16):c.360G>A (p.Ala120=)
|
rs775922979
|
0.00002
|
|
NM_022114.4(PRDM16):c.489G>A (p.Ala163=)
|
rs746338723
|
0.00002
|
|
NM_022114.4(PRDM16):c.801G>A (p.Glu267=)
|
rs369972213
|
0.00002
|
|
NM_022114.4(PRDM16):c.884+8_884+38del
|
rs1643499408
|
0.00002
|
|
NM_024334.3(TMEM43):c.1000+16G>A
|
rs377252553
|
0.00002
|
|
NM_024334.3(TMEM43):c.1001-7T>C
|
rs781382808
|
0.00002
|
|
NM_024334.3(TMEM43):c.1140C>T (p.Ala380=)
|
rs1055842863
|
0.00002
|
|
NM_024334.3(TMEM43):c.216G>A (p.Val72=)
|
rs943527392
|
0.00002
|
|
NM_024334.3(TMEM43):c.323T>C (p.Val108Ala)
|
rs182351748
|
0.00002
|
|
NM_024334.3(TMEM43):c.468C>T (p.Ile156=)
|
rs769654404
|
0.00002
|
|
NM_024334.3(TMEM43):c.600C>T (p.Val200=)
|
rs760323011
|
0.00002
|
|
NM_024334.3(TMEM43):c.601G>A (p.Asp201Asn)
|
rs138182276
|
0.00002
|
|
NM_024334.3(TMEM43):c.747C>T (p.Ser249=)
|
rs549809535
|
0.00002
|
|
NM_024334.3(TMEM43):c.781-4C>T
|
rs1445555724
|
0.00002
|
|
NM_024422.6(DSC2):c.1263+10A>G
|
rs1462640047
|
0.00002
|
|
NM_024422.6(DSC2):c.1401G>A (p.Glu467=)
|
rs977781359
|
0.00002
|
|
NM_024422.6(DSC2):c.1875G>C (p.Leu625=)
|
rs142594406
|
0.00002
|
|
NM_024422.6(DSC2):c.1986T>G (p.Thr662=)
|
rs757613258
|
0.00002
|
|
NM_024422.6(DSC2):c.2031C>T (p.Cys677=)
|
rs754488475
|
0.00002
|
|
NM_024422.6(DSC2):c.2126-20A>T
|
rs779297158
|
0.00002
|
|
NM_024422.6(DSC2):c.2163G>A (p.Thr721=)
|
rs773220437
|
0.00002
|
|
NM_024422.6(DSC2):c.2571T>C (p.Tyr857=)
|
rs370144781
|
0.00002
|
|
NM_024422.6(DSC2):c.27C>T (p.Ser9=)
|
rs1406804472
|
0.00002
|
|
NM_024422.6(DSC2):c.324A>G (p.Lys108=)
|
rs779651366
|
0.00002
|
|
NM_024422.6(DSC2):c.360A>G (p.Leu120=)
|
rs375772629
|
0.00002
|
|
NM_024422.6(DSC2):c.489G>A (p.Thr163=)
|
rs752952811
|
0.00002
|
|
NM_024422.6(DSC2):c.69+9A>G
|
rs1268711423
|
0.00002
|
|
NM_024422.6(DSC2):c.750T>C (p.Phe250=)
|
rs781667894
|
0.00002
|
|
NM_032578.4(MYPN):c.1200A>G (p.Gln400=)
|
rs768030641
|
0.00002
|
|
NM_032578.4(MYPN):c.1317+7A>C
|
rs751723015
|
0.00002
|
|
NM_032578.4(MYPN):c.1593C>T (p.His531=)
|
rs138354021
|
0.00002
|
|
NM_032578.4(MYPN):c.1737G>A (p.Glu579=)
|
rs1217740747
|
0.00002
|
|
NM_032578.4(MYPN):c.3039C>T (p.Asp1013=)
|
rs748080770
|
0.00002
|
|
NM_032578.4(MYPN):c.336T>C (p.Ser112=)
|
rs769858127
|
0.00002
|
|
NM_032578.4(MYPN):c.3711G>A (p.Lys1237=)
|
rs773992843
|
0.00002
|
|
NM_032578.4(MYPN):c.3924A>G (p.Ser1308=)
|
rs1225365091
|
0.00002
|
|
NM_032578.4(MYPN):c.588C>T (p.Ser196=)
|
rs753313639
|
0.00002
|
|
NM_032578.4(MYPN):c.642T>C (p.Pro214=)
|
rs769861237
|
0.00002
|
|
NM_032578.4(MYPN):c.948C>T (p.His316=)
|
rs200674758
|
0.00002
|
|
NM_033118.4(MYLK2):c.1082+19G>A
|
rs745498112
|
0.00002
|
|
NM_033118.4(MYLK2):c.1083-4A>G
|
rs369435472
|
0.00002
|
|
NM_033118.4(MYLK2):c.1086C>T (p.Ile362=)
|
rs188352991
|
0.00002
|
|
NM_033118.4(MYLK2):c.1284C>T (p.Gly428=)
|
rs727503305
|
0.00002
|
|
NM_033118.4(MYLK2):c.1424+13G>A
|
rs371900250
|
0.00002
|
|
NM_033118.4(MYLK2):c.1424+15G>A
|
rs762322372
|
0.00002
|
|
NM_033118.4(MYLK2):c.1424+20G>A
|
rs375290219
|
0.00002
|
|
NM_033118.4(MYLK2):c.1578-17T>C
|
rs892663559
|
0.00002
|
|
NM_033118.4(MYLK2):c.1773G>T (p.Leu591=)
|
rs757802556
|
0.00002
|
|
NM_033118.4(MYLK2):c.474-7C>T
|
rs773417120
|
0.00002
|
|
NM_033118.4(MYLK2):c.675G>A (p.Ser225=)
|
rs753309061
|
0.00002
|
|
NM_033118.4(MYLK2):c.870G>A (p.Ala290=)
|
rs1037625331
|
0.00002
|
|
NM_033118.4(MYLK2):c.891G>A (p.Gly297=)
|
rs886056578
|
0.00002
|
|
NM_033118.4(MYLK2):c.933G>C (p.Leu311=)
|
rs146745888
|
0.00002
|
|
NM_144573.4(NEXN):c.1368A>C (p.Gly456=)
|
rs397517845
|
0.00002
|
|
NM_144573.4(NEXN):c.1651C>T (p.Leu551=)
|
rs1346328853
|
0.00002
|
|
NM_144573.4(NEXN):c.507A>G (p.Leu169=)
|
rs776106290
|
0.00002
|
|
NM_145046.5(CALR3):c.1110G>A (p.Arg370=)
|
rs774421614
|
0.00002
|
|
NM_145046.5(CALR3):c.249G>A (p.Pro83=)
|
rs570064234
|
0.00002
|
|
NM_145046.5(CALR3):c.398-11C>A
|
rs546157618
|
0.00002
|
|
NM_145046.5(CALR3):c.627G>A (p.Thr209=)
|
rs777454147
|
0.00002
|
|
NM_145046.5(CALR3):c.648T>C (p.Asp216=)
|
rs372889302
|
0.00002
|
|
NM_145046.5(CALR3):c.732C>T (p.Asn244=)
|
rs201198066
|
0.00002
|
|
NM_152594.3(SPRED1):c.1005C>T (p.Cys335=)
|
rs768937237
|
0.00002
|
|
NM_152594.3(SPRED1):c.1080A>G (p.Lys360=)
|
rs749654043
|
0.00002
|
|
NM_152594.3(SPRED1):c.207+11A>T
|
rs755730953
|
0.00002
|
|
NM_152594.3(SPRED1):c.426A>G (p.Ala142=)
|
rs753701682
|
0.00002
|
|
NM_152594.3(SPRED1):c.633C>T (p.Tyr211=)
|
rs149991304
|
0.00002
|
|
NM_152594.3(SPRED1):c.685-17A>G
|
rs1223645192
|
0.00002
|
|
NM_152594.3(SPRED1):c.687C>A (p.Val229=)
|
rs376226762
|
0.00002
|
|
NM_181703.4(GJA5):c.342C>G (p.Ala114=)
|
rs886045251
|
0.00002
|
|
NM_181703.4(GJA5):c.378G>A (p.Pro126=)
|
rs112980895
|
0.00002
|
|
NM_181703.4(GJA5):c.867C>T (p.Ser289=)
|
rs782795886
|
0.00002
|
|
NM_182914.3(SYNE2):c.10697+20A>G
|
rs754817209
|
0.00002
|
|
NM_182914.3(SYNE2):c.11175C>T (p.Asp3725=)
|
rs138545972
|
0.00002
|
|
NM_182914.3(SYNE2):c.1129-4T>C
|
rs1231962702
|
0.00002
|
|
NM_182914.3(SYNE2):c.1257C>T (p.Ala419=)
|
rs1308417745
|
0.00002
|
|
NM_182914.3(SYNE2):c.12609+20A>T
|
rs1005221695
|
0.00002
|
|
NM_182914.3(SYNE2):c.12942G>A (p.Ala4314=)
|
rs762957203
|
0.00002
|
|
NM_182914.3(SYNE2):c.13422+11_13422+15dup
|
rs1334187345
|
0.00002
|
|
NM_182914.3(SYNE2):c.13918-13A>G
|
rs775576281
|
0.00002
|
|
NM_182914.3(SYNE2):c.14700C>T (p.Asn4900=)
|
rs372676140
|
0.00002
|
|
NM_182914.3(SYNE2):c.14721G>T (p.Ala4907=)
|
rs547898559
|
0.00002
|
|
NM_182914.3(SYNE2):c.14976+15C>T
|
rs764391251
|
0.00002
|
|
NM_182914.3(SYNE2):c.15444C>T (p.Asn5148=)
|
rs771629482
|
0.00002
|
|
NM_182914.3(SYNE2):c.15612A>C (p.Ser5204=)
|
rs200252872
|
0.00002
|
|
NM_182914.3(SYNE2):c.15888C>T (p.Phe5296=)
|
rs772838959
|
0.00002
|
|
NM_182914.3(SYNE2):c.16023C>T (p.Ile5341=)
|
rs201645739
|
0.00002
|
|
NM_182914.3(SYNE2):c.16701G>A (p.Thr5567=)
|
rs200950664
|
0.00002
|
|
NM_182914.3(SYNE2):c.16782G>A (p.Leu5594=)
|
rs540356646
|
0.00002
|
|
NM_182914.3(SYNE2):c.17529C>T (p.Asp5843=)
|
rs1166564255
|
0.00002
|
|
NM_182914.3(SYNE2):c.17557-6A>T
|
rs775211172
|
0.00002
|
|
NM_182914.3(SYNE2):c.17623T>C (p.Leu5875=)
|
rs370682788
|
0.00002
|
|
NM_182914.3(SYNE2):c.17691A>G (p.Gln5897=)
|
rs971473774
|
0.00002
|
|
NM_182914.3(SYNE2):c.17823A>G (p.Leu5941=)
|
rs766073729
|
0.00002
|
|
NM_182914.3(SYNE2):c.18054G>A (p.Lys6018=)
|
rs752686051
|
0.00002
|
|
NM_182914.3(SYNE2):c.18276C>T (p.His6092=)
|
rs1006988639
|
0.00002
|
|
NM_182914.3(SYNE2):c.18282C>T (p.Ser6094=)
|
rs201056822
|
0.00002
|
|
NM_182914.3(SYNE2):c.18564G>A (p.Glu6188=)
|
rs766542908
|
0.00002
|
|
NM_182914.3(SYNE2):c.18660C>T (p.His6220=)
|
rs757875136
|
0.00002
|
|
NM_182914.3(SYNE2):c.19152C>T (p.Ser6384=)
|
rs777311548
|
0.00002
|
|
NM_182914.3(SYNE2):c.19272C>T (p.Asp6424=)
|
rs774346816
|
0.00002
|
|
NM_182914.3(SYNE2):c.19293C>T (p.His6431=)
|
rs149178992
|
0.00002
|
|
NM_182914.3(SYNE2):c.19569G>A (p.Thr6523=)
|
rs376821513
|
0.00002
|
|
NM_182914.3(SYNE2):c.19658-15A>G
|
rs767490912
|
0.00002
|
|
NM_182914.3(SYNE2):c.20154C>A (p.Asp6718Glu)
|
rs201738236
|
0.00002
|
|
NM_182914.3(SYNE2):c.20516+16C>T
|
rs548855641
|
0.00002
|
|
NM_182914.3(SYNE2):c.20523C>T (p.Pro6841=)
|
rs751852545
|
0.00002
|
|
NM_182914.3(SYNE2):c.20592C>G (p.Leu6864=)
|
rs879099788
|
0.00002
|
|
NM_182914.3(SYNE2):c.2499G>A (p.Ala833=)
|
rs761478156
|
0.00002
|
|
NM_182914.3(SYNE2):c.3710C>T (p.Ser1237Leu)
|
rs200305811
|
0.00002
|
|
NM_182914.3(SYNE2):c.4285C>T (p.Leu1429=)
|
rs761375106
|
0.00002
|
|
NM_182914.3(SYNE2):c.4689G>A (p.Ser1563=)
|
rs372617436
|
0.00002
|
|
NM_182914.3(SYNE2):c.5121C>T (p.Leu1707=)
|
rs199819734
|
0.00002
|
|
NM_182914.3(SYNE2):c.5525-11T>C
|
rs1186914371
|
0.00002
|
|
NM_182914.3(SYNE2):c.5960+13T>C
|
rs377327088
|
0.00002
|
|
NM_182914.3(SYNE2):c.6555T>C (p.Tyr2185=)
|
rs112241770
|
0.00002
|
|
NM_182914.3(SYNE2):c.6588A>G (p.Thr2196=)
|
rs367788980
|
0.00002
|
|
NM_182914.3(SYNE2):c.7248A>G (p.Ser2416=)
|
rs1440802099
|
0.00002
|
|
NM_182914.3(SYNE2):c.7266T>C (p.Asn2422=)
|
rs747796543
|
0.00002
|
|
NM_182914.3(SYNE2):c.7695A>C (p.Ala2565=)
|
rs373434720
|
0.00002
|
|
NM_182914.3(SYNE2):c.8424A>G (p.Leu2808=)
|
rs751330977
|
0.00002
|
|
NM_182914.3(SYNE2):c.8598G>A (p.Thr2866=)
|
rs199771856
|
0.00002
|
|
NM_182914.3(SYNE2):c.8928T>C (p.Gly2976=)
|
rs373828834
|
0.00002
|
|
NM_182914.3(SYNE2):c.8991G>A (p.Gln2997=)
|
rs773209564
|
0.00002
|
|
NM_182914.3(SYNE2):c.9088G>A (p.Glu3030Lys)
|
rs60466225
|
0.00002
|
|
NM_182914.3(SYNE2):c.9140A>G (p.Lys3047Arg)
|
rs201471505
|
0.00002
|
|
NM_182914.3(SYNE2):c.939A>G (p.Leu313=)
|
rs369246311
|
0.00002
|
|
NM_182914.3(SYNE2):c.9778C>T (p.Arg3260Cys)
|
rs570116954
|
0.00002
|
|
NM_182961.4(SYNE1):c.114C>T (p.Asn38=)
|
rs150562892
|
0.00002
|
|
NM_182961.4(SYNE1):c.123G>A (p.Leu41=)
|
rs757646961
|
0.00002
|
|
NM_182961.4(SYNE1):c.12529-11T>G
|
rs886977669
|
0.00002
|
|
NM_182961.4(SYNE1):c.1305C>T (p.His435=)
|
rs539575253
|
0.00002
|
|
NM_182961.4(SYNE1):c.13209G>A (p.Ser4403=)
|
rs773593843
|
0.00002
|
|
NM_182961.4(SYNE1):c.13299C>T (p.His4433=)
|
rs763090658
|
0.00002
|
|
NM_182961.4(SYNE1):c.14349C>T (p.His4783=)
|
rs767810691
|
0.00002
|
|
NM_182961.4(SYNE1):c.15399G>A (p.Ser5133=)
|
rs761249756
|
0.00002
|
|
NM_182961.4(SYNE1):c.15918C>T (p.Asn5306=)
|
rs1354133843
|
0.00002
|
|
NM_182961.4(SYNE1):c.15942T>C (p.Asn5314=)
|
rs555697165
|
0.00002
|
|
NM_182961.4(SYNE1):c.16167T>C (p.Tyr5389=)
|
rs200796273
|
0.00002
|
|
NM_182961.4(SYNE1):c.16198T>C (p.Leu5400=)
|
rs541916760
|
0.00002
|
|
NM_182961.4(SYNE1):c.16237-13del
|
rs758437735
|
0.00002
|
|
NM_182961.4(SYNE1):c.16897-13A>G
|
rs754825945
|
0.00002
|
|
NM_182961.4(SYNE1):c.17847T>C (p.Asn5949=)
|
rs755030815
|
0.00002
|
|
NM_182961.4(SYNE1):c.17850+19del
|
rs1362611063
|
0.00002
|
|
NM_182961.4(SYNE1):c.18441T>C (p.Asn6147=)
|
rs558367406
|
0.00002
|
|
NM_182961.4(SYNE1):c.18507G>A (p.Leu6169=)
|
rs1194007387
|
0.00002
|
|
NM_182961.4(SYNE1):c.18621G>A (p.Thr6207=)
|
rs754877966
|
0.00002
|
|
NM_182961.4(SYNE1):c.18633C>T (p.Gly6211=)
|
rs755740458
|
0.00002
|
|
NM_182961.4(SYNE1):c.19471-17G>A
|
rs764198291
|
0.00002
|
|
NM_182961.4(SYNE1):c.20607A>G (p.Leu6869=)
|
rs752269968
|
0.00002
|
|
NM_182961.4(SYNE1):c.20712+7A>T
|
rs776363510
|
0.00002
|
|
NM_182961.4(SYNE1):c.20862+17G>A
|
rs755276403
|
0.00002
|
|
NM_182961.4(SYNE1):c.21465A>T (p.Arg7155=)
|
rs781552217
|
0.00002
|
|
NM_182961.4(SYNE1):c.2286A>G (p.Gln762=)
|
rs375103550
|
0.00002
|
|
NM_182961.4(SYNE1):c.23020-5G>A
|
rs754289166
|
0.00002
|
|
NM_182961.4(SYNE1):c.23103G>A (p.Pro7701=)
|
rs752017186
|
0.00002
|
|
NM_182961.4(SYNE1):c.23214C>G (p.Leu7738=)
|
rs543882781
|
0.00002
|
|
NM_182961.4(SYNE1):c.23355C>T (p.Phe7785=)
|
rs772418162
|
0.00002
|
|
NM_182961.4(SYNE1):c.23373A>G (p.Glu7791=)
|
rs993468538
|
0.00002
|
|
NM_182961.4(SYNE1):c.23978+11A>T
|
rs754355745
|
0.00002
|
|
NM_182961.4(SYNE1):c.24313-8C>T
|
rs201008999
|
0.00002
|
|
NM_182961.4(SYNE1):c.24450+9T>C
|
rs746934542
|
0.00002
|
|
NM_182961.4(SYNE1):c.25246+17C>T
|
rs772625869
|
0.00002
|
|
NM_182961.4(SYNE1):c.25515C>T (p.Cys8505=)
|
rs144459490
|
0.00002
|
|
NM_182961.4(SYNE1):c.25629C>T (p.Gly8543=)
|
rs201344762
|
0.00002
|
|
NM_182961.4(SYNE1):c.2892+8C>T
|
rs374408461
|
0.00002
|
|
NM_182961.4(SYNE1):c.3465C>T (p.Ile1155=)
|
rs770210620
|
0.00002
|
|
NM_182961.4(SYNE1):c.3473C>T (p.Ala1158Val)
|
rs746060505
|
0.00002
|
|
NM_182961.4(SYNE1):c.3657G>A (p.Thr1219=)
|
rs756713928
|
0.00002
|
|
NM_182961.4(SYNE1):c.3837+8T>C
|
rs377391406
|
0.00002
|
|
NM_182961.4(SYNE1):c.4008+16T>C
|
rs763851876
|
0.00002
|
|
NM_182961.4(SYNE1):c.4059A>G (p.Val1353=)
|
rs769854299
|
0.00002
|
|
NM_182961.4(SYNE1):c.4299G>A (p.Thr1433=)
|
rs528090478
|
0.00002
|
|
NM_182961.4(SYNE1):c.4461+14A>T
|
rs554281097
|
0.00002
|
|
NM_182961.4(SYNE1):c.4821C>T (p.Ser1607=)
|
rs754445939
|
0.00002
|
|
NM_182961.4(SYNE1):c.4908C>T (p.Tyr1636=)
|
rs771955377
|
0.00002
|
|
NM_182961.4(SYNE1):c.581+10_581+11del
|
rs1429057946
|
0.00002
|
|
NM_182961.4(SYNE1):c.582-6A>G
|
rs199728167
|
0.00002
|
|
NM_182961.4(SYNE1):c.6933G>A (p.Lys2311=)
|
rs375127604
|
0.00002
|
|
NM_182961.4(SYNE1):c.8373C>T (p.His2791=)
|
rs1465961867
|
0.00002
|
|
NM_182961.4(SYNE1):c.8562T>C (p.Asp2854=)
|
rs757737346
|
0.00002
|
|
NM_182961.4(SYNE1):c.8568C>G (p.Leu2856=)
|
rs143105336
|
0.00002
|
|
NM_182961.4(SYNE1):c.8784C>T (p.Ala2928=)
|
rs759200516
|
0.00002
|
|
NM_182961.4(SYNE1):c.9630G>A (p.Arg3210=)
|
rs757280513
|
0.00002
|
|
NM_182961.4(SYNE1):c.9960G>A (p.Thr3320=)
|
rs747731841
|
0.00002
|
|
NM_182961.4(SYNE1):c.9973-16G>C
|
rs1200216933
|
0.00002
|
|
NM_000018.4(ACADVL):c.1050T>C (p.Gly350=)
|
rs752314368
|
0.00001
|
|
NM_000018.4(ACADVL):c.1077+8C>T
|
rs938844412
|
0.00001
|
|
NM_000018.4(ACADVL):c.1083T>C (p.Asp361=)
|
rs770917473
|
0.00001
|
|
NM_000018.4(ACADVL):c.1089C>A (p.Ala363=)
|
rs774273664
|
0.00001
|
|
NM_000018.4(ACADVL):c.1101C>T (p.Thr367=)
|
rs1179669157
|
0.00001
|
|
NM_000018.4(ACADVL):c.111G>A (p.Arg37=)
|
rs755803798
|
0.00001
|
|
NM_000018.4(ACADVL):c.1125C>T (p.Asn375=)
|
rs1349423150
|
0.00001
|
|
NM_000018.4(ACADVL):c.117C>T (p.Pro39=)
|
rs370883584
|
0.00001
|
|
NM_000018.4(ACADVL):c.1183-6C>T
|
rs1184450028
|
0.00001
|
|
NM_000018.4(ACADVL):c.123C>T (p.Ala41=)
|
rs778217628
|
0.00001
|
|
NM_000018.4(ACADVL):c.1245C>T (p.Ala415=)
|
rs1481416358
|
0.00001
|
|
NM_000018.4(ACADVL):c.1269+18C>G
|
rs1567567226
|
0.00001
|
|
NM_000018.4(ACADVL):c.1302C>A (p.Ile434=)
|
rs1469316904
|
0.00001
|
|
NM_000018.4(ACADVL):c.132C>G (p.Ala44=)
|
rs1237892223
|
0.00001
|
|
NM_000018.4(ACADVL):c.1332+9C>T
|
rs376427620
|
0.00001
|
|
NM_000018.4(ACADVL):c.1333-4C>T
|
rs1393726040
|
0.00001
|
|
NM_000018.4(ACADVL):c.1333-7G>T
|
rs1228196483
|
0.00001
|
|
NM_000018.4(ACADVL):c.1341A>G (p.Gly447=)
|
rs1484763411
|
0.00001
|
|
NM_000018.4(ACADVL):c.139-10C>T
|
rs747439748
|
0.00001
|
|
NM_000018.4(ACADVL):c.1408C>T (p.Leu470=)
|
rs1335872701
|
0.00001
|
|
NM_000018.4(ACADVL):c.1410G>A (p.Leu470=)
|
rs1281251073
|
0.00001
|
|
NM_000018.4(ACADVL):c.1494T>G (p.Ala498=)
|
rs756867868
|
0.00001
|
|
NM_000018.4(ACADVL):c.1515A>C (p.Ala505=)
|
rs781153542
|
0.00001
|
|
NM_000018.4(ACADVL):c.1532+10G>C
|
rs775913504
|
0.00001
|
|
NM_000018.4(ACADVL):c.1551C>T (p.Ser517=)
|
rs926496616
|
0.00001
|
|
NM_000018.4(ACADVL):c.1569A>G (p.Gly523=)
|
rs779048354
|
0.00001
|
|
NM_000018.4(ACADVL):c.1575C>A (p.Val525=)
|
rs745996278
|
0.00001
|
|
NM_000018.4(ACADVL):c.1599C>T (p.Gly533=)
|
rs779770406
|
0.00001
|
|
NM_000018.4(ACADVL):c.1678+16A>G
|
rs768350660
|
0.00001
|
|
NM_000018.4(ACADVL):c.1678+9G>A
|
rs775156404
|
0.00001
|
|
NM_000018.4(ACADVL):c.1751+7A>T
|
rs1438741226
|
0.00001
|
|
NM_000018.4(ACADVL):c.1827+10G>A
|
rs766755156
|
0.00001
|
|
NM_000018.4(ACADVL):c.1827+9C>T
|
rs372630480
|
0.00001
|
|
NM_000018.4(ACADVL):c.1848G>A (p.Glu616=)
|
rs372886650
|
0.00001
|
|
NM_000018.4(ACADVL):c.1893C>T (p.Tyr631=)
|
rs780006187
|
0.00001
|
|
NM_000018.4(ACADVL):c.201G>A (p.Lys67=)
|
rs753577095
|
0.00001
|
|
NM_000018.4(ACADVL):c.204+15G>A
|
rs1404625751
|
0.00001
|
|
NM_000018.4(ACADVL):c.204+16G>A
|
rs780773899
|
0.00001
|
|
NM_000018.4(ACADVL):c.205-15C>T
|
rs1567560898
|
0.00001
|
|
NM_000018.4(ACADVL):c.216C>T (p.Ser72=)
|
rs761492981
|
0.00001
|
|
NM_000018.4(ACADVL):c.270C>T (p.Tyr90=)
|
rs749482177
|
0.00001
|
|
NM_000018.4(ACADVL):c.277+7G>C
|
rs1405587459
|
0.00001
|
|
NM_000018.4(ACADVL):c.278-5T>C
|
rs780118841
|
0.00001
|
|
NM_000018.4(ACADVL):c.278-6C>T
|
rs1008843538
|
0.00001
|
|
NM_000018.4(ACADVL):c.278-7T>C
|
rs758471890
|
0.00001
|
|
NM_000018.4(ACADVL):c.278-8C>T
|
rs1178133251
|
0.00001
|
|
NM_000018.4(ACADVL):c.279G>A (p.Val93=)
|
rs748048602
|
0.00001
|
|
NM_000018.4(ACADVL):c.285C>T (p.Asn95=)
|
rs769723013
|
0.00001
|
|
NM_000018.4(ACADVL):c.339C>T (p.Phe113=)
|
rs750653177
|
0.00001
|
|
NM_000018.4(ACADVL):c.33G>A (p.Gly11=)
|
rs975427927
|
0.00001
|
|
NM_000018.4(ACADVL):c.342+10G>T
|
rs1226688830
|
0.00001
|
|
NM_000018.4(ACADVL):c.342+16G>C
|
rs536497611
|
0.00001
|
|
NM_000018.4(ACADVL):c.342+18G>A
|
rs372594520
|
0.00001
|
|
NM_000018.4(ACADVL):c.343-13G>A
|
rs1250954751
|
0.00001
|
|
NM_000018.4(ACADVL):c.343-19G>A
|
rs2090623176
|
0.00001
|
|
NM_000018.4(ACADVL):c.393C>G (p.Thr131=)
|
rs754931255
|
0.00001
|
|
NM_000018.4(ACADVL):c.432G>C (p.Leu144=)
|
rs778968978
|
0.00001
|
|
NM_000018.4(ACADVL):c.456T>C (p.Gly152=)
|
rs1009994523
|
0.00001
|
|
NM_000018.4(ACADVL):c.477+14A>G
|
rs1483410961
|
0.00001
|
|
NM_000018.4(ACADVL):c.477+14_477+16del
|
rs767953226
|
0.00001
|
|
NM_000018.4(ACADVL):c.480C>T (p.Tyr160=)
|
rs371910495
|
0.00001
|
|
NM_000018.4(ACADVL):c.483C>A (p.Ala161=)
|
rs573137772
|
0.00001
|
|
NM_000018.4(ACADVL):c.51C>T (p.Leu17=)
|
rs376733533
|
0.00001
|
|
NM_000018.4(ACADVL):c.531C>T (p.Thr177=)
|
rs2071228805
|
0.00001
|
|
NM_000018.4(ACADVL):c.532C>T (p.Leu178=)
|
rs376092908
|
0.00001
|
|
NM_000018.4(ACADVL):c.54G>A (p.Gly18=)
|
rs759918601
|
0.00001
|
|
NM_000018.4(ACADVL):c.552C>T (p.Ile184=)
|
rs770961747
|
0.00001
|
|
NM_000018.4(ACADVL):c.576T>C (p.Phe192=)
|
rs760355468
|
0.00001
|
|
NM_000018.4(ACADVL):c.62+20G>A
|
rs369163211
|
0.00001
|
|
NM_000018.4(ACADVL):c.622+20G>T
|
rs2071236387
|
0.00001
|
|
NM_000018.4(ACADVL):c.623-10T>C
|
rs1021636784
|
0.00001
|
|
NM_000018.4(ACADVL):c.651C>T (p.Thr217=)
|
rs764913196
|
0.00001
|
|
NM_000018.4(ACADVL):c.690C>T (p.Thr230=)
|
rs749436149
|
0.00001
|
|
NM_000018.4(ACADVL):c.78G>C (p.Ala26=)
|
rs1285117129
|
0.00001
|
|
NM_000018.4(ACADVL):c.828G>A (p.Lys276=)
|
rs986417874
|
0.00001
|
|
NM_000018.4(ACADVL):c.864C>T (p.Phe288=)
|
rs753748672
|
0.00001
|
|
NM_000018.4(ACADVL):c.867G>T (p.Gly289=)
|
rs745557512
|
0.00001
|
|
NM_000018.4(ACADVL):c.878+19G>C
|
rs1405611766
|
0.00001
|
|
NM_000018.4(ACADVL):c.878+8A>C
|
rs910644475
|
0.00001
|
|
NM_000018.4(ACADVL):c.879-16C>A
|
rs780626099
|
0.00001
|
|
NM_000018.4(ACADVL):c.882G>A (p.Gly294=)
|
rs1314252710
|
0.00001
|
|
NM_000018.4(ACADVL):c.894G>A (p.Lys298=)
|
rs749598830
|
0.00001
|
|
NM_000018.4(ACADVL):c.967C>T (p.Leu323=)
|
rs778134085
|
0.00001
|
|
NM_000018.4(ACADVL):c.969G>A (p.Leu323=)
|
rs749734276
|
0.00001
|
|
NM_000018.4(ACADVL):c.984T>C (p.Ser328=)
|
rs148803927
|
0.00001
|
|
NM_000018.4(ACADVL):c.999C>G (p.Ala333=)
|
rs760659262
|
0.00001
|
|
NM_000023.4(SGCA):c.1011C>T (p.Ile337=)
|
rs1209145667
|
0.00001
|
|
NM_000023.4(SGCA):c.1014C>T (p.His338=)
|
rs1273697097
|
0.00001
|
|
NM_000023.4(SGCA):c.1035G>A (p.Arg345=)
|
rs374989747
|
0.00001
|
|
NM_000023.4(SGCA):c.1083C>T (p.Pro361=)
|
rs763883513
|
0.00001
|
|
NM_000023.4(SGCA):c.108T>C (p.Phe36=)
|
rs755416307
|
0.00001
|
|
NM_000023.4(SGCA):c.1104T>C (p.Gly368=)
|
rs778379427
|
0.00001
|
|
NM_000023.4(SGCA):c.1128C>T (p.Asp376=)
|
rs748132102
|
0.00001
|
|
NM_000023.4(SGCA):c.1131C>T (p.Ser377=)
|
rs769951787
|
0.00001
|
|
NM_000023.4(SGCA):c.132G>A (p.Thr44=)
|
rs886044035
|
0.00001
|
|
NM_000023.4(SGCA):c.147T>C (p.Pro49=)
|
rs745447270
|
0.00001
|
|
NM_000023.4(SGCA):c.177C>T (p.His59=)
|
rs199902950
|
0.00001
|
|
NM_000023.4(SGCA):c.312+19A>C
|
rs527959287
|
0.00001
|
|
NM_000023.4(SGCA):c.313-5C>T
|
rs200973744
|
0.00001
|
|
NM_000023.4(SGCA):c.354G>A (p.Gln118=)
|
rs772233387
|
0.00001
|
|
NM_000023.4(SGCA):c.37+17T>A
|
rs1231057453
|
0.00001
|
|
NM_000023.4(SGCA):c.38-7C>T
|
rs769272010
|
0.00001
|
|
NM_000023.4(SGCA):c.38-8C>T
|
rs908186145
|
0.00001
|
|
NM_000023.4(SGCA):c.429C>T (p.His143=)
|
rs763446303
|
0.00001
|
|
NM_000023.4(SGCA):c.432T>C (p.Asp144=)
|
rs774960107
|
0.00001
|
|
NM_000023.4(SGCA):c.435G>A (p.Ala145=)
|
rs763694408
|
0.00001
|
|
NM_000023.4(SGCA):c.471C>T (p.Phe157=)
|
rs758384359
|
0.00001
|
|
NM_000023.4(SGCA):c.501C>T (p.Pro167=)
|
rs754962516
|
0.00001
|
|
NM_000023.4(SGCA):c.543T>A (p.Arg181=)
|
rs776214016
|
0.00001
|
|
NM_000023.4(SGCA):c.549C>T (p.Gly183=)
|
rs1300286751
|
0.00001
|
|
NM_000023.4(SGCA):c.555C>A (p.Val185=)
|
rs201518390
|
0.00001
|
|
NM_000023.4(SGCA):c.584+10C>T
|
rs937459293
|
0.00001
|
|
NM_000023.4(SGCA):c.584+16T>C
|
rs1054945327
|
0.00001
|
|
NM_000023.4(SGCA):c.591C>T (p.Tyr197=)
|
rs756137267
|
0.00001
|
|
NM_000023.4(SGCA):c.600G>A (p.Val200=)
|
rs764188161
|
0.00001
|
|
NM_000023.4(SGCA):c.63C>T (p.Thr21=)
|
rs775361706
|
0.00001
|
|
NM_000023.4(SGCA):c.705C>T (p.Thr235=)
|
rs1291296598
|
0.00001
|
|
NM_000023.4(SGCA):c.711A>C (p.Ala237=)
|
rs1207297075
|
0.00001
|
|
NM_000023.4(SGCA):c.72G>A (p.Gln24=)
|
rs1904984718
|
0.00001
|
|
NM_000023.4(SGCA):c.748-5T>G
|
rs1905249571
|
0.00001
|
|
NM_000023.4(SGCA):c.80C>T (p.Thr27Met)
|
rs565069721
|
0.00001
|
|
NM_000023.4(SGCA):c.849C>T (p.Asp283=)
|
rs764545490
|
0.00001
|
|
NM_000023.4(SGCA):c.864G>C (p.Val288=)
|
rs1244830971
|
0.00001
|
|
NM_000023.4(SGCA):c.87C>T (p.His29=)
|
rs757371081
|
0.00001
|
|
NM_000023.4(SGCA):c.894G>C (p.Leu298=)
|
rs182535883
|
0.00001
|
|
NM_000023.4(SGCA):c.956+8T>C
|
rs538839531
|
0.00001
|
|
NM_000023.4(SGCA):c.996C>A (p.Val332=)
|
rs777162824
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.110-6C>G
|
rs782099193
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.198G>A (p.Val66=)
|
rs782470471
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.231T>C (p.His77=)
|
rs782223969
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.238+11C>G
|
rs1163786089
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.461-16G>C
|
rs782759146
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.465T>C (p.Asp155=)
|
rs1603381303
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.507C>T (p.Leu169=)
|
rs782498534
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.54C>T (p.Thr18=)
|
rs781846964
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.634C>T (p.Leu212=)
|
rs587781186
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.660C>T (p.Val220=)
|
rs372610945
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.69C>T (p.Val23=)
|
rs782123597
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.700-5C>T
|
rs782731479
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.762G>A (p.Ala254=)
|
rs1042313041
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.771G>A (p.Lys257=)
|
rs368990588
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.774G>A (p.Ser258=)
|
rs782273950
|
0.00001
|
|
NM_000117.3(EMD):c.117C>T (p.Phe39=)
|
rs782334564
|
0.00001
|
|
NM_000117.3(EMD):c.129C>T (p.Thr43=)
|
rs781938390
|
0.00001
|
|
NM_000117.3(EMD):c.132G>A (p.Gln44=)
|
rs1322660028
|
0.00001
|
|
NM_000117.3(EMD):c.153C>A (p.Pro51=)
|
rs782051850
|
0.00001
|
|
NM_000117.3(EMD):c.15A>G (p.Ala5=)
|
rs1365728244
|
0.00001
|
|
NM_000117.3(EMD):c.168C>T (p.Ala56=)
|
rs782087009
|
0.00001
|
|
NM_000117.3(EMD):c.188-16C>T
|
rs1269992805
|
0.00001
|
|
NM_000117.3(EMD):c.198G>T (p.Ser66=)
|
rs1557182359
|
0.00001
|
|
NM_000117.3(EMD):c.240G>A (p.Glu80=)
|
rs782641259
|
0.00001
|
|
NM_000117.3(EMD):c.252C>T (p.Leu84=)
|
rs782612830
|
0.00001
|
|
NM_000117.3(EMD):c.266-19C>T
|
rs1057522166
|
0.00001
|
|
NM_000117.3(EMD):c.297C>T (p.Tyr99=)
|
rs1010675678
|
0.00001
|
|
NM_000117.3(EMD):c.306C>T (p.Thr102=)
|
rs782579799
|
0.00001
|
|
NM_000117.3(EMD):c.315T>C (p.Tyr105=)
|
rs1342409944
|
0.00001
|
|
NM_000117.3(EMD):c.330T>G (p.Ser110=)
|
rs782666989
|
0.00001
|
|
NM_000117.3(EMD):c.400-4G>T
|
rs782029952
|
0.00001
|
|
NM_000117.3(EMD):c.400-6C>T
|
rs782396776
|
0.00001
|
|
NM_000117.3(EMD):c.403C>T (p.His135Tyr)
|
rs782110153
|
0.00001
|
|
NM_000117.3(EMD):c.423T>G (p.Ser141=)
|
rs1209782193
|
0.00001
|
|
NM_000117.3(EMD):c.444G>A (p.Lys148=)
|
rs781889750
|
0.00001
|
|
NM_000117.3(EMD):c.449+12G>A
|
rs1557182578
|
0.00001
|
|
NM_000117.3(EMD):c.450-13T>C
|
rs375480222
|
0.00001
|
|
NM_000117.3(EMD):c.450-19C>T
|
rs1557182589
|
0.00001
|
|
NM_000117.3(EMD):c.489C>T (p.Ser163=)
|
rs782558454
|
0.00001
|
|
NM_000117.3(EMD):c.492C>T (p.Ile164=)
|
rs1286873712
|
0.00001
|
|
NM_000117.3(EMD):c.57C>T (p.Tyr19=)
|
rs371661299
|
0.00001
|
|
NM_000117.3(EMD):c.582A>C (p.Ser194=)
|
rs781933286
|
0.00001
|
|
NM_000117.3(EMD):c.603C>T (p.Leu201=)
|
rs1557182663
|
0.00001
|
|
NM_000117.3(EMD):c.702C>T (p.Val234=)
|
rs1057521076
|
0.00001
|
|
NM_000117.3(EMD):c.711C>T (p.Ile237=)
|
rs727503037
|
0.00001
|
|
NM_000117.3(EMD):c.735C>T (p.Phe245=)
|
rs782312045
|
0.00001
|
|
NM_000117.3(EMD):c.82+9C>T
|
rs1422586674
|
0.00001
|
|
NM_000117.3(EMD):c.83-18C>T
|
rs782577051
|
0.00001
|
|
NM_000126.4(ETFA):c.187-4A>T
|
rs745823838
|
0.00001
|
|
NM_000126.4(ETFA):c.21G>C (p.Pro7=)
|
rs903002200
|
0.00001
|
|
NM_000126.4(ETFA):c.264T>A (p.Leu88=)
|
rs1405829462
|
0.00001
|
|
NM_000126.4(ETFA):c.269-5C>T
|
rs2039776155
|
0.00001
|
|
NM_000126.4(ETFA):c.273A>G (p.Glu91=)
|
rs1043494451
|
0.00001
|
|
NM_000126.4(ETFA):c.283T>C (p.Leu95=)
|
rs759065701
|
0.00001
|
|
NM_000126.4(ETFA):c.30C>T (p.Leu10=)
|
rs1042921735
|
0.00001
|
|
NM_000126.4(ETFA):c.321C>T (p.His107=)
|
rs368550471
|
0.00001
|
|
NM_000126.4(ETFA):c.342C>T (p.Ala114=)
|
rs1306072739
|
0.00001
|
|
NM_000126.4(ETFA):c.351+10T>C
|
rs768357479
|
0.00001
|
|
NM_000126.4(ETFA):c.354C>T (p.Asn118=)
|
rs761728625
|
0.00001
|
|
NM_000126.4(ETFA):c.393G>A (p.Pro131=)
|
rs769299291
|
0.00001
|
|
NM_000126.4(ETFA):c.452-11del
|
rs764215608
|
0.00001
|
|
NM_000126.4(ETFA):c.564A>G (p.Ala188=)
|
rs752534473
|
0.00001
|
|
NM_000126.4(ETFA):c.654G>A (p.Val218=)
|
rs779655385
|
0.00001
|
|
NM_000126.4(ETFA):c.678G>A (p.Lys226=)
|
rs774023966
|
0.00001
|
|
NM_000126.4(ETFA):c.759T>C (p.Asp253=)
|
rs142970498
|
0.00001
|
|
NM_000126.4(ETFA):c.78T>C (p.Ala26=)
|
rs773298687
|
0.00001
|
|
NM_000126.4(ETFA):c.831T>C (p.Ala277=)
|
rs371149279
|
0.00001
|
|
NM_000126.4(ETFA):c.883-10T>C
|
rs1289782242
|
0.00001
|
|
NM_000126.4(ETFA):c.883-14T>A
|
rs2038999587
|
0.00001
|
|
NM_000126.4(ETFA):c.951A>G (p.Ala317=)
|
rs750192285
|
0.00001
|
|
NM_000126.4(ETFA):c.964-4G>A
|
rs777742977
|
0.00001
|
|
NM_000152.5(GAA):c.1044G>A (p.Lys348=)
|
rs1249705476
|
0.00001
|
|
NM_000152.5(GAA):c.1047C>T (p.Ser349=)
|
rs138262940
|
0.00001
|
|
NM_000152.5(GAA):c.1053G>A (p.Val351=)
|
rs773063199
|
0.00001
|
|
NM_000152.5(GAA):c.1056G>A (p.Gln352=)
|
rs2039145288
|
0.00001
|
|
NM_000152.5(GAA):c.1068C>T (p.Asp356=)
|
rs751215137
|
0.00001
|
|
NM_000152.5(GAA):c.108G>A (p.Leu36=)
|
rs1369758261
|
0.00001
|
|
NM_000152.5(GAA):c.1095A>G (p.Pro365=)
|
rs1555600060
|
0.00001
|
|
NM_000152.5(GAA):c.1107G>T (p.Leu369=)
|
rs767807936
|
0.00001
|
|
NM_000152.5(GAA):c.1110C>G (p.Gly370=)
|
rs775172804
|
0.00001
|
|
NM_000152.5(GAA):c.1116C>T (p.His372=)
|
rs760146859
|
0.00001
|
|
NM_000152.5(GAA):c.1146T>G (p.Ala382=)
|
rs1259509761
|
0.00001
|
|
NM_000152.5(GAA):c.1161G>C (p.Val387=)
|
rs756211975
|
0.00001
|
|
NM_000152.5(GAA):c.1170C>T (p.Asn390=)
|
rs757174980
|
0.00001
|
|
NM_000152.5(GAA):c.1192C>T (p.Leu398=)
|
rs369707231
|
0.00001
|
|
NM_000152.5(GAA):c.1195-4G>T
|
rs886042626
|
0.00001
|
|
NM_000152.5(GAA):c.1197C>T (p.Asp399=)
|
rs1555600168
|
0.00001
|
|
NM_000152.5(GAA):c.1200C>G (p.Val400=)
|
rs1431452557
|
0.00001
|
|
NM_000152.5(GAA):c.1227C>T (p.Asp409=)
|
rs2039157937
|
0.00001
|
|
NM_000152.5(GAA):c.1323C>T (p.Ile441=)
|
rs761982159
|
0.00001
|
|
NM_000152.5(GAA):c.1326+8C>A
|
rs762988038
|
0.00001
|
|
NM_000152.5(GAA):c.1338C>T (p.Ile446=)
|
rs931782061
|
0.00001
|
|
NM_000152.5(GAA):c.1347G>A (p.Ser449=)
|
rs756938942
|
0.00001
|
|
NM_000152.5(GAA):c.1410C>T (p.Asn470=)
|
rs886043068
|
0.00001
|
|
NM_000152.5(GAA):c.1438-10C>T
|
rs1029231930
|
0.00001
|
|
NM_000152.5(GAA):c.1449G>A (p.Gly483=)
|
rs2039213274
|
0.00001
|
|
NM_000152.5(GAA):c.1455T>G (p.Thr485=)
|
rs774037839
|
0.00001
|
|
NM_000152.5(GAA):c.1458C>T (p.Ala486=)
|
rs1051768479
|
0.00001
|
|
NM_000152.5(GAA):c.1464C>T (p.Pro488=)
|
rs767075458
|
0.00001
|
|
NM_000152.5(GAA):c.1485C>T (p.Ala495=)
|
rs765596792
|
0.00001
|
|
NM_000152.5(GAA):c.1500G>A (p.Glu500=)
|
rs893313279
|
0.00001
|
|
NM_000152.5(GAA):c.1539C>T (p.Asp513=)
|
rs150990571
|
0.00001
|
|
NM_000152.5(GAA):c.1551+10G>T
|
rs1002900770
|
0.00001
|
|
NM_000152.5(GAA):c.1551+12C>A
|
rs937342824
|
0.00001
|
|
NM_000152.5(GAA):c.1551+7G>A
|
rs1340464172
|
0.00001
|
|
NM_000152.5(GAA):c.1636+14C>T
|
rs758256318
|
0.00001
|
|
NM_000152.5(GAA):c.1636+7T>C
|
rs1041767114
|
0.00001
|
|
NM_000152.5(GAA):c.1636+9G>A
|
rs200302174
|
0.00001
|
|
NM_000152.5(GAA):c.1637-11G>A
|
rs557695694
|
0.00001
|
|
NM_000152.5(GAA):c.1662G>A (p.Ala554=)
|
rs775954786
|
0.00001
|
|
NM_000152.5(GAA):c.1698C>T (p.Ser566=)
|
rs970201201
|
0.00001
|
|
NM_000152.5(GAA):c.1754+8C>T
|
rs1349192080
|
0.00001
|
|
NM_000152.5(GAA):c.1755-11C>T
|
rs752066426
|
0.00001
|
|
NM_000152.5(GAA):c.1797C>A (p.Ser599=)
|
rs761377657
|
0.00001
|
|
NM_000152.5(GAA):c.1827C>T (p.Tyr609=)
|
rs745754277
|
0.00001
|
|
NM_000152.5(GAA):c.183C>T (p.Ser61=)
|
rs17853995
|
0.00001
|
|
NM_000152.5(GAA):c.1842G>A (p.Thr614=)
|
rs373955374
|
0.00001
|
|
NM_000152.5(GAA):c.1857C>T (p.Ser619=)
|
rs914396317
|
0.00001
|
|
NM_000152.5(GAA):c.1884G>C (p.Val628=)
|
rs780130036
|
0.00001
|
|
NM_000152.5(GAA):c.1889-14C>T
|
rs890806224
|
0.00001
|
|
NM_000152.5(GAA):c.1926C>T (p.Val642=)
|
rs1346499760
|
0.00001
|
|
NM_000152.5(GAA):c.1959C>T (p.Thr653=)
|
rs370737292
|
0.00001
|
|
NM_000152.5(GAA):c.1977G>A (p.Val659=)
|
rs751873094
|
0.00001
|
|
NM_000152.5(GAA):c.2025C>T (p.Asn675=)
|
rs143951130
|
0.00001
|
|
NM_000152.5(GAA):c.2040+16C>T
|
rs573522544
|
0.00001
|
|
NM_000152.5(GAA):c.2040+8G>A
|
rs779647712
|
0.00001
|
|
NM_000152.5(GAA):c.2041-13G>A
|
rs1450561353
|
0.00001
|
|
NM_000152.5(GAA):c.2041-14C>T
|
rs1047297951
|
0.00001
|
|
NM_000152.5(GAA):c.2041-17C>T
|
rs746028622
|
0.00001
|
|
NM_000152.5(GAA):c.2041-7C>T
|
rs1212995227
|
0.00001
|
|
NM_000152.5(GAA):c.2070G>A (p.Pro690=)
|
rs757802524
|
0.00001
|
|
NM_000152.5(GAA):c.2097C>T (p.Leu699=)
|
rs1381174968
|
0.00001
|
|
NM_000152.5(GAA):c.2118C>T (p.Leu706=)
|
rs1479318289
|
0.00001
|
|
NM_000152.5(GAA):c.2142C>T (p.His714=)
|
rs779462990
|
0.00001
|
|
NM_000152.5(GAA):c.2166C>T (p.Thr722=)
|
rs759452172
|
0.00001
|
|
NM_000152.5(GAA):c.2259C>T (p.Thr753=)
|
rs2039367115
|
0.00001
|
|
NM_000152.5(GAA):c.2283C>T (p.Ala761=)
|
rs774769974
|
0.00001
|
|
NM_000152.5(GAA):c.231A>G (p.Ala77=)
|
rs748580998
|
0.00001
|
|
NM_000152.5(GAA):c.234G>T (p.Val78=)
|
rs2039033854
|
0.00001
|
|
NM_000152.5(GAA):c.2392A>G (p.Ile798Val)
|
rs752459996
|
0.00001
|
|
NM_000152.5(GAA):c.2424G>A (p.Pro808=)
|
rs763272351
|
0.00001
|
|
NM_000152.5(GAA):c.2427C>G (p.Ala809=)
|
rs766325117
|
0.00001
|
|
NM_000152.5(GAA):c.2463G>T (p.Gly821=)
|
rs923989221
|
0.00001
|
|
NM_000152.5(GAA):c.2476C>T (p.Leu826=)
|
rs2039389671
|
0.00001
|
|
NM_000152.5(GAA):c.2481+12A>G
|
rs773652476
|
0.00001
|
|
NM_000152.5(GAA):c.2544C>T (p.Thr848=)
|
rs776487269
|
0.00001
|
|
NM_000152.5(GAA):c.2550T>C (p.Gly850=)
|
rs761608706
|
0.00001
|
|
NM_000152.5(GAA):c.2619C>T (p.Tyr873=)
|
rs1555603132
|
0.00001
|
|
NM_000152.5(GAA):c.2641A>G (p.Arg881Gly)
|
rs769578772
|
0.00001
|
|
NM_000152.5(GAA):c.2646+11G>A
|
rs1219786295
|
0.00001
|
|
NM_000152.5(GAA):c.2646+8C>A
|
rs773123506
|
0.00001
|
|
NM_000152.5(GAA):c.264C>T (p.Ser88=)
|
rs1470933192
|
0.00001
|
|
NM_000152.5(GAA):c.2655C>T (p.Ile885=)
|
rs774840779
|
0.00001
|
|
NM_000152.5(GAA):c.2700G>A (p.Gln900=)
|
rs1490464728
|
0.00001
|
|
NM_000152.5(GAA):c.270C>T (p.Phe90=)
|
rs768078324
|
0.00001
|
|
NM_000152.5(GAA):c.2712G>A (p.Val904=)
|
rs886043848
|
0.00001
|
|
NM_000152.5(GAA):c.276C>T (p.Cys92=)
|
rs1232001857
|
0.00001
|
|
NM_000152.5(GAA):c.2820G>A (p.Ser940=)
|
rs992579033
|
0.00001
|
|
NM_000152.5(GAA):c.2844C>T (p.Leu948=)
|
rs774656713
|
0.00001
|
|
NM_000152.5(GAA):c.36C>T (p.Leu12=)
|
rs200548806
|
0.00001
|
|
NM_000152.5(GAA):c.372G>A (p.Gln124=)
|
rs899924363
|
0.00001
|
|
NM_000152.5(GAA):c.384C>T (p.Phe128=)
|
rs1021707839
|
0.00001
|
|
NM_000152.5(GAA):c.421C>T (p.Leu141=)
|
rs1379595858
|
0.00001
|
|
NM_000152.5(GAA):c.42C>G (p.Ala14=)
|
rs141377453
|
0.00001
|
|
NM_000152.5(GAA):c.444C>T (p.Tyr148=)
|
rs886043112
|
0.00001
|
|
NM_000152.5(GAA):c.450C>G (p.Ala150=)
|
rs752367410
|
0.00001
|
|
NM_000152.5(GAA):c.456G>T (p.Leu152=)
|
rs1477781307
|
0.00001
|
|
NM_000152.5(GAA):c.459C>G (p.Thr153=)
|
rs751672437
|
0.00001
|
|
NM_000152.5(GAA):c.468C>T (p.Thr156=)
|
rs145849611
|
0.00001
|
|
NM_000152.5(GAA):c.471C>T (p.Pro157=)
|
rs551653463
|
0.00001
|
|
NM_000152.5(GAA):c.48C>T (p.Cys16=)
|
rs202168804
|
0.00001
|
|
NM_000152.5(GAA):c.546+12A>G
|
rs1438157883
|
0.00001
|
|
NM_000152.5(GAA):c.546+7A>C
|
rs1329049814
|
0.00001
|
|
NM_000152.5(GAA):c.594G>A (p.Pro198=)
|
rs1426823689
|
0.00001
|
|
NM_000152.5(GAA):c.603C>T (p.His201=)
|
rs1442775924
|
0.00001
|
|
NM_000152.5(GAA):c.609G>A (p.Arg203=)
|
rs1247872563
|
0.00001
|
|
NM_000152.5(GAA):c.615G>A (p.Pro205=)
|
rs141427808
|
0.00001
|
|
NM_000152.5(GAA):c.621A>G (p.Pro207=)
|
rs772482115
|
0.00001
|
|
NM_000152.5(GAA):c.630C>T (p.Ser210=)
|
rs775568949
|
0.00001
|
|
NM_000152.5(GAA):c.681C>T (p.Asp227=)
|
rs780515378
|
0.00001
|
|
NM_000152.5(GAA):c.692+9T>C
|
rs367661167
|
0.00001
|
|
NM_000152.5(GAA):c.702G>A (p.Thr234=)
|
rs755337511
|
0.00001
|
|
NM_000152.5(GAA):c.715C>T (p.Leu239=)
|
rs778882374
|
0.00001
|
|
NM_000152.5(GAA):c.780C>T (p.Leu260=)
|
rs372614893
|
0.00001
|
|
NM_000152.5(GAA):c.783C>T (p.Ala261=)
|
rs757356178
|
0.00001
|
|
NM_000152.5(GAA):c.798C>G (p.Pro266=)
|
rs1598575210
|
0.00001
|
|
NM_000152.5(GAA):c.834G>A (p.Leu278=)
|
rs776314424
|
0.00001
|
|
NM_000152.5(GAA):c.843G>A (p.Arg281=)
|
rs1221565410
|
0.00001
|
|
NM_000152.5(GAA):c.858+14C>T
|
rs746986703
|
0.00001
|
|
NM_000152.5(GAA):c.859-19C>T
|
rs1331623680
|
0.00001
|
|
NM_000152.5(GAA):c.876C>T (p.Tyr292=)
|
rs763216519
|
0.00001
|
|
NM_000152.5(GAA):c.900G>A (p.Ala300=)
|
rs759425304
|
0.00001
|
|
NM_000152.5(GAA):c.906G>A (p.Glu302=)
|
rs1488323868
|
0.00001
|
|
NM_000152.5(GAA):c.909C>T (p.Asp303=)
|
rs752724918
|
0.00001
|
|
NM_000152.5(GAA):c.918G>A (p.Ser306=)
|
rs373276219
|
0.00001
|
|
NM_000152.5(GAA):c.936G>T (p.Leu312=)
|
rs1456154347
|
0.00001
|
|
NM_000152.5(GAA):c.993G>A (p.Arg331=)
|
rs749831587
|
0.00001
|
|
NM_000152.5(GAA):c.996G>A (p.Ser332=)
|
rs779266179
|
0.00001
|
|
NM_000152.5(GAA):c.99T>C (p.His33=)
|
rs144736309
|
0.00001
|
|
NM_000182.5(HADHA):c.110-7T>C
|
rs551019555
|
0.00001
|
|
NM_000182.5(HADHA):c.1128C>T (p.Ile376=)
|
rs765101895
|
0.00001
|
|
NM_000182.5(HADHA):c.1140C>T (p.Ser380=)
|
rs199727889
|
0.00001
|
|
NM_000182.5(HADHA):c.1245A>G (p.Lys415=)
|
rs1669827760
|
0.00001
|
|
NM_000182.5(HADHA):c.1323C>T (p.Ala441=)
|
rs1288347890
|
0.00001
|
|
NM_000182.5(HADHA):c.1332G>A (p.Val444=)
|
rs1669824778
|
0.00001
|
|
NM_000182.5(HADHA):c.1389A>G (p.Glu463=)
|
rs772078762
|
0.00001
|
|
NM_000182.5(HADHA):c.1392+7A>G
|
rs757442432
|
0.00001
|
|
NM_000182.5(HADHA):c.1407C>T (p.His469=)
|
rs776013887
|
0.00001
|
|
NM_000182.5(HADHA):c.1434T>C (p.Ala478=)
|
rs780854216
|
0.00001
|
|
NM_000182.5(HADHA):c.1488C>A (p.Gly496=)
|
rs138750492
|
0.00001
|
|
NM_000182.5(HADHA):c.1524G>A (p.Leu508=)
|
rs748881184
|
0.00001
|
|
NM_000182.5(HADHA):c.1539G>A (p.Thr513=)
|
rs755287314
|
0.00001
|
|
NM_000182.5(HADHA):c.1599G>A (p.Gly533=)
|
rs773993179
|
0.00001
|
|
NM_000182.5(HADHA):c.1621-7T>C
|
rs774272303
|
0.00001
|
|
NM_000182.5(HADHA):c.1675A>G (p.Ile559Val)
|
rs780480297
|
0.00001
|
|
NM_000182.5(HADHA):c.1704G>A (p.Pro568=)
|
rs543883463
|
0.00001
|
|
NM_000182.5(HADHA):c.1755C>T (p.Ala585=)
|
rs921898736
|
0.00001
|
|
NM_000182.5(HADHA):c.1758A>C (p.Thr586=)
|
rs974621601
|
0.00001
|
|
NM_000182.5(HADHA):c.180+19A>G
|
rs367919663
|
0.00001
|
|
NM_000182.5(HADHA):c.1800G>A (p.Ala600=)
|
rs771364967
|
0.00001
|
|
NM_000182.5(HADHA):c.1854G>C (p.Leu618=)
|
rs201393639
|
0.00001
|
|
NM_000182.5(HADHA):c.1886-8T>C
|
rs749138340
|
0.00001
|
|
NM_000182.5(HADHA):c.189A>G (p.Thr63=)
|
rs748187062
|
0.00001
|
|
NM_000182.5(HADHA):c.2000+8C>T
|
rs750784743
|
0.00001
|
|
NM_000182.5(HADHA):c.2016C>T (p.Asp672=)
|
rs1669506916
|
0.00001
|
|
NM_000182.5(HADHA):c.201G>A (p.Glu67=)
|
rs1574626650
|
0.00001
|
|
NM_000182.5(HADHA):c.2022G>A (p.Gln674=)
|
rs1479427836
|
0.00001
|
|
NM_000182.5(HADHA):c.2112C>T (p.Ala704=)
|
rs754294789
|
0.00001
|
|
NM_000182.5(HADHA):c.2121G>C (p.Gly707=)
|
rs374503588
|
0.00001
|
|
NM_000182.5(HADHA):c.2146+9C>T
|
rs776491880
|
0.00001
|
|
NM_000182.5(HADHA):c.2147-19G>C
|
rs367910392
|
0.00001
|
|
NM_000182.5(HADHA):c.2148G>C (p.Gly716=)
|
rs1271662796
|
0.00001
|
|
NM_000182.5(HADHA):c.2156G>A (p.Arg719His)
|
rs751955844
|
0.00001
|
|
NM_000182.5(HADHA):c.2169G>T (p.Leu723=)
|
rs1352996721
|
0.00001
|
|
NM_000182.5(HADHA):c.2208T>C (p.Tyr736=)
|
rs774114061
|
0.00001
|
|
NM_000182.5(HADHA):c.264C>T (p.Ala88=)
|
rs755713464
|
0.00001
|
|
NM_000182.5(HADHA):c.27C>T (p.Ile9=)
|
rs1453533016
|
0.00001
|
|
NM_000182.5(HADHA):c.285A>T (p.Pro95=)
|
rs1483582925
|
0.00001
|
|
NM_000182.5(HADHA):c.324C>T (p.Ala108=)
|
rs559608103
|
0.00001
|
|
NM_000182.5(HADHA):c.363A>G (p.Gln121=)
|
rs199639645
|
0.00001
|
|
NM_000182.5(HADHA):c.425A>G (p.Asn142Ser)
|
rs200549951
|
0.00001
|
|
NM_000182.5(HADHA):c.552C>A (p.Gly184=)
|
rs997810898
|
0.00001
|
|
NM_000182.5(HADHA):c.573+16C>T
|
rs372317291
|
0.00001
|
|
NM_000182.5(HADHA):c.573+9A>G
|
rs1419666935
|
0.00001
|
|
NM_000182.5(HADHA):c.676+10A>G
|
rs746940690
|
0.00001
|
|
NM_000182.5(HADHA):c.708A>G (p.Thr236=)
|
rs769619183
|
0.00001
|
|
NM_000182.5(HADHA):c.720A>C (p.Leu240=)
|
rs147042247
|
0.00001
|
|
NM_000182.5(HADHA):c.751C>T (p.Leu251=)
|
rs778945181
|
0.00001
|
|
NM_000182.5(HADHA):c.768C>T (p.Ile256=)
|
rs1245138981
|
0.00001
|
|
NM_000182.5(HADHA):c.800-15C>T
|
rs1057523518
|
0.00001
|
|
NM_000182.5(HADHA):c.924A>G (p.Val308=)
|
rs556893283
|
0.00001
|
|
NM_000182.5(HADHA):c.976-7T>G
|
rs1670058905
|
0.00001
|
|
NM_000182.5(HADHA):c.981T>C (p.Phe327=)
|
rs775800474
|
0.00001
|
|
NM_000231.3(SGCG):c.112T>C (p.Leu38=)
|
rs1800349
|
0.00001
|
|
NM_000231.3(SGCG):c.120T>C (p.Val40=)
|
rs1022001256
|
0.00001
|
|
NM_000231.3(SGCG):c.196-10T>G
|
rs759238812
|
0.00001
|
|
NM_000231.3(SGCG):c.196-6T>A
|
rs1165407566
|
0.00001
|
|
NM_000231.3(SGCG):c.196-9T>G
|
rs1218168404
|
0.00001
|
|
NM_000231.3(SGCG):c.234G>A (p.Leu78=)
|
rs1879241633
|
0.00001
|
|
NM_000231.3(SGCG):c.267A>G (p.Pro89=)
|
rs149595403
|
0.00001
|
|
NM_000231.3(SGCG):c.297+10T>C
|
rs1879245855
|
0.00001
|
|
NM_000231.3(SGCG):c.315A>G (p.Leu105=)
|
rs779550455
|
0.00001
|
|
NM_000231.3(SGCG):c.318A>G (p.Gln106=)
|
rs371622125
|
0.00001
|
|
NM_000231.3(SGCG):c.477G>A (p.Val159=)
|
rs1475965743
|
0.00001
|
|
NM_000231.3(SGCG):c.501A>T (p.Val167=)
|
rs560640452
|
0.00001
|
|
NM_000231.3(SGCG):c.506-6G>A
|
rs1347438845
|
0.00001
|
|
NM_000231.3(SGCG):c.522T>C (p.Leu174=)
|
rs146679977
|
0.00001
|
|
NM_000231.3(SGCG):c.540G>A (p.Glu180=)
|
rs1384341355
|
0.00001
|
|
NM_000231.3(SGCG):c.578+7A>G
|
rs1881872240
|
0.00001
|
|
NM_000231.3(SGCG):c.578+8T>C
|
rs1359141230
|
0.00001
|
|
NM_000231.3(SGCG):c.579-6T>C
|
rs753444436
|
0.00001
|
|
NM_000231.3(SGCG):c.615C>A (p.Ala205=)
|
rs142409090
|
0.00001
|
|
NM_000231.3(SGCG):c.645T>A (p.Ala215=)
|
rs763278303
|
0.00001
|
|
NM_000231.3(SGCG):c.66T>C (p.Tyr22=)
|
rs376410504
|
0.00001
|
|
NM_000231.3(SGCG):c.690T>C (p.Ser230=)
|
rs875989949
|
0.00001
|
|
NM_000231.3(SGCG):c.702+15A>G
|
rs1220492352
|
0.00001
|
|
NM_000231.3(SGCG):c.786C>T (p.Tyr262=)
|
rs759316719
|
0.00001
|
|
NM_000231.3(SGCG):c.810G>C (p.Gly270=)
|
rs1268630904
|
0.00001
|
|
NM_000231.3(SGCG):c.831C>T (p.Ala277=)
|
rs754112406
|
0.00001
|
|
NM_000231.3(SGCG):c.87T>C (p.Tyr29=)
|
rs1196026821
|
0.00001
|
|
NM_000232.5(SGCB):c.129A>T (p.Gly43=)
|
rs1281862962
|
0.00001
|
|
NM_000232.5(SGCB):c.138G>A (p.Pro46=)
|
rs532448056
|
0.00001
|
|
NM_000232.5(SGCB):c.204G>T (p.Val68=)
|
rs1560568801
|
0.00001
|
|
NM_000232.5(SGCB):c.264C>T (p.Ala88=)
|
rs763525400
|
0.00001
|
|
NM_000232.5(SGCB):c.318C>A (p.Gly106=)
|
rs1335790481
|
0.00001
|
|
NM_000232.5(SGCB):c.33+8A>G
|
rs1476524603
|
0.00001
|
|
NM_000232.5(SGCB):c.345C>T (p.Asp115=)
|
rs886043228
|
0.00001
|
|
NM_000232.5(SGCB):c.390G>A (p.Arg130=)
|
rs781679527
|
0.00001
|
|
NM_000232.5(SGCB):c.429+19T>C
|
rs1737197744
|
0.00001
|
|
NM_000232.5(SGCB):c.465A>G (p.Val155=)
|
rs774413452
|
0.00001
|
|
NM_000232.5(SGCB):c.540C>T (p.Phe180=)
|
rs1235498684
|
0.00001
|
|
NM_000232.5(SGCB):c.543C>T (p.Ser181=)
|
rs757115090
|
0.00001
|
|
NM_000232.5(SGCB):c.738T>C (p.Asn246=)
|
rs1737145890
|
0.00001
|
|
NM_000232.5(SGCB):c.753+8T>G
|
rs781325990
|
0.00001
|
|
NM_000232.5(SGCB):c.754-13A>G
|
rs1225812140
|
0.00001
|
|
NM_000232.5(SGCB):c.754-16A>G
|
rs768400028
|
0.00001
|
|
NM_000232.5(SGCB):c.754-5A>G
|
rs946854788
|
0.00001
|
|
NM_000232.5(SGCB):c.792C>T (p.Ser264=)
|
rs1476325500
|
0.00001
|
|
NM_000232.5(SGCB):c.798C>T (p.Thr266=)
|
rs182784793
|
0.00001
|
|
NM_000232.5(SGCB):c.834T>C (p.Gly278=)
|
rs772207314
|
0.00001
|
|
NM_000232.5(SGCB):c.852C>T (p.Arg284=)
|
rs1179417557
|
0.00001
|
|
NM_000232.5(SGCB):c.861C>G (p.Leu287=)
|
rs1021753591
|
0.00001
|
|
NM_000232.5(SGCB):c.873T>C (p.Ala291=)
|
rs1240221402
|
0.00001
|
|
NM_000232.5(SGCB):c.879G>A (p.Gly293=)
|
rs1204832968
|
0.00001
|
|
NM_000232.5(SGCB):c.9A>G (p.Ala3=)
|
rs886043810
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1023C>T (p.Gly341=)
|
rs754469813
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1035G>A (p.Leu345=)
|
rs779704622
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1038C>T (p.Arg346=)
|
rs758016271
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1218C>T (p.Ser406=)
|
rs748558425
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1223+12G>T
|
rs1462717876
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1224-20C>T
|
rs745971530
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1227-14C>T
|
rs574567658
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1227-4C>G
|
rs113628269
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1227-9C>A
|
rs11570079
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1245C>T (p.Ile415=)
|
rs1339802996
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1282T>C (p.Leu428=)
|
rs758253767
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1287G>A (p.Ala429=)
|
rs778718628
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1338G>A (p.Glu446=)
|
rs757182984
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1344T>C (p.Phe448=)
|
rs979655756
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1352-16C>T
|
rs886038274
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1352-5G>A
|
rs770888201
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1392G>A (p.Leu464=)
|
rs900306372
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1458-5G>A
|
rs746542705
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1545C>T (p.Asn515=)
|
rs771230605
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1578A>T (p.Ala526=)
|
rs766721220
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1624+14G>C
|
rs397515914
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1624+20C>A
|
rs984077881
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1625-6C>T
|
rs1381594370
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1638G>A (p.Glu546=)
|
rs976630639
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1653C>T (p.Ile551=)
|
rs767414501
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1686G>A (p.Ala562=)
|
rs762228885
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1790+8T>A
|
rs1256714081
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1803G>A (p.Leu601=)
|
rs397515927
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1827C>T (p.Ala609=)
|
rs535853707
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1857G>A (p.Glu619=)
|
rs763030622
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1875G>C (p.Leu625=)
|
rs1249910550
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1893C>T (p.Phe631=)
|
rs2095888027
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1897+14A>C
|
rs779007895
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1928-11G>A
|
rs747711596
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1928-16A>G
|
rs769123745
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1928-6C>T
|
rs780665978
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1935C>T (p.Pro645=)
|
rs727503193
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1944C>T (p.His648=)
|
rs750861887
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1947G>C (p.Leu649=)
|
rs757244311
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1986A>G (p.Val662=)
|
rs961007973
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2034T>C (p.Ala678=)
|
rs757832991
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2100T>C (p.Asp700=)
|
rs1565626238
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2124C>T (p.Ser708=)
|
rs113658284
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2149-4C>G
|
rs1324005699
|
0.00001
|
|
NM_000256.3(MYBPC3):c.216C>A (p.Gly72=)
|
rs760007714
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2187C>T (p.Thr729=)
|
rs765983279
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2214C>T (p.Val738=)
|
rs777613325
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2220G>C (p.Gly740=)
|
rs1451991531
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2241C>T (p.Gly747=)
|
rs755910458
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2250G>A (p.Thr750=)
|
rs373338699
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2289C>T (p.Asn763=)
|
rs777228369
|
0.00001
|
|
NM_000256.3(MYBPC3):c.228G>A (p.Gln76=)
|
rs766359851
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2309-16A>C
|
rs1454822762
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2309-4C>T
|
rs942669152
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2328G>A (p.Ala776=)
|
rs1448521968
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2391C>T (p.Tyr797=)
|
rs727504864
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2394T>C (p.Asp798=)
|
rs970928136
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2397C>T (p.Gly799=)
|
rs756512665
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2409C>A (p.Ile803=)
|
rs202088839
|
0.00001
|
|
NM_000256.3(MYBPC3):c.240A>G (p.Ala80=)
|
rs770089112
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2484G>A (p.Glu828=)
|
rs765583270
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2526C>T (p.Tyr842=)
|
rs373792537
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2544G>A (p.Ala848=)
|
rs369904619
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2556C>T (p.Ile852=)
|
rs754062873
|
0.00001
|
|
NM_000256.3(MYBPC3):c.255C>T (p.Ser85=)
|
rs1206735579
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2603-10C>T
|
rs765120057
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2613C>T (p.Ser871=)
|
rs531228202
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2637G>A (p.Glu879=)
|
rs1394548630
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2655G>A (p.Thr885=)
|
rs769996102
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2737+10C>T
|
rs1447236020
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2737+13G>A
|
rs769949300
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2737+14C>A
|
rs886048373
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2737+15C>T
|
rs1352586007
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2738-13del
|
rs1198626772
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2800C>T (p.Leu934=)
|
rs367980215
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2856T>C (p.Pro952=)
|
rs397515989
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2883G>A (p.Pro961=)
|
rs568935618
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2905+18C>T
|
rs1051047152
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2906-7C>T
|
rs876657512
|
0.00001
|
|
NM_000256.3(MYBPC3):c.292+11G>C
|
rs1401899455
|
0.00001
|
|
NM_000256.3(MYBPC3):c.292+18C>T
|
rs1445084146
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2995-5C>G
|
rs376083315
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3048C>T (p.Gly1016=)
|
rs397515998
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3057G>C (p.Val1019=)
|
rs750618688
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3090G>T (p.Leu1030=)
|
rs770351760
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3108C>A (p.Arg1036=)
|
rs747059136
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3148G>A (p.Glu1050Lys)
|
rs780449220
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3165G>A (p.Lys1055=)
|
rs779257107
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3168C>T (p.Ala1056=)
|
rs373208282
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3171G>A (p.Thr1057=)
|
rs397516004
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3190+10C>T
|
rs1441694876
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3191-5C>T
|
rs1384298522
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3191-6C>T
|
rs1266805639
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3191-9C>T
|
rs1316069252
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3225T>G (p.Thr1075=)
|
rs374289617
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3264A>G (p.Pro1088=)
|
rs758229677
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3267C>A (p.Pro1089=)
|
rs745761062
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3342C>T (p.Thr1114=)
|
rs749130484
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3362G>A (p.Arg1121His)
|
rs397516018
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3372C>T (p.Cys1124=)
|
rs727504289
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3453G>A (p.Ala1151=)
|
rs993015599
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3459C>T (p.Thr1153=)
|
rs1488671331
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3490+10C>T
|
rs762642878
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3491-14C>A
|
rs1380147625
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3543A>G (p.Pro1181=)
|
rs1448642844
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3579C>T (p.Ile1193=)
|
rs541204647
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3582G>A (p.Ala1194=)
|
rs771490490
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3615G>A (p.Arg1205=)
|
rs771292799
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3627+17G>A
|
rs778235604
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3628-31G>C
|
rs760626322
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3628-33T>C
|
rs1256361043
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3628-48C>T
|
rs1464674382
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3628-5T>C
|
rs759005406
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3628-6T>C
|
rs1057520329
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3654C>T (p.Gly1218=)
|
rs374755212
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3705G>A (p.Val1235=)
|
rs397516036
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3720T>C (p.Ile1240=)
|
rs751092574
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3747C>G (p.Gly1249=)
|
rs772872595
|
0.00001
|
|
NM_000256.3(MYBPC3):c.378G>A (p.Glu126=)
|
rs758903546
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3810G>A (p.Val1270=)
|
rs1255638075
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3814+13C>T
|
rs764528392
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3814+14G>A
|
rs727504656
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3815-10T>G
|
rs397516043
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3815-12C>T
|
rs764320767
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3815-20C>T
|
rs1216064650
|
0.00001
|
|
NM_000256.3(MYBPC3):c.381G>A (p.Leu127=)
|
rs750955473
|
0.00001
|
|
NM_000256.3(MYBPC3):c.393C>A (p.Ala131=)
|
rs1180272933
|
0.00001
|
|
NM_000256.3(MYBPC3):c.39C>T (p.Ser13=)
|
rs730880136
|
0.00001
|
|
NM_000256.3(MYBPC3):c.407-19A>C
|
rs932729828
|
0.00001
|
|
NM_000256.3(MYBPC3):c.408G>C (p.Gly136=)
|
rs1057520977
|
0.00001
|
|
NM_000256.3(MYBPC3):c.414C>T (p.Ser138=)
|
rs1318654447
|
0.00001
|
|
NM_000256.3(MYBPC3):c.505+9G>A
|
rs890255177
|
0.00001
|
|
NM_000256.3(MYBPC3):c.549C>T (p.Leu183=)
|
rs368604485
|
0.00001
|
|
NM_000256.3(MYBPC3):c.567C>G (p.Val189=)
|
rs1290069260
|
0.00001
|
|
NM_000256.3(MYBPC3):c.570G>A (p.Lys190=)
|
rs932721415
|
0.00001
|
|
NM_000256.3(MYBPC3):c.582C>A (p.Gly194=)
|
rs375673378
|
0.00001
|
|
NM_000256.3(MYBPC3):c.633C>T (p.Asp211=)
|
rs765678794
|
0.00001
|
|
NM_000256.3(MYBPC3):c.654+10C>T
|
rs555554110
|
0.00001
|
|
NM_000256.3(MYBPC3):c.655-15C>A
|
rs188327777
|
0.00001
|
|
NM_000256.3(MYBPC3):c.681C>T (p.Thr227=)
|
rs756894628
|
0.00001
|
|
NM_000256.3(MYBPC3):c.773-13C>A
|
rs1394988381
|
0.00001
|
|
NM_000256.3(MYBPC3):c.773-14C>T
|
rs752062035
|
0.00001
|
|
NM_000256.3(MYBPC3):c.773-20T>C
|
rs749597330
|
0.00001
|
|
NM_000256.3(MYBPC3):c.804A>G (p.Leu268=)
|
rs1595848596
|
0.00001
|
|
NM_000256.3(MYBPC3):c.81C>T (p.Ala27=)
|
rs761547225
|
0.00001
|
|
NM_000256.3(MYBPC3):c.821+17A>G
|
rs1181843706
|
0.00001
|
|
NM_000256.3(MYBPC3):c.821+8G>A
|
rs1362987965
|
0.00001
|
|
NM_000256.3(MYBPC3):c.822-5C>G
|
rs764381544
|
0.00001
|
|
NM_000256.3(MYBPC3):c.851+11C>T
|
rs747300127
|
0.00001
|
|
NM_000256.3(MYBPC3):c.851+8T>C
|
rs1425113294
|
0.00001
|
|
NM_000256.3(MYBPC3):c.852-15G>A
|
rs1461663741
|
0.00001
|
|
NM_000256.3(MYBPC3):c.87C>T (p.Phe29=)
|
rs764557472
|
0.00001
|
|
NM_000256.3(MYBPC3):c.906-13T>C
|
rs730881219
|
0.00001
|
|
NM_000256.3(MYBPC3):c.906-9G>A
|
rs758117772
|
0.00001
|
|
NM_000256.3(MYBPC3):c.908+10G>A
|
rs1416997317
|
0.00001
|
|
NM_000256.3(MYBPC3):c.908+9C>T
|
rs1425018341
|
0.00001
|
|
NM_000256.3(MYBPC3):c.930C>T (p.Asp310=)
|
rs1315113225
|
0.00001
|
|
NM_000257.4(MYH7):c.1000-13G>T
|
rs772831757
|
0.00001
|
|
NM_000257.4(MYH7):c.1000-6C>T
|
rs1892859358
|
0.00001
|
|
NM_000257.4(MYH7):c.1020C>T (p.Gly340=)
|
rs1301955127
|
0.00001
|
|
NM_000257.4(MYH7):c.1065C>T (p.Ala355=)
|
rs778136999
|
0.00001
|
|
NM_000257.4(MYH7):c.1083C>T (p.Asn361=)
|
rs145091844
|
0.00001
|
|
NM_000257.4(MYH7):c.1110G>A (p.Glu370=)
|
rs1060504232
|
0.00001
|
|
NM_000257.4(MYH7):c.1139-14C>T
|
rs397516091
|
0.00001
|
|
NM_000257.4(MYH7):c.1139-4C>T
|
rs886050422
|
0.00001
|
|
NM_000257.4(MYH7):c.1257+7C>A
|
rs759480696
|
0.00001
|
|
NM_000257.4(MYH7):c.1257+9A>G
|
rs898409844
|
0.00001
|
|
NM_000257.4(MYH7):c.1272T>A (p.Thr424=)
|
rs1555338337
|
0.00001
|
|
NM_000257.4(MYH7):c.1338C>T (p.Thr446=)
|
rs147327560
|
0.00001
|
|
NM_000257.4(MYH7):c.1386C>T (p.Ile462=)
|
rs1432051238
|
0.00001
|
|
NM_000257.4(MYH7):c.1404C>T (p.Phe468=)
|
rs140218676
|
0.00001
|
|
NM_000257.4(MYH7):c.1408-19C>A
|
rs758286237
|
0.00001
|
|
NM_000257.4(MYH7):c.1408-8C>A
|
rs764196309
|
0.00001
|
|
NM_000257.4(MYH7):c.1486C>T (p.Leu496=)
|
rs1400164857
|
0.00001
|
|
NM_000257.4(MYH7):c.1569C>A (p.Leu523=)
|
rs1057520331
|
0.00001
|
|
NM_000257.4(MYH7):c.1578+7C>G
|
rs1261966952
|
0.00001
|
|
NM_000257.4(MYH7):c.1579-4T>C
|
rs1322757316
|
0.00001
|
|
NM_000257.4(MYH7):c.1668C>T (p.His556=)
|
rs765643812
|
0.00001
|
|
NM_000257.4(MYH7):c.1749C>T (p.Ala583=)
|
rs758665829
|
0.00001
|
|
NM_000257.4(MYH7):c.1851C>T (p.Leu617=)
|
rs1892745055
|
0.00001
|
|
NM_000257.4(MYH7):c.1857C>T (p.Thr619=)
|
rs770770421
|
0.00001
|
|
NM_000257.4(MYH7):c.1888+13T>G
|
rs727504516
|
0.00001
|
|
NM_000257.4(MYH7):c.1926G>A (p.Ser642=)
|
rs397516126
|
0.00001
|
|
NM_000257.4(MYH7):c.1957-16G>A
|
rs369038717
|
0.00001
|
|
NM_000257.4(MYH7):c.1957-7G>A
|
rs763943418
|
0.00001
|
|
NM_000257.4(MYH7):c.1957-7G>T
|
rs763943418
|
0.00001
|
|
NM_000257.4(MYH7):c.2044+10C>T
|
rs367957516
|
0.00001
|
|
NM_000257.4(MYH7):c.2044+18G>A
|
rs1406715881
|
0.00001
|
|
NM_000257.4(MYH7):c.204A>C (p.Thr68=)
|
rs1428522940
|
0.00001
|
|
NM_000257.4(MYH7):c.2106C>A (p.Ile702=)
|
rs1389668407
|
0.00001
|
|
NM_000257.4(MYH7):c.2148G>C (p.Gly716=)
|
rs755760309
|
0.00001
|
|
NM_000257.4(MYH7):c.2162+9G>A
|
rs765279420
|
0.00001
|
|
NM_000257.4(MYH7):c.2163-17G>C
|
rs1453013096
|
0.00001
|
|
NM_000257.4(MYH7):c.2169C>T (p.Arg723=)
|
rs1372972912
|
0.00001
|
|
NM_000257.4(MYH7):c.2172C>A (p.Ile724=)
|
rs752943580
|
0.00001
|
|
NM_000257.4(MYH7):c.2208T>C (p.Ile736=)
|
rs772879885
|
0.00001
|
|
NM_000257.4(MYH7):c.2226A>G (p.Ala742=)
|
rs1469321541
|
0.00001
|
|
NM_000257.4(MYH7):c.2229G>A (p.Glu743=)
|
rs397516139
|
0.00001
|
|
NM_000257.4(MYH7):c.2232G>A (p.Lys744=)
|
rs747848184
|
0.00001
|
|
NM_000257.4(MYH7):c.2238C>T (p.Leu746=)
|
rs768399986
|
0.00001
|
|
NM_000257.4(MYH7):c.2244C>T (p.Ser748=)
|
rs1439599919
|
0.00001
|
|
NM_000257.4(MYH7):c.2286+7A>G
|
rs758365123
|
0.00001
|
|
NM_000257.4(MYH7):c.2286G>A (p.Lys762=)
|
rs958169569
|
0.00001
|
|
NM_000257.4(MYH7):c.2352C>T (p.Ile784=)
|
rs397516143
|
0.00001
|
|
NM_000257.4(MYH7):c.2472C>T (p.Val824=)
|
rs397516150
|
0.00001
|
|
NM_000257.4(MYH7):c.2484C>G (p.Pro828=)
|
rs1555337746
|
0.00001
|
|
NM_000257.4(MYH7):c.2499C>T (p.Tyr833=)
|
rs397516151
|
0.00001
|
|
NM_000257.4(MYH7):c.252C>T (p.Phe84=)
|
rs267603955
|
0.00001
|
|
NM_000257.4(MYH7):c.2562G>A (p.Glu854=)
|
rs778148245
|
0.00001
|
|
NM_000257.4(MYH7):c.2586G>A (p.Ala862=)
|
rs112677962
|
0.00001
|
|
NM_000257.4(MYH7):c.2587C>T (p.Leu863=)
|
rs1595082485
|
0.00001
|
|
NM_000257.4(MYH7):c.2598C>T (p.Ser866=)
|
rs1202278618
|
0.00001
|
|
NM_000257.4(MYH7):c.2638C>T (p.Leu880=)
|
rs748621952
|
0.00001
|
|
NM_000257.4(MYH7):c.2680-11C>T
|
rs1166710990
|
0.00001
|
|
NM_000257.4(MYH7):c.2680-12C>T
|
rs1049143434
|
0.00001
|
|
NM_000257.4(MYH7):c.2692C>T (p.Leu898=)
|
rs727504407
|
0.00001
|
|
NM_000257.4(MYH7):c.2727C>A (p.Ile909=)
|
rs377722048
|
0.00001
|
|
NM_000257.4(MYH7):c.282C>T (p.Thr94=)
|
rs747450171
|
0.00001
|
|
NM_000257.4(MYH7):c.2862C>T (p.Ile954=)
|
rs982198020
|
0.00001
|
|
NM_000257.4(MYH7):c.2865T>C (p.Asp955=)
|
rs563133807
|
0.00001
|
|
NM_000257.4(MYH7):c.2922+16T>C
|
rs754814313
|
0.00001
|
|
NM_000257.4(MYH7):c.2923-6C>T
|
rs587781082
|
0.00001
|
|
NM_000257.4(MYH7):c.2979C>T (p.Thr993=)
|
rs397516176
|
0.00001
|
|
NM_000257.4(MYH7):c.300G>A (p.Ala100=)
|
rs757141502
|
0.00001
|
|
NM_000257.4(MYH7):c.3042G>A (p.Glu1014=)
|
rs1471909495
|
0.00001
|
|
NM_000257.4(MYH7):c.3079C>T (p.Leu1027=)
|
rs763501840
|
0.00001
|
|
NM_000257.4(MYH7):c.3099+9A>T
|
rs1320579178
|
0.00001
|
|
NM_000257.4(MYH7):c.3114G>A (p.Leu1038=)
|
rs1892507072
|
0.00001
|
|
NM_000257.4(MYH7):c.3117G>A (p.Glu1039=)
|
rs1437928468
|
0.00001
|
|
NM_000257.4(MYH7):c.3147G>A (p.Glu1049=)
|
rs1216521596
|
0.00001
|
|
NM_000257.4(MYH7):c.3171C>T (p.Gly1057=)
|
rs758822596
|
0.00001
|
|
NM_000257.4(MYH7):c.3216C>T (p.Asp1072=)
|
rs146256500
|
0.00001
|
|
NM_000257.4(MYH7):c.3245+7T>C
|
rs995780485
|
0.00001
|
|
NM_000257.4(MYH7):c.3259C>T (p.Leu1087=)
|
rs1299689855
|
0.00001
|
|
NM_000257.4(MYH7):c.3300C>T (p.Leu1100=)
|
rs1266310347
|
0.00001
|
|
NM_000257.4(MYH7):c.3336+10G>A
|
rs918506971
|
0.00001
|
|
NM_000257.4(MYH7):c.3336+18A>T
|
rs758208825
|
0.00001
|
|
NM_000257.4(MYH7):c.3336+19C>T
|
rs140413525
|
0.00001
|
|
NM_000257.4(MYH7):c.3402G>A (p.Lys1134=)
|
rs587781083
|
0.00001
|
|
NM_000257.4(MYH7):c.3408C>T (p.Arg1136=)
|
rs947702752
|
0.00001
|
|
NM_000257.4(MYH7):c.3459C>T (p.Ala1153=)
|
rs1235431208
|
0.00001
|
|
NM_000257.4(MYH7):c.346-9T>C
|
rs1050742545
|
0.00001
|
|
NM_000257.4(MYH7):c.3474C>T (p.Ser1158=)
|
rs587780395
|
0.00001
|
|
NM_000257.4(MYH7):c.3486G>A (p.Glu1162=)
|
rs757114504
|
0.00001
|
|
NM_000257.4(MYH7):c.3567C>T (p.Ala1189=)
|
rs1165812799
|
0.00001
|
|
NM_000257.4(MYH7):c.3591C>T (p.Ala1197=)
|
rs901079585
|
0.00001
|
|
NM_000257.4(MYH7):c.3603C>G (p.Ala1201=)
|
rs201576345
|
0.00001
|
|
NM_000257.4(MYH7):c.3669G>A (p.Glu1223=)
|
rs1023290989
|
0.00001
|
|
NM_000257.4(MYH7):c.3682C>T (p.Leu1228=)
|
rs560995739
|
0.00001
|
|
NM_000257.4(MYH7):c.36C>T (p.Ala12=)
|
rs766884630
|
0.00001
|
|
NM_000257.4(MYH7):c.3711G>A (p.Gln1237=)
|
rs1361182615
|
0.00001
|
|
NM_000257.4(MYH7):c.3774G>A (p.Glu1258=)
|
rs199653953
|
0.00001
|
|
NM_000257.4(MYH7):c.3786G>A (p.Lys1262=)
|
rs45497796
|
0.00001
|
|
NM_000257.4(MYH7):c.3813C>T (p.Asn1271=)
|
rs767389598
|
0.00001
|
|
NM_000257.4(MYH7):c.3853+10G>C
|
rs567188710
|
0.00001
|
|
NM_000257.4(MYH7):c.3854-11T>C
|
rs1181864990
|
0.00001
|
|
NM_000257.4(MYH7):c.3894C>A (p.Ile1298=)
|
rs754009767
|
0.00001
|
|
NM_000257.4(MYH7):c.3934C>T (p.Leu1312=)
|
rs886050419
|
0.00001
|
|
NM_000257.4(MYH7):c.3975G>A (p.Ala1325=)
|
rs1424491117
|
0.00001
|
|
NM_000257.4(MYH7):c.4020C>T (p.Cys1340=)
|
rs374499515
|
0.00001
|
|
NM_000257.4(MYH7):c.4041C>T (p.Tyr1347=)
|
rs1199930760
|
0.00001
|
|
NM_000257.4(MYH7):c.4044G>A (p.Glu1348=)
|
rs1436990490
|
0.00001
|
|
NM_000257.4(MYH7):c.4098G>A (p.Ser1366=)
|
rs534379369
|
0.00001
|
|
NM_000257.4(MYH7):c.4227C>G (p.Ala1409=)
|
rs148788346
|
0.00001
|
|
NM_000257.4(MYH7):c.423C>A (p.Ala141=)
|
rs761969201
|
0.00001
|
|
NM_000257.4(MYH7):c.4326G>A (p.Leu1442=)
|
rs727503243
|
0.00001
|
|
NM_000257.4(MYH7):c.4353+11G>T
|
rs764167288
|
0.00001
|
|
NM_000257.4(MYH7):c.4353+20C>T
|
rs199912646
|
0.00001
|
|
NM_000257.4(MYH7):c.4354-16C>T
|
rs1401010130
|
0.00001
|
|
NM_000257.4(MYH7):c.4512C>T (p.Asn1504=)
|
rs1219572407
|
0.00001
|
|
NM_000257.4(MYH7):c.453G>A (p.Pro151=)
|
rs777382773
|
0.00001
|
|
NM_000257.4(MYH7):c.4572T>C (p.His1524=)
|
rs1246893810
|
0.00001
|
|
NM_000257.4(MYH7):c.4584G>A (p.Lys1528=)
|
rs1892237100
|
0.00001
|
|
NM_000257.4(MYH7):c.4587C>A (p.Val1529=)
|
rs148054271
|
0.00001
|
|
NM_000257.4(MYH7):c.4590A>G (p.Arg1530=)
|
rs768723855
|
0.00001
|
|
NM_000257.4(MYH7):c.4644+7G>C
|
rs1555336564
|
0.00001
|
|
NM_000257.4(MYH7):c.4644+9G>T
|
rs755707262
|
0.00001
|
|
NM_000257.4(MYH7):c.4659C>T (p.His1553=)
|
rs570079347
|
0.00001
|
|
NM_000257.4(MYH7):c.4680G>A (p.Arg1560=)
|
rs771236158
|
0.00001
|
|
NM_000257.4(MYH7):c.4689G>A (p.Leu1563=)
|
rs770477774
|
0.00001
|
|
NM_000257.4(MYH7):c.4698C>T (p.Asn1566=)
|
rs1217251362
|
0.00001
|
|
NM_000257.4(MYH7):c.4725G>A (p.Lys1575=)
|
rs45476496
|
0.00001
|
|
NM_000257.4(MYH7):c.4803G>A (p.Leu1601=)
|
rs397516228
|
0.00001
|
|
NM_000257.4(MYH7):c.4890C>T (p.Ser1630=)
|
rs1378184837
|
0.00001
|
|
NM_000257.4(MYH7):c.4911C>T (p.Ala1637=)
|
rs151113658
|
0.00001
|
|
NM_000257.4(MYH7):c.4941G>A (p.Gln1647=)
|
rs749154313
|
0.00001
|
|
NM_000257.4(MYH7):c.4948T>C (p.Leu1650=)
|
rs1342070817
|
0.00001
|
|
NM_000257.4(MYH7):c.4954-15T>C
|
rs1892179365
|
0.00001
|
|
NM_000257.4(MYH7):c.4965T>C (p.Ile1655=)
|
rs886039010
|
0.00001
|
|
NM_000257.4(MYH7):c.4992C>T (p.Asn1664=)
|
rs763538103
|
0.00001
|
|
NM_000257.4(MYH7):c.4995C>T (p.Asp1665=)
|
rs1424110818
|
0.00001
|
|
NM_000257.4(MYH7):c.5001G>A (p.Leu1667=)
|
rs1892175008
|
0.00001
|
|
NM_000257.4(MYH7):c.5019C>T (p.Ile1673=)
|
rs139518691
|
0.00001
|
|
NM_000257.4(MYH7):c.503-8C>A
|
rs606231313
|
0.00001
|
|
NM_000257.4(MYH7):c.5062T>C (p.Leu1688=)
|
rs768580382
|
0.00001
|
|
NM_000257.4(MYH7):c.5076G>A (p.Val1692=)
|
rs781334634
|
0.00001
|
|
NM_000257.4(MYH7):c.5127T>C (p.Thr1709=)
|
rs760420056
|
0.00001
|
|
NM_000257.4(MYH7):c.5163C>T (p.Thr1721=)
|
rs148739072
|
0.00001
|
|
NM_000257.4(MYH7):c.5178G>A (p.Gln1726=)
|
rs747252861
|
0.00001
|
|
NM_000257.4(MYH7):c.523C>T (p.Leu175=)
|
rs756407787
|
0.00001
|
|
NM_000257.4(MYH7):c.5245A>C (p.Arg1749=)
|
rs562465062
|
0.00001
|
|
NM_000257.4(MYH7):c.5283+7C>T
|
rs772148835
|
0.00001
|
|
NM_000257.4(MYH7):c.5284-17C>T
|
rs767904246
|
0.00001
|
|
NM_000257.4(MYH7):c.531-15C>A
|
rs559147441
|
0.00001
|
|
NM_000257.4(MYH7):c.531-5C>T
|
rs397516243
|
0.00001
|
|
NM_000257.4(MYH7):c.5328C>T (p.Ser1776=)
|
rs765263589
|
0.00001
|
|
NM_000257.4(MYH7):c.5443C>T (p.Leu1815=)
|
rs1456310241
|
0.00001
|
|
NM_000257.4(MYH7):c.5505G>A (p.Glu1835=)
|
rs750622554
|
0.00001
|
|
NM_000257.4(MYH7):c.5508G>A (p.Ser1836=)
|
rs754171610
|
0.00001
|
|
NM_000257.4(MYH7):c.5541C>A (p.Ile1847=)
|
rs770583523
|
0.00001
|
|
NM_000257.4(MYH7):c.5559+12G>A
|
rs372667935
|
0.00001
|
|
NM_000257.4(MYH7):c.5560-12T>G
|
rs587781086
|
0.00001
|
|
NM_000257.4(MYH7):c.5560-6C>T
|
rs767956231
|
0.00001
|
|
NM_000257.4(MYH7):c.5565G>A (p.Glu1855=)
|
rs762494719
|
0.00001
|
|
NM_000257.4(MYH7):c.5574G>A (p.Arg1858=)
|
rs529784690
|
0.00001
|
|
NM_000257.4(MYH7):c.558C>T (p.Val186=)
|
rs745823988
|
0.00001
|
|
NM_000257.4(MYH7):c.5619A>G (p.Leu1873=)
|
rs749320297
|
0.00001
|
|
NM_000257.4(MYH7):c.5646C>T (p.Ala1882=)
|
rs730880726
|
0.00001
|
|
NM_000257.4(MYH7):c.5655+13G>T
|
rs755230416
|
0.00001
|
|
NM_000257.4(MYH7):c.5655+15T>G
|
rs1290830802
|
0.00001
|
|
NM_000257.4(MYH7):c.5656-18T>A
|
rs770065133
|
0.00001
|
|
NM_000257.4(MYH7):c.5656-8T>G
|
rs397516251
|
0.00001
|
|
NM_000257.4(MYH7):c.5661G>A (p.Glu1887=)
|
rs730880727
|
0.00001
|
|
NM_000257.4(MYH7):c.5667C>T (p.Ala1889=)
|
rs1595070502
|
0.00001
|
|
NM_000257.4(MYH7):c.5703C>T (p.His1901=)
|
rs45570635
|
0.00001
|
|
NM_000257.4(MYH7):c.5727G>A (p.Arg1909=)
|
rs761750159
|
0.00001
|
|
NM_000257.4(MYH7):c.5739C>G (p.Ala1913=)
|
rs200921000
|
0.00001
|
|
NM_000257.4(MYH7):c.5763G>A (p.Arg1921=)
|
rs1366690349
|
0.00001
|
|
NM_000257.4(MYH7):c.5787G>A (p.Thr1929=)
|
rs397516257
|
0.00001
|
|
NM_000257.4(MYH7):c.639+13C>T
|
rs1346778409
|
0.00001
|
|
NM_000257.4(MYH7):c.645C>T (p.Thr215=)
|
rs1371181685
|
0.00001
|
|
NM_000257.4(MYH7):c.705C>T (p.Thr235=)
|
rs552415639
|
0.00001
|
|
NM_000257.4(MYH7):c.732+16C>T
|
rs1892941256
|
0.00001
|
|
NM_000257.4(MYH7):c.732+9T>A
|
rs766215178
|
0.00001
|
|
NM_000257.4(MYH7):c.733-8C>T
|
rs201264386
|
0.00001
|
|
NM_000257.4(MYH7):c.870G>A (p.Leu290=)
|
rs777259259
|
0.00001
|
|
NM_000257.4(MYH7):c.895+16C>T
|
rs757052861
|
0.00001
|
|
NM_000257.4(MYH7):c.896-17C>T
|
rs569428750
|
0.00001
|
|
NM_000257.4(MYH7):c.942C>T (p.Ser314=)
|
rs1292997772
|
0.00001
|
|
NM_000258.3(MYL3):c.183C>T (p.Phe61=)
|
rs368118534
|
0.00001
|
|
NM_000258.3(MYL3):c.198G>A (p.Lys66=)
|
rs781357657
|
0.00001
|
|
NM_000258.3(MYL3):c.222G>A (p.Gly74=)
|
rs144543453
|
0.00001
|
|
NM_000258.3(MYL3):c.247C>T (p.Leu83=)
|
rs1246506798
|
0.00001
|
|
NM_000258.3(MYL3):c.258C>T (p.Asn86=)
|
rs759363076
|
0.00001
|
|
NM_000258.3(MYL3):c.27G>A (p.Lys9=)
|
rs994017710
|
0.00001
|
|
NM_000258.3(MYL3):c.381A>C (p.Thr127=)
|
rs758267230
|
0.00001
|
|
NM_000258.3(MYL3):c.426G>A (p.Lys142=)
|
rs1435096286
|
0.00001
|
|
NM_000258.3(MYL3):c.429G>A (p.Glu143=)
|
rs746210438
|
0.00001
|
|
NM_000258.3(MYL3):c.435T>C (p.Asn145=)
|
rs774762882
|
0.00001
|
|
NM_000258.3(MYL3):c.465C>T (p.His155=)
|
rs147125759
|
0.00001
|
|
NM_000258.3(MYL3):c.482-20C>T
|
rs199811108
|
0.00001
|
|
NM_000258.3(MYL3):c.483T>G (p.Gly161=)
|
rs1345959283
|
0.00001
|
|
NM_000258.3(MYL3):c.501C>T (p.Asp167=)
|
rs552824036
|
0.00001
|
|
NM_000258.3(MYL3):c.504A>G (p.Glu168=)
|
rs1575497436
|
0.00001
|
|
NM_000258.3(MYL3):c.507G>A (p.Val169=)
|
rs1166390418
|
0.00001
|
|
NM_000258.3(MYL3):c.560-10T>G
|
rs749105574
|
0.00001
|
|
NM_000258.3(MYL3):c.560-15T>G
|
rs1041055773
|
0.00001
|
|
NM_000258.3(MYL3):c.6C>A (p.Ala2=)
|
rs971197044
|
0.00001
|
|
NM_000258.3(MYL3):c.78C>T (p.Pro26=)
|
rs764784092
|
0.00001
|
|
NM_000337.6(SGCD):c.153C>T (p.Ala51=)
|
rs1021837057
|
0.00001
|
|
NM_000337.6(SGCD):c.193-12G>T
|
rs727503421
|
0.00001
|
|
NM_000337.6(SGCD):c.193-8T>C
|
rs775726683
|
0.00001
|
|
NM_000337.6(SGCD):c.193-9C>G
|
rs1479077458
|
0.00001
|
|
NM_000337.6(SGCD):c.237A>G (p.Leu79=)
|
rs759198194
|
0.00001
|
|
NM_000337.6(SGCD):c.249T>G (p.Ser83=)
|
rs1348759871
|
0.00001
|
|
NM_000337.6(SGCD):c.258A>G (p.Leu86=)
|
rs755568661
|
0.00001
|
|
NM_000337.6(SGCD):c.270C>T (p.Tyr90=)
|
rs749273088
|
0.00001
|
|
NM_000337.6(SGCD):c.288C>A (p.Ser96=)
|
rs746179885
|
0.00001
|
|
NM_000337.6(SGCD):c.294+18G>A
|
rs774199047
|
0.00001
|
|
NM_000337.6(SGCD):c.295-4G>T
|
rs1397739383
|
0.00001
|
|
NM_000337.6(SGCD):c.382+11G>A
|
rs1760629317
|
0.00001
|
|
NM_000337.6(SGCD):c.387A>G (p.Pro129=)
|
rs80066854
|
0.00001
|
|
NM_000337.6(SGCD):c.4-13T>A
|
rs761148697
|
0.00001
|
|
NM_000337.6(SGCD):c.4-7A>G
|
rs1161530606
|
0.00001
|
|
NM_000337.6(SGCD):c.447C>G (p.Leu149=)
|
rs1257378159
|
0.00001
|
|
NM_000337.6(SGCD):c.45T>A (p.Pro15=)
|
rs727505092
|
0.00001
|
|
NM_000337.6(SGCD):c.503-11T>G
|
rs372967785
|
0.00001
|
|
NM_000337.6(SGCD):c.54G>A (p.Val18=)
|
rs756970013
|
0.00001
|
|
NM_000337.6(SGCD):c.576-20C>T
|
rs764323398
|
0.00001
|
|
NM_000337.6(SGCD):c.577T>C (p.Leu193=)
|
rs776813977
|
0.00001
|
|
NM_000337.6(SGCD):c.642T>C (p.Ala214=)
|
rs778303434
|
0.00001
|
|
NM_000337.6(SGCD):c.768G>A (p.Thr256=)
|
rs376141942
|
0.00001
|
|
NM_000337.6(SGCD):c.99A>T (p.Arg33=)
|
rs745487169
|
0.00001
|
|
NM_000363.5(TNNI3):c.108+17T>G
|
rs1319060363
|
0.00001
|
|
NM_000363.5(TNNI3):c.109-7C>G
|
rs1317507392
|
0.00001
|
|
NM_000363.5(TNNI3):c.213G>A (p.Glu71=)
|
rs770487905
|
0.00001
|
|
NM_000363.5(TNNI3):c.226C>T (p.Leu76=)
|
rs1336868426
|
0.00001
|
|
NM_000363.5(TNNI3):c.24+19G>A
|
rs368708903
|
0.00001
|
|
NM_000363.5(TNNI3):c.258C>T (p.Ala86=)
|
rs727503508
|
0.00001
|
|
NM_000363.5(TNNI3):c.277C>T (p.Leu93=)
|
rs1221536494
|
0.00001
|
|
NM_000363.5(TNNI3):c.300C>G (p.Leu100=)
|
rs772145171
|
0.00001
|
|
NM_000363.5(TNNI3):c.336C>T (p.Tyr112=)
|
rs559450042
|
0.00001
|
|
NM_000363.5(TNNI3):c.369G>A (p.Thr123=)
|
rs748164248
|
0.00001
|
|
NM_000363.5(TNNI3):c.372+20C>T
|
rs529338677
|
0.00001
|
|
NM_000363.5(TNNI3):c.373-17C>T
|
rs769481190
|
0.00001
|
|
NM_000363.5(TNNI3):c.384G>A (p.Leu128=)
|
rs373130533
|
0.00001
|
|
NM_000363.5(TNNI3):c.417T>C (p.Phe139=)
|
rs1371643118
|
0.00001
|
|
NM_000363.5(TNNI3):c.426C>T (p.Pro142=)
|
rs532949659
|
0.00001
|
|
NM_000363.5(TNNI3):c.474G>C (p.Leu158=)
|
rs749880457
|
0.00001
|
|
NM_000363.5(TNNI3):c.495G>A (p.Glu165=)
|
rs1333619884
|
0.00001
|
|
NM_000363.5(TNNI3):c.550-12G>A
|
rs754944128
|
0.00001
|
|
NM_000363.5(TNNI3):c.550-13C>T
|
rs372398075
|
0.00001
|
|
NM_000363.5(TNNI3):c.550-14T>C
|
rs758992431
|
0.00001
|
|
NM_000363.5(TNNI3):c.585C>T (p.Ile195=)
|
rs200085986
|
0.00001
|
|
NM_000363.5(TNNI3):c.606G>A (p.Glu202=)
|
rs796474405
|
0.00001
|
|
NM_000363.5(TNNI3):c.609C>T (p.Gly203=)
|
rs587780968
|
0.00001
|
|
NM_000371.4(TTR):c.121C>A (p.Arg41=)
|
rs1004021945
|
0.00001
|
|
NM_000371.4(TTR):c.147C>T (p.Ala49=)
|
rs11081703
|
0.00001
|
|
NM_000371.4(TTR):c.200+15A>G
|
rs1485205541
|
0.00001
|
|
NM_000371.4(TTR):c.200+17C>A
|
rs767333203
|
0.00001
|
|
NM_000371.4(TTR):c.200+20T>C
|
rs2073494875
|
0.00001
|
|
NM_000371.4(TTR):c.201-16C>T
|
rs941725460
|
0.00001
|
|
NM_000371.4(TTR):c.24C>T (p.Leu8=)
|
rs991342939
|
0.00001
|
|
NM_000371.4(TTR):c.315C>A (p.Ser105=)
|
rs11541787
|
0.00001
|
|
NM_000371.4(TTR):c.336+8T>C
|
rs1176464590
|
0.00001
|
|
NM_000371.4(TTR):c.337-13T>C
|
rs762691667
|
0.00001
|
|
NM_000371.4(TTR):c.408T>C (p.Tyr136=)
|
rs1454790119
|
0.00001
|
|
NM_000371.4(TTR):c.40C>T (p.Leu14=)
|
rs1347695561
|
0.00001
|
|
NM_000371.4(TTR):c.69+12T>C
|
rs368643414
|
0.00001
|
|
NM_000371.4(TTR):c.70-16T>C
|
rs759512847
|
0.00001
|
|
NM_000371.4(TTR):c.75C>T (p.Thr25=)
|
rs750051388
|
0.00001
|
|
NM_000432.4(MYL2):c.120G>A (p.Arg40=)
|
rs571489007
|
0.00001
|
|
NM_000432.4(MYL2):c.138G>A (p.Lys46=)
|
rs1267967428
|
0.00001
|
|
NM_000432.4(MYL2):c.147G>A (p.Leu49=)
|
rs749936467
|
0.00001
|
|
NM_000432.4(MYL2):c.156C>A (p.Thr52=)
|
rs761358011
|
0.00001
|
|
NM_000432.4(MYL2):c.169+13C>T
|
rs367740411
|
0.00001
|
|
NM_000432.4(MYL2):c.169+7C>T
|
rs371784522
|
0.00001
|
|
NM_000432.4(MYL2):c.170-14G>C
|
rs371431719
|
0.00001
|
|
NM_000432.4(MYL2):c.264G>A (p.Glu88=)
|
rs1187321974
|
0.00001
|
|
NM_000432.4(MYL2):c.275-12G>A
|
rs750937792
|
0.00001
|
|
NM_000432.4(MYL2):c.275-8C>T
|
rs765328765
|
0.00001
|
|
NM_000432.4(MYL2):c.303C>T (p.Asn101=)
|
rs1317472220
|
0.00001
|
|
NM_000432.4(MYL2):c.315G>C (p.Val105=)
|
rs768415509
|
0.00001
|
|
NM_000432.4(MYL2):c.353+7G>A
|
rs764227154
|
0.00001
|
|
NM_000432.4(MYL2):c.354-20C>G
|
rs376261948
|
0.00001
|
|
NM_000432.4(MYL2):c.4-19C>T
|
rs1566150502
|
0.00001
|
|
NM_000432.4(MYL2):c.4-5C>G
|
rs374870836
|
0.00001
|
|
NM_000432.4(MYL2):c.403-11G>A
|
rs1212140808
|
0.00001
|
|
NM_000432.4(MYL2):c.403-20G>A
|
rs759088974
|
0.00001
|
|
NM_000432.4(MYL2):c.403-8C>T
|
rs1440682502
|
0.00001
|
|
NM_000432.4(MYL2):c.408C>T (p.Asp136=)
|
rs1356499130
|
0.00001
|
|
NM_000432.4(MYL2):c.447C>T (p.Asn149=)
|
rs397516405
|
0.00001
|
|
NM_000432.4(MYL2):c.483C>T (p.His161=)
|
rs886039108
|
0.00001
|
|
NM_000432.4(MYL2):c.63C>T (p.Phe21=)
|
rs779983470
|
0.00001
|
|
NM_000432.4(MYL2):c.93+15T>C
|
rs754871718
|
0.00001
|
|
NM_000432.4(MYL2):c.94-16C>G
|
rs745969429
|
0.00001
|
|
NM_000432.4(MYL2):c.94-9C>T
|
rs1476443487
|
0.00001
|
|
NM_000475.5(NR0B1):c.1209C>G (p.Leu403=)
|
rs990602963
|
0.00001
|
|
NM_000475.5(NR0B1):c.697G>A (p.Ala233Thr)
|
rs761762294
|
0.00001
|
|
NM_000475.5(NR0B1):c.90A>G (p.Pro30=)
|
rs777399647
|
0.00001
|
|
NM_001005242.3(PKP2):c.1035-9T>C
|
rs1057522716
|
0.00001
|
|
NM_001005242.3(PKP2):c.1086A>G (p.Ala362=)
|
rs376167178
|
0.00001
|
|
NM_001005242.3(PKP2):c.1236G>A (p.Gln412=)
|
rs779749104
|
0.00001
|
|
NM_001005242.3(PKP2):c.1326G>A (p.Leu442=)
|
rs377076035
|
0.00001
|
|
NM_001005242.3(PKP2):c.1329C>G (p.Leu443=)
|
rs1365569704
|
0.00001
|
|
NM_001005242.3(PKP2):c.1379-2023C>T
|
rs587781108
|
0.00001
|
|
NM_001005242.3(PKP2):c.1379-2112A>G
|
rs367657856
|
0.00001
|
|
NM_001005242.3(PKP2):c.1379-5T>C
|
rs189036647
|
0.00001
|
|
NM_001005242.3(PKP2):c.1419T>C (p.Asn473=)
|
rs757126132
|
0.00001
|
|
NM_001005242.3(PKP2):c.1446G>A (p.Thr482=)
|
rs370753286
|
0.00001
|
|
NM_001005242.3(PKP2):c.1476T>C (p.Ser492=)
|
rs751082209
|
0.00001
|
|
NM_001005242.3(PKP2):c.1515G>A (p.Leu505=)
|
rs148533214
|
0.00001
|
|
NM_001005242.3(PKP2):c.1518C>T (p.Leu506=)
|
rs1320642436
|
0.00001
|
|
NM_001005242.3(PKP2):c.1641A>G (p.Arg547=)
|
rs1264399626
|
0.00001
|
|
NM_001005242.3(PKP2):c.165G>T (p.Arg55=)
|
rs1472609900
|
0.00001
|
|
NM_001005242.3(PKP2):c.1674+13A>C
|
rs768698663
|
0.00001
|
|
NM_001005242.3(PKP2):c.1674+7C>G
|
rs868645170
|
0.00001
|
|
NM_001005242.3(PKP2):c.1680G>A (p.Thr560=)
|
rs773662874
|
0.00001
|
|
NM_001005242.3(PKP2):c.1840-10G>C
|
rs768000598
|
0.00001
|
|
NM_001005242.3(PKP2):c.1840-13T>C
|
rs533952272
|
0.00001
|
|
NM_001005242.3(PKP2):c.192C>A (p.Leu64=)
|
rs768376044
|
0.00001
|
|
NM_001005242.3(PKP2):c.1932C>T (p.Ser644=)
|
rs763042549
|
0.00001
|
|
NM_001005242.3(PKP2):c.2013+6_2013+9dup
|
rs768133889
|
0.00001
|
|
NM_001005242.3(PKP2):c.2014-12C>G
|
rs990954323
|
0.00001
|
|
NM_001005242.3(PKP2):c.2014-7A>G
|
rs1555141645
|
0.00001
|
|
NM_001005242.3(PKP2):c.2070C>G (p.Thr690=)
|
rs587781109
|
0.00001
|
|
NM_001005242.3(PKP2):c.2168-5T>C
|
rs1227875716
|
0.00001
|
|
NM_001005242.3(PKP2):c.2217G>A (p.Pro739=)
|
rs753226330
|
0.00001
|
|
NM_001005242.3(PKP2):c.224-11C>A
|
rs928408888
|
0.00001
|
|
NM_001005242.3(PKP2):c.224-9T>C
|
rs1238184418
|
0.00001
|
|
NM_001005242.3(PKP2):c.2349A>G (p.Ala783=)
|
rs139258347
|
0.00001
|
|
NM_001005242.3(PKP2):c.2358-6T>C
|
rs761613652
|
0.00001
|
|
NM_001005242.3(PKP2):c.2379T>C (p.Ser793=)
|
rs532024812
|
0.00001
|
|
NM_001005242.3(PKP2):c.2391C>T (p.Ser797=)
|
rs772225819
|
0.00001
|
|
NM_001005242.3(PKP2):c.2409G>A (p.Leu803=)
|
rs374689137
|
0.00001
|
|
NM_001005242.3(PKP2):c.2445+9A>G
|
rs770027185
|
0.00001
|
|
NM_001005242.3(PKP2):c.2446-8T>C
|
rs794729101
|
0.00001
|
|
NM_001005242.3(PKP2):c.2457G>A (p.Lys819=)
|
rs777477467
|
0.00001
|
|
NM_001005242.3(PKP2):c.2502C>T (p.Ser834=)
|
rs763095604
|
0.00001
|
|
NM_001005242.3(PKP2):c.39C>T (p.Ile13=)
|
rs770102631
|
0.00001
|
|
NM_001005242.3(PKP2):c.405C>T (p.Ser135=)
|
rs775423741
|
0.00001
|
|
NM_001005242.3(PKP2):c.473G>A (p.Arg158Lys)
|
rs397517027
|
0.00001
|
|
NM_001005242.3(PKP2):c.492C>T (p.Ser164=)
|
rs747582030
|
0.00001
|
|
NM_001005242.3(PKP2):c.498C>T (p.Tyr166=)
|
rs772439804
|
0.00001
|
|
NM_001005242.3(PKP2):c.525G>A (p.Gly175=)
|
rs748807540
|
0.00001
|
|
NM_001005242.3(PKP2):c.681C>T (p.Ser227=)
|
rs762263587
|
0.00001
|
|
NM_001005242.3(PKP2):c.720G>A (p.Leu240=)
|
rs777567315
|
0.00001
|
|
NM_001005242.3(PKP2):c.726G>A (p.Thr242=)
|
rs866886453
|
0.00001
|
|
NM_001005242.3(PKP2):c.837C>T (p.Pro279=)
|
rs572938229
|
0.00001
|
|
NM_001005242.3(PKP2):c.903G>A (p.Leu301=)
|
rs934225556
|
0.00001
|
|
NM_001005242.3(PKP2):c.909A>G (p.Glu303=)
|
rs376001513
|
0.00001
|
|
NM_001005242.3(PKP2):c.915G>A (p.Gly305=)
|
rs1274553859
|
0.00001
|
|
NM_001005242.3(PKP2):c.921T>C (p.Ser307=)
|
rs941328238
|
0.00001
|
|
NM_001005242.3(PKP2):c.975C>T (p.Ala325=)
|
rs369921166
|
0.00001
|
|
NM_001005242.3(PKP2):c.994C>T (p.Leu332=)
|
rs1956945387
|
0.00001
|
|
NM_001018005.2(TPM1):c.114+16G>C
|
rs1304088652
|
0.00001
|
|
NM_001018005.2(TPM1):c.114+18C>A
|
rs1442521579
|
0.00001
|
|
NM_001018005.2(TPM1):c.138G>A (p.Leu46=)
|
rs200509525
|
0.00001
|
|
NM_001018005.2(TPM1):c.241-9T>C
|
rs377417143
|
0.00001
|
|
NM_001018005.2(TPM1):c.252C>T (p.Asp84=)
|
rs369617788
|
0.00001
|
|
NM_001018005.2(TPM1):c.273C>T (p.Arg91=)
|
rs1400074860
|
0.00001
|
|
NM_001018005.2(TPM1):c.288G>A (p.Glu96=)
|
rs192883939
|
0.00001
|
|
NM_001018005.2(TPM1):c.318G>T (p.Leu106=)
|
rs1449770307
|
0.00001
|
|
NM_001018005.2(TPM1):c.375-18G>C
|
rs1004179784
|
0.00001
|
|
NM_001018005.2(TPM1):c.39C>G (p.Leu13=)
|
rs1439080260
|
0.00001
|
|
NM_001018005.2(TPM1):c.438C>T (p.Ile146=)
|
rs1460142862
|
0.00001
|
|
NM_001018005.2(TPM1):c.444G>C (p.Leu148=)
|
rs376518788
|
0.00001
|
|
NM_001018005.2(TPM1):c.493-6C>T
|
rs397516374
|
0.00001
|
|
NM_001018005.2(TPM1):c.573C>T (p.Ala191=)
|
rs780507307
|
0.00001
|
|
NM_001018005.2(TPM1):c.630G>A (p.Gln210=)
|
rs761816813
|
0.00001
|
|
NM_001018005.2(TPM1):c.639+10G>A
|
rs763272536
|
0.00001
|
|
NM_001018005.2(TPM1):c.684T>C (p.Leu228=)
|
rs397516384
|
0.00001
|
|
NM_001018005.2(TPM1):c.6C>T (p.Asp2=)
|
rs1350935943
|
0.00001
|
|
NM_001018005.2(TPM1):c.702+10G>C
|
rs1386461337
|
0.00001
|
|
NM_001018005.2(TPM1):c.705T>C (p.Ala235=)
|
rs1222579354
|
0.00001
|
|
NM_001018005.2(TPM1):c.768A>G (p.Leu256=)
|
rs139650306
|
0.00001
|
|
NM_001018005.2(TPM1):c.773-18T>C
|
rs759150466
|
0.00001
|
|
NM_001018005.2(TPM1):c.774C>T (p.Asp258=)
|
rs762282433
|
0.00001
|
|
NM_001018005.2(TPM1):c.807C>T (p.Ala269=)
|
rs751778912
|
0.00001
|
|
NM_001018005.2(TPM1):c.828C>T (p.His276=)
|
rs368813394
|
0.00001
|
|
NM_001018005.2(TPM1):c.837C>T (p.Asn279=)
|
rs397516393
|
0.00001
|
|
NM_001018005.2(TPM1):c.840T>C (p.Asp280=)
|
rs749271066
|
0.00001
|
|
NM_001018005.2(TPM1):c.852-4G>A
|
rs374970923
|
0.00001
|
|
NM_001018005.2(TPM1):c.852-5C>T
|
rs766724527
|
0.00001
|
|
NM_001018005.2(TPM1):c.93G>C (p.Ala31=)
|
rs770661916
|
0.00001
|
|
NM_001035.3(RYR2):c.10002G>A (p.Val3334=)
|
rs1265756833
|
0.00001
|
|
NM_001035.3(RYR2):c.10008G>A (p.Glu3336=)
|
rs753175584
|
0.00001
|
|
NM_001035.3(RYR2):c.10047G>A (p.Ser3349=)
|
rs144428932
|
0.00001
|
|
NM_001035.3(RYR2):c.1006-6C>T
|
rs1010185386
|
0.00001
|
|
NM_001035.3(RYR2):c.10119G>A (p.Leu3373=)
|
rs1363597090
|
0.00001
|
|
NM_001035.3(RYR2):c.10125A>G (p.Arg3375=)
|
rs764396074
|
0.00001
|
|
NM_001035.3(RYR2):c.10161G>A (p.Glu3387=)
|
rs1391492847
|
0.00001
|
|
NM_001035.3(RYR2):c.10189C>T (p.Arg3397Cys)
|
rs764084155
|
0.00001
|
|
NM_001035.3(RYR2):c.10191C>A (p.Arg3397=)
|
rs1029985619
|
0.00001
|
|
NM_001035.3(RYR2):c.10200T>C (p.Ala3400=)
|
rs779316628
|
0.00001
|
|
NM_001035.3(RYR2):c.10220C>T (p.Ser3407Leu)
|
rs780287361
|
0.00001
|
|
NM_001035.3(RYR2):c.10230+15A>G
|
rs770179743
|
0.00001
|
|
NM_001035.3(RYR2):c.10257C>T (p.Phe3419=)
|
rs748715725
|
0.00001
|
|
NM_001035.3(RYR2):c.10323+19T>A
|
rs765263725
|
0.00001
|
|
NM_001035.3(RYR2):c.10324-13C>G
|
rs1188052509
|
0.00001
|
|
NM_001035.3(RYR2):c.10389C>T (p.Thr3463=)
|
rs878854151
|
0.00001
|
|
NM_001035.3(RYR2):c.1038A>G (p.Val346=)
|
rs796573345
|
0.00001
|
|
NM_001035.3(RYR2):c.10524A>T (p.Ile3508=)
|
rs770094996
|
0.00001
|
|
NM_001035.3(RYR2):c.10529G>A (p.Arg3510His)
|
rs375947003
|
0.00001
|
|
NM_001035.3(RYR2):c.10551C>A (p.Gly3517=)
|
rs768797598
|
0.00001
|
|
NM_001035.3(RYR2):c.10555-10T>C
|
rs540655909
|
0.00001
|
|
NM_001035.3(RYR2):c.10555-4G>A
|
rs1309517155
|
0.00001
|
|
NM_001035.3(RYR2):c.10581A>G (p.Gln3527=)
|
rs760635634
|
0.00001
|
|
NM_001035.3(RYR2):c.10615G>A (p.Asp3539Asn)
|
rs766991919
|
0.00001
|
|
NM_001035.3(RYR2):c.10662A>T (p.Ile3554=)
|
rs1558290857
|
0.00001
|
|
NM_001035.3(RYR2):c.10725+17A>G
|
rs562857494
|
0.00001
|
|
NM_001035.3(RYR2):c.10767A>G (p.Lys3589=)
|
rs1176468756
|
0.00001
|
|
NM_001035.3(RYR2):c.10956A>G (p.Pro3652=)
|
rs765137450
|
0.00001
|
|
NM_001035.3(RYR2):c.11039+13G>T
|
rs727504882
|
0.00001
|
|
NM_001035.3(RYR2):c.11040-6C>T
|
rs764492350
|
0.00001
|
|
NM_001035.3(RYR2):c.11040-8T>C
|
rs1346619924
|
0.00001
|
|
NM_001035.3(RYR2):c.11055T>C (p.Asp3685=)
|
rs368014495
|
0.00001
|
|
NM_001035.3(RYR2):c.11112T>C (p.Asp3704=)
|
rs779013786
|
0.00001
|
|
NM_001035.3(RYR2):c.11118T>C (p.Asp3706=)
|
rs1691685791
|
0.00001
|
|
NM_001035.3(RYR2):c.11131G>A (p.Val3711Met)
|
rs1307926430
|
0.00001
|
|
NM_001035.3(RYR2):c.11146-6G>A
|
rs886046277
|
0.00001
|
|
NM_001035.3(RYR2):c.11196C>T (p.His3732=)
|
rs774786081
|
0.00001
|
|
NM_001035.3(RYR2):c.11205C>T (p.Gly3735=)
|
rs756763032
|
0.00001
|
|
NM_001035.3(RYR2):c.11229A>C (p.Thr3743=)
|
rs755203769
|
0.00001
|
|
NM_001035.3(RYR2):c.11245+14A>G
|
rs566690905
|
0.00001
|
|
NM_001035.3(RYR2):c.11250A>C (p.Glu3750Asp)
|
rs769433180
|
0.00001
|
|
NM_001035.3(RYR2):c.11252C>G (p.Thr3751Ser)
|
rs772768256
|
0.00001
|
|
NM_001035.3(RYR2):c.11307G>A (p.Gly3769=)
|
rs1253833653
|
0.00001
|
|
NM_001035.3(RYR2):c.11326-4A>G
|
rs727504876
|
0.00001
|
|
NM_001035.3(RYR2):c.11385C>G (p.Gly3795=)
|
rs919989129
|
0.00001
|
|
NM_001035.3(RYR2):c.11477-14T>C
|
rs1219270773
|
0.00001
|
|
NM_001035.3(RYR2):c.11477-20T>A
|
rs1347306061
|
0.00001
|
|
NM_001035.3(RYR2):c.11558-15T>C
|
rs753142009
|
0.00001
|
|
NM_001035.3(RYR2):c.11592T>C (p.Asn3864=)
|
rs1335514890
|
0.00001
|
|
NM_001035.3(RYR2):c.11601T>C (p.Thr3867=)
|
rs1226933021
|
0.00001
|
|
NM_001035.3(RYR2):c.11622T>G (p.Thr3874=)
|
rs1258139963
|
0.00001
|
|
NM_001035.3(RYR2):c.11634A>G (p.Leu3878=)
|
rs587781143
|
0.00001
|
|
NM_001035.3(RYR2):c.1163A>G (p.Gln388Arg)
|
rs397516506
|
0.00001
|
|
NM_001035.3(RYR2):c.11647-18A>G
|
rs772991575
|
0.00001
|
|
NM_001035.3(RYR2):c.11647-5C>T
|
rs1470967404
|
0.00001
|
|
NM_001035.3(RYR2):c.1170+10T>C
|
rs760377600
|
0.00001
|
|
NM_001035.3(RYR2):c.11776-6C>T
|
rs761155489
|
0.00001
|
|
NM_001035.3(RYR2):c.11859T>C (p.His3953=)
|
rs751268867
|
0.00001
|
|
NM_001035.3(RYR2):c.11922G>A (p.Leu3974=)
|
rs769084479
|
0.00001
|
|
NM_001035.3(RYR2):c.11958A>G (p.Leu3986=)
|
rs762362078
|
0.00001
|
|
NM_001035.3(RYR2):c.11962+17C>G
|
rs770285624
|
0.00001
|
|
NM_001035.3(RYR2):c.11963-9T>C
|
rs113583794
|
0.00001
|
|
NM_001035.3(RYR2):c.12083C>T (p.Ser4028Leu)
|
rs779666612
|
0.00001
|
|
NM_001035.3(RYR2):c.12153G>A (p.Ala4051=)
|
rs768288201
|
0.00001
|
|
NM_001035.3(RYR2):c.12168G>A (p.Lys4056=)
|
rs1573932788
|
0.00001
|
|
NM_001035.3(RYR2):c.12174C>T (p.Tyr4058=)
|
rs766262728
|
0.00001
|
|
NM_001035.3(RYR2):c.12198T>G (p.Leu4066=)
|
rs767815859
|
0.00001
|
|
NM_001035.3(RYR2):c.12234C>T (p.Leu4078=)
|
rs769308688
|
0.00001
|
|
NM_001035.3(RYR2):c.12297C>T (p.Ala4099=)
|
rs369971378
|
0.00001
|
|
NM_001035.3(RYR2):c.12315C>T (p.Leu4105=)
|
rs184625125
|
0.00001
|
|
NM_001035.3(RYR2):c.12333C>T (p.Asn4111=)
|
rs748716535
|
0.00001
|
|
NM_001035.3(RYR2):c.12336T>C (p.Asp4112=)
|
rs770434178
|
0.00001
|
|
NM_001035.3(RYR2):c.12366A>G (p.Ala4122=)
|
rs373185648
|
0.00001
|
|
NM_001035.3(RYR2):c.12387C>T (p.Phe4129=)
|
rs1238580758
|
0.00001
|
|
NM_001035.3(RYR2):c.12397C>T (p.Leu4133=)
|
rs1553322794
|
0.00001
|
|
NM_001035.3(RYR2):c.12435C>T (p.Ile4145=)
|
rs954641240
|
0.00001
|
|
NM_001035.3(RYR2):c.12471A>G (p.Arg4157=)
|
rs751897207
|
0.00001
|
|
NM_001035.3(RYR2):c.12489C>T (p.Pro4163=)
|
rs777321777
|
0.00001
|
|
NM_001035.3(RYR2):c.12621G>A (p.Ser4207=)
|
rs969138992
|
0.00001
|
|
NM_001035.3(RYR2):c.12627G>A (p.Ser4209=)
|
rs3753631
|
0.00001
|
|
NM_001035.3(RYR2):c.12638A>G (p.Glu4213Gly)
|
rs1178157004
|
0.00001
|
|
NM_001035.3(RYR2):c.12660A>C (p.Glu4220Asp)
|
rs1323430299
|
0.00001
|
|
NM_001035.3(RYR2):c.12693G>A (p.Pro4231=)
|
rs748387463
|
0.00001
|
|
NM_001035.3(RYR2):c.12715C>T (p.Leu4239=)
|
rs766396305
|
0.00001
|
|
NM_001035.3(RYR2):c.12720G>C (p.Thr4240=)
|
rs774851947
|
0.00001
|
|
NM_001035.3(RYR2):c.12752A>G (p.Asn4251Ser)
|
rs750064223
|
0.00001
|
|
NM_001035.3(RYR2):c.12906C>T (p.Phe4302=)
|
rs1265667422
|
0.00001
|
|
NM_001035.3(RYR2):c.12912C>G (p.Gly4304=)
|
rs1245462519
|
0.00001
|
|
NM_001035.3(RYR2):c.12920G>A (p.Arg4307His)
|
rs769146715
|
0.00001
|
|
NM_001035.3(RYR2):c.12927T>A (p.Ile4309=)
|
rs777132279
|
0.00001
|
|
NM_001035.3(RYR2):c.1293-7A>G
|
rs1185030643
|
0.00001
|
|
NM_001035.3(RYR2):c.12960A>G (p.Glu4320=)
|
rs1456795811
|
0.00001
|
|
NM_001035.3(RYR2):c.12991T>C (p.Leu4331=)
|
rs1327823442
|
0.00001
|
|
NM_001035.3(RYR2):c.13068C>T (p.Ala4356=)
|
rs779932052
|
0.00001
|
|
NM_001035.3(RYR2):c.1320G>A (p.Ala440=)
|
rs887478410
|
0.00001
|
|
NM_001035.3(RYR2):c.13212C>T (p.Asp4404=)
|
rs758548582
|
0.00001
|
|
NM_001035.3(RYR2):c.13220G>A (p.Ser4407Asn)
|
rs755585430
|
0.00001
|
|
NM_001035.3(RYR2):c.13252A>G (p.Lys4418Glu)
|
rs1029442866
|
0.00001
|
|
NM_001035.3(RYR2):c.13261-11A>T
|
rs1391876423
|
0.00001
|
|
NM_001035.3(RYR2):c.13301A>C (p.Glu4434Ala)
|
rs771286329
|
0.00001
|
|
NM_001035.3(RYR2):c.13326C>T (p.Ala4442=)
|
rs768161152
|
0.00001
|
|
NM_001035.3(RYR2):c.13329-10G>C
|
rs754319442
|
0.00001
|
|
NM_001035.3(RYR2):c.13329-15T>C
|
rs1188175665
|
0.00001
|
|
NM_001035.3(RYR2):c.1335C>T (p.Val445=)
|
rs573201028
|
0.00001
|
|
NM_001035.3(RYR2):c.13399A>G (p.Thr4467Ala)
|
rs774270919
|
0.00001
|
|
NM_001035.3(RYR2):c.13410C>T (p.Tyr4470=)
|
rs183933829
|
0.00001
|
|
NM_001035.3(RYR2):c.13425G>T (p.Val4475=)
|
rs760691911
|
0.00001
|
|
NM_001035.3(RYR2):c.13449A>G (p.Lys4483=)
|
rs1008224442
|
0.00001
|
|
NM_001035.3(RYR2):c.13477-9C>T
|
rs1351628892
|
0.00001
|
|
NM_001035.3(RYR2):c.13482T>C (p.Tyr4494=)
|
rs886046279
|
0.00001
|
|
NM_001035.3(RYR2):c.1353C>T (p.Ser451=)
|
rs764245031
|
0.00001
|
|
NM_001035.3(RYR2):c.13564-18T>A
|
rs776614513
|
0.00001
|
|
NM_001035.3(RYR2):c.13604C>T (p.Thr4535Met)
|
rs756839134
|
0.00001
|
|
NM_001035.3(RYR2):c.13623T>C (p.Asn4541=)
|
rs1389335931
|
0.00001
|
|
NM_001035.3(RYR2):c.13647C>T (p.Ser4549=)
|
rs1166610736
|
0.00001
|
|
NM_001035.3(RYR2):c.13665C>T (p.Ile4555=)
|
rs375213838
|
0.00001
|
|
NM_001035.3(RYR2):c.13681C>T (p.Leu4561=)
|
rs372599604
|
0.00001
|
|
NM_001035.3(RYR2):c.13743C>G (p.Val4581=)
|
rs377670364
|
0.00001
|
|
NM_001035.3(RYR2):c.13783-4G>A
|
rs1364773484
|
0.00001
|
|
NM_001035.3(RYR2):c.13788A>T (p.Pro4596=)
|
rs368675632
|
0.00001
|
|
NM_001035.3(RYR2):c.13806A>G (p.Arg4602=)
|
rs1230311017
|
0.00001
|
|
NM_001035.3(RYR2):c.13902A>C (p.Val4634=)
|
rs1449876826
|
0.00001
|
|
NM_001035.3(RYR2):c.1392C>A (p.His464Gln)
|
rs749032742
|
0.00001
|
|
NM_001035.3(RYR2):c.13957-10A>G
|
rs780730833
|
0.00001
|
|
NM_001035.3(RYR2):c.14040T>C (p.Ser4680=)
|
rs938907868
|
0.00001
|
|
NM_001035.3(RYR2):c.14055G>A (p.Lys4685=)
|
rs765409439
|
0.00001
|
|
NM_001035.3(RYR2):c.1405C>T (p.His469Tyr)
|
rs776288769
|
0.00001
|
|
NM_001035.3(RYR2):c.14085A>C (p.Ser4695=)
|
rs758566439
|
0.00001
|
|
NM_001035.3(RYR2):c.14090+15G>A
|
rs375767595
|
0.00001
|
|
NM_001035.3(RYR2):c.1423A>C (p.Lys475Gln)
|
rs765389300
|
0.00001
|
|
NM_001035.3(RYR2):c.14301C>T (p.Leu4767=)
|
rs369715118
|
0.00001
|
|
NM_001035.3(RYR2):c.14415A>G (p.Lys4805=)
|
rs397516515
|
0.00001
|
|
NM_001035.3(RYR2):c.14433+10T>A
|
rs1174588915
|
0.00001
|
|
NM_001035.3(RYR2):c.1444C>T (p.Leu482=)
|
rs117903753
|
0.00001
|
|
NM_001035.3(RYR2):c.14502A>G (p.Pro4834=)
|
rs368463791
|
0.00001
|
|
NM_001035.3(RYR2):c.14590+11T>C
|
rs750269889
|
0.00001
|
|
NM_001035.3(RYR2):c.14591-4C>T
|
rs1298987321
|
0.00001
|
|
NM_001035.3(RYR2):c.14625C>T (p.Asp4875=)
|
rs1184589246
|
0.00001
|
|
NM_001035.3(RYR2):c.14757-14C>A
|
rs1574129539
|
0.00001
|
|
NM_001035.3(RYR2):c.14781C>T (p.Asn4927=)
|
rs559218380
|
0.00001
|
|
NM_001035.3(RYR2):c.14808+12A>C
|
rs886046281
|
0.00001
|
|
NM_001035.3(RYR2):c.14811A>G (p.Glu4937=)
|
rs1282956982
|
0.00001
|
|
NM_001035.3(RYR2):c.14850A>G (p.Glu4950=)
|
rs947052066
|
0.00001
|
|
NM_001035.3(RYR2):c.1504A>G (p.Ile502Val)
|
rs1309242606
|
0.00001
|
|
NM_001035.3(RYR2):c.1575T>C (p.Ser525=)
|
rs576451595
|
0.00001
|
|
NM_001035.3(RYR2):c.1612+7A>C
|
rs371061260
|
0.00001
|
|
NM_001035.3(RYR2):c.171T>C (p.Asn57=)
|
rs1355336223
|
0.00001
|
|
NM_001035.3(RYR2):c.177C>T (p.Pro59=)
|
rs1274699222
|
0.00001
|
|
NM_001035.3(RYR2):c.1987G>A (p.Val663Ile)
|
rs374277541
|
0.00001
|
|
NM_001035.3(RYR2):c.2022C>T (p.Tyr674=)
|
rs1411379557
|
0.00001
|
|
NM_001035.3(RYR2):c.2175T>C (p.Tyr725=)
|
rs758813812
|
0.00001
|
|
NM_001035.3(RYR2):c.2204-14T>G
|
rs767973692
|
0.00001
|
|
NM_001035.3(RYR2):c.2223A>G (p.Val741=)
|
rs117242563
|
0.00001
|
|
NM_001035.3(RYR2):c.2275T>A (p.Leu759Ile)
|
rs768063536
|
0.00001
|
|
NM_001035.3(RYR2):c.2373C>T (p.Val791=)
|
rs770431899
|
0.00001
|
|
NM_001035.3(RYR2):c.2379T>C (p.Ser793=)
|
rs1230175710
|
0.00001
|
|
NM_001035.3(RYR2):c.2457T>C (p.Tyr819=)
|
rs776868355
|
0.00001
|
|
NM_001035.3(RYR2):c.2484A>G (p.Pro828=)
|
rs1323860626
|
0.00001
|
|
NM_001035.3(RYR2):c.2513G>A (p.Arg838Gln)
|
rs764043352
|
0.00001
|
|
NM_001035.3(RYR2):c.2551C>T (p.Leu851=)
|
rs1487401743
|
0.00001
|
|
NM_001035.3(RYR2):c.2562A>G (p.Thr854=)
|
rs727503398
|
0.00001
|
|
NM_001035.3(RYR2):c.2614-11G>C
|
rs778125348
|
0.00001
|
|
NM_001035.3(RYR2):c.2614-12T>C
|
rs928458049
|
0.00001
|
|
NM_001035.3(RYR2):c.2616C>T (p.Ile872=)
|
rs376641425
|
0.00001
|
|
NM_001035.3(RYR2):c.2632C>T (p.Leu878=)
|
rs376834009
|
0.00001
|
|
NM_001035.3(RYR2):c.2642T>G (p.Ile881Arg)
|
rs762792701
|
0.00001
|
|
NM_001035.3(RYR2):c.2698C>T (p.Leu900Phe)
|
rs754314526
|
0.00001
|
|
NM_001035.3(RYR2):c.2712T>C (p.Tyr904=)
|
rs758586059
|
0.00001
|
|
NM_001035.3(RYR2):c.2719-10C>A
|
rs898992768
|
0.00001
|
|
NM_001035.3(RYR2):c.2719-4T>A
|
rs397516523
|
0.00001
|
|
NM_001035.3(RYR2):c.274-10C>G
|
rs1699258662
|
0.00001
|
|
NM_001035.3(RYR2):c.2745C>T (p.His915=)
|
rs754398749
|
0.00001
|
|
NM_001035.3(RYR2):c.2784G>A (p.Glu928=)
|
rs1183256756
|
0.00001
|
|
NM_001035.3(RYR2):c.2808G>A (p.Ser936=)
|
rs1057521205
|
0.00001
|
|
NM_001035.3(RYR2):c.2922T>C (p.Ser974=)
|
rs750392459
|
0.00001
|
|
NM_001035.3(RYR2):c.294+13A>C
|
rs773161376
|
0.00001
|
|
NM_001035.3(RYR2):c.2949G>A (p.Leu983=)
|
rs926827556
|
0.00001
|
|
NM_001035.3(RYR2):c.295-8C>T
|
rs764545272
|
0.00001
|
|
NM_001035.3(RYR2):c.3015T>C (p.Asn1005=)
|
rs758290360
|
0.00001
|
|
NM_001035.3(RYR2):c.3057C>A (p.Gly1019=)
|
rs1343531428
|
0.00001
|
|
NM_001035.3(RYR2):c.3066+11A>G
|
rs764894788
|
0.00001
|
|
NM_001035.3(RYR2):c.3067-14G>C
|
rs757471501
|
0.00001
|
|
NM_001035.3(RYR2):c.3069C>T (p.Asp1023=)
|
rs751382226
|
0.00001
|
|
NM_001035.3(RYR2):c.309+16A>G
|
rs886038386
|
0.00001
|
|
NM_001035.3(RYR2):c.310-16T>G
|
rs1558698164
|
0.00001
|
|
NM_001035.3(RYR2):c.310-5T>G
|
rs1487803250
|
0.00001
|
|
NM_001035.3(RYR2):c.3105C>T (p.Tyr1035=)
|
rs747358776
|
0.00001
|
|
NM_001035.3(RYR2):c.3108T>C (p.Thr1036=)
|
rs1439044859
|
0.00001
|
|
NM_001035.3(RYR2):c.3151C>T (p.Arg1051Cys)
|
rs533330664
|
0.00001
|
|
NM_001035.3(RYR2):c.3214+9G>A
|
rs377240715
|
0.00001
|
|
NM_001035.3(RYR2):c.3226G>A (p.Glu1076Lys)
|
rs781547572
|
0.00001
|
|
NM_001035.3(RYR2):c.3238G>A (p.Gly1080Ser)
|
rs727504969
|
0.00001
|
|
NM_001035.3(RYR2):c.3240C>T (p.Gly1080=)
|
rs745511565
|
0.00001
|
|
NM_001035.3(RYR2):c.3294C>T (p.Ala1098=)
|
rs773622667
|
0.00001
|
|
NM_001035.3(RYR2):c.3417C>T (p.Gly1139=)
|
rs1368724013
|
0.00001
|
|
NM_001035.3(RYR2):c.3424-4A>G
|
rs1170393191
|
0.00001
|
|
NM_001035.3(RYR2):c.3456T>C (p.Tyr1152=)
|
rs762130498
|
0.00001
|
|
NM_001035.3(RYR2):c.3513C>T (p.His1171=)
|
rs924029503
|
0.00001
|
|
NM_001035.3(RYR2):c.3594C>T (p.Gly1198=)
|
rs185212949
|
0.00001
|
|
NM_001035.3(RYR2):c.3598+16T>G
|
rs886038387
|
0.00001
|
|
NM_001035.3(RYR2):c.3599-13T>C
|
rs1420645453
|
0.00001
|
|
NM_001035.3(RYR2):c.3622G>A (p.Gly1208Arg)
|
rs770286824
|
0.00001
|
|
NM_001035.3(RYR2):c.3648C>T (p.Asn1216=)
|
rs983874662
|
0.00001
|
|
NM_001035.3(RYR2):c.3735G>A (p.Arg1245=)
|
rs190884873
|
0.00001
|
|
NM_001035.3(RYR2):c.3807+20A>G
|
rs1377676188
|
0.00001
|
|
NM_001035.3(RYR2):c.3808-17G>A
|
rs374061574
|
0.00001
|
|
NM_001035.3(RYR2):c.3808-18C>T
|
rs996356470
|
0.00001
|
|
NM_001035.3(RYR2):c.3808-20A>G
|
rs1420964292
|
0.00001
|
|
NM_001035.3(RYR2):c.3808-9G>A
|
rs557880129
|
0.00001
|
|
NM_001035.3(RYR2):c.3890C>T (p.Thr1297Ile)
|
rs746350036
|
0.00001
|
|
NM_001035.3(RYR2):c.3910C>T (p.Leu1304=)
|
rs555317545
|
0.00001
|
|
NM_001035.3(RYR2):c.3924C>T (p.Ile1308=)
|
rs761010650
|
0.00001
|
|
NM_001035.3(RYR2):c.3930C>T (p.Cys1310=)
|
rs764454542
|
0.00001
|
|
NM_001035.3(RYR2):c.3932C>T (p.Ala1311Val)
|
rs757471928
|
0.00001
|
|
NM_001035.3(RYR2):c.3950C>T (p.Thr1317Met)
|
rs752107643
|
0.00001
|
|
NM_001035.3(RYR2):c.3987G>A (p.Gly1329=)
|
rs775470259
|
0.00001
|
|
NM_001035.3(RYR2):c.4095T>G (p.Ala1365=)
|
rs376401462
|
0.00001
|
|
NM_001035.3(RYR2):c.4097C>A (p.Thr1366Asn)
|
rs531412940
|
0.00001
|
|
NM_001035.3(RYR2):c.4161-17C>T
|
rs1237981976
|
0.00001
|
|
NM_001035.3(RYR2):c.4182G>A (p.Lys1394=)
|
rs953147627
|
0.00001
|
|
NM_001035.3(RYR2):c.4191C>T (p.Tyr1397=)
|
rs753181426
|
0.00001
|
|
NM_001035.3(RYR2):c.4209A>G (p.Ala1403=)
|
rs727505126
|
0.00001
|
|
NM_001035.3(RYR2):c.4215C>T (p.Leu1405=)
|
rs754504287
|
0.00001
|
|
NM_001035.3(RYR2):c.4266A>G (p.Gln1422=)
|
rs759662492
|
0.00001
|
|
NM_001035.3(RYR2):c.4275+7G>T
|
rs1573005697
|
0.00001
|
|
NM_001035.3(RYR2):c.4276-10A>G
|
rs551064291
|
0.00001
|
|
NM_001035.3(RYR2):c.4294A>C (p.Ile1432Leu)
|
rs769163639
|
0.00001
|
|
NM_001035.3(RYR2):c.4305A>G (p.Gly1435=)
|
rs776968385
|
0.00001
|
|
NM_001035.3(RYR2):c.4359T>C (p.Tyr1453=)
|
rs1054102228
|
0.00001
|
|
NM_001035.3(RYR2):c.4387C>T (p.Arg1463Cys)
|
rs764144130
|
0.00001
|
|
NM_001035.3(RYR2):c.4389C>T (p.Arg1463=)
|
rs1391863207
|
0.00001
|
|
NM_001035.3(RYR2):c.4398A>G (p.Thr1466=)
|
rs1431223559
|
0.00001
|
|
NM_001035.3(RYR2):c.4428G>A (p.Val1476=)
|
rs747148516
|
0.00001
|
|
NM_001035.3(RYR2):c.4444C>T (p.Arg1482Cys)
|
rs564869863
|
0.00001
|
|
NM_001035.3(RYR2):c.4452C>T (p.Asn1484=)
|
rs1291160405
|
0.00001
|
|
NM_001035.3(RYR2):c.4458T>C (p.Tyr1486=)
|
rs780368223
|
0.00001
|
|
NM_001035.3(RYR2):c.4503C>A (p.Asn1501Lys)
|
rs794728735
|
0.00001
|
|
NM_001035.3(RYR2):c.4587A>G (p.Thr1529=)
|
rs373148393
|
0.00001
|
|
NM_001035.3(RYR2):c.4596+16T>C
|
rs755095790
|
0.00001
|
|
NM_001035.3(RYR2):c.4626G>A (p.Ala1542=)
|
rs1272771676
|
0.00001
|
|
NM_001035.3(RYR2):c.463+10T>C
|
rs193922627
|
0.00001
|
|
NM_001035.3(RYR2):c.4641T>G (p.Ala1547=)
|
rs1676561693
|
0.00001
|
|
NM_001035.3(RYR2):c.4653T>C (p.Asn1551=)
|
rs759834317
|
0.00001
|
|
NM_001035.3(RYR2):c.4668G>A (p.Glu1556=)
|
rs370332700
|
0.00001
|
|
NM_001035.3(RYR2):c.4680A>C (p.Ile1560=)
|
rs754412394
|
0.00001
|
|
NM_001035.3(RYR2):c.4683+18T>C
|
rs371394153
|
0.00001
|
|
NM_001035.3(RYR2):c.4683+7A>T
|
rs757658900
|
0.00001
|
|
NM_001035.3(RYR2):c.4684-4C>T
|
rs748788260
|
0.00001
|
|
NM_001035.3(RYR2):c.468G>A (p.Glu156=)
|
rs763840882
|
0.00001
|
|
NM_001035.3(RYR2):c.4701G>A (p.Ser1567=)
|
rs775379095
|
0.00001
|
|
NM_001035.3(RYR2):c.4710A>G (p.Leu1570=)
|
rs1401322778
|
0.00001
|
|
NM_001035.3(RYR2):c.4752G>A (p.Pro1584=)
|
rs780111656
|
0.00001
|
|
NM_001035.3(RYR2):c.4779C>T (p.His1593=)
|
rs769774527
|
0.00001
|
|
NM_001035.3(RYR2):c.4780G>A (p.Val1594Ile)
|
rs794728737
|
0.00001
|
|
NM_001035.3(RYR2):c.4791C>T (p.Ser1597=)
|
rs766910108
|
0.00001
|
|
NM_001035.3(RYR2):c.48+11T>A
|
rs1273557361
|
0.00001
|
|
NM_001035.3(RYR2):c.483C>T (p.Thr161=)
|
rs780513819
|
0.00001
|
|
NM_001035.3(RYR2):c.49-10C>T
|
rs760891474
|
0.00001
|
|
NM_001035.3(RYR2):c.49-8C>T
|
rs764876896
|
0.00001
|
|
NM_001035.3(RYR2):c.4905A>G (p.Glu1635=)
|
rs1028004368
|
0.00001
|
|
NM_001035.3(RYR2):c.5046A>C (p.Glu1682Asp)
|
rs3766870
|
0.00001
|
|
NM_001035.3(RYR2):c.513A>G (p.Glu171=)
|
rs923459089
|
0.00001
|
|
NM_001035.3(RYR2):c.5149G>T (p.Ala1717Ser)
|
rs547829995
|
0.00001
|
|
NM_001035.3(RYR2):c.5235A>G (p.Lys1745=)
|
rs755089780
|
0.00001
|
|
NM_001035.3(RYR2):c.5247A>G (p.Pro1749=)
|
rs779576294
|
0.00001
|
|
NM_001035.3(RYR2):c.5268C>G (p.Ser1756=)
|
rs768147036
|
0.00001
|
|
NM_001035.3(RYR2):c.5279G>A (p.Arg1760Gln)
|
rs765106198
|
0.00001
|
|
NM_001035.3(RYR2):c.5298C>T (p.Pro1766=)
|
rs570743152
|
0.00001
|
|
NM_001035.3(RYR2):c.5336G>A (p.Ser1779Asn)
|
rs778312204
|
0.00001
|
|
NM_001035.3(RYR2):c.5420G>A (p.Arg1807Gln)
|
rs730880192
|
0.00001
|
|
NM_001035.3(RYR2):c.5466C>T (p.Ile1822=)
|
rs1481865807
|
0.00001
|
|
NM_001035.3(RYR2):c.5487G>T (p.Leu1829=)
|
rs371250741
|
0.00001
|
|
NM_001035.3(RYR2):c.5499C>A (p.Ile1833=)
|
rs974906491
|
0.00001
|
|
NM_001035.3(RYR2):c.555C>T (p.Ser185=)
|
rs369484232
|
0.00001
|
|
NM_001035.3(RYR2):c.5589G>T (p.Thr1863=)
|
rs778971089
|
0.00001
|
|
NM_001035.3(RYR2):c.5595G>A (p.Glu1865=)
|
rs1054011849
|
0.00001
|
|
NM_001035.3(RYR2):c.5598A>G (p.Lys1866=)
|
rs1573126569
|
0.00001
|
|
NM_001035.3(RYR2):c.561C>T (p.Ser187=)
|
rs1303356039
|
0.00001
|
|
NM_001035.3(RYR2):c.5645A>G (p.Glu1882Gly)
|
rs376441643
|
0.00001
|
|
NM_001035.3(RYR2):c.5664G>C (p.Arg1888=)
|
rs758277755
|
0.00001
|
|
NM_001035.3(RYR2):c.5700G>A (p.Glu1900=)
|
rs769862888
|
0.00001
|
|
NM_001035.3(RYR2):c.5710T>C (p.Leu1904=)
|
rs1286936034
|
0.00001
|
|
NM_001035.3(RYR2):c.5712G>A (p.Leu1904=)
|
rs377763336
|
0.00001
|
|
NM_001035.3(RYR2):c.5715+11C>T
|
rs766754503
|
0.00001
|
|
NM_001035.3(RYR2):c.5751G>T (p.Gln1917His)
|
rs1259517167
|
0.00001
|
|
NM_001035.3(RYR2):c.5763G>A (p.Arg1921=)
|
rs886046270
|
0.00001
|
|
NM_001035.3(RYR2):c.5821C>A (p.Arg1941Ser)
|
rs754811291
|
0.00001
|
|
NM_001035.3(RYR2):c.5874A>C (p.Thr1958=)
|
rs746302767
|
0.00001
|
|
NM_001035.3(RYR2):c.5916+9A>G
|
rs1002006336
|
0.00001
|
|
NM_001035.3(RYR2):c.5933A>G (p.Asn1978Ser)
|
rs773006920
|
0.00001
|
|
NM_001035.3(RYR2):c.5977C>T (p.Arg1993Cys)
|
rs767406030
|
0.00001
|
|
NM_001035.3(RYR2):c.6023-7A>G
|
rs771502164
|
0.00001
|
|
NM_001035.3(RYR2):c.6042T>C (p.Asp2014=)
|
rs376907409
|
0.00001
|
|
NM_001035.3(RYR2):c.6096G>C (p.Leu2032=)
|
rs1482965096
|
0.00001
|
|
NM_001035.3(RYR2):c.6159A>G (p.Lys2053=)
|
rs779498979
|
0.00001
|
|
NM_001035.3(RYR2):c.6167-15A>G
|
rs1559136122
|
0.00001
|
|
NM_001035.3(RYR2):c.6167-4G>A
|
rs1290343163
|
0.00001
|
|
NM_001035.3(RYR2):c.6174G>A (p.Leu2058=)
|
rs531705847
|
0.00001
|
|
NM_001035.3(RYR2):c.6267T>C (p.His2089=)
|
rs1222494774
|
0.00001
|
|
NM_001035.3(RYR2):c.6321G>A (p.Thr2107=)
|
rs764476121
|
0.00001
|
|
NM_001035.3(RYR2):c.6336C>T (p.Ser2112=)
|
rs373777614
|
0.00001
|
|
NM_001035.3(RYR2):c.6346A>G (p.Thr2116Ala)
|
rs780707255
|
0.00001
|
|
NM_001035.3(RYR2):c.6393T>C (p.Ser2131=)
|
rs370087757
|
0.00001
|
|
NM_001035.3(RYR2):c.6430C>T (p.Arg2144Cys)
|
rs770847446
|
0.00001
|
|
NM_001035.3(RYR2):c.6468C>T (p.Tyr2156=)
|
rs1057522408
|
0.00001
|
|
NM_001035.3(RYR2):c.6504C>T (p.His2168=)
|
rs760237464
|
0.00001
|
|
NM_001035.3(RYR2):c.6534C>T (p.Val2178=)
|
rs904724019
|
0.00001
|
|
NM_001035.3(RYR2):c.6556-15A>G
|
rs1431223272
|
0.00001
|
|
NM_001035.3(RYR2):c.6606C>T (p.Tyr2202=)
|
rs1270857666
|
0.00001
|
|
NM_001035.3(RYR2):c.6618A>C (p.Ile2206=)
|
rs778352961
|
0.00001
|
|
NM_001035.3(RYR2):c.6688+13C>A
|
rs1262322008
|
0.00001
|
|
NM_001035.3(RYR2):c.6786A>G (p.Leu2262=)
|
rs747343896
|
0.00001
|
|
NM_001035.3(RYR2):c.6793-17_6793-16dup
|
rs761591314
|
0.00001
|
|
NM_001035.3(RYR2):c.6825A>G (p.Gln2275=)
|
rs529339356
|
0.00001
|
|
NM_001035.3(RYR2):c.6903T>C (p.Phe2301=)
|
rs1681104404
|
0.00001
|
|
NM_001035.3(RYR2):c.6981G>A (p.Arg2327=)
|
rs1198957149
|
0.00001
|
|
NM_001035.3(RYR2):c.7029T>A (p.Leu2343=)
|
rs1376856675
|
0.00001
|
|
NM_001035.3(RYR2):c.7185G>A (p.Leu2395=)
|
rs769210153
|
0.00001
|
|
NM_001035.3(RYR2):c.7230T>C (p.His2410=)
|
rs754982634
|
0.00001
|
|
NM_001035.3(RYR2):c.7236G>A (p.Gly2412=)
|
rs1553265780
|
0.00001
|
|
NM_001035.3(RYR2):c.7260G>A (p.Arg2420=)
|
rs771684537
|
0.00001
|
|
NM_001035.3(RYR2):c.7290A>G (p.Gly2430=)
|
rs765196007
|
0.00001
|
|
NM_001035.3(RYR2):c.7302C>T (p.Gly2434=)
|
rs766592875
|
0.00001
|
|
NM_001035.3(RYR2):c.7359A>G (p.Glu2453=)
|
rs779456443
|
0.00001
|
|
NM_001035.3(RYR2):c.7374G>A (p.Ala2458=)
|
rs780891381
|
0.00001
|
|
NM_001035.3(RYR2):c.7377G>A (p.Gly2459=)
|
rs747614796
|
0.00001
|
|
NM_001035.3(RYR2):c.7443A>G (p.Gln2481=)
|
rs759314800
|
0.00001
|
|
NM_001035.3(RYR2):c.7512+14G>A
|
rs748775701
|
0.00001
|
|
NM_001035.3(RYR2):c.7578A>G (p.Pro2526=)
|
rs763555863
|
0.00001
|
|
NM_001035.3(RYR2):c.75C>T (p.Thr25=)
|
rs751027523
|
0.00001
|
|
NM_001035.3(RYR2):c.773+18T>C
|
rs758435186
|
0.00001
|
|
NM_001035.3(RYR2):c.7782T>C (p.Phe2594=)
|
rs1320297410
|
0.00001
|
|
NM_001035.3(RYR2):c.7807G>A (p.Ala2603Thr)
|
rs59331340
|
0.00001
|
|
NM_001035.3(RYR2):c.7825-5C>T
|
rs1288446861
|
0.00001
|
|
NM_001035.3(RYR2):c.795C>T (p.Gly265=)
|
rs189449390
|
0.00001
|
|
NM_001035.3(RYR2):c.796G>A (p.Ala266Thr)
|
rs373326624
|
0.00001
|
|
NM_001035.3(RYR2):c.8019G>A (p.Ala2673=)
|
rs745484020
|
0.00001
|
|
NM_001035.3(RYR2):c.8028G>A (p.Leu2676=)
|
rs775159757
|
0.00001
|
|
NM_001035.3(RYR2):c.8058C>T (p.Val2686=)
|
rs761566087
|
0.00001
|
|
NM_001035.3(RYR2):c.8129+20C>A
|
rs755080362
|
0.00001
|
|
NM_001035.3(RYR2):c.8130-5C>T
|
rs1683411935
|
0.00001
|
|
NM_001035.3(RYR2):c.8149T>C (p.Leu2717=)
|
rs1296293752
|
0.00001
|
|
NM_001035.3(RYR2):c.819C>T (p.Ser273=)
|
rs746461178
|
0.00001
|
|
NM_001035.3(RYR2):c.8209-9T>C
|
rs1184943114
|
0.00001
|
|
NM_001035.3(RYR2):c.8283G>A (p.Lys2761=)
|
rs780778878
|
0.00001
|
|
NM_001035.3(RYR2):c.8287T>C (p.Leu2763=)
|
rs1057520868
|
0.00001
|
|
NM_001035.3(RYR2):c.8298+16T>C
|
rs775650063
|
0.00001
|
|
NM_001035.3(RYR2):c.8325C>T (p.Ile2775=)
|
rs1474322992
|
0.00001
|
|
NM_001035.3(RYR2):c.836C>A (p.Thr279Lys)
|
rs754312807
|
0.00001
|
|
NM_001035.3(RYR2):c.8450C>T (p.Ala2817Val)
|
rs765782802
|
0.00001
|
|
NM_001035.3(RYR2):c.8496A>G (p.Thr2832=)
|
rs375915461
|
0.00001
|
|
NM_001035.3(RYR2):c.8559A>C (p.Ala2853=)
|
rs1381591533
|
0.00001
|
|
NM_001035.3(RYR2):c.8568G>A (p.Lys2856=)
|
rs887194766
|
0.00001
|
|
NM_001035.3(RYR2):c.8583G>A (p.Glu2861=)
|
rs1312234082
|
0.00001
|
|
NM_001035.3(RYR2):c.8591-6T>C
|
rs371383631
|
0.00001
|
|
NM_001035.3(RYR2):c.8631G>A (p.Leu2877=)
|
rs1060503848
|
0.00001
|
|
NM_001035.3(RYR2):c.8652G>A (p.Lys2884=)
|
rs758284122
|
0.00001
|
|
NM_001035.3(RYR2):c.865A>G (p.Ile289Val)
|
rs767673456
|
0.00001
|
|
NM_001035.3(RYR2):c.8714+13A>G
|
rs876657579
|
0.00001
|
|
NM_001035.3(RYR2):c.8714+20A>G
|
rs1176577543
|
0.00001
|
|
NM_001035.3(RYR2):c.8714+9A>T
|
rs541149328
|
0.00001
|
|
NM_001035.3(RYR2):c.8715-16_8715-14dup
|
rs1236198880
|
0.00001
|
|
NM_001035.3(RYR2):c.8715-7C>G
|
rs1015823961
|
0.00001
|
|
NM_001035.3(RYR2):c.8734C>T (p.Leu2912=)
|
rs772605413
|
0.00001
|
|
NM_001035.3(RYR2):c.8736G>A (p.Leu2912=)
|
rs762521873
|
0.00001
|
|
NM_001035.3(RYR2):c.876A>T (p.Gly292=)
|
rs1306804742
|
0.00001
|
|
NM_001035.3(RYR2):c.8792G>T (p.Arg2931Leu)
|
rs905226907
|
0.00001
|
|
NM_001035.3(RYR2):c.8805A>G (p.Glu2935=)
|
rs915071961
|
0.00001
|
|
NM_001035.3(RYR2):c.8816A>G (p.Tyr2939Cys)
|
rs375408791
|
0.00001
|
|
NM_001035.3(RYR2):c.8831-4A>G
|
rs1253963504
|
0.00001
|
|
NM_001035.3(RYR2):c.8896-9T>C
|
rs773401697
|
0.00001
|
|
NM_001035.3(RYR2):c.8899G>A (p.Val2967Ile)
|
rs751546090
|
0.00001
|
|
NM_001035.3(RYR2):c.894C>T (p.Arg298=)
|
rs758606310
|
0.00001
|
|
NM_001035.3(RYR2):c.9021A>G (p.Leu3007=)
|
rs748115355
|
0.00001
|
|
NM_001035.3(RYR2):c.9129-18C>G
|
rs780255237
|
0.00001
|
|
NM_001035.3(RYR2):c.9129-5T>C
|
rs1687846483
|
0.00001
|
|
NM_001035.3(RYR2):c.9156T>C (p.Ser3052=)
|
rs760836447
|
0.00001
|
|
NM_001035.3(RYR2):c.9213C>T (p.Thr3071=)
|
rs759125855
|
0.00001
|
|
NM_001035.3(RYR2):c.9246C>T (p.His3082=)
|
rs1409285303
|
0.00001
|
|
NM_001035.3(RYR2):c.9284A>G (p.Asn3095Ser)
|
rs778591641
|
0.00001
|
|
NM_001035.3(RYR2):c.9293C>T (p.Thr3098Ile)
|
rs1227241969
|
0.00001
|
|
NM_001035.3(RYR2):c.9295G>C (p.Val3099Leu)
|
rs745616771
|
0.00001
|
|
NM_001035.3(RYR2):c.9351C>T (p.Phe3117=)
|
rs773455753
|
0.00001
|
|
NM_001035.3(RYR2):c.939C>T (p.Asn313=)
|
rs925308875
|
0.00001
|
|
NM_001035.3(RYR2):c.9414T>C (p.Tyr3138=)
|
rs770274059
|
0.00001
|
|
NM_001035.3(RYR2):c.9432G>A (p.Lys3144=)
|
rs367780360
|
0.00001
|
|
NM_001035.3(RYR2):c.9492T>G (p.Gly3164=)
|
rs1252667379
|
0.00001
|
|
NM_001035.3(RYR2):c.9549C>T (p.Ile3183=)
|
rs1360654111
|
0.00001
|
|
NM_001035.3(RYR2):c.9603G>A (p.Val3201=)
|
rs369285719
|
0.00001
|
|
NM_001035.3(RYR2):c.9621C>T (p.Asn3207=)
|
rs1370012835
|
0.00001
|
|
NM_001035.3(RYR2):c.9627G>A (p.Pro3209=)
|
rs377730320
|
0.00001
|
|
NM_001035.3(RYR2):c.9667G>A (p.Glu3223Lys)
|
rs556291797
|
0.00001
|
|
NM_001035.3(RYR2):c.9679C>T (p.Arg3227Cys)
|
rs747271394
|
0.00001
|
|
NM_001035.3(RYR2):c.9768C>T (p.Asn3256=)
|
rs574525966
|
0.00001
|
|
NM_001035.3(RYR2):c.9778C>T (p.Arg3260Trp)
|
rs765325906
|
0.00001
|
|
NM_001035.3(RYR2):c.9813G>A (p.Glu3271=)
|
rs757310700
|
0.00001
|
|
NM_001035.3(RYR2):c.9817A>G (p.Met3273Val)
|
rs1365049763
|
0.00001
|
|
NM_001035.3(RYR2):c.9841T>C (p.Leu3281=)
|
rs786205424
|
0.00001
|
|
NM_001035.3(RYR2):c.9901+11G>A
|
rs765377031
|
0.00001
|
|
NM_001035.3(RYR2):c.9902-14C>T
|
rs1190539351
|
0.00001
|
|
NM_001035.3(RYR2):c.9902-7T>C
|
rs1026024594
|
0.00001
|
|
NM_001035.3(RYR2):c.9903G>A (p.Val3301=)
|
rs756970130
|
0.00001
|
|
NM_001035.3(RYR2):c.9927A>G (p.Lys3309=)
|
rs184937795
|
0.00001
|
|
NM_001035.3(RYR2):c.9936T>A (p.Pro3312=)
|
rs967337973
|
0.00001
|
|
NM_001035.3(RYR2):c.9942C>G (p.Leu3314=)
|
rs746973997
|
0.00001
|
|
NM_001035.3(RYR2):c.9993T>C (p.Ala3331=)
|
rs369150213
|
0.00001
|
|
NM_001103.4(ACTN2):c.1031A>G (p.Asn344Ser)
|
rs886046206
|
0.00001
|
|
NM_001103.4(ACTN2):c.1059G>A (p.Arg353=)
|
rs1441845374
|
0.00001
|
|
NM_001103.4(ACTN2):c.1089C>T (p.Ser363=)
|
rs397516562
|
0.00001
|
|
NM_001103.4(ACTN2):c.1090G>A (p.Glu364Lys)
|
rs572523462
|
0.00001
|
|
NM_001103.4(ACTN2):c.1099A>G (p.Met367Val)
|
rs771923322
|
0.00001
|
|
NM_001103.4(ACTN2):c.1107+14G>A
|
rs372703561
|
0.00001
|
|
NM_001103.4(ACTN2):c.1131G>A (p.Arg377=)
|
rs374831016
|
0.00001
|
|
NM_001103.4(ACTN2):c.1145A>G (p.Glu382Gly)
|
rs766953315
|
0.00001
|
|
NM_001103.4(ACTN2):c.1193G>A (p.Arg398His)
|
rs752906680
|
0.00001
|
|
NM_001103.4(ACTN2):c.1195T>C (p.Leu399=)
|
rs1486800362
|
0.00001
|
|
NM_001103.4(ACTN2):c.1228G>T (p.Ala410Ser)
|
rs1258500915
|
0.00001
|
|
NM_001103.4(ACTN2):c.1236G>A (p.Thr412=)
|
rs143566058
|
0.00001
|
|
NM_001103.4(ACTN2):c.1256-12C>T
|
rs749509401
|
0.00001
|
|
NM_001103.4(ACTN2):c.1256-13A>T
|
rs778085872
|
0.00001
|
|
NM_001103.4(ACTN2):c.1256-19C>T
|
rs1463283552
|
0.00001
|
|
NM_001103.4(ACTN2):c.126+15G>A
|
rs745563404
|
0.00001
|
|
NM_001103.4(ACTN2):c.126+16C>T
|
rs1475029814
|
0.00001
|
|
NM_001103.4(ACTN2):c.1263G>A (p.Glu421=)
|
rs572642643
|
0.00001
|
|
NM_001103.4(ACTN2):c.127-8C>G
|
rs768145349
|
0.00001
|
|
NM_001103.4(ACTN2):c.1284T>C (p.Asp428=)
|
rs769334150
|
0.00001
|
|
NM_001103.4(ACTN2):c.1290G>A (p.Glu430=)
|
rs765911535
|
0.00001
|
|
NM_001103.4(ACTN2):c.1299G>A (p.Ser433=)
|
rs1161300633
|
0.00001
|
|
NM_001103.4(ACTN2):c.1305A>G (p.Thr435=)
|
rs12043223
|
0.00001
|
|
NM_001103.4(ACTN2):c.1312C>T (p.Arg438Trp)
|
rs563171274
|
0.00001
|
|
NM_001103.4(ACTN2):c.1325G>A (p.Arg442Gln)
|
rs776947613
|
0.00001
|
|
NM_001103.4(ACTN2):c.1332C>T (p.His444=)
|
rs373709019
|
0.00001
|
|
NM_001103.4(ACTN2):c.1333G>A (p.Glu445Lys)
|
rs773942709
|
0.00001
|
|
NM_001103.4(ACTN2):c.1337C>T (p.Ala446Val)
|
rs767041933
|
0.00001
|
|
NM_001103.4(ACTN2):c.1338G>A (p.Ala446=)
|
rs397516566
|
0.00001
|
|
NM_001103.4(ACTN2):c.1347C>T (p.Ser449=)
|
rs796733553
|
0.00001
|
|
NM_001103.4(ACTN2):c.1359G>A (p.Ala453=)
|
rs780174131
|
0.00001
|
|
NM_001103.4(ACTN2):c.1369C>T (p.Arg457Cys)
|
rs769126818
|
0.00001
|
|
NM_001103.4(ACTN2):c.1384G>T (p.Ala462Ser)
|
rs376923220
|
0.00001
|
|
NM_001103.4(ACTN2):c.1392C>T (p.Ile464=)
|
rs764086805
|
0.00001
|
|
NM_001103.4(ACTN2):c.1393G>A (p.Ala465Thr)
|
rs371434667
|
0.00001
|
|
NM_001103.4(ACTN2):c.1406+20G>A
|
rs748640670
|
0.00001
|
|
NM_001103.4(ACTN2):c.1422C>T (p.His474=)
|
rs1282303942
|
0.00001
|
|
NM_001103.4(ACTN2):c.1439A>G (p.Asn480Ser)
|
rs1197619498
|
0.00001
|
|
NM_001103.4(ACTN2):c.1467G>A (p.Gln489=)
|
rs1455939600
|
0.00001
|
|
NM_001103.4(ACTN2):c.1549C>T (p.Leu517Phe)
|
rs759778745
|
0.00001
|
|
NM_001103.4(ACTN2):c.1552C>T (p.His518Tyr)
|
rs573836993
|
0.00001
|
|
NM_001103.4(ACTN2):c.1586A>G (p.Asn529Ser)
|
rs200143657
|
0.00001
|
|
NM_001103.4(ACTN2):c.1600G>A (p.Gly534Ser)
|
rs376596726
|
0.00001
|
|
NM_001103.4(ACTN2):c.1614T>C (p.Asp538=)
|
rs368615266
|
0.00001
|
|
NM_001103.4(ACTN2):c.1624A>G (p.Met542Val)
|
rs770807444
|
0.00001
|
|
NM_001103.4(ACTN2):c.1625T>G (p.Met542Arg)
|
rs778713804
|
0.00001
|
|
NM_001103.4(ACTN2):c.1632T>C (p.Ile544=)
|
rs372229326
|
0.00001
|
|
NM_001103.4(ACTN2):c.1656+10C>A
|
rs979678081
|
0.00001
|
|
NM_001103.4(ACTN2):c.1656+11C>T
|
rs760799261
|
0.00001
|
|
NM_001103.4(ACTN2):c.1656+2_1656+8dup
|
rs1255329746
|
0.00001
|
|
NM_001103.4(ACTN2):c.1657-9C>T
|
rs777367297
|
0.00001
|
|
NM_001103.4(ACTN2):c.1691C>T (p.Thr564Met)
|
rs876661341
|
0.00001
|
|
NM_001103.4(ACTN2):c.1693C>T (p.Leu565=)
|
rs546293678
|
0.00001
|
|
NM_001103.4(ACTN2):c.1707C>T (p.Asp569=)
|
rs773915011
|
0.00001
|
|
NM_001103.4(ACTN2):c.1803T>C (p.Thr601=)
|
rs1289087755
|
0.00001
|
|
NM_001103.4(ACTN2):c.1809C>T (p.Thr603=)
|
rs1240708380
|
0.00001
|
|
NM_001103.4(ACTN2):c.1812G>A (p.Met604Ile)
|
rs751385957
|
0.00001
|
|
NM_001103.4(ACTN2):c.1823G>A (p.Arg608Gln)
|
rs529944004
|
0.00001
|
|
NM_001103.4(ACTN2):c.1840-10G>A
|
rs1287403917
|
0.00001
|
|
NM_001103.4(ACTN2):c.1852G>A (p.Val618Met)
|
rs1178612038
|
0.00001
|
|
NM_001103.4(ACTN2):c.1857C>A (p.Pro619=)
|
rs1659474774
|
0.00001
|
|
NM_001103.4(ACTN2):c.1863C>T (p.Arg621=)
|
rs1161843319
|
0.00001
|
|
NM_001103.4(ACTN2):c.1905C>T (p.Asn635=)
|
rs772586220
|
0.00001
|
|
NM_001103.4(ACTN2):c.1910G>A (p.Arg637His)
|
rs1259556889
|
0.00001
|
|
NM_001103.4(ACTN2):c.1938C>T (p.Ala646=)
|
rs958797222
|
0.00001
|
|
NM_001103.4(ACTN2):c.1948G>C (p.Gly650Arg)
|
rs1173244523
|
0.00001
|
|
NM_001103.4(ACTN2):c.1975-5C>G
|
rs369148572
|
0.00001
|
|
NM_001103.4(ACTN2):c.2035A>C (p.Lys679Gln)
|
rs549698133
|
0.00001
|
|
NM_001103.4(ACTN2):c.2054T>C (p.Ile685Thr)
|
rs1057523250
|
0.00001
|
|
NM_001103.4(ACTN2):c.2082G>C (p.Lys694Asn)
|
rs748034053
|
0.00001
|
|
NM_001103.4(ACTN2):c.2157C>T (p.His719=)
|
rs527771492
|
0.00001
|
|
NM_001103.4(ACTN2):c.2205C>A (p.Ile735=)
|
rs757083123
|
0.00001
|
|
NM_001103.4(ACTN2):c.2226C>T (p.Ile742=)
|
rs376982788
|
0.00001
|
|
NM_001103.4(ACTN2):c.2232G>A (p.Thr744=)
|
rs144676770
|
0.00001
|
|
NM_001103.4(ACTN2):c.2241G>A (p.Ala747=)
|
rs767011628
|
0.00001
|
|
NM_001103.4(ACTN2):c.2247C>T (p.Gly749=)
|
rs1158361465
|
0.00001
|
|
NM_001103.4(ACTN2):c.2306A>C (p.Lys769Thr)
|
rs397516573
|
0.00001
|
|
NM_001103.4(ACTN2):c.2314C>T (p.Leu772=)
|
rs1271493806
|
0.00001
|
|
NM_001103.4(ACTN2):c.2346G>T (p.Leu782=)
|
rs1469965295
|
0.00001
|
|
NM_001103.4(ACTN2):c.241+8T>C
|
rs772934028
|
0.00001
|
|
NM_001103.4(ACTN2):c.2413G>A (p.Gly805Arg)
|
rs769239899
|
0.00001
|
|
NM_001103.4(ACTN2):c.242-6C>T
|
rs1057521158
|
0.00001
|
|
NM_001103.4(ACTN2):c.2424C>T (p.Thr808=)
|
rs202204431
|
0.00001
|
|
NM_001103.4(ACTN2):c.2449T>C (p.Phe817Leu)
|
rs757713931
|
0.00001
|
|
NM_001103.4(ACTN2):c.2475C>T (p.Thr825=)
|
rs758805815
|
0.00001
|
|
NM_001103.4(ACTN2):c.2477A>T (p.Asp826Val)
|
rs372348405
|
0.00001
|
|
NM_001103.4(ACTN2):c.2484C>T (p.Ala828=)
|
rs397516576
|
0.00001
|
|
NM_001103.4(ACTN2):c.2526+12C>T
|
rs567528320
|
0.00001
|
|
NM_001103.4(ACTN2):c.2526+9T>C
|
rs1246614050
|
0.00001
|
|
NM_001103.4(ACTN2):c.2527-4C>T
|
rs375928466
|
0.00001
|
|
NM_001103.4(ACTN2):c.2573A>C (p.Gln858Pro)
|
rs769940120
|
0.00001
|
|
NM_001103.4(ACTN2):c.2594G>C (p.Arg865Thr)
|
rs752937110
|
0.00001
|
|
NM_001103.4(ACTN2):c.2661A>C (p.Ala887=)
|
rs760091931
|
0.00001
|
|
NM_001103.4(ACTN2):c.2667C>T (p.Tyr889=)
|
rs560852363
|
0.00001
|
|
NM_001103.4(ACTN2):c.266G>A (p.Arg89Gln)
|
rs772390012
|
0.00001
|
|
NM_001103.4(ACTN2):c.362-13T>G
|
rs1472701882
|
0.00001
|
|
NM_001103.4(ACTN2):c.375C>A (p.Gly125=)
|
rs781385336
|
0.00001
|
|
NM_001103.4(ACTN2):c.440C>T (p.Ser147Leu)
|
rs749667083
|
0.00001
|
|
NM_001103.4(ACTN2):c.537-16C>T
|
rs1057521958
|
0.00001
|
|
NM_001103.4(ACTN2):c.537-17T>A
|
rs752920763
|
0.00001
|
|
NM_001103.4(ACTN2):c.537-4G>A
|
rs1282585643
|
0.00001
|
|
NM_001103.4(ACTN2):c.558C>G (p.Leu186=)
|
rs747818782
|
0.00001
|
|
NM_001103.4(ACTN2):c.564C>T (p.Ala188=)
|
rs769536954
|
0.00001
|
|
NM_001103.4(ACTN2):c.570C>A (p.Ile190=)
|
rs762515240
|
0.00001
|
|
NM_001103.4(ACTN2):c.575G>A (p.Arg192Gln)
|
rs200316891
|
0.00001
|
|
NM_001103.4(ACTN2):c.654C>T (p.Ile218=)
|
rs1195889818
|
0.00001
|
|
NM_001103.4(ACTN2):c.731C>T (p.Ala244Val)
|
rs938796645
|
0.00001
|
|
NM_001103.4(ACTN2):c.741G>A (p.Thr247=)
|
rs777426844
|
0.00001
|
|
NM_001103.4(ACTN2):c.753C>T (p.Cys251=)
|
rs397516583
|
0.00001
|
|
NM_001103.4(ACTN2):c.774C>T (p.Gly258=)
|
rs776005605
|
0.00001
|
|
NM_001103.4(ACTN2):c.780G>C (p.Glu260Asp)
|
rs1242086183
|
0.00001
|
|
NM_001103.4(ACTN2):c.784-4A>G
|
rs1396316316
|
0.00001
|
|
NM_001103.4(ACTN2):c.877-4G>A
|
rs372070498
|
0.00001
|
|
NM_001103.4(ACTN2):c.896G>A (p.Arg299His)
|
rs746677039
|
0.00001
|
|
NM_001103.4(ACTN2):c.980G>A (p.Arg327His)
|
rs554811924
|
0.00001
|
|
NM_001103.4(ACTN2):c.982C>T (p.Arg328Trp)
|
rs770855273
|
0.00001
|
|
NM_001103.4(ACTN2):c.987G>A (p.Lys329=)
|
rs1185341467
|
0.00001
|
|
NM_001105206.3(LAMA4):c.1077+8T>C
|
rs1427574029
|
0.00001
|
|
NM_001105206.3(LAMA4):c.123G>A (p.Ala41=)
|
rs782419664
|
0.00001
|
|
NM_001105206.3(LAMA4):c.169C>T (p.Leu57=)
|
rs1554190464
|
0.00001
|
|
NM_001105206.3(LAMA4):c.1782A>G (p.Ala594=)
|
rs1409892457
|
0.00001
|
|
NM_001105206.3(LAMA4):c.1803T>C (p.Ala601=)
|
rs782495617
|
0.00001
|
|
NM_001105206.3(LAMA4):c.1818-12G>C
|
rs782820090
|
0.00001
|
|
NM_001105206.3(LAMA4):c.1818-16G>A
|
rs1417950801
|
0.00001
|
|
NM_001105206.3(LAMA4):c.1854G>A (p.Gln618=)
|
rs587781014
|
0.00001
|
|
NM_001105206.3(LAMA4):c.195+16C>T
|
rs1297174280
|
0.00001
|
|
NM_001105206.3(LAMA4):c.1960-5T>C
|
rs1163672028
|
0.00001
|
|
NM_001105206.3(LAMA4):c.2146G>A (p.Val716Ile)
|
rs141742906
|
0.00001
|
|
NM_001105206.3(LAMA4):c.222C>G (p.Thr74=)
|
rs1784629877
|
0.00001
|
|
NM_001105206.3(LAMA4):c.2354-19T>C
|
rs192622568
|
0.00001
|
|
NM_001105206.3(LAMA4):c.2367C>T (p.Thr789=)
|
rs1468663390
|
0.00001
|
|
NM_001105206.3(LAMA4):c.2400T>C (p.Arg800=)
|
rs1779927012
|
0.00001
|
|
NM_001105206.3(LAMA4):c.2460G>A (p.Glu820=)
|
rs1554334108
|
0.00001
|
|
NM_001105206.3(LAMA4):c.2544G>A (p.Ser848=)
|
rs111587919
|
0.00001
|
|
NM_001105206.3(LAMA4):c.2577G>A (p.Thr859=)
|
rs397516724
|
0.00001
|
|
NM_001105206.3(LAMA4):c.2668-13C>A
|
rs782264610
|
0.00001
|
|
NM_001105206.3(LAMA4):c.267C>T (p.Asn89=)
|
rs727503114
|
0.00001
|
|
NM_001105206.3(LAMA4):c.2724T>C (p.Tyr908=)
|
rs782740441
|
0.00001
|
|
NM_001105206.3(LAMA4):c.2745G>A (p.Val915=)
|
rs1554333214
|
0.00001
|
|
NM_001105206.3(LAMA4):c.2813+7T>C
|
rs370599915
|
0.00001
|
|
NM_001105206.3(LAMA4):c.2979C>T (p.Leu993=)
|
rs1554332649
|
0.00001
|
|
NM_001105206.3(LAMA4):c.298-11T>C
|
rs1386590968
|
0.00001
|
|
NM_001105206.3(LAMA4):c.3003C>T (p.Gly1001=)
|
rs397516728
|
0.00001
|
|
NM_001105206.3(LAMA4):c.309G>A (p.Arg103=)
|
rs782786137
|
0.00001
|
|
NM_001105206.3(LAMA4):c.3110+10A>T
|
rs1554332565
|
0.00001
|
|
NM_001105206.3(LAMA4):c.3111-19C>T
|
rs782479950
|
0.00001
|
|
NM_001105206.3(LAMA4):c.3372T>C (p.Asp1124=)
|
rs782596488
|
0.00001
|
|
NM_001105206.3(LAMA4):c.3414+11T>C
|
rs1372941185
|
0.00001
|
|
NM_001105206.3(LAMA4):c.3414+13G>A
|
rs782775128
|
0.00001
|
|
NM_001105206.3(LAMA4):c.3415-9C>T
|
rs782551665
|
0.00001
|
|
NM_001105206.3(LAMA4):c.3558-14A>C
|
rs782132702
|
0.00001
|
|
NM_001105206.3(LAMA4):c.3684A>G (p.Pro1228=)
|
rs144541357
|
0.00001
|
|
NM_001105206.3(LAMA4):c.3930G>A (p.Gly1310=)
|
rs138810316
|
0.00001
|
|
NM_001105206.3(LAMA4):c.4287+7G>A
|
rs1554328535
|
0.00001
|
|
NM_001105206.3(LAMA4):c.4311T>C (p.Pro1437=)
|
rs782380185
|
0.00001
|
|
NM_001105206.3(LAMA4):c.4476-10C>A
|
rs899288475
|
0.00001
|
|
NM_001105206.3(LAMA4):c.4476-4C>A
|
rs727505042
|
0.00001
|
|
NM_001105206.3(LAMA4):c.4977T>C (p.Val1659=)
|
rs199593652
|
0.00001
|
|
NM_001105206.3(LAMA4):c.4981+13A>G
|
rs587629667
|
0.00001
|
|
NM_001105206.3(LAMA4):c.5004G>A (p.Leu1668=)
|
rs781868926
|
0.00001
|
|
NM_001105206.3(LAMA4):c.5046C>T (p.Ser1682=)
|
rs782783070
|
0.00001
|
|
NM_001105206.3(LAMA4):c.5058C>T (p.Val1686=)
|
rs1488824654
|
0.00001
|
|
NM_001105206.3(LAMA4):c.5113-15T>C
|
rs1554322953
|
0.00001
|
|
NM_001105206.3(LAMA4):c.5241G>A (p.Val1747=)
|
rs375447272
|
0.00001
|
|
NM_001105206.3(LAMA4):c.5298G>A (p.Arg1766=)
|
rs782446664
|
0.00001
|
|
NM_001105206.3(LAMA4):c.5460T>C (p.Cys1820=)
|
rs1486502558
|
0.00001
|
|
NM_001105206.3(LAMA4):c.633T>C (p.Asn211=)
|
rs782555068
|
0.00001
|
|
NM_001105206.3(LAMA4):c.719-4A>G
|
rs371351262
|
0.00001
|
|
NM_001105206.3(LAMA4):c.729C>T (p.Cys243=)
|
rs117427733
|
0.00001
|
|
NM_001105206.3(LAMA4):c.72C>T (p.Ala24=)
|
rs782814489
|
0.00001
|
|
NM_001105206.3(LAMA4):c.753A>C (p.Val251=)
|
rs782296410
|
0.00001
|
|
NM_001105206.3(LAMA4):c.837C>T (p.Asp279=)
|
rs782335744
|
0.00001
|
|
NM_001105206.3(LAMA4):c.939A>G (p.Glu313=)
|
rs781882376
|
0.00001
|
|
NM_001105206.3(LAMA4):c.967-12A>G
|
rs782006888
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.-10-12G>C
|
rs1220484886
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.-10-6C>T
|
rs1402537848
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.103C>T (p.Leu35=)
|
rs1183377302
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.111C>T (p.Ala37=)
|
rs769255937
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.117G>C (p.Leu39=)
|
rs1217573321
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.156C>T (p.Tyr52=)
|
rs754972138
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.186C>T (p.Gly62=)
|
rs756321814
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.18C>T (p.Ala6=)
|
rs556519658
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.282G>A (p.Ala94=)
|
rs1848966585
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.297G>T (p.Ala99=)
|
rs923004197
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.312C>A (p.Val104=)
|
rs770277810
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.318G>A (p.Pro106=)
|
rs1348631478
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.354C>T (p.Leu118=)
|
rs1426804435
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.363G>A (p.Ala121=)
|
rs1424698883
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.396C>T (p.Ala132=)
|
rs1590150527
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.435A>G (p.Pro145=)
|
rs1381073956
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.447G>A (p.Pro149=)
|
rs1848950632
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.453G>A (p.Pro151=)
|
rs1262607893
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.465G>A (p.Ala155=)
|
rs1361624164
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.492C>G (p.Val164=)
|
rs878853628
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.528T>C (p.Ala176=)
|
rs384713
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.564C>T (p.Ala188=)
|
rs1554937891
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.582C>T (p.Ala194=)
|
rs1368082798
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.585G>A (p.Pro195=)
|
rs1060503858
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.60C>T (p.Arg20=)
|
rs1401021547
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.630A>G (p.Gln210=)
|
rs1848928119
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.660G>A (p.Gly220=)
|
rs1554937788
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.6G>A (p.Glu2=)
|
rs1416264447
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.708G>A (p.Ser236=)
|
rs1404692297
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.729C>G (p.Thr243=)
|
rs1198470133
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.756G>C (p.Ala252=)
|
rs1269967508
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.768G>A (p.Leu256=)
|
rs745815931
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.777T>G (p.Pro259=)
|
rs1395099180
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.787+10G>A
|
rs777855717
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.795C>T (p.Phe265=)
|
rs1258265872
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.855C>T (p.Pro285=)
|
rs779172459
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.897C>A (p.Thr299=)
|
rs1405293895
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.917G>A (p.Ter306=)
|
rs1363802623
|
0.00001
|
|
NM_001130965.3(SUN1):c.1053+13A>G
|
rs1823649625
|
0.00001
|
|
NM_001130965.3(SUN1):c.1137T>C (p.His379=)
|
rs1275509881
|
0.00001
|
|
NM_001130965.3(SUN1):c.1194C>T (p.Asp398=)
|
rs1403321463
|
0.00001
|
|
NM_001130965.3(SUN1):c.1209C>T (p.Gly403=)
|
rs376921792
|
0.00001
|
|
NM_001130965.3(SUN1):c.1263+12C>T
|
rs777780305
|
0.00001
|
|
NM_001130965.3(SUN1):c.1512C>T (p.Ala504=)
|
rs748209663
|
0.00001
|
|
NM_001130965.3(SUN1):c.1525-4C>T
|
rs1831070967
|
0.00001
|
|
NM_001130965.3(SUN1):c.1755G>A (p.Ala585=)
|
rs749583423
|
0.00001
|
|
NM_001130965.3(SUN1):c.1779+10C>A
|
rs751444425
|
0.00001
|
|
NM_001130965.3(SUN1):c.1785A>T (p.Ala595=)
|
rs1554264398
|
0.00001
|
|
NM_001130965.3(SUN1):c.1827T>C (p.Asp609=)
|
rs1351990939
|
0.00001
|
|
NM_001130965.3(SUN1):c.1980+10C>T
|
rs750855204
|
0.00001
|
|
NM_001130965.3(SUN1):c.1980+13C>T
|
rs367667307
|
0.00001
|
|
NM_001130965.3(SUN1):c.1980+20C>T
|
rs755016066
|
0.00001
|
|
NM_001130965.3(SUN1):c.2115C>T (p.Asn705=)
|
rs1265067455
|
0.00001
|
|
NM_001130965.3(SUN1):c.2124C>T (p.Ser708=)
|
rs376370215
|
0.00001
|
|
NM_001130965.3(SUN1):c.2139C>T (p.Phe713=)
|
rs777094056
|
0.00001
|
|
NM_001130965.3(SUN1):c.225C>T (p.Ser75=)
|
rs777759377
|
0.00001
|
|
NM_001130965.3(SUN1):c.2307T>C (p.Pro769=)
|
rs201787522
|
0.00001
|
|
NM_001130965.3(SUN1):c.363T>C (p.Thr121=)
|
rs1266147950
|
0.00001
|
|
NM_001130965.3(SUN1):c.429G>A (p.Gln143=)
|
rs776271425
|
0.00001
|
|
NM_001130965.3(SUN1):c.435A>G (p.Thr145=)
|
rs372424923
|
0.00001
|
|
NM_001130965.3(SUN1):c.451+7C>T
|
rs764595368
|
0.00001
|
|
NM_001130965.3(SUN1):c.478+9T>C
|
rs1811934380
|
0.00001
|
|
NM_001130965.3(SUN1):c.479-15G>A
|
rs1191123208
|
0.00001
|
|
NM_001130965.3(SUN1):c.531C>T (p.Ala177=)
|
rs1264934996
|
0.00001
|
|
NM_001130965.3(SUN1):c.690C>T (p.Ile230=)
|
rs765886591
|
0.00001
|
|
NM_001130965.3(SUN1):c.849C>T (p.Thr283=)
|
rs534584477
|
0.00001
|
|
NM_001130965.3(SUN1):c.957C>T (p.Pro319=)
|
rs749410045
|
0.00001
|
|
NM_001134363.3(RBM20):c.1013T>C (p.Met338Thr)
|
rs876657970
|
0.00001
|
|
NM_001134363.3(RBM20):c.1040A>G (p.Tyr347Cys)
|
rs794729142
|
0.00001
|
|
NM_001134363.3(RBM20):c.1059G>A (p.Glu353=)
|
rs749130573
|
0.00001
|
|
NM_001134363.3(RBM20):c.105C>T (p.Pro35=)
|
rs1463145512
|
0.00001
|
|
NM_001134363.3(RBM20):c.1078A>G (p.Thr360Ala)
|
rs1432765424
|
0.00001
|
|
NM_001134363.3(RBM20):c.1092C>T (p.Phe364=)
|
rs1233226046
|
0.00001
|
|
NM_001134363.3(RBM20):c.1100G>A (p.Arg367Gln)
|
rs878854247
|
0.00001
|
|
NM_001134363.3(RBM20):c.1139G>A (p.Arg380Gln)
|
rs777080028
|
0.00001
|
|
NM_001134363.3(RBM20):c.1162T>C (p.Leu388=)
|
rs1047268912
|
0.00001
|
|
NM_001134363.3(RBM20):c.116G>A (p.Arg39Gln)
|
rs780367353
|
0.00001
|
|
NM_001134363.3(RBM20):c.1174C>T (p.Arg392Trp)
|
rs771764951
|
0.00001
|
|
NM_001134363.3(RBM20):c.1200C>T (p.Asn400=)
|
rs1291756505
|
0.00001
|
|
NM_001134363.3(RBM20):c.1210G>A (p.Gly404Ser)
|
rs530925237
|
0.00001
|
|
NM_001134363.3(RBM20):c.1218C>A (p.Ala406=)
|
rs1289041673
|
0.00001
|
|
NM_001134363.3(RBM20):c.1221C>A (p.Pro407=)
|
rs1243243290
|
0.00001
|
|
NM_001134363.3(RBM20):c.1259A>G (p.Lys420Arg)
|
rs727505308
|
0.00001
|
|
NM_001134363.3(RBM20):c.126G>A (p.Gln42=)
|
rs925187151
|
0.00001
|
|
NM_001134363.3(RBM20):c.1290T>C (p.His430=)
|
rs1298729197
|
0.00001
|
|
NM_001134363.3(RBM20):c.1309G>A (p.Ala437Thr)
|
rs939425427
|
0.00001
|
|
NM_001134363.3(RBM20):c.131C>A (p.Pro44Gln)
|
rs563500712
|
0.00001
|
|
NM_001134363.3(RBM20):c.1326C>G (p.Val442=)
|
rs147650685
|
0.00001
|
|
NM_001134363.3(RBM20):c.1338-4C>G
|
rs753677364
|
0.00001
|
|
NM_001134363.3(RBM20):c.1360G>T (p.Gly454Cys)
|
rs780583951
|
0.00001
|
|
NM_001134363.3(RBM20):c.1365G>A (p.Ser455=)
|
rs1414344349
|
0.00001
|
|
NM_001134363.3(RBM20):c.1380G>A (p.Leu460=)
|
rs757011562
|
0.00001
|
|
NM_001134363.3(RBM20):c.1396A>G (p.Ser466Gly)
|
rs1330659380
|
0.00001
|
|
NM_001134363.3(RBM20):c.1400C>G (p.Thr467Arg)
|
rs775062085
|
0.00001
|
|
NM_001134363.3(RBM20):c.1444C>G (p.Leu482Val)
|
rs752506719
|
0.00001
|
|
NM_001134363.3(RBM20):c.1494C>A (p.Ser498Arg)
|
rs774916799
|
0.00001
|
|
NM_001134363.3(RBM20):c.1521G>A (p.Gly507=)
|
rs1844401435
|
0.00001
|
|
NM_001134363.3(RBM20):c.1527+10G>A
|
rs1434850211
|
0.00001
|
|
NM_001134363.3(RBM20):c.1538G>A (p.Arg513Gln)
|
rs876657974
|
0.00001
|
|
NM_001134363.3(RBM20):c.1554T>A (p.Arg518=)
|
rs1237509064
|
0.00001
|
|
NM_001134363.3(RBM20):c.1557G>A (p.Val519=)
|
rs1049924561
|
0.00001
|
|
NM_001134363.3(RBM20):c.1593T>A (p.Thr531=)
|
rs955486548
|
0.00001
|
|
NM_001134363.3(RBM20):c.1656G>A (p.Lys552=)
|
rs1159672633
|
0.00001
|
|
NM_001134363.3(RBM20):c.1668+17T>C
|
rs1797362664
|
0.00001
|
|
NM_001134363.3(RBM20):c.1701A>G (p.Ala567=)
|
rs557873670
|
0.00001
|
|
NM_001134363.3(RBM20):c.1723C>G (p.Gln575Glu)
|
rs1030751538
|
0.00001
|
|
NM_001134363.3(RBM20):c.1741A>G (p.Ile581Val)
|
rs1369977043
|
0.00001
|
|
NM_001134363.3(RBM20):c.1761C>T (p.Leu587=)
|
rs727504820
|
0.00001
|
|
NM_001134363.3(RBM20):c.1765C>T (p.Arg589Trp)
|
rs919402785
|
0.00001
|
|
NM_001134363.3(RBM20):c.1784A>G (p.Lys595Arg)
|
rs542484442
|
0.00001
|
|
NM_001134363.3(RBM20):c.1801-5G>T
|
rs995878595
|
0.00001
|
|
NM_001134363.3(RBM20):c.1812G>A (p.Lys604=)
|
rs751318089
|
0.00001
|
|
NM_001134363.3(RBM20):c.1830C>A (p.Ile610=)
|
rs1043758571
|
0.00001
|
|
NM_001134363.3(RBM20):c.1868G>A (p.Arg623Gln)
|
rs1366402693
|
0.00001
|
|
NM_001134363.3(RBM20):c.1921C>T (p.Arg641Trp)
|
rs772991270
|
0.00001
|
|
NM_001134363.3(RBM20):c.1935G>A (p.Pro645=)
|
rs184428735
|
0.00001
|
|
NM_001134363.3(RBM20):c.1960T>C (p.Ser654Pro)
|
rs1275195637
|
0.00001
|
|
NM_001134363.3(RBM20):c.1962C>T (p.Ser654=)
|
rs1060504913
|
0.00001
|
|
NM_001134363.3(RBM20):c.1973C>G (p.Ser658Cys)
|
rs397516598
|
0.00001
|
|
NM_001134363.3(RBM20):c.1988G>A (p.Gly663Asp)
|
rs864622685
|
0.00001
|
|
NM_001134363.3(RBM20):c.2011A>G (p.Asn671Asp)
|
rs1204905333
|
0.00001
|
|
NM_001134363.3(RBM20):c.2016C>T (p.Gly672=)
|
rs547089283
|
0.00001
|
|
NM_001134363.3(RBM20):c.2021A>G (p.Asp674Gly)
|
rs1475557145
|
0.00001
|
|
NM_001134363.3(RBM20):c.2031G>A (p.Glu677=)
|
rs1177135320
|
0.00001
|
|
NM_001134363.3(RBM20):c.2060A>G (p.Glu687Gly)
|
rs1051836531
|
0.00001
|
|
NM_001134363.3(RBM20):c.2063G>A (p.Arg688Gln)
|
rs776778214
|
0.00001
|
|
NM_001134363.3(RBM20):c.2069C>T (p.Pro690Leu)
|
rs550942448
|
0.00001
|
|
NM_001134363.3(RBM20):c.2070G>A (p.Pro690=)
|
rs890520365
|
0.00001
|
|
NM_001134363.3(RBM20):c.2089G>A (p.Gly697Arg)
|
rs376463335
|
0.00001
|
|
NM_001134363.3(RBM20):c.2131C>T (p.Arg711Cys)
|
rs750763255
|
0.00001
|
|
NM_001134363.3(RBM20):c.2146C>T (p.Arg716Trp)
|
rs1405564573
|
0.00001
|
|
NM_001134363.3(RBM20):c.2153T>C (p.Leu718Pro)
|
rs567017513
|
0.00001
|
|
NM_001134363.3(RBM20):c.2172C>T (p.Asp724=)
|
rs368933889
|
0.00001
|
|
NM_001134363.3(RBM20):c.2174A>C (p.Glu725Ala)
|
rs967504449
|
0.00001
|
|
NM_001134363.3(RBM20):c.219A>G (p.Pro73=)
|
rs1355159778
|
0.00001
|
|
NM_001134363.3(RBM20):c.2237C>T (p.Pro746Leu)
|
rs1250264103
|
0.00001
|
|
NM_001134363.3(RBM20):c.2271C>T (p.Asp757=)
|
rs1168255004
|
0.00001
|
|
NM_001134363.3(RBM20):c.2272G>A (p.Gly758Ser)
|
rs1371567866
|
0.00001
|
|
NM_001134363.3(RBM20):c.2276A>G (p.Tyr759Cys)
|
rs1463526980
|
0.00001
|
|
NM_001134363.3(RBM20):c.2281C>T (p.Arg761Trp)
|
rs781256531
|
0.00001
|
|
NM_001134363.3(RBM20):c.2304G>A (p.Ser768=)
|
rs80336115
|
0.00001
|
|
NM_001134363.3(RBM20):c.2337C>T (p.Pro779=)
|
rs1179283749
|
0.00001
|
|
NM_001134363.3(RBM20):c.237G>A (p.Pro79=)
|
rs751872145
|
0.00001
|
|
NM_001134363.3(RBM20):c.2388C>G (p.Pro796=)
|
rs1057522796
|
0.00001
|
|
NM_001134363.3(RBM20):c.2410G>A (p.Glu804Lys)
|
rs957248353
|
0.00001
|
|
NM_001134363.3(RBM20):c.2424G>T (p.Gly808=)
|
rs1221011995
|
0.00001
|
|
NM_001134363.3(RBM20):c.2436T>A (p.Thr812=)
|
rs748814058
|
0.00001
|
|
NM_001134363.3(RBM20):c.2464C>A (p.Gln822Lys)
|
rs377259044
|
0.00001
|
|
NM_001134363.3(RBM20):c.2514T>C (p.Ala838=)
|
rs794727966
|
0.00001
|
|
NM_001134363.3(RBM20):c.2523A>G (p.Arg841=)
|
rs1176057123
|
0.00001
|
|
NM_001134363.3(RBM20):c.2616A>G (p.Glu872=)
|
rs1356159353
|
0.00001
|
|
NM_001134363.3(RBM20):c.261C>T (p.Ala87=)
|
rs886038415
|
0.00001
|
|
NM_001134363.3(RBM20):c.2633C>T (p.Pro878Leu)
|
rs368291152
|
0.00001
|
|
NM_001134363.3(RBM20):c.2656-15T>C
|
rs1222997158
|
0.00001
|
|
NM_001134363.3(RBM20):c.27G>C (p.Gln9His)
|
rs1157177960
|
0.00001
|
|
NM_001134363.3(RBM20):c.2835A>G (p.Thr945=)
|
rs1043106270
|
0.00001
|
|
NM_001134363.3(RBM20):c.2847G>C (p.Val949=)
|
rs1379129358
|
0.00001
|
|
NM_001134363.3(RBM20):c.2904C>T (p.Ala968=)
|
rs587781138
|
0.00001
|
|
NM_001134363.3(RBM20):c.294C>G (p.Leu98=)
|
rs1590673849
|
0.00001
|
|
NM_001134363.3(RBM20):c.3022C>T (p.Arg1008Trp)
|
rs397516610
|
0.00001
|
|
NM_001134363.3(RBM20):c.3067G>T (p.Asp1023Tyr)
|
rs730880186
|
0.00001
|
|
NM_001134363.3(RBM20):c.3076G>A (p.Glu1026Lys)
|
rs866975469
|
0.00001
|
|
NM_001134363.3(RBM20):c.3096G>A (p.Val1032=)
|
rs768655519
|
0.00001
|
|
NM_001134363.3(RBM20):c.3099G>A (p.Glu1033=)
|
rs1463977943
|
0.00001
|
|
NM_001134363.3(RBM20):c.3109G>A (p.Val1037Ile)
|
rs1406011277
|
0.00001
|
|
NM_001134363.3(RBM20):c.3129C>A (p.Val1043=)
|
rs766139569
|
0.00001
|
|
NM_001134363.3(RBM20):c.313C>T (p.Leu105=)
|
rs397516611
|
0.00001
|
|
NM_001134363.3(RBM20):c.3160G>C (p.Glu1054Gln)
|
rs780301164
|
0.00001
|
|
NM_001134363.3(RBM20):c.321G>C (p.Gln107His)
|
rs1413181007
|
0.00001
|
|
NM_001134363.3(RBM20):c.3301G>A (p.Glu1101Lys)
|
rs959605686
|
0.00001
|
|
NM_001134363.3(RBM20):c.3316+7A>C
|
rs1357286246
|
0.00001
|
|
NM_001134363.3(RBM20):c.3316+8T>C
|
rs1223878303
|
0.00001
|
|
NM_001134363.3(RBM20):c.3317-10T>C
|
rs772243422
|
0.00001
|
|
NM_001134363.3(RBM20):c.3330C>T (p.Tyr1110=)
|
rs991930637
|
0.00001
|
|
NM_001134363.3(RBM20):c.3336A>G (p.Glu1112=)
|
rs1264759117
|
0.00001
|
|
NM_001134363.3(RBM20):c.3366G>A (p.Glu1122=)
|
rs397516613
|
0.00001
|
|
NM_001134363.3(RBM20):c.3372T>C (p.Thr1124=)
|
rs397516614
|
0.00001
|
|
NM_001134363.3(RBM20):c.3402G>A (p.Leu1134=)
|
rs1437581340
|
0.00001
|
|
NM_001134363.3(RBM20):c.3489C>T (p.Cys1163=)
|
rs1395153921
|
0.00001
|
|
NM_001134363.3(RBM20):c.3493C>T (p.Leu1165=)
|
rs1309952731
|
0.00001
|
|
NM_001134363.3(RBM20):c.3495G>A (p.Leu1165=)
|
rs1244898348
|
0.00001
|
|
NM_001134363.3(RBM20):c.349G>A (p.Ala117Thr)
|
rs373480063
|
0.00001
|
|
NM_001134363.3(RBM20):c.3516C>T (p.Ser1172=)
|
rs781463840
|
0.00001
|
|
NM_001134363.3(RBM20):c.3534G>A (p.Met1178Ile)
|
rs932864733
|
0.00001
|
|
NM_001134363.3(RBM20):c.3555C>A (p.Val1185=)
|
rs545855573
|
0.00001
|
|
NM_001134363.3(RBM20):c.3574-15C>T
|
rs898223638
|
0.00001
|
|
NM_001134363.3(RBM20):c.3574-19T>C
|
rs1057522723
|
0.00001
|
|
NM_001134363.3(RBM20):c.3601G>A (p.Gly1201Ser)
|
rs751621383
|
0.00001
|
|
NM_001134363.3(RBM20):c.3602G>A (p.Gly1201Asp)
|
rs1159249168
|
0.00001
|
|
NM_001134363.3(RBM20):c.3609G>A (p.Lys1203=)
|
rs892459274
|
0.00001
|
|
NM_001134363.3(RBM20):c.3623C>T (p.Ala1208Val)
|
rs397516618
|
0.00001
|
|
NM_001134363.3(RBM20):c.3636G>A (p.Arg1212=)
|
rs997329188
|
0.00001
|
|
NM_001134363.3(RBM20):c.420G>A (p.Pro140=)
|
rs776692347
|
0.00001
|
|
NM_001134363.3(RBM20):c.467C>T (p.Ala156Val)
|
rs921903094
|
0.00001
|
|
NM_001134363.3(RBM20):c.52C>A (p.Gln18Lys)
|
rs960474640
|
0.00001
|
|
NM_001134363.3(RBM20):c.555C>T (p.Asn185=)
|
rs377139558
|
0.00001
|
|
NM_001134363.3(RBM20):c.600T>G (p.Thr200=)
|
rs876657571
|
0.00001
|
|
NM_001134363.3(RBM20):c.707C>A (p.Ser236Tyr)
|
rs548382173
|
0.00001
|
|
NM_001134363.3(RBM20):c.717A>T (p.Thr239=)
|
rs886046700
|
0.00001
|
|
NM_001134363.3(RBM20):c.721G>C (p.Gly241Arg)
|
rs932090112
|
0.00001
|
|
NM_001134363.3(RBM20):c.735T>C (p.Asp245=)
|
rs548804547
|
0.00001
|
|
NM_001134363.3(RBM20):c.762G>A (p.Ser254=)
|
rs1175327119
|
0.00001
|
|
NM_001134363.3(RBM20):c.822T>C (p.Gly274=)
|
rs1209966955
|
0.00001
|
|
NM_001134363.3(RBM20):c.838A>G (p.Lys280Glu)
|
rs1414387984
|
0.00001
|
|
NM_001134363.3(RBM20):c.864A>G (p.Gln288=)
|
rs1354313838
|
0.00001
|
|
NM_001134363.3(RBM20):c.871C>T (p.His291Tyr)
|
rs1310257089
|
0.00001
|
|
NM_001134363.3(RBM20):c.883G>A (p.Gly295Arg)
|
rs368084708
|
0.00001
|
|
NM_001134363.3(RBM20):c.999C>G (p.Leu333=)
|
rs1284279454
|
0.00001
|
|
NM_001159699.2(FHL1):c.159C>T (p.Ala53=)
|
rs1458693544
|
0.00001
|
|
NM_001159699.2(FHL1):c.165C>T (p.Thr55=)
|
rs770499208
|
0.00001
|
|
NM_001159699.2(FHL1):c.168T>C (p.Cys56=)
|
rs1192668098
|
0.00001
|
|
NM_001159699.2(FHL1):c.189C>T (p.Ile63=)
|
rs1424503926
|
0.00001
|
|
NM_001159699.2(FHL1):c.195G>A (p.Ala65=)
|
rs1394298803
|
0.00001
|
|
NM_001159699.2(FHL1):c.213C>T (p.His71=)
|
rs917304507
|
0.00001
|
|
NM_001159699.2(FHL1):c.379+8C>T
|
rs1278172802
|
0.00001
|
|
NM_001159699.2(FHL1):c.380-9C>A
|
rs766762163
|
0.00001
|
|
NM_001159699.2(FHL1):c.501G>A (p.Val167=)
|
rs765313795
|
0.00001
|
|
NM_001159699.2(FHL1):c.519G>A (p.Lys173=)
|
rs750331409
|
0.00001
|
|
NM_001159699.2(FHL1):c.531T>C (p.His177=)
|
rs1268549852
|
0.00001
|
|
NM_001159699.2(FHL1):c.537G>C (p.Val179=)
|
rs753535765
|
0.00001
|
|
NM_001159699.2(FHL1):c.550-10C>T
|
rs376922604
|
0.00001
|
|
NM_001159699.2(FHL1):c.550-4C>T
|
rs1188178386
|
0.00001
|
|
NM_001159699.2(FHL1):c.60G>A (p.Lys20=)
|
rs1297632047
|
0.00001
|
|
NM_001159699.2(FHL1):c.708G>A (p.Lys236=)
|
rs1253823085
|
0.00001
|
|
NM_001159699.2(FHL1):c.711T>C (p.Cys237=)
|
rs757798011
|
0.00001
|
|
NM_001159699.2(FHL1):c.729C>G (p.Pro243=)
|
rs1060504733
|
0.00001
|
|
NM_001159699.2(FHL1):c.736+18T>C
|
rs774416768
|
0.00001
|
|
NM_001159699.2(FHL1):c.737-14T>C
|
rs769912263
|
0.00001
|
|
NM_001159699.2(FHL1):c.789C>T (p.Asp263=)
|
rs1057523997
|
0.00001
|
|
NM_001159699.2(FHL1):c.861G>T (p.Val287=)
|
rs886043219
|
0.00001
|
|
NM_001159699.2(FHL1):c.870C>T (p.Pro290=)
|
rs775356347
|
0.00001
|
|
NM_001159702.3(FHL1):c.714C>T (p.Ser238=)
|
rs780429969
|
0.00001
|
|
NM_001161403.3(LIMS2):c.24C>T (p.Asp8=)
|
rs755783718
|
0.00001
|
|
NM_001161403.3(LIMS2):c.325C>T (p.Leu109=)
|
rs200845999
|
0.00001
|
|
NM_001161403.3(LIMS2):c.359+14G>A
|
rs773360906
|
0.00001
|
|
NM_001161403.3(LIMS2):c.471C>T (p.Asp157=)
|
rs761802077
|
0.00001
|
|
NM_001161403.3(LIMS2):c.661-18C>T
|
rs376092968
|
0.00001
|
|
NM_001161403.3(LIMS2):c.753+9G>A
|
rs200874584
|
0.00001
|
|
NM_001161403.3(LIMS2):c.754-13G>A
|
rs752006518
|
0.00001
|
|
NM_001161403.3(LIMS2):c.75C>T (p.Ala25=)
|
rs199821222
|
0.00001
|
|
NM_001161403.3(LIMS2):c.802+9_802+10del
|
rs749417172
|
0.00001
|
|
NM_001232.4(CASQ2):c.1015-10C>T
|
rs760797081
|
0.00001
|
|
NM_001232.4(CASQ2):c.1050C>T (p.Asp350=)
|
rs758060229
|
0.00001
|
|
NM_001232.4(CASQ2):c.111T>C (p.Leu37=)
|
rs1317500264
|
0.00001
|
|
NM_001232.4(CASQ2):c.225C>T (p.Ile75=)
|
rs1373884863
|
0.00001
|
|
NM_001232.4(CASQ2):c.319+18G>A
|
rs757103068
|
0.00001
|
|
NM_001232.4(CASQ2):c.319+20T>C
|
rs751551798
|
0.00001
|
|
NM_001232.4(CASQ2):c.333A>G (p.Glu111=)
|
rs727502910
|
0.00001
|
|
NM_001232.4(CASQ2):c.492C>T (p.Tyr164=)
|
rs886038422
|
0.00001
|
|
NM_001232.4(CASQ2):c.495C>T (p.Ile165=)
|
rs1447782106
|
0.00001
|
|
NM_001232.4(CASQ2):c.501C>G (p.Leu167=)
|
rs146051391
|
0.00001
|
|
NM_001232.4(CASQ2):c.533-12T>G
|
rs774246167
|
0.00001
|
|
NM_001232.4(CASQ2):c.533-15T>C
|
rs370268584
|
0.00001
|
|
NM_001232.4(CASQ2):c.533-20A>G
|
rs760173068
|
0.00001
|
|
NM_001232.4(CASQ2):c.606+7_606+9del
|
rs752653901
|
0.00001
|
|
NM_001232.4(CASQ2):c.645C>T (p.Asp215=)
|
rs1320292050
|
0.00001
|
|
NM_001232.4(CASQ2):c.702A>G (p.Glu234=)
|
rs756693726
|
0.00001
|
|
NM_001232.4(CASQ2):c.711G>T (p.Leu237=)
|
rs777363402
|
0.00001
|
|
NM_001232.4(CASQ2):c.737+19G>C
|
rs761915819
|
0.00001
|
|
NM_001232.4(CASQ2):c.738-19T>C
|
rs759948112
|
0.00001
|
|
NM_001232.4(CASQ2):c.759C>T (p.Arg253=)
|
rs1210277732
|
0.00001
|
|
NM_001232.4(CASQ2):c.784-11T>G
|
rs761150514
|
0.00001
|
|
NM_001232.4(CASQ2):c.784-19T>C
|
rs765442639
|
0.00001
|
|
NM_001232.4(CASQ2):c.846C>T (p.Tyr282=)
|
rs764692110
|
0.00001
|
|
NM_001232.4(CASQ2):c.903G>A (p.Leu301=)
|
rs1350273999
|
0.00001
|
|
NM_001232.4(CASQ2):c.912G>A (p.Leu304=)
|
rs146074006
|
0.00001
|
|
NM_001232.4(CASQ2):c.957G>A (p.Glu319=)
|
rs758803168
|
0.00001
|
|
NM_001256850.1(TTN):c.18197-4A>G
|
rs1025136671
|
0.00001
|
|
NM_001267550.2(TTN):c.100020A>G (p.Gln33340=)
|
rs375614764
|
0.00001
|
|
NM_001267550.2(TTN):c.100167A>G (p.Pro33389=)
|
rs778478048
|
0.00001
|
|
NM_001267550.2(TTN):c.100197A>G (p.Pro33399=)
|
rs1434554684
|
0.00001
|
|
NM_001267550.2(TTN):c.100359A>C (p.Ser33453=)
|
rs1483003625
|
0.00001
|
|
NM_001267550.2(TTN):c.10041C>T (p.Ile3347=)
|
rs143307305
|
0.00001
|
|
NM_001267550.2(TTN):c.100467T>C (p.Ser33489=)
|
rs794727540
|
0.00001
|
|
NM_001267550.2(TTN):c.100500G>A (p.Glu33500=)
|
rs1377937205
|
0.00001
|
|
NM_001267550.2(TTN):c.100578C>T (p.Ile33526=)
|
rs764709619
|
0.00001
|
|
NM_001267550.2(TTN):c.100599C>A (p.Gly33533=)
|
rs373667354
|
0.00001
|
|
NM_001267550.2(TTN):c.100629T>C (p.Tyr33543=)
|
rs772935423
|
0.00001
|
|
NM_001267550.2(TTN):c.100632G>A (p.Arg33544=)
|
rs764687906
|
0.00001
|
|
NM_001267550.2(TTN):c.100653C>A (p.Gly33551=)
|
rs727505326
|
0.00001
|
|
NM_001267550.2(TTN):c.100662G>A (p.Gln33554=)
|
rs1036339690
|
0.00001
|
|
NM_001267550.2(TTN):c.100773T>C (p.Ala33591=)
|
rs760622914
|
0.00001
|
|
NM_001267550.2(TTN):c.100818T>C (p.His33606=)
|
rs1402147578
|
0.00001
|
|
NM_001267550.2(TTN):c.100875T>C (p.Pro33625=)
|
rs780265134
|
0.00001
|
|
NM_001267550.2(TTN):c.100935T>C (p.Ile33645=)
|
rs763249842
|
0.00001
|
|
NM_001267550.2(TTN):c.100992T>C (p.Ala33664=)
|
rs755742637
|
0.00001
|
|
NM_001267550.2(TTN):c.101050C>T (p.Leu33684=)
|
rs775824162
|
0.00001
|
|
NM_001267550.2(TTN):c.101121C>T (p.Asn33707=)
|
rs931200740
|
0.00001
|
|
NM_001267550.2(TTN):c.101136G>A (p.Glu33712=)
|
rs1060503937
|
0.00001
|
|
NM_001267550.2(TTN):c.101172C>T (p.Tyr33724=)
|
rs1441942873
|
0.00001
|
|
NM_001267550.2(TTN):c.101178T>C (p.Val33726=)
|
rs750286559
|
0.00001
|
|
NM_001267550.2(TTN):c.1011A>G (p.Thr337=)
|
rs758427242
|
0.00001
|
|
NM_001267550.2(TTN):c.101214T>G (p.Arg33738=)
|
rs876657617
|
0.00001
|
|
NM_001267550.2(TTN):c.101244C>T (p.Thr33748=)
|
rs765149703
|
0.00001
|
|
NM_001267550.2(TTN):c.101382A>G (p.Glu33794=)
|
rs375153601
|
0.00001
|
|
NM_001267550.2(TTN):c.101391T>C (p.Asp33797=)
|
rs374228740
|
0.00001
|
|
NM_001267550.2(TTN):c.101508T>C (p.Cys33836=)
|
rs758908171
|
0.00001
|
|
NM_001267550.2(TTN):c.10164G>A (p.Arg3388=)
|
rs542799064
|
0.00001
|
|
NM_001267550.2(TTN):c.10182A>G (p.Gln3394=)
|
rs797046059
|
0.00001
|
|
NM_001267550.2(TTN):c.101916C>T (p.Phe33972=)
|
rs1417727276
|
0.00001
|
|
NM_001267550.2(TTN):c.101970T>C (p.Asp33990=)
|
rs375585777
|
0.00001
|
|
NM_001267550.2(TTN):c.101979C>T (p.Ser33993=)
|
rs1429749651
|
0.00001
|
|
NM_001267550.2(TTN):c.102025T>C (p.Leu34009=)
|
rs794727543
|
0.00001
|
|
NM_001267550.2(TTN):c.102060C>T (p.Asn34020=)
|
rs771707205
|
0.00001
|
|
NM_001267550.2(TTN):c.102078T>C (p.Asn34026=)
|
rs774398198
|
0.00001
|
|
NM_001267550.2(TTN):c.102096T>C (p.Tyr34032=)
|
rs771155641
|
0.00001
|
|
NM_001267550.2(TTN):c.102099T>C (p.Thr34033=)
|
rs896791206
|
0.00001
|
|
NM_001267550.2(TTN):c.102195G>A (p.Ser34065=)
|
rs757037792
|
0.00001
|
|
NM_001267550.2(TTN):c.102213A>G (p.Pro34071=)
|
rs879066988
|
0.00001
|
|
NM_001267550.2(TTN):c.102217T>C (p.Leu34073=)
|
rs1006736251
|
0.00001
|
|
NM_001267550.2(TTN):c.102399T>C (p.Ile34133=)
|
rs1271132251
|
0.00001
|
|
NM_001267550.2(TTN):c.102432T>C (p.His34144=)
|
rs769502434
|
0.00001
|
|
NM_001267550.2(TTN):c.102558C>T (p.Thr34186=)
|
rs1457807365
|
0.00001
|
|
NM_001267550.2(TTN):c.102688A>C (p.Arg34230=)
|
rs745836095
|
0.00001
|
|
NM_001267550.2(TTN):c.102795T>C (p.Tyr34265=)
|
rs770969582
|
0.00001
|
|
NM_001267550.2(TTN):c.102882A>G (p.Ser34294=)
|
rs373384005
|
0.00001
|
|
NM_001267550.2(TTN):c.102963C>T (p.Asn34321=)
|
rs528502993
|
0.00001
|
|
NM_001267550.2(TTN):c.103089C>T (p.Pro34363=)
|
rs1393600349
|
0.00001
|
|
NM_001267550.2(TTN):c.103182A>G (p.Leu34394=)
|
rs1434132972
|
0.00001
|
|
NM_001267550.2(TTN):c.103207C>T (p.Leu34403=)
|
rs773892755
|
0.00001
|
|
NM_001267550.2(TTN):c.103209G>A (p.Leu34403=)
|
rs1430082978
|
0.00001
|
|
NM_001267550.2(TTN):c.103236C>T (p.Ile34412=)
|
rs745465328
|
0.00001
|
|
NM_001267550.2(TTN):c.103444A>C (p.Arg34482=)
|
rs1380119708
|
0.00001
|
|
NM_001267550.2(TTN):c.103578G>A (p.Glu34526=)
|
rs1478505603
|
0.00001
|
|
NM_001267550.2(TTN):c.103632G>A (p.Glu34544=)
|
rs1285886003
|
0.00001
|
|
NM_001267550.2(TTN):c.103713T>C (p.Tyr34571=)
|
rs1057523313
|
0.00001
|
|
NM_001267550.2(TTN):c.103830C>T (p.Arg34610=)
|
rs1321633640
|
0.00001
|
|
NM_001267550.2(TTN):c.103836A>G (p.Thr34612=)
|
rs533393186
|
0.00001
|
|
NM_001267550.2(TTN):c.103881T>C (p.Asp34627=)
|
rs770005413
|
0.00001
|
|
NM_001267550.2(TTN):c.104010C>T (p.Tyr34670=)
|
rs751039219
|
0.00001
|
|
NM_001267550.2(TTN):c.104082A>G (p.Ser34694=)
|
rs1413571023
|
0.00001
|
|
NM_001267550.2(TTN):c.104126G>A (p.Arg34709His)
|
rs574420969
|
0.00001
|
|
NM_001267550.2(TTN):c.104166A>C (p.Thr34722=)
|
rs1404311137
|
0.00001
|
|
NM_001267550.2(TTN):c.104229T>C (p.Tyr34743=)
|
rs762295035
|
0.00001
|
|
NM_001267550.2(TTN):c.104241G>A (p.Arg34747=)
|
rs1451163518
|
0.00001
|
|
NM_001267550.2(TTN):c.104250T>C (p.His34750=)
|
rs745463889
|
0.00001
|
|
NM_001267550.2(TTN):c.104283G>T (p.Arg34761=)
|
rs1689489588
|
0.00001
|
|
NM_001267550.2(TTN):c.104328A>C (p.Pro34776=)
|
rs1575245592
|
0.00001
|
|
NM_001267550.2(TTN):c.104334G>A (p.Thr34778=)
|
rs550108694
|
0.00001
|
|
NM_001267550.2(TTN):c.104349C>T (p.Leu34783=)
|
rs748899419
|
0.00001
|
|
NM_001267550.2(TTN):c.10434C>T (p.Asn3478=)
|
rs749590376
|
0.00001
|
|
NM_001267550.2(TTN):c.104457C>T (p.Tyr34819=)
|
rs548677252
|
0.00001
|
|
NM_001267550.2(TTN):c.104472T>C (p.His34824=)
|
rs761372671
|
0.00001
|
|
NM_001267550.2(TTN):c.104541T>C (p.Tyr34847=)
|
rs750079478
|
0.00001
|
|
NM_001267550.2(TTN):c.10457C>T (p.Ala3486Val)
|
rs374093805
|
0.00001
|
|
NM_001267550.2(TTN):c.104604C>T (p.Tyr34868=)
|
rs765047045
|
0.00001
|
|
NM_001267550.2(TTN):c.104631T>C (p.Pro34877=)
|
rs763646831
|
0.00001
|
|
NM_001267550.2(TTN):c.104721C>A (p.Ile34907=)
|
rs763807626
|
0.00001
|
|
NM_001267550.2(TTN):c.10482A>G (p.Pro3494=)
|
rs756011775
|
0.00001
|
|
NM_001267550.2(TTN):c.104850G>A (p.Ser34950=)
|
rs556443213
|
0.00001
|
|
NM_001267550.2(TTN):c.104913C>T (p.Ala34971=)
|
rs780680405
|
0.00001
|
|
NM_001267550.2(TTN):c.10491A>G (p.Gln3497=)
|
rs550083531
|
0.00001
|
|
NM_001267550.2(TTN):c.104961G>A (p.Lys34987=)
|
rs761971017
|
0.00001
|
|
NM_001267550.2(TTN):c.104967T>C (p.His34989=)
|
rs754129150
|
0.00001
|
|
NM_001267550.2(TTN):c.104979G>A (p.Thr34993=)
|
rs775644738
|
0.00001
|
|
NM_001267550.2(TTN):c.105072T>C (p.Ser35024=)
|
rs1450125971
|
0.00001
|
|
NM_001267550.2(TTN):c.105156T>C (p.Val35052=)
|
rs766918865
|
0.00001
|
|
NM_001267550.2(TTN):c.105186T>C (p.Tyr35062=)
|
rs759152072
|
0.00001
|
|
NM_001267550.2(TTN):c.105339A>G (p.Ser35113=)
|
rs886038721
|
0.00001
|
|
NM_001267550.2(TTN):c.105360C>T (p.Thr35120=)
|
rs904049980
|
0.00001
|
|
NM_001267550.2(TTN):c.105375G>A (p.Thr35125=)
|
rs780294413
|
0.00001
|
|
NM_001267550.2(TTN):c.105429C>T (p.Gly35143=)
|
rs368591364
|
0.00001
|
|
NM_001267550.2(TTN):c.105465G>A (p.Glu35155=)
|
rs1235753439
|
0.00001
|
|
NM_001267550.2(TTN):c.105492T>C (p.Arg35164=)
|
rs775290030
|
0.00001
|
|
NM_001267550.2(TTN):c.105570A>G (p.Ser35190=)
|
rs377340289
|
0.00001
|
|
NM_001267550.2(TTN):c.105732A>G (p.Pro35244=)
|
rs1203061089
|
0.00001
|
|
NM_001267550.2(TTN):c.105831T>G (p.Val35277=)
|
rs751375570
|
0.00001
|
|
NM_001267550.2(TTN):c.105849T>C (p.Ser35283=)
|
rs1344897936
|
0.00001
|
|
NM_001267550.2(TTN):c.105852C>G (p.Ala35284=)
|
rs776786546
|
0.00001
|
|
NM_001267550.2(TTN):c.105945A>G (p.Lys35315=)
|
rs750183638
|
0.00001
|
|
NM_001267550.2(TTN):c.105999G>A (p.Gln35333=)
|
rs764231632
|
0.00001
|
|
NM_001267550.2(TTN):c.106029G>A (p.Glu35343=)
|
rs985272969
|
0.00001
|
|
NM_001267550.2(TTN):c.106047C>A (p.Leu35349=)
|
rs768200270
|
0.00001
|
|
NM_001267550.2(TTN):c.106101G>A (p.Thr35367=)
|
rs754154871
|
0.00001
|
|
NM_001267550.2(TTN):c.106143T>C (p.Ser35381=)
|
rs961119478
|
0.00001
|
|
NM_001267550.2(TTN):c.106200T>C (p.Thr35400=)
|
rs778143338
|
0.00001
|
|
NM_001267550.2(TTN):c.106212A>G (p.Val35404=)
|
rs1312103333
|
0.00001
|
|
NM_001267550.2(TTN):c.106239T>C (p.Pro35413=)
|
rs1688566947
|
0.00001
|
|
NM_001267550.2(TTN):c.106482A>G (p.Val35494=)
|
rs766024055
|
0.00001
|
|
NM_001267550.2(TTN):c.106532-4T>C
|
rs761764101
|
0.00001
|
|
NM_001267550.2(TTN):c.106902T>G (p.Thr35634=)
|
rs1236739074
|
0.00001
|
|
NM_001267550.2(TTN):c.10698A>G (p.Gln3566=)
|
rs1199564481
|
0.00001
|
|
NM_001267550.2(TTN):c.107058C>T (p.Val35686=)
|
rs767818722
|
0.00001
|
|
NM_001267550.2(TTN):c.107097A>C (p.Ser35699=)
|
rs771821464
|
0.00001
|
|
NM_001267550.2(TTN):c.107118A>G (p.Ser35706=)
|
rs1477953539
|
0.00001
|
|
NM_001267550.2(TTN):c.107268A>G (p.Val35756=)
|
rs1687465738
|
0.00001
|
|
NM_001267550.2(TTN):c.107377+16C>T
|
rs777307827
|
0.00001
|
|
NM_001267550.2(TTN):c.107410T>C (p.Leu35804=)
|
rs1445566495
|
0.00001
|
|
NM_001267550.2(TTN):c.107451G>A (p.Ser35817=)
|
rs762942579
|
0.00001
|
|
NM_001267550.2(TTN):c.1074G>A (p.Glu358=)
|
rs747118838
|
0.00001
|
|
NM_001267550.2(TTN):c.107681-12T>C
|
rs1448556655
|
0.00001
|
|
NM_001267550.2(TTN):c.107724T>C (p.Ile35908=)
|
rs748517132
|
0.00001
|
|
NM_001267550.2(TTN):c.10782T>C (p.Ser3594=)
|
rs768090794
|
0.00001
|
|
NM_001267550.2(TTN):c.107832G>A (p.Arg35944=)
|
rs759154562
|
0.00001
|
|
NM_001267550.2(TTN):c.107871C>T (p.Ile35957=)
|
rs777697301
|
0.00001
|
|
NM_001267550.2(TTN):c.107880C>T (p.Asp35960=)
|
rs747964050
|
0.00001
|
|
NM_001267550.2(TTN):c.107952G>A (p.Val35984=)
|
rs1485536370
|
0.00001
|
|
NM_001267550.2(TTN):c.10827A>G (p.Glu3609=)
|
rs776259519
|
0.00001
|
|
NM_001267550.2(TTN):c.10869A>G (p.Thr3623=)
|
rs778116553
|
0.00001
|
|
NM_001267550.2(TTN):c.1089G>A (p.Thr363=)
|
rs528675109
|
0.00001
|
|
NM_001267550.2(TTN):c.10911C>A (p.Ser3637=)
|
rs751994960
|
0.00001
|
|
NM_001267550.2(TTN):c.10959A>G (p.Lys3653=)
|
rs1029197818
|
0.00001
|
|
NM_001267550.2(TTN):c.10968G>A (p.Thr3656=)
|
rs771709418
|
0.00001
|
|
NM_001267550.2(TTN):c.10989C>T (p.Phe3663=)
|
rs1254851346
|
0.00001
|
|
NM_001267550.2(TTN):c.11085C>T (p.His3695=)
|
rs774236128
|
0.00001
|
|
NM_001267550.2(TTN):c.11103G>A (p.Glu3701=)
|
rs762913656
|
0.00001
|
|
NM_001267550.2(TTN):c.1111A>C (p.Arg371=)
|
rs765810853
|
0.00001
|
|
NM_001267550.2(TTN):c.11229G>A (p.Thr3743=)
|
rs374617032
|
0.00001
|
|
NM_001267550.2(TTN):c.11254+14T>C
|
rs754595864
|
0.00001
|
|
NM_001267550.2(TTN):c.11311+7T>C
|
rs2086016384
|
0.00001
|
|
NM_001267550.2(TTN):c.11337C>T (p.Ala3779=)
|
rs375603989
|
0.00001
|
|
NM_001267550.2(TTN):c.11502G>A (p.Gly3834=)
|
rs777420658
|
0.00001
|
|
NM_001267550.2(TTN):c.11520T>C (p.Ser3840=)
|
rs781238390
|
0.00001
|
|
NM_001267550.2(TTN):c.11556G>A (p.Gln3852=)
|
rs750599414
|
0.00001
|
|
NM_001267550.2(TTN):c.11650T>C (p.Leu3884=)
|
rs933410465
|
0.00001
|
|
NM_001267550.2(TTN):c.1173T>C (p.Ala391=)
|
rs1277275682
|
0.00001
|
|
NM_001267550.2(TTN):c.11775G>A (p.Val3925=)
|
rs931107392
|
0.00001
|
|
NM_001267550.2(TTN):c.11799A>C (p.Gly3933=)
|
rs375518434
|
0.00001
|
|
NM_001267550.2(TTN):c.1185C>T (p.Ala395=)
|
rs372346898
|
0.00001
|
|
NM_001267550.2(TTN):c.12057G>A (p.Glu4019=)
|
rs774370502
|
0.00001
|
|
NM_001267550.2(TTN):c.12078G>A (p.Leu4026=)
|
rs926556907
|
0.00001
|
|
NM_001267550.2(TTN):c.12099A>T (p.Thr4033=)
|
rs781206140
|
0.00001
|
|
NM_001267550.2(TTN):c.12177T>A (p.Gly4059=)
|
rs761760491
|
0.00001
|
|
NM_001267550.2(TTN):c.12294T>C (p.Ala4098=)
|
rs1386491689
|
0.00001
|
|
NM_001267550.2(TTN):c.12387G>A (p.Arg4129=)
|
rs199546417
|
0.00001
|
|
NM_001267550.2(TTN):c.12399C>T (p.Cys4133=)
|
rs753751110
|
0.00001
|
|
NM_001267550.2(TTN):c.12402C>T (p.Ile4134=)
|
rs1375938618
|
0.00001
|
|
NM_001267550.2(TTN):c.1246-14C>T
|
rs753427490
|
0.00001
|
|
NM_001267550.2(TTN):c.12525G>A (p.Gln4175=)
|
rs2082339506
|
0.00001
|
|
NM_001267550.2(TTN):c.12600G>A (p.Glu4200=)
|
rs1028167182
|
0.00001
|
|
NM_001267550.2(TTN):c.12681C>T (p.Thr4227=)
|
rs2082312081
|
0.00001
|
|
NM_001267550.2(TTN):c.12708A>G (p.Pro4236=)
|
rs2082307443
|
0.00001
|
|
NM_001267550.2(TTN):c.12714A>G (p.Glu4238=)
|
rs2082306677
|
0.00001
|
|
NM_001267550.2(TTN):c.12723A>G (p.Val4241=)
|
rs2082304621
|
0.00001
|
|
NM_001267550.2(TTN):c.12726T>C (p.Ser4242=)
|
rs1191147375
|
0.00001
|
|
NM_001267550.2(TTN):c.12744A>G (p.Gln4248=)
|
rs879224470
|
0.00001
|
|
NM_001267550.2(TTN):c.12762G>A (p.Lys4254=)
|
rs372524612
|
0.00001
|
|
NM_001267550.2(TTN):c.12804T>G (p.Ala4268=)
|
rs796413220
|
0.00001
|
|
NM_001267550.2(TTN):c.12994C>T (p.Leu4332=)
|
rs780049225
|
0.00001
|
|
NM_001267550.2(TTN):c.12999A>G (p.Ala4333=)
|
rs998243378
|
0.00001
|
|
NM_001267550.2(TTN):c.13044C>T (p.Asn4348=)
|
rs879161892
|
0.00001
|
|
NM_001267550.2(TTN):c.13068C>A (p.Ile4356=)
|
rs1553938065
|
0.00001
|
|
NM_001267550.2(TTN):c.13086G>A (p.Glu4362=)
|
rs753471578
|
0.00001
|
|
NM_001267550.2(TTN):c.13122A>C (p.Gly4374=)
|
rs775547592
|
0.00001
|
|
NM_001267550.2(TTN):c.13275G>A (p.Val4425=)
|
rs1370815489
|
0.00001
|
|
NM_001267550.2(TTN):c.13281C>T (p.Val4427=)
|
rs551703401
|
0.00001
|
|
NM_001267550.2(TTN):c.13296C>T (p.Ile4432=)
|
rs1195699934
|
0.00001
|
|
NM_001267550.2(TTN):c.13335T>A (p.Val4445=)
|
rs1397254383
|
0.00001
|
|
NM_001267550.2(TTN):c.13365A>G (p.Val4455=)
|
rs956041710
|
0.00001
|
|
NM_001267550.2(TTN):c.1341G>A (p.Glu447=)
|
rs1181216377
|
0.00001
|
|
NM_001267550.2(TTN):c.13518A>G (p.Glu4506=)
|
rs764376907
|
0.00001
|
|
NM_001267550.2(TTN):c.13572T>C (p.Val4524=)
|
rs930888410
|
0.00001
|
|
NM_001267550.2(TTN):c.13584T>C (p.Tyr4528=)
|
rs780863409
|
0.00001
|
|
NM_001267550.2(TTN):c.13617C>T (p.Asn4539=)
|
rs764466989
|
0.00001
|
|
NM_001267550.2(TTN):c.1377C>T (p.His459=)
|
rs770514023
|
0.00001
|
|
NM_001267550.2(TTN):c.13809G>A (p.Glu4603=)
|
rs770564701
|
0.00001
|
|
NM_001267550.2(TTN):c.13839G>A (p.Val4613=)
|
rs1307850717
|
0.00001
|
|
NM_001267550.2(TTN):c.13872C>T (p.His4624=)
|
rs765700138
|
0.00001
|
|
NM_001267550.2(TTN):c.13908T>C (p.Asn4636=)
|
rs1553936091
|
0.00001
|
|
NM_001267550.2(TTN):c.14022G>A (p.Glu4674=)
|
rs761849101
|
0.00001
|
|
NM_001267550.2(TTN):c.14093-16C>T
|
rs1057523430
|
0.00001
|
|
NM_001267550.2(TTN):c.14109G>A (p.Lys4703=)
|
rs1378752176
|
0.00001
|
|
NM_001267550.2(TTN):c.14175T>C (p.Ser4725=)
|
rs774594532
|
0.00001
|
|
NM_001267550.2(TTN):c.14181C>T (p.Pro4727=)
|
rs771138425
|
0.00001
|
|
NM_001267550.2(TTN):c.14223T>C (p.Tyr4741=)
|
rs368835028
|
0.00001
|
|
NM_001267550.2(TTN):c.14286C>T (p.Thr4762=)
|
rs759678711
|
0.00001
|
|
NM_001267550.2(TTN):c.14313A>G (p.Thr4771=)
|
rs556020515
|
0.00001
|
|
NM_001267550.2(TTN):c.14394C>G (p.Leu4798=)
|
rs754729983
|
0.00001
|
|
NM_001267550.2(TTN):c.1446C>T (p.Ala482=)
|
rs183258737
|
0.00001
|
|
NM_001267550.2(TTN):c.14496T>C (p.Gly4832=)
|
rs1261358878
|
0.00001
|
|
NM_001267550.2(TTN):c.14526G>A (p.Arg4842=)
|
rs754160697
|
0.00001
|
|
NM_001267550.2(TTN):c.1452T>C (p.Asp484=)
|
rs746610206
|
0.00001
|
|
NM_001267550.2(TTN):c.1464A>G (p.Glu488=)
|
rs779783043
|
0.00001
|
|
NM_001267550.2(TTN):c.14655T>C (p.Ile4885=)
|
rs1560853931
|
0.00001
|
|
NM_001267550.2(TTN):c.14670C>T (p.Phe4890=)
|
rs1260191732
|
0.00001
|
|
NM_001267550.2(TTN):c.14721T>C (p.Leu4907=)
|
rs1470683370
|
0.00001
|
|
NM_001267550.2(TTN):c.14790A>G (p.Pro4930=)
|
rs200745103
|
0.00001
|
|
NM_001267550.2(TTN):c.14835T>C (p.Leu4945=)
|
rs1458464216
|
0.00001
|
|
NM_001267550.2(TTN):c.14925C>G (p.Val4975=)
|
rs765070689
|
0.00001
|
|
NM_001267550.2(TTN):c.15003C>T (p.Leu5001=)
|
rs1430516736
|
0.00001
|
|
NM_001267550.2(TTN):c.15006T>C (p.His5002=)
|
rs771278620
|
0.00001
|
|
NM_001267550.2(TTN):c.15054T>C (p.Asn5018=)
|
rs2081171658
|
0.00001
|
|
NM_001267550.2(TTN):c.15111T>A (p.Ala5037=)
|
rs2081160520
|
0.00001
|
|
NM_001267550.2(TTN):c.15147T>C (p.Ser5049=)
|
rs774593004
|
0.00001
|
|
NM_001267550.2(TTN):c.15273T>C (p.Asn5091=)
|
rs1178246344
|
0.00001
|
|
NM_001267550.2(TTN):c.15309A>G (p.Pro5103=)
|
rs1222878788
|
0.00001
|
|
NM_001267550.2(TTN):c.15345T>A (p.Ile5115=)
|
rs878891236
|
0.00001
|
|
NM_001267550.2(TTN):c.15408G>A (p.Ser5136=)
|
rs761269554
|
0.00001
|
|
NM_001267550.2(TTN):c.15420A>G (p.Ala5140=)
|
rs1297689224
|
0.00001
|
|
NM_001267550.2(TTN):c.15492C>T (p.Leu5164=)
|
rs776497718
|
0.00001
|
|
NM_001267550.2(TTN):c.15496+20A>T
|
rs2081058208
|
0.00001
|
|
NM_001267550.2(TTN):c.15528T>C (p.Asp5176=)
|
rs768534143
|
0.00001
|
|
NM_001267550.2(TTN):c.15618G>A (p.Glu5206=)
|
rs1298664139
|
0.00001
|
|
NM_001267550.2(TTN):c.15775+8T>C
|
rs371673901
|
0.00001
|
|
NM_001267550.2(TTN):c.15775+9A>G
|
rs746563654
|
0.00001
|
|
NM_001267550.2(TTN):c.15776-8C>T
|
rs751405752
|
0.00001
|
|
NM_001267550.2(TTN):c.15807G>A (p.Leu5269=)
|
rs1291505269
|
0.00001
|
|
NM_001267550.2(TTN):c.1584C>T (p.Ser528=)
|
rs267599093
|
0.00001
|
|
NM_001267550.2(TTN):c.15861G>A (p.Thr5287=)
|
rs370299812
|
0.00001
|
|
NM_001267550.2(TTN):c.15939C>T (p.Asn5313=)
|
rs1277351962
|
0.00001
|
|
NM_001267550.2(TTN):c.15972G>A (p.Glu5324=)
|
rs1057522988
|
0.00001
|
|
NM_001267550.2(TTN):c.15981C>T (p.Asp5327=)
|
rs1278975928
|
0.00001
|
|
NM_001267550.2(TTN):c.16017G>A (p.Val5339=)
|
rs587780989
|
0.00001
|
|
NM_001267550.2(TTN):c.16055-11G>A
|
rs763387126
|
0.00001
|
|
NM_001267550.2(TTN):c.16159A>C (p.Arg5387=)
|
rs371501460
|
0.00001
|
|
NM_001267550.2(TTN):c.16342+17G>A
|
rs1026013164
|
0.00001
|
|
NM_001267550.2(TTN):c.16343-12C>T
|
rs895860682
|
0.00001
|
|
NM_001267550.2(TTN):c.16365A>G (p.Lys5455=)
|
rs1294497237
|
0.00001
|
|
NM_001267550.2(TTN):c.16440A>C (p.Thr5480=)
|
rs763831832
|
0.00001
|
|
NM_001267550.2(TTN):c.16467G>A (p.Glu5489=)
|
rs1479084461
|
0.00001
|
|
NM_001267550.2(TTN):c.16530T>C (p.Tyr5510=)
|
rs970449071
|
0.00001
|
|
NM_001267550.2(TTN):c.1653T>G (p.Thr551=)
|
rs1446225251
|
0.00001
|
|
NM_001267550.2(TTN):c.16743T>C (p.Asp5581=)
|
rs754798297
|
0.00001
|
|
NM_001267550.2(TTN):c.16854C>T (p.Ala5618=)
|
rs769489900
|
0.00001
|
|
NM_001267550.2(TTN):c.16893A>G (p.Val5631=)
|
rs757393270
|
0.00001
|
|
NM_001267550.2(TTN):c.16956C>T (p.Tyr5652=)
|
rs755186242
|
0.00001
|
|
NM_001267550.2(TTN):c.17082G>T (p.Leu5694=)
|
rs750996600
|
0.00001
|
|
NM_001267550.2(TTN):c.17145G>T (p.Val5715=)
|
rs1199177902
|
0.00001
|
|
NM_001267550.2(TTN):c.17183-13A>T
|
rs768911428
|
0.00001
|
|
NM_001267550.2(TTN):c.17301C>T (p.Ser5767=)
|
rs777677229
|
0.00001
|
|
NM_001267550.2(TTN):c.1731A>G (p.Leu577=)
|
rs1421574674
|
0.00001
|
|
NM_001267550.2(TTN):c.17346C>T (p.Asn5782=)
|
rs535281449
|
0.00001
|
|
NM_001267550.2(TTN):c.17445A>G (p.Ala5815=)
|
rs1227218365
|
0.00001
|
|
NM_001267550.2(TTN):c.17461+14G>A
|
rs751425418
|
0.00001
|
|
NM_001267550.2(TTN):c.17556T>C (p.Ile5852=)
|
rs370776424
|
0.00001
|
|
NM_001267550.2(TTN):c.17577T>C (p.Asp5859=)
|
rs1419421654
|
0.00001
|
|
NM_001267550.2(TTN):c.17733T>C (p.Asn5911=)
|
rs912253842
|
0.00001
|
|
NM_001267550.2(TTN):c.17741-6G>A
|
rs748443352
|
0.00001
|
|
NM_001267550.2(TTN):c.17910T>C (p.His5970=)
|
rs1175537809
|
0.00001
|
|
NM_001267550.2(TTN):c.1800+16C>T
|
rs754460012
|
0.00001
|
|
NM_001267550.2(TTN):c.18028+17T>C
|
rs764325809
|
0.00001
|
|
NM_001267550.2(TTN):c.18029-9T>C
|
rs779377464
|
0.00001
|
|
NM_001267550.2(TTN):c.18091T>C (p.Leu6031=)
|
rs1479135347
|
0.00001
|
|
NM_001267550.2(TTN):c.18150A>G (p.Lys6050=)
|
rs991259759
|
0.00001
|
|
NM_001267550.2(TTN):c.18159C>T (p.His6053=)
|
rs2080192781
|
0.00001
|
|
NM_001267550.2(TTN):c.18297C>T (p.Leu6099=)
|
rs764712226
|
0.00001
|
|
NM_001267550.2(TTN):c.18308-17T>C
|
rs1392151041
|
0.00001
|
|
NM_001267550.2(TTN):c.18308-8A>G
|
rs754178580
|
0.00001
|
|
NM_001267550.2(TTN):c.18330G>A (p.Lys6110=)
|
rs1350814757
|
0.00001
|
|
NM_001267550.2(TTN):c.18381C>T (p.Cys6127=)
|
rs371610668
|
0.00001
|
|
NM_001267550.2(TTN):c.18426C>T (p.Asp6142=)
|
rs1435792777
|
0.00001
|
|
NM_001267550.2(TTN):c.18558G>A (p.Thr6186=)
|
rs778145097
|
0.00001
|
|
NM_001267550.2(TTN):c.18589+18A>G
|
rs752521286
|
0.00001
|
|
NM_001267550.2(TTN):c.18597C>A (p.Pro6199=)
|
rs753370006
|
0.00001
|
|
NM_001267550.2(TTN):c.18600C>G (p.Thr6200=)
|
rs1224786438
|
0.00001
|
|
NM_001267550.2(TTN):c.18618G>A (p.Lys6206=)
|
rs1348113407
|
0.00001
|
|
NM_001267550.2(TTN):c.18669G>A (p.Thr6223=)
|
rs772600691
|
0.00001
|
|
NM_001267550.2(TTN):c.18675A>G (p.Thr6225=)
|
rs2080000865
|
0.00001
|
|
NM_001267550.2(TTN):c.1869A>G (p.Gln623=)
|
rs750034931
|
0.00001
|
|
NM_001267550.2(TTN):c.18717T>A (p.Ile6239=)
|
rs765483284
|
0.00001
|
|
NM_001267550.2(TTN):c.18744C>T (p.Thr6248=)
|
rs775965000
|
0.00001
|
|
NM_001267550.2(TTN):c.18840C>T (p.Cys6280=)
|
rs1329418633
|
0.00001
|
|
NM_001267550.2(TTN):c.18868+8A>T
|
rs932365960
|
0.00001
|
|
NM_001267550.2(TTN):c.18869-11T>C
|
rs1317638543
|
0.00001
|
|
NM_001267550.2(TTN):c.18870A>G (p.Glu6290=)
|
rs777577096
|
0.00001
|
|
NM_001267550.2(TTN):c.18957T>C (p.Pro6319=)
|
rs773018365
|
0.00001
|
|
NM_001267550.2(TTN):c.18972C>T (p.Thr6324=)
|
rs769659495
|
0.00001
|
|
NM_001267550.2(TTN):c.189T>C (p.Ala63=)
|
rs1057520389
|
0.00001
|
|
NM_001267550.2(TTN):c.18G>A (p.Pro6=)
|
rs755302800
|
0.00001
|
|
NM_001267550.2(TTN):c.19023A>G (p.Ser6341=)
|
rs1256528190
|
0.00001
|
|
NM_001267550.2(TTN):c.19147+12A>T
|
rs72648952
|
0.00001
|
|
NM_001267550.2(TTN):c.19203C>T (p.Pro6401=)
|
rs369538649
|
0.00001
|
|
NM_001267550.2(TTN):c.1920G>A (p.Val640=)
|
rs1361872004
|
0.00001
|
|
NM_001267550.2(TTN):c.19314C>T (p.Asn6438=)
|
rs756954714
|
0.00001
|
|
NM_001267550.2(TTN):c.19317G>C (p.Val6439=)
|
rs878854289
|
0.00001
|
|
NM_001267550.2(TTN):c.19389C>T (p.Phe6463=)
|
rs267599062
|
0.00001
|
|
NM_001267550.2(TTN):c.19426+17C>A
|
rs1264429783
|
0.00001
|
|
NM_001267550.2(TTN):c.19426+7A>G
|
rs756760290
|
0.00001
|
|
NM_001267550.2(TTN):c.19427-10C>T
|
rs1273448289
|
0.00001
|
|
NM_001267550.2(TTN):c.19427-20T>C
|
rs765524995
|
0.00001
|
|
NM_001267550.2(TTN):c.19491T>C (p.Ser6497=)
|
rs750568891
|
0.00001
|
|
NM_001267550.2(TTN):c.19581C>T (p.Tyr6527=)
|
rs746828415
|
0.00001
|
|
NM_001267550.2(TTN):c.19714+19C>T
|
rs776163026
|
0.00001
|
|
NM_001267550.2(TTN):c.19715-16C>G
|
rs1027256053
|
0.00001
|
|
NM_001267550.2(TTN):c.19715-20A>G
|
rs749359497
|
0.00001
|
|
NM_001267550.2(TTN):c.19715-7T>C
|
rs532527175
|
0.00001
|
|
NM_001267550.2(TTN):c.198G>A (p.Thr66=)
|
rs764223195
|
0.00001
|
|
NM_001267550.2(TTN):c.19977G>A (p.Thr6659=)
|
rs1060503954
|
0.00001
|
|
NM_001267550.2(TTN):c.19983G>A (p.Leu6661=)
|
rs1383144902
|
0.00001
|
|
NM_001267550.2(TTN):c.19994-13C>T
|
rs775393005
|
0.00001
|
|
NM_001267550.2(TTN):c.20085A>C (p.Pro6695=)
|
rs1287032649
|
0.00001
|
|
NM_001267550.2(TTN):c.20169C>T (p.Ala6723=)
|
rs727504776
|
0.00001
|
|
NM_001267550.2(TTN):c.20235C>T (p.Pro6745=)
|
rs528625782
|
0.00001
|
|
NM_001267550.2(TTN):c.20283T>C (p.Pro6761=)
|
rs1467347098
|
0.00001
|
|
NM_001267550.2(TTN):c.2077-12C>T
|
rs988316772
|
0.00001
|
|
NM_001267550.2(TTN):c.20808G>A (p.Arg6936=)
|
rs773342572
|
0.00001
|
|
NM_001267550.2(TTN):c.2082C>T (p.Asp694=)
|
rs534874686
|
0.00001
|
|
NM_001267550.2(TTN):c.20836+19G>A
|
rs746605069
|
0.00001
|
|
NM_001267550.2(TTN):c.20836+8C>T
|
rs768718820
|
0.00001
|
|
NM_001267550.2(TTN):c.20836+9A>G
|
rs982238257
|
0.00001
|
|
NM_001267550.2(TTN):c.20841C>T (p.Pro6947=)
|
rs768971707
|
0.00001
|
|
NM_001267550.2(TTN):c.20892G>A (p.Thr6964=)
|
rs727504623
|
0.00001
|
|
NM_001267550.2(TTN):c.20937T>C (p.Val6979=)
|
rs2078985500
|
0.00001
|
|
NM_001267550.2(TTN):c.210G>T (p.Val70=)
|
rs746033038
|
0.00001
|
|
NM_001267550.2(TTN):c.21115+8C>T
|
rs1199697682
|
0.00001
|
|
NM_001267550.2(TTN):c.21273A>G (p.Gln7091=)
|
rs878903172
|
0.00001
|
|
NM_001267550.2(TTN):c.21279A>G (p.Thr7093=)
|
rs727504765
|
0.00001
|
|
NM_001267550.2(TTN):c.21348C>T (p.Cys7116=)
|
rs750661972
|
0.00001
|
|
NM_001267550.2(TTN):c.21354T>G (p.Ala7118=)
|
rs754163259
|
0.00001
|
|
NM_001267550.2(TTN):c.21403+9A>T
|
rs1456074713
|
0.00001
|
|
NM_001267550.2(TTN):c.21417T>C (p.Phe7139=)
|
rs886042283
|
0.00001
|
|
NM_001267550.2(TTN):c.21570T>G (p.Thr7190=)
|
rs889991615
|
0.00001
|
|
NM_001267550.2(TTN):c.2157G>A (p.Glu719=)
|
rs762041830
|
0.00001
|
|
NM_001267550.2(TTN):c.21624C>T (p.Thr7208=)
|
rs372818044
|
0.00001
|
|
NM_001267550.2(TTN):c.21666C>A (p.Thr7222=)
|
rs1041546705
|
0.00001
|
|
NM_001267550.2(TTN):c.21683-15T>A
|
rs561254355
|
0.00001
|
|
NM_001267550.2(TTN):c.21717T>C (p.His7239=)
|
rs912862413
|
0.00001
|
|
NM_001267550.2(TTN):c.21870G>C (p.Leu7290=)
|
rs2078707088
|
0.00001
|
|
NM_001267550.2(TTN):c.21888T>C (p.Asp7296=)
|
rs767681708
|
0.00001
|
|
NM_001267550.2(TTN):c.21900T>C (p.Tyr7300=)
|
rs1430630528
|
0.00001
|
|
NM_001267550.2(TTN):c.21981G>T (p.Thr7327=)
|
rs775230627
|
0.00001
|
|
NM_001267550.2(TTN):c.21G>A (p.Thr7=)
|
rs535956871
|
0.00001
|
|
NM_001267550.2(TTN):c.22017G>A (p.Ser7339=)
|
rs777676361
|
0.00001
|
|
NM_001267550.2(TTN):c.22155G>A (p.Val7385=)
|
rs767194863
|
0.00001
|
|
NM_001267550.2(TTN):c.22240+14A>G
|
rs1288832655
|
0.00001
|
|
NM_001267550.2(TTN):c.22241-14A>G
|
rs371352901
|
0.00001
|
|
NM_001267550.2(TTN):c.2229C>T (p.Ala743=)
|
rs746990488
|
0.00001
|
|
NM_001267550.2(TTN):c.22359T>C (p.Tyr7453=)
|
rs778154239
|
0.00001
|
|
NM_001267550.2(TTN):c.22528+14T>C
|
rs767250979
|
0.00001
|
|
NM_001267550.2(TTN):c.22529-20C>G
|
rs1356521619
|
0.00001
|
|
NM_001267550.2(TTN):c.22529-9A>G
|
rs1429306712
|
0.00001
|
|
NM_001267550.2(TTN):c.2253A>G (p.Gln751=)
|
rs144495525
|
0.00001
|
|
NM_001267550.2(TTN):c.22629G>A (p.Pro7543=)
|
rs776917811
|
0.00001
|
|
NM_001267550.2(TTN):c.22714T>C (p.Leu7572=)
|
rs767716643
|
0.00001
|
|
NM_001267550.2(TTN):c.22806C>T (p.Leu7602=)
|
rs375666120
|
0.00001
|
|
NM_001267550.2(TTN):c.22817-15T>G
|
rs727504821
|
0.00001
|
|
NM_001267550.2(TTN):c.22817-9G>A
|
rs1396585490
|
0.00001
|
|
NM_001267550.2(TTN):c.22860A>G (p.Ala7620=)
|
rs778145134
|
0.00001
|
|
NM_001267550.2(TTN):c.22993T>C (p.Leu7665=)
|
rs878916672
|
0.00001
|
|
NM_001267550.2(TTN):c.23091A>G (p.Thr7697=)
|
rs1198504900
|
0.00001
|
|
NM_001267550.2(TTN):c.23100A>T (p.Ala7700=)
|
rs775508685
|
0.00001
|
|
NM_001267550.2(TTN):c.23250C>T (p.Ile7750=)
|
rs1060503967
|
0.00001
|
|
NM_001267550.2(TTN):c.23277T>C (p.Leu7759=)
|
rs2078177919
|
0.00001
|
|
NM_001267550.2(TTN):c.23325A>G (p.Lys7775=)
|
rs1232018476
|
0.00001
|
|
NM_001267550.2(TTN):c.23352G>A (p.Thr7784=)
|
rs745476881
|
0.00001
|
|
NM_001267550.2(TTN):c.23377+18C>T
|
rs373995323
|
0.00001
|
|
NM_001267550.2(TTN):c.23377+7A>G
|
rs377655856
|
0.00001
|
|
NM_001267550.2(TTN):c.23469A>G (p.Pro7823=)
|
rs551736293
|
0.00001
|
|
NM_001267550.2(TTN):c.23622T>C (p.Ala7874=)
|
rs777752532
|
0.00001
|
|
NM_001267550.2(TTN):c.23814A>G (p.Thr7938=)
|
rs566680341
|
0.00001
|
|
NM_001267550.2(TTN):c.23847C>T (p.Pro7949=)
|
rs377009958
|
0.00001
|
|
NM_001267550.2(TTN):c.23880C>T (p.Ser7960=)
|
rs1330673944
|
0.00001
|
|
NM_001267550.2(TTN):c.2391A>G (p.Leu797=)
|
rs147124267
|
0.00001
|
|
NM_001267550.2(TTN):c.23939-13C>A
|
rs876658045
|
0.00001
|
|
NM_001267550.2(TTN):c.23979C>T (p.Asp7993=)
|
rs751011918
|
0.00001
|
|
NM_001267550.2(TTN):c.23997G>A (p.Gly7999=)
|
rs1261213256
|
0.00001
|
|
NM_001267550.2(TTN):c.24000C>T (p.Ala8000=)
|
rs764876147
|
0.00001
|
|
NM_001267550.2(TTN):c.24012G>A (p.Leu8004=)
|
rs879119850
|
0.00001
|
|
NM_001267550.2(TTN):c.24171T>C (p.Cys8057=)
|
rs777482646
|
0.00001
|
|
NM_001267550.2(TTN):c.24207A>G (p.Ser8069=)
|
rs370099448
|
0.00001
|
|
NM_001267550.2(TTN):c.24390T>C (p.Asp8130=)
|
rs1158674912
|
0.00001
|
|
NM_001267550.2(TTN):c.24444T>C (p.Tyr8148=)
|
rs775467284
|
0.00001
|
|
NM_001267550.2(TTN):c.24453C>T (p.Leu8151=)
|
rs772386098
|
0.00001
|
|
NM_001267550.2(TTN):c.24492T>C (p.His8164=)
|
rs2077879773
|
0.00001
|
|
NM_001267550.2(TTN):c.24505+12C>T
|
rs764092955
|
0.00001
|
|
NM_001267550.2(TTN):c.24506-8C>G
|
rs748675191
|
0.00001
|
|
NM_001267550.2(TTN):c.24519T>C (p.Phe8173=)
|
rs878999612
|
0.00001
|
|
NM_001267550.2(TTN):c.24588C>A (p.Gly8196=)
|
rs1057523933
|
0.00001
|
|
NM_001267550.2(TTN):c.24696G>A (p.Glu8232=)
|
rs2077824078
|
0.00001
|
|
NM_001267550.2(TTN):c.24720G>A (p.Gln8240=)
|
rs1350676942
|
0.00001
|
|
NM_001267550.2(TTN):c.24723C>T (p.Tyr8241=)
|
rs374437449
|
0.00001
|
|
NM_001267550.2(TTN):c.24729C>T (p.Cys8243=)
|
rs751527077
|
0.00001
|
|
NM_001267550.2(TTN):c.24784+12G>C
|
rs747821616
|
0.00001
|
|
NM_001267550.2(TTN):c.24852G>A (p.Gln8284=)
|
rs1375269044
|
0.00001
|
|
NM_001267550.2(TTN):c.24888T>C (p.Ser8296=)
|
rs535603112
|
0.00001
|
|
NM_001267550.2(TTN):c.24927A>G (p.Ala8309=)
|
rs1179963628
|
0.00001
|
|
NM_001267550.2(TTN):c.2493+16G>A
|
rs1195233066
|
0.00001
|
|
NM_001267550.2(TTN):c.2493+18A>G
|
rs750885375
|
0.00001
|
|
NM_001267550.2(TTN):c.2494-17A>C
|
rs768930865
|
0.00001
|
|
NM_001267550.2(TTN):c.2494-5T>C
|
rs370759512
|
0.00001
|
|
NM_001267550.2(TTN):c.2494-7C>A
|
rs758664336
|
0.00001
|
|
NM_001267550.2(TTN):c.24957T>C (p.Ala8319=)
|
rs758868965
|
0.00001
|
|
NM_001267550.2(TTN):c.25035C>T (p.Val8345=)
|
rs781552736
|
0.00001
|
|
NM_001267550.2(TTN):c.2505C>T (p.Ala835=)
|
rs754725705
|
0.00001
|
|
NM_001267550.2(TTN):c.25064-4A>G
|
rs747247583
|
0.00001
|
|
NM_001267550.2(TTN):c.25155C>T (p.Gly8385=)
|
rs772383867
|
0.00001
|
|
NM_001267550.2(TTN):c.25351+7A>G
|
rs753224694
|
0.00001
|
|
NM_001267550.2(TTN):c.25352-18G>T
|
rs2077644291
|
0.00001
|
|
NM_001267550.2(TTN):c.25392A>C (p.Ser8464=)
|
rs766560212
|
0.00001
|
|
NM_001267550.2(TTN):c.25434T>C (p.His8478=)
|
rs1309181933
|
0.00001
|
|
NM_001267550.2(TTN):c.25599C>T (p.Ile8533=)
|
rs779856071
|
0.00001
|
|
NM_001267550.2(TTN):c.2559G>A (p.Gln853=)
|
rs1259006061
|
0.00001
|
|
NM_001267550.2(TTN):c.25639+11G>C
|
rs1054934179
|
0.00001
|
|
NM_001267550.2(TTN):c.25639+7G>C
|
rs1365164180
|
0.00001
|
|
NM_001267550.2(TTN):c.25640-4A>G
|
rs886055292
|
0.00001
|
|
NM_001267550.2(TTN):c.25640-8T>C
|
rs1184501172
|
0.00001
|
|
NM_001267550.2(TTN):c.2568C>T (p.Thr856=)
|
rs1282647790
|
0.00001
|
|
NM_001267550.2(TTN):c.25719C>T (p.Ile8573=)
|
rs878991106
|
0.00001
|
|
NM_001267550.2(TTN):c.2574G>C (p.Ser858=)
|
rs1265382651
|
0.00001
|
|
NM_001267550.2(TTN):c.25800C>T (p.Phe8600=)
|
rs1215707268
|
0.00001
|
|
NM_001267550.2(TTN):c.2580G>A (p.Lys860=)
|
rs1171635736
|
0.00001
|
|
NM_001267550.2(TTN):c.25845A>G (p.Glu8615=)
|
rs758944073
|
0.00001
|
|
NM_001267550.2(TTN):c.25980T>C (p.Val8660=)
|
rs1323872872
|
0.00001
|
|
NM_001267550.2(TTN):c.26067C>T (p.Tyr8689=)
|
rs377125716
|
0.00001
|
|
NM_001267550.2(TTN):c.26106C>T (p.Ile8702=)
|
rs1383376933
|
0.00001
|
|
NM_001267550.2(TTN):c.26201-20C>A
|
rs761178461
|
0.00001
|
|
NM_001267550.2(TTN):c.26217G>A (p.Val8739=)
|
rs748042389
|
0.00001
|
|
NM_001267550.2(TTN):c.26229T>C (p.Ser8743=)
|
rs2077169820
|
0.00001
|
|
NM_001267550.2(TTN):c.26244C>T (p.Val8748=)
|
rs780219663
|
0.00001
|
|
NM_001267550.2(TTN):c.26247T>C (p.Val8749=)
|
rs765248456
|
0.00001
|
|
NM_001267550.2(TTN):c.2632T>C (p.Leu878=)
|
rs753808522
|
0.00001
|
|
NM_001267550.2(TTN):c.26373T>C (p.Ile8791=)
|
rs949446550
|
0.00001
|
|
NM_001267550.2(TTN):c.26397G>A (p.Val8799=)
|
rs1445714877
|
0.00001
|
|
NM_001267550.2(TTN):c.26483-15T>C
|
rs773950331
|
0.00001
|
|
NM_001267550.2(TTN):c.2649C>T (p.Phe883=)
|
rs775588479
|
0.00001
|
|
NM_001267550.2(TTN):c.26529G>A (p.Thr8843=)
|
rs747558822
|
0.00001
|
|
NM_001267550.2(TTN):c.26652A>G (p.Val8884=)
|
rs746179492
|
0.00001
|
|
NM_001267550.2(TTN):c.26691T>C (p.Ser8897=)
|
rs758433199
|
0.00001
|
|
NM_001267550.2(TTN):c.26762-9A>G
|
rs200821070
|
0.00001
|
|
NM_001267550.2(TTN):c.26769C>T (p.Thr8923=)
|
rs373578441
|
0.00001
|
|
NM_001267550.2(TTN):c.267G>A (p.Ala89=)
|
rs577716745
|
0.00001
|
|
NM_001267550.2(TTN):c.26916C>T (p.Tyr8972=)
|
rs762329439
|
0.00001
|
|
NM_001267550.2(TTN):c.26958C>T (p.Asn8986=)
|
rs1398273084
|
0.00001
|
|
NM_001267550.2(TTN):c.27045G>A (p.Val9015=)
|
rs769752606
|
0.00001
|
|
NM_001267550.2(TTN):c.27153C>T (p.Ser9051=)
|
rs1159097738
|
0.00001
|
|
NM_001267550.2(TTN):c.27237C>T (p.Phe9079=)
|
rs762681330
|
0.00001
|
|
NM_001267550.2(TTN):c.27240T>C (p.Asp9080=)
|
rs1418163017
|
0.00001
|
|
NM_001267550.2(TTN):c.27261A>G (p.Gly9087=)
|
rs878854295
|
0.00001
|
|
NM_001267550.2(TTN):c.27273C>T (p.Cys9091=)
|
rs375546576
|
0.00001
|
|
NM_001267550.2(TTN):c.2730C>T (p.Thr910=)
|
rs375432172
|
0.00001
|
|
NM_001267550.2(TTN):c.27312A>G (p.Thr9104=)
|
rs192433938
|
0.00001
|
|
NM_001267550.2(TTN):c.27328+16C>T
|
rs915309849
|
0.00001
|
|
NM_001267550.2(TTN):c.27328+5G>A
|
rs397517521
|
0.00001
|
|
NM_001267550.2(TTN):c.27329-19T>G
|
rs1177152807
|
0.00001
|
|
NM_001267550.2(TTN):c.27385C>T (p.Leu9129=)
|
rs2076810907
|
0.00001
|
|
NM_001267550.2(TTN):c.27489T>C (p.Thr9163=)
|
rs1012006021
|
0.00001
|
|
NM_001267550.2(TTN):c.27627G>A (p.Lys9209=)
|
rs772596751
|
0.00001
|
|
NM_001267550.2(TTN):c.27639G>A (p.Pro9213=)
|
rs541105227
|
0.00001
|
|
NM_001267550.2(TTN):c.2766C>T (p.Arg922=)
|
rs372617952
|
0.00001
|
|
NM_001267550.2(TTN):c.27670C>T (p.Leu9224=)
|
rs757147575
|
0.00001
|
|
NM_001267550.2(TTN):c.27705G>A (p.Gly9235=)
|
rs759964251
|
0.00001
|
|
NM_001267550.2(TTN):c.27711C>T (p.Ser9237=)
|
rs727504749
|
0.00001
|
|
NM_001267550.2(TTN):c.27783A>G (p.Thr9261=)
|
rs1221102112
|
0.00001
|
|
NM_001267550.2(TTN):c.2778A>G (p.Val926=)
|
rs886038714
|
0.00001
|
|
NM_001267550.2(TTN):c.27810T>C (p.Asn9270=)
|
rs370188078
|
0.00001
|
|
NM_001267550.2(TTN):c.27825T>C (p.Tyr9275=)
|
rs375790254
|
0.00001
|
|
NM_001267550.2(TTN):c.27914G>A (p.Arg9305Gln)
|
rs397517527
|
0.00001
|
|
NM_001267550.2(TTN):c.28005T>C (p.Tyr9335=)
|
rs779526034
|
0.00001
|
|
NM_001267550.2(TTN):c.28029C>T (p.Asp9343=)
|
rs751194103
|
0.00001
|
|
NM_001267550.2(TTN):c.28055T>C (p.Leu9352Ser)
|
rs776487201
|
0.00001
|
|
NM_001267550.2(TTN):c.28080T>A (p.Ile9360=)
|
rs1220122597
|
0.00001
|
|
NM_001267550.2(TTN):c.2823T>C (p.Thr941=)
|
rs1396426940
|
0.00001
|
|
NM_001267550.2(TTN):c.28293C>G (p.Ala9431=)
|
rs533580342
|
0.00001
|
|
NM_001267550.2(TTN):c.28353C>T (p.Ser9451=)
|
rs777096848
|
0.00001
|
|
NM_001267550.2(TTN):c.28425G>T (p.Val9475=)
|
rs727503642
|
0.00001
|
|
NM_001267550.2(TTN):c.28446T>C (p.Ala9482=)
|
rs1270390229
|
0.00001
|
|
NM_001267550.2(TTN):c.28509A>G (p.Val9503=)
|
rs756229382
|
0.00001
|
|
NM_001267550.2(TTN):c.28653G>C (p.Leu9551=)
|
rs876657601
|
0.00001
|
|
NM_001267550.2(TTN):c.28692C>T (p.Tyr9564=)
|
rs749105848
|
0.00001
|
|
NM_001267550.2(TTN):c.28710T>C (p.Asn9570=)
|
rs727504991
|
0.00001
|
|
NM_001267550.2(TTN):c.28713T>C (p.Asp9571=)
|
rs796888116
|
0.00001
|
|
NM_001267550.2(TTN):c.28740A>C (p.Ser9580=)
|
rs1165320251
|
0.00001
|
|
NM_001267550.2(TTN):c.28743C>T (p.Ile9581=)
|
rs767025609
|
0.00001
|
|
NM_001267550.2(TTN):c.28753+12T>G
|
rs1203595218
|
0.00001
|
|
NM_001267550.2(TTN):c.2880C>T (p.Val960=)
|
rs1561366469
|
0.00001
|
|
NM_001267550.2(TTN):c.29019C>G (p.Thr9673=)
|
rs774885269
|
0.00001
|
|
NM_001267550.2(TTN):c.29094C>G (p.Leu9698=)
|
rs763143292
|
0.00001
|
|
NM_001267550.2(TTN):c.2916G>A (p.Pro972=)
|
rs757569345
|
0.00001
|
|
NM_001267550.2(TTN):c.29196A>G (p.Thr9732=)
|
rs1320507977
|
0.00001
|
|
NM_001267550.2(TTN):c.29202G>C (p.Gly9734=)
|
rs1306010487
|
0.00001
|
|
NM_001267550.2(TTN):c.2940C>T (p.Asp980=)
|
rs201395853
|
0.00001
|
|
NM_001267550.2(TTN):c.29420+10A>G
|
rs759753042
|
0.00001
|
|
NM_001267550.2(TTN):c.295+19G>A
|
rs545578681
|
0.00001
|
|
NM_001267550.2(TTN):c.295+8G>T
|
rs372054167
|
0.00001
|
|
NM_001267550.2(TTN):c.29559A>C (p.Ala9853=)
|
rs878976342
|
0.00001
|
|
NM_001267550.2(TTN):c.296-15C>A
|
rs200885207
|
0.00001
|
|
NM_001267550.2(TTN):c.296-19T>C
|
rs959014974
|
0.00001
|
|
NM_001267550.2(TTN):c.296-4G>A
|
rs751859793
|
0.00001
|
|
NM_001267550.2(TTN):c.29605-8C>A
|
rs1178125174
|
0.00001
|
|
NM_001267550.2(TTN):c.29700C>T (p.Val9900=)
|
rs1363173792
|
0.00001
|
|
NM_001267550.2(TTN):c.29733T>C (p.Val9911=)
|
rs749689466
|
0.00001
|
|
NM_001267550.2(TTN):c.29865A>G (p.Arg9955=)
|
rs1449359699
|
0.00001
|
|
NM_001267550.2(TTN):c.29874C>T (p.Leu9958=)
|
rs972874110
|
0.00001
|
|
NM_001267550.2(TTN):c.29931A>C (p.Pro9977=)
|
rs781508217
|
0.00001
|
|
NM_001267550.2(TTN):c.29943C>T (p.Ser9981=)
|
rs543490348
|
0.00001
|
|
NM_001267550.2(TTN):c.29962+17T>C
|
rs771760582
|
0.00001
|
|
NM_001267550.2(TTN):c.30132A>G (p.Lys10044=)
|
rs761782268
|
0.00001
|
|
NM_001267550.2(TTN):c.30219C>T (p.Ile10073=)
|
rs369709449
|
0.00001
|
|
NM_001267550.2(TTN):c.30223+15A>G
|
rs764785148
|
0.00001
|
|
NM_001267550.2(TTN):c.30224-18C>T
|
rs748735506
|
0.00001
|
|
NM_001267550.2(TTN):c.30224-7T>G
|
rs778458915
|
0.00001
|
|
NM_001267550.2(TTN):c.30228A>G (p.Glu10076=)
|
rs753296987
|
0.00001
|
|
NM_001267550.2(TTN):c.30282T>G (p.Ser10094=)
|
rs886042543
|
0.00001
|
|
NM_001267550.2(TTN):c.3033G>A (p.Gly1011=)
|
rs755565775
|
0.00001
|
|
NM_001267550.2(TTN):c.3039T>C (p.Phe1013=)
|
rs764841674
|
0.00001
|
|
NM_001267550.2(TTN):c.30414T>C (p.Asn10138=)
|
rs878990074
|
0.00001
|
|
NM_001267550.2(TTN):c.30420C>A (p.Thr10140=)
|
rs759270137
|
0.00001
|
|
NM_001267550.2(TTN):c.30434-15G>A
|
rs373562293
|
0.00001
|
|
NM_001267550.2(TTN):c.30450C>T (p.Ile10150=)
|
rs761922521
|
0.00001
|
|
NM_001267550.2(TTN):c.30511+10C>T
|
rs746874990
|
0.00001
|
|
NM_001267550.2(TTN):c.3051T>C (p.Ala1017=)
|
rs1185928356
|
0.00001
|
|
NM_001267550.2(TTN):c.30538+7T>C
|
rs969103526
|
0.00001
|
|
NM_001267550.2(TTN):c.30539-19A>G
|
rs1343835676
|
0.00001
|
|
NM_001267550.2(TTN):c.30599-19C>T
|
rs759560479
|
0.00001
|
|
NM_001267550.2(TTN):c.30675T>C (p.Arg10225=)
|
rs898902393
|
0.00001
|
|
NM_001267550.2(TTN):c.30682+7T>C
|
rs752353097
|
0.00001
|
|
NM_001267550.2(TTN):c.30683-12T>C
|
rs1239014089
|
0.00001
|
|
NM_001267550.2(TTN):c.30803-16T>A
|
rs1462530460
|
0.00001
|
|
NM_001267550.2(TTN):c.30927G>A (p.Glu10309=)
|
rs1015963344
|
0.00001
|
|
NM_001267550.2(TTN):c.3093T>G (p.Ala1031=)
|
rs375713605
|
0.00001
|
|
NM_001267550.2(TTN):c.30966C>T (p.Asp10322=)
|
rs587780979
|
0.00001
|
|
NM_001267550.2(TTN):c.3096G>A (p.Val1032=)
|
rs879114879
|
0.00001
|
|
NM_001267550.2(TTN):c.31041G>A (p.Glu10347=)
|
rs749890190
|
0.00001
|
|
NM_001267550.2(TTN):c.31207+10A>C
|
rs191252918
|
0.00001
|
|
NM_001267550.2(TTN):c.31239A>G (p.Val10413=)
|
rs778260645
|
0.00001
|
|
NM_001267550.2(TTN):c.31271-13A>T
|
rs1057523378
|
0.00001
|
|
NM_001267550.2(TTN):c.31348+9T>C
|
rs1163916390
|
0.00001
|
|
NM_001267550.2(TTN):c.31365G>A (p.Lys10455=)
|
rs762392446
|
0.00001
|
|
NM_001267550.2(TTN):c.31404G>A (p.Gln10468=)
|
rs1398027734
|
0.00001
|
|
NM_001267550.2(TTN):c.31426+11T>C
|
rs901251232
|
0.00001
|
|
NM_001267550.2(TTN):c.31494G>A (p.Glu10498=)
|
rs1452074226
|
0.00001
|
|
NM_001267550.2(TTN):c.31514-9T>A
|
rs2073018188
|
0.00001
|
|
NM_001267550.2(TTN):c.31569C>G (p.Ser10523=)
|
rs766691593
|
0.00001
|
|
NM_001267550.2(TTN):c.31594+12T>A
|
rs1210906345
|
0.00001
|
|
NM_001267550.2(TTN):c.31596C>T (p.Val10532=)
|
rs1553858068
|
0.00001
|
|
NM_001267550.2(TTN):c.3164+13G>C
|
rs750352603
|
0.00001
|
|
NM_001267550.2(TTN):c.31647C>A (p.Ile10549=)
|
rs879195515
|
0.00001
|
|
NM_001267550.2(TTN):c.31731G>A (p.Val10577=)
|
rs751447529
|
0.00001
|
|
NM_001267550.2(TTN):c.31762+16T>G
|
rs1024593046
|
0.00001
|
|
NM_001267550.2(TTN):c.31764C>T (p.Val10588=)
|
rs766441395
|
0.00001
|
|
NM_001267550.2(TTN):c.31791T>G (p.Pro10597=)
|
rs397517539
|
0.00001
|
|
NM_001267550.2(TTN):c.31846+14C>T
|
rs775807245
|
0.00001
|
|
NM_001267550.2(TTN):c.31846+17C>T
|
rs900359869
|
0.00001
|
|
NM_001267550.2(TTN):c.31846+20A>G
|
rs886038715
|
0.00001
|
|
NM_001267550.2(TTN):c.318C>T (p.Phe106=)
|
rs1219102157
|
0.00001
|
|
NM_001267550.2(TTN):c.31928-12C>T
|
rs1485950593
|
0.00001
|
|
NM_001267550.2(TTN):c.31941A>G (p.Pro10647=)
|
rs528062079
|
0.00001
|
|
NM_001267550.2(TTN):c.31989A>G (p.Glu10663=)
|
rs1276917315
|
0.00001
|
|
NM_001267550.2(TTN):c.32007A>G (p.Pro10669=)
|
rs878922366
|
0.00001
|
|
NM_001267550.2(TTN):c.32011+15T>G
|
rs886055285
|
0.00001
|
|
NM_001267550.2(TTN):c.3201T>C (p.Thr1067=)
|
rs876657603
|
0.00001
|
|
NM_001267550.2(TTN):c.32034C>T (p.Pro10678=)
|
rs776436912
|
0.00001
|
|
NM_001267550.2(TTN):c.32096-16T>C
|
rs2071543126
|
0.00001
|
|
NM_001267550.2(TTN):c.32160C>T (p.Phe10720=)
|
rs1020838415
|
0.00001
|
|
NM_001267550.2(TTN):c.32197+10C>T
|
rs748585597
|
0.00001
|
|
NM_001267550.2(TTN):c.32197+18_32197+19del
|
rs758242465
|
0.00001
|
|
NM_001267550.2(TTN):c.32211G>A (p.Glu10737=)
|
rs747597729
|
0.00001
|
|
NM_001267550.2(TTN):c.32311+19C>A
|
rs1232217872
|
0.00001
|
|
NM_001267550.2(TTN):c.32312-15C>T
|
rs772269455
|
0.00001
|
|
NM_001267550.2(TTN):c.32319A>G (p.Glu10773=)
|
rs2070647612
|
0.00001
|
|
NM_001267550.2(TTN):c.32470+18G>A
|
rs950504813
|
0.00001
|
|
NM_001267550.2(TTN):c.32523T>A (p.Val10841=)
|
rs879077927
|
0.00001
|
|
NM_001267550.2(TTN):c.32555-11T>A
|
rs561016877
|
0.00001
|
|
NM_001267550.2(TTN):c.32555-16C>T
|
rs373769365
|
0.00001
|
|
NM_001267550.2(TTN):c.32638+10C>A
|
rs1179818258
|
0.00001
|
|
NM_001267550.2(TTN):c.32652C>T (p.His10884=)
|
rs369173027
|
0.00001
|
|
NM_001267550.2(TTN):c.32806+15A>C
|
rs778694891
|
0.00001
|
|
NM_001267550.2(TTN):c.32820A>G (p.Arg10940=)
|
rs1213112359
|
0.00001
|
|
NM_001267550.2(TTN):c.32991T>C (p.Tyr10997=)
|
rs373166071
|
0.00001
|
|
NM_001267550.2(TTN):c.33045C>T (p.Tyr11015=)
|
rs369046627
|
0.00001
|
|
NM_001267550.2(TTN):c.33060T>C (p.Tyr11020=)
|
rs368540797
|
0.00001
|
|
NM_001267550.2(TTN):c.33111C>T (p.Ile11037=)
|
rs374779534
|
0.00001
|
|
NM_001267550.2(TTN):c.33173-5T>C
|
rs770959595
|
0.00001
|
|
NM_001267550.2(TTN):c.33177G>A (p.Leu11059=)
|
rs749033512
|
0.00001
|
|
NM_001267550.2(TTN):c.33267A>G (p.Lys11089=)
|
rs748320500
|
0.00001
|
|
NM_001267550.2(TTN):c.3327A>G (p.Pro1109=)
|
rs146977732
|
0.00001
|
|
NM_001267550.2(TTN):c.33340+20C>T
|
rs559573731
|
0.00001
|
|
NM_001267550.2(TTN):c.33366C>T (p.Val11122=)
|
rs878915517
|
0.00001
|
|
NM_001267550.2(TTN):c.33594C>T (p.Pro11198=)
|
rs1553829479
|
0.00001
|
|
NM_001267550.2(TTN):c.33665-12A>G
|
rs753263373
|
0.00001
|
|
NM_001267550.2(TTN):c.33665-16A>G
|
rs778022540
|
0.00001
|
|
NM_001267550.2(TTN):c.33743-22_33743-14del
|
rs751710802
|
0.00001
|
|
NM_001267550.2(TTN):c.33753G>A (p.Val11251=)
|
rs1366489829
|
0.00001
|
|
NM_001267550.2(TTN):c.33762A>G (p.Lys11254=)
|
rs749466171
|
0.00001
|
|
NM_001267550.2(TTN):c.33780A>G (p.Lys11260=)
|
rs1273345873
|
0.00001
|
|
NM_001267550.2(TTN):c.33792A>G (p.Pro11264=)
|
rs1306394870
|
0.00001
|
|
NM_001267550.2(TTN):c.33894G>A (p.Glu11298=)
|
rs760806455
|
0.00001
|
|
NM_001267550.2(TTN):c.33903T>C (p.Pro11301=)
|
rs746378140
|
0.00001
|
|
NM_001267550.2(TTN):c.34038T>G (p.Pro11346=)
|
rs375714279
|
0.00001
|
|
NM_001267550.2(TTN):c.34047G>A (p.Glu11349=)
|
rs749215309
|
0.00001
|
|
NM_001267550.2(TTN):c.34056A>G (p.Leu11352=)
|
rs986502331
|
0.00001
|
|
NM_001267550.2(TTN):c.34062A>G (p.Glu11354=)
|
rs886055281
|
0.00001
|
|
NM_001267550.2(TTN):c.3408C>T (p.Thr1136=)
|
rs759010767
|
0.00001
|
|
NM_001267550.2(TTN):c.34200C>T (p.Pro11400=)
|
rs750587024
|
0.00001
|
|
NM_001267550.2(TTN):c.34248A>G (p.Glu11416=)
|
rs780920687
|
0.00001
|
|
NM_001267550.2(TTN):c.34453+13C>T
|
rs771926210
|
0.00001
|
|
NM_001267550.2(TTN):c.34454-19T>C
|
rs1158066155
|
0.00001
|
|
NM_001267550.2(TTN):c.34575C>T (p.Ile11525=)
|
rs537187311
|
0.00001
|
|
NM_001267550.2(TTN):c.34581C>G (p.Leu11527=)
|
rs781699559
|
0.00001
|
|
NM_001267550.2(TTN):c.34593G>A (p.Glu11531=)
|
rs1487793268
|
0.00001
|
|
NM_001267550.2(TTN):c.34613-18A>G
|
rs372828399
|
0.00001
|
|
NM_001267550.2(TTN):c.34695G>A (p.Val11565=)
|
rs372341590
|
0.00001
|
|
NM_001267550.2(TTN):c.34734A>G (p.Val11578=)
|
rs866407525
|
0.00001
|
|
NM_001267550.2(TTN):c.34767G>A (p.Val11589=)
|
rs750168979
|
0.00001
|
|
NM_001267550.2(TTN):c.34787-16C>T
|
rs191530616
|
0.00001
|
|
NM_001267550.2(TTN):c.34787-4A>C
|
rs745818945
|
0.00001
|
|
NM_001267550.2(TTN):c.34875A>G (p.Lys11625=)
|
rs989394126
|
0.00001
|
|
NM_001267550.2(TTN):c.34920C>T (p.Pro11640=)
|
rs1302696503
|
0.00001
|
|
NM_001267550.2(TTN):c.34980A>G (p.Val11660=)
|
rs770447687
|
0.00001
|
|
NM_001267550.2(TTN):c.35217T>C (p.Ala11739=)
|
rs761811175
|
0.00001
|
|
NM_001267550.2(TTN):c.3524-18G>T
|
rs765793808
|
0.00001
|
|
NM_001267550.2(TTN):c.35301A>C (p.Pro11767=)
|
rs1167615792
|
0.00001
|
|
NM_001267550.2(TTN):c.35319G>A (p.Val11773=)
|
rs879029141
|
0.00001
|
|
NM_001267550.2(TTN):c.35517T>C (p.Ile11839=)
|
rs1352240541
|
0.00001
|
|
NM_001267550.2(TTN):c.35630-18A>G
|
rs745840024
|
0.00001
|
|
NM_001267550.2(TTN):c.3570G>A (p.Gln1190=)
|
rs2092636085
|
0.00001
|
|
NM_001267550.2(TTN):c.35784T>C (p.His11928=)
|
rs757611872
|
0.00001
|
|
NM_001267550.2(TTN):c.35876-5T>C
|
rs1388929614
|
0.00001
|
|
NM_001267550.2(TTN):c.35960-10A>G
|
rs751187310
|
0.00001
|
|
NM_001267550.2(TTN):c.36009T>C (p.Asp12003=)
|
rs1471754400
|
0.00001
|
|
NM_001267550.2(TTN):c.36044-19A>G
|
rs1429180982
|
0.00001
|
|
NM_001267550.2(TTN):c.36045G>A (p.Thr12015=)
|
rs1209026573
|
0.00001
|
|
NM_001267550.2(TTN):c.36048C>T (p.Pro12016=)
|
rs767784967
|
0.00001
|
|
NM_001267550.2(TTN):c.36069T>C (p.Ile12023=)
|
rs766345490
|
0.00001
|
|
NM_001267550.2(TTN):c.36119-17C>T
|
rs762927607
|
0.00001
|
|
NM_001267550.2(TTN):c.36183T>G (p.Pro12061=)
|
rs879036307
|
0.00001
|
|
NM_001267550.2(TTN):c.36219A>G (p.Arg12073=)
|
rs981885157
|
0.00001
|
|
NM_001267550.2(TTN):c.36291T>C (p.Ala12097=)
|
rs773466657
|
0.00001
|
|
NM_001267550.2(TTN):c.36324G>A (p.Ser12108=)
|
rs549147739
|
0.00001
|
|
NM_001267550.2(TTN):c.36354A>G (p.Pro12118=)
|
rs762147105
|
0.00001
|
|
NM_001267550.2(TTN):c.36364+13G>A
|
rs768823809
|
0.00001
|
|
NM_001267550.2(TTN):c.36393C>T (p.Arg12131=)
|
rs555029471
|
0.00001
|
|
NM_001267550.2(TTN):c.36414T>G (p.Ala12138=)
|
rs2065275692
|
0.00001
|
|
NM_001267550.2(TTN):c.36449-9T>A
|
rs755846036
|
0.00001
|
|
NM_001267550.2(TTN):c.36468A>G (p.Glu12156=)
|
rs1476672296
|
0.00001
|
|
NM_001267550.2(TTN):c.36616+9C>T
|
rs755437299
|
0.00001
|
|
NM_001267550.2(TTN):c.36621A>G (p.Pro12207=)
|
rs770052452
|
0.00001
|
|
NM_001267550.2(TTN):c.36675C>A (p.Pro12225=)
|
rs763562866
|
0.00001
|
|
NM_001267550.2(TTN):c.36864A>G (p.Pro12288=)
|
rs1330227422
|
0.00001
|
|
NM_001267550.2(TTN):c.36888T>C (p.Ala12296=)
|
rs1314345123
|
0.00001
|
|
NM_001267550.2(TTN):c.37002G>A (p.Val12334=)
|
rs1294867347
|
0.00001
|
|
NM_001267550.2(TTN):c.37202-9T>C
|
rs771757256
|
0.00001
|
|
NM_001267550.2(TTN):c.37285+7G>C
|
rs1442875884
|
0.00001
|
|
NM_001267550.2(TTN):c.3729+13G>T
|
rs2092620003
|
0.00001
|
|
NM_001267550.2(TTN):c.3729+7A>G
|
rs377161059
|
0.00001
|
|
NM_001267550.2(TTN):c.37837G>A (p.Ala12613Thr)
|
rs1378663473
|
0.00001
|
|
NM_001267550.2(TTN):c.3810T>C (p.Leu1270=)
|
rs878883624
|
0.00001
|
|
NM_001267550.2(TTN):c.38283T>C (p.Ala12761=)
|
rs1476437470
|
0.00001
|
|
NM_001267550.2(TTN):c.38454C>T (p.Pro12818=)
|
rs2063594484
|
0.00001
|
|
NM_001267550.2(TTN):c.38707+9C>T
|
rs767962796
|
0.00001
|
|
NM_001267550.2(TTN):c.38739A>G (p.Glu12913=)
|
rs759128215
|
0.00001
|
|
NM_001267550.2(TTN):c.3876A>G (p.Gly1292=)
|
rs755784209
|
0.00001
|
|
NM_001267550.2(TTN):c.38792-9T>C
|
rs760780759
|
0.00001
|
|
NM_001267550.2(TTN):c.38811A>G (p.Glu12937=)
|
rs1433184470
|
0.00001
|
|
NM_001267550.2(TTN):c.38838G>A (p.Val12946=)
|
rs1309055884
|
0.00001
|
|
NM_001267550.2(TTN):c.38979G>A (p.Glu12993=)
|
rs1462432373
|
0.00001
|
|
NM_001267550.2(TTN):c.38985T>C (p.Val12995=)
|
rs753883402
|
0.00001
|
|
NM_001267550.2(TTN):c.39033A>T (p.Pro13011=)
|
rs768321493
|
0.00001
|
|
NM_001267550.2(TTN):c.39044-14T>C
|
rs1177294449
|
0.00001
|
|
NM_001267550.2(TTN):c.39044-15C>T
|
rs749495580
|
0.00001
|
|
NM_001267550.2(TTN):c.39044-16A>G
|
rs2063227601
|
0.00001
|
|
NM_001267550.2(TTN):c.39120T>C (p.Pro13040=)
|
rs1157304666
|
0.00001
|
|
NM_001267550.2(TTN):c.39127+7G>C
|
rs981353612
|
0.00001
|
|
NM_001267550.2(TTN):c.39128-16A>G
|
rs769738352
|
0.00001
|
|
NM_001267550.2(TTN):c.39195A>G (p.Glu13065=)
|
rs1004354766
|
0.00001
|
|
NM_001267550.2(TTN):c.39211+10C>G
|
rs1264648666
|
0.00001
|
|
NM_001267550.2(TTN):c.39211+13A>T
|
rs756966122
|
0.00001
|
|
NM_001267550.2(TTN):c.39211+16G>T
|
rs753691920
|
0.00001
|
|
NM_001267550.2(TTN):c.39219G>A (p.Glu13073=)
|
rs777607934
|
0.00001
|
|
NM_001267550.2(TTN):c.39282T>C (p.Ser13094=)
|
rs773883685
|
0.00001
|
|
NM_001267550.2(TTN):c.39295+12A>G
|
rs375770526
|
0.00001
|
|
NM_001267550.2(TTN):c.39296-4A>G
|
rs368641171
|
0.00001
|
|
NM_001267550.2(TTN):c.39300C>T (p.Phe13100=)
|
rs569579388
|
0.00001
|
|
NM_001267550.2(TTN):c.39375A>G (p.Pro13125=)
|
rs566794300
|
0.00001
|
|
NM_001267550.2(TTN):c.39384C>T (p.Thr13128=)
|
rs746067865
|
0.00001
|
|
NM_001267550.2(TTN):c.39463+10A>C
|
rs1161477164
|
0.00001
|
|
NM_001267550.2(TTN):c.39464-4A>T
|
rs960737707
|
0.00001
|
|
NM_001267550.2(TTN):c.39465G>A (p.Val13155=)
|
rs886055279
|
0.00001
|
|
NM_001267550.2(TTN):c.39468C>T (p.Pro13156=)
|
rs1367382367
|
0.00001
|
|
NM_001267550.2(TTN):c.39548-9T>C
|
rs1437594941
|
0.00001
|
|
NM_001267550.2(TTN):c.39588A>C (p.Val13196=)
|
rs754072702
|
0.00001
|
|
NM_001267550.2(TTN):c.39597C>A (p.Pro13199=)
|
rs776088323
|
0.00001
|
|
NM_001267550.2(TTN):c.3960A>G (p.Pro1320=)
|
rs1258234358
|
0.00001
|
|
NM_001267550.2(TTN):c.3963+8A>G
|
rs746377261
|
0.00001
|
|
NM_001267550.2(TTN):c.3964-20A>G
|
rs1351703825
|
0.00001
|
|
NM_001267550.2(TTN):c.39651C>T (p.Val13217=)
|
rs367566815
|
0.00001
|
|
NM_001267550.2(TTN):c.39709+7G>A
|
rs750763722
|
0.00001
|
|
NM_001267550.2(TTN):c.39710-15C>T
|
rs1057522986
|
0.00001
|
|
NM_001267550.2(TTN):c.39714T>C (p.Tyr13238=)
|
rs755047442
|
0.00001
|
|
NM_001267550.2(TTN):c.39818-18A>G
|
rs2062665643
|
0.00001
|
|
NM_001267550.2(TTN):c.39818-4C>T
|
rs754585674
|
0.00001
|
|
NM_001267550.2(TTN):c.3987G>A (p.Lys1329=)
|
rs1554012145
|
0.00001
|
|
NM_001267550.2(TTN):c.39919G>T (p.Val13307Phe)
|
rs553280930
|
0.00001
|
|
NM_001267550.2(TTN):c.39936C>T (p.Val13312=)
|
rs1259485774
|
0.00001
|
|
NM_001267550.2(TTN):c.39973+14C>T
|
rs995670788
|
0.00001
|
|
NM_001267550.2(TTN):c.39974-10A>G
|
rs2062544616
|
0.00001
|
|
NM_001267550.2(TTN):c.40057+18A>G
|
rs991784419
|
0.00001
|
|
NM_001267550.2(TTN):c.40083C>T (p.Ile13361=)
|
rs1039448666
|
0.00001
|
|
NM_001267550.2(TTN):c.40098G>A (p.Val13366=)
|
rs1199008054
|
0.00001
|
|
NM_001267550.2(TTN):c.40141+20A>T
|
rs1467474717
|
0.00001
|
|
NM_001267550.2(TTN):c.40248A>G (p.Lys13416=)
|
rs756681989
|
0.00001
|
|
NM_001267550.2(TTN):c.40260C>T (p.Pro13420=)
|
rs968375522
|
0.00001
|
|
NM_001267550.2(TTN):c.40266T>C (p.Pro13422=)
|
rs914232072
|
0.00001
|
|
NM_001267550.2(TTN):c.40298-20C>A
|
rs762315483
|
0.00001
|
|
NM_001267550.2(TTN):c.40298-9T>C
|
rs771273171
|
0.00001
|
|
NM_001267550.2(TTN):c.40409-14C>T
|
rs764664868
|
0.00001
|
|
NM_001267550.2(TTN):c.40558+13T>C
|
rs1277099678
|
0.00001
|
|
NM_001267550.2(TTN):c.40572A>G (p.Arg13524=)
|
rs1360957975
|
0.00001
|
|
NM_001267550.2(TTN):c.40701G>A (p.Arg13567=)
|
rs750761966
|
0.00001
|
|
NM_001267550.2(TTN):c.40719A>C (p.Thr13573=)
|
rs765647260
|
0.00001
|
|
NM_001267550.2(TTN):c.40723+14G>A
|
rs1311706210
|
0.00001
|
|
NM_001267550.2(TTN):c.40767G>A (p.Pro13589=)
|
rs533071976
|
0.00001
|
|
NM_001267550.2(TTN):c.40779C>T (p.Pro13593=)
|
rs751103309
|
0.00001
|
|
NM_001267550.2(TTN):c.40800C>A (p.Ile13600=)
|
rs879111430
|
0.00001
|
|
NM_001267550.2(TTN):c.40836C>T (p.Ile13612=)
|
rs1178914442
|
0.00001
|
|
NM_001267550.2(TTN):c.40877-7A>G
|
rs727505201
|
0.00001
|
|
NM_001267550.2(TTN):c.40927+11T>C
|
rs373086667
|
0.00001
|
|
NM_001267550.2(TTN):c.40927+12T>C
|
rs753719588
|
0.00001
|
|
NM_001267550.2(TTN):c.40928-15T>C
|
rs766374526
|
0.00001
|
|
NM_001267550.2(TTN):c.40928-7G>A
|
rs1337688234
|
0.00001
|
|
NM_001267550.2(TTN):c.40962C>T (p.Ala13654=)
|
rs917199946
|
0.00001
|
|
NM_001267550.2(TTN):c.40971A>G (p.Arg13657=)
|
rs749200605
|
0.00001
|
|
NM_001267550.2(TTN):c.40983A>G (p.Pro13661=)
|
rs1057338570
|
0.00001
|
|
NM_001267550.2(TTN):c.4098C>T (p.Ala1366=)
|
rs760223250
|
0.00001
|
|
NM_001267550.2(TTN):c.41007T>C (p.Pro13669=)
|
rs762979127
|
0.00001
|
|
NM_001267550.2(TTN):c.41049G>C (p.Leu13683=)
|
rs267599052
|
0.00001
|
|
NM_001267550.2(TTN):c.41097C>T (p.Phe13699=)
|
rs377131448
|
0.00001
|
|
NM_001267550.2(TTN):c.4110A>G (p.Lys1370=)
|
rs1554011877
|
0.00001
|
|
NM_001267550.2(TTN):c.41229G>A (p.Leu13743=)
|
rs1022741837
|
0.00001
|
|
NM_001267550.2(TTN):c.4131G>A (p.Gly1377=)
|
rs777874876
|
0.00001
|
|
NM_001267550.2(TTN):c.41329+16C>G
|
rs1262293420
|
0.00001
|
|
NM_001267550.2(TTN):c.41412A>G (p.Leu13804=)
|
rs72650079
|
0.00001
|
|
NM_001267550.2(TTN):c.41490C>T (p.Val13830=)
|
rs397517564
|
0.00001
|
|
NM_001267550.2(TTN):c.41509C>T (p.Leu13837=)
|
rs372558001
|
0.00001
|
|
NM_001267550.2(TTN):c.41514C>A (p.Thr13838=)
|
rs369348617
|
0.00001
|
|
NM_001267550.2(TTN):c.41568C>T (p.Asn13856=)
|
rs559906667
|
0.00001
|
|
NM_001267550.2(TTN):c.41571C>A (p.Ala13857=)
|
rs1357782277
|
0.00001
|
|
NM_001267550.2(TTN):c.41609-6A>G
|
rs754210075
|
0.00001
|
|
NM_001267550.2(TTN):c.41628G>A (p.Leu13876=)
|
rs1447734949
|
0.00001
|
|
NM_001267550.2(TTN):c.4170G>A (p.Pro1390=)
|
rs369005241
|
0.00001
|
|
NM_001267550.2(TTN):c.41778T>C (p.Asp13926=)
|
rs766397292
|
0.00001
|
|
NM_001267550.2(TTN):c.41810C>T (p.Ala13937Val)
|
rs545806408
|
0.00001
|
|
NM_001267550.2(TTN):c.41817A>G (p.Pro13939=)
|
rs532478704
|
0.00001
|
|
NM_001267550.2(TTN):c.41884+14C>A
|
rs376264278
|
0.00001
|
|
NM_001267550.2(TTN):c.41884+8A>T
|
rs2060322472
|
0.00001
|
|
NM_001267550.2(TTN):c.4188A>G (p.Leu1396=)
|
rs192329423
|
0.00001
|
|
NM_001267550.2(TTN):c.4197G>C (p.Val1399=)
|
rs770601569
|
0.00001
|
|
NM_001267550.2(TTN):c.42025-19T>C
|
rs372105151
|
0.00001
|
|
NM_001267550.2(TTN):c.42056G>A (p.Arg14019His)
|
rs374683153
|
0.00001
|
|
NM_001267550.2(TTN):c.4209-16T>C
|
rs1285849113
|
0.00001
|
|
NM_001267550.2(TTN):c.4209-17G>A
|
rs373298221
|
0.00001
|
|
NM_001267550.2(TTN):c.4209-7T>A
|
rs1019967674
|
0.00001
|
|
NM_001267550.2(TTN):c.42108C>T (p.Tyr14036=)
|
rs1311474144
|
0.00001
|
|
NM_001267550.2(TTN):c.4212T>A (p.Ser1404=)
|
rs879245687
|
0.00001
|
|
NM_001267550.2(TTN):c.42151+20T>C
|
rs529796220
|
0.00001
|
|
NM_001267550.2(TTN):c.42177C>T (p.Pro14059=)
|
rs2060189688
|
0.00001
|
|
NM_001267550.2(TTN):c.42270T>C (p.Asp14090=)
|
rs753099769
|
0.00001
|
|
NM_001267550.2(TTN):c.42330T>C (p.Val14110=)
|
rs779075153
|
0.00001
|
|
NM_001267550.2(TTN):c.42416-8C>T
|
rs756921395
|
0.00001
|
|
NM_001267550.2(TTN):c.42486T>C (p.Val14162=)
|
rs763151045
|
0.00001
|
|
NM_001267550.2(TTN):c.42552C>T (p.Ser14184=)
|
rs373503028
|
0.00001
|
|
NM_001267550.2(TTN):c.42561A>C (p.Val14187=)
|
rs1057521315
|
0.00001
|
|
NM_001267550.2(TTN):c.42612A>G (p.Thr14204=)
|
rs374805748
|
0.00001
|
|
NM_001267550.2(TTN):c.42618T>C (p.Asp14206=)
|
rs775862579
|
0.00001
|
|
NM_001267550.2(TTN):c.42682+11C>A
|
rs908586161
|
0.00001
|
|
NM_001267550.2(TTN):c.42684G>A (p.Glu14228=)
|
rs975916529
|
0.00001
|
|
NM_001267550.2(TTN):c.42750G>A (p.Leu14250=)
|
rs1273953637
|
0.00001
|
|
NM_001267550.2(TTN):c.42771T>C (p.Asp14257=)
|
rs903523837
|
0.00001
|
|
NM_001267550.2(TTN):c.42807T>C (p.Ile14269=)
|
rs778681091
|
0.00001
|
|
NM_001267550.2(TTN):c.42900G>A (p.Val14300=)
|
rs753676165
|
0.00001
|
|
NM_001267550.2(TTN):c.42918C>T (p.Asp14306=)
|
rs537375897
|
0.00001
|
|
NM_001267550.2(TTN):c.42946+13A>C
|
rs889524370
|
0.00001
|
|
NM_001267550.2(TTN):c.42973C>T (p.Leu14325=)
|
rs775242938
|
0.00001
|
|
NM_001267550.2(TTN):c.42C>T (p.Ser14=)
|
rs925948430
|
0.00001
|
|
NM_001267550.2(TTN):c.43086+7C>G
|
rs1378945842
|
0.00001
|
|
NM_001267550.2(TTN):c.43087-15C>G
|
rs1409692632
|
0.00001
|
|
NM_001267550.2(TTN):c.43087-20C>T
|
rs1371436719
|
0.00001
|
|
NM_001267550.2(TTN):c.4314C>T (p.Ser1438=)
|
rs764817754
|
0.00001
|
|
NM_001267550.2(TTN):c.43185C>A (p.Ala14395=)
|
rs1057519234
|
0.00001
|
|
NM_001267550.2(TTN):c.43214-17C>T
|
rs1055328840
|
0.00001
|
|
NM_001267550.2(TTN):c.43233C>T (p.Ile14411=)
|
rs1167964024
|
0.00001
|
|
NM_001267550.2(TTN):c.43281T>C (p.Phe14427=)
|
rs368161055
|
0.00001
|
|
NM_001267550.2(TTN):c.43305C>G (p.Pro14435=)
|
rs1001947652
|
0.00001
|
|
NM_001267550.2(TTN):c.43374T>C (p.Asp14458=)
|
rs1407605671
|
0.00001
|
|
NM_001267550.2(TTN):c.43480+8G>A
|
rs1267914380
|
0.00001
|
|
NM_001267550.2(TTN):c.43481-6T>G
|
rs779911447
|
0.00001
|
|
NM_001267550.2(TTN):c.43521T>C (p.Thr14507=)
|
rs762655778
|
0.00001
|
|
NM_001267550.2(TTN):c.43623G>A (p.Ser14541=)
|
rs369434563
|
0.00001
|
|
NM_001267550.2(TTN):c.43704A>G (p.Val14568=)
|
rs368783829
|
0.00001
|
|
NM_001267550.2(TTN):c.43748-7C>T
|
rs771927358
|
0.00001
|
|
NM_001267550.2(TTN):c.43755C>T (p.Asp14585=)
|
rs759486529
|
0.00001
|
|
NM_001267550.2(TTN):c.43813C>T (p.Leu14605=)
|
rs1251970273
|
0.00001
|
|
NM_001267550.2(TTN):c.43836A>G (p.Ala14612=)
|
rs755492644
|
0.00001
|
|
NM_001267550.2(TTN):c.43861G>A (p.Asp14621Asn)
|
rs374032491
|
0.00001
|
|
NM_001267550.2(TTN):c.43866G>A (p.Gly14622=)
|
rs988374698
|
0.00001
|
|
NM_001267550.2(TTN):c.43869G>A (p.Lys14623=)
|
rs957181917
|
0.00001
|
|
NM_001267550.2(TTN):c.44076A>T (p.Ala14692=)
|
rs535734890
|
0.00001
|
|
NM_001267550.2(TTN):c.44112C>T (p.His14704=)
|
rs754693395
|
0.00001
|
|
NM_001267550.2(TTN):c.44281+14A>G
|
rs745533972
|
0.00001
|
|
NM_001267550.2(TTN):c.44284C>A (p.Arg14762=)
|
rs770767998
|
0.00001
|
|
NM_001267550.2(TTN):c.44322C>A (p.Thr14774=)
|
rs573695669
|
0.00001
|
|
NM_001267550.2(TTN):c.44376C>T (p.Ile14792=)
|
rs564820606
|
0.00001
|
|
NM_001267550.2(TTN):c.44424+12G>A
|
rs764849555
|
0.00001
|
|
NM_001267550.2(TTN):c.44425-7del
|
rs768236919
|
0.00001
|
|
NM_001267550.2(TTN):c.44469G>A (p.Arg14823=)
|
rs267599051
|
0.00001
|
|
NM_001267550.2(TTN):c.44511A>G (p.Ala14837=)
|
rs1205699868
|
0.00001
|
|
NM_001267550.2(TTN):c.4452T>C (p.Pro1484=)
|
rs727503695
|
0.00001
|
|
NM_001267550.2(TTN):c.44599G>A (p.Gly14867Arg)
|
rs144848584
|
0.00001
|
|
NM_001267550.2(TTN):c.44667G>C (p.Gly14889=)
|
rs746287950
|
0.00001
|
|
NM_001267550.2(TTN):c.44676C>A (p.Ile14892=)
|
rs373500703
|
0.00001
|
|
NM_001267550.2(TTN):c.44679C>T (p.Leu14893=)
|
rs1438608061
|
0.00001
|
|
NM_001267550.2(TTN):c.44706T>C (p.Ala14902=)
|
rs766958603
|
0.00001
|
|
NM_001267550.2(TTN):c.44775T>C (p.Asp14925=)
|
rs879210476
|
0.00001
|
|
NM_001267550.2(TTN):c.44778T>A (p.Ala14926=)
|
rs369800238
|
0.00001
|
|
NM_001267550.2(TTN):c.4481-17T>C
|
rs1298684196
|
0.00001
|
|
NM_001267550.2(TTN):c.44811C>T (p.Val14937=)
|
rs753145038
|
0.00001
|
|
NM_001267550.2(TTN):c.44815+7A>G
|
rs758417150
|
0.00001
|
|
NM_001267550.2(TTN):c.44816-7C>T
|
rs539123756
|
0.00001
|
|
NM_001267550.2(TTN):c.44833T>C (p.Leu14945=)
|
rs746441554
|
0.00001
|
|
NM_001267550.2(TTN):c.44847C>T (p.Thr14949=)
|
rs374213553
|
0.00001
|
|
NM_001267550.2(TTN):c.44914-19C>A
|
rs771681725
|
0.00001
|
|
NM_001267550.2(TTN):c.44961T>C (p.Tyr14987=)
|
rs977583042
|
0.00001
|
|
NM_001267550.2(TTN):c.45198G>A (p.Gly15066=)
|
rs547564837
|
0.00001
|
|
NM_001267550.2(TTN):c.45327C>T (p.Thr15109=)
|
rs376143828
|
0.00001
|
|
NM_001267550.2(TTN):c.45350-11T>C
|
rs940979956
|
0.00001
|
|
NM_001267550.2(TTN):c.45546A>G (p.Thr15182=)
|
rs1553717666
|
0.00001
|
|
NM_001267550.2(TTN):c.45582G>A (p.Gly15194=)
|
rs1576555318
|
0.00001
|
|
NM_001267550.2(TTN):c.45585C>T (p.Ala15195=)
|
rs780415755
|
0.00001
|
|
NM_001267550.2(TTN):c.45588C>A (p.Ala15196=)
|
rs2058208982
|
0.00001
|
|
NM_001267550.2(TTN):c.45616+16C>T
|
rs556605702
|
0.00001
|
|
NM_001267550.2(TTN):c.45617-10T>C
|
rs1210014059
|
0.00001
|
|
NM_001267550.2(TTN):c.45630C>T (p.Ile15210=)
|
rs534018757
|
0.00001
|
|
NM_001267550.2(TTN):c.45759C>T (p.Tyr15253=)
|
rs760747130
|
0.00001
|
|
NM_001267550.2(TTN):c.45786C>T (p.Tyr15262=)
|
rs532009022
|
0.00001
|
|
NM_001267550.2(TTN):c.45831T>C (p.Tyr15277=)
|
rs369117788
|
0.00001
|
|
NM_001267550.2(TTN):c.45945G>A (p.Glu15315=)
|
rs774122600
|
0.00001
|
|
NM_001267550.2(TTN):c.45993A>T (p.Thr15331=)
|
rs749043725
|
0.00001
|
|
NM_001267550.2(TTN):c.45T>C (p.Val15=)
|
rs371454228
|
0.00001
|
|
NM_001267550.2(TTN):c.46134T>C (p.Asp15378=)
|
rs754636426
|
0.00001
|
|
NM_001267550.2(TTN):c.46146T>C (p.Ala15382=)
|
rs762544602
|
0.00001
|
|
NM_001267550.2(TTN):c.4617T>G (p.Ser1539=)
|
rs2092352736
|
0.00001
|
|
NM_001267550.2(TTN):c.46218T>C (p.Asp15406=)
|
rs757897449
|
0.00001
|
|
NM_001267550.2(TTN):c.46263A>T (p.Val15421=)
|
rs1348609321
|
0.00001
|
|
NM_001267550.2(TTN):c.46353T>C (p.Asp15451=)
|
rs373160538
|
0.00001
|
|
NM_001267550.2(TTN):c.46399A>C (p.Arg15467=)
|
rs1213528986
|
0.00001
|
|
NM_001267550.2(TTN):c.4641G>T (p.Val1547=)
|
rs1012929202
|
0.00001
|
|
NM_001267550.2(TTN):c.4645+19A>G
|
rs773772445
|
0.00001
|
|
NM_001267550.2(TTN):c.46620T>C (p.Asp15540=)
|
rs770539716
|
0.00001
|
|
NM_001267550.2(TTN):c.46677A>G (p.Arg15559=)
|
rs1057522659
|
0.00001
|
|
NM_001267550.2(TTN):c.46697-19A>G
|
rs771838313
|
0.00001
|
|
NM_001267550.2(TTN):c.46716A>G (p.Thr15572=)
|
rs756209105
|
0.00001
|
|
NM_001267550.2(TTN):c.46746C>A (p.Gly15582=)
|
rs759938870
|
0.00001
|
|
NM_001267550.2(TTN):c.46782C>T (p.Tyr15594=)
|
rs397517587
|
0.00001
|
|
NM_001267550.2(TTN):c.46806T>C (p.Phe15602=)
|
rs770792191
|
0.00001
|
|
NM_001267550.2(TTN):c.46899G>A (p.Gly15633=)
|
rs727504195
|
0.00001
|
|
NM_001267550.2(TTN):c.46953T>C (p.Asn15651=)
|
rs1559852611
|
0.00001
|
|
NM_001267550.2(TTN):c.46967-15A>T
|
rs540864875
|
0.00001
|
|
NM_001267550.2(TTN):c.47028T>C (p.Leu15676=)
|
rs1450143776
|
0.00001
|
|
NM_001267550.2(TTN):c.47079T>G (p.Val15693=)
|
rs1367055779
|
0.00001
|
|
NM_001267550.2(TTN):c.47269+10T>G
|
rs1060503966
|
0.00001
|
|
NM_001267550.2(TTN):c.47334A>G (p.Thr15778=)
|
rs985120825
|
0.00001
|
|
NM_001267550.2(TTN):c.4740G>A (p.Thr1580=)
|
rs765087240
|
0.00001
|
|
NM_001267550.2(TTN):c.47430T>C (p.Thr15810=)
|
rs373878153
|
0.00001
|
|
NM_001267550.2(TTN):c.47448G>A (p.Leu15816=)
|
rs878891961
|
0.00001
|
|
NM_001267550.2(TTN):c.474C>G (p.Leu158=)
|
rs149574119
|
0.00001
|
|
NM_001267550.2(TTN):c.47553C>T (p.Val15851=)
|
rs1207097069
|
0.00001
|
|
NM_001267550.2(TTN):c.47748A>G (p.Glu15916=)
|
rs760483525
|
0.00001
|
|
NM_001267550.2(TTN):c.47761-5C>T
|
rs749822598
|
0.00001
|
|
NM_001267550.2(TTN):c.47856C>A (p.Leu15952=)
|
rs1362019752
|
0.00001
|
|
NM_001267550.2(TTN):c.47865C>T (p.Asp15955=)
|
rs773495187
|
0.00001
|
|
NM_001267550.2(TTN):c.47943G>A (p.Thr15981=)
|
rs751428690
|
0.00001
|
|
NM_001267550.2(TTN):c.47970A>G (p.Pro15990=)
|
rs762054306
|
0.00001
|
|
NM_001267550.2(TTN):c.48000T>C (p.Asp16000=)
|
rs760906090
|
0.00001
|
|
NM_001267550.2(TTN):c.48054C>T (p.Ala16018=)
|
rs779940754
|
0.00001
|
|
NM_001267550.2(TTN):c.48081T>C (p.Arg16027=)
|
rs754088360
|
0.00001
|
|
NM_001267550.2(TTN):c.48111A>G (p.Leu16037=)
|
rs377491064
|
0.00001
|
|
NM_001267550.2(TTN):c.48143T>C (p.Ile16048Thr)
|
rs749678590
|
0.00001
|
|
NM_001267550.2(TTN):c.48160+7A>G
|
rs2057414181
|
0.00001
|
|
NM_001267550.2(TTN):c.48161-19T>C
|
rs1476549808
|
0.00001
|
|
NM_001267550.2(TTN):c.48246T>C (p.Asp16082=)
|
rs771542149
|
0.00001
|
|
NM_001267550.2(TTN):c.48312+10G>C
|
rs372193364
|
0.00001
|
|
NM_001267550.2(TTN):c.48312+14A>T
|
rs2057365299
|
0.00001
|
|
NM_001267550.2(TTN):c.48411T>C (p.Pro16137=)
|
rs1306044978
|
0.00001
|
|
NM_001267550.2(TTN):c.48461-13C>T
|
rs774563759
|
0.00001
|
|
NM_001267550.2(TTN):c.48461-4G>A
|
rs749445039
|
0.00001
|
|
NM_001267550.2(TTN):c.48543T>C (p.Asn16181=)
|
rs564454549
|
0.00001
|
|
NM_001267550.2(TTN):c.48639-19C>T
|
rs772336822
|
0.00001
|
|
NM_001267550.2(TTN):c.48760+11T>C
|
rs759878678
|
0.00001
|
|
NM_001267550.2(TTN):c.48761-14C>T
|
rs374241606
|
0.00001
|
|
NM_001267550.2(TTN):c.48768A>G (p.Pro16256=)
|
rs779245098
|
0.00001
|
|
NM_001267550.2(TTN):c.48783T>C (p.Asp16261=)
|
rs574915586
|
0.00001
|
|
NM_001267550.2(TTN):c.48849C>T (p.Thr16283=)
|
rs768147224
|
0.00001
|
|
NM_001267550.2(TTN):c.48879A>T (p.Thr16293=)
|
rs1553703542
|
0.00001
|
|
NM_001267550.2(TTN):c.4890G>A (p.Ala1630=)
|
rs752145538
|
0.00001
|
|
NM_001267550.2(TTN):c.48933T>C (p.Pro16311=)
|
rs776249400
|
0.00001
|
|
NM_001267550.2(TTN):c.4893T>C (p.Thr1631=)
|
rs761409910
|
0.00001
|
|
NM_001267550.2(TTN):c.48960T>C (p.Asp16320=)
|
rs1057523898
|
0.00001
|
|
NM_001267550.2(TTN):c.49049-20A>G
|
rs1486812338
|
0.00001
|
|
NM_001267550.2(TTN):c.49119C>T (p.Asn16373=)
|
rs1576457751
|
0.00001
|
|
NM_001267550.2(TTN):c.49137T>G (p.Gly16379=)
|
rs372012299
|
0.00001
|
|
NM_001267550.2(TTN):c.49191G>A (p.Val16397=)
|
rs1248893203
|
0.00001
|
|
NM_001267550.2(TTN):c.49212C>T (p.Thr16404=)
|
rs749784602
|
0.00001
|
|
NM_001267550.2(TTN):c.49266C>A (p.Ile16422=)
|
rs1375657505
|
0.00001
|
|
NM_001267550.2(TTN):c.49287C>T (p.Asn16429=)
|
rs763809932
|
0.00001
|
|
NM_001267550.2(TTN):c.49346-20C>T
|
rs1338669169
|
0.00001
|
|
NM_001267550.2(TTN):c.49347T>C (p.Asp16449=)
|
rs774444882
|
0.00001
|
|
NM_001267550.2(TTN):c.49449A>G (p.Thr16483=)
|
rs769061694
|
0.00001
|
|
NM_001267550.2(TTN):c.49532+20C>G
|
rs1373933239
|
0.00001
|
|
NM_001267550.2(TTN):c.49542T>A (p.Gly16514=)
|
rs768442614
|
0.00001
|
|
NM_001267550.2(TTN):c.49593T>C (p.Ala16531=)
|
rs764256594
|
0.00001
|
|
NM_001267550.2(TTN):c.49648+20T>G
|
rs768229581
|
0.00001
|
|
NM_001267550.2(TTN):c.49656A>G (p.Pro16552=)
|
rs982034509
|
0.00001
|
|
NM_001267550.2(TTN):c.49708T>C (p.Leu16570=)
|
rs781276769
|
0.00001
|
|
NM_001267550.2(TTN):c.49734T>C (p.Asp16578=)
|
rs753421545
|
0.00001
|
|
NM_001267550.2(TTN):c.49776G>A (p.Lys16592=)
|
rs770835197
|
0.00001
|
|
NM_001267550.2(TTN):c.49806G>A (p.Ala16602=)
|
rs1373317697
|
0.00001
|
|
NM_001267550.2(TTN):c.49827G>A (p.Gln16609=)
|
rs780597566
|
0.00001
|
|
NM_001267550.2(TTN):c.49890G>A (p.Lys16630=)
|
rs1442542064
|
0.00001
|
|
NM_001267550.2(TTN):c.4995G>A (p.Gly1665=)
|
rs755324231
|
0.00001
|
|
NM_001267550.2(TTN):c.49992A>G (p.Thr16664=)
|
rs752928812
|
0.00001
|
|
NM_001267550.2(TTN):c.50076C>T (p.Asp16692=)
|
rs397517598
|
0.00001
|
|
NM_001267550.2(TTN):c.50154C>A (p.Gly16718=)
|
rs894625126
|
0.00001
|
|
NM_001267550.2(TTN):c.50205C>T (p.Asp16735=)
|
rs1185567072
|
0.00001
|
|
NM_001267550.2(TTN):c.5022C>G (p.Ala1674=)
|
rs753444772
|
0.00001
|
|
NM_001267550.2(TTN):c.50244C>T (p.Thr16748=)
|
rs778337707
|
0.00001
|
|
NM_001267550.2(TTN):c.50248+11G>C
|
rs770433212
|
0.00001
|
|
NM_001267550.2(TTN):c.50248+12C>T
|
rs749209819
|
0.00001
|
|
NM_001267550.2(TTN):c.50268C>T (p.Tyr16756=)
|
rs748836778
|
0.00001
|
|
NM_001267550.2(TTN):c.50310A>C (p.Leu16770=)
|
rs909355106
|
0.00001
|
|
NM_001267550.2(TTN):c.50354+10G>T
|
rs772647911
|
0.00001
|
|
NM_001267550.2(TTN):c.50430C>T (p.Asn16810=)
|
rs878854313
|
0.00001
|
|
NM_001267550.2(TTN):c.50511A>T (p.Pro16837=)
|
rs574553890
|
0.00001
|
|
NM_001267550.2(TTN):c.5061G>A (p.Glu1687=)
|
rs774128771
|
0.00001
|
|
NM_001267550.2(TTN):c.50637T>C (p.Asn16879=)
|
rs1311231359
|
0.00001
|
|
NM_001267550.2(TTN):c.50642G>C (p.Gly16881Ala)
|
rs201302681
|
0.00001
|
|
NM_001267550.2(TTN):c.50857+14G>T
|
rs1176781289
|
0.00001
|
|
NM_001267550.2(TTN):c.50865A>T (p.Pro16955=)
|
rs754038742
|
0.00001
|
|
NM_001267550.2(TTN):c.50928T>C (p.Val16976=)
|
rs746690194
|
0.00001
|
|
NM_001267550.2(TTN):c.50979A>G (p.Lys16993=)
|
rs913914694
|
0.00001
|
|
NM_001267550.2(TTN):c.51015T>C (p.Asn17005=)
|
rs752077995
|
0.00001
|
|
NM_001267550.2(TTN):c.51018T>C (p.Asp17006=)
|
rs1163818093
|
0.00001
|
|
NM_001267550.2(TTN):c.51099C>T (p.Leu17033=)
|
rs755994820
|
0.00001
|
|
NM_001267550.2(TTN):c.5109A>G (p.Pro1703=)
|
rs781287476
|
0.00001
|
|
NM_001267550.2(TTN):c.5115C>T (p.Phe1705=)
|
rs375828531
|
0.00001
|
|
NM_001267550.2(TTN):c.51231C>A (p.Thr17077=)
|
rs779518431
|
0.00001
|
|
NM_001267550.2(TTN):c.51297T>C (p.Ser17099=)
|
rs1237576280
|
0.00001
|
|
NM_001267550.2(TTN):c.51414A>G (p.Pro17138=)
|
rs376459830
|
0.00001
|
|
NM_001267550.2(TTN):c.51417C>T (p.Val17139=)
|
rs749889101
|
0.00001
|
|
NM_001267550.2(TTN):c.51477T>C (p.Pro17159=)
|
rs759802048
|
0.00001
|
|
NM_001267550.2(TTN):c.51527G>C (p.Gly17176Ala)
|
rs768961892
|
0.00001
|
|
NM_001267550.2(TTN):c.51603G>C (p.Leu17201=)
|
rs2055879297
|
0.00001
|
|
NM_001267550.2(TTN):c.51621T>C (p.Tyr17207=)
|
rs773209033
|
0.00001
|
|
NM_001267550.2(TTN):c.51672A>G (p.Ala17224=)
|
rs755746120
|
0.00001
|
|
NM_001267550.2(TTN):c.516G>A (p.Gly172=)
|
rs747789397
|
0.00001
|
|
NM_001267550.2(TTN):c.51756T>C (p.Ile17252=)
|
rs1409424419
|
0.00001
|
|
NM_001267550.2(TTN):c.51906G>A (p.Arg17302=)
|
rs771939605
|
0.00001
|
|
NM_001267550.2(TTN):c.51933A>G (p.Glu17311=)
|
rs770822382
|
0.00001
|
|
NM_001267550.2(TTN):c.5199G>A (p.Thr1733=)
|
rs1244676379
|
0.00001
|
|
NM_001267550.2(TTN):c.52005C>T (p.Arg17335=)
|
rs940135679
|
0.00001
|
|
NM_001267550.2(TTN):c.52026T>C (p.Pro17342=)
|
rs368435750
|
0.00001
|
|
NM_001267550.2(TTN):c.52032T>C (p.His17344=)
|
rs374254751
|
0.00001
|
|
NM_001267550.2(TTN):c.52098G>A (p.Val17366=)
|
rs727503617
|
0.00001
|
|
NM_001267550.2(TTN):c.52103-17C>T
|
rs751011038
|
0.00001
|
|
NM_001267550.2(TTN):c.52144A>G (p.Arg17382Gly)
|
rs397517607
|
0.00001
|
|
NM_001267550.2(TTN):c.52281T>C (p.His17427=)
|
rs760939368
|
0.00001
|
|
NM_001267550.2(TTN):c.52323C>T (p.Tyr17441=)
|
rs749855424
|
0.00001
|
|
NM_001267550.2(TTN):c.52338A>G (p.Arg17446=)
|
rs779531031
|
0.00001
|
|
NM_001267550.2(TTN):c.52374T>C (p.Val17458=)
|
rs752571545
|
0.00001
|
|
NM_001267550.2(TTN):c.52386T>C (p.Leu17462=)
|
rs369139618
|
0.00001
|
|
NM_001267550.2(TTN):c.52405+7T>C
|
rs374157382
|
0.00001
|
|
NM_001267550.2(TTN):c.52437G>A (p.Val17479=)
|
rs1576375263
|
0.00001
|
|
NM_001267550.2(TTN):c.52491T>C (p.Asn17497=)
|
rs745494874
|
0.00001
|
|
NM_001267550.2(TTN):c.52596T>C (p.Asp17532=)
|
rs761084280
|
0.00001
|
|
NM_001267550.2(TTN):c.5268A>G (p.Glu1756=)
|
rs775999739
|
0.00001
|
|
NM_001267550.2(TTN):c.52716G>A (p.Gly17572=)
|
rs369877063
|
0.00001
|
|
NM_001267550.2(TTN):c.52854C>A (p.Arg17618=)
|
rs899709298
|
0.00001
|
|
NM_001267550.2(TTN):c.52887C>T (p.Tyr17629=)
|
rs940211628
|
0.00001
|
|
NM_001267550.2(TTN):c.52905A>G (p.Arg17635=)
|
rs372908128
|
0.00001
|
|
NM_001267550.2(TTN):c.52920C>T (p.Tyr17640=)
|
rs1553687219
|
0.00001
|
|
NM_001267550.2(TTN):c.52947C>T (p.Ala17649=)
|
rs766991039
|
0.00001
|
|
NM_001267550.2(TTN):c.52948G>A (p.Ala17650Thr)
|
rs535008556
|
0.00001
|
|
NM_001267550.2(TTN):c.52950A>G (p.Ala17650=)
|
rs774191524
|
0.00001
|
|
NM_001267550.2(TTN):c.53002+9C>T
|
rs374671774
|
0.00001
|
|
NM_001267550.2(TTN):c.53127A>G (p.Glu17709=)
|
rs2055198035
|
0.00001
|
|
NM_001267550.2(TTN):c.53154T>C (p.Val17718=)
|
rs990097785
|
0.00001
|
|
NM_001267550.2(TTN):c.53193C>T (p.Ile17731=)
|
rs1375846477
|
0.00001
|
|
NM_001267550.2(TTN):c.5319T>C (p.Gly1773=)
|
rs147314442
|
0.00001
|
|
NM_001267550.2(TTN):c.53229G>A (p.Val17743=)
|
rs376469717
|
0.00001
|
|
NM_001267550.2(TTN):c.53288-13G>T
|
rs762229186
|
0.00001
|
|
NM_001267550.2(TTN):c.53415T>C (p.Asp17805=)
|
rs1436348536
|
0.00001
|
|
NM_001267550.2(TTN):c.53448G>A (p.Glu17816=)
|
rs750500146
|
0.00001
|
|
NM_001267550.2(TTN):c.53481G>C (p.Leu17827=)
|
rs754240893
|
0.00001
|
|
NM_001267550.2(TTN):c.53493A>G (p.Gln17831=)
|
rs1259584072
|
0.00001
|
|
NM_001267550.2(TTN):c.53571T>A (p.Val17857=)
|
rs2055057176
|
0.00001
|
|
NM_001267550.2(TTN):c.53581+19T>C
|
rs764528095
|
0.00001
|
|
NM_001267550.2(TTN):c.53625A>G (p.Thr17875=)
|
rs373277508
|
0.00001
|
|
NM_001267550.2(TTN):c.53643T>G (p.Leu17881=)
|
rs746078643
|
0.00001
|
|
NM_001267550.2(TTN):c.53757C>T (p.Thr17919=)
|
rs989282574
|
0.00001
|
|
NM_001267550.2(TTN):c.53799T>C (p.Tyr17933=)
|
rs1264546013
|
0.00001
|
|
NM_001267550.2(TTN):c.53882-5T>G
|
rs1369648014
|
0.00001
|
|
NM_001267550.2(TTN):c.54114G>A (p.Glu18038=)
|
rs750171692
|
0.00001
|
|
NM_001267550.2(TTN):c.54132A>G (p.Thr18044=)
|
rs764321069
|
0.00001
|
|
NM_001267550.2(TTN):c.54177C>T (p.His18059=)
|
rs772133203
|
0.00001
|
|
NM_001267550.2(TTN):c.54190+17C>G
|
rs759925759
|
0.00001
|
|
NM_001267550.2(TTN):c.54191-8C>G
|
rs1181939066
|
0.00001
|
|
NM_001267550.2(TTN):c.54204A>C (p.Pro18068=)
|
rs1197763731
|
0.00001
|
|
NM_001267550.2(TTN):c.5421T>C (p.Pro1807=)
|
rs779689706
|
0.00001
|
|
NM_001267550.2(TTN):c.54249C>T (p.Tyr18083=)
|
rs1209681119
|
0.00001
|
|
NM_001267550.2(TTN):c.54324T>C (p.Ser18108=)
|
rs397517619
|
0.00001
|
|
NM_001267550.2(TTN):c.54330G>A (p.Lys18110=)
|
rs1167846458
|
0.00001
|
|
NM_001267550.2(TTN):c.54378T>C (p.Tyr18126=)
|
rs769624146
|
0.00001
|
|
NM_001267550.2(TTN):c.543C>T (p.Ser181=)
|
rs758598014
|
0.00001
|
|
NM_001267550.2(TTN):c.54450T>C (p.Ser18150=)
|
rs376316611
|
0.00001
|
|
NM_001267550.2(TTN):c.54555G>A (p.Val18185=)
|
rs537758755
|
0.00001
|
|
NM_001267550.2(TTN):c.54812-10T>G
|
rs1395409113
|
0.00001
|
|
NM_001267550.2(TTN):c.54888A>C (p.Pro18296=)
|
rs1416503595
|
0.00001
|
|
NM_001267550.2(TTN):c.54891C>T (p.Ala18297=)
|
rs1404387312
|
0.00001
|
|
NM_001267550.2(TTN):c.54897T>C (p.Asp18299=)
|
rs879091326
|
0.00001
|
|
NM_001267550.2(TTN):c.54912C>T (p.Ile18304=)
|
rs755601760
|
0.00001
|
|
NM_001267550.2(TTN):c.55010C>T (p.Pro18337Leu)
|
rs764568599
|
0.00001
|
|
NM_001267550.2(TTN):c.55044A>G (p.Arg18348=)
|
rs1014328478
|
0.00001
|
|
NM_001267550.2(TTN):c.55101C>A (p.Ile18367=)
|
rs2053662063
|
0.00001
|
|
NM_001267550.2(TTN):c.55143C>T (p.Asp18381=)
|
rs1057522461
|
0.00001
|
|
NM_001267550.2(TTN):c.55290C>T (p.Pro18430=)
|
rs777904054
|
0.00001
|
|
NM_001267550.2(TTN):c.55303-15A>G
|
rs770858545
|
0.00001
|
|
NM_001267550.2(TTN):c.55359T>C (p.His18453=)
|
rs758900316
|
0.00001
|
|
NM_001267550.2(TTN):c.55425A>G (p.Lys18475=)
|
rs757518858
|
0.00001
|
|
NM_001267550.2(TTN):c.55432+11C>T
|
rs1256005824
|
0.00001
|
|
NM_001267550.2(TTN):c.55432+19G>A
|
rs1213547538
|
0.00001
|
|
NM_001267550.2(TTN):c.55479G>A (p.Arg18493=)
|
rs573602671
|
0.00001
|
|
NM_001267550.2(TTN):c.55503G>A (p.Lys18501=)
|
rs879239475
|
0.00001
|
|
NM_001267550.2(TTN):c.55515C>T (p.Asp18505=)
|
rs141323535
|
0.00001
|
|
NM_001267550.2(TTN):c.55650C>T (p.Phe18550=)
|
rs1248662230
|
0.00001
|
|
NM_001267550.2(TTN):c.55733-15T>G
|
rs765730846
|
0.00001
|
|
NM_001267550.2(TTN):c.55733-19C>A
|
rs750528635
|
0.00001
|
|
NM_001267550.2(TTN):c.5586C>T (p.Cys1862=)
|
rs766457948
|
0.00001
|
|
NM_001267550.2(TTN):c.55875G>A (p.Gly18625=)
|
rs267599045
|
0.00001
|
|
NM_001267550.2(TTN):c.55926G>T (p.Leu18642=)
|
rs1270130661
|
0.00001
|
|
NM_001267550.2(TTN):c.55959G>A (p.Gly18653=)
|
rs373955996
|
0.00001
|
|
NM_001267550.2(TTN):c.55965T>C (p.Tyr18655=)
|
rs772959936
|
0.00001
|
|
NM_001267550.2(TTN):c.55986C>T (p.Val18662=)
|
rs747136342
|
0.00001
|
|
NM_001267550.2(TTN):c.56106T>G (p.Val18702=)
|
rs371043153
|
0.00001
|
|
NM_001267550.2(TTN):c.56142G>A (p.Pro18714=)
|
rs758771859
|
0.00001
|
|
NM_001267550.2(TTN):c.56211T>C (p.His18737=)
|
rs1338848786
|
0.00001
|
|
NM_001267550.2(TTN):c.56256G>A (p.Pro18752=)
|
rs111262307
|
0.00001
|
|
NM_001267550.2(TTN):c.56433T>C (p.Asp18811=)
|
rs771353550
|
0.00001
|
|
NM_001267550.2(TTN):c.56442G>A (p.Gly18814=)
|
rs527288838
|
0.00001
|
|
NM_001267550.2(TTN):c.56487G>A (p.Arg18829=)
|
rs1272419562
|
0.00001
|
|
NM_001267550.2(TTN):c.56583C>T (p.Ala18861=)
|
rs1182032941
|
0.00001
|
|
NM_001267550.2(TTN):c.56643C>A (p.Leu18881=)
|
rs758504388
|
0.00001
|
|
NM_001267550.2(TTN):c.56647+15A>G
|
rs918392584
|
0.00001
|
|
NM_001267550.2(TTN):c.56648-14G>T
|
rs773228107
|
0.00001
|
|
NM_001267550.2(TTN):c.56697C>T (p.Asn18899=)
|
rs764312590
|
0.00001
|
|
NM_001267550.2(TTN):c.56931A>G (p.Pro18977=)
|
rs1395629279
|
0.00001
|
|
NM_001267550.2(TTN):c.56934A>G (p.Ser18978=)
|
rs547270620
|
0.00001
|
|
NM_001267550.2(TTN):c.56962+14C>G
|
rs770180514
|
0.00001
|
|
NM_001267550.2(TTN):c.56997T>C (p.Asp18999=)
|
rs375918771
|
0.00001
|
|
NM_001267550.2(TTN):c.57072C>T (p.Ile19024=)
|
rs751290837
|
0.00001
|
|
NM_001267550.2(TTN):c.57129G>C (p.Val19043=)
|
rs1158953463
|
0.00001
|
|
NM_001267550.2(TTN):c.57162G>A (p.Lys19054=)
|
rs958237286
|
0.00001
|
|
NM_001267550.2(TTN):c.57168A>C (p.Gly19056=)
|
rs1478494265
|
0.00001
|
|
NM_001267550.2(TTN):c.57243T>A (p.Ile19081=)
|
rs1185555417
|
0.00001
|
|
NM_001267550.2(TTN):c.57263-10T>C
|
rs764421567
|
0.00001
|
|
NM_001267550.2(TTN):c.57263-6T>C
|
rs562237741
|
0.00001
|
|
NM_001267550.2(TTN):c.57273C>T (p.Asp19091=)
|
rs587780489
|
0.00001
|
|
NM_001267550.2(TTN):c.57285T>C (p.Asp19095=)
|
rs1250339357
|
0.00001
|
|
NM_001267550.2(TTN):c.57336C>A (p.Ile19112=)
|
rs1353810362
|
0.00001
|
|
NM_001267550.2(TTN):c.57471T>C (p.His19157=)
|
rs765704380
|
0.00001
|
|
NM_001267550.2(TTN):c.57507C>T (p.Ala19169=)
|
rs758951190
|
0.00001
|
|
NM_001267550.2(TTN):c.57558C>T (p.Pro19186=)
|
rs768333256
|
0.00001
|
|
NM_001267550.2(TTN):c.57618T>C (p.Phe19206=)
|
rs879238032
|
0.00001
|
|
NM_001267550.2(TTN):c.57848-19C>G
|
rs753716738
|
0.00001
|
|
NM_001267550.2(TTN):c.57848-5C>T
|
rs764245090
|
0.00001
|
|
NM_001267550.2(TTN):c.57849T>C (p.Thr19283=)
|
rs989489157
|
0.00001
|
|
NM_001267550.2(TTN):c.57927G>A (p.Lys19309=)
|
rs796247929
|
0.00001
|
|
NM_001267550.2(TTN):c.57933T>C (p.Asp19311=)
|
rs554555894
|
0.00001
|
|
NM_001267550.2(TTN):c.58074T>C (p.Arg19358=)
|
rs397517632
|
0.00001
|
|
NM_001267550.2(TTN):c.58095T>C (p.Val19365=)
|
rs368268998
|
0.00001
|
|
NM_001267550.2(TTN):c.58170C>T (p.Leu19390=)
|
rs754108889
|
0.00001
|
|
NM_001267550.2(TTN):c.58185G>A (p.Lys19395=)
|
rs756220273
|
0.00001
|
|
NM_001267550.2(TTN):c.58191G>A (p.Thr19397=)
|
rs370091658
|
0.00001
|
|
NM_001267550.2(TTN):c.58224C>T (p.Gly19408=)
|
rs2050896307
|
0.00001
|
|
NM_001267550.2(TTN):c.58299T>G (p.Thr19433=)
|
rs778334134
|
0.00001
|
|
NM_001267550.2(TTN):c.58353T>A (p.Arg19451=)
|
rs775184645
|
0.00001
|
|
NM_001267550.2(TTN):c.58389C>T (p.Asn19463=)
|
rs1362679313
|
0.00001
|
|
NM_001267550.2(TTN):c.58521T>C (p.Asp19507=)
|
rs773058704
|
0.00001
|
|
NM_001267550.2(TTN):c.58575C>T (p.Asp19525=)
|
rs749735267
|
0.00001
|
|
NM_001267550.2(TTN):c.58653T>C (p.Ile19551=)
|
rs727504980
|
0.00001
|
|
NM_001267550.2(TTN):c.58677G>A (p.Leu19559=)
|
rs375139958
|
0.00001
|
|
NM_001267550.2(TTN):c.58733-11A>G
|
rs751863235
|
0.00001
|
|
NM_001267550.2(TTN):c.58733-5T>A
|
rs1254611353
|
0.00001
|
|
NM_001267550.2(TTN):c.58746A>C (p.Ala19582=)
|
rs1336124090
|
0.00001
|
|
NM_001267550.2(TTN):c.58842C>T (p.Ile19614=)
|
rs762183796
|
0.00001
|
|
NM_001267550.2(TTN):c.58896T>C (p.Pro19632=)
|
rs376700325
|
0.00001
|
|
NM_001267550.2(TTN):c.59007C>G (p.Ser19669=)
|
rs139656306
|
0.00001
|
|
NM_001267550.2(TTN):c.59091C>T (p.Val19697=)
|
rs756192412
|
0.00001
|
|
NM_001267550.2(TTN):c.59157C>T (p.Tyr19719=)
|
rs760315357
|
0.00001
|
|
NM_001267550.2(TTN):c.59185A>C (p.Arg19729=)
|
rs1411662599
|
0.00001
|
|
NM_001267550.2(TTN):c.59232C>A (p.Val19744=)
|
rs2050534422
|
0.00001
|
|
NM_001267550.2(TTN):c.59337C>T (p.Asp19779=)
|
rs772475819
|
0.00001
|
|
NM_001267550.2(TTN):c.59352T>C (p.Pro19784=)
|
rs1377168112
|
0.00001
|
|
NM_001267550.2(TTN):c.59445C>T (p.Phe19815=)
|
rs1328852709
|
0.00001
|
|
NM_001267550.2(TTN):c.59448A>G (p.Pro19816=)
|
rs370606774
|
0.00001
|
|
NM_001267550.2(TTN):c.59502T>C (p.Asp19834=)
|
rs972823319
|
0.00001
|
|
NM_001267550.2(TTN):c.59535T>G (p.Arg19845=)
|
rs370227467
|
0.00001
|
|
NM_001267550.2(TTN):c.59626+10T>G
|
rs1576122744
|
0.00001
|
|
NM_001267550.2(TTN):c.59685C>T (p.Tyr19895=)
|
rs397517644
|
0.00001
|
|
NM_001267550.2(TTN):c.59811C>T (p.Phe19937=)
|
rs781544233
|
0.00001
|
|
NM_001267550.2(TTN):c.60027C>T (p.Ile20009=)
|
rs368279024
|
0.00001
|
|
NM_001267550.2(TTN):c.60030T>C (p.Thr20010=)
|
rs1576111545
|
0.00001
|
|
NM_001267550.2(TTN):c.60033A>C (p.Gly20011=)
|
rs761455000
|
0.00001
|
|
NM_001267550.2(TTN):c.60180C>G (p.Leu20060=)
|
rs876657610
|
0.00001
|
|
NM_001267550.2(TTN):c.60195C>A (p.Ile20065=)
|
rs990501984
|
0.00001
|
|
NM_001267550.2(TTN):c.60221-15A>G
|
rs979267983
|
0.00001
|
|
NM_001267550.2(TTN):c.60225T>C (p.Pro20075=)
|
rs759362913
|
0.00001
|
|
NM_001267550.2(TTN):c.60231C>T (p.Ser20077=)
|
rs751255726
|
0.00001
|
|
NM_001267550.2(TTN):c.6030T>C (p.Tyr2010=)
|
rs1000321939
|
0.00001
|
|
NM_001267550.2(TTN):c.60318T>A (p.Pro20106=)
|
rs377636338
|
0.00001
|
|
NM_001267550.2(TTN):c.60342C>T (p.Thr20114=)
|
rs529529087
|
0.00001
|
|
NM_001267550.2(TTN):c.60621T>C (p.Tyr20207=)
|
rs376959563
|
0.00001
|
|
NM_001267550.2(TTN):c.60627T>C (p.Val20209=)
|
rs767709742
|
0.00001
|
|
NM_001267550.2(TTN):c.60672C>T (p.Ser20224=)
|
rs368680734
|
0.00001
|
|
NM_001267550.2(TTN):c.60816G>A (p.Pro20272=)
|
rs727504529
|
0.00001
|
|
NM_001267550.2(TTN):c.6094A>C (p.Arg2032=)
|
rs1322130237
|
0.00001
|
|
NM_001267550.2(TTN):c.61014A>G (p.Gly20338=)
|
rs757606739
|
0.00001
|
|
NM_001267550.2(TTN):c.61023T>C (p.Tyr20341=)
|
rs778959517
|
0.00001
|
|
NM_001267550.2(TTN):c.61041T>C (p.Ala20347=)
|
rs764447938
|
0.00001
|
|
NM_001267550.2(TTN):c.61104C>T (p.Pro20368=)
|
rs1269580775
|
0.00001
|
|
NM_001267550.2(TTN):c.61284G>A (p.Arg20428=)
|
rs759762530
|
0.00001
|
|
NM_001267550.2(TTN):c.61287A>G (p.Gln20429=)
|
rs774375991
|
0.00001
|
|
NM_001267550.2(TTN):c.61461C>T (p.Thr20487=)
|
rs769161030
|
0.00001
|
|
NM_001267550.2(TTN):c.61476A>G (p.Gln20492=)
|
rs1158967560
|
0.00001
|
|
NM_001267550.2(TTN):c.61572C>T (p.Asp20524=)
|
rs776014619
|
0.00001
|
|
NM_001267550.2(TTN):c.61674C>T (p.Ala20558=)
|
rs892095487
|
0.00001
|
|
NM_001267550.2(TTN):c.61689C>T (p.Ile20563=)
|
rs764640645
|
0.00001
|
|
NM_001267550.2(TTN):c.61740T>C (p.Asn20580=)
|
rs750575772
|
0.00001
|
|
NM_001267550.2(TTN):c.61788T>C (p.Asn20596=)
|
rs878912832
|
0.00001
|
|
NM_001267550.2(TTN):c.61908T>C (p.Asn20636=)
|
rs2049830448
|
0.00001
|
|
NM_001267550.2(TTN):c.61962C>T (p.Ile20654=)
|
rs369710636
|
0.00001
|
|
NM_001267550.2(TTN):c.62166C>T (p.Ser20722=)
|
rs750725073
|
0.00001
|
|
NM_001267550.2(TTN):c.62193C>T (p.Asp20731=)
|
rs1206611321
|
0.00001
|
|
NM_001267550.2(TTN):c.62298A>G (p.Leu20766=)
|
rs368503103
|
0.00001
|
|
NM_001267550.2(TTN):c.6243C>T (p.Phe2081=)
|
rs770052197
|
0.00001
|
|
NM_001267550.2(TTN):c.62535G>A (p.Thr20845=)
|
rs377275061
|
0.00001
|
|
NM_001267550.2(TTN):c.62544C>T (p.Asn20848=)
|
rs771279862
|
0.00001
|
|
NM_001267550.2(TTN):c.62556T>C (p.Ser20852=)
|
rs1184480749
|
0.00001
|
|
NM_001267550.2(TTN):c.62565C>A (p.Ala20855=)
|
rs371253950
|
0.00001
|
|
NM_001267550.2(TTN):c.6267G>C (p.Val2089=)
|
rs1574648084
|
0.00001
|
|
NM_001267550.2(TTN):c.62772A>G (p.Thr20924=)
|
rs1336925839
|
0.00001
|
|
NM_001267550.2(TTN):c.62793A>C (p.Gly20931=)
|
rs373595937
|
0.00001
|
|
NM_001267550.2(TTN):c.6288C>T (p.His2096=)
|
rs756722556
|
0.00001
|
|
NM_001267550.2(TTN):c.63025C>A (p.Arg21009=)
|
rs368452607
|
0.00001
|
|
NM_001267550.2(TTN):c.63060G>A (p.Glu21020=)
|
rs1391810054
|
0.00001
|
|
NM_001267550.2(TTN):c.63087C>T (p.Leu21029=)
|
rs753066420
|
0.00001
|
|
NM_001267550.2(TTN):c.63114C>A (p.Val21038=)
|
rs201642579
|
0.00001
|
|
NM_001267550.2(TTN):c.63135A>G (p.Gly21045=)
|
rs775306395
|
0.00001
|
|
NM_001267550.2(TTN):c.63168G>A (p.Val21056=)
|
rs900253685
|
0.00001
|
|
NM_001267550.2(TTN):c.63187+14G>C
|
rs755367599
|
0.00001
|
|
NM_001267550.2(TTN):c.63195T>C (p.Pro21065=)
|
rs1201338150
|
0.00001
|
|
NM_001267550.2(TTN):c.63198T>A (p.Gly21066=)
|
rs1176342734
|
0.00001
|
|
NM_001267550.2(TTN):c.63270T>C (p.Tyr21090=)
|
rs878991431
|
0.00001
|
|
NM_001267550.2(TTN):c.63417G>A (p.Gln21139=)
|
rs1167463666
|
0.00001
|
|
NM_001267550.2(TTN):c.63501A>G (p.Glu21167=)
|
rs1320961781
|
0.00001
|
|
NM_001267550.2(TTN):c.63509-18C>A
|
rs761915660
|
0.00001
|
|
NM_001267550.2(TTN):c.63516G>A (p.Pro21172=)
|
rs372493799
|
0.00001
|
|
NM_001267550.2(TTN):c.63606A>G (p.Pro21202=)
|
rs878905375
|
0.00001
|
|
NM_001267550.2(TTN):c.63699C>T (p.Ile21233=)
|
rs759722233
|
0.00001
|
|
NM_001267550.2(TTN):c.63906C>A (p.Ile21302=)
|
rs566830548
|
0.00001
|
|
NM_001267550.2(TTN):c.63906C>T (p.Ile21302=)
|
rs566830548
|
0.00001
|
|
NM_001267550.2(TTN):c.63921G>A (p.Glu21307=)
|
rs1466883677
|
0.00001
|
|
NM_001267550.2(TTN):c.63936A>G (p.Thr21312=)
|
rs1471912514
|
0.00001
|
|
NM_001267550.2(TTN):c.63972C>T (p.Ser21324=)
|
rs2049219255
|
0.00001
|
|
NM_001267550.2(TTN):c.63984C>T (p.Thr21328=)
|
rs1215687824
|
0.00001
|
|
NM_001267550.2(TTN):c.64041C>A (p.Gly21347=)
|
rs760326387
|
0.00001
|
|
NM_001267550.2(TTN):c.6405A>G (p.Glu2135=)
|
rs545008484
|
0.00001
|
|
NM_001267550.2(TTN):c.6406T>C (p.Leu2136=)
|
rs765377738
|
0.00001
|
|
NM_001267550.2(TTN):c.64162T>C (p.Leu21388=)
|
rs1333849447
|
0.00001
|
|
NM_001267550.2(TTN):c.64171C>T (p.Leu21391=)
|
rs371009616
|
0.00001
|
|
NM_001267550.2(TTN):c.64185T>G (p.Gly21395=)
|
rs1041490202
|
0.00001
|
|
NM_001267550.2(TTN):c.64194C>T (p.Ile21398=)
|
rs756809018
|
0.00001
|
|
NM_001267550.2(TTN):c.64206C>T (p.Ile21402=)
|
rs752270069
|
0.00001
|
|
NM_001267550.2(TTN):c.64224A>G (p.Glu21408=)
|
rs370236860
|
0.00001
|
|
NM_001267550.2(TTN):c.6423G>A (p.Val2141=)
|
rs768989325
|
0.00001
|
|
NM_001267550.2(TTN):c.6432G>A (p.Glu2144=)
|
rs775967972
|
0.00001
|
|
NM_001267550.2(TTN):c.64374G>A (p.Val21458=)
|
rs747623526
|
0.00001
|
|
NM_001267550.2(TTN):c.64393C>T (p.Leu21465=)
|
rs1369120510
|
0.00001
|
|
NM_001267550.2(TTN):c.64443G>A (p.Gly21481=)
|
rs747850027
|
0.00001
|
|
NM_001267550.2(TTN):c.64453C>A (p.Arg21485=)
|
rs768345594
|
0.00001
|
|
NM_001267550.2(TTN):c.64587G>A (p.Val21529=)
|
rs1060503969
|
0.00001
|
|
NM_001267550.2(TTN):c.64672+11T>C
|
rs752070307
|
0.00001
|
|
NM_001267550.2(TTN):c.64672+8A>G
|
rs1275501158
|
0.00001
|
|
NM_001267550.2(TTN):c.64673-4G>A
|
rs374608122
|
0.00001
|
|
NM_001267550.2(TTN):c.64673-9T>C
|
rs1370943867
|
0.00001
|
|
NM_001267550.2(TTN):c.64719C>T (p.Asp21573=)
|
rs727504967
|
0.00001
|
|
NM_001267550.2(TTN):c.64767C>G (p.Gly21589=)
|
rs1060503955
|
0.00001
|
|
NM_001267550.2(TTN):c.64773C>T (p.Asn21591=)
|
rs747049404
|
0.00001
|
|
NM_001267550.2(TTN):c.6477A>G (p.Glu2159=)
|
rs779874305
|
0.00001
|
|
NM_001267550.2(TTN):c.64785T>C (p.Tyr21595=)
|
rs751009684
|
0.00001
|
|
NM_001267550.2(TTN):c.64827G>A (p.Thr21609=)
|
rs377420188
|
0.00001
|
|
NM_001267550.2(TTN):c.64968A>G (p.Pro21656=)
|
rs376921740
|
0.00001
|
|
NM_001267550.2(TTN):c.64989A>C (p.Pro21663=)
|
rs910020189
|
0.00001
|
|
NM_001267550.2(TTN):c.65001A>C (p.Arg21667=)
|
rs749850905
|
0.00001
|
|
NM_001267550.2(TTN):c.65022C>T (p.Asp21674=)
|
rs866763453
|
0.00001
|
|
NM_001267550.2(TTN):c.65028T>A (p.Ile21676=)
|
rs763970293
|
0.00001
|
|
NM_001267550.2(TTN):c.6509-15A>G
|
rs1554004514
|
0.00001
|
|
NM_001267550.2(TTN):c.65115G>A (p.Leu21705=)
|
rs1449900594
|
0.00001
|
|
NM_001267550.2(TTN):c.65121G>A (p.Val21707=)
|
rs1176792613
|
0.00001
|
|
NM_001267550.2(TTN):c.65130T>C (p.Asn21710=)
|
rs752492828
|
0.00001
|
|
NM_001267550.2(TTN):c.65139T>C (p.Leu21713=)
|
rs959702630
|
0.00001
|
|
NM_001267550.2(TTN):c.65275+13G>T
|
rs727504999
|
0.00001
|
|
NM_001267550.2(TTN):c.65276-12T>C
|
rs753923234
|
0.00001
|
|
NM_001267550.2(TTN):c.65276-9T>G
|
rs764622661
|
0.00001
|
|
NM_001267550.2(TTN):c.65373C>T (p.Gly21791=)
|
rs905341036
|
0.00001
|
|
NM_001267550.2(TTN):c.65466T>C (p.Thr21822=)
|
rs761550395
|
0.00001
|
|
NM_001267550.2(TTN):c.65514C>T (p.Thr21838=)
|
rs372543748
|
0.00001
|
|
NM_001267550.2(TTN):c.65562C>T (p.Ile21854=)
|
rs1575958372
|
0.00001
|
|
NM_001267550.2(TTN):c.65565C>T (p.Leu21855=)
|
rs367880653
|
0.00001
|
|
NM_001267550.2(TTN):c.65576-8C>A
|
rs1274903683
|
0.00001
|
|
NM_001267550.2(TTN):c.65592C>T (p.Asp21864=)
|
rs2048168330
|
0.00001
|
|
NM_001267550.2(TTN):c.65598T>C (p.Ser21866=)
|
rs370897841
|
0.00001
|
|
NM_001267550.2(TTN):c.65673G>A (p.Pro21891=)
|
rs765142907
|
0.00001
|
|
NM_001267550.2(TTN):c.65706A>C (p.Thr21902=)
|
rs530580859
|
0.00001
|
|
NM_001267550.2(TTN):c.65709G>A (p.Leu21903=)
|
rs1026264406
|
0.00001
|
|
NM_001267550.2(TTN):c.65748G>C (p.Arg21916=)
|
rs879000743
|
0.00001
|
|
NM_001267550.2(TTN):c.65760C>T (p.Thr21920=)
|
rs753720118
|
0.00001
|
|
NM_001267550.2(TTN):c.65799C>T (p.Asp21933=)
|
rs370123011
|
0.00001
|
|
NM_001267550.2(TTN):c.65802T>C (p.Tyr21934=)
|
rs980406493
|
0.00001
|
|
NM_001267550.2(TTN):c.65850G>A (p.Lys21950=)
|
rs757863803
|
0.00001
|
|
NM_001267550.2(TTN):c.65863+17A>G
|
rs749904130
|
0.00001
|
|
NM_001267550.2(TTN):c.65863+18T>C
|
rs1157077323
|
0.00001
|
|
NM_001267550.2(TTN):c.65863+19T>C
|
rs1449469581
|
0.00001
|
|
NM_001267550.2(TTN):c.65871G>A (p.Pro21957=)
|
rs771651842
|
0.00001
|
|
NM_001267550.2(TTN):c.65937G>A (p.Pro21979=)
|
rs765734959
|
0.00001
|
|
NM_001267550.2(TTN):c.66021T>C (p.Ser22007=)
|
rs370252623
|
0.00001
|
|
NM_001267550.2(TTN):c.66048C>T (p.Ser22016=)
|
rs997612485
|
0.00001
|
|
NM_001267550.2(TTN):c.66160+7A>C
|
rs766083437
|
0.00001
|
|
NM_001267550.2(TTN):c.66160+8C>T
|
rs2047958013
|
0.00001
|
|
NM_001267550.2(TTN):c.66300T>C (p.Val22100=)
|
rs1234198921
|
0.00001
|
|
NM_001267550.2(TTN):c.6630T>C (p.Asp2210=)
|
rs1234622480
|
0.00001
|
|
NM_001267550.2(TTN):c.66324A>G (p.Lys22108=)
|
rs1321492026
|
0.00001
|
|
NM_001267550.2(TTN):c.66357T>A (p.Gly22119=)
|
rs1471586274
|
0.00001
|
|
NM_001267550.2(TTN):c.66423C>T (p.Pro22141=)
|
rs1322620894
|
0.00001
|
|
NM_001267550.2(TTN):c.66441C>T (p.Ala22147=)
|
rs727503578
|
0.00001
|
|
NM_001267550.2(TTN):c.66450T>G (p.Ala22150=)
|
rs727504643
|
0.00001
|
|
NM_001267550.2(TTN):c.66463+10C>T
|
rs1216304664
|
0.00001
|
|
NM_001267550.2(TTN):c.66463+17G>A
|
rs202244470
|
0.00001
|
|
NM_001267550.2(TTN):c.66552C>T (p.Gly22184=)
|
rs146502705
|
0.00001
|
|
NM_001267550.2(TTN):c.6672T>C (p.Ser2224=)
|
rs777786677
|
0.00001
|
|
NM_001267550.2(TTN):c.66766T>C (p.Leu22256=)
|
rs752922922
|
0.00001
|
|
NM_001267550.2(TTN):c.66769+15G>C
|
rs751656168
|
0.00001
|
|
NM_001267550.2(TTN):c.66770-10A>C
|
rs769421715
|
0.00001
|
|
NM_001267550.2(TTN):c.66770-6A>C
|
rs200373454
|
0.00001
|
|
NM_001267550.2(TTN):c.6678A>G (p.Arg2226=)
|
rs906965623
|
0.00001
|
|
NM_001267550.2(TTN):c.66794C>T (p.Ala22265Val)
|
rs750836266
|
0.00001
|
|
NM_001267550.2(TTN):c.66795G>A (p.Ala22265=)
|
rs765777105
|
0.00001
|
|
NM_001267550.2(TTN):c.669+15T>C
|
rs369211975
|
0.00001
|
|
NM_001267550.2(TTN):c.6690C>T (p.Phe2230=)
|
rs755122338
|
0.00001
|
|
NM_001267550.2(TTN):c.66948C>T (p.Asp22316=)
|
rs775649360
|
0.00001
|
|
NM_001267550.2(TTN):c.66996T>C (p.Tyr22332=)
|
rs397517668
|
0.00001
|
|
NM_001267550.2(TTN):c.67005C>G (p.Thr22335=)
|
rs1206593826
|
0.00001
|
|
NM_001267550.2(TTN):c.67200C>T (p.Ser22400=)
|
rs1403129479
|
0.00001
|
|
NM_001267550.2(TTN):c.67212G>A (p.Val22404=)
|
rs977492019
|
0.00001
|
|
NM_001267550.2(TTN):c.67317C>T (p.Pro22439=)
|
rs747645787
|
0.00001
|
|
NM_001267550.2(TTN):c.67338C>T (p.Val22446=)
|
rs1246667885
|
0.00001
|
|
NM_001267550.2(TTN):c.67349-14C>A
|
rs757460062
|
0.00001
|
|
NM_001267550.2(TTN):c.67428C>T (p.His22476=)
|
rs772184456
|
0.00001
|
|
NM_001267550.2(TTN):c.67569G>A (p.Val22523=)
|
rs376719475
|
0.00001
|
|
NM_001267550.2(TTN):c.67637-9A>G
|
rs2047164551
|
0.00001
|
|
NM_001267550.2(TTN):c.67681T>C (p.Leu22561=)
|
rs397517671
|
0.00001
|
|
NM_001267550.2(TTN):c.67692A>G (p.Glu22564=)
|
rs780239325
|
0.00001
|
|
NM_001267550.2(TTN):c.67743A>T (p.Ser22581=)
|
rs2047137031
|
0.00001
|
|
NM_001267550.2(TTN):c.67788A>G (p.Arg22596=)
|
rs1326950042
|
0.00001
|
|
NM_001267550.2(TTN):c.67827A>C (p.Ile22609=)
|
rs751153093
|
0.00001
|
|
NM_001267550.2(TTN):c.6790+13G>A
|
rs758773000
|
0.00001
|
|
NM_001267550.2(TTN):c.6791-11A>G
|
rs368202177
|
0.00001
|
|
NM_001267550.2(TTN):c.67914A>C (p.Ile22638=)
|
rs878934438
|
0.00001
|
|
NM_001267550.2(TTN):c.67923T>C (p.Val22641=)
|
rs759628511
|
0.00001
|
|
NM_001267550.2(TTN):c.67980C>T (p.Ala22660=)
|
rs756764696
|
0.00001
|
|
NM_001267550.2(TTN):c.68010T>C (p.Asp22670=)
|
rs767755200
|
0.00001
|
|
NM_001267550.2(TTN):c.68040C>T (p.Ile22680=)
|
rs1422070023
|
0.00001
|
|
NM_001267550.2(TTN):c.68052G>A (p.Arg22684=)
|
rs770247697
|
0.00001
|
|
NM_001267550.2(TTN):c.68067C>T (p.Asn22689=)
|
rs777832243
|
0.00001
|
|
NM_001267550.2(TTN):c.68142T>C (p.Tyr22714=)
|
rs377007499
|
0.00001
|
|
NM_001267550.2(TTN):c.68160C>T (p.Ala22720=)
|
rs397517673
|
0.00001
|
|
NM_001267550.2(TTN):c.68181G>A (p.Gly22727=)
|
rs2047051742
|
0.00001
|
|
NM_001267550.2(TTN):c.68196G>A (p.Ser22732=)
|
rs397517674
|
0.00001
|
|
NM_001267550.2(TTN):c.68199G>A (p.Glu22733=)
|
rs375672522
|
0.00001
|
|
NM_001267550.2(TTN):c.68224+20A>G
|
rs753714710
|
0.00001
|
|
NM_001267550.2(TTN):c.68225-9T>A
|
rs780964424
|
0.00001
|
|
NM_001267550.2(TTN):c.68304G>A (p.Lys22768=)
|
rs776267206
|
0.00001
|
|
NM_001267550.2(TTN):c.68330-15C>T
|
rs752008027
|
0.00001
|
|
NM_001267550.2(TTN):c.68330-6T>C
|
rs761596321
|
0.00001
|
|
NM_001267550.2(TTN):c.68330-9C>G
|
rs764788146
|
0.00001
|
|
NM_001267550.2(TTN):c.68340C>T (p.Leu22780=)
|
rs763640690
|
0.00001
|
|
NM_001267550.2(TTN):c.68352A>G (p.Glu22784=)
|
rs772087782
|
0.00001
|
|
NM_001267550.2(TTN):c.68376A>G (p.Arg22792=)
|
rs2046863112
|
0.00001
|
|
NM_001267550.2(TTN):c.68388T>C (p.Thr22796=)
|
rs748254268
|
0.00001
|
|
NM_001267550.2(TTN):c.68415G>A (p.Val22805=)
|
rs766702408
|
0.00001
|
|
NM_001267550.2(TTN):c.68460A>T (p.Ala22820=)
|
rs1308326501
|
0.00001
|
|
NM_001267550.2(TTN):c.68466T>C (p.Asn22822=)
|
rs2046840597
|
0.00001
|
|
NM_001267550.2(TTN):c.68528-8T>C
|
rs746223377
|
0.00001
|
|
NM_001267550.2(TTN):c.6864C>T (p.Cys2288=)
|
rs543264216
|
0.00001
|
|
NM_001267550.2(TTN):c.68712T>C (p.Thr22904=)
|
rs397517678
|
0.00001
|
|
NM_001267550.2(TTN):c.68825-7T>A
|
rs767881914
|
0.00001
|
|
NM_001267550.2(TTN):c.68825-8C>G
|
rs934241905
|
0.00001
|
|
NM_001267550.2(TTN):c.68904C>T (p.Ala22968=)
|
rs927987931
|
0.00001
|
|
NM_001267550.2(TTN):c.68961C>T (p.Asp22987=)
|
rs1407598197
|
0.00001
|
|
NM_001267550.2(TTN):c.68997C>A (p.Thr22999=)
|
rs369068922
|
0.00001
|
|
NM_001267550.2(TTN):c.69087G>A (p.Lys23029=)
|
rs879204119
|
0.00001
|
|
NM_001267550.2(TTN):c.69117T>C (p.Asp23039=)
|
rs727503572
|
0.00001
|
|
NM_001267550.2(TTN):c.69333C>A (p.Ile23111=)
|
rs1274553766
|
0.00001
|
|
NM_001267550.2(TTN):c.69360T>C (p.Tyr23120=)
|
rs879015798
|
0.00001
|
|
NM_001267550.2(TTN):c.69423C>A (p.Gly23141=)
|
rs1362300563
|
0.00001
|
|
NM_001267550.2(TTN):c.69426T>C (p.Pro23142=)
|
rs1311190415
|
0.00001
|
|
NM_001267550.2(TTN):c.69474C>G (p.Val23158=)
|
rs1290297669
|
0.00001
|
|
NM_001267550.2(TTN):c.69486G>A (p.Arg23162=)
|
rs1055249165
|
0.00001
|
|
NM_001267550.2(TTN):c.69507C>T (p.Ser23169=)
|
rs763640597
|
0.00001
|
|
NM_001267550.2(TTN):c.69525T>C (p.His23175=)
|
rs774189877
|
0.00001
|
|
NM_001267550.2(TTN):c.69579A>G (p.Pro23193=)
|
rs878854329
|
0.00001
|
|
NM_001267550.2(TTN):c.69606A>C (p.Thr23202=)
|
rs1484321589
|
0.00001
|
|
NM_001267550.2(TTN):c.69630C>T (p.Tyr23210=)
|
rs777602537
|
0.00001
|
|
NM_001267550.2(TTN):c.69639T>C (p.Arg23213=)
|
rs1487392148
|
0.00001
|
|
NM_001267550.2(TTN):c.69708T>C (p.Asp23236=)
|
rs530173124
|
0.00001
|
|
NM_001267550.2(TTN):c.69715+8T>C
|
rs539199374
|
0.00001
|
|
NM_001267550.2(TTN):c.69822C>T (p.Gly23274=)
|
rs757102551
|
0.00001
|
|
NM_001267550.2(TTN):c.69915T>C (p.Asp23305=)
|
rs376486631
|
0.00001
|
|
NM_001267550.2(TTN):c.69954C>T (p.Ala23318=)
|
rs1391755399
|
0.00001
|
|
NM_001267550.2(TTN):c.70005C>T (p.Ile23335=)
|
rs541680047
|
0.00001
|
|
NM_001267550.2(TTN):c.70053A>G (p.Arg23351=)
|
rs777641437
|
0.00001
|
|
NM_001267550.2(TTN):c.70083T>C (p.Ser23361=)
|
rs766781496
|
0.00001
|
|
NM_001267550.2(TTN):c.7011C>T (p.Ser2337=)
|
rs748694772
|
0.00001
|
|
NM_001267550.2(TTN):c.70137C>T (p.Thr23379=)
|
rs770349910
|
0.00001
|
|
NM_001267550.2(TTN):c.70182G>A (p.Thr23394=)
|
rs376989129
|
0.00001
|
|
NM_001267550.2(TTN):c.70224T>C (p.Tyr23408=)
|
rs908321623
|
0.00001
|
|
NM_001267550.2(TTN):c.70326G>A (p.Leu23442=)
|
rs1468145399
|
0.00001
|
|
NM_001267550.2(TTN):c.70410C>T (p.Tyr23470=)
|
rs758189623
|
0.00001
|
|
NM_001267550.2(TTN):c.70455C>T (p.Ala23485=)
|
rs759693169
|
0.00001
|
|
NM_001267550.2(TTN):c.70533A>G (p.Ala23511=)
|
rs1253810679
|
0.00001
|
|
NM_001267550.2(TTN):c.70563A>G (p.Thr23521=)
|
rs373686744
|
0.00001
|
|
NM_001267550.2(TTN):c.70647C>T (p.Val23549=)
|
rs752532543
|
0.00001
|
|
NM_001267550.2(TTN):c.70656A>G (p.Ala23552=)
|
rs372399881
|
0.00001
|
|
NM_001267550.2(TTN):c.70665G>A (p.Lys23555=)
|
rs200320762
|
0.00001
|
|
NM_001267550.2(TTN):c.70674C>T (p.His23558=)
|
rs761993177
|
0.00001
|
|
NM_001267550.2(TTN):c.70752C>T (p.Thr23584=)
|
rs761787250
|
0.00001
|
|
NM_001267550.2(TTN):c.70758A>G (p.Lys23586=)
|
rs764276736
|
0.00001
|
|
NM_001267550.2(TTN):c.70785A>G (p.Leu23595=)
|
rs918782056
|
0.00001
|
|
NM_001267550.2(TTN):c.70863C>T (p.Pro23621=)
|
rs774842328
|
0.00001
|
|
NM_001267550.2(TTN):c.71013C>T (p.Asp23671=)
|
rs531500249
|
0.00001
|
|
NM_001267550.2(TTN):c.71022T>C (p.Leu23674=)
|
rs201333699
|
0.00001
|
|
NM_001267550.2(TTN):c.71031A>G (p.Thr23677=)
|
rs749141184
|
0.00001
|
|
NM_001267550.2(TTN):c.71181A>G (p.Pro23727=)
|
rs748351899
|
0.00001
|
|
NM_001267550.2(TTN):c.71184G>A (p.Gly23728=)
|
rs1429918661
|
0.00001
|
|
NM_001267550.2(TTN):c.711T>G (p.Val237=)
|
rs751394557
|
0.00001
|
|
NM_001267550.2(TTN):c.71292G>A (p.Val23764=)
|
rs868217593
|
0.00001
|
|
NM_001267550.2(TTN):c.71319C>T (p.Thr23773=)
|
rs559204842
|
0.00001
|
|
NM_001267550.2(TTN):c.71340C>T (p.Thr23780=)
|
rs540210124
|
0.00001
|
|
NM_001267550.2(TTN):c.71421T>C (p.Tyr23807=)
|
rs745999472
|
0.00001
|
|
NM_001267550.2(TTN):c.71520G>A (p.Lys23840=)
|
rs750011261
|
0.00001
|
|
NM_001267550.2(TTN):c.71553T>A (p.Leu23851=)
|
rs373388052
|
0.00001
|
|
NM_001267550.2(TTN):c.7156G>A (p.Gly2386Ser)
|
rs777101912
|
0.00001
|
|
NM_001267550.2(TTN):c.71667T>C (p.Ser23889=)
|
rs756824434
|
0.00001
|
|
NM_001267550.2(TTN):c.71676A>T (p.Thr23892=)
|
rs1192063005
|
0.00001
|
|
NM_001267550.2(TTN):c.7173C>T (p.Asp2391=)
|
rs374509926
|
0.00001
|
|
NM_001267550.2(TTN):c.71766G>A (p.Leu23922=)
|
rs778665872
|
0.00001
|
|
NM_001267550.2(TTN):c.7176C>T (p.Gly2392=)
|
rs780985946
|
0.00001
|
|
NM_001267550.2(TTN):c.71800C>T (p.Leu23934=)
|
rs1465413205
|
0.00001
|
|
NM_001267550.2(TTN):c.71881G>A (p.Val23961Ile)
|
rs397517690
|
0.00001
|
|
NM_001267550.2(TTN):c.71946T>C (p.Asn23982=)
|
rs1575784666
|
0.00001
|
|
NM_001267550.2(TTN):c.72000C>T (p.Ile24000=)
|
rs776538231
|
0.00001
|
|
NM_001267550.2(TTN):c.72003C>T (p.Ala24001=)
|
rs1263740743
|
0.00001
|
|
NM_001267550.2(TTN):c.72090G>A (p.Lys24030=)
|
rs991071532
|
0.00001
|
|
NM_001267550.2(TTN):c.72167G>A (p.Arg24056His)
|
rs398124455
|
0.00001
|
|
NM_001267550.2(TTN):c.72198T>C (p.Asp24066=)
|
rs752014113
|
0.00001
|
|
NM_001267550.2(TTN):c.72231A>G (p.Glu24077=)
|
rs1423712037
|
0.00001
|
|
NM_001267550.2(TTN):c.72273T>C (p.Asp24091=)
|
rs1553609798
|
0.00001
|
|
NM_001267550.2(TTN):c.7239C>T (p.Leu2413=)
|
rs1574622425
|
0.00001
|
|
NM_001267550.2(TTN):c.72414A>G (p.Glu24138=)
|
rs1400378041
|
0.00001
|
|
NM_001267550.2(TTN):c.72426A>G (p.Leu24142=)
|
rs747483481
|
0.00001
|
|
NM_001267550.2(TTN):c.724G>A (p.Asp242Asn)
|
rs1310304613
|
0.00001
|
|
NM_001267550.2(TTN):c.72615G>A (p.Val24205=)
|
rs754526723
|
0.00001
|
|
NM_001267550.2(TTN):c.72630A>G (p.Glu24210=)
|
rs1384344292
|
0.00001
|
|
NM_001267550.2(TTN):c.72663A>C (p.Gly24221=)
|
rs1300530218
|
0.00001
|
|
NM_001267550.2(TTN):c.72690A>G (p.Glu24230=)
|
rs371032392
|
0.00001
|
|
NM_001267550.2(TTN):c.72714G>A (p.Ser24238=)
|
rs779663528
|
0.00001
|
|
NM_001267550.2(TTN):c.72774T>C (p.Ile24258=)
|
rs1057172488
|
0.00001
|
|
NM_001267550.2(TTN):c.72864A>G (p.Thr24288=)
|
rs879070035
|
0.00001
|
|
NM_001267550.2(TTN):c.72885C>T (p.Phe24295=)
|
rs958949797
|
0.00001
|
|
NM_001267550.2(TTN):c.72966T>C (p.Phe24322=)
|
rs1238110016
|
0.00001
|
|
NM_001267550.2(TTN):c.73026C>T (p.Ile24342=)
|
rs750944951
|
0.00001
|
|
NM_001267550.2(TTN):c.73149G>A (p.Ser24383=)
|
rs564938876
|
0.00001
|
|
NM_001267550.2(TTN):c.73185T>C (p.Tyr24395=)
|
rs794729283
|
0.00001
|
|
NM_001267550.2(TTN):c.73212C>T (p.Ser24404=)
|
rs754332135
|
0.00001
|
|
NM_001267550.2(TTN):c.73224G>A (p.Gly24408=)
|
rs371034493
|
0.00001
|
|
NM_001267550.2(TTN):c.73305C>T (p.Arg24435=)
|
rs1424616183
|
0.00001
|
|
NM_001267550.2(TTN):c.7331-8T>C
|
rs1481205499
|
0.00001
|
|
NM_001267550.2(TTN):c.73362A>C (p.Gly24454=)
|
rs749392350
|
0.00001
|
|
NM_001267550.2(TTN):c.73509T>C (p.Asn24503=)
|
rs536578166
|
0.00001
|
|
NM_001267550.2(TTN):c.73576C>T (p.Leu24526=)
|
rs1438772103
|
0.00001
|
|
NM_001267550.2(TTN):c.73590G>A (p.Glu24530=)
|
rs372089626
|
0.00001
|
|
NM_001267550.2(TTN):c.73605T>C (p.Ser24535=)
|
rs751252010
|
0.00001
|
|
NM_001267550.2(TTN):c.73638T>C (p.Asp24546=)
|
rs761939297
|
0.00001
|
|
NM_001267550.2(TTN):c.73695A>G (p.Ala24565=)
|
rs1358326550
|
0.00001
|
|
NM_001267550.2(TTN):c.73704T>A (p.Thr24568=)
|
rs1204498573
|
0.00001
|
|
NM_001267550.2(TTN):c.73746G>A (p.Gln24582=)
|
rs768752636
|
0.00001
|
|
NM_001267550.2(TTN):c.73782C>T (p.Leu24594=)
|
rs187307196
|
0.00001
|
|
NM_001267550.2(TTN):c.73797T>C (p.Tyr24599=)
|
rs751433631
|
0.00001
|
|
NM_001267550.2(TTN):c.73803T>C (p.Ile24601=)
|
rs780102184
|
0.00001
|
|
NM_001267550.2(TTN):c.73821C>T (p.Thr24607=)
|
rs1244080875
|
0.00001
|
|
NM_001267550.2(TTN):c.74028C>T (p.Ile24676=)
|
rs757040597
|
0.00001
|
|
NM_001267550.2(TTN):c.74055C>T (p.Tyr24685=)
|
rs763563305
|
0.00001
|
|
NM_001267550.2(TTN):c.74124C>A (p.Ile24708=)
|
rs758928659
|
0.00001
|
|
NM_001267550.2(TTN):c.74161C>T (p.Leu24721=)
|
rs770457900
|
0.00001
|
|
NM_001267550.2(TTN):c.74331C>T (p.Asp24777=)
|
rs368530092
|
0.00001
|
|
NM_001267550.2(TTN):c.74412C>T (p.Ile24804=)
|
rs531223049
|
0.00001
|
|
NM_001267550.2(TTN):c.74505T>C (p.Tyr24835=)
|
rs767447882
|
0.00001
|
|
NM_001267550.2(TTN):c.74562C>T (p.Thr24854=)
|
rs767193647
|
0.00001
|
|
NM_001267550.2(TTN):c.74613C>T (p.Cys24871=)
|
rs747477017
|
0.00001
|
|
NM_001267550.2(TTN):c.74763C>T (p.Ser24921=)
|
rs371563258
|
0.00001
|
|
NM_001267550.2(TTN):c.74769C>T (p.Asp24923=)
|
rs772359226
|
0.00001
|
|
NM_001267550.2(TTN):c.74860C>T (p.Leu24954Phe)
|
rs202191466
|
0.00001
|
|
NM_001267550.2(TTN):c.74901G>A (p.Lys24967=)
|
rs746943691
|
0.00001
|
|
NM_001267550.2(TTN):c.74943T>C (p.Phe24981=)
|
rs1575744134
|
0.00001
|
|
NM_001267550.2(TTN):c.74965G>A (p.Val24989Met)
|
rs567800207
|
0.00001
|
|
NM_001267550.2(TTN):c.74982G>A (p.Pro24994=)
|
rs375232524
|
0.00001
|
|
NM_001267550.2(TTN):c.75051T>C (p.Ile25017=)
|
rs1409342182
|
0.00001
|
|
NM_001267550.2(TTN):c.75054C>G (p.Val25018=)
|
rs1327022068
|
0.00001
|
|
NM_001267550.2(TTN):c.75057A>G (p.Thr25019=)
|
rs778646316
|
0.00001
|
|
NM_001267550.2(TTN):c.750A>G (p.Pro250=)
|
rs1227298156
|
0.00001
|
|
NM_001267550.2(TTN):c.75142T>C (p.Leu25048=)
|
rs1034492140
|
0.00001
|
|
NM_001267550.2(TTN):c.75231T>C (p.Tyr25077=)
|
rs750699540
|
0.00001
|
|
NM_001267550.2(TTN):c.75258C>T (p.Ala25086=)
|
rs577554705
|
0.00001
|
|
NM_001267550.2(TTN):c.75363C>T (p.Ile25121=)
|
rs765944912
|
0.00001
|
|
NM_001267550.2(TTN):c.75366G>A (p.Val25122=)
|
rs750424357
|
0.00001
|
|
NM_001267550.2(TTN):c.75378T>A (p.Gly25126=)
|
rs886055246
|
0.00001
|
|
NM_001267550.2(TTN):c.75408T>C (p.Tyr25136=)
|
rs769484085
|
0.00001
|
|
NM_001267550.2(TTN):c.75519T>C (p.Asp25173=)
|
rs1707836839
|
0.00001
|
|
NM_001267550.2(TTN):c.75696T>C (p.Asp25232=)
|
rs199935312
|
0.00001
|
|
NM_001267550.2(TTN):c.75873T>C (p.Leu25291=)
|
rs758634214
|
0.00001
|
|
NM_001267550.2(TTN):c.7594+19A>G
|
rs1035017342
|
0.00001
|
|
NM_001267550.2(TTN):c.7595-7T>C
|
rs754250448
|
0.00001
|
|
NM_001267550.2(TTN):c.76119C>T (p.His25373=)
|
rs764739209
|
0.00001
|
|
NM_001267550.2(TTN):c.76200T>C (p.Cys25400=)
|
rs397517705
|
0.00001
|
|
NM_001267550.2(TTN):c.76374A>G (p.Pro25458=)
|
rs891629905
|
0.00001
|
|
NM_001267550.2(TTN):c.76374A>T (p.Pro25458=)
|
rs891629905
|
0.00001
|
|
NM_001267550.2(TTN):c.76386T>C (p.Asn25462=)
|
rs747509537
|
0.00001
|
|
NM_001267550.2(TTN):c.76401A>G (p.Glu25467=)
|
rs369018558
|
0.00001
|
|
NM_001267550.2(TTN):c.76428A>G (p.Glu25476=)
|
rs777465940
|
0.00001
|
|
NM_001267550.2(TTN):c.76431C>T (p.Tyr25477=)
|
rs755746437
|
0.00001
|
|
NM_001267550.2(TTN):c.76483G>A (p.Val25495Ile)
|
rs773127796
|
0.00001
|
|
NM_001267550.2(TTN):c.76641G>A (p.Val25547=)
|
rs1366393800
|
0.00001
|
|
NM_001267550.2(TTN):c.76779T>C (p.Phe25593=)
|
rs1707263407
|
0.00001
|
|
NM_001267550.2(TTN):c.76809T>C (p.Ser25603=)
|
rs371140114
|
0.00001
|
|
NM_001267550.2(TTN):c.76933A>C (p.Arg25645=)
|
rs1295081106
|
0.00001
|
|
NM_001267550.2(TTN):c.76944T>C (p.Tyr25648=)
|
rs1160047014
|
0.00001
|
|
NM_001267550.2(TTN):c.76986C>T (p.Ile25662=)
|
rs751678747
|
0.00001
|
|
NM_001267550.2(TTN):c.77037T>C (p.Asn25679=)
|
rs372800320
|
0.00001
|
|
NM_001267550.2(TTN):c.77091A>G (p.Glu25697=)
|
rs1427670072
|
0.00001
|
|
NM_001267550.2(TTN):c.77166T>C (p.Pro25722=)
|
rs757252494
|
0.00001
|
|
NM_001267550.2(TTN):c.77256G>A (p.Lys25752=)
|
rs1328743149
|
0.00001
|
|
NM_001267550.2(TTN):c.77259T>C (p.Ser25753=)
|
rs1230272856
|
0.00001
|
|
NM_001267550.2(TTN):c.77295A>G (p.Glu25765=)
|
rs879121881
|
0.00001
|
|
NM_001267550.2(TTN):c.77382G>A (p.Leu25794=)
|
rs1553599772
|
0.00001
|
|
NM_001267550.2(TTN):c.77406T>A (p.Pro25802=)
|
rs760571970
|
0.00001
|
|
NM_001267550.2(TTN):c.7758A>G (p.Ile2586Met)
|
rs556000493
|
0.00001
|
|
NM_001267550.2(TTN):c.77604T>C (p.Tyr25868=)
|
rs752137856
|
0.00001
|
|
NM_001267550.2(TTN):c.77649C>T (p.Ile25883=)
|
rs747430905
|
0.00001
|
|
NM_001267550.2(TTN):c.77679T>A (p.Pro25893=)
|
rs754965979
|
0.00001
|
|
NM_001267550.2(TTN):c.7779T>C (p.Asn2593=)
|
rs776560501
|
0.00001
|
|
NM_001267550.2(TTN):c.77811A>G (p.Val25937=)
|
rs1706741321
|
0.00001
|
|
NM_001267550.2(TTN):c.77838T>C (p.Ala25946=)
|
rs760001425
|
0.00001
|
|
NM_001267550.2(TTN):c.77863C>T (p.Leu25955=)
|
rs1243165726
|
0.00001
|
|
NM_001267550.2(TTN):c.77901C>T (p.Ala25967=)
|
rs531679006
|
0.00001
|
|
NM_001267550.2(TTN):c.78000A>G (p.Thr26000=)
|
rs1178033234
|
0.00001
|
|
NM_001267550.2(TTN):c.78051T>C (p.Asn26017=)
|
rs758905508
|
0.00001
|
|
NM_001267550.2(TTN):c.78138T>C (p.His26046=)
|
rs896653681
|
0.00001
|
|
NM_001267550.2(TTN):c.78213T>C (p.Val26071=)
|
rs879161666
|
0.00001
|
|
NM_001267550.2(TTN):c.78270C>T (p.Asp26090=)
|
rs1048653371
|
0.00001
|
|
NM_001267550.2(TTN):c.78276A>G (p.Pro26092=)
|
rs779618019
|
0.00001
|
|
NM_001267550.2(TTN):c.78345T>C (p.Asp26115=)
|
rs1366813483
|
0.00001
|
|
NM_001267550.2(TTN):c.78369C>T (p.Tyr26123=)
|
rs1267698127
|
0.00001
|
|
NM_001267550.2(TTN):c.78372T>C (p.Ile26124=)
|
rs886044461
|
0.00001
|
|
NM_001267550.2(TTN):c.78462T>C (p.Thr26154=)
|
rs1359190189
|
0.00001
|
|
NM_001267550.2(TTN):c.78504A>C (p.Ala26168=)
|
rs1185661073
|
0.00001
|
|
NM_001267550.2(TTN):c.7855+11T>G
|
rs750091311
|
0.00001
|
|
NM_001267550.2(TTN):c.78654T>C (p.His26218=)
|
rs886055244
|
0.00001
|
|
NM_001267550.2(TTN):c.78810T>C (p.Asn26270=)
|
rs1301545890
|
0.00001
|
|
NM_001267550.2(TTN):c.78921A>G (p.Thr26307=)
|
rs761130018
|
0.00001
|
|
NM_001267550.2(TTN):c.79005T>C (p.Thr26335=)
|
rs1575691834
|
0.00001
|
|
NM_001267550.2(TTN):c.7902C>T (p.Ser2634=)
|
rs1553997365
|
0.00001
|
|
NM_001267550.2(TTN):c.79122A>G (p.Glu26374=)
|
rs727504497
|
0.00001
|
|
NM_001267550.2(TTN):c.79368G>A (p.Glu26456=)
|
rs759135684
|
0.00001
|
|
NM_001267550.2(TTN):c.79416A>G (p.Pro26472=)
|
rs1173305141
|
0.00001
|
|
NM_001267550.2(TTN):c.79518T>C (p.Leu26506=)
|
rs367608273
|
0.00001
|
|
NM_001267550.2(TTN):c.79527T>C (p.Gly26509=)
|
rs919657135
|
0.00001
|
|
NM_001267550.2(TTN):c.79557C>A (p.Ile26519=)
|
rs1286599929
|
0.00001
|
|
NM_001267550.2(TTN):c.79596A>G (p.Glu26532=)
|
rs1553588874
|
0.00001
|
|
NM_001267550.2(TTN):c.795C>T (p.Ser265=)
|
rs780802517
|
0.00001
|
|
NM_001267550.2(TTN):c.7962G>A (p.Arg2654=)
|
rs1422023102
|
0.00001
|
|
NM_001267550.2(TTN):c.79686A>C (p.Arg26562=)
|
rs566765001
|
0.00001
|
|
NM_001267550.2(TTN):c.79728A>C (p.Ser26576=)
|
rs760955443
|
0.00001
|
|
NM_001267550.2(TTN):c.79755T>C (p.Asp26585=)
|
rs1189927516
|
0.00001
|
|
NM_001267550.2(TTN):c.79818T>A (p.Ala26606=)
|
rs1353783761
|
0.00001
|
|
NM_001267550.2(TTN):c.79917T>A (p.Ile26639=)
|
rs1705776785
|
0.00001
|
|
NM_001267550.2(TTN):c.79944A>T (p.Leu26648=)
|
rs72648209
|
0.00001
|
|
NM_001267550.2(TTN):c.80019T>G (p.Ser26673=)
|
rs1347649738
|
0.00001
|
|
NM_001267550.2(TTN):c.80055A>T (p.Gly26685=)
|
rs1412677806
|
0.00001
|
|
NM_001267550.2(TTN):c.8013C>A (p.Gly2671=)
|
rs369439944
|
0.00001
|
|
NM_001267550.2(TTN):c.80145C>G (p.Val26715=)
|
rs761074887
|
0.00001
|
|
NM_001267550.2(TTN):c.80190T>C (p.Tyr26730=)
|
rs1060503950
|
0.00001
|
|
NM_001267550.2(TTN):c.80301T>C (p.Val26767=)
|
rs374305386
|
0.00001
|
|
NM_001267550.2(TTN):c.80334T>C (p.Ala26778=)
|
rs768739882
|
0.00001
|
|
NM_001267550.2(TTN):c.80391A>C (p.Ala26797=)
|
rs756584357
|
0.00001
|
|
NM_001267550.2(TTN):c.80445C>T (p.Tyr26815=)
|
rs759414143
|
0.00001
|
|
NM_001267550.2(TTN):c.80508T>C (p.Cys26836=)
|
rs756970012
|
0.00001
|
|
NM_001267550.2(TTN):c.80568T>C (p.Tyr26856=)
|
rs769878576
|
0.00001
|
|
NM_001267550.2(TTN):c.80730C>T (p.Asn26910=)
|
rs1329763047
|
0.00001
|
|
NM_001267550.2(TTN):c.8073C>T (p.Tyr2691=)
|
rs1204725250
|
0.00001
|
|
NM_001267550.2(TTN):c.80781C>T (p.Asn26927=)
|
rs747688310
|
0.00001
|
|
NM_001267550.2(TTN):c.80809T>C (p.Leu26937=)
|
rs1291471382
|
0.00001
|
|
NM_001267550.2(TTN):c.80817T>C (p.Ile26939=)
|
rs758285371
|
0.00001
|
|
NM_001267550.2(TTN):c.80826T>G (p.Gly26942=)
|
rs764386833
|
0.00001
|
|
NM_001267550.2(TTN):c.80841T>C (p.Phe26947=)
|
rs1015506783
|
0.00001
|
|
NM_001267550.2(TTN):c.80871T>C (p.Ser26957=)
|
rs1486693320
|
0.00001
|
|
NM_001267550.2(TTN):c.80904C>T (p.Ile26968=)
|
rs539234338
|
0.00001
|
|
NM_001267550.2(TTN):c.81009C>T (p.Cys27003=)
|
rs1271620983
|
0.00001
|
|
NM_001267550.2(TTN):c.81045A>G (p.Thr27015=)
|
rs771728186
|
0.00001
|
|
NM_001267550.2(TTN):c.81078A>C (p.Thr27026=)
|
rs1331313267
|
0.00001
|
|
NM_001267550.2(TTN):c.81168T>C (p.Ser27056=)
|
rs767101518
|
0.00001
|
|
NM_001267550.2(TTN):c.8117-9T>C
|
rs777900623
|
0.00001
|
|
NM_001267550.2(TTN):c.81321C>T (p.Tyr27107=)
|
rs557312035
|
0.00001
|
|
NM_001267550.2(TTN):c.81369T>C (p.Asn27123=)
|
rs1421636845
|
0.00001
|
|
NM_001267550.2(TTN):c.81375C>T (p.Thr27125=)
|
rs1705054731
|
0.00001
|
|
NM_001267550.2(TTN):c.81384G>A (p.Gln27128=)
|
rs377058846
|
0.00001
|
|
NM_001267550.2(TTN):c.81615T>C (p.Tyr27205=)
|
rs1486785221
|
0.00001
|
|
NM_001267550.2(TTN):c.81723T>C (p.Tyr27241=)
|
rs769821404
|
0.00001
|
|
NM_001267550.2(TTN):c.81777T>C (p.Asp27259=)
|
rs1438778988
|
0.00001
|
|
NM_001267550.2(TTN):c.81792T>C (p.Ile27264=)
|
rs754850872
|
0.00001
|
|
NM_001267550.2(TTN):c.81948T>C (p.Leu27316=)
|
rs886039026
|
0.00001
|
|
NM_001267550.2(TTN):c.82077T>G (p.Ser27359=)
|
rs1422013634
|
0.00001
|
|
NM_001267550.2(TTN):c.82359A>C (p.Gly27453=)
|
rs1378227360
|
0.00001
|
|
NM_001267550.2(TTN):c.82386G>A (p.Thr27462=)
|
rs773950138
|
0.00001
|
|
NM_001267550.2(TTN):c.82542T>C (p.Val27514=)
|
rs779510131
|
0.00001
|
|
NM_001267550.2(TTN):c.82587C>T (p.Leu27529=)
|
rs761584941
|
0.00001
|
|
NM_001267550.2(TTN):c.82626C>T (p.Phe27542=)
|
rs778332673
|
0.00001
|
|
NM_001267550.2(TTN):c.82641A>G (p.Glu27547=)
|
rs372153745
|
0.00001
|
|
NM_001267550.2(TTN):c.82710A>G (p.Pro27570=)
|
rs770975467
|
0.00001
|
|
NM_001267550.2(TTN):c.82746T>C (p.Thr27582=)
|
rs950891059
|
0.00001
|
|
NM_001267550.2(TTN):c.82764C>T (p.Ser27588=)
|
rs1444219267
|
0.00001
|
|
NM_001267550.2(TTN):c.8292G>A (p.Leu2764=)
|
rs727503687
|
0.00001
|
|
NM_001267550.2(TTN):c.83049G>A (p.Lys27683=)
|
rs373522006
|
0.00001
|
|
NM_001267550.2(TTN):c.83082C>T (p.Arg27694=)
|
rs1250189831
|
0.00001
|
|
NM_001267550.2(TTN):c.83139A>G (p.Glu27713=)
|
rs779302196
|
0.00001
|
|
NM_001267550.2(TTN):c.83253T>C (p.Asn27751=)
|
rs772084217
|
0.00001
|
|
NM_001267550.2(TTN):c.83277T>C (p.Val27759=)
|
rs1341739001
|
0.00001
|
|
NM_001267550.2(TTN):c.83343C>T (p.Asp27781=)
|
rs878945174
|
0.00001
|
|
NM_001267550.2(TTN):c.83352G>A (p.Thr27784=)
|
rs781312539
|
0.00001
|
|
NM_001267550.2(TTN):c.83409C>T (p.Val27803=)
|
rs767194702
|
0.00001
|
|
NM_001267550.2(TTN):c.83439T>C (p.Tyr27813=)
|
rs569816178
|
0.00001
|
|
NM_001267550.2(TTN):c.83742A>G (p.Thr27914=)
|
rs778220693
|
0.00001
|
|
NM_001267550.2(TTN):c.83766T>C (p.Thr27922=)
|
rs757873540
|
0.00001
|
|
NM_001267550.2(TTN):c.83772T>C (p.Ser27924=)
|
rs1553567764
|
0.00001
|
|
NM_001267550.2(TTN):c.83793G>A (p.Glu27931=)
|
rs767740501
|
0.00001
|
|
NM_001267550.2(TTN):c.8381-9T>C
|
rs1026517147
|
0.00001
|
|
NM_001267550.2(TTN):c.83919T>C (p.Asn27973=)
|
rs777656348
|
0.00001
|
|
NM_001267550.2(TTN):c.83979T>C (p.Thr27993=)
|
rs755164013
|
0.00001
|
|
NM_001267550.2(TTN):c.83985C>T (p.Asn27995=)
|
rs766611189
|
0.00001
|
|
NM_001267550.2(TTN):c.83997T>C (p.Asp27999=)
|
rs182917459
|
0.00001
|
|
NM_001267550.2(TTN):c.84099T>C (p.Tyr28033=)
|
rs762450131
|
0.00001
|
|
NM_001267550.2(TTN):c.8418C>T (p.Ala2806=)
|
rs766197743
|
0.00001
|
|
NM_001267550.2(TTN):c.84225T>C (p.Ser28075=)
|
rs753003337
|
0.00001
|
|
NM_001267550.2(TTN):c.84243T>C (p.Tyr28081=)
|
rs374784036
|
0.00001
|
|
NM_001267550.2(TTN):c.84246T>C (p.Asp28082=)
|
rs766028032
|
0.00001
|
|
NM_001267550.2(TTN):c.84267T>C (p.Asn28089=)
|
rs1275689048
|
0.00001
|
|
NM_001267550.2(TTN):c.84291C>T (p.Thr28097=)
|
rs771977876
|
0.00001
|
|
NM_001267550.2(TTN):c.84372G>A (p.Glu28124=)
|
rs775934532
|
0.00001
|
|
NM_001267550.2(TTN):c.84375T>C (p.Tyr28125=)
|
rs889277495
|
0.00001
|
|
NM_001267550.2(TTN):c.84414C>T (p.Ser28138=)
|
rs965406205
|
0.00001
|
|
NM_001267550.2(TTN):c.84492G>A (p.Val28164=)
|
rs767513604
|
0.00001
|
|
NM_001267550.2(TTN):c.84573T>C (p.Leu28191=)
|
rs763144981
|
0.00001
|
|
NM_001267550.2(TTN):c.84591C>T (p.Ser28197=)
|
rs781670887
|
0.00001
|
|
NM_001267550.2(TTN):c.84657T>C (p.Leu28219=)
|
rs1703637065
|
0.00001
|
|
NM_001267550.2(TTN):c.84693T>C (p.Ala28231=)
|
rs1463900936
|
0.00001
|
|
NM_001267550.2(TTN):c.84696A>C (p.Glu28232Asp)
|
rs397517730
|
0.00001
|
|
NM_001267550.2(TTN):c.84729T>G (p.Ser28243=)
|
rs777582284
|
0.00001
|
|
NM_001267550.2(TTN):c.84741C>A (p.Val28247=)
|
rs752395100
|
0.00001
|
|
NM_001267550.2(TTN):c.84900G>A (p.Leu28300=)
|
rs1240509020
|
0.00001
|
|
NM_001267550.2(TTN):c.84990G>A (p.Arg28330=)
|
rs746633956
|
0.00001
|
|
NM_001267550.2(TTN):c.85008T>C (p.Val28336=)
|
rs566582429
|
0.00001
|
|
NM_001267550.2(TTN):c.85017A>G (p.Pro28339=)
|
rs748836886
|
0.00001
|
|
NM_001267550.2(TTN):c.85032G>A (p.Gly28344=)
|
rs1244058387
|
0.00001
|
|
NM_001267550.2(TTN):c.85053T>C (p.Asp28351=)
|
rs756426672
|
0.00001
|
|
NM_001267550.2(TTN):c.85068A>G (p.Arg28356=)
|
rs759660682
|
0.00001
|
|
NM_001267550.2(TTN):c.85191A>G (p.Glu28397=)
|
rs1471797849
|
0.00001
|
|
NM_001267550.2(TTN):c.85242G>A (p.Leu28414=)
|
rs1222098369
|
0.00001
|
|
NM_001267550.2(TTN):c.852G>T (p.Ser284=)
|
rs768340304
|
0.00001
|
|
NM_001267550.2(TTN):c.85326C>T (p.Ala28442=)
|
rs765915556
|
0.00001
|
|
NM_001267550.2(TTN):c.85383T>C (p.Asn28461=)
|
rs886055235
|
0.00001
|
|
NM_001267550.2(TTN):c.85488T>C (p.Leu28496=)
|
rs778202815
|
0.00001
|
|
NM_001267550.2(TTN):c.85599T>G (p.Val28533=)
|
rs1553562779
|
0.00001
|
|
NM_001267550.2(TTN):c.85731T>C (p.Asp28577=)
|
rs1575612281
|
0.00001
|
|
NM_001267550.2(TTN):c.85746A>C (p.Ile28582=)
|
rs771116739
|
0.00001
|
|
NM_001267550.2(TTN):c.85768C>A (p.Arg28590=)
|
rs748689777
|
0.00001
|
|
NM_001267550.2(TTN):c.85779T>C (p.Asn28593=)
|
rs1366817302
|
0.00001
|
|
NM_001267550.2(TTN):c.85797T>G (p.Arg28599=)
|
rs1479771122
|
0.00001
|
|
NM_001267550.2(TTN):c.85827A>G (p.Arg28609=)
|
rs371952669
|
0.00001
|
|
NM_001267550.2(TTN):c.85944A>G (p.Pro28648=)
|
rs1332707257
|
0.00001
|
|
NM_001267550.2(TTN):c.85953A>G (p.Leu28651=)
|
rs546573613
|
0.00001
|
|
NM_001267550.2(TTN):c.86040G>C (p.Gly28680=)
|
rs764077128
|
0.00001
|
|
NM_001267550.2(TTN):c.86043C>A (p.Ala28681=)
|
rs931824826
|
0.00001
|
|
NM_001267550.2(TTN):c.86085C>T (p.Asp28695=)
|
rs773001228
|
0.00001
|
|
NM_001267550.2(TTN):c.8611T>C (p.Leu2871=)
|
rs2091251735
|
0.00001
|
|
NM_001267550.2(TTN):c.86139C>T (p.Ser28713=)
|
rs750163793
|
0.00001
|
|
NM_001267550.2(TTN):c.86259A>G (p.Leu28753=)
|
rs886055233
|
0.00001
|
|
NM_001267550.2(TTN):c.864C>T (p.His288=)
|
rs772543040
|
0.00001
|
|
NM_001267550.2(TTN):c.86511C>T (p.Thr28837=)
|
rs1455136677
|
0.00001
|
|
NM_001267550.2(TTN):c.86512T>C (p.Leu28838=)
|
rs765570651
|
0.00001
|
|
NM_001267550.2(TTN):c.86535C>T (p.Thr28845=)
|
rs767091592
|
0.00001
|
|
NM_001267550.2(TTN):c.8655A>T (p.Thr2885=)
|
rs1473922604
|
0.00001
|
|
NM_001267550.2(TTN):c.86616T>C (p.Asp28872=)
|
rs552702894
|
0.00001
|
|
NM_001267550.2(TTN):c.86739T>C (p.Ala28913=)
|
rs753808459
|
0.00001
|
|
NM_001267550.2(TTN):c.86769T>C (p.Asn28923=)
|
rs1438107682
|
0.00001
|
|
NM_001267550.2(TTN):c.86787A>T (p.Ile28929=)
|
rs759663708
|
0.00001
|
|
NM_001267550.2(TTN):c.8679G>T (p.Val2893=)
|
rs1574561314
|
0.00001
|
|
NM_001267550.2(TTN):c.86883G>A (p.Leu28961=)
|
rs1484822645
|
0.00001
|
|
NM_001267550.2(TTN):c.86934C>T (p.Val28978=)
|
rs531340219
|
0.00001
|
|
NM_001267550.2(TTN):c.86970T>C (p.Val28990=)
|
rs1477582027
|
0.00001
|
|
NM_001267550.2(TTN):c.87000C>T (p.His29000=)
|
rs758683372
|
0.00001
|
|
NM_001267550.2(TTN):c.87003T>A (p.Val29001=)
|
rs371894087
|
0.00001
|
|
NM_001267550.2(TTN):c.87078G>A (p.Pro29026=)
|
rs772691207
|
0.00001
|
|
NM_001267550.2(TTN):c.87081A>G (p.Arg29027=)
|
rs886042694
|
0.00001
|
|
NM_001267550.2(TTN):c.87119-12C>T
|
rs1057518267
|
0.00001
|
|
NM_001267550.2(TTN):c.87183C>T (p.Asn29061=)
|
rs372776235
|
0.00001
|
|
NM_001267550.2(TTN):c.87232T>C (p.Leu29078=)
|
rs745309117
|
0.00001
|
|
NM_001267550.2(TTN):c.87279C>T (p.Thr29093=)
|
rs769998192
|
0.00001
|
|
NM_001267550.2(TTN):c.87333C>T (p.Asp29111=)
|
rs773566203
|
0.00001
|
|
NM_001267550.2(TTN):c.87345T>C (p.Tyr29115=)
|
rs369444690
|
0.00001
|
|
NM_001267550.2(TTN):c.87351C>A (p.Ile29117=)
|
rs752271681
|
0.00001
|
|
NM_001267550.2(TTN):c.87366C>A (p.Ser29122=)
|
rs1372807203
|
0.00001
|
|
NM_001267550.2(TTN):c.87399T>C (p.Val29133=)
|
rs1002864801
|
0.00001
|
|
NM_001267550.2(TTN):c.87453T>A (p.Thr29151=)
|
rs755805590
|
0.00001
|
|
NM_001267550.2(TTN):c.87600G>C (p.Met29200Ile)
|
rs750362675
|
0.00001
|
|
NM_001267550.2(TTN):c.87660C>T (p.Ile29220=)
|
rs777982415
|
0.00001
|
|
NM_001267550.2(TTN):c.87663T>C (p.Ser29221=)
|
rs397517737
|
0.00001
|
|
NM_001267550.2(TTN):c.87707-7T>C
|
rs1380096448
|
0.00001
|
|
NM_001267550.2(TTN):c.87807C>T (p.Val29269=)
|
rs767666156
|
0.00001
|
|
NM_001267550.2(TTN):c.87924T>C (p.Tyr29308=)
|
rs1484500314
|
0.00001
|
|
NM_001267550.2(TTN):c.87939T>C (p.Tyr29313=)
|
rs200314496
|
0.00001
|
|
NM_001267550.2(TTN):c.88152G>A (p.Lys29384=)
|
rs1206935877
|
0.00001
|
|
NM_001267550.2(TTN):c.88194T>G (p.Ser29398=)
|
rs1701745219
|
0.00001
|
|
NM_001267550.2(TTN):c.88296C>T (p.Ile29432=)
|
rs370287542
|
0.00001
|
|
NM_001267550.2(TTN):c.88306+20T>C
|
rs1028934147
|
0.00001
|
|
NM_001267550.2(TTN):c.88307-15C>T
|
rs727505307
|
0.00001
|
|
NM_001267550.2(TTN):c.88307-4G>A
|
rs1172705555
|
0.00001
|
|
NM_001267550.2(TTN):c.88368A>C (p.Thr29456=)
|
rs1433276032
|
0.00001
|
|
NM_001267550.2(TTN):c.8847A>G (p.Ala2949=)
|
rs1324642859
|
0.00001
|
|
NM_001267550.2(TTN):c.88563A>G (p.Ser29521=)
|
rs368216168
|
0.00001
|
|
NM_001267550.2(TTN):c.88581A>G (p.Arg29527=)
|
rs769529924
|
0.00001
|
|
NM_001267550.2(TTN):c.88704C>T (p.His29568=)
|
rs370093328
|
0.00001
|
|
NM_001267550.2(TTN):c.88755T>C (p.Ser29585=)
|
rs1424674055
|
0.00001
|
|
NM_001267550.2(TTN):c.88761T>C (p.His29587=)
|
rs1332136041
|
0.00001
|
|
NM_001267550.2(TTN):c.88779T>A (p.Ile29593=)
|
rs1331442107
|
0.00001
|
|
NM_001267550.2(TTN):c.88830C>T (p.Ala29610=)
|
rs750893192
|
0.00001
|
|
NM_001267550.2(TTN):c.88872C>T (p.Ser29624=)
|
rs374983712
|
0.00001
|
|
NM_001267550.2(TTN):c.88887C>T (p.Asn29629=)
|
rs759136146
|
0.00001
|
|
NM_001267550.2(TTN):c.8889C>A (p.Thr2963=)
|
rs1060503963
|
0.00001
|
|
NM_001267550.2(TTN):c.88947G>A (p.Ser29649=)
|
rs912193120
|
0.00001
|
|
NM_001267550.2(TTN):c.88966A>C (p.Arg29656=)
|
rs191512427
|
0.00001
|
|
NM_001267550.2(TTN):c.88968G>A (p.Arg29656=)
|
rs1407944964
|
0.00001
|
|
NM_001267550.2(TTN):c.88983C>T (p.Gly29661=)
|
rs371678936
|
0.00001
|
|
NM_001267550.2(TTN):c.88992T>C (p.Asp29664=)
|
rs201658018
|
0.00001
|
|
NM_001267550.2(TTN):c.8902+18T>A
|
rs1057520411
|
0.00001
|
|
NM_001267550.2(TTN):c.89034A>G (p.Leu29678=)
|
rs759871787
|
0.00001
|
|
NM_001267550.2(TTN):c.89379A>G (p.Thr29793=)
|
rs767935383
|
0.00001
|
|
NM_001267550.2(TTN):c.89503+7A>G
|
rs746577107
|
0.00001
|
|
NM_001267550.2(TTN):c.89616A>G (p.Thr29872=)
|
rs777509175
|
0.00001
|
|
NM_001267550.2(TTN):c.89676T>C (p.Asp29892=)
|
rs750859239
|
0.00001
|
|
NM_001267550.2(TTN):c.89721A>G (p.Thr29907=)
|
rs773008865
|
0.00001
|
|
NM_001267550.2(TTN):c.89748T>C (p.Asn29916=)
|
rs776857075
|
0.00001
|
|
NM_001267550.2(TTN):c.89778G>A (p.Val29926=)
|
rs371342816
|
0.00001
|
|
NM_001267550.2(TTN):c.89835T>G (p.Val29945=)
|
rs1700026058
|
0.00001
|
|
NM_001267550.2(TTN):c.89868T>C (p.Pro29956=)
|
rs781495722
|
0.00001
|
|
NM_001267550.2(TTN):c.89892A>T (p.Pro29964=)
|
rs1057523342
|
0.00001
|
|
NM_001267550.2(TTN):c.89907C>A (p.Val29969=)
|
rs72648241
|
0.00001
|
|
NM_001267550.2(TTN):c.90012C>T (p.Phe30004=)
|
rs1193053542
|
0.00001
|
|
NM_001267550.2(TTN):c.90054C>T (p.Pro30018=)
|
rs759755771
|
0.00001
|
|
NM_001267550.2(TTN):c.9006A>G (p.Leu3002=)
|
rs1390008829
|
0.00001
|
|
NM_001267550.2(TTN):c.90075G>A (p.Val30025=)
|
rs1161233801
|
0.00001
|
|
NM_001267550.2(TTN):c.900C>A (p.Thr300=)
|
rs764221189
|
0.00001
|
|
NM_001267550.2(TTN):c.90102A>T (p.Ile30034=)
|
rs1194863349
|
0.00001
|
|
NM_001267550.2(TTN):c.90171T>C (p.Asp30057=)
|
rs774509104
|
0.00001
|
|
NM_001267550.2(TTN):c.90195T>C (p.Tyr30065=)
|
rs920201335
|
0.00001
|
|
NM_001267550.2(TTN):c.90264T>C (p.Ile30088=)
|
rs1238844529
|
0.00001
|
|
NM_001267550.2(TTN):c.9042C>T (p.Cys3014=)
|
rs757883471
|
0.00001
|
|
NM_001267550.2(TTN):c.90477C>T (p.Pro30159=)
|
rs764570458
|
0.00001
|
|
NM_001267550.2(TTN):c.90516G>C (p.Leu30172=)
|
rs962890298
|
0.00001
|
|
NM_001267550.2(TTN):c.90780C>T (p.Tyr30260=)
|
rs771892886
|
0.00001
|
|
NM_001267550.2(TTN):c.90849T>C (p.Thr30283=)
|
rs891394797
|
0.00001
|
|
NM_001267550.2(TTN):c.90864T>C (p.Asn30288=)
|
rs1400926434
|
0.00001
|
|
NM_001267550.2(TTN):c.90921C>T (p.Val30307=)
|
rs1290553839
|
0.00001
|
|
NM_001267550.2(TTN):c.91053T>C (p.Asp30351=)
|
rs769390930
|
0.00001
|
|
NM_001267550.2(TTN):c.9105T>G (p.Ala3035=)
|
rs1304179435
|
0.00001
|
|
NM_001267550.2(TTN):c.91065A>G (p.Glu30355=)
|
rs1057520905
|
0.00001
|
|
NM_001267550.2(TTN):c.9108T>C (p.Ala3036=)
|
rs886044544
|
0.00001
|
|
NM_001267550.2(TTN):c.91125T>C (p.Asn30375=)
|
rs772726653
|
0.00001
|
|
NM_001267550.2(TTN):c.91218C>T (p.Gly30406=)
|
rs749651870
|
0.00001
|
|
NM_001267550.2(TTN):c.91224C>T (p.Ser30408=)
|
rs1057522835
|
0.00001
|
|
NM_001267550.2(TTN):c.91344T>C (p.Arg30448=)
|
rs1060503927
|
0.00001
|
|
NM_001267550.2(TTN):c.91371T>C (p.Tyr30457=)
|
rs1228799485
|
0.00001
|
|
NM_001267550.2(TTN):c.91521G>A (p.Pro30507=)
|
rs770698629
|
0.00001
|
|
NM_001267550.2(TTN):c.91524C>G (p.Pro30508=)
|
rs762592354
|
0.00001
|
|
NM_001267550.2(TTN):c.91533T>G (p.Ser30511=)
|
rs772824909
|
0.00001
|
|
NM_001267550.2(TTN):c.91626G>A (p.Glu30542=)
|
rs761453557
|
0.00001
|
|
NM_001267550.2(TTN):c.9163+17A>G
|
rs1223619094
|
0.00001
|
|
NM_001267550.2(TTN):c.91632T>G (p.Leu30544=)
|
rs909346656
|
0.00001
|
|
NM_001267550.2(TTN):c.91645T>C (p.Leu30549=)
|
rs1698784346
|
0.00001
|
|
NM_001267550.2(TTN):c.91674A>C (p.Val30558=)
|
rs946238655
|
0.00001
|
|
NM_001267550.2(TTN):c.91728C>T (p.Thr30576=)
|
rs748596900
|
0.00001
|
|
NM_001267550.2(TTN):c.91878A>T (p.Pro30626=)
|
rs879211202
|
0.00001
|
|
NM_001267550.2(TTN):c.91899T>C (p.Thr30633=)
|
rs1698609403
|
0.00001
|
|
NM_001267550.2(TTN):c.918C>T (p.Ser306=)
|
rs773898647
|
0.00001
|
|
NM_001267550.2(TTN):c.91902G>A (p.Gly30634=)
|
rs1396806455
|
0.00001
|
|
NM_001267550.2(TTN):c.91935C>G (p.Leu30645=)
|
rs1060503947
|
0.00001
|
|
NM_001267550.2(TTN):c.92007A>C (p.Leu30669=)
|
rs983586137
|
0.00001
|
|
NM_001267550.2(TTN):c.92058C>T (p.Asn30686=)
|
rs545632095
|
0.00001
|
|
NM_001267550.2(TTN):c.92163T>C (p.Asp30721=)
|
rs1246630590
|
0.00001
|
|
NM_001267550.2(TTN):c.92226G>A (p.Arg30742=)
|
rs759484932
|
0.00001
|
|
NM_001267550.2(TTN):c.92262T>C (p.Tyr30754=)
|
rs1212338157
|
0.00001
|
|
NM_001267550.2(TTN):c.92349T>C (p.Thr30783=)
|
rs548756476
|
0.00001
|
|
NM_001267550.2(TTN):c.92385C>A (p.Val30795=)
|
rs376597397
|
0.00001
|
|
NM_001267550.2(TTN):c.92493A>G (p.Thr30831=)
|
rs569803137
|
0.00001
|
|
NM_001267550.2(TTN):c.92694T>C (p.Ala30898=)
|
rs760506340
|
0.00001
|
|
NM_001267550.2(TTN):c.92700T>C (p.Asn30900=)
|
rs943855215
|
0.00001
|
|
NM_001267550.2(TTN):c.92718C>T (p.Asp30906=)
|
rs749379446
|
0.00001
|
|
NM_001267550.2(TTN):c.92868A>T (p.Thr30956=)
|
rs1000250632
|
0.00001
|
|
NM_001267550.2(TTN):c.92934C>T (p.Phe30978=)
|
rs769177976
|
0.00001
|
|
NM_001267550.2(TTN):c.92979A>G (p.Lys30993=)
|
rs754893239
|
0.00001
|
|
NM_001267550.2(TTN):c.93030C>T (p.Thr31010=)
|
rs764535070
|
0.00001
|
|
NM_001267550.2(TTN):c.9306-8A>T
|
rs745630247
|
0.00001
|
|
NM_001267550.2(TTN):c.93264C>T (p.Phe31088=)
|
rs751923958
|
0.00001
|
|
NM_001267550.2(TTN):c.93270T>C (p.Val31090=)
|
rs533233569
|
0.00001
|
|
NM_001267550.2(TTN):c.93288T>C (p.Tyr31096=)
|
rs1280272876
|
0.00001
|
|
NM_001267550.2(TTN):c.9330T>C (p.Tyr3110=)
|
rs767819850
|
0.00001
|
|
NM_001267550.2(TTN):c.93543A>G (p.Glu31181=)
|
rs1358160212
|
0.00001
|
|
NM_001267550.2(TTN):c.93549A>G (p.Glu31183=)
|
rs1341690813
|
0.00001
|
|
NM_001267550.2(TTN):c.9354C>T (p.Ser3118=)
|
rs1369897789
|
0.00001
|
|
NM_001267550.2(TTN):c.93567G>A (p.Lys31189=)
|
rs772663685
|
0.00001
|
|
NM_001267550.2(TTN):c.93573T>C (p.Asp31191=)
|
rs965506398
|
0.00001
|
|
NM_001267550.2(TTN):c.93576T>C (p.Ala31192=)
|
rs377521708
|
0.00001
|
|
NM_001267550.2(TTN):c.93603C>T (p.Phe31201=)
|
rs765759269
|
0.00001
|
|
NM_001267550.2(TTN):c.93609T>C (p.Ser31203=)
|
rs373876522
|
0.00001
|
|
NM_001267550.2(TTN):c.93633C>T (p.Ile31211=)
|
rs1362462843
|
0.00001
|
|
NM_001267550.2(TTN):c.93735C>G (p.Pro31245=)
|
rs1697864721
|
0.00001
|
|
NM_001267550.2(TTN):c.93906A>C (p.Thr31302=)
|
rs1697802567
|
0.00001
|
|
NM_001267550.2(TTN):c.93963C>G (p.Val31321=)
|
rs1194888653
|
0.00001
|
|
NM_001267550.2(TTN):c.93972A>G (p.Glu31324=)
|
rs727504528
|
0.00001
|
|
NM_001267550.2(TTN):c.93991G>A (p.Gly31331Arg)
|
rs377660595
|
0.00001
|
|
NM_001267550.2(TTN):c.94017T>C (p.Thr31339=)
|
rs750473201
|
0.00001
|
|
NM_001267550.2(TTN):c.94020A>G (p.Glu31340=)
|
rs547439339
|
0.00001
|
|
NM_001267550.2(TTN):c.94053G>A (p.Ser31351=)
|
rs777229309
|
0.00001
|
|
NM_001267550.2(TTN):c.9420C>G (p.Leu3140=)
|
rs376571708
|
0.00001
|
|
NM_001267550.2(TTN):c.94219+11T>C
|
rs1184310421
|
0.00001
|
|
NM_001267550.2(TTN):c.94220-6A>G
|
rs376900895
|
0.00001
|
|
NM_001267550.2(TTN):c.94260G>A (p.Val31420=)
|
rs371477954
|
0.00001
|
|
NM_001267550.2(TTN):c.94368G>A (p.Val31456=)
|
rs753472818
|
0.00001
|
|
NM_001267550.2(TTN):c.94509T>C (p.Ala31503=)
|
rs1407341819
|
0.00001
|
|
NM_001267550.2(TTN):c.94534A>C (p.Arg31512=)
|
rs1247100769
|
0.00001
|
|
NM_001267550.2(TTN):c.9453T>C (p.Ser3151=)
|
rs879041803
|
0.00001
|
|
NM_001267550.2(TTN):c.94590A>G (p.Pro31530=)
|
rs558347312
|
0.00001
|
|
NM_001267550.2(TTN):c.94599T>C (p.Asp31533=)
|
rs764363274
|
0.00001
|
|
NM_001267550.2(TTN):c.94611G>A (p.Lys31537=)
|
rs1163088822
|
0.00001
|
|
NM_001267550.2(TTN):c.94620C>A (p.Gly31540=)
|
rs746325775
|
0.00001
|
|
NM_001267550.2(TTN):c.9468T>A (p.Val3156=)
|
rs879192388
|
0.00001
|
|
NM_001267550.2(TTN):c.9471+15C>T
|
rs1430805006
|
0.00001
|
|
NM_001267550.2(TTN):c.94737T>A (p.Thr31579=)
|
rs550130914
|
0.00001
|
|
NM_001267550.2(TTN):c.94740T>C (p.Tyr31580=)
|
rs1359929309
|
0.00001
|
|
NM_001267550.2(TTN):c.94764T>C (p.Asn31588=)
|
rs1403181534
|
0.00001
|
|
NM_001267550.2(TTN):c.94779T>A (p.Ile31593=)
|
rs1697301679
|
0.00001
|
|
NM_001267550.2(TTN):c.94794A>G (p.Glu31598=)
|
rs368885714
|
0.00001
|
|
NM_001267550.2(TTN):c.94829-20T>C
|
rs1178304926
|
0.00001
|
|
NM_001267550.2(TTN):c.9486G>A (p.Gln3162=)
|
rs768927616
|
0.00001
|
|
NM_001267550.2(TTN):c.94881C>T (p.Ile31627=)
|
rs766615068
|
0.00001
|
|
NM_001267550.2(TTN):c.95119+14A>G
|
rs1697040513
|
0.00001
|
|
NM_001267550.2(TTN):c.95120-4T>G
|
rs746125479
|
0.00001
|
|
NM_001267550.2(TTN):c.9513T>C (p.Asn3171=)
|
rs373901032
|
0.00001
|
|
NM_001267550.2(TTN):c.9522T>C (p.Asp3174=)
|
rs765763326
|
0.00001
|
|
NM_001267550.2(TTN):c.95232C>T (p.Ile31744=)
|
rs267599026
|
0.00001
|
|
NM_001267550.2(TTN):c.95379T>G (p.Pro31793=)
|
rs878854431
|
0.00001
|
|
NM_001267550.2(TTN):c.95417-7T>C
|
rs1465416438
|
0.00001
|
|
NM_001267550.2(TTN):c.95433C>T (p.Pro31811=)
|
rs780805481
|
0.00001
|
|
NM_001267550.2(TTN):c.95556G>A (p.Leu31852=)
|
rs1335861018
|
0.00001
|
|
NM_001267550.2(TTN):c.9558C>A (p.Ile3186=)
|
rs150569468
|
0.00001
|
|
NM_001267550.2(TTN):c.95652C>T (p.Thr31884=)
|
rs397517762
|
0.00001
|
|
NM_001267550.2(TTN):c.95667T>C (p.Ala31889=)
|
rs773412750
|
0.00001
|
|
NM_001267550.2(TTN):c.95709C>T (p.Cys31903=)
|
rs878961342
|
0.00001
|
|
NM_001267550.2(TTN):c.95722+9C>T
|
rs569437354
|
0.00001
|
|
NM_001267550.2(TTN):c.9576A>G (p.Glu3192=)
|
rs771979221
|
0.00001
|
|
NM_001267550.2(TTN):c.95841A>G (p.Glu31947=)
|
rs370652120
|
0.00001
|
|
NM_001267550.2(TTN):c.95964G>A (p.Val31988=)
|
rs1381333879
|
0.00001
|
|
NM_001267550.2(TTN):c.95982C>T (p.Ser31994=)
|
rs761895710
|
0.00001
|
|
NM_001267550.2(TTN):c.96028+16G>A
|
rs756825006
|
0.00001
|
|
NM_001267550.2(TTN):c.96029-18T>C
|
rs1240720830
|
0.00001
|
|
NM_001267550.2(TTN):c.96060A>G (p.Leu32020=)
|
rs1172164559
|
0.00001
|
|
NM_001267550.2(TTN):c.96311-4T>C
|
rs1553518208
|
0.00001
|
|
NM_001267550.2(TTN):c.96315T>G (p.Thr32105=)
|
rs727503540
|
0.00001
|
|
NM_001267550.2(TTN):c.96336G>T (p.Val32112=)
|
rs964067201
|
0.00001
|
|
NM_001267550.2(TTN):c.96615G>A (p.Val32205=)
|
rs763674509
|
0.00001
|
|
NM_001267550.2(TTN):c.96654T>C (p.Thr32218=)
|
rs774339567
|
0.00001
|
|
NM_001267550.2(TTN):c.96717C>T (p.Leu32239=)
|
rs1317384618
|
0.00001
|
|
NM_001267550.2(TTN):c.96834G>A (p.Arg32278=)
|
rs558927011
|
0.00001
|
|
NM_001267550.2(TTN):c.96837A>C (p.Ala32279=)
|
rs1232489828
|
0.00001
|
|
NM_001267550.2(TTN):c.96978G>A (p.Leu32326=)
|
rs397517765
|
0.00001
|
|
NM_001267550.2(TTN):c.9703+16T>C
|
rs760375182
|
0.00001
|
|
NM_001267550.2(TTN):c.9704-19T>C
|
rs770264515
|
0.00001
|
|
NM_001267550.2(TTN):c.97095C>T (p.Thr32365=)
|
rs765620114
|
0.00001
|
|
NM_001267550.2(TTN):c.97119T>C (p.Asp32373=)
|
rs755958523
|
0.00001
|
|
NM_001267550.2(TTN):c.97141T>C (p.Leu32381=)
|
rs748122990
|
0.00001
|
|
NM_001267550.2(TTN):c.97152T>C (p.Val32384=)
|
rs368018568
|
0.00001
|
|
NM_001267550.2(TTN):c.97155C>T (p.Thr32385=)
|
rs766443861
|
0.00001
|
|
NM_001267550.2(TTN):c.97192+12T>C
|
rs1346344405
|
0.00001
|
|
NM_001267550.2(TTN):c.97193-15T>A
|
rs377523613
|
0.00001
|
|
NM_001267550.2(TTN):c.97194C>T (p.Asp32398=)
|
rs768594716
|
0.00001
|
|
NM_001267550.2(TTN):c.97281C>T (p.Asp32427=)
|
rs879166784
|
0.00001
|
|
NM_001267550.2(TTN):c.97287T>C (p.Gly32429=)
|
rs755666486
|
0.00001
|
|
NM_001267550.2(TTN):c.97294C>T (p.Leu32432=)
|
rs72648267
|
0.00001
|
|
NM_001267550.2(TTN):c.97347C>T (p.Pro32449=)
|
rs753266734
|
0.00001
|
|
NM_001267550.2(TTN):c.97418G>A (p.Arg32473His)
|
rs397517770
|
0.00001
|
|
NM_001267550.2(TTN):c.97419T>C (p.Arg32473=)
|
rs1317447790
|
0.00001
|
|
NM_001267550.2(TTN):c.9741T>C (p.Pro3247=)
|
rs767301504
|
0.00001
|
|
NM_001267550.2(TTN):c.97440C>T (p.Phe32480=)
|
rs537143465
|
0.00001
|
|
NM_001267550.2(TTN):c.97488C>T (p.Ser32496=)
|
rs727504527
|
0.00001
|
|
NM_001267550.2(TTN):c.9750G>A (p.Val3250=)
|
rs1031196954
|
0.00001
|
|
NM_001267550.2(TTN):c.97539T>C (p.Arg32513=)
|
rs754524673
|
0.00001
|
|
NM_001267550.2(TTN):c.97542T>C (p.Asp32514=)
|
rs373909743
|
0.00001
|
|
NM_001267550.2(TTN):c.97742G>T (p.Gly32581Val)
|
rs397517771
|
0.00001
|
|
NM_001267550.2(TTN):c.97776C>T (p.Ile32592=)
|
rs375166890
|
0.00001
|
|
NM_001267550.2(TTN):c.97796-7T>C
|
rs1250582186
|
0.00001
|
|
NM_001267550.2(TTN):c.97926A>T (p.Val32642=)
|
rs766450778
|
0.00001
|
|
NM_001267550.2(TTN):c.97944C>T (p.Thr32648=)
|
rs367773598
|
0.00001
|
|
NM_001267550.2(TTN):c.97974A>G (p.Arg32658=)
|
rs1473079383
|
0.00001
|
|
NM_001267550.2(TTN):c.98130C>T (p.Tyr32710=)
|
rs1057365626
|
0.00001
|
|
NM_001267550.2(TTN):c.98142C>A (p.Ile32714=)
|
rs1412763912
|
0.00001
|
|
NM_001267550.2(TTN):c.98151G>A (p.Arg32717=)
|
rs757402291
|
0.00001
|
|
NM_001267550.2(TTN):c.98160C>T (p.Gly32720=)
|
rs749776301
|
0.00001
|
|
NM_001267550.2(TTN):c.98172T>C (p.Leu32724=)
|
rs72648271
|
0.00001
|
|
NM_001267550.2(TTN):c.98238T>C (p.Ser32746=)
|
rs879159807
|
0.00001
|
|
NM_001267550.2(TTN):c.98341T>C (p.Cys32781Arg)
|
rs562178341
|
0.00001
|
|
NM_001267550.2(TTN):c.98460T>C (p.Pro32820=)
|
rs761758255
|
0.00001
|
|
NM_001267550.2(TTN):c.98465A>G (p.Asp32822Gly)
|
rs191054704
|
0.00001
|
|
NM_001267550.2(TTN):c.98514G>A (p.Val32838=)
|
rs766256695
|
0.00001
|
|
NM_001267550.2(TTN):c.98523C>T (p.Ala32841=)
|
rs1273018417
|
0.00001
|
|
NM_001267550.2(TTN):c.98532T>C (p.Tyr32844=)
|
rs1435802250
|
0.00001
|
|
NM_001267550.2(TTN):c.98568G>A (p.Val32856=)
|
rs533744192
|
0.00001
|
|
NM_001267550.2(TTN):c.98589T>C (p.Asn32863=)
|
rs1553509474
|
0.00001
|
|
NM_001267550.2(TTN):c.98683+8C>A
|
rs1186041841
|
0.00001
|
|
NM_001267550.2(TTN):c.98684-10A>G
|
rs727505072
|
0.00001
|
|
NM_001267550.2(TTN):c.98684-4A>G
|
rs760027926
|
0.00001
|
|
NM_001267550.2(TTN):c.98684-9T>C
|
rs767607825
|
0.00001
|
|
NM_001267550.2(TTN):c.98685T>C (p.Asn32895=)
|
rs752093604
|
0.00001
|
|
NM_001267550.2(TTN):c.98688T>C (p.Pro32896=)
|
rs1575351608
|
0.00001
|
|
NM_001267550.2(TTN):c.98739T>C (p.Ser32913=)
|
rs377183405
|
0.00001
|
|
NM_001267550.2(TTN):c.98781T>C (p.Ser32927=)
|
rs750855113
|
0.00001
|
|
NM_001267550.2(TTN):c.98793C>A (p.Gly32931=)
|
rs542349170
|
0.00001
|
|
NM_001267550.2(TTN):c.98820C>T (p.Ser32940=)
|
rs777613056
|
0.00001
|
|
NM_001267550.2(TTN):c.9885G>A (p.Thr3295=)
|
rs867738419
|
0.00001
|
|
NM_001267550.2(TTN):c.98883G>A (p.Gly32961=)
|
rs367964855
|
0.00001
|
|
NM_001267550.2(TTN):c.99045C>T (p.Val33015=)
|
rs199642780
|
0.00001
|
|
NM_001267550.2(TTN):c.9918G>A (p.Ala3306=)
|
rs533798702
|
0.00001
|
|
NM_001267550.2(TTN):c.99225T>G (p.Ala33075=)
|
rs1000150217
|
0.00001
|
|
NM_001267550.2(TTN):c.99291T>C (p.Ser33097=)
|
rs748101761
|
0.00001
|
|
NM_001267550.2(TTN):c.99297G>A (p.Glu33099=)
|
rs925087891
|
0.00001
|
|
NM_001267550.2(TTN):c.99363A>G (p.Ser33121=)
|
rs1033602678
|
0.00001
|
|
NM_001267550.2(TTN):c.99471T>C (p.Thr33157=)
|
rs1487577514
|
0.00001
|
|
NM_001267550.2(TTN):c.99621T>C (p.Tyr33207=)
|
rs753176107
|
0.00001
|
|
NM_001267550.2(TTN):c.996A>G (p.Ala332=)
|
rs750838855
|
0.00001
|
|
NM_001267550.2(TTN):c.99702G>A (p.Gln33234=)
|
rs185925881
|
0.00001
|
|
NM_001267550.2(TTN):c.99753T>C (p.Tyr33251=)
|
rs781103653
|
0.00001
|
|
NM_001267550.2(TTN):c.99774T>C (p.Asn33258=)
|
rs758792040
|
0.00001
|
|
NM_001267550.2(TTN):c.9988+13C>T
|
rs757347744
|
0.00001
|
|
NM_001267550.2(TTN):c.9988+14G>A
|
rs754074745
|
0.00001
|
|
NM_001267550.2(TTN):c.9989-16T>C
|
rs564482474
|
0.00001
|
|
NM_001267550.2(TTN):c.99900C>T (p.Ile33300=)
|
rs747130957
|
0.00001
|
|
NM_001267550.2(TTN):c.99909A>G (p.Leu33303=)
|
rs878926568
|
0.00001
|
|
NM_001267550.2(TTN):c.99927G>C (p.Val33309=)
|
rs752424641
|
0.00001
|
|
NM_001267550.2(TTN):c.99954C>T (p.Asp33318=)
|
rs765089470
|
0.00001
|
|
NM_001267550.2(TTN):c.99990A>G (p.Lys33330=)
|
rs749702063
|
0.00001
|
|
NM_001267550.2(TTN):c.99996G>A (p.Glu33332=)
|
rs754693509
|
0.00001
|
|
NM_001276345.2(TNNT2):c.135G>A (p.Glu45=)
|
rs756174289
|
0.00001
|
|
NM_001276345.2(TNNT2):c.144C>T (p.Thr48=)
|
rs746492909
|
0.00001
|
|
NM_001276345.2(TNNT2):c.153C>G (p.Thr51=)
|
rs1347127737
|
0.00001
|
|
NM_001276345.2(TNNT2):c.163+13T>C
|
rs527486692
|
0.00001
|
|
NM_001276345.2(TNNT2):c.164-11G>A
|
rs1410150306
|
0.00001
|
|
NM_001276345.2(TNNT2):c.164-13G>A
|
rs369469475
|
0.00001
|
|
NM_001276345.2(TNNT2):c.192G>A (p.Glu64=)
|
rs1180516886
|
0.00001
|
|
NM_001276345.2(TNNT2):c.199+12A>G
|
rs904874768
|
0.00001
|
|
NM_001276345.2(TNNT2):c.200-4C>G
|
rs397516448
|
0.00001
|
|
NM_001276345.2(TNNT2):c.21G>T (p.Val7=)
|
rs777128825
|
0.00001
|
|
NM_001276345.2(TNNT2):c.222A>G (p.Lys74=)
|
rs781024179
|
0.00001
|
|
NM_001276345.2(TNNT2):c.255G>A (p.Val85=)
|
rs780115529
|
0.00001
|
|
NM_001276345.2(TNNT2):c.273T>C (p.Asp91=)
|
rs763782935
|
0.00001
|
|
NM_001276345.2(TNNT2):c.390C>T (p.Leu130=)
|
rs758543857
|
0.00001
|
|
NM_001276345.2(TNNT2):c.39G>A (p.Glu13=)
|
rs727503516
|
0.00001
|
|
NM_001276345.2(TNNT2):c.405C>T (p.Asp135=)
|
rs1161852405
|
0.00001
|
|
NM_001276345.2(TNNT2):c.411+18C>T
|
rs1384231060
|
0.00001
|
|
NM_001276345.2(TNNT2):c.412-14C>A
|
rs745721749
|
0.00001
|
|
NM_001276345.2(TNNT2):c.412-8C>T
|
rs781240506
|
0.00001
|
|
NM_001276345.2(TNNT2):c.450C>T (p.Ile150=)
|
rs200604266
|
0.00001
|
|
NM_001276345.2(TNNT2):c.459G>A (p.Glu153=)
|
rs775274966
|
0.00001
|
|
NM_001276345.2(TNNT2):c.52+16T>C
|
rs372210580
|
0.00001
|
|
NM_001276345.2(TNNT2):c.600+11A>G
|
rs1377139344
|
0.00001
|
|
NM_001276345.2(TNNT2):c.600+8G>C
|
rs1387765771
|
0.00001
|
|
NM_001276345.2(TNNT2):c.600+9G>C
|
rs760490476
|
0.00001
|
|
NM_001276345.2(TNNT2):c.610-6C>T
|
rs45516702
|
0.00001
|
|
NM_001276345.2(TNNT2):c.642G>A (p.Glu214=)
|
rs772300998
|
0.00001
|
|
NM_001276345.2(TNNT2):c.67+12A>G
|
rs138757060
|
0.00001
|
|
NM_001276345.2(TNNT2):c.720-14C>A
|
rs761998371
|
0.00001
|
|
NM_001276345.2(TNNT2):c.720-9C>A
|
rs763204242
|
0.00001
|
|
NM_001276345.2(TNNT2):c.778C>T (p.Leu260=)
|
rs977853063
|
0.00001
|
|
NM_001276345.2(TNNT2):c.810+8G>A
|
rs369645817
|
0.00001
|
|
NM_001276345.2(TNNT2):c.811-4G>A
|
rs1431082504
|
0.00001
|
|
NM_001276345.2(TNNT2):c.852-18G>A
|
rs778928540
|
0.00001
|
|
NM_001276345.2(TNNT2):c.861C>A (p.Thr287=)
|
rs754211195
|
0.00001
|
|
NM_001289808.2(CRYAB):c.117G>A (p.Pro39=)
|
rs782481381
|
0.00001
|
|
NM_001289808.2(CRYAB):c.24C>T (p.Pro8=)
|
rs1178917337
|
0.00001
|
|
NM_001289808.2(CRYAB):c.325-6G>T
|
rs376641676
|
0.00001
|
|
NM_001289808.2(CRYAB):c.325-9T>C
|
rs1555165263
|
0.00001
|
|
NM_001289808.2(CRYAB):c.333T>C (p.His111=)
|
rs982609751
|
0.00001
|
|
NM_001289808.2(CRYAB):c.471C>T (p.Arg157=)
|
rs373551429
|
0.00001
|
|
NM_001289808.2(CRYAB):c.84C>T (p.Phe28=)
|
rs1555165581
|
0.00001
|
|
NM_001318895.3(FHL2):c.141C>T (p.Ile47=)
|
rs757222173
|
0.00001
|
|
NM_001318895.3(FHL2):c.156+8C>T
|
rs1233115186
|
0.00001
|
|
NM_001318895.3(FHL2):c.157-14G>A
|
rs1681265871
|
0.00001
|
|
NM_001318895.3(FHL2):c.291C>T (p.Tyr97=)
|
rs767220225
|
0.00001
|
|
NM_001318895.3(FHL2):c.333T>C (p.Gly111=)
|
rs780800767
|
0.00001
|
|
NM_001318895.3(FHL2):c.502-11C>T
|
rs750695509
|
0.00001
|
|
NM_001318895.3(FHL2):c.513G>A (p.Thr171=)
|
rs1018740778
|
0.00001
|
|
NM_001318895.3(FHL2):c.609C>T (p.Arg203=)
|
rs745753003
|
0.00001
|
|
NM_001318895.3(FHL2):c.688+11C>T
|
rs1218219091
|
0.00001
|
|
NM_001386795.1(DTNA):c.1002-2320T>A
|
rs1268810426
|
0.00001
|
|
NM_001386795.1(DTNA):c.1002-2332C>A
|
rs1212752013
|
0.00001
|
|
NM_001386795.1(DTNA):c.1251A>G (p.Lys417=)
|
rs752820082
|
0.00001
|
|
NM_001386795.1(DTNA):c.1435-11A>G
|
rs758607581
|
0.00001
|
|
NM_001386795.1(DTNA):c.1491G>A (p.Lys497=)
|
rs397517444
|
0.00001
|
|
NM_001386795.1(DTNA):c.1532+17G>A
|
rs777993752
|
0.00001
|
|
NM_001386795.1(DTNA):c.1533-6C>G
|
rs1238846335
|
0.00001
|
|
NM_001386795.1(DTNA):c.1562G>A (p.Arg521Gln)
|
rs530066221
|
0.00001
|
|
NM_001386795.1(DTNA):c.1695C>T (p.Ser565=)
|
rs774966330
|
0.00001
|
|
NM_001386795.1(DTNA):c.174C>T (p.Val58=)
|
rs145335092
|
0.00001
|
|
NM_001386795.1(DTNA):c.1857C>T (p.Asp619=)
|
rs1437954707
|
0.00001
|
|
NM_001386795.1(DTNA):c.1903+19T>C
|
rs2096804951
|
0.00001
|
|
NM_001386795.1(DTNA):c.2265G>A (p.Leu755=)
|
rs1603352070
|
0.00001
|
|
NM_001386795.1(DTNA):c.2295+10T>A
|
rs376012937
|
0.00001
|
|
NM_001386795.1(DTNA):c.264T>C (p.Ile88=)
|
rs776672964
|
0.00001
|
|
NM_001386795.1(DTNA):c.282A>G (p.Lys94=)
|
rs751436638
|
0.00001
|
|
NM_001386795.1(DTNA):c.476G>A (p.Ser159Asn)
|
rs147115867
|
0.00001
|
|
NM_001386795.1(DTNA):c.54G>A (p.Leu18=)
|
rs754265551
|
0.00001
|
|
NM_001386795.1(DTNA):c.603+20A>G
|
rs371565552
|
0.00001
|
|
NM_001386795.1(DTNA):c.615G>A (p.Thr205=)
|
rs552069190
|
0.00001
|
|
NM_001386795.1(DTNA):c.633C>T (p.Asp211=)
|
rs1425308391
|
0.00001
|
|
NM_001386795.1(DTNA):c.68-5A>G
|
rs1243110074
|
0.00001
|
|
NM_001386795.1(DTNA):c.682C>T (p.Leu228=)
|
rs2095588092
|
0.00001
|
|
NM_001386795.1(DTNA):c.837T>A (p.Ser279=)
|
rs560476760
|
0.00001
|
|
NM_001386795.1(DTNA):c.840T>C (p.His280=)
|
rs933476610
|
0.00001
|
|
NM_001386795.1(DTNA):c.864G>A (p.Glu288=)
|
rs778634462
|
0.00001
|
|
NM_001386795.1(DTNA):c.876+16G>A
|
rs913518501
|
0.00001
|
|
NM_001386795.1(DTNA):c.876+9A>G
|
rs933087416
|
0.00001
|
|
NM_001386795.1(DTNA):c.96C>G (p.Leu32=)
|
rs1162412939
|
0.00001
|
|
NM_001458.5(FLNC):c.1019A>G (p.Tyr340Cys)
|
rs1362619480
|
0.00001
|
|
NM_001458.5(FLNC):c.1048-9G>A
|
rs897884333
|
0.00001
|
|
NM_001458.5(FLNC):c.1059C>G (p.Leu353=)
|
rs760418462
|
0.00001
|
|
NM_001458.5(FLNC):c.1073A>G (p.Asn358Ser)
|
rs766196208
|
0.00001
|
|
NM_001458.5(FLNC):c.1089C>T (p.Pro363=)
|
rs1016218211
|
0.00001
|
|
NM_001458.5(FLNC):c.1128C>A (p.Asn376Lys)
|
rs773165378
|
0.00001
|
|
NM_001458.5(FLNC):c.1169A>G (p.Asn390Ser)
|
rs188905854
|
0.00001
|
|
NM_001458.5(FLNC):c.1176C>T (p.Ala392=)
|
rs767977714
|
0.00001
|
|
NM_001458.5(FLNC):c.1184C>T (p.Pro395Leu)
|
rs750881912
|
0.00001
|
|
NM_001458.5(FLNC):c.1197C>T (p.Asp399=)
|
rs756546984
|
0.00001
|
|
NM_001458.5(FLNC):c.1210+10G>T
|
rs562941732
|
0.00001
|
|
NM_001458.5(FLNC):c.1210+13C>T
|
rs775741829
|
0.00001
|
|
NM_001458.5(FLNC):c.1210+19G>C
|
rs1174673304
|
0.00001
|
|
NM_001458.5(FLNC):c.1224C>T (p.Gly408=)
|
rs1412295566
|
0.00001
|
|
NM_001458.5(FLNC):c.1262G>A (p.Arg421Gln)
|
rs751236317
|
0.00001
|
|
NM_001458.5(FLNC):c.126C>T (p.Phe42=)
|
rs746857110
|
0.00001
|
|
NM_001458.5(FLNC):c.1304C>T (p.Thr435Met)
|
rs199935488
|
0.00001
|
|
NM_001458.5(FLNC):c.1310G>A (p.Arg437His)
|
rs370138936
|
0.00001
|
|
NM_001458.5(FLNC):c.1353T>C (p.His451=)
|
rs1181457724
|
0.00001
|
|
NM_001458.5(FLNC):c.1392C>T (p.Phe464=)
|
rs910678755
|
0.00001
|
|
NM_001458.5(FLNC):c.1398C>T (p.Val466=)
|
rs942095368
|
0.00001
|
|
NM_001458.5(FLNC):c.1406C>T (p.Ser469Leu)
|
rs1279257124
|
0.00001
|
|
NM_001458.5(FLNC):c.1407G>A (p.Ser469=)
|
rs766168758
|
0.00001
|
|
NM_001458.5(FLNC):c.1411+20C>G
|
rs1434883225
|
0.00001
|
|
NM_001458.5(FLNC):c.1412-5C>T
|
rs765122668
|
0.00001
|
|
NM_001458.5(FLNC):c.141T>C (p.Asn47=)
|
rs1331955110
|
0.00001
|
|
NM_001458.5(FLNC):c.1426G>T (p.Ala476Ser)
|
rs746359389
|
0.00001
|
|
NM_001458.5(FLNC):c.1430G>C (p.Cys477Ser)
|
rs560530105
|
0.00001
|
|
NM_001458.5(FLNC):c.1432C>T (p.Arg478Cys)
|
rs780542423
|
0.00001
|
|
NM_001458.5(FLNC):c.1435G>A (p.Ala479Thr)
|
rs772697482
|
0.00001
|
|
NM_001458.5(FLNC):c.1469G>A (p.Arg490His)
|
rs1046320257
|
0.00001
|
|
NM_001458.5(FLNC):c.1470C>T (p.Arg490=)
|
rs765212618
|
0.00001
|
|
NM_001458.5(FLNC):c.1536G>A (p.Thr512=)
|
rs1335788654
|
0.00001
|
|
NM_001458.5(FLNC):c.1599C>T (p.Phe533=)
|
rs768072902
|
0.00001
|
|
NM_001458.5(FLNC):c.1632G>A (p.Lys544=)
|
rs566538377
|
0.00001
|
|
NM_001458.5(FLNC):c.1676+13C>T
|
rs927536334
|
0.00001
|
|
NM_001458.5(FLNC):c.1676+15C>T
|
rs763127950
|
0.00001
|
|
NM_001458.5(FLNC):c.1749T>C (p.Thr583=)
|
rs781196373
|
0.00001
|
|
NM_001458.5(FLNC):c.1766C>T (p.Ser589Leu)
|
rs780098760
|
0.00001
|
|
NM_001458.5(FLNC):c.1797C>T (p.Thr599=)
|
rs773793586
|
0.00001
|
|
NM_001458.5(FLNC):c.1813+10T>A
|
rs756806116
|
0.00001
|
|
NM_001458.5(FLNC):c.1818C>T (p.Phe606=)
|
rs1404509377
|
0.00001
|
|
NM_001458.5(FLNC):c.1822A>G (p.Ile608Val)
|
rs779240577
|
0.00001
|
|
NM_001458.5(FLNC):c.1840G>A (p.Ala614Thr)
|
rs746183882
|
0.00001
|
|
NM_001458.5(FLNC):c.1898C>T (p.Thr633Met)
|
rs1187790496
|
0.00001
|
|
NM_001458.5(FLNC):c.1910A>G (p.Glu637Gly)
|
rs536328437
|
0.00001
|
|
NM_001458.5(FLNC):c.192C>G (p.Leu64=)
|
rs1172570582
|
0.00001
|
|
NM_001458.5(FLNC):c.198C>T (p.Asp66=)
|
rs764772679
|
0.00001
|
|
NM_001458.5(FLNC):c.2008-12C>T
|
rs774607151
|
0.00001
|
|
NM_001458.5(FLNC):c.2008-14T>G
|
rs1057460428
|
0.00001
|
|
NM_001458.5(FLNC):c.2023C>T (p.Pro675Ser)
|
rs1227192105
|
0.00001
|
|
NM_001458.5(FLNC):c.2029C>G (p.Leu677Val)
|
rs754331955
|
0.00001
|
|
NM_001458.5(FLNC):c.2050G>A (p.Val684Met)
|
rs769221710
|
0.00001
|
|
NM_001458.5(FLNC):c.2061C>T (p.Pro687=)
|
rs545269561
|
0.00001
|
|
NM_001458.5(FLNC):c.2081C>T (p.Ala694Val)
|
rs1315847764
|
0.00001
|
|
NM_001458.5(FLNC):c.2112C>G (p.Leu704=)
|
rs758859689
|
0.00001
|
|
NM_001458.5(FLNC):c.2114A>C (p.Tyr705Ser)
|
rs368473600
|
0.00001
|
|
NM_001458.5(FLNC):c.2127C>T (p.Ala709=)
|
rs753225379
|
0.00001
|
|
NM_001458.5(FLNC):c.2169C>T (p.Asp723=)
|
rs377553322
|
0.00001
|
|
NM_001458.5(FLNC):c.2175C>G (p.Thr725=)
|
rs957405389
|
0.00001
|
|
NM_001458.5(FLNC):c.2191G>A (p.Val731Met)
|
rs757110783
|
0.00001
|
|
NM_001458.5(FLNC):c.2202G>A (p.Lys734=)
|
rs769984017
|
0.00001
|
|
NM_001458.5(FLNC):c.2217C>T (p.Thr739=)
|
rs1169471172
|
0.00001
|
|
NM_001458.5(FLNC):c.222C>G (p.Leu74=)
|
rs965256172
|
0.00001
|
|
NM_001458.5(FLNC):c.2238C>T (p.Gly746=)
|
rs759243298
|
0.00001
|
|
NM_001458.5(FLNC):c.2245G>A (p.Val749Met)
|
rs763901270
|
0.00001
|
|
NM_001458.5(FLNC):c.2259C>T (p.Pro753=)
|
rs1585157340
|
0.00001
|
|
NM_001458.5(FLNC):c.2265+7C>T
|
rs1477196021
|
0.00001
|
|
NM_001458.5(FLNC):c.2265+8C>T
|
rs1808370968
|
0.00001
|
|
NM_001458.5(FLNC):c.2266-11C>T
|
rs1201885833
|
0.00001
|
|
NM_001458.5(FLNC):c.2278G>A (p.Glu760Lys)
|
rs772574007
|
0.00001
|
|
NM_001458.5(FLNC):c.2287C>T (p.His763Tyr)
|
rs1380984220
|
0.00001
|
|
NM_001458.5(FLNC):c.2305G>T (p.Val769Leu)
|
rs1046022647
|
0.00001
|
|
NM_001458.5(FLNC):c.2307G>A (p.Val769=)
|
rs906089015
|
0.00001
|
|
NM_001458.5(FLNC):c.2329A>G (p.Thr777Ala)
|
rs1220603614
|
0.00001
|
|
NM_001458.5(FLNC):c.232A>C (p.Ser78Arg)
|
rs746082496
|
0.00001
|
|
NM_001458.5(FLNC):c.2345A>G (p.Asn782Ser)
|
rs767436158
|
0.00001
|
|
NM_001458.5(FLNC):c.2385G>T (p.Gly795=)
|
rs758439866
|
0.00001
|
|
NM_001458.5(FLNC):c.2406C>T (p.Gly802=)
|
rs770943809
|
0.00001
|
|
NM_001458.5(FLNC):c.2421A>G (p.Pro807=)
|
rs1585157908
|
0.00001
|
|
NM_001458.5(FLNC):c.2424C>T (p.Gly808=)
|
rs764991202
|
0.00001
|
|
NM_001458.5(FLNC):c.2427G>T (p.Val809=)
|
rs901910589
|
0.00001
|
|
NM_001458.5(FLNC):c.2502G>A (p.Thr834=)
|
rs984526805
|
0.00001
|
|
NM_001458.5(FLNC):c.2514G>A (p.Ala838=)
|
rs762824697
|
0.00001
|
|
NM_001458.5(FLNC):c.2557C>T (p.Pro853Ser)
|
rs374302753
|
0.00001
|
|
NM_001458.5(FLNC):c.2587C>G (p.Pro863Ala)
|
rs754750752
|
0.00001
|
|
NM_001458.5(FLNC):c.2599G>A (p.Ala867Thr)
|
rs772127988
|
0.00001
|
|
NM_001458.5(FLNC):c.2636G>A (p.Arg879His)
|
rs367997079
|
0.00001
|
|
NM_001458.5(FLNC):c.2641+7G>T
|
rs775941446
|
0.00001
|
|
NM_001458.5(FLNC):c.2642-18C>T
|
rs202220457
|
0.00001
|
|
NM_001458.5(FLNC):c.2655G>A (p.Gly885=)
|
rs1034531656
|
0.00001
|
|
NM_001458.5(FLNC):c.2661C>T (p.Pro887=)
|
rs772723929
|
0.00001
|
|
NM_001458.5(FLNC):c.2672C>T (p.Thr891Met)
|
rs766023596
|
0.00001
|
|
NM_001458.5(FLNC):c.268C>T (p.Pro90Ser)
|
rs1292076381
|
0.00001
|
|
NM_001458.5(FLNC):c.2796C>T (p.Tyr932=)
|
rs1371836474
|
0.00001
|
|
NM_001458.5(FLNC):c.2800G>A (p.Ala934Thr)
|
rs763954095
|
0.00001
|
|
NM_001458.5(FLNC):c.2812-14A>G
|
rs755042584
|
0.00001
|
|
NM_001458.5(FLNC):c.2838T>C (p.Tyr946=)
|
rs769390195
|
0.00001
|
|
NM_001458.5(FLNC):c.2874G>A (p.Val958=)
|
rs754046100
|
0.00001
|
|
NM_001458.5(FLNC):c.2884C>A (p.Pro962Thr)
|
rs765301554
|
0.00001
|
|
NM_001458.5(FLNC):c.2911G>A (p.Val971Ile)
|
rs548199973
|
0.00001
|
|
NM_001458.5(FLNC):c.2929+8G>A
|
rs1808445965
|
0.00001
|
|
NM_001458.5(FLNC):c.2930-13G>A
|
rs367572660
|
0.00001
|
|
NM_001458.5(FLNC):c.2937T>A (p.Ala979=)
|
rs746977392
|
0.00001
|
|
NM_001458.5(FLNC):c.2967C>A (p.Asn989Lys)
|
rs775727204
|
0.00001
|
|
NM_001458.5(FLNC):c.2982C>T (p.Gly994=)
|
rs947174901
|
0.00001
|
|
NM_001458.5(FLNC):c.2999A>C (p.Asp1000Ala)
|
rs1457558516
|
0.00001
|
|
NM_001458.5(FLNC):c.3015G>A (p.Ser1005=)
|
rs1278675439
|
0.00001
|
|
NM_001458.5(FLNC):c.3033C>A (p.Ile1011=)
|
rs757092972
|
0.00001
|
|
NM_001458.5(FLNC):c.3045G>A (p.Leu1015=)
|
rs369511914
|
0.00001
|
|
NM_001458.5(FLNC):c.3054C>T (p.Gly1018=)
|
rs769624093
|
0.00001
|
|
NM_001458.5(FLNC):c.3102G>T (p.Gly1034=)
|
rs758066777
|
0.00001
|
|
NM_001458.5(FLNC):c.3114G>T (p.Val1038=)
|
rs376516180
|
0.00001
|
|
NM_001458.5(FLNC):c.3126C>T (p.Tyr1042=)
|
rs745872537
|
0.00001
|
|
NM_001458.5(FLNC):c.3127G>A (p.Asp1043Asn)
|
rs755896041
|
0.00001
|
|
NM_001458.5(FLNC):c.312C>T (p.Leu104=)
|
rs762302204
|
0.00001
|
|
NM_001458.5(FLNC):c.3141G>A (p.Val1047=)
|
rs1554399057
|
0.00001
|
|
NM_001458.5(FLNC):c.3148A>G (p.Ser1050Gly)
|
rs773580485
|
0.00001
|
|
NM_001458.5(FLNC):c.3207C>T (p.Gly1069=)
|
rs753825183
|
0.00001
|
|
NM_001458.5(FLNC):c.3226C>T (p.Leu1076=)
|
rs777887406
|
0.00001
|
|
NM_001458.5(FLNC):c.3268G>T (p.Ala1090Ser)
|
rs760158891
|
0.00001
|
|
NM_001458.5(FLNC):c.3317A>G (p.Lys1106Arg)
|
rs1349933620
|
0.00001
|
|
NM_001458.5(FLNC):c.3321C>T (p.Ile1107=)
|
rs775641996
|
0.00001
|
|
NM_001458.5(FLNC):c.3348A>T (p.Ser1116=)
|
rs1053209205
|
0.00001
|
|
NM_001458.5(FLNC):c.3375G>A (p.Glu1125=)
|
rs1317937683
|
0.00001
|
|
NM_001458.5(FLNC):c.3381C>T (p.Gly1127=)
|
rs1052000080
|
0.00001
|
|
NM_001458.5(FLNC):c.3387C>T (p.Tyr1129=)
|
rs765189701
|
0.00001
|
|
NM_001458.5(FLNC):c.3402G>C (p.Leu1134=)
|
rs1185395026
|
0.00001
|
|
NM_001458.5(FLNC):c.3429G>A (p.Ser1143=)
|
rs780592878
|
0.00001
|
|
NM_001458.5(FLNC):c.3500G>A (p.Arg1167His)
|
rs574074583
|
0.00001
|
|
NM_001458.5(FLNC):c.3501C>T (p.Arg1167=)
|
rs544320561
|
0.00001
|
|
NM_001458.5(FLNC):c.3513T>C (p.Gly1171=)
|
rs1259009437
|
0.00001
|
|
NM_001458.5(FLNC):c.3529A>G (p.Thr1177Ala)
|
rs748850596
|
0.00001
|
|
NM_001458.5(FLNC):c.353-6C>T
|
rs748284739
|
0.00001
|
|
NM_001458.5(FLNC):c.3558G>A (p.Ala1186=)
|
rs774467047
|
0.00001
|
|
NM_001458.5(FLNC):c.3600C>T (p.Ala1200=)
|
rs777931249
|
0.00001
|
|
NM_001458.5(FLNC):c.3654T>G (p.Pro1218=)
|
rs1357609481
|
0.00001
|
|
NM_001458.5(FLNC):c.3702C>T (p.Pro1234=)
|
rs778503145
|
0.00001
|
|
NM_001458.5(FLNC):c.3730G>A (p.Val1244Met)
|
rs746023653
|
0.00001
|
|
NM_001458.5(FLNC):c.3773C>G (p.Pro1258Arg)
|
rs1425684282
|
0.00001
|
|
NM_001458.5(FLNC):c.3790+20C>A
|
rs1234654866
|
0.00001
|
|
NM_001458.5(FLNC):c.3791-19C>T
|
rs763590558
|
0.00001
|
|
NM_001458.5(FLNC):c.3867G>A (p.Thr1289=)
|
rs886038485
|
0.00001
|
|
NM_001458.5(FLNC):c.3876G>A (p.Val1292=)
|
rs1192892491
|
0.00001
|
|
NM_001458.5(FLNC):c.3885C>T (p.Pro1295=)
|
rs778413094
|
0.00001
|
|
NM_001458.5(FLNC):c.3909T>C (p.Tyr1303=)
|
rs1329973329
|
0.00001
|
|
NM_001458.5(FLNC):c.3957C>T (p.Tyr1319=)
|
rs781589024
|
0.00001
|
|
NM_001458.5(FLNC):c.3958G>A (p.Glu1320Lys)
|
rs746217788
|
0.00001
|
|
NM_001458.5(FLNC):c.3965-20C>T
|
rs781712238
|
0.00001
|
|
NM_001458.5(FLNC):c.3987G>A (p.Leu1329=)
|
rs374299121
|
0.00001
|
|
NM_001458.5(FLNC):c.3999C>T (p.Val1333=)
|
rs1341936427
|
0.00001
|
|
NM_001458.5(FLNC):c.4023A>T (p.Arg1341=)
|
rs751884031
|
0.00001
|
|
NM_001458.5(FLNC):c.4035C>T (p.Thr1345=)
|
rs538733304
|
0.00001
|
|
NM_001458.5(FLNC):c.4068C>T (p.Phe1356=)
|
rs745413025
|
0.00001
|
|
NM_001458.5(FLNC):c.407C>T (p.Thr136Met)
|
rs748919727
|
0.00001
|
|
NM_001458.5(FLNC):c.4134G>A (p.Ala1378=)
|
rs200942470
|
0.00001
|
|
NM_001458.5(FLNC):c.4170C>T (p.Pro1390=)
|
rs750156834
|
0.00001
|
|
NM_001458.5(FLNC):c.4172C>T (p.Ser1391Leu)
|
rs755832014
|
0.00001
|
|
NM_001458.5(FLNC):c.4179C>G (p.Ala1393=)
|
rs1304554131
|
0.00001
|
|
NM_001458.5(FLNC):c.423C>T (p.Tyr141=)
|
rs761354079
|
0.00001
|
|
NM_001458.5(FLNC):c.4303G>A (p.Val1435Met)
|
rs370643162
|
0.00001
|
|
NM_001458.5(FLNC):c.432C>T (p.Ser144=)
|
rs1285077880
|
0.00001
|
|
NM_001458.5(FLNC):c.4350G>A (p.Gly1450=)
|
rs769921610
|
0.00001
|
|
NM_001458.5(FLNC):c.4378C>T (p.Arg1460Trp)
|
rs376265227
|
0.00001
|
|
NM_001458.5(FLNC):c.4379G>A (p.Arg1460Gln)
|
rs773716930
|
0.00001
|
|
NM_001458.5(FLNC):c.4380G>T (p.Arg1460=)
|
rs1005510680
|
0.00001
|
|
NM_001458.5(FLNC):c.4424C>T (p.Ala1475Val)
|
rs369305865
|
0.00001
|
|
NM_001458.5(FLNC):c.4464C>T (p.Ala1488=)
|
rs755909576
|
0.00001
|
|
NM_001458.5(FLNC):c.4465G>A (p.Glu1489Lys)
|
rs766612482
|
0.00001
|
|
NM_001458.5(FLNC):c.4485C>T (p.Asp1495=)
|
rs373198674
|
0.00001
|
|
NM_001458.5(FLNC):c.4512C>T (p.His1504=)
|
rs370528183
|
0.00001
|
|
NM_001458.5(FLNC):c.4539C>T (p.Tyr1513=)
|
rs759632987
|
0.00001
|
|
NM_001458.5(FLNC):c.4548C>T (p.Ala1516=)
|
rs376441465
|
0.00001
|
|
NM_001458.5(FLNC):c.4572G>A (p.Val1524=)
|
rs1808638682
|
0.00001
|
|
NM_001458.5(FLNC):c.4581-12C>T
|
rs781742167
|
0.00001
|
|
NM_001458.5(FLNC):c.4611T>C (p.His1537=)
|
rs376222096
|
0.00001
|
|
NM_001458.5(FLNC):c.4626G>A (p.Val1542=)
|
rs776682674
|
0.00001
|
|
NM_001458.5(FLNC):c.4628G>A (p.Arg1543Gln)
|
rs369178040
|
0.00001
|
|
NM_001458.5(FLNC):c.4644C>A (p.Gly1548=)
|
rs762001332
|
0.00001
|
|
NM_001458.5(FLNC):c.4678G>C (p.Val1560Leu)
|
rs1351915127
|
0.00001
|
|
NM_001458.5(FLNC):c.4696G>A (p.Ala1566Thr)
|
rs1161262954
|
0.00001
|
|
NM_001458.5(FLNC):c.4704C>T (p.Asp1568=)
|
rs749131315
|
0.00001
|
|
NM_001458.5(FLNC):c.470G>A (p.Arg157His)
|
rs752919962
|
0.00001
|
|
NM_001458.5(FLNC):c.4722C>T (p.Leu1574=)
|
rs376933198
|
0.00001
|
|
NM_001458.5(FLNC):c.4728C>T (p.Val1576=)
|
rs1222823077
|
0.00001
|
|
NM_001458.5(FLNC):c.4762G>C (p.Ala1588Pro)
|
rs761482137
|
0.00001
|
|
NM_001458.5(FLNC):c.483C>T (p.Pro161=)
|
rs777932071
|
0.00001
|
|
NM_001458.5(FLNC):c.4851C>T (p.Gly1617=)
|
rs1357827460
|
0.00001
|
|
NM_001458.5(FLNC):c.4878C>T (p.Phe1626=)
|
rs750164635
|
0.00001
|
|
NM_001458.5(FLNC):c.4879C>T (p.Arg1627Cys)
|
rs760407609
|
0.00001
|
|
NM_001458.5(FLNC):c.489G>A (p.Gln163=)
|
rs1382736500
|
0.00001
|
|
NM_001458.5(FLNC):c.4920C>T (p.Leu1640=)
|
rs752516424
|
0.00001
|
|
NM_001458.5(FLNC):c.4927+14C>T
|
rs542105844
|
0.00001
|
|
NM_001458.5(FLNC):c.4928-9T>C
|
rs749753725
|
0.00001
|
|
NM_001458.5(FLNC):c.4951+10C>T
|
rs778809639
|
0.00001
|
|
NM_001458.5(FLNC):c.4979T>C (p.Ile1660Thr)
|
rs750254727
|
0.00001
|
|
NM_001458.5(FLNC):c.4992G>A (p.Thr1664=)
|
rs766665525
|
0.00001
|
|
NM_001458.5(FLNC):c.4995G>A (p.Val1665=)
|
rs368212293
|
0.00001
|
|
NM_001458.5(FLNC):c.5019C>T (p.Ala1673=)
|
rs747436514
|
0.00001
|
|
NM_001458.5(FLNC):c.5031G>A (p.Lys1677=)
|
rs534356967
|
0.00001
|
|
NM_001458.5(FLNC):c.5043G>A (p.Thr1681=)
|
rs200405579
|
0.00001
|
|
NM_001458.5(FLNC):c.5051C>T (p.Thr1684Met)
|
rs1294213097
|
0.00001
|
|
NM_001458.5(FLNC):c.5055G>A (p.Pro1685=)
|
rs57797061
|
0.00001
|
|
NM_001458.5(FLNC):c.5097C>T (p.Asp1699=)
|
rs1246194093
|
0.00001
|
|
NM_001458.5(FLNC):c.5098G>A (p.Gly1700Ser)
|
rs1264382469
|
0.00001
|
|
NM_001458.5(FLNC):c.5111T>C (p.Ile1704Thr)
|
rs752850659
|
0.00001
|
|
NM_001458.5(FLNC):c.5133G>A (p.Pro1711=)
|
rs754646406
|
0.00001
|
|
NM_001458.5(FLNC):c.5157C>T (p.Arg1719=)
|
rs770784518
|
0.00001
|
|
NM_001458.5(FLNC):c.5176C>T (p.Pro1726Ser)
|
rs529240463
|
0.00001
|
|
NM_001458.5(FLNC):c.5191C>T (p.His1731Tyr)
|
rs1255727604
|
0.00001
|
|
NM_001458.5(FLNC):c.5193C>T (p.His1731=)
|
rs752034193
|
0.00001
|
|
NM_001458.5(FLNC):c.51G>A (p.Glu17=)
|
rs753490528
|
0.00001
|
|
NM_001458.5(FLNC):c.5200-8C>T
|
rs1478656876
|
0.00001
|
|
NM_001458.5(FLNC):c.5202G>A (p.Ala1734=)
|
rs757233206
|
0.00001
|
|
NM_001458.5(FLNC):c.5212C>T (p.Leu1738=)
|
rs1308173261
|
0.00001
|
|
NM_001458.5(FLNC):c.5224G>A (p.Glu1742Lys)
|
rs774458113
|
0.00001
|
|
NM_001458.5(FLNC):c.5229G>A (p.Glu1743=)
|
rs1245475286
|
0.00001
|
|
NM_001458.5(FLNC):c.5235T>C (p.Ser1745=)
|
rs1245426549
|
0.00001
|
|
NM_001458.5(FLNC):c.5241G>C (p.Val1747=)
|
rs1199231657
|
0.00001
|
|
NM_001458.5(FLNC):c.5272C>T (p.Arg1758Trp)
|
rs369187211
|
0.00001
|
|
NM_001458.5(FLNC):c.5281G>A (p.Ala1761Thr)
|
rs376023896
|
0.00001
|
|
NM_001458.5(FLNC):c.5283C>T (p.Ala1761=)
|
rs1420967776
|
0.00001
|
|
NM_001458.5(FLNC):c.5298+10C>T
|
rs1361883369
|
0.00001
|
|
NM_001458.5(FLNC):c.5298+12C>T
|
rs1441508309
|
0.00001
|
|
NM_001458.5(FLNC):c.5298+16C>T
|
rs1808745487
|
0.00001
|
|
NM_001458.5(FLNC):c.5298+17C>G
|
rs947138277
|
0.00001
|
|
NM_001458.5(FLNC):c.5298+8G>A
|
rs867964395
|
0.00001
|
|
NM_001458.5(FLNC):c.5352C>T (p.Pro1784=)
|
rs775978179
|
0.00001
|
|
NM_001458.5(FLNC):c.5370C>T (p.Pro1790=)
|
rs766344715
|
0.00001
|
|
NM_001458.5(FLNC):c.5457C>T (p.Asp1819=)
|
rs376660713
|
0.00001
|
|
NM_001458.5(FLNC):c.5458G>A (p.Gly1820Ser)
|
rs763930207
|
0.00001
|
|
NM_001458.5(FLNC):c.5478T>C (p.Tyr1826=)
|
rs371167779
|
0.00001
|
|
NM_001458.5(FLNC):c.5523C>T (p.Asp1841=)
|
rs748504948
|
0.00001
|
|
NM_001458.5(FLNC):c.5540-11T>C
|
rs773637016
|
0.00001
|
|
NM_001458.5(FLNC):c.5544C>T (p.Ser1848=)
|
rs1350503435
|
0.00001
|
|
NM_001458.5(FLNC):c.5583T>C (p.His1861=)
|
rs777992233
|
0.00001
|
|
NM_001458.5(FLNC):c.5605C>T (p.Leu1869=)
|
rs916680913
|
0.00001
|
|
NM_001458.5(FLNC):c.5670G>A (p.Gly1890=)
|
rs369881758
|
0.00001
|
|
NM_001458.5(FLNC):c.5676G>A (p.Leu1892=)
|
rs1479099872
|
0.00001
|
|
NM_001458.5(FLNC):c.5685C>T (p.Ala1895=)
|
rs1219372997
|
0.00001
|
|
NM_001458.5(FLNC):c.5686G>A (p.Val1896Met)
|
rs891651799
|
0.00001
|
|
NM_001458.5(FLNC):c.5727C>T (p.Asn1909=)
|
rs771291072
|
0.00001
|
|
NM_001458.5(FLNC):c.5745C>T (p.Thr1915=)
|
rs369449907
|
0.00001
|
|
NM_001458.5(FLNC):c.5765C>T (p.Ala1922Val)
|
rs377206490
|
0.00001
|
|
NM_001458.5(FLNC):c.5787C>T (p.Ile1929=)
|
rs377063332
|
0.00001
|
|
NM_001458.5(FLNC):c.5793C>T (p.Arg1931=)
|
rs374631384
|
0.00001
|
|
NM_001458.5(FLNC):c.5805G>A (p.Lys1935=)
|
rs759262897
|
0.00001
|
|
NM_001458.5(FLNC):c.5814G>A (p.Pro1938=)
|
rs752263141
|
0.00001
|
|
NM_001458.5(FLNC):c.5842+12G>A
|
rs745604311
|
0.00001
|
|
NM_001458.5(FLNC):c.5842+20A>G
|
rs749524553
|
0.00001
|
|
NM_001458.5(FLNC):c.5843-7C>T
|
rs749562962
|
0.00001
|
|
NM_001458.5(FLNC):c.5850C>T (p.Asp1950=)
|
rs778996119
|
0.00001
|
|
NM_001458.5(FLNC):c.5903A>C (p.Lys1968Thr)
|
rs777028481
|
0.00001
|
|
NM_001458.5(FLNC):c.5913G>A (p.Glu1971=)
|
rs368751662
|
0.00001
|
|
NM_001458.5(FLNC):c.5915G>A (p.Ser1972Asn)
|
rs761342219
|
0.00001
|
|
NM_001458.5(FLNC):c.5922G>T (p.Leu1974=)
|
rs370900824
|
0.00001
|
|
NM_001458.5(FLNC):c.5935G>A (p.Ala1979Thr)
|
rs766127245
|
0.00001
|
|
NM_001458.5(FLNC):c.5961C>T (p.Asn1987=)
|
rs747515045
|
0.00001
|
|
NM_001458.5(FLNC):c.6004+7G>A
|
rs771535289
|
0.00001
|
|
NM_001458.5(FLNC):c.6015C>T (p.Phe2005=)
|
rs771715893
|
0.00001
|
|
NM_001458.5(FLNC):c.602-13A>G
|
rs548449826
|
0.00001
|
|
NM_001458.5(FLNC):c.6036G>A (p.Glu2012=)
|
rs1392711485
|
0.00001
|
|
NM_001458.5(FLNC):c.6063C>G (p.Gly2021=)
|
rs751601686
|
0.00001
|
|
NM_001458.5(FLNC):c.609C>T (p.Cys203=)
|
rs1455396332
|
0.00001
|
|
NM_001458.5(FLNC):c.6115G>A (p.Gly2039Arg)
|
rs1354394880
|
0.00001
|
|
NM_001458.5(FLNC):c.6123C>T (p.Ala2041=)
|
rs769675272
|
0.00001
|
|
NM_001458.5(FLNC):c.613G>A (p.Asp205Asn)
|
rs767740333
|
0.00001
|
|
NM_001458.5(FLNC):c.6189C>T (p.Ile2063=)
|
rs1408617446
|
0.00001
|
|
NM_001458.5(FLNC):c.61A>G (p.Met21Val)
|
rs1174042673
|
0.00001
|
|
NM_001458.5(FLNC):c.6208+12C>T
|
rs769734177
|
0.00001
|
|
NM_001458.5(FLNC):c.6208+17dup
|
rs1159094051
|
0.00001
|
|
NM_001458.5(FLNC):c.6208+8C>T
|
rs745328476
|
0.00001
|
|
NM_001458.5(FLNC):c.6209-10T>G
|
rs377551753
|
0.00001
|
|
NM_001458.5(FLNC):c.6282G>C (p.Gly2094=)
|
rs747894981
|
0.00001
|
|
NM_001458.5(FLNC):c.6321C>G (p.Thr2107=)
|
rs1417451523
|
0.00001
|
|
NM_001458.5(FLNC):c.6355G>A (p.Val2119Met)
|
rs748095197
|
0.00001
|
|
NM_001458.5(FLNC):c.635A>G (p.Asn212Ser)
|
rs756723697
|
0.00001
|
|
NM_001458.5(FLNC):c.6361+9C>G
|
rs747274154
|
0.00001
|
|
NM_001458.5(FLNC):c.6441C>T (p.Ile2147=)
|
rs762017885
|
0.00001
|
|
NM_001458.5(FLNC):c.6485-8C>T
|
rs369347947
|
0.00001
|
|
NM_001458.5(FLNC):c.6523A>C (p.Thr2175Pro)
|
rs1358590777
|
0.00001
|
|
NM_001458.5(FLNC):c.6527G>A (p.Arg2176His)
|
rs1295294313
|
0.00001
|
|
NM_001458.5(FLNC):c.6530C>A (p.Thr2177Asn)
|
rs756345989
|
0.00001
|
|
NM_001458.5(FLNC):c.6551C>G (p.Thr2184Ser)
|
rs772588219
|
0.00001
|
|
NM_001458.5(FLNC):c.6572C>T (p.Thr2191Met)
|
rs768329311
|
0.00001
|
|
NM_001458.5(FLNC):c.6587C>T (p.Thr2196Met)
|
rs560228151
|
0.00001
|
|
NM_001458.5(FLNC):c.6624G>A (p.Glu2208=)
|
rs768307482
|
0.00001
|
|
NM_001458.5(FLNC):c.6675C>T (p.Phe2225=)
|
rs1247783009
|
0.00001
|
|
NM_001458.5(FLNC):c.6683G>A (p.Arg2228Gln)
|
rs765438770
|
0.00001
|
|
NM_001458.5(FLNC):c.6703G>A (p.Gly2235Ser)
|
rs752159793
|
0.00001
|
|
NM_001458.5(FLNC):c.6727+7A>G
|
rs746982412
|
0.00001
|
|
NM_001458.5(FLNC):c.6748A>C (p.Met2250Leu)
|
rs923795184
|
0.00001
|
|
NM_001458.5(FLNC):c.676G>A (p.Asp226Asn)
|
rs745775171
|
0.00001
|
|
NM_001458.5(FLNC):c.6780G>A (p.Lys2260=)
|
rs1808967100
|
0.00001
|
|
NM_001458.5(FLNC):c.6789C>T (p.Ala2263=)
|
rs761059390
|
0.00001
|
|
NM_001458.5(FLNC):c.6798C>T (p.Ile2266=)
|
rs754105222
|
0.00001
|
|
NM_001458.5(FLNC):c.6810G>A (p.Glu2270=)
|
rs745858001
|
0.00001
|
|
NM_001458.5(FLNC):c.6829C>T (p.Arg2277Cys)
|
rs761696270
|
0.00001
|
|
NM_001458.5(FLNC):c.6853C>A (p.Pro2285Thr)
|
rs1455006748
|
0.00001
|
|
NM_001458.5(FLNC):c.6878G>A (p.Arg2293His)
|
rs1034483511
|
0.00001
|
|
NM_001458.5(FLNC):c.6891G>A (p.Val2297=)
|
rs1480800568
|
0.00001
|
|
NM_001458.5(FLNC):c.6924G>A (p.Pro2308=)
|
rs756083833
|
0.00001
|
|
NM_001458.5(FLNC):c.6925C>T (p.Leu2309=)
|
rs1350109880
|
0.00001
|
|
NM_001458.5(FLNC):c.6953G>A (p.Arg2318Gln)
|
rs749235580
|
0.00001
|
|
NM_001458.5(FLNC):c.699+8C>T
|
rs1327027331
|
0.00001
|
|
NM_001458.5(FLNC):c.6998-10C>T
|
rs1427937152
|
0.00001
|
|
NM_001458.5(FLNC):c.6998-6C>T
|
rs1336346022
|
0.00001
|
|
NM_001458.5(FLNC):c.700-20A>G
|
rs1408797410
|
0.00001
|
|
NM_001458.5(FLNC):c.700-4G>T
|
rs755636271
|
0.00001
|
|
NM_001458.5(FLNC):c.700-5C>T
|
rs745442558
|
0.00001
|
|
NM_001458.5(FLNC):c.7029C>T (p.Gly2343=)
|
rs770236960
|
0.00001
|
|
NM_001458.5(FLNC):c.7038C>A (p.Gly2346=)
|
rs763377116
|
0.00001
|
|
NM_001458.5(FLNC):c.7047T>C (p.Ile2349=)
|
rs760345428
|
0.00001
|
|
NM_001458.5(FLNC):c.7072G>A (p.Glu2358Lys)
|
rs370769744
|
0.00001
|
|
NM_001458.5(FLNC):c.7135+7G>A
|
rs760271102
|
0.00001
|
|
NM_001458.5(FLNC):c.7136-4C>T
|
rs938369758
|
0.00001
|
|
NM_001458.5(FLNC):c.7146G>A (p.Glu2382=)
|
rs779162678
|
0.00001
|
|
NM_001458.5(FLNC):c.7149C>T (p.Val2383=)
|
rs970004617
|
0.00001
|
|
NM_001458.5(FLNC):c.714G>A (p.Glu238=)
|
rs1249772444
|
0.00001
|
|
NM_001458.5(FLNC):c.7164T>C (p.Asn2388=)
|
rs1000562422
|
0.00001
|
|
NM_001458.5(FLNC):c.7173C>T (p.His2391=)
|
rs1188007382
|
0.00001
|
|
NM_001458.5(FLNC):c.7201G>A (p.Val2401Met)
|
rs868744958
|
0.00001
|
|
NM_001458.5(FLNC):c.7226G>A (p.Arg2409His)
|
rs767279710
|
0.00001
|
|
NM_001458.5(FLNC):c.7227C>T (p.Arg2409=)
|
rs1809009738
|
0.00001
|
|
NM_001458.5(FLNC):c.7251+13G>A
|
rs367952484
|
0.00001
|
|
NM_001458.5(FLNC):c.7257G>A (p.Thr2419=)
|
rs201008333
|
0.00001
|
|
NM_001458.5(FLNC):c.7280C>T (p.Ala2427Val)
|
rs1343869103
|
0.00001
|
|
NM_001458.5(FLNC):c.7290C>T (p.Ala2430=)
|
rs373240622
|
0.00001
|
|
NM_001458.5(FLNC):c.7299G>A (p.Leu2433=)
|
rs772998551
|
0.00001
|
|
NM_001458.5(FLNC):c.7302C>T (p.Asn2434=)
|
rs760533029
|
0.00001
|
|
NM_001458.5(FLNC):c.7314C>A (p.Gly2438=)
|
rs765385925
|
0.00001
|
|
NM_001458.5(FLNC):c.7314C>T (p.Gly2438=)
|
rs765385925
|
0.00001
|
|
NM_001458.5(FLNC):c.7328G>A (p.Arg2443Gln)
|
rs370293647
|
0.00001
|
|
NM_001458.5(FLNC):c.7364A>G (p.Tyr2455Cys)
|
rs769298304
|
0.00001
|
|
NM_001458.5(FLNC):c.7365C>T (p.Tyr2455=)
|
rs540386120
|
0.00001
|
|
NM_001458.5(FLNC):c.7390C>G (p.His2464Asp)
|
rs1269055454
|
0.00001
|
|
NM_001458.5(FLNC):c.7399C>T (p.Arg2467Cys)
|
rs1278916117
|
0.00001
|
|
NM_001458.5(FLNC):c.7413C>T (p.His2471=)
|
rs774524427
|
0.00001
|
|
NM_001458.5(FLNC):c.7422C>T (p.Gly2474=)
|
rs755019331
|
0.00001
|
|
NM_001458.5(FLNC):c.7423G>A (p.Val2475Ile)
|
rs191224002
|
0.00001
|
|
NM_001458.5(FLNC):c.7439T>C (p.Val2480Ala)
|
rs1376119645
|
0.00001
|
|
NM_001458.5(FLNC):c.7449C>T (p.Asn2483=)
|
rs761006044
|
0.00001
|
|
NM_001458.5(FLNC):c.7485C>T (p.Arg2495=)
|
rs781056503
|
0.00001
|
|
NM_001458.5(FLNC):c.7491G>A (p.Gly2497=)
|
rs367843476
|
0.00001
|
|
NM_001458.5(FLNC):c.7494G>A (p.Glu2498=)
|
rs749544147
|
0.00001
|
|
NM_001458.5(FLNC):c.7503G>A (p.Gln2501=)
|
rs1270240455
|
0.00001
|
|
NM_001458.5(FLNC):c.7551A>G (p.Gly2517=)
|
rs1283157933
|
0.00001
|
|
NM_001458.5(FLNC):c.7561+7G>T
|
rs1040480789
|
0.00001
|
|
NM_001458.5(FLNC):c.7562-4C>T
|
rs1809097044
|
0.00001
|
|
NM_001458.5(FLNC):c.7562-6C>T
|
rs1450761866
|
0.00001
|
|
NM_001458.5(FLNC):c.7599C>T (p.Ala2533=)
|
rs1184080931
|
0.00001
|
|
NM_001458.5(FLNC):c.760C>T (p.Leu254=)
|
rs1808141451
|
0.00001
|
|
NM_001458.5(FLNC):c.7629T>C (p.Asp2543=)
|
rs1451167404
|
0.00001
|
|
NM_001458.5(FLNC):c.7644G>A (p.Val2548=)
|
rs1249860446
|
0.00001
|
|
NM_001458.5(FLNC):c.7710C>T (p.Asn2570=)
|
rs370733196
|
0.00001
|
|
NM_001458.5(FLNC):c.7722C>T (p.Ala2574=)
|
rs1360192955
|
0.00001
|
|
NM_001458.5(FLNC):c.7749C>T (p.Ile2583=)
|
rs781217114
|
0.00001
|
|
NM_001458.5(FLNC):c.7780+20A>G
|
rs1287178307
|
0.00001
|
|
NM_001458.5(FLNC):c.7781-16T>G
|
rs1418982837
|
0.00001
|
|
NM_001458.5(FLNC):c.7781-8C>A
|
rs1363938739
|
0.00001
|
|
NM_001458.5(FLNC):c.7794C>T (p.Ser2598=)
|
rs1013763254
|
0.00001
|
|
NM_001458.5(FLNC):c.7797A>G (p.Gly2599=)
|
rs1317108204
|
0.00001
|
|
NM_001458.5(FLNC):c.7824G>A (p.Thr2608=)
|
rs776281149
|
0.00001
|
|
NM_001458.5(FLNC):c.7830G>C (p.Leu2610=)
|
rs1032374300
|
0.00001
|
|
NM_001458.5(FLNC):c.7933C>T (p.Leu2645=)
|
rs571671091
|
0.00001
|
|
NM_001458.5(FLNC):c.8013C>T (p.Gly2671=)
|
rs369678123
|
0.00001
|
|
NM_001458.5(FLNC):c.8079T>C (p.Asn2693=)
|
rs376051052
|
0.00001
|
|
NM_001458.5(FLNC):c.8080G>A (p.Val2694Ile)
|
rs765388755
|
0.00001
|
|
NM_001458.5(FLNC):c.8106G>A (p.Gly2702=)
|
rs1408621523
|
0.00001
|
|
NM_001458.5(FLNC):c.8136C>T (p.Asp2712=)
|
rs748104907
|
0.00001
|
|
NM_001458.5(FLNC):c.824C>T (p.Pro275Leu)
|
rs1249075788
|
0.00001
|
|
NM_001458.5(FLNC):c.837C>T (p.Ile279=)
|
rs754916664
|
0.00001
|
|
NM_001458.5(FLNC):c.850+20G>A
|
rs776079280
|
0.00001
|
|
NM_001458.5(FLNC):c.851-5C>T
|
rs758216356
|
0.00001
|
|
NM_001458.5(FLNC):c.855C>T (p.Ile285=)
|
rs540753816
|
0.00001
|
|
NM_001458.5(FLNC):c.906G>A (p.Thr302=)
|
rs758924780
|
0.00001
|
|
NM_001458.5(FLNC):c.986A>G (p.Asn329Ser)
|
rs536935095
|
0.00001
|
|
NM_001927.4(DES):c.1023+14C>T
|
rs899305731
|
0.00001
|
|
NM_001927.4(DES):c.1023+15A>G
|
rs755376246
|
0.00001
|
|
NM_001927.4(DES):c.1023+8C>A
|
rs749582840
|
0.00001
|
|
NM_001927.4(DES):c.1024-9C>T
|
rs201552590
|
0.00001
|
|
NM_001927.4(DES):c.1050G>A (p.Arg350=)
|
rs769505280
|
0.00001
|
|
NM_001927.4(DES):c.1179C>T (p.Asn393=)
|
rs955390251
|
0.00001
|
|
NM_001927.4(DES):c.1180G>A (p.Val394Met)
|
rs776786349
|
0.00001
|
|
NM_001927.4(DES):c.1191C>T (p.Ala397=)
|
rs1157219537
|
0.00001
|
|
NM_001927.4(DES):c.1209C>T (p.Ala403=)
|
rs200054661
|
0.00001
|
|
NM_001927.4(DES):c.1227G>A (p.Leu409=)
|
rs143954788
|
0.00001
|
|
NM_001927.4(DES):c.1272T>C (p.Ser424=)
|
rs370720293
|
0.00001
|
|
NM_001927.4(DES):c.12C>A (p.Ala4=)
|
rs762566962
|
0.00001
|
|
NM_001927.4(DES):c.1335G>A (p.Thr445=)
|
rs780984657
|
0.00001
|
|
NM_001927.4(DES):c.1407G>A (p.Val469=)
|
rs1273197280
|
0.00001
|
|
NM_001927.4(DES):c.150G>T (p.Thr50=)
|
rs1179760415
|
0.00001
|
|
NM_001927.4(DES):c.217C>A (p.Arg73=)
|
rs1954367704
|
0.00001
|
|
NM_001927.4(DES):c.225G>A (p.Gly75=)
|
rs777582958
|
0.00001
|
|
NM_001927.4(DES):c.237G>A (p.Thr79=)
|
rs727503899
|
0.00001
|
|
NM_001927.4(DES):c.261G>A (p.Glu87=)
|
rs770325337
|
0.00001
|
|
NM_001927.4(DES):c.273C>T (p.Phe91=)
|
rs1025329460
|
0.00001
|
|
NM_001927.4(DES):c.282C>G (p.Ala94=)
|
rs397516693
|
0.00001
|
|
NM_001927.4(DES):c.291G>A (p.Val97=)
|
rs775205419
|
0.00001
|
|
NM_001927.4(DES):c.300G>A (p.Glu100=)
|
rs1339030541
|
0.00001
|
|
NM_001927.4(DES):c.348T>C (p.Asn116=)
|
rs766333303
|
0.00001
|
|
NM_001927.4(DES):c.357C>T (p.Phe119=)
|
rs1156903614
|
0.00001
|
|
NM_001927.4(DES):c.402G>A (p.Ala134=)
|
rs369297392
|
0.00001
|
|
NM_001927.4(DES):c.411C>G (p.Ala137=)
|
rs549278754
|
0.00001
|
|
NM_001927.4(DES):c.516G>A (p.Gln172=)
|
rs1014762661
|
0.00001
|
|
NM_001927.4(DES):c.534C>T (p.Val178=)
|
rs1163205960
|
0.00001
|
|
NM_001927.4(DES):c.54C>T (p.Phe18=)
|
rs1420981881
|
0.00001
|
|
NM_001927.4(DES):c.552C>T (p.Leu184=)
|
rs1050510822
|
0.00001
|
|
NM_001927.4(DES):c.559C>T (p.Leu187=)
|
rs1314756792
|
0.00001
|
|
NM_001927.4(DES):c.598T>C (p.Leu200=)
|
rs1320454372
|
0.00001
|
|
NM_001927.4(DES):c.60G>A (p.Gly20=)
|
rs1058253
|
0.00001
|
|
NM_001927.4(DES):c.621T>C (p.Asn207=)
|
rs763036386
|
0.00001
|
|
NM_001927.4(DES):c.640-10C>T
|
rs750812904
|
0.00001
|
|
NM_001927.4(DES):c.640-17C>T
|
rs762068048
|
0.00001
|
|
NM_001927.4(DES):c.640-4C>G
|
rs375680081
|
0.00001
|
|
NM_001927.4(DES):c.673C>T (p.Leu225=)
|
rs774330779
|
0.00001
|
|
NM_001927.4(DES):c.714C>T (p.Phe238=)
|
rs780896752
|
0.00001
|
|
NM_001927.4(DES):c.816C>T (p.Ala272=)
|
rs759823001
|
0.00001
|
|
NM_001927.4(DES):c.822C>T (p.Leu274=)
|
rs763599850
|
0.00001
|
|
NM_001927.4(DES):c.855G>A (p.Ala285=)
|
rs139818514
|
0.00001
|
|
NM_001927.4(DES):c.894G>A (p.Ser298=)
|
rs747073500
|
0.00001
|
|
NM_001927.4(DES):c.897+12C>T
|
rs771116995
|
0.00001
|
|
NM_001927.4(DES):c.897+17G>A
|
rs137945254
|
0.00001
|
|
NM_001927.4(DES):c.898-5C>T
|
rs371053066
|
0.00001
|
|
NM_001927.4(DES):c.912C>T (p.Thr304=)
|
rs778826152
|
0.00001
|
|
NM_001943.5(DSG2):c.1017A>G (p.Glu339=)
|
rs1325947416
|
0.00001
|
|
NM_001943.5(DSG2):c.1056T>A (p.Val352=)
|
rs969901158
|
0.00001
|
|
NM_001943.5(DSG2):c.108G>A (p.Lys36=)
|
rs761947230
|
0.00001
|
|
NM_001943.5(DSG2):c.1116C>G (p.Pro372=)
|
rs542079618
|
0.00001
|
|
NM_001943.5(DSG2):c.1173C>T (p.Ser391=)
|
rs763242004
|
0.00001
|
|
NM_001943.5(DSG2):c.1209A>G (p.Arg403=)
|
rs1467727719
|
0.00001
|
|
NM_001943.5(DSG2):c.1251T>C (p.Asp417=)
|
rs942476545
|
0.00001
|
|
NM_001943.5(DSG2):c.1280+8A>G
|
rs377662063
|
0.00001
|
|
NM_001943.5(DSG2):c.1281-16G>T
|
rs756914573
|
0.00001
|
|
NM_001943.5(DSG2):c.1281A>G (p.Arg427=)
|
rs370547219
|
0.00001
|
|
NM_001943.5(DSG2):c.1284T>C (p.Tyr428=)
|
rs202095254
|
0.00001
|
|
NM_001943.5(DSG2):c.1434A>G (p.Arg478=)
|
rs755732646
|
0.00001
|
|
NM_001943.5(DSG2):c.1458T>C (p.Leu486=)
|
rs779518495
|
0.00001
|
|
NM_001943.5(DSG2):c.1479C>T (p.Asn493=)
|
rs778100657
|
0.00001
|
|
NM_001943.5(DSG2):c.1533G>A (p.Glu511=)
|
rs754553761
|
0.00001
|
|
NM_001943.5(DSG2):c.1596C>T (p.Ser532=)
|
rs775653162
|
0.00001
|
|
NM_001943.5(DSG2):c.159C>T (p.Thr53=)
|
rs959566645
|
0.00001
|
|
NM_001943.5(DSG2):c.1652-8C>T
|
rs770497608
|
0.00001
|
|
NM_001943.5(DSG2):c.1758T>C (p.Leu586=)
|
rs773812422
|
0.00001
|
|
NM_001943.5(DSG2):c.1791C>T (p.Ser597=)
|
rs768167385
|
0.00001
|
|
NM_001943.5(DSG2):c.1821T>C (p.Tyr607=)
|
rs1230368091
|
0.00001
|
|
NM_001943.5(DSG2):c.1836C>T (p.Pro612=)
|
rs374288967
|
0.00001
|
|
NM_001943.5(DSG2):c.1880-11T>C
|
rs779853197
|
0.00001
|
|
NM_001943.5(DSG2):c.1880-6G>A
|
rs1264314764
|
0.00001
|
|
NM_001943.5(DSG2):c.192G>A (p.Leu64=)
|
rs1377946410
|
0.00001
|
|
NM_001943.5(DSG2):c.1947C>T (p.Gly649=)
|
rs1331421711
|
0.00001
|
|
NM_001943.5(DSG2):c.2010A>G (p.Pro670=)
|
rs777621113
|
0.00001
|
|
NM_001943.5(DSG2):c.2136C>T (p.Ser712=)
|
rs762885119
|
0.00001
|
|
NM_001943.5(DSG2):c.222T>C (p.His74=)
|
rs367797047
|
0.00001
|
|
NM_001943.5(DSG2):c.2274C>T (p.Ala758=)
|
rs778950229
|
0.00001
|
|
NM_001943.5(DSG2):c.2334+18G>T
|
rs367606402
|
0.00001
|
|
NM_001943.5(DSG2):c.2335-8C>G
|
rs561964101
|
0.00001
|
|
NM_001943.5(DSG2):c.2335-9T>C
|
rs757355636
|
0.00001
|
|
NM_001943.5(DSG2):c.2397T>C (p.Tyr799=)
|
rs200201181
|
0.00001
|
|
NM_001943.5(DSG2):c.2418G>A (p.Ser806=)
|
rs751831001
|
0.00001
|
|
NM_001943.5(DSG2):c.2424T>C (p.Asn808=)
|
rs1288711942
|
0.00001
|
|
NM_001943.5(DSG2):c.2436T>C (p.Gly812=)
|
rs551487195
|
0.00001
|
|
NM_001943.5(DSG2):c.2442C>T (p.Cys814=)
|
rs1394059699
|
0.00001
|
|
NM_001943.5(DSG2):c.2538T>C (p.Asp846=)
|
rs755061815
|
0.00001
|
|
NM_001943.5(DSG2):c.2583A>G (p.Thr861=)
|
rs774775322
|
0.00001
|
|
NM_001943.5(DSG2):c.2628T>C (p.Val876=)
|
rs775842543
|
0.00001
|
|
NM_001943.5(DSG2):c.2679T>C (p.Ser893=)
|
rs1432407239
|
0.00001
|
|
NM_001943.5(DSG2):c.2691C>G (p.Ala897=)
|
rs576107985
|
0.00001
|
|
NM_001943.5(DSG2):c.269C>T (p.Thr90Ile)
|
rs772744115
|
0.00001
|
|
NM_001943.5(DSG2):c.2742T>C (p.Ser914=)
|
rs529198523
|
0.00001
|
|
NM_001943.5(DSG2):c.2750C>T (p.Ala917Val)
|
rs775670183
|
0.00001
|
|
NM_001943.5(DSG2):c.2751G>A (p.Ala917=)
|
rs763063602
|
0.00001
|
|
NM_001943.5(DSG2):c.2754A>G (p.Gln918=)
|
rs764157519
|
0.00001
|
|
NM_001943.5(DSG2):c.297T>C (p.Phe99=)
|
rs1045965107
|
0.00001
|
|
NM_001943.5(DSG2):c.2991T>A (p.Gly997=)
|
rs765129273
|
0.00001
|
|
NM_001943.5(DSG2):c.31C>T (p.Leu11=)
|
rs1220091298
|
0.00001
|
|
NM_001943.5(DSG2):c.3279T>C (p.Ser1093=)
|
rs758768074
|
0.00001
|
|
NM_001943.5(DSG2):c.3309T>C (p.Ser1103=)
|
rs1195224927
|
0.00001
|
|
NM_001943.5(DSG2):c.3354C>G (p.Ser1118=)
|
rs879254344
|
0.00001
|
|
NM_001943.5(DSG2):c.379-4T>C
|
rs753141182
|
0.00001
|
|
NM_001943.5(DSG2):c.447T>C (p.Val149=)
|
rs1389484271
|
0.00001
|
|
NM_001943.5(DSG2):c.45+19A>G
|
rs764211843
|
0.00001
|
|
NM_001943.5(DSG2):c.46-11T>C
|
rs757891590
|
0.00001
|
|
NM_001943.5(DSG2):c.465C>T (p.Asn155=)
|
rs751814575
|
0.00001
|
|
NM_001943.5(DSG2):c.511T>C (p.Leu171=)
|
rs1271440899
|
0.00001
|
|
NM_001943.5(DSG2):c.561T>C (p.Asp187=)
|
rs573318445
|
0.00001
|
|
NM_001943.5(DSG2):c.582G>A (p.Ser194=)
|
rs748768578
|
0.00001
|
|
NM_001943.5(DSG2):c.624T>G (p.Pro208=)
|
rs1275487240
|
0.00001
|
|
NM_001943.5(DSG2):c.633C>T (p.Phe211=)
|
rs2073132518
|
0.00001
|
|
NM_001943.5(DSG2):c.648T>C (p.Asp216=)
|
rs1235715453
|
0.00001
|
|
NM_001943.5(DSG2):c.690+12T>C
|
rs779806555
|
0.00001
|
|
NM_001943.5(DSG2):c.693A>G (p.Glu231=)
|
rs775582591
|
0.00001
|
|
NM_001943.5(DSG2):c.720A>G (p.Glu240=)
|
rs756024562
|
0.00001
|
|
NM_001943.5(DSG2):c.789G>A (p.Leu263=)
|
rs1389678806
|
0.00001
|
|
NM_001943.5(DSG2):c.795C>G (p.Val265=)
|
rs771324254
|
0.00001
|
|
NM_001943.5(DSG2):c.81+7A>G
|
rs763204534
|
0.00001
|
|
NM_001943.5(DSG2):c.813A>G (p.Val271=)
|
rs769992634
|
0.00001
|
|
NM_001943.5(DSG2):c.829-18T>C
|
rs1014175452
|
0.00001
|
|
NM_001943.5(DSG2):c.829-5T>C
|
rs373438324
|
0.00001
|
|
NM_001943.5(DSG2):c.939A>C (p.Ala313=)
|
rs1191660971
|
0.00001
|
|
NM_001943.5(DSG2):c.942A>G (p.Ser314=)
|
rs780279875
|
0.00001
|
|
NM_001943.5(DSG2):c.990C>T (p.Asn330=)
|
rs140575919
|
0.00001
|
|
NM_001943.5(DSG2):c.996A>G (p.Gly332=)
|
rs1568106929
|
0.00001
|
|
NM_001985.3(ETFB):c.151C>A (p.Arg51=)
|
rs1308673942
|
0.00001
|
|
NM_001985.3(ETFB):c.189C>T (p.Ala63=)
|
rs267605609
|
0.00001
|
|
NM_001985.3(ETFB):c.439-14C>T
|
rs756770328
|
0.00001
|
|
NM_001985.3(ETFB):c.57+16del
|
rs529887209
|
0.00001
|
|
NM_001985.3(ETFB):c.597+8C>T
|
rs758639864
|
0.00001
|
|
NM_001985.3(ETFB):c.598-14C>T
|
rs750381743
|
0.00001
|
|
NM_001985.3(ETFB):c.90C>A (p.Val30=)
|
rs1986016385
|
0.00001
|
|
NM_002230.4(JUP):c.1017C>T (p.Ser339=)
|
rs782357007
|
0.00001
|
|
NM_002230.4(JUP):c.1055-12T>A
|
rs782667212
|
0.00001
|
|
NM_002230.4(JUP):c.1055-8T>C
|
rs1394581499
|
0.00001
|
|
NM_002230.4(JUP):c.1059G>A (p.Gly353=)
|
rs782648533
|
0.00001
|
|
NM_002230.4(JUP):c.1080C>T (p.His360=)
|
rs1406214813
|
0.00001
|
|
NM_002230.4(JUP):c.108C>T (p.Ser36=)
|
rs371142035
|
0.00001
|
|
NM_002230.4(JUP):c.1125C>T (p.Thr375=)
|
rs782108002
|
0.00001
|
|
NM_002230.4(JUP):c.1128G>A (p.Leu376=)
|
rs781926392
|
0.00001
|
|
NM_002230.4(JUP):c.1158+10G>T
|
rs199917743
|
0.00001
|
|
NM_002230.4(JUP):c.1165C>T (p.Leu389=)
|
rs1057523570
|
0.00001
|
|
NM_002230.4(JUP):c.1299C>T (p.Ser433=)
|
rs376345105
|
0.00001
|
|
NM_002230.4(JUP):c.1327C>T (p.Leu443=)
|
rs140537908
|
0.00001
|
|
NM_002230.4(JUP):c.1347C>T (p.Asp449=)
|
rs763261901
|
0.00001
|
|
NM_002230.4(JUP):c.1380C>T (p.Arg460=)
|
rs782212737
|
0.00001
|
|
NM_002230.4(JUP):c.1470C>T (p.Asn490=)
|
rs149248322
|
0.00001
|
|
NM_002230.4(JUP):c.1500A>T (p.Ala500=)
|
rs869025443
|
0.00001
|
|
NM_002230.4(JUP):c.1506C>T (p.Ile502=)
|
rs372963143
|
0.00001
|
|
NM_002230.4(JUP):c.1551G>A (p.Pro517=)
|
rs988891105
|
0.00001
|
|
NM_002230.4(JUP):c.1566G>A (p.Ala522=)
|
rs547437428
|
0.00001
|
|
NM_002230.4(JUP):c.1599G>A (p.Lys533=)
|
rs150699961
|
0.00001
|
|
NM_002230.4(JUP):c.1623C>T (p.His541=)
|
rs782477974
|
0.00001
|
|
NM_002230.4(JUP):c.1762C>T (p.Leu588=)
|
rs781900856
|
0.00001
|
|
NM_002230.4(JUP):c.1770G>A (p.Val590=)
|
rs782444566
|
0.00001
|
|
NM_002230.4(JUP):c.1774-16C>T
|
rs371727352
|
0.00001
|
|
NM_002230.4(JUP):c.1774-8C>T
|
rs781837434
|
0.00001
|
|
NM_002230.4(JUP):c.1785G>A (p.Ser595=)
|
rs782816522
|
0.00001
|
|
NM_002230.4(JUP):c.1815C>T (p.Ala605=)
|
rs543862977
|
0.00001
|
|
NM_002230.4(JUP):c.1851G>A (p.Ala617=)
|
rs1031612674
|
0.00001
|
|
NM_002230.4(JUP):c.1854C>T (p.Ala618=)
|
rs782176670
|
0.00001
|
|
NM_002230.4(JUP):c.1908C>T (p.Ser636=)
|
rs782122765
|
0.00001
|
|
NM_002230.4(JUP):c.1924+14G>T
|
rs201959663
|
0.00001
|
|
NM_002230.4(JUP):c.192G>A (p.Gly64=)
|
rs141237794
|
0.00001
|
|
NM_002230.4(JUP):c.2013C>T (p.Ser671=)
|
rs1326867934
|
0.00001
|
|
NM_002230.4(JUP):c.2086+18T>A
|
rs782095299
|
0.00001
|
|
NM_002230.4(JUP):c.2086+7G>C
|
rs727504940
|
0.00001
|
|
NM_002230.4(JUP):c.2087-5C>T
|
rs886052917
|
0.00001
|
|
NM_002230.4(JUP):c.209-12C>G
|
rs201194744
|
0.00001
|
|
NM_002230.4(JUP):c.209-8G>A
|
rs1165044090
|
0.00001
|
|
NM_002230.4(JUP):c.210T>C (p.Gly70=)
|
rs782504602
|
0.00001
|
|
NM_002230.4(JUP):c.2121C>T (p.Ser707=)
|
rs1477036549
|
0.00001
|
|
NM_002230.4(JUP):c.2193C>T (p.Asp731=)
|
rs199683273
|
0.00001
|
|
NM_002230.4(JUP):c.252G>A (p.Arg84=)
|
rs1555605953
|
0.00001
|
|
NM_002230.4(JUP):c.346C>T (p.Leu116=)
|
rs147121864
|
0.00001
|
|
NM_002230.4(JUP):c.411C>T (p.Ala137=)
|
rs782089101
|
0.00001
|
|
NM_002230.4(JUP):c.414G>A (p.Glu138=)
|
rs370003514
|
0.00001
|
|
NM_002230.4(JUP):c.469-12T>C
|
rs782699765
|
0.00001
|
|
NM_002230.4(JUP):c.469-16del
|
rs782421393
|
0.00001
|
|
NM_002230.4(JUP):c.525G>A (p.Ser175=)
|
rs782794110
|
0.00001
|
|
NM_002230.4(JUP):c.591C>T (p.Ser197=)
|
rs781813778
|
0.00001
|
|
NM_002230.4(JUP):c.648G>C (p.Arg216=)
|
rs781795344
|
0.00001
|
|
NM_002230.4(JUP):c.705C>T (p.Leu235=)
|
rs887639693
|
0.00001
|
|
NM_002230.4(JUP):c.707+7A>G
|
rs373101758
|
0.00001
|
|
NM_002230.4(JUP):c.708-12C>G
|
rs781970079
|
0.00001
|
|
NM_002230.4(JUP):c.708-7C>T
|
rs397517301
|
0.00001
|
|
NM_002230.4(JUP):c.750G>A (p.Leu250=)
|
rs148381639
|
0.00001
|
|
NM_002230.4(JUP):c.807G>T (p.Gly269=)
|
rs781992518
|
0.00001
|
|
NM_002230.4(JUP):c.870C>T (p.Asp290=)
|
rs1915903703
|
0.00001
|
|
NM_002230.4(JUP):c.87C>T (p.Gly29=)
|
rs199530395
|
0.00001
|
|
NM_002230.4(JUP):c.910-5C>T
|
rs1750432359
|
0.00001
|
|
NM_002230.4(JUP):c.936C>G (p.Pro312=)
|
rs375094290
|
0.00001
|
|
NM_002230.4(JUP):c.942C>T (p.Ala314=)
|
rs782573436
|
0.00001
|
|
NM_002230.4(JUP):c.969T>C (p.Ser323=)
|
rs868945297
|
0.00001
|
|
NM_002230.4(JUP):c.990C>T (p.Thr330=)
|
rs1057521340
|
0.00001
|
|
NM_002471.4(MYH6):c.114C>T (p.Phe38=)
|
rs777057620
|
0.00001
|
|
NM_002471.4(MYH6):c.1158C>T (p.Ala386=)
|
rs142169847
|
0.00001
|
|
NM_002471.4(MYH6):c.1326G>A (p.Thr442=)
|
rs753690274
|
0.00001
|
|
NM_002471.4(MYH6):c.1368C>T (p.Tyr456=)
|
rs1060504231
|
0.00001
|
|
NM_002471.4(MYH6):c.1407C>T (p.Phe469=)
|
rs757234479
|
0.00001
|
|
NM_002471.4(MYH6):c.1410+8G>C
|
rs1891573190
|
0.00001
|
|
NM_002471.4(MYH6):c.1411-12T>C
|
rs749244720
|
0.00001
|
|
NM_002471.4(MYH6):c.1411-9C>T
|
rs542025037
|
0.00001
|
|
NM_002471.4(MYH6):c.1443C>T (p.Phe481=)
|
rs1373510347
|
0.00001
|
|
NM_002471.4(MYH6):c.1486G>A (p.Val496Met)
|
rs761085263
|
0.00001
|
|
NM_002471.4(MYH6):c.1582-12C>T
|
rs574931386
|
0.00001
|
|
NM_002471.4(MYH6):c.177C>T (p.Val59=)
|
rs1405820695
|
0.00001
|
|
NM_002471.4(MYH6):c.1809C>T (p.Asn603=)
|
rs186134696
|
0.00001
|
|
NM_002471.4(MYH6):c.1860T>G (p.Thr620=)
|
rs562851085
|
0.00001
|
|
NM_002471.4(MYH6):c.1892-14C>T
|
rs573517144
|
0.00001
|
|
NM_002471.4(MYH6):c.1892-9G>A
|
rs747852537
|
0.00001
|
|
NM_002471.4(MYH6):c.1950G>A (p.Ser650=)
|
rs752964239
|
0.00001
|
|
NM_002471.4(MYH6):c.2050+12G>A
|
rs367938889
|
0.00001
|
|
NM_002471.4(MYH6):c.2067C>T (p.Pro689=)
|
rs775834885
|
0.00001
|
|
NM_002471.4(MYH6):c.2175C>T (p.Arg725=)
|
rs768890448
|
0.00001
|
|
NM_002471.4(MYH6):c.2430-13G>A
|
rs527824020
|
0.00001
|
|
NM_002471.4(MYH6):c.252C>T (p.Phe84=)
|
rs397516757
|
0.00001
|
|
NM_002471.4(MYH6):c.2547G>A (p.Lys849=)
|
rs770629886
|
0.00001
|
|
NM_002471.4(MYH6):c.2592G>A (p.Thr864=)
|
rs752148935
|
0.00001
|
|
NM_002471.4(MYH6):c.2649G>A (p.Leu883=)
|
rs1364326476
|
0.00001
|
|
NM_002471.4(MYH6):c.2664C>T (p.Asp888=)
|
rs755699724
|
0.00001
|
|
NM_002471.4(MYH6):c.3099G>A (p.Val1033=)
|
rs949717573
|
0.00001
|
|
NM_002471.4(MYH6):c.3105+17A>G
|
rs201296501
|
0.00001
|
|
NM_002471.4(MYH6):c.3105+8G>A
|
rs940951780
|
0.00001
|
|
NM_002471.4(MYH6):c.3138G>A (p.Val1046=)
|
rs930800874
|
0.00001
|
|
NM_002471.4(MYH6):c.3189G>C (p.Leu1063=)
|
rs745729273
|
0.00001
|
|
NM_002471.4(MYH6):c.3220G>A (p.Asp1074Asn)
|
rs375169402
|
0.00001
|
|
NM_002471.4(MYH6):c.3251+16G>A
|
rs760288146
|
0.00001
|
|
NM_002471.4(MYH6):c.333C>A (p.Ala111=)
|
rs774402902
|
0.00001
|
|
NM_002471.4(MYH6):c.3387C>T (p.Thr1129=)
|
rs759574705
|
0.00001
|
|
NM_002471.4(MYH6):c.3393G>A (p.Arg1131=)
|
rs529107714
|
0.00001
|
|
NM_002471.4(MYH6):c.3465C>T (p.Ala1155=)
|
rs749057068
|
0.00001
|
|
NM_002471.4(MYH6):c.3597C>T (p.Ala1199=)
|
rs1269257633
|
0.00001
|
|
NM_002471.4(MYH6):c.3696C>T (p.Asp1232=)
|
rs779525060
|
0.00001
|
|
NM_002471.4(MYH6):c.3733-19C>T
|
rs753409868
|
0.00001
|
|
NM_002471.4(MYH6):c.3733-7C>T
|
rs1484310040
|
0.00001
|
|
NM_002471.4(MYH6):c.3786C>T (p.Arg1262=)
|
rs775907910
|
0.00001
|
|
NM_002471.4(MYH6):c.3852C>T (p.Thr1284=)
|
rs141143152
|
0.00001
|
|
NM_002471.4(MYH6):c.3859+7G>A
|
rs748958937
|
0.00001
|
|
NM_002471.4(MYH6):c.3876G>A (p.Gln1292=)
|
rs145290322
|
0.00001
|
|
NM_002471.4(MYH6):c.3909G>C (p.Leu1303=)
|
rs572682388
|
0.00001
|
|
NM_002471.4(MYH6):c.3954A>G (p.Lys1318=)
|
rs1045998017
|
0.00001
|
|
NM_002471.4(MYH6):c.396G>A (p.Pro132=)
|
rs369139462
|
0.00001
|
|
NM_002471.4(MYH6):c.3981G>A (p.Ala1327=)
|
rs904695058
|
0.00001
|
|
NM_002471.4(MYH6):c.4027G>A (p.Asp1343Asn)
|
rs761711033
|
0.00001
|
|
NM_002471.4(MYH6):c.4071C>T (p.Ala1357=)
|
rs147328051
|
0.00001
|
|
NM_002471.4(MYH6):c.4176-11C>T
|
rs202233178
|
0.00001
|
|
NM_002471.4(MYH6):c.4176-6G>T
|
rs760780588
|
0.00001
|
|
NM_002471.4(MYH6):c.4281A>C (p.Ile1427=)
|
rs767944859
|
0.00001
|
|
NM_002471.4(MYH6):c.4299C>T (p.Asp1433=)
|
rs765006624
|
0.00001
|
|
NM_002471.4(MYH6):c.4360-9C>T
|
rs1278744706
|
0.00001
|
|
NM_002471.4(MYH6):c.4392G>A (p.Glu1464=)
|
rs141811321
|
0.00001
|
|
NM_002471.4(MYH6):c.4443A>G (p.Thr1481=)
|
rs1891081885
|
0.00001
|
|
NM_002471.4(MYH6):c.4526-4C>T
|
rs751782442
|
0.00001
|
|
NM_002471.4(MYH6):c.4632A>G (p.Ser1544=)
|
rs925904347
|
0.00001
|
|
NM_002471.4(MYH6):c.4651-9C>A
|
rs1427589559
|
0.00001
|
|
NM_002471.4(MYH6):c.4698G>A (p.Glu1566=)
|
rs542799440
|
0.00001
|
|
NM_002471.4(MYH6):c.4839C>T (p.Val1613=)
|
rs753478528
|
0.00001
|
|
NM_002471.4(MYH6):c.4923C>T (p.Ala1641=)
|
rs755556624
|
0.00001
|
|
NM_002471.4(MYH6):c.4959+20C>G
|
rs1891018867
|
0.00001
|
|
NM_002471.4(MYH6):c.4971C>T (p.Ile1657=)
|
rs566793615
|
0.00001
|
|
NM_002471.4(MYH6):c.5020G>A (p.Ala1674Thr)
|
rs534560839
|
0.00001
|
|
NM_002471.4(MYH6):c.5025C>T (p.Ile1675=)
|
rs763337280
|
0.00001
|
|
NM_002471.4(MYH6):c.503-15T>C
|
rs1891742494
|
0.00001
|
|
NM_002471.4(MYH6):c.503-16C>T
|
rs767894949
|
0.00001
|
|
NM_002471.4(MYH6):c.5142G>A (p.Arg1714=)
|
rs755986916
|
0.00001
|
|
NM_002471.4(MYH6):c.5223G>A (p.Ser1741=)
|
rs368828361
|
0.00001
|
|
NM_002471.4(MYH6):c.5232G>A (p.Glu1744=)
|
rs1386717355
|
0.00001
|
|
NM_002471.4(MYH6):c.5250C>T (p.Cys1750=)
|
rs1322313576
|
0.00001
|
|
NM_002471.4(MYH6):c.5290-11C>G
|
rs764779081
|
0.00001
|
|
NM_002471.4(MYH6):c.531-6C>T
|
rs755395894
|
0.00001
|
|
NM_002471.4(MYH6):c.5403G>A (p.Glu1801=)
|
rs762151922
|
0.00001
|
|
NM_002471.4(MYH6):c.540C>T (p.Ser180=)
|
rs766589542
|
0.00001
|
|
NM_002471.4(MYH6):c.5445G>A (p.Gln1815=)
|
rs979327556
|
0.00001
|
|
NM_002471.4(MYH6):c.5472G>A (p.Leu1824=)
|
rs1890959581
|
0.00001
|
|
NM_002471.4(MYH6):c.5508A>G (p.Ala1836=)
|
rs193922654
|
0.00001
|
|
NM_002471.4(MYH6):c.5553G>A (p.Glu1851=)
|
rs763313787
|
0.00001
|
|
NM_002471.4(MYH6):c.5565+8G>A
|
rs751363583
|
0.00001
|
|
NM_002471.4(MYH6):c.5623C>T (p.Leu1875=)
|
rs368604132
|
0.00001
|
|
NM_002471.4(MYH6):c.5742C>T (p.Ile1914=)
|
rs781733700
|
0.00001
|
|
NM_002471.4(MYH6):c.627T>C (p.Asn209=)
|
rs751659257
|
0.00001
|
|
NM_002471.4(MYH6):c.651G>A (p.Leu217=)
|
rs1262690268
|
0.00001
|
|
NM_002471.4(MYH6):c.6C>T (p.Thr2=)
|
rs770253223
|
0.00001
|
|
NM_002471.4(MYH6):c.717C>T (p.Asn239=)
|
rs201599891
|
0.00001
|
|
NM_002471.4(MYH6):c.726C>T (p.Ser242=)
|
rs1349997048
|
0.00001
|
|
NM_002471.4(MYH6):c.786A>G (p.Ala262=)
|
rs932758512
|
0.00001
|
|
NM_002471.4(MYH6):c.799+19G>A
|
rs1326574690
|
0.00001
|
|
NM_002471.4(MYH6):c.800-7A>C
|
rs538318997
|
0.00001
|
|
NM_002471.4(MYH6):c.852C>T (p.Tyr284=)
|
rs1168415754
|
0.00001
|
|
NM_002471.4(MYH6):c.855C>T (p.His285=)
|
rs895857373
|
0.00001
|
|
NM_002471.4(MYH6):c.927C>T (p.Tyr309=)
|
rs748779752
|
0.00001
|
|
NM_002633.3(PGM1):c.1144+16G>A
|
rs755514698
|
0.00001
|
|
NM_002633.3(PGM1):c.1476C>T (p.Leu492=)
|
rs1649899491
|
0.00001
|
|
NM_002633.3(PGM1):c.1485A>G (p.Thr495=)
|
rs1172911815
|
0.00001
|
|
NM_002633.3(PGM1):c.159G>A (p.Gln53=)
|
rs370087543
|
0.00001
|
|
NM_002633.3(PGM1):c.1614C>T (p.Pro538=)
|
rs775453982
|
0.00001
|
|
NM_002633.3(PGM1):c.327T>C (p.Ile109=)
|
rs770271653
|
0.00001
|
|
NM_003280.3(TNNC1):c.202+12C>T
|
rs760268974
|
0.00001
|
|
NM_003280.3(TNNC1):c.203-16T>C
|
rs765306660
|
0.00001
|
|
NM_003280.3(TNNC1):c.222T>C (p.Phe74=)
|
rs746394204
|
0.00001
|
|
NM_003280.3(TNNC1):c.25-19G>A
|
rs1447575041
|
0.00001
|
|
NM_003280.3(TNNC1):c.317+18G>A
|
rs905452034
|
0.00001
|
|
NM_003280.3(TNNC1):c.327T>C (p.Asp109=)
|
rs1191773624
|
0.00001
|
|
NM_003280.3(TNNC1):c.336C>T (p.Ile112=)
|
rs763584637
|
0.00001
|
|
NM_003280.3(TNNC1):c.372A>G (p.Thr124=)
|
rs1421384434
|
0.00001
|
|
NM_003280.3(TNNC1):c.384C>T (p.Ile128=)
|
rs1578263808
|
0.00001
|
|
NM_003280.3(TNNC1):c.454+7G>A
|
rs747842576
|
0.00001
|
|
NM_003280.3(TNNC1):c.455-18C>T
|
rs763016039
|
0.00001
|
|
NM_003280.3(TNNC1):c.456G>A (p.Glu152=)
|
rs568828576
|
0.00001
|
|
NM_003280.3(TNNC1):c.483G>A (p.Glu161=)
|
rs926673131
|
0.00001
|
|
NM_003280.3(TNNC1):c.55+9C>A
|
rs750647348
|
0.00001
|
|
NM_003280.3(TNNC1):c.81C>T (p.Phe27=)
|
rs756483143
|
0.00001
|
|
NM_003280.3(TNNC1):c.90C>T (p.Gly30=)
|
rs149647795
|
0.00001
|
|
NM_003476.5(CSRP3):c.141G>A (p.Thr47=)
|
rs758842207
|
0.00001
|
|
NM_003476.5(CSRP3):c.15C>T (p.Gly5=)
|
rs747959696
|
0.00001
|
|
NM_003476.5(CSRP3):c.201C>T (p.Gly67=)
|
rs557643642
|
0.00001
|
|
NM_003476.5(CSRP3):c.210G>A (p.Gly70=)
|
rs1330897950
|
0.00001
|
|
NM_003476.5(CSRP3):c.228C>T (p.Gly76=)
|
rs768767452
|
0.00001
|
|
NM_003476.5(CSRP3):c.261T>C (p.His87=)
|
rs773476497
|
0.00001
|
|
NM_003476.5(CSRP3):c.264C>A (p.Leu88=)
|
rs758256351
|
0.00001
|
|
NM_003476.5(CSRP3):c.279A>G (p.Gln93=)
|
rs1394545167
|
0.00001
|
|
NM_003476.5(CSRP3):c.309C>G (p.Thr103=)
|
rs1273565241
|
0.00001
|
|
NM_003476.5(CSRP3):c.339G>A (p.Lys113=)
|
rs1394465819
|
0.00001
|
|
NM_003476.5(CSRP3):c.351C>T (p.Ser117=)
|
rs766621810
|
0.00001
|
|
NM_003476.5(CSRP3):c.414+16T>C
|
rs778831593
|
0.00001
|
|
NM_003476.5(CSRP3):c.465G>A (p.Glu155=)
|
rs200334242
|
0.00001
|
|
NM_003476.5(CSRP3):c.48C>T (p.Thr16=)
|
rs753120437
|
0.00001
|
|
NM_003476.5(CSRP3):c.501T>C (p.Tyr167=)
|
rs1161551238
|
0.00001
|
|
NM_003476.5(CSRP3):c.509-16C>T
|
rs371700321
|
0.00001
|
|
NM_003476.5(CSRP3):c.513C>T (p.Cys171=)
|
rs376799144
|
0.00001
|
|
NM_003476.5(CSRP3):c.516T>C (p.Tyr172=)
|
rs727504575
|
0.00001
|
|
NM_003476.5(CSRP3):c.538G>T (p.Gly180Cys)
|
rs547374738
|
0.00001
|
|
NM_003476.5(CSRP3):c.90C>T (p.Phe30=)
|
rs772727223
|
0.00001
|
|
NM_003673.4(TCAP):c.102C>T (p.Pro34=)
|
rs1060504770
|
0.00001
|
|
NM_003673.4(TCAP):c.108G>A (p.Glu36=)
|
rs748882218
|
0.00001
|
|
NM_003673.4(TCAP):c.168G>A (p.Gln56=)
|
rs1060504769
|
0.00001
|
|
NM_003673.4(TCAP):c.186G>A (p.Gln62=)
|
rs1201846776
|
0.00001
|
|
NM_003673.4(TCAP):c.195C>G (p.Pro65=)
|
rs370118201
|
0.00001
|
|
NM_003673.4(TCAP):c.225C>T (p.Gly75=)
|
rs754744780
|
0.00001
|
|
NM_003673.4(TCAP):c.24C>T (p.Cys8=)
|
rs756548785
|
0.00001
|
|
NM_003673.4(TCAP):c.282C>T (p.Phe94=)
|
rs749565002
|
0.00001
|
|
NM_003673.4(TCAP):c.300C>T (p.Gly100=)
|
rs187261074
|
0.00001
|
|
NM_003673.4(TCAP):c.390C>G (p.Arg130=)
|
rs1314875137
|
0.00001
|
|
NM_003673.4(TCAP):c.423C>T (p.Pro141=)
|
rs1360918794
|
0.00001
|
|
NM_003673.4(TCAP):c.483C>T (p.Ser161=)
|
rs1213356091
|
0.00001
|
|
NM_003803.4(MYOM1):c.1017T>C (p.Ile339=)
|
rs751273477
|
0.00001
|
|
NM_003803.4(MYOM1):c.1059G>A (p.Ser353=)
|
rs544571912
|
0.00001
|
|
NM_003803.4(MYOM1):c.1062G>A (p.Ala354=)
|
rs763462534
|
0.00001
|
|
NM_003803.4(MYOM1):c.1125G>A (p.Glu375=)
|
rs1060504723
|
0.00001
|
|
NM_003803.4(MYOM1):c.120C>G (p.Thr40=)
|
rs876657535
|
0.00001
|
|
NM_003803.4(MYOM1):c.1397C>T (p.Thr466Met)
|
rs561012778
|
0.00001
|
|
NM_003803.4(MYOM1):c.1428T>C (p.Asp476=)
|
rs926191703
|
0.00001
|
|
NM_003803.4(MYOM1):c.1662T>C (p.Asp554=)
|
rs775439669
|
0.00001
|
|
NM_003803.4(MYOM1):c.171G>A (p.Glu57=)
|
rs780080774
|
0.00001
|
|
NM_003803.4(MYOM1):c.1851C>T (p.Pro617=)
|
rs2080181563
|
0.00001
|
|
NM_003803.4(MYOM1):c.1901-11T>C
|
rs763807722
|
0.00001
|
|
NM_003803.4(MYOM1):c.1902G>A (p.Glu634=)
|
rs533611178
|
0.00001
|
|
NM_003803.4(MYOM1):c.1923G>A (p.Pro641=)
|
rs372487842
|
0.00001
|
|
NM_003803.4(MYOM1):c.1950C>G (p.Thr650=)
|
rs1221080835
|
0.00001
|
|
NM_003803.4(MYOM1):c.1965G>A (p.Val655=)
|
rs998287871
|
0.00001
|
|
NM_003803.4(MYOM1):c.2025+10T>G
|
rs972434580
|
0.00001
|
|
NM_003803.4(MYOM1):c.2026-16C>T
|
rs2079949063
|
0.00001
|
|
NM_003803.4(MYOM1):c.2109C>T (p.Ala703=)
|
rs758951278
|
0.00001
|
|
NM_003803.4(MYOM1):c.2115G>A (p.Gly705=)
|
rs759539330
|
0.00001
|
|
NM_003803.4(MYOM1):c.2172A>C (p.Ser724=)
|
rs778168118
|
0.00001
|
|
NM_003803.4(MYOM1):c.2325G>A (p.Ala775=)
|
rs757375895
|
0.00001
|
|
NM_003803.4(MYOM1):c.2384+10T>C
|
rs865805989
|
0.00001
|
|
NM_003803.4(MYOM1):c.2507-20T>C
|
rs1014551990
|
0.00001
|
|
NM_003803.4(MYOM1):c.2550G>A (p.Glu850=)
|
rs764318908
|
0.00001
|
|
NM_003803.4(MYOM1):c.290+10A>T
|
rs1463049778
|
0.00001
|
|
NM_003803.4(MYOM1):c.2919C>T (p.Arg973=)
|
rs762481691
|
0.00001
|
|
NM_003803.4(MYOM1):c.2946A>G (p.Lys982=)
|
rs142047476
|
0.00001
|
|
NM_003803.4(MYOM1):c.3003G>A (p.Leu1001=)
|
rs754487227
|
0.00001
|
|
NM_003803.4(MYOM1):c.3060C>T (p.Gly1020=)
|
rs771065186
|
0.00001
|
|
NM_003803.4(MYOM1):c.3144T>C (p.Ser1048=)
|
rs368391964
|
0.00001
|
|
NM_003803.4(MYOM1):c.3189C>G (p.Val1063=)
|
rs1060504727
|
0.00001
|
|
NM_003803.4(MYOM1):c.3303+11G>T
|
rs368597939
|
0.00001
|
|
NM_003803.4(MYOM1):c.3312C>A (p.Gly1104=)
|
rs936064897
|
0.00001
|
|
NM_003803.4(MYOM1):c.3378A>G (p.Pro1126=)
|
rs755921088
|
0.00001
|
|
NM_003803.4(MYOM1):c.3414T>C (p.Arg1138=)
|
rs761071148
|
0.00001
|
|
NM_003803.4(MYOM1):c.3418+9T>C
|
rs772656835
|
0.00001
|
|
NM_003803.4(MYOM1):c.3429G>A (p.Glu1143=)
|
rs770007093
|
0.00001
|
|
NM_003803.4(MYOM1):c.3543T>C (p.Ser1181=)
|
rs1252354401
|
0.00001
|
|
NM_003803.4(MYOM1):c.3630C>T (p.Cys1210=)
|
rs369080811
|
0.00001
|
|
NM_003803.4(MYOM1):c.3682+19C>T
|
rs780678352
|
0.00001
|
|
NM_003803.4(MYOM1):c.3756T>C (p.Val1252=)
|
rs1360604218
|
0.00001
|
|
NM_003803.4(MYOM1):c.378A>G (p.Gly126=)
|
rs764262234
|
0.00001
|
|
NM_003803.4(MYOM1):c.3840C>T (p.Asn1280=)
|
rs758630626
|
0.00001
|
|
NM_003803.4(MYOM1):c.3846G>A (p.Lys1282=)
|
rs376970493
|
0.00001
|
|
NM_003803.4(MYOM1):c.3948C>T (p.Tyr1316=)
|
rs768863215
|
0.00001
|
|
NM_003803.4(MYOM1):c.4137+9T>C
|
rs771843915
|
0.00001
|
|
NM_003803.4(MYOM1):c.4138-15T>C
|
rs779155317
|
0.00001
|
|
NM_003803.4(MYOM1):c.431+7G>A
|
rs1274403822
|
0.00001
|
|
NM_003803.4(MYOM1):c.4340-5C>T
|
rs777761886
|
0.00001
|
|
NM_003803.4(MYOM1):c.4401A>G (p.Lys1467=)
|
rs750104717
|
0.00001
|
|
NM_003803.4(MYOM1):c.4635T>C (p.Asp1545=)
|
rs1356522579
|
0.00001
|
|
NM_003803.4(MYOM1):c.4701C>T (p.Ala1567=)
|
rs1196822146
|
0.00001
|
|
NM_003803.4(MYOM1):c.4764+20G>C
|
rs1426281275
|
0.00001
|
|
NM_003803.4(MYOM1):c.4815G>A (p.Ser1605=)
|
rs763565843
|
0.00001
|
|
NM_003803.4(MYOM1):c.4827C>T (p.Asn1609=)
|
rs745895344
|
0.00001
|
|
NM_003803.4(MYOM1):c.4878G>C (p.Gly1626=)
|
rs755824393
|
0.00001
|
|
NM_003803.4(MYOM1):c.4896C>T (p.Thr1632=)
|
rs1463864301
|
0.00001
|
|
NM_003803.4(MYOM1):c.4986C>T (p.Ser1662=)
|
rs756917060
|
0.00001
|
|
NM_003803.4(MYOM1):c.5010G>A (p.Ala1670=)
|
rs759356591
|
0.00001
|
|
NM_003803.4(MYOM1):c.555G>A (p.Thr185=)
|
rs751561323
|
0.00001
|
|
NM_003803.4(MYOM1):c.627G>A (p.Thr209=)
|
rs1249449098
|
0.00001
|
|
NM_003803.4(MYOM1):c.645G>A (p.Thr215=)
|
rs764706590
|
0.00001
|
|
NM_003803.4(MYOM1):c.648A>G (p.Ala216=)
|
rs1060504728
|
0.00001
|
|
NM_003803.4(MYOM1):c.666T>A (p.Val222=)
|
rs2080861702
|
0.00001
|
|
NM_003803.4(MYOM1):c.678C>G (p.Ala226=)
|
rs776494166
|
0.00001
|
|
NM_003803.4(MYOM1):c.792T>C (p.Tyr264=)
|
rs566481853
|
0.00001
|
|
NM_003803.4(MYOM1):c.972A>G (p.Gly324=)
|
rs1198174146
|
0.00001
|
|
NM_003803.4(MYOM1):c.990T>C (p.Ser330=)
|
rs774273001
|
0.00001
|
|
NM_004100.5(EYA4):c.1095T>C (p.Asp365=)
|
rs779806687
|
0.00001
|
|
NM_004100.5(EYA4):c.1191+12A>G
|
rs746682236
|
0.00001
|
|
NM_004100.5(EYA4):c.1212C>A (p.Thr404=)
|
rs796327130
|
0.00001
|
|
NM_004100.5(EYA4):c.1260T>C (p.His420=)
|
rs750122346
|
0.00001
|
|
NM_004100.5(EYA4):c.1281+17G>A
|
rs751122119
|
0.00001
|
|
NM_004100.5(EYA4):c.1308T>C (p.Asp436=)
|
rs1029890565
|
0.00001
|
|
NM_004100.5(EYA4):c.1494C>T (p.Asn498=)
|
rs748934740
|
0.00001
|
|
NM_004100.5(EYA4):c.1617-20A>G
|
rs748106021
|
0.00001
|
|
NM_004100.5(EYA4):c.1635C>T (p.Val545=)
|
rs770537738
|
0.00001
|
|
NM_004100.5(EYA4):c.1671G>A (p.Ala557=)
|
rs768995654
|
0.00001
|
|
NM_004100.5(EYA4):c.1738+16T>C
|
rs1170264132
|
0.00001
|
|
NM_004100.5(EYA4):c.1739-4C>G
|
rs778226541
|
0.00001
|
|
NM_004100.5(EYA4):c.1782A>G (p.Arg594=)
|
rs1309570149
|
0.00001
|
|
NM_004100.5(EYA4):c.1839+18A>G
|
rs1305220868
|
0.00001
|
|
NM_004100.5(EYA4):c.1840-16T>G
|
rs1039495587
|
0.00001
|
|
NM_004100.5(EYA4):c.222T>A (p.Thr74=)
|
rs1458388711
|
0.00001
|
|
NM_004100.5(EYA4):c.306C>G (p.Pro102=)
|
rs778265878
|
0.00001
|
|
NM_004100.5(EYA4):c.33+19T>C
|
rs772392856
|
0.00001
|
|
NM_004100.5(EYA4):c.34-16T>C
|
rs373611331
|
0.00001
|
|
NM_004100.5(EYA4):c.438-15T>C
|
rs752763979
|
0.00001
|
|
NM_004100.5(EYA4):c.447A>C (p.Pro149=)
|
rs1794470384
|
0.00001
|
|
NM_004100.5(EYA4):c.45G>A (p.Thr15=)
|
rs145724851
|
0.00001
|
|
NM_004100.5(EYA4):c.552A>G (p.Thr184=)
|
rs759974412
|
0.00001
|
|
NM_004100.5(EYA4):c.672A>G (p.Pro224=)
|
rs777434048
|
0.00001
|
|
NM_004100.5(EYA4):c.675G>T (p.Gly225=)
|
rs746266041
|
0.00001
|
|
NM_004100.5(EYA4):c.69A>G (p.Gln23=)
|
rs1356813658
|
0.00001
|
|
NM_004100.5(EYA4):c.807T>C (p.Asp269=)
|
rs1795046144
|
0.00001
|
|
NM_004100.5(EYA4):c.840G>A (p.Gln280=)
|
rs1795049846
|
0.00001
|
|
NM_004100.5(EYA4):c.876G>A (p.Ala292=)
|
rs750099139
|
0.00001
|
|
NM_004100.5(EYA4):c.888G>A (p.Ser296=)
|
rs768010410
|
0.00001
|
|
NM_004100.5(EYA4):c.900C>T (p.Ala300=)
|
rs1053782342
|
0.00001
|
|
NM_004100.5(EYA4):c.918A>G (p.Ser306=)
|
rs1795058293
|
0.00001
|
|
NM_004281.4(BAG3):c.1011C>T (p.Ile337=)
|
rs1434506876
|
0.00001
|
|
NM_004281.4(BAG3):c.1050T>G (p.Pro350=)
|
rs765865667
|
0.00001
|
|
NM_004281.4(BAG3):c.1062G>A (p.Lys354=)
|
rs577392366
|
0.00001
|
|
NM_004281.4(BAG3):c.1086A>T (p.Val362=)
|
rs1847239230
|
0.00001
|
|
NM_004281.4(BAG3):c.1179A>G (p.Glu393=)
|
rs780963692
|
0.00001
|
|
NM_004281.4(BAG3):c.1182G>A (p.Glu394=)
|
rs1847242297
|
0.00001
|
|
NM_004281.4(BAG3):c.1266G>C (p.Val422=)
|
rs779661440
|
0.00001
|
|
NM_004281.4(BAG3):c.1275G>A (p.Val425=)
|
rs1462718739
|
0.00001
|
|
NM_004281.4(BAG3):c.1299G>A (p.Gln433=)
|
rs374858685
|
0.00001
|
|
NM_004281.4(BAG3):c.129C>T (p.Asn43=)
|
rs778921699
|
0.00001
|
|
NM_004281.4(BAG3):c.1354C>T (p.Leu452=)
|
rs751439966
|
0.00001
|
|
NM_004281.4(BAG3):c.1365A>G (p.Glu455=)
|
rs1847246196
|
0.00001
|
|
NM_004281.4(BAG3):c.1372T>C (p.Leu458=)
|
rs1176479605
|
0.00001
|
|
NM_004281.4(BAG3):c.1398T>C (p.Asp466=)
|
rs1589632842
|
0.00001
|
|
NM_004281.4(BAG3):c.13A>G (p.Thr5Ala)
|
rs777752849
|
0.00001
|
|
NM_004281.4(BAG3):c.1410C>T (p.Pro470=)
|
rs749034517
|
0.00001
|
|
NM_004281.4(BAG3):c.1418G>A (p.Arg473Gln)
|
rs150156178
|
0.00001
|
|
NM_004281.4(BAG3):c.1425T>C (p.Asp475=)
|
rs376404396
|
0.00001
|
|
NM_004281.4(BAG3):c.1593A>G (p.Ala531=)
|
rs1057521271
|
0.00001
|
|
NM_004281.4(BAG3):c.1641A>G (p.Thr547=)
|
rs1384879030
|
0.00001
|
|
NM_004281.4(BAG3):c.1698A>G (p.Thr566=)
|
rs199837016
|
0.00001
|
|
NM_004281.4(BAG3):c.1725G>A (p.Pro575=)
|
rs772087416
|
0.00001
|
|
NM_004281.4(BAG3):c.180+9G>C
|
rs1433391589
|
0.00001
|
|
NM_004281.4(BAG3):c.339C>T (p.Val113=)
|
rs367861849
|
0.00001
|
|
NM_004281.4(BAG3):c.372T>G (p.Thr124=)
|
rs766084373
|
0.00001
|
|
NM_004281.4(BAG3):c.465A>G (p.Ala155=)
|
rs775151738
|
0.00001
|
|
NM_004281.4(BAG3):c.480C>T (p.Ala160=)
|
rs749405417
|
0.00001
|
|
NM_004281.4(BAG3):c.508-17C>T
|
rs1410668640
|
0.00001
|
|
NM_004281.4(BAG3):c.508-4dup
|
rs1426366988
|
0.00001
|
|
NM_004281.4(BAG3):c.564G>T (p.Leu188=)
|
rs886046754
|
0.00001
|
|
NM_004281.4(BAG3):c.573C>T (p.Ser191=)
|
rs753386051
|
0.00001
|
|
NM_004281.4(BAG3):c.585C>T (p.Ser195=)
|
rs1286023578
|
0.00001
|
|
NM_004281.4(BAG3):c.591C>T (p.Gly197=)
|
rs1290410347
|
0.00001
|
|
NM_004281.4(BAG3):c.607C>A (p.Arg203=)
|
rs1047671466
|
0.00001
|
|
NM_004281.4(BAG3):c.72C>A (p.Pro24=)
|
rs964684316
|
0.00001
|
|
NM_004281.4(BAG3):c.786G>A (p.Ala262=)
|
rs775938242
|
0.00001
|
|
NM_004281.4(BAG3):c.828G>A (p.Arg276=)
|
rs752538980
|
0.00001
|
|
NM_004281.4(BAG3):c.858A>G (p.Pro286=)
|
rs756650132
|
0.00001
|
|
NM_004415.4(DSP):c.1016A>G (p.Asn339Ser)
|
rs746245682
|
0.00001
|
|
NM_004415.4(DSP):c.1044+11T>C
|
rs772511991
|
0.00001
|
|
NM_004415.4(DSP):c.1045-18G>A
|
rs1332704469
|
0.00001
|
|
NM_004415.4(DSP):c.1051A>G (p.Met351Val)
|
rs1372435657
|
0.00001
|
|
NM_004415.4(DSP):c.1065G>A (p.Gln355=)
|
rs750289780
|
0.00001
|
|
NM_004415.4(DSP):c.106G>A (p.Gly36Ser)
|
rs1395509692
|
0.00001
|
|
NM_004415.4(DSP):c.1077T>C (p.Ser359=)
|
rs1179244955
|
0.00001
|
|
NM_004415.4(DSP):c.1102A>T (p.Ile368Phe)
|
rs794728112
|
0.00001
|
|
NM_004415.4(DSP):c.111C>T (p.Thr37=)
|
rs727502995
|
0.00001
|
|
NM_004415.4(DSP):c.1141-14C>T
|
rs1258179786
|
0.00001
|
|
NM_004415.4(DSP):c.117G>T (p.Arg39Ser)
|
rs748578019
|
0.00001
|
|
NM_004415.4(DSP):c.1197C>G (p.Ile399Met)
|
rs375828592
|
0.00001
|
|
NM_004415.4(DSP):c.1262T>C (p.Leu421Pro)
|
rs763523373
|
0.00001
|
|
NM_004415.4(DSP):c.1266+5C>T
|
rs1052624321
|
0.00001
|
|
NM_004415.4(DSP):c.1274G>A (p.Arg425Gln)
|
rs397516916
|
0.00001
|
|
NM_004415.4(DSP):c.1279A>G (p.Lys427Glu)
|
rs1430756602
|
0.00001
|
|
NM_004415.4(DSP):c.1281A>G (p.Lys427=)
|
rs1758928792
|
0.00001
|
|
NM_004415.4(DSP):c.1323G>C (p.Lys441Asn)
|
rs1037212969
|
0.00001
|
|
NM_004415.4(DSP):c.136G>A (p.Gly46Ser)
|
rs371517189
|
0.00001
|
|
NM_004415.4(DSP):c.1383T>C (p.Ile461=)
|
rs1758933736
|
0.00001
|
|
NM_004415.4(DSP):c.1452G>A (p.Leu484=)
|
rs1413578599
|
0.00001
|
|
NM_004415.4(DSP):c.1468C>T (p.Arg490Cys)
|
rs781084693
|
0.00001
|
|
NM_004415.4(DSP):c.146C>G (p.Thr49Ser)
|
rs151153655
|
0.00001
|
|
NM_004415.4(DSP):c.1482C>T (p.Tyr494=)
|
rs772925425
|
0.00001
|
|
NM_004415.4(DSP):c.1502T>C (p.Val501Ala)
|
rs544017143
|
0.00001
|
|
NM_004415.4(DSP):c.1528C>T (p.Leu510=)
|
rs1019692996
|
0.00001
|
|
NM_004415.4(DSP):c.153G>A (p.Gln51=)
|
rs1450725914
|
0.00001
|
|
NM_004415.4(DSP):c.1545G>A (p.Pro515=)
|
rs747953037
|
0.00001
|
|
NM_004415.4(DSP):c.1564C>G (p.Leu522Val)
|
rs1230995902
|
0.00001
|
|
NM_004415.4(DSP):c.1568C>T (p.Ser523Phe)
|
rs1276338018
|
0.00001
|
|
NM_004415.4(DSP):c.1575-16C>G
|
rs756806835
|
0.00001
|
|
NM_004415.4(DSP):c.1575-7C>T
|
rs1203683996
|
0.00001
|
|
NM_004415.4(DSP):c.1582C>G (p.Gln528Glu)
|
rs1267435790
|
0.00001
|
|
NM_004415.4(DSP):c.1590C>T (p.Tyr530=)
|
rs769196176
|
0.00001
|
|
NM_004415.4(DSP):c.163G>T (p.Gly55Cys)
|
rs1214660308
|
0.00001
|
|
NM_004415.4(DSP):c.165C>T (p.Gly55=)
|
rs1041730733
|
0.00001
|
|
NM_004415.4(DSP):c.170+16G>A
|
rs1475829163
|
0.00001
|
|
NM_004415.4(DSP):c.1702-10C>A
|
rs774406075
|
0.00001
|
|
NM_004415.4(DSP):c.171-4T>C
|
rs1554105598
|
0.00001
|
|
NM_004415.4(DSP):c.1714C>T (p.Arg572Trp)
|
rs796851273
|
0.00001
|
|
NM_004415.4(DSP):c.1715G>A (p.Arg572Gln)
|
rs370531666
|
0.00001
|
|
NM_004415.4(DSP):c.1725T>C (p.Asp575=)
|
rs756392585
|
0.00001
|
|
NM_004415.4(DSP):c.1728C>T (p.Tyr576=)
|
rs760696358
|
0.00001
|
|
NM_004415.4(DSP):c.1731G>A (p.Met577Ile)
|
rs794728101
|
0.00001
|
|
NM_004415.4(DSP):c.1737G>A (p.Thr579=)
|
rs150734502
|
0.00001
|
|
NM_004415.4(DSP):c.1812C>T (p.Asp604=)
|
rs1428325875
|
0.00001
|
|
NM_004415.4(DSP):c.1821A>G (p.Lys607=)
|
rs768675424
|
0.00001
|
|
NM_004415.4(DSP):c.1824A>G (p.Ile608Met)
|
rs776461292
|
0.00001
|
|
NM_004415.4(DSP):c.182C>T (p.Thr61Met)
|
rs200250096
|
0.00001
|
|
NM_004415.4(DSP):c.1860G>A (p.Gln620=)
|
rs762658467
|
0.00001
|
|
NM_004415.4(DSP):c.1864C>T (p.Leu622=)
|
rs200790278
|
0.00001
|
|
NM_004415.4(DSP):c.195C>T (p.His65=)
|
rs1324720466
|
0.00001
|
|
NM_004415.4(DSP):c.1960G>A (p.Val654Ile)
|
rs375629257
|
0.00001
|
|
NM_004415.4(DSP):c.1973A>G (p.Asn658Ser)
|
rs749183448
|
0.00001
|
|
NM_004415.4(DSP):c.197A>T (p.Gln66Leu)
|
rs794728152
|
0.00001
|
|
NM_004415.4(DSP):c.2023A>G (p.Ile675Val)
|
rs142619902
|
0.00001
|
|
NM_004415.4(DSP):c.2030G>A (p.Arg677Lys)
|
rs749238502
|
0.00001
|
|
NM_004415.4(DSP):c.2071C>T (p.Leu691Phe)
|
rs1363445022
|
0.00001
|
|
NM_004415.4(DSP):c.2073C>G (p.Leu691=)
|
rs768290750
|
0.00001
|
|
NM_004415.4(DSP):c.2077C>G (p.Leu693Val)
|
rs1339486272
|
0.00001
|
|
NM_004415.4(DSP):c.210C>T (p.Thr70=)
|
rs1303431114
|
0.00001
|
|
NM_004415.4(DSP):c.2130+8T>C
|
rs1450035171
|
0.00001
|
|
NM_004415.4(DSP):c.2131-10T>C
|
rs369821143
|
0.00001
|
|
NM_004415.4(DSP):c.2131-19T>C
|
rs1302281595
|
0.00001
|
|
NM_004415.4(DSP):c.2131-5G>C
|
rs767939332
|
0.00001
|
|
NM_004415.4(DSP):c.2194A>G (p.Asn732Asp)
|
rs746785505
|
0.00001
|
|
NM_004415.4(DSP):c.223C>T (p.Leu75=)
|
rs746019083
|
0.00001
|
|
NM_004415.4(DSP):c.2260G>A (p.Glu754Lys)
|
rs730880080
|
0.00001
|
|
NM_004415.4(DSP):c.2265T>C (p.Asn755=)
|
rs770798708
|
0.00001
|
|
NM_004415.4(DSP):c.2270A>G (p.Asn757Ser)
|
rs372354883
|
0.00001
|
|
NM_004415.4(DSP):c.2280A>C (p.Thr760=)
|
rs1375561193
|
0.00001
|
|
NM_004415.4(DSP):c.2287T>C (p.Tyr763His)
|
rs1064794463
|
0.00001
|
|
NM_004415.4(DSP):c.2298-17T>G
|
rs375721577
|
0.00001
|
|
NM_004415.4(DSP):c.2316A>T (p.Ala772=)
|
rs754896726
|
0.00001
|
|
NM_004415.4(DSP):c.2377G>A (p.Glu793Lys)
|
rs755067397
|
0.00001
|
|
NM_004415.4(DSP):c.2423G>A (p.Arg808His)
|
rs372906646
|
0.00001
|
|
NM_004415.4(DSP):c.2437-9dup
|
rs1239613725
|
0.00001
|
|
NM_004415.4(DSP):c.2469G>A (p.Ser823=)
|
rs368945617
|
0.00001
|
|
NM_004415.4(DSP):c.2472G>A (p.Leu824=)
|
rs763798166
|
0.00001
|
|
NM_004415.4(DSP):c.2482A>G (p.Met828Val)
|
rs1338201926
|
0.00001
|
|
NM_004415.4(DSP):c.249G>A (p.Met83Ile)
|
rs1426930663
|
0.00001
|
|
NM_004415.4(DSP):c.2502A>G (p.Lys834=)
|
rs764842338
|
0.00001
|
|
NM_004415.4(DSP):c.2515C>T (p.His839Tyr)
|
rs1561693806
|
0.00001
|
|
NM_004415.4(DSP):c.2597G>A (p.Arg866His)
|
rs764965132
|
0.00001
|
|
NM_004415.4(DSP):c.2609T>C (p.Ile870Thr)
|
rs534413559
|
0.00001
|
|
NM_004415.4(DSP):c.2630+10C>A
|
rs757717367
|
0.00001
|
|
NM_004415.4(DSP):c.2644G>A (p.Glu882Lys)
|
rs730880081
|
0.00001
|
|
NM_004415.4(DSP):c.2658G>A (p.Lys886=)
|
rs201404613
|
0.00001
|
|
NM_004415.4(DSP):c.265G>A (p.Val89Met)
|
rs766022243
|
0.00001
|
|
NM_004415.4(DSP):c.2689G>C (p.Ala897Pro)
|
rs1008407158
|
0.00001
|
|
NM_004415.4(DSP):c.2728G>A (p.Asp910Asn)
|
rs775080138
|
0.00001
|
|
NM_004415.4(DSP):c.273+11C>G
|
rs1234194955
|
0.00001
|
|
NM_004415.4(DSP):c.273+9T>C
|
rs1439195112
|
0.00001
|
|
NM_004415.4(DSP):c.2793+19T>C
|
rs778502149
|
0.00001
|
|
NM_004415.4(DSP):c.2822G>A (p.Arg941Gln)
|
rs759869347
|
0.00001
|
|
NM_004415.4(DSP):c.2841A>G (p.Val947=)
|
rs1489060030
|
0.00001
|
|
NM_004415.4(DSP):c.2850T>G (p.Ile950Met)
|
rs727502999
|
0.00001
|
|
NM_004415.4(DSP):c.2858T>C (p.Leu953Pro)
|
rs745641212
|
0.00001
|
|
NM_004415.4(DSP):c.2872A>G (p.Ile958Val)
|
rs377116090
|
0.00001
|
|
NM_004415.4(DSP):c.2877+19G>A
|
rs1167474508
|
0.00001
|
|
NM_004415.4(DSP):c.2877+9G>T
|
rs1759263896
|
0.00001
|
|
NM_004415.4(DSP):c.2878-4G>A
|
rs758303966
|
0.00001
|
|
NM_004415.4(DSP):c.2886G>C (p.Glu962Asp)
|
rs1483445708
|
0.00001
|
|
NM_004415.4(DSP):c.2925G>A (p.Leu975=)
|
rs1163951082
|
0.00001
|
|
NM_004415.4(DSP):c.2933T>A (p.Ile978Lys)
|
rs1060500615
|
0.00001
|
|
NM_004415.4(DSP):c.2959T>A (p.Ser987Thr)
|
rs397516929
|
0.00001
|
|
NM_004415.4(DSP):c.2991A>C (p.Ala997=)
|
rs780686578
|
0.00001
|
|
NM_004415.4(DSP):c.2993A>T (p.Asp998Val)
|
rs752344739
|
0.00001
|
|
NM_004415.4(DSP):c.3004C>T (p.Arg1002Trp)
|
rs772551736
|
0.00001
|
|
NM_004415.4(DSP):c.3011T>C (p.Ile1004Thr)
|
rs910919703
|
0.00001
|
|
NM_004415.4(DSP):c.3084+9T>C
|
rs751450713
|
0.00001
|
|
NM_004415.4(DSP):c.308G>A (p.Arg103Gln)
|
rs775015862
|
0.00001
|
|
NM_004415.4(DSP):c.3117G>A (p.Glu1039=)
|
rs763766403
|
0.00001
|
|
NM_004415.4(DSP):c.3141C>T (p.Ala1047=)
|
rs1421186832
|
0.00001
|
|
NM_004415.4(DSP):c.314G>A (p.Arg105Gln)
|
rs762238621
|
0.00001
|
|
NM_004415.4(DSP):c.321G>A (p.Leu107=)
|
rs765707433
|
0.00001
|
|
NM_004415.4(DSP):c.3221C>T (p.Ala1074Val)
|
rs745849763
|
0.00001
|
|
NM_004415.4(DSP):c.3222G>A (p.Ala1074=)
|
rs772040899
|
0.00001
|
|
NM_004415.4(DSP):c.3249G>A (p.Lys1083=)
|
rs764787427
|
0.00001
|
|
NM_004415.4(DSP):c.326A>C (p.Glu109Ala)
|
rs918984340
|
0.00001
|
|
NM_004415.4(DSP):c.327G>A (p.Glu109=)
|
rs750816128
|
0.00001
|
|
NM_004415.4(DSP):c.3323A>G (p.Asn1108Ser)
|
rs771948271
|
0.00001
|
|
NM_004415.4(DSP):c.3333C>A (p.Ile1111=)
|
rs1759349079
|
0.00001
|
|
NM_004415.4(DSP):c.3343A>G (p.Thr1115Ala)
|
rs761524542
|
0.00001
|
|
NM_004415.4(DSP):c.3396T>C (p.Phe1132=)
|
rs41302881
|
0.00001
|
|
NM_004415.4(DSP):c.340G>A (p.Ala114Thr)
|
rs751745906
|
0.00001
|
|
NM_004415.4(DSP):c.3453G>A (p.Glu1151=)
|
rs1554108084
|
0.00001
|
|
NM_004415.4(DSP):c.3471A>G (p.Lys1157=)
|
rs371743739
|
0.00001
|
|
NM_004415.4(DSP):c.3520T>C (p.Leu1174=)
|
rs1355577119
|
0.00001
|
|
NM_004415.4(DSP):c.3530T>A (p.Leu1177Gln)
|
rs770489625
|
0.00001
|
|
NM_004415.4(DSP):c.3540A>G (p.Glu1180=)
|
rs555514197
|
0.00001
|
|
NM_004415.4(DSP):c.3550C>T (p.Arg1184Trp)
|
rs761331634
|
0.00001
|
|
NM_004415.4(DSP):c.3601G>A (p.Glu1201Lys)
|
rs751566392
|
0.00001
|
|
NM_004415.4(DSP):c.3605A>T (p.Glu1202Val)
|
rs374266534
|
0.00001
|
|
NM_004415.4(DSP):c.3701A>G (p.Asn1234Ser)
|
rs185367490
|
0.00001
|
|
NM_004415.4(DSP):c.3715C>T (p.Leu1239Phe)
|
rs752645827
|
0.00001
|
|
NM_004415.4(DSP):c.3740G>A (p.Arg1247Gln)
|
rs867067755
|
0.00001
|
|
NM_004415.4(DSP):c.3819C>T (p.Asn1273=)
|
rs1390665527
|
0.00001
|
|
NM_004415.4(DSP):c.3843C>T (p.Gly1281=)
|
rs757848395
|
0.00001
|
|
NM_004415.4(DSP):c.385C>T (p.Arg129Trp)
|
rs777763456
|
0.00001
|
|
NM_004415.4(DSP):c.3864G>A (p.Lys1288=)
|
rs768166626
|
0.00001
|
|
NM_004415.4(DSP):c.386G>A (p.Arg129Gln)
|
rs749155619
|
0.00001
|
|
NM_004415.4(DSP):c.3878T>C (p.Ile1293Thr)
|
rs759823665
|
0.00001
|
|
NM_004415.4(DSP):c.3903G>A (p.Gln1301=)
|
rs1284991362
|
0.00001
|
|
NM_004415.4(DSP):c.3905G>A (p.Arg1302His)
|
rs760691999
|
0.00001
|
|
NM_004415.4(DSP):c.3919G>A (p.Ala1307Thr)
|
rs367579811
|
0.00001
|
|
NM_004415.4(DSP):c.3973A>C (p.Lys1325Gln)
|
rs41302883
|
0.00001
|
|
NM_004415.4(DSP):c.4021C>T (p.Arg1341Cys)
|
rs547568275
|
0.00001
|
|
NM_004415.4(DSP):c.4043T>G (p.Leu1348Arg)
|
rs767003564
|
0.00001
|
|
NM_004415.4(DSP):c.4046G>A (p.Ser1349Asn)
|
rs144465638
|
0.00001
|
|
NM_004415.4(DSP):c.4061A>G (p.Asn1354Ser)
|
rs746333083
|
0.00001
|
|
NM_004415.4(DSP):c.408T>G (p.Asp136Glu)
|
rs774188472
|
0.00001
|
|
NM_004415.4(DSP):c.4103C>T (p.Thr1368Ile)
|
rs530481219
|
0.00001
|
|
NM_004415.4(DSP):c.4125C>A (p.Thr1375=)
|
rs766338180
|
0.00001
|
|
NM_004415.4(DSP):c.4173C>T (p.Tyr1391=)
|
rs75537269
|
0.00001
|
|
NM_004415.4(DSP):c.4174C>T (p.Arg1392Trp)
|
rs987487921
|
0.00001
|
|
NM_004415.4(DSP):c.423-17G>A
|
rs936607131
|
0.00001
|
|
NM_004415.4(DSP):c.4242C>T (p.Asn1414=)
|
rs375941706
|
0.00001
|
|
NM_004415.4(DSP):c.4248A>G (p.Leu1416=)
|
rs760259046
|
0.00001
|
|
NM_004415.4(DSP):c.4274G>A (p.Arg1425Lys)
|
rs577560157
|
0.00001
|
|
NM_004415.4(DSP):c.4303G>C (p.Ala1435Pro)
|
rs751972271
|
0.00001
|
|
NM_004415.4(DSP):c.4311C>G (p.Gly1437=)
|
rs781353867
|
0.00001
|
|
NM_004415.4(DSP):c.4347T>G (p.Val1449=)
|
rs778043017
|
0.00001
|
|
NM_004415.4(DSP):c.4359A>G (p.Gln1453=)
|
rs1174059606
|
0.00001
|
|
NM_004415.4(DSP):c.4376C>T (p.Thr1459Ile)
|
rs1160666212
|
0.00001
|
|
NM_004415.4(DSP):c.4395T>C (p.Tyr1465=)
|
rs1236464864
|
0.00001
|
|
NM_004415.4(DSP):c.4405C>T (p.Leu1469Phe)
|
rs752121953
|
0.00001
|
|
NM_004415.4(DSP):c.4419C>T (p.Ala1473=)
|
rs727504542
|
0.00001
|
|
NM_004415.4(DSP):c.4433A>G (p.Asp1478Gly)
|
rs767339003
|
0.00001
|
|
NM_004415.4(DSP):c.4446G>A (p.Glu1482=)
|
rs145213715
|
0.00001
|
|
NM_004415.4(DSP):c.4448T>C (p.Ile1483Thr)
|
rs745872344
|
0.00001
|
|
NM_004415.4(DSP):c.4470C>T (p.Ile1490=)
|
rs1759402221
|
0.00001
|
|
NM_004415.4(DSP):c.4526G>A (p.Arg1509Lys)
|
rs577061462
|
0.00001
|
|
NM_004415.4(DSP):c.4563G>A (p.Ala1521=)
|
rs774258993
|
0.00001
|
|
NM_004415.4(DSP):c.4566G>A (p.Thr1522=)
|
rs1159243386
|
0.00001
|
|
NM_004415.4(DSP):c.4620C>T (p.Ile1540=)
|
rs1385558717
|
0.00001
|
|
NM_004415.4(DSP):c.4621G>A (p.Asp1541Asn)
|
rs750607476
|
0.00001
|
|
NM_004415.4(DSP):c.4666A>G (p.Ile1556Val)
|
rs530647574
|
0.00001
|
|
NM_004415.4(DSP):c.4668C>T (p.Ile1556=)
|
rs1299604004
|
0.00001
|
|
NM_004415.4(DSP):c.4671G>A (p.Thr1557=)
|
rs367767551
|
0.00001
|
|
NM_004415.4(DSP):c.4698G>A (p.Leu1566=)
|
rs751608838
|
0.00001
|
|
NM_004415.4(DSP):c.4716G>A (p.Lys1572=)
|
rs1759413690
|
0.00001
|
|
NM_004415.4(DSP):c.4735C>T (p.Arg1579Trp)
|
rs755868373
|
0.00001
|
|
NM_004415.4(DSP):c.4736G>A (p.Arg1579Gln)
|
rs397516942
|
0.00001
|
|
NM_004415.4(DSP):c.4748C>G (p.Thr1583Ser)
|
rs778603023
|
0.00001
|
|
NM_004415.4(DSP):c.4779G>A (p.Lys1593=)
|
rs759646052
|
0.00001
|
|
NM_004415.4(DSP):c.479G>A (p.Arg160Gln)
|
rs752941845
|
0.00001
|
|
NM_004415.4(DSP):c.4811C>T (p.Ser1604Leu)
|
rs757018930
|
0.00001
|
|
NM_004415.4(DSP):c.4812G>A (p.Ser1604=)
|
rs778729982
|
0.00001
|
|
NM_004415.4(DSP):c.4859A>G (p.Glu1620Gly)
|
rs1423503309
|
0.00001
|
|
NM_004415.4(DSP):c.4950C>G (p.Thr1650=)
|
rs948524246
|
0.00001
|
|
NM_004415.4(DSP):c.4961T>C (p.Leu1654Pro)
|
rs749730642
|
0.00001
|
|
NM_004415.4(DSP):c.4983C>T (p.Val1661=)
|
rs755233649
|
0.00001
|
|
NM_004415.4(DSP):c.498C>T (p.Ser166=)
|
rs372869942
|
0.00001
|
|
NM_004415.4(DSP):c.5062G>A (p.Ala1688Thr)
|
rs757753880
|
0.00001
|
|
NM_004415.4(DSP):c.508G>A (p.Gly170Arg)
|
rs779608764
|
0.00001
|
|
NM_004415.4(DSP):c.5091T>C (p.Asn1697=)
|
rs780353871
|
0.00001
|
|
NM_004415.4(DSP):c.5118G>A (p.Leu1706=)
|
rs747132423
|
0.00001
|
|
NM_004415.4(DSP):c.5123C>T (p.Ser1708Phe)
|
rs372452104
|
0.00001
|
|
NM_004415.4(DSP):c.5130A>T (p.Thr1710=)
|
rs1339008022
|
0.00001
|
|
NM_004415.4(DSP):c.5202G>C (p.Leu1734=)
|
rs755220841
|
0.00001
|
|
NM_004415.4(DSP):c.5217C>T (p.Ser1739=)
|
rs748263306
|
0.00001
|
|
NM_004415.4(DSP):c.5244C>T (p.Thr1748=)
|
rs759222918
|
0.00001
|
|
NM_004415.4(DSP):c.5261G>A (p.Ser1754Asn)
|
rs763526083
|
0.00001
|
|
NM_004415.4(DSP):c.5283C>T (p.Asn1761=)
|
rs763355815
|
0.00001
|
|
NM_004415.4(DSP):c.5380-12C>T
|
rs1393661264
|
0.00001
|
|
NM_004415.4(DSP):c.5380-15C>A
|
rs753028657
|
0.00001
|
|
NM_004415.4(DSP):c.5412G>T (p.Gln1804His)
|
rs779809935
|
0.00001
|
|
NM_004415.4(DSP):c.5485C>G (p.Leu1829Val)
|
rs769284245
|
0.00001
|
|
NM_004415.4(DSP):c.5550A>G (p.Lys1850=)
|
rs1759482564
|
0.00001
|
|
NM_004415.4(DSP):c.5593A>T (p.Asn1865Tyr)
|
rs562015789
|
0.00001
|
|
NM_004415.4(DSP):c.5594A>G (p.Asn1865Ser)
|
rs780714982
|
0.00001
|
|
NM_004415.4(DSP):c.5611T>G (p.Tyr1871Asp)
|
rs374844169
|
0.00001
|
|
NM_004415.4(DSP):c.5618G>A (p.Arg1873His)
|
rs776088292
|
0.00001
|
|
NM_004415.4(DSP):c.5631T>C (p.Ala1877=)
|
rs1231651139
|
0.00001
|
|
NM_004415.4(DSP):c.5649G>A (p.Ser1883=)
|
rs760974941
|
0.00001
|
|
NM_004415.4(DSP):c.5656G>C (p.Glu1886Gln)
|
rs776728790
|
0.00001
|
|
NM_004415.4(DSP):c.5698G>A (p.Glu1900Lys)
|
rs751447598
|
0.00001
|
|
NM_004415.4(DSP):c.5722A>G (p.Arg1908Gly)
|
rs781030107
|
0.00001
|
|
NM_004415.4(DSP):c.5749C>T (p.Leu1917=)
|
rs936938713
|
0.00001
|
|
NM_004415.4(DSP):c.5794C>T (p.Arg1932Cys)
|
rs748825632
|
0.00001
|
|
NM_004415.4(DSP):c.5804A>G (p.Tyr1935Cys)
|
rs777048976
|
0.00001
|
|
NM_004415.4(DSP):c.5805T>C (p.Tyr1935=)
|
rs748358814
|
0.00001
|
|
NM_004415.4(DSP):c.5810G>A (p.Arg1937Lys)
|
rs375502200
|
0.00001
|
|
NM_004415.4(DSP):c.5820T>C (p.Asp1940=)
|
rs763026647
|
0.00001
|
|
NM_004415.4(DSP):c.5834G>A (p.Arg1945His)
|
rs759516161
|
0.00001
|
|
NM_004415.4(DSP):c.5838A>C (p.Pro1946=)
|
rs369822839
|
0.00001
|
|
NM_004415.4(DSP):c.5859C>G (p.Thr1953=)
|
rs752518537
|
0.00001
|
|
NM_004415.4(DSP):c.5880C>T (p.Thr1960=)
|
rs375883982
|
0.00001
|
|
NM_004415.4(DSP):c.5881G>A (p.Val1961Ile)
|
rs368869076
|
0.00001
|
|
NM_004415.4(DSP):c.588G>A (p.Arg196=)
|
rs754666224
|
0.00001
|
|
NM_004415.4(DSP):c.5958C>T (p.Ile1986=)
|
rs577625038
|
0.00001
|
|
NM_004415.4(DSP):c.5959G>A (p.Asp1987Asn)
|
rs759443302
|
0.00001
|
|
NM_004415.4(DSP):c.5963A>G (p.Lys1988Arg)
|
rs767516148
|
0.00001
|
|
NM_004415.4(DSP):c.5964A>G (p.Lys1988=)
|
rs775247252
|
0.00001
|
|
NM_004415.4(DSP):c.597+8G>A
|
rs992434570
|
0.00001
|
|
NM_004415.4(DSP):c.5976C>A (p.Asp1992Glu)
|
rs763921000
|
0.00001
|
|
NM_004415.4(DSP):c.598-5C>T
|
rs765653540
|
0.00001
|
|
NM_004415.4(DSP):c.6038G>A (p.Arg2013Gln)
|
rs557263443
|
0.00001
|
|
NM_004415.4(DSP):c.6086A>G (p.Tyr2029Cys)
|
rs753271305
|
0.00001
|
|
NM_004415.4(DSP):c.6112A>C (p.Lys2038Gln)
|
rs185846631
|
0.00001
|
|
NM_004415.4(DSP):c.6150G>A (p.Glu2050=)
|
rs1166392485
|
0.00001
|
|
NM_004415.4(DSP):c.61G>A (p.Glu21Lys)
|
rs747956457
|
0.00001
|
|
NM_004415.4(DSP):c.6224G>A (p.Arg2075Gln)
|
rs759000314
|
0.00001
|
|
NM_004415.4(DSP):c.6233T>C (p.Ile2078Thr)
|
rs377035113
|
0.00001
|
|
NM_004415.4(DSP):c.6241G>A (p.Asp2081Asn)
|
rs779129603
|
0.00001
|
|
NM_004415.4(DSP):c.6332T>C (p.Ile2111Thr)
|
rs370865499
|
0.00001
|
|
NM_004415.4(DSP):c.6346A>G (p.Ile2116Val)
|
rs777184414
|
0.00001
|
|
NM_004415.4(DSP):c.634G>A (p.Ala212Thr)
|
rs1028793473
|
0.00001
|
|
NM_004415.4(DSP):c.6367C>T (p.Arg2123Cys)
|
rs372242085
|
0.00001
|
|
NM_004415.4(DSP):c.6385A>G (p.Ile2129Val)
|
rs755981187
|
0.00001
|
|
NM_004415.4(DSP):c.6441C>A (p.Val2147=)
|
rs762513279
|
0.00001
|
|
NM_004415.4(DSP):c.6455G>T (p.Gly2152Val)
|
rs1040120840
|
0.00001
|
|
NM_004415.4(DSP):c.6497G>A (p.Arg2166Gln)
|
rs771692503
|
0.00001
|
|
NM_004415.4(DSP):c.6549C>T (p.Tyr2183=)
|
rs771461040
|
0.00001
|
|
NM_004415.4(DSP):c.6550G>A (p.Val2184Met)
|
rs774832931
|
0.00001
|
|
NM_004415.4(DSP):c.6576C>A (p.Ile2192=)
|
rs1032400756
|
0.00001
|
|
NM_004415.4(DSP):c.6585T>C (p.His2195=)
|
rs1759541694
|
0.00001
|
|
NM_004415.4(DSP):c.664C>T (p.Arg222Trp)
|
rs1233981969
|
0.00001
|
|
NM_004415.4(DSP):c.6689C>T (p.Pro2230Leu)
|
rs759982048
|
0.00001
|
|
NM_004415.4(DSP):c.6699C>T (p.Val2233=)
|
rs767835744
|
0.00001
|
|
NM_004415.4(DSP):c.6776G>A (p.Cys2259Tyr)
|
rs754635738
|
0.00001
|
|
NM_004415.4(DSP):c.6812A>C (p.Lys2271Thr)
|
rs730880089
|
0.00001
|
|
NM_004415.4(DSP):c.6852A>G (p.Arg2284=)
|
rs141148057
|
0.00001
|
|
NM_004415.4(DSP):c.6879A>G (p.Glu2293=)
|
rs1327990933
|
0.00001
|
|
NM_004415.4(DSP):c.6902T>C (p.Ile2301Thr)
|
rs772381363
|
0.00001
|
|
NM_004415.4(DSP):c.6921C>T (p.Asn2307=)
|
rs775897238
|
0.00001
|
|
NM_004415.4(DSP):c.692A>G (p.Tyr231Cys)
|
rs770210088
|
0.00001
|
|
NM_004415.4(DSP):c.6930A>G (p.Leu2310=)
|
rs1759552189
|
0.00001
|
|
NM_004415.4(DSP):c.6939G>A (p.Glu2313=)
|
rs1471693700
|
0.00001
|
|
NM_004415.4(DSP):c.6947A>G (p.Tyr2316Cys)
|
rs765245807
|
0.00001
|
|
NM_004415.4(DSP):c.6968T>C (p.Ile2323Thr)
|
rs777901747
|
0.00001
|
|
NM_004415.4(DSP):c.7046C>G (p.Ser2349Cys)
|
rs769930190
|
0.00001
|
|
NM_004415.4(DSP):c.7068G>A (p.Lys2356=)
|
rs762892811
|
0.00001
|
|
NM_004415.4(DSP):c.7083G>A (p.Lys2361=)
|
rs1273820779
|
0.00001
|
|
NM_004415.4(DSP):c.7102T>C (p.Leu2368=)
|
rs1581823488
|
0.00001
|
|
NM_004415.4(DSP):c.720C>T (p.Ala240=)
|
rs1324798719
|
0.00001
|
|
NM_004415.4(DSP):c.7215C>T (p.Leu2405=)
|
rs191226040
|
0.00001
|
|
NM_004415.4(DSP):c.7249G>T (p.Asp2417Tyr)
|
rs760501352
|
0.00001
|
|
NM_004415.4(DSP):c.726+8T>C
|
rs1554106248
|
0.00001
|
|
NM_004415.4(DSP):c.7287A>G (p.Leu2429=)
|
rs764641630
|
0.00001
|
|
NM_004415.4(DSP):c.7396G>A (p.Val2466Met)
|
rs745862520
|
0.00001
|
|
NM_004415.4(DSP):c.7413A>G (p.Pro2471=)
|
rs772161814
|
0.00001
|
|
NM_004415.4(DSP):c.7465G>A (p.Asp2489Asn)
|
rs760552749
|
0.00001
|
|
NM_004415.4(DSP):c.7470T>C (p.Tyr2490=)
|
rs372896350
|
0.00001
|
|
NM_004415.4(DSP):c.7551G>A (p.Val2517=)
|
rs754127386
|
0.00001
|
|
NM_004415.4(DSP):c.7562A>G (p.Asp2521Gly)
|
rs758490440
|
0.00001
|
|
NM_004415.4(DSP):c.7583A>G (p.Tyr2528Cys)
|
rs746932951
|
0.00001
|
|
NM_004415.4(DSP):c.7596T>C (p.Asp2532=)
|
rs769362448
|
0.00001
|
|
NM_004415.4(DSP):c.7618G>A (p.Asp2540Asn)
|
rs761136328
|
0.00001
|
|
NM_004415.4(DSP):c.7644A>T (p.Arg2548=)
|
rs886039159
|
0.00001
|
|
NM_004415.4(DSP):c.7701C>T (p.Val2567=)
|
rs772907439
|
0.00001
|
|
NM_004415.4(DSP):c.7702G>A (p.Gly2568Ser)
|
rs139486943
|
0.00001
|
|
NM_004415.4(DSP):c.772C>T (p.Leu258=)
|
rs147522043
|
0.00001
|
|
NM_004415.4(DSP):c.7731C>T (p.Val2577=)
|
rs1320894353
|
0.00001
|
|
NM_004415.4(DSP):c.7735G>A (p.Asp2579Asn)
|
rs750744914
|
0.00001
|
|
NM_004415.4(DSP):c.7745T>G (p.Phe2582Cys)
|
rs751712837
|
0.00001
|
|
NM_004415.4(DSP):c.777+12T>G
|
rs764388232
|
0.00001
|
|
NM_004415.4(DSP):c.778-9C>T
|
rs773949949
|
0.00001
|
|
NM_004415.4(DSP):c.7810A>G (p.Ile2604Val)
|
rs1301635888
|
0.00001
|
|
NM_004415.4(DSP):c.7847C>T (p.Ser2616Leu)
|
rs571577908
|
0.00001
|
|
NM_004415.4(DSP):c.7864A>G (p.Ile2622Val)
|
rs752616130
|
0.00001
|
|
NM_004415.4(DSP):c.7876G>C (p.Glu2626Gln)
|
rs144821643
|
0.00001
|
|
NM_004415.4(DSP):c.7910T>C (p.Ile2637Thr)
|
rs1229128923
|
0.00001
|
|
NM_004415.4(DSP):c.7918G>T (p.Gly2640Cys)
|
rs770390645
|
0.00001
|
|
NM_004415.4(DSP):c.7923C>T (p.Ile2641=)
|
rs773906008
|
0.00001
|
|
NM_004415.4(DSP):c.7926T>G (p.Val2642=)
|
rs917556170
|
0.00001
|
|
NM_004415.4(DSP):c.7934T>C (p.Ile2645Thr)
|
rs749682166
|
0.00001
|
|
NM_004415.4(DSP):c.7937C>T (p.Thr2646Met)
|
rs1425701789
|
0.00001
|
|
NM_004415.4(DSP):c.794G>A (p.Arg265Lys)
|
rs1064796438
|
0.00001
|
|
NM_004415.4(DSP):c.7962G>A (p.Gln2654=)
|
rs767539050
|
0.00001
|
|
NM_004415.4(DSP):c.7990A>G (p.Thr2664Ala)
|
rs1260154229
|
0.00001
|
|
NM_004415.4(DSP):c.7994C>T (p.Thr2665Met)
|
rs151309106
|
0.00001
|
|
NM_004415.4(DSP):c.8050A>G (p.Met2684Val)
|
rs147801650
|
0.00001
|
|
NM_004415.4(DSP):c.8053G>T (p.Ala2685Ser)
|
rs760754021
|
0.00001
|
|
NM_004415.4(DSP):c.8087T>C (p.Ile2696Thr)
|
rs1415854040
|
0.00001
|
|
NM_004415.4(DSP):c.8094C>T (p.Phe2698=)
|
rs1201885200
|
0.00001
|
|
NM_004415.4(DSP):c.809G>A (p.Arg270Gln)
|
rs1203795810
|
0.00001
|
|
NM_004415.4(DSP):c.8123C>T (p.Ser2708Leu)
|
rs1194266904
|
0.00001
|
|
NM_004415.4(DSP):c.8133G>T (p.Glu2711Asp)
|
rs375348086
|
0.00001
|
|
NM_004415.4(DSP):c.8136A>T (p.Ala2712=)
|
rs1759620884
|
0.00001
|
|
NM_004415.4(DSP):c.8152C>A (p.Leu2718Ile)
|
rs727504569
|
0.00001
|
|
NM_004415.4(DSP):c.8159A>T (p.Tyr2720Phe)
|
rs367972703
|
0.00001
|
|
NM_004415.4(DSP):c.8174G>A (p.Arg2725His)
|
rs776674939
|
0.00001
|
|
NM_004415.4(DSP):c.8197A>T (p.Thr2733Ser)
|
rs1157650702
|
0.00001
|
|
NM_004415.4(DSP):c.8235A>G (p.Ile2745Met)
|
rs768893360
|
0.00001
|
|
NM_004415.4(DSP):c.8277C>T (p.Arg2759=)
|
rs1248664648
|
0.00001
|
|
NM_004415.4(DSP):c.8278G>A (p.Ala2760Thr)
|
rs991726607
|
0.00001
|
|
NM_004415.4(DSP):c.8309A>G (p.Tyr2770Cys)
|
rs371020228
|
0.00001
|
|
NM_004415.4(DSP):c.8310T>C (p.Tyr2770=)
|
rs750982524
|
0.00001
|
|
NM_004415.4(DSP):c.8364C>T (p.Ala2788=)
|
rs756256863
|
0.00001
|
|
NM_004415.4(DSP):c.8372G>A (p.Arg2791His)
|
rs749339594
|
0.00001
|
|
NM_004415.4(DSP):c.8390T>C (p.Ile2797Thr)
|
rs769734918
|
0.00001
|
|
NM_004415.4(DSP):c.8476C>T (p.Arg2826Cys)
|
rs139969658
|
0.00001
|
|
NM_004415.4(DSP):c.8477G>A (p.Arg2826His)
|
rs548754771
|
0.00001
|
|
NM_004415.4(DSP):c.8498C>G (p.Ser2833Cys)
|
rs767961179
|
0.00001
|
|
NM_004415.4(DSP):c.8508A>G (p.Gly2836=)
|
rs754074127
|
0.00001
|
|
NM_004415.4(DSP):c.8511T>C (p.Ser2837=)
|
rs757475874
|
0.00001
|
|
NM_004415.4(DSP):c.8529T>C (p.Ser2843=)
|
rs780005300
|
0.00001
|
|
NM_004415.4(DSP):c.8539A>C (p.Arg2847=)
|
rs113629968
|
0.00001
|
|
NM_004415.4(DSP):c.8566T>A (p.Ser2856Thr)
|
rs148550678
|
0.00001
|
|
NM_004415.4(DSP):c.8580T>C (p.Tyr2860=)
|
rs201441128
|
0.00001
|
|
NM_004415.4(DSP):c.8610G>A (p.Gly2870=)
|
rs910215418
|
0.00001
|
|
NM_004415.4(DSP):c.939+19G>T
|
rs777724973
|
0.00001
|
|
NM_004415.4(DSP):c.940-5C>T
|
rs368391882
|
0.00001
|
|
NM_004415.4(DSP):c.940-9C>T
|
rs1016646349
|
0.00001
|
|
NM_004415.4(DSP):c.946A>G (p.Met316Val)
|
rs201672777
|
0.00001
|
|
NM_004415.4(DSP):c.965A>G (p.Lys322Arg)
|
rs757098196
|
0.00001
|
|
NM_004415.4(DSP):c.976C>T (p.Leu326Phe)
|
rs117961973
|
0.00001
|
|
NM_004415.4(DSP):c.998G>A (p.Ser333Asn)
|
rs749695729
|
0.00001
|
|
NM_004415.4(DSP):c.9C>T (p.Cys3=)
|
rs769032973
|
0.00001
|
|
NM_004453.4(ETFDH):c.1083C>T (p.Tyr361=)
|
rs765063539
|
0.00001
|
|
NM_004453.4(ETFDH):c.108T>G (p.Thr36=)
|
rs140731939
|
0.00001
|
|
NM_004453.4(ETFDH):c.1107T>C (p.Gly369=)
|
rs781782240
|
0.00001
|
|
NM_004453.4(ETFDH):c.1116+10C>T
|
rs1417738324
|
0.00001
|
|
NM_004453.4(ETFDH):c.1117-4T>C
|
rs940742984
|
0.00001
|
|
NM_004453.4(ETFDH):c.1233A>C (p.Ala411=)
|
rs772194053
|
0.00001
|
|
NM_004453.4(ETFDH):c.1286-16A>G
|
rs1163678059
|
0.00001
|
|
NM_004453.4(ETFDH):c.1286-8A>T
|
rs1054882235
|
0.00001
|
|
NM_004453.4(ETFDH):c.1290C>G (p.Leu430=)
|
rs770765347
|
0.00001
|
|
NM_004453.4(ETFDH):c.1293T>C (p.His431=)
|
rs745559526
|
0.00001
|
|
NM_004453.4(ETFDH):c.12G>A (p.Pro4=)
|
rs373776053
|
0.00001
|
|
NM_004453.4(ETFDH):c.1326A>T (p.Ser442=)
|
rs1188056766
|
0.00001
|
|
NM_004453.4(ETFDH):c.1344A>G (p.Leu448=)
|
rs765652548
|
0.00001
|
|
NM_004453.4(ETFDH):c.1368G>A (p.Pro456=)
|
rs781354386
|
0.00001
|
|
NM_004453.4(ETFDH):c.1377C>T (p.His459=)
|
rs1243627865
|
0.00001
|
|
NM_004453.4(ETFDH):c.1432T>C (p.Leu478=)
|
rs1774615019
|
0.00001
|
|
NM_004453.4(ETFDH):c.1468+8A>G
|
rs755214741
|
0.00001
|
|
NM_004453.4(ETFDH):c.1506C>T (p.Cys502=)
|
rs1405831535
|
0.00001
|
|
NM_004453.4(ETFDH):c.1512T>C (p.Pro504=)
|
rs940960964
|
0.00001
|
|
NM_004453.4(ETFDH):c.1530C>T (p.Pro510=)
|
rs754795292
|
0.00001
|
|
NM_004453.4(ETFDH):c.1653G>A (p.Ser551=)
|
rs1408118210
|
0.00001
|
|
NM_004453.4(ETFDH):c.1665G>A (p.Gly555=)
|
rs1305282556
|
0.00001
|
|
NM_004453.4(ETFDH):c.1668C>T (p.Pro556=)
|
rs747312700
|
0.00001
|
|
NM_004453.4(ETFDH):c.1734G>A (p.Arg578=)
|
rs761505388
|
0.00001
|
|
NM_004453.4(ETFDH):c.1758T>C (p.Cys586=)
|
rs755342205
|
0.00001
|
|
NM_004453.4(ETFDH):c.219A>T (p.Ile73=)
|
rs1297866480
|
0.00001
|
|
NM_004453.4(ETFDH):c.267G>A (p.Gln89=)
|
rs1773880095
|
0.00001
|
|
NM_004453.4(ETFDH):c.27C>T (p.Ser9=)
|
rs746903871
|
0.00001
|
|
NM_004453.4(ETFDH):c.34+7G>A
|
rs1436016069
|
0.00001
|
|
NM_004453.4(ETFDH):c.342C>T (p.Leu114=)
|
rs770193214
|
0.00001
|
|
NM_004453.4(ETFDH):c.363A>G (p.Pro121=)
|
rs1773885365
|
0.00001
|
|
NM_004453.4(ETFDH):c.399G>A (p.Glu133=)
|
rs1319398122
|
0.00001
|
|
NM_004453.4(ETFDH):c.414T>G (p.Leu138=)
|
rs751256504
|
0.00001
|
|
NM_004453.4(ETFDH):c.459A>G (p.Lys153=)
|
rs749702132
|
0.00001
|
|
NM_004453.4(ETFDH):c.507T>C (p.His169=)
|
rs772286040
|
0.00001
|
|
NM_004453.4(ETFDH):c.552C>T (p.Gly184=)
|
rs752262349
|
0.00001
|
|
NM_004453.4(ETFDH):c.654T>C (p.Asp218=)
|
rs1241684347
|
0.00001
|
|
NM_004453.4(ETFDH):c.738A>G (p.Glu246=)
|
rs1212314821
|
0.00001
|
|
NM_004453.4(ETFDH):c.768A>G (p.Leu256=)
|
rs1481843055
|
0.00001
|
|
NM_004453.4(ETFDH):c.777G>A (p.Lys259=)
|
rs1365101415
|
0.00001
|
|
NM_004453.4(ETFDH):c.832-19T>G
|
rs775057755
|
0.00001
|
|
NM_004453.4(ETFDH):c.832-5T>C
|
rs768022965
|
0.00001
|
|
NM_004453.4(ETFDH):c.832-8T>A
|
rs912481593
|
0.00001
|
|
NM_004453.4(ETFDH):c.84A>G (p.Leu28=)
|
rs1053865022
|
0.00001
|
|
NM_004453.4(ETFDH):c.870A>G (p.Arg290=)
|
rs752487495
|
0.00001
|
|
NM_004453.4(ETFDH):c.969T>G (p.Leu323=)
|
rs753462513
|
0.00001
|
|
NM_004517.4(ILK):c.1122C>T (p.Asp374=)
|
rs1237951284
|
0.00001
|
|
NM_004517.4(ILK):c.1188C>A (p.Ser396=)
|
rs769331209
|
0.00001
|
|
NM_004517.4(ILK):c.1197G>A (p.Glu399=)
|
rs1057522211
|
0.00001
|
|
NM_004517.4(ILK):c.12T>A (p.Ile4=)
|
rs747409130
|
0.00001
|
|
NM_004517.4(ILK):c.171G>A (p.Gly57=)
|
rs199880663
|
0.00001
|
|
NM_004517.4(ILK):c.231T>C (p.His77=)
|
rs757605280
|
0.00001
|
|
NM_004517.4(ILK):c.234A>G (p.Gly78=)
|
rs376885008
|
0.00001
|
|
NM_004517.4(ILK):c.468C>A (p.Gly156=)
|
rs775797550
|
0.00001
|
|
NM_004517.4(ILK):c.600C>T (p.Asn200=)
|
rs760482273
|
0.00001
|
|
NM_004517.4(ILK):c.654C>T (p.Val218=)
|
rs770261491
|
0.00001
|
|
NM_004517.4(ILK):c.801C>T (p.Leu267=)
|
rs769777649
|
0.00001
|
|
NM_004517.4(ILK):c.861C>T (p.Phe287=)
|
rs779980137
|
0.00001
|
|
NM_004517.4(ILK):c.909G>A (p.Arg303=)
|
rs372479913
|
0.00001
|
|
NM_004517.4(ILK):c.930A>T (p.Thr310=)
|
rs1855316786
|
0.00001
|
|
NM_005159.5(ACTC1):c.1035C>T (p.Gly345=)
|
rs1430980455
|
0.00001
|
|
NM_005159.5(ACTC1):c.1044G>A (p.Leu348=)
|
rs1461497941
|
0.00001
|
|
NM_005159.5(ACTC1):c.108C>T (p.Ile36=)
|
rs1457769757
|
0.00001
|
|
NM_005159.5(ACTC1):c.1098G>A (p.Glu366=)
|
rs758173419
|
0.00001
|
|
NM_005159.5(ACTC1):c.1131C>T (p.Phe377=)
|
rs764683976
|
0.00001
|
|
NM_005159.5(ACTC1):c.117C>T (p.Arg39=)
|
rs751851323
|
0.00001
|
|
NM_005159.5(ACTC1):c.120G>A (p.Pro40=)
|
rs766934253
|
0.00001
|
|
NM_005159.5(ACTC1):c.12C>T (p.Asp4=)
|
rs768526036
|
0.00001
|
|
NM_005159.5(ACTC1):c.130-4A>T
|
rs772110994
|
0.00001
|
|
NM_005159.5(ACTC1):c.240C>T (p.Asn80=)
|
rs1178754602
|
0.00001
|
|
NM_005159.5(ACTC1):c.318G>A (p.Leu106=)
|
rs1335305223
|
0.00001
|
|
NM_005159.5(ACTC1):c.352C>A (p.Arg118=)
|
rs1159252460
|
0.00001
|
|
NM_005159.5(ACTC1):c.369G>A (p.Gln123=)
|
rs768169477
|
0.00001
|
|
NM_005159.5(ACTC1):c.423G>A (p.Val141=)
|
rs922191208
|
0.00001
|
|
NM_005159.5(ACTC1):c.432G>T (p.Leu144=)
|
rs1595761302
|
0.00001
|
|
NM_005159.5(ACTC1):c.441T>C (p.Ser147=)
|
rs1199593688
|
0.00001
|
|
NM_005159.5(ACTC1):c.447T>C (p.Arg149=)
|
rs1315206069
|
0.00001
|
|
NM_005159.5(ACTC1):c.455-14A>G
|
rs902599585
|
0.00001
|
|
NM_005159.5(ACTC1):c.455-4G>A
|
rs746508669
|
0.00001
|
|
NM_005159.5(ACTC1):c.455-9C>T
|
rs1891726942
|
0.00001
|
|
NM_005159.5(ACTC1):c.609C>T (p.Val203=)
|
rs1055408313
|
0.00001
|
|
NM_005159.5(ACTC1):c.617-7T>C
|
rs750536667
|
0.00001
|
|
NM_005159.5(ACTC1):c.633C>T (p.Val211=)
|
rs199947846
|
0.00001
|
|
NM_005159.5(ACTC1):c.663C>T (p.Val221=)
|
rs766868624
|
0.00001
|
|
NM_005159.5(ACTC1):c.747C>T (p.Val249=)
|
rs1470571495
|
0.00001
|
|
NM_005159.5(ACTC1):c.756T>C (p.Ile252=)
|
rs371940910
|
0.00001
|
|
NM_005159.5(ACTC1):c.792C>T (p.Phe264=)
|
rs769158928
|
0.00001
|
|
NM_005159.5(ACTC1):c.809-9C>T
|
rs752499457
|
0.00001
|
|
NM_005159.5(ACTC1):c.81C>T (p.Asp27=)
|
rs753552901
|
0.00001
|
|
NM_005159.5(ACTC1):c.93T>C (p.Ala31=)
|
rs1341945129
|
0.00001
|
|
NM_005159.5(ACTC1):c.942T>C (p.Arg314=)
|
rs778914066
|
0.00001
|
|
NM_005343.4(HRAS):c.111+11C>T
|
rs758933104
|
0.00001
|
|
NM_005343.4(HRAS):c.111+14C>T
|
rs372917082
|
0.00001
|
|
NM_005343.4(HRAS):c.111+17C>T
|
rs1851313358
|
0.00001
|
|
NM_005343.4(HRAS):c.111+18G>A
|
rs759743352
|
0.00001
|
|
NM_005343.4(HRAS):c.112-10C>T
|
rs727503092
|
0.00001
|
|
NM_005343.4(HRAS):c.112-13T>A
|
rs766582484
|
0.00001
|
|
NM_005343.4(HRAS):c.112-9C>T
|
rs1851288449
|
0.00001
|
|
NM_005343.4(HRAS):c.120C>T (p.Tyr40=)
|
rs763920334
|
0.00001
|
|
NM_005343.4(HRAS):c.126G>A (p.Lys42=)
|
rs775378080
|
0.00001
|
|
NM_005343.4(HRAS):c.141T>C (p.Asp47=)
|
rs765092617
|
0.00001
|
|
NM_005343.4(HRAS):c.150G>A (p.Thr50=)
|
rs1057520421
|
0.00001
|
|
NM_005343.4(HRAS):c.15G>A (p.Lys5=)
|
rs1368820132
|
0.00001
|
|
NM_005343.4(HRAS):c.171T>C (p.Asp57=)
|
rs776105083
|
0.00001
|
|
NM_005343.4(HRAS):c.174C>T (p.Thr58=)
|
rs746639086
|
0.00001
|
|
NM_005343.4(HRAS):c.198C>T (p.Ala66=)
|
rs1851279330
|
0.00001
|
|
NM_005343.4(HRAS):c.202C>A (p.Arg68=)
|
rs1370690781
|
0.00001
|
|
NM_005343.4(HRAS):c.210G>A (p.Gln70=)
|
rs1371974169
|
0.00001
|
|
NM_005343.4(HRAS):c.219C>T (p.Arg73=)
|
rs749870259
|
0.00001
|
|
NM_005343.4(HRAS):c.228G>A (p.Glu76=)
|
rs1057522598
|
0.00001
|
|
NM_005343.4(HRAS):c.231C>T (p.Gly77=)
|
rs1182602668
|
0.00001
|
|
NM_005343.4(HRAS):c.235C>T (p.Leu79=)
|
rs193163027
|
0.00001
|
|
NM_005343.4(HRAS):c.24G>C (p.Val8=)
|
rs1451160542
|
0.00001
|
|
NM_005343.4(HRAS):c.288C>T (p.Tyr96=)
|
rs367794954
|
0.00001
|
|
NM_005343.4(HRAS):c.290+14G>A
|
rs780757384
|
0.00001
|
|
NM_005343.4(HRAS):c.291-16G>A
|
rs779917193
|
0.00001
|
|
NM_005343.4(HRAS):c.291-17C>T
|
rs753558541
|
0.00001
|
|
NM_005343.4(HRAS):c.291-9del
|
rs749335082
|
0.00001
|
|
NM_005343.4(HRAS):c.30C>T (p.Gly10=)
|
rs752765965
|
0.00001
|
|
NM_005343.4(HRAS):c.318G>A (p.Ser106=)
|
rs1053376922
|
0.00001
|
|
NM_005343.4(HRAS):c.324C>T (p.Asp108=)
|
rs770260347
|
0.00001
|
|
NM_005343.4(HRAS):c.33C>T (p.Ala11=)
|
rs1162804656
|
0.00001
|
|
NM_005343.4(HRAS):c.360G>C (p.Leu120=)
|
rs1851245565
|
0.00001
|
|
NM_005343.4(HRAS):c.411C>T (p.Tyr137=)
|
rs1471385417
|
0.00001
|
|
NM_005343.4(HRAS):c.426C>T (p.Ile142=)
|
rs533567288
|
0.00001
|
|
NM_005343.4(HRAS):c.435G>A (p.Ser145=)
|
rs747008553
|
0.00001
|
|
NM_005343.4(HRAS):c.441G>A (p.Lys147=)
|
rs777386438
|
0.00001
|
|
NM_005343.4(HRAS):c.450+15C>T
|
rs1851235106
|
0.00001
|
|
NM_005343.4(HRAS):c.450+16A>G
|
rs754589455
|
0.00001
|
|
NM_005343.4(HRAS):c.450+18C>T
|
rs1057522255
|
0.00001
|
|
NM_005343.4(HRAS):c.451-13C>T
|
rs761468352
|
0.00001
|
|
NM_005343.4(HRAS):c.451-14C>T
|
rs367678988
|
0.00001
|
|
NM_005343.4(HRAS):c.451-8T>C
|
rs373444310
|
0.00001
|
|
NM_005343.4(HRAS):c.462T>C (p.Asp154=)
|
rs1412169294
|
0.00001
|
|
NM_005343.4(HRAS):c.465C>T (p.Ala155=)
|
rs375878504
|
0.00001
|
|
NM_005343.4(HRAS):c.468C>T (p.Phe156=)
|
rs770648642
|
0.00001
|
|
NM_005343.4(HRAS):c.474G>A (p.Thr158=)
|
rs747269683
|
0.00001
|
|
NM_005343.4(HRAS):c.492G>A (p.Arg164=)
|
rs1461319720
|
0.00001
|
|
NM_005343.4(HRAS):c.498C>A (p.His166Gln)
|
rs878854760
|
0.00001
|
|
NM_005343.4(HRAS):c.510G>A (p.Lys170=)
|
rs397517143
|
0.00001
|
|
NM_005343.4(HRAS):c.516C>T (p.Asn172=)
|
rs765180494
|
0.00001
|
|
NM_005343.4(HRAS):c.519T>G (p.Pro173=)
|
rs759004302
|
0.00001
|
|
NM_005343.4(HRAS):c.537C>T (p.Pro179=)
|
rs371316832
|
0.00001
|
|
NM_005343.4(HRAS):c.6G>A (p.Thr2=)
|
rs751944063
|
0.00001
|
|
NM_005343.4(HRAS):c.90C>T (p.Asp30=)
|
rs745489020
|
0.00001
|
|
NM_005921.2(MAP3K1):c.1015C>T (p.Arg339Trp)
|
rs373572109
|
0.00001
|
|
NM_005921.2(MAP3K1):c.1613A>G (p.Asn538Ser)
|
rs374113323
|
0.00001
|
|
NM_005921.2(MAP3K1):c.3828T>C (p.Tyr1276=)
|
rs372801625
|
0.00001
|
|
NM_005921.2(MAP3K1):c.3957C>T (p.Tyr1319=)
|
rs1478914246
|
0.00001
|
|
NM_005921.2(MAP3K1):c.4304T>C (p.Val1435Ala)
|
rs1356600233
|
0.00001
|
|
NM_006073.4(TRDN):c.1051+7C>A
|
rs767743181
|
0.00001
|
|
NM_006073.4(TRDN):c.1052-9del
|
rs1404718387
|
0.00001
|
|
NM_006073.4(TRDN):c.1083G>C (p.Gly361=)
|
rs878854815
|
0.00001
|
|
NM_006073.4(TRDN):c.1101A>G (p.Ala367=)
|
rs1186052488
|
0.00001
|
|
NM_006073.4(TRDN):c.1106-16A>G
|
rs1195466991
|
0.00001
|
|
NM_006073.4(TRDN):c.1135+10A>T
|
rs765785141
|
0.00001
|
|
NM_006073.4(TRDN):c.1136-14C>T
|
rs1781747541
|
0.00001
|
|
NM_006073.4(TRDN):c.1136-19T>C
|
rs1454829896
|
0.00001
|
|
NM_006073.4(TRDN):c.1219+8T>A
|
rs749762696
|
0.00001
|
|
NM_006073.4(TRDN):c.1220-19T>G
|
rs1278216509
|
0.00001
|
|
NM_006073.4(TRDN):c.1305G>A (p.Ala435=)
|
rs1170118704
|
0.00001
|
|
NM_006073.4(TRDN):c.1383A>G (p.Glu461=)
|
rs1279027887
|
0.00001
|
|
NM_006073.4(TRDN):c.1421-15G>A
|
rs561559208
|
0.00001
|
|
NM_006073.4(TRDN):c.1471+11A>G
|
rs1562265333
|
0.00001
|
|
NM_006073.4(TRDN):c.1471+7T>G
|
rs766394390
|
0.00001
|
|
NM_006073.4(TRDN):c.1510+10T>C
|
rs762076675
|
0.00001
|
|
NM_006073.4(TRDN):c.1533T>C (p.Pro511=)
|
rs1216108172
|
0.00001
|
|
NM_006073.4(TRDN):c.1563G>A (p.Lys521=)
|
rs573190326
|
0.00001
|
|
NM_006073.4(TRDN):c.1567+18A>G
|
rs1323353333
|
0.00001
|
|
NM_006073.4(TRDN):c.1593A>G (p.Lys531=)
|
rs769926882
|
0.00001
|
|
NM_006073.4(TRDN):c.1597+10G>T
|
rs150165710
|
0.00001
|
|
NM_006073.4(TRDN):c.1597+20A>G
|
rs1334825625
|
0.00001
|
|
NM_006073.4(TRDN):c.1614G>A (p.Val538=)
|
rs566498843
|
0.00001
|
|
NM_006073.4(TRDN):c.1625-8A>G
|
rs776538507
|
0.00001
|
|
NM_006073.4(TRDN):c.1695A>G (p.Val565=)
|
rs1480745340
|
0.00001
|
|
NM_006073.4(TRDN):c.1738+8A>G
|
rs368262681
|
0.00001
|
|
NM_006073.4(TRDN):c.1952-5T>C
|
rs780537847
|
0.00001
|
|
NM_006073.4(TRDN):c.1962T>G (p.Pro654=)
|
rs1021493361
|
0.00001
|
|
NM_006073.4(TRDN):c.2007A>G (p.Lys669=)
|
rs758215926
|
0.00001
|
|
NM_006073.4(TRDN):c.2015-9A>G
|
rs774914841
|
0.00001
|
|
NM_006073.4(TRDN):c.2050+9A>G
|
rs778722280
|
0.00001
|
|
NM_006073.4(TRDN):c.2091C>T (p.Tyr697=)
|
rs749118163
|
0.00001
|
|
NM_006073.4(TRDN):c.22+18C>T
|
rs549609889
|
0.00001
|
|
NM_006073.4(TRDN):c.232+8C>A
|
rs371069080
|
0.00001
|
|
NM_006073.4(TRDN):c.480T>G (p.Thr160=)
|
rs1020844292
|
0.00001
|
|
NM_006073.4(TRDN):c.485-13T>C
|
rs886061034
|
0.00001
|
|
NM_006073.4(TRDN):c.502G>A (p.Glu168Lys)
|
rs545032318
|
0.00001
|
|
NM_006073.4(TRDN):c.576A>G (p.Lys192=)
|
rs756125825
|
0.00001
|
|
NM_006073.4(TRDN):c.606G>A (p.Ala202=)
|
rs1410476969
|
0.00001
|
|
NM_006073.4(TRDN):c.610+19A>G
|
rs1482036297
|
0.00001
|
|
NM_006073.4(TRDN):c.630T>A (p.Thr210=)
|
rs983727872
|
0.00001
|
|
NM_006073.4(TRDN):c.804A>G (p.Ala268=)
|
rs748948862
|
0.00001
|
|
NM_006073.4(TRDN):c.854-7T>C
|
rs762404582
|
0.00001
|
|
NM_006073.4(TRDN):c.885G>A (p.Pro295=)
|
rs769189541
|
0.00001
|
|
NM_006073.4(TRDN):c.894A>G (p.Gln298=)
|
rs1489564658
|
0.00001
|
|
NM_006073.4(TRDN):c.931+14T>C
|
rs1776694685
|
0.00001
|
|
NM_006073.4(TRDN):c.991+10T>G
|
rs1451400888
|
0.00001
|
|
NM_006073.4(TRDN):c.991+11T>G
|
rs1245038855
|
0.00001
|
|
NM_006270.5(RRAS):c.102C>T (p.Val34=)
|
rs754204165
|
0.00001
|
|
NM_006270.5(RRAS):c.201G>A (p.Thr67=)
|
rs1421164782
|
0.00001
|
|
NM_006270.5(RRAS):c.241+13A>G
|
rs765391621
|
0.00001
|
|
NM_006270.5(RRAS):c.351C>T (p.Asn117=)
|
rs374077706
|
0.00001
|
|
NM_006270.5(RRAS):c.363G>A (p.Lys121=)
|
rs557007484
|
0.00001
|
|
NM_006270.5(RRAS):c.372G>A (p.Thr124=)
|
rs368978550
|
0.00001
|
|
NM_006270.5(RRAS):c.37C>A (p.Arg13=)
|
rs1272875791
|
0.00001
|
|
NM_006270.5(RRAS):c.396C>T (p.Arg132=)
|
rs748366671
|
0.00001
|
|
NM_006270.5(RRAS):c.534C>T (p.Asn178=)
|
rs773121618
|
0.00001
|
|
NM_006270.5(RRAS):c.624G>A (p.Lys208=)
|
rs775471738
|
0.00001
|
|
NM_006270.5(RRAS):c.652C>T (p.Leu218=)
|
rs781768996
|
0.00001
|
|
NM_006270.5(RRAS):c.69C>T (p.Asp23=)
|
rs1458889244
|
0.00001
|
|
NM_006284.4(TAF10):c.*1269A>G
|
rs1855301341
|
0.00001
|
|
NM_006284.4(TAF10):c.*1501C>T
|
rs368709206
|
0.00001
|
|
NM_006284.4(TAF10):c.*2049A>G
|
rs1465056090
|
0.00001
|
|
NM_006284.4(TAF10):c.*2053C>T
|
rs368896352
|
0.00001
|
|
NM_006393.3(NEBL):c.1074A>G (p.Pro358=)
|
rs1180113998
|
0.00001
|
|
NM_006393.3(NEBL):c.1346A>G (p.Tyr449Cys)
|
rs535927510
|
0.00001
|
|
NM_006393.3(NEBL):c.1449+8G>C
|
rs754000768
|
0.00001
|
|
NM_006393.3(NEBL):c.1560+10C>A
|
rs753190648
|
0.00001
|
|
NM_006393.3(NEBL):c.1560+15A>T
|
rs190353004
|
0.00001
|
|
NM_006393.3(NEBL):c.1632T>C (p.Asp544=)
|
rs1308048675
|
0.00001
|
|
NM_006393.3(NEBL):c.2016G>A (p.Glu672=)
|
rs757626106
|
0.00001
|
|
NM_006393.3(NEBL):c.2055+8G>A
|
rs747359685
|
0.00001
|
|
NM_006393.3(NEBL):c.2232T>C (p.Asn744=)
|
rs1588672485
|
0.00001
|
|
NM_006393.3(NEBL):c.2451C>T (p.Ser817=)
|
rs375714953
|
0.00001
|
|
NM_006393.3(NEBL):c.2518+10C>T
|
rs747607700
|
0.00001
|
|
NM_006393.3(NEBL):c.2547C>T (p.Gly849=)
|
rs180850975
|
0.00001
|
|
NM_006393.3(NEBL):c.2607C>G (p.Leu869=)
|
rs773544548
|
0.00001
|
|
NM_006393.3(NEBL):c.2679C>T (p.Leu893=)
|
rs1437022892
|
0.00001
|
|
NM_006393.3(NEBL):c.2868+19C>T
|
rs41277364
|
0.00001
|
|
NM_006393.3(NEBL):c.2869-15T>A
|
rs746451058
|
0.00001
|
|
NM_006393.3(NEBL):c.2869-16C>T
|
rs192193707
|
0.00001
|
|
NM_006393.3(NEBL):c.2931C>T (p.Asp977=)
|
rs375982678
|
0.00001
|
|
NM_006393.3(NEBL):c.300T>C (p.Ser100=)
|
rs747440079
|
0.00001
|
|
NM_006393.3(NEBL):c.360C>T (p.Leu120=)
|
rs1253834442
|
0.00001
|
|
NM_006393.3(NEBL):c.435C>T (p.Pro145=)
|
rs202130632
|
0.00001
|
|
NM_006393.3(NEBL):c.438T>C (p.Pro146=)
|
rs780880217
|
0.00001
|
|
NM_006393.3(NEBL):c.450T>C (p.His150=)
|
rs1291636433
|
0.00001
|
|
NM_006393.3(NEBL):c.516G>A (p.Thr172=)
|
rs143962290
|
0.00001
|
|
NM_006393.3(NEBL):c.534C>T (p.Asp178=)
|
rs374344424
|
0.00001
|
|
NM_006393.3(NEBL):c.583-15A>G
|
rs561521823
|
0.00001
|
|
NM_006393.3(NEBL):c.591C>T (p.Tyr197=)
|
rs773877708
|
0.00001
|
|
NM_006393.3(NEBL):c.738C>T (p.Tyr246=)
|
rs778455217
|
0.00001
|
|
NM_006393.3(NEBL):c.837A>G (p.Pro279=)
|
rs1211641825
|
0.00001
|
|
NM_006393.3(NEBL):c.903+18C>T
|
rs993846016
|
0.00001
|
|
NM_006393.3(NEBL):c.921C>A (p.Leu307=)
|
rs369291648
|
0.00001
|
|
NM_006393.3(NEBL):c.96T>C (p.Pro32=)
|
rs1210614574
|
0.00001
|
|
NM_006393.3(NEBL):c.972T>C (p.His324=)
|
rs764659096
|
0.00001
|
|
NM_006440.5(TXNRD2):c.103+14G>A
|
rs1158625236
|
0.00001
|
|
NM_006440.5(TXNRD2):c.1065C>T (p.Tyr355=)
|
rs377072227
|
0.00001
|
|
NM_006440.5(TXNRD2):c.1131C>T (p.Leu377=)
|
rs773930137
|
0.00001
|
|
NM_006440.5(TXNRD2):c.1194C>T (p.Thr398=)
|
rs372301925
|
0.00001
|
|
NM_006440.5(TXNRD2):c.1276-10C>T
|
rs755455290
|
0.00001
|
|
NM_006440.5(TXNRD2):c.1276-6C>T
|
rs780563496
|
0.00001
|
|
NM_006440.5(TXNRD2):c.1383G>A (p.Leu461=)
|
rs1242700354
|
0.00001
|
|
NM_006440.5(TXNRD2):c.1401C>T (p.Gly467=)
|
rs886038873
|
0.00001
|
|
NM_006440.5(TXNRD2):c.1445+9C>T
|
rs533782247
|
0.00001
|
|
NM_006440.5(TXNRD2):c.1446-14T>C
|
rs778583264
|
0.00001
|
|
NM_006440.5(TXNRD2):c.1449T>C (p.Cys483=)
|
rs1194743410
|
0.00001
|
|
NM_006440.5(TXNRD2):c.156G>A (p.Leu52=)
|
rs939642675
|
0.00001
|
|
NM_006440.5(TXNRD2):c.172+12G>A
|
rs775588476
|
0.00001
|
|
NM_006440.5(TXNRD2):c.172+20C>A
|
rs760016716
|
0.00001
|
|
NM_006440.5(TXNRD2):c.230-8C>T
|
rs750889743
|
0.00001
|
|
NM_006440.5(TXNRD2):c.264C>T (p.Asn88=)
|
rs575321083
|
0.00001
|
|
NM_006440.5(TXNRD2):c.309G>A (p.Leu103=)
|
rs762625233
|
0.00001
|
|
NM_006440.5(TXNRD2):c.366G>A (p.Pro122=)
|
rs3747068
|
0.00001
|
|
NM_006440.5(TXNRD2):c.36A>G (p.Gly12=)
|
rs1460726198
|
0.00001
|
|
NM_006440.5(TXNRD2):c.449+11T>C
|
rs767028260
|
0.00001
|
|
NM_006440.5(TXNRD2):c.532C>T (p.Leu178=)
|
rs1416081507
|
0.00001
|
|
NM_006440.5(TXNRD2):c.588G>A (p.Thr196=)
|
rs377699868
|
0.00001
|
|
NM_006440.5(TXNRD2):c.672C>T (p.Val224=)
|
rs768078454
|
0.00001
|
|
NM_006440.5(TXNRD2):c.756C>T (p.Pro252=)
|
rs1371426999
|
0.00001
|
|
NM_006440.5(TXNRD2):c.774+16C>G
|
rs938145163
|
0.00001
|
|
NM_006440.5(TXNRD2):c.775-8C>T
|
rs1452168947
|
0.00001
|
|
NM_006440.5(TXNRD2):c.849G>T (p.Arg283=)
|
rs559964753
|
0.00001
|
|
NM_006440.5(TXNRD2):c.861C>T (p.Leu287=)
|
rs746457439
|
0.00001
|
|
NM_006440.5(TXNRD2):c.949+14G>A
|
rs373223971
|
0.00001
|
|
NM_006440.5(TXNRD2):c.950-19C>T
|
rs541350051
|
0.00001
|
|
NM_006440.5(TXNRD2):c.993G>C (p.Gly331=)
|
rs774604998
|
0.00001
|
|
NM_006912.6(RIT1):c.106+10A>G
|
rs781557110
|
0.00001
|
|
NM_006912.6(RIT1):c.107-9C>G
|
rs200597833
|
0.00001
|
|
NM_006912.6(RIT1):c.163+12C>A
|
rs372092063
|
0.00001
|
|
NM_006912.6(RIT1):c.164-11C>T
|
rs960250196
|
0.00001
|
|
NM_006912.6(RIT1):c.237+14G>C
|
rs772575179
|
0.00001
|
|
NM_006912.6(RIT1):c.238-19G>A
|
rs753538357
|
0.00001
|
|
NM_006912.6(RIT1):c.252C>T (p.Ala84=)
|
rs758393035
|
0.00001
|
|
NM_006912.6(RIT1):c.393T>C (p.Leu131=)
|
rs34974790
|
0.00001
|
|
NM_006912.6(RIT1):c.423A>G (p.Leu141=)
|
rs763445246
|
0.00001
|
|
NM_006912.6(RIT1):c.510T>C (p.Tyr170=)
|
rs765624804
|
0.00001
|
|
NM_006912.6(RIT1):c.516T>C (p.Asp172=)
|
rs148764677
|
0.00001
|
|
NM_006912.6(RIT1):c.540G>A (p.Arg180=)
|
rs369738767
|
0.00001
|
|
NM_006912.6(RIT1):c.564G>A (p.Glu188=)
|
rs1157330685
|
0.00001
|
|
NM_006912.6(RIT1):c.594G>A (p.Lys198=)
|
rs779457410
|
0.00001
|
|
NM_006912.6(RIT1):c.603C>T (p.Asn201=)
|
rs367886540
|
0.00001
|
|
NM_006912.6(RIT1):c.99G>A (p.Gly33=)
|
rs199914900
|
0.00001
|
|
NM_006939.4(SOS2):c.1059G>A (p.Glu353=)
|
rs1231657921
|
0.00001
|
|
NM_006939.4(SOS2):c.1068+20T>C
|
rs766636506
|
0.00001
|
|
NM_006939.4(SOS2):c.1072T>C (p.Leu358=)
|
rs751147588
|
0.00001
|
|
NM_006939.4(SOS2):c.1196+16T>A
|
rs1885007067
|
0.00001
|
|
NM_006939.4(SOS2):c.1211C>T (p.Pro404Leu)
|
rs201265921
|
0.00001
|
|
NM_006939.4(SOS2):c.1326C>T (p.Phe442=)
|
rs150365706
|
0.00001
|
|
NM_006939.4(SOS2):c.1443C>T (p.Tyr481=)
|
rs755043578
|
0.00001
|
|
NM_006939.4(SOS2):c.1446T>C (p.Ser482=)
|
rs1468565433
|
0.00001
|
|
NM_006939.4(SOS2):c.1458C>T (p.Tyr486=)
|
rs199651967
|
0.00001
|
|
NM_006939.4(SOS2):c.1714G>A (p.Val572Ile)
|
rs762733592
|
0.00001
|
|
NM_006939.4(SOS2):c.1716A>G (p.Val572=)
|
rs772880193
|
0.00001
|
|
NM_006939.4(SOS2):c.1839T>C (p.Tyr613=)
|
rs780152724
|
0.00001
|
|
NM_006939.4(SOS2):c.1853-10G>A
|
rs1033696008
|
0.00001
|
|
NM_006939.4(SOS2):c.1889G>A (p.Arg630His)
|
rs754778456
|
0.00001
|
|
NM_006939.4(SOS2):c.1911A>T (p.Glu637Asp)
|
rs751563078
|
0.00001
|
|
NM_006939.4(SOS2):c.1934+13T>C
|
rs764631414
|
0.00001
|
|
NM_006939.4(SOS2):c.1935-16T>C
|
rs750298172
|
0.00001
|
|
NM_006939.4(SOS2):c.1975T>C (p.Leu659=)
|
rs775886849
|
0.00001
|
|
NM_006939.4(SOS2):c.1989A>G (p.Lys663=)
|
rs1488158197
|
0.00001
|
|
NM_006939.4(SOS2):c.2057+15T>A
|
rs1374367606
|
0.00001
|
|
NM_006939.4(SOS2):c.214-12G>A
|
rs763259138
|
0.00001
|
|
NM_006939.4(SOS2):c.2161+10A>G
|
rs201629454
|
0.00001
|
|
NM_006939.4(SOS2):c.2162-11T>C
|
rs369526899
|
0.00001
|
|
NM_006939.4(SOS2):c.2184A>C (p.Val728=)
|
rs776046903
|
0.00001
|
|
NM_006939.4(SOS2):c.2246A>G (p.Asn749Ser)
|
rs761689009
|
0.00001
|
|
NM_006939.4(SOS2):c.2253C>T (p.Thr751=)
|
rs1050544302
|
0.00001
|
|
NM_006939.4(SOS2):c.2264C>T (p.Pro755Leu)
|
rs868005783
|
0.00001
|
|
NM_006939.4(SOS2):c.2271A>G (p.Pro757=)
|
rs1457757510
|
0.00001
|
|
NM_006939.4(SOS2):c.2290A>G (p.Ser764Gly)
|
rs779464455
|
0.00001
|
|
NM_006939.4(SOS2):c.2385-6C>T
|
rs147948407
|
0.00001
|
|
NM_006939.4(SOS2):c.2643A>G (p.Val881=)
|
rs1329137002
|
0.00001
|
|
NM_006939.4(SOS2):c.2646C>T (p.Tyr882=)
|
rs761205651
|
0.00001
|
|
NM_006939.4(SOS2):c.2668-10A>G
|
rs376672810
|
0.00001
|
|
NM_006939.4(SOS2):c.2730T>A (p.Phe910Leu)
|
rs756711721
|
0.00001
|
|
NM_006939.4(SOS2):c.273A>G (p.Gln91=)
|
rs757139228
|
0.00001
|
|
NM_006939.4(SOS2):c.2916T>C (p.Tyr972=)
|
rs979918396
|
0.00001
|
|
NM_006939.4(SOS2):c.2958+17C>T
|
rs889359090
|
0.00001
|
|
NM_006939.4(SOS2):c.3042T>A (p.Ile1014=)
|
rs1447097552
|
0.00001
|
|
NM_006939.4(SOS2):c.3076-20A>T
|
rs760423846
|
0.00001
|
|
NM_006939.4(SOS2):c.3079A>C (p.Arg1027=)
|
rs1273822060
|
0.00001
|
|
NM_006939.4(SOS2):c.3097T>C (p.Leu1033=)
|
rs1047180820
|
0.00001
|
|
NM_006939.4(SOS2):c.3138C>T (p.Gly1046=)
|
rs755189158
|
0.00001
|
|
NM_006939.4(SOS2):c.3153T>A (p.Thr1051=)
|
rs1156744729
|
0.00001
|
|
NM_006939.4(SOS2):c.3174A>G (p.Pro1058=)
|
rs763708050
|
0.00001
|
|
NM_006939.4(SOS2):c.3244G>A (p.Ala1082Thr)
|
rs1470270507
|
0.00001
|
|
NM_006939.4(SOS2):c.3267A>G (p.Pro1089=)
|
rs748295112
|
0.00001
|
|
NM_006939.4(SOS2):c.3279A>C (p.Pro1093=)
|
rs780697283
|
0.00001
|
|
NM_006939.4(SOS2):c.3338-6C>G
|
rs749149552
|
0.00001
|
|
NM_006939.4(SOS2):c.339G>A (p.Ser113=)
|
rs543155109
|
0.00001
|
|
NM_006939.4(SOS2):c.3407T>C (p.Leu1136Ser)
|
rs372874114
|
0.00001
|
|
NM_006939.4(SOS2):c.340T>C (p.Leu114=)
|
rs1886467495
|
0.00001
|
|
NM_006939.4(SOS2):c.3531G>A (p.Pro1177=)
|
rs1248324702
|
0.00001
|
|
NM_006939.4(SOS2):c.3573T>G (p.Val1191=)
|
rs756940411
|
0.00001
|
|
NM_006939.4(SOS2):c.357G>A (p.Gly119=)
|
rs749639774
|
0.00001
|
|
NM_006939.4(SOS2):c.360C>T (p.Tyr120=)
|
rs762044455
|
0.00001
|
|
NM_006939.4(SOS2):c.3615G>A (p.Pro1205=)
|
rs750601074
|
0.00001
|
|
NM_006939.4(SOS2):c.3642T>C (p.Asp1214=)
|
rs376033858
|
0.00001
|
|
NM_006939.4(SOS2):c.3698A>C (p.Asn1233Thr)
|
rs201756168
|
0.00001
|
|
NM_006939.4(SOS2):c.3738A>C (p.Ser1246=)
|
rs767257405
|
0.00001
|
|
NM_006939.4(SOS2):c.374A>T (p.His125Leu)
|
rs777300218
|
0.00001
|
|
NM_006939.4(SOS2):c.3774G>A (p.Ser1258=)
|
rs747521589
|
0.00001
|
|
NM_006939.4(SOS2):c.3782C>G (p.Thr1261Ser)
|
rs780772018
|
0.00001
|
|
NM_006939.4(SOS2):c.3815G>A (p.Arg1272His)
|
rs200104745
|
0.00001
|
|
NM_006939.4(SOS2):c.3824A>G (p.Tyr1275Cys)
|
rs371619971
|
0.00001
|
|
NM_006939.4(SOS2):c.3825T>C (p.Tyr1275=)
|
rs1163199209
|
0.00001
|
|
NM_006939.4(SOS2):c.384A>G (p.Leu128=)
|
rs772264111
|
0.00001
|
|
NM_006939.4(SOS2):c.3945G>A (p.Ser1315=)
|
rs143427064
|
0.00001
|
|
NM_006939.4(SOS2):c.3954A>G (p.Pro1318=)
|
rs751408063
|
0.00001
|
|
NM_006939.4(SOS2):c.396T>C (p.Ala132=)
|
rs774402309
|
0.00001
|
|
NM_006939.4(SOS2):c.3984A>G (p.Ala1328=)
|
rs776266602
|
0.00001
|
|
NM_006939.4(SOS2):c.3987A>C (p.Glu1329Asp)
|
rs146527239
|
0.00001
|
|
NM_006939.4(SOS2):c.592A>T (p.Asn198Tyr)
|
rs753283972
|
0.00001
|
|
NM_006939.4(SOS2):c.600T>C (p.Tyr200=)
|
rs766470992
|
0.00001
|
|
NM_006939.4(SOS2):c.680C>G (p.Ala227Gly)
|
rs756565236
|
0.00001
|
|
NM_006939.4(SOS2):c.753T>C (p.His251=)
|
rs1283549797
|
0.00001
|
|
NM_006939.4(SOS2):c.780G>T (p.Leu260Phe)
|
rs1348457314
|
0.00001
|
|
NM_006939.4(SOS2):c.804T>C (p.Thr268=)
|
rs750437794
|
0.00001
|
|
NM_006939.4(SOS2):c.813C>T (p.Ser271=)
|
rs371598827
|
0.00001
|
|
NM_006939.4(SOS2):c.839G>C (p.Cys280Ser)
|
rs530007285
|
0.00001
|
|
NM_006939.4(SOS2):c.84G>A (p.Arg28=)
|
rs766189187
|
0.00001
|
|
NM_006939.4(SOS2):c.858+7T>C
|
rs560994504
|
0.00001
|
|
NM_006939.4(SOS2):c.859-10A>T
|
rs761341096
|
0.00001
|
|
NM_006939.4(SOS2):c.87+19G>A
|
rs1409712681
|
0.00001
|
|
NM_006939.4(SOS2):c.88-13C>A
|
rs749789629
|
0.00001
|
|
NM_006939.4(SOS2):c.88-5T>A
|
rs767732779
|
0.00001
|
|
NM_006939.4(SOS2):c.954T>A (p.Val318=)
|
rs1376460738
|
0.00001
|
|
NM_006939.4(SOS2):c.958C>T (p.Leu320=)
|
rs777858898
|
0.00001
|
|
NM_012082.4(ZFPM2):c.1014C>T (p.Thr338=)
|
rs141238169
|
0.00001
|
|
NM_012082.4(ZFPM2):c.1071T>C (p.His357=)
|
rs1438808914
|
0.00001
|
|
NM_012082.4(ZFPM2):c.1161T>C (p.Pro387=)
|
rs1295146665
|
0.00001
|
|
NM_012082.4(ZFPM2):c.1851G>A (p.Glu617=)
|
rs376766358
|
0.00001
|
|
NM_012082.4(ZFPM2):c.2532C>T (p.Thr844=)
|
rs1391767231
|
0.00001
|
|
NM_012082.4(ZFPM2):c.2688G>A (p.Pro896=)
|
rs1434631824
|
0.00001
|
|
NM_012082.4(ZFPM2):c.2718T>C (p.Asp906=)
|
rs1456578169
|
0.00001
|
|
NM_012082.4(ZFPM2):c.302-5T>C
|
rs763335389
|
0.00001
|
|
NM_012082.4(ZFPM2):c.3060C>T (p.Ser1020=)
|
rs534751136
|
0.00001
|
|
NM_012082.4(ZFPM2):c.3231G>A (p.Ser1077=)
|
rs775570126
|
0.00001
|
|
NM_012082.4(ZFPM2):c.57C>T (p.Ala19=)
|
rs186003344
|
0.00001
|
|
NM_012082.4(ZFPM2):c.582G>A (p.Glu194=)
|
rs758169109
|
0.00001
|
|
NM_012082.4(ZFPM2):c.660T>C (p.Pro220=)
|
rs1439864085
|
0.00001
|
|
NM_012082.4(ZFPM2):c.740-19C>T
|
rs751110244
|
0.00001
|
|
NM_012082.4(ZFPM2):c.822T>C (p.Ser274=)
|
rs777185799
|
0.00001
|
|
NM_012082.4(ZFPM2):c.846G>A (p.Pro282=)
|
rs916094617
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1263C>T (p.His421=)
|
rs140907744
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1272G>A (p.Arg424=)
|
rs774491415
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1278A>G (p.Val426=)
|
rs143981286
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1375-10A>G
|
rs371356128
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1375-15T>A
|
rs368074391
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1461G>A (p.Glu487=)
|
rs779637505
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1509T>C (p.Ile503=)
|
rs375080368
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1531+9T>G
|
rs746503264
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1532-12A>G
|
rs1421217417
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1566C>T (p.Ile522=)
|
rs2092818980
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1794G>A (p.Leu598=)
|
rs1302194870
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1962A>G (p.Glu654=)
|
rs750151799
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1978-11A>G
|
rs369905481
|
0.00001
|
|
NM_013266.4(CTNNA3):c.2025G>A (p.Glu675=)
|
rs940633257
|
0.00001
|
|
NM_013266.4(CTNNA3):c.2058G>A (p.Lys686=)
|
rs745562600
|
0.00001
|
|
NM_013266.4(CTNNA3):c.2061G>A (p.Leu687=)
|
rs1380267136
|
0.00001
|
|
NM_013266.4(CTNNA3):c.2205G>A (p.Ala735=)
|
rs745959148
|
0.00001
|
|
NM_013266.4(CTNNA3):c.2217A>T (p.Ser739=)
|
rs778040551
|
0.00001
|
|
NM_013266.4(CTNNA3):c.2349T>C (p.Ser783=)
|
rs769069364
|
0.00001
|
|
NM_013266.4(CTNNA3):c.2523C>T (p.Pro841=)
|
rs769407192
|
0.00001
|
|
NM_013266.4(CTNNA3):c.2562A>G (p.Ala854=)
|
rs752661010
|
0.00001
|
|
NM_013266.4(CTNNA3):c.417G>A (p.Ala139=)
|
rs1204895034
|
0.00001
|
|
NM_013266.4(CTNNA3):c.480T>C (p.Ser160=)
|
rs766602512
|
0.00001
|
|
NM_013266.4(CTNNA3):c.843+8G>A
|
rs755796270
|
0.00001
|
|
NM_013266.4(CTNNA3):c.849A>G (p.Leu283=)
|
rs762976031
|
0.00001
|
|
NM_013266.4(CTNNA3):c.898C>T (p.Leu300=)
|
rs1862478317
|
0.00001
|
|
NM_014000.3(VCL):c.1022+17C>T
|
rs767059397
|
0.00001
|
|
NM_014000.3(VCL):c.1177-18C>T
|
rs1336724326
|
0.00001
|
|
NM_014000.3(VCL):c.1177-6G>C
|
rs768166870
|
0.00001
|
|
NM_014000.3(VCL):c.1194A>C (p.Pro398=)
|
rs1839853069
|
0.00001
|
|
NM_014000.3(VCL):c.1347A>G (p.Arg449=)
|
rs781535174
|
0.00001
|
|
NM_014000.3(VCL):c.1389C>T (p.Ala463=)
|
rs777352656
|
0.00001
|
|
NM_014000.3(VCL):c.1458G>A (p.Pro486=)
|
rs767968937
|
0.00001
|
|
NM_014000.3(VCL):c.1497A>G (p.Gln499=)
|
rs986960406
|
0.00001
|
|
NM_014000.3(VCL):c.1543+15G>A
|
rs759560099
|
0.00001
|
|
NM_014000.3(VCL):c.1543+8C>G
|
rs886047218
|
0.00001
|
|
NM_014000.3(VCL):c.1563G>C (p.Gly521=)
|
rs747932867
|
0.00001
|
|
NM_014000.3(VCL):c.169-20G>C
|
rs1309271037
|
0.00001
|
|
NM_014000.3(VCL):c.1767G>A (p.Glu589=)
|
rs878854971
|
0.00001
|
|
NM_014000.3(VCL):c.1797C>T (p.Phe599=)
|
rs1433225982
|
0.00001
|
|
NM_014000.3(VCL):c.1845G>A (p.Ala615=)
|
rs749812890
|
0.00001
|
|
NM_014000.3(VCL):c.1932C>T (p.Ala644=)
|
rs762594014
|
0.00001
|
|
NM_014000.3(VCL):c.1941G>A (p.Ala647=)
|
rs1840045095
|
0.00001
|
|
NM_014000.3(VCL):c.1947G>A (p.Ala649=)
|
rs200168992
|
0.00001
|
|
NM_014000.3(VCL):c.2001G>A (p.Thr667=)
|
rs747424067
|
0.00001
|
|
NM_014000.3(VCL):c.2019C>T (p.Pro673=)
|
rs1591709995
|
0.00001
|
|
NM_014000.3(VCL):c.2022+18C>T
|
rs762939357
|
0.00001
|
|
NM_014000.3(VCL):c.2292G>A (p.Leu764=)
|
rs1840112461
|
0.00001
|
|
NM_014000.3(VCL):c.2322C>T (p.Ser774=)
|
rs202184524
|
0.00001
|
|
NM_014000.3(VCL):c.2368T>C (p.Leu790=)
|
rs780172945
|
0.00001
|
|
NM_014000.3(VCL):c.239+11G>A
|
rs918332199
|
0.00001
|
|
NM_014000.3(VCL):c.240-4A>G
|
rs769989314
|
0.00001
|
|
NM_014000.3(VCL):c.2454G>A (p.Leu818=)
|
rs781226887
|
0.00001
|
|
NM_014000.3(VCL):c.2490G>A (p.Lys830=)
|
rs1158015710
|
0.00001
|
|
NM_014000.3(VCL):c.2520T>G (p.Pro840=)
|
rs777218777
|
0.00001
|
|
NM_014000.3(VCL):c.2532G>A (p.Pro844=)
|
rs1428239005
|
0.00001
|
|
NM_014000.3(VCL):c.2601A>G (p.Glu867=)
|
rs764067327
|
0.00001
|
|
NM_014000.3(VCL):c.2745+20T>C
|
rs1164412227
|
0.00001
|
|
NM_014000.3(VCL):c.2760C>T (p.Ala920=)
|
rs138594604
|
0.00001
|
|
NM_014000.3(VCL):c.2841C>T (p.Asp947=)
|
rs566296495
|
0.00001
|
|
NM_014000.3(VCL):c.285T>C (p.Leu95=)
|
rs1437017796
|
0.00001
|
|
NM_014000.3(VCL):c.2883G>A (p.Pro961=)
|
rs747640704
|
0.00001
|
|
NM_014000.3(VCL):c.2904C>T (p.Ala968=)
|
rs558112511
|
0.00001
|
|
NM_014000.3(VCL):c.2950-14T>C
|
rs1364192125
|
0.00001
|
|
NM_014000.3(VCL):c.3033C>T (p.Thr1011=)
|
rs537877002
|
0.00001
|
|
NM_014000.3(VCL):c.3051G>A (p.Gln1017=)
|
rs756849548
|
0.00001
|
|
NM_014000.3(VCL):c.3154-6C>T
|
rs371257509
|
0.00001
|
|
NM_014000.3(VCL):c.3154-8C>G
|
rs376690719
|
0.00001
|
|
NM_014000.3(VCL):c.3186G>A (p.Gln1062=)
|
rs761534024
|
0.00001
|
|
NM_014000.3(VCL):c.3189C>T (p.Leu1063=)
|
rs765020779
|
0.00001
|
|
NM_014000.3(VCL):c.3228G>C (p.Arg1076=)
|
rs1331829991
|
0.00001
|
|
NM_014000.3(VCL):c.3237C>T (p.Ile1079=)
|
rs201526599
|
0.00001
|
|
NM_014000.3(VCL):c.3259-5T>C
|
rs1057523095
|
0.00001
|
|
NM_014000.3(VCL):c.3339A>C (p.Ser1113=)
|
rs1060504504
|
0.00001
|
|
NM_014000.3(VCL):c.3363A>C (p.Gly1121=)
|
rs771949807
|
0.00001
|
|
NM_014000.3(VCL):c.3381T>C (p.Val1127=)
|
rs943734765
|
0.00001
|
|
NM_014000.3(VCL):c.3393C>T (p.Pro1131=)
|
rs760396103
|
0.00001
|
|
NM_014000.3(VCL):c.36C>T (p.Ile12=)
|
rs774195260
|
0.00001
|
|
NM_014000.3(VCL):c.384G>A (p.Glu128=)
|
rs756746383
|
0.00001
|
|
NM_014000.3(VCL):c.424T>C (p.Leu142=)
|
rs762497815
|
0.00001
|
|
NM_014000.3(VCL):c.558G>A (p.Glu186=)
|
rs1456753342
|
0.00001
|
|
NM_014000.3(VCL):c.591C>T (p.Thr197=)
|
rs199960157
|
0.00001
|
|
NM_014000.3(VCL):c.622+18T>C
|
rs1218431325
|
0.00001
|
|
NM_014000.3(VCL):c.623-11T>C
|
rs1209932482
|
0.00001
|
|
NM_014000.3(VCL):c.636T>C (p.Phe212=)
|
rs767648679
|
0.00001
|
|
NM_014000.3(VCL):c.6A>C (p.Pro2=)
|
rs753870747
|
0.00001
|
|
NM_014000.3(VCL):c.723T>C (p.Ile241=)
|
rs771420978
|
0.00001
|
|
NM_014000.3(VCL):c.780C>T (p.Ser260=)
|
rs774377548
|
0.00001
|
|
NM_014000.3(VCL):c.804A>G (p.Arg268=)
|
rs556334319
|
0.00001
|
|
NM_014000.3(VCL):c.874+13T>C
|
rs777617736
|
0.00001
|
|
NM_014000.3(VCL):c.874+7C>G
|
rs727503737
|
0.00001
|
|
NM_014476.6(PDLIM3):c.1071G>A (p.Thr357=)
|
rs772388695
|
0.00001
|
|
NM_014476.6(PDLIM3):c.159C>T (p.Asp53=)
|
rs781147581
|
0.00001
|
|
NM_014476.6(PDLIM3):c.258C>T (p.His86=)
|
rs1189554604
|
0.00001
|
|
NM_014476.6(PDLIM3):c.398+9C>T
|
rs761820729
|
0.00001
|
|
NM_014476.6(PDLIM3):c.408C>T (p.Ser136=)
|
rs764271627
|
0.00001
|
|
NM_014476.6(PDLIM3):c.567G>A (p.Gln189=)
|
rs776361335
|
0.00001
|
|
NM_014476.6(PDLIM3):c.662+7T>C
|
rs1580239101
|
0.00001
|
|
NM_014476.6(PDLIM3):c.66C>T (p.Asp22=)
|
rs770008147
|
0.00001
|
|
NM_014476.6(PDLIM3):c.687C>T (p.Pro229=)
|
rs753543916
|
0.00001
|
|
NM_014476.6(PDLIM3):c.711C>G (p.Leu237=)
|
rs1280400272
|
0.00001
|
|
NM_014476.6(PDLIM3):c.783C>T (p.Asp261=)
|
rs201775052
|
0.00001
|
|
NM_014476.6(PDLIM3):c.879C>T (p.Leu293=)
|
rs766386102
|
0.00001
|
|
NM_014476.6(PDLIM3):c.894G>C (p.Gly298=)
|
rs951740054
|
0.00001
|
|
NM_014476.6(PDLIM3):c.905+10A>G
|
rs1250327271
|
0.00001
|
|
NM_014476.6(PDLIM3):c.924G>A (p.Ala308=)
|
rs558471910
|
0.00001
|
|
NM_014908.4(DOLK):c.1068G>A (p.Arg356=)
|
rs371490482
|
0.00001
|
|
NM_014908.4(DOLK):c.1092T>G (p.Thr364=)
|
rs1280785615
|
0.00001
|
|
NM_014908.4(DOLK):c.1098C>T (p.Cys366=)
|
rs1588262054
|
0.00001
|
|
NM_014908.4(DOLK):c.1107C>T (p.Val369=)
|
rs759148554
|
0.00001
|
|
NM_014908.4(DOLK):c.1143C>T (p.Ile381=)
|
rs750733060
|
0.00001
|
|
NM_014908.4(DOLK):c.1167G>C (p.Arg389=)
|
rs1475563721
|
0.00001
|
|
NM_014908.4(DOLK):c.1176G>A (p.Leu392=)
|
rs1229430506
|
0.00001
|
|
NM_014908.4(DOLK):c.1434A>G (p.Thr478=)
|
rs536315251
|
0.00001
|
|
NM_014908.4(DOLK):c.1467G>T (p.Leu489=)
|
rs955285603
|
0.00001
|
|
NM_014908.4(DOLK):c.184C>A (p.Arg62=)
|
rs533764998
|
0.00001
|
|
NM_014908.4(DOLK):c.24G>A (p.Pro8=)
|
rs746403097
|
0.00001
|
|
NM_014908.4(DOLK):c.288G>A (p.Lys96=)
|
rs771259120
|
0.00001
|
|
NM_014908.4(DOLK):c.453C>T (p.Ile151=)
|
rs1249767230
|
0.00001
|
|
NM_014908.4(DOLK):c.48G>C (p.Leu16=)
|
rs1841690217
|
0.00001
|
|
NM_014908.4(DOLK):c.501C>T (p.Val167=)
|
rs372024402
|
0.00001
|
|
NM_014908.4(DOLK):c.679C>T (p.Leu227=)
|
rs751806411
|
0.00001
|
|
NM_014908.4(DOLK):c.843G>A (p.Arg281=)
|
rs1430371382
|
0.00001
|
|
NM_014908.4(DOLK):c.888C>G (p.Thr296=)
|
rs1841669182
|
0.00001
|
|
NM_014908.4(DOLK):c.894C>T (p.Ile298=)
|
rs554098531
|
0.00001
|
|
NM_014908.4(DOLK):c.906C>T (p.Ala302=)
|
rs745571625
|
0.00001
|
|
NM_014908.4(DOLK):c.909T>C (p.Tyr303=)
|
rs1244007975
|
0.00001
|
|
NM_014908.4(DOLK):c.90G>A (p.Val30=)
|
rs766960135
|
0.00001
|
|
NM_014908.4(DOLK):c.916C>T (p.Leu306=)
|
rs1290357070
|
0.00001
|
|
NM_014908.4(DOLK):c.94C>T (p.Leu32=)
|
rs760999273
|
0.00001
|
|
NM_014908.4(DOLK):c.999C>T (p.Pro333=)
|
rs764117689
|
0.00001
|
|
NM_015374.3(SUN2):c.1023T>C (p.Ala341=)
|
rs762795807
|
0.00001
|
|
NM_015374.3(SUN2):c.1047G>A (p.Arg349=)
|
rs768221118
|
0.00001
|
|
NM_015374.3(SUN2):c.1173G>C (p.Leu391=)
|
rs771977029
|
0.00001
|
|
NM_015374.3(SUN2):c.1299C>T (p.Ser433=)
|
rs1442161052
|
0.00001
|
|
NM_015374.3(SUN2):c.1359G>A (p.Val453=)
|
rs745348691
|
0.00001
|
|
NM_015374.3(SUN2):c.1422G>C (p.Gly474=)
|
rs1603217338
|
0.00001
|
|
NM_015374.3(SUN2):c.1509G>A (p.Ser503=)
|
rs767238921
|
0.00001
|
|
NM_015374.3(SUN2):c.1869C>T (p.Ala623=)
|
rs762930089
|
0.00001
|
|
NM_015374.3(SUN2):c.1920C>T (p.Ser640=)
|
rs779490476
|
0.00001
|
|
NM_015374.3(SUN2):c.231G>A (p.Glu77=)
|
rs760297349
|
0.00001
|
|
NM_015374.3(SUN2):c.342G>A (p.Arg114=)
|
rs773389007
|
0.00001
|
|
NM_015374.3(SUN2):c.357G>A (p.Val119=)
|
rs1603229883
|
0.00001
|
|
NM_015374.3(SUN2):c.425-12C>T
|
rs773495171
|
0.00001
|
|
NM_015374.3(SUN2):c.474C>T (p.Ala158=)
|
rs1211809169
|
0.00001
|
|
NM_015374.3(SUN2):c.57C>T (p.Ser19=)
|
rs374169188
|
0.00001
|
|
NM_015374.3(SUN2):c.603C>T (p.Phe201=)
|
rs1048872109
|
0.00001
|
|
NM_015374.3(SUN2):c.828T>C (p.Val276=)
|
rs758769460
|
0.00001
|
|
NM_015374.3(SUN2):c.885C>T (p.Ser295=)
|
rs537062653
|
0.00001
|
|
NM_015374.3(SUN2):c.996G>A (p.Leu332=)
|
rs1228066052
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1005+11C>T
|
rs776445450
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1020A>G (p.Glu340=)
|
rs770773856
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1052-12C>A
|
rs957043389
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1071A>T (p.Thr357=)
|
rs397517260
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1106+17T>C
|
rs769793016
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1116T>C (p.Asp372=)
|
rs1359495243
|
0.00001
|
|
NM_016203.4(PRKAG2):c.114+20C>T
|
rs113978561
|
0.00001
|
|
NM_016203.4(PRKAG2):c.117C>T (p.Asp39=)
|
rs1220899353
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1191T>C (p.Tyr397=)
|
rs749218393
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1200C>T (p.Thr400=)
|
rs779897567
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1233+15G>A
|
rs756832099
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1233+9T>C
|
rs780770792
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1234-7C>T
|
rs1456377814
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1254T>C (p.Pro418=)
|
rs753059650
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1371A>T (p.Ile457=)
|
rs755421350
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1389G>C (p.Val463=)
|
rs754270654
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1400-8A>G
|
rs1488159582
|
0.00001
|
|
NM_016203.4(PRKAG2):c.141C>T (p.Leu47=)
|
rs1244792476
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1422C>T (p.Ser474=)
|
rs1584941245
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1438-20A>G
|
rs146491414
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1438-5T>C
|
rs190863830
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1440T>C (p.Asn480=)
|
rs397517265
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1479G>A (p.Thr493=)
|
rs367768776
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1620T>C (p.Ser540=)
|
rs1196648905
|
0.00001
|
|
NM_016203.4(PRKAG2):c.186+12T>C
|
rs374155169
|
0.00001
|
|
NM_016203.4(PRKAG2):c.186+7C>T
|
rs886062102
|
0.00001
|
|
NM_016203.4(PRKAG2):c.202G>A (p.Gly68Ser)
|
rs730880970
|
0.00001
|
|
NM_016203.4(PRKAG2):c.210C>A (p.Gly70=)
|
rs1421160665
|
0.00001
|
|
NM_016203.4(PRKAG2):c.222A>G (p.Lys74=)
|
rs1265668637
|
0.00001
|
|
NM_016203.4(PRKAG2):c.246G>T (p.Gln82His)
|
rs1182448951
|
0.00001
|
|
NM_016203.4(PRKAG2):c.253C>T (p.Pro85Ser)
|
rs754570613
|
0.00001
|
|
NM_016203.4(PRKAG2):c.331C>A (p.Gln111Lys)
|
rs778331706
|
0.00001
|
|
NM_016203.4(PRKAG2):c.347G>T (p.Arg116Leu)
|
rs369471907
|
0.00001
|
|
NM_016203.4(PRKAG2):c.38A>G (p.Asp13Gly)
|
rs768453540
|
0.00001
|
|
NM_016203.4(PRKAG2):c.390C>G (p.Ser130=)
|
rs1400706351
|
0.00001
|
|
NM_016203.4(PRKAG2):c.393C>T (p.Ser131=)
|
rs1057520352
|
0.00001
|
|
NM_016203.4(PRKAG2):c.406C>G (p.Pro136Ala)
|
rs1386603764
|
0.00001
|
|
NM_016203.4(PRKAG2):c.410A>G (p.Asn137Ser)
|
rs869025498
|
0.00001
|
|
NM_016203.4(PRKAG2):c.42T>A (p.Val14=)
|
rs141316327
|
0.00001
|
|
NM_016203.4(PRKAG2):c.466+17A>G
|
rs770673359
|
0.00001
|
|
NM_016203.4(PRKAG2):c.466+19T>C
|
rs376621063
|
0.00001
|
|
NM_016203.4(PRKAG2):c.466+7C>A
|
rs397517272
|
0.00001
|
|
NM_016203.4(PRKAG2):c.467-15G>A
|
rs139162723
|
0.00001
|
|
NM_016203.4(PRKAG2):c.522G>A (p.Thr174=)
|
rs558951955
|
0.00001
|
|
NM_016203.4(PRKAG2):c.546C>T (p.His182=)
|
rs1221506447
|
0.00001
|
|
NM_016203.4(PRKAG2):c.556C>A (p.Arg186=)
|
rs200392688
|
0.00001
|
|
NM_016203.4(PRKAG2):c.570C>T (p.Arg190=)
|
rs141191531
|
0.00001
|
|
NM_016203.4(PRKAG2):c.582G>A (p.Ser194=)
|
rs756215060
|
0.00001
|
|
NM_016203.4(PRKAG2):c.585T>A (p.Ser195=)
|
rs781522393
|
0.00001
|
|
NM_016203.4(PRKAG2):c.592C>T (p.Pro198Ser)
|
rs753859556
|
0.00001
|
|
NM_016203.4(PRKAG2):c.632G>A (p.Ser211Asn)
|
rs768909087
|
0.00001
|
|
NM_016203.4(PRKAG2):c.636G>A (p.Pro212=)
|
rs149820808
|
0.00001
|
|
NM_016203.4(PRKAG2):c.640A>G (p.Arg214Gly)
|
rs730880987
|
0.00001
|
|
NM_016203.4(PRKAG2):c.648A>G (p.Pro216=)
|
rs751742816
|
0.00001
|
|
NM_016203.4(PRKAG2):c.660G>A (p.Pro220=)
|
rs774279454
|
0.00001
|
|
NM_016203.4(PRKAG2):c.685-12C>T
|
rs1824697718
|
0.00001
|
|
NM_016203.4(PRKAG2):c.685-7C>A
|
rs397517278
|
0.00001
|
|
NM_016203.4(PRKAG2):c.703C>T (p.Leu235=)
|
rs1476121151
|
0.00001
|
|
NM_016203.4(PRKAG2):c.713C>T (p.Ala238Val)
|
rs1184637689
|
0.00001
|
|
NM_016203.4(PRKAG2):c.732G>A (p.Glu244=)
|
rs777165701
|
0.00001
|
|
NM_016203.4(PRKAG2):c.754+14G>T
|
rs1554507743
|
0.00001
|
|
NM_016203.4(PRKAG2):c.755-13T>G
|
rs1219696291
|
0.00001
|
|
NM_016203.4(PRKAG2):c.774T>C (p.Ser258=)
|
rs1458710152
|
0.00001
|
|
NM_016203.4(PRKAG2):c.804C>T (p.His268=)
|
rs1814239943
|
0.00001
|
|
NM_016203.4(PRKAG2):c.820G>A (p.Val274Ile)
|
rs917493455
|
0.00001
|
|
NM_016203.4(PRKAG2):c.866T>C (p.Val289Ala)
|
rs730880975
|
0.00001
|
|
NM_016203.4(PRKAG2):c.88A>C (p.Arg30=)
|
rs756923555
|
0.00001
|
|
NM_016203.4(PRKAG2):c.897C>T (p.Asn299=)
|
rs201876556
|
0.00001
|
|
NM_016203.4(PRKAG2):c.946+19A>G
|
rs745525434
|
0.00001
|
|
NM_016203.4(PRKAG2):c.99G>A (p.Leu33=)
|
rs1039938289
|
0.00001
|
|
NM_016599.5(MYOZ2):c.123C>T (p.Asp41=)
|
rs753422262
|
0.00001
|
|
NM_016599.5(MYOZ2):c.207A>C (p.Thr69=)
|
rs774782954
|
0.00001
|
|
NM_016599.5(MYOZ2):c.309A>G (p.Gln103=)
|
rs1051191303
|
0.00001
|
|
NM_016599.5(MYOZ2):c.330C>T (p.Asn110=)
|
rs370237979
|
0.00001
|
|
NM_016599.5(MYOZ2):c.333C>T (p.Thr111=)
|
rs1553958625
|
0.00001
|
|
NM_016599.5(MYOZ2):c.391C>T (p.Leu131=)
|
rs1553959019
|
0.00001
|
|
NM_016599.5(MYOZ2):c.480G>A (p.Pro160=)
|
rs779726933
|
0.00001
|
|
NM_016599.5(MYOZ2):c.561-20T>C
|
rs771164968
|
0.00001
|
|
NM_016599.5(MYOZ2):c.561-6C>T
|
rs745918436
|
0.00001
|
|
NM_020297.4(ABCC9):c.1050C>T (p.Asn350=)
|
rs143373045
|
0.00001
|
|
NM_020297.4(ABCC9):c.1092G>T (p.Leu364=)
|
rs1207888326
|
0.00001
|
|
NM_020297.4(ABCC9):c.1165-20C>A
|
rs776132916
|
0.00001
|
|
NM_020297.4(ABCC9):c.1251C>T (p.Val417=)
|
rs746029351
|
0.00001
|
|
NM_020297.4(ABCC9):c.142+17C>G
|
rs377317245
|
0.00001
|
|
NM_020297.4(ABCC9):c.1425A>G (p.Thr475=)
|
rs772284924
|
0.00001
|
|
NM_020297.4(ABCC9):c.143-6T>C
|
rs758760088
|
0.00001
|
|
NM_020297.4(ABCC9):c.1619-10C>A
|
rs1169346732
|
0.00001
|
|
NM_020297.4(ABCC9):c.1619-14A>C
|
rs762754866
|
0.00001
|
|
NM_020297.4(ABCC9):c.1659+10T>C
|
rs201753781
|
0.00001
|
|
NM_020297.4(ABCC9):c.1671C>A (p.Thr557=)
|
rs746467455
|
0.00001
|
|
NM_020297.4(ABCC9):c.1770G>A (p.Thr590=)
|
rs746239063
|
0.00001
|
|
NM_020297.4(ABCC9):c.1788C>T (p.Val596=)
|
rs1006327852
|
0.00001
|
|
NM_020297.4(ABCC9):c.1875G>A (p.Ser625=)
|
rs727502873
|
0.00001
|
|
NM_020297.4(ABCC9):c.2081G>A (p.Arg694Gln)
|
rs267603424
|
0.00001
|
|
NM_020297.4(ABCC9):c.2093-19C>T
|
rs766069020
|
0.00001
|
|
NM_020297.4(ABCC9):c.2112G>C (p.Val704=)
|
rs756409292
|
0.00001
|
|
NM_020297.4(ABCC9):c.2199-17G>C
|
rs191677545
|
0.00001
|
|
NM_020297.4(ABCC9):c.2199-6T>C
|
rs535477725
|
0.00001
|
|
NM_020297.4(ABCC9):c.2199-9T>A
|
rs1299208660
|
0.00001
|
|
NM_020297.4(ABCC9):c.2340-4A>G
|
rs1477417208
|
0.00001
|
|
NM_020297.4(ABCC9):c.2346A>G (p.Lys782=)
|
rs1461947954
|
0.00001
|
|
NM_020297.4(ABCC9):c.2424+10A>G
|
rs770053314
|
0.00001
|
|
NM_020297.4(ABCC9):c.2425-13G>A
|
rs397517188
|
0.00001
|
|
NM_020297.4(ABCC9):c.2505+8T>C
|
rs762638662
|
0.00001
|
|
NM_020297.4(ABCC9):c.2547T>C (p.His849=)
|
rs876657428
|
0.00001
|
|
NM_020297.4(ABCC9):c.2571A>G (p.Lys857=)
|
rs762350069
|
0.00001
|
|
NM_020297.4(ABCC9):c.2574C>T (p.Phe858=)
|
rs1273498300
|
0.00001
|
|
NM_020297.4(ABCC9):c.2613C>T (p.His871=)
|
rs373909378
|
0.00001
|
|
NM_020297.4(ABCC9):c.2625T>C (p.Tyr875=)
|
rs1471028467
|
0.00001
|
|
NM_020297.4(ABCC9):c.2644-12C>T
|
rs531565271
|
0.00001
|
|
NM_020297.4(ABCC9):c.2703C>T (p.Thr901=)
|
rs1000035870
|
0.00001
|
|
NM_020297.4(ABCC9):c.2886T>C (p.Asp962=)
|
rs780676951
|
0.00001
|
|
NM_020297.4(ABCC9):c.2952C>T (p.Arg984=)
|
rs1283675593
|
0.00001
|
|
NM_020297.4(ABCC9):c.3007T>C (p.Leu1003=)
|
rs138700703
|
0.00001
|
|
NM_020297.4(ABCC9):c.3051A>G (p.Thr1017=)
|
rs1290109600
|
0.00001
|
|
NM_020297.4(ABCC9):c.306C>T (p.Leu102=)
|
rs994917919
|
0.00001
|
|
NM_020297.4(ABCC9):c.3097-12G>C
|
rs1223511822
|
0.00001
|
|
NM_020297.4(ABCC9):c.3138C>A (p.Gly1046=)
|
rs936939979
|
0.00001
|
|
NM_020297.4(ABCC9):c.3237A>G (p.Gly1079=)
|
rs554189538
|
0.00001
|
|
NM_020297.4(ABCC9):c.3245+8del
|
rs750838269
|
0.00001
|
|
NM_020297.4(ABCC9):c.324C>T (p.Ala108=)
|
rs770552940
|
0.00001
|
|
NM_020297.4(ABCC9):c.3273G>C (p.Leu1091=)
|
rs144325590
|
0.00001
|
|
NM_020297.4(ABCC9):c.3364C>T (p.Leu1122=)
|
rs765467874
|
0.00001
|
|
NM_020297.4(ABCC9):c.3432T>C (p.Val1144=)
|
rs746911808
|
0.00001
|
|
NM_020297.4(ABCC9):c.345T>C (p.Thr115=)
|
rs1949029897
|
0.00001
|
|
NM_020297.4(ABCC9):c.3477C>T (p.Asp1159=)
|
rs1269987186
|
0.00001
|
|
NM_020297.4(ABCC9):c.3645C>T (p.Ala1215=)
|
rs188944145
|
0.00001
|
|
NM_020297.4(ABCC9):c.3669+10T>C
|
rs199640712
|
0.00001
|
|
NM_020297.4(ABCC9):c.3676C>T (p.Leu1226=)
|
rs749797034
|
0.00001
|
|
NM_020297.4(ABCC9):c.3739T>C (p.Leu1247=)
|
rs1057522334
|
0.00001
|
|
NM_020297.4(ABCC9):c.3771+8T>C
|
rs371288129
|
0.00001
|
|
NM_020297.4(ABCC9):c.3772-10C>T
|
rs1315658031
|
0.00001
|
|
NM_020297.4(ABCC9):c.3772-16T>C
|
rs745509782
|
0.00001
|
|
NM_020297.4(ABCC9):c.3831T>A (p.Gly1277=)
|
rs760351484
|
0.00001
|
|
NM_020297.4(ABCC9):c.3915T>C (p.His1305=)
|
rs1005409097
|
0.00001
|
|
NM_020297.4(ABCC9):c.3948T>C (p.Asp1316=)
|
rs368875701
|
0.00001
|
|
NM_020297.4(ABCC9):c.3972T>C (p.Asn1324=)
|
rs1010919682
|
0.00001
|
|
NM_020297.4(ABCC9):c.3990G>A (p.Lys1330=)
|
rs1230456935
|
0.00001
|
|
NM_020297.4(ABCC9):c.4024-17G>A
|
rs796151820
|
0.00001
|
|
NM_020297.4(ABCC9):c.406+7A>G
|
rs1340258942
|
0.00001
|
|
NM_020297.4(ABCC9):c.4103-14T>C
|
rs1462468885
|
0.00001
|
|
NM_020297.4(ABCC9):c.4103-15del
|
rs752897619
|
0.00001
|
|
NM_020297.4(ABCC9):c.4116T>C (p.Ile1372=)
|
rs1264106509
|
0.00001
|
|
NM_020297.4(ABCC9):c.4144C>T (p.Leu1382=)
|
rs756571598
|
0.00001
|
|
NM_020297.4(ABCC9):c.4177C>T (p.Leu1393=)
|
rs776379902
|
0.00001
|
|
NM_020297.4(ABCC9):c.4245T>C (p.Asp1415=)
|
rs1276037232
|
0.00001
|
|
NM_020297.4(ABCC9):c.4315+20T>C
|
rs778264443
|
0.00001
|
|
NM_020297.4(ABCC9):c.4316-11C>A
|
rs750331807
|
0.00001
|
|
NM_020297.4(ABCC9):c.4320G>A (p.Ala1440=)
|
rs377289768
|
0.00001
|
|
NM_020297.4(ABCC9):c.4353T>C (p.Val1451=)
|
rs771226136
|
0.00001
|
|
NM_020297.4(ABCC9):c.4365G>A (p.Gln1455=)
|
rs727504785
|
0.00001
|
|
NM_020297.4(ABCC9):c.4371T>C (p.Phe1457=)
|
rs1180161734
|
0.00001
|
|
NM_020297.4(ABCC9):c.4389T>C (p.Phe1463=)
|
rs530506599
|
0.00001
|
|
NM_020297.4(ABCC9):c.4392C>G (p.Val1464=)
|
rs371653292
|
0.00001
|
|
NM_020297.4(ABCC9):c.4450-6T>C
|
rs746141453
|
0.00001
|
|
NM_020297.4(ABCC9):c.447A>C (p.Thr149=)
|
rs1249017557
|
0.00001
|
|
NM_020297.4(ABCC9):c.4512+710T>C
|
rs887374001
|
0.00001
|
|
NM_020297.4(ABCC9):c.4512+771T>C
|
rs1486807971
|
0.00001
|
|
NM_020297.4(ABCC9):c.573+19T>C
|
rs1555116939
|
0.00001
|
|
NM_020297.4(ABCC9):c.816+8A>G
|
rs775621943
|
0.00001
|
|
NM_020297.4(ABCC9):c.817-18T>C
|
rs764209653
|
0.00001
|
|
NM_020297.4(ABCC9):c.900T>C (p.Ser300=)
|
rs759869766
|
0.00001
|
|
NM_020297.4(ABCC9):c.927A>G (p.Leu309=)
|
rs548380877
|
0.00001
|
|
NM_020297.4(ABCC9):c.93G>T (p.Leu31=)
|
rs1317776694
|
0.00001
|
|
NM_020297.4(ABCC9):c.957T>C (p.Ser319=)
|
rs768245158
|
0.00001
|
|
NM_020297.4(ABCC9):c.993G>A (p.Gly331=)
|
rs1391213969
|
0.00001
|
|
NM_020433.5(JPH2):c.1041C>A (p.Val347=)
|
rs1035583608
|
0.00001
|
|
NM_020433.5(JPH2):c.1155G>A (p.Glu385=)
|
rs756604823
|
0.00001
|
|
NM_020433.5(JPH2):c.1203G>A (p.Ala401=)
|
rs138017620
|
0.00001
|
|
NM_020433.5(JPH2):c.1251T>G (p.Thr417=)
|
rs1336473590
|
0.00001
|
|
NM_020433.5(JPH2):c.1289-8C>T
|
rs1487982810
|
0.00001
|
|
NM_020433.5(JPH2):c.1293G>A (p.Pro431=)
|
rs2072193158
|
0.00001
|
|
NM_020433.5(JPH2):c.1317G>A (p.Leu439=)
|
rs1339404249
|
0.00001
|
|
NM_020433.5(JPH2):c.1461G>A (p.Pro487=)
|
rs781613132
|
0.00001
|
|
NM_020433.5(JPH2):c.1551C>T (p.Ser517=)
|
rs1295638660
|
0.00001
|
|
NM_020433.5(JPH2):c.1659G>A (p.Ala553=)
|
rs749392070
|
0.00001
|
|
NM_020433.5(JPH2):c.1662G>A (p.Pro554=)
|
rs748323930
|
0.00001
|
|
NM_020433.5(JPH2):c.1671G>A (p.Glu557=)
|
rs754665306
|
0.00001
|
|
NM_020433.5(JPH2):c.168C>T (p.Ser56=)
|
rs748126772
|
0.00001
|
|
NM_020433.5(JPH2):c.1722G>A (p.Thr574=)
|
rs769828263
|
0.00001
|
|
NM_020433.5(JPH2):c.1740C>A (p.Pro580=)
|
rs779868269
|
0.00001
|
|
NM_020433.5(JPH2):c.1758G>A (p.Glu586=)
|
rs753383507
|
0.00001
|
|
NM_020433.5(JPH2):c.1770C>T (p.Ser590=)
|
rs755757325
|
0.00001
|
|
NM_020433.5(JPH2):c.1788C>T (p.Pro596=)
|
rs760929264
|
0.00001
|
|
NM_020433.5(JPH2):c.1803C>T (p.Thr601=)
|
rs1060503799
|
0.00001
|
|
NM_020433.5(JPH2):c.252C>T (p.Gly84=)
|
rs763286384
|
0.00001
|
|
NM_020433.5(JPH2):c.379+19C>T
|
rs776341751
|
0.00001
|
|
NM_020433.5(JPH2):c.45C>T (p.Cys15=)
|
rs748073251
|
0.00001
|
|
NM_020433.5(JPH2):c.543C>T (p.Ala181=)
|
rs2072600286
|
0.00001
|
|
NM_020433.5(JPH2):c.678G>C (p.Leu226=)
|
rs1414276112
|
0.00001
|
|
NM_020433.5(JPH2):c.696C>T (p.Arg232=)
|
rs1419966903
|
0.00001
|
|
NM_020433.5(JPH2):c.714C>G (p.Ser238=)
|
rs772581238
|
0.00001
|
|
NM_020433.5(JPH2):c.72T>C (p.His24=)
|
rs754405775
|
0.00001
|
|
NM_020433.5(JPH2):c.810C>A (p.Ala270=)
|
rs779680763
|
0.00001
|
|
NM_020433.5(JPH2):c.837C>T (p.Phe279=)
|
rs773521151
|
0.00001
|
|
NM_020433.5(JPH2):c.915G>A (p.Val305=)
|
rs952136880
|
0.00001
|
|
NM_020433.5(JPH2):c.978T>C (p.Tyr326=)
|
rs777461348
|
0.00001
|
|
NM_021044.4(DHH):c.174C>A (p.Gly58=)
|
rs376829299
|
0.00001
|
|
NM_021167.5(GATAD1):c.171C>T (p.Gly57=)
|
rs1044918371
|
0.00001
|
|
NM_021167.5(GATAD1):c.192C>T (p.Thr64=)
|
rs1176944795
|
0.00001
|
|
NM_021167.5(GATAD1):c.250-14T>G
|
rs569720137
|
0.00001
|
|
NM_021167.5(GATAD1):c.285C>T (p.Leu95=)
|
rs371500622
|
0.00001
|
|
NM_021167.5(GATAD1):c.367T>C (p.Leu123=)
|
rs146142781
|
0.00001
|
|
NM_021167.5(GATAD1):c.468T>C (p.Ser156=)
|
rs781323574
|
0.00001
|
|
NM_021167.5(GATAD1):c.507A>G (p.Gln169=)
|
rs775915716
|
0.00001
|
|
NM_021167.5(GATAD1):c.774A>G (p.Ala258=)
|
rs775303568
|
0.00001
|
|
NM_021167.5(GATAD1):c.87C>T (p.Leu29=)
|
rs976516793
|
0.00001
|
|
NM_022114.4(PRDM16):c.1032+12G>A
|
rs751952895
|
0.00001
|
|
NM_022114.4(PRDM16):c.1032+9C>T
|
rs752780796
|
0.00001
|
|
NM_022114.4(PRDM16):c.1033-14A>G
|
rs778504357
|
0.00001
|
|
NM_022114.4(PRDM16):c.1062G>A (p.Arg354=)
|
rs749348281
|
0.00001
|
|
NM_022114.4(PRDM16):c.1131G>A (p.Thr377=)
|
rs769778096
|
0.00001
|
|
NM_022114.4(PRDM16):c.1158T>C (p.His386=)
|
rs1260995619
|
0.00001
|
|
NM_022114.4(PRDM16):c.1187-8T>C
|
rs1183088688
|
0.00001
|
|
NM_022114.4(PRDM16):c.132G>A (p.Ser44=)
|
rs373546344
|
0.00001
|
|
NM_022114.4(PRDM16):c.1461G>A (p.Glu487=)
|
rs374384603
|
0.00001
|
|
NM_022114.4(PRDM16):c.1564T>C (p.Leu522=)
|
rs376746589
|
0.00001
|
|
NM_022114.4(PRDM16):c.1651C>T (p.Leu551=)
|
rs757695488
|
0.00001
|
|
NM_022114.4(PRDM16):c.1707G>A (p.Thr569=)
|
rs774578880
|
0.00001
|
|
NM_022114.4(PRDM16):c.1725C>T (p.Pro575=)
|
rs753442334
|
0.00001
|
|
NM_022114.4(PRDM16):c.1788C>T (p.Ser596=)
|
rs766972389
|
0.00001
|
|
NM_022114.4(PRDM16):c.1807G>A (p.Asp603Asn)
|
rs199984813
|
0.00001
|
|
NM_022114.4(PRDM16):c.1818C>T (p.Asp606=)
|
rs372578303
|
0.00001
|
|
NM_022114.4(PRDM16):c.1884C>T (p.Asp628=)
|
rs762491643
|
0.00001
|
|
NM_022114.4(PRDM16):c.1929C>T (p.Ala643=)
|
rs781608108
|
0.00001
|
|
NM_022114.4(PRDM16):c.1977G>A (p.Pro659=)
|
rs759550479
|
0.00001
|
|
NM_022114.4(PRDM16):c.1995G>A (p.Val665=)
|
rs370328226
|
0.00001
|
|
NM_022114.4(PRDM16):c.2067C>T (p.Ala689=)
|
rs371813954
|
0.00001
|
|
NM_022114.4(PRDM16):c.2106G>A (p.Lys702=)
|
rs776564044
|
0.00001
|
|
NM_022114.4(PRDM16):c.2169G>A (p.Ser723=)
|
rs775363690
|
0.00001
|
|
NM_022114.4(PRDM16):c.2188C>T (p.Leu730=)
|
rs998587011
|
0.00001
|
|
NM_022114.4(PRDM16):c.2316C>T (p.Pro772=)
|
rs1643709868
|
0.00001
|
|
NM_022114.4(PRDM16):c.2358G>C (p.Leu786=)
|
rs539709297
|
0.00001
|
|
NM_022114.4(PRDM16):c.2376C>T (p.Pro792=)
|
rs765834618
|
0.00001
|
|
NM_022114.4(PRDM16):c.2385C>T (p.Pro795=)
|
rs752553894
|
0.00001
|
|
NM_022114.4(PRDM16):c.2436T>A (p.Arg812=)
|
rs1287494453
|
0.00001
|
|
NM_022114.4(PRDM16):c.2457G>A (p.Gly819=)
|
rs779330948
|
0.00001
|
|
NM_022114.4(PRDM16):c.2556G>A (p.Pro852=)
|
rs570631594
|
0.00001
|
|
NM_022114.4(PRDM16):c.2565C>T (p.Tyr855=)
|
rs769253322
|
0.00001
|
|
NM_022114.4(PRDM16):c.2568C>T (p.Ala856=)
|
rs1028577681
|
0.00001
|
|
NM_022114.4(PRDM16):c.267C>T (p.Ser89=)
|
rs1375652103
|
0.00001
|
|
NM_022114.4(PRDM16):c.2772C>G (p.Pro924=)
|
rs759889503
|
0.00001
|
|
NM_022114.4(PRDM16):c.2820C>T (p.Ser940=)
|
rs764764989
|
0.00001
|
|
NM_022114.4(PRDM16):c.2861+9C>G
|
rs1311984735
|
0.00001
|
|
NM_022114.4(PRDM16):c.2940-16C>T
|
rs374845861
|
0.00001
|
|
NM_022114.4(PRDM16):c.2976G>A (p.Ser992=)
|
rs558657594
|
0.00001
|
|
NM_022114.4(PRDM16):c.2991C>T (p.His997=)
|
rs1230593041
|
0.00001
|
|
NM_022114.4(PRDM16):c.3090C>T (p.His1030=)
|
rs768283494
|
0.00001
|
|
NM_022114.4(PRDM16):c.30A>G (p.Leu10=)
|
rs776122259
|
0.00001
|
|
NM_022114.4(PRDM16):c.3110-6C>T
|
rs1300909185
|
0.00001
|
|
NM_022114.4(PRDM16):c.3123C>T (p.Pro1041=)
|
rs111922473
|
0.00001
|
|
NM_022114.4(PRDM16):c.3129C>T (p.Val1043=)
|
rs199507891
|
0.00001
|
|
NM_022114.4(PRDM16):c.3189A>G (p.Ala1063=)
|
rs1557670065
|
0.00001
|
|
NM_022114.4(PRDM16):c.3210C>T (p.Asp1070=)
|
rs1408885025
|
0.00001
|
|
NM_022114.4(PRDM16):c.3288G>A (p.Ala1096=)
|
rs754951901
|
0.00001
|
|
NM_022114.4(PRDM16):c.3300C>T (p.Ile1100=)
|
rs757372504
|
0.00001
|
|
NM_022114.4(PRDM16):c.3444G>A (p.Glu1148=)
|
rs370445519
|
0.00001
|
|
NM_022114.4(PRDM16):c.3459C>T (p.Tyr1153=)
|
rs994086253
|
0.00001
|
|
NM_022114.4(PRDM16):c.3522-15C>T
|
rs768576120
|
0.00001
|
|
NM_022114.4(PRDM16):c.3564G>A (p.Pro1188=)
|
rs1439452609
|
0.00001
|
|
NM_022114.4(PRDM16):c.3579G>A (p.Gly1193=)
|
rs1172414043
|
0.00001
|
|
NM_022114.4(PRDM16):c.366G>A (p.Lys122=)
|
rs763380749
|
0.00001
|
|
NM_022114.4(PRDM16):c.3697-12C>T
|
rs758164093
|
0.00001
|
|
NM_022114.4(PRDM16):c.3697-6C>T
|
rs746937579
|
0.00001
|
|
NM_022114.4(PRDM16):c.3729C>T (p.Asp1243=)
|
rs1198367549
|
0.00001
|
|
NM_022114.4(PRDM16):c.3750C>T (p.Ser1250=)
|
rs546815156
|
0.00001
|
|
NM_022114.4(PRDM16):c.3792G>A (p.Thr1264=)
|
rs566695262
|
0.00001
|
|
NM_022114.4(PRDM16):c.3795G>A (p.Ser1265=)
|
rs777228666
|
0.00001
|
|
NM_022114.4(PRDM16):c.387+11G>A
|
rs748135291
|
0.00001
|
|
NM_022114.4(PRDM16):c.402C>T (p.Asp134=)
|
rs779682238
|
0.00001
|
|
NM_022114.4(PRDM16):c.666C>T (p.Pro222=)
|
rs876657565
|
0.00001
|
|
NM_022114.4(PRDM16):c.831C>T (p.Ser277=)
|
rs1278770328
|
0.00001
|
|
NM_022114.4(PRDM16):c.882C>T (p.Tyr294=)
|
rs985187014
|
0.00001
|
|
NM_022114.4(PRDM16):c.885-13G>A
|
rs908696915
|
0.00001
|
|
NM_022114.4(PRDM16):c.936C>T (p.Asp312=)
|
rs752864531
|
0.00001
|
|
NM_022114.4(PRDM16):c.954C>T (p.Phe318=)
|
rs758648409
|
0.00001
|
|
NM_022114.4(PRDM16):c.993C>T (p.His331=)
|
rs374504712
|
0.00001
|
|
NM_022114.4(PRDM16):c.999C>T (p.Ser333=)
|
rs779735049
|
0.00001
|
|
NM_024334.3(TMEM43):c.1001-11C>T
|
rs755132712
|
0.00001
|
|
NM_024334.3(TMEM43):c.1074G>A (p.Ser358=)
|
rs377104916
|
0.00001
|
|
NM_024334.3(TMEM43):c.1120_1121del (p.Leu374fs)
|
rs746672224
|
0.00001
|
|
NM_024334.3(TMEM43):c.1158C>T (p.Pro386=)
|
rs1377312502
|
0.00001
|
|
NM_024334.3(TMEM43):c.164G>A (p.Gly55Asp)
|
rs201453637
|
0.00001
|
|
NM_024334.3(TMEM43):c.168C>T (p.Arg56=)
|
rs768752495
|
0.00001
|
|
NM_024334.3(TMEM43):c.186C>G (p.Thr62=)
|
rs773764939
|
0.00001
|
|
NM_024334.3(TMEM43):c.207G>A (p.Ser69=)
|
rs886058030
|
0.00001
|
|
NM_024334.3(TMEM43):c.213G>A (p.Val71=)
|
rs756764750
|
0.00001
|
|
NM_024334.3(TMEM43):c.246G>A (p.Pro82=)
|
rs376098518
|
0.00001
|
|
NM_024334.3(TMEM43):c.324C>T (p.Val108=)
|
rs371279985
|
0.00001
|
|
NM_024334.3(TMEM43):c.354C>T (p.His118=)
|
rs754103544
|
0.00001
|
|
NM_024334.3(TMEM43):c.381T>C (p.Thr127=)
|
rs778409275
|
0.00001
|
|
NM_024334.3(TMEM43):c.392+8G>C
|
rs187725428
|
0.00001
|
|
NM_024334.3(TMEM43):c.392+9T>C
|
rs780392028
|
0.00001
|
|
NM_024334.3(TMEM43):c.42T>C (p.His14=)
|
rs773252383
|
0.00001
|
|
NM_024334.3(TMEM43):c.443-10C>T
|
rs1695115549
|
0.00001
|
|
NM_024334.3(TMEM43):c.443-12C>G
|
rs368555747
|
0.00001
|
|
NM_024334.3(TMEM43):c.483C>T (p.Phe161=)
|
rs772842801
|
0.00001
|
|
NM_024334.3(TMEM43):c.512+8C>A
|
rs757632483
|
0.00001
|
|
NM_024334.3(TMEM43):c.583+8T>C
|
rs377518739
|
0.00001
|
|
NM_024334.3(TMEM43):c.584-16A>G
|
rs562436722
|
0.00001
|
|
NM_024334.3(TMEM43):c.763C>T (p.Leu255=)
|
rs761968722
|
0.00001
|
|
NM_024334.3(TMEM43):c.768C>A (p.Gly256=)
|
rs955293392
|
0.00001
|
|
NM_024334.3(TMEM43):c.781-13G>T
|
rs202207425
|
0.00001
|
|
NM_024334.3(TMEM43):c.78G>A (p.Leu26=)
|
rs1695064079
|
0.00001
|
|
NM_024334.3(TMEM43):c.801G>A (p.Gln267=)
|
rs1258459178
|
0.00001
|
|
NM_024334.3(TMEM43):c.831C>T (p.Thr277=)
|
rs758007704
|
0.00001
|
|
NM_024334.3(TMEM43):c.834G>A (p.Lys278=)
|
rs151009158
|
0.00001
|
|
NM_024334.3(TMEM43):c.840G>C (p.Gly280=)
|
rs755018311
|
0.00001
|
|
NM_024334.3(TMEM43):c.852G>A (p.Leu284=)
|
rs139211731
|
0.00001
|
|
NM_024334.3(TMEM43):c.855C>G (p.Leu285=)
|
rs1337055313
|
0.00001
|
|
NM_024334.3(TMEM43):c.873C>T (p.Phe291=)
|
rs1452047536
|
0.00001
|
|
NM_024334.3(TMEM43):c.882+8C>T
|
rs920512368
|
0.00001
|
|
NM_024334.3(TMEM43):c.90C>T (p.Ser30=)
|
rs373839281
|
0.00001
|
|
NM_024334.3(TMEM43):c.993C>T (p.Tyr331=)
|
rs755042745
|
0.00001
|
|
NM_024334.3(TMEM43):c.99G>A (p.Ser33=)
|
rs147710692
|
0.00001
|
|
NM_024422.6(DSC2):c.105G>A (p.Val35=)
|
rs776441487
|
0.00001
|
|
NM_024422.6(DSC2):c.1077+11G>T
|
rs727504868
|
0.00001
|
|
NM_024422.6(DSC2):c.1077+15T>C
|
rs374321855
|
0.00001
|
|
NM_024422.6(DSC2):c.1110T>C (p.Asp370=)
|
rs1567977994
|
0.00001
|
|
NM_024422.6(DSC2):c.1131T>G (p.Thr377=)
|
rs772815380
|
0.00001
|
|
NM_024422.6(DSC2):c.120C>A (p.Pro40=)
|
rs773259822
|
0.00001
|
|
NM_024422.6(DSC2):c.1230C>T (p.Ala410=)
|
rs778090203
|
0.00001
|
|
NM_024422.6(DSC2):c.1347A>G (p.Pro449=)
|
rs1157738158
|
0.00001
|
|
NM_024422.6(DSC2):c.1410G>A (p.Glu470=)
|
rs551265924
|
0.00001
|
|
NM_024422.6(DSC2):c.144T>G (p.Leu48=)
|
rs1598592489
|
0.00001
|
|
NM_024422.6(DSC2):c.1521-5A>G
|
rs397517392
|
0.00001
|
|
NM_024422.6(DSC2):c.1548G>T (p.Gly516=)
|
rs1465276759
|
0.00001
|
|
NM_024422.6(DSC2):c.1560T>C (p.Ile520=)
|
rs1193943164
|
0.00001
|
|
NM_024422.6(DSC2):c.1596C>T (p.Ser532=)
|
rs1387501743
|
0.00001
|
|
NM_024422.6(DSC2):c.159C>T (p.Asn53=)
|
rs952701114
|
0.00001
|
|
NM_024422.6(DSC2):c.1803G>A (p.Glu601=)
|
rs1288832288
|
0.00001
|
|
NM_024422.6(DSC2):c.1889-10A>G
|
rs1371722130
|
0.00001
|
|
NM_024422.6(DSC2):c.1926A>G (p.Pro642=)
|
rs776278152
|
0.00001
|
|
NM_024422.6(DSC2):c.1981G>A (p.Val661Ile)
|
rs781419827
|
0.00001
|
|
NM_024422.6(DSC2):c.1990T>C (p.Leu664=)
|
rs747173696
|
0.00001
|
|
NM_024422.6(DSC2):c.2004G>A (p.Leu668=)
|
rs1986839093
|
0.00001
|
|
NM_024422.6(DSC2):c.2073A>G (p.Gln691=)
|
rs776903280
|
0.00001
|
|
NM_024422.6(DSC2):c.2104T>C (p.Leu702=)
|
rs753742489
|
0.00001
|
|
NM_024422.6(DSC2):c.2126-11T>C
|
rs1283105269
|
0.00001
|
|
NM_024422.6(DSC2):c.2244C>T (p.Asp748=)
|
rs886039103
|
0.00001
|
|
NM_024422.6(DSC2):c.2256T>C (p.Ser752=)
|
rs1369056367
|
0.00001
|
|
NM_024422.6(DSC2):c.2313C>T (p.Thr771=)
|
rs778571921
|
0.00001
|
|
NM_024422.6(DSC2):c.2334C>T (p.Asn778=)
|
rs1282599604
|
0.00001
|
|
NM_024422.6(DSC2):c.2370A>G (p.Gly790=)
|
rs761302953
|
0.00001
|
|
NM_024422.6(DSC2):c.2379C>A (p.Thr793=)
|
rs773813155
|
0.00001
|
|
NM_024422.6(DSC2):c.237C>T (p.Val79=)
|
rs1002646457
|
0.00001
|
|
NM_024422.6(DSC2):c.2382G>A (p.Ser794=)
|
rs761322462
|
0.00001
|
|
NM_024422.6(DSC2):c.2391C>T (p.Cys797=)
|
rs544366164
|
0.00001
|
|
NM_024422.6(DSC2):c.2416C>T (p.Leu806=)
|
rs758409608
|
0.00001
|
|
NM_024422.6(DSC2):c.2430G>A (p.Arg810=)
|
rs755276378
|
0.00001
|
|
NM_024422.6(DSC2):c.2472G>A (p.Ser824=)
|
rs374348925
|
0.00001
|
|
NM_024422.6(DSC2):c.2509-8C>T
|
rs772194578
|
0.00001
|
|
NM_024422.6(DSC2):c.2592G>A (p.Ser864=)
|
rs1241309506
|
0.00001
|
|
NM_024422.6(DSC2):c.2610T>C (p.Gly870=)
|
rs761875347
|
0.00001
|
|
NM_024422.6(DSC2):c.285C>T (p.Thr95=)
|
rs773333125
|
0.00001
|
|
NM_024422.6(DSC2):c.354+9G>A
|
rs1397580089
|
0.00001
|
|
NM_024422.6(DSC2):c.396C>T (p.Arg132=)
|
rs773053517
|
0.00001
|
|
NM_024422.6(DSC2):c.429G>A (p.Ser143=)
|
rs542638302
|
0.00001
|
|
NM_024422.6(DSC2):c.435A>G (p.Leu145=)
|
rs1167062231
|
0.00001
|
|
NM_024422.6(DSC2):c.474+9T>C
|
rs1400346935
|
0.00001
|
|
NM_024422.6(DSC2):c.475-4C>T
|
rs1431130615
|
0.00001
|
|
NM_024422.6(DSC2):c.540A>G (p.Gln180=)
|
rs1291095173
|
0.00001
|
|
NM_024422.6(DSC2):c.561T>C (p.Tyr187=)
|
rs749063028
|
0.00001
|
|
NM_024422.6(DSC2):c.585G>A (p.Leu195=)
|
rs912124448
|
0.00001
|
|
NM_024422.6(DSC2):c.60G>A (p.Leu20=)
|
rs1201166808
|
0.00001
|
|
NM_024422.6(DSC2):c.627T>C (p.Phe209=)
|
rs754168300
|
0.00001
|
|
NM_024422.6(DSC2):c.687A>G (p.Leu229=)
|
rs371192108
|
0.00001
|
|
NM_024422.6(DSC2):c.70-9A>G
|
rs752022380
|
0.00001
|
|
NM_024422.6(DSC2):c.775+8C>A
|
rs757814061
|
0.00001
|
|
NM_024422.6(DSC2):c.777C>T (p.Gly259=)
|
rs565694087
|
0.00001
|
|
NM_024422.6(DSC2):c.825G>A (p.Thr275=)
|
rs767301887
|
0.00001
|
|
NM_024422.6(DSC2):c.942+22C>G
|
rs748709100
|
0.00001
|
|
NM_024422.6(DSC2):c.975A>G (p.Val325=)
|
rs1411764092
|
0.00001
|
|
NM_032578.4(MYPN):c.105G>A (p.Ala35=)
|
rs533632772
|
0.00001
|
|
NM_032578.4(MYPN):c.1071T>C (p.Tyr357=)
|
rs1323471969
|
0.00001
|
|
NM_032578.4(MYPN):c.1130+8T>C
|
rs375465809
|
0.00001
|
|
NM_032578.4(MYPN):c.1152G>T (p.Val384=)
|
rs148936510
|
0.00001
|
|
NM_032578.4(MYPN):c.1188A>G (p.Pro396=)
|
rs371437119
|
0.00001
|
|
NM_032578.4(MYPN):c.1245+19A>G
|
rs773859141
|
0.00001
|
|
NM_032578.4(MYPN):c.1246-6T>C
|
rs767717878
|
0.00001
|
|
NM_032578.4(MYPN):c.1431T>C (p.Asp477=)
|
rs1464264584
|
0.00001
|
|
NM_032578.4(MYPN):c.1440T>C (p.Asp480=)
|
rs1230149474
|
0.00001
|
|
NM_032578.4(MYPN):c.1600+14A>C
|
rs753375562
|
0.00001
|
|
NM_032578.4(MYPN):c.1623C>T (p.Asn541=)
|
rs746849244
|
0.00001
|
|
NM_032578.4(MYPN):c.1680C>T (p.Pro560=)
|
rs566128597
|
0.00001
|
|
NM_032578.4(MYPN):c.1734C>T (p.Leu578=)
|
rs747764237
|
0.00001
|
|
NM_032578.4(MYPN):c.1749G>A (p.Val583=)
|
rs200760918
|
0.00001
|
|
NM_032578.4(MYPN):c.1797C>T (p.His599=)
|
rs757346980
|
0.00001
|
|
NM_032578.4(MYPN):c.1806G>A (p.Leu602=)
|
rs754999743
|
0.00001
|
|
NM_032578.4(MYPN):c.1863A>G (p.Arg621=)
|
rs373826163
|
0.00001
|
|
NM_032578.4(MYPN):c.1932C>T (p.Ser644=)
|
rs187664226
|
0.00001
|
|
NM_032578.4(MYPN):c.1938G>C (p.Val646=)
|
rs776043765
|
0.00001
|
|
NM_032578.4(MYPN):c.207A>G (p.Gln69=)
|
rs1488329353
|
0.00001
|
|
NM_032578.4(MYPN):c.2454T>G (p.Ser818=)
|
rs758819987
|
0.00001
|
|
NM_032578.4(MYPN):c.2643C>T (p.Asn881=)
|
rs777342412
|
0.00001
|
|
NM_032578.4(MYPN):c.2704-13G>A
|
rs1381527530
|
0.00001
|
|
NM_032578.4(MYPN):c.2704-14T>G
|
rs2043463747
|
0.00001
|
|
NM_032578.4(MYPN):c.289A>C (p.Arg97=)
|
rs753677566
|
0.00001
|
|
NM_032578.4(MYPN):c.2943T>C (p.Asp981=)
|
rs762543605
|
0.00001
|
|
NM_032578.4(MYPN):c.3075+20C>T
|
rs377273417
|
0.00001
|
|
NM_032578.4(MYPN):c.3075+8C>T
|
rs767145495
|
0.00001
|
|
NM_032578.4(MYPN):c.3075+9G>A
|
rs370764417
|
0.00001
|
|
NM_032578.4(MYPN):c.312G>A (p.Gln104=)
|
rs571241816
|
0.00001
|
|
NM_032578.4(MYPN):c.3156C>T (p.His1052=)
|
rs876657923
|
0.00001
|
|
NM_032578.4(MYPN):c.3159-19A>C
|
rs754950593
|
0.00001
|
|
NM_032578.4(MYPN):c.3159-5T>C
|
rs753674673
|
0.00001
|
|
NM_032578.4(MYPN):c.3167C>T (p.Ser1056Phe)
|
rs373101027
|
0.00001
|
|
NM_032578.4(MYPN):c.3286-16T>C
|
rs1273931462
|
0.00001
|
|
NM_032578.4(MYPN):c.3300G>A (p.Pro1100=)
|
rs777293049
|
0.00001
|
|
NM_032578.4(MYPN):c.3378C>T (p.Thr1126=)
|
rs751943423
|
0.00001
|
|
NM_032578.4(MYPN):c.339T>C (p.Phe113=)
|
rs773471286
|
0.00001
|
|
NM_032578.4(MYPN):c.3471T>C (p.Phe1157=)
|
rs1366474190
|
0.00001
|
|
NM_032578.4(MYPN):c.3494-6G>T
|
rs768274852
|
0.00001
|
|
NM_032578.4(MYPN):c.3543C>T (p.Cys1181=)
|
rs756337136
|
0.00001
|
|
NM_032578.4(MYPN):c.3564C>T (p.Pro1188=)
|
rs768400415
|
0.00001
|
|
NM_032578.4(MYPN):c.3612C>T (p.Tyr1204=)
|
rs1457583142
|
0.00001
|
|
NM_032578.4(MYPN):c.3659+19C>A
|
rs1465178515
|
0.00001
|
|
NM_032578.4(MYPN):c.3793+13C>T
|
rs187622020
|
0.00001
|
|
NM_032578.4(MYPN):c.3794-8T>C
|
rs778883331
|
0.00001
|
|
NM_032578.4(MYPN):c.3813C>A (p.Ile1271=)
|
rs777067913
|
0.00001
|
|
NM_032578.4(MYPN):c.3819G>A (p.Pro1273=)
|
rs528450397
|
0.00001
|
|
NM_032578.4(MYPN):c.3945G>C (p.Val1315=)
|
rs267602553
|
0.00001
|
|
NM_032578.4(MYPN):c.42G>A (p.Gln14=)
|
rs760916544
|
0.00001
|
|
NM_032578.4(MYPN):c.471C>T (p.Phe157=)
|
rs1484845169
|
0.00001
|
|
NM_032578.4(MYPN):c.480G>A (p.Glu160=)
|
rs1264041775
|
0.00001
|
|
NM_032578.4(MYPN):c.528T>C (p.Arg176=)
|
rs1158680867
|
0.00001
|
|
NM_032578.4(MYPN):c.636C>T (p.Pro212=)
|
rs748061439
|
0.00001
|
|
NM_032578.4(MYPN):c.858A>G (p.Val286=)
|
rs924022007
|
0.00001
|
|
NM_032578.4(MYPN):c.903-18A>T
|
rs775857947
|
0.00001
|
|
NM_032578.4(MYPN):c.903-4G>T
|
rs886039040
|
0.00001
|
|
NM_032578.4(MYPN):c.975A>G (p.Ser325=)
|
rs1158590887
|
0.00001
|
|
NM_032578.4(MYPN):c.987G>A (p.Ala329=)
|
rs199931312
|
0.00001
|
|
NM_033118.4(MYLK2):c.1020C>T (p.Arg340=)
|
rs1331155233
|
0.00001
|
|
NM_033118.4(MYLK2):c.1092C>T (p.Gly364=)
|
rs745574239
|
0.00001
|
|
NM_033118.4(MYLK2):c.1137C>T (p.Thr379=)
|
rs759608229
|
0.00001
|
|
NM_033118.4(MYLK2):c.1194C>T (p.His398=)
|
rs767402714
|
0.00001
|
|
NM_033118.4(MYLK2):c.1203G>A (p.Arg401=)
|
rs755594011
|
0.00001
|
|
NM_033118.4(MYLK2):c.1227A>G (p.Pro409=)
|
rs1297500199
|
0.00001
|
|
NM_033118.4(MYLK2):c.1233C>T (p.Asn411=)
|
rs200963586
|
0.00001
|
|
NM_033118.4(MYLK2):c.1254C>T (p.Thr418=)
|
rs575681305
|
0.00001
|
|
NM_033118.4(MYLK2):c.1314G>A (p.Lys438=)
|
rs990954469
|
0.00001
|
|
NM_033118.4(MYLK2):c.1410G>A (p.Val470=)
|
rs1489644054
|
0.00001
|
|
NM_033118.4(MYLK2):c.1425-5T>C
|
rs763149471
|
0.00001
|
|
NM_033118.4(MYLK2):c.1425-6C>T
|
rs200234935
|
0.00001
|
|
NM_033118.4(MYLK2):c.1515C>T (p.Thr505=)
|
rs930435016
|
0.00001
|
|
NM_033118.4(MYLK2):c.1533C>T (p.Asp511=)
|
rs201144061
|
0.00001
|
|
NM_033118.4(MYLK2):c.1577+10A>G
|
rs777459815
|
0.00001
|
|
NM_033118.4(MYLK2):c.1577+9C>T
|
rs373252847
|
0.00001
|
|
NM_033118.4(MYLK2):c.1578-16G>A
|
rs765150509
|
0.00001
|
|
NM_033118.4(MYLK2):c.1632G>A (p.Ala544=)
|
rs772321212
|
0.00001
|
|
NM_033118.4(MYLK2):c.1659C>T (p.Arg553=)
|
rs727504624
|
0.00001
|
|
NM_033118.4(MYLK2):c.1710+8T>C
|
rs1010376413
|
0.00001
|
|
NM_033118.4(MYLK2):c.1764G>A (p.Ser588=)
|
rs758879929
|
0.00001
|
|
NM_033118.4(MYLK2):c.189T>C (p.Asp63=)
|
rs1266323436
|
0.00001
|
|
NM_033118.4(MYLK2):c.204A>G (p.Gln68=)
|
rs1240723658
|
0.00001
|
|
NM_033118.4(MYLK2):c.21A>G (p.Ala7=)
|
rs754853086
|
0.00001
|
|
NM_033118.4(MYLK2):c.249C>T (p.Gly83=)
|
rs774383057
|
0.00001
|
|
NM_033118.4(MYLK2):c.267C>T (p.Gly89=)
|
rs757350083
|
0.00001
|
|
NM_033118.4(MYLK2):c.294C>T (p.Pro98=)
|
rs373609417
|
0.00001
|
|
NM_033118.4(MYLK2):c.393G>A (p.Lys131=)
|
rs397517474
|
0.00001
|
|
NM_033118.4(MYLK2):c.52+11G>A
|
rs2062241495
|
0.00001
|
|
NM_033118.4(MYLK2):c.594C>T (p.Asn198=)
|
rs771352528
|
0.00001
|
|
NM_033118.4(MYLK2):c.633C>T (p.Thr211=)
|
rs768001289
|
0.00001
|
|
NM_033118.4(MYLK2):c.772+18G>C
|
rs773045483
|
0.00001
|
|
NM_033118.4(MYLK2):c.78T>A (p.Gly26=)
|
rs1600406921
|
0.00001
|
|
NM_033118.4(MYLK2):c.879-13C>T
|
rs367859025
|
0.00001
|
|
NM_033118.4(MYLK2):c.879-19C>A
|
rs769913699
|
0.00001
|
|
NM_033118.4(MYLK2):c.972+13C>T
|
rs876657524
|
0.00001
|
|
NM_033118.4(MYLK2):c.972+17G>A
|
rs1429941974
|
0.00001
|
|
NM_033118.4(MYLK2):c.972+19T>C
|
rs747697105
|
0.00001
|
|
NM_144573.4(NEXN):c.1083T>C (p.Tyr361=)
|
rs1060504549
|
0.00001
|
|
NM_144573.4(NEXN):c.1251+10T>C
|
rs1397556067
|
0.00001
|
|
NM_144573.4(NEXN):c.1266T>C (p.Asn422=)
|
rs1200707526
|
0.00001
|
|
NM_144573.4(NEXN):c.1332A>G (p.Gln444=)
|
rs1385609119
|
0.00001
|
|
NM_144573.4(NEXN):c.1401A>T (p.Ile467=)
|
rs1571157558
|
0.00001
|
|
NM_144573.4(NEXN):c.1413A>G (p.Arg471=)
|
rs780858511
|
0.00001
|
|
NM_144573.4(NEXN):c.1419A>G (p.Arg473=)
|
rs140900323
|
0.00001
|
|
NM_144573.4(NEXN):c.1474-10T>C
|
rs374541562
|
0.00001
|
|
NM_144573.4(NEXN):c.1605A>G (p.Gln535=)
|
rs778477679
|
0.00001
|
|
NM_144573.4(NEXN):c.1653A>G (p.Leu551=)
|
rs794727078
|
0.00001
|
|
NM_144573.4(NEXN):c.1683A>G (p.Glu561=)
|
rs1403473507
|
0.00001
|
|
NM_144573.4(NEXN):c.1704C>T (p.Gly568=)
|
rs397517850
|
0.00001
|
|
NM_144573.4(NEXN):c.1731C>G (p.Thr577=)
|
rs371743669
|
0.00001
|
|
NM_144573.4(NEXN):c.1743T>G (p.Ala581=)
|
rs772313224
|
0.00001
|
|
NM_144573.4(NEXN):c.1899G>A (p.Arg633=)
|
rs374467054
|
0.00001
|
|
NM_144573.4(NEXN):c.1995T>C (p.Ser665=)
|
rs757311272
|
0.00001
|
|
NM_144573.4(NEXN):c.207G>A (p.Arg69=)
|
rs1414407444
|
0.00001
|
|
NM_144573.4(NEXN):c.237T>C (p.Ala79=)
|
rs727504549
|
0.00001
|
|
NM_144573.4(NEXN):c.299-10A>G
|
rs1452768769
|
0.00001
|
|
NM_144573.4(NEXN):c.299-14T>C
|
rs921990698
|
0.00001
|
|
NM_144573.4(NEXN):c.373C>A (p.Arg125=)
|
rs773500471
|
0.00001
|
|
NM_144573.4(NEXN):c.448-10C>T
|
rs773027207
|
0.00001
|
|
NM_144573.4(NEXN):c.456C>T (p.Asp152=)
|
rs760312569
|
0.00001
|
|
NM_144573.4(NEXN):c.579A>G (p.Glu193=)
|
rs1476054611
|
0.00001
|
|
NM_144573.4(NEXN):c.669G>A (p.Lys223=)
|
rs767747207
|
0.00001
|
|
NM_144573.4(NEXN):c.66T>C (p.Tyr22=)
|
rs749182975
|
0.00001
|
|
NM_144573.4(NEXN):c.711A>C (p.Ala237=)
|
rs754009978
|
0.00001
|
|
NM_144573.4(NEXN):c.987A>C (p.Ala329=)
|
rs1270187994
|
0.00001
|
|
NM_145046.5(CALR3):c.1080G>A (p.Glu360=)
|
rs752458256
|
0.00001
|
|
NM_145046.5(CALR3):c.156G>A (p.Ser52=)
|
rs779192527
|
0.00001
|
|
NM_145046.5(CALR3):c.216C>T (p.Gly72=)
|
rs577809057
|
0.00001
|
|
NM_145046.5(CALR3):c.271C>T (p.Leu91=)
|
rs765069343
|
0.00001
|
|
NM_145046.5(CALR3):c.291A>G (p.Val97=)
|
rs1056692608
|
0.00001
|
|
NM_145046.5(CALR3):c.398-17G>C
|
rs779762872
|
0.00001
|
|
NM_145046.5(CALR3):c.398-9T>C
|
rs1344157973
|
0.00001
|
|
NM_145046.5(CALR3):c.492+9T>C
|
rs780317722
|
0.00001
|
|
NM_145046.5(CALR3):c.493-15C>G
|
rs775571848
|
0.00001
|
|
NM_145046.5(CALR3):c.546T>C (p.Tyr182=)
|
rs369476772
|
0.00001
|
|
NM_145046.5(CALR3):c.633G>A (p.Pro211=)
|
rs748099861
|
0.00001
|
|
NM_145046.5(CALR3):c.705C>T (p.Ala235=)
|
rs1330398267
|
0.00001
|
|
NM_145046.5(CALR3):c.759G>A (p.Ala253=)
|
rs1011639048
|
0.00001
|
|
NM_145046.5(CALR3):c.786+18A>T
|
rs780747845
|
0.00001
|
|
NM_145046.5(CALR3):c.858G>A (p.Leu286=)
|
rs1275633743
|
0.00001
|
|
NM_152594.3(SPRED1):c.1146C>T (p.Asp382=)
|
rs1286583801
|
0.00001
|
|
NM_152594.3(SPRED1):c.1191C>T (p.Asp397=)
|
rs749745659
|
0.00001
|
|
NM_152594.3(SPRED1):c.123C>T (p.Ser41=)
|
rs748759533
|
0.00001
|
|
NM_152594.3(SPRED1):c.1278C>T (p.Cys426=)
|
rs1313604330
|
0.00001
|
|
NM_152594.3(SPRED1):c.15G>C (p.Thr5=)
|
rs1278027767
|
0.00001
|
|
NM_152594.3(SPRED1):c.196A>C (p.Arg66=)
|
rs751923342
|
0.00001
|
|
NM_152594.3(SPRED1):c.207+19A>G
|
rs369538663
|
0.00001
|
|
NM_152594.3(SPRED1):c.208-6T>C
|
rs1241478218
|
0.00001
|
|
NM_152594.3(SPRED1):c.27C>T (p.Asp9=)
|
rs727504717
|
0.00001
|
|
NM_152594.3(SPRED1):c.321T>C (p.Ala107=)
|
rs770197803
|
0.00001
|
|
NM_152594.3(SPRED1):c.33-11A>G
|
rs775671940
|
0.00001
|
|
NM_152594.3(SPRED1):c.33-7A>G
|
rs760850290
|
0.00001
|
|
NM_152594.3(SPRED1):c.348C>T (p.Ile116=)
|
rs773363523
|
0.00001
|
|
NM_152594.3(SPRED1):c.377-19del
|
rs1267902445
|
0.00001
|
|
NM_152594.3(SPRED1):c.384C>T (p.Pro128=)
|
rs761058615
|
0.00001
|
|
NM_152594.3(SPRED1):c.39T>C (p.Ser13=)
|
rs1303549798
|
0.00001
|
|
NM_152594.3(SPRED1):c.424-15G>A
|
rs1438431114
|
0.00001
|
|
NM_152594.3(SPRED1):c.561C>T (p.Tyr187=)
|
rs201335683
|
0.00001
|
|
NM_152594.3(SPRED1):c.60G>C (p.Val20=)
|
rs367745143
|
0.00001
|
|
NM_152594.3(SPRED1):c.930A>G (p.Val310=)
|
rs1164761920
|
0.00001
|
|
NM_152594.3(SPRED1):c.954A>G (p.Leu318=)
|
rs753357510
|
0.00001
|
|
NM_152594.3(SPRED1):c.990T>G (p.Gly330=)
|
rs1184835258
|
0.00001
|
|
NM_181703.4(GJA5):c.1065C>T (p.Asp355=)
|
rs201657244
|
0.00001
|
|
NM_181703.4(GJA5):c.147G>A (p.Gln49=)
|
rs1487739192
|
0.00001
|
|
NM_181703.4(GJA5):c.258C>T (p.Ser86=)
|
rs782415947
|
0.00001
|
|
NM_181703.4(GJA5):c.516C>T (p.Tyr172=)
|
rs369888327
|
0.00001
|
|
NM_182914.3(SYNE2):c.10095A>G (p.Arg3365=)
|
rs756893550
|
0.00001
|
|
NM_182914.3(SYNE2):c.10195C>T (p.Arg3399Cys)
|
rs528064472
|
0.00001
|
|
NM_182914.3(SYNE2):c.10332G>A (p.Ser3444=)
|
rs1200933436
|
0.00001
|
|
NM_182914.3(SYNE2):c.10432-5A>G
|
rs778528402
|
0.00001
|
|
NM_182914.3(SYNE2):c.10965A>G (p.Ala3655=)
|
rs762605398
|
0.00001
|
|
NM_182914.3(SYNE2):c.11023-10T>C
|
rs1485815530
|
0.00001
|
|
NM_182914.3(SYNE2):c.11163+7T>C
|
rs1439914153
|
0.00001
|
|
NM_182914.3(SYNE2):c.11229C>T (p.Asp3743=)
|
rs779841354
|
0.00001
|
|
NM_182914.3(SYNE2):c.11528C>T (p.Ser3843Leu)
|
rs757893794
|
0.00001
|
|
NM_182914.3(SYNE2):c.1152A>G (p.Leu384=)
|
rs1379407865
|
0.00001
|
|
NM_182914.3(SYNE2):c.11670+8T>G
|
rs758440569
|
0.00001
|
|
NM_182914.3(SYNE2):c.11670+9G>A
|
rs780011944
|
0.00001
|
|
NM_182914.3(SYNE2):c.12307-9G>A
|
rs376765095
|
0.00001
|
|
NM_182914.3(SYNE2):c.12345C>T (p.Val4115=)
|
rs762079506
|
0.00001
|
|
NM_182914.3(SYNE2):c.12537A>G (p.Gln4179=)
|
rs369330578
|
0.00001
|
|
NM_182914.3(SYNE2):c.12594C>G (p.Pro4198=)
|
rs770716382
|
0.00001
|
|
NM_182914.3(SYNE2):c.12618A>C (p.Thr4206=)
|
rs766785640
|
0.00001
|
|
NM_182914.3(SYNE2):c.12795C>T (p.Asn4265=)
|
rs780647420
|
0.00001
|
|
NM_182914.3(SYNE2):c.12841-10T>C
|
rs1387619527
|
0.00001
|
|
NM_182914.3(SYNE2):c.12841-5C>T
|
rs1425905308
|
0.00001
|
|
NM_182914.3(SYNE2):c.12945T>G (p.Leu4315=)
|
rs1308459272
|
0.00001
|
|
NM_182914.3(SYNE2):c.13011C>T (p.His4337=)
|
rs2097882431
|
0.00001
|
|
NM_182914.3(SYNE2):c.1323G>A (p.Ser441=)
|
rs765911939
|
0.00001
|
|
NM_182914.3(SYNE2):c.13256A>G (p.Asp4419Gly)
|
rs376129364
|
0.00001
|
|
NM_182914.3(SYNE2):c.13371T>C (p.His4457=)
|
rs778640413
|
0.00001
|
|
NM_182914.3(SYNE2):c.13457C>G (p.Thr4486Ser)
|
rs377086810
|
0.00001
|
|
NM_182914.3(SYNE2):c.13510C>G (p.Gln4504Glu)
|
rs372861398
|
0.00001
|
|
NM_182914.3(SYNE2):c.13554+7G>C
|
rs776811933
|
0.00001
|
|
NM_182914.3(SYNE2):c.13743G>A (p.Ala4581=)
|
rs543426485
|
0.00001
|
|
NM_182914.3(SYNE2):c.13752C>T (p.Asp4584=)
|
rs770594903
|
0.00001
|
|
NM_182914.3(SYNE2):c.13983T>C (p.Asn4661=)
|
rs200656842
|
0.00001
|
|
NM_182914.3(SYNE2):c.14013G>A (p.Gln4671=)
|
rs1228539994
|
0.00001
|
|
NM_182914.3(SYNE2):c.14028T>C (p.Asp4676=)
|
rs766123007
|
0.00001
|
|
NM_182914.3(SYNE2):c.1407-15T>G
|
rs537583390
|
0.00001
|
|
NM_182914.3(SYNE2):c.14187A>G (p.Glu4729=)
|
rs149662402
|
0.00001
|
|
NM_182914.3(SYNE2):c.14451A>G (p.Thr4817=)
|
rs777338731
|
0.00001
|
|
NM_182914.3(SYNE2):c.144C>T (p.His48=)
|
rs751515594
|
0.00001
|
|
NM_182914.3(SYNE2):c.14586C>G (p.Pro4862=)
|
rs779659277
|
0.00001
|
|
NM_182914.3(SYNE2):c.14643C>T (p.Tyr4881=)
|
rs747393237
|
0.00001
|
|
NM_182914.3(SYNE2):c.1468T>C (p.Leu490=)
|
rs999610655
|
0.00001
|
|
NM_182914.3(SYNE2):c.15159+11A>G
|
rs755542471
|
0.00001
|
|
NM_182914.3(SYNE2):c.15219C>T (p.Asn5073=)
|
rs762722997
|
0.00001
|
|
NM_182914.3(SYNE2):c.15474G>A (p.Leu5158=)
|
rs374906011
|
0.00001
|
|
NM_182914.3(SYNE2):c.15484-10A>T
|
rs1442139129
|
0.00001
|
|
NM_182914.3(SYNE2):c.15484-6A>T
|
rs1009151850
|
0.00001
|
|
NM_182914.3(SYNE2):c.15666A>G (p.Lys5222=)
|
rs1212070796
|
0.00001
|
|
NM_182914.3(SYNE2):c.1570-4C>G
|
rs564220213
|
0.00001
|
|
NM_182914.3(SYNE2):c.15810C>T (p.Thr5270=)
|
rs182449286
|
0.00001
|
|
NM_182914.3(SYNE2):c.16605+10A>G
|
rs761193543
|
0.00001
|
|
NM_182914.3(SYNE2):c.16641T>C (p.Asp5547=)
|
rs767615577
|
0.00001
|
|
NM_182914.3(SYNE2):c.16854G>A (p.Val5618=)
|
rs1490325276
|
0.00001
|
|
NM_182914.3(SYNE2):c.16863T>C (p.Ala5621=)
|
rs200618488
|
0.00001
|
|
NM_182914.3(SYNE2):c.1689G>A (p.Val563=)
|
rs756480117
|
0.00001
|
|
NM_182914.3(SYNE2):c.17082C>T (p.Asp5694=)
|
rs973393555
|
0.00001
|
|
NM_182914.3(SYNE2):c.17430+17C>T
|
rs768432917
|
0.00001
|
|
NM_182914.3(SYNE2):c.17577T>C (p.Ala5859=)
|
rs1408686631
|
0.00001
|
|
NM_182914.3(SYNE2):c.17745A>G (p.Arg5915=)
|
rs747187442
|
0.00001
|
|
NM_182914.3(SYNE2):c.17832G>A (p.Ala5944=)
|
rs886050596
|
0.00001
|
|
NM_182914.3(SYNE2):c.18015T>C (p.His6005=)
|
rs1323946751
|
0.00001
|
|
NM_182914.3(SYNE2):c.18038+9T>C
|
rs779922538
|
0.00001
|
|
NM_182914.3(SYNE2):c.18039-13C>A
|
rs763230839
|
0.00001
|
|
NM_182914.3(SYNE2):c.18162C>T (p.Cys6054=)
|
rs1340810234
|
0.00001
|
|
NM_182914.3(SYNE2):c.18240G>A (p.Val6080=)
|
rs897434313
|
0.00001
|
|
NM_182914.3(SYNE2):c.18246C>T (p.Ser6082=)
|
rs371505187
|
0.00001
|
|
NM_182914.3(SYNE2):c.18267C>T (p.Val6089=)
|
rs1303670860
|
0.00001
|
|
NM_182914.3(SYNE2):c.1837-4G>T
|
rs1351178002
|
0.00001
|
|
NM_182914.3(SYNE2):c.18402G>A (p.Thr6134=)
|
rs374459819
|
0.00001
|
|
NM_182914.3(SYNE2):c.1842C>T (p.Pro614=)
|
rs1192547176
|
0.00001
|
|
NM_182914.3(SYNE2):c.18509C>T (p.Thr6170Met)
|
rs200893937
|
0.00001
|
|
NM_182914.3(SYNE2):c.18633G>A (p.Thr6211=)
|
rs755914136
|
0.00001
|
|
NM_182914.3(SYNE2):c.18717A>G (p.Arg6239=)
|
rs764900964
|
0.00001
|
|
NM_182914.3(SYNE2):c.18723+20G>T
|
rs771206230
|
0.00001
|
|
NM_182914.3(SYNE2):c.18744A>G (p.Glu6248=)
|
rs370847169
|
0.00001
|
|
NM_182914.3(SYNE2):c.18771T>C (p.Ile6257=)
|
rs769603327
|
0.00001
|
|
NM_182914.3(SYNE2):c.18810C>T (p.Asn6270=)
|
rs750950612
|
0.00001
|
|
NM_182914.3(SYNE2):c.18873G>A (p.Gln6291=)
|
rs528469386
|
0.00001
|
|
NM_182914.3(SYNE2):c.19023C>A (p.Ser6341=)
|
rs759765636
|
0.00001
|
|
NM_182914.3(SYNE2):c.19056+10C>T
|
rs369172478
|
0.00001
|
|
NM_182914.3(SYNE2):c.19057-6G>C
|
rs1404626317
|
0.00001
|
|
NM_182914.3(SYNE2):c.1914C>T (p.Val638=)
|
rs756044885
|
0.00001
|
|
NM_182914.3(SYNE2):c.19224C>T (p.Thr6408=)
|
rs372802910
|
0.00001
|
|
NM_182914.3(SYNE2):c.19302C>T (p.Asp6434=)
|
rs370677320
|
0.00001
|
|
NM_182914.3(SYNE2):c.19428G>A (p.Ser6476=)
|
rs749018683
|
0.00001
|
|
NM_182914.3(SYNE2):c.19494T>C (p.Asn6498=)
|
rs1381540183
|
0.00001
|
|
NM_182914.3(SYNE2):c.19497T>C (p.Val6499=)
|
rs1176808345
|
0.00001
|
|
NM_182914.3(SYNE2):c.19509C>A (p.Pro6503=)
|
rs1211489077
|
0.00001
|
|
NM_182914.3(SYNE2):c.19554A>G (p.Leu6518=)
|
rs775682046
|
0.00001
|
|
NM_182914.3(SYNE2):c.19657+19A>G
|
rs759411356
|
0.00001
|
|
NM_182914.3(SYNE2):c.19773A>G (p.Lys6591=)
|
rs1046553272
|
0.00001
|
|
NM_182914.3(SYNE2):c.20139C>T (p.Thr6713=)
|
rs765716455
|
0.00001
|
|
NM_182914.3(SYNE2):c.20409C>T (p.Phe6803=)
|
rs1233622581
|
0.00001
|
|
NM_182914.3(SYNE2):c.20423C>T (p.Ser6808Leu)
|
rs372922867
|
0.00001
|
|
NM_182914.3(SYNE2):c.20511G>A (p.Glu6837=)
|
rs559718346
|
0.00001
|
|
NM_182914.3(SYNE2):c.20517-13C>T
|
rs752222544
|
0.00001
|
|
NM_182914.3(SYNE2):c.20547C>T (p.Ser6849=)
|
rs371041220
|
0.00001
|
|
NM_182914.3(SYNE2):c.20631C>T (p.Ser6877=)
|
rs1473688689
|
0.00001
|
|
NM_182914.3(SYNE2):c.2067T>C (p.Ile689=)
|
rs375396479
|
0.00001
|
|
NM_182914.3(SYNE2):c.20688C>T (p.Pro6896=)
|
rs1419099314
|
0.00001
|
|
NM_182914.3(SYNE2):c.20715C>A (p.Pro6905=)
|
rs765218485
|
0.00001
|
|
NM_182914.3(SYNE2):c.2493T>G (p.Ile831Met)
|
rs754886522
|
0.00001
|
|
NM_182914.3(SYNE2):c.2517C>T (p.Asp839=)
|
rs776136245
|
0.00001
|
|
NM_182914.3(SYNE2):c.2532G>A (p.Leu844=)
|
rs769024558
|
0.00001
|
|
NM_182914.3(SYNE2):c.2787T>A (p.Leu929=)
|
rs1422696880
|
0.00001
|
|
NM_182914.3(SYNE2):c.2967G>A (p.Leu989=)
|
rs1166230456
|
0.00001
|
|
NM_182914.3(SYNE2):c.3102C>T (p.Ser1034=)
|
rs886050580
|
0.00001
|
|
NM_182914.3(SYNE2):c.3152+11C>G
|
rs1351316005
|
0.00001
|
|
NM_182914.3(SYNE2):c.3429T>C (p.Ser1143=)
|
rs752244351
|
0.00001
|
|
NM_182914.3(SYNE2):c.3639-7C>T
|
rs1372182084
|
0.00001
|
|
NM_182914.3(SYNE2):c.3711G>A (p.Ser1237=)
|
rs773704983
|
0.00001
|
|
NM_182914.3(SYNE2):c.3787-12T>A
|
rs1321975749
|
0.00001
|
|
NM_182914.3(SYNE2):c.408+8G>A
|
rs753202342
|
0.00001
|
|
NM_182914.3(SYNE2):c.4380T>G (p.Val1460=)
|
rs746868605
|
0.00001
|
|
NM_182914.3(SYNE2):c.4710G>C (p.Leu1570=)
|
rs774571797
|
0.00001
|
|
NM_182914.3(SYNE2):c.4939T>C (p.Leu1647=)
|
rs760189953
|
0.00001
|
|
NM_182914.3(SYNE2):c.495A>G (p.Ser165=)
|
rs758680110
|
0.00001
|
|
NM_182914.3(SYNE2):c.4977T>C (p.Asp1659=)
|
rs369766827
|
0.00001
|
|
NM_182914.3(SYNE2):c.5019A>G (p.Gln1673=)
|
rs577536564
|
0.00001
|
|
NM_182914.3(SYNE2):c.5253G>A (p.Arg1751=)
|
rs375022006
|
0.00001
|
|
NM_182914.3(SYNE2):c.5463C>T (p.Val1821=)
|
rs2096938872
|
0.00001
|
|
NM_182914.3(SYNE2):c.5525-5T>C
|
rs368511555
|
0.00001
|
|
NM_182914.3(SYNE2):c.5529A>G (p.Gln1843=)
|
rs757852900
|
0.00001
|
|
NM_182914.3(SYNE2):c.5619A>G (p.Gln1873=)
|
rs371756347
|
0.00001
|
|
NM_182914.3(SYNE2):c.5835A>G (p.Leu1945=)
|
rs766666230
|
0.00001
|
|
NM_182914.3(SYNE2):c.585C>T (p.Cys195=)
|
rs762405319
|
0.00001
|
|
NM_182914.3(SYNE2):c.5985A>G (p.Gln1995=)
|
rs754628340
|
0.00001
|
|
NM_182914.3(SYNE2):c.6315G>A (p.Glu2105=)
|
rs931196719
|
0.00001
|
|
NM_182914.3(SYNE2):c.6381C>T (p.Leu2127=)
|
rs1293504177
|
0.00001
|
|
NM_182914.3(SYNE2):c.654C>T (p.Ala218=)
|
rs759694907
|
0.00001
|
|
NM_182914.3(SYNE2):c.6585G>A (p.Leu2195=)
|
rs1468484964
|
0.00001
|
|
NM_182914.3(SYNE2):c.6915A>G (p.Thr2305=)
|
rs767578236
|
0.00001
|
|
NM_182914.3(SYNE2):c.6945C>T (p.Ser2315=)
|
rs564454573
|
0.00001
|
|
NM_182914.3(SYNE2):c.6993T>C (p.Asp2331=)
|
rs781188791
|
0.00001
|
|
NM_182914.3(SYNE2):c.711C>G (p.Ser237=)
|
rs758188083
|
0.00001
|
|
NM_182914.3(SYNE2):c.7227A>G (p.Ser2409=)
|
rs1351381991
|
0.00001
|
|
NM_182914.3(SYNE2):c.7257T>C (p.Leu2419=)
|
rs768146609
|
0.00001
|
|
NM_182914.3(SYNE2):c.7378-17G>A
|
rs765573084
|
0.00001
|
|
NM_182914.3(SYNE2):c.7463C>T (p.Ala2488Val)
|
rs763317566
|
0.00001
|
|
NM_182914.3(SYNE2):c.7563C>T (p.Val2521=)
|
rs760651832
|
0.00001
|
|
NM_182914.3(SYNE2):c.7614C>T (p.Ala2538=)
|
rs1377164548
|
0.00001
|
|
NM_182914.3(SYNE2):c.7665G>A (p.Thr2555=)
|
rs772344164
|
0.00001
|
|
NM_182914.3(SYNE2):c.787+12T>C
|
rs775758502
|
0.00001
|
|
NM_182914.3(SYNE2):c.8013C>T (p.Asp2671=)
|
rs1324986561
|
0.00001
|
|
NM_182914.3(SYNE2):c.8247A>G (p.Glu2749=)
|
rs957070747
|
0.00001
|
|
NM_182914.3(SYNE2):c.888+18T>C
|
rs1237235458
|
0.00001
|
|
NM_182914.3(SYNE2):c.9186T>C (p.Ile3062=)
|
rs1178929783
|
0.00001
|
|
NM_182914.3(SYNE2):c.9330C>T (p.Thr3110=)
|
rs765014161
|
0.00001
|
|
NM_182914.3(SYNE2):c.9558A>G (p.Gln3186=)
|
rs776801026
|
0.00001
|
|
NM_182914.3(SYNE2):c.9744+10A>C
|
rs1242432428
|
0.00001
|
|
NM_182914.3(SYNE2):c.990+12T>G
|
rs775463750
|
0.00001
|
|
NM_182914.3(SYNE2):c.9993T>C (p.Tyr3331=)
|
rs777547599
|
0.00001
|
|
NM_182961.4(SYNE1):c.10206C>T (p.Ser3402=)
|
rs1158144490
|
0.00001
|
|
NM_182961.4(SYNE1):c.10318C>T (p.Leu3440=)
|
rs997731221
|
0.00001
|
|
NM_182961.4(SYNE1):c.10449C>T (p.Ala3483=)
|
rs759403120
|
0.00001
|
|
NM_182961.4(SYNE1):c.10608+20A>G
|
rs370822005
|
0.00001
|
|
NM_182961.4(SYNE1):c.10620A>G (p.Val3540=)
|
rs1308068026
|
0.00001
|
|
NM_182961.4(SYNE1):c.10836A>G (p.Glu3612=)
|
rs147021971
|
0.00001
|
|
NM_182961.4(SYNE1):c.10927-18G>A
|
rs759603128
|
0.00001
|
|
NM_182961.4(SYNE1):c.10953C>T (p.Tyr3651=)
|
rs779741109
|
0.00001
|
|
NM_182961.4(SYNE1):c.11083-8T>C
|
rs752554466
|
0.00001
|
|
NM_182961.4(SYNE1):c.11083-9C>T
|
rs758255035
|
0.00001
|
|
NM_182961.4(SYNE1):c.1110A>G (p.Gln370=)
|
rs756294096
|
0.00001
|
|
NM_182961.4(SYNE1):c.11412C>T (p.Val3804=)
|
rs777170937
|
0.00001
|
|
NM_182961.4(SYNE1):c.11490G>A (p.Gln3830=)
|
rs746623465
|
0.00001
|
|
NM_182961.4(SYNE1):c.11581-19T>C
|
rs1193068464
|
0.00001
|
|
NM_182961.4(SYNE1):c.11970G>A (p.Leu3990=)
|
rs960254266
|
0.00001
|
|
NM_182961.4(SYNE1):c.12039A>C (p.Thr4013=)
|
rs1190890349
|
0.00001
|
|
NM_182961.4(SYNE1):c.12079-4T>C
|
rs749035276
|
0.00001
|
|
NM_182961.4(SYNE1):c.12171G>A (p.Pro4057=)
|
rs112128801
|
0.00001
|
|
NM_182961.4(SYNE1):c.12352-19A>G
|
rs535649438
|
0.00001
|
|
NM_182961.4(SYNE1):c.12435C>T (p.Tyr4145=)
|
rs1167024658
|
0.00001
|
|
NM_182961.4(SYNE1):c.12687C>T (p.Cys4229=)
|
rs755451612
|
0.00001
|
|
NM_182961.4(SYNE1):c.12794+18A>T
|
rs780721542
|
0.00001
|
|
NM_182961.4(SYNE1):c.12832T>C (p.Leu4278=)
|
rs749626940
|
0.00001
|
|
NM_182961.4(SYNE1):c.12883C>T (p.Leu4295=)
|
rs781279526
|
0.00001
|
|
NM_182961.4(SYNE1):c.12954G>A (p.Thr4318=)
|
rs968884551
|
0.00001
|
|
NM_182961.4(SYNE1):c.1299G>A (p.Gln433=)
|
rs1224893756
|
0.00001
|
|
NM_182961.4(SYNE1):c.13032G>A (p.Glu4344=)
|
rs1053180393
|
0.00001
|
|
NM_182961.4(SYNE1):c.13320A>G (p.Leu4440=)
|
rs374787261
|
0.00001
|
|
NM_182961.4(SYNE1):c.13368C>T (p.Thr4456=)
|
rs141847989
|
0.00001
|
|
NM_182961.4(SYNE1):c.13467G>A (p.Val4489=)
|
rs1166201006
|
0.00001
|
|
NM_182961.4(SYNE1):c.13476A>G (p.Gln4492=)
|
rs758900989
|
0.00001
|
|
NM_182961.4(SYNE1):c.1350+13G>A
|
rs994953289
|
0.00001
|
|
NM_182961.4(SYNE1):c.13695G>A (p.Lys4565=)
|
rs530630718
|
0.00001
|
|
NM_182961.4(SYNE1):c.13710T>C (p.Asp4570=)
|
rs563207771
|
0.00001
|
|
NM_182961.4(SYNE1):c.13827T>G (p.Leu4609=)
|
rs1415812565
|
0.00001
|
|
NM_182961.4(SYNE1):c.14187G>A (p.Ala4729=)
|
rs886042872
|
0.00001
|
|
NM_182961.4(SYNE1):c.141A>G (p.Pro47=)
|
rs551171550
|
0.00001
|
|
NM_182961.4(SYNE1):c.14274A>G (p.Leu4758=)
|
rs1454377562
|
0.00001
|
|
NM_182961.4(SYNE1):c.14628G>A (p.Val4876=)
|
rs772957773
|
0.00001
|
|
NM_182961.4(SYNE1):c.15057A>G (p.Ala5019=)
|
rs1462308045
|
0.00001
|
|
NM_182961.4(SYNE1):c.15072C>T (p.Asp5024=)
|
rs772100783
|
0.00001
|
|
NM_182961.4(SYNE1):c.15165G>C (p.Leu5055=)
|
rs760844118
|
0.00001
|
|
NM_182961.4(SYNE1):c.15198C>T (p.Thr5066=)
|
rs370314344
|
0.00001
|
|
NM_182961.4(SYNE1):c.15294-16G>A
|
rs762945450
|
0.00001
|
|
NM_182961.4(SYNE1):c.15330G>A (p.Arg5110=)
|
rs780437149
|
0.00001
|
|
NM_182961.4(SYNE1):c.15370T>C (p.Leu5124=)
|
rs758423743
|
0.00001
|
|
NM_182961.4(SYNE1):c.15658-20G>T
|
rs901508795
|
0.00001
|
|
NM_182961.4(SYNE1):c.1590C>T (p.Tyr530=)
|
rs369178017
|
0.00001
|
|
NM_182961.4(SYNE1):c.16237-10A>T
|
rs201078255
|
0.00001
|
|
NM_182961.4(SYNE1):c.16272G>A (p.Lys5424=)
|
rs142704460
|
0.00001
|
|
NM_182961.4(SYNE1):c.16867C>T (p.Arg5623Cys)
|
rs570556738
|
0.00001
|
|
NM_182961.4(SYNE1):c.16956G>A (p.Gln5652=)
|
rs1455225493
|
0.00001
|
|
NM_182961.4(SYNE1):c.17016G>T (p.Arg5672=)
|
rs573806608
|
0.00001
|
|
NM_182961.4(SYNE1):c.17020-16G>A
|
rs745471011
|
0.00001
|
|
NM_182961.4(SYNE1):c.17097C>T (p.Pro5699=)
|
rs769890058
|
0.00001
|
|
NM_182961.4(SYNE1):c.17118A>G (p.Leu5706=)
|
rs1194006323
|
0.00001
|
|
NM_182961.4(SYNE1):c.17229T>C (p.Tyr5743=)
|
rs377344899
|
0.00001
|
|
NM_182961.4(SYNE1):c.1729+8A>G
|
rs188999515
|
0.00001
|
|
NM_182961.4(SYNE1):c.17347-16G>C
|
rs200637611
|
0.00001
|
|
NM_182961.4(SYNE1):c.17487G>A (p.Glu5829=)
|
rs963252462
|
0.00001
|
|
NM_182961.4(SYNE1):c.17562C>T (p.His5854=)
|
rs771992733
|
0.00001
|
|
NM_182961.4(SYNE1):c.17682+7C>T
|
rs1453568721
|
0.00001
|
|
NM_182961.4(SYNE1):c.17757C>T (p.Ser5919=)
|
rs550385131
|
0.00001
|
|
NM_182961.4(SYNE1):c.17775T>C (p.Tyr5925=)
|
rs756831138
|
0.00001
|
|
NM_182961.4(SYNE1):c.17851-7G>T
|
rs776806501
|
0.00001
|
|
NM_182961.4(SYNE1):c.17943C>A (p.Ala5981=)
|
rs201436749
|
0.00001
|
|
NM_182961.4(SYNE1):c.18072C>T (p.Leu6024=)
|
rs749375364
|
0.00001
|
|
NM_182961.4(SYNE1):c.18090C>T (p.Ser6030=)
|
rs146238726
|
0.00001
|
|
NM_182961.4(SYNE1):c.18189G>C (p.Gly6063=)
|
rs1025895913
|
0.00001
|
|
NM_182961.4(SYNE1):c.18228G>A (p.Leu6076=)
|
rs1188706681
|
0.00001
|
|
NM_182961.4(SYNE1):c.18249G>A (p.Gln6083=)
|
rs748739828
|
0.00001
|
|
NM_182961.4(SYNE1):c.18327G>A (p.Ala6109=)
|
rs148518750
|
0.00001
|
|
NM_182961.4(SYNE1):c.18432A>C (p.Ser6144=)
|
rs769588658
|
0.00001
|
|
NM_182961.4(SYNE1):c.18574-4G>C
|
rs767063118
|
0.00001
|
|
NM_182961.4(SYNE1):c.18615A>G (p.Thr6205=)
|
rs552884641
|
0.00001
|
|
NM_182961.4(SYNE1):c.18663C>T (p.Thr6221=)
|
rs771466788
|
0.00001
|
|
NM_182961.4(SYNE1):c.1875G>A (p.Leu625=)
|
rs908412593
|
0.00001
|
|
NM_182961.4(SYNE1):c.18813T>C (p.Ala6271=)
|
rs368818393
|
0.00001
|
|
NM_182961.4(SYNE1):c.1887A>G (p.Leu629=)
|
rs972467458
|
0.00001
|
|
NM_182961.4(SYNE1):c.19014G>A (p.Leu6338=)
|
rs762720357
|
0.00001
|
|
NM_182961.4(SYNE1):c.19086C>T (p.Phe6362=)
|
rs749565347
|
0.00001
|
|
NM_182961.4(SYNE1):c.1932+7T>C
|
rs754738610
|
0.00001
|
|
NM_182961.4(SYNE1):c.19683C>G (p.Ser6561=)
|
rs1463559492
|
0.00001
|
|
NM_182961.4(SYNE1):c.19719C>T (p.Ile6573=)
|
rs1437801725
|
0.00001
|
|
NM_182961.4(SYNE1):c.19815T>A (p.Gly6605=)
|
rs776418227
|
0.00001
|
|
NM_182961.4(SYNE1):c.19894-11A>C
|
rs1388264961
|
0.00001
|
|
NM_182961.4(SYNE1):c.20068-20G>A
|
rs769554267
|
0.00001
|
|
NM_182961.4(SYNE1):c.20295A>G (p.Leu6765=)
|
rs1180529553
|
0.00001
|
|
NM_182961.4(SYNE1):c.20517A>G (p.Leu6839=)
|
rs1428729266
|
0.00001
|
|
NM_182961.4(SYNE1):c.20530-10C>T
|
rs1562379182
|
0.00001
|
|
NM_182961.4(SYNE1):c.20553C>T (p.Ala6851=)
|
rs969664934
|
0.00001
|
|
NM_182961.4(SYNE1):c.20691C>T (p.Ala6897=)
|
rs775882254
|
0.00001
|
|
NM_182961.4(SYNE1):c.20955G>A (p.Lys6985=)
|
rs138024258
|
0.00001
|
|
NM_182961.4(SYNE1):c.20964T>C (p.Asp6988=)
|
rs1361567937
|
0.00001
|
|
NM_182961.4(SYNE1):c.21352-19T>C
|
rs1316209013
|
0.00001
|
|
NM_182961.4(SYNE1):c.21426A>T (p.Ile7142=)
|
rs775691059
|
0.00001
|
|
NM_182961.4(SYNE1):c.21523-19G>A
|
rs1480392957
|
0.00001
|
|
NM_182961.4(SYNE1):c.21657-19T>C
|
rs993085792
|
0.00001
|
|
NM_182961.4(SYNE1):c.21663T>C (p.Asn7221=)
|
rs1413291850
|
0.00001
|
|
NM_182961.4(SYNE1):c.21702C>T (p.Ser7234=)
|
rs763751486
|
0.00001
|
|
NM_182961.4(SYNE1):c.2175G>A (p.Thr725=)
|
rs1023357286
|
0.00001
|
|
NM_182961.4(SYNE1):c.21825C>T (p.Ala7275=)
|
rs746044264
|
0.00001
|
|
NM_182961.4(SYNE1):c.21862-4C>T
|
rs772311271
|
0.00001
|
|
NM_182961.4(SYNE1):c.22045-17C>A
|
rs750865625
|
0.00001
|
|
NM_182961.4(SYNE1):c.22260A>G (p.Leu7420=)
|
rs900883985
|
0.00001
|
|
NM_182961.4(SYNE1):c.22308T>C (p.His7436=)
|
rs538357613
|
0.00001
|
|
NM_182961.4(SYNE1):c.22368A>G (p.Leu7456=)
|
rs745722568
|
0.00001
|
|
NM_182961.4(SYNE1):c.22557A>G (p.Gln7519=)
|
rs779555194
|
0.00001
|
|
NM_182961.4(SYNE1):c.22770C>T (p.Leu7590=)
|
rs765032226
|
0.00001
|
|
NM_182961.4(SYNE1):c.22824+19T>C
|
rs367932651
|
0.00001
|
|
NM_182961.4(SYNE1):c.22825-14A>G
|
rs201610447
|
0.00001
|
|
NM_182961.4(SYNE1):c.22887G>A (p.Lys7629=)
|
rs780771518
|
0.00001
|
|
NM_182961.4(SYNE1):c.22914C>T (p.Gly7638=)
|
rs772920041
|
0.00001
|
|
NM_182961.4(SYNE1):c.22941C>T (p.Leu7647=)
|
rs747134735
|
0.00001
|
|
NM_182961.4(SYNE1):c.23100C>T (p.Leu7700=)
|
rs1020807218
|
0.00001
|
|
NM_182961.4(SYNE1):c.23148A>G (p.Glu7716=)
|
rs768057206
|
0.00001
|
|
NM_182961.4(SYNE1):c.23190G>A (p.Gln7730=)
|
rs370445850
|
0.00001
|
|
NM_182961.4(SYNE1):c.23271G>A (p.Leu7757=)
|
rs993878825
|
0.00001
|
|
NM_182961.4(SYNE1):c.23301+10G>A
|
rs113526858
|
0.00001
|
|
NM_182961.4(SYNE1):c.23406A>G (p.Lys7802=)
|
rs780485635
|
0.00001
|
|
NM_182961.4(SYNE1):c.23460+10G>A
|
rs376484866
|
0.00001
|
|
NM_182961.4(SYNE1):c.23628-20T>C
|
rs1242408253
|
0.00001
|
|
NM_182961.4(SYNE1):c.23703C>T (p.Leu7901=)
|
rs998453025
|
0.00001
|
|
NM_182961.4(SYNE1):c.23791-5T>C
|
rs2061329366
|
0.00001
|
|
NM_182961.4(SYNE1):c.23991G>A (p.Thr7997=)
|
rs572195368
|
0.00001
|
|
NM_182961.4(SYNE1):c.2412C>T (p.Ser804=)
|
rs1384388900
|
0.00001
|
|
NM_182961.4(SYNE1):c.24273C>T (p.Asn8091=)
|
rs774885671
|
0.00001
|
|
NM_182961.4(SYNE1):c.24330T>C (p.Arg8110=)
|
rs994710536
|
0.00001
|
|
NM_182961.4(SYNE1):c.24420T>C (p.Cys8140=)
|
rs1437033330
|
0.00001
|
|
NM_182961.4(SYNE1):c.24423T>C (p.Asp8141=)
|
rs1257978665
|
0.00001
|
|
NM_182961.4(SYNE1):c.24549G>A (p.Ala8183=)
|
rs755622688
|
0.00001
|
|
NM_182961.4(SYNE1):c.24552C>T (p.Ile8184=)
|
rs563494219
|
0.00001
|
|
NM_182961.4(SYNE1):c.24600C>T (p.Phe8200=)
|
rs370421580
|
0.00001
|
|
NM_182961.4(SYNE1):c.24613A>C (p.Arg8205=)
|
rs779904585
|
0.00001
|
|
NM_182961.4(SYNE1):c.24618C>T (p.Tyr8206=)
|
rs373486168
|
0.00001
|
|
NM_182961.4(SYNE1):c.24633C>T (p.Ile8211=)
|
rs201078523
|
0.00001
|
|
NM_182961.4(SYNE1):c.24771C>T (p.Leu8257=)
|
rs2059847697
|
0.00001
|
|
NM_182961.4(SYNE1):c.24801C>T (p.Ser8267=)
|
rs754900484
|
0.00001
|
|
NM_182961.4(SYNE1):c.24867T>C (p.Tyr8289=)
|
rs794727110
|
0.00001
|
|
NM_182961.4(SYNE1):c.2487C>T (p.Asp829=)
|
rs753367709
|
0.00001
|
|
NM_182961.4(SYNE1):c.25032T>C (p.Asp8344=)
|
rs779618522
|
0.00001
|
|
NM_182961.4(SYNE1):c.25056C>T (p.Thr8352=)
|
rs200678102
|
0.00001
|
|
NM_182961.4(SYNE1):c.25062T>C (p.Asn8354=)
|
rs765407593
|
0.00001
|
|
NM_182961.4(SYNE1):c.25362C>T (p.Ala8454=)
|
rs773341728
|
0.00001
|
|
NM_182961.4(SYNE1):c.25656C>T (p.Cys8552=)
|
rs747858299
|
0.00001
|
|
NM_182961.4(SYNE1):c.25789-12T>G
|
rs775060646
|
0.00001
|
|
NM_182961.4(SYNE1):c.26106G>A (p.Lys8702=)
|
rs765865910
|
0.00001
|
|
NM_182961.4(SYNE1):c.26214C>T (p.Arg8738=)
|
rs529628600
|
0.00001
|
|
NM_182961.4(SYNE1):c.2661C>T (p.Asn887=)
|
rs780865643
|
0.00001
|
|
NM_182961.4(SYNE1):c.2685G>A (p.Thr895=)
|
rs754176545
|
0.00001
|
|
NM_182961.4(SYNE1):c.2727+8G>T
|
rs112473275
|
0.00001
|
|
NM_182961.4(SYNE1):c.2892+7C>T
|
rs1372175734
|
0.00001
|
|
NM_182961.4(SYNE1):c.3087T>C (p.Asn1029=)
|
rs770801617
|
0.00001
|
|
NM_182961.4(SYNE1):c.310-11T>G
|
rs1241486044
|
0.00001
|
|
NM_182961.4(SYNE1):c.3387C>T (p.Tyr1129=)
|
rs561575834
|
0.00001
|
|
NM_182961.4(SYNE1):c.3396-15C>T
|
rs535421518
|
0.00001
|
|
NM_182961.4(SYNE1):c.3462C>T (p.Ala1154=)
|
rs1485702967
|
0.00001
|
|
NM_182961.4(SYNE1):c.3735C>T (p.Leu1245=)
|
rs758375991
|
0.00001
|
|
NM_182961.4(SYNE1):c.384C>G (p.Thr128=)
|
rs773315965
|
0.00001
|
|
NM_182961.4(SYNE1):c.3912G>T (p.Gly1304=)
|
rs199595574
|
0.00001
|
|
NM_182961.4(SYNE1):c.4044C>T (p.Asn1348=)
|
rs765010255
|
0.00001
|
|
NM_182961.4(SYNE1):c.4462-7C>A
|
rs776393742
|
0.00001
|
|
NM_182961.4(SYNE1):c.4809G>A (p.Glu1603=)
|
rs758316270
|
0.00001
|
|
NM_182961.4(SYNE1):c.4884G>A (p.Glu1628=)
|
rs886042121
|
0.00001
|
|
NM_182961.4(SYNE1):c.5037T>C (p.Ser1679=)
|
rs1010531718
|
0.00001
|
|
NM_182961.4(SYNE1):c.5088T>G (p.Leu1696=)
|
rs767477486
|
0.00001
|
|
NM_182961.4(SYNE1):c.5220G>A (p.Glu1740=)
|
rs751765439
|
0.00001
|
|
NM_182961.4(SYNE1):c.5256C>A (p.Ile1752=)
|
rs587780469
|
0.00001
|
|
NM_182961.4(SYNE1):c.5422-7C>T
|
rs757136765
|
0.00001
|
|
NM_182961.4(SYNE1):c.5556G>A (p.Leu1852=)
|
rs762111366
|
0.00001
|
|
NM_182961.4(SYNE1):c.600A>T (p.Val200=)
|
rs781563259
|
0.00001
|
|
NM_182961.4(SYNE1):c.6027T>A (p.Pro2009=)
|
rs1181492707
|
0.00001
|
|
NM_182961.4(SYNE1):c.6051-15C>A
|
rs199794081
|
0.00001
|
|
NM_182961.4(SYNE1):c.6051-6T>C
|
rs1171413264
|
0.00001
|
|
NM_182961.4(SYNE1):c.6231-7A>G
|
rs368858186
|
0.00001
|
|
NM_182961.4(SYNE1):c.6291T>C (p.Ala2097=)
|
rs767090248
|
0.00001
|
|
NM_182961.4(SYNE1):c.6381+15G>A
|
rs1316706320
|
0.00001
|
|
NM_182961.4(SYNE1):c.6402A>G (p.Lys2134=)
|
rs182732645
|
0.00001
|
|
NM_182961.4(SYNE1):c.6540+11C>T
|
rs765474841
|
0.00001
|
|
NM_182961.4(SYNE1):c.6591C>T (p.Ser2197=)
|
rs190301879
|
0.00001
|
|
NM_182961.4(SYNE1):c.6720T>C (p.Phe2240=)
|
rs758841233
|
0.00001
|
|
NM_182961.4(SYNE1):c.6724-6T>C
|
rs1441438677
|
0.00001
|
|
NM_182961.4(SYNE1):c.679T>C (p.Leu227=)
|
rs374438652
|
0.00001
|
|
NM_182961.4(SYNE1):c.6813G>A (p.Pro2271=)
|
rs138911730
|
0.00001
|
|
NM_182961.4(SYNE1):c.6A>C (p.Ala2=)
|
rs757033067
|
0.00001
|
|
NM_182961.4(SYNE1):c.7218T>C (p.Ser2406=)
|
rs947558246
|
0.00001
|
|
NM_182961.4(SYNE1):c.7267T>C (p.Leu2423=)
|
rs968854661
|
0.00001
|
|
NM_182961.4(SYNE1):c.738C>T (p.Ala246=)
|
rs370211240
|
0.00001
|
|
NM_182961.4(SYNE1):c.7434T>C (p.Ser2478=)
|
rs1340757793
|
0.00001
|
|
NM_182961.4(SYNE1):c.7545A>G (p.Ser2515=)
|
rs747473998
|
0.00001
|
|
NM_182961.4(SYNE1):c.7611G>T (p.Arg2537Ser)
|
rs568309673
|
0.00001
|
|
NM_182961.4(SYNE1):c.7704G>T (p.Leu2568=)
|
rs766042710
|
0.00001
|
|
NM_182961.4(SYNE1):c.7737G>A (p.Gln2579=)
|
rs1275065218
|
0.00001
|
|
NM_182961.4(SYNE1):c.7797C>G (p.Ser2599=)
|
rs748909185
|
0.00001
|
|
NM_182961.4(SYNE1):c.8004+9G>A
|
rs539649819
|
0.00001
|
|
NM_182961.4(SYNE1):c.801T>C (p.Asp267=)
|
rs1211961286
|
0.00001
|
|
NM_182961.4(SYNE1):c.8041T>C (p.Leu2681=)
|
rs758296829
|
0.00001
|
|
NM_182961.4(SYNE1):c.8106G>T (p.Val2702=)
|
rs770378849
|
0.00001
|
|
NM_182961.4(SYNE1):c.8148C>T (p.Asp2716=)
|
rs752872189
|
0.00001
|
|
NM_182961.4(SYNE1):c.8233T>C (p.Leu2745=)
|
rs541934779
|
0.00001
|
|
NM_182961.4(SYNE1):c.8379A>G (p.Leu2793=)
|
rs768912049
|
0.00001
|
|
NM_182961.4(SYNE1):c.8385G>A (p.Ala2795=)
|
rs267600863
|
0.00001
|
|
NM_182961.4(SYNE1):c.8571T>C (p.His2857=)
|
rs886061207
|
0.00001
|
|
NM_182961.4(SYNE1):c.8625C>T (p.Ala2875=)
|
rs759736838
|
0.00001
|
|
NM_182961.4(SYNE1):c.8637G>A (p.Lys2879=)
|
rs146288148
|
0.00001
|
|
NM_182961.4(SYNE1):c.8814C>T (p.Phe2938=)
|
rs780165911
|
0.00001
|
|
NM_182961.4(SYNE1):c.8820G>T (p.Thr2940=)
|
rs769247891
|
0.00001
|
|
NM_182961.4(SYNE1):c.8844C>T (p.Val2948=)
|
rs750603610
|
0.00001
|
|
NM_182961.4(SYNE1):c.8862G>A (p.Ser2954=)
|
rs139845890
|
0.00001
|
|
NM_182961.4(SYNE1):c.8994C>T (p.Cys2998=)
|
rs143974384
|
0.00001
|
|
NM_182961.4(SYNE1):c.9255C>T (p.Ile3085=)
|
rs746663201
|
0.00001
|
|
NM_182961.4(SYNE1):c.9261C>T (p.Thr3087=)
|
rs199554198
|
0.00001
|
|
NM_182961.4(SYNE1):c.9349G>A (p.Gly3117Arg)
|
rs566953005
|
0.00001
|
|
NM_182961.4(SYNE1):c.9435C>G (p.Ala3145=)
|
rs750286179
|
0.00001
|
|
NM_182961.4(SYNE1):c.9507+18C>T
|
rs769887324
|
0.00001
|
|
NM_182961.4(SYNE1):c.9726A>G (p.Glu3242=)
|
rs990051448
|
0.00001
|
|
NM_182961.4(SYNE1):c.9933C>T (p.Ser3311=)
|
rs759403157
|
0.00001
|
|
NC_000018.9:g.(?_3188914)_(3188949_?)del
|
|
|
|
NM_000018.4(ACADVL):c.1005C>T (p.His335=)
|
|
|
|
NM_000018.4(ACADVL):c.1011C>T (p.Leu337=)
|
|
|
|
NM_000018.4(ACADVL):c.1017T>C (p.Asn339=)
|
rs2142980519
|
|
|
NM_000018.4(ACADVL):c.1023G>A (p.Arg341=)
|
rs373411700
|
|
|
NM_000018.4(ACADVL):c.102C>T (p.Gly34=)
|
rs2142961120
|
|
|
NM_000018.4(ACADVL):c.1062C>A (p.Gly354=)
|
rs2142980779
|
|
|
NM_000018.4(ACADVL):c.1074G>A (p.Lys358=)
|
|
|
|
NM_000018.4(ACADVL):c.1077+10C>G
|
|
|
|
NM_000018.4(ACADVL):c.1077+11T>A
|
|
|
|
NM_000018.4(ACADVL):c.1077+13C>T
|
|
|
|
NM_000018.4(ACADVL):c.1077+15C>A
|
|
|
|
NM_000018.4(ACADVL):c.1077+9C>G
|
rs2142980927
|
|
|
NM_000018.4(ACADVL):c.1078-10C>T
|
rs748209172
|
|
|
NM_000018.4(ACADVL):c.1078-15T>A
|
rs2071310800
|
|
|
NM_000018.4(ACADVL):c.1078-18G>A
|
|
|
|
NM_000018.4(ACADVL):c.1078-8T>C
|
rs1597531722
|
|
|
NM_000018.4(ACADVL):c.1078-9C>T
|
rs2071311236
|
|
|
NM_000018.4(ACADVL):c.1080A>G (p.Val360=)
|
|
|
|
NM_000018.4(ACADVL):c.1080A>T (p.Val360=)
|
rs2142981942
|
|
|
NM_000018.4(ACADVL):c.1089C>T (p.Ala363=)
|
rs774273664
|
|
|
NM_000018.4(ACADVL):c.108C>T (p.Ala36=)
|
|
|
|
NM_000018.4(ACADVL):c.1092T>C (p.Thr364=)
|
rs745742925
|
|
|
NM_000018.4(ACADVL):c.1098T>C (p.Arg366=)
|
rs2142982087
|
|
|
NM_000018.4(ACADVL):c.1101C>A (p.Thr367=)
|
|
|
|
NM_000018.4(ACADVL):c.1128T>C (p.Phe376=)
|
|
|
|
NM_000018.4(ACADVL):c.1131G>A (p.Gly377=)
|
rs2142982245
|
|
|
NM_000018.4(ACADVL):c.1140G>A (p.Gln380=)
|
rs748299183
|
|
|
NM_000018.4(ACADVL):c.1146G>A (p.Lys382=)
|
rs1057523504
|
|
|
NM_000018.4(ACADVL):c.1147C>T (p.Leu383=)
|
rs756194870
|
|
|
NM_000018.4(ACADVL):c.1153C>A (p.Arg385=)
|
|
|
|
NM_000018.4(ACADVL):c.1167G>A (p.Leu389=)
|
rs2142982468
|
|
|
NM_000018.4(ACADVL):c.1173T>C (p.Tyr391=)
|
rs2071316298
|
|
|
NM_000018.4(ACADVL):c.1176A>G (p.Val392=)
|
rs2071316566
|
|
|
NM_000018.4(ACADVL):c.1179T>C (p.Thr393=)
|
|
|
|
NM_000018.4(ACADVL):c.1182+16G>T
|
|
|
|
NM_000018.4(ACADVL):c.1182+18C>G
|
|
|
|
NM_000018.4(ACADVL):c.1182+18C>T
|
|
|
|
NM_000018.4(ACADVL):c.1183-11T>C
|
|
|
|
NM_000018.4(ACADVL):c.1183-4T>A
|
rs2142984151
|
|
|
NM_000018.4(ACADVL):c.1200G>A (p.Val400=)
|
rs1597533902
|
|
|
NM_000018.4(ACADVL):c.1200G>C (p.Val400=)
|
rs1597533902
|
|
|
NM_000018.4(ACADVL):c.1215C>T (p.Asp405=)
|
rs2071338251
|
|
|
NM_000018.4(ACADVL):c.1218G>A (p.Gln406=)
|
rs1597533984
|
|
|
NM_000018.4(ACADVL):c.1224C>A (p.Ala408=)
|
|
|
|
NM_000018.4(ACADVL):c.1227G>C (p.Thr409=)
|
|
|
|
NM_000018.4(ACADVL):c.1242G>A (p.Glu414=)
|
rs2142984490
|
|
|
NM_000018.4(ACADVL):c.1245C>A (p.Ala415=)
|
rs1481416358
|
|
|
NM_000018.4(ACADVL):c.1248C>T (p.Ala416=)
|
|
|
|
NM_000018.4(ACADVL):c.1257A>G (p.Lys419=)
|
rs2142984575
|
|
|
NM_000018.4(ACADVL):c.1263T>C (p.Phe421=)
|
|
|
|
NM_000018.4(ACADVL):c.1266C>T (p.Gly422=)
|
|
|
|
NM_000018.4(ACADVL):c.1269+10C>T
|
rs1555528738
|
|
|
NM_000018.4(ACADVL):c.1269+11A>G
|
|
|
|
NM_000018.4(ACADVL):c.1269+13G>C
|
|
|
|
NM_000018.4(ACADVL):c.1269+14C>A
|
|
|
|
NM_000018.4(ACADVL):c.1269+15A>G
|
|
|
|
NM_000018.4(ACADVL):c.1269+16T>C
|
rs2142984714
|
|
|
NM_000018.4(ACADVL):c.1269+20G>A
|
|
|
|
NM_000018.4(ACADVL):c.1269+22dup
|
rs780870246
|
|
|
NM_000018.4(ACADVL):c.1269+7T>G
|
|
|
|
NM_000018.4(ACADVL):c.1269+9C>G
|
rs2142984643
|
|
|
NM_000018.4(ACADVL):c.126G>T (p.Gly42=)
|
|
|
|
NM_000018.4(ACADVL):c.1270-17C>G
|
|
|
|
NM_000018.4(ACADVL):c.1270-17C>T
|
|
|
|
NM_000018.4(ACADVL):c.1270-18T>C
|
|
|
|
NM_000018.4(ACADVL):c.1270-20C>T
|
|
|
|
NM_000018.4(ACADVL):c.1270-6C>T
|
|
|
|
NM_000018.4(ACADVL):c.1270-9T>G
|
rs2142984921
|
|
|
NM_000018.4(ACADVL):c.1278C>T (p.Ala426=)
|
|
|
|
NM_000018.4(ACADVL):c.1287G>A (p.Val429=)
|
rs999226548
|
|
|
NM_000018.4(ACADVL):c.1293T>C (p.Asp431=)
|
rs2142985083
|
|
|
NM_000018.4(ACADVL):c.129T>A (p.Gly43=)
|
rs727503789
|
|
|
NM_000018.4(ACADVL):c.1308C>A (p.Ile436=)
|
rs2142985123
|
|
|
NM_000018.4(ACADVL):c.1308C>T (p.Ile436=)
|
|
|
|
NM_000018.4(ACADVL):c.1314G>A (p.Gly438=)
|
rs2142985177
|
|
|
NM_000018.4(ACADVL):c.1317T>A (p.Gly439=)
|
rs2142985210
|
|
|
NM_000018.4(ACADVL):c.1317T>C (p.Gly439=)
|
rs2142985210
|
|
|
NM_000018.4(ACADVL):c.1323C>T (p.Gly441=)
|
|
|
|
NM_000018.4(ACADVL):c.132C>T (p.Ala44=)
|
rs1237892223
|
|
|
NM_000018.4(ACADVL):c.1332+10G>C
|
rs763921736
|
|
|
NM_000018.4(ACADVL):c.1332+11G>T
|
|
|
|
NM_000018.4(ACADVL):c.1332+16C>T
|
|
|
|
NM_000018.4(ACADVL):c.1332+19C>G
|
|
|
|
NM_000018.4(ACADVL):c.1332+7G>A
|
rs1382340897
|
|
|
NM_000018.4(ACADVL):c.1332+9_1332+10insTCC
|
|
|
|
NM_000018.4(ACADVL):c.1333-10C>T
|
|
|
|
NM_000018.4(ACADVL):c.1333-16T>C
|
|
|
|
NM_000018.4(ACADVL):c.1333-17G>A
|
|
|
|
NM_000018.4(ACADVL):c.1333-18T>C
|
|
|
|
NM_000018.4(ACADVL):c.1333-20T>C
|
|
|
|
NM_000018.4(ACADVL):c.1333-21_1333-20del
|
|
|
|
NM_000018.4(ACADVL):c.1333-5G>T
|
|
|
|
NM_000018.4(ACADVL):c.1333-7G>A
|
rs1228196483
|
|
|
NM_000018.4(ACADVL):c.1333-7G>C
|
|
|
|
NM_000018.4(ACADVL):c.1333-8T>C
|
|
|
|
NM_000018.4(ACADVL):c.1335A>G (p.Glu445=)
|
|
|
|
NM_000018.4(ACADVL):c.1338T>C (p.Pro446=)
|
rs2142985783
|
|
|
NM_000018.4(ACADVL):c.1347G>A (p.Glu449=)
|
|
|
|
NM_000018.4(ACADVL):c.1374C>T (p.Phe458=)
|
|
|
|
NM_000018.4(ACADVL):c.1377G>C (p.Arg459=)
|
rs2142985989
|
|
|
NM_000018.4(ACADVL):c.138+10C>A
|
rs1057523013
|
|
|
NM_000018.4(ACADVL):c.138+10C>T
|
rs1057523013
|
|
|
NM_000018.4(ACADVL):c.138+11G>T
|
|
|
|
NM_000018.4(ACADVL):c.138+15C>T
|
|
|
|
NM_000018.4(ACADVL):c.138+16C>A
|
|
|
|
NM_000018.4(ACADVL):c.138+17T>C
|
rs2142961713
|
|
|
NM_000018.4(ACADVL):c.138+7C>T
|
rs1462406529
|
|
|
NM_000018.4(ACADVL):c.1380C>T (p.Ile460=)
|
rs2071355303
|
|
|
NM_000018.4(ACADVL):c.1389G>C (p.Gly463=)
|
rs377305356
|
|
|
NM_000018.4(ACADVL):c.139-11T>C
|
|
|
|
NM_000018.4(ACADVL):c.139-12C>G
|
|
|
|
NM_000018.4(ACADVL):c.139-14G>C
|
rs1015495051
|
|
|
NM_000018.4(ACADVL):c.139-15C>T
|
|
|
|
NM_000018.4(ACADVL):c.139-16C>A
|
|
|
|
NM_000018.4(ACADVL):c.139-16C>T
|
|
|
|
NM_000018.4(ACADVL):c.139-5C>G
|
rs769138546
|
|
|
NM_000018.4(ACADVL):c.139-5C>T
|
|
|
|
NM_000018.4(ACADVL):c.139-7T>C
|
rs2142963859
|
|
|
NM_000018.4(ACADVL):c.1395T>C (p.Asn465=)
|
rs1301241478
|
|
|
NM_000018.4(ACADVL):c.1398C>T (p.Asp466=)
|
rs2142986089
|
|
|
NM_000018.4(ACADVL):c.1407G>A (p.Arg469=)
|
rs1597535653
|
|
|
NM_000018.4(ACADVL):c.1410G>C (p.Leu470=)
|
rs1281251073
|
|
|
NM_000018.4(ACADVL):c.1416G>C (p.Val472=)
|
rs778848546
|
|
|
NM_000018.4(ACADVL):c.141G>T (p.Leu47=)
|
|
|
|
NM_000018.4(ACADVL):c.1420C>T (p.Leu474=)
|
rs771882915
|
|
|
NM_000018.4(ACADVL):c.1422G>A (p.Leu474=)
|
rs2142986233
|
|
|
NM_000018.4(ACADVL):c.1434+11_1434+12del
|
rs1567567959
|
|
|
NM_000018.4(ACADVL):c.1434+12A>C
|
|
|
|
NM_000018.4(ACADVL):c.1434+15dup
|
|
|
|
NM_000018.4(ACADVL):c.1434+18G>A
|
|
|
|
NM_000018.4(ACADVL):c.1434+19T>C
|
|
|
|
NM_000018.4(ACADVL):c.1434+20G>A
|
|
|
|
NM_000018.4(ACADVL):c.1434+20G>C
|
|
|
|
NM_000018.4(ACADVL):c.1434+20G>T
|
|
|
|
NM_000018.4(ACADVL):c.1434+6_1434+8dup
|
|
|
|
NM_000018.4(ACADVL):c.1435-15C>A
|
|
|
|
NM_000018.4(ACADVL):c.1435-15C>T
|
rs548935465
|
|
|
NM_000018.4(ACADVL):c.1435-16C>T
|
|
|
|
NM_000018.4(ACADVL):c.1435-19G>A
|
rs1223218362
|
|
|
NM_000018.4(ACADVL):c.1435-19G>T
|
|
|
|
NM_000018.4(ACADVL):c.1435-20T>C
|
|
|
|
NM_000018.4(ACADVL):c.1435-4A>G
|
|
|
|
NM_000018.4(ACADVL):c.1435-4A>T
|
rs1412310624
|
|
|
NM_000018.4(ACADVL):c.1435-4del
|
|
|
|
NM_000018.4(ACADVL):c.1435-5C>T
|
|
|
|
NM_000018.4(ACADVL):c.1435-9C>A
|
rs1280800189
|
|
|
NM_000018.4(ACADVL):c.1435-9C>T
|
rs1280800189
|
|
|
NM_000018.4(ACADVL):c.1437C>T (p.Asp479=)
|
rs779807335
|
|
|
NM_000018.4(ACADVL):c.1446G>A (p.Lys482=)
|
|
|
|
NM_000018.4(ACADVL):c.1452C>T (p.Leu484=)
|
rs1555528820
|
|
|
NM_000018.4(ACADVL):c.1455T>C (p.Ser485=)
|
|
|
|
NM_000018.4(ACADVL):c.1464C>G (p.Gly488=)
|
|
|
|
NM_000018.4(ACADVL):c.1467T>C (p.Ser489=)
|
|
|
|
NM_000018.4(ACADVL):c.1476G>A (p.Lys492=)
|
rs764757180
|
|
|
NM_000018.4(ACADVL):c.1482C>T (p.Pro494=)
|
rs2071364748
|
|
|
NM_000018.4(ACADVL):c.1503G>C (p.Leu501=)
|
rs2142987026
|
|
|
NM_000018.4(ACADVL):c.1527G>A (p.Leu509=)
|
rs1447518560
|
|
|
NM_000018.4(ACADVL):c.1530G>A (p.Arg510=)
|
rs2142987170
|
|
|
NM_000018.4(ACADVL):c.1532+10G>A
|
rs775913504
|
|
|
NM_000018.4(ACADVL):c.1532+19C>T
|
|
|
|
NM_000018.4(ACADVL):c.1532+20C>G
|
rs1291717212
|
|
|
NM_000018.4(ACADVL):c.1532+7T>A
|
rs534469222
|
|
|
NM_000018.4(ACADVL):c.1532+7T>C
|
rs534469222
|
|
|
NM_000018.4(ACADVL):c.1533-12T>C
|
|
|
|
NM_000018.4(ACADVL):c.1533-13C>T
|
|
|
|
NM_000018.4(ACADVL):c.1533-15C>T
|
rs2142987494
|
|
|
NM_000018.4(ACADVL):c.1533-4T>C
|
|
|
|
NM_000018.4(ACADVL):c.1533-6T>C
|
|
|
|
NM_000018.4(ACADVL):c.1533-7del
|
|
|
|
NM_000018.4(ACADVL):c.1536G>A (p.Arg512=)
|
|
|
|
NM_000018.4(ACADVL):c.1536G>C (p.Arg512=)
|
|
|
|
NM_000018.4(ACADVL):c.1557G>A (p.Leu519=)
|
|
|
|
NM_000018.4(ACADVL):c.156A>C (p.Ser52=)
|
|
|
|
NM_000018.4(ACADVL):c.156A>G (p.Ser52=)
|
|
|
|
NM_000018.4(ACADVL):c.1572T>C (p.Leu524=)
|
|
|
|
NM_000018.4(ACADVL):c.1585T>C (p.Leu529=)
|
rs2142987882
|
|
|
NM_000018.4(ACADVL):c.1605+11A>T
|
|
|
|
NM_000018.4(ACADVL):c.1605+12G>A
|
|
|
|
NM_000018.4(ACADVL):c.1605+13G>A
|
|
|
|
NM_000018.4(ACADVL):c.1605+15G>T
|
|
|
|
NM_000018.4(ACADVL):c.1605+20G>A
|
|
|
|
NM_000018.4(ACADVL):c.1605+8G>A
|
rs1329414728
|
|
|
NM_000018.4(ACADVL):c.1605+9C>T
|
rs1370192669
|
|
|
NM_000018.4(ACADVL):c.1606-11C>T
|
|
|
|
NM_000018.4(ACADVL):c.1606-16G>A
|
|
|
|
NM_000018.4(ACADVL):c.1606-17T>C
|
|
|
|
NM_000018.4(ACADVL):c.1606-19A>G
|
|
|
|
NM_000018.4(ACADVL):c.1606-5T>C
|
|
|
|
NM_000018.4(ACADVL):c.1606-5_1606-4del
|
|
|
|
NM_000018.4(ACADVL):c.1620G>A (p.Leu540=)
|
|
|
|
NM_000018.4(ACADVL):c.1623G>A (p.Glu541=)
|
|
|
|
NM_000018.4(ACADVL):c.162C>T (p.Ser54=)
|
rs2142964086
|
|
|
NM_000018.4(ACADVL):c.1638G>C (p.Val546=)
|
rs2142988749
|
|
|
NM_000018.4(ACADVL):c.1641G>A (p.Val547=)
|
|
|
|
NM_000018.4(ACADVL):c.1644G>A (p.Glu548=)
|
rs2071384402
|
|
|
NM_000018.4(ACADVL):c.1650G>A (p.Lys550=)
|
|
|
|
NM_000018.4(ACADVL):c.165C>T (p.His55=)
|
rs1303022654
|
|
|
NM_000018.4(ACADVL):c.1662C>T (p.His554=)
|
|
|
|
NM_000018.4(ACADVL):c.1668G>A (p.Lys556=)
|
rs1295605212
|
|
|
NM_000018.4(ACADVL):c.1678+14A>G
|
|
|
|
NM_000018.4(ACADVL):c.1678+17C>G
|
rs776565824
|
|
|
NM_000018.4(ACADVL):c.1678+17C>T
|
|
|
|
NM_000018.4(ACADVL):c.1678+18C>T
|
|
|
|
NM_000018.4(ACADVL):c.1678+7G>A
|
rs771685940
|
|
|
NM_000018.4(ACADVL):c.1678+9_1678+10delinsAG
|
rs2142989035
|
|
|
NM_000018.4(ACADVL):c.1678+9_1678+10delinsCG
|
rs2142989035
|
|
|
NM_000018.4(ACADVL):c.1679-10T>C
|
|
|
|
NM_000018.4(ACADVL):c.1679-11C>G
|
|
|
|
NM_000018.4(ACADVL):c.1679-13A>C
|
rs768421738
|
|
|
NM_000018.4(ACADVL):c.1679-13A>G
|
|
|
|
NM_000018.4(ACADVL):c.1679-16C>G
|
|
|
|
NM_000018.4(ACADVL):c.1679-18A>C
|
|
|
|
NM_000018.4(ACADVL):c.1679-19C>T
|
|
|
|
NM_000018.4(ACADVL):c.1679-5G>A
|
rs1302758825
|
|
|
NM_000018.4(ACADVL):c.1679-5del
|
rs1555528999
|
|
|
NM_000018.4(ACADVL):c.1679-7C>T
|
rs776276526
|
|
|
NM_000018.4(ACADVL):c.1683A>G (p.Glu561=)
|
rs1597539259
|
|
|
NM_000018.4(ACADVL):c.168C>A (p.Pro56=)
|
|
|
|
NM_000018.4(ACADVL):c.168C>T (p.Pro56=)
|
rs544122648
|
|
|
NM_000018.4(ACADVL):c.1693C>T (p.Leu565=)
|
rs2142989804
|
|
|
NM_000018.4(ACADVL):c.1695G>T (p.Leu565=)
|
rs1279657316
|
|
|
NM_000018.4(ACADVL):c.1704G>A (p.Leu568=)
|
rs2142989842
|
|
|
NM_000018.4(ACADVL):c.1707A>C (p.Ala569=)
|
|
|
|
NM_000018.4(ACADVL):c.1716C>G (p.Ala572=)
|
|
|
|
NM_000018.4(ACADVL):c.1716C>T (p.Ala572=)
|
rs2142989897
|
|
|
NM_000018.4(ACADVL):c.171T>A (p.Ser57=)
|
|
|
|
NM_000018.4(ACADVL):c.1722C>T (p.Asp574=)
|
rs2142989956
|
|
|
NM_000018.4(ACADVL):c.1728T>C (p.Tyr576=)
|
|
|
|
NM_000018.4(ACADVL):c.1740G>T (p.Val580=)
|
|
|
|
NM_000018.4(ACADVL):c.1746C>T (p.Leu582=)
|
|
|
|
NM_000018.4(ACADVL):c.1749G>A (p.Ser583=)
|
rs771471327
|
|
|
NM_000018.4(ACADVL):c.174C>T (p.Asp58=)
|
|
|
|
NM_000018.4(ACADVL):c.1751+12G>C
|
|
|
|
NM_000018.4(ACADVL):c.1751+16G>C
|
|
|
|
NM_000018.4(ACADVL):c.1751+16G>T
|
|
|
|
NM_000018.4(ACADVL):c.1751+7A>G
|
|
|
|
NM_000018.4(ACADVL):c.1751+7_1751+9del
|
|
|
|
NM_000018.4(ACADVL):c.1751+9G>C
|
|
|
|
NM_000018.4(ACADVL):c.1752-10T>C
|
|
|
|
NM_000018.4(ACADVL):c.1752-14C>T
|
|
|
|
NM_000018.4(ACADVL):c.1752-15C>G
|
|
|
|
NM_000018.4(ACADVL):c.1752-19A>G
|
|
|
|
NM_000018.4(ACADVL):c.1752-19A>T
|
|
|
|
NM_000018.4(ACADVL):c.1752-20C>A
|
|
|
|
NM_000018.4(ACADVL):c.1752-4C>T
|
|
|
|
NM_000018.4(ACADVL):c.1752-5G>A
|
|
|
|
NM_000018.4(ACADVL):c.1752-8C>A
|
|
|
|
NM_000018.4(ACADVL):c.1755C>T (p.Ala585=)
|
rs886038215
|
|
|
NM_000018.4(ACADVL):c.1764C>T (p.Ser588=)
|
|
|
|
NM_000018.4(ACADVL):c.1770T>C (p.Ser590=)
|
|
|
|
NM_000018.4(ACADVL):c.1773G>A (p.Glu591=)
|
|
|
|
NM_000018.4(ACADVL):c.1776C>T (p.Gly592=)
|
|
|
|
NM_000018.4(ACADVL):c.1782C>G (p.Pro594=)
|
rs1373644425
|
|
|
NM_000018.4(ACADVL):c.1788C>G (p.Ala596=)
|
rs1597540282
|
|
|
NM_000018.4(ACADVL):c.1806C>G (p.Leu602=)
|
|
|
|
NM_000018.4(ACADVL):c.180G>A (p.Leu60=)
|
|
|
|
NM_000018.4(ACADVL):c.180G>C (p.Leu60=)
|
rs886053372
|
|
|
NM_000018.4(ACADVL):c.1815C>G (p.Thr605=)
|
rs2142990923
|
|
|
NM_000018.4(ACADVL):c.1815C>T (p.Thr605=)
|
rs2142990923
|
|
|
NM_000018.4(ACADVL):c.1821T>C (p.Cys607=)
|
|
|
|
NM_000018.4(ACADVL):c.1828-14T>C
|
|
|
|
NM_000018.4(ACADVL):c.1828-17T>G
|
|
|
|
NM_000018.4(ACADVL):c.1828-18C>G
|
|
|
|
NM_000018.4(ACADVL):c.1828-4C>A
|
|
|
|
NM_000018.4(ACADVL):c.1828-7_1828-5dup
|
|
|
|
NM_000018.4(ACADVL):c.1839G>T (p.Arg613=)
|
|
|
|
NM_000018.4(ACADVL):c.1857C>G (p.Ala619=)
|
rs375730795
|
|
|
NM_000018.4(ACADVL):c.1861C>T (p.Leu621=)
|
|
|
|
NM_000018.4(ACADVL):c.1872C>T (p.Asp624=)
|
|
|
|
NM_000018.4(ACADVL):c.1875C>A (p.Pro625=)
|
|
|
|
NM_000018.4(ACADVL):c.1875C>G (p.Pro625=)
|
rs2071410938
|
|
|
NM_000018.4(ACADVL):c.1881G>A (p.Gln627=)
|
rs931018661
|
|
|
NM_000018.4(ACADVL):c.1887G>A (p.Glu629=)
|
|
|
|
NM_000018.4(ACADVL):c.1890C>G (p.Leu630=)
|
|
|
|
NM_000018.4(ACADVL):c.1899C>T (p.Asn633=)
|
rs2142991198
|
|
|
NM_000018.4(ACADVL):c.189A>G (p.Lys63=)
|
rs727503790
|
|
|
NM_000018.4(ACADVL):c.1908C>T (p.Ser636=)
|
|
|
|
NM_000018.4(ACADVL):c.1911C>T (p.Ile637=)
|
rs2142991217
|
|
|
NM_000018.4(ACADVL):c.1914C>A (p.Ser638=)
|
|
|
|
NM_000018.4(ACADVL):c.1917G>A (p.Lys639=)
|
|
|
|
NM_000018.4(ACADVL):c.1921T>C (p.Leu641=)
|
|
|
|
NM_000018.4(ACADVL):c.1929G>A (p.Glu643=)
|
rs1208010882
|
|
|
NM_000018.4(ACADVL):c.192A>G (p.Lys64=)
|
rs2071148553
|
|
|
NM_000018.4(ACADVL):c.1932G>C (p.Arg644=)
|
rs886053375
|
|
|
NM_000018.4(ACADVL):c.1941G>A (p.Val647=)
|
rs2142991254
|
|
|
NM_000018.4(ACADVL):c.1944C>T (p.Val648=)
|
rs1171256173
|
|
|
NM_000018.4(ACADVL):c.1953C>T (p.Asn651=)
|
rs1417091241
|
|
|
NM_000018.4(ACADVL):c.1956A>G (p.Pro652=)
|
rs2071415834
|
|
|
NM_000018.4(ACADVL):c.198C>T (p.Ala66=)
|
rs2142964530
|
|
|
NM_000018.4(ACADVL):c.204+11C>A
|
|
|
|
NM_000018.4(ACADVL):c.204+12C>A
|
|
|
|
NM_000018.4(ACADVL):c.204+12C>G
|
|
|
|
NM_000018.4(ACADVL):c.204+12C>T
|
|
|
|
NM_000018.4(ACADVL):c.204+13G>C
|
|
|
|
NM_000018.4(ACADVL):c.204+14A>G
|
|
|
|
NM_000018.4(ACADVL):c.204+18C>A
|
|
|
|
NM_000018.4(ACADVL):c.204+18C>T
|
rs2071151141
|
|
|
NM_000018.4(ACADVL):c.204+19A>G
|
|
|
|
NM_000018.4(ACADVL):c.204+19A>T
|
|
|
|
NM_000018.4(ACADVL):c.204+8G>T
|
|
|
|
NM_000018.4(ACADVL):c.204+9C>T
|
|
|
|
NM_000018.4(ACADVL):c.205-10C>T
|
rs2142965181
|
|
|
NM_000018.4(ACADVL):c.205-12C>T
|
rs2142965144
|
|
|
NM_000018.4(ACADVL):c.205-20A>C
|
|
|
|
NM_000018.4(ACADVL):c.205-3dup
|
rs2142965291
|
|
|
NM_000018.4(ACADVL):c.205-5C>T
|
|
|
|
NM_000018.4(ACADVL):c.205-6G>C
|
|
|
|
NM_000018.4(ACADVL):c.205-6G>T
|
|
|
|
NM_000018.4(ACADVL):c.205-8_205-7delinsGC
|
rs2142965218
|
|
|
NM_000018.4(ACADVL):c.210T>G (p.Ser70=)
|
|
|
|
NM_000018.4(ACADVL):c.216C>G (p.Ser72=)
|
|
|
|
NM_000018.4(ACADVL):c.222T>C (p.Ala74=)
|
|
|
|
NM_000018.4(ACADVL):c.234C>T (p.Phe78=)
|
rs2142965570
|
|
|
NM_000018.4(ACADVL):c.243G>A (p.Gln81=)
|
rs1318553246
|
|
|
NM_000018.4(ACADVL):c.24G>A (p.Ala8=)
|
|
|
|
NM_000018.4(ACADVL):c.24G>C (p.Ala8=)
|
rs903824712
|
|
|
NM_000018.4(ACADVL):c.252A>C (p.Thr84=)
|
|
|
|
NM_000018.4(ACADVL):c.258G>A (p.Gln86=)
|
|
|
|
NM_000018.4(ACADVL):c.273G>C (p.Pro91=)
|
rs778993830
|
|
|
NM_000018.4(ACADVL):c.277+10G>A
|
rs1597519525
|
|
|
NM_000018.4(ACADVL):c.277+11G>A
|
|
|
|
NM_000018.4(ACADVL):c.277+14T>A
|
|
|
|
NM_000018.4(ACADVL):c.277+18C>A
|
rs2142966096
|
|
|
NM_000018.4(ACADVL):c.277+9del
|
|
|
|
NM_000018.4(ACADVL):c.278-10C>T
|
rs2071166695
|
|
|
NM_000018.4(ACADVL):c.278-12C>A
|
|
|
|
NM_000018.4(ACADVL):c.278-12C>G
|
|
|
|
NM_000018.4(ACADVL):c.278-14C>T
|
|
|
|
NM_000018.4(ACADVL):c.278-15C>T
|
|
|
|
NM_000018.4(ACADVL):c.278-16C>A
|
rs1428008149
|
|
|
NM_000018.4(ACADVL):c.278-16C>T
|
rs1428008149
|
|
|
NM_000018.4(ACADVL):c.278-18G>A
|
|
|
|
NM_000018.4(ACADVL):c.278-18G>T
|
|
|
|
NM_000018.4(ACADVL):c.278-20C>T
|
|
|
|
NM_000018.4(ACADVL):c.278-31_278-18del
|
rs2071164779
|
|
|
NM_000018.4(ACADVL):c.278-4G>A
|
rs2142966745
|
|
|
NM_000018.4(ACADVL):c.278-9C>T
|
|
|
|
NM_000018.4(ACADVL):c.27C>T (p.Ser9=)
|
|
|
|
NM_000018.4(ACADVL):c.28T>C (p.Leu10=)
|
rs1265116066
|
|
|
NM_000018.4(ACADVL):c.294G>A (p.Gln98=)
|
rs794727695
|
|
|
NM_000018.4(ACADVL):c.309A>G (p.Lys103=)
|
rs2142967187
|
|
|
NM_000018.4(ACADVL):c.30G>A (p.Leu10=)
|
rs2142959363
|
|
|
NM_000018.4(ACADVL):c.312G>A (p.Glu104=)
|
|
|
|
NM_000018.4(ACADVL):c.315G>T (p.Leu105=)
|
rs754620326
|
|
|
NM_000018.4(ACADVL):c.324T>C (p.Pro108=)
|
rs764628802
|
|
|
NM_000018.4(ACADVL):c.324T>G (p.Pro108=)
|
rs764628802
|
|
|
NM_000018.4(ACADVL):c.327G>A (p.Val109=)
|
|
|
|
NM_000018.4(ACADVL):c.330C>T (p.Ser110=)
|
|
|
|
NM_000018.4(ACADVL):c.333T>C (p.Arg111=)
|
rs2142967414
|
|
|
NM_000018.4(ACADVL):c.336C>T (p.Phe112=)
|
rs537031882
|
|
|
NM_000018.4(ACADVL):c.342+10G>A
|
|
|
|
NM_000018.4(ACADVL):c.342+12C>G
|
|
|
|
NM_000018.4(ACADVL):c.342+17G>C
|
|
|
|
NM_000018.4(ACADVL):c.342+17G>T
|
rs368213180
|
|
|
NM_000018.4(ACADVL):c.343-10C>A
|
rs2142968470
|
|
|
NM_000018.4(ACADVL):c.343-10C>T
|
rs2142968470
|
|
|
NM_000018.4(ACADVL):c.343-11G>C
|
|
|
|
NM_000018.4(ACADVL):c.343-15C>T
|
|
|
|
NM_000018.4(ACADVL):c.343-20G>C
|
|
|
|
NM_000018.4(ACADVL):c.343-6C>T
|
|
|
|
NM_000018.4(ACADVL):c.343-7T>C
|
rs2142968501
|
|
|
NM_000018.4(ACADVL):c.343-8T>A
|
|
|
|
NM_000018.4(ACADVL):c.348G>A (p.Val116=)
|
|
|
|
NM_000018.4(ACADVL):c.351C>T (p.Asn117=)
|
rs779745734
|
|
|
NM_000018.4(ACADVL):c.357C>G (p.Pro119=)
|
|
|
|
NM_000018.4(ACADVL):c.357C>T (p.Pro119=)
|
rs1443253379
|
|
|
NM_000018.4(ACADVL):c.363G>A (p.Lys121=)
|
rs768219726
|
|
|
NM_000018.4(ACADVL):c.366T>C (p.Asn122=)
|
|
|
|
NM_000018.4(ACADVL):c.372T>C (p.Ala124=)
|
rs2142968911
|
|
|
NM_000018.4(ACADVL):c.375G>A (p.Leu125=)
|
|
|
|
NM_000018.4(ACADVL):c.384G>A (p.Val128=)
|
|
|
|
NM_000018.4(ACADVL):c.387G>A (p.Glu129=)
|
|
|
|
NM_000018.4(ACADVL):c.390G>A (p.Glu130=)
|
rs2142969071
|
|
|
NM_000018.4(ACADVL):c.393C>T (p.Thr131=)
|
rs754931255
|
|
|
NM_000018.4(ACADVL):c.396T>C (p.Thr132=)
|
rs1202646536
|
|
|
NM_000018.4(ACADVL):c.396T>G (p.Thr132=)
|
rs1202646536
|
|
|
NM_000018.4(ACADVL):c.39G>A (p.Gln13=)
|
rs1481490993
|
|
|
NM_000018.4(ACADVL):c.402G>A (p.Gln134=)
|
rs2142969249
|
|
|
NM_000018.4(ACADVL):c.411G>A (p.Lys137=)
|
rs2142969322
|
|
|
NM_000018.4(ACADVL):c.414G>A (p.Glu138=)
|
rs767727881
|
|
|
NM_000018.4(ACADVL):c.417G>A (p.Leu139=)
|
|
|
|
NM_000018.4(ACADVL):c.432G>A (p.Leu144=)
|
rs778968978
|
|
|
NM_000018.4(ACADVL):c.438G>A (p.Val146=)
|
|
|
|
NM_000018.4(ACADVL):c.444T>C (p.Ser148=)
|
rs2142969724
|
|
|
NM_000018.4(ACADVL):c.447G>A (p.Glu149=)
|
rs2142969733
|
|
|
NM_000018.4(ACADVL):c.450G>A (p.Leu150=)
|
|
|
|
NM_000018.4(ACADVL):c.459G>A (p.Val153=)
|
rs2142969815
|
|
|
NM_000018.4(ACADVL):c.465T>C (p.Leu155=)
|
|
|
|
NM_000018.4(ACADVL):c.471C>T (p.Asn157=)
|
|
|
|
NM_000018.4(ACADVL):c.477+12C>T
|
|
|
|
NM_000018.4(ACADVL):c.477+15T>G
|
|
|
|
NM_000018.4(ACADVL):c.477+17G>A
|
rs375076326
|
|
|
NM_000018.4(ACADVL):c.477+17G>T
|
|
|
|
NM_000018.4(ACADVL):c.477+20A>G
|
|
|
|
NM_000018.4(ACADVL):c.477+7G>A
|
rs1279805508
|
|
|
NM_000018.4(ACADVL):c.477+7G>T
|
rs1279805508
|
|
|
NM_000018.4(ACADVL):c.478-11T>C
|
|
|
|
NM_000018.4(ACADVL):c.478-13G>A
|
|
|
|
NM_000018.4(ACADVL):c.478-13G>C
|
|
|
|
NM_000018.4(ACADVL):c.478-16C>G
|
|
|
|
NM_000018.4(ACADVL):c.478-20G>C
|
rs746194631
|
|
|
NM_000018.4(ACADVL):c.478-4C>T
|
|
|
|
NM_000018.4(ACADVL):c.478-6C>T
|
rs2142973845
|
|
|
NM_000018.4(ACADVL):c.478-7C>T
|
|
|
|
NM_000018.4(ACADVL):c.478-8C>T
|
|
|
|
NM_000018.4(ACADVL):c.492G>A (p.Val164=)
|
|
|
|
NM_000018.4(ACADVL):c.498C>A (p.Ile166=)
|
rs370565071
|
|
|
NM_000018.4(ACADVL):c.498C>T (p.Ile166=)
|
rs370565071
|
|
|
NM_000018.4(ACADVL):c.501G>A (p.Val167=)
|
rs2142974194
|
|
|
NM_000018.4(ACADVL):c.501G>C (p.Val167=)
|
rs2142974194
|
|
|
NM_000018.4(ACADVL):c.504C>T (p.Gly168=)
|
|
|
|
NM_000018.4(ACADVL):c.510T>C (p.His170=)
|
|
|
|
NM_000018.4(ACADVL):c.51C>G (p.Leu17=)
|
|
|
|
NM_000018.4(ACADVL):c.531C>G (p.Thr177=)
|
rs2071228805
|
|
|
NM_000018.4(ACADVL):c.537G>A (p.Gly179=)
|
rs1597525140
|
|
|
NM_000018.4(ACADVL):c.564C>G (p.Gly188=)
|
|
|
|
NM_000018.4(ACADVL):c.567C>T (p.Ile189=)
|
rs2142974641
|
|
|
NM_000018.4(ACADVL):c.579C>T (p.Gly193=)
|
|
|
|
NM_000018.4(ACADVL):c.582A>C (p.Thr194=)
|
rs113891941
|
|
|
NM_000018.4(ACADVL):c.582A>G (p.Thr194=)
|
rs113891941
|
|
|
NM_000018.4(ACADVL):c.603C>T (p.Tyr201=)
|
|
|
|
NM_000018.4(ACADVL):c.609C>A (p.Pro203=)
|
rs2142975004
|
|
|
NM_000018.4(ACADVL):c.609C>T (p.Pro203=)
|
rs2142975004
|
|
|
NM_000018.4(ACADVL):c.612G>A (p.Lys204=)
|
rs149836890
|
|
|
NM_000018.4(ACADVL):c.613C>T (p.Leu205=)
|
|
|
|
NM_000018.4(ACADVL):c.62+10del
|
rs1251002707
|
|
|
NM_000018.4(ACADVL):c.62+11G>A
|
rs754789048
|
|
|
NM_000018.4(ACADVL):c.62+12_62+21del
|
rs2142959968
|
|
|
NM_000018.4(ACADVL):c.62+13C>T
|
|
|
|
NM_000018.4(ACADVL):c.62+16G>A
|
|
|
|
NM_000018.4(ACADVL):c.62+4TG[2]
|
|
|
|
NM_000018.4(ACADVL):c.62+4TG[3]
|
rs777656865
|
|
|
NM_000018.4(ACADVL):c.622+13T>C
|
|
|
|
NM_000018.4(ACADVL):c.622+14A>G
|
rs2071235916
|
|
|
NM_000018.4(ACADVL):c.622+14del
|
|
|
|
NM_000018.4(ACADVL):c.622+15G>A
|
|
|
|
NM_000018.4(ACADVL):c.622+19_622+20del
|
|
|
|
NM_000018.4(ACADVL):c.622+19del
|
|
|
|
NM_000018.4(ACADVL):c.622+20G>C
|
|
|
|
NM_000018.4(ACADVL):c.623-11C>T
|
|
|
|
NM_000018.4(ACADVL):c.623-14T>C
|
rs2142976404
|
|
|
NM_000018.4(ACADVL):c.623-20A>G
|
|
|
|
NM_000018.4(ACADVL):c.623-21A>G
|
|
|
|
NM_000018.4(ACADVL):c.623-7C>T
|
|
|
|
NM_000018.4(ACADVL):c.624G>A (p.Gly208=)
|
rs2142976497
|
|
|
NM_000018.4(ACADVL):c.63-10C>T
|
rs2142960638
|
|
|
NM_000018.4(ACADVL):c.63-16C>A
|
|
|
|
NM_000018.4(ACADVL):c.63-16C>G
|
|
|
|
NM_000018.4(ACADVL):c.63-16C>T
|
|
|
|
NM_000018.4(ACADVL):c.63-17A>T
|
rs1597516059
|
|
|
NM_000018.4(ACADVL):c.63-4A>G
|
rs2142960681
|
|
|
NM_000018.4(ACADVL):c.63-5C>T
|
|
|
|
NM_000018.4(ACADVL):c.63-7C>T
|
|
|
|
NM_000018.4(ACADVL):c.63-8C>T
|
rs2142960652
|
|
|
NM_000018.4(ACADVL):c.633G>A (p.Val211=)
|
|
|
|
NM_000018.4(ACADVL):c.645T>C (p.Cys215=)
|
|
|
|
NM_000018.4(ACADVL):c.660A>C (p.Ser220=)
|
rs2142976731
|
|
|
NM_000018.4(ACADVL):c.666G>A (p.Gly222=)
|
rs755458311
|
|
|
NM_000018.4(ACADVL):c.669A>G (p.Ser223=)
|
|
|
|
NM_000018.4(ACADVL):c.675A>G (p.Ala225=)
|
rs1367195566
|
|
|
NM_000018.4(ACADVL):c.675A>T (p.Ala225=)
|
|
|
|
NM_000018.4(ACADVL):c.678C>A (p.Ala226=)
|
rs372114185
|
|
|
NM_000018.4(ACADVL):c.678C>T (p.Ala226=)
|
rs372114185
|
|
|
NM_000018.4(ACADVL):c.681C>T (p.Ser227=)
|
|
|
|
NM_000018.4(ACADVL):c.693T>C (p.Ser231=)
|
rs77763289
|
|
|
NM_000018.4(ACADVL):c.696T>C (p.Ala232=)
|
|
|
|
NM_000018.4(ACADVL):c.699G>A (p.Val233=)
|
rs1244500033
|
|
|
NM_000018.4(ACADVL):c.69G>A (p.Arg23=)
|
|
|
|
NM_000018.4(ACADVL):c.702C>G (p.Pro234=)
|
rs2142976946
|
|
|
NM_000018.4(ACADVL):c.708C>T (p.Pro236=)
|
rs2142976976
|
|
|
NM_000018.4(ACADVL):c.711T>C (p.Cys237=)
|
|
|
|
NM_000018.4(ACADVL):c.720C>T (p.Tyr240=)
|
|
|
|
NM_000018.4(ACADVL):c.726C>T (p.Thr242=)
|
rs972997485
|
|
|
NM_000018.4(ACADVL):c.732T>C (p.Asn244=)
|
rs1567564195
|
|
|
NM_000018.4(ACADVL):c.741G>A (p.Lys247=)
|
|
|
|
NM_000018.4(ACADVL):c.752+10C>T
|
rs200176128
|
|
|
NM_000018.4(ACADVL):c.752+12C>G
|
|
|
|
NM_000018.4(ACADVL):c.752+14C>T
|
|
|
|
NM_000018.4(ACADVL):c.752+18T>A
|
rs928947852
|
|
|
NM_000018.4(ACADVL):c.752+20T>A
|
|
|
|
NM_000018.4(ACADVL):c.752+9C>T
|
|
|
|
NM_000018.4(ACADVL):c.753-13C>T
|
|
|
|
NM_000018.4(ACADVL):c.753-15C>T
|
|
|
|
NM_000018.4(ACADVL):c.753-8T>C
|
|
|
|
NM_000018.4(ACADVL):c.753-9C>A
|
|
|
|
NM_000018.4(ACADVL):c.753-9C>G
|
rs1262931604
|
|
|
NM_000018.4(ACADVL):c.753-9C>T
|
rs1262931604
|
|
|
NM_000018.4(ACADVL):c.75G>T (p.Thr25=)
|
rs2142960838
|
|
|
NM_000018.4(ACADVL):c.765A>G (p.Leu255=)
|
|
|
|
NM_000018.4(ACADVL):c.777C>T (p.Phe259=)
|
|
|
|
NM_000018.4(ACADVL):c.780G>C (p.Thr260=)
|
rs140871321
|
|
|
NM_000018.4(ACADVL):c.780G>T (p.Thr260=)
|
rs140871321
|
|
|
NM_000018.4(ACADVL):c.783C>T (p.Val261=)
|
rs1309345559
|
|
|
NM_000018.4(ACADVL):c.816A>G (p.Thr272=)
|
|
|
|
NM_000018.4(ACADVL):c.81C>G (p.Leu27=)
|
|
|
|
NM_000018.4(ACADVL):c.834G>A (p.Lys278=)
|
|
|
|
NM_000018.4(ACADVL):c.843T>A (p.Ala281=)
|
|
|
|
NM_000018.4(ACADVL):c.843T>C (p.Ala281=)
|
|
|
|
NM_000018.4(ACADVL):c.849G>A (p.Val283=)
|
|
|
|
NM_000018.4(ACADVL):c.84G>A (p.Leu28=)
|
|
|
|
NM_000018.4(ACADVL):c.855G>A (p.Glu285=)
|
rs201509063
|
|
|
NM_000018.4(ACADVL):c.861C>G (p.Gly287=)
|
rs2142978212
|
|
|
NM_000018.4(ACADVL):c.861C>T (p.Gly287=)
|
rs2142978212
|
|
|
NM_000018.4(ACADVL):c.867G>A (p.Gly289=)
|
rs745557512
|
|
|
NM_000018.4(ACADVL):c.876C>G (p.Thr292=)
|
|
|
|
NM_000018.4(ACADVL):c.878+10T>C
|
|
|
|
NM_000018.4(ACADVL):c.878+11T>G
|
|
|
|
NM_000018.4(ACADVL):c.878+18G>A
|
|
|
|
NM_000018.4(ACADVL):c.878+18G>T
|
|
|
|
NM_000018.4(ACADVL):c.878+34G>A
|
|
|
|
NM_000018.4(ACADVL):c.879-10C>T
|
|
|
|
NM_000018.4(ACADVL):c.879-13T>C
|
|
|
|
NM_000018.4(ACADVL):c.879-15A>G
|
|
|
|
NM_000018.4(ACADVL):c.879-17A>G
|
|
|
|
NM_000018.4(ACADVL):c.879-18C>T
|
|
|
|
NM_000018.4(ACADVL):c.879-19C>T
|
rs754490495
|
|
|
NM_000018.4(ACADVL):c.879-20C>T
|
|
|
|
NM_000018.4(ACADVL):c.879-7G>C
|
rs2142979711
|
|
|
NM_000018.4(ACADVL):c.882G>C (p.Gly294=)
|
|
|
|
NM_000018.4(ACADVL):c.885C>A (p.Pro295=)
|
rs1567565243
|
|
|
NM_000018.4(ACADVL):c.891G>A (p.Glu297=)
|
|
|
|
NM_000018.4(ACADVL):c.906C>T (p.Ile302=)
|
|
|
|
NM_000018.4(ACADVL):c.909G>A (p.Lys303=)
|
rs2142979945
|
|
|
NM_000018.4(ACADVL):c.921A>C (p.Thr307=)
|
|
|
|
NM_000018.4(ACADVL):c.924A>G (p.Ala308=)
|
|
|
|
NM_000018.4(ACADVL):c.927G>A (p.Glu309=)
|
|
|
|
NM_000018.4(ACADVL):c.942A>C (p.Gly314=)
|
rs2142980069
|
|
|
NM_000018.4(ACADVL):c.948G>A (p.Arg316=)
|
|
|
|
NM_000018.4(ACADVL):c.96G>A (p.Arg32=)
|
rs1243371051
|
|
|
NM_000018.4(ACADVL):c.972T>C (p.Gly324=)
|
rs1555528483
|
|
|
NM_000018.4(ACADVL):c.981G>C (p.Gly327=)
|
rs527421619
|
|
|
NM_000018.4(ACADVL):c.99C>T (p.Pro33=)
|
|
|
|
NM_000018.4(ACADVL):c.9G>A (p.Ala3=)
|
|
|
|
NM_000018.4(ACADVL):c.9G>C (p.Ala3=)
|
|
|
|
NM_000023.4(SGCA):c.1011C>A (p.Ile337=)
|
rs1209145667
|
|
|
NM_000023.4(SGCA):c.1033C>A (p.Arg345=)
|
|
|
|
NM_000023.4(SGCA):c.1044G>A (p.Ala348=)
|
rs768722155
|
|
|
NM_000023.4(SGCA):c.1044G>T (p.Ala348=)
|
|
|
|
NM_000023.4(SGCA):c.1047C>G (p.Ala349=)
|
rs199518562
|
|
|
NM_000023.4(SGCA):c.1062C>G (p.Pro354=)
|
rs1905845398
|
|
|
NM_000023.4(SGCA):c.1062C>T (p.Pro354=)
|
rs1905845398
|
|
|
NM_000023.4(SGCA):c.1068A>G (p.Pro356=)
|
|
|
|
NM_000023.4(SGCA):c.1071C>T (p.Leu357=)
|
|
|
|
NM_000023.4(SGCA):c.1074C>T (p.Ser358=)
|
|
|
|
NM_000023.4(SGCA):c.1078C>T (p.Leu360=)
|
|
|
|
NM_000023.4(SGCA):c.1080G>A (p.Leu360=)
|
|
|
|
NM_000023.4(SGCA):c.1092T>C (p.Asn364=)
|
|
|
|
NM_000023.4(SGCA):c.1098C>T (p.His366=)
|
rs2144512069
|
|
|
NM_000023.4(SGCA):c.1108C>A (p.Arg370=)
|
rs368243053
|
|
|
NM_000023.4(SGCA):c.1119C>T (p.Pro373=)
|
rs1905853639
|
|
|
NM_000023.4(SGCA):c.1122C>T (p.Arg374=)
|
rs2144512151
|
|
|
NM_000023.4(SGCA):c.1125G>A (p.Val375=)
|
rs2144512161
|
|
|
NM_000023.4(SGCA):c.1134C>A (p.Ala378=)
|
rs1235150688
|
|
|
NM_000023.4(SGCA):c.1146C>T (p.Leu382=)
|
rs1263910576
|
|
|
NM_000023.4(SGCA):c.1163G>A (p.Ter388=)
|
rs2144512285
|
|
|
NM_000023.4(SGCA):c.118T>C (p.Leu40=)
|
rs1598264597
|
|
|
NM_000023.4(SGCA):c.129G>A (p.Glu43=)
|
rs2144493407
|
|
|
NM_000023.4(SGCA):c.132G>C (p.Thr44=)
|
|
|
|
NM_000023.4(SGCA):c.132G>T (p.Thr44=)
|
|
|
|
NM_000023.4(SGCA):c.138G>A (p.Leu46=)
|
|
|
|
NM_000023.4(SGCA):c.141C>T (p.Ser47=)
|
rs1336059898
|
|
|
NM_000023.4(SGCA):c.157+15A>C
|
|
|
|
NM_000023.4(SGCA):c.157+16G>C
|
|
|
|
NM_000023.4(SGCA):c.157+20C>A
|
|
|
|
NM_000023.4(SGCA):c.158-10C>G
|
rs746675022
|
|
|
NM_000023.4(SGCA):c.158-11G>T
|
|
|
|
NM_000023.4(SGCA):c.158-7C>T
|
rs2144493874
|
|
|
NM_000023.4(SGCA):c.168C>T (p.Pro56=)
|
rs1193836259
|
|
|
NM_000023.4(SGCA):c.171T>C (p.Ala57=)
|
rs2144493974
|
|
|
NM_000023.4(SGCA):c.174C>T (p.Val58=)
|
rs1167800537
|
|
|
NM_000023.4(SGCA):c.183C>T (p.Thr61=)
|
rs2144494064
|
|
|
NM_000023.4(SGCA):c.18C>T (p.Phe6=)
|
rs2144488335
|
|
|
NM_000023.4(SGCA):c.195C>T (p.His65=)
|
|
|
|
NM_000023.4(SGCA):c.231C>A (p.Arg77=)
|
rs1395463052
|
|
|
NM_000023.4(SGCA):c.234C>T (p.Tyr78=)
|
rs1567739328
|
|
|
NM_000023.4(SGCA):c.237C>G (p.Thr79=)
|
|
|
|
NM_000023.4(SGCA):c.240G>A (p.Gln80=)
|
|
|
|
NM_000023.4(SGCA):c.243C>T (p.Arg81=)
|
|
|
|
NM_000023.4(SGCA):c.246C>T (p.Ser82=)
|
rs1598265282
|
|
|
NM_000023.4(SGCA):c.285A>G (p.Pro95=)
|
|
|
|
NM_000023.4(SGCA):c.291T>C (p.Asp97=)
|
|
|
|
NM_000023.4(SGCA):c.300C>G (p.Leu100=)
|
|
|
|
NM_000023.4(SGCA):c.30C>G (p.Leu10=)
|
|
|
|
NM_000023.4(SGCA):c.312+10G>A
|
rs1905041121
|
|
|
NM_000023.4(SGCA):c.312+16del
|
|
|
|
NM_000023.4(SGCA):c.312+18G>A
|
|
|
|
NM_000023.4(SGCA):c.312+8dup
|
|
|
|
NM_000023.4(SGCA):c.313-17T>G
|
|
|
|
NM_000023.4(SGCA):c.313-18G>A
|
|
|
|
NM_000023.4(SGCA):c.313-18G>T
|
|
|
|
NM_000023.4(SGCA):c.313-19T>G
|
|
|
|
NM_000023.4(SGCA):c.313-4C>T
|
rs2144495185
|
|
|
NM_000023.4(SGCA):c.313-5C>G
|
|
|
|
NM_000023.4(SGCA):c.315C>G (p.Val105=)
|
|
|
|
NM_000023.4(SGCA):c.321C>T (p.Ala107=)
|
|
|
|
NM_000023.4(SGCA):c.330G>A (p.Arg110=)
|
rs2144495293
|
|
|
NM_000023.4(SGCA):c.33C>T (p.Leu11=)
|
rs762704751
|
|
|
NM_000023.4(SGCA):c.342T>C (p.Asp114=)
|
|
|
|
NM_000023.4(SGCA):c.351G>A (p.Arg117=)
|
rs2144495376
|
|
|
NM_000023.4(SGCA):c.363G>A (p.Val121=)
|
|
|
|
NM_000023.4(SGCA):c.366G>C (p.Leu122=)
|
|
|
|
NM_000023.4(SGCA):c.37+11G>A
|
|
|
|
NM_000023.4(SGCA):c.37+20A>G
|
|
|
|
NM_000023.4(SGCA):c.37+9G>T
|
rs2144488503
|
|
|
NM_000023.4(SGCA):c.38-10G>A
|
rs2144492975
|
|
|
NM_000023.4(SGCA):c.38-14T>C
|
|
|
|
NM_000023.4(SGCA):c.38-14del
|
|
|
|
NM_000023.4(SGCA):c.385+10G>A
|
|
|
|
NM_000023.4(SGCA):c.385+11C>T
|
|
|
|
NM_000023.4(SGCA):c.385+15G>A
|
|
|
|
NM_000023.4(SGCA):c.385+16C>T
|
|
|
|
NM_000023.4(SGCA):c.385+17C>T
|
|
|
|
NM_000023.4(SGCA):c.385+7C>G
|
rs2144495517
|
|
|
NM_000023.4(SGCA):c.385+8T>C
|
rs1905072495
|
|
|
NM_000023.4(SGCA):c.386-13C>T
|
|
|
|
NM_000023.4(SGCA):c.386-17C>T
|
|
|
|
NM_000023.4(SGCA):c.386-18T>A
|
|
|
|
NM_000023.4(SGCA):c.386-19G>A
|
|
|
|
NM_000023.4(SGCA):c.386-8C>G
|
|
|
|
NM_000023.4(SGCA):c.386-9C>G
|
|
|
|
NM_000023.4(SGCA):c.386-9C>T
|
rs1905100056
|
|
|
NM_000023.4(SGCA):c.390C>G (p.Pro130=)
|
rs932963471
|
|
|
NM_000023.4(SGCA):c.390C>T (p.Pro130=)
|
rs932963471
|
|
|
NM_000023.4(SGCA):c.393G>A (p.Leu131=)
|
|
|
|
NM_000023.4(SGCA):c.393G>C (p.Leu131=)
|
rs758472374
|
|
|
NM_000023.4(SGCA):c.408C>G (p.Ala136=)
|
rs143551687
|
|
|
NM_000023.4(SGCA):c.417G>T (p.Leu139=)
|
rs375282807
|
|
|
NM_000023.4(SGCA):c.423C>T (p.Arg141=)
|
rs2144496522
|
|
|
NM_000023.4(SGCA):c.438G>A (p.Glu146=)
|
rs1336182341
|
|
|
NM_000023.4(SGCA):c.441G>A (p.Glu147=)
|
rs1211942968
|
|
|
NM_000023.4(SGCA):c.444G>A (p.Val148=)
|
rs1598267119
|
|
|
NM_000023.4(SGCA):c.453A>G (p.Ser151=)
|
|
|
|
NM_000023.4(SGCA):c.45G>C (p.Leu15=)
|
rs2144493029
|
|
|
NM_000023.4(SGCA):c.462C>A (p.Ala154=)
|
|
|
|
NM_000023.4(SGCA):c.468C>G (p.Arg156=)
|
|
|
|
NM_000023.4(SGCA):c.468C>T (p.Arg156=)
|
rs750297310
|
|
|
NM_000023.4(SGCA):c.474C>G (p.Leu158=)
|
rs2144496728
|
|
|
NM_000023.4(SGCA):c.480C>G (p.Ala160=)
|
rs2144496738
|
|
|
NM_000023.4(SGCA):c.480C>T (p.Ala160=)
|
rs2144496738
|
|
|
NM_000023.4(SGCA):c.481T>C (p.Leu161=)
|
|
|
|
NM_000023.4(SGCA):c.486G>A (p.Gly162=)
|
rs1598267271
|
|
|
NM_000023.4(SGCA):c.489A>G (p.Gly163=)
|
rs1198477143
|
|
|
NM_000023.4(SGCA):c.489A>T (p.Gly163=)
|
|
|
|
NM_000023.4(SGCA):c.498G>A (p.Glu166=)
|
rs1598267318
|
|
|
NM_000023.4(SGCA):c.49G>A (p.Gly17Arg)
|
rs573792379
|
|
|
NM_000023.4(SGCA):c.516G>C (p.Leu172=)
|
rs2144496890
|
|
|
NM_000023.4(SGCA):c.519C>T (p.Leu173=)
|
rs1905118125
|
|
|
NM_000023.4(SGCA):c.525C>A (p.Val175=)
|
rs1169044148
|
|
|
NM_000023.4(SGCA):c.535T>C (p.Leu179=)
|
|
|
|
NM_000023.4(SGCA):c.57G>A (p.Gly19=)
|
rs2144493078
|
|
|
NM_000023.4(SGCA):c.584+10C>A
|
|
|
|
NM_000023.4(SGCA):c.584+10C>G
|
rs937459293
|
|
|
NM_000023.4(SGCA):c.584+11A>C
|
|
|
|
NM_000023.4(SGCA):c.584+18G>A
|
|
|
|
NM_000023.4(SGCA):c.584+19A>C
|
|
|
|
NM_000023.4(SGCA):c.584+20G>A
|
|
|
|
NM_000023.4(SGCA):c.584+9G>A
|
|
|
|
NM_000023.4(SGCA):c.585-12A>G
|
|
|
|
NM_000023.4(SGCA):c.585-23C>T
|
|
|
|
NM_000023.4(SGCA):c.585-27C>T
|
|
|
|
NM_000023.4(SGCA):c.585-27del
|
|
|
|
NM_000023.4(SGCA):c.585-28G>A
|
|
|
|
NM_000023.4(SGCA):c.585-29T>G
|
|
|
|
NM_000023.4(SGCA):c.585-30C>G
|
|
|
|
NM_000023.4(SGCA):c.585-32C>A
|
|
|
|
NM_000023.4(SGCA):c.585-33A>G
|
|
|
|
NM_000023.4(SGCA):c.585-5_585-4delinsTG
|
rs2144498044
|
|
|
NM_000023.4(SGCA):c.594T>C (p.Ile198=)
|
rs2144498108
|
|
|
NM_000023.4(SGCA):c.597G>A (p.Lys199=)
|
rs1304471544
|
|
|
NM_000023.4(SGCA):c.603T>C (p.Gly201=)
|
|
|
|
NM_000023.4(SGCA):c.615T>G (p.Pro205=)
|
|
|
|
NM_000023.4(SGCA):c.627C>T (p.Cys209=)
|
|
|
|
NM_000023.4(SGCA):c.633G>A (p.Lys211=)
|
rs2144498199
|
|
|
NM_000023.4(SGCA):c.645C>G (p.Ser215=)
|
|
|
|
NM_000023.4(SGCA):c.651T>C (p.Asp217=)
|
rs2144498247
|
|
|
NM_000023.4(SGCA):c.669C>T (p.Ala223=)
|
|
|
|
NM_000023.4(SGCA):c.675C>T (p.Gly225=)
|
rs773985328
|
|
|
NM_000023.4(SGCA):c.678G>A (p.Gln226=)
|
rs2144498364
|
|
|
NM_000023.4(SGCA):c.681T>C (p.Pro227=)
|
rs1305502363
|
|
|
NM_000023.4(SGCA):c.690G>A (p.Leu230=)
|
rs139454982
|
|
|
NM_000023.4(SGCA):c.706T>C (p.Leu236=)
|
|
|
|
NM_000023.4(SGCA):c.714C>G (p.Pro238=)
|
rs2144498471
|
|
|
NM_000023.4(SGCA):c.717C>T (p.His239=)
|
rs2144498480
|
|
|
NM_000023.4(SGCA):c.723C>T (p.Arg241=)
|
rs750636856
|
|
|
NM_000023.4(SGCA):c.747+13C>G
|
|
|
|
NM_000023.4(SGCA):c.747+14C>A
|
|
|
|
NM_000023.4(SGCA):c.747+17G>A
|
|
|
|
NM_000023.4(SGCA):c.747+19T>C
|
|
|
|
NM_000023.4(SGCA):c.747+20C>T
|
|
|
|
NM_000023.4(SGCA):c.747+9G>A
|
rs1598268788
|
|
|
NM_000023.4(SGCA):c.748-19C>T
|
|
|
|
NM_000023.4(SGCA):c.748-6G>A
|
|
|
|
NM_000023.4(SGCA):c.748-7T>C
|
|
|
|
NM_000023.4(SGCA):c.762G>A (p.Val254=)
|
rs2144500656
|
|
|
NM_000023.4(SGCA):c.768G>A (p.Glu256=)
|
rs2144500681
|
|
|
NM_000023.4(SGCA):c.771T>G (p.Pro257=)
|
|
|
|
NM_000023.4(SGCA):c.780G>A (p.Glu260=)
|
|
|
|
NM_000023.4(SGCA):c.783G>C (p.Val261=)
|
rs1905254161
|
|
|
NM_000023.4(SGCA):c.786C>T (p.Pro262=)
|
rs780981677
|
|
|
NM_000023.4(SGCA):c.789C>G (p.Thr263=)
|
rs769688229
|
|
|
NM_000023.4(SGCA):c.804C>T (p.Ile268=)
|
rs1905257217
|
|
|
NM_000023.4(SGCA):c.805C>T (p.Leu269=)
|
|
|
|
NM_000023.4(SGCA):c.813T>C (p.His271=)
|
|
|
|
NM_000023.4(SGCA):c.819G>A (p.Pro273=)
|
rs35972733
|
|
|
NM_000023.4(SGCA):c.81G>A (p.Thr27=)
|
rs2144493184
|
|
|
NM_000023.4(SGCA):c.825C>T (p.Phe275=)
|
rs1363461236
|
|
|
NM_000023.4(SGCA):c.828C>T (p.Cys276=)
|
rs2144500924
|
|
|
NM_000023.4(SGCA):c.82C>T (p.Leu28=)
|
rs753896716
|
|
|
NM_000023.4(SGCA):c.837T>C (p.Thr279=)
|
rs775773189
|
|
|
NM_000023.4(SGCA):c.867T>C (p.Asp289=)
|
rs751156929
|
|
|
NM_000023.4(SGCA):c.879C>A (p.Thr293=)
|
rs1209538410
|
|
|
NM_000023.4(SGCA):c.882C>G (p.Leu294=)
|
rs886044216
|
|
|
NM_000023.4(SGCA):c.883C>T (p.Leu295=)
|
rs777523838
|
|
|
NM_000023.4(SGCA):c.903C>T (p.Ala301=)
|
|
|
|
NM_000023.4(SGCA):c.904C>T (p.Leu302=)
|
rs373603128
|
|
|
NM_000023.4(SGCA):c.906G>C (p.Leu302=)
|
|
|
|
NM_000023.4(SGCA):c.90A>C (p.Pro30=)
|
rs754840688
|
|
|
NM_000023.4(SGCA):c.912C>T (p.Leu304=)
|
rs965941711
|
|
|
NM_000023.4(SGCA):c.915C>A (p.Thr305=)
|
|
|
|
NM_000023.4(SGCA):c.915C>G (p.Thr305=)
|
|
|
|
NM_000023.4(SGCA):c.922C>T (p.Leu308=)
|
|
|
|
NM_000023.4(SGCA):c.927C>T (p.Ala309=)
|
|
|
|
NM_000023.4(SGCA):c.939C>T (p.Cys313=)
|
rs2144501264
|
|
|
NM_000023.4(SGCA):c.93T>G (p.Leu31=)
|
rs1000827324
|
|
|
NM_000023.4(SGCA):c.945G>A (p.Arg315=)
|
|
|
|
NM_000023.4(SGCA):c.948G>A (p.Arg316=)
|
rs758785065
|
|
|
NM_000023.4(SGCA):c.956+13A>C
|
|
|
|
NM_000023.4(SGCA):c.956+13A>G
|
|
|
|
NM_000023.4(SGCA):c.956+14T>C
|
|
|
|
NM_000023.4(SGCA):c.956+18G>A
|
|
|
|
NM_000023.4(SGCA):c.956+19G>A
|
|
|
|
NM_000023.4(SGCA):c.956+9G>A
|
|
|
|
NM_000023.4(SGCA):c.957-12A>G
|
|
|
|
NM_000023.4(SGCA):c.957-12A>T
|
|
|
|
NM_000023.4(SGCA):c.957-16C>T
|
|
|
|
NM_000023.4(SGCA):c.957-17C>T
|
|
|
|
NM_000023.4(SGCA):c.957-19C>T
|
|
|
|
NM_000023.4(SGCA):c.957-5C>T
|
|
|
|
NM_000023.4(SGCA):c.957-6C>G
|
|
|
|
NM_000023.4(SGCA):c.957-8T>G
|
|
|
|
NM_000023.4(SGCA):c.958C>T (p.Leu320=)
|
rs1905303889
|
|
|
NM_000023.4(SGCA):c.966A>G (p.Arg322=)
|
|
|
|
NM_000023.4(SGCA):c.970C>T (p.Leu324=)
|
|
|
|
NM_000023.4(SGCA):c.975T>A (p.Ala325=)
|
rs2144502104
|
|
|
NM_000023.4(SGCA):c.983+10G>A
|
|
|
|
NM_000023.4(SGCA):c.983+10G>C
|
rs2144502163
|
|
|
NM_000023.4(SGCA):c.983+11G>A
|
|
|
|
NM_000023.4(SGCA):c.983+16C>A
|
|
|
|
NM_000023.4(SGCA):c.983+16_983+17insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGGAAAGC
|
|
|
|
NM_000023.4(SGCA):c.983+18G>A
|
|
|
|
NM_000023.4(SGCA):c.983+19G>A
|
rs1231515934
|
|
|
NM_000023.4(SGCA):c.983+19G>C
|
|
|
|
NM_000023.4(SGCA):c.983+20G>A
|
|
|
|
NM_000023.4(SGCA):c.984-11T>G
|
|
|
|
NM_000023.4(SGCA):c.984-12C>T
|
|
|
|
NM_000023.4(SGCA):c.984-15C>G
|
|
|
|
NM_000023.4(SGCA):c.984-20C>T
|
|
|
|
NM_000023.4(SGCA):c.984-6C>T
|
|
|
|
NM_000023.4(SGCA):c.984-8G>T
|
|
|
|
NM_000023.4(SGCA):c.990G>A (p.Gln330=)
|
rs755619226
|
|
|
NM_000023.4(SGCA):c.996C>T (p.Val332=)
|
rs777162824
|
|
|
NM_000023.4(SGCA):c.999C>T (p.His333=)
|
rs1330191790
|
|
|
NM_000023.4(SGCA):c.99C>T (p.Gly33=)
|
rs750582302
|
|
|
NM_000116.5(TAFAZZIN):c.102C>T (p.Phe34=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.109+15G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.109+15del
|
|
|
|
NM_000116.5(TAFAZZIN):c.109+20G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.109+8G>A
|
rs2068315794
|
|
|
NM_000116.5(TAFAZZIN):c.110-15C>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.110-19A>C
|
|
|
|
NM_000116.5(TAFAZZIN):c.110-20G>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.129C>A (p.Thr43=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.129C>G (p.Thr43=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.132G>A (p.Val44=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.138C>T (p.Asn46=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.186C>G (p.Pro62=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.189C>T (p.Leu63=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.216C>T (p.Cys72=)
|
rs1557191148
|
|
|
NM_000116.5(TAFAZZIN):c.228T>G (p.Pro76=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.238+10C>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.238+7G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.238+9G>C
|
|
|
|
NM_000116.5(TAFAZZIN):c.239-11C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.239-17C>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.239-17C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.239-18G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.239-19A>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.239-6C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.239-6del
|
rs1064794479
|
|
|
NM_000116.5(TAFAZZIN):c.239-7C>T
|
rs2148190472
|
|
|
NM_000116.5(TAFAZZIN):c.24G>T (p.Pro8=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.252C>T (p.Leu84=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.255C>T (p.Arg85=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.258C>T (p.His86=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.267C>T (p.Asn89=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.273G>A (p.Lys91=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.284+17C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.284+8_284+10del
|
|
|
|
NM_000116.5(TAFAZZIN):c.285-14C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.285-5C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.294A>T (p.Ala98=)
|
rs2148191873
|
|
|
NM_000116.5(TAFAZZIN):c.30C>T (p.Pro10=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.322C>T (p.Leu108=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.327C>T (p.His109=)
|
rs1569552726
|
|
|
NM_000116.5(TAFAZZIN):c.348C>G (p.Gly116=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.360T>C (p.Pro120=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.370+11C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.370+12del
|
|
|
|
NM_000116.5(TAFAZZIN):c.370+16A>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.370+18C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.370+19G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.371-13C>G
|
rs397515742
|
|
|
NM_000116.5(TAFAZZIN):c.371-17T>C
|
|
|
|
NM_000116.5(TAFAZZIN):c.371-19A>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.371-4G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.39G>T (p.Pro13=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.42G>T (p.Pro14=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.45C>T (p.Leu15=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.460+10G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.460+10G>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.460+17G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.461-13C>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.461-14C>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.461-15G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.461-18G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.461-19A>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.461-22_461-14del
|
|
|
|
NM_000116.5(TAFAZZIN):c.461-7C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.483G>A (p.Gly161=)
|
rs2148210856
|
|
|
NM_000116.5(TAFAZZIN):c.496T>C (p.Leu166=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.504G>A (p.Lys168=)
|
rs1057515818
|
|
|
NM_000116.5(TAFAZZIN):c.510C>T (p.Asn170=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.534C>T (p.Phe178=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.541+10G>A
|
rs1396794207
|
|
|
NM_000116.5(TAFAZZIN):c.541+13G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.541+20_541+40dup
|
|
|
|
NM_000116.5(TAFAZZIN):c.541+8G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.542-6C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.552C>T (p.Asn184=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.561C>T (p.Ser187=)
|
rs36005334
|
|
|
NM_000116.5(TAFAZZIN):c.579G>A (p.Lys193=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.584-11C>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.584-15C>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.584-9C>A
|
rs2068583124
|
|
|
NM_000116.5(TAFAZZIN):c.584-9C>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.584-9C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.588C>T (p.Ile196=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.594C>A (p.Arg198=)
|
rs797040235
|
|
|
NM_000116.5(TAFAZZIN):c.594C>G (p.Arg198=)
|
rs797040235
|
|
|
NM_000116.5(TAFAZZIN):c.594C>T (p.Arg198=)
|
rs797040235
|
|
|
NM_000116.5(TAFAZZIN):c.628C>T (p.Leu210=)
|
rs782162647
|
|
|
NM_000116.5(TAFAZZIN):c.633C>T (p.Pro211=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.642T>C (p.His214=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.646+12G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.646+13A>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.646+15G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.646+18G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.646+20C>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.646+7C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.646+8T>C
|
|
|
|
NM_000116.5(TAFAZZIN):c.647-14C>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.678C>T (p.Pro226=)
|
rs1603381820
|
|
|
NM_000116.5(TAFAZZIN):c.684C>T (p.Phe228=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.687C>T (p.Pro229=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.690C>A (p.Arg230=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.699+15C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.699+17G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.699+19C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.69C>G (p.Val23=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.700-14C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.700-19C>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.705C>A (p.Ile235=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.711G>C (p.Val237=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.723G>A (p.Lys241=)
|
rs2148214484
|
|
|
NM_000116.5(TAFAZZIN):c.735C>T (p.Ala245=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.747C>G (p.Leu249=)
|
rs376379156
|
|
|
NM_000116.5(TAFAZZIN):c.747C>T (p.Leu249=)
|
rs376379156
|
|
|
NM_000116.5(TAFAZZIN):c.759G>A (p.Arg253=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.777+19C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.777+20C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.778-6C>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.778-8del
|
|
|
|
NM_000116.5(TAFAZZIN):c.801G>T (p.Thr267=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.813A>G (p.Gln271=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.816G>A (p.Glu272=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.846G>A (p.Glu282=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.864C>G (p.Leu288=)
|
rs1603382441
|
|
|
NM_000116.5(TAFAZZIN):c.90C>T (p.Thr30=)
|
|
|
|
NM_000117.3(EMD):c.-161CAACGATTCGGCTGTGACGCGA[1]
|
rs1463296648
|
|
|
NM_000117.3(EMD):c.102C>T (p.Tyr34=)
|
|
|
|
NM_000117.3(EMD):c.105G>A (p.Glu35=)
|
|
|
|
NM_000117.3(EMD):c.114C>A (p.Ile38=)
|
rs2148128131
|
|
|
NM_000117.3(EMD):c.114C>T (p.Ile38=)
|
rs2148128131
|
|
|
NM_000117.3(EMD):c.144C>G (p.Leu48=)
|
rs200537612
|
|
|
NM_000117.3(EMD):c.153C>G (p.Pro51=)
|
rs782051850
|
|
|
NM_000117.3(EMD):c.153C>T (p.Pro51=)
|
rs782051850
|
|
|
NM_000117.3(EMD):c.162C>T (p.Ser54=)
|
|
|
|
NM_000117.3(EMD):c.180C>T (p.Ser60=)
|
|
|
|
NM_000117.3(EMD):c.187+11C>A
|
|
|
|
NM_000117.3(EMD):c.187+12G>C
|
|
|
|
NM_000117.3(EMD):c.187+13C>T
|
|
|
|
NM_000117.3(EMD):c.187+16G>T
|
|
|
|
NM_000117.3(EMD):c.187+18G>A
|
|
|
|
NM_000117.3(EMD):c.187+7G>A
|
|
|
|
NM_000117.3(EMD):c.187+7G>T
|
|
|
|
NM_000117.3(EMD):c.188-12C>G
|
|
|
|
NM_000117.3(EMD):c.188-14T>C
|
|
|
|
NM_000117.3(EMD):c.188-15C>G
|
|
|
|
NM_000117.3(EMD):c.188-18C>T
|
|
|
|
NM_000117.3(EMD):c.188-20del
|
|
|
|
NM_000117.3(EMD):c.188-4C>T
|
rs1557182352
|
|
|
NM_000117.3(EMD):c.188-6A>T
|
rs2148128297
|
|
|
NM_000117.3(EMD):c.188-7A>G
|
rs2148128296
|
|
|
NM_000117.3(EMD):c.188-8C>G
|
|
|
|
NM_000117.3(EMD):c.189C>T (p.Asp63=)
|
rs2148128303
|
|
|
NM_000117.3(EMD):c.207G>A (p.Gly69=)
|
rs1557182361
|
|
|
NM_000117.3(EMD):c.231C>G (p.Pro77=)
|
|
|
|
NM_000117.3(EMD):c.231C>T (p.Pro77=)
|
rs2148128330
|
|
|
NM_000117.3(EMD):c.246T>A (p.Ala82=)
|
rs2148128347
|
|
|
NM_000117.3(EMD):c.249A>G (p.Leu83=)
|
|
|
|
NM_000117.3(EMD):c.255C>T (p.Tyr85=)
|
rs1303189631
|
|
|
NM_000117.3(EMD):c.265+10G>A
|
|
|
|
NM_000117.3(EMD):c.265+11G>T
|
|
|
|
NM_000117.3(EMD):c.265+12G>T
|
|
|
|
NM_000117.3(EMD):c.265+17G>A
|
|
|
|
NM_000117.3(EMD):c.265+7_265+8insTTTACTCTACCAGAGCA
|
|
|
|
NM_000117.3(EMD):c.265+8A>G
|
|
|
|
NM_000117.3(EMD):c.266-10C>T
|
rs2067879183
|
|
|
NM_000117.3(EMD):c.266-10_266-9del
|
|
|
|
NM_000117.3(EMD):c.266-13C>A
|
|
|
|
NM_000117.3(EMD):c.266-13C>T
|
|
|
|
NM_000117.3(EMD):c.266-19del
|
|
|
|
NM_000117.3(EMD):c.266-9C>G
|
|
|
|
NM_000117.3(EMD):c.266-9C>T
|
rs782152177
|
|
|
NM_000117.3(EMD):c.270C>T (p.Tyr90=)
|
rs2148128465
|
|
|
NM_000117.3(EMD):c.285T>C (p.Tyr95=)
|
rs2148128483
|
|
|
NM_000117.3(EMD):c.294C>T (p.Ser98=)
|
rs2148128485
|
|
|
NM_000117.3(EMD):c.303C>T (p.Thr101=)
|
|
|
|
NM_000117.3(EMD):c.309G>A (p.Arg103=)
|
rs2148128497
|
|
|
NM_000117.3(EMD):c.30C>T (p.Thr10=)
|
|
|
|
NM_000117.3(EMD):c.311C>A (p.Thr104Asn)
|
rs1245332627
|
|
|
NM_000117.3(EMD):c.321G>A (p.Glu107=)
|
rs1452250882
|
|
|
NM_000117.3(EMD):c.327G>A (p.Glu109=)
|
|
|
|
NM_000117.3(EMD):c.330T>A (p.Ser110=)
|
rs782666989
|
|
|
NM_000117.3(EMD):c.330T>C (p.Ser110=)
|
rs782666989
|
|
|
NM_000117.3(EMD):c.339G>A (p.Pro113=)
|
rs2148128524
|
|
|
NM_000117.3(EMD):c.33G>A (p.Glu11=)
|
rs782121776
|
|
|
NM_000117.3(EMD):c.33G>C (p.Glu11Asp)
|
rs782121776
|
|
|
NM_000117.3(EMD):c.351C>T (p.Val117=)
|
rs2148128529
|
|
|
NM_000117.3(EMD):c.369A>G (p.Ser123=)
|
rs2148128541
|
|
|
NM_000117.3(EMD):c.384C>T (p.Asp128=)
|
rs1603365838
|
|
|
NM_000117.3(EMD):c.399+16G>A
|
|
|
|
NM_000117.3(EMD):c.399+18C>A
|
rs182540760
|
|
|
NM_000117.3(EMD):c.399+19G>A
|
|
|
|
NM_000117.3(EMD):c.399+19G>T
|
|
|
|
NM_000117.3(EMD):c.39C>T (p.Thr13=)
|
rs1352660201
|
|
|
NM_000117.3(EMD):c.400-11C>T
|
|
|
|
NM_000117.3(EMD):c.400-12T>A
|
|
|
|
NM_000117.3(EMD):c.400-13C>T
|
|
|
|
NM_000117.3(EMD):c.400-15G>A
|
|
|
|
NM_000117.3(EMD):c.400-15G>C
|
|
|
|
NM_000117.3(EMD):c.400-17C>G
|
|
|
|
NM_000117.3(EMD):c.402G>C (p.Val134=)
|
rs2148128710
|
|
|
NM_000117.3(EMD):c.408T>C (p.Asp136=)
|
rs1569552096
|
|
|
NM_000117.3(EMD):c.411C>T (p.Asp137=)
|
rs2148128718
|
|
|
NM_000117.3(EMD):c.438G>A (p.Glu146=)
|
|
|
|
NM_000117.3(EMD):c.449+10G>T
|
rs782467790
|
|
|
NM_000117.3(EMD):c.449+17C>G
|
|
|
|
NM_000117.3(EMD):c.449+18C>A
|
|
|
|
NM_000117.3(EMD):c.449+20A>T
|
|
|
|
NM_000117.3(EMD):c.449+7A>G
|
|
|
|
NM_000117.3(EMD):c.450-11T>C
|
|
|
|
NM_000117.3(EMD):c.450-13T>G
|
rs375480222
|
|
|
NM_000117.3(EMD):c.450-14C>G
|
|
|
|
NM_000117.3(EMD):c.450-17C>G
|
|
|
|
NM_000117.3(EMD):c.450-17C>T
|
|
|
|
NM_000117.3(EMD):c.450-6C>T
|
|
|
|
NM_000117.3(EMD):c.450-8T>C
|
|
|
|
NM_000117.3(EMD):c.456C>T (p.Arg152=)
|
rs2148128787
|
|
|
NM_000117.3(EMD):c.459C>G (p.Pro153=)
|
rs782147479
|
|
|
NM_000117.3(EMD):c.466G>C (p.Gly156Arg)
|
rs144594695
|
|
|
NM_000117.3(EMD):c.46C>T (p.Leu16=)
|
rs2148127980
|
|
|
NM_000117.3(EMD):c.48G>T (p.Leu16=)
|
|
|
|
NM_000117.3(EMD):c.495G>T (p.Thr165=)
|
rs151074632
|
|
|
NM_000117.3(EMD):c.510T>C (p.Val170=)
|
rs2148128835
|
|
|
NM_000117.3(EMD):c.516C>T (p.Ala172=)
|
|
|
|
NM_000117.3(EMD):c.520A>C (p.Arg174=)
|
|
|
|
NM_000117.3(EMD):c.529C>T (p.Leu177=)
|
|
|
|
NM_000117.3(EMD):c.534C>T (p.Asp178=)
|
rs1430510939
|
|
|
NM_000117.3(EMD):c.535C>T (p.Leu179=)
|
rs1260147167
|
|
|
NM_000117.3(EMD):c.543T>C (p.Tyr181=)
|
|
|
|
NM_000117.3(EMD):c.549T>C (p.Pro183=)
|
rs886044848
|
|
|
NM_000117.3(EMD):c.555C>T (p.Ser185=)
|
|
|
|
NM_000117.3(EMD):c.558C>T (p.Ser186=)
|
rs2148128859
|
|
|
NM_000117.3(EMD):c.561C>T (p.Ser187=)
|
|
|
|
NM_000117.3(EMD):c.576C>G (p.Ser192=)
|
|
|
|
NM_000117.3(EMD):c.579C>A (p.Ser193=)
|
rs781952637
|
|
|
NM_000117.3(EMD):c.582A>G (p.Ser194=)
|
rs781933286
|
|
|
NM_000117.3(EMD):c.591C>G (p.Ser197=)
|
rs1227767189
|
|
|
NM_000117.3(EMD):c.591C>T (p.Ser197=)
|
rs1227767189
|
|
|
NM_000117.3(EMD):c.610C>G (p.Arg204Gly)
|
rs782299893
|
|
|
NM_000117.3(EMD):c.621G>C (p.Arg207=)
|
|
|
|
NM_000117.3(EMD):c.639T>G (p.Pro213=)
|
|
|
|
NM_000117.3(EMD):c.63C>T (p.Ile21=)
|
|
|
|
NM_000117.3(EMD):c.663C>T (p.Arg221=)
|
|
|
|
NM_000117.3(EMD):c.669C>T (p.Val223=)
|
|
|
|
NM_000117.3(EMD):c.66G>A (p.Pro22=)
|
|
|
|
NM_000117.3(EMD):c.66G>T (p.Pro22=)
|
|
|
|
NM_000117.3(EMD):c.672G>C (p.Pro224=)
|
|
|
|
NM_000117.3(EMD):c.681C>A (p.Gly227=)
|
|
|
|
NM_000117.3(EMD):c.688C>T (p.Leu230=)
|
rs980424914
|
|
|
NM_000117.3(EMD):c.697C>T (p.Leu233=)
|
rs1603366026
|
|
|
NM_000117.3(EMD):c.712G>A (p.Val238Ile)
|
rs782455914
|
|
|
NM_000117.3(EMD):c.718T>C (p.Phe240Leu)
|
|
|
|
NM_000117.3(EMD):c.720C>T (p.Phe240=)
|
rs2067886666
|
|
|
NM_000117.3(EMD):c.723C>T (p.Phe241=)
|
|
|
|
NM_000117.3(EMD):c.741G>A (p.Gln247=)
|
|
|
|
NM_000117.3(EMD):c.762C>T (p.Phe254=)
|
rs1603366051
|
|
|
NM_000117.3(EMD):c.82+12C>T
|
|
|
|
NM_000117.3(EMD):c.82+19G>C
|
|
|
|
NM_000117.3(EMD):c.82+20A>C
|
|
|
|
NM_000117.3(EMD):c.83-12G>A
|
|
|
|
NM_000117.3(EMD):c.83-13C>T
|
|
|
|
NM_000117.3(EMD):c.83-16C>T
|
|
|
|
NM_000117.3(EMD):c.83-17G>A
|
rs782637320
|
|
|
NM_000117.3(EMD):c.83-9T>C
|
|
|
|
NM_000117.3(EMD):c.87A>G (p.Ser29=)
|
|
|
|
NM_000117.3(EMD):c.96G>A (p.Arg32=)
|
|
|
|
NM_000117.3(EMD):c.9C>T (p.Asn3=)
|
|
|
|
NM_000126.4(ETFA):c.120C>T (p.Thr40=)
|
|
|
|
NM_000126.4(ETFA):c.126T>G (p.Thr42=)
|
|
|
|
NM_000126.4(ETFA):c.141T>G (p.Leu47=)
|
rs2141543772
|
|
|
NM_000126.4(ETFA):c.153G>A (p.Val51=)
|
rs2039810189
|
|
|
NM_000126.4(ETFA):c.156C>T (p.Ser52=)
|
rs2141543739
|
|
|
NM_000126.4(ETFA):c.15G>A (p.Ala5=)
|
rs1253564653
|
|
|
NM_000126.4(ETFA):c.165A>G (p.Val55=)
|
rs2039810025
|
|
|
NM_000126.4(ETFA):c.183C>T (p.Asp61=)
|
rs2141543697
|
|
|
NM_000126.4(ETFA):c.186+7A>C
|
|
|
|
NM_000126.4(ETFA):c.186+8A>T
|
|
|
|
NM_000126.4(ETFA):c.186+9T>A
|
rs1596224309
|
|
|
NM_000126.4(ETFA):c.186+9T>C
|
rs1596224309
|
|
|
NM_000126.4(ETFA):c.187-13C>A
|
|
|
|
NM_000126.4(ETFA):c.187-14T>C
|
|
|
|
NM_000126.4(ETFA):c.187-17T>G
|
|
|
|
NM_000126.4(ETFA):c.187-18C>T
|
|
|
|
NM_000126.4(ETFA):c.189G>A (p.Val63=)
|
rs1179483198
|
|
|
NM_000126.4(ETFA):c.201C>G (p.Leu67=)
|
rs1250916782
|
|
|
NM_000126.4(ETFA):c.210A>G (p.Val70=)
|
rs1274661227
|
|
|
NM_000126.4(ETFA):c.210A>T (p.Val70=)
|
|
|
|
NM_000126.4(ETFA):c.213A>G (p.Ala71=)
|
|
|
|
NM_000126.4(ETFA):c.21G>A (p.Pro7=)
|
rs903002200
|
|
|
NM_000126.4(ETFA):c.222A>G (p.Ala74=)
|
rs2141540424
|
|
|
NM_000126.4(ETFA):c.228T>C (p.Val76=)
|
rs1277270558
|
|
|
NM_000126.4(ETFA):c.240G>A (p.Gln80=)
|
rs2141540395
|
|
|
NM_000126.4(ETFA):c.24G>A (p.Gly8=)
|
rs2141564548
|
|
|
NM_000126.4(ETFA):c.24G>C (p.Gly8=)
|
rs2141564548
|
|
|
NM_000126.4(ETFA):c.261A>G (p.Leu87=)
|
|
|
|
NM_000126.4(ETFA):c.264T>G (p.Leu88=)
|
rs1405829462
|
|
|
NM_000126.4(ETFA):c.268+11C>G
|
|
|
|
NM_000126.4(ETFA):c.268+12C>T
|
|
|
|
NM_000126.4(ETFA):c.268+14G>A
|
|
|
|
NM_000126.4(ETFA):c.268+15T>C
|
|
|
|
NM_000126.4(ETFA):c.268+18A>G
|
rs757775846
|
|
|
NM_000126.4(ETFA):c.269-15G>T
|
|
|
|
NM_000126.4(ETFA):c.269-19A>G
|
|
|
|
NM_000126.4(ETFA):c.269-5C>A
|
|
|
|
NM_000126.4(ETFA):c.282A>G (p.Pro94=)
|
|
|
|
NM_000126.4(ETFA):c.288T>C (p.Ile96=)
|
|
|
|
NM_000126.4(ETFA):c.294A>C (p.Ala98=)
|
rs1458002715
|
|
|
NM_000126.4(ETFA):c.297T>C (p.Thr99=)
|
rs2141540022
|
|
|
NM_000126.4(ETFA):c.297T>G (p.Thr99=)
|
|
|
|
NM_000126.4(ETFA):c.303G>A (p.Lys101=)
|
|
|
|
NM_000126.4(ETFA):c.30C>G (p.Leu10=)
|
rs1042921735
|
|
|
NM_000126.4(ETFA):c.324C>A (p.Ile108=)
|
rs753701756
|
|
|
NM_000126.4(ETFA):c.33G>C (p.Arg11=)
|
|
|
|
NM_000126.4(ETFA):c.348A>G (p.Gly116=)
|
rs2141539896
|
|
|
NM_000126.4(ETFA):c.351+12G>A
|
rs2039773989
|
|
|
NM_000126.4(ETFA):c.351+18G>A
|
|
|
|
NM_000126.4(ETFA):c.351+20G>A
|
|
|
|
NM_000126.4(ETFA):c.351+8G>C
|
rs374723922
|
|
|
NM_000126.4(ETFA):c.351+9G>A
|
rs2039774067
|
|
|
NM_000126.4(ETFA):c.352-16C>G
|
|
|
|
NM_000126.4(ETFA):c.352-19C>T
|
|
|
|
NM_000126.4(ETFA):c.352-7C>T
|
|
|
|
NM_000126.4(ETFA):c.358T>C (p.Leu120=)
|
rs2141533653
|
|
|
NM_000126.4(ETFA):c.363C>T (p.Pro121=)
|
|
|
|
NM_000126.4(ETFA):c.366A>G (p.Arg122=)
|
rs2039718120
|
|
|
NM_000126.4(ETFA):c.369A>T (p.Val123=)
|
|
|
|
NM_000126.4(ETFA):c.36G>A (p.Arg12=)
|
rs1299355915
|
|
|
NM_000126.4(ETFA):c.372A>C (p.Ala124=)
|
|
|
|
NM_000126.4(ETFA):c.384G>A (p.Glu128=)
|
|
|
|
NM_000126.4(ETFA):c.39+11A>C
|
|
|
|
NM_000126.4(ETFA):c.39+14G>T
|
|
|
|
NM_000126.4(ETFA):c.39+17A>G
|
|
|
|
NM_000126.4(ETFA):c.39+18del
|
|
|
|
NM_000126.4(ETFA):c.39+19G>A
|
|
|
|
NM_000126.4(ETFA):c.39+7C>T
|
|
|
|
NM_000126.4(ETFA):c.39+8C>G
|
|
|
|
NM_000126.4(ETFA):c.39+9G>A
|
rs2039995773
|
|
|
NM_000126.4(ETFA):c.39+9G>C
|
|
|
|
NM_000126.4(ETFA):c.390C>T (p.Ala130=)
|
|
|
|
NM_000126.4(ETFA):c.40-10C>T
|
rs546196896
|
|
|
NM_000126.4(ETFA):c.40-16T>G
|
rs1402206099
|
|
|
NM_000126.4(ETFA):c.40-17C>A
|
|
|
|
NM_000126.4(ETFA):c.40-17_40-8del
|
|
|
|
NM_000126.4(ETFA):c.40-19T>C
|
|
|
|
NM_000126.4(ETFA):c.40-21_40-18dup
|
|
|
|
NM_000126.4(ETFA):c.40-21_40-19dup
|
|
|
|
NM_000126.4(ETFA):c.40-8C>T
|
rs1380119459
|
|
|
NM_000126.4(ETFA):c.423T>C (p.Pro141=)
|
rs2141533520
|
|
|
NM_000126.4(ETFA):c.426C>T (p.Asp142=)
|
|
|
|
NM_000126.4(ETFA):c.429A>C (p.Thr143=)
|
rs2141533504
|
|
|
NM_000126.4(ETFA):c.429A>G (p.Thr143=)
|
|
|
|
NM_000126.4(ETFA):c.435G>A (p.Val145=)
|
rs2141533487
|
|
|
NM_000126.4(ETFA):c.438A>G (p.Arg146=)
|
|
|
|
NM_000126.4(ETFA):c.441T>A (p.Thr147=)
|
rs2141533484
|
|
|
NM_000126.4(ETFA):c.451+11A>C
|
|
|
|
NM_000126.4(ETFA):c.451+12A>G
|
|
|
|
NM_000126.4(ETFA):c.451+14_451+17del
|
rs2039716961
|
|
|
NM_000126.4(ETFA):c.451+15A>G
|
|
|
|
NM_000126.4(ETFA):c.451+17G>T
|
|
|
|
NM_000126.4(ETFA):c.451+19T>C
|
rs1301022193
|
|
|
NM_000126.4(ETFA):c.452-13T>A
|
|
|
|
NM_000126.4(ETFA):c.452-17T>C
|
|
|
|
NM_000126.4(ETFA):c.452-7G>A
|
|
|
|
NM_000126.4(ETFA):c.452-7G>T
|
|
|
|
NM_000126.4(ETFA):c.452-9A>G
|
|
|
|
NM_000126.4(ETFA):c.456T>C (p.Asn152=)
|
rs2141531775
|
|
|
NM_000126.4(ETFA):c.462A>C (p.Leu154=)
|
rs2039705956
|
|
|
NM_000126.4(ETFA):c.462A>G (p.Leu154=)
|
|
|
|
NM_000126.4(ETFA):c.468A>C (p.Thr156=)
|
rs775043427
|
|
|
NM_000126.4(ETFA):c.471G>A (p.Val157=)
|
|
|
|
NM_000126.4(ETFA):c.495G>A (p.Val165=)
|
|
|
|
NM_000126.4(ETFA):c.513A>G (p.Thr171=)
|
|
|
|
NM_000126.4(ETFA):c.51A>G (p.Leu17=)
|
|
|
|
NM_000126.4(ETFA):c.540C>G (p.Gly180=)
|
rs146133196
|
|
|
NM_000126.4(ETFA):c.540C>T (p.Gly180=)
|
rs146133196
|
|
|
NM_000126.4(ETFA):c.549C>T (p.Ala183=)
|
|
|
|
NM_000126.4(ETFA):c.54A>G (p.Arg18=)
|
rs2141543902
|
|
|
NM_000126.4(ETFA):c.558A>G (p.Glu186=)
|
rs2141531548
|
|
|
NM_000126.4(ETFA):c.562+10C>G
|
|
|
|
NM_000126.4(ETFA):c.562+11A>G
|
|
|
|
NM_000126.4(ETFA):c.562+13T>G
|
|
|
|
NM_000126.4(ETFA):c.562+15G>C
|
|
|
|
NM_000126.4(ETFA):c.562+16G>T
|
rs2141531505
|
|
|
NM_000126.4(ETFA):c.562+18G>T
|
|
|
|
NM_000126.4(ETFA):c.562+8T>C
|
|
|
|
NM_000126.4(ETFA):c.562+8T>G
|
|
|
|
NM_000126.4(ETFA):c.563-11A>T
|
|
|
|
NM_000126.4(ETFA):c.563-4G>A
|
|
|
|
NM_000126.4(ETFA):c.563-5T>C
|
rs2141530823
|
|
|
NM_000126.4(ETFA):c.563-6A>G
|
rs2141530825
|
|
|
NM_000126.4(ETFA):c.563-8G>A
|
rs777484688
|
|
|
NM_000126.4(ETFA):c.563-9T>C
|
|
|
|
NM_000126.4(ETFA):c.579A>G (p.Pro193=)
|
rs936157234
|
|
|
NM_000126.4(ETFA):c.591A>C (p.Ser197=)
|
rs1327483238
|
|
|
NM_000126.4(ETFA):c.594G>A (p.Glu198=)
|
|
|
|
NM_000126.4(ETFA):c.603C>T (p.Asp201=)
|
|
|
|
NM_000126.4(ETFA):c.630A>G (p.Pro210=)
|
|
|
|
NM_000126.4(ETFA):c.657A>G (p.Val219=)
|
|
|
|
NM_000126.4(ETFA):c.660T>C (p.Ser220=)
|
|
|
|
NM_000126.4(ETFA):c.664+16A>C
|
|
|
|
NM_000126.4(ETFA):c.664+20T>C
|
|
|
|
NM_000126.4(ETFA):c.664+8A>T
|
|
|
|
NM_000126.4(ETFA):c.665-12T>A
|
|
|
|
NM_000126.4(ETFA):c.665-13C>G
|
|
|
|
NM_000126.4(ETFA):c.665-14T>C
|
|
|
|
NM_000126.4(ETFA):c.665-15A>G
|
|
|
|
NM_000126.4(ETFA):c.665-16dup
|
|
|
|
NM_000126.4(ETFA):c.665-17T>C
|
|
|
|
NM_000126.4(ETFA):c.665-18T>C
|
|
|
|
NM_000126.4(ETFA):c.665-4T>C
|
|
|
|
NM_000126.4(ETFA):c.667C>A (p.Arg223=)
|
rs769976586
|
|
|
NM_000126.4(ETFA):c.66C>T (p.Thr22=)
|
rs370375322
|
|
|
NM_000126.4(ETFA):c.687G>A (p.Glu229=)
|
|
|
|
NM_000126.4(ETFA):c.696G>A (p.Lys232=)
|
|
|
|
NM_000126.4(ETFA):c.69G>A (p.Leu23=)
|
|
|
|
NM_000126.4(ETFA):c.700T>C (p.Leu234=)
|
|
|
|
NM_000126.4(ETFA):c.702A>G (p.Leu234=)
|
rs775620228
|
|
|
NM_000126.4(ETFA):c.721C>T (p.Leu241=)
|
|
|
|
NM_000126.4(ETFA):c.723A>G (p.Leu241=)
|
rs2141528126
|
|
|
NM_000126.4(ETFA):c.733+10T>C
|
rs1298665818
|
|
|
NM_000126.4(ETFA):c.733+16T>A
|
|
|
|
NM_000126.4(ETFA):c.733+18A>C
|
|
|
|
NM_000126.4(ETFA):c.733+8T>A
|
|
|
|
NM_000126.4(ETFA):c.733+8T>C
|
|
|
|
NM_000126.4(ETFA):c.733+9A>G
|
|
|
|
NM_000126.4(ETFA):c.734-10T>C
|
rs2141516395
|
|
|
NM_000126.4(ETFA):c.734-17A>G
|
|
|
|
NM_000126.4(ETFA):c.734-8C>T
|
|
|
|
NM_000126.4(ETFA):c.750T>C (p.Ala250=)
|
|
|
|
NM_000126.4(ETFA):c.765C>A (p.Gly255=)
|
rs2141516311
|
|
|
NM_000126.4(ETFA):c.780C>T (p.Asp260=)
|
|
|
|
NM_000126.4(ETFA):c.786A>G (p.Gln262=)
|
|
|
|
NM_000126.4(ETFA):c.798G>A (p.Thr266=)
|
rs764478797
|
|
|
NM_000126.4(ETFA):c.810A>G (p.Val270=)
|
|
|
|
NM_000126.4(ETFA):c.813A>C (p.Ala271=)
|
rs2141516230
|
|
|
NM_000126.4(ETFA):c.816+13A>G
|
|
|
|
NM_000126.4(ETFA):c.816+9T>A
|
rs2141516215
|
|
|
NM_000126.4(ETFA):c.817-12_817-11del
|
|
|
|
NM_000126.4(ETFA):c.817-16A>G
|
rs1176510084
|
|
|
NM_000126.4(ETFA):c.817-5T>A
|
|
|
|
NM_000126.4(ETFA):c.817-7A>G
|
|
|
|
NM_000126.4(ETFA):c.817-8T>G
|
|
|
|
NM_000126.4(ETFA):c.819A>G (p.Glu273=)
|
|
|
|
NM_000126.4(ETFA):c.81G>A (p.Glu27=)
|
|
|
|
NM_000126.4(ETFA):c.822T>A (p.Leu274=)
|
rs2141463797
|
|
|
NM_000126.4(ETFA):c.822T>C (p.Leu274=)
|
rs2141463797
|
|
|
NM_000126.4(ETFA):c.837A>C (p.Gly279=)
|
rs772717284
|
|
|
NM_000126.4(ETFA):c.837A>G (p.Gly279=)
|
rs772717284
|
|
|
NM_000126.4(ETFA):c.84T>C (p.His28=)
|
|
|
|
NM_000126.4(ETFA):c.864T>G (p.Ala288=)
|
|
|
|
NM_000126.4(ETFA):c.867G>A (p.Gly289=)
|
|
|
|
NM_000126.4(ETFA):c.882+10C>T
|
rs2039064081
|
|
|
NM_000126.4(ETFA):c.882+14A>T
|
|
|
|
NM_000126.4(ETFA):c.882+15G>A
|
|
|
|
NM_000126.4(ETFA):c.882+7G>A
|
rs753882653
|
|
|
NM_000126.4(ETFA):c.882+7G>C
|
rs753882653
|
|
|
NM_000126.4(ETFA):c.882+7G>T
|
rs753882653
|
|
|
NM_000126.4(ETFA):c.883-17_883-16del
|
|
|
|
NM_000126.4(ETFA):c.883-18T>C
|
|
|
|
NM_000126.4(ETFA):c.883-18T>G
|
|
|
|
NM_000126.4(ETFA):c.883-4A>G
|
rs2142108087
|
|
|
NM_000126.4(ETFA):c.883-5C>T
|
|
|
|
NM_000126.4(ETFA):c.883-6T>C
|
rs2142108091
|
|
|
NM_000126.4(ETFA):c.883-9A>G
|
rs773894937
|
|
|
NM_000126.4(ETFA):c.883-9dup
|
rs2142108094
|
|
|
NM_000126.4(ETFA):c.891G>C (p.Val297=)
|
rs2142108075
|
|
|
NM_000126.4(ETFA):c.909A>G (p.Pro303=)
|
rs2142108061
|
|
|
NM_000126.4(ETFA):c.927A>G (p.Gln309=)
|
|
|
|
NM_000126.4(ETFA):c.939T>C (p.Tyr313=)
|
|
|
|
NM_000126.4(ETFA):c.942A>C (p.Gly314=)
|
rs1253828046
|
|
|
NM_000126.4(ETFA):c.945A>C (p.Ile315=)
|
rs2142108038
|
|
|
NM_000126.4(ETFA):c.955T>C (p.Leu319=)
|
|
|
|
NM_000126.4(ETFA):c.960T>C (p.Phe320=)
|
|
|
|
NM_000126.4(ETFA):c.963+14G>A
|
|
|
|
NM_000126.4(ETFA):c.963+14G>C
|
rs1369553684
|
|
|
NM_000126.4(ETFA):c.963+17A>G
|
|
|
|
NM_000126.4(ETFA):c.963+8G>A
|
|
|
|
NM_000126.4(ETFA):c.963+9del
|
rs2038998662
|
|
|
NM_000126.4(ETFA):c.964-10T>C
|
rs1223890959
|
|
|
NM_000126.4(ETFA):c.964-18T>G
|
|
|
|
NM_000126.4(ETFA):c.964-20C>T
|
|
|
|
NM_000126.4(ETFA):c.964-4G>T
|
|
|
|
NM_000126.4(ETFA):c.972T>C (p.Pro324=)
|
rs1351662991
|
|
|
NM_000126.4(ETFA):c.99A>G (p.Leu33=)
|
|
|
|
NM_000152.5(GAA):c.1005G>A (p.Gly335=)
|
rs1598576696
|
|
|
NM_000152.5(GAA):c.1005G>C (p.Gly335=)
|
|
|
|
NM_000152.5(GAA):c.1008C>A (p.Ile336=)
|
rs994615279
|
|
|
NM_000152.5(GAA):c.1008C>T (p.Ile336=)
|
|
|
|
NM_000152.5(GAA):c.1009C>T (p.Leu337=)
|
rs1387814304
|
|
|
NM_000152.5(GAA):c.1011G>T (p.Leu337=)
|
|
|
|
NM_000152.5(GAA):c.1017C>T (p.Val339=)
|
rs1242745765
|
|
|
NM_000152.5(GAA):c.1020C>T (p.Tyr340=)
|
rs1358917187
|
|
|
NM_000152.5(GAA):c.1023C>A (p.Ile341=)
|
|
|
|
NM_000152.5(GAA):c.1026C>T (p.Phe342=)
|
rs910930578
|
|
|
NM_000152.5(GAA):c.1035A>C (p.Pro345=)
|
rs942325926
|
|
|
NM_000152.5(GAA):c.1041C>T (p.Pro347=)
|
rs1489442441
|
|
|
NM_000152.5(GAA):c.105C>T (p.Phe35=)
|
|
|
|
NM_000152.5(GAA):c.1062C>T (p.Tyr354=)
|
rs1064796703
|
|
|
NM_000152.5(GAA):c.1065G>A (p.Leu355=)
|
rs2143853784
|
|
|
NM_000152.5(GAA):c.1071T>C (p.Val357=)
|
rs1598576937
|
|
|
NM_000152.5(GAA):c.1075+10G>A
|
|
|
|
NM_000152.5(GAA):c.1075+14C>G
|
|
|
|
NM_000152.5(GAA):c.1075+14C>T
|
rs376547092
|
|
|
NM_000152.5(GAA):c.1075+15C>T
|
|
|
|
NM_000152.5(GAA):c.1075+16T>C
|
|
|
|
NM_000152.5(GAA):c.1075+18G>A
|
|
|
|
NM_000152.5(GAA):c.1075+7C>T
|
|
|
|
NM_000152.5(GAA):c.1075+8del
|
|
|
|
NM_000152.5(GAA):c.1076-12G>A
|
|
|
|
NM_000152.5(GAA):c.1076-12del
|
rs2039148326
|
|
|
NM_000152.5(GAA):c.1076-13C>T
|
|
|
|
NM_000152.5(GAA):c.1076-14G>A
|
rs2143854410
|
|
|
NM_000152.5(GAA):c.1076-15G>A
|
rs370414054
|
|
|
NM_000152.5(GAA):c.1076-15G>C
|
rs370414054
|
|
|
NM_000152.5(GAA):c.1076-15G>T
|
|
|
|
NM_000152.5(GAA):c.1076-4G>T
|
rs2039148417
|
|
|
NM_000152.5(GAA):c.1076-7C>T
|
|
|
|
NM_000152.5(GAA):c.1076-8G>A
|
|
|
|
NM_000152.5(GAA):c.1080C>T (p.Tyr360=)
|
rs2143854519
|
|
|
NM_000152.5(GAA):c.1086C>T (p.Phe362=)
|
rs2143854600
|
|
|
NM_000152.5(GAA):c.108G>C (p.Leu36=)
|
rs1369758261
|
|
|
NM_000152.5(GAA):c.108G>T (p.Leu36=)
|
rs1369758261
|
|
|
NM_000152.5(GAA):c.1092G>A (p.Pro364=)
|
rs777730774
|
|
|
NM_000152.5(GAA):c.1092G>C (p.Pro364=)
|
|
|
|
NM_000152.5(GAA):c.1095A>C (p.Pro365=)
|
rs1555600060
|
|
|
NM_000152.5(GAA):c.1098C>T (p.Tyr366=)
|
rs2143854770
|
|
|
NM_000152.5(GAA):c.1105C>T (p.Leu369=)
|
rs2143854883
|
|
|
NM_000152.5(GAA):c.1107G>A (p.Leu369=)
|
|
|
|
NM_000152.5(GAA):c.1107G>C (p.Leu369=)
|
|
|
|
NM_000152.5(GAA):c.1110C>T (p.Gly370=)
|
rs775172804
|
|
|
NM_000152.5(GAA):c.1119G>A (p.Leu373=)
|
rs763579808
|
|
|
NM_000152.5(GAA):c.1122C>T (p.Cys374=)
|
rs1342501706
|
|
|
NM_000152.5(GAA):c.1134C>T (p.Tyr378=)
|
rs1567830317
|
|
|
NM_000152.5(GAA):c.1137C>G (p.Ser379=)
|
rs2039151138
|
|
|
NM_000152.5(GAA):c.1140C>A (p.Ser380=)
|
rs1214685237
|
|
|
NM_000152.5(GAA):c.1140C>T (p.Ser380=)
|
rs1214685237
|
|
|
NM_000152.5(GAA):c.1149C>T (p.Ile383=)
|
|
|
|
NM_000152.5(GAA):c.1155C>G (p.Arg385=)
|
|
|
|
NM_000152.5(GAA):c.1155C>T (p.Arg385=)
|
rs2143855573
|
|
|
NM_000152.5(GAA):c.1164G>A (p.Val388=)
|
rs2143855798
|
|
|
NM_000152.5(GAA):c.1176C>T (p.Thr392=)
|
rs2143855934
|
|
|
NM_000152.5(GAA):c.117C>T (p.Pro39=)
|
|
|
|
NM_000152.5(GAA):c.1182C>T (p.Ala394=)
|
rs771894765
|
|
|
NM_000152.5(GAA):c.1185C>T (p.His395=)
|
rs2143856022
|
|
|
NM_000152.5(GAA):c.1188C>T (p.Phe396=)
|
rs756126944
|
|
|
NM_000152.5(GAA):c.1191C>G (p.Pro397=)
|
|
|
|
NM_000152.5(GAA):c.1194+10G>A
|
rs2143856297
|
|
|
NM_000152.5(GAA):c.1194+10G>T
|
|
|
|
NM_000152.5(GAA):c.1194+11G>T
|
|
|
|
NM_000152.5(GAA):c.1194+13G>A
|
|
|
|
NM_000152.5(GAA):c.1194+15T>A
|
|
|
|
NM_000152.5(GAA):c.1194+15T>C
|
|
|
|
NM_000152.5(GAA):c.1194+19dup
|
|
|
|
NM_000152.5(GAA):c.1194+20G>C
|
|
|
|
NM_000152.5(GAA):c.1194+8G>T
|
rs2143856250
|
|
|
NM_000152.5(GAA):c.1194+9G>A
|
|
|
|
NM_000152.5(GAA):c.1194+9G>T
|
|
|
|
NM_000152.5(GAA):c.1195-15G>C
|
rs373840229
|
|
|
NM_000152.5(GAA):c.1195-16C>T
|
|
|
|
NM_000152.5(GAA):c.1195-17C>G
|
|
|
|
NM_000152.5(GAA):c.1195-18C>A
|
|
|
|
NM_000152.5(GAA):c.1195-19T>C
|
|
|
|
NM_000152.5(GAA):c.1195-4G>A
|
|
|
|
NM_000152.5(GAA):c.1195-5T>C
|
rs2143856963
|
|
|
NM_000152.5(GAA):c.1195-7del
|
|
|
|
NM_000152.5(GAA):c.1195-9T>C
|
rs2143856933
|
|
|
NM_000152.5(GAA):c.1200C>T (p.Val400=)
|
|
|
|
NM_000152.5(GAA):c.1209C>T (p.Asn403=)
|
rs751333479
|
|
|
NM_000152.5(GAA):c.1212C>T (p.Asp404=)
|
rs2143857187
|
|
|
NM_000152.5(GAA):c.1215G>A (p.Leu405=)
|
|
|
|
NM_000152.5(GAA):c.1218C>T (p.Asp406=)
|
rs2039157400
|
|
|
NM_000152.5(GAA):c.1230C>A (p.Ser410=)
|
rs746340075
|
|
|
NM_000152.5(GAA):c.1234A>C (p.Arg412=)
|
|
|
|
NM_000152.5(GAA):c.1236G>A (p.Arg412=)
|
|
|
|
NM_000152.5(GAA):c.1239C>T (p.Asp413=)
|
rs2039158556
|
|
|
NM_000152.5(GAA):c.1260C>A (p.Gly420=)
|
|
|
|
NM_000152.5(GAA):c.1260C>G (p.Gly420=)
|
|
|
|
NM_000152.5(GAA):c.126G>C (p.Leu42=)
|
rs2143825047
|
|
|
NM_000152.5(GAA):c.1278C>T (p.Ala426=)
|
|
|
|
NM_000152.5(GAA):c.1284G>T (p.Val428=)
|
rs2143857912
|
|
|
NM_000152.5(GAA):c.1293G>T (p.Leu431=)
|
rs1172862164
|
|
|
NM_000152.5(GAA):c.1296C>T (p.His432=)
|
rs2143858058
|
|
|
NM_000152.5(GAA):c.1306C>A (p.Arg436=)
|
|
|
|
NM_000152.5(GAA):c.1311C>T (p.Arg437=)
|
rs1234415461
|
|
|
NM_000152.5(GAA):c.1314C>T (p.Tyr438=)
|
|
|
|
NM_000152.5(GAA):c.1323C>A (p.Ile441=)
|
|
|
|
NM_000152.5(GAA):c.1326+12C>G
|
|
|
|
NM_000152.5(GAA):c.1326+15A>G
|
rs2143858786
|
|
|
NM_000152.5(GAA):c.1326+16C>G
|
|
|
|
NM_000152.5(GAA):c.1326+16C>T
|
|
|
|
NM_000152.5(GAA):c.1326+20G>T
|
rs774138443
|
|
|
NM_000152.5(GAA):c.1326+7G>A
|
|
|
|
NM_000152.5(GAA):c.1326+8C>G
|
|
|
|
NM_000152.5(GAA):c.1326+8C>T
|
rs762988038
|
|
|
NM_000152.5(GAA):c.1327-10C>T
|
|
|
|
NM_000152.5(GAA):c.1327-12C>T
|
|
|
|
NM_000152.5(GAA):c.1327-16G>A
|
|
|
|
NM_000152.5(GAA):c.1327-16G>T
|
rs1378637239
|
|
|
NM_000152.5(GAA):c.1327-18A>C
|
|
|
|
NM_000152.5(GAA):c.1327-19_1327-18inv
|
|
|
|
NM_000152.5(GAA):c.1327-20A>G
|
rs2143865452
|
|
|
NM_000152.5(GAA):c.1327-4C>T
|
|
|
|
NM_000152.5(GAA):c.1327-5C>A
|
rs1314883749
|
|
|
NM_000152.5(GAA):c.1327-5C>T
|
|
|
|
NM_000152.5(GAA):c.1327-8C>T
|
rs1598579967
|
|
|
NM_000152.5(GAA):c.1327-9T>C
|
|
|
|
NM_000152.5(GAA):c.132C>T (p.Gly44=)
|
rs2143825106
|
|
|
NM_000152.5(GAA):c.1341C>T (p.Ser447=)
|
|
|
|
NM_000152.5(GAA):c.1346C>T (p.Ser449Leu)
|
rs753483808
|
|
|
NM_000152.5(GAA):c.1347G>C (p.Ser449=)
|
rs756938942
|
|
|
NM_000152.5(GAA):c.1359G>A (p.Gly453=)
|
rs2143866026
|
|
|
NM_000152.5(GAA):c.135C>T (p.Ser45=)
|
rs2143825187
|
|
|
NM_000152.5(GAA):c.1362C>T (p.Ser454=)
|
|
|
|
NM_000152.5(GAA):c.1386G>T (p.Leu462=)
|
|
|
|
NM_000152.5(GAA):c.138C>G (p.Ser46=)
|
rs753375900
|
|
|
NM_000152.5(GAA):c.1390A>C (p.Arg464=)
|
|
|
|
NM_000152.5(GAA):c.1392G>A (p.Arg464=)
|
rs372786811
|
|
|
NM_000152.5(GAA):c.1395G>A (p.Gly465=)
|
rs2143866655
|
|
|
NM_000152.5(GAA):c.1416C>A (p.Thr472=)
|
rs368492669
|
|
|
NM_000152.5(GAA):c.1416C>G (p.Thr472=)
|
rs368492669
|
|
|
NM_000152.5(GAA):c.1422G>A (p.Gln474=)
|
|
|
|
NM_000152.5(GAA):c.1426C>T (p.Leu476=)
|
|
|
|
NM_000152.5(GAA):c.1434G>A (p.Gly478=)
|
rs886043285
|
|
|
NM_000152.5(GAA):c.1437+15C>T
|
rs2143867420
|
|
|
NM_000152.5(GAA):c.1437+16A>G
|
|
|
|
NM_000152.5(GAA):c.1437+16_1437+22dup
|
|
|
|
NM_000152.5(GAA):c.1437+18G>C
|
|
|
|
NM_000152.5(GAA):c.1437+20G>A
|
rs768737799
|
|
|
NM_000152.5(GAA):c.1437+20G>C
|
|
|
|
NM_000152.5(GAA):c.1437+20G>T
|
|
|
|
NM_000152.5(GAA):c.1437+7C>G
|
rs757605518
|
|
|
NM_000152.5(GAA):c.1437+7C>T
|
rs757605518
|
|
|
NM_000152.5(GAA):c.1437+8G>C
|
rs779194427
|
|
|
NM_000152.5(GAA):c.1438-12C>G
|
|
|
|
NM_000152.5(GAA):c.1438-12C>T
|
|
|
|
NM_000152.5(GAA):c.1438-13T>C
|
rs1598581379
|
|
|
NM_000152.5(GAA):c.1438-14C>T
|
|
|
|
NM_000152.5(GAA):c.1438-15_1438-1del
|
rs1567832762
|
|
|
NM_000152.5(GAA):c.1438-19G>A
|
|
|
|
NM_000152.5(GAA):c.1438-6G>C
|
rs1252384762
|
|
|
NM_000152.5(GAA):c.1438-7T>C
|
rs1484346995
|
|
|
NM_000152.5(GAA):c.1438-9G>C
|
|
|
|
NM_000152.5(GAA):c.1438-9G>T
|
rs202211401
|
|
|
NM_000152.5(GAA):c.1440A>G (p.Val480=)
|
rs1555600737
|
|
|
NM_000152.5(GAA):c.144C>T (p.Val48=)
|
rs1055575232
|
|
|
NM_000152.5(GAA):c.1455T>C (p.Thr485=)
|
rs774037839
|
|
|
NM_000152.5(GAA):c.1461C>T (p.Phe487=)
|
|
|
|
NM_000152.5(GAA):c.147G>A (p.Leu49=)
|
rs915625623
|
|
|
NM_000152.5(GAA):c.1486C>T (p.Leu496=)
|
rs1598581572
|
|
|
NM_000152.5(GAA):c.1509G>A (p.Val503=)
|
rs2143872732
|
|
|
NM_000152.5(GAA):c.1518C>T (p.Phe506=)
|
rs1464913441
|
|
|
NM_000152.5(GAA):c.1527G>A (p.Gln509=)
|
|
|
|
NM_000152.5(GAA):c.1533C>G (p.Pro511=)
|
rs1598581655
|
|
|
NM_000152.5(GAA):c.1536C>T (p.Phe512=)
|
rs143491365
|
|
|
NM_000152.5(GAA):c.1551+10G>A
|
|
|
|
NM_000152.5(GAA):c.1551+10dup
|
rs2143873218
|
|
|
NM_000152.5(GAA):c.1551+11C>T
|
|
|
|
NM_000152.5(GAA):c.1551+15C>G
|
|
|
|
NM_000152.5(GAA):c.1551+20G>A
|
|
|
|
NM_000152.5(GAA):c.1551+7G>T
|
rs1340464172
|
|
|
NM_000152.5(GAA):c.1552-10del
|
|
|
|
NM_000152.5(GAA):c.1552-12C>A
|
rs2143873890
|
|
|
NM_000152.5(GAA):c.1552-16A>G
|
|
|
|
NM_000152.5(GAA):c.1552-20C>T
|
|
|
|
NM_000152.5(GAA):c.1552-7C>G
|
|
|
|
NM_000152.5(GAA):c.1552-7C>T
|
rs2039221235
|
|
|
NM_000152.5(GAA):c.1552-8T>C
|
rs2039221161
|
|
|
NM_000152.5(GAA):c.156T>A (p.Thr52=)
|
rs2143825403
|
|
|
NM_000152.5(GAA):c.1572C>T (p.Asn524=)
|
rs1417304813
|
|
|
NM_000152.5(GAA):c.159C>T (p.His53=)
|
rs2143825464
|
|
|
NM_000152.5(GAA):c.1602C>A (p.Pro534=)
|
rs1241189076
|
|
|
NM_000152.5(GAA):c.1612C>T (p.Leu538=)
|
|
|
|
NM_000152.5(GAA):c.1632G>C (p.Val544=)
|
|
|
|
NM_000152.5(GAA):c.1632G>T (p.Val544=)
|
|
|
|
NM_000152.5(GAA):c.1636+10C>G
|
rs778634411
|
|
|
NM_000152.5(GAA):c.1636+10C>T
|
rs778634411
|
|
|
NM_000152.5(GAA):c.1636+11C>T
|
|
|
|
NM_000152.5(GAA):c.1636+12C>G
|
|
|
|
NM_000152.5(GAA):c.1636+12C>T
|
|
|
|
NM_000152.5(GAA):c.1636+15C>G
|
|
|
|
NM_000152.5(GAA):c.1636+15C>T
|
|
|
|
NM_000152.5(GAA):c.1636+15dup
|
rs765563836
|
|
|
NM_000152.5(GAA):c.1636+17C>T
|
rs1003384850
|
|
|
NM_000152.5(GAA):c.1636+18C>T
|
|
|
|
NM_000152.5(GAA):c.1636+19T>A
|
|
|
|
NM_000152.5(GAA):c.1636+7del
|
|
|
|
NM_000152.5(GAA):c.1636+9G>T
|
rs200302174
|
|
|
NM_000152.5(GAA):c.1637-10C>T
|
rs2143881993
|
|
|
NM_000152.5(GAA):c.1637-11G>C
|
|
|
|
NM_000152.5(GAA):c.1637-19C>T
|
|
|
|
NM_000152.5(GAA):c.1637-9C>T
|
rs1598583515
|
|
|
NM_000152.5(GAA):c.1638G>A (p.Gly546=)
|
rs1260256483
|
|
|
NM_000152.5(GAA):c.1650G>A (p.Gly550=)
|
rs747638133
|
|
|
NM_000152.5(GAA):c.1656C>A (p.Leu552=)
|
rs2039246860
|
|
|
NM_000152.5(GAA):c.1668C>T (p.Thr556=)
|
rs1415372735
|
|
|
NM_000152.5(GAA):c.1671C>A (p.Ile557=)
|
|
|
|
NM_000152.5(GAA):c.1674T>C (p.Cys558=)
|
rs2143882693
|
|
|
NM_000152.5(GAA):c.1680C>T (p.Ser560=)
|
rs2143882734
|
|
|
NM_000152.5(GAA):c.1683C>T (p.Ser561=)
|
rs2143882764
|
|
|
NM_000152.5(GAA):c.1686C>T (p.His562=)
|
|
|
|
NM_000152.5(GAA):c.1692T>C (p.Phe564=)
|
rs886043997
|
|
|
NM_000152.5(GAA):c.1695C>G (p.Leu565=)
|
rs2143882915
|
|
|
NM_000152.5(GAA):c.1704C>T (p.His568=)
|
rs776882059
|
|
|
NM_000152.5(GAA):c.1711C>T (p.Leu571=)
|
rs1405669960
|
|
|
NM_000152.5(GAA):c.1716C>T (p.His572=)
|
rs772962666
|
|
|
NM_000152.5(GAA):c.1719C>T (p.Asn573=)
|
rs1175728529
|
|
|
NM_000152.5(GAA):c.1722C>T (p.Leu574=)
|
rs561357893
|
|
|
NM_000152.5(GAA):c.1728C>G (p.Gly576=)
|
rs2143883499
|
|
|
NM_000152.5(GAA):c.1728C>T (p.Gly576=)
|
|
|
|
NM_000152.5(GAA):c.1731G>A (p.Leu577=)
|
|
|
|
NM_000152.5(GAA):c.1731G>T (p.Leu577=)
|
|
|
|
NM_000152.5(GAA):c.1734C>T (p.Thr578=)
|
rs149384771
|
|
|
NM_000152.5(GAA):c.1743C>T (p.Ile581=)
|
rs527970795
|
|
|
NM_000152.5(GAA):c.1746C>T (p.Ala582=)
|
|
|
|
NM_000152.5(GAA):c.1752C>T (p.His584=)
|
|
|
|
NM_000152.5(GAA):c.1754+12G>T
|
|
|
|
NM_000152.5(GAA):c.1754+15C>T
|
|
|
|
NM_000152.5(GAA):c.1754+18C>T
|
|
|
|
NM_000152.5(GAA):c.1754+9C>G
|
rs1319204794
|
|
|
NM_000152.5(GAA):c.1755-12C>A
|
|
|
|
NM_000152.5(GAA):c.1755-16del
|
|
|
|
NM_000152.5(GAA):c.1755-17G>A
|
|
|
|
NM_000152.5(GAA):c.1755-19G>A
|
|
|
|
NM_000152.5(GAA):c.1755-20G>A
|
|
|
|
NM_000152.5(GAA):c.1755-5C>T
|
|
|
|
NM_000152.5(GAA):c.1755-8C>G
|
|
|
|
NM_000152.5(GAA):c.1755-9C>T
|
|
|
|
NM_000152.5(GAA):c.1758G>T (p.Ala586=)
|
rs79795428
|
|
|
NM_000152.5(GAA):c.1764G>A (p.Val588=)
|
rs2143887715
|
|
|
NM_000152.5(GAA):c.1776G>A (p.Gly592=)
|
rs1317655623
|
|
|
NM_000152.5(GAA):c.1776G>C (p.Gly592=)
|
rs1317655623
|
|
|
NM_000152.5(GAA):c.1782C>A (p.Arg594=)
|
|
|
|
NM_000152.5(GAA):c.1782C>T (p.Arg594=)
|
|
|
|
NM_000152.5(GAA):c.1791G>C (p.Val597=)
|
rs2039262436
|
|
|
NM_000152.5(GAA):c.1797C>T (p.Ser599=)
|
rs761377657
|
|
|
NM_000152.5(GAA):c.1800C>T (p.Arg600=)
|
rs1598584611
|
|
|
NM_000152.5(GAA):c.1803G>T (p.Ser601=)
|
rs368993048
|
|
|
NM_000152.5(GAA):c.1806C>A (p.Thr602=)
|
rs1598584645
|
|
|
NM_000152.5(GAA):c.180C>G (p.Ala60=)
|
rs2039031609
|
|
|
NM_000152.5(GAA):c.1830C>A (p.Ala610=)
|
|
|
|
NM_000152.5(GAA):c.1833C>T (p.Gly611=)
|
|
|
|
NM_000152.5(GAA):c.1842G>C (p.Thr614=)
|
rs373955374
|
|
|
NM_000152.5(GAA):c.1845G>A (p.Gly615=)
|
|
|
|
NM_000152.5(GAA):c.1851G>A (p.Val617=)
|
rs886042906
|
|
|
NM_000152.5(GAA):c.1878C>T (p.Ser626=)
|
rs2143889719
|
|
|
NM_000152.5(GAA):c.1888+10T>C
|
|
|
|
NM_000152.5(GAA):c.1888+12C>A
|
|
|
|
NM_000152.5(GAA):c.1888+15G>A
|
|
|
|
NM_000152.5(GAA):c.1888+18G>A
|
rs1452309871
|
|
|
NM_000152.5(GAA):c.1888+18G>C
|
|
|
|
NM_000152.5(GAA):c.1888+20G>C
|
|
|
|
NM_000152.5(GAA):c.1889-12_1889-11del
|
rs777483558
|
|
|
NM_000152.5(GAA):c.1889-13T>C
|
|
|
|
NM_000152.5(GAA):c.1889-15A>T
|
|
|
|
NM_000152.5(GAA):c.1889-18C>G
|
|
|
|
NM_000152.5(GAA):c.1889-20G>A
|
|
|
|
NM_000152.5(GAA):c.1889-4C>T
|
|
|
|
NM_000152.5(GAA):c.1889-5C>T
|
rs794727115
|
|
|
NM_000152.5(GAA):c.1889-7C>T
|
|
|
|
NM_000152.5(GAA):c.1893C>T (p.Ile631=)
|
rs1598585395
|
|
|
NM_000152.5(GAA):c.1896G>T (p.Leu632=)
|
|
|
|
NM_000152.5(GAA):c.189A>C (p.Pro63=)
|
|
|
|
NM_000152.5(GAA):c.18G>A (p.Pro6=)
|
rs774703637
|
|
|
NM_000152.5(GAA):c.1902T>C (p.Phe634=)
|
|
|
|
NM_000152.5(GAA):c.1905C>T (p.Asn635=)
|
rs1414146587
|
|
|
NM_000152.5(GAA):c.1906C>T (p.Leu636=)
|
rs1296740179
|
|
|
NM_000152.5(GAA):c.1908G>C (p.Leu636=)
|
|
|
|
NM_000152.5(GAA):c.1911G>A (p.Leu637=)
|
|
|
|
NM_000152.5(GAA):c.1914G>A (p.Gly638=)
|
rs1305357140
|
|
|
NM_000152.5(GAA):c.1926C>G (p.Val642=)
|
rs1346499760
|
|
|
NM_000152.5(GAA):c.1935C>T (p.Asp645=)
|
rs28940868
|
|
|
NM_000152.5(GAA):c.1941C>T (p.Cys647=)
|
rs776948121
|
|
|
NM_000152.5(GAA):c.1947C>T (p.Phe649=)
|
rs770248553
|
|
|
NM_000152.5(GAA):c.1948C>T (p.Leu650=)
|
|
|
|
NM_000152.5(GAA):c.1950G>C (p.Leu650=)
|
|
|
|
NM_000152.5(GAA):c.1953C>T (p.Gly651=)
|
|
|
|
NM_000152.5(GAA):c.1956C>T (p.Asn652=)
|
|
|
|
NM_000152.5(GAA):c.1962A>G (p.Ser654=)
|
rs2143892394
|
|
|
NM_000152.5(GAA):c.1971G>A (p.Leu657=)
|
|
|
|
NM_000152.5(GAA):c.1986C>T (p.Thr662=)
|
rs2039278843
|
|
|
NM_000152.5(GAA):c.1989G>A (p.Gln663=)
|
rs1189531783
|
|
|
NM_000152.5(GAA):c.198G>A (p.Arg66=)
|
rs2143825886
|
|
|
NM_000152.5(GAA):c.2001C>T (p.Phe667=)
|
|
|
|
NM_000152.5(GAA):c.2004C>T (p.Tyr668=)
|
|
|
|
NM_000152.5(GAA):c.2007C>T (p.Pro669=)
|
|
|
|
NM_000152.5(GAA):c.2016G>A (p.Arg672=)
|
|
|
|
NM_000152.5(GAA):c.2019C>T (p.Asn673=)
|
|
|
|
NM_000152.5(GAA):c.2022C>T (p.His674=)
|
|
|
|
NM_000152.5(GAA):c.2028C>T (p.Ser676=)
|
rs1209690340
|
|
|
NM_000152.5(GAA):c.2029C>T (p.Leu677=)
|
rs1272817506
|
|
|
NM_000152.5(GAA):c.2040+11_2040+18dup
|
rs745338070
|
|
|
NM_000152.5(GAA):c.2040+13T>C
|
|
|
|
NM_000152.5(GAA):c.2040+14G>A
|
|
|
|
NM_000152.5(GAA):c.2040+15G>A
|
|
|
|
NM_000152.5(GAA):c.2040+18G>A
|
|
|
|
NM_000152.5(GAA):c.2040+18G>T
|
|
|
|
NM_000152.5(GAA):c.2040+8G>C
|
rs779647712
|
|
|
NM_000152.5(GAA):c.2040+8G>T
|
rs779647712
|
|
|
NM_000152.5(GAA):c.2040+9G>A
|
|
|
|
NM_000152.5(GAA):c.2040+9G>C
|
|
|
|
NM_000152.5(GAA):c.2041-15C>G
|
|
|
|
NM_000152.5(GAA):c.2041-17C>A
|
rs746028622
|
|
|
NM_000152.5(GAA):c.2041-20T>C
|
|
|
|
NM_000152.5(GAA):c.2041-4G>A
|
rs775757700
|
|
|
NM_000152.5(GAA):c.2041-9G>A
|
rs912717099
|
|
|
NM_000152.5(GAA):c.2041-9G>T
|
|
|
|
NM_000152.5(GAA):c.2043C>A (p.Pro681=)
|
rs764174168
|
|
|
NM_000152.5(GAA):c.2043C>G (p.Pro681=)
|
|
|
|
NM_000152.5(GAA):c.2043C>T (p.Pro681=)
|
rs764174168
|
|
|
NM_000152.5(GAA):c.2049G>A (p.Glu683=)
|
|
|
|
NM_000152.5(GAA):c.204C>T (p.Ala68=)
|
rs2143825931
|
|
|
NM_000152.5(GAA):c.2052G>T (p.Pro684=)
|
rs546463058
|
|
|
NM_000152.5(GAA):c.2055C>T (p.Tyr685=)
|
rs750214208
|
|
|
NM_000152.5(GAA):c.2064C>T (p.Ser688=)
|
rs140996643
|
|
|
NM_000152.5(GAA):c.2070G>C (p.Pro690=)
|
|
|
|
NM_000152.5(GAA):c.207G>A (p.Gln69=)
|
rs2039032628
|
|
|
NM_000152.5(GAA):c.2082C>T (p.Ala694=)
|
|
|
|
NM_000152.5(GAA):c.2088G>A (p.Arg696=)
|
rs2143895840
|
|
|
NM_000152.5(GAA):c.2091G>A (p.Lys697=)
|
rs2143895855
|
|
|
NM_000152.5(GAA):c.2100C>A (p.Thr700=)
|
|
|
|
NM_000152.5(GAA):c.2100C>T (p.Thr700=)
|
rs199571088
|
|
|
NM_000152.5(GAA):c.2112A>C (p.Ala704=)
|
rs1449566083
|
|
|
NM_000152.5(GAA):c.2112A>G (p.Ala704=)
|
rs1449566083
|
|
|
NM_000152.5(GAA):c.2115C>G (p.Leu705=)
|
|
|
|
NM_000152.5(GAA):c.2115C>T (p.Leu705=)
|
rs372881095
|
|
|
NM_000152.5(GAA):c.2118C>G (p.Leu706=)
|
rs1479318289
|
|
|
NM_000152.5(GAA):c.2121C>T (p.Pro707=)
|
|
|
|
NM_000152.5(GAA):c.2124C>T (p.His708=)
|
rs751187069
|
|
|
NM_000152.5(GAA):c.2134C>T (p.Leu712=)
|
rs752233229
|
|
|
NM_000152.5(GAA):c.213C>T (p.His71=)
|
|
|
|
NM_000152.5(GAA):c.2148C>A (p.Ala716=)
|
rs750907936
|
|
|
NM_000152.5(GAA):c.2148C>G (p.Ala716=)
|
rs750907936
|
|
|
NM_000152.5(GAA):c.2154C>G (p.Val718=)
|
rs1800311
|
|
|
NM_000152.5(GAA):c.2155G>T (p.Ala719Ser)
|
rs143324027
|
|
|
NM_000152.5(GAA):c.2157G>C (p.Ala719=)
|
|
|
|
NM_000152.5(GAA):c.2157G>T (p.Ala719=)
|
|
|
|
NM_000152.5(GAA):c.2163G>A (p.Glu721=)
|
rs2143896953
|
|
|
NM_000152.5(GAA):c.2166C>G (p.Thr722=)
|
|
|
|
NM_000152.5(GAA):c.2169G>A (p.Val723=)
|
|
|
|
NM_000152.5(GAA):c.2172C>T (p.Ala724=)
|
rs2039292373
|
|
|
NM_000152.5(GAA):c.2175G>T (p.Arg725=)
|
rs2143897169
|
|
|
NM_000152.5(GAA):c.2178C>A (p.Pro726=)
|
rs1226457670
|
|
|
NM_000152.5(GAA):c.2178C>G (p.Pro726=)
|
|
|
|
NM_000152.5(GAA):c.2178C>T (p.Pro726=)
|
rs1226457670
|
|
|
NM_000152.5(GAA):c.2185C>T (p.Leu729=)
|
|
|
|
NM_000152.5(GAA):c.2189+10_2189+11del
|
|
|
|
NM_000152.5(GAA):c.2189+16del
|
|
|
|
NM_000152.5(GAA):c.2189+9C>G
|
rs2039293292
|
|
|
NM_000152.5(GAA):c.2189+9C>T
|
rs2039293292
|
|
|
NM_000152.5(GAA):c.2190-16C>T
|
|
|
|
NM_000152.5(GAA):c.2190-20T>C
|
rs1485579975
|
|
|
NM_000152.5(GAA):c.2190-20T>G
|
|
|
|
NM_000152.5(GAA):c.2190-7C>G
|
|
|
|
NM_000152.5(GAA):c.2190-9C>A
|
|
|
|
NM_000152.5(GAA):c.2193C>T (p.Phe731=)
|
|
|
|
NM_000152.5(GAA):c.2196C>A (p.Pro732=)
|
rs915890435
|
|
|
NM_000152.5(GAA):c.21C>T (p.Pro7=)
|
rs2143823837
|
|
|
NM_000152.5(GAA):c.2205T>C (p.Ser735=)
|
rs2143918429
|
|
|
NM_000152.5(GAA):c.2207G>A (p.Ser736Asn)
|
rs553430197
|
|
|
NM_000152.5(GAA):c.2211C>G (p.Thr737=)
|
rs2143918476
|
|
|
NM_000152.5(GAA):c.2211C>T (p.Thr737=)
|
rs2143918476
|
|
|
NM_000152.5(GAA):c.2215A>T (p.Thr739Ser)
|
rs578245757
|
|
|
NM_000152.5(GAA):c.2220G>A (p.Val740=)
|
|
|
|
NM_000152.5(GAA):c.2223C>T (p.Asp741=)
|
rs767773929
|
|
|
NM_000152.5(GAA):c.2226C>T (p.His742=)
|
|
|
|
NM_000152.5(GAA):c.2229G>A (p.Gln743=)
|
rs2143918741
|
|
|
NM_000152.5(GAA):c.2232C>T (p.Leu744=)
|
|
|
|
NM_000152.5(GAA):c.2235G>A (p.Leu745=)
|
rs1429277920
|
|
|
NM_000152.5(GAA):c.2235G>C (p.Leu745=)
|
rs1429277920
|
|
|
NM_000152.5(GAA):c.2235G>T (p.Leu745=)
|
|
|
|
NM_000152.5(GAA):c.2244G>A (p.Glu748=)
|
|
|
|
NM_000152.5(GAA):c.2247C>A (p.Ala749=)
|
|
|
|
NM_000152.5(GAA):c.2248C>T (p.Leu750=)
|
rs2143919200
|
|
|
NM_000152.5(GAA):c.2268C>T (p.Leu756=)
|
rs746873847
|
|
|
NM_000152.5(GAA):c.2289G>A (p.Val763=)
|
rs767871949
|
|
|
NM_000152.5(GAA):c.2289G>C (p.Val763=)
|
rs767871949
|
|
|
NM_000152.5(GAA):c.2304C>G (p.Pro768=)
|
|
|
|
NM_000152.5(GAA):c.2307G>A (p.Leu769=)
|
rs372800172
|
|
|
NM_000152.5(GAA):c.2325G>A (p.Leu775=)
|
rs2143920372
|
|
|
NM_000152.5(GAA):c.2331+12G>A
|
|
|
|
NM_000152.5(GAA):c.2331+12G>C
|
|
|
|
NM_000152.5(GAA):c.2331+12G>T
|
|
|
|
NM_000152.5(GAA):c.2331+14C>T
|
rs772727792
|
|
|
NM_000152.5(GAA):c.2331+17del
|
|
|
|
NM_000152.5(GAA):c.2331+19dup
|
|
|
|
NM_000152.5(GAA):c.2331+20G>T
|
|
|
|
NM_000152.5(GAA):c.2331+7C>G
|
|
|
|
NM_000152.5(GAA):c.2332-12A>G
|
|
|
|
NM_000152.5(GAA):c.2332-16C>T
|
rs2039383167
|
|
|
NM_000152.5(GAA):c.2332-5T>G
|
rs1276069832
|
|
|
NM_000152.5(GAA):c.2332-7C>A
|
|
|
|
NM_000152.5(GAA):c.2332-7C>T
|
|
|
|
NM_000152.5(GAA):c.2332-8C>T
|
rs2143924023
|
|
|
NM_000152.5(GAA):c.2332-9T>C
|
|
|
|
NM_000152.5(GAA):c.2337A>G (p.Pro779=)
|
rs1042838087
|
|
|
NM_000152.5(GAA):c.2349T>C (p.Leu783=)
|
|
|
|
NM_000152.5(GAA):c.2355C>T (p.Ser785=)
|
rs2143924314
|
|
|
NM_000152.5(GAA):c.2358C>A (p.Leu786=)
|
|
|
|
NM_000152.5(GAA):c.2361A>G (p.Pro787=)
|
|
|
|
NM_000152.5(GAA):c.2364C>T (p.Pro788=)
|
|
|
|
NM_000152.5(GAA):c.2367A>G (p.Pro789=)
|
rs1012503581
|
|
|
NM_000152.5(GAA):c.2370T>C (p.Pro790=)
|
|
|
|
NM_000152.5(GAA):c.237C>T (p.Pro79=)
|
|
|
|
NM_000152.5(GAA):c.2385G>A (p.Glu795=)
|
rs1333952509
|
|
|
NM_000152.5(GAA):c.2388A>G (p.Pro796=)
|
|
|
|
NM_000152.5(GAA):c.2391C>G (p.Ala797=)
|
|
|
|
NM_000152.5(GAA):c.2391C>T (p.Ala797=)
|
rs767494597
|
|
|
NM_000152.5(GAA):c.2403G>A (p.Glu801=)
|
rs2143924963
|
|
|
NM_000152.5(GAA):c.2409G>A (p.Gln803=)
|
rs778506693
|
|
|
NM_000152.5(GAA):c.2415G>T (p.Val805=)
|
rs150536507
|
|
|
NM_000152.5(GAA):c.2418G>T (p.Thr806=)
|
rs371528938
|
|
|
NM_000152.5(GAA):c.2427C>T (p.Ala809=)
|
rs766325117
|
|
|
NM_000152.5(GAA):c.2430C>G (p.Pro810=)
|
rs554839058
|
|
|
NM_000152.5(GAA):c.2430C>T (p.Pro810=)
|
rs554839058
|
|
|
NM_000152.5(GAA):c.2439C>A (p.Thr813=)
|
|
|
|
NM_000152.5(GAA):c.2439C>T (p.Thr813=)
|
rs2143925559
|
|
|
NM_000152.5(GAA):c.2442C>T (p.Ile814=)
|
|
|
|
NM_000152.5(GAA):c.2451C>T (p.His817=)
|
rs753382861
|
|
|
NM_000152.5(GAA):c.2466C>T (p.Tyr822=)
|
rs2039389205
|
|
|
NM_000152.5(GAA):c.2469C>T (p.Ile823=)
|
|
|
|
NM_000152.5(GAA):c.2472C>A (p.Ile824=)
|
|
|
|
NM_000152.5(GAA):c.2472C>T (p.Ile824=)
|
rs2039389492
|
|
|
NM_000152.5(GAA):c.2475C>T (p.Pro825=)
|
|
|
|
NM_000152.5(GAA):c.2481+10C>A
|
|
|
|
NM_000152.5(GAA):c.2481+20A>G
|
|
|
|
NM_000152.5(GAA):c.2481+7G>A
|
rs770240317
|
|
|
NM_000152.5(GAA):c.2481+8G>T
|
|
|
|
NM_000152.5(GAA):c.2482-12T>C
|
|
|
|
NM_000152.5(GAA):c.2482-16G>A
|
|
|
|
NM_000152.5(GAA):c.2482-17T>C
|
|
|
|
NM_000152.5(GAA):c.2482-5T>C
|
rs1290870969
|
|
|
NM_000152.5(GAA):c.2482-8C>A
|
rs1407022252
|
|
|
NM_000152.5(GAA):c.2482-8C>G
|
rs1407022252
|
|
|
NM_000152.5(GAA):c.2482-8C>T
|
rs1407022252
|
|
|
NM_000152.5(GAA):c.2482-9C>A
|
|
|
|
NM_000152.5(GAA):c.2482-9C>T
|
rs753210535
|
|
|
NM_000152.5(GAA):c.2496A>C (p.Thr832=)
|
|
|
|
NM_000152.5(GAA):c.2496A>G (p.Thr832=)
|
rs2143929451
|
|
|
NM_000152.5(GAA):c.24C>T (p.Cys8=)
|
|
|
|
NM_000152.5(GAA):c.2511C>T (p.Arg837=)
|
|
|
|
NM_000152.5(GAA):c.2517G>A (p.Gln839=)
|
|
|
|
NM_000152.5(GAA):c.2520C>T (p.Pro840=)
|
rs1054395487
|
|
|
NM_000152.5(GAA):c.2526C>G (p.Ala842=)
|
rs886038259
|
|
|
NM_000152.5(GAA):c.2529G>A (p.Leu843=)
|
rs2039403061
|
|
|
NM_000152.5(GAA):c.2529G>C (p.Leu843=)
|
|
|
|
NM_000152.5(GAA):c.252C>A (p.Val84=)
|
rs775079960
|
|
|
NM_000152.5(GAA):c.252C>T (p.Val84=)
|
rs775079960
|
|
|
NM_000152.5(GAA):c.2539C>T (p.Leu847=)
|
|
|
|
NM_000152.5(GAA):c.2544C>G (p.Thr848=)
|
|
|
|
NM_000152.5(GAA):c.2547G>A (p.Lys849=)
|
|
|
|
NM_000152.5(GAA):c.2550T>G (p.Gly850=)
|
rs761608706
|
|
|
NM_000152.5(GAA):c.2553G>C (p.Gly851=)
|
rs1042397
|
|
|
NM_000152.5(GAA):c.2559C>G (p.Ala853=)
|
rs2143930088
|
|
|
NM_000152.5(GAA):c.255C>G (p.Pro85=)
|
rs1448106804
|
|
|
NM_000152.5(GAA):c.2571G>A (p.Leu857=)
|
|
|
|
NM_000152.5(GAA):c.2583T>C (p.Asp861=)
|
|
|
|
NM_000152.5(GAA):c.258C>G (p.Pro86=)
|
|
|
|
NM_000152.5(GAA):c.2593C>T (p.Leu865=)
|
rs2143930457
|
|
|
NM_000152.5(GAA):c.2595G>A (p.Leu865=)
|
rs2143930470
|
|
|
NM_000152.5(GAA):c.2598A>G (p.Glu866=)
|
|
|
|
NM_000152.5(GAA):c.2604G>T (p.Leu868=)
|
rs772250523
|
|
|
NM_000152.5(GAA):c.2608C>A (p.Arg870=)
|
rs780321415
|
|
|
NM_000152.5(GAA):c.2616C>T (p.Ala872=)
|
|
|
|
NM_000152.5(GAA):c.2625G>A (p.Gln875=)
|
rs2039406110
|
|
|
NM_000152.5(GAA):c.2643G>A (p.Arg881=)
|
rs1160268139
|
|
|
NM_000152.5(GAA):c.2646+12G>A
|
|
|
|
NM_000152.5(GAA):c.2646+19C>T
|
|
|
|
NM_000152.5(GAA):c.2646+7C>G
|
rs2143931099
|
|
|
NM_000152.5(GAA):c.2646+7C>T
|
|
|
|
NM_000152.5(GAA):c.2646+8C>T
|
|
|
|
NM_000152.5(GAA):c.2646+8del
|
rs2039406901
|
|
|
NM_000152.5(GAA):c.2646+9T>C
|
rs1231487778
|
|
|
NM_000152.5(GAA):c.2647-10C>T
|
rs2143933140
|
|
|
NM_000152.5(GAA):c.2647-11G>C
|
rs2039413131
|
|
|
NM_000152.5(GAA):c.2647-12T>C
|
|
|
|
NM_000152.5(GAA):c.2647-12dup
|
|
|
|
NM_000152.5(GAA):c.2647-14T>A
|
|
|
|
NM_000152.5(GAA):c.2647-15C>G
|
rs1567840763
|
|
|
NM_000152.5(GAA):c.2647-17C>G
|
|
|
|
NM_000152.5(GAA):c.2647-23del
|
rs749000061
|
|
|
NM_000152.5(GAA):c.2647-25_2647-18del
|
|
|
|
NM_000152.5(GAA):c.2647-4C>T
|
|
|
|
NM_000152.5(GAA):c.2647-6G>A
|
rs201525743
|
|
|
NM_000152.5(GAA):c.2647-7G>C
|
|
|
|
NM_000152.5(GAA):c.2647-7G>T
|
|
|
|
NM_000152.5(GAA):c.2647-8C>G
|
rs139201641
|
|
|
NM_000152.5(GAA):c.2652G>C (p.Thr884=)
|
|
|
|
NM_000152.5(GAA):c.2652G>T (p.Thr884=)
|
|
|
|
NM_000152.5(GAA):c.2655C>A (p.Ile885=)
|
rs774840779
|
|
|
NM_000152.5(GAA):c.2658G>T (p.Val886=)
|
|
|
|
NM_000152.5(GAA):c.2665C>T (p.Leu889=)
|
rs750939444
|
|
|
NM_000152.5(GAA):c.2676G>A (p.Val892=)
|
|
|
|
NM_000152.5(GAA):c.267C>T (p.Arg89=)
|
rs2039036067
|
|
|
NM_000152.5(GAA):c.2695C>T (p.Leu899=)
|
|
|
|
NM_000152.5(GAA):c.2697G>T (p.Leu899=)
|
rs2143933626
|
|
|
NM_000152.5(GAA):c.2703G>A (p.Leu901=)
|
rs2143933710
|
|
|
NM_000152.5(GAA):c.2706G>A (p.Gln902=)
|
rs2039415234
|
|
|
NM_000152.5(GAA):c.2718C>T (p.Val906=)
|
|
|
|
NM_000152.5(GAA):c.2721G>A (p.Leu907=)
|
rs2143933909
|
|
|
NM_000152.5(GAA):c.2730C>A (p.Ala910=)
|
rs2143934007
|
|
|
NM_000152.5(GAA):c.2733G>A (p.Thr911=)
|
|
|
|
NM_000152.5(GAA):c.2736G>T (p.Ala912=)
|
|
|
|
NM_000152.5(GAA):c.2739C>T (p.Pro913=)
|
rs370765733
|
|
|
NM_000152.5(GAA):c.2751C>G (p.Leu917=)
|
|
|
|
NM_000152.5(GAA):c.2754C>A (p.Ser918=)
|
rs1598594382
|
|
|
NM_000152.5(GAA):c.2760T>C (p.Gly920=)
|
|
|
|
NM_000152.5(GAA):c.2766T>C (p.Pro922=)
|
rs2143934535
|
|
|
NM_000152.5(GAA):c.2769C>A (p.Val923=)
|
rs1272166322
|
|
|
NM_000152.5(GAA):c.2769C>T (p.Val923=)
|
rs1272166322
|
|
|
NM_000152.5(GAA):c.2772C>G (p.Ser924=)
|
|
|
|
NM_000152.5(GAA):c.2772C>T (p.Ser924=)
|
rs2039417635
|
|
|
NM_000152.5(GAA):c.2778C>T (p.Phe926=)
|
|
|
|
NM_000152.5(GAA):c.2784C>T (p.Tyr928=)
|
|
|
|
NM_000152.5(GAA):c.2790C>T (p.Pro930=)
|
rs2039418269
|
|
|
NM_000152.5(GAA):c.2793C>T (p.Asp931=)
|
rs1439341909
|
|
|
NM_000152.5(GAA):c.2796C>T (p.Thr932=)
|
rs2143934830
|
|
|
NM_000152.5(GAA):c.2799+10C>G
|
rs1482012226
|
|
|
NM_000152.5(GAA):c.2799+10C>T
|
rs1482012226
|
|
|
NM_000152.5(GAA):c.2799+12C>T
|
|
|
|
NM_000152.5(GAA):c.2799+13A>C
|
|
|
|
NM_000152.5(GAA):c.2799+15A>C
|
|
|
|
NM_000152.5(GAA):c.2799+15A>G
|
|
|
|
NM_000152.5(GAA):c.2799+16G>A
|
|
|
|
NM_000152.5(GAA):c.2799+17T>C
|
|
|
|
NM_000152.5(GAA):c.2799+18G>A
|
rs779034370
|
|
|
NM_000152.5(GAA):c.2799+18G>T
|
|
|
|
NM_000152.5(GAA):c.2800-10T>C
|
rs2143938123
|
|
|
NM_000152.5(GAA):c.2800-11C>T
|
|
|
|
NM_000152.5(GAA):c.2800-13del
|
|
|
|
NM_000152.5(GAA):c.2800-15CT[3]
|
rs770227589
|
|
|
NM_000152.5(GAA):c.2800-16G>A
|
|
|
|
NM_000152.5(GAA):c.2800-20T>A
|
|
|
|
NM_000152.5(GAA):c.2800-6T>C
|
rs2143938183
|
|
|
NM_000152.5(GAA):c.2800-9C>G
|
rs886053547
|
|
|
NM_000152.5(GAA):c.2800-9C>T
|
|
|
|
NM_000152.5(GAA):c.2817C>T (p.Val939=)
|
rs2143938445
|
|
|
NM_000152.5(GAA):c.2820G>C (p.Ser940=)
|
|
|
|
NM_000152.5(GAA):c.2821C>T (p.Leu941=)
|
|
|
|
NM_000152.5(GAA):c.2823G>A (p.Leu941=)
|
|
|
|
NM_000152.5(GAA):c.2824T>C (p.Leu942=)
|
rs780885711
|
|
|
NM_000152.5(GAA):c.2826G>A (p.Leu942=)
|
rs866970316
|
|
|
NM_000152.5(GAA):c.282T>C (p.Pro94=)
|
|
|
|
NM_000152.5(GAA):c.2850C>T (p.Ser950=)
|
|
|
|
NM_000152.5(GAA):c.2859G>A (p.Ter953=)
|
|
|
|
NM_000152.5(GAA):c.297C>G (p.Thr99=)
|
rs771846178
|
|
|
NM_000152.5(GAA):c.300G>A (p.Gln100=)
|
rs2143827134
|
|
|
NM_000152.5(GAA):c.303A>G (p.Glu101=)
|
rs2143827161
|
|
|
NM_000152.5(GAA):c.30C>T (p.His10=)
|
|
|
|
NM_000152.5(GAA):c.318C>A (p.Arg106=)
|
|
|
|
NM_000152.5(GAA):c.330C>T (p.Tyr110=)
|
|
|
|
NM_000152.5(GAA):c.333C>T (p.Ile111=)
|
|
|
|
NM_000152.5(GAA):c.348G>T (p.Gly116=)
|
rs2143827789
|
|
|
NM_000152.5(GAA):c.354G>A (p.Gln118=)
|
|
|
|
NM_000152.5(GAA):c.357A>C (p.Gly119=)
|
|
|
|
NM_000152.5(GAA):c.381C>T (p.Cys127=)
|
|
|
|
NM_000152.5(GAA):c.393C>G (p.Pro131=)
|
rs769276948
|
|
|
NM_000152.5(GAA):c.399C>T (p.Tyr133=)
|
|
|
|
NM_000152.5(GAA):c.411G>A (p.Lys137=)
|
|
|
|
NM_000152.5(GAA):c.414G>A (p.Leu138=)
|
|
|
|
NM_000152.5(GAA):c.423G>A (p.Leu141=)
|
|
|
|
NM_000152.5(GAA):c.423G>T (p.Leu141=)
|
rs2143828533
|
|
|
NM_000152.5(GAA):c.42C>T (p.Ala14=)
|
rs141377453
|
|
|
NM_000152.5(GAA):c.456G>C (p.Leu152=)
|
rs1477781307
|
|
|
NM_000152.5(GAA):c.468C>G (p.Thr156=)
|
rs145849611
|
|
|
NM_000152.5(GAA):c.480C>T (p.Phe160=)
|
|
|
|
NM_000152.5(GAA):c.498C>T (p.Thr166=)
|
|
|
|
NM_000152.5(GAA):c.499C>T (p.Leu167=)
|
|
|
|
NM_000152.5(GAA):c.501G>A (p.Leu167=)
|
rs1276415397
|
|
|
NM_000152.5(GAA):c.501_502delinsAA (p.Leu167_Arg168=)
|
rs2143829361
|
|
|
NM_000152.5(GAA):c.502C>A (p.Arg168=)
|
|
|
|
NM_000152.5(GAA):c.504G>T (p.Arg168=)
|
|
|
|
NM_000152.5(GAA):c.513G>C (p.Val171=)
|
|
|
|
NM_000152.5(GAA):c.522G>A (p.Glu174=)
|
|
|
|
NM_000152.5(GAA):c.525T>C (p.Thr175=)
|
rs2039047153
|
|
|
NM_000152.5(GAA):c.531C>T (p.Asn177=)
|
rs886053544
|
|
|
NM_000152.5(GAA):c.534C>G (p.Arg178=)
|
rs765613378
|
|
|
NM_000152.5(GAA):c.543C>T (p.Phe181=)
|
rs1567826499
|
|
|
NM_000152.5(GAA):c.546+10G>A
|
|
|
|
NM_000152.5(GAA):c.546+12_546+17del
|
rs1567826548
|
|
|
NM_000152.5(GAA):c.546+12_546+17dup
|
|
|
|
NM_000152.5(GAA):c.546+13GGGGCG[3]
|
|
|
|
NM_000152.5(GAA):c.546+16G>A
|
|
|
|
NM_000152.5(GAA):c.546+16G>C
|
rs1043184942
|
|
|
NM_000152.5(GAA):c.546+16G>T
|
|
|
|
NM_000152.5(GAA):c.546+20G>A
|
|
|
|
NM_000152.5(GAA):c.546+20_546+25del
|
|
|
|
NM_000152.5(GAA):c.546+3GGGCA[3]
|
|
|
|
NM_000152.5(GAA):c.546+7A>G
|
rs1329049814
|
|
|
NM_000152.5(GAA):c.546+7_546+12del
|
|
|
|
NM_000152.5(GAA):c.546+8G>A
|
rs200107080
|
|
|
NM_000152.5(GAA):c.546+9G>A
|
rs2143829950
|
|
|
NM_000152.5(GAA):c.547-15C>T
|
|
|
|
NM_000152.5(GAA):c.547-16C>G
|
|
|
|
NM_000152.5(GAA):c.547-4C>A
|
rs3816256
|
|
|
NM_000152.5(GAA):c.547-9C>T
|
rs746507322
|
|
|
NM_000152.5(GAA):c.54C>G (p.Leu18=)
|
rs886053542
|
|
|
NM_000152.5(GAA):c.552A>G (p.Lys184=)
|
|
|
|
NM_000152.5(GAA):c.561T>A (p.Ala187=)
|
|
|
|
NM_000152.5(GAA):c.564C>T (p.Asn188=)
|
rs2039068461
|
|
|
NM_000152.5(GAA):c.567G>A (p.Arg189=)
|
|
|
|
NM_000152.5(GAA):c.573C>T (p.Tyr191=)
|
rs376229714
|
|
|
NM_000152.5(GAA):c.579G>A (p.Val193=)
|
rs764299738
|
|
|
NM_000152.5(GAA):c.583T>C (p.Leu195=)
|
rs1323831512
|
|
|
NM_000152.5(GAA):c.594G>C (p.Pro198=)
|
rs1426823689
|
|
|
NM_000152.5(GAA):c.594G>T (p.Pro198=)
|
rs1426823689
|
|
|
NM_000152.5(GAA):c.609G>T (p.Arg203=)
|
|
|
|
NM_000152.5(GAA):c.612A>G (p.Ala204=)
|
|
|
|
NM_000152.5(GAA):c.618C>A (p.Ser206=)
|
rs146292898
|
|
|
NM_000152.5(GAA):c.618C>G (p.Ser206=)
|
rs146292898
|
|
|
NM_000152.5(GAA):c.621A>C (p.Pro207=)
|
|
|
|
NM_000152.5(GAA):c.624C>G (p.Leu208=)
|
rs2143834295
|
|
|
NM_000152.5(GAA):c.627C>T (p.Tyr209=)
|
rs1460607546
|
|
|
NM_000152.5(GAA):c.633G>A (p.Val211=)
|
rs2143834416
|
|
|
NM_000152.5(GAA):c.639C>T (p.Phe213=)
|
rs2143834450
|
|
|
NM_000152.5(GAA):c.642C>A (p.Ser214=)
|
rs1800301
|
|
|
NM_000152.5(GAA):c.651C>A (p.Pro217=)
|
rs2039072589
|
|
|
NM_000152.5(GAA):c.657G>A (p.Gly219=)
|
rs2039072905
|
|
|
NM_000152.5(GAA):c.663C>A (p.Ile221=)
|
rs142878958
|
|
|
NM_000152.5(GAA):c.666G>A (p.Val222=)
|
|
|
|
NM_000152.5(GAA):c.678G>T (p.Leu226=)
|
|
|
|
NM_000152.5(GAA):c.684C>T (p.Gly228=)
|
|
|
|
NM_000152.5(GAA):c.688G>A (p.Val230Met)
|
rs145866792
|
|
|
NM_000152.5(GAA):c.692+11G>C
|
|
|
|
NM_000152.5(GAA):c.692+12G>A
|
rs1326313088
|
|
|
NM_000152.5(GAA):c.692+12G>T
|
rs1326313088
|
|
|
NM_000152.5(GAA):c.692+17G>A
|
|
|
|
NM_000152.5(GAA):c.692+20C>T
|
|
|
|
NM_000152.5(GAA):c.692+8C>G
|
|
|
|
NM_000152.5(GAA):c.693-10T>C
|
rs2143845612
|
|
|
NM_000152.5(GAA):c.693-11C>G
|
|
|
|
NM_000152.5(GAA):c.693-13C>T
|
rs760379754
|
|
|
NM_000152.5(GAA):c.693-14C>T
|
|
|
|
NM_000152.5(GAA):c.693-15G>A
|
|
|
|
NM_000152.5(GAA):c.693-19G>C
|
rs1271276827
|
|
|
NM_000152.5(GAA):c.693-19G>T
|
|
|
|
NM_000152.5(GAA):c.693-20G>A
|
|
|
|
NM_000152.5(GAA):c.693-4G>A
|
rs200088236
|
|
|
NM_000152.5(GAA):c.693-5del
|
rs1555599563
|
|
|
NM_000152.5(GAA):c.693-6C>G
|
|
|
|
NM_000152.5(GAA):c.693-6C>T
|
rs2143845646
|
|
|
NM_000152.5(GAA):c.693-7C>T
|
|
|
|
NM_000152.5(GAA):c.693-9G>C
|
|
|
|
NM_000152.5(GAA):c.69C>A (p.Thr23=)
|
rs746351336
|
|
|
NM_000152.5(GAA):c.708G>A (p.Val236=)
|
rs1308198041
|
|
|
NM_000152.5(GAA):c.708G>T (p.Val236=)
|
rs1308198041
|
|
|
NM_000152.5(GAA):c.711G>C (p.Ala237=)
|
|
|
|
NM_000152.5(GAA):c.714C>A (p.Pro238=)
|
|
|
|
NM_000152.5(GAA):c.717G>T (p.Leu239=)
|
|
|
|
NM_000152.5(GAA):c.723T>C (p.Phe241=)
|
|
|
|
NM_000152.5(GAA):c.726G>C (p.Ala242=)
|
rs148578399
|
|
|
NM_000152.5(GAA):c.729C>T (p.Asp243=)
|
|
|
|
NM_000152.5(GAA):c.735C>T (p.Phe245=)
|
rs1264222457
|
|
|
NM_000152.5(GAA):c.741G>A (p.Gln247=)
|
|
|
|
NM_000152.5(GAA):c.742C>T (p.Leu248=)
|
|
|
|
NM_000152.5(GAA):c.747C>G (p.Ser249=)
|
|
|
|
NM_000152.5(GAA):c.747C>T (p.Ser249=)
|
rs1555599614
|
|
|
NM_000152.5(GAA):c.750C>T (p.Thr250=)
|
rs2143846283
|
|
|
NM_000152.5(GAA):c.753G>A (p.Ser251=)
|
rs761363283
|
|
|
NM_000152.5(GAA):c.753G>T (p.Ser251=)
|
rs761363283
|
|
|
NM_000152.5(GAA):c.754C>T (p.Leu252=)
|
rs1598575013
|
|
|
NM_000152.5(GAA):c.756G>A (p.Leu252=)
|
|
|
|
NM_000152.5(GAA):c.759C>T (p.Pro253=)
|
rs1352216789
|
|
|
NM_000152.5(GAA):c.75A>C (p.Ala25=)
|
rs1366159150
|
|
|
NM_000152.5(GAA):c.75A>G (p.Ala25=)
|
rs1366159150
|
|
|
NM_000152.5(GAA):c.75A>T (p.Ala25=)
|
|
|
|
NM_000152.5(GAA):c.765G>A (p.Gln255=)
|
rs1450999199
|
|
|
NM_000152.5(GAA):c.774A>C (p.Thr258=)
|
rs753112231
|
|
|
NM_000152.5(GAA):c.774A>G (p.Thr258=)
|
rs753112231
|
|
|
NM_000152.5(GAA):c.777C>G (p.Gly259=)
|
|
|
|
NM_000152.5(GAA):c.777C>T (p.Gly259=)
|
|
|
|
NM_000152.5(GAA):c.783C>A (p.Ala261=)
|
rs757356178
|
|
|
NM_000152.5(GAA):c.786G>A (p.Glu262=)
|
|
|
|
NM_000152.5(GAA):c.789C>T (p.His263=)
|
rs1336545018
|
|
|
NM_000152.5(GAA):c.78C>T (p.Leu26=)
|
rs2143824668
|
|
|
NM_000152.5(GAA):c.792C>G (p.Leu264=)
|
rs2143846838
|
|
|
NM_000152.5(GAA):c.792C>T (p.Leu264=)
|
|
|
|
NM_000152.5(GAA):c.79C>T (p.Leu27=)
|
rs538605208
|
|
|
NM_000152.5(GAA):c.807C>G (p.Leu269=)
|
|
|
|
NM_000152.5(GAA):c.816C>T (p.Ser272=)
|
rs1405999158
|
|
|
NM_000152.5(GAA):c.822C>T (p.Thr274=)
|
|
|
|
NM_000152.5(GAA):c.841C>A (p.Arg281=)
|
|
|
|
NM_000152.5(GAA):c.846C>T (p.Asp282=)
|
rs1008936778
|
|
|
NM_000152.5(GAA):c.849T>C (p.Leu283=)
|
rs2143847519
|
|
|
NM_000152.5(GAA):c.84G>A (p.Gly28=)
|
rs769733901
|
|
|
NM_000152.5(GAA):c.84G>C (p.Gly28=)
|
|
|
|
NM_000152.5(GAA):c.858+10C>A
|
rs758283022
|
|
|
NM_000152.5(GAA):c.858+10C>T
|
rs758283022
|
|
|
NM_000152.5(GAA):c.858+11G>A
|
rs1464849313
|
|
|
NM_000152.5(GAA):c.858+12G>C
|
|
|
|
NM_000152.5(GAA):c.858+19G>T
|
|
|
|
NM_000152.5(GAA):c.858+20G>T
|
|
|
|
NM_000152.5(GAA):c.858+5_858+11dup
|
rs2039124972
|
|
|
NM_000152.5(GAA):c.858+6GCGGCGG[3]
|
rs1555599723
|
|
|
NM_000152.5(GAA):c.858+7_858+8insACCGGGC
|
rs3071247
|
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCAGGC
|
rs3071247
|
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCAGCGGGC
|
|
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGC
|
rs3071247
|
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGCAGCGGGC
|
rs3071247
|
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGCGGCGGGC
|
rs3071247
|
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGT
|
|
|
|
NM_000152.5(GAA):c.858+7_858+8insAGTGGGC
|
rs3071247
|
|
|
NM_000152.5(GAA):c.858+9G>A
|
|
|
|
NM_000152.5(GAA):c.859-14C>G
|
|
|
|
NM_000152.5(GAA):c.859-14C>T
|
|
|
|
NM_000152.5(GAA):c.859-16C>A
|
|
|
|
NM_000152.5(GAA):c.859-18G>C
|
|
|
|
NM_000152.5(GAA):c.859-20C>T
|
|
|
|
NM_000152.5(GAA):c.859-4C>G
|
|
|
|
NM_000152.5(GAA):c.859-4C>T
|
rs749017942
|
|
|
NM_000152.5(GAA):c.859-5C>T
|
rs2143848848
|
|
|
NM_000152.5(GAA):c.859-7G>A
|
|
|
|
NM_000152.5(GAA):c.859-9A>G
|
rs888669731
|
|
|
NM_000152.5(GAA):c.861C>G (p.Pro287=)
|
|
|
|
NM_000152.5(GAA):c.867G>T (p.Ala289=)
|
rs534515557
|
|
|
NM_000152.5(GAA):c.870C>T (p.Asn290=)
|
|
|
|
NM_000152.5(GAA):c.873C>T (p.Leu291=)
|
rs1598575713
|
|
|
NM_000152.5(GAA):c.879G>A (p.Gly293=)
|
rs2143849260
|
|
|
NM_000152.5(GAA):c.87C>T (p.His29=)
|
|
|
|
NM_000152.5(GAA):c.894C>T (p.Tyr298=)
|
|
|
|
NM_000152.5(GAA):c.897G>C (p.Leu299=)
|
|
|
|
NM_000152.5(GAA):c.900G>C (p.Ala300=)
|
|
|
|
NM_000152.5(GAA):c.900G>T (p.Ala300=)
|
rs759425304
|
|
|
NM_000152.5(GAA):c.915G>T (p.Gly305=)
|
|
|
|
NM_000152.5(GAA):c.91C>T (p.Leu31=)
|
rs1295278849
|
|
|
NM_000152.5(GAA):c.921A>C (p.Ala307=)
|
rs1800303
|
|
|
NM_000152.5(GAA):c.927G>T (p.Gly309=)
|
rs886043779
|
|
|
NM_000152.5(GAA):c.930G>A (p.Val310=)
|
rs2143849884
|
|
|
NM_000152.5(GAA):c.934C>T (p.Leu312=)
|
|
|
|
NM_000152.5(GAA):c.936G>A (p.Leu312=)
|
rs1456154347
|
|
|
NM_000152.5(GAA):c.942C>T (p.Asn314=)
|
rs2143850004
|
|
|
NM_000152.5(GAA):c.955+10C>A
|
rs2143850207
|
|
|
NM_000152.5(GAA):c.955+11C>G
|
|
|
|
NM_000152.5(GAA):c.955+11C>T
|
|
|
|
NM_000152.5(GAA):c.955+12_955+18del
|
|
|
|
NM_000152.5(GAA):c.955+13C>T
|
|
|
|
NM_000152.5(GAA):c.955+14C>T
|
rs756921041
|
|
|
NM_000152.5(GAA):c.955+17C>T
|
rs2143850296
|
|
|
NM_000152.5(GAA):c.955+18C>T
|
|
|
|
NM_000152.5(GAA):c.955+19A>G
|
|
|
|
NM_000152.5(GAA):c.955+20G>C
|
|
|
|
NM_000152.5(GAA):c.955+43G>C
|
|
|
|
NM_000152.5(GAA):c.955+9C>T
|
|
|
|
NM_000152.5(GAA):c.956-11T>C
|
rs2143852431
|
|
|
NM_000152.5(GAA):c.956-13G>T
|
|
|
|
NM_000152.5(GAA):c.956-17A>T
|
rs2039141211
|
|
|
NM_000152.5(GAA):c.956-4C>T
|
rs2143852512
|
|
|
NM_000152.5(GAA):c.956-7C>G
|
|
|
|
NM_000152.5(GAA):c.956-8C>T
|
rs369149976
|
|
|
NM_000152.5(GAA):c.966G>A (p.Leu322=)
|
rs1197362128
|
|
|
NM_000152.5(GAA):c.96C>G (p.Leu32=)
|
rs1598569164
|
|
|
NM_000152.5(GAA):c.972G>C (p.Pro324=)
|
rs763445243
|
|
|
NM_000152.5(GAA):c.996G>T (p.Ser332=)
|
rs779266179
|
|
|
NM_000152.5(GAA):c.999A>G (p.Thr333=)
|
rs1598576668
|
|
|
NM_000182.5(HADHA):c.1011G>A (p.Lys337=)
|
|
|
|
NM_000182.5(HADHA):c.1014C>G (p.Ala338=)
|
|
|
|
NM_000182.5(HADHA):c.1015T>C (p.Leu339=)
|
rs2147766676
|
|
|
NM_000182.5(HADHA):c.1023A>G (p.Gly341=)
|
|
|
|
NM_000182.5(HADHA):c.1032T>C (p.His344=)
|
|
|
|
NM_000182.5(HADHA):c.1041C>A (p.Val347=)
|
|
|
|
NM_000182.5(HADHA):c.1042C>T (p.Leu348=)
|
|
|
|
NM_000182.5(HADHA):c.1044G>A (p.Leu348=)
|
rs1574612640
|
|
|
NM_000182.5(HADHA):c.1050G>A (p.Lys350=)
|
rs2147766641
|
|
|
NM_000182.5(HADHA):c.1053G>A (p.Lys351=)
|
|
|
|
NM_000182.5(HADHA):c.105G>A (p.Leu35=)
|
rs772322566
|
|
|
NM_000182.5(HADHA):c.1065A>C (p.Gly355=)
|
rs1574612617
|
|
|
NM_000182.5(HADHA):c.1077G>A (p.Lys359=)
|
rs2147766596
|
|
|
NM_000182.5(HADHA):c.1085+10del
|
|
|
|
NM_000182.5(HADHA):c.1085+12T>G
|
|
|
|
NM_000182.5(HADHA):c.1085+15A>G
|
|
|
|
NM_000182.5(HADHA):c.1085+16C>T
|
|
|
|
NM_000182.5(HADHA):c.1085+19A>G
|
|
|
|
NM_000182.5(HADHA):c.1086-8C>T
|
|
|
|
NM_000182.5(HADHA):c.1086-9G>T
|
|
|
|
NM_000182.5(HADHA):c.110-10T>C
|
rs372046774
|
|
|
NM_000182.5(HADHA):c.110-11T>C
|
|
|
|
NM_000182.5(HADHA):c.110-12T>A
|
|
|
|
NM_000182.5(HADHA):c.110-12T>C
|
|
|
|
NM_000182.5(HADHA):c.110-13C>A
|
rs1314506688
|
|
|
NM_000182.5(HADHA):c.110-13_110-10del
|
|
|
|
NM_000182.5(HADHA):c.110-14T>A
|
|
|
|
NM_000182.5(HADHA):c.110-14T>C
|
|
|
|
NM_000182.5(HADHA):c.110-15T>G
|
|
|
|
NM_000182.5(HADHA):c.110-17C>T
|
|
|
|
NM_000182.5(HADHA):c.1110G>C (p.Gly370=)
|
|
|
|
NM_000182.5(HADHA):c.1113G>T (p.Leu371=)
|
|
|
|
NM_000182.5(HADHA):c.1119A>G (p.Gly373=)
|
rs2147762370
|
|
|
NM_000182.5(HADHA):c.1125C>T (p.Gly375=)
|
|
|
|
NM_000182.5(HADHA):c.1131C>G (p.Ala377=)
|
|
|
|
NM_000182.5(HADHA):c.1137C>A (p.Val379=)
|
|
|
|
NM_000182.5(HADHA):c.1173T>C (p.Asp391=)
|
|
|
|
NM_000182.5(HADHA):c.1188G>A (p.Ala396=)
|
rs781338540
|
|
|
NM_000182.5(HADHA):c.1188G>T (p.Ala396=)
|
|
|
|
NM_000182.5(HADHA):c.1194C>T (p.Asp398=)
|
|
|
|
NM_000182.5(HADHA):c.1220+10C>A
|
|
|
|
NM_000182.5(HADHA):c.1220+10CT[3]
|
|
|
|
NM_000182.5(HADHA):c.1220+12C>G
|
|
|
|
NM_000182.5(HADHA):c.1220+12C>T
|
|
|
|
NM_000182.5(HADHA):c.1220+16C>G
|
|
|
|
NM_000182.5(HADHA):c.1220+16C>T
|
|
|
|
NM_000182.5(HADHA):c.1220+17T>C
|
|
|
|
NM_000182.5(HADHA):c.1220+9G>A
|
|
|
|
NM_000182.5(HADHA):c.1220+9G>C
|
rs539814267
|
|
|
NM_000182.5(HADHA):c.1221-11G>T
|
|
|
|
NM_000182.5(HADHA):c.1222T>C (p.Leu408=)
|
|
|
|
NM_000182.5(HADHA):c.1236G>T (p.Val412=)
|
|
|
|
NM_000182.5(HADHA):c.1242G>A (p.Lys414=)
|
rs781509327
|
|
|
NM_000182.5(HADHA):c.1248T>G (p.Ala416=)
|
rs769173885
|
|
|
NM_000182.5(HADHA):c.1266G>A (p.Arg422=)
|
|
|
|
NM_000182.5(HADHA):c.1290T>C (p.Thr430=)
|
|
|
|
NM_000182.5(HADHA):c.129T>C (p.Tyr43=)
|
rs2147785511
|
|
|
NM_000182.5(HADHA):c.1350G>A (p.Glu450=)
|
|
|
|
NM_000182.5(HADHA):c.1365G>A (p.Lys455=)
|
rs2147759599
|
|
|
NM_000182.5(HADHA):c.1368C>T (p.His456=)
|
|
|
|
NM_000182.5(HADHA):c.1392+11G>A
|
|
|
|
NM_000182.5(HADHA):c.1392+14T>C
|
|
|
|
NM_000182.5(HADHA):c.1392+14T>G
|
|
|
|
NM_000182.5(HADHA):c.1392+15G>A
|
|
|
|
NM_000182.5(HADHA):c.1392+18G>A
|
|
|
|
NM_000182.5(HADHA):c.1392+18G>T
|
|
|
|
NM_000182.5(HADHA):c.1392+19T>C
|
|
|
|
NM_000182.5(HADHA):c.1393-13T>C
|
|
|
|
NM_000182.5(HADHA):c.1393-16T>C
|
|
|
|
NM_000182.5(HADHA):c.1393-17dup
|
|
|
|
NM_000182.5(HADHA):c.1393-20T>A
|
|
|
|
NM_000182.5(HADHA):c.1413C>T (p.Ile471=)
|
|
|
|
NM_000182.5(HADHA):c.1419C>G (p.Ala473=)
|
|
|
|
NM_000182.5(HADHA):c.141G>A (p.Gly47=)
|
rs1670826504
|
|
|
NM_000182.5(HADHA):c.1422T>C (p.Ser474=)
|
rs2147756121
|
|
|
NM_000182.5(HADHA):c.1431T>G (p.Ser477=)
|
rs758130768
|
|
|
NM_000182.5(HADHA):c.1437C>T (p.Leu479=)
|
|
|
|
NM_000182.5(HADHA):c.1440A>C (p.Pro480=)
|
|
|
|
NM_000182.5(HADHA):c.1452C>A (p.Ile484=)
|
rs758386186
|
|
|
NM_000182.5(HADHA):c.1452C>T (p.Ile484=)
|
rs758386186
|
|
|
NM_000182.5(HADHA):c.1461C>A (p.Val487=)
|
|
|
|
NM_000182.5(HADHA):c.1476G>A (p.Glu492=)
|
|
|
|
NM_000182.5(HADHA):c.1479+12A>G
|
|
|
|
NM_000182.5(HADHA):c.1479+14A>G
|
|
|
|
NM_000182.5(HADHA):c.1479+14A>T
|
|
|
|
NM_000182.5(HADHA):c.1479+17G>A
|
|
|
|
NM_000182.5(HADHA):c.1479+7T>A
|
rs1574605330
|
|
|
NM_000182.5(HADHA):c.1479+8C>A
|
rs764385972
|
|
|
NM_000182.5(HADHA):c.1479+8C>T
|
rs764385972
|
|
|
NM_000182.5(HADHA):c.1479+9_1479+25del
|
rs1325169012
|
|
|
NM_000182.5(HADHA):c.147G>A (p.Val49=)
|
rs2147785494
|
|
|
NM_000182.5(HADHA):c.1480-10C>T
|
|
|
|
NM_000182.5(HADHA):c.1480-12T>C
|
|
|
|
NM_000182.5(HADHA):c.1480-15G>T
|
|
|
|
NM_000182.5(HADHA):c.1480-20C>T
|
|
|
|
NM_000182.5(HADHA):c.1480-8C>T
|
rs1574603649
|
|
|
NM_000182.5(HADHA):c.1482G>T (p.Val494=)
|
|
|
|
NM_000182.5(HADHA):c.1497C>T (p.Tyr499=)
|
rs373104835
|
|
|
NM_000182.5(HADHA):c.1503T>G (p.Ser501=)
|
|
|
|
NM_000182.5(HADHA):c.1506C>T (p.Pro502=)
|
rs1477172372
|
|
|
NM_000182.5(HADHA):c.1539G>T (p.Thr513=)
|
rs755287314
|
|
|
NM_000182.5(HADHA):c.1542C>G (p.Thr514=)
|
rs374189575
|
|
|
NM_000182.5(HADHA):c.1545G>A (p.Glu515=)
|
|
|
|
NM_000182.5(HADHA):c.1554C>G (p.Ser518=)
|
rs765162716
|
|
|
NM_000182.5(HADHA):c.1563C>T (p.Thr521=)
|
rs1574603522
|
|
|
NM_000182.5(HADHA):c.1566T>C (p.Ser522=)
|
rs2147753617
|
|
|
NM_000182.5(HADHA):c.157C>A (p.Arg53=)
|
rs147103714
|
|
|
NM_000182.5(HADHA):c.1581A>C (p.Ala527=)
|
rs2147753600
|
|
|
NM_000182.5(HADHA):c.1584T>C (p.Val528=)
|
rs2147753595
|
|
|
NM_000182.5(HADHA):c.1590C>T (p.Leu530=)
|
rs1250337326
|
|
|
NM_000182.5(HADHA):c.1614G>A (p.Val538=)
|
|
|
|
NM_000182.5(HADHA):c.1614G>T (p.Val538=)
|
|
|
|
NM_000182.5(HADHA):c.1620+11G>A
|
|
|
|
NM_000182.5(HADHA):c.1620+13A>G
|
|
|
|
NM_000182.5(HADHA):c.1620+19G>A
|
|
|
|
NM_000182.5(HADHA):c.1620+19G>C
|
|
|
|
NM_000182.5(HADHA):c.1620+20_1620+21del
|
rs1064794598
|
|
|
NM_000182.5(HADHA):c.1620+7G>A
|
rs2147753540
|
|
|
NM_000182.5(HADHA):c.1620+9C>T
|
rs772786562
|
|
|
NM_000182.5(HADHA):c.1621-18T>C
|
rs2147753134
|
|
|
NM_000182.5(HADHA):c.1621-20C>T
|
|
|
|
NM_000182.5(HADHA):c.1621-8del
|
rs1558315187
|
|
|
NM_000182.5(HADHA):c.1623T>C (p.Asp541=)
|
|
|
|
NM_000182.5(HADHA):c.162T>C (p.Ile54=)
|
rs1558331903
|
|
|
NM_000182.5(HADHA):c.1638T>C (p.Tyr546=)
|
rs779881707
|
|
|
NM_000182.5(HADHA):c.1656G>T (p.Ala552=)
|
rs541069396
|
|
|
NM_000182.5(HADHA):c.165C>T (p.Asn55=)
|
|
|
|
NM_000182.5(HADHA):c.1679G>A (p.Arg560Gln)
|
rs779324271
|
|
|
NM_000182.5(HADHA):c.1683C>T (p.Ile561=)
|
|
|
|
NM_000182.5(HADHA):c.1686C>G (p.Leu562=)
|
rs757813588
|
|
|
NM_000182.5(HADHA):c.1686C>T (p.Leu562=)
|
rs757813588
|
|
|
NM_000182.5(HADHA):c.1689+16C>T
|
|
|
|
NM_000182.5(HADHA):c.1689+18G>C
|
|
|
|
NM_000182.5(HADHA):c.1689+19_1689+20del
|
|
|
|
NM_000182.5(HADHA):c.1689+8T>C
|
rs576886917
|
|
|
NM_000182.5(HADHA):c.1690-16A>C
|
|
|
|
NM_000182.5(HADHA):c.1690-16A>G
|
|
|
|
NM_000182.5(HADHA):c.1690-17C>A
|
|
|
|
NM_000182.5(HADHA):c.1690-17C>T
|
|
|
|
NM_000182.5(HADHA):c.1690-19T>C
|
|
|
|
NM_000182.5(HADHA):c.1690-20C>G
|
|
|
|
NM_000182.5(HADHA):c.16G>A (p.Ala6Thr)
|
|
|
|
NM_000182.5(HADHA):c.1707G>A (p.Lys569=)
|
rs2147752219
|
|
|
NM_000182.5(HADHA):c.1731C>T (p.Ser577=)
|
rs1308806038
|
|
|
NM_000182.5(HADHA):c.1734T>C (p.Phe578=)
|
rs1343063543
|
|
|
NM_000182.5(HADHA):c.1743T>C (p.Pro581=)
|
rs1669579845
|
|
|
NM_000182.5(HADHA):c.1758A>G (p.Thr586=)
|
rs974621601
|
|
|
NM_000182.5(HADHA):c.1759C>T (p.Leu587=)
|
rs2147752154
|
|
|
NM_000182.5(HADHA):c.1761G>A (p.Leu587=)
|
|
|
|
NM_000182.5(HADHA):c.1770A>G (p.Glu590=)
|
rs2147752135
|
|
|
NM_000182.5(HADHA):c.1776T>C (p.Gly592=)
|
|
|
|
NM_000182.5(HADHA):c.177A>C (p.Ser59=)
|
rs1574627624
|
|
|
NM_000182.5(HADHA):c.1785A>T (p.Val595=)
|
rs2147752107
|
|
|
NM_000182.5(HADHA):c.17C>T (p.Ala6Val)
|
|
|
|
NM_000182.5(HADHA):c.180+14T>A
|
|
|
|
NM_000182.5(HADHA):c.180+20G>A
|
|
|
|
NM_000182.5(HADHA):c.180+7C>G
|
|
|
|
NM_000182.5(HADHA):c.1807C>T (p.Leu603=)
|
|
|
|
NM_000182.5(HADHA):c.181-15A>G
|
|
|
|
NM_000182.5(HADHA):c.181-17A>G
|
|
|
|
NM_000182.5(HADHA):c.181-8T>A
|
rs1670779458
|
|
|
NM_000182.5(HADHA):c.1828C>A (p.Arg610=)
|
rs267599303
|
|
|
NM_000182.5(HADHA):c.1830G>A (p.Arg610=)
|
|
|
|
NM_000182.5(HADHA):c.1833T>C (p.Phe611=)
|
|
|
|
NM_000182.5(HADHA):c.1854G>A (p.Leu618=)
|
|
|
|
NM_000182.5(HADHA):c.1857G>C (p.Leu619=)
|
|
|
|
NM_000182.5(HADHA):c.1863G>A (p.Gln621=)
|
rs1396271017
|
|
|
NM_000182.5(HADHA):c.1869G>A (p.Val623=)
|
rs2147751984
|
|
|
NM_000182.5(HADHA):c.1878C>T (p.Gly626=)
|
|
|
|
NM_000182.5(HADHA):c.1885+12C>G
|
|
|
|
NM_000182.5(HADHA):c.1885+14A>G
|
|
|
|
NM_000182.5(HADHA):c.1886-13T>G
|
|
|
|
NM_000182.5(HADHA):c.1886-14C>T
|
|
|
|
NM_000182.5(HADHA):c.1886-44_1886-18del
|
rs772436809
|
|
|
NM_000182.5(HADHA):c.1886-44_1886-18dup
|
|
|
|
NM_000182.5(HADHA):c.1886-7G>A
|
rs2147750524
|
|
|
NM_000182.5(HADHA):c.1890T>C (p.Arg630=)
|
rs1331075824
|
|
|
NM_000182.5(HADHA):c.189A>C (p.Thr63=)
|
rs748187062
|
|
|
NM_000182.5(HADHA):c.189A>T (p.Thr63=)
|
rs748187062
|
|
|
NM_000182.5(HADHA):c.1926T>C (p.Gly642=)
|
|
|
|
NM_000182.5(HADHA):c.192G>A (p.Leu64=)
|
rs2147784458
|
|
|
NM_000182.5(HADHA):c.1932G>A (p.Lys644=)
|
rs765574028
|
|
|
NM_000182.5(HADHA):c.1962T>C (p.Ser654=)
|
rs1669532360
|
|
|
NM_000182.5(HADHA):c.1971G>A (p.Ala657=)
|
rs570854524
|
|
|
NM_000182.5(HADHA):c.1983G>A (p.Leu661=)
|
rs2147750371
|
|
|
NM_000182.5(HADHA):c.2000+9G>T
|
rs200802583
|
|
|
NM_000182.5(HADHA):c.2001-10C>G
|
|
|
|
NM_000182.5(HADHA):c.2001-10C>T
|
rs1463681982
|
|
|
NM_000182.5(HADHA):c.2001-13T>C
|
|
|
|
NM_000182.5(HADHA):c.2001-14C>T
|
|
|
|
NM_000182.5(HADHA):c.2001-16C>G
|
|
|
|
NM_000182.5(HADHA):c.2001-18A>G
|
|
|
|
NM_000182.5(HADHA):c.2001-18_2001-16dup
|
|
|
|
NM_000182.5(HADHA):c.2001-4G>A
|
|
|
|
NM_000182.5(HADHA):c.2004A>T (p.Ser668=)
|
|
|
|
NM_000182.5(HADHA):c.2019C>T (p.Ile673=)
|
|
|
|
NM_000182.5(HADHA):c.202C>T (p.Leu68=)
|
|
|
|
NM_000182.5(HADHA):c.204A>G (p.Leu68=)
|
|
|
|
NM_000182.5(HADHA):c.2073G>A (p.Glu691=)
|
rs2147749350
|
|
|
NM_000182.5(HADHA):c.2076G>T (p.Gly692=)
|
|
|
|
NM_000182.5(HADHA):c.2085C>T (p.Ala695=)
|
|
|
|
NM_000182.5(HADHA):c.2091T>G (p.Pro697=)
|
rs2147749333
|
|
|
NM_000182.5(HADHA):c.2094A>G (p.Ala698=)
|
rs757938383
|
|
|
NM_000182.5(HADHA):c.2100A>G (p.Gly700=)
|
|
|
|
NM_000182.5(HADHA):c.2109A>G (p.Gly703=)
|
|
|
|
NM_000182.5(HADHA):c.2127C>G (p.Gly709=)
|
|
|
|
NM_000182.5(HADHA):c.213G>A (p.Glu71=)
|
rs532314552
|
|
|
NM_000182.5(HADHA):c.2146+12A>G
|
|
|
|
NM_000182.5(HADHA):c.2146+17G>A
|
|
|
|
NM_000182.5(HADHA):c.2146+19G>A
|
|
|
|
NM_000182.5(HADHA):c.2146+20A>C
|
|
|
|
NM_000182.5(HADHA):c.2146+9C>A
|
|
|
|
NM_000182.5(HADHA):c.2146+9C>G
|
|
|
|
NM_000182.5(HADHA):c.2147-10C>A
|
|
|
|
NM_000182.5(HADHA):c.2147-12_2147-11del
|
|
|
|
NM_000182.5(HADHA):c.2147-5T>C
|
rs2147748983
|
|
|
NM_000182.5(HADHA):c.2147-7_2147-6insGA
|
rs767103938
|
|
|
NM_000182.5(HADHA):c.2147-8C>T
|
|
|
|
NM_000182.5(HADHA):c.216C>T (p.Phe72=)
|
rs1670777856
|
|
|
NM_000182.5(HADHA):c.2172T>C (p.Tyr724=)
|
|
|
|
NM_000182.5(HADHA):c.2178C>T (p.Ala726=)
|
|
|
|
NM_000182.5(HADHA):c.217T>C (p.Ser73Pro)
|
|
|
|
NM_000182.5(HADHA):c.2193C>T (p.Asp731=)
|
|
|
|
NM_000182.5(HADHA):c.2194C>A (p.Arg732=)
|
|
|
|
NM_000182.5(HADHA):c.2196G>A (p.Arg732=)
|
|
|
|
NM_000182.5(HADHA):c.2199C>T (p.Leu733=)
|
|
|
|
NM_000182.5(HADHA):c.2202G>A (p.Lys734=)
|
rs2147748806
|
|
|
NM_000182.5(HADHA):c.2220T>C (p.Tyr740=)
|
rs142120825
|
|
|
NM_000182.5(HADHA):c.2235C>T (p.Thr745=)
|
|
|
|
NM_000182.5(HADHA):c.2241C>T (p.Cys747=)
|
|
|
|
NM_000182.5(HADHA):c.2259T>C (p.His753=)
|
rs1669489360
|
|
|
NM_000182.5(HADHA):c.2262T>C (p.Ala754=)
|
rs1423314926
|
|
|
NM_000182.5(HADHA):c.2265C>T (p.Asn755=)
|
rs2147748705
|
|
|
NM_000182.5(HADHA):c.2268C>T (p.Ser756=)
|
|
|
|
NM_000182.5(HADHA):c.2283C>T (p.Phe761=)
|
|
|
|
NM_000182.5(HADHA):c.2286C>T (p.Tyr762=)
|
rs2147748660
|
|
|
NM_000182.5(HADHA):c.2289G>A (p.Gln763=)
|
|
|
|
NM_000182.5(HADHA):c.2291G>A (p.Ter764=)
|
|
|
|
NM_000182.5(HADHA):c.243T>C (p.Ala81=)
|
|
|
|
NM_000182.5(HADHA):c.24C>A (p.Gly8=)
|
rs942208244
|
|
|
NM_000182.5(HADHA):c.258A>G (p.Arg86=)
|
|
|
|
NM_000182.5(HADHA):c.264C>G (p.Ala88=)
|
|
|
|
NM_000182.5(HADHA):c.276A>G (p.Ser92=)
|
|
|
|
NM_000182.5(HADHA):c.279A>G (p.Ser93=)
|
|
|
|
NM_000182.5(HADHA):c.291C>T (p.Cys97=)
|
|
|
|
NM_000182.5(HADHA):c.297T>C (p.Ile99=)
|
|
|
|
NM_000182.5(HADHA):c.300A>G (p.Ala100=)
|
rs1335136331
|
|
|
NM_000182.5(HADHA):c.303T>G (p.Gly101=)
|
rs1670773890
|
|
|
NM_000182.5(HADHA):c.306T>C (p.Ala102=)
|
|
|
|
NM_000182.5(HADHA):c.30C>A (p.Leu10=)
|
|
|
|
NM_000182.5(HADHA):c.30C>G (p.Leu10=)
|
rs1221423725
|
|
|
NM_000182.5(HADHA):c.314+11G>A
|
|
|
|
NM_000182.5(HADHA):c.314+12G>T
|
|
|
|
NM_000182.5(HADHA):c.314+14A>C
|
|
|
|
NM_000182.5(HADHA):c.314+15A>G
|
|
|
|
NM_000182.5(HADHA):c.314+17T>C
|
|
|
|
NM_000182.5(HADHA):c.314+18dup
|
rs2147784338
|
|
|
NM_000182.5(HADHA):c.314+19G>A
|
|
|
|
NM_000182.5(HADHA):c.314+8T>A
|
|
|
|
NM_000182.5(HADHA):c.315-16T>A
|
|
|
|
NM_000182.5(HADHA):c.327T>C (p.Ala109=)
|
|
|
|
NM_000182.5(HADHA):c.336C>A (p.Thr112=)
|
|
|
|
NM_000182.5(HADHA):c.33C>T (p.Ser11=)
|
rs1574631841
|
|
|
NM_000182.5(HADHA):c.345A>G (p.Glu115=)
|
|
|
|
NM_000182.5(HADHA):c.348A>G (p.Val116=)
|
rs2147782544
|
|
|
NM_000182.5(HADHA):c.36C>A (p.Arg12=)
|
rs2147789735
|
|
|
NM_000182.5(HADHA):c.384G>A (p.Glu128=)
|
|
|
|
NM_000182.5(HADHA):c.402A>G (p.Thr134=)
|
|
|
|
NM_000182.5(HADHA):c.411T>C (p.Ile137=)
|
rs1574625100
|
|
|
NM_000182.5(HADHA):c.432C>A (p.Ser144=)
|
rs2147782494
|
|
|
NM_000182.5(HADHA):c.432C>G (p.Ser144=)
|
rs2147782494
|
|
|
NM_000182.5(HADHA):c.453+12C>G
|
|
|
|
NM_000182.5(HADHA):c.453+14A>G
|
|
|
|
NM_000182.5(HADHA):c.453+14A>T
|
|
|
|
NM_000182.5(HADHA):c.453+20_453+22del
|
|
|
|
NM_000182.5(HADHA):c.453+9A>G
|
|
|
|
NM_000182.5(HADHA):c.454-12A>G
|
|
|
|
NM_000182.5(HADHA):c.454-12_454-11del
|
|
|
|
NM_000182.5(HADHA):c.454-13C>A
|
|
|
|
NM_000182.5(HADHA):c.454-17C>G
|
|
|
|
NM_000182.5(HADHA):c.454-5C>T
|
|
|
|
NM_000182.5(HADHA):c.454-8G>T
|
rs1175400236
|
|
|
NM_000182.5(HADHA):c.45C>T (p.Ala15=)
|
|
|
|
NM_000182.5(HADHA):c.501A>G (p.Thr167=)
|
|
|
|
NM_000182.5(HADHA):c.507A>G (p.Leu169=)
|
|
|
|
NM_000182.5(HADHA):c.513C>T (p.Thr171=)
|
|
|
|
NM_000182.5(HADHA):c.540A>G (p.Pro180=)
|
|
|
|
NM_000182.5(HADHA):c.546A>G (p.Ala182=)
|
|
|
|
NM_000182.5(HADHA):c.558A>G (p.Gln186=)
|
|
|
|
NM_000182.5(HADHA):c.564G>A (p.Leu188=)
|
rs2147781176
|
|
|
NM_000182.5(HADHA):c.567C>G (p.Pro189=)
|
|
|
|
NM_000182.5(HADHA):c.573+15C>T
|
|
|
|
NM_000182.5(HADHA):c.573+7C>G
|
|
|
|
NM_000182.5(HADHA):c.573+8T>C
|
rs2147781158
|
|
|
NM_000182.5(HADHA):c.574-13G>A
|
|
|
|
NM_000182.5(HADHA):c.574-13G>T
|
|
|
|
NM_000182.5(HADHA):c.574-17C>T
|
|
|
|
NM_000182.5(HADHA):c.574-4T>G
|
|
|
|
NM_000182.5(HADHA):c.574-4dup
|
rs763636903
|
|
|
NM_000182.5(HADHA):c.574-5G>A
|
rs1248416510
|
|
|
NM_000182.5(HADHA):c.574-6T>C
|
|
|
|
NM_000182.5(HADHA):c.574-9G>T
|
|
|
|
NM_000182.5(HADHA):c.57C>G (p.Leu19=)
|
|
|
|
NM_000182.5(HADHA):c.592T>C (p.Leu198=)
|
|
|
|
NM_000182.5(HADHA):c.594G>A (p.Leu198=)
|
|
|
|
NM_000182.5(HADHA):c.609T>G (p.Thr203=)
|
rs2147779949
|
|
|
NM_000182.5(HADHA):c.612T>A (p.Gly204=)
|
rs2147779944
|
|
|
NM_000182.5(HADHA):c.621T>C (p.Ile207=)
|
|
|
|
NM_000182.5(HADHA):c.624T>C (p.Arg208=)
|
rs2147779940
|
|
|
NM_000182.5(HADHA):c.627A>G (p.Ala209=)
|
|
|
|
NM_000182.5(HADHA):c.633G>A (p.Arg211=)
|
rs2147779928
|
|
|
NM_000182.5(HADHA):c.63C>T (p.Ser21=)
|
rs2147789695
|
|
|
NM_000182.5(HADHA):c.651G>T (p.Leu217=)
|
|
|
|
NM_000182.5(HADHA):c.654T>C (p.Val218=)
|
|
|
|
NM_000182.5(HADHA):c.661C>T (p.Leu221=)
|
rs1574623021
|
|
|
NM_000182.5(HADHA):c.669A>G (p.Glu223=)
|
rs748977241
|
|
|
NM_000182.5(HADHA):c.67+13C>G
|
|
|
|
NM_000182.5(HADHA):c.67+14G>A
|
|
|
|
NM_000182.5(HADHA):c.67+16G>C
|
|
|
|
NM_000182.5(HADHA):c.67+18G>A
|
|
|
|
NM_000182.5(HADHA):c.67+18G>T
|
|
|
|
NM_000182.5(HADHA):c.67+9T>C
|
|
|
|
NM_000182.5(HADHA):c.677-16G>T
|
|
|
|
NM_000182.5(HADHA):c.677-17T>A
|
|
|
|
NM_000182.5(HADHA):c.677-20T>C
|
|
|
|
NM_000182.5(HADHA):c.677-6T>C
|
rs2147770003
|
|
|
NM_000182.5(HADHA):c.677-9T>C
|
rs2147770005
|
|
|
NM_000182.5(HADHA):c.678A>C (p.Gly226=)
|
|
|
|
NM_000182.5(HADHA):c.68-12C>G
|
|
|
|
NM_000182.5(HADHA):c.68-12C>T
|
|
|
|
NM_000182.5(HADHA):c.68-14G>A
|
|
|
|
NM_000182.5(HADHA):c.68-16A>C
|
|
|
|
NM_000182.5(HADHA):c.68-18A>T
|
|
|
|
NM_000182.5(HADHA):c.68-4A>G
|
|
|
|
NM_000182.5(HADHA):c.68-7C>T
|
rs1670832440
|
|
|
NM_000182.5(HADHA):c.687A>G (p.Leu229=)
|
rs2147769994
|
|
|
NM_000182.5(HADHA):c.693T>C (p.Pro231=)
|
|
|
|
NM_000182.5(HADHA):c.72T>C (p.Tyr24=)
|
|
|
|
NM_000182.5(HADHA):c.744C>G (p.Ala248=)
|
|
|
|
NM_000182.5(HADHA):c.744C>T (p.Ala248=)
|
|
|
|
NM_000182.5(HADHA):c.750A>G (p.Gly250=)
|
|
|
|
NM_000182.5(HADHA):c.759T>C (p.Asp253=)
|
|
|
|
NM_000182.5(HADHA):c.774A>G (p.Pro258=)
|
rs2147769914
|
|
|
NM_000182.5(HADHA):c.790T>C (p.Leu264=)
|
|
|
|
NM_000182.5(HADHA):c.799+10A>C
|
rs2147769884
|
|
|
NM_000182.5(HADHA):c.799+13G>A
|
|
|
|
NM_000182.5(HADHA):c.799+18dup
|
|
|
|
NM_000182.5(HADHA):c.799+7A>G
|
|
|
|
NM_000182.5(HADHA):c.799+8T>A
|
rs1451443100
|
|
|
NM_000182.5(HADHA):c.800-16del
|
|
|
|
NM_000182.5(HADHA):c.800-20A>G
|
|
|
|
NM_000182.5(HADHA):c.800-9A>G
|
rs2147769623
|
|
|
NM_000182.5(HADHA):c.80G>T (p.Arg27Leu)
|
rs200145855
|
|
|
NM_000182.5(HADHA):c.81C>T (p.Arg27=)
|
|
|
|
NM_000182.5(HADHA):c.846T>A (p.Val282=)
|
rs1574615034
|
|
|
NM_000182.5(HADHA):c.849C>T (p.Tyr283=)
|
|
|
|
NM_000182.5(HADHA):c.870G>A (p.Val290=)
|
rs771022089
|
|
|
NM_000182.5(HADHA):c.879G>A (p.Gln293=)
|
|
|
|
NM_000182.5(HADHA):c.882T>A (p.Thr294=)
|
|
|
|
NM_000182.5(HADHA):c.882T>C (p.Thr294=)
|
rs769959246
|
|
|
NM_000182.5(HADHA):c.891T>A (p.Leu297=)
|
rs748396892
|
|
|
NM_000182.5(HADHA):c.918+15A>G
|
|
|
|
NM_000182.5(HADHA):c.918+16T>G
|
|
|
|
NM_000182.5(HADHA):c.918+20C>T
|
|
|
|
NM_000182.5(HADHA):c.919-10T>C
|
rs2147768564
|
|
|
NM_000182.5(HADHA):c.919-11A>G
|
|
|
|
NM_000182.5(HADHA):c.919-15T>G
|
|
|
|
NM_000182.5(HADHA):c.919-7T>G
|
rs2147768563
|
|
|
NM_000182.5(HADHA):c.930T>C (p.Thr310=)
|
rs1670129457
|
|
|
NM_000182.5(HADHA):c.93G>A (p.Gly31=)
|
rs2147785589
|
|
|
NM_000182.5(HADHA):c.954C>A (p.Ala318=)
|
|
|
|
NM_000182.5(HADHA):c.957T>C (p.Gly319=)
|
|
|
|
NM_000182.5(HADHA):c.975+12del
|
|
|
|
NM_000182.5(HADHA):c.975+17dup
|
|
|
|
NM_000182.5(HADHA):c.975+20A>G
|
|
|
|
NM_000182.5(HADHA):c.976-10T>A
|
|
|
|
NM_000182.5(HADHA):c.976-12T>C
|
|
|
|
NM_000182.5(HADHA):c.976-18T>C
|
|
|
|
NM_000182.5(HADHA):c.976-19A>C
|
rs2147766738
|
|
|
NM_000182.5(HADHA):c.976-20C>T
|
|
|
|
NM_000182.5(HADHA):c.984A>G (p.Gly328=)
|
|
|
|
NM_000182.5(HADHA):c.990T>C (p.Leu330=)
|
rs1433589314
|
|
|
NM_000182.5(HADHA):c.999C>A (p.Thr333=)
|
rs2147766687
|
|
|
NM_000231.3(SGCG):c.111C>T (p.Tyr37=)
|
|
|
|
NM_000231.3(SGCG):c.129A>G (p.Leu43=)
|
rs1555234797
|
|
|
NM_000231.3(SGCG):c.138C>T (p.Ile46=)
|
|
|
|
NM_000231.3(SGCG):c.141C>T (p.Leu47=)
|
rs1877869527
|
|
|
NM_000231.3(SGCG):c.195+15T>G
|
|
|
|
NM_000231.3(SGCG):c.195+19T>C
|
|
|
|
NM_000231.3(SGCG):c.196-10T>C
|
rs759238812
|
|
|
NM_000231.3(SGCG):c.196-10_196-6del
|
|
|
|
NM_000231.3(SGCG):c.196-11T>C
|
rs1879238085
|
|
|
NM_000231.3(SGCG):c.196-19T>C
|
|
|
|
NM_000231.3(SGCG):c.196-9T>C
|
|
|
|
NM_000231.3(SGCG):c.213G>A (p.Leu71=)
|
|
|
|
NM_000231.3(SGCG):c.237C>G (p.Arg79=)
|
|
|
|
NM_000231.3(SGCG):c.237C>T (p.Arg79=)
|
|
|
|
NM_000231.3(SGCG):c.240G>A (p.Leu80=)
|
rs1228186934
|
|
|
NM_000231.3(SGCG):c.259T>C (p.Leu87=)
|
rs1174403532
|
|
|
NM_000231.3(SGCG):c.264C>T (p.Phe88=)
|
rs2137545196
|
|
|
NM_000231.3(SGCG):c.268T>C (p.Leu90=)
|
|
|
|
NM_000231.3(SGCG):c.273T>C (p.Tyr91=)
|
|
|
|
NM_000231.3(SGCG):c.27C>T (p.Ala9=)
|
|
|
|
NM_000231.3(SGCG):c.288C>T (p.His96=)
|
rs957838468
|
|
|
NM_000231.3(SGCG):c.291C>T (p.Ser97=)
|
|
|
|
NM_000231.3(SGCG):c.297+13T>G
|
|
|
|
NM_000231.3(SGCG):c.297+14_297+15del
|
|
|
|
NM_000231.3(SGCG):c.297+16G>A
|
|
|
|
NM_000231.3(SGCG):c.297+17A>G
|
|
|
|
NM_000231.3(SGCG):c.297+18C>G
|
rs1408311582
|
|
|
NM_000231.3(SGCG):c.298-14A>G
|
|
|
|
NM_000231.3(SGCG):c.298-16A>G
|
|
|
|
NM_000231.3(SGCG):c.298-20T>G
|
|
|
|
NM_000231.3(SGCG):c.298-8C>T
|
|
|
|
NM_000231.3(SGCG):c.300C>T (p.Asp100=)
|
rs2137569260
|
|
|
NM_000231.3(SGCG):c.307C>T (p.Leu103=)
|
rs754191351
|
|
|
NM_000231.3(SGCG):c.312T>C (p.Leu104=)
|
|
|
|
NM_000231.3(SGCG):c.321A>C (p.Ser107=)
|
rs777873668
|
|
|
NM_000231.3(SGCG):c.327G>A (p.Gln109=)
|
|
|
|
NM_000231.3(SGCG):c.336T>C (p.Thr112=)
|
|
|
|
NM_000231.3(SGCG):c.360G>A (p.Gly120=)
|
|
|
|
NM_000231.3(SGCG):c.363G>A (p.Glu121=)
|
|
|
|
NM_000231.3(SGCG):c.375G>A (p.Arg125=)
|
|
|
|
NM_000231.3(SGCG):c.385+11C>G
|
|
|
|
NM_000231.3(SGCG):c.385+16T>C
|
|
|
|
NM_000231.3(SGCG):c.385+20G>T
|
|
|
|
NM_000231.3(SGCG):c.385+7C>T
|
|
|
|
NM_000231.3(SGCG):c.386-12T>C
|
rs781429055
|
|
|
NM_000231.3(SGCG):c.386-15G>A
|
|
|
|
NM_000231.3(SGCG):c.386-15G>C
|
|
|
|
NM_000231.3(SGCG):c.386-18A>G
|
|
|
|
NM_000231.3(SGCG):c.386-8T>A
|
rs2137617464
|
|
|
NM_000231.3(SGCG):c.399A>C (p.Val133=)
|
|
|
|
NM_000231.3(SGCG):c.405C>T (p.Val135=)
|
rs771962643
|
|
|
NM_000231.3(SGCG):c.42C>T (p.Cys14=)
|
rs1877862967
|
|
|
NM_000231.3(SGCG):c.432C>G (p.Ser144=)
|
|
|
|
NM_000231.3(SGCG):c.432C>T (p.Ser144=)
|
|
|
|
NM_000231.3(SGCG):c.441C>G (p.Gly147=)
|
|
|
|
NM_000231.3(SGCG):c.447A>G (p.Pro149=)
|
rs2137617646
|
|
|
NM_000231.3(SGCG):c.447A>T (p.Pro149=)
|
|
|
|
NM_000231.3(SGCG):c.450A>G (p.Leu150=)
|
|
|
|
NM_000231.3(SGCG):c.456T>C (p.Thr152=)
|
|
|
|
NM_000231.3(SGCG):c.459A>G (p.Val153=)
|
|
|
|
NM_000231.3(SGCG):c.501A>G (p.Val167=)
|
|
|
|
NM_000231.3(SGCG):c.505+14C>G
|
|
|
|
NM_000231.3(SGCG):c.505+15G>T
|
rs144143366
|
|
|
NM_000231.3(SGCG):c.505+20A>G
|
rs2137617840
|
|
|
NM_000231.3(SGCG):c.506-10T>A
|
rs2137644577
|
|
|
NM_000231.3(SGCG):c.506-15T>C
|
rs1364745131
|
|
|
NM_000231.3(SGCG):c.506-4T>C
|
|
|
|
NM_000231.3(SGCG):c.506-5T>C
|
|
|
|
NM_000231.3(SGCG):c.506-6G>T
|
rs1347438845
|
|
|
NM_000231.3(SGCG):c.507G>A (p.Gly169=)
|
rs199905729
|
|
|
NM_000231.3(SGCG):c.507G>T (p.Gly169=)
|
rs199905729
|
|
|
NM_000231.3(SGCG):c.510T>C (p.Pro170=)
|
|
|
|
NM_000231.3(SGCG):c.519T>C (p.Ala173=)
|
|
|
|
NM_000231.3(SGCG):c.552C>A (p.Val184=)
|
|
|
|
NM_000231.3(SGCG):c.555A>G (p.Arg185=)
|
|
|
|
NM_000231.3(SGCG):c.558C>A (p.Ala186=)
|
rs766503990
|
|
|
NM_000231.3(SGCG):c.578+13G>A
|
|
|
|
NM_000231.3(SGCG):c.578+8T>G
|
rs1359141230
|
|
|
NM_000231.3(SGCG):c.578+9T>C
|
rs757092281
|
|
|
NM_000231.3(SGCG):c.578+9_578+20del
|
rs2137644904
|
|
|
NM_000231.3(SGCG):c.579-10C>G
|
|
|
|
NM_000231.3(SGCG):c.579-10C>T
|
rs1232043975
|
|
|
NM_000231.3(SGCG):c.579-11C>T
|
|
|
|
NM_000231.3(SGCG):c.579-15_579-12dup
|
|
|
|
NM_000231.3(SGCG):c.579-16C>A
|
|
|
|
NM_000231.3(SGCG):c.579-16_579-14del
|
|
|
|
NM_000231.3(SGCG):c.579-7A>C
|
rs371758035
|
|
|
NM_000231.3(SGCG):c.579-8C>T
|
|
|
|
NM_000231.3(SGCG):c.579-9T>C
|
rs2137528009
|
|
|
NM_000231.3(SGCG):c.57G>A (p.Glu19=)
|
|
|
|
NM_000231.3(SGCG):c.594T>C (p.Thr198=)
|
|
|
|
NM_000231.3(SGCG):c.615C>T (p.Ala205=)
|
|
|
|
NM_000231.3(SGCG):c.618A>C (p.Pro206=)
|
|
|
|
NM_000231.3(SGCG):c.627G>A (p.Val209=)
|
|
|
|
NM_000231.3(SGCG):c.630T>C (p.His210=)
|
|
|
|
NM_000231.3(SGCG):c.63G>A (p.Gln21=)
|
rs1459310219
|
|
|
NM_000231.3(SGCG):c.684T>C (p.Phe228=)
|
rs1593112867
|
|
|
NM_000231.3(SGCG):c.687T>C (p.His229=)
|
|
|
|
NM_000231.3(SGCG):c.69C>T (p.Val23=)
|
|
|
|
NM_000231.3(SGCG):c.702+12C>T
|
|
|
|
NM_000231.3(SGCG):c.702+9A>C
|
|
|
|
NM_000231.3(SGCG):c.703-16A>G
|
|
|
|
NM_000231.3(SGCG):c.703-17C>T
|
|
|
|
NM_000231.3(SGCG):c.703-19C>G
|
|
|
|
NM_000231.3(SGCG):c.723T>A (p.Thr241=)
|
|
|
|
NM_000231.3(SGCG):c.723T>G (p.Thr241=)
|
rs2137534041
|
|
|
NM_000231.3(SGCG):c.729C>T (p.Cys243=)
|
|
|
|
NM_000231.3(SGCG):c.750G>C (p.Gly250=)
|
|
|
|
NM_000231.3(SGCG):c.753G>C (p.Thr251=)
|
|
|
|
NM_000231.3(SGCG):c.759T>A (p.Gly253=)
|
rs2137534128
|
|
|
NM_000231.3(SGCG):c.768C>A (p.Gly256=)
|
rs2137534138
|
|
|
NM_000231.3(SGCG):c.768C>G (p.Gly256=)
|
|
|
|
NM_000231.3(SGCG):c.771C>T (p.Ser257=)
|
|
|
|
NM_000231.3(SGCG):c.804A>G (p.Pro268=)
|
|
|
|
NM_000231.3(SGCG):c.819C>T (p.Tyr273=)
|
rs1566049887
|
|
|
NM_000231.3(SGCG):c.820C>T (p.Leu274=)
|
|
|
|
NM_000231.3(SGCG):c.828G>A (p.Val276=)
|
|
|
|
NM_000231.3(SGCG):c.837G>A (p.Val279=)
|
|
|
|
NM_000231.3(SGCG):c.846G>A (p.Thr282=)
|
rs778036404
|
|
|
NM_000231.3(SGCG):c.84T>C (p.Ile28=)
|
rs1031067187
|
|
|
NM_000231.3(SGCG):c.852G>A (p.Gln284=)
|
|
|
|
NM_000231.3(SGCG):c.860A>C (p.Asn287Thr)
|
|
|
|
NM_000231.3(SGCG):c.867C>A (p.Ile289=)
|
|
|
|
NM_000231.3(SGCG):c.868T>G (p.Cys290Gly)
|
|
|
|
NM_000231.3(SGCG):c.99G>A (p.Lys33=)
|
rs778502285
|
|
|
NM_000232.5(SGCB):c.111C>T (p.Asn37=)
|
rs2109376000
|
|
|
NM_000232.5(SGCB):c.120T>C (p.Phe40=)
|
|
|
|
NM_000232.5(SGCB):c.126T>C (p.Ala42=)
|
|
|
|
NM_000232.5(SGCB):c.12G>A (p.Ala4=)
|
|
|
|
NM_000232.5(SGCB):c.12G>C (p.Ala4=)
|
rs758245081
|
|
|
NM_000232.5(SGCB):c.12G>T (p.Ala4=)
|
rs758245081
|
|
|
NM_000232.5(SGCB):c.132C>T (p.Tyr44=)
|
|
|
|
NM_000232.5(SGCB):c.141T>A (p.Ile47=)
|
|
|
|
NM_000232.5(SGCB):c.150T>C (p.Asp50=)
|
rs765583649
|
|
|
NM_000232.5(SGCB):c.156C>T (p.Leu52=)
|
rs1553940675
|
|
|
NM_000232.5(SGCB):c.159C>T (p.His53=)
|
|
|
|
NM_000232.5(SGCB):c.15G>A (p.Ala5=)
|
|
|
|
NM_000232.5(SGCB):c.169T>C (p.Leu57=)
|
rs962846702
|
|
|
NM_000232.5(SGCB):c.21G>A (p.Ala7=)
|
|
|
|
NM_000232.5(SGCB):c.222C>T (p.Ile74=)
|
|
|
|
NM_000232.5(SGCB):c.243+11G>A
|
|
|
|
NM_000232.5(SGCB):c.243+11G>C
|
|
|
|
NM_000232.5(SGCB):c.244-10T>G
|
rs2109372120
|
|
|
NM_000232.5(SGCB):c.244-12G>A
|
|
|
|
NM_000232.5(SGCB):c.244-14G>A
|
|
|
|
NM_000232.5(SGCB):c.244-17C>T
|
|
|
|
NM_000232.5(SGCB):c.244-19G>C
|
|
|
|
NM_000232.5(SGCB):c.244-9C>G
|
|
|
|
NM_000232.5(SGCB):c.249A>C (p.Thr83=)
|
rs565862702
|
|
|
NM_000232.5(SGCB):c.249A>G (p.Thr83=)
|
rs565862702
|
|
|
NM_000232.5(SGCB):c.249A>T (p.Thr83=)
|
rs565862702
|
|
|
NM_000232.5(SGCB):c.24T>C (p.Ala8=)
|
rs2109380841
|
|
|
NM_000232.5(SGCB):c.252T>C (p.Leu84=)
|
|
|
|
NM_000232.5(SGCB):c.258T>C (p.Ile86=)
|
rs2109372068
|
|
|
NM_000232.5(SGCB):c.264C>G (p.Ala88=)
|
|
|
|
NM_000232.5(SGCB):c.267G>A (p.Val89=)
|
rs2109372042
|
|
|
NM_000232.5(SGCB):c.273C>T (p.Arg91=)
|
rs776434241
|
|
|
NM_000232.5(SGCB):c.27A>G (p.Ala9=)
|
|
|
|
NM_000232.5(SGCB):c.285T>C (p.Asn95=)
|
|
|
|
NM_000232.5(SGCB):c.288C>T (p.Gly96=)
|
rs2109372010
|
|
|
NM_000232.5(SGCB):c.315T>C (p.Ser105=)
|
rs2109371980
|
|
|
NM_000232.5(SGCB):c.318C>G (p.Gly106=)
|
rs1335790481
|
|
|
NM_000232.5(SGCB):c.318C>T (p.Gly106=)
|
|
|
|
NM_000232.5(SGCB):c.319C>T (p.Leu107=)
|
|
|
|
NM_000232.5(SGCB):c.33+11A>G
|
|
|
|
NM_000232.5(SGCB):c.33+12C>A
|
|
|
|
NM_000232.5(SGCB):c.33+12C>T
|
|
|
|
NM_000232.5(SGCB):c.33+13C>A
|
|
|
|
NM_000232.5(SGCB):c.33+13C>G
|
|
|
|
NM_000232.5(SGCB):c.33+13C>T
|
|
|
|
NM_000232.5(SGCB):c.33+15C>T
|
|
|
|
NM_000232.5(SGCB):c.33+16C>T
|
rs765157791
|
|
|
NM_000232.5(SGCB):c.33+17G>C
|
|
|
|
NM_000232.5(SGCB):c.33+18C>T
|
|
|
|
NM_000232.5(SGCB):c.33+7G>A
|
rs2109380783
|
|
|
NM_000232.5(SGCB):c.33+9G>C
|
rs886043257
|
|
|
NM_000232.5(SGCB):c.333G>A (p.Lys111=)
|
|
|
|
NM_000232.5(SGCB):c.339A>G (p.Val113=)
|
|
|
|
NM_000232.5(SGCB):c.34-13A>G
|
|
|
|
NM_000232.5(SGCB):c.34-15G>A
|
|
|
|
NM_000232.5(SGCB):c.34-18G>A
|
|
|
|
NM_000232.5(SGCB):c.34-20A>G
|
|
|
|
NM_000232.5(SGCB):c.34-9C>A
|
rs886059439
|
|
|
NM_000232.5(SGCB):c.357C>T (p.Ile119=)
|
rs2109371913
|
|
|
NM_000232.5(SGCB):c.360C>T (p.His120=)
|
|
|
|
NM_000232.5(SGCB):c.368A>C (p.Tyr123Ser)
|
rs398123263
|
|
|
NM_000232.5(SGCB):c.372A>G (p.Lys124=)
|
|
|
|
NM_000232.5(SGCB):c.378A>G (p.Thr126=)
|
|
|
|
NM_000232.5(SGCB):c.403T>C (p.Leu135=)
|
rs1737198985
|
|
|
NM_000232.5(SGCB):c.405G>A (p.Leu135=)
|
rs1655158646
|
|
|
NM_000232.5(SGCB):c.408C>T (p.Val136=)
|
rs2109371822
|
|
|
NM_000232.5(SGCB):c.417C>A (p.Gly139=)
|
|
|
|
NM_000232.5(SGCB):c.426G>A (p.Gln142=)
|
|
|
|
NM_000232.5(SGCB):c.429+12C>T
|
|
|
|
NM_000232.5(SGCB):c.429+15T>G
|
|
|
|
NM_000232.5(SGCB):c.429+17A>T
|
|
|
|
NM_000232.5(SGCB):c.429+18C>A
|
rs2109371767
|
|
|
NM_000232.5(SGCB):c.42C>T (p.Ser14=)
|
|
|
|
NM_000232.5(SGCB):c.430-10T>C
|
rs1553940172
|
|
|
NM_000232.5(SGCB):c.430-13_430-12del
|
|
|
|
NM_000232.5(SGCB):c.430-13del
|
|
|
|
NM_000232.5(SGCB):c.430-16A>G
|
|
|
|
NM_000232.5(SGCB):c.430-17A>G
|
|
|
|
NM_000232.5(SGCB):c.430-4G>A
|
|
|
|
NM_000232.5(SGCB):c.430-7T>C
|
rs2109371163
|
|
|
NM_000232.5(SGCB):c.430-8T>C
|
|
|
|
NM_000232.5(SGCB):c.456G>A (p.Lys152=)
|
rs2109371116
|
|
|
NM_000232.5(SGCB):c.459C>T (p.Leu153=)
|
rs1737178749
|
|
|
NM_000232.5(SGCB):c.45T>C (p.Asn15=)
|
|
|
|
NM_000232.5(SGCB):c.483T>C (p.Ser161=)
|
rs759737437
|
|
|
NM_000232.5(SGCB):c.519G>C (p.Pro173=)
|
|
|
|
NM_000232.5(SGCB):c.51T>C (p.Pro17=)
|
rs964563108
|
|
|
NM_000232.5(SGCB):c.520A>C (p.Arg174=)
|
|
|
|
NM_000232.5(SGCB):c.522G>A (p.Arg174=)
|
|
|
|
NM_000232.5(SGCB):c.531T>C (p.Asn177=)
|
rs2109371002
|
|
|
NM_000232.5(SGCB):c.538T>C (p.Phe180Leu)
|
rs536728645
|
|
|
NM_000232.5(SGCB):c.546A>G (p.Thr182=)
|
|
|
|
NM_000232.5(SGCB):c.571T>C (p.Leu191=)
|
|
|
|
NM_000232.5(SGCB):c.579T>C (p.Ser193=)
|
rs2109370917
|
|
|
NM_000232.5(SGCB):c.582A>C (p.Gly194=)
|
|
|
|
NM_000232.5(SGCB):c.582A>G (p.Gly194=)
|
|
|
|
NM_000232.5(SGCB):c.597T>C (p.Asn199=)
|
rs1737174455
|
|
|
NM_000232.5(SGCB):c.612T>C (p.Ser204=)
|
|
|
|
NM_000232.5(SGCB):c.621+14G>T
|
|
|
|
NM_000232.5(SGCB):c.621+14del
|
|
|
|
NM_000232.5(SGCB):c.621+15C>T
|
|
|
|
NM_000232.5(SGCB):c.621+16T>C
|
|
|
|
NM_000232.5(SGCB):c.621+18del
|
|
|
|
NM_000232.5(SGCB):c.621+20T>A
|
|
|
|
NM_000232.5(SGCB):c.621+9T>C
|
rs1578125562
|
|
|
NM_000232.5(SGCB):c.622-10A>G
|
|
|
|
NM_000232.5(SGCB):c.622-12T>G
|
|
|
|
NM_000232.5(SGCB):c.622-16T>C
|
|
|
|
NM_000232.5(SGCB):c.622-17G>C
|
|
|
|
NM_000232.5(SGCB):c.622-17G>T
|
|
|
|
NM_000232.5(SGCB):c.622-20C>A
|
|
|
|
NM_000232.5(SGCB):c.622-30_622-19del
|
rs2109370138
|
|
|
NM_000232.5(SGCB):c.627C>T (p.Thr209=)
|
rs1578125189
|
|
|
NM_000232.5(SGCB):c.630C>T (p.Ser210=)
|
rs2109370066
|
|
|
NM_000232.5(SGCB):c.636T>C (p.Ala212=)
|
|
|
|
NM_000232.5(SGCB):c.639C>T (p.Thr213=)
|
rs535718115
|
|
|
NM_000232.5(SGCB):c.63C>T (p.Ser21=)
|
|
|
|
NM_000232.5(SGCB):c.660T>C (p.Val220=)
|
rs2109370022
|
|
|
NM_000232.5(SGCB):c.675T>C (p.Ile225=)
|
|
|
|
NM_000232.5(SGCB):c.678G>A (p.Val226=)
|
rs2109370000
|
|
|
NM_000232.5(SGCB):c.681T>A (p.Arg227=)
|
|
|
|
NM_000232.5(SGCB):c.6G>A (p.Ala2=)
|
|
|
|
NM_000232.5(SGCB):c.6G>C (p.Ala2=)
|
|
|
|
NM_000232.5(SGCB):c.6G>T (p.Ala2=)
|
|
|
|
NM_000232.5(SGCB):c.735T>C (p.Gly245=)
|
|
|
|
NM_000232.5(SGCB):c.753+19G>A
|
|
|
|
NM_000232.5(SGCB):c.753+20C>T
|
|
|
|
NM_000232.5(SGCB):c.753+7A>G
|
rs2109369879
|
|
|
NM_000232.5(SGCB):c.753+7A>T
|
rs2109369879
|
|
|
NM_000232.5(SGCB):c.754-13A>C
|
|
|
|
NM_000232.5(SGCB):c.754-14T>A
|
|
|
|
NM_000232.5(SGCB):c.754-7C>T
|
|
|
|
NM_000232.5(SGCB):c.754-8C>T
|
rs2110209677
|
|
|
NM_000232.5(SGCB):c.75G>A (p.Lys25=)
|
rs2109376069
|
|
|
NM_000232.5(SGCB):c.765C>T (p.Ile255=)
|
|
|
|
NM_000232.5(SGCB):c.771A>C (p.Leu257=)
|
rs2110209659
|
|
|
NM_000232.5(SGCB):c.777A>T (p.Gly259=)
|
rs758559559
|
|
|
NM_000232.5(SGCB):c.780T>C (p.Ser260=)
|
|
|
|
NM_000232.5(SGCB):c.783G>C (p.Val261=)
|
|
|
|
NM_000232.5(SGCB):c.78T>C (p.Ala26=)
|
|
|
|
NM_000232.5(SGCB):c.798C>A (p.Thr266=)
|
rs182784793
|
|
|
NM_000232.5(SGCB):c.804A>C (p.Leu268=)
|
rs1737023796
|
|
|
NM_000232.5(SGCB):c.813C>T (p.Ser271=)
|
rs2110209615
|
|
|
NM_000232.5(SGCB):c.829T>C (p.Leu277=)
|
rs745818288
|
|
|
NM_000232.5(SGCB):c.858G>A (p.Lys286=)
|
rs2110209580
|
|
|
NM_000232.5(SGCB):c.87A>G (p.Arg29=)
|
|
|
|
NM_000232.5(SGCB):c.882G>C (p.Thr294=)
|
rs572922347
|
|
|
NM_000232.5(SGCB):c.885C>G (p.Leu295=)
|
|
|
|
NM_000232.5(SGCB):c.885C>T (p.Leu295=)
|
|
|
|
NM_000232.5(SGCB):c.88A>C (p.Arg30=)
|
rs2109376040
|
|
|
NM_000232.5(SGCB):c.891G>A (p.Lys297=)
|
|
|
|
NM_000232.5(SGCB):c.903C>T (p.Thr301=)
|
|
|
|
NM_000232.5(SGCB):c.906C>T (p.Ser302=)
|
rs1737020220
|
|
|
NM_000232.5(SGCB):c.90G>A (p.Arg30=)
|
rs11541942
|
|
|
NM_000232.5(SGCB):c.921C>T (p.Cys307=)
|
|
|
|
NM_000232.5(SGCB):c.930A>C (p.Ser310=)
|
rs145108543
|
|
|
NM_000232.5(SGCB):c.930A>G (p.Ser310=)
|
rs145108543
|
|
|
NM_000232.5(SGCB):c.936C>T (p.Asn312=)
|
rs1184617433
|
|
|
NM_000232.5(SGCB):c.945A>G (p.Gly315=)
|
rs2110209464
|
|
|
NM_000232.5(SGCB):c.954T>C (p.His318=)
|
|
|
|
NM_000232.5(SGCB):c.957A>G (p.Ter319=)
|
|
|
|
NM_000232.5(SGCB):c.96C>A (p.Val32=)
|
rs2109376016
|
|
|
NM_000232.5(SGCB):c.9A>T (p.Ala3=)
|
|
|
|
NM_000256.3(MYBPC3):c.1008C>T (p.Ile336=)
|
rs397515880
|
|
|
NM_000256.3(MYBPC3):c.1011C>G (p.Ala337=)
|
rs2142864233
|
|
|
NM_000256.3(MYBPC3):c.1053G>A (p.Arg351=)
|
|
|
|
NM_000256.3(MYBPC3):c.105G>A (p.Arg35=)
|
rs2142869770
|
|
|
NM_000256.3(MYBPC3):c.1068G>A (p.Arg356=)
|
rs2095893922
|
|
|
NM_000256.3(MYBPC3):c.1071C>T (p.Arg357=)
|
rs371308153
|
|
|
NM_000256.3(MYBPC3):c.1077G>A (p.Glu359=)
|
|
|
|
NM_000256.3(MYBPC3):c.1083G>A (p.Lys361=)
|
|
|
|
NM_000256.3(MYBPC3):c.1086C>T (p.Ser362=)
|
|
|
|
NM_000256.3(MYBPC3):c.1090+16G>A
|
|
|
|
NM_000256.3(MYBPC3):c.1090+18G>A
|
rs769777453
|
|
|
NM_000256.3(MYBPC3):c.1090+19G>T
|
|
|
|
NM_000256.3(MYBPC3):c.1090+8C>T
|
rs543147859
|
|
|
NM_000256.3(MYBPC3):c.1091-13G>A
|
|
|
|
NM_000256.3(MYBPC3):c.1091-5C>T
|
|
|
|
NM_000256.3(MYBPC3):c.1091-7T>C
|
rs2142862333
|
|
|
NM_000256.3(MYBPC3):c.1104G>A (p.Lys368=)
|
rs1565628536
|
|
|
NM_000256.3(MYBPC3):c.1116C>T (p.Ala372=)
|
rs1595846868
|
|
|
NM_000256.3(MYBPC3):c.1143C>A (p.Ile381=)
|
rs1555122449
|
|
|
NM_000256.3(MYBPC3):c.1147C>T (p.Leu383=)
|
rs11570077
|
|
|
NM_000256.3(MYBPC3):c.1191C>T (p.Leu397=)
|
rs1319991948
|
|
|
NM_000256.3(MYBPC3):c.1197T>C (p.Asn399=)
|
|
|
|
NM_000256.3(MYBPC3):c.1212G>A (p.Gln404=)
|
|
|
|
NM_000256.3(MYBPC3):c.1223+17G>C
|
|
|
|
NM_000256.3(MYBPC3):c.1223+19A>G
|
|
|
|
NM_000256.3(MYBPC3):c.1223+8C>T
|
rs2142862158
|
|
|
NM_000256.3(MYBPC3):c.1224-10T>G
|
|
|
|
NM_000256.3(MYBPC3):c.1224-14C>T
|
|
|
|
NM_000256.3(MYBPC3):c.1226+13C>T
|
|
|
|
NM_000256.3(MYBPC3):c.1227-5C>A
|
|
|
|
NM_000256.3(MYBPC3):c.1227-5C>T
|
|
|
|
NM_000256.3(MYBPC3):c.1227-6A>G
|
rs1595846573
|
|
|
NM_000256.3(MYBPC3):c.1260C>A (p.Thr420=)
|
rs1461148074
|
|
|
NM_000256.3(MYBPC3):c.1263G>C (p.Leu421=)
|
|
|
|
NM_000256.3(MYBPC3):c.1278C>T (p.Cys426=)
|
rs746770543
|
|
|
NM_000256.3(MYBPC3):c.1296A>C (p.Ala432=)
|
rs869172982
|
|
|
NM_000256.3(MYBPC3):c.1311G>C (p.Val437=)
|
rs1060504240
|
|
|
NM_000256.3(MYBPC3):c.1326G>A (p.Lys442=)
|
rs771832243
|
|
|
NM_000256.3(MYBPC3):c.132C>G (p.Arg44=)
|
rs377579620
|
|
|
NM_000256.3(MYBPC3):c.1335G>C (p.Thr445=)
|
rs727503205
|
|
|
NM_000256.3(MYBPC3):c.1341C>G (p.Leu447=)
|
|
|
|
NM_000256.3(MYBPC3):c.1351+19G>A
|
|
|
|
NM_000256.3(MYBPC3):c.1352-10G>A
|
rs745645848
|
|
|
NM_000256.3(MYBPC3):c.1352-10G>T
|
rs745645848
|
|
|
NM_000256.3(MYBPC3):c.1352-18C>A
|
rs1279275222
|
|
|
NM_000256.3(MYBPC3):c.1352-18C>G
|
|
|
|
NM_000256.3(MYBPC3):c.1352-5G>C
|
rs770888201
|
|
|
NM_000256.3(MYBPC3):c.1365C>T (p.Leu455=)
|
rs780854746
|
|
|
NM_000256.3(MYBPC3):c.1371G>A (p.Thr457=)
|
rs538072263
|
|
|
NM_000256.3(MYBPC3):c.1374C>T (p.Arg458=)
|
rs1057521555
|
|
|
NM_000256.3(MYBPC3):c.1383G>A (p.Glu461=)
|
|
|
|
NM_000256.3(MYBPC3):c.1404G>A (p.Gly468=)
|
rs1595846367
|
|
|
NM_000256.3(MYBPC3):c.1404G>T (p.Gly468=)
|
|
|
|
NM_000256.3(MYBPC3):c.1431A>G (p.Val477=)
|
rs587781042
|
|
|
NM_000256.3(MYBPC3):c.1434G>C (p.Ser478=)
|
|
|
|
NM_000256.3(MYBPC3):c.1446G>A (p.Ala482=)
|
rs747627648
|
|
|
NM_000256.3(MYBPC3):c.1446G>T (p.Ala482=)
|
|
|
|
NM_000256.3(MYBPC3):c.1457+17C>T
|
|
|
|
NM_000256.3(MYBPC3):c.1457+19G>C
|
|
|
|
NM_000256.3(MYBPC3):c.1457+20G>A
|
|
|
|
NM_000256.3(MYBPC3):c.1458-10A>G
|
|
|
|
NM_000256.3(MYBPC3):c.1458-18A>G
|
rs2095890140
|
|
|
NM_000256.3(MYBPC3):c.1470G>A (p.Gly490=)
|
|
|
|
NM_000256.3(MYBPC3):c.1476G>A (p.Glu492=)
|
rs2142861184
|
|
|
NM_000256.3(MYBPC3):c.147C>A (p.Ile49=)
|
rs774273586
|
|
|
NM_000256.3(MYBPC3):c.1482C>T (p.Thr494=)
|
rs756101990
|
|
|
NM_000256.3(MYBPC3):c.1483C>A (p.Arg495=)
|
|
|
|
NM_000256.3(MYBPC3):c.1530C>T (p.His510=)
|
rs2095889975
|
|
|
NM_000256.3(MYBPC3):c.1534C>T (p.Leu512=)
|
|
|
|
NM_000256.3(MYBPC3):c.1548G>A (p.Glu516=)
|
|
|
|
NM_000256.3(MYBPC3):c.1557G>T (p.Leu519=)
|
|
|
|
NM_000256.3(MYBPC3):c.1587T>C (p.Thr529=)
|
|
|
|
NM_000256.3(MYBPC3):c.1593G>C (p.Gly531=)
|
rs727503199
|
|
|
NM_000256.3(MYBPC3):c.1602G>T (p.Ala534=)
|
|
|
|
NM_000256.3(MYBPC3):c.1605G>A (p.Leu535=)
|
|
|
|
NM_000256.3(MYBPC3):c.1608T>C (p.Ala536=)
|
|
|
|
NM_000256.3(MYBPC3):c.1617T>C (p.Ile539=)
|
|
|
|
NM_000256.3(MYBPC3):c.1624+12dup
|
|
|
|
NM_000256.3(MYBPC3):c.1624+13G>C
|
rs397515913
|
|
|
NM_000256.3(MYBPC3):c.1624+13G>T
|
rs397515913
|
|
|
NM_000256.3(MYBPC3):c.1624+15G>C
|
|
|
|
NM_000256.3(MYBPC3):c.1624+15G>T
|
|
|
|
NM_000256.3(MYBPC3):c.1624+17G>A
|
|
|
|
NM_000256.3(MYBPC3):c.1624+18G>A
|
|
|
|
NM_000256.3(MYBPC3):c.1624+19G>A
|
|
|
|
NM_000256.3(MYBPC3):c.1624+9G>T
|
|
|
|
NM_000256.3(MYBPC3):c.1625-12C>T
|
rs786204342
|
|
|
NM_000256.3(MYBPC3):c.1625-14G>T
|
rs2095889357
|
|
|
NM_000256.3(MYBPC3):c.1625-7C>A
|
|
|
|
NM_000256.3(MYBPC3):c.1659C>T (p.Asp553=)
|
|
|
|
NM_000256.3(MYBPC3):c.1713G>A (p.Glu571=)
|
rs1060504241
|
|
|
NM_000256.3(MYBPC3):c.1716T>C (p.Asn572=)
|
rs1248057767
|
|
|
NM_000256.3(MYBPC3):c.1719T>A (p.Val573=)
|
rs397515921
|
|
|
NM_000256.3(MYBPC3):c.1743G>A (p.Gly581=)
|
rs2142860163
|
|
|
NM_000256.3(MYBPC3):c.1750C>T (p.Leu584=)
|
rs2095889133
|
|
|
NM_000256.3(MYBPC3):c.1755G>A (p.Val585=)
|
|
|
|
NM_000256.3(MYBPC3):c.1761C>T (p.Asp587=)
|
|
|
|
NM_000256.3(MYBPC3):c.1764C>T (p.Ser588=)
|
rs747918558
|
|
|
NM_000256.3(MYBPC3):c.1790+12G>C
|
|
|
|
NM_000256.3(MYBPC3):c.1790+13G>C
|
rs754240709
|
|
|
NM_000256.3(MYBPC3):c.1790+20G>C
|
|
|
|
NM_000256.3(MYBPC3):c.1790+8_1790+9del
|
rs2142860055
|
|
|
NM_000256.3(MYBPC3):c.1791-10T>C
|
|
|
|
NM_000256.3(MYBPC3):c.1791-11C>A
|
|
|
|
NM_000256.3(MYBPC3):c.1791-9C>A
|
rs776017963
|
|
|
NM_000256.3(MYBPC3):c.1791-9C>T
|
rs776017963
|
|
|
NM_000256.3(MYBPC3):c.180G>A (p.Glu60=)
|
|
|
|
NM_000256.3(MYBPC3):c.1821A>G (p.Thr607=)
|
rs758306575
|
|
|
NM_000256.3(MYBPC3):c.1822C>T (p.Pro608Ser)
|
rs730880552
|
|
|
NM_000256.3(MYBPC3):c.1827C>G (p.Ala609=)
|
rs535853707
|
|
|
NM_000256.3(MYBPC3):c.1884G>A (p.Lys628=)
|
rs1595845517
|
|
|
NM_000256.3(MYBPC3):c.1897+17G>A
|
|
|
|
NM_000256.3(MYBPC3):c.1897+7C>T
|
rs2095888020
|
|
|
NM_000256.3(MYBPC3):c.1897+9G>A
|
|
|
|
NM_000256.3(MYBPC3):c.1898-10T>C
|
|
|
|
NM_000256.3(MYBPC3):c.1898-14T>G
|
|
|
|
NM_000256.3(MYBPC3):c.1898-18C>A
|
|
|
|
NM_000256.3(MYBPC3):c.1898-4G>A
|
rs2095887900
|
|
|
NM_000256.3(MYBPC3):c.1898-4G>T
|
rs2095887900
|
|
|
NM_000256.3(MYBPC3):c.1898-9C>G
|
|
|
|
NM_000256.3(MYBPC3):c.1927+10G>T
|
rs780505387
|
|
|
NM_000256.3(MYBPC3):c.1927+11G>C
|
|
|
|
NM_000256.3(MYBPC3):c.1927+13G>A
|
|
|
|
NM_000256.3(MYBPC3):c.1927+14C>A
|
|
|
|
NM_000256.3(MYBPC3):c.1927+18T>C
|
|
|
|
NM_000256.3(MYBPC3):c.1927+8T>C
|
rs751950275
|
|
|
NM_000256.3(MYBPC3):c.1928-15T>C
|
|
|
|
NM_000256.3(MYBPC3):c.1928-19T>A
|
rs1057521020
|
|
|
NM_000256.3(MYBPC3):c.1928-4G>C
|
rs1324763333
|
|
|
NM_000256.3(MYBPC3):c.1928-9C>T
|
|
|
|
NM_000256.3(MYBPC3):c.1935C>G (p.Pro645=)
|
rs727503193
|
|
|
NM_000256.3(MYBPC3):c.1941C>A (p.Ile647=)
|
rs2095886505
|
|
|
NM_000256.3(MYBPC3):c.1947G>A (p.Leu649=)
|
rs757244311
|
|
|
NM_000256.3(MYBPC3):c.194C>T (p.Thr65Met)
|
rs753300898
|
|
|
NM_000256.3(MYBPC3):c.195G>A (p.Thr65=)
|
|
|
|
NM_000256.3(MYBPC3):c.195G>T (p.Thr65=)
|
|
|
|
NM_000256.3(MYBPC3):c.1983T>A (p.Val661=)
|
|
|
|
NM_000256.3(MYBPC3):c.2001A>G (p.Leu667=)
|
rs2095886373
|
|
|
NM_000256.3(MYBPC3):c.2013C>T (p.Val671=)
|
rs1168755518
|
|
|
NM_000256.3(MYBPC3):c.2019C>A (p.Ile673=)
|
rs746263346
|
|
|
NM_000256.3(MYBPC3):c.2019C>T (p.Ile673=)
|
rs746263346
|
|
|
NM_000256.3(MYBPC3):c.2037C>A (p.Pro679=)
|
rs749317445
|
|
|
NM_000256.3(MYBPC3):c.2040T>C (p.Thr680=)
|
rs2142857612
|
|
|
NM_000256.3(MYBPC3):c.2043G>A (p.Val681=)
|
|
|
|
NM_000256.3(MYBPC3):c.2046C>T (p.Ile682=)
|
|
|
|
NM_000256.3(MYBPC3):c.2058T>A (p.Ala686=)
|
|
|
|
NM_000256.3(MYBPC3):c.2061C>T (p.Ile687=)
|
rs1218888004
|
|
|
NM_000256.3(MYBPC3):c.2068-11C>T
|
|
|
|
NM_000256.3(MYBPC3):c.2068-12C>T
|
|
|
|
NM_000256.3(MYBPC3):c.2068-14T>G
|
|
|
|
NM_000256.3(MYBPC3):c.2068-9dup
|
|
|
|
NM_000256.3(MYBPC3):c.2079C>G (p.Ala693=)
|
rs2095885948
|
|
|
NM_000256.3(MYBPC3):c.207G>A (p.Arg69=)
|
rs397515946
|
|
|
NM_000256.3(MYBPC3):c.2091A>G (p.Pro697=)
|
|
|
|
NM_000256.3(MYBPC3):c.2103C>T (p.Ala701=)
|
rs2142857321
|
|
|
NM_000256.3(MYBPC3):c.2127T>C (p.Asp709=)
|
|
|
|
NM_000256.3(MYBPC3):c.2136G>A (p.Val712=)
|
rs876657511
|
|
|
NM_000256.3(MYBPC3):c.2145G>A (p.Lys715=)
|
rs2142857252
|
|
|
NM_000256.3(MYBPC3):c.2148+10A>T
|
rs2142857236
|
|
|
NM_000256.3(MYBPC3):c.2148+9G>C
|
|
|
|
NM_000256.3(MYBPC3):c.2149-13T>C
|
|
|
|
NM_000256.3(MYBPC3):c.2149-5C>A
|
rs36211722
|
|
|
NM_000256.3(MYBPC3):c.2149-8C>T
|
rs397515950
|
|
|
NM_000256.3(MYBPC3):c.2149-9C>T
|
rs773882783
|
|
|
NM_000256.3(MYBPC3):c.2190C>A (p.Thr730=)
|
rs878853832
|
|
|
NM_000256.3(MYBPC3):c.2205C>T (p.Ile735=)
|
|
|
|
NM_000256.3(MYBPC3):c.2211G>T (p.Thr737=)
|
rs113265977
|
|
|
NM_000256.3(MYBPC3):c.2217G>A (p.Glu739=)
|
rs786204348
|
|
|
NM_000256.3(MYBPC3):c.2244C>T (p.Val748=)
|
rs1555121454
|
|
|
NM_000256.3(MYBPC3):c.2247C>T (p.Tyr749=)
|
rs1319178519
|
|
|
NM_000256.3(MYBPC3):c.2250G>C (p.Thr750=)
|
rs373338699
|
|
|
NM_000256.3(MYBPC3):c.2256A>G (p.Thr752=)
|
rs2095884961
|
|
|
NM_000256.3(MYBPC3):c.2268T>C (p.Pro756=)
|
rs1595844260
|
|
|
NM_000256.3(MYBPC3):c.2280C>T (p.Asp760=)
|
|
|
|
NM_000256.3(MYBPC3):c.2286C>G (p.Val762=)
|
rs2142856547
|
|
|
NM_000256.3(MYBPC3):c.2295A>T (p.Thr765=)
|
|
|
|
NM_000256.3(MYBPC3):c.2308+12dup
|
rs768733322
|
|
|
NM_000256.3(MYBPC3):c.2308+15G>C
|
|
|
|
NM_000256.3(MYBPC3):c.2308+17T>G
|
|
|
|
NM_000256.3(MYBPC3):c.2308+20A>G
|
|
|
|
NM_000256.3(MYBPC3):c.2309-12C>T
|
rs2142855814
|
|
|
NM_000256.3(MYBPC3):c.2309-19T>A
|
|
|
|
NM_000256.3(MYBPC3):c.2309-20G>A
|
rs397515958
|
|
|
NM_000256.3(MYBPC3):c.231A>G (p.Gly77=)
|
rs1595850589
|
|
|
NM_000256.3(MYBPC3):c.2346C>T (p.Asn782=)
|
rs768638405
|
|
|
NM_000256.3(MYBPC3):c.2382G>A (p.Pro794=)
|
rs1565625459
|
|
|
NM_000256.3(MYBPC3):c.2406C>T (p.Pro802=)
|
|
|
|
NM_000256.3(MYBPC3):c.2413+17C>A
|
|
|
|
NM_000256.3(MYBPC3):c.2413+17C>T
|
rs773491094
|
|
|
NM_000256.3(MYBPC3):c.2414-19G>A
|
|
|
|
NM_000256.3(MYBPC3):c.2414-5G>C
|
rs1595843781
|
|
|
NM_000256.3(MYBPC3):c.2414-9C>G
|
rs1031194974
|
|
|
NM_000256.3(MYBPC3):c.2414-9C>T
|
|
|
|
NM_000256.3(MYBPC3):c.243C>A (p.Val81=)
|
|
|
|
NM_000256.3(MYBPC3):c.2442G>A (p.Lys814=)
|
|
|
|
NM_000256.3(MYBPC3):c.2449C>A (p.Arg817=)
|
rs727503188
|
|
|
NM_000256.3(MYBPC3):c.2451G>C (p.Arg817=)
|
|
|
|
NM_000256.3(MYBPC3):c.2458C>A (p.Arg820=)
|
rs775404728
|
|
|
NM_000256.3(MYBPC3):c.2463G>C (p.Leu821=)
|
|
|
|
NM_000256.3(MYBPC3):c.2466C>T (p.Asn822=)
|
rs1555121239
|
|
|
NM_000256.3(MYBPC3):c.2469C>T (p.Phe823=)
|
rs1555121238
|
|
|
NM_000256.3(MYBPC3):c.2499G>A (p.Ala833=)
|
rs397515967
|
|
|
NM_000256.3(MYBPC3):c.25+10G>A
|
rs368489793
|
|
|
NM_000256.3(MYBPC3):c.25+15G>A
|
|
|
|
NM_000256.3(MYBPC3):c.25+20T>C
|
rs2142870713
|
|
|
NM_000256.3(MYBPC3):c.2517C>A (p.Gly839=)
|
|
|
|
NM_000256.3(MYBPC3):c.2535C>A (p.Arg845=)
|
rs1288578869
|
|
|
NM_000256.3(MYBPC3):c.2535C>T (p.Arg845=)
|
rs1288578869
|
|
|
NM_000256.3(MYBPC3):c.2541C>T (p.Tyr847=)
|
rs397515974
|
|
|
NM_000256.3(MYBPC3):c.2568G>A (p.Arg856=)
|
rs773032022
|
|
|
NM_000256.3(MYBPC3):c.2571C>T (p.Pro857=)
|
rs2142855133
|
|
|
NM_000256.3(MYBPC3):c.2583C>G (p.Ser861=)
|
|
|
|
NM_000256.3(MYBPC3):c.2583C>T (p.Ser861=)
|
|
|
|
NM_000256.3(MYBPC3):c.258C>G (p.Ser86=)
|
|
|
|
NM_000256.3(MYBPC3):c.26-13C>T
|
rs1161603409
|
|
|
NM_000256.3(MYBPC3):c.26-19C>T
|
rs768992849
|
|
|
NM_000256.3(MYBPC3):c.26-5T>G
|
|
|
|
NM_000256.3(MYBPC3):c.2602+15C>A
|
|
|
|
NM_000256.3(MYBPC3):c.2602+9G>A
|
rs960769310
|
|
|
NM_000256.3(MYBPC3):c.2603-17A>C
|
|
|
|
NM_000256.3(MYBPC3):c.2603-18G>C
|
|
|
|
NM_000256.3(MYBPC3):c.2603-24CT[2]
|
rs754653776
|
|
|
NM_000256.3(MYBPC3):c.2603-5C>T
|
rs753396472
|
|
|
NM_000256.3(MYBPC3):c.2604T>A (p.Gly868=)
|
rs1463564133
|
|
|
NM_000256.3(MYBPC3):c.2619C>T (p.Pro873=)
|
|
|
|
NM_000256.3(MYBPC3):c.2628G>T (p.Leu876=)
|
rs1317628263
|
|
|
NM_000256.3(MYBPC3):c.2634A>G (p.Val878=)
|
|
|
|
NM_000256.3(MYBPC3):c.2661C>T (p.Ser887=)
|
rs1454714638
|
|
|
NM_000256.3(MYBPC3):c.2676C>G (p.Pro892=)
|
rs559961809
|
|
|
NM_000256.3(MYBPC3):c.2685C>T (p.Arg895=)
|
rs1595843026
|
|
|
NM_000256.3(MYBPC3):c.2703G>A (p.Leu901=)
|
rs1037394922
|
|
|
NM_000256.3(MYBPC3):c.2715C>T (p.Ser905=)
|
rs759920601
|
|
|
NM_000256.3(MYBPC3):c.2727C>T (p.Cys909=)
|
rs886038822
|
|
|
NM_000256.3(MYBPC3):c.2733G>A (p.Glu911=)
|
rs1385242275
|
|
|
NM_000256.3(MYBPC3):c.2737+20A>G
|
rs2095881689
|
|
|
NM_000256.3(MYBPC3):c.2737+9C>T
|
rs1565624501
|
|
|
NM_000256.3(MYBPC3):c.2738-16C>T
|
|
|
|
NM_000256.3(MYBPC3):c.2738-4C>T
|
rs752196981
|
|
|
NM_000256.3(MYBPC3):c.2760G>A (p.Leu920=)
|
rs1595842606
|
|
|
NM_000256.3(MYBPC3):c.2769G>A (p.Leu923=)
|
|
|
|
NM_000256.3(MYBPC3):c.2769G>C (p.Leu923=)
|
|
|
|
NM_000256.3(MYBPC3):c.2781A>G (p.Thr927=)
|
|
|
|
NM_000256.3(MYBPC3):c.2784G>A (p.Ser928=)
|
rs372510974
|
|
|
NM_000256.3(MYBPC3):c.2805C>G (p.Pro935=)
|
rs878853833
|
|
|
NM_000256.3(MYBPC3):c.2805C>T (p.Pro935=)
|
rs878853833
|
|
|
NM_000256.3(MYBPC3):c.2808G>C (p.Thr936=)
|
rs370530334
|
|
|
NM_000256.3(MYBPC3):c.2850A>G (p.Ala950=)
|
|
|
|
NM_000256.3(MYBPC3):c.2862C>A (p.Ala954=)
|
|
|
|
NM_000256.3(MYBPC3):c.2880G>A (p.Glu960=)
|
|
|
|
NM_000256.3(MYBPC3):c.2889A>G (p.Thr963=)
|
rs2095880894
|
|
|
NM_000256.3(MYBPC3):c.2901C>A (p.Ile967=)
|
rs2095880876
|
|
|
NM_000256.3(MYBPC3):c.2905+448A>G
|
|
|
|
NM_000256.3(MYBPC3):c.2905+9C>T
|
rs1057520951
|
|
|
NM_000256.3(MYBPC3):c.2906-14C>T
|
|
|
|
NM_000256.3(MYBPC3):c.2906-18C>G
|
|
|
|
NM_000256.3(MYBPC3):c.2906-4A>C
|
rs2142851996
|
|
|
NM_000256.3(MYBPC3):c.2906-5C>T
|
rs1595842091
|
|
|
NM_000256.3(MYBPC3):c.2916G>T (p.Arg972=)
|
|
|
|
NM_000256.3(MYBPC3):c.292+15A>T
|
|
|
|
NM_000256.3(MYBPC3):c.292+9C>G
|
rs752388318
|
|
|
NM_000256.3(MYBPC3):c.293-14C>G
|
rs2142868841
|
|
|
NM_000256.3(MYBPC3):c.293-19C>T
|
|
|
|
NM_000256.3(MYBPC3):c.293-9C>T
|
rs759307749
|
|
|
NM_000256.3(MYBPC3):c.2940C>A (p.Arg980=)
|
|
|
|
NM_000256.3(MYBPC3):c.2946C>A (p.Thr982=)
|
rs2095879947
|
|
|
NM_000256.3(MYBPC3):c.2991C>T (p.Phe997=)
|
rs1555120642
|
|
|
NM_000256.3(MYBPC3):c.2994+11C>T
|
|
|
|
NM_000256.3(MYBPC3):c.2995-19A>C
|
rs2095879756
|
|
|
NM_000256.3(MYBPC3):c.2995-8C>T
|
|
|
|
NM_000256.3(MYBPC3):c.2995-9T>A
|
rs1243985803
|
|
|
NM_000256.3(MYBPC3):c.3006G>A (p.Arg1002=)
|
|
|
|
NM_000256.3(MYBPC3):c.3009T>G (p.Pro1003=)
|
|
|
|
NM_000256.3(MYBPC3):c.3015G>A (p.Val1005=)
|
|
|
|
NM_000256.3(MYBPC3):c.3018C>G (p.Thr1006=)
|
rs2095879689
|
|
|
NM_000256.3(MYBPC3):c.3030G>A (p.Glu1010=)
|
|
|
|
NM_000256.3(MYBPC3):c.3057G>A (p.Val1019=)
|
rs750618688
|
|
|
NM_000256.3(MYBPC3):c.3075C>T (p.Pro1025=)
|
rs1595841864
|
|
|
NM_000256.3(MYBPC3):c.3087C>T (p.Ile1029=)
|
rs201515977
|
|
|
NM_000256.3(MYBPC3):c.3090G>A (p.Leu1030=)
|
rs770351760
|
|
|
NM_000256.3(MYBPC3):c.3108C>T (p.Arg1036=)
|
|
|
|
NM_000256.3(MYBPC3):c.3111C>T (p.Arg1037=)
|
|
|
|
NM_000256.3(MYBPC3):c.3114G>C (p.Val1038=)
|
rs1595841809
|
|
|
NM_000256.3(MYBPC3):c.3123C>G (p.Gly1041=)
|
rs374626656
|
|
|
NM_000256.3(MYBPC3):c.3129C>T (p.Tyr1043=)
|
rs573821685
|
|
|
NM_000256.3(MYBPC3):c.3168C>A (p.Ala1056=)
|
rs373208282
|
|
|
NM_000256.3(MYBPC3):c.3190+12A>G
|
rs2142851297
|
|
|
NM_000256.3(MYBPC3):c.3190+13G>A
|
|
|
|
NM_000256.3(MYBPC3):c.3191-20dup
|
|
|
|
NM_000256.3(MYBPC3):c.3191-4G>A
|
rs764672273
|
|
|
NM_000256.3(MYBPC3):c.3191-4G>T
|
|
|
|
NM_000256.3(MYBPC3):c.3195G>A (p.Lys1065=)
|
rs867542132
|
|
|
NM_000256.3(MYBPC3):c.3225T>C (p.Thr1075=)
|
rs374289617
|
|
|
NM_000256.3(MYBPC3):c.3231C>G (p.Ala1077=)
|
rs1362951992
|
|
|
NM_000256.3(MYBPC3):c.3276C>A (p.Val1092=)
|
rs376344765
|
|
|
NM_000256.3(MYBPC3):c.3285G>C (p.Thr1095=)
|
rs367927327
|
|
|
NM_000256.3(MYBPC3):c.3297G>T (p.Gly1099=)
|
rs371301665
|
|
|
NM_000256.3(MYBPC3):c.3303A>G (p.Thr1101=)
|
|
|
|
NM_000256.3(MYBPC3):c.3315C>T (p.Ala1105=)
|
rs200372325
|
|
|
NM_000256.3(MYBPC3):c.3330+11G>A
|
|
|
|
NM_000256.3(MYBPC3):c.3330+12G>A
|
|
|
|
NM_000256.3(MYBPC3):c.3330+19G>A
|
|
|
|
NM_000256.3(MYBPC3):c.3330+19G>T
|
rs1401434819
|
|
|
NM_000256.3(MYBPC3):c.3339C>T (p.Phe1113=)
|
|
|
|
NM_000256.3(MYBPC3):c.333T>C (p.Ala111=)
|
rs397516017
|
|
|
NM_000256.3(MYBPC3):c.336G>A (p.Glu112=)
|
rs2142868749
|
|
|
NM_000256.3(MYBPC3):c.3381A>G (p.Pro1127=)
|
|
|
|
NM_000256.3(MYBPC3):c.3390C>T (p.Ile1130=)
|
|
|
|
NM_000256.3(MYBPC3):c.3408C>T (p.Tyr1136=)
|
rs193922383
|
|
|
NM_000256.3(MYBPC3):c.3417C>A (p.Val1139=)
|
rs1460458866
|
|
|
NM_000256.3(MYBPC3):c.3423C>T (p.Ser1141=)
|
|
|
|
NM_000256.3(MYBPC3):c.3447C>T (p.Asp1149=)
|
|
|
|
NM_000256.3(MYBPC3):c.3462C>T (p.Thr1154=)
|
rs2142850233
|
|
|
NM_000256.3(MYBPC3):c.3468G>A (p.Glu1156=)
|
|
|
|
NM_000256.3(MYBPC3):c.3471C>T (p.Pro1157=)
|
rs962554743
|
|
|
NM_000256.3(MYBPC3):c.348C>A (p.Ala116=)
|
rs886039198
|
|
|
NM_000256.3(MYBPC3):c.3490+17C>T
|
|
|
|
NM_000256.3(MYBPC3):c.3490+8A>G
|
|
|
|
NM_000256.3(MYBPC3):c.3491-16G>A
|
rs746217139
|
|
|
NM_000256.3(MYBPC3):c.3491-9C>T
|
rs2142850071
|
|
|
NM_000256.3(MYBPC3):c.3492C>T (p.Gly1164=)
|
rs779273875
|
|
|
NM_000256.3(MYBPC3):c.3516T>C (p.Tyr1172=)
|
|
|
|
NM_000256.3(MYBPC3):c.3519G>A (p.Lys1173=)
|
rs1555120305
|
|
|
NM_000256.3(MYBPC3):c.3522C>T (p.Ala1174=)
|
|
|
|
NM_000256.3(MYBPC3):c.3558C>G (p.Pro1186=)
|
|
|
|
NM_000256.3(MYBPC3):c.3606T>C (p.Cys1202=)
|
rs1032233055
|
|
|
NM_000256.3(MYBPC3):c.3615G>C (p.Arg1205=)
|
rs771292799
|
|
|
NM_000256.3(MYBPC3):c.3627+12T>C
|
|
|
|
NM_000256.3(MYBPC3):c.3627+16C>T
|
|
|
|
NM_000256.3(MYBPC3):c.3627+20G>A
|
|
|
|
NM_000256.3(MYBPC3):c.3628-17_3628-14del
|
rs1397090654
|
|
|
NM_000256.3(MYBPC3):c.3628-18_3628-14del
|
|
|
|
NM_000256.3(MYBPC3):c.3628-20T>C
|
rs2142849602
|
|
|
NM_000256.3(MYBPC3):c.3628-21C>T
|
rs1047687250
|
|
|
NM_000256.3(MYBPC3):c.3628-22C>T
|
|
|
|
NM_000256.3(MYBPC3):c.3628-27C>G
|
rs1365764907
|
|
|
NM_000256.3(MYBPC3):c.3628-27C>T
|
|
|
|
NM_000256.3(MYBPC3):c.3628-29T>C
|
rs2142849616
|
|
|
NM_000256.3(MYBPC3):c.3628-30C>G
|
|
|
|
NM_000256.3(MYBPC3):c.3628-34_3628-33del
|
|
|
|
NM_000256.3(MYBPC3):c.3628-45_3628-42del
|
rs778272913
|
|
|
NM_000256.3(MYBPC3):c.3628-47C>T
|
|
|
|
NM_000256.3(MYBPC3):c.3628-6_3628-3del
|
|
|
|
NM_000256.3(MYBPC3):c.3663G>A (p.Leu1221=)
|
|
|
|
NM_000256.3(MYBPC3):c.3675C>T (p.Ala1225=)
|
|
|
|
NM_000256.3(MYBPC3):c.3696G>A (p.Lys1232=)
|
|
|
|
NM_000256.3(MYBPC3):c.3702A>G (p.Gly1234=)
|
|
|
|
NM_000256.3(MYBPC3):c.372C>A (p.Ala124=)
|
rs11570046
|
|
|
NM_000256.3(MYBPC3):c.3732C>T (p.Cys1244=)
|
rs730880600
|
|
|
NM_000256.3(MYBPC3):c.3735C>T (p.Pro1245=)
|
|
|
|
NM_000256.3(MYBPC3):c.3756C>G (p.Val1252=)
|
rs374760003
|
|
|
NM_000256.3(MYBPC3):c.3765C>T (p.Ala1255=)
|
rs1354801986
|
|
|
NM_000256.3(MYBPC3):c.3783G>A (p.Glu1261=)
|
rs1036127423
|
|
|
NM_000256.3(MYBPC3):c.3798C>T (p.Cys1266=)
|
|
|
|
NM_000256.3(MYBPC3):c.3801C>T (p.Arg1267=)
|
rs541377415
|
|
|
NM_000256.3(MYBPC3):c.3814+13C>A
|
rs764528392
|
|
|
NM_000256.3(MYBPC3):c.3814+8G>A
|
|
|
|
NM_000256.3(MYBPC3):c.3815-14C>T
|
rs1003286810
|
|
|
NM_000256.3(MYBPC3):c.3815-4G>A
|
|
|
|
NM_000256.3(MYBPC3):c.406+15G>A
|
|
|
|
NM_000256.3(MYBPC3):c.406+16C>G
|
|
|
|
NM_000256.3(MYBPC3):c.406+20G>A
|
|
|
|
NM_000256.3(MYBPC3):c.406+8G>A
|
|
|
|
NM_000256.3(MYBPC3):c.407-4A>G
|
rs2095899066
|
|
|
NM_000256.3(MYBPC3):c.407-7C>T
|
rs1595849981
|
|
|
NM_000256.3(MYBPC3):c.407-8del
|
|
|
|
NM_000256.3(MYBPC3):c.408G>A (p.Gly136=)
|
|
|
|
NM_000256.3(MYBPC3):c.438C>A (p.Thr146=)
|
rs1210177781
|
|
|
NM_000256.3(MYBPC3):c.450C>G (p.Pro150=)
|
rs377520770
|
|
|
NM_000256.3(MYBPC3):c.45G>A (p.Lys15=)
|
|
|
|
NM_000256.3(MYBPC3):c.465C>T (p.Gly155=)
|
rs1381779840
|
|
|
NM_000256.3(MYBPC3):c.468C>A (p.Leu156=)
|
|
|
|
NM_000256.3(MYBPC3):c.489T>C (p.Asp163=)
|
|
|
|
NM_000256.3(MYBPC3):c.48A>G (p.Pro16=)
|
rs2142869846
|
|
|
NM_000256.3(MYBPC3):c.498G>A (p.Val166=)
|
rs2142868026
|
|
|
NM_000256.3(MYBPC3):c.49C>A (p.Arg17=)
|
rs747857800
|
|
|
NM_000256.3(MYBPC3):c.505+13T>C
|
|
|
|
NM_000256.3(MYBPC3):c.505+15C>T
|
|
|
|
NM_000256.3(MYBPC3):c.506-10_506-9delinsT
|
|
|
|
NM_000256.3(MYBPC3):c.506-12_506-9delinsTTT
|
rs2095898684
|
|
|
NM_000256.3(MYBPC3):c.506-14C>T
|
|
|
|
NM_000256.3(MYBPC3):c.506-16G>A
|
|
|
|
NM_000256.3(MYBPC3):c.506-17C>G
|
|
|
|
NM_000256.3(MYBPC3):c.506-19G>A
|
|
|
|
NM_000256.3(MYBPC3):c.506-19G>C
|
|
|
|
NM_000256.3(MYBPC3):c.506-19G>T
|
|
|
|
NM_000256.3(MYBPC3):c.506-8C>T
|
|
|
|
NM_000256.3(MYBPC3):c.506-8del
|
|
|
|
NM_000256.3(MYBPC3):c.522C>T (p.Phe174=)
|
rs2142867847
|
|
|
NM_000256.3(MYBPC3):c.531C>A (p.Arg177=)
|
|
|
|
NM_000256.3(MYBPC3):c.537C>G (p.Ala179=)
|
|
|
|
NM_000256.3(MYBPC3):c.546C>T (p.Ser182=)
|
|
|
|
NM_000256.3(MYBPC3):c.591G>A (p.Val197=)
|
|
|
|
NM_000256.3(MYBPC3):c.606G>A (p.Lys202=)
|
rs2095898450
|
|
|
NM_000256.3(MYBPC3):c.618C>T (p.His206=)
|
|
|
|
NM_000256.3(MYBPC3):c.619C>T (p.Leu207=)
|
rs965921552
|
|
|
NM_000256.3(MYBPC3):c.63G>A (p.Val21=)
|
rs2095900994
|
|
|
NM_000256.3(MYBPC3):c.654+14G>C
|
|
|
|
NM_000256.3(MYBPC3):c.654+8C>A
|
|
|
|
NM_000256.3(MYBPC3):c.655-10A>G
|
|
|
|
NM_000256.3(MYBPC3):c.655-17T>C
|
|
|
|
NM_000256.3(MYBPC3):c.655-19C>T
|
|
|
|
NM_000256.3(MYBPC3):c.655-6A>G
|
|
|
|
NM_000256.3(MYBPC3):c.663G>C (p.Leu221=)
|
rs2142866390
|
|
|
NM_000256.3(MYBPC3):c.672G>T (p.Leu224=)
|
rs1035118341
|
|
|
NM_000256.3(MYBPC3):c.675C>T (p.His225=)
|
rs2142866361
|
|
|
NM_000256.3(MYBPC3):c.684T>C (p.Asp228=)
|
|
|
|
NM_000256.3(MYBPC3):c.690G>A (p.Gln230=)
|
rs1060504239
|
|
|
NM_000256.3(MYBPC3):c.696C>G (p.Ala232=)
|
rs2142866318
|
|
|
NM_000256.3(MYBPC3):c.705_706inv (p.Ser236Gly)
|
|
|
|
NM_000256.3(MYBPC3):c.765T>C (p.Thr255=)
|
rs1555123092
|
|
|
NM_000256.3(MYBPC3):c.768C>A (p.Val256=)
|
rs886048382
|
|
|
NM_000256.3(MYBPC3):c.772+9G>A
|
rs566339669
|
|
|
NM_000256.3(MYBPC3):c.772+9G>C
|
rs566339669
|
|
|
NM_000256.3(MYBPC3):c.773-10T>C
|
|
|
|
NM_000256.3(MYBPC3):c.773-11_773-10dup
|
rs2095896066
|
|
|
NM_000256.3(MYBPC3):c.773-19C>G
|
|
|
|
NM_000256.3(MYBPC3):c.773-4C>A
|
|
|
|
NM_000256.3(MYBPC3):c.773-4C>T
|
rs2142865711
|
|
|
NM_000256.3(MYBPC3):c.774G>A (p.Glu258=)
|
|
|
|
NM_000256.3(MYBPC3):c.777C>T (p.Ala259=)
|
rs2142865699
|
|
|
NM_000256.3(MYBPC3):c.821+16C>T
|
|
|
|
NM_000256.3(MYBPC3):c.821+20G>A
|
|
|
|
NM_000256.3(MYBPC3):c.822-13_822-12del
|
|
|
|
NM_000256.3(MYBPC3):c.822-20A>G
|
|
|
|
NM_000256.3(MYBPC3):c.826C>T (p.Leu276=)
|
rs2142865421
|
|
|
NM_000256.3(MYBPC3):c.828G>A (p.Leu276=)
|
|
|
|
NM_000256.3(MYBPC3):c.841C>A (p.Arg281=)
|
rs371711564
|
|
|
NM_000256.3(MYBPC3):c.844C>A (p.Arg282=)
|
rs727504234
|
|
|
NM_000256.3(MYBPC3):c.849C>T (p.Ile283=)
|
rs1595848448
|
|
|
NM_000256.3(MYBPC3):c.851+10C>A
|
|
|
|
NM_000256.3(MYBPC3):c.851+9G>T
|
rs1221246371
|
|
|
NM_000256.3(MYBPC3):c.852-10C>G
|
rs750425291
|
|
|
NM_000256.3(MYBPC3):c.852-10C>T
|
|
|
|
NM_000256.3(MYBPC3):c.852-12C>T
|
|
|
|
NM_000256.3(MYBPC3):c.852-17G>C
|
rs1369422685
|
|
|
NM_000256.3(MYBPC3):c.852-18G>A
|
|
|
|
NM_000256.3(MYBPC3):c.852-20C>A
|
rs371941585
|
|
|
NM_000256.3(MYBPC3):c.852-20C>G
|
rs371941585
|
|
|
NM_000256.3(MYBPC3):c.852-4A>C
|
rs1235513938
|
|
|
NM_000256.3(MYBPC3):c.879G>C (p.Leu293=)
|
|
|
|
NM_000256.3(MYBPC3):c.891A>G (p.Ser297=)
|
|
|
|
NM_000256.3(MYBPC3):c.891A>T (p.Ser297=)
|
rs1210358762
|
|
|
NM_000256.3(MYBPC3):c.906-16T>C
|
|
|
|
NM_000256.3(MYBPC3):c.906-20CTG[5]
|
rs751038432
|
|
|
NM_000256.3(MYBPC3):c.906-5C>G
|
|
|
|
NM_000256.3(MYBPC3):c.908+13G>A
|
rs1321998052
|
|
|
NM_000256.3(MYBPC3):c.908+16T>G
|
|
|
|
NM_000256.3(MYBPC3):c.908+16del
|
|
|
|
NM_000256.3(MYBPC3):c.908+7A>G
|
|
|
|
NM_000256.3(MYBPC3):c.909-10C>T
|
rs1318902939
|
|
|
NM_000256.3(MYBPC3):c.909-17C>A
|
|
|
|
NM_000256.3(MYBPC3):c.909-8T>C
|
rs1260212325
|
|
|
NM_000256.3(MYBPC3):c.921C>G (p.Thr307=)
|
rs370632180
|
|
|
NM_000256.3(MYBPC3):c.926+13C>T
|
|
|
|
NM_000256.3(MYBPC3):c.926+16A>G
|
|
|
|
NM_000256.3(MYBPC3):c.926+8C>G
|
rs377595584
|
|
|
NM_000256.3(MYBPC3):c.933G>A (p.Ser311=)
|
rs374326087
|
|
|
NM_000256.3(MYBPC3):c.942G>A (p.Glu314=)
|
|
|
|
NM_000256.3(MYBPC3):c.945A>T (p.Ala315=)
|
rs2142864375
|
|
|
NM_000256.3(MYBPC3):c.954G>A (p.Glu318=)
|
|
|
|
NM_000256.3(MYBPC3):c.978G>T (p.Arg326=)
|
rs1471686460
|
|
|
NM_000257.4(MYH7):c.1000-10del
|
|
|
|
NM_000257.4(MYH7):c.1000-11C>T
|
|
|
|
NM_000257.4(MYH7):c.1000-14G>C
|
|
|
|
NM_000257.4(MYH7):c.1000-17A>G
|
rs765837145
|
|
|
NM_000257.4(MYH7):c.1000-6del
|
|
|
|
NM_000257.4(MYH7):c.1062C>G (p.Gly354=)
|
rs735712
|
|
|
NM_000257.4(MYH7):c.1113G>A (p.Glu371=)
|
rs1892853203
|
|
|
NM_000257.4(MYH7):c.111C>T (p.Val37=)
|
rs1339202491
|
|
|
NM_000257.4(MYH7):c.1128C>A (p.Asp376Glu)
|
rs2231126
|
|
|
NM_000257.4(MYH7):c.1138+16T>C
|
|
|
|
NM_000257.4(MYH7):c.1138+7G>A
|
rs886050423
|
|
|
NM_000257.4(MYH7):c.1139-11T>C
|
|
|
|
NM_000257.4(MYH7):c.1139-13C>G
|
rs1057524644
|
|
|
NM_000257.4(MYH7):c.1139-14C>A
|
|
|
|
NM_000257.4(MYH7):c.1139-16T>G
|
|
|
|
NM_000257.4(MYH7):c.1139-18C>T
|
|
|
|
NM_000257.4(MYH7):c.1139-4C>G
|
rs886050422
|
|
|
NM_000257.4(MYH7):c.1143T>C (p.Ala381=)
|
|
|
|
NM_000257.4(MYH7):c.1155C>G (p.Ala385=)
|
|
|
|
NM_000257.4(MYH7):c.1185G>A (p.Leu395=)
|
|
|
|
NM_000257.4(MYH7):c.1188C>A (p.Leu396=)
|
rs1458466127
|
|
|
NM_000257.4(MYH7):c.1188C>T (p.Leu396=)
|
|
|
|
NM_000257.4(MYH7):c.1218G>A (p.Val406=)
|
rs1259526865
|
|
|
NM_000257.4(MYH7):c.1221C>A (p.Gly407=)
|
rs2138675864
|
|
|
NM_000257.4(MYH7):c.1221C>G (p.Gly407=)
|
rs2138675864
|
|
|
NM_000257.4(MYH7):c.1242G>A (p.Gly414=)
|
|
|
|
NM_000257.4(MYH7):c.1257+7C>T
|
rs759480696
|
|
|
NM_000257.4(MYH7):c.1258-14C>T
|
|
|
|
NM_000257.4(MYH7):c.1258-17T>C
|
rs2138675472
|
|
|
NM_000257.4(MYH7):c.1258-4G>T
|
|
|
|
NM_000257.4(MYH7):c.1258-9A>T
|
rs1892817047
|
|
|
NM_000257.4(MYH7):c.1260G>A (p.Val420=)
|
rs1555338342
|
|
|
NM_000257.4(MYH7):c.1272T>C (p.Thr424=)
|
|
|
|
NM_000257.4(MYH7):c.1293G>A (p.Val431=)
|
rs1043370463
|
|
|
NM_000257.4(MYH7):c.1299G>A (p.Glu433=)
|
rs1892814899
|
|
|
NM_000257.4(MYH7):c.1323G>C (p.Thr441=)
|
rs397516096
|
|
|
NM_000257.4(MYH7):c.132G>A (p.Gln44=)
|
|
|
|
NM_000257.4(MYH7):c.1335C>T (p.Ala445=)
|
|
|
|
NM_000257.4(MYH7):c.1353G>A (p.Gln451=)
|
rs144047238
|
|
|
NM_000257.4(MYH7):c.1356A>G (p.Pro452=)
|
rs1595086770
|
|
|
NM_000257.4(MYH7):c.1359C>G (p.Arg453=)
|
rs890974007
|
|
|
NM_000257.4(MYH7):c.1362G>A (p.Gln454=)
|
|
|
|
NM_000257.4(MYH7):c.1380G>A (p.Leu460=)
|
|
|
|
NM_000257.4(MYH7):c.1407+11A>G
|
|
|
|
NM_000257.4(MYH7):c.1407+12C>A
|
|
|
|
NM_000257.4(MYH7):c.1407+14C>T
|
|
|
|
NM_000257.4(MYH7):c.1407+15C>A
|
|
|
|
NM_000257.4(MYH7):c.1407+7T>A
|
rs1026185796
|
|
|
NM_000257.4(MYH7):c.1408-10C>T
|
|
|
|
NM_000257.4(MYH7):c.1408-11G>A
|
|
|
|
NM_000257.4(MYH7):c.1408-13A>G
|
|
|
|
NM_000257.4(MYH7):c.1408-16C>T
|
|
|
|
NM_000257.4(MYH7):c.1408-18C>T
|
|
|
|
NM_000257.4(MYH7):c.1408-8C>T
|
rs764196309
|
|
|
NM_000257.4(MYH7):c.1422G>A (p.Glu474=)
|
|
|
|
NM_000257.4(MYH7):c.1425G>A (p.Gln475=)
|
|
|
|
NM_000257.4(MYH7):c.1431C>T (p.Cys477=)
|
|
|
|
NM_000257.4(MYH7):c.1437C>T (p.Asn479=)
|
rs2138674282
|
|
|
NM_000257.4(MYH7):c.144G>A (p.Lys48=)
|
|
|
|
NM_000257.4(MYH7):c.1453C>T (p.Leu485=)
|
rs1595086332
|
|
|
NM_000257.4(MYH7):c.1467C>T (p.Phe489=)
|
rs2138674221
|
|
|
NM_000257.4(MYH7):c.147C>G (p.Ala49=)
|
rs766100117
|
|
|
NM_000257.4(MYH7):c.147C>T (p.Ala49=)
|
rs766100117
|
|
|
NM_000257.4(MYH7):c.1497G>A (p.Glu499=)
|
|
|
|
NM_000257.4(MYH7):c.1542C>A (p.Gly514=)
|
|
|
|
NM_000257.4(MYH7):c.156G>A (p.Val52=)
|
rs397516112
|
|
|
NM_000257.4(MYH7):c.1572C>T (p.Ile524=)
|
|
|
|
NM_000257.4(MYH7):c.1578+10T>C
|
rs1656287836
|
|
|
NM_000257.4(MYH7):c.1578+12G>T
|
|
|
|
NM_000257.4(MYH7):c.1578+13C>G
|
|
|
|
NM_000257.4(MYH7):c.1578+13C>T
|
rs1178580158
|
|
|
NM_000257.4(MYH7):c.1578+20A>G
|
|
|
|
NM_000257.4(MYH7):c.1578+20A>T
|
rs1555338228
|
|
|
NM_000257.4(MYH7):c.1578+9T>G
|
rs1339319984
|
|
|
NM_000257.4(MYH7):c.1579-10G>T
|
|
|
|
NM_000257.4(MYH7):c.1579-8T>C
|
rs2138672644
|
|
|
NM_000257.4(MYH7):c.1596C>A (p.Ser532=)
|
rs745682419
|
|
|
NM_000257.4(MYH7):c.1602G>A (p.Leu534=)
|
rs1566534221
|
|
|
NM_000257.4(MYH7):c.1611G>A (p.Glu537=)
|
rs781288581
|
|
|
NM_000257.4(MYH7):c.1632C>G (p.Thr544=)
|
rs587781089
|
|
|
NM_000257.4(MYH7):c.1653G>A (p.Lys551=)
|
rs368160680
|
|
|
NM_000257.4(MYH7):c.1656G>A (p.Leu552=)
|
rs1595085492
|
|
|
NM_000257.4(MYH7):c.1662C>T (p.Asp554=)
|
|
|
|
NM_000257.4(MYH7):c.1671G>T (p.Leu557=)
|
rs149386750
|
|
|
NM_000257.4(MYH7):c.1686C>T (p.Asn562=)
|
rs2138672359
|
|
|
NM_000257.4(MYH7):c.168T>C (p.Gly56=)
|
|
|
|
NM_000257.4(MYH7):c.1692G>A (p.Gln564=)
|
rs2138672346
|
|
|
NM_000257.4(MYH7):c.171C>A (p.Gly57=)
|
|
|
|
NM_000257.4(MYH7):c.171C>T (p.Gly57=)
|
rs1893033915
|
|
|
NM_000257.4(MYH7):c.1743C>T (p.His581=)
|
rs747113847
|
|
|
NM_000257.4(MYH7):c.1755C>A (p.Ile585=)
|
rs201860580
|
|
|
NM_000257.4(MYH7):c.1755C>T (p.Ile585=)
|
rs201860580
|
|
|
NM_000257.4(MYH7):c.1758G>A (p.Val586=)
|
|
|
|
NM_000257.4(MYH7):c.1776C>T (p.Gly592=)
|
rs2138672119
|
|
|
NM_000257.4(MYH7):c.177C>T (p.Val59=)
|
rs2138686535
|
|
|
NM_000257.4(MYH7):c.1782G>T (p.Leu594=)
|
|
|
|
NM_000257.4(MYH7):c.1788G>A (p.Lys596=)
|
rs606231325
|
|
|
NM_000257.4(MYH7):c.1809G>A (p.Glu603=)
|
|
|
|
NM_000257.4(MYH7):c.1815C>G (p.Val605=)
|
rs759226950
|
|
|
NM_000257.4(MYH7):c.1815C>T (p.Val605=)
|
rs759226950
|
|
|
NM_000257.4(MYH7):c.1818G>A (p.Val606=)
|
rs756461569
|
|
|
NM_000257.4(MYH7):c.1818G>C (p.Val606=)
|
|
|
|
NM_000257.4(MYH7):c.1824G>A (p.Leu608=)
|
rs2138671993
|
|
|
NM_000257.4(MYH7):c.1836T>G (p.Ser612=)
|
rs1444724812
|
|
|
NM_000257.4(MYH7):c.183C>A (p.Ala61=)
|
rs370743876
|
|
|
NM_000257.4(MYH7):c.183C>G (p.Ala61=)
|
rs370743876
|
|
|
NM_000257.4(MYH7):c.183C>T (p.Ala61=)
|
rs370743876
|
|
|
NM_000257.4(MYH7):c.1848G>A (p.Leu616=)
|
|
|
|
NM_000257.4(MYH7):c.1860G>C (p.Leu620=)
|
rs1566533909
|
|
|
NM_000257.4(MYH7):c.186G>A (p.Glu62=)
|
rs1893033359
|
|
|
NM_000257.4(MYH7):c.1878G>A (p.Gly626=)
|
rs1595085200
|
|
|
NM_000257.4(MYH7):c.1884T>C (p.Asp628=)
|
rs772814092
|
|
|
NM_000257.4(MYH7):c.1888+15A>C
|
|
|
|
NM_000257.4(MYH7):c.1888+17G>T
|
|
|
|
NM_000257.4(MYH7):c.1888+18C>T
|
rs764318752
|
|
|
NM_000257.4(MYH7):c.1888+8G>A
|
rs200668471
|
|
|
NM_000257.4(MYH7):c.1889-13C>T
|
|
|
|
NM_000257.4(MYH7):c.1889-18T>C
|
|
|
|
NM_000257.4(MYH7):c.1905A>G (p.Lys635=)
|
rs1293989007
|
|
|
NM_000257.4(MYH7):c.1917G>A (p.Lys639=)
|
rs1057523883
|
|
|
NM_000257.4(MYH7):c.1923C>G (p.Gly641=)
|
rs1892729854
|
|
|
NM_000257.4(MYH7):c.1926G>C (p.Ser642=)
|
|
|
|
NM_000257.4(MYH7):c.1956+17C>T
|
|
|
|
NM_000257.4(MYH7):c.1956+19C>T
|
|
|
|
NM_000257.4(MYH7):c.1956+20A>C
|
rs774605900
|
|
|
NM_000257.4(MYH7):c.1957-15C>A
|
rs1555338036
|
|
|
NM_000257.4(MYH7):c.1957-15C>G
|
rs1555338036
|
|
|
NM_000257.4(MYH7):c.1957-18T>C
|
rs764806428
|
|
|
NM_000257.4(MYH7):c.1957-6C>T
|
|
|
|
NM_000257.4(MYH7):c.195T>C (p.Tyr65=)
|
rs934278063
|
|
|
NM_000257.4(MYH7):c.1984T>C (p.Leu662=)
|
rs2138670291
|
|
|
NM_000257.4(MYH7):c.1989C>T (p.Arg663=)
|
|
|
|
NM_000257.4(MYH7):c.198C>G (p.Gly66=)
|
rs1385090050
|
|
|
NM_000257.4(MYH7):c.1995C>A (p.Thr665=)
|
rs773276752
|
|
|
NM_000257.4(MYH7):c.2001C>G (p.Pro667=)
|
rs748351798
|
|
|
NM_000257.4(MYH7):c.201+11G>A
|
rs1566538593
|
|
|
NM_000257.4(MYH7):c.201+16A>G
|
|
|
|
NM_000257.4(MYH7):c.201+18G>C
|
|
|
|
NM_000257.4(MYH7):c.202-7C>T
|
|
|
|
NM_000257.4(MYH7):c.2022C>A (p.Ile674=)
|
rs1892711463
|
|
|
NM_000257.4(MYH7):c.2044+16C>T
|
|
|
|
NM_000257.4(MYH7):c.2044+17A>T
|
|
|
|
NM_000257.4(MYH7):c.2045-14C>T
|
|
|
|
NM_000257.4(MYH7):c.2045-17C>T
|
|
|
|
NM_000257.4(MYH7):c.2045-20C>T
|
rs773185645
|
|
|
NM_000257.4(MYH7):c.2045-4A>G
|
rs2138669075
|
|
|
NM_000257.4(MYH7):c.2045-5C>T
|
|
|
|
NM_000257.4(MYH7):c.2045-6C>A
|
|
|
|
NM_000257.4(MYH7):c.2045-6C>G
|
|
|
|
NM_000257.4(MYH7):c.2045-9T>C
|
|
|
|
NM_000257.4(MYH7):c.2067C>A (p.Val689=)
|
rs1162320803
|
|
|
NM_000257.4(MYH7):c.2073C>T (p.His691=)
|
|
|
|
NM_000257.4(MYH7):c.2094G>A (p.Val698=)
|
|
|
|
NM_000257.4(MYH7):c.2109C>T (p.Arg703=)
|
rs1332209177
|
|
|
NM_000257.4(MYH7):c.210C>A (p.Thr70=)
|
rs774429242
|
|
|
NM_000257.4(MYH7):c.210C>G (p.Thr70=)
|
|
|
|
NM_000257.4(MYH7):c.2151C>T (p.Asp717=)
|
|
|
|
NM_000257.4(MYH7):c.2160G>A (p.Gln720=)
|
|
|
|
NM_000257.4(MYH7):c.2162+14T>C
|
|
|
|
NM_000257.4(MYH7):c.2162+16C>T
|
|
|
|
NM_000257.4(MYH7):c.2163-10C>T
|
|
|
|
NM_000257.4(MYH7):c.2163-14A>G
|
|
|
|
NM_000257.4(MYH7):c.2163-18G>A
|
rs606231333
|
|
|
NM_000257.4(MYH7):c.2163-22_2163-20del
|
|
|
|
NM_000257.4(MYH7):c.2163-8C>T
|
|
|
|
NM_000257.4(MYH7):c.2163-8del
|
rs1892675036
|
|
|
NM_000257.4(MYH7):c.2163-9C>A
|
|
|
|
NM_000257.4(MYH7):c.2169C>A (p.Arg723=)
|
|
|
|
NM_000257.4(MYH7):c.216G>A (p.Lys72=)
|
|
|
|
NM_000257.4(MYH7):c.2184G>C (p.Ala728=)
|
rs148650290
|
|
|
NM_000257.4(MYH7):c.2196G>A (p.Glu732=)
|
|
|
|
NM_000257.4(MYH7):c.2211T>C (p.Asp737=)
|
rs1595083496
|
|
|
NM_000257.4(MYH7):c.2217G>A (p.Arg739=)
|
rs727504429
|
|
|
NM_000257.4(MYH7):c.2235G>C (p.Leu745=)
|
rs977149094
|
|
|
NM_000257.4(MYH7):c.2245C>T (p.Leu749=)
|
|
|
|
NM_000257.4(MYH7):c.2247G>A (p.Leu749=)
|
rs2138668046
|
|
|
NM_000257.4(MYH7):c.2250C>T (p.Asp750=)
|
rs144942248
|
|
|
NM_000257.4(MYH7):c.225G>A (p.Gln75=)
|
rs1595091114
|
|
|
NM_000257.4(MYH7):c.2268C>T (p.Tyr756=)
|
rs1892667052
|
|
|
NM_000257.4(MYH7):c.2287-12C>T
|
rs2138667372
|
|
|
NM_000257.4(MYH7):c.2287-4G>A
|
rs1231476855
|
|
|
NM_000257.4(MYH7):c.2301C>G (p.Ala767=)
|
rs768380939
|
|
|
NM_000257.4(MYH7):c.2301C>T (p.Ala767=)
|
rs768380939
|
|
|
NM_000257.4(MYH7):c.2313G>A (p.Gly771=)
|
rs2138667275
|
|
|
NM_000257.4(MYH7):c.2322G>A (p.Glu774=)
|
rs1555337814
|
|
|
NM_000257.4(MYH7):c.2340G>A (p.Arg780=)
|
|
|
|
NM_000257.4(MYH7):c.2373G>A (p.Gln791=)
|
|
|
|
NM_000257.4(MYH7):c.2379A>G (p.Arg793=)
|
rs1595083048
|
|
|
NM_000257.4(MYH7):c.2382T>C (p.Gly794=)
|
rs1566531920
|
|
|
NM_000257.4(MYH7):c.2388C>T (p.Leu796=)
|
rs397516144
|
|
|
NM_000257.4(MYH7):c.2403C>T (p.Tyr801=)
|
rs775113608
|
|
|
NM_000257.4(MYH7):c.2412G>T (p.Leu804=)
|
rs2138666900
|
|
|
NM_000257.4(MYH7):c.2423+13A>T
|
|
|
|
NM_000257.4(MYH7):c.2423+20G>A
|
|
|
|
NM_000257.4(MYH7):c.2423+8A>G
|
rs774077429
|
|
|
NM_000257.4(MYH7):c.2424-11G>T
|
|
|
|
NM_000257.4(MYH7):c.2424-12G>C
|
|
|
|
NM_000257.4(MYH7):c.2424-13T>C
|
|
|
|
NM_000257.4(MYH7):c.2424-19T>C
|
|
|
|
NM_000257.4(MYH7):c.2424-20C>T
|
|
|
|
NM_000257.4(MYH7):c.2424-5T>C
|
rs397516146
|
|
|
NM_000257.4(MYH7):c.2424-7C>T
|
rs759141144
|
|
|
NM_000257.4(MYH7):c.2424-8C>G
|
|
|
|
NM_000257.4(MYH7):c.2424-9C>T
|
|
|
|
NM_000257.4(MYH7):c.2433G>C (p.Leu811=)
|
rs1234646629
|
|
|
NM_000257.4(MYH7):c.2433G>T (p.Leu811=)
|
|
|
|
NM_000257.4(MYH7):c.2436G>A (p.Leu812=)
|
rs1057524030
|
|
|
NM_000257.4(MYH7):c.2442C>T (p.Ile814=)
|
|
|
|
NM_000257.4(MYH7):c.2451C>T (p.Asn817=)
|
|
|
|
NM_000257.4(MYH7):c.2469G>A (p.Gly823=)
|
rs606231338
|
|
|
NM_000257.4(MYH7):c.2472C>G (p.Val824=)
|
rs397516150
|
|
|
NM_000257.4(MYH7):c.2517G>T (p.Leu839=)
|
|
|
|
NM_000257.4(MYH7):c.2520G>A (p.Leu840=)
|
rs1414097026
|
|
|
NM_000257.4(MYH7):c.2538G>A (p.Glu846=)
|
|
|
|
NM_000257.4(MYH7):c.2550C>T (p.Ala850=)
|
rs1386622819
|
|
|
NM_000257.4(MYH7):c.2613G>A (p.Lys871=)
|
|
|
|
NM_000257.4(MYH7):c.2619G>A (p.Leu873=)
|
rs771118861
|
|
|
NM_000257.4(MYH7):c.2646G>A (p.Gln882=)
|
rs1566531295
|
|
|
NM_000257.4(MYH7):c.2649G>A (p.Glu883=)
|
|
|
|
NM_000257.4(MYH7):c.264G>A (p.Glu88=)
|
|
|
|
NM_000257.4(MYH7):c.2673G>A (p.Val891=)
|
rs1314595260
|
|
|
NM_000257.4(MYH7):c.2676G>A (p.Gln892=)
|
rs2138665308
|
|
|
NM_000257.4(MYH7):c.2679+11T>C
|
|
|
|
NM_000257.4(MYH7):c.2679+12G>A
|
|
|
|
NM_000257.4(MYH7):c.2679+20G>A
|
|
|
|
NM_000257.4(MYH7):c.267C>T (p.Asp89=)
|
|
|
|
NM_000257.4(MYH7):c.2680-16T>C
|
|
|
|
NM_000257.4(MYH7):c.2680-19C>T
|
|
|
|
NM_000257.4(MYH7):c.2680-7C>T
|
|
|
|
NM_000257.4(MYH7):c.2680-9C>T
|
|
|
|
NM_000257.4(MYH7):c.2688C>T (p.Asp896=)
|
|
|
|
NM_000257.4(MYH7):c.2709G>A (p.Glu903=)
|
|
|
|
NM_000257.4(MYH7):c.2715T>C (p.Cys905=)
|
rs1231740034
|
|
|
NM_000257.4(MYH7):c.2724G>C (p.Leu908=)
|
rs1335308512
|
|
|
NM_000257.4(MYH7):c.2748G>A (p.Glu916=)
|
rs1060501437
|
|
|
NM_000257.4(MYH7):c.2805G>A (p.Glu935=)
|
rs201032556
|
|
|
NM_000257.4(MYH7):c.2844A>G (p.Ser948=)
|
|
|
|
NM_000257.4(MYH7):c.2853A>G (p.Lys951=)
|
|
|
|
NM_000257.4(MYH7):c.285C>T (p.Phe95=)
|
|
|
|
NM_000257.4(MYH7):c.2877G>A (p.Leu959=)
|
rs886039162
|
|
|
NM_000257.4(MYH7):c.2881C>T (p.Leu961=)
|
|
|
|
NM_000257.4(MYH7):c.2901G>A (p.Glu967=)
|
|
|
|
NM_000257.4(MYH7):c.2913A>G (p.Thr971=)
|
|
|
|
NM_000257.4(MYH7):c.2922+11C>A
|
|
|
|
NM_000257.4(MYH7):c.2922+15_2922+24del
|
|
|
|
NM_000257.4(MYH7):c.2922+16T>G
|
|
|
|
NM_000257.4(MYH7):c.2922+20G>A
|
|
|
|
NM_000257.4(MYH7):c.2922+9A>G
|
|
|
|
NM_000257.4(MYH7):c.2923-14T>G
|
rs2138662822
|
|
|
NM_000257.4(MYH7):c.2923-4G>A
|
rs1391789257
|
|
|
NM_000257.4(MYH7):c.2923-8G>C
|
|
|
|
NM_000257.4(MYH7):c.2923-9G>T
|
rs1595081459
|
|
|
NM_000257.4(MYH7):c.2925G>A (p.Val975=)
|
rs2138662754
|
|
|
NM_000257.4(MYH7):c.2931C>T (p.Asn977=)
|
rs757313728
|
|
|
NM_000257.4(MYH7):c.2940G>A (p.Glu980=)
|
|
|
|
NM_000257.4(MYH7):c.2955G>A (p.Leu985=)
|
rs886050420
|
|
|
NM_000257.4(MYH7):c.2958T>C (p.Asp986=)
|
rs140244068
|
|
|
NM_000257.4(MYH7):c.3006C>T (p.Ala1002=)
|
rs1057522386
|
|
|
NM_000257.4(MYH7):c.3012A>G (p.Gln1004=)
|
rs549538540
|
|
|
NM_000257.4(MYH7):c.3030T>G (p.Leu1010=)
|
rs747004925
|
|
|
NM_000257.4(MYH7):c.3048G>A (p.Lys1016=)
|
|
|
|
NM_000257.4(MYH7):c.3054C>T (p.Asn1018=)
|
rs1595081267
|
|
|
NM_000257.4(MYH7):c.3093G>C (p.Val1031=)
|
|
|
|
NM_000257.4(MYH7):c.3099+10T>C
|
|
|
|
NM_000257.4(MYH7):c.3099+15A>G
|
|
|
|
NM_000257.4(MYH7):c.3099+15A>T
|
|
|
|
NM_000257.4(MYH7):c.3099+19G>A
|
|
|
|
NM_000257.4(MYH7):c.3099+9A>G
|
|
|
|
NM_000257.4(MYH7):c.3100-11C>T
|
|
|
|
NM_000257.4(MYH7):c.3100-11CT[4]
|
rs780476751
|
|
|
NM_000257.4(MYH7):c.3100-14C>T
|
|
|
|
NM_000257.4(MYH7):c.3100-15C>T
|
rs534114622
|
|
|
NM_000257.4(MYH7):c.3100-16T>C
|
|
|
|
NM_000257.4(MYH7):c.3100-4C>A
|
|
|
|
NM_000257.4(MYH7):c.3100-5A>G
|
rs780522390
|
|
|
NM_000257.4(MYH7):c.3100-6T>C
|
|
|
|
NM_000257.4(MYH7):c.3100-9C>T
|
rs2138659247
|
|
|
NM_000257.4(MYH7):c.3111C>T (p.Ser1037=)
|
rs2138659177
|
|
|
NM_000257.4(MYH7):c.3114G>C (p.Leu1038=)
|
|
|
|
NM_000257.4(MYH7):c.3129G>A (p.Lys1043=)
|
rs2138659112
|
|
|
NM_000257.4(MYH7):c.3150A>G (p.Arg1050=)
|
|
|
|
NM_000257.4(MYH7):c.3162G>A (p.Lys1054=)
|
rs1295046089
|
|
|
NM_000257.4(MYH7):c.3165G>A (p.Leu1055=)
|
rs1433185475
|
|
|
NM_000257.4(MYH7):c.3168G>A (p.Glu1056=)
|
rs747198710
|
|
|
NM_000257.4(MYH7):c.3177G>T (p.Leu1059=)
|
rs746453011
|
|
|
NM_000257.4(MYH7):c.3189G>A (p.Gln1063=)
|
rs779291256
|
|
|
NM_000257.4(MYH7):c.3192G>A (p.Glu1064=)
|
|
|
|
NM_000257.4(MYH7):c.3204C>T (p.Asp1068=)
|
|
|
|
NM_000257.4(MYH7):c.3219G>A (p.Lys1073=)
|
rs2138658751
|
|
|
NM_000257.4(MYH7):c.3237G>C (p.Arg1079=)
|
rs1272236852
|
|
|
NM_000257.4(MYH7):c.3245+9T>C
|
|
|
|
NM_000257.4(MYH7):c.3245+9T>G
|
|
|
|
NM_000257.4(MYH7):c.3246-11C>T
|
|
|
|
NM_000257.4(MYH7):c.3246-8C>T
|
rs1555337224
|
|
|
NM_000257.4(MYH7):c.3267T>G (p.Ala1089=)
|
rs1456297955
|
|
|
NM_000257.4(MYH7):c.3312G>C (p.Leu1104=)
|
rs2138656172
|
|
|
NM_000257.4(MYH7):c.3324C>G (p.Leu1108=)
|
rs933857323
|
|
|
NM_000257.4(MYH7):c.3324C>T (p.Leu1108=)
|
rs933857323
|
|
|
NM_000257.4(MYH7):c.3336+19C>A
|
|
|
|
NM_000257.4(MYH7):c.3336+8C>G
|
|
|
|
NM_000257.4(MYH7):c.3336+8C>T
|
|
|
|
NM_000257.4(MYH7):c.3336+9T>A
|
|
|
|
NM_000257.4(MYH7):c.3337-10G>C
|
|
|
|
NM_000257.4(MYH7):c.3337-5_3337-4insT
|
rs779144252
|
|
|
NM_000257.4(MYH7):c.3337-8C>T
|
rs1595078617
|
|
|
NM_000257.4(MYH7):c.3354G>T (p.Leu1118=)
|
rs2138654651
|
|
|
NM_000257.4(MYH7):c.3364C>T (p.Leu1122=)
|
rs2138654631
|
|
|
NM_000257.4(MYH7):c.3396G>A (p.Val1132=)
|
|
|
|
NM_000257.4(MYH7):c.3408C>A (p.Arg1136=)
|
|
|
|
NM_000257.4(MYH7):c.342C>T (p.Ile114=)
|
|
|
|
NM_000257.4(MYH7):c.3438C>T (p.Ile1146=)
|
rs876657519
|
|
|
NM_000257.4(MYH7):c.3447G>C (p.Arg1149=)
|
|
|
|
NM_000257.4(MYH7):c.345+11C>G
|
|
|
|
NM_000257.4(MYH7):c.345+12A>T
|
|
|
|
NM_000257.4(MYH7):c.345+14C>G
|
|
|
|
NM_000257.4(MYH7):c.3456G>A (p.Glu1152=)
|
rs2138654334
|
|
|
NM_000257.4(MYH7):c.346-14T>C
|
|
|
|
NM_000257.4(MYH7):c.346-16C>T
|
|
|
|
NM_000257.4(MYH7):c.346-17T>C
|
rs887808676
|
|
|
NM_000257.4(MYH7):c.346-4C>G
|
rs1470520864
|
|
|
NM_000257.4(MYH7):c.346-5C>T
|
rs1893002770
|
|
|
NM_000257.4(MYH7):c.3474C>G (p.Ser1158=)
|
rs587780395
|
|
|
NM_000257.4(MYH7):c.3483C>T (p.Ile1161=)
|
|
|
|
NM_000257.4(MYH7):c.3495G>A (p.Lys1165=)
|
|
|
|
NM_000257.4(MYH7):c.3501C>T (p.Arg1167=)
|
rs1366017170
|
|
|
NM_000257.4(MYH7):c.3504G>A (p.Glu1168=)
|
|
|
|
NM_000257.4(MYH7):c.3507C>T (p.Ala1169=)
|
|
|
|
NM_000257.4(MYH7):c.3523C>A (p.Arg1175=)
|
rs566368210
|
|
|
NM_000257.4(MYH7):c.3546G>A (p.Thr1182=)
|
rs2138654015
|
|
|
NM_000257.4(MYH7):c.354G>C (p.Ser118=)
|
rs368925624
|
|
|
NM_000257.4(MYH7):c.3555C>T (p.His1185=)
|
rs1387218063
|
|
|
NM_000257.4(MYH7):c.3567C>G (p.Ala1189=)
|
rs1165812799
|
|
|
NM_000257.4(MYH7):c.3570G>C (p.Ala1190=)
|
rs745582917
|
|
|
NM_000257.4(MYH7):c.3576G>A (p.Leu1192=)
|
rs770653507
|
|
|
NM_000257.4(MYH7):c.3597C>T (p.Ser1199=)
|
|
|
|
NM_000257.4(MYH7):c.3603C>T (p.Ala1201=)
|
rs201576345
|
|
|
NM_000257.4(MYH7):c.3606G>A (p.Glu1202=)
|
rs780161213
|
|
|
NM_000257.4(MYH7):c.3607C>T (p.Leu1203=)
|
|
|
|
NM_000257.4(MYH7):c.3609G>T (p.Leu1203=)
|
rs1555337108
|
|
|
NM_000257.4(MYH7):c.3612C>T (p.Gly1204=)
|
rs786204378
|
|
|
NM_000257.4(MYH7):c.3618G>A (p.Gln1206=)
|
rs1555337104
|
|
|
NM_000257.4(MYH7):c.3621C>A (p.Ile1207=)
|
rs529700838
|
|
|
NM_000257.4(MYH7):c.3621C>T (p.Ile1207=)
|
rs529700838
|
|
|
NM_000257.4(MYH7):c.3627C>T (p.Asn1209=)
|
|
|
|
NM_000257.4(MYH7):c.3636G>A (p.Arg1212=)
|
rs2138653606
|
|
|
NM_000257.4(MYH7):c.3639G>A (p.Val1213=)
|
rs1238904908
|
|
|
NM_000257.4(MYH7):c.3645G>A (p.Gln1215=)
|
rs863225096
|
|
|
NM_000257.4(MYH7):c.3648G>A (p.Lys1216=)
|
rs1555337101
|
|
|
NM_000257.4(MYH7):c.3651G>A (p.Leu1217=)
|
|
|
|
NM_000257.4(MYH7):c.3684G>A (p.Leu1228=)
|
rs1595078072
|
|
|
NM_000257.4(MYH7):c.3687T>C (p.Asp1229=)
|
rs2138653446
|
|
|
NM_000257.4(MYH7):c.3726+13C>A
|
rs374300894
|
|
|
NM_000257.4(MYH7):c.3726+13C>G
|
|
|
|
NM_000257.4(MYH7):c.3726+14G>A
|
|
|
|
NM_000257.4(MYH7):c.3726+14G>C
|
rs370332213
|
|
|
NM_000257.4(MYH7):c.3727-15T>A
|
|
|
|
NM_000257.4(MYH7):c.3727-4T>G
|
rs2138652669
|
|
|
NM_000257.4(MYH7):c.3727-5C>A
|
rs1160062159
|
|
|
NM_000257.4(MYH7):c.3727-8C>T
|
rs1892384390
|
|
|
NM_000257.4(MYH7):c.3738G>A (p.Glu1246=)
|
|
|
|
NM_000257.4(MYH7):c.3754T>C (p.Leu1252=)
|
rs397516193
|
|
|
NM_000257.4(MYH7):c.3762C>T (p.Asp1254=)
|
|
|
|
NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser)
|
rs574005462
|
|
|
NM_000257.4(MYH7):c.3789G>A (p.Ala1263=)
|
rs137918672
|
|
|
NM_000257.4(MYH7):c.3789G>T (p.Ala1263=)
|
rs137918672
|
|
|
NM_000257.4(MYH7):c.3795G>A (p.Glu1265=)
|
rs2138652428
|
|
|
NM_000257.4(MYH7):c.3798C>G (p.Thr1266=)
|
|
|
|
NM_000257.4(MYH7):c.3801G>A (p.Gln1267=)
|
rs200000290
|
|
|
NM_000257.4(MYH7):c.3807T>C (p.Ser1269=)
|
rs1892378651
|
|
|
NM_000257.4(MYH7):c.3810C>A (p.Val1270=)
|
|
|
|
NM_000257.4(MYH7):c.3819C>T (p.Leu1273=)
|
rs2138652311
|
|
|
NM_000257.4(MYH7):c.3829C>A (p.Arg1277=)
|
rs727503248
|
|
|
NM_000257.4(MYH7):c.3846C>T (p.Thr1282=)
|
rs948996596
|
|
|
NM_000257.4(MYH7):c.3853+10G>A
|
|
|
|
NM_000257.4(MYH7):c.3853+11A>C
|
|
|
|
NM_000257.4(MYH7):c.3853+12G>A
|
rs2138652094
|
|
|
NM_000257.4(MYH7):c.3853+14A>C
|
|
|
|
NM_000257.4(MYH7):c.3853+16G>A
|
|
|
|
NM_000257.4(MYH7):c.3853+16G>T
|
rs755724326
|
|
|
NM_000257.4(MYH7):c.3853+17G>A
|
|
|
|
NM_000257.4(MYH7):c.3853+19C>T
|
|
|
|
NM_000257.4(MYH7):c.3853+9A>G
|
|
|
|
NM_000257.4(MYH7):c.3854-10G>A
|
rs755774024
|
|
|
NM_000257.4(MYH7):c.3854-12G>A
|
|
|
|
NM_000257.4(MYH7):c.3854-14T>C
|
|
|
|
NM_000257.4(MYH7):c.3861G>A (p.Leu1287=)
|
rs150292548
|
|
|
NM_000257.4(MYH7):c.3885G>A (p.Glu1295=)
|
rs2138651496
|
|
|
NM_000257.4(MYH7):c.3888A>G (p.Ala1296=)
|
|
|
|
NM_000257.4(MYH7):c.3891G>A (p.Leu1297=)
|
rs2138651461
|
|
|
NM_000257.4(MYH7):c.3894C>T (p.Ile1298=)
|
rs754009767
|
|
|
NM_000257.4(MYH7):c.3897C>T (p.Ser1299=)
|
rs2138651439
|
|
|
NM_000257.4(MYH7):c.3900G>A (p.Gln1300=)
|
rs2138651429
|
|
|
NM_000257.4(MYH7):c.3903G>C (p.Leu1301=)
|
|
|
|
NM_000257.4(MYH7):c.3906C>A (p.Thr1302=)
|
rs2138651402
|
|
|
NM_000257.4(MYH7):c.3924C>T (p.Tyr1308=)
|
rs1471262207
|
|
|
NM_000257.4(MYH7):c.3927C>A (p.Thr1309=)
|
rs1430666956
|
|
|
NM_000257.4(MYH7):c.3927C>G (p.Thr1309=)
|
|
|
|
NM_000257.4(MYH7):c.3939G>A (p.Glu1313=)
|
rs772128107
|
|
|
NM_000257.4(MYH7):c.393G>T (p.Leu131=)
|
rs2138684745
|
|
|
NM_000257.4(MYH7):c.3942C>T (p.Asp1314=)
|
rs921429381
|
|
|
NM_000257.4(MYH7):c.3951G>A (p.Arg1317=)
|
rs2138651225
|
|
|
NM_000257.4(MYH7):c.3954G>A (p.Gln1318=)
|
rs1566526957
|
|
|
NM_000257.4(MYH7):c.3963G>A (p.Glu1321=)
|
rs2138651185
|
|
|
NM_000257.4(MYH7):c.396G>A (p.Pro132=)
|
rs138932714
|
|
|
NM_000257.4(MYH7):c.3972+11G>C
|
|
|
|
NM_000257.4(MYH7):c.3972+7G>A
|
rs777325544
|
|
|
NM_000257.4(MYH7):c.3972+8C>T
|
rs2138651138
|
|
|
NM_000257.4(MYH7):c.3973-14C>T
|
|
|
|
NM_000257.4(MYH7):c.3973-14_3973-13dup
|
|
|
|
NM_000257.4(MYH7):c.3973-19G>C
|
|
|
|
NM_000257.4(MYH7):c.3973-20T>G
|
|
|
|
NM_000257.4(MYH7):c.3973-5C>T
|
rs2138649276
|
|
|
NM_000257.4(MYH7):c.3973-6C>A
|
|
|
|
NM_000257.4(MYH7):c.3973-6C>T
|
rs1383622656
|
|
|
NM_000257.4(MYH7):c.3973-9C>A
|
|
|
|
NM_000257.4(MYH7):c.3973-9_3973-8dup
|
rs762851416
|
|
|
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys)
|
rs141764279
|
|
|
NM_000257.4(MYH7):c.3981C>T (p.Asn1327=)
|
rs141764279
|
|
|
NM_000257.4(MYH7):c.3987G>C (p.Leu1329=)
|
rs757103246
|
|
|
NM_000257.4(MYH7):c.39C>T (p.Ala13=)
|
|
|
|
NM_000257.4(MYH7):c.4005G>C (p.Ser1335=)
|
|
|
|
NM_000257.4(MYH7):c.4026G>A (p.Leu1342=)
|
|
|
|
NM_000257.4(MYH7):c.4029G>A (p.Leu1343=)
|
|
|
|
NM_000257.4(MYH7):c.4029G>T (p.Leu1343=)
|
|
|
|
NM_000257.4(MYH7):c.4030C>A (p.Arg1344=)
|
rs727504352
|
|
|
NM_000257.4(MYH7):c.4038G>A (p.Gln1346=)
|
rs1595076323
|
|
|
NM_000257.4(MYH7):c.4056G>A (p.Glu1352=)
|
|
|
|
NM_000257.4(MYH7):c.4071G>T (p.Leu1357=)
|
|
|
|
NM_000257.4(MYH7):c.4110G>A (p.Gln1370=)
|
rs1361779196
|
|
|
NM_000257.4(MYH7):c.4119C>A (p.Thr1373=)
|
|
|
|
NM_000257.4(MYH7):c.411G>A (p.Glu137=)
|
rs61977674
|
|
|
NM_000257.4(MYH7):c.4122G>A (p.Lys1374=)
|
rs1892310220
|
|
|
NM_000257.4(MYH7):c.4131G>A (p.Thr1377=)
|
rs369420587
|
|
|
NM_000257.4(MYH7):c.4131G>T (p.Thr1377=)
|
rs369420587
|
|
|
NM_000257.4(MYH7):c.4137C>T (p.Ala1379=)
|
rs749048810
|
|
|
NM_000257.4(MYH7):c.4144C>A (p.Arg1382=)
|
rs730880910
|
|
|
NM_000257.4(MYH7):c.4164G>A (p.Glu1388=)
|
|
|
|
NM_000257.4(MYH7):c.4169+12G>A
|
|
|
|
NM_000257.4(MYH7):c.4169+7T>C
|
rs1362556791
|
|
|
NM_000257.4(MYH7):c.4170-11C>A
|
|
|
|
NM_000257.4(MYH7):c.4170-16A>T
|
|
|
|
NM_000257.4(MYH7):c.4170-19G>T
|
|
|
|
NM_000257.4(MYH7):c.4170-4G>T
|
|
|
|
NM_000257.4(MYH7):c.4170-7T>C
|
|
|
|
NM_000257.4(MYH7):c.4170-8C>G
|
rs199632504
|
|
|
NM_000257.4(MYH7):c.4170G>A (p.Lys1390=)
|
rs1892281118
|
|
|
NM_000257.4(MYH7):c.4186C>A (p.Arg1396=)
|
rs730880793
|
|
|
NM_000257.4(MYH7):c.4188G>T (p.Arg1396=)
|
rs200852418
|
|
|
NM_000257.4(MYH7):c.4194G>A (p.Gln1398=)
|
|
|
|
NM_000257.4(MYH7):c.4209C>T (p.Ala1403=)
|
rs537497927
|
|
|
NM_000257.4(MYH7):c.4212G>T (p.Val1404=)
|
rs397516205
|
|
|
NM_000257.4(MYH7):c.4239G>C (p.Ser1413=)
|
rs3729821
|
|
|
NM_000257.4(MYH7):c.4251C>G (p.Thr1417=)
|
rs763934978
|
|
|
NM_000257.4(MYH7):c.4251C>T (p.Thr1417=)
|
rs763934978
|
|
|
NM_000257.4(MYH7):c.4257C>T (p.His1419=)
|
rs1555336760
|
|
|
NM_000257.4(MYH7):c.4258C>A (p.Arg1420=)
|
|
|
|
NM_000257.4(MYH7):c.4275C>A (p.Ile1425=)
|
rs57680382
|
|
|
NM_000257.4(MYH7):c.4275C>T (p.Ile1425=)
|
rs57680382
|
|
|
NM_000257.4(MYH7):c.4278G>A (p.Glu1426=)
|
rs763144369
|
|
|
NM_000257.4(MYH7):c.4302C>T (p.Arg1434=)
|
rs900405502
|
|
|
NM_000257.4(MYH7):c.4308T>C (p.Asn1436=)
|
rs1892272545
|
|
|
NM_000257.4(MYH7):c.4311T>G (p.Ala1437=)
|
|
|
|
NM_000257.4(MYH7):c.4314T>C (p.Ala1438=)
|
rs1595075231
|
|
|
NM_000257.4(MYH7):c.4317T>C (p.Ala1439=)
|
|
|
|
NM_000257.4(MYH7):c.4320A>C (p.Ala1440=)
|
|
|
|
NM_000257.4(MYH7):c.4320A>G (p.Ala1440=)
|
|
|
|
NM_000257.4(MYH7):c.4323C>A (p.Ala1441=)
|
rs778364300
|
|
|
NM_000257.4(MYH7):c.4326G>C (p.Leu1442=)
|
|
|
|
NM_000257.4(MYH7):c.432C>A (p.Gly144=)
|
rs761090437
|
|
|
NM_000257.4(MYH7):c.4332G>A (p.Lys1444=)
|
rs1064797183
|
|
|
NM_000257.4(MYH7):c.4335G>A (p.Lys1445=)
|
rs1892271096
|
|
|
NM_000257.4(MYH7):c.4353+12G>A
|
|
|
|
NM_000257.4(MYH7):c.4353+16G>A
|
|
|
|
NM_000257.4(MYH7):c.4353+18G>T
|
rs2854800
|
|
|
NM_000257.4(MYH7):c.4353+20_4353+29del
|
|
|
|
NM_000257.4(MYH7):c.4353+20del
|
|
|
|
NM_000257.4(MYH7):c.4353+7C>T
|
|
|
|
NM_000257.4(MYH7):c.4354-10C>G
|
rs543141581
|
|
|
NM_000257.4(MYH7):c.4354-10C>T
|
rs543141581
|
|
|
NM_000257.4(MYH7):c.4354-4G>A
|
|
|
|
NM_000257.4(MYH7):c.4354-7C>T
|
rs370093487
|
|
|
NM_000257.4(MYH7):c.4362C>T (p.Ala1454=)
|
rs727505281
|
|
|
NM_000257.4(MYH7):c.4377G>A (p.Lys1459=)
|
rs201307101
|
|
|
NM_000257.4(MYH7):c.4380T>C (p.Tyr1460=)
|
|
|
|
NM_000257.4(MYH7):c.4389G>T (p.Ser1463=)
|
rs781203524
|
|
|
NM_000257.4(MYH7):c.4392G>A (p.Gln1464=)
|
rs1306601682
|
|
|
NM_000257.4(MYH7):c.4395G>A (p.Ser1465=)
|
rs397516213
|
|
|
NM_000257.4(MYH7):c.4395G>T (p.Ser1465=)
|
rs397516213
|
|
|
NM_000257.4(MYH7):c.4404G>A (p.Glu1468=)
|
|
|
|
NM_000257.4(MYH7):c.4407C>T (p.Ser1469=)
|
rs1428752523
|
|
|
NM_000257.4(MYH7):c.4410G>T (p.Ser1470=)
|
|
|
|
NM_000257.4(MYH7):c.4419G>A (p.Glu1473=)
|
rs1892255907
|
|
|
NM_000257.4(MYH7):c.4461C>G (p.Ala1487=)
|
rs2138645345
|
|
|
NM_000257.4(MYH7):c.4464T>C (p.Tyr1488=)
|
|
|
|
NM_000257.4(MYH7):c.4476G>A (p.Leu1492=)
|
|
|
|
NM_000257.4(MYH7):c.447G>A (p.Glu149=)
|
rs1595090575
|
|
|
NM_000257.4(MYH7):c.4491C>T (p.Thr1497=)
|
|
|
|
NM_000257.4(MYH7):c.4498C>A (p.Arg1500=)
|
rs45544633
|
|
|
NM_000257.4(MYH7):c.4515G>A (p.Leu1505=)
|
rs397516219
|
|
|
NM_000257.4(MYH7):c.4515G>T (p.Leu1505=)
|
rs397516219
|
|
|
NM_000257.4(MYH7):c.4519+12G>T
|
|
|
|
NM_000257.4(MYH7):c.4519+16A>C
|
|
|
|
NM_000257.4(MYH7):c.4519+8G>A
|
rs2138645069
|
|
|
NM_000257.4(MYH7):c.4519+9G>C
|
rs2138645065
|
|
|
NM_000257.4(MYH7):c.4520-12T>C
|
|
|
|
NM_000257.4(MYH7):c.4520-16C>T
|
|
|
|
NM_000257.4(MYH7):c.4520-17C>T
|
|
|
|
NM_000257.4(MYH7):c.4520-4A>G
|
|
|
|
NM_000257.4(MYH7):c.4520-5C>T
|
|
|
|
NM_000257.4(MYH7):c.4524G>A (p.Glu1508=)
|
|
|
|
NM_000257.4(MYH7):c.4536G>A (p.Leu1512=)
|
rs780259714
|
|
|
NM_000257.4(MYH7):c.4542G>A (p.Glu1514=)
|
rs750753882
|
|
|
NM_000257.4(MYH7):c.4545G>A (p.Gln1515=)
|
rs765697662
|
|
|
NM_000257.4(MYH7):c.4551T>C (p.Gly1517=)
|
rs1892238660
|
|
|
NM_000257.4(MYH7):c.4581G>A (p.Glu1527=)
|
rs2138644369
|
|
|
NM_000257.4(MYH7):c.4588C>A (p.Arg1530=)
|
|
|
|
NM_000257.4(MYH7):c.4593G>A (p.Lys1531=)
|
rs747037455
|
|
|
NM_000257.4(MYH7):c.45C>T (p.Tyr15=)
|
|
|
|
NM_000257.4(MYH7):c.4626A>C (p.Ser1542=)
|
|
|
|
NM_000257.4(MYH7):c.4629C>A (p.Ala1543=)
|
rs1892234964
|
|
|
NM_000257.4(MYH7):c.462C>A (p.Ile154=)
|
rs1892996559
|
|
|
NM_000257.4(MYH7):c.462C>T (p.Ile154=)
|
|
|
|
NM_000257.4(MYH7):c.4635G>A (p.Glu1545=)
|
rs1595074236
|
|
|
NM_000257.4(MYH7):c.4644+11G>C
|
|
|
|
NM_000257.4(MYH7):c.4644+15A>C
|
rs2138644080
|
|
|
NM_000257.4(MYH7):c.4644+2TG[7]
|
rs143276274
|
|
|
NM_000257.4(MYH7):c.4644+8T>C
|
|
|
|
NM_000257.4(MYH7):c.4645-10C>T
|
|
|
|
NM_000257.4(MYH7):c.4645-15C>G
|
rs756657320
|
|
|
NM_000257.4(MYH7):c.4645-15C>T
|
rs756657320
|
|
|
NM_000257.4(MYH7):c.4645-16C>T
|
rs778453839
|
|
|
NM_000257.4(MYH7):c.4645-17C>T
|
rs1555336497
|
|
|
NM_000257.4(MYH7):c.4645-18C>A
|
|
|
|
NM_000257.4(MYH7):c.4645-18C>T
|
|
|
|
NM_000257.4(MYH7):c.4647C>T (p.Ala1549=)
|
|
|
|
NM_000257.4(MYH7):c.4653G>C (p.Leu1551=)
|
|
|
|
NM_000257.4(MYH7):c.465C>T (p.Phe155=)
|
rs747935479
|
|
|
NM_000257.4(MYH7):c.4662G>A (p.Glu1554=)
|
|
|
|
NM_000257.4(MYH7):c.4665G>A (p.Glu1555=)
|
rs1892207214
|
|
|
NM_000257.4(MYH7):c.4674C>T (p.Ile1558=)
|
rs2138642581
|
|
|
NM_000257.4(MYH7):c.4677C>A (p.Leu1559=)
|
rs775491087
|
|
|
NM_000257.4(MYH7):c.4680G>C (p.Arg1560=)
|
rs771236158
|
|
|
NM_000257.4(MYH7):c.4686G>A (p.Gln1562=)
|
rs2138642484
|
|
|
NM_000257.4(MYH7):c.4704C>A (p.Ile1568=)
|
|
|
|
NM_000257.4(MYH7):c.4740C>T (p.Asp1580=)
|
rs201469051
|
|
|
NM_000257.4(MYH7):c.474C>G (p.Ser158=)
|
rs200444892
|
|
|
NM_000257.4(MYH7):c.4767C>T (p.Asn1589=)
|
|
|
|
NM_000257.4(MYH7):c.4770C>T (p.His1590=)
|
|
|
|
NM_000257.4(MYH7):c.4788G>T (p.Ser1596=)
|
|
|
|
NM_000257.4(MYH7):c.4800C>T (p.Ser1600=)
|
rs1057521761
|
|
|
NM_000257.4(MYH7):c.4809A>G (p.Ala1603=)
|
rs1595073441
|
|
|
NM_000257.4(MYH7):c.4815A>T (p.Thr1605=)
|
rs202026847
|
|
|
NM_000257.4(MYH7):c.4818C>A (p.Arg1606=)
|
|
|
|
NM_000257.4(MYH7):c.483C>T (p.Ala161=)
|
rs2138684437
|
|
|
NM_000257.4(MYH7):c.4845G>A (p.Lys1615=)
|
rs1060501446
|
|
|
NM_000257.4(MYH7):c.4857A>G (p.Glu1619=)
|
rs1595073320
|
|
|
NM_000257.4(MYH7):c.4860A>G (p.Gly1620=)
|
rs1595073316
|
|
|
NM_000257.4(MYH7):c.4866C>A (p.Leu1622=)
|
rs1892193216
|
|
|
NM_000257.4(MYH7):c.4866C>T (p.Leu1622=)
|
|
|
|
NM_000257.4(MYH7):c.4869T>C (p.Asn1623=)
|
rs1448315071
|
|
|
NM_000257.4(MYH7):c.4899C>T (p.Asn1633=)
|
|
|
|
NM_000257.4(MYH7):c.492C>T (p.Tyr164=)
|
rs2138684408
|
|
|
NM_000257.4(MYH7):c.4945T>C (p.Leu1649=)
|
|
|
|
NM_000257.4(MYH7):c.4953+11del
|
|
|
|
NM_000257.4(MYH7):c.4953+13A>G
|
|
|
|
NM_000257.4(MYH7):c.4953+13A>T
|
rs373509029
|
|
|
NM_000257.4(MYH7):c.4953+15G>T
|
|
|
|
NM_000257.4(MYH7):c.4953+20T>A
|
rs1892186652
|
|
|
NM_000257.4(MYH7):c.4953+8C>T
|
rs955638282
|
|
|
NM_000257.4(MYH7):c.4953+9C>G
|
rs2138641444
|
|
|
NM_000257.4(MYH7):c.4954-12C>T
|
|
|
|
NM_000257.4(MYH7):c.4954-14C>T
|
rs727505070
|
|
|
NM_000257.4(MYH7):c.4954-16C>G
|
|
|
|
NM_000257.4(MYH7):c.4954-19C>A
|
rs535525636
|
|
|
NM_000257.4(MYH7):c.4954-19C>G
|
|
|
|
NM_000257.4(MYH7):c.4954-4T>C
|
|
|
|
NM_000257.4(MYH7):c.4954-5C>T
|
rs962469283
|
|
|
NM_000257.4(MYH7):c.4954-6C>G
|
|
|
|
NM_000257.4(MYH7):c.4954-8A>C
|
|
|
|
NM_000257.4(MYH7):c.4954-9G>C
|
rs1892178883
|
|
|
NM_000257.4(MYH7):c.4980A>C (p.Ala1660=)
|
rs112943492
|
|
|
NM_000257.4(MYH7):c.4980A>G (p.Ala1660=)
|
rs112943492
|
|
|
NM_000257.4(MYH7):c.5013C>T (p.Ile1671=)
|
rs779978846
|
|
|
NM_000257.4(MYH7):c.5016C>G (p.Ala1672=)
|
|
|
|
NM_000257.4(MYH7):c.502+10C>G
|
|
|
|
NM_000257.4(MYH7):c.502+12T>C
|
|
|
|
NM_000257.4(MYH7):c.502+9C>T
|
|
|
|
NM_000257.4(MYH7):c.503-14C>T
|
|
|
|
NM_000257.4(MYH7):c.503-4A>C
|
rs376022200
|
|
|
NM_000257.4(MYH7):c.503-6C>T
|
rs2138684052
|
|
|
NM_000257.4(MYH7):c.503-9T>C
|
rs969619157
|
|
|
NM_000257.4(MYH7):c.5061G>A (p.Glu1687=)
|
rs1410160839
|
|
|
NM_000257.4(MYH7):c.5064G>A (p.Leu1688=)
|
|
|
|
NM_000257.4(MYH7):c.5067T>G (p.Arg1689=)
|
rs1595072723
|
|
|
NM_000257.4(MYH7):c.5070C>T (p.Ala1690=)
|
rs764844610
|
|
|
NM_000257.4(MYH7):c.5079G>A (p.Glu1693=)
|
rs570732103
|
|
|
NM_000257.4(MYH7):c.5089C>A (p.Arg1697=)
|
|
|
|
NM_000257.4(MYH7):c.5091G>A (p.Arg1697=)
|
|
|
|
NM_000257.4(MYH7):c.5097G>C (p.Arg1699=)
|
rs2138640249
|
|
|
NM_000257.4(MYH7):c.5118G>A (p.Leu1706=)
|
rs1892166054
|
|
|
NM_000257.4(MYH7):c.5124G>A (p.Glu1708=)
|
rs869225593
|
|
|
NM_000257.4(MYH7):c.5130T>C (p.Ser1710=)
|
rs771954434
|
|
|
NM_000257.4(MYH7):c.5146C>T (p.Leu1716=)
|
rs2138640052
|
|
|
NM_000257.4(MYH7):c.5157+10T>A
|
rs1208157711
|
|
|
NM_000257.4(MYH7):c.5157+11C>T
|
|
|
|
NM_000257.4(MYH7):c.5157+12C>T
|
rs1026329862
|
|
|
NM_000257.4(MYH7):c.5157+15T>C
|
|
|
|
NM_000257.4(MYH7):c.5157+8G>T
|
rs1555336258
|
|
|
NM_000257.4(MYH7):c.5158-10C>T
|
|
|
|
NM_000257.4(MYH7):c.5158-12C>A
|
rs1020453843
|
|
|
NM_000257.4(MYH7):c.5169C>G (p.Leu1723=)
|
rs1286161095
|
|
|
NM_000257.4(MYH7):c.519C>T (p.Ser173=)
|
rs1057521338
|
|
|
NM_000257.4(MYH7):c.5202G>C (p.Leu1734=)
|
|
|
|
NM_000257.4(MYH7):c.5205C>G (p.Ser1735=)
|
|
|
|
NM_000257.4(MYH7):c.5205C>T (p.Ser1735=)
|
rs2138639513
|
|
|
NM_000257.4(MYH7):c.5208G>A (p.Gln1736=)
|
|
|
|
NM_000257.4(MYH7):c.522C>T (p.Ile174=)
|
|
|
|
NM_000257.4(MYH7):c.5262G>A (p.Lys1754=)
|
|
|
|
NM_000257.4(MYH7):c.5265C>A (p.Ala1755=)
|
rs2138639281
|
|
|
NM_000257.4(MYH7):c.5283+13C>T
|
rs2138639162
|
|
|
NM_000257.4(MYH7):c.5283+15C>T
|
rs1052787042
|
|
|
NM_000257.4(MYH7):c.5283+18C>G
|
|
|
|
NM_000257.4(MYH7):c.5283+20G>A
|
|
|
|
NM_000257.4(MYH7):c.5283+9C>G
|
rs1595072148
|
|
|
NM_000257.4(MYH7):c.5284-16T>A
|
|
|
|
NM_000257.4(MYH7):c.5284-7C>A
|
|
|
|
NM_000257.4(MYH7):c.530+13G>A
|
|
|
|
NM_000257.4(MYH7):c.530+20T>C
|
|
|
|
NM_000257.4(MYH7):c.530+8T>C
|
rs2138683891
|
|
|
NM_000257.4(MYH7):c.5304G>A (p.Glu1768=)
|
|
|
|
NM_000257.4(MYH7):c.531-12C>G
|
|
|
|
NM_000257.4(MYH7):c.531-14C>T
|
|
|
|
NM_000257.4(MYH7):c.531-20A>G
|
|
|
|
NM_000257.4(MYH7):c.5325C>T (p.Thr1775=)
|
|
|
|
NM_000257.4(MYH7):c.5349G>A (p.Lys1783=)
|
rs2138638607
|
|
|
NM_000257.4(MYH7):c.5355C>T (p.Asn1785=)
|
|
|
|
NM_000257.4(MYH7):c.5367C>T (p.Thr1789=)
|
rs1595071879
|
|
|
NM_000257.4(MYH7):c.5394C>T (p.Asp1798=)
|
rs777053791
|
|
|
NM_000257.4(MYH7):c.5400C>G (p.Ala1800=)
|
rs556490774
|
|
|
NM_000257.4(MYH7):c.5400C>T (p.Ala1800=)
|
rs556490774
|
|
|
NM_000257.4(MYH7):c.540C>T (p.Ser180=)
|
rs369490861
|
|
|
NM_000257.4(MYH7):c.5421C>A (p.Gly1807=)
|
rs142844109
|
|
|
NM_000257.4(MYH7):c.5421C>T (p.Gly1807=)
|
rs142844109
|
|
|
NM_000257.4(MYH7):c.5451G>A (p.Ala1817=)
|
rs138682220
|
|
|
NM_000257.4(MYH7):c.5451G>C (p.Ala1817=)
|
rs138682220
|
|
|
NM_000257.4(MYH7):c.549G>A (p.Gly183=)
|
rs1595089758
|
|
|
NM_000257.4(MYH7):c.5514G>A (p.Lys1838=)
|
|
|
|
NM_000257.4(MYH7):c.5533C>A (p.Arg1845=)
|
rs28933098
|
|
|
NM_000257.4(MYH7):c.5559+10G>A
|
rs1355211775
|
|
|
NM_000257.4(MYH7):c.5559+13G>A
|
|
|
|
NM_000257.4(MYH7):c.5559+19C>A
|
|
|
|
NM_000257.4(MYH7):c.555A>G (p.Thr185=)
|
rs771723367
|
|
|
NM_000257.4(MYH7):c.5560-17T>G
|
|
|
|
NM_000257.4(MYH7):c.5560-19C>A
|
|
|
|
NM_000257.4(MYH7):c.5560-4C>G
|
|
|
|
NM_000257.4(MYH7):c.5560-7C>A
|
rs778224065
|
|
|
NM_000257.4(MYH7):c.5560-8G>A
|
rs1421700682
|
|
|
NM_000257.4(MYH7):c.5589G>A (p.Arg1863=)
|
rs768534661
|
|
|
NM_000257.4(MYH7):c.5589G>C (p.Arg1863=)
|
|
|
|
NM_000257.4(MYH7):c.5589G>T (p.Arg1863=)
|
rs768534661
|
|
|
NM_000257.4(MYH7):c.5592G>T (p.Leu1864=)
|
|
|
|
NM_000257.4(MYH7):c.5598C>T (p.Asp1866=)
|
|
|
|
NM_000257.4(MYH7):c.5601G>A (p.Leu1867=)
|
rs1060504233
|
|
|
NM_000257.4(MYH7):c.5607C>T (p.Asp1869=)
|
|
|
|
NM_000257.4(MYH7):c.5610G>A (p.Lys1870=)
|
rs1892082024
|
|
|
NM_000257.4(MYH7):c.5613G>T (p.Leu1871=)
|
rs2138635919
|
|
|
NM_000257.4(MYH7):c.5625C>A (p.Val1875=)
|
rs1595070720
|
|
|
NM_000257.4(MYH7):c.5646C>G (p.Ala1882=)
|
|
|
|
NM_000257.4(MYH7):c.5652G>A (p.Glu1884=)
|
|
|
|
NM_000257.4(MYH7):c.5655+17G>A
|
|
|
|
NM_000257.4(MYH7):c.5655+18G>A
|
|
|
|
NM_000257.4(MYH7):c.5655+20A>C
|
|
|
|
NM_000257.4(MYH7):c.5655+9C>A
|
rs373707937
|
|
|
NM_000257.4(MYH7):c.5656-10C>T
|
rs199651194
|
|
|
NM_000257.4(MYH7):c.5656-19A>G
|
|
|
|
NM_000257.4(MYH7):c.5656-20C>T
|
|
|
|
NM_000257.4(MYH7):c.5656-8dup
|
rs886042307
|
|
|
NM_000257.4(MYH7):c.5676C>T (p.Asn1892=)
|
rs1595070496
|
|
|
NM_000257.4(MYH7):c.5709G>A (p.Leu1903=)
|
rs988052048
|
|
|
NM_000257.4(MYH7):c.5739C>T (p.Ala1913=)
|
rs200921000
|
|
|
NM_000257.4(MYH7):c.5760G>T (p.Leu1920=)
|
rs2138635120
|
|
|
NM_000257.4(MYH7):c.5781T>C (p.Ile1927=)
|
rs2138635041
|
|
|
NM_000257.4(MYH7):c.5790+10T>C
|
rs546582990
|
|
|
NM_000257.4(MYH7):c.5790+11C>G
|
rs2138634956
|
|
|
NM_000257.4(MYH7):c.5790+15T>C
|
|
|
|
NM_000257.4(MYH7):c.5790+16G>A
|
|
|
|
NM_000257.4(MYH7):c.5790+9C>G
|
rs1057521992
|
|
|
NM_000257.4(MYH7):c.5790+9C>T
|
rs1057521992
|
|
|
NM_000257.4(MYH7):c.5791-10_5791-6dup
|
|
|
|
NM_000257.4(MYH7):c.5791-19C>T
|
|
|
|
NM_000257.4(MYH7):c.5793C>T (p.Gly1931=)
|
rs148420672
|
|
|
NM_000257.4(MYH7):c.5802G>A (p.Glu1934=)
|
rs1892028656
|
|
|
NM_000257.4(MYH7):c.582C>T (p.Tyr194=)
|
rs1892956881
|
|
|
NM_000257.4(MYH7):c.627G>A (p.Gln209=)
|
rs955983170
|
|
|
NM_000257.4(MYH7):c.639+12G>T
|
|
|
|
NM_000257.4(MYH7):c.639+20A>G
|
rs763443866
|
|
|
NM_000257.4(MYH7):c.639+9G>A
|
rs373301620
|
|
|
NM_000257.4(MYH7):c.639+9G>T
|
|
|
|
NM_000257.4(MYH7):c.640-10G>A
|
|
|
|
NM_000257.4(MYH7):c.651G>A (p.Glu217=)
|
rs746214526
|
|
|
NM_000257.4(MYH7):c.660C>T (p.Ile220=)
|
rs1277105647
|
|
|
NM_000257.4(MYH7):c.666G>A (p.Gln222=)
|
rs1489868206
|
|
|
NM_000257.4(MYH7):c.675T>C (p.Pro225=)
|
rs1219883935
|
|
|
NM_000257.4(MYH7):c.675T>G (p.Pro225=)
|
rs1219883935
|
|
|
NM_000257.4(MYH7):c.678T>C (p.Ala226=)
|
rs1595089480
|
|
|
NM_000257.4(MYH7):c.67C>A (p.Arg23=)
|
|
|
|
NM_000257.4(MYH7):c.684G>A (p.Glu228=)
|
rs1273139090
|
|
|
NM_000257.4(MYH7):c.687C>A (p.Ala229=)
|
|
|
|
NM_000257.4(MYH7):c.696T>C (p.Asn232=)
|
rs1555338666
|
|
|
NM_000257.4(MYH7):c.702G>A (p.Lys234=)
|
|
|
|
NM_000257.4(MYH7):c.705C>G (p.Thr235=)
|
|
|
|
NM_000257.4(MYH7):c.732+17C>A
|
|
|
|
NM_000257.4(MYH7):c.732+20G>A
|
|
|
|
NM_000257.4(MYH7):c.733-16del
|
rs786204366
|
|
|
NM_000257.4(MYH7):c.733-17C>A
|
|
|
|
NM_000257.4(MYH7):c.733-17C>T
|
|
|
|
NM_000257.4(MYH7):c.733-19C>T
|
|
|
|
NM_000257.4(MYH7):c.735G>A (p.Gly245=)
|
|
|
|
NM_000257.4(MYH7):c.745C>A (p.Arg249=)
|
rs730880852
|
|
|
NM_000257.4(MYH7):c.753T>C (p.His251=)
|
|
|
|
NM_000257.4(MYH7):c.768A>G (p.Gly256=)
|
rs1057522662
|
|
|
NM_000257.4(MYH7):c.78G>T (p.Ala26=)
|
rs746119986
|
|
|
NM_000257.4(MYH7):c.796+11T>G
|
|
|
|
NM_000257.4(MYH7):c.796+18G>A
|
rs1892931244
|
|
|
NM_000257.4(MYH7):c.796+20T>C
|
|
|
|
NM_000257.4(MYH7):c.796+8C>G
|
|
|
|
NM_000257.4(MYH7):c.796+9C>T
|
|
|
|
NM_000257.4(MYH7):c.797-10C>G
|
|
|
|
NM_000257.4(MYH7):c.797-10C>T
|
|
|
|
NM_000257.4(MYH7):c.797-19_797-17del
|
rs372245426
|
|
|
NM_000257.4(MYH7):c.797-4A>G
|
|
|
|
NM_000257.4(MYH7):c.797-8G>A
|
|
|
|
NM_000257.4(MYH7):c.797-8G>C
|
|
|
|
NM_000257.4(MYH7):c.797-8G>T
|
rs763178268
|
|
|
NM_000257.4(MYH7):c.813C>T (p.Ser271=)
|
|
|
|
NM_000257.4(MYH7):c.828G>A (p.Gln276=)
|
rs959305953
|
|
|
NM_000257.4(MYH7):c.834A>G (p.Lys278=)
|
|
|
|
NM_000257.4(MYH7):c.837A>T (p.Ala279=)
|
rs925961600
|
|
|
NM_000257.4(MYH7):c.843A>G (p.Arg281=)
|
|
|
|
NM_000257.4(MYH7):c.84C>T (p.Thr28=)
|
rs200930470
|
|
|
NM_000257.4(MYH7):c.867C>A (p.Ile289=)
|
rs1490031800
|
|
|
NM_000257.4(MYH7):c.895+11G>C
|
|
|
|
NM_000257.4(MYH7):c.895+12C>A
|
rs186276057
|
|
|
NM_000257.4(MYH7):c.895+12C>G
|
|
|
|
NM_000257.4(MYH7):c.895+20T>A
|
|
|
|
NM_000257.4(MYH7):c.895+9G>C
|
rs1555338571
|
|
|
NM_000257.4(MYH7):c.896-13T>C
|
|
|
|
NM_000257.4(MYH7):c.896-13dup
|
rs781117720
|
|
|
NM_000257.4(MYH7):c.896-14G>A
|
rs2138679478
|
|
|
NM_000257.4(MYH7):c.896-15T>C
|
|
|
|
NM_000257.4(MYH7):c.896-18C>T
|
|
|
|
NM_000257.4(MYH7):c.896-5C>T
|
|
|
|
NM_000257.4(MYH7):c.896-6C>T
|
|
|
|
NM_000257.4(MYH7):c.912C>A (p.Thr304=)
|
rs2138679387
|
|
|
NM_000257.4(MYH7):c.918C>T (p.Asn306=)
|
|
|
|
NM_000257.4(MYH7):c.927T>C (p.Asp309=)
|
|
|
|
NM_000257.4(MYH7):c.936C>T (p.Phe312=)
|
rs771522982
|
|
|
NM_000257.4(MYH7):c.969T>C (p.Ile323=)
|
rs730880861
|
|
|
NM_000257.4(MYH7):c.999+14G>A
|
|
|
|
NM_000257.4(MYH7):c.9T>C (p.Asp3=)
|
|
|
|
NM_000258.3(MYL3):c.105C>G (p.Val35=)
|
rs771114109
|
|
|
NM_000258.3(MYL3):c.108G>A (p.Glu36=)
|
rs2106914319
|
|
|
NM_000258.3(MYL3):c.129+16G>A
|
rs2106914252
|
|
|
NM_000258.3(MYL3):c.129+17G>T
|
rs2106914248
|
|
|
NM_000258.3(MYL3):c.129+19T>C
|
|
|
|
NM_000258.3(MYL3):c.130-12G>T
|
rs2106910597
|
|
|
NM_000258.3(MYL3):c.130-14G>A
|
|
|
|
NM_000258.3(MYL3):c.132T>C (p.Ile44=)
|
rs2106910567
|
|
|
NM_000258.3(MYL3):c.147G>A (p.Glu49=)
|
rs1004231349
|
|
|
NM_000258.3(MYL3):c.157+10G>A
|
rs2106910419
|
|
|
NM_000258.3(MYL3):c.157+9G>C
|
|
|
|
NM_000258.3(MYL3):c.158-17C>T
|
rs2106910239
|
|
|
NM_000258.3(MYL3):c.162C>T (p.Phe54=)
|
|
|
|
NM_000258.3(MYL3):c.165G>A (p.Lys55=)
|
rs397516277
|
|
|
NM_000258.3(MYL3):c.171C>G (p.Ala57=)
|
|
|
|
NM_000258.3(MYL3):c.171C>T (p.Ala57=)
|
|
|
|
NM_000258.3(MYL3):c.178C>T (p.Leu60=)
|
rs1367233580
|
|
|
NM_000258.3(MYL3):c.195C>G (p.Pro65=)
|
rs1553639934
|
|
|
NM_000258.3(MYL3):c.216C>T (p.Thr72=)
|
|
|
|
NM_000258.3(MYL3):c.252C>T (p.Gly84=)
|
|
|
|
NM_000258.3(MYL3):c.270A>G (p.Ala90=)
|
|
|
|
NM_000258.3(MYL3):c.307+16G>C
|
|
|
|
NM_000258.3(MYL3):c.307+16G>T
|
|
|
|
NM_000258.3(MYL3):c.308-16G>A
|
|
|
|
NM_000258.3(MYL3):c.308-17G>C
|
rs914051059
|
|
|
NM_000258.3(MYL3):c.308-9T>C
|
rs2106907897
|
|
|
NM_000258.3(MYL3):c.354C>G (p.Leu118=)
|
|
|
|
NM_000258.3(MYL3):c.36T>C (p.Asp12=)
|
rs138567316
|
|
|
NM_000258.3(MYL3):c.393G>A (p.Glu131=)
|
|
|
|
NM_000258.3(MYL3):c.405G>A (p.Glu135=)
|
rs1575497812
|
|
|
NM_000258.3(MYL3):c.411G>A (p.Leu137=)
|
rs2233265
|
|
|
NM_000258.3(MYL3):c.412C>A (p.Arg138=)
|
rs1471322504
|
|
|
NM_000258.3(MYL3):c.441T>C (p.Thr147=)
|
|
|
|
NM_000258.3(MYL3):c.450T>C (p.Gly150=)
|
|
|
|
NM_000258.3(MYL3):c.477G>T (p.Thr159=)
|
rs148365503
|
|
|
NM_000258.3(MYL3):c.481+10G>C
|
rs1575497732
|
|
|
NM_000258.3(MYL3):c.481+15C>T
|
rs1701966300
|
|
|
NM_000258.3(MYL3):c.481+17C>T
|
|
|
|
NM_000258.3(MYL3):c.514T>C (p.Leu172=)
|
rs1390485854
|
|
|
NM_000258.3(MYL3):c.51C>A (p.Pro17=)
|
|
|
|
NM_000258.3(MYL3):c.549C>T (p.Ile183=)
|
rs963631094
|
|
|
NM_000258.3(MYL3):c.559+16_559+31del
|
|
|
|
NM_000258.3(MYL3):c.559+20G>A
|
|
|
|
NM_000258.3(MYL3):c.560-15T>A
|
|
|
|
NM_000258.3(MYL3):c.560-7T>C
|
|
|
|
NM_000258.3(MYL3):c.60T>A (p.Ala20=)
|
|
|
|
NM_000258.3(MYL3):c.96T>A (p.Pro32=)
|
rs886058582
|
|
|
NM_000258.3(MYL3):c.96T>G (p.Pro32=)
|
rs886058582
|
|
|
NM_000258.3(MYL3):c.99G>A (p.Lys33=)
|
|
|
|
NM_000337.6(SGCD):c.105G>T (p.Leu35=)
|
rs193922392
|
|
|
NM_000337.6(SGCD):c.118C>T (p.Leu40=)
|
|
|
|
NM_000337.6(SGCD):c.147C>T (p.Asn49=)
|
rs2127716692
|
|
|
NM_000337.6(SGCD):c.159C>T (p.Thr53=)
|
|
|
|
NM_000337.6(SGCD):c.15G>A (p.Glu5=)
|
|
|
|
NM_000337.6(SGCD):c.171C>G (p.Leu57=)
|
|
|
|
NM_000337.6(SGCD):c.186C>T (p.Phe62=)
|
|
|
|
NM_000337.6(SGCD):c.189A>G (p.Thr63=)
|
|
|
|
NM_000337.6(SGCD):c.192+11C>T
|
|
|
|
NM_000337.6(SGCD):c.192+12C>T
|
|
|
|
NM_000337.6(SGCD):c.192+14T>C
|
|
|
|
NM_000337.6(SGCD):c.192+18G>T
|
|
|
|
NM_000337.6(SGCD):c.192+19G>A
|
|
|
|
NM_000337.6(SGCD):c.192+20T>G
|
|
|
|
NM_000337.6(SGCD):c.193-12G>A
|
|
|
|
NM_000337.6(SGCD):c.193-12_193-10del
|
|
|
|
NM_000337.6(SGCD):c.193-18C>G
|
|
|
|
NM_000337.6(SGCD):c.193-18C>T
|
|
|
|
NM_000337.6(SGCD):c.193-20A>G
|
|
|
|
NM_000337.6(SGCD):c.193-20A>T
|
rs778298187
|
|
|
NM_000337.6(SGCD):c.193-7_193-4dup
|
rs2127875278
|
|
|
NM_000337.6(SGCD):c.195T>C (p.Asp65=)
|
|
|
|
NM_000337.6(SGCD):c.204A>G (p.Gly68=)
|
|
|
|
NM_000337.6(SGCD):c.219A>G (p.Thr73=)
|
|
|
|
NM_000337.6(SGCD):c.234G>A (p.Lys78=)
|
|
|
|
NM_000337.6(SGCD):c.240A>G (p.Glu80=)
|
|
|
|
NM_000337.6(SGCD):c.243A>G (p.Gly81=)
|
|
|
|
NM_000337.6(SGCD):c.255C>T (p.Phe85=)
|
|
|
|
NM_000337.6(SGCD):c.267C>G (p.Leu89=)
|
|
|
|
NM_000337.6(SGCD):c.282C>A (p.Ile94=)
|
|
|
|
NM_000337.6(SGCD):c.288C>T (p.Ser96=)
|
|
|
|
NM_000337.6(SGCD):c.289C>A (p.Arg97=)
|
|
|
|
NM_000337.6(SGCD):c.294+16G>C
|
|
|
|
NM_000337.6(SGCD):c.294+20A>G
|
rs1756811866
|
|
|
NM_000337.6(SGCD):c.295-14T>C
|
|
|
|
NM_000337.6(SGCD):c.295-15A>G
|
|
|
|
NM_000337.6(SGCD):c.295-20C>G
|
rs144250417
|
|
|
NM_000337.6(SGCD):c.295-20_295-17del
|
|
|
|
NM_000337.6(SGCD):c.3+13C>G
|
|
|
|
NM_000337.6(SGCD):c.3+13C>T
|
|
|
|
NM_000337.6(SGCD):c.3+14G>C
|
rs538229806
|
|
|
NM_000337.6(SGCD):c.3+14G>T
|
rs538229806
|
|
|
NM_000337.6(SGCD):c.3+15G>A
|
|
|
|
NM_000337.6(SGCD):c.3+16del
|
|
|
|
NM_000337.6(SGCD):c.3+17A>G
|
|
|
|
NM_000337.6(SGCD):c.3+19C>G
|
rs182715924
|
|
|
NM_000337.6(SGCD):c.3+19C>T
|
rs182715924
|
|
|
NM_000337.6(SGCD):c.3+20G>T
|
|
|
|
NM_000337.6(SGCD):c.3+7A>G
|
rs1561622931
|
|
|
NM_000337.6(SGCD):c.300T>C (p.Asn100=)
|
|
|
|
NM_000337.6(SGCD):c.304C>T (p.Leu102=)
|
rs868328526
|
|
|
NM_000337.6(SGCD):c.333A>C (p.Thr111=)
|
rs886042290
|
|
|
NM_000337.6(SGCD):c.33G>A (p.Arg11=)
|
|
|
|
NM_000337.6(SGCD):c.351C>T (p.Asp117=)
|
|
|
|
NM_000337.6(SGCD):c.357T>C (p.Thr119=)
|
rs886044132
|
|
|
NM_000337.6(SGCD):c.357T>G (p.Thr119=)
|
|
|
|
NM_000337.6(SGCD):c.363G>T (p.Val121=)
|
rs1327634775
|
|
|
NM_000337.6(SGCD):c.372G>A (p.Gln124=)
|
|
|
|
NM_000337.6(SGCD):c.382+12G>A
|
|
|
|
NM_000337.6(SGCD):c.382+12del
|
|
|
|
NM_000337.6(SGCD):c.383-10T>C
|
|
|
|
NM_000337.6(SGCD):c.383-11A>C
|
|
|
|
NM_000337.6(SGCD):c.383-11A>G
|
|
|
|
NM_000337.6(SGCD):c.383-11A>T
|
rs727504584
|
|
|
NM_000337.6(SGCD):c.383-11_383-4dup
|
|
|
|
NM_000337.6(SGCD):c.383-12_383-11insCCTCTCT
|
|
|
|
NM_000337.6(SGCD):c.383-15C>A
|
|
|
|
NM_000337.6(SGCD):c.383-15C>G
|
|
|
|
NM_000337.6(SGCD):c.383-19A>C
|
|
|
|
NM_000337.6(SGCD):c.383-19A>G
|
|
|
|
NM_000337.6(SGCD):c.383-19_383-16del
|
|
|
|
NM_000337.6(SGCD):c.383-20T>C
|
|
|
|
NM_000337.6(SGCD):c.383-7C>T
|
rs1485320081
|
|
|
NM_000337.6(SGCD):c.383-9A>G
|
|
|
|
NM_000337.6(SGCD):c.383-9A>T
|
rs995515938
|
|
|
NM_000337.6(SGCD):c.383-9_383-8del
|
|
|
|
NM_000337.6(SGCD):c.384T>C (p.Gly128=)
|
|
|
|
NM_000337.6(SGCD):c.4-11G>A
|
|
|
|
NM_000337.6(SGCD):c.4-11G>T
|
rs754124727
|
|
|
NM_000337.6(SGCD):c.4-14C>T
|
|
|
|
NM_000337.6(SGCD):c.405T>C (p.Tyr135=)
|
|
|
|
NM_000337.6(SGCD):c.414A>G (p.Lys138=)
|
|
|
|
NM_000337.6(SGCD):c.447C>T (p.Leu149=)
|
|
|
|
NM_000337.6(SGCD):c.465T>C (p.Asn155=)
|
|
|
|
NM_000337.6(SGCD):c.468A>G (p.Glu156=)
|
|
|
|
NM_000337.6(SGCD):c.471G>A (p.Val157=)
|
|
|
|
NM_000337.6(SGCD):c.477A>G (p.Val159=)
|
|
|
|
NM_000337.6(SGCD):c.483T>A (p.Ala161=)
|
|
|
|
NM_000337.6(SGCD):c.48C>T (p.Gly16=)
|
|
|
|
NM_000337.6(SGCD):c.501A>G (p.Leu167=)
|
rs1760873767
|
|
|
NM_000337.6(SGCD):c.502+11T>G
|
|
|
|
NM_000337.6(SGCD):c.502+12T>A
|
|
|
|
NM_000337.6(SGCD):c.502+12T>C
|
|
|
|
NM_000337.6(SGCD):c.502+13G>A
|
|
|
|
NM_000337.6(SGCD):c.502+13G>C
|
|
|
|
NM_000337.6(SGCD):c.502+17_502+19del
|
|
|
|
NM_000337.6(SGCD):c.502+18A>C
|
|
|
|
NM_000337.6(SGCD):c.502+19T>A
|
|
|
|
NM_000337.6(SGCD):c.503-13G>C
|
|
|
|
NM_000337.6(SGCD):c.503-13G>T
|
|
|
|
NM_000337.6(SGCD):c.503-18T>C
|
rs2113585173
|
|
|
NM_000337.6(SGCD):c.503-19T>A
|
rs940013005
|
|
|
NM_000337.6(SGCD):c.503-20C>T
|
|
|
|
NM_000337.6(SGCD):c.507G>T (p.Ala169=)
|
rs10071079
|
|
|
NM_000337.6(SGCD):c.516A>C (p.Thr172=)
|
|
|
|
NM_000337.6(SGCD):c.531T>C (p.Ser177=)
|
|
|
|
NM_000337.6(SGCD):c.540A>G (p.Thr180=)
|
|
|
|
NM_000337.6(SGCD):c.546T>C (p.Asn182=)
|
|
|
|
NM_000337.6(SGCD):c.54G>T (p.Val18=)
|
rs756970013
|
|
|
NM_000337.6(SGCD):c.571C>T (p.Leu191=)
|
|
|
|
NM_000337.6(SGCD):c.573A>G (p.Leu191=)
|
rs780862246
|
|
|
NM_000337.6(SGCD):c.575+10T>G
|
rs1581326695
|
|
|
NM_000337.6(SGCD):c.575+12A>C
|
|
|
|
NM_000337.6(SGCD):c.575+16T>C
|
|
|
|
NM_000337.6(SGCD):c.576-11G>A
|
rs1305012762
|
|
|
NM_000337.6(SGCD):c.576-11G>T
|
|
|
|
NM_000337.6(SGCD):c.576-12G>A
|
|
|
|
NM_000337.6(SGCD):c.576-15T>C
|
rs918017706
|
|
|
NM_000337.6(SGCD):c.576-19G>A
|
|
|
|
NM_000337.6(SGCD):c.576-20C>G
|
|
|
|
NM_000337.6(SGCD):c.576-5T>C
|
rs1757386242
|
|
|
NM_000337.6(SGCD):c.576-7T>G
|
rs2113176805
|
|
|
NM_000337.6(SGCD):c.57G>T (p.Gly19=)
|
|
|
|
NM_000337.6(SGCD):c.588A>G (p.Pro196=)
|
|
|
|
NM_000337.6(SGCD):c.591C>T (p.Thr197=)
|
rs1469091652
|
|
|
NM_000337.6(SGCD):c.594G>T (p.Arg198=)
|
rs754875886
|
|
|
NM_000337.6(SGCD):c.621A>C (p.Gly207=)
|
|
|
|
NM_000337.6(SGCD):c.66A>G (p.Val22=)
|
rs900010728
|
|
|
NM_000337.6(SGCD):c.681G>A (p.Leu227=)
|
rs2113178131
|
|
|
NM_000337.6(SGCD):c.687C>T (p.Ser229=)
|
rs1166804343
|
|
|
NM_000337.6(SGCD):c.699+15G>A
|
rs1440648894
|
|
|
NM_000337.6(SGCD):c.699+20G>C
|
|
|
|
NM_000337.6(SGCD):c.700-10_700-9del
|
|
|
|
NM_000337.6(SGCD):c.700-15A>G
|
|
|
|
NM_000337.6(SGCD):c.700-15A>T
|
|
|
|
NM_000337.6(SGCD):c.700-16T>C
|
|
|
|
NM_000337.6(SGCD):c.700-17C>T
|
|
|
|
NM_000337.6(SGCD):c.700-20T>C
|
|
|
|
NM_000337.6(SGCD):c.700-20T>G
|
rs775624358
|
|
|
NM_000337.6(SGCD):c.700-6_700-3dup
|
|
|
|
NM_000337.6(SGCD):c.700-8_700-5dup
|
rs2113185833
|
|
|
NM_000337.6(SGCD):c.708A>G (p.Leu236=)
|
rs761623268
|
|
|
NM_000337.6(SGCD):c.714T>C (p.Ala238=)
|
rs1554137275
|
|
|
NM_000337.6(SGCD):c.729A>G (p.Leu243=)
|
|
|
|
NM_000337.6(SGCD):c.753C>T (p.Tyr251=)
|
|
|
|
NM_000337.6(SGCD):c.762A>G (p.Thr254=)
|
|
|
|
NM_000337.6(SGCD):c.780C>G (p.Val260=)
|
rs745905613
|
|
|
NM_000337.6(SGCD):c.819G>A (p.Leu273=)
|
|
|
|
NM_000337.6(SGCD):c.819G>T (p.Leu273=)
|
rs563686455
|
|
|
NM_000337.6(SGCD):c.828A>G (p.Ala276=)
|
rs2113186922
|
|
|
NM_000337.6(SGCD):c.832G>A (p.Ala278Thr)
|
rs753240054
|
|
|
NM_000337.6(SGCD):c.837G>A (p.Gly279=)
|
|
|
|
NM_000337.6(SGCD):c.846T>C (p.Cys282=)
|
rs2113187047
|
|
|
NM_000337.6(SGCD):c.870C>A (p.Leu290=)
|
|
|
|
NM_000337.6(SGCD):c.91C>A (p.Arg31=)
|
rs202223676
|
|
|
NM_000337.6(SGCD):c.99A>C (p.Arg33=)
|
|
|
|
NM_000337.6(SGCD):c.9T>C (p.Pro3=)
|
|
|
|
NM_000363.5(TNNI3):c.108+10G>A
|
rs915984061
|
|
|
NM_000363.5(TNNI3):c.108+11G>A
|
|
|
|
NM_000363.5(TNNI3):c.108+17T>A
|
|
|
|
NM_000363.5(TNNI3):c.108+18G>A
|
|
|
|
NM_000363.5(TNNI3):c.108+20G>A
|
|
|
|
NM_000363.5(TNNI3):c.108+20G>C
|
|
|
|
NM_000363.5(TNNI3):c.108+8G>C
|
rs754020806
|
|
|
NM_000363.5(TNNI3):c.108+8G>T
|
rs754020806
|
|
|
NM_000363.5(TNNI3):c.109-11C>A
|
|
|
|
NM_000363.5(TNNI3):c.109-15A>G
|
rs779144176
|
|
|
NM_000363.5(TNNI3):c.109-8C>T
|
rs755553361
|
|
|
NM_000363.5(TNNI3):c.109-9C>T
|
rs2147285341
|
|
|
NM_000363.5(TNNI3):c.11+10G>T
|
|
|
|
NM_000363.5(TNNI3):c.11+11C>A
|
|
|
|
NM_000363.5(TNNI3):c.11+11C>T
|
|
|
|
NM_000363.5(TNNI3):c.11+12C>T
|
|
|
|
NM_000363.5(TNNI3):c.11+13C>G
|
|
|
|
NM_000363.5(TNNI3):c.11+18G>A
|
rs2085743879
|
|
|
NM_000363.5(TNNI3):c.11+7G>A
|
rs2147286653
|
|
|
NM_000363.5(TNNI3):c.11+9T>C
|
rs2147286650
|
|
|
NM_000363.5(TNNI3):c.111A>G (p.Lys37=)
|
rs2147285331
|
|
|
NM_000363.5(TNNI3):c.12-15T>C
|
|
|
|
NM_000363.5(TNNI3):c.12-4C>T
|
rs769896482
|
|
|
NM_000363.5(TNNI3):c.12-8C>T
|
rs2147286239
|
|
|
NM_000363.5(TNNI3):c.126C>T (p.Ser42=)
|
|
|
|
NM_000363.5(TNNI3):c.150+11G>A
|
|
|
|
NM_000363.5(TNNI3):c.150+11G>C
|
|
|
|
NM_000363.5(TNNI3):c.150+12C>T
|
|
|
|
NM_000363.5(TNNI3):c.150+14G>A
|
|
|
|
NM_000363.5(TNNI3):c.150+15G>C
|
|
|
|
NM_000363.5(TNNI3):c.150+7A>G
|
rs1182078295
|
|
|
NM_000363.5(TNNI3):c.150+7_150+105del
|
|
|
|
NM_000363.5(TNNI3):c.150+9G>A
|
rs750675608
|
|
|
NM_000363.5(TNNI3):c.151-19C>G
|
rs2147285060
|
|
|
NM_000363.5(TNNI3):c.151-6C>T
|
|
|
|
NM_000363.5(TNNI3):c.151-8C>T
|
rs786204398
|
|
|
NM_000363.5(TNNI3):c.156G>A (p.Leu52=)
|
rs2085729640
|
|
|
NM_000363.5(TNNI3):c.156G>C (p.Leu52=)
|
rs2085729640
|
|
|
NM_000363.5(TNNI3):c.157C>T (p.Leu53=)
|
rs763981651
|
|
|
NM_000363.5(TNNI3):c.160C>T (p.Leu54=)
|
rs1555864068
|
|
|
NM_000363.5(TNNI3):c.195G>A (p.Ala65=)
|
rs2147284967
|
|
|
NM_000363.5(TNNI3):c.201G>A (p.Glu67=)
|
|
|
|
NM_000363.5(TNNI3):c.207C>A (p.Arg69=)
|
|
|
|
NM_000363.5(TNNI3):c.207C>T (p.Arg69=)
|
rs201422579
|
|
|
NM_000363.5(TNNI3):c.219G>A (p.Gly73=)
|
|
|
|
NM_000363.5(TNNI3):c.24+10G>C
|
|
|
|
NM_000363.5(TNNI3):c.24+11C>A
|
|
|
|
NM_000363.5(TNNI3):c.24+20_24+34del
|
|
|
|
NM_000363.5(TNNI3):c.24+7G>T
|
|
|
|
NM_000363.5(TNNI3):c.246G>A (p.Pro82=)
|
rs397516343
|
|
|
NM_000363.5(TNNI3):c.25-13C>T
|
|
|
|
NM_000363.5(TNNI3):c.25-15C>A
|
|
|
|
NM_000363.5(TNNI3):c.25-16A>G
|
|
|
|
NM_000363.5(TNNI3):c.25-19C>T
|
|
|
|
NM_000363.5(TNNI3):c.25-7A>C
|
rs1171407156
|
|
|
NM_000363.5(TNNI3):c.258C>G (p.Ala86=)
|
rs727503508
|
|
|
NM_000363.5(TNNI3):c.261G>C (p.Gly87=)
|
|
|
|
NM_000363.5(TNNI3):c.264G>T (p.Leu88=)
|
rs772928416
|
|
|
NM_000363.5(TNNI3):c.267C>A (p.Gly89=)
|
|
|
|
NM_000363.5(TNNI3):c.273G>C (p.Ala91=)
|
|
|
|
NM_000363.5(TNNI3):c.282+16_282+17delinsTT
|
rs1555864004
|
|
|
NM_000363.5(TNNI3):c.282+20C>G
|
|
|
|
NM_000363.5(TNNI3):c.283-13G>A
|
|
|
|
NM_000363.5(TNNI3):c.283-14C>T
|
|
|
|
NM_000363.5(TNNI3):c.283-5T>C
|
|
|
|
NM_000363.5(TNNI3):c.294A>G (p.Arg98=)
|
rs1568858567
|
|
|
NM_000363.5(TNNI3):c.309T>C (p.Arg103=)
|
rs749136271
|
|
|
NM_000363.5(TNNI3):c.315C>T (p.Asp105=)
|
rs1555863727
|
|
|
NM_000363.5(TNNI3):c.318G>A (p.Lys106=)
|
rs750350912
|
|
|
NM_000363.5(TNNI3):c.330G>A (p.Glu110=)
|
rs1010374485
|
|
|
NM_000363.5(TNNI3):c.345G>A (p.Glu115=)
|
rs1568858500
|
|
|
NM_000363.5(TNNI3):c.348A>C (p.Ala116=)
|
rs2085716349
|
|
|
NM_000363.5(TNNI3):c.360G>A (p.Lys120=)
|
rs2147283670
|
|
|
NM_000363.5(TNNI3):c.369G>T (p.Thr123=)
|
|
|
|
NM_000363.5(TNNI3):c.372+10A>T
|
rs900155963
|
|
|
NM_000363.5(TNNI3):c.372+11T>G
|
rs2147283647
|
|
|
NM_000363.5(TNNI3):c.372+15C>G
|
|
|
|
NM_000363.5(TNNI3):c.372+17G>T
|
rs2147283646
|
|
|
NM_000363.5(TNNI3):c.372+19T>C
|
|
|
|
NM_000363.5(TNNI3):c.372+8G>A
|
rs200573982
|
|
|
NM_000363.5(TNNI3):c.372+8G>T
|
rs200573982
|
|
|
NM_000363.5(TNNI3):c.373-11T>C
|
rs746918706
|
|
|
NM_000363.5(TNNI3):c.373-12G>A
|
|
|
|
NM_000363.5(TNNI3):c.373-14del
|
rs1472113441
|
|
|
NM_000363.5(TNNI3):c.373-18C>A
|
|
|
|
NM_000363.5(TNNI3):c.373-18C>T
|
|
|
|
NM_000363.5(TNNI3):c.373-7C>T
|
|
|
|
NM_000363.5(TNNI3):c.373-8G>A
|
rs369244036
|
|
|
NM_000363.5(TNNI3):c.373-8G>C
|
rs369244036
|
|
|
NM_000363.5(TNNI3):c.381T>C (p.Asp127=)
|
rs2147283318
|
|
|
NM_000363.5(TNNI3):c.384G>T (p.Leu128=)
|
|
|
|
NM_000363.5(TNNI3):c.42T>C (p.Pro14=)
|
rs2147286009
|
|
|
NM_000363.5(TNNI3):c.42T>G (p.Pro14=)
|
rs2147286009
|
|
|
NM_000363.5(TNNI3):c.432G>T (p.Leu144=)
|
rs776615304
|
|
|
NM_000363.5(TNNI3):c.435G>C (p.Arg145=)
|
rs1599909215
|
|
|
NM_000363.5(TNNI3):c.447C>T (p.Ile149=)
|
rs2147283255
|
|
|
NM_000363.5(TNNI3):c.484C>A (p.Arg162=)
|
rs368861241
|
|
|
NM_000363.5(TNNI3):c.519C>T (p.Leu173=)
|
|
|
|
NM_000363.5(TNNI3):c.51C>G (p.Ala17=)
|
rs2147286002
|
|
|
NM_000363.5(TNNI3):c.51C>T (p.Ala17=)
|
rs2147286002
|
|
|
NM_000363.5(TNNI3):c.543C>G (p.Thr181=)
|
rs926550445
|
|
|
NM_000363.5(TNNI3):c.546G>A (p.Glu182=)
|
rs2147283143
|
|
|
NM_000363.5(TNNI3):c.550-6C>T
|
|
|
|
NM_000363.5(TNNI3):c.570C>T (p.Asp190=)
|
rs1131691856
|
|
|
NM_000363.5(TNNI3):c.57C>T (p.Ile19=)
|
rs778133452
|
|
|
NM_000363.5(TNNI3):c.60A>G (p.Arg20=)
|
|
|
|
NM_000363.5(TNNI3):c.63C>G (p.Arg21=)
|
rs1555864377
|
|
|
NM_000363.5(TNNI3):c.66C>T (p.Arg22=)
|
|
|
|
NM_000363.5(TNNI3):c.6G>T (p.Ala2=)
|
|
|
|
NM_000363.5(TNNI3):c.81C>T (p.Arg27=)
|
|
|
|
NM_000363.5(TNNI3):c.84T>C (p.Ala28=)
|
rs2147285945
|
|
|
NM_000363.5(TNNI3):c.93G>A (p.Thr31=)
|
|
|
|
NM_000363.5(TNNI3):c.96G>A (p.Glu32=)
|
|
|
|
NM_000363.5(TNNI3):c.99G>A (p.Pro33=)
|
rs2085737983
|
|
|
NM_000363.5(TNNI3):c.9T>C (p.Asp3=)
|
rs2085744143
|
|
|
NM_000371.4(TTR):c.108T>A (p.Val36=)
|
|
|
|
NM_000371.4(TTR):c.114T>C (p.Asp38=)
|
rs779619795
|
|
|
NM_000371.4(TTR):c.117T>A (p.Ala39=)
|
|
|
|
NM_000371.4(TTR):c.120C>T (p.Val40=)
|
|
|
|
NM_000371.4(TTR):c.141T>C (p.Asn47=)
|
rs1252826226
|
|
|
NM_000371.4(TTR):c.147C>A (p.Ala49=)
|
|
|
|
NM_000371.4(TTR):c.156G>A (p.Val52=)
|
rs2144406775
|
|
|
NM_000371.4(TTR):c.160A>C (p.Arg54=)
|
|
|
|
NM_000371.4(TTR):c.174T>C (p.Asp58=)
|
|
|
|
NM_000371.4(TTR):c.180C>T (p.Thr60=)
|
|
|
|
NM_000371.4(TTR):c.195C>T (p.Ala65=)
|
rs571695233
|
|
|
NM_000371.4(TTR):c.198T>G (p.Ser66=)
|
|
|
|
NM_000371.4(TTR):c.200+12A>G
|
|
|
|
NM_000371.4(TTR):c.200+14G>T
|
rs2144406929
|
|
|
NM_000371.4(TTR):c.200+7del
|
|
|
|
NM_000371.4(TTR):c.200+8G>T
|
rs761675505
|
|
|
NM_000371.4(TTR):c.201-10C>A
|
|
|
|
NM_000371.4(TTR):c.201-10C>T
|
rs1380934184
|
|
|
NM_000371.4(TTR):c.201-4A>G
|
|
|
|
NM_000371.4(TTR):c.201-7C>T
|
|
|
|
NM_000371.4(TTR):c.201-9A>C
|
|
|
|
NM_000371.4(TTR):c.21C>T (p.Leu7=)
|
rs2144405313
|
|
|
NM_000371.4(TTR):c.223C>T (p.Leu75=)
|
rs2073510448
|
|
|
NM_000371.4(TTR):c.249A>G (p.Glu83=)
|
|
|
|
NM_000371.4(TTR):c.300G>A (p.Lys100=)
|
rs2144409644
|
|
|
NM_000371.4(TTR):c.327G>A (p.Glu109=)
|
rs876661395
|
|
|
NM_000371.4(TTR):c.333A>G (p.Ala111=)
|
|
|
|
NM_000371.4(TTR):c.336+10C>G
|
|
|
|
NM_000371.4(TTR):c.337-12C>T
|
|
|
|
NM_000371.4(TTR):c.337-16C>G
|
|
|
|
NM_000371.4(TTR):c.381T>C (p.Ile127=)
|
|
|
|
NM_000371.4(TTR):c.387C>A (p.Ala129=)
|
|
|
|
NM_000371.4(TTR):c.390G>A (p.Leu130=)
|
|
|
|
NM_000371.4(TTR):c.390G>C (p.Leu130=)
|
|
|
|
NM_000371.4(TTR):c.391C>T (p.Leu131=)
|
rs121918073
|
|
|
NM_000371.4(TTR):c.396C>T (p.Ser132=)
|
rs2144414307
|
|
|
NM_000371.4(TTR):c.423C>T (p.Val141=)
|
rs557320637
|
|
|
NM_000371.4(TTR):c.45A>G (p.Val15=)
|
|
|
|
NM_000371.4(TTR):c.54T>C (p.Ser18=)
|
|
|
|
NM_000371.4(TTR):c.57G>A (p.Glu19=)
|
|
|
|
NM_000371.4(TTR):c.66T>C (p.Pro22=)
|
rs2144405395
|
|
|
NM_000371.4(TTR):c.69+10T>C
|
rs1179187406
|
|
|
NM_000371.4(TTR):c.69+13G>C
|
rs2073488528
|
|
|
NM_000371.4(TTR):c.69+7G>A
|
rs1453023289
|
|
|
NM_000371.4(TTR):c.6T>G (p.Ala2=)
|
|
|
|
NM_000371.4(TTR):c.70-19G>A
|
rs548935944
|
|
|
NM_000371.4(TTR):c.70-19G>T
|
rs548935944
|
|
|
NM_000371.4(TTR):c.70-4C>T
|
|
|
|
NM_000371.4(TTR):c.70-5C>T
|
rs757103675
|
|
|
NM_000371.4(TTR):c.70-9T>A
|
|
|
|
NM_000371.4(TTR):c.9T>C (p.Ser3=)
|
rs1598843600
|
|
|
NM_000432.4(MYL2):c.123T>C (p.Asp41=)
|
|
|
|
NM_000432.4(MYL2):c.135C>T (p.Asp45=)
|
rs199474807
|
|
|
NM_000432.4(MYL2):c.141C>T (p.Asn47=)
|
rs199474808
|
|
|
NM_000432.4(MYL2):c.170-17T>C
|
rs1453191107
|
|
|
NM_000432.4(MYL2):c.170-20G>A
|
|
|
|
NM_000432.4(MYL2):c.170-20GT[3]
|
rs764824483
|
|
|
NM_000432.4(MYL2):c.172C>A (p.Arg58=)
|
rs756671869
|
|
|
NM_000432.4(MYL2):c.174A>G (p.Arg58=)
|
rs777225996
|
|
|
NM_000432.4(MYL2):c.183G>A (p.Val61=)
|
rs933908830
|
|
|
NM_000432.4(MYL2):c.18A>G (p.Ala6=)
|
|
|
|
NM_000432.4(MYL2):c.222G>T (p.Pro74=)
|
|
|
|
NM_000432.4(MYL2):c.249C>T (p.Leu83=)
|
rs1240275237
|
|
|
NM_000432.4(MYL2):c.274+11_274+12insGC
|
|
|
|
NM_000432.4(MYL2):c.274+13G>A
|
|
|
|
NM_000432.4(MYL2):c.274+18T>A
|
|
|
|
NM_000432.4(MYL2):c.274+20T>C
|
|
|
|
NM_000432.4(MYL2):c.274+9G>C
|
|
|
|
NM_000432.4(MYL2):c.274+9GT[4]
|
|
|
|
NM_000432.4(MYL2):c.275-15T>C
|
|
|
|
NM_000432.4(MYL2):c.275-16C>G
|
rs1377138024
|
|
|
NM_000432.4(MYL2):c.275-18C>T
|
|
|
|
NM_000432.4(MYL2):c.275-19G>A
|
|
|
|
NM_000432.4(MYL2):c.285T>G (p.Pro95=)
|
rs1592799785
|
|
|
NM_000432.4(MYL2):c.298C>G (p.Leu100Val)
|
rs573898913
|
|
|
NM_000432.4(MYL2):c.3+14C>T
|
|
|
|
NM_000432.4(MYL2):c.3+20G>A
|
|
|
|
NM_000432.4(MYL2):c.300C>T (p.Leu100=)
|
rs1253123682
|
|
|
NM_000432.4(MYL2):c.308T>G (p.Phe103Cys)
|
rs547860537
|
|
|
NM_000432.4(MYL2):c.30C>A (p.Ala10=)
|
rs752641375
|
|
|
NM_000432.4(MYL2):c.30C>G (p.Ala10=)
|
|
|
|
NM_000432.4(MYL2):c.330C>A (p.Gly110=)
|
|
|
|
NM_000432.4(MYL2):c.351T>C (p.Asp117=)
|
|
|
|
NM_000432.4(MYL2):c.353+12C>T
|
|
|
|
NM_000432.4(MYL2):c.353+16G>T
|
rs572363699
|
|
|
NM_000432.4(MYL2):c.353+19G>A
|
|
|
|
NM_000432.4(MYL2):c.353+21A>C
|
rs2136770699
|
|
|
NM_000432.4(MYL2):c.353+9G>A
|
rs2136770734
|
|
|
NM_000432.4(MYL2):c.354-17C>G
|
rs2136770510
|
|
|
NM_000432.4(MYL2):c.354-4G>A
|
|
|
|
NM_000432.4(MYL2):c.354-6C>G
|
rs977023771
|
|
|
NM_000432.4(MYL2):c.354-6C>T
|
rs977023771
|
|
|
NM_000432.4(MYL2):c.354-8C>G
|
rs767657562
|
|
|
NM_000432.4(MYL2):c.354-8C>T
|
|
|
|
NM_000432.4(MYL2):c.367C>T (p.Leu123=)
|
rs2136770433
|
|
|
NM_000432.4(MYL2):c.369G>A (p.Leu123=)
|
rs2136770430
|
|
|
NM_000432.4(MYL2):c.375G>C (p.Thr125=)
|
rs190020833
|
|
|
NM_000432.4(MYL2):c.4-5C>T
|
rs374870836
|
|
|
NM_000432.4(MYL2):c.4-6_4-5delinsTT
|
rs2136777520
|
|
|
NM_000432.4(MYL2):c.4-8T>A
|
|
|
|
NM_000432.4(MYL2):c.4-9T>A
|
rs758688050
|
|
|
NM_000432.4(MYL2):c.4-9T>C
|
|
|
|
NM_000432.4(MYL2):c.402+10T>A
|
rs2136770333
|
|
|
NM_000432.4(MYL2):c.402+17A>G
|
rs1555257745
|
|
|
NM_000432.4(MYL2):c.402+20A>C
|
|
|
|
NM_000432.4(MYL2):c.402+7G>C
|
|
|
|
NM_000432.4(MYL2):c.402+8G>T
|
rs886048959
|
|
|
NM_000432.4(MYL2):c.402+9G>A
|
|
|
|
NM_000432.4(MYL2):c.403-15G>C
|
rs202105636
|
|
|
NM_000432.4(MYL2):c.403-16T>C
|
|
|
|
NM_000432.4(MYL2):c.403-18G>A
|
|
|
|
NM_000432.4(MYL2):c.403-4G>C
|
rs200888544
|
|
|
NM_000432.4(MYL2):c.403-7A>C
|
rs2071650175
|
|
|
NM_000432.4(MYL2):c.403-9T>C
|
|
|
|
NM_000432.4(MYL2):c.417C>T (p.Phe139=)
|
rs781107246
|
|
|
NM_000432.4(MYL2):c.420C>A (p.Ala140=)
|
|
|
|
NM_000432.4(MYL2):c.420C>T (p.Ala140=)
|
rs369489428
|
|
|
NM_000432.4(MYL2):c.429C>G (p.Pro143=)
|
rs374328118
|
|
|
NM_000432.4(MYL2):c.435C>T (p.Asp145=)
|
rs766907447
|
|
|
NM_000432.4(MYL2):c.444C>T (p.Gly148=)
|
rs1555257596
|
|
|
NM_000432.4(MYL2):c.45_46delinsT (p.Asn16fs)
|
rs727504300
|
|
|
NM_000432.4(MYL2):c.465G>C (p.Leu155=)
|
rs1256208287
|
|
|
NM_000432.4(MYL2):c.480C>T (p.Thr160=)
|
rs727505065
|
|
|
NM_000432.4(MYL2):c.486A>C (p.Gly162=)
|
rs1177510197
|
|
|
NM_000432.4(MYL2):c.486A>T (p.Gly162=)
|
|
|
|
NM_000432.4(MYL2):c.501G>A (p.Ter167=)
|
rs2136767524
|
|
|
NM_000432.4(MYL2):c.72C>G (p.Thr24=)
|
rs2136777292
|
|
|
NM_000432.4(MYL2):c.78C>T (p.Ile26=)
|
rs755926255
|
|
|
NM_000432.4(MYL2):c.93+14T>G
|
|
|
|
NM_000432.4(MYL2):c.93+9A>G
|
rs201580029
|
|
|
NM_000432.4(MYL2):c.94-10C>T
|
rs2071684471
|
|
|
NM_000432.4(MYL2):c.94-15A>C
|
rs1202280683
|
|
|
NM_000432.4(MYL2):c.94-17T>C
|
|
|
|
NM_000432.4(MYL2):c.94-19A>G
|
rs921973455
|
|
|
NM_000432.4(MYL2):c.99C>T (p.Phe33=)
|
rs2136774131
|
|
|
NM_000475.5(NR0B1):c.1005C>T (p.Pro335=)
|
|
|
|
NM_000475.5(NR0B1):c.1020G>A (p.Gln340=)
|
|
|
|
NM_000475.5(NR0B1):c.1023C>T (p.His341=)
|
|
|
|
NM_000475.5(NR0B1):c.1033C>A (p.Pro345Thr)
|
|
|
|
NM_000475.5(NR0B1):c.105G>A (p.Val35=)
|
|
|
|
NM_000475.5(NR0B1):c.1062C>A (p.Ser354=)
|
|
|
|
NM_000475.5(NR0B1):c.1062C>G (p.Ser354=)
|
|
|
|
NM_000475.5(NR0B1):c.1062C>T (p.Ser354=)
|
|
|
|
NM_000475.5(NR0B1):c.1065C>T (p.Ala355=)
|
|
|
|
NM_000475.5(NR0B1):c.1068C>T (p.Ser356=)
|
|
|
|
NM_000475.5(NR0B1):c.1119C>T (p.Ile373=)
|
|
|
|
NM_000475.5(NR0B1):c.1125C>T (p.Thr375=)
|
|
|
|
NM_000475.5(NR0B1):c.1151C>T (p.Thr384Ile)
|
|
|
|
NM_000475.5(NR0B1):c.1161T>C (p.Phe387=)
|
|
|
|
NM_000475.5(NR0B1):c.1164C>T (p.Asn388=)
|
|
|
|
NM_000475.5(NR0B1):c.1168+13dup
|
|
|
|
NM_000475.5(NR0B1):c.1168+7G>T
|
|
|
|
NM_000475.5(NR0B1):c.1169-10C>T
|
|
|
|
NM_000475.5(NR0B1):c.1169-8C>A
|
|
|
|
NM_000475.5(NR0B1):c.1179C>T (p.Gly393=)
|
|
|
|
NM_000475.5(NR0B1):c.1198A>G (p.Ile400Val)
|
|
|
|
NM_000475.5(NR0B1):c.1218A>G (p.Gly406=)
|
|
|
|
NM_000475.5(NR0B1):c.1219A>G (p.Thr407Ala)
|
|
|
|
NM_000475.5(NR0B1):c.1245C>A (p.Thr415=)
|
|
|
|
NM_000475.5(NR0B1):c.1245C>G (p.Thr415=)
|
|
|
|
NM_000475.5(NR0B1):c.1248G>A (p.Arg416=)
|
|
|
|
NM_000475.5(NR0B1):c.1254G>A (p.Thr418=)
|
|
|
|
NM_000475.5(NR0B1):c.1257C>T (p.His419=)
|
|
|
|
NM_000475.5(NR0B1):c.126G>C (p.Ser42=)
|
|
|
|
NM_000475.5(NR0B1):c.1279A>G (p.Ile427Val)
|
|
|
|
NM_000475.5(NR0B1):c.1281C>T (p.Ile427=)
|
|
|
|
NM_000475.5(NR0B1):c.1299T>C (p.Leu433=)
|
|
|
|
NM_000475.5(NR0B1):c.1308G>A (p.Leu436=)
|
rs2147004349
|
|
|
NM_000475.5(NR0B1):c.1323C>G (p.Ala441=)
|
|
|
|
NM_000475.5(NR0B1):c.1398C>G (p.Leu466=)
|
|
|
|
NM_000475.5(NR0B1):c.144G>C (p.Gly48=)
|
|
|
|
NM_000475.5(NR0B1):c.151A>C (p.Arg51=)
|
|
|
|
NM_000475.5(NR0B1):c.159G>T (p.Gly53=)
|
|
|
|
NM_000475.5(NR0B1):c.160C>T (p.Leu54=)
|
|
|
|
NM_000475.5(NR0B1):c.162G>A (p.Leu54=)
|
|
|
|
NM_000475.5(NR0B1):c.162G>T (p.Leu54=)
|
|
|
|
NM_000475.5(NR0B1):c.171G>C (p.Gly57=)
|
|
|
|
NM_000475.5(NR0B1):c.18C>T (p.His6=)
|
|
|
|
NM_000475.5(NR0B1):c.192C>T (p.Tyr64=)
|
|
|
|
NM_000475.5(NR0B1):c.198C>T (p.Cys66=)
|
|
|
|
NM_000475.5(NR0B1):c.210T>C (p.Gly70=)
|
|
|
|
NM_000475.5(NR0B1):c.210T>G (p.Gly70=)
|
|
|
|
NM_000475.5(NR0B1):c.213A>G (p.Lys71=)
|
|
|
|
NM_000475.5(NR0B1):c.223C>A (p.Arg75=)
|
|
|
|
NM_000475.5(NR0B1):c.237C>A (p.Ile79=)
|
rs2147007339
|
|
|
NM_000475.5(NR0B1):c.252G>C (p.Leu84=)
|
rs1192762456
|
|
|
NM_000475.5(NR0B1):c.255G>T (p.Thr85=)
|
rs759371222
|
|
|
NM_000475.5(NR0B1):c.276G>C (p.Ala92=)
|
|
|
|
NM_000475.5(NR0B1):c.276G>T (p.Ala92=)
|
|
|
|
NM_000475.5(NR0B1):c.279A>T (p.Ala93=)
|
|
|
|
NM_000475.5(NR0B1):c.281C>A (p.Pro94Gln)
|
|
|
|
NM_000475.5(NR0B1):c.291C>T (p.Pro97=)
|
|
|
|
NM_000475.5(NR0B1):c.300G>C (p.Thr100=)
|
|
|
|
NM_000475.5(NR0B1):c.30C>T (p.Gly10=)
|
|
|
|
NM_000475.5(NR0B1):c.318C>G (p.Gly106=)
|
|
|
|
NM_000475.5(NR0B1):c.324G>T (p.Ser108=)
|
|
|
|
NM_000475.5(NR0B1):c.339C>T (p.Pro113=)
|
|
|
|
NM_000475.5(NR0B1):c.33C>T (p.Ser11=)
|
|
|
|
NM_000475.5(NR0B1):c.357G>T (p.Gly119=)
|
|
|
|
NM_000475.5(NR0B1):c.360T>G (p.Leu120=)
|
|
|
|
NM_000475.5(NR0B1):c.363G>A (p.Pro121=)
|
|
|
|
NM_000475.5(NR0B1):c.366T>C (p.Gly122=)
|
|
|
|
NM_000475.5(NR0B1):c.367G>A (p.Gly123Arg)
|
|
|
|
NM_000475.5(NR0B1):c.369G>A (p.Gly123=)
|
|
|
|
NM_000475.5(NR0B1):c.375C>T (p.Pro125=)
|
|
|
|
NM_000475.5(NR0B1):c.381A>G (p.Ala127=)
|
|
|
|
NM_000475.5(NR0B1):c.405T>C (p.Cys135=)
|
|
|
|
NM_000475.5(NR0B1):c.414C>T (p.Asp138=)
|
|
|
|
NM_000475.5(NR0B1):c.420G>A (p.Pro140=)
|
|
|
|
NM_000475.5(NR0B1):c.432C>T (p.Ser144=)
|
|
|
|
NM_000475.5(NR0B1):c.44A>G (p.Asn15Ser)
|
|
|
|
NM_000475.5(NR0B1):c.471C>T (p.His157=)
|
|
|
|
NM_000475.5(NR0B1):c.480G>A (p.Pro160=)
|
|
|
|
NM_000475.5(NR0B1):c.489C>G (p.Pro163=)
|
|
|
|
NM_000475.5(NR0B1):c.507C>A (p.Gly169=)
|
|
|
|
NM_000475.5(NR0B1):c.508G>C (p.Ala170Pro)
|
|
|
|
NM_000475.5(NR0B1):c.510G>A (p.Ala170=)
|
|
|
|
NM_000475.5(NR0B1):c.51T>C (p.Leu17=)
|
|
|
|
NM_000475.5(NR0B1):c.525C>T (p.Ser175=)
|
|
|
|
NM_000475.5(NR0B1):c.555G>A (p.Glu185=)
|
|
|
|
NM_000475.5(NR0B1):c.559C>T (p.Leu187=)
|
|
|
|
NM_000475.5(NR0B1):c.579G>A (p.Thr193=)
|
|
|
|
NM_000475.5(NR0B1):c.582G>C (p.Ala194=)
|
rs1275730944
|
|
|
NM_000475.5(NR0B1):c.582G>T (p.Ala194=)
|
|
|
|
NM_000475.5(NR0B1):c.585T>C (p.Leu195=)
|
|
|
|
NM_000475.5(NR0B1):c.603T>C (p.Phe201=)
|
|
|
|
NM_000475.5(NR0B1):c.624G>A (p.Gln208=)
|
|
|
|
NM_000475.5(NR0B1):c.642C>T (p.Tyr214=)
|
|
|
|
NM_000475.5(NR0B1):c.645C>T (p.Cys215=)
|
|
|
|
NM_000475.5(NR0B1):c.654G>A (p.Thr218=)
|
|
|
|
NM_000475.5(NR0B1):c.654G>C (p.Thr218=)
|
|
|
|
NM_000475.5(NR0B1):c.654G>T (p.Thr218=)
|
|
|
|
NM_000475.5(NR0B1):c.669G>T (p.Ala223=)
|
|
|
|
NM_000475.5(NR0B1):c.685G>A (p.Glu229Lys)
|
|
|
|
NM_000475.5(NR0B1):c.690G>C (p.Arg230=)
|
|
|
|
NM_000475.5(NR0B1):c.693G>A (p.Pro231=)
|
|
|
|
NM_000475.5(NR0B1):c.696G>A (p.Arg232=)
|
|
|
|
NM_000475.5(NR0B1):c.699C>T (p.Ala233=)
|
|
|
|
NM_000475.5(NR0B1):c.69G>A (p.Thr23=)
|
|
|
|
NM_000475.5(NR0B1):c.6G>A (p.Ala2=)
|
|
|
|
NM_000475.5(NR0B1):c.6G>C (p.Ala2=)
|
|
|
|
NM_000475.5(NR0B1):c.702C>T (p.Pro234=)
|
|
|
|
NM_000475.5(NR0B1):c.726G>A (p.Ala242=)
|
|
|
|
NM_000475.5(NR0B1):c.753A>G (p.Pro251=)
|
|
|
|
NM_000475.5(NR0B1):c.756G>A (p.Gln252=)
|
|
|
|
NM_000475.5(NR0B1):c.762C>T (p.Val254=)
|
|
|
|
NM_000475.5(NR0B1):c.774C>T (p.Ala258=)
|
|
|
|
NM_000475.5(NR0B1):c.777A>G (p.Ser259=)
|
|
|
|
NM_000475.5(NR0B1):c.780G>A (p.Ala260=)
|
|
|
|
NM_000475.5(NR0B1):c.801C>T (p.Arg267=)
|
|
|
|
NM_000475.5(NR0B1):c.804C>T (p.Phe268=)
|
|
|
|
NM_000475.5(NR0B1):c.828G>A (p.Gln276=)
|
|
|
|
NM_000475.5(NR0B1):c.858G>A (p.Leu286=)
|
|
|
|
NM_000475.5(NR0B1):c.885C>T (p.Leu295=)
|
|
|
|
NM_000475.5(NR0B1):c.891T>C (p.Leu297=)
|
|
|
|
NM_000475.5(NR0B1):c.897G>A (p.Leu299=)
|
|
|
|
NM_000475.5(NR0B1):c.912G>A (p.Leu304=)
|
|
|
|
NM_000475.5(NR0B1):c.936G>A (p.Ser312=)
|
|
|
|
NM_000475.5(NR0B1):c.939G>C (p.Glu313Asp)
|
|
|
|
NM_000475.5(NR0B1):c.966C>T (p.Thr322=)
|
|
|
|
NM_000475.5(NR0B1):c.969C>A (p.Thr323=)
|
|
|
|
NM_000475.5(NR0B1):c.9C>A (p.Gly3=)
|
|
|
|
NM_001005242.3(PKP2):c.1002T>C (p.Thr334=)
|
rs2137945629
|
|
|
NM_001005242.3(PKP2):c.1020T>C (p.Thr340=)
|
|
|
|
NM_001005242.3(PKP2):c.1029G>A (p.Gln343=)
|
|
|
|
NM_001005242.3(PKP2):c.102C>T (p.Ser34=)
|
rs2138010805
|
|
|
NM_001005242.3(PKP2):c.1034+13C>G
|
|
|
|
NM_001005242.3(PKP2):c.1034+19C>T
|
|
|
|
NM_001005242.3(PKP2):c.1034+9C>G
|
|
|
|
NM_001005242.3(PKP2):c.1035-13C>T
|
rs1189037360
|
|
|
NM_001005242.3(PKP2):c.1035-18C>T
|
rs1373621892
|
|
|
NM_001005242.3(PKP2):c.1035-20dup
|
|
|
|
NM_001005242.3(PKP2):c.1035-8_1035-5del
|
|
|
|
NM_001005242.3(PKP2):c.1035G>A (p.Gly345=)
|
rs905404609
|
|
|
NM_001005242.3(PKP2):c.1059G>A (p.Leu353=)
|
|
|
|
NM_001005242.3(PKP2):c.1101A>G (p.Pro367=)
|
rs776927054
|
|
|
NM_001005242.3(PKP2):c.1104C>G (p.Ser368=)
|
rs892666132
|
|
|
NM_001005242.3(PKP2):c.1107G>A (p.Arg369=)
|
|
|
|
NM_001005242.3(PKP2):c.1114G>C (p.Ala372Pro)
|
rs200586695
|
|
|
NM_001005242.3(PKP2):c.1122T>C (p.Ala374=)
|
rs2137919557
|
|
|
NM_001005242.3(PKP2):c.1152A>G (p.Lys384=)
|
|
|
|
NM_001005242.3(PKP2):c.1170+10A>C
|
|
|
|
NM_001005242.3(PKP2):c.1170+14T>A
|
|
|
|
NM_001005242.3(PKP2):c.1170+15C>A
|
rs1395923604
|
|
|
NM_001005242.3(PKP2):c.1170+17G>A
|
|
|
|
NM_001005242.3(PKP2):c.1170+18T>C
|
rs2137919020
|
|
|
NM_001005242.3(PKP2):c.1170+18T>G
|
|
|
|
NM_001005242.3(PKP2):c.1170+19C>G
|
|
|
|
NM_001005242.3(PKP2):c.1171-19G>A
|
rs376451546
|
|
|
NM_001005242.3(PKP2):c.1171-19G>T
|
rs376451546
|
|
|
NM_001005242.3(PKP2):c.1171-20T>C
|
|
|
|
NM_001005242.3(PKP2):c.1171-20T>G
|
rs1592750729
|
|
|
NM_001005242.3(PKP2):c.1171-5_1171-2dup
|
rs2137863489
|
|
|
NM_001005242.3(PKP2):c.1212A>C (p.Leu404=)
|
|
|
|
NM_001005242.3(PKP2):c.1212A>G (p.Leu404=)
|
rs1592750669
|
|
|
NM_001005242.3(PKP2):c.1224T>C (p.Asn408=)
|
|
|
|
NM_001005242.3(PKP2):c.1233T>G (p.Val411=)
|
rs2137863106
|
|
|
NM_001005242.3(PKP2):c.123G>A (p.Ala41=)
|
|
|
|
NM_001005242.3(PKP2):c.1251G>T (p.Gly417=)
|
rs567854722
|
|
|
NM_001005242.3(PKP2):c.126G>A (p.Gly42=)
|
rs2138010654
|
|
|
NM_001005242.3(PKP2):c.1278C>T (p.Asp426=)
|
|
|
|
NM_001005242.3(PKP2):c.12C>A (p.Pro4=)
|
|
|
|
NM_001005242.3(PKP2):c.1314G>T (p.Gly438=)
|
rs2137862483
|
|
|
NM_001005242.3(PKP2):c.1338G>A (p.Leu446=)
|
|
|
|
NM_001005242.3(PKP2):c.1353C>T (p.Asp451=)
|
rs879074880
|
|
|
NM_001005242.3(PKP2):c.1359G>A (p.Glu453=)
|
rs1158553343
|
|
|
NM_001005242.3(PKP2):c.1378+17A>G
|
|
|
|
NM_001005242.3(PKP2):c.1379-1966del
|
rs1555144717
|
|
|
NM_001005242.3(PKP2):c.1379-1967C>T
|
|
|
|
NM_001005242.3(PKP2):c.1379-1984C>T
|
rs759017992
|
|
|
NM_001005242.3(PKP2):c.1379-1990G>A
|
rs747472526
|
|
|
NM_001005242.3(PKP2):c.1379-1998C>A
|
rs151212477
|
|
|
NM_001005242.3(PKP2):c.1379-2002A>G
|
rs1283785731
|
|
|
NM_001005242.3(PKP2):c.1379-2011G>C
|
rs140301552
|
|
|
NM_001005242.3(PKP2):c.1379-2062G>A
|
|
|
|
NM_001005242.3(PKP2):c.1379-2068C>A
|
|
|
|
NM_001005242.3(PKP2):c.1379-2080T>C
|
rs2137838317
|
|
|
NM_001005242.3(PKP2):c.1379-2083G>A
|
rs1592747658
|
|
|
NM_001005242.3(PKP2):c.1379-2101A>G
|
rs1424035271
|
|
|
NM_001005242.3(PKP2):c.1379-2107C>T
|
|
|
|
NM_001005242.3(PKP2):c.1379-2114G>A
|
rs2137838518
|
|
|
NM_001005242.3(PKP2):c.1379-2117T>A
|
rs1956617482
|
|
|
NM_001005242.3(PKP2):c.1383G>A (p.Leu461=)
|
rs2137831117
|
|
|
NM_001005242.3(PKP2):c.1398A>C (p.Ser466=)
|
rs1163940991
|
|
|
NM_001005242.3(PKP2):c.1443T>C (p.Leu481=)
|
|
|
|
NM_001005242.3(PKP2):c.1485T>C (p.Pro495=)
|
rs879043258
|
|
|
NM_001005242.3(PKP2):c.1497C>T (p.Tyr499=)
|
rs765139046
|
|
|
NM_001005242.3(PKP2):c.1506A>T (p.Ala502=)
|
rs2137830158
|
|
|
NM_001005242.3(PKP2):c.1554A>C (p.Leu518=)
|
|
|
|
NM_001005242.3(PKP2):c.1556+10C>T
|
rs1057521860
|
|
|
NM_001005242.3(PKP2):c.1556+11C>G
|
rs754845481
|
|
|
NM_001005242.3(PKP2):c.1556+15A>T
|
|
|
|
NM_001005242.3(PKP2):c.1557-10T>G
|
|
|
|
NM_001005242.3(PKP2):c.1557-14_1557-8del
|
rs1220372775
|
|
|
NM_001005242.3(PKP2):c.1557-5G>A
|
rs1956411165
|
|
|
NM_001005242.3(PKP2):c.1569T>C (p.Ser523=)
|
rs1592738689
|
|
|
NM_001005242.3(PKP2):c.1593G>A (p.Ala531=)
|
rs760093803
|
|
|
NM_001005242.3(PKP2):c.1593G>C (p.Ala531=)
|
rs760093803
|
|
|
NM_001005242.3(PKP2):c.1593G>T (p.Ala531=)
|
rs760093803
|
|
|
NM_001005242.3(PKP2):c.15C>G (p.Gly5=)
|
rs1390632513
|
|
|
NM_001005242.3(PKP2):c.15C>T (p.Gly5=)
|
rs1390632513
|
|
|
NM_001005242.3(PKP2):c.1600A>C (p.Arg534=)
|
rs541792948
|
|
|
NM_001005242.3(PKP2):c.1638C>T (p.Val546=)
|
rs2137783220
|
|
|
NM_001005242.3(PKP2):c.1644A>T (p.Gly548=)
|
rs1555143127
|
|
|
NM_001005242.3(PKP2):c.1674+12G>C
|
|
|
|
NM_001005242.3(PKP2):c.1674+18T>C
|
|
|
|
NM_001005242.3(PKP2):c.1675-10G>A
|
|
|
|
NM_001005242.3(PKP2):c.1675-11del
|
|
|
|
NM_001005242.3(PKP2):c.1675-19T>G
|
|
|
|
NM_001005242.3(PKP2):c.1707C>T (p.Asn569=)
|
|
|
|
NM_001005242.3(PKP2):c.1719G>A (p.Gln573=)
|
|
|
|
NM_001005242.3(PKP2):c.1734C>G (p.Leu578=)
|
rs1460314882
|
|
|
NM_001005242.3(PKP2):c.1737A>G (p.Pro579=)
|
rs766498974
|
|
|
NM_001005242.3(PKP2):c.1737A>T (p.Pro579=)
|
|
|
|
NM_001005242.3(PKP2):c.174G>A (p.Glu58=)
|
rs146708884
|
|
|
NM_001005242.3(PKP2):c.1794C>T (p.Asn598=)
|
rs727503370
|
|
|
NM_001005242.3(PKP2):c.1809T>C (p.Cys603=)
|
rs767935208
|
|
|
NM_001005242.3(PKP2):c.180G>T (p.Val60=)
|
|
|
|
NM_001005242.3(PKP2):c.1840-19T>C
|
|
|
|
NM_001005242.3(PKP2):c.1840-6G>T
|
|
|
|
NM_001005242.3(PKP2):c.1848G>A (p.Gln616=)
|
rs759353036
|
|
|
NM_001005242.3(PKP2):c.1851C>T (p.Asp617=)
|
rs752732048
|
|
|
NM_001005242.3(PKP2):c.1854G>A (p.Val618=)
|
|
|
|
NM_001005242.3(PKP2):c.1866G>A (p.Glu622=)
|
rs1956377972
|
|
|
NM_001005242.3(PKP2):c.1872G>A (p.Lys624=)
|
rs1395644069
|
|
|
NM_001005242.3(PKP2):c.1881C>T (p.Pro627=)
|
|
|
|
NM_001005242.3(PKP2):c.1893G>A (p.Glu631=)
|
|
|
|
NM_001005242.3(PKP2):c.1908C>T (p.Ser636=)
|
rs138495471
|
|
|
NM_001005242.3(PKP2):c.1941C>T (p.Ala647=)
|
|
|
|
NM_001005242.3(PKP2):c.1986G>A (p.Leu662=)
|
rs2137772910
|
|
|
NM_001005242.3(PKP2):c.1998G>C (p.Thr666=)
|
rs371089832
|
|
|
NM_001005242.3(PKP2):c.1998G>T (p.Thr666=)
|
rs371089832
|
|
|
NM_001005242.3(PKP2):c.2007T>C (p.Ser669=)
|
rs2137772710
|
|
|
NM_001005242.3(PKP2):c.2013+8T>C
|
|
|
|
NM_001005242.3(PKP2):c.2014-16A>G
|
|
|
|
NM_001005242.3(PKP2):c.2028G>A (p.Val676=)
|
rs1397771521
|
|
|
NM_001005242.3(PKP2):c.2037A>T (p.Thr679=)
|
rs377504106
|
|
|
NM_001005242.3(PKP2):c.2043C>T (p.Val681=)
|
rs1422427818
|
|
|
NM_001005242.3(PKP2):c.2055T>C (p.Ser685=)
|
|
|
|
NM_001005242.3(PKP2):c.2125C>T (p.Leu709=)
|
rs2137725297
|
|
|
NM_001005242.3(PKP2):c.2130G>A (p.Arg710=)
|
rs2137725263
|
|
|
NM_001005242.3(PKP2):c.213C>G (p.Ser71=)
|
rs1173618581
|
|
|
NM_001005242.3(PKP2):c.2151T>G (p.Ser717=)
|
|
|
|
NM_001005242.3(PKP2):c.2152C>T (p.Leu718=)
|
rs1592729512
|
|
|
NM_001005242.3(PKP2):c.2154G>C (p.Leu718=)
|
|
|
|
NM_001005242.3(PKP2):c.2168-10C>T
|
rs1410924735
|
|
|
NM_001005242.3(PKP2):c.2168-16T>C
|
|
|
|
NM_001005242.3(PKP2):c.2168-16T>G
|
rs746498808
|
|
|
NM_001005242.3(PKP2):c.2168-19T>G
|
rs527736735
|
|
|
NM_001005242.3(PKP2):c.2168-21_2168-19del
|
rs747997926
|
|
|
NM_001005242.3(PKP2):c.2168-4G>C
|
rs376231586
|
|
|
NM_001005242.3(PKP2):c.2168-4G>T
|
rs376231586
|
|
|
NM_001005242.3(PKP2):c.2181C>T (p.Leu727=)
|
rs1032835001
|
|
|
NM_001005242.3(PKP2):c.2229T>G (p.Leu743=)
|
|
|
|
NM_001005242.3(PKP2):c.223+12C>T
|
|
|
|
NM_001005242.3(PKP2):c.223+13C>A
|
|
|
|
NM_001005242.3(PKP2):c.223+13C>T
|
|
|
|
NM_001005242.3(PKP2):c.223+18C>T
|
|
|
|
NM_001005242.3(PKP2):c.2235T>A (p.Ile745=)
|
|
|
|
NM_001005242.3(PKP2):c.224-10T>C
|
rs1956962712
|
|
|
NM_001005242.3(PKP2):c.224-14T>C
|
|
|
|
NM_001005242.3(PKP2):c.224-18A>G
|
rs370733920
|
|
|
NM_001005242.3(PKP2):c.224-18A>T
|
rs370733920
|
|
|
NM_001005242.3(PKP2):c.2262A>G (p.Thr754=)
|
rs2137708394
|
|
|
NM_001005242.3(PKP2):c.2265G>A (p.Leu755=)
|
rs267603441
|
|
|
NM_001005242.3(PKP2):c.2271C>T (p.Asn757=)
|
|
|
|
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser)
|
rs139734328
|
|
|
NM_001005242.3(PKP2):c.2307T>C (p.Leu769=)
|
|
|
|
NM_001005242.3(PKP2):c.2319G>A (p.Gly773=)
|
|
|
|
NM_001005242.3(PKP2):c.2340C>T (p.Ala780=)
|
|
|
|
NM_001005242.3(PKP2):c.2346T>C (p.Ser782=)
|
rs2137707818
|
|
|
NM_001005242.3(PKP2):c.234C>T (p.His78=)
|
rs1591829350
|
|
|
NM_001005242.3(PKP2):c.2357+13G>A
|
|
|
|
NM_001005242.3(PKP2):c.2358-10T>C
|
|
|
|
NM_001005242.3(PKP2):c.2358-14C>A
|
|
|
|
NM_001005242.3(PKP2):c.2358-20G>T
|
|
|
|
NM_001005242.3(PKP2):c.2358-9T>C
|
rs1592724586
|
|
|
NM_001005242.3(PKP2):c.2388T>G (p.Ala796=)
|
rs1956081645
|
|
|
NM_001005242.3(PKP2):c.2398C>T (p.Leu800=)
|
rs2137698131
|
|
|
NM_001005242.3(PKP2):c.2415A>G (p.Ala805=)
|
|
|
|
NM_001005242.3(PKP2):c.2418C>T (p.His806=)
|
rs756749174
|
|
|
NM_001005242.3(PKP2):c.2427G>A (p.Leu809=)
|
|
|
|
NM_001005242.3(PKP2):c.2445+11G>A
|
|
|
|
NM_001005242.3(PKP2):c.2445+11G>T
|
rs1356336963
|
|
|
NM_001005242.3(PKP2):c.2445+16A>G
|
rs1956080169
|
|
|
NM_001005242.3(PKP2):c.2445+17G>A
|
|
|
|
NM_001005242.3(PKP2):c.2445+18G>A
|
|
|
|
NM_001005242.3(PKP2):c.2445+8C>G
|
rs2137697843
|
|
|
NM_001005242.3(PKP2):c.2446-10dup
|
rs397517024
|
|
|
NM_001005242.3(PKP2):c.2446-11T>C
|
|
|
|
NM_001005242.3(PKP2):c.2446-17G>A
|
|
|
|
NM_001005242.3(PKP2):c.2446-4A>G
|
|
|
|
NM_001005242.3(PKP2):c.2446-5del
|
|
|
|
NM_001005242.3(PKP2):c.2448T>C (p.Ala816=)
|
|
|
|
NM_001005242.3(PKP2):c.2460G>A (p.Lys820=)
|
|
|
|
NM_001005242.3(PKP2):c.2499C>A (p.His833Gln)
|
rs202094467
|
|
|
NM_001005242.3(PKP2):c.2511C>T (p.Asp837=)
|
|
|
|
NM_001005242.3(PKP2):c.252T>G (p.Pro84=)
|
rs1591829338
|
|
|
NM_001005242.3(PKP2):c.258T>C (p.Tyr86=)
|
|
|
|
NM_001005242.3(PKP2):c.261C>T (p.Val87=)
|
|
|
|
NM_001005242.3(PKP2):c.273C>T (p.His91=)
|
|
|
|
NM_001005242.3(PKP2):c.274T>C (p.Leu92=)
|
|
|
|
NM_001005242.3(PKP2):c.306C>T (p.Ser102=)
|
|
|
|
NM_001005242.3(PKP2):c.309T>C (p.Pro103=)
|
rs2137952679
|
|
|
NM_001005242.3(PKP2):c.30C>T (p.Tyr10=)
|
|
|
|
NM_001005242.3(PKP2):c.327C>T (p.Asp109=)
|
rs1285494956
|
|
|
NM_001005242.3(PKP2):c.336+10C>G
|
rs2137952378
|
|
|
NM_001005242.3(PKP2):c.336+16A>C
|
|
|
|
NM_001005242.3(PKP2):c.336+17dup
|
rs2137952357
|
|
|
NM_001005242.3(PKP2):c.336+20A>G
|
|
|
|
NM_001005242.3(PKP2):c.336+7del
|
|
|
|
NM_001005242.3(PKP2):c.336+8del
|
rs1591829238
|
|
|
NM_001005242.3(PKP2):c.337-19T>G
|
rs780342528
|
|
|
NM_001005242.3(PKP2):c.337-4G>A
|
rs751175344
|
|
|
NM_001005242.3(PKP2):c.337-8_337-7del
|
|
|
|
NM_001005242.3(PKP2):c.348T>A (p.Thr116=)
|
|
|
|
NM_001005242.3(PKP2):c.357T>C (p.Tyr119=)
|
rs758097199
|
|
|
NM_001005242.3(PKP2):c.36C>T (p.Tyr12=)
|
|
|
|
NM_001005242.3(PKP2):c.390C>T (p.Tyr130=)
|
rs763303290
|
|
|
NM_001005242.3(PKP2):c.402G>A (p.Lys134=)
|
|
|
|
NM_001005242.3(PKP2):c.406G>A (p.Val136Met)
|
rs567795321
|
|
|
NM_001005242.3(PKP2):c.411A>G (p.Glu137=)
|
rs1591829029
|
|
|
NM_001005242.3(PKP2):c.417G>A (p.Arg139=)
|
|
|
|
NM_001005242.3(PKP2):c.420C>T (p.Ser140=)
|
rs2389115
|
|
|
NM_001005242.3(PKP2):c.433C>T (p.Leu145=)
|
|
|
|
NM_001005242.3(PKP2):c.438G>A (p.Arg146=)
|
|
|
|
NM_001005242.3(PKP2):c.447G>A (p.Glu149=)
|
|
|
|
NM_001005242.3(PKP2):c.453T>C (p.Ser151=)
|
|
|
|
NM_001005242.3(PKP2):c.45C>A (p.Thr15=)
|
rs759214983
|
|
|
NM_001005242.3(PKP2):c.510G>A (p.Gln170=)
|
rs1591828909
|
|
|
NM_001005242.3(PKP2):c.525G>T (p.Gly175=)
|
|
|
|
NM_001005242.3(PKP2):c.528C>T (p.His176=)
|
|
|
|
NM_001005242.3(PKP2):c.558C>A (p.Ala186=)
|
|
|
|
NM_001005242.3(PKP2):c.561C>G (p.Ala187=)
|
|
|
|
NM_001005242.3(PKP2):c.567A>G (p.Leu189=)
|
rs1555148149
|
|
|
NM_001005242.3(PKP2):c.597C>T (p.Ile199=)
|
rs866985131
|
|
|
NM_001005242.3(PKP2):c.621C>A (p.Thr207=)
|
rs2137949092
|
|
|
NM_001005242.3(PKP2):c.657A>G (p.Arg219=)
|
rs750880081
|
|
|
NM_001005242.3(PKP2):c.663C>T (p.Tyr221=)
|
rs767987619
|
|
|
NM_001005242.3(PKP2):c.672C>T (p.Gly224=)
|
rs2137948758
|
|
|
NM_001005242.3(PKP2):c.69A>G (p.Gly23=)
|
rs1591836131
|
|
|
NM_001005242.3(PKP2):c.717C>T (p.Ala239=)
|
rs143777637
|
|
|
NM_001005242.3(PKP2):c.730C>G (p.Pro244Ala)
|
rs756376477
|
|
|
NM_001005242.3(PKP2):c.735G>A (p.Arg245=)
|
|
|
|
NM_001005242.3(PKP2):c.750C>T (p.Arg250=)
|
rs1327751203
|
|
|
NM_001005242.3(PKP2):c.762C>T (p.Asn254=)
|
rs1034147527
|
|
|
NM_001005242.3(PKP2):c.771G>A (p.Glu257=)
|
rs1060504159
|
|
|
NM_001005242.3(PKP2):c.786G>T (p.Leu262=)
|
|
|
|
NM_001005242.3(PKP2):c.792A>C (p.Ala264=)
|
rs2137947897
|
|
|
NM_001005242.3(PKP2):c.822G>C (p.Leu274=)
|
|
|
|
NM_001005242.3(PKP2):c.828C>T (p.Pro276=)
|
rs2137947497
|
|
|
NM_001005242.3(PKP2):c.849C>T (p.Asn283=)
|
|
|
|
NM_001005242.3(PKP2):c.912T>C (p.Ala304=)
|
rs1591828546
|
|
|
NM_001005242.3(PKP2):c.924C>A (p.Val308=)
|
|
|
|
NM_001005242.3(PKP2):c.942G>A (p.Gly314=)
|
rs1956947291
|
|
|
NM_001005242.3(PKP2):c.946A>C (p.Arg316=)
|
|
|
|
NM_001005242.3(PKP2):c.954C>T (p.His318=)
|
|
|
|
NM_001005242.3(PKP2):c.963C>G (p.Val321=)
|
|
|
|
NM_001005242.3(PKP2):c.964G>T (p.Gly322Cys)
|
rs200069860
|
|
|
NM_001005242.3(PKP2):c.972G>C (p.Ala324=)
|
rs142636176
|
|
|
NM_001005242.3(PKP2):c.972G>T (p.Ala324=)
|
rs142636176
|
|
|
NM_001005242.3(PKP2):c.975C>A (p.Ala325=)
|
rs369921166
|
|
|
NM_001005242.3(PKP2):c.990G>A (p.Gly330=)
|
rs749862514
|
|
|
NM_001005242.3(PKP2):c.999C>T (p.Leu333=)
|
rs2137945654
|
|
|
NM_001005242.3(PKP2):c.9C>T (p.Ala3=)
|
|
|
|
NM_001018005.2(TPM1):c.111G>A (p.Lys37=)
|
rs2140596743
|
|
|
NM_001018005.2(TPM1):c.114+10T>C
|
rs2140597303
|
|
|
NM_001018005.2(TPM1):c.114+12C>T
|
|
|
|
NM_001018005.2(TPM1):c.114+15G>C
|
|
|
|
NM_001018005.2(TPM1):c.114+15G>T
|
rs552212991
|
|
|
NM_001018005.2(TPM1):c.114+19C>T
|
|
|
|
NM_001018005.2(TPM1):c.114+20T>G
|
|
|
|
NM_001018005.2(TPM1):c.115-19C>T
|
|
|
|
NM_001018005.2(TPM1):c.115-5C>T
|
|
|
|
NM_001018005.2(TPM1):c.123T>C (p.Asp41=)
|
rs1029129685
|
|
|
NM_001018005.2(TPM1):c.126G>A (p.Glu42=)
|
rs2031852609
|
|
|
NM_001018005.2(TPM1):c.132G>A (p.Val44=)
|
rs2140627644
|
|
|
NM_001018005.2(TPM1):c.141A>G (p.Gln47=)
|
|
|
|
NM_001018005.2(TPM1):c.144G>A (p.Lys48=)
|
rs1555403374
|
|
|
NM_001018005.2(TPM1):c.150C>A (p.Leu50=)
|
rs2140627934
|
|
|
NM_001018005.2(TPM1):c.153G>A (p.Lys51=)
|
rs1555403378
|
|
|
NM_001018005.2(TPM1):c.15G>A (p.Lys5=)
|
rs2140594119
|
|
|
NM_001018005.2(TPM1):c.162A>G (p.Glu54=)
|
|
|
|
NM_001018005.2(TPM1):c.183T>C (p.Ser61=)
|
|
|
|
NM_001018005.2(TPM1):c.207G>A (p.Glu69=)
|
|
|
|
NM_001018005.2(TPM1):c.21G>A (p.Lys7=)
|
rs2140594266
|
|
|
NM_001018005.2(TPM1):c.240+16C>T
|
|
|
|
NM_001018005.2(TPM1):c.240+9A>G
|
|
|
|
NM_001018005.2(TPM1):c.241-10C>T
|
rs917063084
|
|
|
NM_001018005.2(TPM1):c.241-13A>C
|
|
|
|
NM_001018005.2(TPM1):c.241-19C>G
|
|
|
|
NM_001018005.2(TPM1):c.241-6A>G
|
|
|
|
NM_001018005.2(TPM1):c.294G>A (p.Glu98=)
|
rs747206706
|
|
|
NM_001018005.2(TPM1):c.297G>A (p.Leu99=)
|
|
|
|
NM_001018005.2(TPM1):c.312G>A (p.Glu104=)
|
|
|
|
NM_001018005.2(TPM1):c.327T>G (p.Ala109=)
|
rs2140908643
|
|
|
NM_001018005.2(TPM1):c.345A>G (p.Glu115=)
|
rs1596361307
|
|
|
NM_001018005.2(TPM1):c.374+16C>T
|
|
|
|
NM_001018005.2(TPM1):c.374+19C>A
|
|
|
|
NM_001018005.2(TPM1):c.375-8C>A
|
|
|
|
NM_001018005.2(TPM1):c.375-8_375-5del
|
rs2140936859
|
|
|
NM_001018005.2(TPM1):c.384A>G (p.Lys128=)
|
|
|
|
NM_001018005.2(TPM1):c.390T>C (p.Ile130=)
|
|
|
|
NM_001018005.2(TPM1):c.417A>G (p.Glu139=)
|
rs2140937690
|
|
|
NM_001018005.2(TPM1):c.441A>G (p.Gln147=)
|
rs1596372306
|
|
|
NM_001018005.2(TPM1):c.45G>A (p.Lys15=)
|
rs199476301
|
|
|
NM_001018005.2(TPM1):c.492+11G>T
|
|
|
|
NM_001018005.2(TPM1):c.492+16C>A
|
|
|
|
NM_001018005.2(TPM1):c.492+17dup
|
|
|
|
NM_001018005.2(TPM1):c.492+19A>C
|
|
|
|
NM_001018005.2(TPM1):c.492+19A>G
|
|
|
|
NM_001018005.2(TPM1):c.492+9C>G
|
rs2140938836
|
|
|
NM_001018005.2(TPM1):c.493-10C>T
|
rs1051722554
|
|
|
NM_001018005.2(TPM1):c.493-13C>T
|
rs143628676
|
|
|
NM_001018005.2(TPM1):c.493-17G>A
|
rs1055806170
|
|
|
NM_001018005.2(TPM1):c.493-9del
|
|
|
|
NM_001018005.2(TPM1):c.51C>T (p.Asn17=)
|
rs878854150
|
|
|
NM_001018005.2(TPM1):c.534T>C (p.Arg178=)
|
|
|
|
NM_001018005.2(TPM1):c.546G>A (p.Arg182=)
|
rs1555409143
|
|
|
NM_001018005.2(TPM1):c.561A>G (p.Glu187=)
|
|
|
|
NM_001018005.2(TPM1):c.563+13G>A
|
|
|
|
NM_001018005.2(TPM1):c.563+15C>T
|
|
|
|
NM_001018005.2(TPM1):c.563+17C>T
|
|
|
|
NM_001018005.2(TPM1):c.563+9G>A
|
|
|
|
NM_001018005.2(TPM1):c.564-11dup
|
|
|
|
NM_001018005.2(TPM1):c.564-12C>G
|
rs113591254
|
|
|
NM_001018005.2(TPM1):c.564-14A>G
|
|
|
|
NM_001018005.2(TPM1):c.564-15G>T
|
|
|
|
NM_001018005.2(TPM1):c.564-19C>G
|
|
|
|
NM_001018005.2(TPM1):c.564-8A>C
|
rs2140963062
|
|
|
NM_001018005.2(TPM1):c.573C>G (p.Ala191=)
|
|
|
|
NM_001018005.2(TPM1):c.585A>G (p.Glu195=)
|
rs3218717
|
|
|
NM_001018005.2(TPM1):c.588A>G (p.Glu196=)
|
|
|
|
NM_001018005.2(TPM1):c.589T>C (p.Leu197=)
|
rs2140963629
|
|
|
NM_001018005.2(TPM1):c.603G>C (p.Thr201=)
|
rs397516485
|
|
|
NM_001018005.2(TPM1):c.606C>T (p.Asn202=)
|
rs1225777387
|
|
|
NM_001018005.2(TPM1):c.618A>T (p.Ser206=)
|
|
|
|
NM_001018005.2(TPM1):c.619C>T (p.Leu207=)
|
|
|
|
NM_001018005.2(TPM1):c.61C>A (p.Arg21=)
|
rs1437698471
|
|
|
NM_001018005.2(TPM1):c.627T>G (p.Ala209=)
|
rs769210513
|
|
|
NM_001018005.2(TPM1):c.639+14A>G
|
rs2140964792
|
|
|
NM_001018005.2(TPM1):c.639+16G>A
|
|
|
|
NM_001018005.2(TPM1):c.639+20T>C
|
|
|
|
NM_001018005.2(TPM1):c.640-14C>T
|
rs781638696
|
|
|
NM_001018005.2(TPM1):c.640-4A>G
|
rs2140969178
|
|
|
NM_001018005.2(TPM1):c.640-4_640-3insAA
|
|
|
|
NM_001018005.2(TPM1):c.645G>T (p.Ser215=)
|
rs773403386
|
|
|
NM_001018005.2(TPM1):c.678G>A (p.Lys226=)
|
|
|
|
NM_001018005.2(TPM1):c.681C>G (p.Val227=)
|
rs2140969848
|
|
|
NM_001018005.2(TPM1):c.681C>T (p.Val227=)
|
|
|
|
NM_001018005.2(TPM1):c.687C>G (p.Ser229=)
|
|
|
|
NM_001018005.2(TPM1):c.702+12G>A
|
|
|
|
NM_001018005.2(TPM1):c.702+15G>C
|
rs2140970549
|
|
|
NM_001018005.2(TPM1):c.702+16T>C
|
|
|
|
NM_001018005.2(TPM1):c.702+7T>A
|
rs201873332
|
|
|
NM_001018005.2(TPM1):c.702+7del
|
rs1060504368
|
|
|
NM_001018005.2(TPM1):c.703-14A>G
|
|
|
|
NM_001018005.2(TPM1):c.703-16A>G
|
|
|
|
NM_001018005.2(TPM1):c.703-8C>T
|
|
|
|
NM_001018005.2(TPM1):c.759T>C (p.Ile253=)
|
|
|
|
NM_001018005.2(TPM1):c.75G>T (p.Ala25=)
|
rs1214191576
|
|
|
NM_001018005.2(TPM1):c.772+12A>G
|
|
|
|
NM_001018005.2(TPM1):c.772+14T>C
|
|
|
|
NM_001018005.2(TPM1):c.772+15A>G
|
|
|
|
NM_001018005.2(TPM1):c.772+16G>A
|
|
|
|
NM_001018005.2(TPM1):c.772+8C>T
|
|
|
|
NM_001018005.2(TPM1):c.773-4A>G
|
rs1555410410
|
|
|
NM_001018005.2(TPM1):c.773-6T>A
|
rs374049254
|
|
|
NM_001018005.2(TPM1):c.773-8G>C
|
rs1480009148
|
|
|
NM_001018005.2(TPM1):c.786T>C (p.Ala262=)
|
rs2140991865
|
|
|
NM_001018005.2(TPM1):c.813C>T (p.Ser271=)
|
|
|
|
NM_001018005.2(TPM1):c.822G>A (p.Leu274=)
|
rs2140992413
|
|
|
NM_001018005.2(TPM1):c.831T>C (p.Ala277=)
|
|
|
|
NM_001018005.2(TPM1):c.851+14C>T
|
rs2140993340
|
|
|
NM_001018005.2(TPM1):c.851+7G>T
|
|
|
|
NM_001018005.2(TPM1):c.851+7del
|
|
|
|
NM_001018005.2(TPM1):c.852-10C>T
|
rs1407421108
|
|
|
NM_001018005.2(TPM1):c.852-12A>G
|
rs1414878944
|
|
|
NM_001018005.2(TPM1):c.852-6A>G
|
|
|
|
NM_001018005.2(TPM1):c.87G>A (p.Lys29=)
|
rs530234301
|
|
|
NM_001018005.2(TPM1):c.99A>G (p.Glu33=)
|
|
|
|
NM_001035.3(RYR2):c.10020G>T (p.Leu3340=)
|
rs2149066994
|
|
|
NM_001035.3(RYR2):c.10026T>C (p.Ala3342=)
|
rs2149067032
|
|
|
NM_001035.3(RYR2):c.10032C>G (p.Ala3344=)
|
rs2149067070
|
|
|
NM_001035.3(RYR2):c.10038G>A (p.Gly3346=)
|
|
|
|
NM_001035.3(RYR2):c.10038G>T (p.Gly3346=)
|
|
|
|
NM_001035.3(RYR2):c.10041C>T (p.Asp3347=)
|
|
|
|
NM_001035.3(RYR2):c.1005+19T>G
|
|
|
|
NM_001035.3(RYR2):c.1005+7C>G
|
rs774100182
|
|
|
NM_001035.3(RYR2):c.1005+9G>A
|
rs1052046365
|
|
|
NM_001035.3(RYR2):c.10059C>T (p.Leu3353=)
|
rs370015676
|
|
|
NM_001035.3(RYR2):c.1006-15C>T
|
|
|
|
NM_001035.3(RYR2):c.1006-15del
|
|
|
|
NM_001035.3(RYR2):c.1006-20T>A
|
rs2150146334
|
|
|
NM_001035.3(RYR2):c.1006-8C>T
|
rs1425668743
|
|
|
NM_001035.3(RYR2):c.10062C>T (p.Leu3354=)
|
rs931521804
|
|
|
NM_001035.3(RYR2):c.10078A>G (p.Thr3360Ala)
|
|
|
|
NM_001035.3(RYR2):c.1008A>G (p.Glu336=)
|
|
|
|
NM_001035.3(RYR2):c.10098C>G (p.Leu3366=)
|
|
|
|
NM_001035.3(RYR2):c.10098C>T (p.Leu3366=)
|
|
|
|
NM_001035.3(RYR2):c.10137T>C (p.Tyr3379=)
|
|
|
|
NM_001035.3(RYR2):c.10142+15A>C
|
|
|
|
NM_001035.3(RYR2):c.10142+15A>G
|
|
|
|
NM_001035.3(RYR2):c.10142+8C>G
|
|
|
|
NM_001035.3(RYR2):c.10143-15_10143-12del
|
rs2149069509
|
|
|
NM_001035.3(RYR2):c.10146A>C (p.Ala3382=)
|
rs773965844
|
|
|
NM_001035.3(RYR2):c.10146A>T (p.Ala3382=)
|
|
|
|
NM_001035.3(RYR2):c.10190G>A (p.Arg3397His)
|
rs753630324
|
|
|
NM_001035.3(RYR2):c.10190G>T (p.Arg3397Leu)
|
rs753630324
|
|
|
NM_001035.3(RYR2):c.10224G>A (p.Lys3408=)
|
|
|
|
NM_001035.3(RYR2):c.10230+16T>C
|
|
|
|
NM_001035.3(RYR2):c.10230+9_10230+15del
|
rs1573617993
|
|
|
NM_001035.3(RYR2):c.10231-11C>T
|
rs1688861182
|
|
|
NM_001035.3(RYR2):c.10231-17C>A
|
|
|
|
NM_001035.3(RYR2):c.1023G>A (p.Gly341=)
|
|
|
|
NM_001035.3(RYR2):c.10248G>A (p.Glu3416=)
|
|
|
|
NM_001035.3(RYR2):c.10287T>C (p.Ser3429=)
|
rs1301505729
|
|
|
NM_001035.3(RYR2):c.10302T>C (p.Asp3434=)
|
rs775183266
|
|
|
NM_001035.3(RYR2):c.10323+13dup
|
rs886046276
|
|
|
NM_001035.3(RYR2):c.10323+15T>A
|
|
|
|
NM_001035.3(RYR2):c.10323+20C>T
|
|
|
|
NM_001035.3(RYR2):c.10323+9A>G
|
|
|
|
NM_001035.3(RYR2):c.10324-10T>G
|
rs2149100282
|
|
|
NM_001035.3(RYR2):c.10324-11_10324-10del
|
rs2149100270
|
|
|
NM_001035.3(RYR2):c.10324-12T>C
|
|
|
|
NM_001035.3(RYR2):c.10324-13C>T
|
|
|
|
NM_001035.3(RYR2):c.10324-17T>G
|
|
|
|
NM_001035.3(RYR2):c.10324-19A>C
|
rs2149100202
|
|
|
NM_001035.3(RYR2):c.10324-7T>C
|
rs2149100302
|
|
|
NM_001035.3(RYR2):c.10324-9G>A
|
rs1238809463
|
|
|
NM_001035.3(RYR2):c.10344A>G (p.Glu3448=)
|
|
|
|
NM_001035.3(RYR2):c.10374G>T (p.Arg3458=)
|
|
|
|
NM_001035.3(RYR2):c.10407T>G (p.Ala3469=)
|
|
|
|
NM_001035.3(RYR2):c.10417T>C (p.Leu3473=)
|
rs767626639
|
|
|
NM_001035.3(RYR2):c.10425C>G (p.Pro3475=)
|
rs756160043
|
|
|
NM_001035.3(RYR2):c.10434G>A (p.Leu3478=)
|
rs2149100807
|
|
|
NM_001035.3(RYR2):c.10446C>T (p.Ala3482=)
|
rs746150182
|
|
|
NM_001035.3(RYR2):c.10494+7_10494+11dup
|
|
|
|
NM_001035.3(RYR2):c.10494+8_10494+9del
|
rs760691531
|
|
|
NM_001035.3(RYR2):c.10495-12A>G
|
|
|
|
NM_001035.3(RYR2):c.10495-16AT[2]
|
rs764166022
|
|
|
NM_001035.3(RYR2):c.10503C>A (p.Thr3501=)
|
rs2797441
|
|
|
NM_001035.3(RYR2):c.10515A>T (p.Val3505=)
|
|
|
|
NM_001035.3(RYR2):c.10545A>G (p.Leu3515=)
|
rs1246758548
|
|
|
NM_001035.3(RYR2):c.10555-16T>C
|
|
|
|
NM_001035.3(RYR2):c.10555-9T>C
|
|
|
|
NM_001035.3(RYR2):c.10557G>A (p.Leu3519=)
|
rs558910032
|
|
|
NM_001035.3(RYR2):c.10617T>C (p.Asp3539=)
|
|
|
|
NM_001035.3(RYR2):c.10620T>C (p.Asp3540=)
|
rs2149125659
|
|
|
NM_001035.3(RYR2):c.10626A>G (p.Ser3542=)
|
|
|
|
NM_001035.3(RYR2):c.10632A>G (p.Pro3544=)
|
rs1689897244
|
|
|
NM_001035.3(RYR2):c.10635G>A (p.Glu3545=)
|
rs1558290780
|
|
|
NM_001035.3(RYR2):c.10656G>A (p.Leu3552=)
|
|
|
|
NM_001035.3(RYR2):c.10659T>C (p.Asp3553=)
|
|
|
|
NM_001035.3(RYR2):c.10665A>T (p.Ala3555=)
|
rs764666057
|
|
|
NM_001035.3(RYR2):c.10671G>A (p.Val3557=)
|
|
|
|
NM_001035.3(RYR2):c.10677T>C (p.Phe3559=)
|
rs2149125932
|
|
|
NM_001035.3(RYR2):c.10680T>C (p.His3560=)
|
rs727503404
|
|
|
NM_001035.3(RYR2):c.10686A>G (p.Glu3562=)
|
rs1553300632
|
|
|
NM_001035.3(RYR2):c.10689+12T>C
|
|
|
|
NM_001035.3(RYR2):c.10689+13G>A
|
|
|
|
NM_001035.3(RYR2):c.10689+17A>G
|
|
|
|
NM_001035.3(RYR2):c.10690-4T>A
|
rs1219349222
|
|
|
NM_001035.3(RYR2):c.10690-6T>C
|
rs1314601816
|
|
|
NM_001035.3(RYR2):c.10692G>A (p.Lys3564=)
|
|
|
|
NM_001035.3(RYR2):c.10704G>A (p.Val3568=)
|
rs1000043466
|
|
|
NM_001035.3(RYR2):c.10707T>C (p.Gly3569=)
|
rs2149138721
|
|
|
NM_001035.3(RYR2):c.1071T>A (p.Gly357=)
|
rs2150146835
|
|
|
NM_001035.3(RYR2):c.10725+17dup
|
|
|
|
NM_001035.3(RYR2):c.10725+20G>A
|
|
|
|
NM_001035.3(RYR2):c.10725+7A>G
|
rs2149138963
|
|
|
NM_001035.3(RYR2):c.10726-19T>G
|
|
|
|
NM_001035.3(RYR2):c.10726-7A>G
|
|
|
|
NM_001035.3(RYR2):c.10749A>G (p.Lys3583=)
|
|
|
|
NM_001035.3(RYR2):c.10758A>G (p.Val3586=)
|
rs2149142188
|
|
|
NM_001035.3(RYR2):c.10770A>G (p.Leu3590=)
|
rs903446046
|
|
|
NM_001035.3(RYR2):c.10773G>A (p.Leu3591=)
|
|
|
|
NM_001035.3(RYR2):c.10779G>A (p.Lys3593=)
|
|
|
|
NM_001035.3(RYR2):c.10806C>T (p.Cys3602=)
|
|
|
|
NM_001035.3(RYR2):c.10818C>T (p.Ala3606=)
|
rs1558298221
|
|
|
NM_001035.3(RYR2):c.10824A>G (p.Leu3608=)
|
rs1223609812
|
|
|
NM_001035.3(RYR2):c.10838+14T>C
|
|
|
|
NM_001035.3(RYR2):c.10838+15del
|
|
|
|
NM_001035.3(RYR2):c.10839-17T>C
|
|
|
|
NM_001035.3(RYR2):c.10878G>A (p.Lys3626=)
|
|
|
|
NM_001035.3(RYR2):c.10893A>T (p.Thr3631=)
|
rs1207013704
|
|
|
NM_001035.3(RYR2):c.10914T>C (p.Asp3638=)
|
rs1690563932
|
|
|
NM_001035.3(RYR2):c.10935+11A>T
|
|
|
|
NM_001035.3(RYR2):c.10935+16G>T
|
|
|
|
NM_001035.3(RYR2):c.10935+17_10935+18delinsTT
|
rs1690568496
|
|
|
NM_001035.3(RYR2):c.10936-15T>A
|
rs372569768
|
|
|
NM_001035.3(RYR2):c.10936-15T>C
|
|
|
|
NM_001035.3(RYR2):c.10936-19A>G
|
|
|
|
NM_001035.3(RYR2):c.10936-8T>C
|
|
|
|
NM_001035.3(RYR2):c.10965T>C (p.Asp3655=)
|
rs1573718403
|
|
|
NM_001035.3(RYR2):c.10974T>C (p.Thr3658=)
|
rs2149168019
|
|
|
NM_001035.3(RYR2):c.10977G>A (p.Lys3659=)
|
rs2149168060
|
|
|
NM_001035.3(RYR2):c.10992A>G (p.Leu3664=)
|
rs2149168131
|
|
|
NM_001035.3(RYR2):c.11004C>T (p.Ile3668=)
|
rs1464010382
|
|
|
NM_001035.3(RYR2):c.11037A>G (p.Lys3679=)
|
|
|
|
NM_001035.3(RYR2):c.11039+14G>C
|
rs748101859
|
|
|
NM_001035.3(RYR2):c.11039+17T>C
|
rs2149168464
|
|
|
NM_001035.3(RYR2):c.11039+9G>A
|
|
|
|
NM_001035.3(RYR2):c.11040-14C>A
|
|
|
|
NM_001035.3(RYR2):c.11040-19T>C
|
|
|
|
NM_001035.3(RYR2):c.11040-20T>C
|
|
|
|
NM_001035.3(RYR2):c.1107C>T (p.Gly369=)
|
rs767221382
|
|
|
NM_001035.3(RYR2):c.11091+13C>G
|
|
|
|
NM_001035.3(RYR2):c.11091+16T>G
|
|
|
|
NM_001035.3(RYR2):c.11091+16dup
|
|
|
|
NM_001035.3(RYR2):c.11091+20G>A
|
|
|
|
NM_001035.3(RYR2):c.11092-16T>G
|
|
|
|
NM_001035.3(RYR2):c.11092-21_11092-5del
|
|
|
|
NM_001035.3(RYR2):c.11092-5T>C
|
rs1322016202
|
|
|
NM_001035.3(RYR2):c.11092-8del
|
rs752640368
|
|
|
NM_001035.3(RYR2):c.11092-8dup
|
|
|
|
NM_001035.3(RYR2):c.11120G>A (p.Gly3707Asp)
|
rs755613281
|
|
|
NM_001035.3(RYR2):c.11133G>A (p.Val3711=)
|
|
|
|
NM_001035.3(RYR2):c.11145+18G>A
|
|
|
|
NM_001035.3(RYR2):c.11146-15G>T
|
rs1692945934
|
|
|
NM_001035.3(RYR2):c.11146-17T>C
|
|
|
|
NM_001035.3(RYR2):c.11146-19G>A
|
|
|
|
NM_001035.3(RYR2):c.11146-8G>A
|
rs1425021300
|
|
|
NM_001035.3(RYR2):c.11175A>G (p.Leu3725=)
|
rs2149261872
|
|
|
NM_001035.3(RYR2):c.11181G>A (p.Gln3727=)
|
|
|
|
NM_001035.3(RYR2):c.1119T>G (p.Thr373=)
|
rs202231354
|
|
|
NM_001035.3(RYR2):c.11202T>A (p.Arg3734=)
|
rs763792914
|
|
|
NM_001035.3(RYR2):c.11202T>G (p.Arg3734=)
|
rs763792914
|
|
|
NM_001035.3(RYR2):c.11245+18C>G
|
|
|
|
NM_001035.3(RYR2):c.11245+7T>G
|
rs548465188
|
|
|
NM_001035.3(RYR2):c.11246-17T>C
|
rs2149266209
|
|
|
NM_001035.3(RYR2):c.11246-5C>A
|
|
|
|
NM_001035.3(RYR2):c.11246-8T>A
|
|
|
|
NM_001035.3(RYR2):c.11250A>G (p.Glu3750=)
|
|
|
|
NM_001035.3(RYR2):c.1128T>C (p.Ser376=)
|
rs2150147217
|
|
|
NM_001035.3(RYR2):c.11325+7G>A
|
|
|
|
NM_001035.3(RYR2):c.11325+9T>C
|
|
|
|
NM_001035.3(RYR2):c.11326-10A>T
|
|
|
|
NM_001035.3(RYR2):c.11326-17T>G
|
|
|
|
NM_001035.3(RYR2):c.11326-19G>A
|
|
|
|
NM_001035.3(RYR2):c.11346G>A (p.Lys3782=)
|
|
|
|
NM_001035.3(RYR2):c.11355G>A (p.Lys3785=)
|
rs553416597
|
|
|
NM_001035.3(RYR2):c.11376C>T (p.Ser3792=)
|
|
|
|
NM_001035.3(RYR2):c.11379G>A (p.Leu3793=)
|
|
|
|
NM_001035.3(RYR2):c.11397A>G (p.Ser3799=)
|
rs1573837527
|
|
|
NM_001035.3(RYR2):c.11397A>T (p.Ser3799=)
|
|
|
|
NM_001035.3(RYR2):c.11402+7A>T
|
rs765365656
|
|
|
NM_001035.3(RYR2):c.11402+7_11402+9del
|
rs794728701
|
|
|
NM_001035.3(RYR2):c.11403-10G>T
|
rs1226426842
|
|
|
NM_001035.3(RYR2):c.11403-11T>C
|
rs2149276943
|
|
|
NM_001035.3(RYR2):c.11403-13C>T
|
|
|
|
NM_001035.3(RYR2):c.11403-14C>A
|
rs1284487377
|
|
|
NM_001035.3(RYR2):c.11403-17T>A
|
|
|
|
NM_001035.3(RYR2):c.11403-4A>G
|
rs1318526635
|
|
|
NM_001035.3(RYR2):c.11406C>T (p.Val3802=)
|
|
|
|
NM_001035.3(RYR2):c.11413C>T (p.Leu3805=)
|
|
|
|
NM_001035.3(RYR2):c.11427G>A (p.Glu3809=)
|
rs553350678
|
|
|
NM_001035.3(RYR2):c.11476+17T>A
|
|
|
|
NM_001035.3(RYR2):c.11476+9G>A
|
rs1019749781
|
|
|
NM_001035.3(RYR2):c.11477-8T>C
|
|
|
|
NM_001035.3(RYR2):c.11505C>T (p.Phe3835=)
|
|
|
|
NM_001035.3(RYR2):c.11508C>T (p.Thr3836=)
|
|
|
|
NM_001035.3(RYR2):c.11557+11C>T
|
rs1354704411
|
|
|
NM_001035.3(RYR2):c.11557+17A>T
|
|
|
|
NM_001035.3(RYR2):c.11558-17T>G
|
|
|
|
NM_001035.3(RYR2):c.11558-18T>G
|
|
|
|
NM_001035.3(RYR2):c.11558-19A>G
|
|
|
|
NM_001035.3(RYR2):c.11558-19A>T
|
rs2149314406
|
|
|
NM_001035.3(RYR2):c.11558-4A>C
|
|
|
|
NM_001035.3(RYR2):c.11558-4del
|
rs2149314509
|
|
|
NM_001035.3(RYR2):c.11589C>T (p.Gly3863=)
|
|
|
|
NM_001035.3(RYR2):c.11604C>G (p.Val3868=)
|
|
|
|
NM_001035.3(RYR2):c.11643T>G (p.Val3881=)
|
rs1558381908
|
|
|
NM_001035.3(RYR2):c.11646+17A>G
|
|
|
|
NM_001035.3(RYR2):c.11646+19T>G
|
|
|
|
NM_001035.3(RYR2):c.11646+7T>G
|
rs2149314843
|
|
|
NM_001035.3(RYR2):c.11646+8G>A
|
|
|
|
NM_001035.3(RYR2):c.11646+8G>T
|
|
|
|
NM_001035.3(RYR2):c.11646+9C>A
|
rs2149314865
|
|
|
NM_001035.3(RYR2):c.11647-15_11647-13del
|
|
|
|
NM_001035.3(RYR2):c.11647-16C>T
|
|
|
|
NM_001035.3(RYR2):c.11647-7T>C
|
rs771126125
|
|
|
NM_001035.3(RYR2):c.11647-9A>G
|
|
|
|
NM_001035.3(RYR2):c.11655T>C (p.Ile3885=)
|
rs2149319005
|
|
|
NM_001035.3(RYR2):c.11661C>T (p.Asp3887=)
|
rs759576710
|
|
|
NM_001035.3(RYR2):c.11676C>T (p.Tyr3892=)
|
rs1168445245
|
|
|
NM_001035.3(RYR2):c.11688T>C (p.Asp3896=)
|
|
|
|
NM_001035.3(RYR2):c.1170+16A>G
|
|
|
|
NM_001035.3(RYR2):c.1170+19A>T
|
rs1707901143
|
|
|
NM_001035.3(RYR2):c.1171-12G>A
|
|
|
|
NM_001035.3(RYR2):c.1171-18A>C
|
|
|
|
NM_001035.3(RYR2):c.1171-18A>G
|
|
|
|
NM_001035.3(RYR2):c.1171-18del
|
|
|
|
NM_001035.3(RYR2):c.11757T>C (p.Thr3919=)
|
rs1694434380
|
|
|
NM_001035.3(RYR2):c.11760T>A (p.Leu3920=)
|
|
|
|
NM_001035.3(RYR2):c.11760T>C (p.Leu3920=)
|
|
|
|
NM_001035.3(RYR2):c.11775+9T>C
|
|
|
|
NM_001035.3(RYR2):c.11776-13G>T
|
|
|
|
NM_001035.3(RYR2):c.11776-17G>A
|
|
|
|
NM_001035.3(RYR2):c.11776-17G>T
|
|
|
|
NM_001035.3(RYR2):c.11776-18T>G
|
rs746044321
|
|
|
NM_001035.3(RYR2):c.11776-7G>A
|
|
|
|
NM_001035.3(RYR2):c.11776-9A>G
|
|
|
|
NM_001035.3(RYR2):c.11778T>G (p.Gly3926=)
|
rs2149335282
|
|
|
NM_001035.3(RYR2):c.11784C>T (p.Cys3928=)
|
rs764651068
|
|
|
NM_001035.3(RYR2):c.11787T>C (p.Thr3929=)
|
|
|
|
NM_001035.3(RYR2):c.11808A>C (p.Ala3936=)
|
|
|
|
NM_001035.3(RYR2):c.11877G>T (p.Ser3959=)
|
rs754610647
|
|
|
NM_001035.3(RYR2):c.11880+11T>C
|
|
|
|
NM_001035.3(RYR2):c.11880+14C>G
|
|
|
|
NM_001035.3(RYR2):c.11880+14C>T
|
rs756052547
|
|
|
NM_001035.3(RYR2):c.11880+4AACT[2]
|
rs773240729
|
|
|
NM_001035.3(RYR2):c.11880+4AACT[4]
|
rs773240729
|
|
|
NM_001035.3(RYR2):c.11881-10A>G
|
rs1573922749
|
|
|
NM_001035.3(RYR2):c.1188A>G (p.Glu396=)
|
rs2150166045
|
|
|
NM_001035.3(RYR2):c.11901A>C (p.Leu3967=)
|
rs2149344840
|
|
|
NM_001035.3(RYR2):c.11911T>C (p.Leu3971=)
|
rs1393069119
|
|
|
NM_001035.3(RYR2):c.11937G>A (p.Val3979=)
|
|
|
|
NM_001035.3(RYR2):c.11940C>T (p.Val3980=)
|
|
|
|
NM_001035.3(RYR2):c.1194C>T (p.His398=)
|
rs794728816
|
|
|
NM_001035.3(RYR2):c.11962+12T>G
|
|
|
|
NM_001035.3(RYR2):c.11962+13del
|
|
|
|
NM_001035.3(RYR2):c.11962+15T>C
|
|
|
|
NM_001035.3(RYR2):c.11962+20T>C
|
|
|
|
NM_001035.3(RYR2):c.11962+20_11962+21del
|
|
|
|
NM_001035.3(RYR2):c.11962+9_11962+13dup
|
rs764190942
|
|
|
NM_001035.3(RYR2):c.11963-11T>G
|
rs790889
|
|
|
NM_001035.3(RYR2):c.11963-19G>A
|
|
|
|
NM_001035.3(RYR2):c.11964T>A (p.Gly3988=)
|
|
|
|
NM_001035.3(RYR2):c.12000G>A (p.Val4000=)
|
|
|
|
NM_001035.3(RYR2):c.12042C>G (p.Leu4014=)
|
|
|
|
NM_001035.3(RYR2):c.12045A>G (p.Lys4015=)
|
|
|
|
NM_001035.3(RYR2):c.12081G>A (p.Thr4027=)
|
rs1695321287
|
|
|
NM_001035.3(RYR2):c.12093T>G (p.Thr4031=)
|
|
|
|
NM_001035.3(RYR2):c.12117C>G (p.Gly4039=)
|
|
|
|
NM_001035.3(RYR2):c.12138G>A (p.Arg4046=)
|
rs2149352520
|
|
|
NM_001035.3(RYR2):c.12141C>T (p.Asp4047=)
|
rs1232796204
|
|
|
NM_001035.3(RYR2):c.1218G>C (p.Ser406=)
|
rs147389346
|
|
|
NM_001035.3(RYR2):c.1219A>C (p.Arg407=)
|
rs1382123934
|
|
|
NM_001035.3(RYR2):c.12216G>A (p.Thr4072=)
|
|
|
|
NM_001035.3(RYR2):c.12225T>C (p.Asn4075=)
|
rs2149352904
|
|
|
NM_001035.3(RYR2):c.12231C>A (p.Thr4077=)
|
rs1325431679
|
|
|
NM_001035.3(RYR2):c.12240C>T (p.Tyr4080=)
|
rs1335612184
|
|
|
NM_001035.3(RYR2):c.12243A>G (p.Glu4081=)
|
rs766202701
|
|
|
NM_001035.3(RYR2):c.12249C>T (p.Phe4083=)
|
rs371599450
|
|
|
NM_001035.3(RYR2):c.12258C>T (p.Arg4086=)
|
rs2149353086
|
|
|
NM_001035.3(RYR2):c.12264C>T (p.His4088=)
|
rs1558404698
|
|
|
NM_001035.3(RYR2):c.12273G>C (p.Ala4091=)
|
rs966083978
|
|
|
NM_001035.3(RYR2):c.12282C>A (p.Ile4094=)
|
|
|
|
NM_001035.3(RYR2):c.12354T>C (p.Phe4118=)
|
|
|
|
NM_001035.3(RYR2):c.12357G>A (p.Leu4119=)
|
rs2149353502
|
|
|
NM_001035.3(RYR2):c.1236A>G (p.Glu412=)
|
rs2150166360
|
|
|
NM_001035.3(RYR2):c.12372C>T (p.Ser4124=)
|
rs771994461
|
|
|
NM_001035.3(RYR2):c.12375C>G (p.Val4125=)
|
rs1434635546
|
|
|
NM_001035.3(RYR2):c.12376C>T (p.Leu4126=)
|
|
|
|
NM_001035.3(RYR2):c.12402C>A (p.Gly4134=)
|
rs2149353678
|
|
|
NM_001035.3(RYR2):c.12408C>T (p.Ile4136=)
|
rs1294331175
|
|
|
NM_001035.3(RYR2):c.12423C>T (p.Ser4141=)
|
|
|
|
NM_001035.3(RYR2):c.1242C>T (p.Arg414=)
|
|
|
|
NM_001035.3(RYR2):c.1243A>G (p.Thr415Ala)
|
rs545357663
|
|
|
NM_001035.3(RYR2):c.12447T>C (p.Tyr4149=)
|
rs2149353878
|
|
|
NM_001035.3(RYR2):c.12468C>T (p.Ser4156=)
|
|
|
|
NM_001035.3(RYR2):c.12525C>T (p.Asp4175=)
|
rs1347472531
|
|
|
NM_001035.3(RYR2):c.12534C>T (p.Asn4178=)
|
|
|
|
NM_001035.3(RYR2):c.12588C>T (p.Thr4196=)
|
|
|
|
NM_001035.3(RYR2):c.1258C>A (p.Arg420=)
|
rs190140598
|
|
|
NM_001035.3(RYR2):c.12606G>A (p.Leu4202=)
|
rs2149354452
|
|
|
NM_001035.3(RYR2):c.12609G>A (p.Ala4203=)
|
rs372943408
|
|
|
NM_001035.3(RYR2):c.12612T>C (p.Ala4204=)
|
|
|
|
NM_001035.3(RYR2):c.12636C>T (p.Asn4212=)
|
|
|
|
NM_001035.3(RYR2):c.1263C>T (p.Ser421=)
|
|
|
|
NM_001035.3(RYR2):c.12647C>T (p.Ala4216Val)
|
|
|
|
NM_001035.3(RYR2):c.12660A>G (p.Glu4220=)
|
rs1323430299
|
|
|
NM_001035.3(RYR2):c.12666G>A (p.Glu4222=)
|
rs1573935771
|
|
|
NM_001035.3(RYR2):c.1266A>G (p.Thr422=)
|
rs928759971
|
|
|
NM_001035.3(RYR2):c.12678G>A (p.Pro4226=)
|
|
|
|
NM_001035.3(RYR2):c.12678G>T (p.Pro4226=)
|
rs768348987
|
|
|
NM_001035.3(RYR2):c.12708C>T (p.Phe4236=)
|
rs2149354917
|
|
|
NM_001035.3(RYR2):c.12711C>T (p.Ser4237=)
|
rs1412516019
|
|
|
NM_001035.3(RYR2):c.12717G>C (p.Leu4239=)
|
|
|
|
NM_001035.3(RYR2):c.12735G>A (p.Leu4245=)
|
|
|
|
NM_001035.3(RYR2):c.12741G>A (p.Ala4247=)
|
rs753089069
|
|
|
NM_001035.3(RYR2):c.12750C>T (p.Tyr4250=)
|
rs2149355086
|
|
|
NM_001035.3(RYR2):c.12753T>C (p.Asn4251=)
|
|
|
|
NM_001035.3(RYR2):c.12759G>A (p.Leu4253=)
|
rs2149355131
|
|
|
NM_001035.3(RYR2):c.12777C>T (p.Leu4259=)
|
|
|
|
NM_001035.3(RYR2):c.12780T>C (p.Ser4260=)
|
|
|
|
NM_001035.3(RYR2):c.12792G>A (p.Leu4264=)
|
rs749454470
|
|
|
NM_001035.3(RYR2):c.12795G>A (p.Lys4265=)
|
rs1695389411
|
|
|
NM_001035.3(RYR2):c.12800A>G (p.Gln4267Arg)
|
|
|
|
NM_001035.3(RYR2):c.12801G>A (p.Gln4267=)
|
|
|
|
NM_001035.3(RYR2):c.12811G>A (p.Val4271Ile)
|
|
|
|
NM_001035.3(RYR2):c.1281T>C (p.Asn427=)
|
rs375691875
|
|
|
NM_001035.3(RYR2):c.12843G>T (p.Thr4281=)
|
|
|
|
NM_001035.3(RYR2):c.12845C>T (p.Ala4282Val)
|
|
|
|
NM_001035.3(RYR2):c.12846C>G (p.Ala4282=)
|
|
|
|
NM_001035.3(RYR2):c.12861C>T (p.Tyr4287=)
|
|
|
|
NM_001035.3(RYR2):c.12883T>C (p.Leu4295=)
|
|
|
|
NM_001035.3(RYR2):c.1292+10C>A
|
|
|
|
NM_001035.3(RYR2):c.1292+15G>A
|
|
|
|
NM_001035.3(RYR2):c.1292+16T>C
|
rs2150166881
|
|
|
NM_001035.3(RYR2):c.1292+7T>G
|
rs1572362013
|
|
|
NM_001035.3(RYR2):c.1293-13T>C
|
|
|
|
NM_001035.3(RYR2):c.1293-14A>T
|
rs752527636
|
|
|
NM_001035.3(RYR2):c.1293-18G>A
|
rs1572400333
|
|
|
NM_001035.3(RYR2):c.1293-6T>C
|
rs756239888
|
|
|
NM_001035.3(RYR2):c.12934C>T (p.Leu4312=)
|
|
|
|
NM_001035.3(RYR2):c.12936G>A (p.Leu4312=)
|
rs2149355823
|
|
|
NM_001035.3(RYR2):c.12939G>C (p.Leu4313=)
|
rs893697261
|
|
|
NM_001035.3(RYR2):c.1293G>A (p.Arg431=)
|
rs1658550441
|
|
|
NM_001035.3(RYR2):c.12966T>A (p.Ala4322=)
|
|
|
|
NM_001035.3(RYR2):c.1296C>T (p.Gly432=)
|
rs184176405
|
|
|
NM_001035.3(RYR2):c.12990G>T (p.Leu4330=)
|
rs1558407591
|
|
|
NM_001035.3(RYR2):c.13023G>A (p.Glu4341=)
|
rs2149356131
|
|
|
NM_001035.3(RYR2):c.13047A>G (p.Gly4349=)
|
rs2149356229
|
|
|
NM_001035.3(RYR2):c.13065A>G (p.Glu4355=)
|
rs1695412040
|
|
|
NM_001035.3(RYR2):c.13072C>T (p.Leu4358=)
|
|
|
|
NM_001035.3(RYR2):c.13077C>T (p.Pro4359=)
|
rs1695413897
|
|
|
NM_001035.3(RYR2):c.13080C>G (p.Ser4360=)
|
rs369964660
|
|
|
NM_001035.3(RYR2):c.13092C>T (p.Thr4364=)
|
|
|
|
NM_001035.3(RYR2):c.13098A>G (p.Leu4366=)
|
rs2149356435
|
|
|
NM_001035.3(RYR2):c.13101G>A (p.Lys4367=)
|
|
|
|
NM_001035.3(RYR2):c.13131G>A (p.Ser4377=)
|
|
|
|
NM_001035.3(RYR2):c.13134C>T (p.Asp4378=)
|
|
|
|
NM_001035.3(RYR2):c.1314G>A (p.Lys438=)
|
rs2150216878
|
|
|
NM_001035.3(RYR2):c.13156A>C (p.Arg4386=)
|
|
|
|
NM_001035.3(RYR2):c.13167A>G (p.Gly4389=)
|
rs878854152
|
|
|
NM_001035.3(RYR2):c.13173C>T (p.Tyr4391=)
|
|
|
|
NM_001035.3(RYR2):c.13209T>C (p.Ser4403=)
|
|
|
|
NM_001035.3(RYR2):c.1320G>C (p.Ala440=)
|
rs887478410
|
|
|
NM_001035.3(RYR2):c.13233C>T (p.Pro4411=)
|
rs770195281
|
|
|
NM_001035.3(RYR2):c.13239T>C (p.Pro4413=)
|
|
|
|
NM_001035.3(RYR2):c.1323G>A (p.Lys441=)
|
|
|
|
NM_001035.3(RYR2):c.13260+10C>T
|
rs1695431070
|
|
|
NM_001035.3(RYR2):c.13260+18C>T
|
|
|
|
NM_001035.3(RYR2):c.13260+19dup
|
rs2149357145
|
|
|
NM_001035.3(RYR2):c.13260+3_13260+6dup
|
rs1553323690
|
|
|
NM_001035.3(RYR2):c.13261-10C>T
|
|
|
|
NM_001035.3(RYR2):c.13261-6T>C
|
|
|
|
NM_001035.3(RYR2):c.13269G>A (p.Lys4423=)
|
rs1695515888
|
|
|
NM_001035.3(RYR2):c.1326T>G (p.Ala442=)
|
|
|
|
NM_001035.3(RYR2):c.13328+14G>T
|
|
|
|
NM_001035.3(RYR2):c.13328+15C>A
|
|
|
|
NM_001035.3(RYR2):c.13328+15C>T
|
|
|
|
NM_001035.3(RYR2):c.13329-10G>T
|
|
|
|
NM_001035.3(RYR2):c.13329-14del
|
|
|
|
NM_001035.3(RYR2):c.13329-19T>C
|
|
|
|
NM_001035.3(RYR2):c.13329-20T>G
|
|
|
|
NM_001035.3(RYR2):c.13329-6T>C
|
|
|
|
NM_001035.3(RYR2):c.13350A>G (p.Glu4450=)
|
rs1657867796
|
|
|
NM_001035.3(RYR2):c.13368C>T (p.Asp4456=)
|
rs1573952064
|
|
|
NM_001035.3(RYR2):c.13371G>T (p.Lys4457Asn)
|
rs769311004
|
|
|
NM_001035.3(RYR2):c.13380A>G (p.Gln4460=)
|
|
|
|
NM_001035.3(RYR2):c.13424T>A (p.Val4475Glu)
|
rs1347737490
|
|
|
NM_001035.3(RYR2):c.13428A>C (p.Pro4476=)
|
rs1057522551
|
|
|
NM_001035.3(RYR2):c.13428A>G (p.Pro4476=)
|
|
|
|
NM_001035.3(RYR2):c.1342C>G (p.Pro448Ala)
|
rs369933531
|
|
|
NM_001035.3(RYR2):c.1344T>C (p.Pro448=)
|
rs772076225
|
|
|
NM_001035.3(RYR2):c.13458A>T (p.Ala4486=)
|
rs1657881375
|
|
|
NM_001035.3(RYR2):c.13476+8_13476+11dup
|
rs864309562
|
|
|
NM_001035.3(RYR2):c.13476+9T>C
|
|
|
|
NM_001035.3(RYR2):c.13494C>T (p.Asn4498=)
|
|
|
|
NM_001035.3(RYR2):c.13530A>C (p.Ala4510=)
|
|
|
|
NM_001035.3(RYR2):c.13530A>G (p.Ala4510=)
|
rs755775674
|
|
|
NM_001035.3(RYR2):c.13554C>G (p.Leu4518=)
|
|
|
|
NM_001035.3(RYR2):c.13560T>C (p.Tyr4520=)
|
rs963715446
|
|
|
NM_001035.3(RYR2):c.13563+17G>C
|
rs2149379306
|
|
|
NM_001035.3(RYR2):c.13563+18T>C
|
|
|
|
NM_001035.3(RYR2):c.13564-18T>C
|
|
|
|
NM_001035.3(RYR2):c.13564-19T>C
|
|
|
|
NM_001035.3(RYR2):c.13575T>C (p.Ser4525=)
|
|
|
|
NM_001035.3(RYR2):c.13605G>A (p.Thr4535=)
|
rs1573967641
|
|
|
NM_001035.3(RYR2):c.13627A>G (p.Lys4543Glu)
|
rs745869007
|
|
|
NM_001035.3(RYR2):c.1362A>C (p.Leu454=)
|
|
|
|
NM_001035.3(RYR2):c.13639C>T (p.Leu4547=)
|
rs1487806159
|
|
|
NM_001035.3(RYR2):c.13677T>C (p.Tyr4559=)
|
rs1658459675
|
|
|
NM_001035.3(RYR2):c.13689G>A (p.Glu4563=)
|
rs886039157
|
|
|
NM_001035.3(RYR2):c.13707G>A (p.Glu4569=)
|
rs1303471745
|
|
|
NM_001035.3(RYR2):c.13710C>A (p.Pro4570=)
|
|
|
|
NM_001035.3(RYR2):c.13713G>A (p.Thr4571=)
|
rs761552358
|
|
|
NM_001035.3(RYR2):c.13731T>C (p.Ile4577=)
|
rs1424050366
|
|
|
NM_001035.3(RYR2):c.13740G>T (p.Thr4580=)
|
rs115854664
|
|
|
NM_001035.3(RYR2):c.13770C>T (p.Tyr4590=)
|
rs1260477367
|
|
|
NM_001035.3(RYR2):c.13782+10_13782+13del
|
rs775418111
|
|
|
NM_001035.3(RYR2):c.13782+17C>T
|
|
|
|
NM_001035.3(RYR2):c.13782+18C>A
|
|
|
|
NM_001035.3(RYR2):c.13782+18C>T
|
|
|
|
NM_001035.3(RYR2):c.13782+7T>G
|
rs1558424783
|
|
|
NM_001035.3(RYR2):c.13782+9G>C
|
rs1553327181
|
|
|
NM_001035.3(RYR2):c.13783-18T>C
|
|
|
|
NM_001035.3(RYR2):c.13783-6A>C
|
rs790901
|
|
|
NM_001035.3(RYR2):c.13783-6A>T
|
rs790901
|
|
|
NM_001035.3(RYR2):c.13783-7_13783-6delinsCG
|
rs1658754384
|
|
|
NM_001035.3(RYR2):c.13783-9C>T
|
|
|
|
NM_001035.3(RYR2):c.13789T>C (p.Leu4597=)
|
rs1253011897
|
|
|
NM_001035.3(RYR2):c.13824G>A (p.Arg4608=)
|
rs1658761246
|
|
|
NM_001035.3(RYR2):c.13824G>C (p.Arg4608=)
|
rs1658761246
|
|
|
NM_001035.3(RYR2):c.13830G>A (p.Leu4610=)
|
rs1311002036
|
|
|
NM_001035.3(RYR2):c.13848T>C (p.Tyr4616=)
|
rs2149388170
|
|
|
NM_001035.3(RYR2):c.13854A>C (p.Thr4618=)
|
|
|
|
NM_001035.3(RYR2):c.13875T>C (p.Asp4625=)
|
|
|
|
NM_001035.3(RYR2):c.13899C>T (p.Leu4633=)
|
rs1057523875
|
|
|
NM_001035.3(RYR2):c.1389C>T (p.Phe463=)
|
rs781378149
|
|
|
NM_001035.3(RYR2):c.13913+19G>A
|
|
|
|
NM_001035.3(RYR2):c.13913+20A>G
|
|
|
|
NM_001035.3(RYR2):c.13914-11G>C
|
|
|
|
NM_001035.3(RYR2):c.13914-16del
|
|
|
|
NM_001035.3(RYR2):c.13914-4T>C
|
|
|
|
NM_001035.3(RYR2):c.13926C>T (p.Asn4642=)
|
rs2149392499
|
|
|
NM_001035.3(RYR2):c.13956+13G>A
|
rs759555189
|
|
|
NM_001035.3(RYR2):c.13957-7C>T
|
rs1659470496
|
|
|
NM_001035.3(RYR2):c.1395C>A (p.Pro465=)
|
rs111990043
|
|
|
NM_001035.3(RYR2):c.1395C>G (p.Pro465=)
|
rs111990043
|
|
|
NM_001035.3(RYR2):c.1395C>T (p.Pro465=)
|
|
|
|
NM_001035.3(RYR2):c.13989A>G (p.Arg4663=)
|
rs2149404155
|
|
|
NM_001035.3(RYR2):c.14013C>A (p.Gly4671=)
|
rs1416459319
|
|
|
NM_001035.3(RYR2):c.14028T>C (p.Ala4676=)
|
|
|
|
NM_001035.3(RYR2):c.14043T>C (p.Asp4681=)
|
rs1659489574
|
|
|
NM_001035.3(RYR2):c.1405C>G (p.His469Asp)
|
|
|
|
NM_001035.3(RYR2):c.14064A>C (p.Pro4688=)
|
rs2149404496
|
|
|
NM_001035.3(RYR2):c.14076C>T (p.Ser4692=)
|
|
|
|
NM_001035.3(RYR2):c.14090+11C>T
|
rs2149404729
|
|
|
NM_001035.3(RYR2):c.14090+16G>A
|
|
|
|
NM_001035.3(RYR2):c.14090+16dup
|
|
|
|
NM_001035.3(RYR2):c.14090+17C>T
|
rs1397472913
|
|
|
NM_001035.3(RYR2):c.14091-10G>T
|
rs199569629
|
|
|
NM_001035.3(RYR2):c.14091-18T>A
|
|
|
|
NM_001035.3(RYR2):c.14091-20T>A
|
|
|
|
NM_001035.3(RYR2):c.14091-20T>G
|
|
|
|
NM_001035.3(RYR2):c.14091-4G>A
|
rs1380406964
|
|
|
NM_001035.3(RYR2):c.14094G>T (p.Leu4698=)
|
rs2149419480
|
|
|
NM_001035.3(RYR2):c.14133A>G (p.Gly4711=)
|
rs1487075001
|
|
|
NM_001035.3(RYR2):c.14136C>A (p.Val4712=)
|
rs756435572
|
|
|
NM_001035.3(RYR2):c.14136C>T (p.Val4712=)
|
rs756435572
|
|
|
NM_001035.3(RYR2):c.14139T>C (p.Val4713=)
|
rs2149419643
|
|
|
NM_001035.3(RYR2):c.14148C>T (p.Asp4716=)
|
|
|
|
NM_001035.3(RYR2):c.14151+10C>G
|
rs2149419733
|
|
|
NM_001035.3(RYR2):c.14151+12T>A
|
rs2149419743
|
|
|
NM_001035.3(RYR2):c.14151+18T>A
|
|
|
|
NM_001035.3(RYR2):c.14152-13T>C
|
rs2149437375
|
|
|
NM_001035.3(RYR2):c.14152-16C>G
|
rs764414769
|
|
|
NM_001035.3(RYR2):c.14152-16C>T
|
rs764414769
|
|
|
NM_001035.3(RYR2):c.14152-18C>T
|
|
|
|
NM_001035.3(RYR2):c.14152-20C>A
|
rs2149437341
|
|
|
NM_001035.3(RYR2):c.14164C>T (p.Leu4722=)
|
rs2149437433
|
|
|
NM_001035.3(RYR2):c.14169C>T (p.Ala4723=)
|
rs1222318801
|
|
|
NM_001035.3(RYR2):c.14181T>A (p.Thr4727=)
|
|
|
|
NM_001035.3(RYR2):c.14196A>T (p.Gly4732=)
|
rs2149437535
|
|
|
NM_001035.3(RYR2):c.14199C>T (p.His4733=)
|
|
|
|
NM_001035.3(RYR2):c.14232C>T (p.Leu4744=)
|
rs777371415
|
|
|
NM_001035.3(RYR2):c.14241T>C (p.Ala4747=)
|
rs769753371
|
|
|
NM_001035.3(RYR2):c.14250C>T (p.Phe4750=)
|
|
|
|
NM_001035.3(RYR2):c.14259A>G (p.Leu4753=)
|
rs1660620758
|
|
|
NM_001035.3(RYR2):c.14265C>G (p.Thr4755=)
|
rs2149437750
|
|
|
NM_001035.3(RYR2):c.14265C>T (p.Thr4755=)
|
rs2149437750
|
|
|
NM_001035.3(RYR2):c.14271G>A (p.Leu4757=)
|
rs2149437767
|
|
|
NM_001035.3(RYR2):c.14274C>T (p.Ser4758=)
|
rs2149437784
|
|
|
NM_001035.3(RYR2):c.14292C>G (p.Gly4764=)
|
rs1660622870
|
|
|
NM_001035.3(RYR2):c.14298+10T>G
|
rs377240284
|
|
|
NM_001035.3(RYR2):c.14298+14C>A
|
|
|
|
NM_001035.3(RYR2):c.14298+18T>G
|
|
|
|
NM_001035.3(RYR2):c.14298+20C>G
|
|
|
|
NM_001035.3(RYR2):c.14298+9T>C
|
|
|
|
NM_001035.3(RYR2):c.14299-9G>A
|
rs1660957267
|
|
|
NM_001035.3(RYR2):c.14316C>T (p.Gly4772=)
|
rs2149446388
|
|
|
NM_001035.3(RYR2):c.14319A>G (p.Leu4773=)
|
|
|
|
NM_001035.3(RYR2):c.1431C>T (p.Asn477=)
|
rs1225809471
|
|
|
NM_001035.3(RYR2):c.14338C>T (p.Leu4780=)
|
rs764103963
|
|
|
NM_001035.3(RYR2):c.14346T>C (p.Thr4782=)
|
rs1660962830
|
|
|
NM_001035.3(RYR2):c.14388T>C (p.Ser4796=)
|
rs2149446615
|
|
|
NM_001035.3(RYR2):c.14434-15A>G
|
|
|
|
NM_001035.3(RYR2):c.14434-15A>T
|
rs1414554358
|
|
|
NM_001035.3(RYR2):c.14434-17C>G
|
|
|
|
NM_001035.3(RYR2):c.14434-5T>C
|
rs2102824382
|
|
|
NM_001035.3(RYR2):c.14439T>C (p.Tyr4813=)
|
rs2102824544
|
|
|
NM_001035.3(RYR2):c.14475A>T (p.Gly4825=)
|
|
|
|
NM_001035.3(RYR2):c.14493C>A (p.Ile4831=)
|
|
|
|
NM_001035.3(RYR2):c.14511T>C (p.Asp4837=)
|
rs2102825210
|
|
|
NM_001035.3(RYR2):c.14527C>A (p.Arg4843=)
|
rs1553339074
|
|
|
NM_001035.3(RYR2):c.14553C>T (p.Phe4851=)
|
|
|
|
NM_001035.3(RYR2):c.1455G>A (p.Arg485=)
|
rs2150218150
|
|
|
NM_001035.3(RYR2):c.14590+13_14590+15del
|
|
|
|
NM_001035.3(RYR2):c.14590+15C>T
|
rs2102826245
|
|
|
NM_001035.3(RYR2):c.14590+19G>A
|
|
|
|
NM_001035.3(RYR2):c.14590+7A>C
|
rs1553339087
|
|
|
NM_001035.3(RYR2):c.14590+7A>G
|
rs1553339087
|
|
|
NM_001035.3(RYR2):c.14591-13T>G
|
rs1663397019
|
|
|
NM_001035.3(RYR2):c.14591-16T>G
|
|
|
|
NM_001035.3(RYR2):c.14591-20G>A
|
|
|
|
NM_001035.3(RYR2):c.14591-5A>G
|
rs1663397881
|
|
|
NM_001035.3(RYR2):c.14591-9del
|
rs876657987
|
|
|
NM_001035.3(RYR2):c.14592T>C (p.Gly4864=)
|
rs774554572
|
|
|
NM_001035.3(RYR2):c.14592T>G (p.Gly4864=)
|
rs774554572
|
|
|
NM_001035.3(RYR2):c.14617C>T (p.Leu4873=)
|
rs1663400290
|
|
|
NM_001035.3(RYR2):c.14634A>G (p.Glu4878=)
|
|
|
|
NM_001035.3(RYR2):c.14637A>G (p.Gln4879=)
|
rs1553341953
|
|
|
NM_001035.3(RYR2):c.14655+13A>G
|
|
|
|
NM_001035.3(RYR2):c.14655+19G>A
|
|
|
|
NM_001035.3(RYR2):c.14655+7T>C
|
|
|
|
NM_001035.3(RYR2):c.14656-13C>A
|
rs1663654908
|
|
|
NM_001035.3(RYR2):c.14656-14C>G
|
|
|
|
NM_001035.3(RYR2):c.14656-19A>G
|
|
|
|
NM_001035.3(RYR2):c.14656-6T>C
|
rs2102946547
|
|
|
NM_001035.3(RYR2):c.14676G>A (p.Gly4892=)
|
|
|
|
NM_001035.3(RYR2):c.14685T>C (p.Asn4895=)
|
rs2102946919
|
|
|
NM_001035.3(RYR2):c.14700A>C (p.Thr4900=)
|
|
|
|
NM_001035.3(RYR2):c.1470G>A (p.Gln490=)
|
rs752945105
|
|
|
NM_001035.3(RYR2):c.14727T>A (p.Thr4909=)
|
rs1663663783
|
|
|
NM_001035.3(RYR2):c.14730A>G (p.Leu4910=)
|
rs1553342510
|
|
|
NM_001035.3(RYR2):c.14736G>A (p.Glu4912=)
|
|
|
|
NM_001035.3(RYR2):c.14739C>T (p.His4913=)
|
rs767291905
|
|
|
NM_001035.3(RYR2):c.14756+12C>A
|
rs2275693
|
|
|
NM_001035.3(RYR2):c.14756+13G>A
|
|
|
|
NM_001035.3(RYR2):c.14756+14T>C
|
|
|
|
NM_001035.3(RYR2):c.14756+7G>T
|
|
|
|
NM_001035.3(RYR2):c.14756+8T>A
|
rs2102947779
|
|
|
NM_001035.3(RYR2):c.14757-10G>T
|
|
|
|
NM_001035.3(RYR2):c.14757-14C>G
|
|
|
|
NM_001035.3(RYR2):c.14757-18G>A
|
rs375553165
|
|
|
NM_001035.3(RYR2):c.14757-20C>G
|
|
|
|
NM_001035.3(RYR2):c.14757-7_14757-6delinsAT
|
rs727504630
|
|
|
NM_001035.3(RYR2):c.14757-8A>G
|
|
|
|
NM_001035.3(RYR2):c.1476+20C>T
|
|
|
|
NM_001035.3(RYR2):c.1477-13T>G
|
|
|
|
NM_001035.3(RYR2):c.1477-15_1477-14insC
|
|
|
|
NM_001035.3(RYR2):c.1477-7G>T
|
rs763127313
|
|
|
NM_001035.3(RYR2):c.14778A>C (p.Ile4926=)
|
|
|
|
NM_001035.3(RYR2):c.14808+17A>G
|
|
|
|
NM_001035.3(RYR2):c.14809-14C>T
|
|
|
|
NM_001035.3(RYR2):c.14809-14del
|
|
|
|
NM_001035.3(RYR2):c.14809-16del
|
rs769123824
|
|
|
NM_001035.3(RYR2):c.14809-4G>A
|
rs1574134275
|
|
|
NM_001035.3(RYR2):c.14895G>A (p.Gln4965=)
|
rs770551852
|
|
|
NM_001035.3(RYR2):c.14898A>T (p.Leu4966=)
|
|
|
|
NM_001035.3(RYR2):c.1503C>T (p.Cys501=)
|
rs1451394775
|
|
|
NM_001035.3(RYR2):c.1539C>T (p.His513=)
|
rs1303496576
|
|
|
NM_001035.3(RYR2):c.1554T>C (p.Ala518=)
|
rs2150229564
|
|
|
NM_001035.3(RYR2):c.1558C>A (p.Arg520=)
|
rs749567039
|
|
|
NM_001035.3(RYR2):c.1566A>T (p.Ala522=)
|
rs1658864720
|
|
|
NM_001035.3(RYR2):c.1581A>G (p.Lys527=)
|
|
|
|
NM_001035.3(RYR2):c.1596T>C (p.Ser532=)
|
rs796950414
|
|
|
NM_001035.3(RYR2):c.1599G>A (p.Leu533=)
|
|
|
|
NM_001035.3(RYR2):c.1605G>A (p.Glu535=)
|
rs2150229955
|
|
|
NM_001035.3(RYR2):c.1612+13A>T
|
|
|
|
NM_001035.3(RYR2):c.1612+13_1612+14delinsGC
|
rs1064795529
|
|
|
NM_001035.3(RYR2):c.1612+18G>T
|
|
|
|
NM_001035.3(RYR2):c.1612+8G>C
|
rs375122829
|
|
|
NM_001035.3(RYR2):c.1612+9C>T
|
|
|
|
NM_001035.3(RYR2):c.1613-18C>G
|
|
|
|
NM_001035.3(RYR2):c.1613-20A>G
|
|
|
|
NM_001035.3(RYR2):c.1613-4G>C
|
rs1553462847
|
|
|
NM_001035.3(RYR2):c.1613-9C>G
|
|
|
|
NM_001035.3(RYR2):c.1647T>C (p.Ala549=)
|
rs1553462870
|
|
|
NM_001035.3(RYR2):c.1656T>C (p.Ser552=)
|
rs780295728
|
|
|
NM_001035.3(RYR2):c.1659C>T (p.Gly553=)
|
rs2150301358
|
|
|
NM_001035.3(RYR2):c.1665C>G (p.Leu555=)
|
rs371262363
|
|
|
NM_001035.3(RYR2):c.168+14T>G
|
|
|
|
NM_001035.3(RYR2):c.168+17C>G
|
|
|
|
NM_001035.3(RYR2):c.1686G>A (p.Leu562=)
|
|
|
|
NM_001035.3(RYR2):c.169-15C>G
|
|
|
|
NM_001035.3(RYR2):c.169-19T>C
|
|
|
|
NM_001035.3(RYR2):c.169-8C>T
|
|
|
|
NM_001035.3(RYR2):c.1708+11T>C
|
|
|
|
NM_001035.3(RYR2):c.1709-12T>C
|
|
|
|
NM_001035.3(RYR2):c.1709-17_1709-14del
|
rs1064794455
|
|
|
NM_001035.3(RYR2):c.1709-8A>G
|
|
|
|
NM_001035.3(RYR2):c.1723T>C (p.Leu575=)
|
rs2150412869
|
|
|
NM_001035.3(RYR2):c.174G>A (p.Val58=)
|
|
|
|
NM_001035.3(RYR2):c.1758A>G (p.Leu586=)
|
rs1260289435
|
|
|
NM_001035.3(RYR2):c.1770A>G (p.Lys590=)
|
rs2150412988
|
|
|
NM_001035.3(RYR2):c.177C>G (p.Pro59=)
|
rs1274699222
|
|
|
NM_001035.3(RYR2):c.1824C>T (p.His608=)
|
rs2150413338
|
|
|
NM_001035.3(RYR2):c.1827+11T>C
|
|
|
|
NM_001035.3(RYR2):c.1827+9_1827+12del
|
rs2150413372
|
|
|
NM_001035.3(RYR2):c.1828-12T>A
|
|
|
|
NM_001035.3(RYR2):c.1828-17G>A
|
|
|
|
NM_001035.3(RYR2):c.1828-19A>G
|
|
|
|
NM_001035.3(RYR2):c.1828-8C>G
|
|
|
|
NM_001035.3(RYR2):c.1848A>C (p.Ser616=)
|
|
|
|
NM_001035.3(RYR2):c.1851C>T (p.Leu617=)
|
|
|
|
NM_001035.3(RYR2):c.1888C>A (p.His630Asn)
|
rs1195734687
|
|
|
NM_001035.3(RYR2):c.1908C>G (p.Leu636=)
|
|
|
|
NM_001035.3(RYR2):c.192C>T (p.Ile64=)
|
|
|
|
NM_001035.3(RYR2):c.1944T>C (p.Leu648=)
|
|
|
|
NM_001035.3(RYR2):c.1947G>A (p.Val649=)
|
rs1663593634
|
|
|
NM_001035.3(RYR2):c.1953T>C (p.His651=)
|
rs1663595328
|
|
|
NM_001035.3(RYR2):c.195C>T (p.Cys65=)
|
|
|
|
NM_001035.3(RYR2):c.1961+15A>G
|
|
|
|
NM_001035.3(RYR2):c.1961+16C>T
|
rs756259197
|
|
|
NM_001035.3(RYR2):c.1961+18A>G
|
|
|
|
NM_001035.3(RYR2):c.1962-7T>C
|
|
|
|
NM_001035.3(RYR2):c.1974T>C (p.Asn658=)
|
|
|
|
NM_001035.3(RYR2):c.2013G>A (p.Lys671=)
|
rs1192622030
|
|
|
NM_001035.3(RYR2):c.2016A>G (p.Lys672=)
|
|
|
|
NM_001035.3(RYR2):c.2028A>G (p.Glu676=)
|
|
|
|
NM_001035.3(RYR2):c.205C>T (p.Leu69=)
|
|
|
|
NM_001035.3(RYR2):c.2076C>T (p.His692=)
|
rs1282880190
|
|
|
NM_001035.3(RYR2):c.2094T>C (p.Ala698=)
|
rs1572596285
|
|
|
NM_001035.3(RYR2):c.2097C>T (p.Ser699=)
|
rs2150448554
|
|
|
NM_001035.3(RYR2):c.2109T>C (p.Tyr703=)
|
|
|
|
NM_001035.3(RYR2):c.210G>A (p.Glu70=)
|
|
|
|
NM_001035.3(RYR2):c.2118C>T (p.Tyr706=)
|
rs1431902945
|
|
|
NM_001035.3(RYR2):c.2145A>T (p.Gly715=)
|
rs764163453
|
|
|
NM_001035.3(RYR2):c.2148T>C (p.Asn716=)
|
rs1572596625
|
|
|
NM_001035.3(RYR2):c.2190T>C (p.Leu730=)
|
rs991873417
|
|
|
NM_001035.3(RYR2):c.21C>A (p.Gly7=)
|
|
|
|
NM_001035.3(RYR2):c.2204-10C>T
|
rs886046264
|
|
|
NM_001035.3(RYR2):c.2204-11C>A
|
|
|
|
NM_001035.3(RYR2):c.2204-14T>C
|
rs767973692
|
|
|
NM_001035.3(RYR2):c.2204-15T>C
|
rs1010022959
|
|
|
NM_001035.3(RYR2):c.2204-17dup
|
|
|
|
NM_001035.3(RYR2):c.2204-8C>T
|
|
|
|
NM_001035.3(RYR2):c.2217T>C (p.Arg739=)
|
|
|
|
NM_001035.3(RYR2):c.2220T>C (p.Thr740=)
|
|
|
|
NM_001035.3(RYR2):c.2253T>A (p.Thr751=)
|
|
|
|
NM_001035.3(RYR2):c.2301G>A (p.Ser767=)
|
rs117588730
|
|
|
NM_001035.3(RYR2):c.2301G>C (p.Ser767=)
|
|
|
|
NM_001035.3(RYR2):c.2328A>G (p.Gln776=)
|
|
|
|
NM_001035.3(RYR2):c.2331A>G (p.Gly777=)
|
|
|
|
NM_001035.3(RYR2):c.2349C>T (p.Asn783=)
|
rs749506479
|
|
|
NM_001035.3(RYR2):c.2367T>C (p.Phe789=)
|
|
|
|
NM_001035.3(RYR2):c.2373C>A (p.Val791=)
|
rs770431899
|
|
|
NM_001035.3(RYR2):c.2396+12T>A
|
rs876657576
|
|
|
NM_001035.3(RYR2):c.2396+12T>C
|
|
|
|
NM_001035.3(RYR2):c.2396+15G>A
|
|
|
|
NM_001035.3(RYR2):c.2396+7A>C
|
rs992293461
|
|
|
NM_001035.3(RYR2):c.2396+9G>A
|
|
|
|
NM_001035.3(RYR2):c.2396+9G>T
|
rs1572614163
|
|
|
NM_001035.3(RYR2):c.2397-11A>G
|
|
|
|
NM_001035.3(RYR2):c.2397-15G>A
|
|
|
|
NM_001035.3(RYR2):c.2397-20C>G
|
|
|
|
NM_001035.3(RYR2):c.2409G>A (p.Leu803=)
|
|
|
|
NM_001035.3(RYR2):c.2418G>A (p.Gly806=)
|
rs1572625120
|
|
|
NM_001035.3(RYR2):c.2449C>G (p.Pro817Ala)
|
rs780266883
|
|
|
NM_001035.3(RYR2):c.244C>T (p.Leu82=)
|
rs572934844
|
|
|
NM_001035.3(RYR2):c.2451T>G (p.Pro817=)
|
rs1664864797
|
|
|
NM_001035.3(RYR2):c.2454G>A (p.Gly818=)
|
rs769137517
|
|
|
NM_001035.3(RYR2):c.2454G>T (p.Gly818=)
|
rs769137517
|
|
|
NM_001035.3(RYR2):c.246G>A (p.Leu82=)
|
|
|
|
NM_001035.3(RYR2):c.2502G>A (p.Val834=)
|
|
|
|
NM_001035.3(RYR2):c.2520C>T (p.Tyr840=)
|
rs1553475643
|
|
|
NM_001035.3(RYR2):c.2547C>T (p.Asp849=)
|
rs780283100
|
|
|
NM_001035.3(RYR2):c.2548C>T (p.Leu850=)
|
|
|
|
NM_001035.3(RYR2):c.2562A>C (p.Thr854=)
|
rs727503398
|
|
|
NM_001035.3(RYR2):c.2562A>T (p.Thr854=)
|
|
|
|
NM_001035.3(RYR2):c.2613+10T>G
|
rs1664881012
|
|
|
NM_001035.3(RYR2):c.2613+11C>A
|
rs117018661
|
|
|
NM_001035.3(RYR2):c.2613+8G>A
|
rs776678807
|
|
|
NM_001035.3(RYR2):c.2614-6T>C
|
|
|
|
NM_001035.3(RYR2):c.2616C>A (p.Ile872=)
|
|
|
|
NM_001035.3(RYR2):c.2667C>T (p.Ile889=)
|
|
|
|
NM_001035.3(RYR2):c.267A>G (p.Ser89=)
|
|
|
|
NM_001035.3(RYR2):c.2718+20A>G
|
|
|
|
NM_001035.3(RYR2):c.2719-16T>A
|
|
|
|
NM_001035.3(RYR2):c.2719-18T>A
|
|
|
|
NM_001035.3(RYR2):c.2719-4T>G
|
rs397516523
|
|
|
NM_001035.3(RYR2):c.2733C>T (p.Asn911=)
|
rs1665914586
|
|
|
NM_001035.3(RYR2):c.2736G>A (p.Lys912=)
|
|
|
|
NM_001035.3(RYR2):c.274-13T>C
|
|
|
|
NM_001035.3(RYR2):c.274-5C>A
|
rs768394710
|
|
|
NM_001035.3(RYR2):c.274-5C>G
|
rs768394710
|
|
|
NM_001035.3(RYR2):c.2748A>G (p.Pro916=)
|
rs2147767600
|
|
|
NM_001035.3(RYR2):c.2770C>T (p.Leu924=)
|
rs754678409
|
|
|
NM_001035.3(RYR2):c.2772G>T (p.Leu924=)
|
rs780664060
|
|
|
NM_001035.3(RYR2):c.2781G>A (p.Gln927=)
|
|
|
|
NM_001035.3(RYR2):c.279T>A (p.Val93=)
|
rs1037732490
|
|
|
NM_001035.3(RYR2):c.27C>T (p.Asp9=)
|
|
|
|
NM_001035.3(RYR2):c.2808G>T (p.Ser936=)
|
rs1057521205
|
|
|
NM_001035.3(RYR2):c.2811T>A (p.Leu937=)
|
|
|
|
NM_001035.3(RYR2):c.2822+19T>C
|
|
|
|
NM_001035.3(RYR2):c.2822+9C>T
|
rs2893574
|
|
|
NM_001035.3(RYR2):c.2823-19C>G
|
|
|
|
NM_001035.3(RYR2):c.2823-20T>C
|
|
|
|
NM_001035.3(RYR2):c.2823-4C>T
|
|
|
|
NM_001035.3(RYR2):c.2832G>A (p.Leu944=)
|
rs2147939984
|
|
|
NM_001035.3(RYR2):c.2835A>C (p.Ala945=)
|
rs1362472908
|
|
|
NM_001035.3(RYR2):c.2841A>G (p.Gly947=)
|
|
|
|
NM_001035.3(RYR2):c.2868T>C (p.His956=)
|
|
|
|
NM_001035.3(RYR2):c.2871T>C (p.Ala957=)
|
rs771821687
|
|
|
NM_001035.3(RYR2):c.2886A>G (p.Lys962=)
|
rs2147940587
|
|
|
NM_001035.3(RYR2):c.2895G>A (p.Lys965=)
|
|
|
|
NM_001035.3(RYR2):c.2901C>G (p.Pro967=)
|
rs747234013
|
|
|
NM_001035.3(RYR2):c.2901C>T (p.Pro967=)
|
rs747234013
|
|
|
NM_001035.3(RYR2):c.2906+11T>A
|
|
|
|
NM_001035.3(RYR2):c.2906+13A>C
|
|
|
|
NM_001035.3(RYR2):c.2907-15G>A
|
|
|
|
NM_001035.3(RYR2):c.294+8T>A
|
rs2149692036
|
|
|
NM_001035.3(RYR2):c.295-9C>A
|
|
|
|
NM_001035.3(RYR2):c.2958C>T (p.Ile986=)
|
|
|
|
NM_001035.3(RYR2):c.2973A>C (p.Ser991=)
|
|
|
|
NM_001035.3(RYR2):c.2973A>T (p.Ser991=)
|
rs2253273
|
|
|
NM_001035.3(RYR2):c.3039G>A (p.Arg1013=)
|
rs1481647853
|
|
|
NM_001035.3(RYR2):c.3045C>T (p.Gly1015=)
|
rs1405734932
|
|
|
NM_001035.3(RYR2):c.3063A>G (p.Gln1021=)
|
|
|
|
NM_001035.3(RYR2):c.3066+12T>A
|
rs772628091
|
|
|
NM_001035.3(RYR2):c.3066+13T>C
|
rs2148091810
|
|
|
NM_001035.3(RYR2):c.3066+15G>A
|
|
|
|
NM_001035.3(RYR2):c.3067-17C>T
|
|
|
|
NM_001035.3(RYR2):c.3067-20C>T
|
|
|
|
NM_001035.3(RYR2):c.309+10C>T
|
|
|
|
NM_001035.3(RYR2):c.309+18A>T
|
|
|
|
NM_001035.3(RYR2):c.309+9_309+13del
|
rs779631412
|
|
|
NM_001035.3(RYR2):c.3107C>G (p.Thr1036Ser)
|
|
|
|
NM_001035.3(RYR2):c.3122G>A (p.Arg1041Gln)
|
rs773781713
|
|
|
NM_001035.3(RYR2):c.312T>C (p.Thr104=)
|
|
|
|
NM_001035.3(RYR2):c.3214+14A>C
|
|
|
|
NM_001035.3(RYR2):c.3214+19C>T
|
|
|
|
NM_001035.3(RYR2):c.3214+20C>A
|
|
|
|
NM_001035.3(RYR2):c.3214+9G>C
|
|
|
|
NM_001035.3(RYR2):c.3215-11C>G
|
rs1340446563
|
|
|
NM_001035.3(RYR2):c.3215-13G>C
|
|
|
|
NM_001035.3(RYR2):c.3215-14T>C
|
rs1672104473
|
|
|
NM_001035.3(RYR2):c.3215-15_3215-14del
|
|
|
|
NM_001035.3(RYR2):c.3215-5C>T
|
|
|
|
NM_001035.3(RYR2):c.3215-9A>G
|
|
|
|
NM_001035.3(RYR2):c.3219C>T (p.Ala1073=)
|
rs2148251416
|
|
|
NM_001035.3(RYR2):c.3246G>A (p.Gly1082=)
|
rs1672110603
|
|
|
NM_001035.3(RYR2):c.3248A>G (p.Glu1083Gly)
|
|
|
|
NM_001035.3(RYR2):c.3261C>A (p.Ile1087=)
|
|
|
|
NM_001035.3(RYR2):c.3267T>C (p.Arg1089=)
|
rs761738779
|
|
|
NM_001035.3(RYR2):c.3270C>A (p.Ala1090=)
|
rs1344074824
|
|
|
NM_001035.3(RYR2):c.3270C>T (p.Ala1090=)
|
rs1344074824
|
|
|
NM_001035.3(RYR2):c.3298C>A (p.Arg1100=)
|
rs1411654663
|
|
|
NM_001035.3(RYR2):c.3321G>A (p.Thr1107=)
|
rs377716608
|
|
|
NM_001035.3(RYR2):c.3321G>C (p.Thr1107=)
|
rs377716608
|
|
|
NM_001035.3(RYR2):c.3324C>T (p.Val1108=)
|
|
|
|
NM_001035.3(RYR2):c.3348T>C (p.Gly1116=)
|
|
|
|
NM_001035.3(RYR2):c.3360T>C (p.Pro1120=)
|
rs2148252894
|
|
|
NM_001035.3(RYR2):c.3361G>A (p.Gly1121Ser)
|
|
|
|
NM_001035.3(RYR2):c.3366T>C (p.Cys1122=)
|
rs2148252969
|
|
|
NM_001035.3(RYR2):c.3371C>T (p.Pro1124Leu)
|
rs779640835
|
|
|
NM_001035.3(RYR2):c.3394G>C (p.Glu1132Gln)
|
|
|
|
NM_001035.3(RYR2):c.3398G>A (p.Arg1133His)
|
rs374397612
|
|
|
NM_001035.3(RYR2):c.3424-19T>A
|
|
|
|
NM_001035.3(RYR2):c.3424-6G>C
|
rs1672398208
|
|
|
NM_001035.3(RYR2):c.3432G>A (p.Arg1144=)
|
rs764547857
|
|
|
NM_001035.3(RYR2):c.3459G>A (p.Gly1153=)
|
|
|
|
NM_001035.3(RYR2):c.3459G>T (p.Gly1153=)
|
|
|
|
NM_001035.3(RYR2):c.3462C>T (p.Arg1154=)
|
|
|
|
NM_001035.3(RYR2):c.3477C>T (p.Gly1159=)
|
rs780861754
|
|
|
NM_001035.3(RYR2):c.3486G>A (p.Val1162=)
|
rs749237298
|
|
|
NM_001035.3(RYR2):c.3521T>G (p.Met1174Arg)
|
|
|
|
NM_001035.3(RYR2):c.3529C>T (p.Leu1177=)
|
rs1386427245
|
|
|
NM_001035.3(RYR2):c.3567A>G (p.Glu1189=)
|
rs368959706
|
|
|
NM_001035.3(RYR2):c.3568C>T (p.Leu1190=)
|
|
|
|
NM_001035.3(RYR2):c.3585T>C (p.Phe1195=)
|
|
|
|
NM_001035.3(RYR2):c.3598+10C>G
|
|
|
|
NM_001035.3(RYR2):c.3598+10_3598+12del
|
rs757703672
|
|
|
NM_001035.3(RYR2):c.3598+11T>C
|
|
|
|
NM_001035.3(RYR2):c.3598+7C>T
|
rs1197179687
|
|
|
NM_001035.3(RYR2):c.3599-14T>C
|
|
|
|
NM_001035.3(RYR2):c.3599-16T>G
|
rs966962775
|
|
|
NM_001035.3(RYR2):c.3600A>T (p.Gly1200=)
|
rs2148430388
|
|
|
NM_001035.3(RYR2):c.3651T>C (p.Phe1217=)
|
|
|
|
NM_001035.3(RYR2):c.3681C>T (p.Phe1227=)
|
rs2148430827
|
|
|
NM_001035.3(RYR2):c.3693C>T (p.Gly1231=)
|
|
|
|
NM_001035.3(RYR2):c.3726T>C (p.Asn1242=)
|
|
|
|
NM_001035.3(RYR2):c.3732C>T (p.Asn1244=)
|
rs1327517169
|
|
|
NM_001035.3(RYR2):c.375T>C (p.Tyr125=)
|
rs397516528
|
|
|
NM_001035.3(RYR2):c.3762G>A (p.Arg1254=)
|
|
|
|
NM_001035.3(RYR2):c.3795T>C (p.His1265=)
|
rs2148431580
|
|
|
NM_001035.3(RYR2):c.3808-10C>G
|
|
|
|
NM_001035.3(RYR2):c.3808-16C>A
|
|
|
|
NM_001035.3(RYR2):c.3808-16C>T
|
|
|
|
NM_001035.3(RYR2):c.3808-4C>T
|
rs1675049564
|
|
|
NM_001035.3(RYR2):c.3808-5G>C
|
rs776405427
|
|
|
NM_001035.3(RYR2):c.381C>T (p.Gly127=)
|
|
|
|
NM_001035.3(RYR2):c.3834C>T (p.Asp1278=)
|
rs1553514916
|
|
|
NM_001035.3(RYR2):c.384+14T>C
|
|
|
|
NM_001035.3(RYR2):c.384+17T>G
|
|
|
|
NM_001035.3(RYR2):c.384+19T>C
|
|
|
|
NM_001035.3(RYR2):c.384+9G>T
|
|
|
|
NM_001035.3(RYR2):c.3840C>A (p.Ser1280=)
|
rs752970338
|
|
|
NM_001035.3(RYR2):c.3840C>T (p.Ser1280=)
|
|
|
|
NM_001035.3(RYR2):c.385-17G>C
|
|
|
|
NM_001035.3(RYR2):c.385-18T>G
|
|
|
|
NM_001035.3(RYR2):c.385-20A>T
|
rs2149782305
|
|
|
NM_001035.3(RYR2):c.385-8C>T
|
rs529230897
|
|
|
NM_001035.3(RYR2):c.3855C>G (p.Val1285=)
|
|
|
|
NM_001035.3(RYR2):c.3864G>A (p.Lys1288=)
|
|
|
|
NM_001035.3(RYR2):c.3894T>C (p.Asp1298=)
|
|
|
|
NM_001035.3(RYR2):c.390G>C (p.Leu130=)
|
|
|
|
NM_001035.3(RYR2):c.3966C>G (p.Leu1322=)
|
rs1235181059
|
|
|
NM_001035.3(RYR2):c.3978C>T (p.Gly1326=)
|
rs745839967
|
|
|
NM_001035.3(RYR2):c.39C>T (p.Phe13=)
|
|
|
|
NM_001035.3(RYR2):c.4053T>C (p.His1351=)
|
|
|
|
NM_001035.3(RYR2):c.4059T>C (p.His1353=)
|
|
|
|
NM_001035.3(RYR2):c.405C>A (p.Thr135=)
|
rs1214302342
|
|
|
NM_001035.3(RYR2):c.4068C>A (p.Pro1356=)
|
rs199821105
|
|
|
NM_001035.3(RYR2):c.4089A>G (p.Lys1363=)
|
|
|
|
NM_001035.3(RYR2):c.408C>T (p.Ser136=)
|
rs1553425562
|
|
|
NM_001035.3(RYR2):c.4150C>T (p.Leu1384=)
|
|
|
|
NM_001035.3(RYR2):c.4160+10T>C
|
rs397516530
|
|
|
NM_001035.3(RYR2):c.4160+15C>G
|
|
|
|
NM_001035.3(RYR2):c.4161-18T>G
|
|
|
|
NM_001035.3(RYR2):c.4161A>G (p.Arg1387=)
|
rs1573004917
|
|
|
NM_001035.3(RYR2):c.4171A>C (p.Arg1391=)
|
rs371561223
|
|
|
NM_001035.3(RYR2):c.4176A>G (p.Arg1392=)
|
rs2148445989
|
|
|
NM_001035.3(RYR2):c.4200C>T (p.Ser1400=)
|
|
|
|
NM_001035.3(RYR2):c.420T>C (p.Thr140=)
|
rs2149782582
|
|
|
NM_001035.3(RYR2):c.4218C>A (p.Thr1406=)
|
rs368817788
|
|
|
NM_001035.3(RYR2):c.4218C>T (p.Thr1406=)
|
rs368817788
|
|
|
NM_001035.3(RYR2):c.4227C>T (p.Val1409=)
|
|
|
|
NM_001035.3(RYR2):c.4269G>A (p.Thr1423=)
|
rs1342902406
|
|
|
NM_001035.3(RYR2):c.4275+7G>A
|
rs1573005697
|
|
|
NM_001035.3(RYR2):c.4275+8G>C
|
rs1573005723
|
|
|
NM_001035.3(RYR2):c.4276-13G>A
|
|
|
|
NM_001035.3(RYR2):c.4276-15C>G
|
|
|
|
NM_001035.3(RYR2):c.4276-9T>C
|
rs1559081633
|
|
|
NM_001035.3(RYR2):c.427C>T (p.Leu143=)
|
|
|
|
NM_001035.3(RYR2):c.4320T>C (p.Asn1440=)
|
rs1675468093
|
|
|
NM_001035.3(RYR2):c.4321G>A (p.Val1441Ile)
|
|
|
|
NM_001035.3(RYR2):c.4323C>T (p.Val1441=)
|
|
|
|
NM_001035.3(RYR2):c.4332C>T (p.Gly1444=)
|
|
|
|
NM_001035.3(RYR2):c.4368C>G (p.Gly1456=)
|
rs1057522920
|
|
|
NM_001035.3(RYR2):c.4374C>T (p.Asp1458=)
|
rs1163174459
|
|
|
NM_001035.3(RYR2):c.4375T>C (p.Leu1459=)
|
|
|
|
NM_001035.3(RYR2):c.4388G>A (p.Arg1463His)
|
rs753707154
|
|
|
NM_001035.3(RYR2):c.4393G>A (p.Val1465Ile)
|
|
|
|
NM_001035.3(RYR2):c.43C>A (p.Arg15=)
|
|
|
|
NM_001035.3(RYR2):c.4413T>C (p.Asp1471=)
|
|
|
|
NM_001035.3(RYR2):c.441T>G (p.Val147=)
|
|
|
|
NM_001035.3(RYR2):c.4422A>G (p.Gly1474=)
|
|
|
|
NM_001035.3(RYR2):c.4431T>C (p.His1477=)
|
|
|
|
NM_001035.3(RYR2):c.4436+10C>G
|
|
|
|
NM_001035.3(RYR2):c.4436+11C>T
|
|
|
|
NM_001035.3(RYR2):c.4436+15A>C
|
|
|
|
NM_001035.3(RYR2):c.4436+15A>T
|
|
|
|
NM_001035.3(RYR2):c.4436+16T>C
|
rs1675484367
|
|
|
NM_001035.3(RYR2):c.444C>T (p.Gly148=)
|
rs1572035408
|
|
|
NM_001035.3(RYR2):c.4467T>C (p.Cys1489=)
|
|
|
|
NM_001035.3(RYR2):c.4473T>G (p.Gly1491=)
|
|
|
|
NM_001035.3(RYR2):c.4476G>C (p.Glu1492Asp)
|
|
|
|
NM_001035.3(RYR2):c.4485C>T (p.Ser1495=)
|
|
|
|
NM_001035.3(RYR2):c.4491G>T (p.Gly1497=)
|
rs2148474772
|
|
|
NM_001035.3(RYR2):c.4497A>T (p.Gly1499=)
|
rs1573023606
|
|
|
NM_001035.3(RYR2):c.4518G>A (p.Glu1506=)
|
rs775280276
|
|
|
NM_001035.3(RYR2):c.4545C>T (p.Ser1515=)
|
rs768227781
|
|
|
NM_001035.3(RYR2):c.4548G>A (p.Gly1516=)
|
rs1675807561
|
|
|
NM_001035.3(RYR2):c.4549C>T (p.Leu1517=)
|
|
|
|
NM_001035.3(RYR2):c.4569T>C (p.Asn1523=)
|
|
|
|
NM_001035.3(RYR2):c.4596+10C>T
|
|
|
|
NM_001035.3(RYR2):c.4596+18A>G
|
|
|
|
NM_001035.3(RYR2):c.4596+7G>T
|
|
|
|
NM_001035.3(RYR2):c.4596+8G>A
|
|
|
|
NM_001035.3(RYR2):c.4597-7A>G
|
|
|
|
NM_001035.3(RYR2):c.4597-8dup
|
|
|
|
NM_001035.3(RYR2):c.459C>T (p.Thr153=)
|
|
|
|
NM_001035.3(RYR2):c.4611A>G (p.Thr1537=)
|
rs1285176357
|
|
|
NM_001035.3(RYR2):c.4623T>C (p.Pro1541=)
|
rs2148510937
|
|
|
NM_001035.3(RYR2):c.463+13T>G
|
|
|
|
NM_001035.3(RYR2):c.463+19G>A
|
|
|
|
NM_001035.3(RYR2):c.464-10A>G
|
rs1257588740
|
|
|
NM_001035.3(RYR2):c.464-12G>T
|
rs766779504
|
|
|
NM_001035.3(RYR2):c.464-9_464-8delinsCC
|
rs1572045142
|
|
|
NM_001035.3(RYR2):c.4644A>G (p.Thr1548=)
|
rs865947296
|
|
|
NM_001035.3(RYR2):c.4659C>T (p.Phe1553=)
|
rs767900430
|
|
|
NM_001035.3(RYR2):c.4662G>A (p.Gln1554=)
|
rs2148511200
|
|
|
NM_001035.3(RYR2):c.4669T>C (p.Leu1557=)
|
rs947233100
|
|
|
NM_001035.3(RYR2):c.4683+12T>C
|
|
|
|
NM_001035.3(RYR2):c.4683+7A>C
|
|
|
|
NM_001035.3(RYR2):c.4683+8A>C
|
|
|
|
NM_001035.3(RYR2):c.4683+8A>G
|
|
|
|
NM_001035.3(RYR2):c.4684-16C>G
|
|
|
|
NM_001035.3(RYR2):c.4684-17G>A
|
|
|
|
NM_001035.3(RYR2):c.4684-5G>A
|
rs7522981
|
|
|
NM_001035.3(RYR2):c.4684-5G>T
|
rs7522981
|
|
|
NM_001035.3(RYR2):c.4684-9A>C
|
|
|
|
NM_001035.3(RYR2):c.4693C>G (p.Pro1565Ala)
|
rs778783933
|
|
|
NM_001035.3(RYR2):c.4728G>A (p.Lys1576=)
|
rs2148572687
|
|
|
NM_001035.3(RYR2):c.4731C>T (p.Asn1577=)
|
rs1677763044
|
|
|
NM_001035.3(RYR2):c.4733C>T (p.Pro1578Leu)
|
|
|
|
NM_001035.3(RYR2):c.4734C>A (p.Pro1578=)
|
rs201880756
|
|
|
NM_001035.3(RYR2):c.4734C>G (p.Pro1578=)
|
rs201880756
|
|
|
NM_001035.3(RYR2):c.4740G>T (p.Pro1580=)
|
rs79811945
|
|
|
NM_001035.3(RYR2):c.4746C>T (p.Cys1582=)
|
|
|
|
NM_001035.3(RYR2):c.4749C>T (p.Pro1583=)
|
rs914743349
|
|
|
NM_001035.3(RYR2):c.474T>C (p.Cys158=)
|
|
|
|
NM_001035.3(RYR2):c.4770C>T (p.Phe1590=)
|
rs397516536
|
|
|
NM_001035.3(RYR2):c.4771C>T (p.Leu1591=)
|
|
|
|
NM_001035.3(RYR2):c.4773G>A (p.Leu1591=)
|
|
|
|
NM_001035.3(RYR2):c.4783C>T (p.Leu1595=)
|
|
|
|
NM_001035.3(RYR2):c.48+13C>T
|
rs1353592562
|
|
|
NM_001035.3(RYR2):c.48+19G>T
|
|
|
|
NM_001035.3(RYR2):c.48+7G>T
|
rs886567477
|
|
|
NM_001035.3(RYR2):c.4818A>G (p.Val1606=)
|
rs1559110553
|
|
|
NM_001035.3(RYR2):c.4821T>C (p.Asp1607=)
|
rs868510940
|
|
|
NM_001035.3(RYR2):c.49-10C>G
|
|
|
|
NM_001035.3(RYR2):c.49-11C>T
|
rs2149346688
|
|
|
NM_001035.3(RYR2):c.49-12C>T
|
|
|
|
NM_001035.3(RYR2):c.49-14C>G
|
|
|
|
NM_001035.3(RYR2):c.49-16_49-13del
|
|
|
|
NM_001035.3(RYR2):c.49-17T>C
|
|
|
|
NM_001035.3(RYR2):c.49-4G>A
|
rs750038523
|
|
|
NM_001035.3(RYR2):c.49-6T>C
|
rs2149346729
|
|
|
NM_001035.3(RYR2):c.49-9C>G
|
rs1057522958
|
|
|
NM_001035.3(RYR2):c.4902G>A (p.Glu1634=)
|
rs767794262
|
|
|
NM_001035.3(RYR2):c.4910+10A>G
|
|
|
|
NM_001035.3(RYR2):c.4910+11G>T
|
|
|
|
NM_001035.3(RYR2):c.4910+9C>T
|
rs2148574631
|
|
|
NM_001035.3(RYR2):c.4911-10C>T
|
rs762641238
|
|
|
NM_001035.3(RYR2):c.4911-14C>T
|
|
|
|
NM_001035.3(RYR2):c.4911-18C>T
|
|
|
|
NM_001035.3(RYR2):c.4911-19_4911-18insT
|
|
|
|
NM_001035.3(RYR2):c.4911-20C>T
|
|
|
|
NM_001035.3(RYR2):c.4911-4A>G
|
|
|
|
NM_001035.3(RYR2):c.4911-8T>C
|
rs1678192688
|
|
|
NM_001035.3(RYR2):c.4911-8T>G
|
|
|
|
NM_001035.3(RYR2):c.4914T>C (p.Ser1638=)
|
rs2148593032
|
|
|
NM_001035.3(RYR2):c.4914T>G (p.Ser1638=)
|
|
|
|
NM_001035.3(RYR2):c.4923C>A (p.Ile1641=)
|
|
|
|
NM_001035.3(RYR2):c.4974C>T (p.Leu1658=)
|
rs2148593486
|
|
|
NM_001035.3(RYR2):c.4989C>A (p.Ala1663=)
|
rs147060179
|
|
|
NM_001035.3(RYR2):c.4990G>A (p.Val1664Ile)
|
rs749434532
|
|
|
NM_001035.3(RYR2):c.5011C>A (p.Arg1671=)
|
|
|
|
NM_001035.3(RYR2):c.5025C>A (p.Ala1675=)
|
|
|
|
NM_001035.3(RYR2):c.5070G>A (p.Glu1690=)
|
rs1435941641
|
|
|
NM_001035.3(RYR2):c.5103C>G (p.Gly1701=)
|
|
|
|
NM_001035.3(RYR2):c.510A>C (p.Ser170=)
|
rs1057523213
|
|
|
NM_001035.3(RYR2):c.5112C>T (p.Asp1704=)
|
|
|
|
NM_001035.3(RYR2):c.5148T>C (p.Thr1716=)
|
|
|
|
NM_001035.3(RYR2):c.516A>T (p.Gly172=)
|
|
|
|
NM_001035.3(RYR2):c.5172G>A (p.Glu1724=)
|
|
|
|
NM_001035.3(RYR2):c.5190G>A (p.Thr1730=)
|
rs397516541
|
|
|
NM_001035.3(RYR2):c.5190G>T (p.Thr1730=)
|
rs397516541
|
|
|
NM_001035.3(RYR2):c.5193G>A (p.Glu1731=)
|
rs2148594968
|
|
|
NM_001035.3(RYR2):c.5208C>A (p.Ile1736=)
|
rs1678226437
|
|
|
NM_001035.3(RYR2):c.5241C>G (p.Gly1747=)
|
rs533362755
|
|
|
NM_001035.3(RYR2):c.5241C>T (p.Gly1747=)
|
|
|
|
NM_001035.3(RYR2):c.5256C>T (p.Gly1752=)
|
rs1350989279
|
|
|
NM_001035.3(RYR2):c.525A>G (p.Val175=)
|
|
|
|
NM_001035.3(RYR2):c.5285A>G (p.Gln1762Arg)
|
|
|
|
NM_001035.3(RYR2):c.5292C>T (p.Ser1764=)
|
|
|
|
NM_001035.3(RYR2):c.5295C>T (p.Ser1765=)
|
|
|
|
NM_001035.3(RYR2):c.5298C>G (p.Pro1766=)
|
|
|
|
NM_001035.3(RYR2):c.5301T>C (p.Ser1767=)
|
|
|
|
NM_001035.3(RYR2):c.5334C>T (p.Tyr1778=)
|
rs756648811
|
|
|
NM_001035.3(RYR2):c.5340A>G (p.Pro1780=)
|
rs749662039
|
|
|
NM_001035.3(RYR2):c.5406C>G (p.Gly1802=)
|
|
|
|
NM_001035.3(RYR2):c.5415T>C (p.His1805=)
|
rs2148596471
|
|
|
NM_001035.3(RYR2):c.5419C>A (p.Arg1807=)
|
|
|
|
NM_001035.3(RYR2):c.543C>T (p.Leu181=)
|
rs2149792951
|
|
|
NM_001035.3(RYR2):c.5451C>G (p.Leu1817=)
|
|
|
|
NM_001035.3(RYR2):c.5469G>A (p.Lys1823=)
|
|
|
|
NM_001035.3(RYR2):c.5475C>T (p.Phe1825=)
|
|
|
|
NM_001035.3(RYR2):c.5487G>A (p.Leu1829=)
|
rs371250741
|
|
|
NM_001035.3(RYR2):c.5580G>A (p.Glu1860=)
|
|
|
|
NM_001035.3(RYR2):c.5589G>A (p.Thr1863=)
|
rs778971089
|
|
|
NM_001035.3(RYR2):c.5616T>C (p.Asp1872=)
|
rs765786213
|
|
|
NM_001035.3(RYR2):c.5640G>A (p.Glu1880=)
|
|
|
|
NM_001035.3(RYR2):c.5658C>A (p.Gly1886=)
|
rs745731983
|
|
|
NM_001035.3(RYR2):c.5670G>A (p.Lys1890=)
|
rs779847743
|
|
|
NM_001035.3(RYR2):c.5685A>G (p.Gln1895=)
|
|
|
|
NM_001035.3(RYR2):c.5703A>G (p.Pro1901=)
|
rs1573127804
|
|
|
NM_001035.3(RYR2):c.570G>A (p.Arg190=)
|
|
|
|
NM_001035.3(RYR2):c.5715+10A>G
|
|
|
|
NM_001035.3(RYR2):c.5716-12A>T
|
|
|
|
NM_001035.3(RYR2):c.5716-9G>A
|
|
|
|
NM_001035.3(RYR2):c.5721C>T (p.Cys1907=)
|
rs769877200
|
|
|
NM_001035.3(RYR2):c.5730T>A (p.Leu1910=)
|
|
|
|
NM_001035.3(RYR2):c.5733G>A (p.Gln1911=)
|
|
|
|
NM_001035.3(RYR2):c.577-14del
|
|
|
|
NM_001035.3(RYR2):c.577-5T>C
|
rs1237631846
|
|
|
NM_001035.3(RYR2):c.5781C>T (p.Ala1927=)
|
rs2148613866
|
|
|
NM_001035.3(RYR2):c.57A>G (p.Glu19=)
|
|
|
|
NM_001035.3(RYR2):c.5814C>T (p.Asp1938=)
|
|
|
|
NM_001035.3(RYR2):c.5838A>G (p.Glu1946=)
|
rs1485391345
|
|
|
NM_001035.3(RYR2):c.5841C>T (p.Val1947=)
|
rs1487785475
|
|
|
NM_001035.3(RYR2):c.5880G>A (p.Arg1960=)
|
|
|
|
NM_001035.3(RYR2):c.5901A>C (p.Ser1967=)
|
rs1553524372
|
|
|
NM_001035.3(RYR2):c.5917-12T>C
|
rs746414195
|
|
|
NM_001035.3(RYR2):c.591C>A (p.Gly197=)
|
rs1572092032
|
|
|
NM_001035.3(RYR2):c.5922T>C (p.Asn1974=)
|
rs747433387
|
|
|
NM_001035.3(RYR2):c.5989T>C (p.Leu1997=)
|
|
|
|
NM_001035.3(RYR2):c.6000T>C (p.His2000=)
|
|
|
|
NM_001035.3(RYR2):c.6000T>G (p.His2000Gln)
|
|
|
|
NM_001035.3(RYR2):c.600C>T (p.Ser200=)
|
rs754084775
|
|
|
NM_001035.3(RYR2):c.6018T>C (p.His2006=)
|
rs757380341
|
|
|
NM_001035.3(RYR2):c.6022+14G>A
|
rs1370132495
|
|
|
NM_001035.3(RYR2):c.6022+15A>T
|
|
|
|
NM_001035.3(RYR2):c.6023-14T>G
|
|
|
|
NM_001035.3(RYR2):c.6023-19C>G
|
|
|
|
NM_001035.3(RYR2):c.6023-8T>A
|
rs770641716
|
|
|
NM_001035.3(RYR2):c.6056G>A (p.Gly2019Glu)
|
|
|
|
NM_001035.3(RYR2):c.6090A>C (p.Leu2030=)
|
|
|
|
NM_001035.3(RYR2):c.6090A>T (p.Leu2030=)
|
|
|
|
NM_001035.3(RYR2):c.6092C>T (p.Ser2031Phe)
|
|
|
|
NM_001035.3(RYR2):c.6114T>C (p.Tyr2038=)
|
rs1451202406
|
|
|
NM_001035.3(RYR2):c.6117G>A (p.Leu2039=)
|
|
|
|
NM_001035.3(RYR2):c.6126G>A (p.Lys2042=)
|
rs1433457033
|
|
|
NM_001035.3(RYR2):c.6141A>C (p.Pro2047=)
|
|
|
|
NM_001035.3(RYR2):c.6141A>G (p.Pro2047=)
|
rs2148657967
|
|
|
NM_001035.3(RYR2):c.6150T>C (p.Ser2050=)
|
rs371310419
|
|
|
NM_001035.3(RYR2):c.6150T>G (p.Ser2050Arg)
|
rs371310419
|
|
|
NM_001035.3(RYR2):c.6166+13A>G
|
|
|
|
NM_001035.3(RYR2):c.6166+16G>A
|
|
|
|
NM_001035.3(RYR2):c.6167-13A>G
|
|
|
|
NM_001035.3(RYR2):c.6167-16C>T
|
|
|
|
NM_001035.3(RYR2):c.6167-7T>C
|
rs1679840771
|
|
|
NM_001035.3(RYR2):c.6171T>G (p.Thr2057=)
|
rs2148666530
|
|
|
NM_001035.3(RYR2):c.6195C>T (p.Thr2065=)
|
rs1244724940
|
|
|
NM_001035.3(RYR2):c.6249C>T (p.Ala2083=)
|
rs2148666906
|
|
|
NM_001035.3(RYR2):c.6273G>A (p.Gln2091=)
|
|
|
|
NM_001035.3(RYR2):c.630T>A (p.Thr210=)
|
|
|
|
NM_001035.3(RYR2):c.6318C>T (p.Tyr2106=)
|
rs2148667270
|
|
|
NM_001035.3(RYR2):c.6327T>C (p.Asn2109=)
|
|
|
|
NM_001035.3(RYR2):c.6348C>A (p.Thr2116=)
|
|
|
|
NM_001035.3(RYR2):c.6381G>T (p.Arg2127=)
|
|
|
|
NM_001035.3(RYR2):c.6390G>T (p.Leu2130=)
|
|
|
|
NM_001035.3(RYR2):c.6420G>A (p.Lys2140=)
|
rs2148667663
|
|
|
NM_001035.3(RYR2):c.6429T>A (p.Ile2143=)
|
rs2148667697
|
|
|
NM_001035.3(RYR2):c.6435A>T (p.Gly2145=)
|
rs1388675043
|
|
|
NM_001035.3(RYR2):c.6440+17C>A
|
|
|
|
NM_001035.3(RYR2):c.6441-16C>A
|
|
|
|
NM_001035.3(RYR2):c.6441-18G>A
|
rs772385198
|
|
|
NM_001035.3(RYR2):c.6441-18G>T
|
|
|
|
NM_001035.3(RYR2):c.6441-9C>G
|
rs777133390
|
|
|
NM_001035.3(RYR2):c.6441-9C>T
|
|
|
|
NM_001035.3(RYR2):c.6510T>C (p.Thr2170=)
|
rs901453964
|
|
|
NM_001035.3(RYR2):c.6513G>A (p.Val2171=)
|
|
|
|
NM_001035.3(RYR2):c.6519G>A (p.Glu2173=)
|
|
|
|
NM_001035.3(RYR2):c.6531C>T (p.Asn2177=)
|
|
|
|
NM_001035.3(RYR2):c.6555+19dup
|
|
|
|
NM_001035.3(RYR2):c.6555+8C>G
|
rs1759122
|
|
|
NM_001035.3(RYR2):c.6556-11T>C
|
rs372925188
|
|
|
NM_001035.3(RYR2):c.6556-16C>T
|
rs1160418526
|
|
|
NM_001035.3(RYR2):c.6556-9T>C
|
|
|
|
NM_001035.3(RYR2):c.6600C>G (p.Leu2200=)
|
|
|
|
NM_001035.3(RYR2):c.6615T>A (p.Arg2205=)
|
|
|
|
NM_001035.3(RYR2):c.6639T>A (p.Ala2213=)
|
rs2148700970
|
|
|
NM_001035.3(RYR2):c.663T>C (p.Ser221=)
|
|
|
|
NM_001035.3(RYR2):c.6664C>T (p.Leu2222=)
|
|
|
|
NM_001035.3(RYR2):c.6689-15C>T
|
|
|
|
NM_001035.3(RYR2):c.6689-18C>T
|
|
|
|
NM_001035.3(RYR2):c.6690C>G (p.Ala2230=)
|
rs1558107135
|
|
|
NM_001035.3(RYR2):c.6693C>G (p.Ser2231=)
|
rs1426565026
|
|
|
NM_001035.3(RYR2):c.6693C>T (p.Ser2231=)
|
rs1426565026
|
|
|
NM_001035.3(RYR2):c.6705A>G (p.Arg2235=)
|
|
|
|
NM_001035.3(RYR2):c.6711A>G (p.Ser2237=)
|
|
|
|
NM_001035.3(RYR2):c.6717A>G (p.Pro2239=)
|
rs1288613413
|
|
|
NM_001035.3(RYR2):c.672C>A (p.Ala224=)
|
rs1572092448
|
|
|
NM_001035.3(RYR2):c.6738G>A (p.Ser2246=)
|
rs368207198
|
|
|
NM_001035.3(RYR2):c.676+12A>C
|
rs760974801
|
|
|
NM_001035.3(RYR2):c.6762A>G (p.Ala2254=)
|
rs1043486693
|
|
|
NM_001035.3(RYR2):c.677-11T>C
|
rs10754602
|
|
|
NM_001035.3(RYR2):c.677-18G>A
|
|
|
|
NM_001035.3(RYR2):c.677-7C>G
|
rs747407654
|
|
|
NM_001035.3(RYR2):c.6780G>C (p.Pro2260=)
|
rs758855412
|
|
|
NM_001035.3(RYR2):c.6792+14C>T
|
|
|
|
NM_001035.3(RYR2):c.6792+16G>T
|
|
|
|
NM_001035.3(RYR2):c.6792+17C>A
|
|
|
|
NM_001035.3(RYR2):c.6792+18C>T
|
rs1350816716
|
|
|
NM_001035.3(RYR2):c.6795A>G (p.Val2265=)
|
|
|
|
NM_001035.3(RYR2):c.682C>G (p.Leu228Val)
|
|
|
|
NM_001035.3(RYR2):c.6831C>T (p.Cys2277=)
|
|
|
|
NM_001035.3(RYR2):c.6858A>G (p.Pro2286=)
|
rs2148724106
|
|
|
NM_001035.3(RYR2):c.6867G>A (p.Gly2289=)
|
rs778358338
|
|
|
NM_001035.3(RYR2):c.6906_6907delinsCC (p.Leu2302_Arg2303=)
|
rs2148724444
|
|
|
NM_001035.3(RYR2):c.6928+15C>T
|
|
|
|
NM_001035.3(RYR2):c.6928+17T>C
|
|
|
|
NM_001035.3(RYR2):c.6928+8T>C
|
rs2148724639
|
|
|
NM_001035.3(RYR2):c.6929-16C>T
|
rs2148727288
|
|
|
NM_001035.3(RYR2):c.6929-20T>C
|
|
|
|
NM_001035.3(RYR2):c.6929-6C>T
|
|
|
|
NM_001035.3(RYR2):c.6929-8T>G
|
rs1405186238
|
|
|
NM_001035.3(RYR2):c.693T>C (p.Gly231=)
|
|
|
|
NM_001035.3(RYR2):c.6951A>G (p.Ala2317=)
|
|
|
|
NM_001035.3(RYR2):c.6954T>C (p.Asn2318=)
|
|
|
|
NM_001035.3(RYR2):c.6963G>A (p.Val2321=)
|
rs2148727676
|
|
|
NM_001035.3(RYR2):c.6972C>T (p.Leu2324=)
|
rs770197614
|
|
|
NM_001035.3(RYR2):c.6C>G (p.Ala2=)
|
rs1019441723
|
|
|
NM_001035.3(RYR2):c.7020G>A (p.Gly2340=)
|
rs767884614
|
|
|
NM_001035.3(RYR2):c.7023T>C (p.Asn2341=)
|
|
|
|
NM_001035.3(RYR2):c.702C>T (p.Leu234=)
|
rs2149847517
|
|
|
NM_001035.3(RYR2):c.7035A>T (p.Ala2345=)
|
rs1681182291
|
|
|
NM_001035.3(RYR2):c.7050C>T (p.Ala2350=)
|
rs1573272712
|
|
|
NM_001035.3(RYR2):c.7059C>T (p.Ile2353=)
|
rs750016196
|
|
|
NM_001035.3(RYR2):c.705G>A (p.Arg235=)
|
|
|
|
NM_001035.3(RYR2):c.7060G>A (p.Ala2354Thr)
|
rs773070579
|
|
|
NM_001035.3(RYR2):c.7065G>A (p.Glu2355=)
|
rs1294243113
|
|
|
NM_001035.3(RYR2):c.706T>C (p.Leu236=)
|
rs1032660273
|
|
|
NM_001035.3(RYR2):c.7071T>A (p.Pro2357=)
|
rs1489908718
|
|
|
NM_001035.3(RYR2):c.7074C>T (p.Ser2358=)
|
rs2148728512
|
|
|
NM_001035.3(RYR2):c.7106G>A (p.Ser2369Asn)
|
|
|
|
NM_001035.3(RYR2):c.7115+10A>G
|
rs1553264024
|
|
|
NM_001035.3(RYR2):c.7115+12A>G
|
|
|
|
NM_001035.3(RYR2):c.7115+13T>A
|
|
|
|
NM_001035.3(RYR2):c.7115+16A>G
|
rs754440462
|
|
|
NM_001035.3(RYR2):c.7115+19C>A
|
|
|
|
NM_001035.3(RYR2):c.7115+9A>G
|
rs2148728882
|
|
|
NM_001035.3(RYR2):c.7116-11A>G
|
|
|
|
NM_001035.3(RYR2):c.7116-11A>T
|
|
|
|
NM_001035.3(RYR2):c.7116-15A>C
|
rs1558120605
|
|
|
NM_001035.3(RYR2):c.711G>A (p.Leu237=)
|
rs759018901
|
|
|
NM_001035.3(RYR2):c.711G>C (p.Leu237=)
|
rs759018901
|
|
|
NM_001035.3(RYR2):c.7134A>G (p.Glu2378=)
|
|
|
|
NM_001035.3(RYR2):c.7140C>T (p.Asp2380=)
|
rs2148738346
|
|
|
NM_001035.3(RYR2):c.7146C>A (p.Ile2382=)
|
rs1459450227
|
|
|
NM_001035.3(RYR2):c.7161G>C (p.Ala2387=)
|
rs371560909
|
|
|
NM_001035.3(RYR2):c.7173C>T (p.Phe2391=)
|
|
|
|
NM_001035.3(RYR2):c.7200A>T (p.Gly2400=)
|
rs777117043
|
|
|
NM_001035.3(RYR2):c.7212T>C (p.Pro2404=)
|
rs377714735
|
|
|
NM_001035.3(RYR2):c.7221+15G>C
|
|
|
|
NM_001035.3(RYR2):c.7221+18C>T
|
|
|
|
NM_001035.3(RYR2):c.7221+9C>G
|
|
|
|
NM_001035.3(RYR2):c.7222-11C>G
|
|
|
|
NM_001035.3(RYR2):c.7222-11C>T
|
|
|
|
NM_001035.3(RYR2):c.7222-12T>G
|
rs540308433
|
|
|
NM_001035.3(RYR2):c.7222-15T>A
|
rs1681763241
|
|
|
NM_001035.3(RYR2):c.7222-4A>G
|
rs564974610
|
|
|
NM_001035.3(RYR2):c.7222-5T>C
|
rs895002085
|
|
|
NM_001035.3(RYR2):c.7222-9C>T
|
rs780241690
|
|
|
NM_001035.3(RYR2):c.7233C>A (p.Ala2411=)
|
rs367994477
|
|
|
NM_001035.3(RYR2):c.7263C>A (p.Ser2421=)
|
|
|
|
NM_001035.3(RYR2):c.7267T>C (p.Leu2423=)
|
|
|
|
NM_001035.3(RYR2):c.7272A>G (p.Arg2424=)
|
rs2148757919
|
|
|
NM_001035.3(RYR2):c.7287G>A (p.Leu2429=)
|
rs876657578
|
|
|
NM_001035.3(RYR2):c.7314C>A (p.Ile2438=)
|
rs374418643
|
|
|
NM_001035.3(RYR2):c.7314C>T (p.Ile2438=)
|
rs374418643
|
|
|
NM_001035.3(RYR2):c.7342+9A>G
|
rs2148758575
|
|
|
NM_001035.3(RYR2):c.7350T>C (p.Asn2450=)
|
|
|
|
NM_001035.3(RYR2):c.7383C>T (p.Cys2461=)
|
rs373881578
|
|
|
NM_001035.3(RYR2):c.7419C>T (p.Asp2473=)
|
rs2148789761
|
|
|
NM_001035.3(RYR2):c.7431G>A (p.Gly2477=)
|
rs1347991904
|
|
|
NM_001035.3(RYR2):c.7449C>T (p.Phe2483=)
|
|
|
|
NM_001035.3(RYR2):c.750A>G (p.Gly250=)
|
rs1572095976
|
|
|
NM_001035.3(RYR2):c.7512+14G>T
|
rs748775701
|
|
|
NM_001035.3(RYR2):c.7512+7T>C
|
|
|
|
NM_001035.3(RYR2):c.7512+8T>C
|
rs1384500147
|
|
|
NM_001035.3(RYR2):c.7513-13G>C
|
|
|
|
NM_001035.3(RYR2):c.7513-17C>T
|
|
|
|
NM_001035.3(RYR2):c.7513-18T>C
|
|
|
|
NM_001035.3(RYR2):c.7513-20_7513-18del
|
|
|
|
NM_001035.3(RYR2):c.7513-8T>G
|
rs727503402
|
|
|
NM_001035.3(RYR2):c.7524T>C (p.Ser2508=)
|
rs2148796054
|
|
|
NM_001035.3(RYR2):c.7533C>T (p.Asp2511=)
|
rs975710456
|
|
|
NM_001035.3(RYR2):c.7539C>T (p.Ala2513=)
|
|
|
|
NM_001035.3(RYR2):c.7554G>A (p.Arg2518=)
|
rs2148796286
|
|
|
NM_001035.3(RYR2):c.756T>C (p.His252=)
|
|
|
|
NM_001035.3(RYR2):c.7575G>A (p.Leu2525=)
|
rs1682560212
|
|
|
NM_001035.3(RYR2):c.7581G>A (p.Leu2527=)
|
rs1328285136
|
|
|
NM_001035.3(RYR2):c.7599T>C (p.Pro2533=)
|
rs886046274
|
|
|
NM_001035.3(RYR2):c.75C>G (p.Thr25=)
|
|
|
|
NM_001035.3(RYR2):c.7602C>G (p.Leu2534=)
|
rs546732183
|
|
|
NM_001035.3(RYR2):c.7624G>A (p.Ala2542Thr)
|
rs373602064
|
|
|
NM_001035.3(RYR2):c.7659T>C (p.Tyr2553=)
|
|
|
|
NM_001035.3(RYR2):c.765G>A (p.Glu255=)
|
rs2149848184
|
|
|
NM_001035.3(RYR2):c.7725T>C (p.Ser2575=)
|
|
|
|
NM_001035.3(RYR2):c.773+14C>G
|
|
|
|
NM_001035.3(RYR2):c.773+8C>A
|
rs1394250066
|
|
|
NM_001035.3(RYR2):c.773+9C>A
|
|
|
|
NM_001035.3(RYR2):c.7733+13C>A
|
|
|
|
NM_001035.3(RYR2):c.7733+8G>C
|
rs1426151116
|
|
|
NM_001035.3(RYR2):c.7733+8G>T
|
|
|
|
NM_001035.3(RYR2):c.7734-15G>A
|
|
|
|
NM_001035.3(RYR2):c.7734-5A>G
|
rs1438144185
|
|
|
NM_001035.3(RYR2):c.7738C>T (p.Leu2580=)
|
|
|
|
NM_001035.3(RYR2):c.774-14G>A
|
rs370114411
|
|
|
NM_001035.3(RYR2):c.774-21TTTG[2]
|
|
|
|
NM_001035.3(RYR2):c.774-8T>C
|
|
|
|
NM_001035.3(RYR2):c.7746T>G (p.Pro2582=)
|
rs1682719111
|
|
|
NM_001035.3(RYR2):c.7762T>C (p.Leu2588=)
|
rs2148804004
|
|
|
NM_001035.3(RYR2):c.7791A>G (p.Pro2597=)
|
|
|
|
NM_001035.3(RYR2):c.7808C>G (p.Ala2603Gly)
|
|
|
|
NM_001035.3(RYR2):c.7824+16G>A
|
rs749424932
|
|
|
NM_001035.3(RYR2):c.7824+18T>C
|
|
|
|
NM_001035.3(RYR2):c.7825-10T>A
|
rs1441653928
|
|
|
NM_001035.3(RYR2):c.7825C>T (p.Leu2609=)
|
rs767568460
|
|
|
NM_001035.3(RYR2):c.7851C>T (p.Cys2617=)
|
rs752625888
|
|
|
NM_001035.3(RYR2):c.7869G>C (p.Leu2623=)
|
|
|
|
NM_001035.3(RYR2):c.786T>C (p.Tyr262=)
|
|
|
|
NM_001035.3(RYR2):c.7896T>C (p.Ala2632=)
|
|
|
|
NM_001035.3(RYR2):c.7902A>G (p.Ser2634=)
|
|
|
|
NM_001035.3(RYR2):c.7929G>A (p.Lys2643=)
|
rs758412310
|
|
|
NM_001035.3(RYR2):c.7954C>T (p.Leu2652=)
|
|
|
|
NM_001035.3(RYR2):c.7959T>C (p.Ser2653=)
|
rs2148817903
|
|
|
NM_001035.3(RYR2):c.7965+20G>A
|
|
|
|
NM_001035.3(RYR2):c.7966-11A>G
|
|
|
|
NM_001035.3(RYR2):c.7966-15C>T
|
|
|
|
NM_001035.3(RYR2):c.7966-16C>T
|
|
|
|
NM_001035.3(RYR2):c.7966-19G>T
|
|
|
|
NM_001035.3(RYR2):c.7966-6T>C
|
rs2148823040
|
|
|
NM_001035.3(RYR2):c.796G>T (p.Ala266Ser)
|
|
|
|
NM_001035.3(RYR2):c.798T>C (p.Ala266=)
|
|
|
|
NM_001035.3(RYR2):c.8013A>T (p.Ala2671=)
|
rs1237709417
|
|
|
NM_001035.3(RYR2):c.8034A>G (p.Pro2678=)
|
rs1292632486
|
|
|
NM_001035.3(RYR2):c.804T>G (p.Ser268=)
|
|
|
|
NM_001035.3(RYR2):c.8070A>G (p.Glu2690=)
|
rs1683203086
|
|
|
NM_001035.3(RYR2):c.8076G>A (p.Gln2692=)
|
rs1425029026
|
|
|
NM_001035.3(RYR2):c.8079A>G (p.Ser2693=)
|
|
|
|
NM_001035.3(RYR2):c.807T>C (p.Val269=)
|
|
|
|
NM_001035.3(RYR2):c.8103T>C (p.Phe2701=)
|
|
|
|
NM_001035.3(RYR2):c.8124C>T (p.Thr2708=)
|
|
|
|
NM_001035.3(RYR2):c.8129+10C>T
|
rs2148823810
|
|
|
NM_001035.3(RYR2):c.8129+14C>T
|
|
|
|
NM_001035.3(RYR2):c.8129+16A>G
|
|
|
|
NM_001035.3(RYR2):c.8129+18T>A
|
|
|
|
NM_001035.3(RYR2):c.8130-12C>A
|
rs1683411144
|
|
|
NM_001035.3(RYR2):c.8130-13A>G
|
|
|
|
NM_001035.3(RYR2):c.8130-7C>T
|
|
|
|
NM_001035.3(RYR2):c.8151G>A (p.Leu2717=)
|
rs1361143892
|
|
|
NM_001035.3(RYR2):c.8157C>T (p.Tyr2719=)
|
|
|
|
NM_001035.3(RYR2):c.81C>G (p.Thr27=)
|
rs919652347
|
|
|
NM_001035.3(RYR2):c.8208+10G>A
|
|
|
|
NM_001035.3(RYR2):c.8208+18T>A
|
rs1340011974
|
|
|
NM_001035.3(RYR2):c.8209-11C>T
|
rs1032335005
|
|
|
NM_001035.3(RYR2):c.8209-12C>T
|
|
|
|
NM_001035.3(RYR2):c.8209-13G>A
|
rs759582222
|
|
|
NM_001035.3(RYR2):c.8209-14T>G
|
|
|
|
NM_001035.3(RYR2):c.8209-6T>C
|
|
|
|
NM_001035.3(RYR2):c.8209-7_8209-4del
|
rs876657992
|
|
|
NM_001035.3(RYR2):c.822T>C (p.Leu274=)
|
|
|
|
NM_001035.3(RYR2):c.8238A>G (p.Ile2746Met)
|
|
|
|
NM_001035.3(RYR2):c.8247C>T (p.Asp2749=)
|
rs878854161
|
|
|
NM_001035.3(RYR2):c.8268A>G (p.Leu2756=)
|
|
|
|
NM_001035.3(RYR2):c.8274G>A (p.Lys2758=)
|
rs1035038004
|
|
|
NM_001035.3(RYR2):c.8277A>G (p.Pro2759=)
|
rs2148841899
|
|
|
NM_001035.3(RYR2):c.8286A>G (p.Leu2762=)
|
rs747555778
|
|
|
NM_001035.3(RYR2):c.8298+17del
|
|
|
|
NM_001035.3(RYR2):c.8298+18_8298+21del
|
rs1269850855
|
|
|
NM_001035.3(RYR2):c.8298+7A>T
|
|
|
|
NM_001035.3(RYR2):c.8322A>C (p.Pro2774=)
|
rs1553272172
|
|
|
NM_001035.3(RYR2):c.834G>A (p.Glu278=)
|
rs776594549
|
|
|
NM_001035.3(RYR2):c.8370A>T (p.Glu2790Asp)
|
|
|
|
NM_001035.3(RYR2):c.8379G>T (p.Arg2793=)
|
|
|
|
NM_001035.3(RYR2):c.837G>T (p.Thr279=)
|
rs769682840
|
|
|
NM_001035.3(RYR2):c.8382G>A (p.Glu2794=)
|
rs1573391972
|
|
|
NM_001035.3(RYR2):c.840A>C (p.Leu280=)
|
rs1473940228
|
|
|
NM_001035.3(RYR2):c.8433C>T (p.Ser2811=)
|
rs1573392353
|
|
|
NM_001035.3(RYR2):c.8436+15C>A
|
|
|
|
NM_001035.3(RYR2):c.8436+16G>A
|
|
|
|
NM_001035.3(RYR2):c.8436+17G>A
|
|
|
|
NM_001035.3(RYR2):c.8437-18T>C
|
rs2148872506
|
|
|
NM_001035.3(RYR2):c.8437-4C>T
|
|
|
|
NM_001035.3(RYR2):c.8437-5T>C
|
|
|
|
NM_001035.3(RYR2):c.8437-7G>C
|
rs770428535
|
|
|
NM_001035.3(RYR2):c.8437-8T>C
|
|
|
|
NM_001035.3(RYR2):c.8439T>G (p.Val2813=)
|
|
|
|
NM_001035.3(RYR2):c.8443G>A (p.Val2815Met)
|
|
|
|
NM_001035.3(RYR2):c.8454C>T (p.Ala2818=)
|
rs916645207
|
|
|
NM_001035.3(RYR2):c.8463C>T (p.Tyr2821=)
|
|
|
|
NM_001035.3(RYR2):c.846T>A (p.Val282=)
|
|
|
|
NM_001035.3(RYR2):c.8475C>A (p.Ala2825=)
|
rs2148872803
|
|
|
NM_001035.3(RYR2):c.848+12T>G
|
|
|
|
NM_001035.3(RYR2):c.848+15T>G
|
|
|
|
NM_001035.3(RYR2):c.848+18A>G
|
|
|
|
NM_001035.3(RYR2):c.849-5A>G
|
|
|
|
NM_001035.3(RYR2):c.8514+10A>T
|
rs2148872974
|
|
|
NM_001035.3(RYR2):c.8514+19T>A
|
|
|
|
NM_001035.3(RYR2):c.8514+23_8514+24dup
|
|
|
|
NM_001035.3(RYR2):c.8514+30_8514+31insATTTAAAAATAGACTATTTAAAAATAGTCT
|
|
|
|
NM_001035.3(RYR2):c.8514+8C>G
|
|
|
|
NM_001035.3(RYR2):c.8515-18T>C
|
|
|
|
NM_001035.3(RYR2):c.8538A>G (p.Glu2846=)
|
rs1187397798
|
|
|
NM_001035.3(RYR2):c.8541C>T (p.Asn2847=)
|
rs2148878456
|
|
|
NM_001035.3(RYR2):c.8550T>C (p.Asn2850=)
|
|
|
|
NM_001035.3(RYR2):c.8565A>G (p.Lys2855=)
|
|
|
|
NM_001035.3(RYR2):c.8590+19G>A
|
|
|
|
NM_001035.3(RYR2):c.8590+19G>T
|
|
|
|
NM_001035.3(RYR2):c.8591-11C>T
|
|
|
|
NM_001035.3(RYR2):c.8591-13G>A
|
|
|
|
NM_001035.3(RYR2):c.8591-5C>G
|
|
|
|
NM_001035.3(RYR2):c.8591-9_8591-8del
|
|
|
|
NM_001035.3(RYR2):c.8595A>C (p.Gly2865=)
|
rs1573463108
|
|
|
NM_001035.3(RYR2):c.8595A>G (p.Gly2865=)
|
rs1573463108
|
|
|
NM_001035.3(RYR2):c.8619C>G (p.Pro2873=)
|
|
|
|
NM_001035.3(RYR2):c.8643G>A (p.Glu2881=)
|
rs749903392
|
|
|
NM_001035.3(RYR2):c.8661A>G (p.Glu2887=)
|
|
|
|
NM_001035.3(RYR2):c.8676C>T (p.Ile2892=)
|
|
|
|
NM_001035.3(RYR2):c.8709A>G (p.Val2903=)
|
|
|
|
NM_001035.3(RYR2):c.8714+11A>G
|
rs1270886614
|
|
|
NM_001035.3(RYR2):c.8714+9A>G
|
rs541149328
|
|
|
NM_001035.3(RYR2):c.8715-10del
|
|
|
|
NM_001035.3(RYR2):c.8715-16A>G
|
|
|
|
NM_001035.3(RYR2):c.8715-16A>T
|
|
|
|
NM_001035.3(RYR2):c.8715-4C>G
|
rs1024126701
|
|
|
NM_001035.3(RYR2):c.8724G>A (p.Lys2908=)
|
|
|
|
NM_001035.3(RYR2):c.8741C>T (p.Thr2914Met)
|
|
|
|
NM_001035.3(RYR2):c.8754G>A (p.Glu2918=)
|
rs2148911647
|
|
|
NM_001035.3(RYR2):c.8757A>G (p.Lys2919=)
|
rs1685252629
|
|
|
NM_001035.3(RYR2):c.8775C>T (p.Phe2925=)
|
|
|
|
NM_001035.3(RYR2):c.8790T>A (p.Ile2930=)
|
|
|
|
NM_001035.3(RYR2):c.882A>G (p.Pro294=)
|
rs1553446366
|
|
|
NM_001035.3(RYR2):c.882A>T (p.Pro294=)
|
|
|
|
NM_001035.3(RYR2):c.8830+10A>G
|
|
|
|
NM_001035.3(RYR2):c.8830+11T>C
|
|
|
|
NM_001035.3(RYR2):c.8831-7T>C
|
rs2148925899
|
|
|
NM_001035.3(RYR2):c.8838C>T (p.Gly2946=)
|
rs758912397
|
|
|
NM_001035.3(RYR2):c.8844A>G (p.Arg2948=)
|
|
|
|
NM_001035.3(RYR2):c.8849A>G (p.Lys2950Arg)
|
|
|
|
NM_001035.3(RYR2):c.8862C>T (p.Phe2954=)
|
rs2148926083
|
|
|
NM_001035.3(RYR2):c.8880C>T (p.Ile2960=)
|
rs1573480855
|
|
|
NM_001035.3(RYR2):c.888A>G (p.Arg296=)
|
rs1263386810
|
|
|
NM_001035.3(RYR2):c.8892A>T (p.Ala2964=)
|
rs1230616298
|
|
|
NM_001035.3(RYR2):c.8895+13A>G
|
|
|
|
NM_001035.3(RYR2):c.8895+15C>G
|
|
|
|
NM_001035.3(RYR2):c.8895+17_8895+20del
|
|
|
|
NM_001035.3(RYR2):c.8895+7T>C
|
rs2148926350
|
|
|
NM_001035.3(RYR2):c.8896-17C>A
|
|
|
|
NM_001035.3(RYR2):c.8896-17_8896-15del
|
|
|
|
NM_001035.3(RYR2):c.8896-18T>G
|
|
|
|
NM_001035.3(RYR2):c.8898C>T (p.Val2966=)
|
rs766514100
|
|
|
NM_001035.3(RYR2):c.8907T>C (p.Pro2969=)
|
|
|
|
NM_001035.3(RYR2):c.8919G>A (p.Gln2973=)
|
rs1281776816
|
|
|
NM_001035.3(RYR2):c.8991C>T (p.Ser2997=)
|
|
|
|
NM_001035.3(RYR2):c.900C>T (p.Val300=)
|
rs2150058236
|
|
|
NM_001035.3(RYR2):c.9017+15A>G
|
|
|
|
NM_001035.3(RYR2):c.9017+16A>T
|
|
|
|
NM_001035.3(RYR2):c.9018-17_9018-7del
|
rs1686523446
|
|
|
NM_001035.3(RYR2):c.9042T>A (p.Leu3014=)
|
|
|
|
NM_001035.3(RYR2):c.9048G>A (p.Arg3016=)
|
|
|
|
NM_001035.3(RYR2):c.9067+11C>T
|
|
|
|
NM_001035.3(RYR2):c.9067+17A>C
|
|
|
|
NM_001035.3(RYR2):c.9067+18A>G
|
|
|
|
NM_001035.3(RYR2):c.9068-18A>C
|
rs1036402862
|
|
|
NM_001035.3(RYR2):c.9068-6C>G
|
|
|
|
NM_001035.3(RYR2):c.9068-9C>G
|
rs2149026201
|
|
|
NM_001035.3(RYR2):c.9069C>T (p.Gly3023=)
|
|
|
|
NM_001035.3(RYR2):c.90A>G (p.Lys30=)
|
rs1366634657
|
|
|
NM_001035.3(RYR2):c.9105T>C (p.Ile3035=)
|
rs1687732005
|
|
|
NM_001035.3(RYR2):c.9129-10T>A
|
rs876657993
|
|
|
NM_001035.3(RYR2):c.9129-7T>C
|
rs1466669135
|
|
|
NM_001035.3(RYR2):c.9129-7T>G
|
rs1466669135
|
|
|
NM_001035.3(RYR2):c.9135G>A (p.Val3045=)
|
rs2149031134
|
|
|
NM_001035.3(RYR2):c.9159T>A (p.Val3053=)
|
|
|
|
NM_001035.3(RYR2):c.916T>C (p.Leu306=)
|
rs1159486360
|
|
|
NM_001035.3(RYR2):c.9174A>G (p.Arg3058=)
|
rs1050820001
|
|
|
NM_001035.3(RYR2):c.9222C>T (p.Asn3074=)
|
|
|
|
NM_001035.3(RYR2):c.9231G>A (p.Gln3077=)
|
rs2149031536
|
|
|
NM_001035.3(RYR2):c.9234C>A (p.Gly3078=)
|
|
|
|
NM_001035.3(RYR2):c.9237G>A (p.Gln3079=)
|
|
|
|
NM_001035.3(RYR2):c.9250C>A (p.Arg3084=)
|
rs1356957973
|
|
|
NM_001035.3(RYR2):c.9318T>A (p.Ser3106=)
|
rs2797436
|
|
|
NM_001035.3(RYR2):c.9321A>G (p.Ser3107=)
|
|
|
|
NM_001035.3(RYR2):c.9324A>G (p.Leu3108=)
|
rs1687865785
|
|
|
NM_001035.3(RYR2):c.9333T>C (p.His3111=)
|
rs965167497
|
|
|
NM_001035.3(RYR2):c.9336T>C (p.Ile3112=)
|
rs748626622
|
|
|
NM_001035.3(RYR2):c.9367+16T>A
|
rs775099398
|
|
|
NM_001035.3(RYR2):c.9367+20G>T
|
|
|
|
NM_001035.3(RYR2):c.9368-12C>G
|
|
|
|
NM_001035.3(RYR2):c.9368-13T>C
|
|
|
|
NM_001035.3(RYR2):c.9368-16T>A
|
|
|
|
NM_001035.3(RYR2):c.9368-4T>A
|
rs755202469
|
|
|
NM_001035.3(RYR2):c.9375T>C (p.Asp3125=)
|
|
|
|
NM_001035.3(RYR2):c.9384G>A (p.Val3128=)
|
rs1225100895
|
|
|
NM_001035.3(RYR2):c.9387T>C (p.Ser3129=)
|
rs1688006622
|
|
|
NM_001035.3(RYR2):c.9393T>C (p.Tyr3131=)
|
|
|
|
NM_001035.3(RYR2):c.9402G>C (p.Leu3134=)
|
rs1688007851
|
|
|
NM_001035.3(RYR2):c.9408C>T (p.Ser3136=)
|
rs1688008727
|
|
|
NM_001035.3(RYR2):c.9411A>G (p.Leu3137=)
|
|
|
|
NM_001035.3(RYR2):c.9417T>G (p.Ala3139=)
|
rs765394638
|
|
|
NM_001035.3(RYR2):c.9449+15_9449+21del
|
|
|
|
NM_001035.3(RYR2):c.9450-15A>G
|
|
|
|
NM_001035.3(RYR2):c.9450-19A>G
|
|
|
|
NM_001035.3(RYR2):c.9450-4A>C
|
rs1006436726
|
|
|
NM_001035.3(RYR2):c.9465A>G (p.Leu3155=)
|
rs1688273184
|
|
|
NM_001035.3(RYR2):c.9477A>G (p.Leu3159=)
|
rs967916943
|
|
|
NM_001035.3(RYR2):c.9495T>G (p.Ala3165=)
|
|
|
|
NM_001035.3(RYR2):c.9501T>A (p.Pro3167=)
|
|
|
|
NM_001035.3(RYR2):c.9522T>A (p.His3174Gln)
|
|
|
|
NM_001035.3(RYR2):c.9552C>T (p.Tyr3184=)
|
rs1321006730
|
|
|
NM_001035.3(RYR2):c.957A>G (p.Lys319=)
|
|
|
|
NM_001035.3(RYR2):c.9580+18G>T
|
|
|
|
NM_001035.3(RYR2):c.9580+19C>T
|
|
|
|
NM_001035.3(RYR2):c.9580+8A>G
|
|
|
|
NM_001035.3(RYR2):c.9581-15T>C
|
|
|
|
NM_001035.3(RYR2):c.9581-16A>G
|
|
|
|
NM_001035.3(RYR2):c.9581-4C>T
|
|
|
|
NM_001035.3(RYR2):c.9581-8T>C
|
rs1558258551
|
|
|
NM_001035.3(RYR2):c.9581-9C>T
|
rs2149057929
|
|
|
NM_001035.3(RYR2):c.9594A>G (p.Pro3198=)
|
rs1448241605
|
|
|
NM_001035.3(RYR2):c.9600T>C (p.Asn3200=)
|
rs772853405
|
|
|
NM_001035.3(RYR2):c.960G>A (p.Glu320=)
|
rs1572253938
|
|
|
NM_001035.3(RYR2):c.9618A>C (p.Pro3206=)
|
rs1314966595
|
|
|
NM_001035.3(RYR2):c.9618A>G (p.Pro3206=)
|
rs1314966595
|
|
|
NM_001035.3(RYR2):c.9654C>T (p.Ile3218=)
|
rs1472161324
|
|
|
NM_001035.3(RYR2):c.9657G>A (p.Val3219=)
|
|
|
|
NM_001035.3(RYR2):c.9684C>T (p.Tyr3228=)
|
|
|
|
NM_001035.3(RYR2):c.9699T>C (p.His3233=)
|
|
|
|
NM_001035.3(RYR2):c.9711C>T (p.Val3237=)
|
|
|
|
NM_001035.3(RYR2):c.972A>G (p.Val324=)
|
|
|
|
NM_001035.3(RYR2):c.9732C>T (p.Ser3244=)
|
|
|
|
NM_001035.3(RYR2):c.9756T>C (p.His3252=)
|
rs2149059008
|
|
|
NM_001035.3(RYR2):c.9759A>C (p.Gly3253=)
|
rs1553293285
|
|
|
NM_001035.3(RYR2):c.9762T>C (p.Pro3254=)
|
rs764355636
|
|
|
NM_001035.3(RYR2):c.9770A>G (p.Asn3257Ser)
|
rs1167753426
|
|
|
NM_001035.3(RYR2):c.9784G>A (p.Glu3262Lys)
|
|
|
|
NM_001035.3(RYR2):c.9807C>T (p.Asn3269=)
|
rs1553293326
|
|
|
NM_001035.3(RYR2):c.9816C>T (p.His3272=)
|
rs2149059346
|
|
|
NM_001035.3(RYR2):c.9852A>T (p.Ile3284=)
|
|
|
|
NM_001035.3(RYR2):c.9897A>G (p.Leu3299=)
|
|
|
|
NM_001035.3(RYR2):c.9901+19C>G
|
rs1226976865
|
|
|
NM_001035.3(RYR2):c.9901+9T>A
|
rs1553293394
|
|
|
NM_001035.3(RYR2):c.9902-17T>C
|
|
|
|
NM_001035.3(RYR2):c.9943T>C (p.Leu3315=)
|
rs2149066640
|
|
|
NM_001035.3(RYR2):c.9951T>C (p.Thr3317=)
|
|
|
|
NM_001035.3(RYR2):c.9954T>C (p.His3318=)
|
rs371965471
|
|
|
NM_001035.3(RYR2):c.9978C>G (p.Leu3326=)
|
|
|
|
NM_001035.3(RYR2):c.998C>T (p.Ser333Phe)
|
rs397516552
|
|
|
NM_001035.3(RYR2):c.9996G>C (p.Thr3332=)
|
|
|
|
NM_001035.3(RYR2):c.9999G>A (p.Val3333=)
|
|
|
|
NM_001103.4(ACTN2):c.1005G>A (p.Val335=)
|
|
|
|
NM_001103.4(ACTN2):c.1011G>A (p.Glu337=)
|
|
|
|
NM_001103.4(ACTN2):c.1025A>G (p.Glu342Gly)
|
rs1234368540
|
|
|
NM_001103.4(ACTN2):c.1032C>T (p.Asn344=)
|
rs764202471
|
|
|
NM_001103.4(ACTN2):c.1041G>A (p.Thr347=)
|
|
|
|
NM_001103.4(ACTN2):c.1047G>A (p.Gln349=)
|
|
|
|
NM_001103.4(ACTN2):c.1056G>A (p.Leu352=)
|
rs2102922642
|
|
|
NM_001103.4(ACTN2):c.1098G>C (p.Lys366Asn)
|
rs1243320734
|
|
|
NM_001103.4(ACTN2):c.1104G>A (p.Val368=)
|
rs397516563
|
|
|
NM_001103.4(ACTN2):c.1107+12G>A
|
|
|
|
NM_001103.4(ACTN2):c.1107+13C>T
|
|
|
|
NM_001103.4(ACTN2):c.1107+15C>T
|
rs1392352816
|
|
|
NM_001103.4(ACTN2):c.1107+17A>G
|
|
|
|
NM_001103.4(ACTN2):c.1107+18A>C
|
|
|
|
NM_001103.4(ACTN2):c.1107+19G>A
|
rs2102922750
|
|
|
NM_001103.4(ACTN2):c.1107+7A>G
|
rs1394794170
|
|
|
NM_001103.4(ACTN2):c.1108-20T>G
|
|
|
|
NM_001103.4(ACTN2):c.1115C>G (p.Ala372Gly)
|
|
|
|
NM_001103.4(ACTN2):c.1130G>A (p.Arg377Lys)
|
rs1325419598
|
|
|
NM_001103.4(ACTN2):c.1149G>A (p.Lys383=)
|
|
|
|
NM_001103.4(ACTN2):c.1161G>A (p.Glu387=)
|
rs1488282189
|
|
|
NM_001103.4(ACTN2):c.1165T>C (p.Leu389=)
|
|
|
|
NM_001103.4(ACTN2):c.1176G>A (p.Glu392=)
|
|
|
|
NM_001103.4(ACTN2):c.1239C>T (p.His413=)
|
rs771579640
|
|
|
NM_001103.4(ACTN2):c.1255+8G>T
|
rs1422637812
|
|
|
NM_001103.4(ACTN2):c.1256-11C>T
|
|
|
|
NM_001103.4(ACTN2):c.1256-15C>T
|
|
|
|
NM_001103.4(ACTN2):c.1256-20T>C
|
|
|
|
NM_001103.4(ACTN2):c.1256-4G>A
|
|
|
|
NM_001103.4(ACTN2):c.1256-9C>A
|
|
|
|
NM_001103.4(ACTN2):c.126+13C>G
|
rs1440134547
|
|
|
NM_001103.4(ACTN2):c.126+21_126+56del
|
rs1430117043
|
|
|
NM_001103.4(ACTN2):c.127-11T>G
|
|
|
|
NM_001103.4(ACTN2):c.127-15T>C
|
|
|
|
NM_001103.4(ACTN2):c.1272G>A (p.Leu424=)
|
rs1060504998
|
|
|
NM_001103.4(ACTN2):c.1278G>A (p.Gln426=)
|
rs397516565
|
|
|
NM_001103.4(ACTN2):c.1302G>T (p.Leu434=)
|
rs2102929881
|
|
|
NM_001103.4(ACTN2):c.1311G>A (p.Val437=)
|
rs886038902
|
|
|
NM_001103.4(ACTN2):c.1342G>C (p.Glu448Gln)
|
rs764031568
|
|
|
NM_001103.4(ACTN2):c.1359G>C (p.Ala453=)
|
rs780174131
|
|
|
NM_001103.4(ACTN2):c.1362C>T (p.His454=)
|
|
|
|
NM_001103.4(ACTN2):c.1368C>T (p.Asp456=)
|
|
|
|
NM_001103.4(ACTN2):c.1371C>G (p.Arg457=)
|
rs114008185
|
|
|
NM_001103.4(ACTN2):c.1377G>A (p.Glu459=)
|
|
|
|
NM_001103.4(ACTN2):c.1394C>T (p.Ala465Val)
|
|
|
|
NM_001103.4(ACTN2):c.1395G>T (p.Ala465=)
|
rs750674913
|
|
|
NM_001103.4(ACTN2):c.1406+18C>T
|
rs571362372
|
|
|
NM_001103.4(ACTN2):c.1406+19C>T
|
rs755509475
|
|
|
NM_001103.4(ACTN2):c.1407-12C>A
|
|
|
|
NM_001103.4(ACTN2):c.1407-15T>G
|
|
|
|
NM_001103.4(ACTN2):c.1416C>T (p.Asp472=)
|
|
|
|
NM_001103.4(ACTN2):c.1420C>T (p.His474Tyr)
|
rs1246910938
|
|
|
NM_001103.4(ACTN2):c.1426G>T (p.Ala476Ser)
|
rs142943120
|
|
|
NM_001103.4(ACTN2):c.1434T>C (p.Asn478=)
|
|
|
|
NM_001103.4(ACTN2):c.1444C>A (p.Arg482=)
|
|
|
|
NM_001103.4(ACTN2):c.1444C>T (p.Arg482Trp)
|
rs199604590
|
|
|
NM_001103.4(ACTN2):c.1452G>C (p.Gln484His)
|
rs200529923
|
|
|
NM_001103.4(ACTN2):c.1498A>C (p.Arg500=)
|
rs1659280898
|
|
|
NM_001103.4(ACTN2):c.1510C>T (p.Leu504=)
|
rs2102934712
|
|
|
NM_001103.4(ACTN2):c.1524G>A (p.Glu508=)
|
rs772606052
|
|
|
NM_001103.4(ACTN2):c.1533A>G (p.Leu511=)
|
|
|
|
NM_001103.4(ACTN2):c.153C>T (p.His51=)
|
rs1057523501
|
|
|
NM_001103.4(ACTN2):c.1557G>A (p.Leu519=)
|
rs1057523732
|
|
|
NM_001103.4(ACTN2):c.1566C>T (p.Ala522=)
|
rs1060504996
|
|
|
NM_001103.4(ACTN2):c.156A>T (p.Leu52=)
|
|
|
|
NM_001103.4(ACTN2):c.1578T>C (p.Ala526=)
|
rs1037951773
|
|
|
NM_001103.4(ACTN2):c.1587C>T (p.Asn529=)
|
|
|
|
NM_001103.4(ACTN2):c.1599G>A (p.Glu533=)
|
|
|
|
NM_001103.4(ACTN2):c.1602C>T (p.Gly534=)
|
|
|
|
NM_001103.4(ACTN2):c.1603G>A (p.Ala535Thr)
|
|
|
|
NM_001103.4(ACTN2):c.1604C>T (p.Ala535Val)
|
|
|
|
NM_001103.4(ACTN2):c.1615C>T (p.Leu539=)
|
rs2102936547
|
|
|
NM_001103.4(ACTN2):c.1625T>C (p.Met542Thr)
|
rs778713804
|
|
|
NM_001103.4(ACTN2):c.1656+10C>T
|
|
|
|
NM_001103.4(ACTN2):c.1656+12G>A
|
|
|
|
NM_001103.4(ACTN2):c.1656+12G>T
|
rs768816601
|
|
|
NM_001103.4(ACTN2):c.1656+16del
|
|
|
|
NM_001103.4(ACTN2):c.1656+20_1656+21del
|
|
|
|
NM_001103.4(ACTN2):c.1657-19A>C
|
rs1182422103
|
|
|
NM_001103.4(ACTN2):c.1657-3dup
|
|
|
|
NM_001103.4(ACTN2):c.1657-6G>A
|
rs1328857189
|
|
|
NM_001103.4(ACTN2):c.1671G>T (p.Ala557=)
|
rs772691130
|
|
|
NM_001103.4(ACTN2):c.1674T>C (p.His558=)
|
rs2102939461
|
|
|
NM_001103.4(ACTN2):c.1683C>T (p.Phe561=)
|
rs2102939469
|
|
|
NM_001103.4(ACTN2):c.1692G>A (p.Thr564=)
|
rs1384379468
|
|
|
NM_001103.4(ACTN2):c.1704G>A (p.Ala568=)
|
rs369560444
|
|
|
NM_001103.4(ACTN2):c.1704G>T (p.Ala568=)
|
|
|
|
NM_001103.4(ACTN2):c.1710A>C (p.Gly570=)
|
|
|
|
NM_001103.4(ACTN2):c.1716G>A (p.Arg572=)
|
rs1248687374
|
|
|
NM_001103.4(ACTN2):c.171C>A (p.Thr57=)
|
|
|
|
NM_001103.4(ACTN2):c.1738A>G (p.Asn580Asp)
|
|
|
|
NM_001103.4(ACTN2):c.1740C>T (p.Asn580=)
|
rs3738546
|
|
|
NM_001103.4(ACTN2):c.1748A>C (p.Glu583Ala)
|
rs200631005
|
|
|
NM_001103.4(ACTN2):c.1761G>A (p.Gln587=)
|
rs770066690
|
|
|
NM_001103.4(ACTN2):c.1770C>T (p.Asn590=)
|
rs773404041
|
|
|
NM_001103.4(ACTN2):c.1771A>G (p.Ile591Val)
|
rs377650301
|
|
|
NM_001103.4(ACTN2):c.1778T>C (p.Ile593Thr)
|
|
|
|
NM_001103.4(ACTN2):c.1788C>T (p.Ser596=)
|
|
|
|
NM_001103.4(ACTN2):c.1793C>T (p.Pro598Leu)
|
|
|
|
NM_001103.4(ACTN2):c.1794G>C (p.Pro598=)
|
rs137890030
|
|
|
NM_001103.4(ACTN2):c.1797C>T (p.Tyr599=)
|
rs1553303873
|
|
|
NM_001103.4(ACTN2):c.1836C>T (p.Asp612=)
|
|
|
|
NM_001103.4(ACTN2):c.1839+13G>C
|
|
|
|
NM_001103.4(ACTN2):c.1839+15del
|
|
|
|
NM_001103.4(ACTN2):c.1839+18T>C
|
|
|
|
NM_001103.4(ACTN2):c.1839+20G>C
|
rs1355785096
|
|
|
NM_001103.4(ACTN2):c.1840-10G>T
|
rs1287403917
|
|
|
NM_001103.4(ACTN2):c.1840-11G>C
|
|
|
|
NM_001103.4(ACTN2):c.1840-11G>T
|
|
|
|
NM_001103.4(ACTN2):c.1840-5G>A
|
rs2102942477
|
|
|
NM_001103.4(ACTN2):c.1842G>C (p.Val614=)
|
|
|
|
NM_001103.4(ACTN2):c.1851C>G (p.Leu617=)
|
rs752499285
|
|
|
NM_001103.4(ACTN2):c.1851C>T (p.Leu617=)
|
|
|
|
NM_001103.4(ACTN2):c.1857C>T (p.Pro619=)
|
rs1659474774
|
|
|
NM_001103.4(ACTN2):c.1861C>T (p.Arg621Cys)
|
rs756407851
|
|
|
NM_001103.4(ACTN2):c.1873C>T (p.Leu625=)
|
|
|
|
NM_001103.4(ACTN2):c.1888G>A (p.Ala630Thr)
|
rs1338074315
|
|
|
NM_001103.4(ACTN2):c.189G>A (p.Glu63=)
|
rs2102893488
|
|
|
NM_001103.4(ACTN2):c.1969A>T (p.Met657Leu)
|
|
|
|
NM_001103.4(ACTN2):c.1974+12C>T
|
|
|
|
NM_001103.4(ACTN2):c.1974+14C>T
|
rs1659481365
|
|
|
NM_001103.4(ACTN2):c.1974+20G>T
|
|
|
|
NM_001103.4(ACTN2):c.1975-10C>T
|
|
|
|
NM_001103.4(ACTN2):c.1975-11G>A
|
|
|
|
NM_001103.4(ACTN2):c.1975-13_1975-9del
|
|
|
|
NM_001103.4(ACTN2):c.1975-5C>A
|
rs369148572
|
|
|
NM_001103.4(ACTN2):c.1975-5C>T
|
|
|
|
NM_001103.4(ACTN2):c.1975-6C>A
|
rs201255023
|
|
|
NM_001103.4(ACTN2):c.1975-6C>T
|
rs201255023
|
|
|
NM_001103.4(ACTN2):c.1975-7C>A
|
rs756874090
|
|
|
NM_001103.4(ACTN2):c.1975-8C>T
|
rs375957369
|
|
|
NM_001103.4(ACTN2):c.1982C>T (p.Ala661Val)
|
|
|
|
NM_001103.4(ACTN2):c.2007A>C (p.Gly669=)
|
rs1572146383
|
|
|
NM_001103.4(ACTN2):c.2010C>T (p.Ala670=)
|
|
|
|
NM_001103.4(ACTN2):c.2016A>G (p.Glu672=)
|
|
|
|
NM_001103.4(ACTN2):c.2036A>G (p.Lys679Arg)
|
|
|
|
NM_001103.4(ACTN2):c.2051A>T (p.Asn684Ile)
|
rs576783493
|
|
|
NM_001103.4(ACTN2):c.2056A>G (p.Ile686Val)
|
|
|
|
NM_001103.4(ACTN2):c.2085G>A (p.Leu695=)
|
|
|
|
NM_001103.4(ACTN2):c.2088G>A (p.Glu696=)
|
|
|
|
NM_001103.4(ACTN2):c.2112G>A (p.Glu704=)
|
rs544721025
|
|
|
NM_001103.4(ACTN2):c.2127C>T (p.Asp709=)
|
rs556612523
|
|
|
NM_001103.4(ACTN2):c.2154+12A>G
|
rs925735821
|
|
|
NM_001103.4(ACTN2):c.2154+16A>C
|
|
|
|
NM_001103.4(ACTN2):c.2154+19C>A
|
rs1484623448
|
|
|
NM_001103.4(ACTN2):c.2154+20G>A
|
|
|
|
NM_001103.4(ACTN2):c.2155-10C>G
|
rs1553304725
|
|
|
NM_001103.4(ACTN2):c.2155-13T>C
|
|
|
|
NM_001103.4(ACTN2):c.2155-13_2155-7del
|
rs1299215367
|
|
|
NM_001103.4(ACTN2):c.2155-6C>G
|
rs1286546196
|
|
|
NM_001103.4(ACTN2):c.2155-8C>T
|
|
|
|
NM_001103.4(ACTN2):c.2160T>A (p.Ile720=)
|
|
|
|
NM_001103.4(ACTN2):c.216C>A (p.Leu72=)
|
rs1572112476
|
|
|
NM_001103.4(ACTN2):c.216C>G (p.Leu72=)
|
|
|
|
NM_001103.4(ACTN2):c.2175G>A (p.Glu725=)
|
|
|
|
NM_001103.4(ACTN2):c.2178G>C (p.Leu726=)
|
|
|
|
NM_001103.4(ACTN2):c.2178G>T (p.Leu726=)
|
|
|
|
NM_001103.4(ACTN2):c.2181G>T (p.Leu727=)
|
rs878854173
|
|
|
NM_001103.4(ACTN2):c.2190C>T (p.Thr730=)
|
|
|
|
NM_001103.4(ACTN2):c.21C>T (p.Gly7=)
|
rs1387972965
|
|
|
NM_001103.4(ACTN2):c.2211G>T (p.Glu737Asp)
|
|
|
|
NM_001103.4(ACTN2):c.2214G>A (p.Val738=)
|
|
|
|
NM_001103.4(ACTN2):c.2227C>T (p.Leu743=)
|
rs1321954523
|
|
|
NM_001103.4(ACTN2):c.2232G>T (p.Thr744=)
|
|
|
|
NM_001103.4(ACTN2):c.2241G>T (p.Ala747=)
|
|
|
|
NM_001103.4(ACTN2):c.2264T>C (p.Met755Thr)
|
|
|
|
NM_001103.4(ACTN2):c.2292C>T (p.His764=)
|
|
|
|
NM_001103.4(ACTN2):c.22G>A (p.Val8Met)
|
rs551141480
|
|
|
NM_001103.4(ACTN2):c.2301+11C>T
|
|
|
|
NM_001103.4(ACTN2):c.2301+7C>G
|
rs2102947215
|
|
|
NM_001103.4(ACTN2):c.2302-18del
|
|
|
|
NM_001103.4(ACTN2):c.2302-9T>C
|
|
|
|
NM_001103.4(ACTN2):c.2304G>A (p.Arg768=)
|
|
|
|
NM_001103.4(ACTN2):c.2316G>A (p.Leu772=)
|
|
|
|
NM_001103.4(ACTN2):c.2324A>T (p.His775Leu)
|
rs147616930
|
|
|
NM_001103.4(ACTN2):c.2325T>C (p.His775=)
|
|
|
|
NM_001103.4(ACTN2):c.2344C>T (p.Leu782=)
|
|
|
|
NM_001103.4(ACTN2):c.2349T>A (p.Ile783=)
|
rs2102949992
|
|
|
NM_001103.4(ACTN2):c.2352C>T (p.Ser784=)
|
|
|
|
NM_001103.4(ACTN2):c.2367+11del
|
|
|
|
NM_001103.4(ACTN2):c.2367+17A>G
|
rs1436438725
|
|
|
NM_001103.4(ACTN2):c.2368-12A>G
|
|
|
|
NM_001103.4(ACTN2):c.2368-8T>C
|
|
|
|
NM_001103.4(ACTN2):c.2388C>T (p.Arg796=)
|
|
|
|
NM_001103.4(ACTN2):c.241+12A>G
|
|
|
|
NM_001103.4(ACTN2):c.241+16C>T
|
|
|
|
NM_001103.4(ACTN2):c.241+18C>T
|
|
|
|
NM_001103.4(ACTN2):c.242-14T>G
|
|
|
|
NM_001103.4(ACTN2):c.242-15C>T
|
|
|
|
NM_001103.4(ACTN2):c.242-20A>T
|
|
|
|
NM_001103.4(ACTN2):c.242-4A>T
|
|
|
|
NM_001103.4(ACTN2):c.242-9A>G
|
|
|
|
NM_001103.4(ACTN2):c.2423C>G (p.Thr808Ser)
|
rs148833906
|
|
|
NM_001103.4(ACTN2):c.2423C>T (p.Thr808Ile)
|
rs148833906
|
|
|
NM_001103.4(ACTN2):c.2427C>A (p.Val809=)
|
|
|
|
NM_001103.4(ACTN2):c.2430C>A (p.Thr810=)
|
|
|
|
NM_001103.4(ACTN2):c.2463G>A (p.Glu821=)
|
|
|
|
NM_001103.4(ACTN2):c.2466G>A (p.Thr822=)
|
rs746365850
|
|
|
NM_001103.4(ACTN2):c.2506C>T (p.Arg836Trp)
|
|
|
|
NM_001103.4(ACTN2):c.2508G>A (p.Arg836=)
|
rs2102951896
|
|
|
NM_001103.4(ACTN2):c.2520T>C (p.Ser840=)
|
|
|
|
NM_001103.4(ACTN2):c.2526+7A>G
|
|
|
|
NM_001103.4(ACTN2):c.2527-17T>A
|
rs977332742
|
|
|
NM_001103.4(ACTN2):c.2587A>G (p.Ile863Val)
|
rs397516577
|
|
|
NM_001103.4(ACTN2):c.2616A>G (p.Pro872=)
|
rs1572153472
|
|
|
NM_001103.4(ACTN2):c.2617G>C (p.Gly873Arg)
|
|
|
|
NM_001103.4(ACTN2):c.2619C>A (p.Gly873=)
|
rs1060504995
|
|
|
NM_001103.4(ACTN2):c.2628T>G (p.Pro876=)
|
rs1572153502
|
|
|
NM_001103.4(ACTN2):c.30C>T (p.Tyr10=)
|
rs2102851277
|
|
|
NM_001103.4(ACTN2):c.318C>T (p.Tyr106=)
|
rs973145308
|
|
|
NM_001103.4(ACTN2):c.333G>A (p.Gly111=)
|
|
|
|
NM_001103.4(ACTN2):c.340C>T (p.Leu114=)
|
|
|
|
NM_001103.4(ACTN2):c.361+10G>A
|
rs1572113545
|
|
|
NM_001103.4(ACTN2):c.361+18T>C
|
rs374362248
|
|
|
NM_001103.4(ACTN2):c.361+19G>A
|
rs202213263
|
|
|
NM_001103.4(ACTN2):c.362-16_362-13dup
|
|
|
|
NM_001103.4(ACTN2):c.362-19G>A
|
|
|
|
NM_001103.4(ACTN2):c.362-4G>A
|
rs1014042332
|
|
|
NM_001103.4(ACTN2):c.362-5T>C
|
|
|
|
NM_001103.4(ACTN2):c.363A>G (p.Glu121=)
|
|
|
|
NM_001103.4(ACTN2):c.36C>T (p.Tyr12=)
|
rs1302783639
|
|
|
NM_001103.4(ACTN2):c.414C>T (p.Ile138=)
|
rs1572114654
|
|
|
NM_001103.4(ACTN2):c.423T>C (p.Phe141=)
|
|
|
|
NM_001103.4(ACTN2):c.448+10A>G
|
|
|
|
NM_001103.4(ACTN2):c.448+11T>C
|
|
|
|
NM_001103.4(ACTN2):c.449-17C>G
|
|
|
|
NM_001103.4(ACTN2):c.449-19T>C
|
rs1404915702
|
|
|
NM_001103.4(ACTN2):c.449-7A>G
|
|
|
|
NM_001103.4(ACTN2):c.46G>A (p.Glu16Lys)
|
|
|
|
NM_001103.4(ACTN2):c.472C>T (p.Leu158=)
|
rs892147948
|
|
|
NM_001103.4(ACTN2):c.492A>G (p.Lys164=)
|
rs2102904298
|
|
|
NM_001103.4(ACTN2):c.498T>C (p.Ala166=)
|
|
|
|
NM_001103.4(ACTN2):c.501T>C (p.Pro167=)
|
rs1658537995
|
|
|
NM_001103.4(ACTN2):c.504T>C (p.Tyr168=)
|
|
|
|
NM_001103.4(ACTN2):c.506G>C (p.Arg169Thr)
|
rs727505146
|
|
|
NM_001103.4(ACTN2):c.528C>T (p.Phe176=)
|
rs2102904360
|
|
|
NM_001103.4(ACTN2):c.534T>G (p.Thr178=)
|
rs1572120178
|
|
|
NM_001103.4(ACTN2):c.536+15C>T
|
rs2102904399
|
|
|
NM_001103.4(ACTN2):c.536+16C>T
|
|
|
|
NM_001103.4(ACTN2):c.536+17C>T
|
|
|
|
NM_001103.4(ACTN2):c.536+8C>A
|
|
|
|
NM_001103.4(ACTN2):c.537-11_537-3del
|
|
|
|
NM_001103.4(ACTN2):c.537-13G>A
|
|
|
|
NM_001103.4(ACTN2):c.537-15T>C
|
rs2102906416
|
|
|
NM_001103.4(ACTN2):c.537-6G>A
|
|
|
|
NM_001103.4(ACTN2):c.549C>T (p.Gly183=)
|
rs1060504997
|
|
|
NM_001103.4(ACTN2):c.570C>T (p.Ile190=)
|
rs762515240
|
|
|
NM_001103.4(ACTN2):c.582G>T (p.Arg194=)
|
rs767283256
|
|
|
NM_001103.4(ACTN2):c.615+13G>A
|
|
|
|
NM_001103.4(ACTN2):c.616-15T>C
|
|
|
|
NM_001103.4(ACTN2):c.616-6A>T
|
|
|
|
NM_001103.4(ACTN2):c.636T>C (p.Ile212=)
|
|
|
|
NM_001103.4(ACTN2):c.667C>T (p.Leu223=)
|
rs778336485
|
|
|
NM_001103.4(ACTN2):c.669G>T (p.Leu223=)
|
|
|
|
NM_001103.4(ACTN2):c.697+13T>C
|
|
|
|
NM_001103.4(ACTN2):c.698-13T>C
|
|
|
|
NM_001103.4(ACTN2):c.698-6C>T
|
|
|
|
NM_001103.4(ACTN2):c.698-7C>T
|
|
|
|
NM_001103.4(ACTN2):c.698-8C>T
|
|
|
|
NM_001103.4(ACTN2):c.702C>T (p.Ile234=)
|
|
|
|
NM_001103.4(ACTN2):c.705G>A (p.Val235=)
|
rs2288599
|
|
|
NM_001103.4(ACTN2):c.723T>C (p.Asp241=)
|
|
|
|
NM_001103.4(ACTN2):c.741G>T (p.Thr247=)
|
|
|
|
NM_001103.4(ACTN2):c.771G>T (p.Ala257=)
|
rs201545916
|
|
|
NM_001103.4(ACTN2):c.783+10A>G
|
rs751099532
|
|
|
NM_001103.4(ACTN2):c.783+11C>G
|
|
|
|
NM_001103.4(ACTN2):c.783+16C>G
|
rs754416848
|
|
|
NM_001103.4(ACTN2):c.783+17del
|
rs1658852830
|
|
|
NM_001103.4(ACTN2):c.783+18G>A
|
|
|
|
NM_001103.4(ACTN2):c.783+7A>G
|
rs2102917149
|
|
|
NM_001103.4(ACTN2):c.784-9G>A
|
rs2102919099
|
|
|
NM_001103.4(ACTN2):c.786C>T (p.Ala262=)
|
rs201636760
|
|
|
NM_001103.4(ACTN2):c.792A>G (p.Thr264=)
|
|
|
|
NM_001103.4(ACTN2):c.804G>A (p.Arg268=)
|
|
|
|
NM_001103.4(ACTN2):c.819T>C (p.Leu273=)
|
rs2102919152
|
|
|
NM_001103.4(ACTN2):c.834G>A (p.Glu278=)
|
rs1658904821
|
|
|
NM_001103.4(ACTN2):c.876+11C>T
|
|
|
|
NM_001103.4(ACTN2):c.876+14_876+21dup
|
|
|
|
NM_001103.4(ACTN2):c.876+17A>G
|
|
|
|
NM_001103.4(ACTN2):c.877-9G>C
|
|
|
|
NM_001103.4(ACTN2):c.894T>C (p.Arg298=)
|
rs2102922372
|
|
|
NM_001103.4(ACTN2):c.914A>C (p.Glu305Ala)
|
|
|
|
NM_001103.4(ACTN2):c.915G>A (p.Glu305=)
|
rs2102922429
|
|
|
NM_001103.4(ACTN2):c.936C>G (p.Thr312=)
|
|
|
|
NM_001103.4(ACTN2):c.937A>T (p.Met313Leu)
|
|
|
|
NM_001103.4(ACTN2):c.93C>A (p.Leu31=)
|
|
|
|
NM_001103.4(ACTN2):c.93C>T (p.Leu31=)
|
rs397516586
|
|
|
NM_001103.4(ACTN2):c.966C>T (p.Asp322=)
|
rs1658998739
|
|
|
NM_001103.4(ACTN2):c.984G>C (p.Arg328=)
|
|
|
|
NM_001105206.3(LAMA4):c.1056C>T (p.Asp352=)
|
|
|
|
NM_001105206.3(LAMA4):c.1077+11A>G
|
rs782302045
|
|
|
NM_001105206.3(LAMA4):c.1077+15A>G
|
|
|
|
NM_001105206.3(LAMA4):c.1078-10T>C
|
rs1782138634
|
|
|
NM_001105206.3(LAMA4):c.1110T>C (p.Val370=)
|
rs1583807727
|
|
|
NM_001105206.3(LAMA4):c.1140C>T (p.His380=)
|
rs782378476
|
|
|
NM_001105206.3(LAMA4):c.1164C>A (p.Ala388=)
|
|
|
|
NM_001105206.3(LAMA4):c.1189+17C>T
|
|
|
|
NM_001105206.3(LAMA4):c.1190-14G>T
|
|
|
|
NM_001105206.3(LAMA4):c.1190-16del
|
|
|
|
NM_001105206.3(LAMA4):c.1197C>T (p.Asn399=)
|
|
|
|
NM_001105206.3(LAMA4):c.1200C>T (p.Asn400=)
|
rs375622742
|
|
|
NM_001105206.3(LAMA4):c.1227T>C (p.His409=)
|
|
|
|
NM_001105206.3(LAMA4):c.123G>C (p.Ala41=)
|
|
|
|
NM_001105206.3(LAMA4):c.1263G>T (p.Val421=)
|
|
|
|
NM_001105206.3(LAMA4):c.1275G>A (p.Lys425=)
|
rs782618132
|
|
|
NM_001105206.3(LAMA4):c.1302A>G (p.Gln434=)
|
|
|
|
NM_001105206.3(LAMA4):c.1358-6T>C
|
|
|
|
NM_001105206.3(LAMA4):c.1358-7T>C
|
|
|
|
NM_001105206.3(LAMA4):c.1360C>T (p.Leu454=)
|
|
|
|
NM_001105206.3(LAMA4):c.1362G>A (p.Leu454=)
|
|
|
|
NM_001105206.3(LAMA4):c.1365C>T (p.Ser455=)
|
|
|
|
NM_001105206.3(LAMA4):c.1368G>A (p.Gln456=)
|
|
|
|
NM_001105206.3(LAMA4):c.1419C>A (p.Val473=)
|
rs782796474
|
|
|
NM_001105206.3(LAMA4):c.1419C>G (p.Val473=)
|
|
|
|
NM_001105206.3(LAMA4):c.1419C>T (p.Val473=)
|
rs782796474
|
|
|
NM_001105206.3(LAMA4):c.141G>T (p.Pro47=)
|
rs141926228
|
|
|
NM_001105206.3(LAMA4):c.1506C>T (p.Ala502=)
|
|
|
|
NM_001105206.3(LAMA4):c.1545C>T (p.Asp515=)
|
|
|
|
NM_001105206.3(LAMA4):c.1551+11C>A
|
|
|
|
NM_001105206.3(LAMA4):c.1551+7C>A
|
rs373362483
|
|
|
NM_001105206.3(LAMA4):c.1578A>G (p.Gln526=)
|
|
|
|
NM_001105206.3(LAMA4):c.1621C>T (p.Leu541=)
|
rs2114830313
|
|
|
NM_001105206.3(LAMA4):c.1668+13G>A
|
|
|
|
NM_001105206.3(LAMA4):c.1668+8C>T
|
|
|
|
NM_001105206.3(LAMA4):c.1677A>C (p.Ser559=)
|
rs1583752541
|
|
|
NM_001105206.3(LAMA4):c.1737A>C (p.Leu579=)
|
|
|
|
NM_001105206.3(LAMA4):c.1746C>T (p.Leu582=)
|
|
|
|
NM_001105206.3(LAMA4):c.1761C>T (p.Val587=)
|
rs1554337616
|
|
|
NM_001105206.3(LAMA4):c.1776C>T (p.Asp592=)
|
|
|
|
NM_001105206.3(LAMA4):c.1777C>T (p.His593Tyr)
|
|
|
|
NM_001105206.3(LAMA4):c.1817+7T>C
|
rs2114797067
|
|
|
NM_001105206.3(LAMA4):c.1817+8C>T
|
|
|
|
NM_001105206.3(LAMA4):c.1818-19A>G
|
|
|
|
NM_001105206.3(LAMA4):c.1908A>G (p.Glu636=)
|
|
|
|
NM_001105206.3(LAMA4):c.196-11G>C
|
|
|
|
NM_001105206.3(LAMA4):c.196-15G>T
|
|
|
|
NM_001105206.3(LAMA4):c.196-20G>T
|
|
|
|
NM_001105206.3(LAMA4):c.196-5T>C
|
rs2115060403
|
|
|
NM_001105206.3(LAMA4):c.196-7G>A
|
|
|
|
NM_001105206.3(LAMA4):c.1960-8C>T
|
|
|
|
NM_001105206.3(LAMA4):c.2016C>T (p.Leu672=)
|
|
|
|
NM_001105206.3(LAMA4):c.2056+12C>A
|
rs397516722
|
|
|
NM_001105206.3(LAMA4):c.2056+18C>T
|
|
|
|
NM_001105206.3(LAMA4):c.2160A>G (p.Gln720=)
|
rs782392545
|
|
|
NM_001105206.3(LAMA4):c.2173+12A>T
|
rs2114753336
|
|
|
NM_001105206.3(LAMA4):c.2173+18T>C
|
|
|
|
NM_001105206.3(LAMA4):c.2173+8T>A
|
|
|
|
NM_001105206.3(LAMA4):c.2206C>T (p.Leu736=)
|
|
|
|
NM_001105206.3(LAMA4):c.228G>C (p.Ser76=)
|
|
|
|
NM_001105206.3(LAMA4):c.2385C>T (p.Leu795=)
|
rs1469242521
|
|
|
NM_001105206.3(LAMA4):c.2397T>G (p.Leu799=)
|
rs1554334164
|
|
|
NM_001105206.3(LAMA4):c.2421T>A (p.Pro807=)
|
|
|
|
NM_001105206.3(LAMA4):c.2475C>G (p.Thr825=)
|
rs189313630
|
|
|
NM_001105206.3(LAMA4):c.2493+7G>A
|
rs2114721174
|
|
|
NM_001105206.3(LAMA4):c.2494-16C>T
|
|
|
|
NM_001105206.3(LAMA4):c.2502C>T (p.Val834=)
|
|
|
|
NM_001105206.3(LAMA4):c.2550C>T (p.Thr850=)
|
rs2114708271
|
|
|
NM_001105206.3(LAMA4):c.2553T>C (p.Ser851=)
|
rs782584722
|
|
|
NM_001105206.3(LAMA4):c.2571C>T (p.Ala857=)
|
|
|
|
NM_001105206.3(LAMA4):c.2583G>T (p.Leu861=)
|
|
|
|
NM_001105206.3(LAMA4):c.2611C>A (p.Arg871=)
|
|
|
|
NM_001105206.3(LAMA4):c.2658A>G (p.Gly886=)
|
|
|
|
NM_001105206.3(LAMA4):c.2668-4T>G
|
rs1554333244
|
|
|
NM_001105206.3(LAMA4):c.2694A>C (p.Ala898=)
|
|
|
|
NM_001105206.3(LAMA4):c.2772C>T (p.Val924=)
|
|
|
|
NM_001105206.3(LAMA4):c.2790C>T (p.Tyr930=)
|
|
|
|
NM_001105206.3(LAMA4):c.27G>A (p.Ser9=)
|
|
|
|
NM_001105206.3(LAMA4):c.2813+13C>A
|
rs782514628
|
|
|
NM_001105206.3(LAMA4):c.2813+15T>G
|
|
|
|
NM_001105206.3(LAMA4):c.2813+16G>T
|
|
|
|
NM_001105206.3(LAMA4):c.2814-5A>C
|
|
|
|
NM_001105206.3(LAMA4):c.2859T>C (p.Ser953=)
|
|
|
|
NM_001105206.3(LAMA4):c.2874A>G (p.Glu958=)
|
rs1779650229
|
|
|
NM_001105206.3(LAMA4):c.2961G>C (p.Val987=)
|
|
|
|
NM_001105206.3(LAMA4):c.297+11G>A
|
|
|
|
NM_001105206.3(LAMA4):c.297+11G>C
|
rs782575264
|
|
|
NM_001105206.3(LAMA4):c.297+9G>A
|
|
|
|
NM_001105206.3(LAMA4):c.2977-4A>G
|
rs2114695135
|
|
|
NM_001105206.3(LAMA4):c.298-19_298-17del
|
|
|
|
NM_001105206.3(LAMA4):c.298-5C>G
|
rs1784105261
|
|
|
NM_001105206.3(LAMA4):c.300C>T (p.His100=)
|
|
|
|
NM_001105206.3(LAMA4):c.3033G>A (p.Leu1011=)
|
|
|
|
NM_001105206.3(LAMA4):c.3036T>C (p.Asn1012=)
|
rs797037404
|
|
|
NM_001105206.3(LAMA4):c.3060C>T (p.Asn1020=)
|
rs782479632
|
|
|
NM_001105206.3(LAMA4):c.3096A>C (p.Ser1032=)
|
rs782118214
|
|
|
NM_001105206.3(LAMA4):c.3110+12T>A
|
|
|
|
NM_001105206.3(LAMA4):c.3117G>A (p.Lys1039=)
|
|
|
|
NM_001105206.3(LAMA4):c.3150C>T (p.Tyr1050=)
|
rs371039089
|
|
|
NM_001105206.3(LAMA4):c.3174C>T (p.Ala1058=)
|
|
|
|
NM_001105206.3(LAMA4):c.3180G>T (p.Val1060=)
|
|
|
|
NM_001105206.3(LAMA4):c.3213G>A (p.Gln1071=)
|
rs782005024
|
|
|
NM_001105206.3(LAMA4):c.3240A>C (p.Arg1080=)
|
rs1036033892
|
|
|
NM_001105206.3(LAMA4):c.3252C>T (p.Asp1084=)
|
|
|
|
NM_001105206.3(LAMA4):c.3255C>T (p.Asn1085=)
|
|
|
|
NM_001105206.3(LAMA4):c.3282+7A>C
|
rs782506211
|
|
|
NM_001105206.3(LAMA4):c.3282+7A>G
|
|
|
|
NM_001105206.3(LAMA4):c.3282+8A>G
|
rs1779525885
|
|
|
NM_001105206.3(LAMA4):c.333A>G (p.Glu111=)
|
rs1554354577
|
|
|
NM_001105206.3(LAMA4):c.3342A>G (p.Gly1114=)
|
|
|
|
NM_001105206.3(LAMA4):c.3360G>A (p.Val1120=)
|
rs782508127
|
|
|
NM_001105206.3(LAMA4):c.3360G>C (p.Val1120=)
|
rs782508127
|
|
|
NM_001105206.3(LAMA4):c.3414+12T>A
|
|
|
|
NM_001105206.3(LAMA4):c.3414+18T>G
|
rs1779324484
|
|
|
NM_001105206.3(LAMA4):c.3415-14A>T
|
|
|
|
NM_001105206.3(LAMA4):c.3415-4C>T
|
rs1779225864
|
|
|
NM_001105206.3(LAMA4):c.3522C>T (p.Tyr1174=)
|
|
|
|
NM_001105206.3(LAMA4):c.3557+17A>G
|
|
|
|
NM_001105206.3(LAMA4):c.3557+7C>T
|
|
|
|
NM_001105206.3(LAMA4):c.3697-19C>T
|
|
|
|
NM_001105206.3(LAMA4):c.3711A>G (p.Ala1237=)
|
|
|
|
NM_001105206.3(LAMA4):c.3717C>T (p.Phe1239=)
|
|
|
|
NM_001105206.3(LAMA4):c.373G>T (p.Ala125Ser)
|
rs529185662
|
|
|
NM_001105206.3(LAMA4):c.3750A>G (p.Lys1250=)
|
rs149289455
|
|
|
NM_001105206.3(LAMA4):c.3768C>G (p.Gly1256=)
|
|
|
|
NM_001105206.3(LAMA4):c.381A>G (p.Gln127=)
|
rs782751372
|
|
|
NM_001105206.3(LAMA4):c.3835-16T>C
|
|
|
|
NM_001105206.3(LAMA4):c.3864T>C (p.Asn1288=)
|
|
|
|
NM_001105206.3(LAMA4):c.3870T>C (p.Thr1290=)
|
|
|
|
NM_001105206.3(LAMA4):c.3882T>C (p.Asp1294=)
|
|
|
|
NM_001105206.3(LAMA4):c.3903G>A (p.Gln1301=)
|
|
|
|
NM_001105206.3(LAMA4):c.3906A>G (p.Ser1302=)
|
|
|
|
NM_001105206.3(LAMA4):c.3927T>C (p.Asp1309=)
|
|
|
|
NM_001105206.3(LAMA4):c.3948T>A (p.Ile1316=)
|
rs782307741
|
|
|
NM_001105206.3(LAMA4):c.3968+14C>T
|
|
|
|
NM_001105206.3(LAMA4):c.3968+8T>C
|
|
|
|
NM_001105206.3(LAMA4):c.3969-16C>A
|
rs1056662211
|
|
|
NM_001105206.3(LAMA4):c.3969-18A>G
|
|
|
|
NM_001105206.3(LAMA4):c.399C>T (p.Pro133=)
|
rs2115024137
|
|
|
NM_001105206.3(LAMA4):c.39G>T (p.Leu13=)
|
|
|
|
NM_001105206.3(LAMA4):c.4008G>A (p.Lys1336=)
|
|
|
|
NM_001105206.3(LAMA4):c.405C>T (p.Pro135=)
|
|
|
|
NM_001105206.3(LAMA4):c.4077A>G (p.Pro1359=)
|
rs1060504123
|
|
|
NM_001105206.3(LAMA4):c.4110C>T (p.Cys1370=)
|
|
|
|
NM_001105206.3(LAMA4):c.4133+13T>C
|
|
|
|
NM_001105206.3(LAMA4):c.4134-13G>A
|
|
|
|
NM_001105206.3(LAMA4):c.4134-13G>C
|
|
|
|
NM_001105206.3(LAMA4):c.4134-18C>T
|
rs2114635543
|
|
|
NM_001105206.3(LAMA4):c.4134-9C>A
|
|
|
|
NM_001105206.3(LAMA4):c.4176T>C (p.Thr1392=)
|
rs782257541
|
|
|
NM_001105206.3(LAMA4):c.422+17G>A
|
|
|
|
NM_001105206.3(LAMA4):c.422+20G>C
|
|
|
|
NM_001105206.3(LAMA4):c.422+7C>T
|
rs2115023950
|
|
|
NM_001105206.3(LAMA4):c.4287+11A>G
|
|
|
|
NM_001105206.3(LAMA4):c.4287+16G>T
|
|
|
|
NM_001105206.3(LAMA4):c.4288-9C>T
|
|
|
|
NM_001105206.3(LAMA4):c.4320T>C (p.Asp1440=)
|
rs1366384304
|
|
|
NM_001105206.3(LAMA4):c.4345C>A (p.Arg1449=)
|
rs372872387
|
|
|
NM_001105206.3(LAMA4):c.4386C>T (p.Ser1462=)
|
rs397516729
|
|
|
NM_001105206.3(LAMA4):c.4401G>A (p.Glu1467=)
|
rs2114600570
|
|
|
NM_001105206.3(LAMA4):c.4404C>T (p.His1468=)
|
|
|
|
NM_001105206.3(LAMA4):c.4416T>C (p.Tyr1472=)
|
rs979432979
|
|
|
NM_001105206.3(LAMA4):c.441T>C (p.Tyr147=)
|
|
|
|
NM_001105206.3(LAMA4):c.4425A>G (p.Thr1475=)
|
rs2114600372
|
|
|
NM_001105206.3(LAMA4):c.4475+10C>A
|
|
|
|
NM_001105206.3(LAMA4):c.4476-20C>G
|
|
|
|
NM_001105206.3(LAMA4):c.4476-20C>T
|
|
|
|
NM_001105206.3(LAMA4):c.459T>C (p.Val153=)
|
|
|
|
NM_001105206.3(LAMA4):c.4666-14T>C
|
rs1583638254
|
|
|
NM_001105206.3(LAMA4):c.4710T>C (p.Asp1570=)
|
rs2114583537
|
|
|
NM_001105206.3(LAMA4):c.4746T>G (p.Thr1582=)
|
rs941191492
|
|
|
NM_001105206.3(LAMA4):c.474C>T (p.Asn158=)
|
rs782189528
|
|
|
NM_001105206.3(LAMA4):c.4821+7C>T
|
|
|
|
NM_001105206.3(LAMA4):c.4869C>T (p.Leu1623=)
|
rs1554324509
|
|
|
NM_001105206.3(LAMA4):c.4872T>C (p.Asn1624=)
|
rs781829296
|
|
|
NM_001105206.3(LAMA4):c.4878C>A (p.Ala1626=)
|
rs1554324481
|
|
|
NM_001105206.3(LAMA4):c.4887C>T (p.Thr1629=)
|
|
|
|
NM_001105206.3(LAMA4):c.489A>G (p.Gly163=)
|
|
|
|
NM_001105206.3(LAMA4):c.4911G>A (p.Val1637=)
|
|
|
|
NM_001105206.3(LAMA4):c.4914C>T (p.Thr1638=)
|
rs1554324464
|
|
|
NM_001105206.3(LAMA4):c.4953T>C (p.Phe1651=)
|
rs1554324452
|
|
|
NM_001105206.3(LAMA4):c.495C>T (p.Asn165=)
|
rs1583875697
|
|
|
NM_001105206.3(LAMA4):c.4964G>A (p.Gly1655Glu)
|
|
|
|
NM_001105206.3(LAMA4):c.4981+19A>G
|
|
|
|
NM_001105206.3(LAMA4):c.4982-8C>T
|
rs2114564746
|
|
|
NM_001105206.3(LAMA4):c.4982-9T>C
|
rs1554323672
|
|
|
NM_001105206.3(LAMA4):c.5002T>C (p.Leu1668=)
|
rs369799390
|
|
|
NM_001105206.3(LAMA4):c.503+12A>C
|
|
|
|
NM_001105206.3(LAMA4):c.503+20T>C
|
|
|
|
NM_001105206.3(LAMA4):c.503+7C>T
|
|
|
|
NM_001105206.3(LAMA4):c.504-8del
|
rs2114966437
|
|
|
NM_001105206.3(LAMA4):c.5061C>T (p.His1687=)
|
|
|
|
NM_001105206.3(LAMA4):c.5112+15A>G
|
rs2114563718
|
|
|
NM_001105206.3(LAMA4):c.5115C>T (p.Val1705=)
|
|
|
|
NM_001105206.3(LAMA4):c.5133T>C (p.Asn1711=)
|
rs1554322929
|
|
|
NM_001105206.3(LAMA4):c.5139C>T (p.Ile1713=)
|
|
|
|
NM_001105206.3(LAMA4):c.5184T>C (p.Asp1728=)
|
rs782595382
|
|
|
NM_001105206.3(LAMA4):c.5206+16G>T
|
|
|
|
NM_001105206.3(LAMA4):c.5207-13C>A
|
rs2114553936
|
|
|
NM_001105206.3(LAMA4):c.5207-16_5207-15del
|
rs782006922
|
|
|
NM_001105206.3(LAMA4):c.5207-8C>A
|
|
|
|
NM_001105206.3(LAMA4):c.5211T>C (p.Ile1737=)
|
rs1583625702
|
|
|
NM_001105206.3(LAMA4):c.5233T>C (p.Leu1745=)
|
|
|
|
NM_001105206.3(LAMA4):c.5259T>C (p.His1753=)
|
|
|
|
NM_001105206.3(LAMA4):c.5327-16T>C
|
|
|
|
NM_001105206.3(LAMA4):c.5327-9T>A
|
|
|
|
NM_001105206.3(LAMA4):c.5382C>A (p.Arg1794=)
|
rs1554320951
|
|
|
NM_001105206.3(LAMA4):c.5400A>G (p.Gly1800=)
|
rs782106622
|
|
|
NM_001105206.3(LAMA4):c.5469C>T (p.Ala1823=)
|
rs1554320872
|
|
|
NM_001105206.3(LAMA4):c.57T>C (p.Ala19=)
|
|
|
|
NM_001105206.3(LAMA4):c.6T>A (p.Ala2=)
|
|
|
|
NM_001105206.3(LAMA4):c.719-6C>T
|
|
|
|
NM_001105206.3(LAMA4):c.730G>C (p.Gly244Arg)
|
rs147078770
|
|
|
NM_001105206.3(LAMA4):c.753A>G (p.Val251=)
|
rs782296410
|
|
|
NM_001105206.3(LAMA4):c.756C>T (p.Thr252=)
|
|
|
|
NM_001105206.3(LAMA4):c.78C>T (p.Ser26=)
|
|
|
|
NM_001105206.3(LAMA4):c.805C>T (p.Pro269Ser)
|
|
|
|
NM_001105206.3(LAMA4):c.815-7C>T
|
|
|
|
NM_001105206.3(LAMA4):c.85G>A (p.Asp29Asn)
|
rs150662822
|
|
|
NM_001105206.3(LAMA4):c.915C>T (p.Ala305=)
|
rs2114940597
|
|
|
NM_001105206.3(LAMA4):c.918C>A (p.Ala306=)
|
rs962353764
|
|
|
NM_001105206.3(LAMA4):c.930C>T (p.His310=)
|
|
|
|
NM_001105206.3(LAMA4):c.966+16C>T
|
|
|
|
NM_001105206.3(LAMA4):c.999C>T (p.Ala333=)
|
|
|
|
NM_001122630.2(CDKN1C):c.-10-12G>A
|
rs1220484886
|
|
|
NM_001122630.2(CDKN1C):c.-10-15C>T
|
rs1352961367
|
|
|
NM_001122630.2(CDKN1C):c.-10-18C>T
|
rs1050335121
|
|
|
NM_001122630.2(CDKN1C):c.-10-9C>T
|
rs878853624
|
|
|
NM_001122630.2(CDKN1C):c.-10C>T
|
rs2133786702
|
|
|
NM_001122630.2(CDKN1C):c.-4C>G
|
|
|
|
NM_001122630.2(CDKN1C):c.-4C>T
|
|
|
|
NM_001122630.2(CDKN1C):c.-7A>C
|
|
|
|
NM_001122630.2(CDKN1C):c.105G>T (p.Leu35=)
|
rs762337324
|
|
|
NM_001122630.2(CDKN1C):c.108G>A (p.Gln36=)
|
rs1060503856
|
|
|
NM_001122630.2(CDKN1C):c.115C>T (p.Leu39=)
|
rs2133786132
|
|
|
NM_001122630.2(CDKN1C):c.120C>T (p.Ala40=)
|
rs776240688
|
|
|
NM_001122630.2(CDKN1C):c.126G>T (p.Leu42=)
|
|
|
|
NM_001122630.2(CDKN1C):c.132C>G (p.Ala44=)
|
rs546920371
|
|
|
NM_001122630.2(CDKN1C):c.132C>T (p.Ala44=)
|
rs546920371
|
|
|
NM_001122630.2(CDKN1C):c.135G>A (p.Glu45=)
|
|
|
|
NM_001122630.2(CDKN1C):c.159C>T (p.Asp53=)
|
rs1848973484
|
|
|
NM_001122630.2(CDKN1C):c.15C>T (p.Val5=)
|
rs1172216105
|
|
|
NM_001122630.2(CDKN1C):c.162C>T (p.Phe54=)
|
|
|
|
NM_001122630.2(CDKN1C):c.171C>T (p.Asp57=)
|
rs1554938190
|
|
|
NM_001122630.2(CDKN1C):c.177G>A (p.Pro59=)
|
rs1441014990
|
|
|
NM_001122630.2(CDKN1C):c.177G>T (p.Pro59=)
|
rs1441014990
|
|
|
NM_001122630.2(CDKN1C):c.178C>T (p.Leu60=)
|
rs2133785831
|
|
|
NM_001122630.2(CDKN1C):c.195C>G (p.Arg65=)
|
|
|
|
NM_001122630.2(CDKN1C):c.195C>T (p.Arg65=)
|
rs2133785747
|
|
|
NM_001122630.2(CDKN1C):c.207C>A (p.Thr69=)
|
|
|
|
NM_001122630.2(CDKN1C):c.207C>G (p.Thr69=)
|
rs1310156157
|
|
|
NM_001122630.2(CDKN1C):c.207C>T (p.Thr69=)
|
rs1310156157
|
|
|
NM_001122630.2(CDKN1C):c.216C>T (p.Asp72=)
|
rs1848971070
|
|
|
NM_001122630.2(CDKN1C):c.219C>T (p.Ser73=)
|
rs1295465465
|
|
|
NM_001122630.2(CDKN1C):c.231C>T (p.Pro77=)
|
rs1008606799
|
|
|
NM_001122630.2(CDKN1C):c.237C>T (p.Phe79=)
|
rs2133785564
|
|
|
NM_001122630.2(CDKN1C):c.240C>T (p.Tyr80=)
|
rs2133785556
|
|
|
NM_001122630.2(CDKN1C):c.243C>G (p.Arg81=)
|
|
|
|
NM_001122630.2(CDKN1C):c.246G>A (p.Glu82=)
|
rs1191356849
|
|
|
NM_001122630.2(CDKN1C):c.249G>A (p.Thr83=)
|
rs1848969301
|
|
|
NM_001122630.2(CDKN1C):c.249G>T (p.Thr83=)
|
rs1848969301
|
|
|
NM_001122630.2(CDKN1C):c.24G>A (p.Gly8=)
|
rs1590151650
|
|
|
NM_001122630.2(CDKN1C):c.252G>A (p.Val84=)
|
rs1291600206
|
|
|
NM_001122630.2(CDKN1C):c.255G>A (p.Gln85=)
|
rs1848968928
|
|
|
NM_001122630.2(CDKN1C):c.261G>C (p.Gly87=)
|
rs1590150966
|
|
|
NM_001122630.2(CDKN1C):c.270C>T (p.Arg90=)
|
rs1327772173
|
|
|
NM_001122630.2(CDKN1C):c.271C>T (p.Leu91=)
|
rs1590150922
|
|
|
NM_001122630.2(CDKN1C):c.274C>T (p.Leu92=)
|
|
|
|
NM_001122630.2(CDKN1C):c.277C>T (p.Leu93=)
|
|
|
|
NM_001122630.2(CDKN1C):c.282G>T (p.Ala94=)
|
|
|
|
NM_001122630.2(CDKN1C):c.291C>A (p.Pro97=)
|
rs534471786
|
|
|
NM_001122630.2(CDKN1C):c.291C>G (p.Pro97=)
|
rs534471786
|
|
|
NM_001122630.2(CDKN1C):c.297G>A (p.Ala99=)
|
|
|
|
NM_001122630.2(CDKN1C):c.300C>A (p.Val100=)
|
rs1451014097
|
|
|
NM_001122630.2(CDKN1C):c.300C>T (p.Val100=)
|
rs1451014097
|
|
|
NM_001122630.2(CDKN1C):c.303G>T (p.Ala101=)
|
rs931922290
|
|
|
NM_001122630.2(CDKN1C):c.306G>C (p.Val102=)
|
rs904430375
|
|
|
NM_001122630.2(CDKN1C):c.306G>T (p.Val102=)
|
|
|
|
NM_001122630.2(CDKN1C):c.312C>G (p.Val104=)
|
rs770277810
|
|
|
NM_001122630.2(CDKN1C):c.312C>T (p.Val104=)
|
rs770277810
|
|
|
NM_001122630.2(CDKN1C):c.315C>T (p.Ser105=)
|
rs1489450203
|
|
|
NM_001122630.2(CDKN1C):c.321C>T (p.Pro107=)
|
|
|
|
NM_001122630.2(CDKN1C):c.324C>A (p.Leu108=)
|
|
|
|
NM_001122630.2(CDKN1C):c.324C>T (p.Leu108=)
|
rs1060503864
|
|
|
NM_001122630.2(CDKN1C):c.330G>A (p.Pro110=)
|
|
|
|
NM_001122630.2(CDKN1C):c.333C>A (p.Ala111=)
|
rs1554938097
|
|
|
NM_001122630.2(CDKN1C):c.333C>T (p.Ala111=)
|
rs1554938097
|
|
|
NM_001122630.2(CDKN1C):c.342C>T (p.Ser114=)
|
rs1404253864
|
|
|
NM_001122630.2(CDKN1C):c.348C>T (p.Asp116=)
|
|
|
|
NM_001122630.2(CDKN1C):c.366G>A (p.Pro122=)
|
rs1157920703
|
|
|
NM_001122630.2(CDKN1C):c.373C>T (p.Leu125=)
|
rs2133784894
|
|
|
NM_001122630.2(CDKN1C):c.37C>T (p.Leu13=)
|
rs2133786544
|
|
|
NM_001122630.2(CDKN1C):c.384C>T (p.Val128=)
|
rs2133784870
|
|
|
NM_001122630.2(CDKN1C):c.387G>A (p.Pro129=)
|
|
|
|
NM_001122630.2(CDKN1C):c.387G>C (p.Pro129=)
|
rs1590150548
|
|
|
NM_001122630.2(CDKN1C):c.393G>A (p.Pro131=)
|
|
|
|
NM_001122630.2(CDKN1C):c.393G>T (p.Pro131=)
|
rs1258844642
|
|
|
NM_001122630.2(CDKN1C):c.399G>A (p.Pro133=)
|
rs1848956208
|
|
|
NM_001122630.2(CDKN1C):c.402G>A (p.Ala134=)
|
rs1848955478
|
|
|
NM_001122630.2(CDKN1C):c.405C>G (p.Ser135=)
|
rs1554938064
|
|
|
NM_001122630.2(CDKN1C):c.405C>T (p.Ser135=)
|
|
|
|
NM_001122630.2(CDKN1C):c.408C>T (p.Thr136=)
|
rs1590150476
|
|
|
NM_001122630.2(CDKN1C):c.411G>T (p.Pro137=)
|
rs878853625
|
|
|
NM_001122630.2(CDKN1C):c.414C>A (p.Pro138=)
|
|
|
|
NM_001122630.2(CDKN1C):c.414_431del (p.Val140_Pro145del)
|
rs1159599818
|
|
|
NM_001122630.2(CDKN1C):c.417A>C (p.Pro139=)
|
rs1486402339
|
|
|
NM_001122630.2(CDKN1C):c.417A>G (p.Pro139=)
|
|
|
|
NM_001122630.2(CDKN1C):c.417_440del (p.Val140_Pro147del)
|
|
|
|
NM_001122630.2(CDKN1C):c.419_436dup (p.Val140_Pro145dup)
|
rs2133784606
|
|
|
NM_001122630.2(CDKN1C):c.420C>T (p.Val140=)
|
rs2133784683
|
|
|
NM_001122630.2(CDKN1C):c.421_552del (p.Pro141_Val184del)
|
rs2133783577
|
|
|
NM_001122630.2(CDKN1C):c.423G>T (p.Pro141=)
|
rs878853626
|
|
|
NM_001122630.2(CDKN1C):c.429G>A (p.Leu143=)
|
|
|
|
NM_001122630.2(CDKN1C):c.432_437del (p.144AP[4])
|
rs2133784597
|
|
|
NM_001122630.2(CDKN1C):c.432_503del (p.Val154_Pro177del)
|
rs2133784058
|
|
|
NM_001122630.2(CDKN1C):c.435A>T (p.Pro145=)
|
rs1381073956
|
|
|
NM_001122630.2(CDKN1C):c.435_440del (p.144AP[4])
|
rs2133784574
|
|
|
NM_001122630.2(CDKN1C):c.435_452del (p.144AP[2])
|
rs2133784486
|
|
|
NM_001122630.2(CDKN1C):c.435_452dup (p.144AP[8])
|
rs2133784486
|
|
|
NM_001122630.2(CDKN1C):c.435_464del (p.Ala148_Pro157del)
|
|
|
|
NM_001122630.2(CDKN1C):c.438C>T (p.Ala146=)
|
rs1848951746
|
|
|
NM_001122630.2(CDKN1C):c.438CCCGGC[1] (p.144AP[4])
|
rs1301544231
|
|
|
NM_001122630.2(CDKN1C):c.438CCCGGC[3] (p.144AP[6])
|
rs1301544231
|
|
|
NM_001122630.2(CDKN1C):c.438_449del (p.144_145AP[3])
|
rs1301544231
|
|
|
NM_001122630.2(CDKN1C):c.441G>A (p.Pro147=)
|
rs2133784568
|
|
|
NM_001122630.2(CDKN1C):c.443_460del (p.144AP[2])
|
rs1469652745
|
|
|
NM_001122630.2(CDKN1C):c.444C>A (p.Ala148=)
|
rs1590150329
|
|
|
NM_001122630.2(CDKN1C):c.444_455del (p.144AP[3])
|
rs1848949623
|
|
|
NM_001122630.2(CDKN1C):c.444_467del (p.Ala150_Pro157del)
|
rs2133784373
|
|
|
NM_001122630.2(CDKN1C):c.444_521del (p.Val154_Pro179del)
|
|
|
|
NM_001122630.2(CDKN1C):c.447G>T (p.Pro149=)
|
|
|
|
NM_001122630.2(CDKN1C):c.449CTCCGG[1] (p.144AP[4])
|
rs1245402442
|
|
|
NM_001122630.2(CDKN1C):c.449_484del (p.Ala150_Pro161del)
|
rs1848947221
|
|
|
NM_001122630.2(CDKN1C):c.450T>C (p.Ala150=)
|
rs898729531
|
|
|
NM_001122630.2(CDKN1C):c.450_509del (p.Val154_Pro173del)
|
rs2133784002
|
|
|
NM_001122630.2(CDKN1C):c.450_515del (p.Val154_Pro175del)
|
|
|
|
NM_001122630.2(CDKN1C):c.455CTCCGGTCGCGG[1] (p.152APVA[1])
|
rs565544512
|
|
|
NM_001122630.2(CDKN1C):c.455CTCCGGTCGCGG[4] (p.152APVA[4])
|
rs565544512
|
|
|
NM_001122630.2(CDKN1C):c.455CTCCGGTCGCGG[5] (p.152APVA[5])
|
rs565544512
|
|
|
NM_001122630.2(CDKN1C):c.455_472del (p.Ala152_Pro157del)
|
rs1554937999
|
|
|
NM_001122630.2(CDKN1C):c.456T>C (p.Ala152=)
|
rs1348424255
|
|
|
NM_001122630.2(CDKN1C):c.456T>G (p.Ala152=)
|
rs1348424255
|
|
|
NM_001122630.2(CDKN1C):c.456_463delinsCCCGGCTC (p.Val154_Ala155delinsAlaPro)
|
rs2133784405
|
|
|
NM_001122630.2(CDKN1C):c.459G>C (p.Pro153=)
|
|
|
|
NM_001122630.2(CDKN1C):c.461_466del (p.Val154_Ala155del)
|
rs878853627
|
|
|
NM_001122630.2(CDKN1C):c.461_538del (p.Val154_Pro179del)
|
rs2133783770
|
|
|
NM_001122630.2(CDKN1C):c.462C>G (p.Val154=)
|
rs1252011332
|
|
|
NM_001122630.2(CDKN1C):c.464_465insAGCTCCGGTCGC (p.152APVA[4])
|
rs2133784396
|
|
|
NM_001122630.2(CDKN1C):c.467_496del (p.Ala156_Ala165del)
|
rs2133784129
|
|
|
NM_001122630.2(CDKN1C):c.471G>A (p.Pro157=)
|
|
|
|
NM_001122630.2(CDKN1C):c.471G>T (p.Pro157=)
|
|
|
|
NM_001122630.2(CDKN1C):c.473_478del (p.Val158_Ala159del)
|
rs2133784288
|
|
|
NM_001122630.2(CDKN1C):c.473_526del (p.Val158_Pro175del)
|
rs2133783883
|
|
|
NM_001122630.2(CDKN1C):c.473_538del (p.Val158_Pro179del)
|
rs2133783763
|
|
|
NM_001122630.2(CDKN1C):c.474C>A (p.Val158=)
|
|
|
|
NM_001122630.2(CDKN1C):c.474C>G (p.Val158=)
|
rs2133784308
|
|
|
NM_001122630.2(CDKN1C):c.477G>A (p.Ala159=)
|
|
|
|
NM_001122630.2(CDKN1C):c.479_484del (p.Ala160_Pro161del)
|
rs1324090653
|
|
|
NM_001122630.2(CDKN1C):c.479_496del (p.Ala160_Ala165del)
|
rs1064792992
|
|
|
NM_001122630.2(CDKN1C):c.480T>C (p.Ala160=)
|
rs1463366525
|
|
|
NM_001122630.2(CDKN1C):c.480T>G (p.Ala160=)
|
rs1463366525
|
|
|
NM_001122630.2(CDKN1C):c.485_508dup (p.Val162_Pro169dup)
|
rs2133784011
|
|
|
NM_001122630.2(CDKN1C):c.487GCGGTC[1] (p.163AV[1])
|
rs889984547
|
|
|
NM_001122630.2(CDKN1C):c.487GCGGTC[3] (p.163AV[3])
|
rs889984547
|
|
|
NM_001122630.2(CDKN1C):c.489G>C (p.Ala163=)
|
|
|
|
NM_001122630.2(CDKN1C):c.490_491insC (p.Val164fs)
|
rs2133784176
|
|
|
NM_001122630.2(CDKN1C):c.490_491insCTCCGG (p.Ala163_Val164insAlaPro)
|
rs2133784179
|
|
|
NM_001122630.2(CDKN1C):c.491_512delinsCTCCGGTCGCGGTCGCGGTCCT (p.Val164_Pro171delinsAlaProValAlaValAlaValLeu)
|
rs2133783981
|
|
|
NM_001122630.2(CDKN1C):c.492C>T (p.Val164=)
|
|
|
|
NM_001122630.2(CDKN1C):c.493G>C (p.Ala165Pro)
|
|
|
|
NM_001122630.2(CDKN1C):c.493_494delinsCT (p.Ala165Leu)
|
rs1554937984
|
|
|
NM_001122630.2(CDKN1C):c.493_500delinsCTGGCCCC (p.Ala165_Leu167delinsLeuAlaPro)
|
|
|
|
NM_001122630.2(CDKN1C):c.495G>A (p.Ala165=)
|
rs533485167
|
|
|
NM_001122630.2(CDKN1C):c.495G>T (p.Ala165=)
|
rs533485167
|
|
|
NM_001122630.2(CDKN1C):c.500_511del (p.Leu167_Ala170del)
|
rs2133783984
|
|
|
NM_001122630.2(CDKN1C):c.500_567delinsCGGCCCCG (p.Leu167_Ala186del)
|
|
|
|
NM_001122630.2(CDKN1C):c.501G>C (p.Leu167=)
|
rs2133784073
|
|
|
NM_001122630.2(CDKN1C):c.504C>T (p.Ala168=)
|
rs1590150029
|
|
|
NM_001122630.2(CDKN1C):c.504CCCGGC[1] (p.168AP[6])
|
rs878853629
|
|
|
NM_001122630.2(CDKN1C):c.504CCCGGC[4] (p.168AP[9])
|
rs878853629
|
|
|
NM_001122630.2(CDKN1C):c.504CCCGGC[5] (p.168AP[10])
|
rs878853629
|
|
|
NM_001122630.2(CDKN1C):c.504_521del (p.168_169AP[5])
|
rs878853629
|
|
|
NM_001122630.2(CDKN1C):c.504_527del (p.168AP[4])
|
rs2068024620
|
|
|
NM_001122630.2(CDKN1C):c.505_506insGGGCCC (p.Ala168_Pro169insArgAla)
|
rs2133784029
|
|
|
NM_001122630.2(CDKN1C):c.510C>A (p.Ala170=)
|
rs1476496963
|
|
|
NM_001122630.2(CDKN1C):c.510C>T (p.Ala170=)
|
rs1476496963
|
|
|
NM_001122630.2(CDKN1C):c.510_527del (p.168_169AP[5])
|
rs1064792991
|
|
|
NM_001122630.2(CDKN1C):c.510_533del (p.168_169AP[4])
|
rs1486933065
|
|
|
NM_001122630.2(CDKN1C):c.510_533dup (p.168_169AP[12])
|
rs1486933065
|
|
|
NM_001122630.2(CDKN1C):c.516C>T (p.Ala172=)
|
rs1462682672
|
|
|
NM_001122630.2(CDKN1C):c.516TCCGGC[3] (p.168AP[11])
|
rs2133783969
|
|
|
NM_001122630.2(CDKN1C):c.516_527del (p.168_169AP[6])
|
rs1249284743
|
|
|
NM_001122630.2(CDKN1C):c.516_533del (p.168AP[5])
|
rs1848942217
|
|
|
NM_001122630.2(CDKN1C):c.516_545del (p.168AP[3])
|
rs1848940267
|
|
|
NM_001122630.2(CDKN1C):c.519G>A (p.Pro173=)
|
|
|
|
NM_001122630.2(CDKN1C):c.519_566del (p.Val184_Pro199del)
|
rs1590149676
|
|
|
NM_001122630.2(CDKN1C):c.519_596del (p.Ala180_Pro205del)
|
rs2133783065
|
|
|
NM_001122630.2(CDKN1C):c.521_522insCCCGGCTCCGGC (p.168_169AP[10])
|
rs1590149942
|
|
|
NM_001122630.2(CDKN1C):c.522TCCGGC[1] (p.168AP[6])
|
rs878853632
|
|
|
NM_001122630.2(CDKN1C):c.522TCCGGC[4] (p.168AP[9])
|
rs878853632
|
|
|
NM_001122630.2(CDKN1C):c.522TCCGGC[5] (p.168AP[10])
|
rs878853632
|
|
|
NM_001122630.2(CDKN1C):c.522TCCGGC[6] (p.168AP[11])
|
rs878853632
|
|
|
NM_001122630.2(CDKN1C):c.522_526del (p.Pro175fs)
|
rs1590149916
|
|
|
NM_001122630.2(CDKN1C):c.522_539del (p.168AP[5])
|
rs878853632
|
|
|
NM_001122630.2(CDKN1C):c.522_567delinsCCCGGCTCCGGCTCCGGCCCCGGCTCCAGTCGCG (p.186AP[8])
|
rs2133783382
|
|
|
NM_001122630.2(CDKN1C):c.522_587del (p.Val184_Pro205del)
|
|
|
|
NM_001122630.2(CDKN1C):c.522_587dup (p.Val184_Pro205dup)
|
rs2133783144
|
|
|
NM_001122630.2(CDKN1C):c.522_593dup (p.Pro205_Asp206insAlaProValAlaAlaProAlaProAlaProAlaProAlaProAlaProAlaProAlaProAlaProAlaPro)
|
|
|
|
NM_001122630.2(CDKN1C):c.522delinsCCCGGCC (p.Pro183_Val184insAlaPro)
|
|
|
|
NM_001122630.2(CDKN1C):c.522delinsCCCGGCTCCGGCTCCGGCC (p.Pro183_Val184insAlaProAlaProAlaPro)
|
|
|
|
NM_001122630.2(CDKN1C):c.525G>A (p.Pro175=)
|
rs1554937948
|
|
|
NM_001122630.2(CDKN1C):c.525_548del (p.168_169AP[4])
|
rs878853630
|
|
|
NM_001122630.2(CDKN1C):c.525_548dup (p.168_169AP[12])
|
rs878853630
|
|
|
NM_001122630.2(CDKN1C):c.527_528insCCCGGC (p.168_169AP[9])
|
rs878853631
|
|
|
NM_001122630.2(CDKN1C):c.527_528insCCCGGCCCCGGC (p.168_169AP[10])
|
rs878853631
|
|
|
NM_001122630.2(CDKN1C):c.528CCCGGC[3] (p.168AP[11])
|
rs878853631
|
|
|
NM_001122630.2(CDKN1C):c.528T>A (p.Ala176=)
|
rs384713
|
|
|
NM_001122630.2(CDKN1C):c.528del (p.Pro177fs)
|
rs1590149885
|
|
|
NM_001122630.2(CDKN1C):c.531_548del (p.168_169AP[5])
|
rs1590149766
|
|
|
NM_001122630.2(CDKN1C):c.531_548dup (p.168_169AP[11])
|
rs1590149766
|
|
|
NM_001122630.2(CDKN1C):c.534_557del (p.Val184_Pro191del)
|
rs2133783521
|
|
|
NM_001122630.2(CDKN1C):c.534_563del (p.Val184_Pro193del)
|
rs2133783458
|
|
|
NM_001122630.2(CDKN1C):c.534_563dup (p.Val184_Pro193dup)
|
rs2133783458
|
|
|
NM_001122630.2(CDKN1C):c.536_537insAGTCGC (p.Pro179_Ala180insValAla)
|
rs1848941810
|
|
|
NM_001122630.2(CDKN1C):c.537G>C (p.Pro179=)
|
rs550978405
|
|
|
NM_001122630.2(CDKN1C):c.537_548del (p.168AP[6])
|
rs997267634
|
|
|
NM_001122630.2(CDKN1C):c.537_548dup (p.168_169AP[10])
|
rs997267634
|
|
|
NM_001122630.2(CDKN1C):c.539_540insTCCGTC (p.Pro181_Ala182insSerPro)
|
rs1590149802
|
|
|
NM_001122630.2(CDKN1C):c.540C>T (p.Ala180=)
|
|
|
|
NM_001122630.2(CDKN1C):c.540_545dup (p.168_169AP[9])
|
rs1302209410
|
|
|
NM_001122630.2(CDKN1C):c.543G>A (p.Pro181=)
|
rs2133783693
|
|
|
NM_001122630.2(CDKN1C):c.543_566del (p.Val184_Pro191del)
|
rs1564929761
|
|
|
NM_001122630.2(CDKN1C):c.545_546insCCCGGCCCCGGCTCCGGCTCCGGCCCCGGC (p.Pro183_Val184insAlaProAlaProAlaProAlaProAlaPro)
|
|
|
|
NM_001122630.2(CDKN1C):c.546_557del (p.Val184_Pro187del)
|
rs2133783507
|
|
|
NM_001122630.2(CDKN1C):c.546_563del (p.Val184_Pro189del)
|
rs1203797892
|
|
|
NM_001122630.2(CDKN1C):c.546_563dup (p.Val184_Pro189dup)
|
rs1203797892
|
|
|
NM_001122630.2(CDKN1C):c.546_569del (p.Val184_Pro191del)
|
rs1590149645
|
|
|
NM_001122630.2(CDKN1C):c.546_579delinsCCCA (p.Val184_Pro193del)
|
rs2133783226
|
|
|
NM_001122630.2(CDKN1C):c.546_581del (p.Val184_Pro195del)
|
rs1554937877
|
|
|
NM_001122630.2(CDKN1C):c.546_587dup (p.Val184_Pro197dup)
|
rs2133783134
|
|
|
NM_001122630.2(CDKN1C):c.546_611del (p.Val184_Pro205del)
|
|
|
|
NM_001122630.2(CDKN1C):c.549A>T (p.Pro183=)
|
rs1340993922
|
|
|
NM_001122630.2(CDKN1C):c.549_554del (p.Val184_Ala185del)
|
|
|
|
NM_001122630.2(CDKN1C):c.54C>G (p.Ala18=)
|
|
|
|
NM_001122630.2(CDKN1C):c.54C>T (p.Ala18=)
|
|
|
|
NM_001122630.2(CDKN1C):c.551_568del (p.Val184_Pro189del)
|
|
|
|
NM_001122630.2(CDKN1C):c.551_580del (p.Val184_Pro193del)
|
rs2133783214
|
|
|
NM_001122630.2(CDKN1C):c.552C>G (p.Val184=)
|
|
|
|
NM_001122630.2(CDKN1C):c.552C>T (p.Val184=)
|
rs1590149737
|
|
|
NM_001122630.2(CDKN1C):c.553_570dup (p.Ala185_Ala190dup)
|
rs2133783326
|
|
|
NM_001122630.2(CDKN1C):c.555G>A (p.Ala185=)
|
rs878853633
|
|
|
NM_001122630.2(CDKN1C):c.555G>C (p.Ala185=)
|
|
|
|
NM_001122630.2(CDKN1C):c.555G>T (p.Ala185=)
|
rs878853633
|
|
|
NM_001122630.2(CDKN1C):c.555GGCCCC[1] (p.186AP[9])
|
rs1060503855
|
|
|
NM_001122630.2(CDKN1C):c.555GGCCCC[3] (p.186AP[11])
|
rs1060503855
|
|
|
NM_001122630.2(CDKN1C):c.555_566del (p.186AP[8])
|
rs1060503855
|
|
|
NM_001122630.2(CDKN1C):c.556_557insTCGCGGTCCTGGCCCCGG (p.Ala185_Ala186insValAlaValLeuAlaPro)
|
rs2133783534
|
|
|
NM_001122630.2(CDKN1C):c.558C>T (p.Ala186=)
|
rs1590149701
|
|
|
NM_001122630.2(CDKN1C):c.560_561insAGCCCC (p.186AP[11])
|
rs1848937405
|
|
|
NM_001122630.2(CDKN1C):c.561G>A (p.Pro187=)
|
rs1848937184
|
|
|
NM_001122630.2(CDKN1C):c.561G>C (p.Pro187=)
|
|
|
|
NM_001122630.2(CDKN1C):c.563_578delinsTCGCAGTCGCGGTCCT (p.Ala188_Pro193delinsValAlaValAlaValLeu)
|
|
|
|
NM_001122630.2(CDKN1C):c.566_567insGGCCCCGGCTCCGGCTCCGGCCCCGGCTCCAGTCGCGGCCCCGGCCCC (p.Val184_Pro199dup)
|
rs2133783423
|
|
|
NM_001122630.2(CDKN1C):c.567A>C (p.Pro189=)
|
rs529326848
|
|
|
NM_001122630.2(CDKN1C):c.567_572dup (p.186_187AP[11])
|
rs1060503860
|
|
|
NM_001122630.2(CDKN1C):c.567_584dup (p.186AP[13])
|
rs878853636
|
|
|
NM_001122630.2(CDKN1C):c.567_590dup (p.186_187AP[14])
|
rs878853637
|
|
|
NM_001122630.2(CDKN1C):c.567_596del (p.186_187AP[5])
|
rs1064792990
|
|
|
NM_001122630.2(CDKN1C):c.567_596dup (p.186_187AP[15])
|
rs1064792990
|
|
|
NM_001122630.2(CDKN1C):c.567_602del (p.186AP[4])
|
|
|
|
NM_001122630.2(CDKN1C):c.567_608del (p.186AP[3])
|
rs2133782940
|
|
|
NM_001122630.2(CDKN1C):c.567_608dup (p.Pro205_Asp206insAlaProAlaProAlaProAlaProAlaProAlaProAlaPro)
|
|
|
|
NM_001122630.2(CDKN1C):c.567_614del (p.186AP[2])
|
rs2133782879
|
|
|
NM_001122630.2(CDKN1C):c.569_570insTCCAGTCGCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGC (p.186_191AP[3]VAAPAPAPAPAPAP[1])
|
rs2133783340
|
|
|
NM_001122630.2(CDKN1C):c.570C>T (p.Ala190=)
|
rs1590149634
|
|
|
NM_001122630.2(CDKN1C):c.573G>A (p.Pro191=)
|
rs1396908491
|
|
|
NM_001122630.2(CDKN1C):c.573G>C (p.Pro191=)
|
rs1396908491
|
|
|
NM_001122630.2(CDKN1C):c.573GGCCCC[10] (p.186AP[16])
|
rs759134767
|
|
|
NM_001122630.2(CDKN1C):c.573GGCCCC[1] (p.186AP[7])
|
rs759134767
|
|
|
NM_001122630.2(CDKN1C):c.573GGCCCC[3] (p.186AP[9])
|
rs759134767
|
|
|
NM_001122630.2(CDKN1C):c.573GGCCCC[6] (p.186AP[12])
|
rs759134767
|
|
|
NM_001122630.2(CDKN1C):c.573GGCCCC[7] (p.186AP[13])
|
rs759134767
|
|
|
NM_001122630.2(CDKN1C):c.573GGCCCC[8] (p.186AP[14])
|
rs759134767
|
|
|
NM_001122630.2(CDKN1C):c.573GGCCCC[9] (p.186AP[15])
|
rs759134767
|
|
|
NM_001122630.2(CDKN1C):c.574_575insACCCGG (p.Pro191_Ala192insAspPro)
|
rs1590149612
|
|
|
NM_001122630.2(CDKN1C):c.575_616dup (p.186AP[17])
|
rs878853638
|
|
|
NM_001122630.2(CDKN1C):c.576C>A (p.Ala192=)
|
|
|
|
NM_001122630.2(CDKN1C):c.576C>T (p.Ala192=)
|
|
|
|
NM_001122630.2(CDKN1C):c.578_579insCGCCCCGGCCCC (p.186AP[12])
|
rs2133783254
|
|
|
NM_001122630.2(CDKN1C):c.579G>C (p.Pro193=)
|
rs794726872
|
|
|
NM_001122630.2(CDKN1C):c.579G>T (p.Pro193=)
|
rs794726872
|
|
|
NM_001122630.2(CDKN1C):c.582C>A (p.Ala194=)
|
|
|
|
NM_001122630.2(CDKN1C):c.585G>C (p.Pro195=)
|
rs1060503858
|
|
|
NM_001122630.2(CDKN1C):c.587_616del (p.186_187AP[5])
|
rs878853638
|
|
|
NM_001122630.2(CDKN1C):c.587_616dup (p.186_187AP[15])
|
rs878853638
|
|
|
NM_001122630.2(CDKN1C):c.588C>T (p.Ala196=)
|
rs1590149525
|
|
|
NM_001122630.2(CDKN1C):c.591G>A (p.Pro197=)
|
|
|
|
NM_001122630.2(CDKN1C):c.593_616dup (p.186_187AP[14])
|
rs778468310
|
|
|
NM_001122630.2(CDKN1C):c.594C>A (p.Ala198=)
|
|
|
|
NM_001122630.2(CDKN1C):c.594C>T (p.Ala198=)
|
rs1060503866
|
|
|
NM_001122630.2(CDKN1C):c.596_597insGGCCCCGGCCCCGGCCCCGGCCCCCGCCCCGGCCCCGGCCCCGGCCCCGGCCCC (p.186AP[19])
|
|
|
|
NM_001122630.2(CDKN1C):c.597C>T (p.Pro199=)
|
rs767656648
|
|
|
NM_001122630.2(CDKN1C):c.597_602del (p.186_187AP[9])
|
rs786205238
|
|
|
NM_001122630.2(CDKN1C):c.597_602dup (p.186_187AP[11])
|
rs786205238
|
|
|
NM_001122630.2(CDKN1C):c.597_608del (p.186_187AP[8])
|
rs1380480846
|
|
|
NM_001122630.2(CDKN1C):c.597_608dup (p.186_187AP[12])
|
rs1380480846
|
|
|
NM_001122630.2(CDKN1C):c.597_614del (p.186_187AP[7])
|
rs747360016
|
|
|
NM_001122630.2(CDKN1C):c.597_614dup (p.186AP[13])
|
rs747360016
|
|
|
NM_001122630.2(CDKN1C):c.599CCCCGG[1] (p.186AP[8])
|
rs772704243
|
|
|
NM_001122630.2(CDKN1C):c.599CCCCGG[2] (p.186AP[9])
|
rs772704243
|
|
|
NM_001122630.2(CDKN1C):c.599CCCCGG[4] (p.186AP[11])
|
rs772704243
|
|
|
NM_001122630.2(CDKN1C):c.599_600insACCGGC (p.186_187AP[11])
|
rs771450542
|
|
|
NM_001122630.2(CDKN1C):c.599_616del (p.186AP[7])
|
rs772704243
|
|
|
NM_001122630.2(CDKN1C):c.600C>A (p.Ala200=)
|
rs1435370896
|
|
|
NM_001122630.2(CDKN1C):c.601_602insAGGCCC (p.Ala200_Pro201insGlnAla)
|
rs2133782983
|
|
|
NM_001122630.2(CDKN1C):c.606C>T (p.Ala202=)
|
|
|
|
NM_001122630.2(CDKN1C):c.609G>T (p.Pro203=)
|
rs1214673011
|
|
|
NM_001122630.2(CDKN1C):c.60C>G (p.Arg20=)
|
rs1401021547
|
|
|
NM_001122630.2(CDKN1C):c.614_615insCGCCCC (p.186AP[11])
|
rs2133782868
|
|
|
NM_001122630.2(CDKN1C):c.618C>T (p.Asp206=)
|
rs751669088
|
|
|
NM_001122630.2(CDKN1C):c.621G>C (p.Ala207=)
|
rs1848929025
|
|
|
NM_001122630.2(CDKN1C):c.624G>A (p.Ala208=)
|
|
|
|
NM_001122630.2(CDKN1C):c.624G>T (p.Ala208=)
|
rs764536797
|
|
|
NM_001122630.2(CDKN1C):c.639C>G (p.Ala213=)
|
|
|
|
NM_001122630.2(CDKN1C):c.639C>T (p.Ala213=)
|
rs1350387177
|
|
|
NM_001122630.2(CDKN1C):c.63C>T (p.Ser21=)
|
rs1287644577
|
|
|
NM_001122630.2(CDKN1C):c.642G>A (p.Glu214=)
|
rs2133782678
|
|
|
NM_001122630.2(CDKN1C):c.643C>G (p.Gln215Glu)
|
rs483352987
|
|
|
NM_001122630.2(CDKN1C):c.651G>A (p.Ala217=)
|
rs761539484
|
|
|
NM_001122630.2(CDKN1C):c.651G>T (p.Ala217=)
|
rs761539484
|
|
|
NM_001122630.2(CDKN1C):c.660G>C (p.Gly220=)
|
rs1554937788
|
|
|
NM_001122630.2(CDKN1C):c.660G>T (p.Gly220=)
|
rs1554937788
|
|
|
NM_001122630.2(CDKN1C):c.666C>T (p.Arg222=)
|
rs779975908
|
|
|
NM_001122630.2(CDKN1C):c.66C>T (p.Leu22=)
|
rs960994716
|
|
|
NM_001122630.2(CDKN1C):c.681C>A (p.Leu227=)
|
rs1349273076
|
|
|
NM_001122630.2(CDKN1C):c.681C>G (p.Leu227=)
|
rs1349273076
|
|
|
NM_001122630.2(CDKN1C):c.681C>T (p.Leu227=)
|
rs1349273076
|
|
|
NM_001122630.2(CDKN1C):c.684T>C (p.Ala228=)
|
rs757359164
|
|
|
NM_001122630.2(CDKN1C):c.691C>T (p.Leu231=)
|
|
|
|
NM_001122630.2(CDKN1C):c.69C>T (p.Phe23=)
|
rs1590151526
|
|
|
NM_001122630.2(CDKN1C):c.708G>T (p.Ser236=)
|
rs1404692297
|
|
|
NM_001122630.2(CDKN1C):c.714T>A (p.Arg238=)
|
|
|
|
NM_001122630.2(CDKN1C):c.717C>A (p.Pro239=)
|
rs1156886923
|
|
|
NM_001122630.2(CDKN1C):c.717C>T (p.Pro239=)
|
|
|
|
NM_001122630.2(CDKN1C):c.720G>A (p.Ala240=)
|
rs1848920006
|
|
|
NM_001122630.2(CDKN1C):c.729C>T (p.Thr243=)
|
rs1198470133
|
|
|
NM_001122630.2(CDKN1C):c.72G>A (p.Gly24=)
|
rs2133786339
|
|
|
NM_001122630.2(CDKN1C):c.72G>T (p.Gly24=)
|
rs2133786339
|
|
|
NM_001122630.2(CDKN1C):c.735C>A (p.Ala245=)
|
|
|
|
NM_001122630.2(CDKN1C):c.735C>T (p.Ala245=)
|
rs2133782212
|
|
|
NM_001122630.2(CDKN1C):c.738C>G (p.Ala246=)
|
rs2133782169
|
|
|
NM_001122630.2(CDKN1C):c.738C>T (p.Ala246=)
|
|
|
|
NM_001122630.2(CDKN1C):c.741C>T (p.Ser247=)
|
rs761296394
|
|
|
NM_001122630.2(CDKN1C):c.744C>T (p.Ala248=)
|
rs1590148914
|
|
|
NM_001122630.2(CDKN1C):c.750C>G (p.Gly250=)
|
|
|
|
NM_001122630.2(CDKN1C):c.750C>T (p.Gly250=)
|
|
|
|
NM_001122630.2(CDKN1C):c.753G>A (p.Ala251=)
|
rs775458829
|
|
|
NM_001122630.2(CDKN1C):c.753G>T (p.Ala251=)
|
rs775458829
|
|
|
NM_001122630.2(CDKN1C):c.756G>A (p.Ala252=)
|
|
|
|
NM_001122630.2(CDKN1C):c.759C>T (p.Ile253=)
|
|
|
|
NM_001122630.2(CDKN1C):c.75G>A (p.Pro25=)
|
|
|
|
NM_001122630.2(CDKN1C):c.765G>A (p.Lys255=)
|
rs1590148866
|
|
|
NM_001122630.2(CDKN1C):c.768G>C (p.Leu256=)
|
rs745815931
|
|
|
NM_001122630.2(CDKN1C):c.771C>A (p.Ser257=)
|
rs747104008
|
|
|
NM_001122630.2(CDKN1C):c.771C>T (p.Ser257=)
|
rs747104008
|
|
|
NM_001122630.2(CDKN1C):c.778C>T (p.Leu260=)
|
rs2133781944
|
|
|
NM_001122630.2(CDKN1C):c.780G>C (p.Leu260=)
|
|
|
|
NM_001122630.2(CDKN1C):c.783C>T (p.Ile261=)
|
rs2133781923
|
|
|
NM_001122630.2(CDKN1C):c.787+10G>C
|
rs777855717
|
|
|
NM_001122630.2(CDKN1C):c.787+11C>A
|
rs2133781851
|
|
|
NM_001122630.2(CDKN1C):c.787+13C>G
|
rs1174788969
|
|
|
NM_001122630.2(CDKN1C):c.787+13C>T
|
|
|
|
NM_001122630.2(CDKN1C):c.787+13del
|
|
|
|
NM_001122630.2(CDKN1C):c.787+14G>T
|
rs2133781842
|
|
|
NM_001122630.2(CDKN1C):c.787+15del
|
|
|
|
NM_001122630.2(CDKN1C):c.787+16C>T
|
rs1848913867
|
|
|
NM_001122630.2(CDKN1C):c.787+16_787+25del
|
rs748889587
|
|
|
NM_001122630.2(CDKN1C):c.787+20G>A
|
|
|
|
NM_001122630.2(CDKN1C):c.787+7C>A
|
rs1848914279
|
|
|
NM_001122630.2(CDKN1C):c.787+7C>G
|
rs1848914279
|
|
|
NM_001122630.2(CDKN1C):c.787+7C>T
|
rs1848914279
|
|
|
NM_001122630.2(CDKN1C):c.787+8C>G
|
rs2133781869
|
|
|
NM_001122630.2(CDKN1C):c.787+9C>G
|
|
|
|
NM_001122630.2(CDKN1C):c.787+9C>T
|
rs2133781865
|
|
|
NM_001122630.2(CDKN1C):c.788-11G>A
|
|
|
|
NM_001122630.2(CDKN1C):c.788-13C>G
|
|
|
|
NM_001122630.2(CDKN1C):c.788-14G>T
|
|
|
|
NM_001122630.2(CDKN1C):c.788-15C>G
|
|
|
|
NM_001122630.2(CDKN1C):c.788-17C>T
|
|
|
|
NM_001122630.2(CDKN1C):c.788-18G>A
|
|
|
|
NM_001122630.2(CDKN1C):c.788-18G>T
|
|
|
|
NM_001122630.2(CDKN1C):c.788-20G>T
|
rs763621138
|
|
|
NM_001122630.2(CDKN1C):c.788-4G>A
|
rs764972822
|
|
|
NM_001122630.2(CDKN1C):c.788-5C>G
|
rs775227462
|
|
|
NM_001122630.2(CDKN1C):c.788-6C>T
|
rs2133780406
|
|
|
NM_001122630.2(CDKN1C):c.788-8G>T
|
rs762520730
|
|
|
NM_001122630.2(CDKN1C):c.804C>T (p.Arg268=)
|
rs1564928743
|
|
|
NM_001122630.2(CDKN1C):c.807G>A (p.Lys269=)
|
rs1848882642
|
|
|
NM_001122630.2(CDKN1C):c.808A>C (p.Arg270=)
|
rs483352996
|
|
|
NM_001122630.2(CDKN1C):c.813A>T (p.Ser271=)
|
|
|
|
NM_001122630.2(CDKN1C):c.816G>A (p.Ala272=)
|
rs1554937506
|
|
|
NM_001122630.2(CDKN1C):c.822G>A (p.Glu274=)
|
|
|
|
NM_001122630.2(CDKN1C):c.825G>A (p.Lys275=)
|
rs1314520245
|
|
|
NM_001122630.2(CDKN1C):c.828G>A (p.Ser276=)
|
rs373252940
|
|
|
NM_001122630.2(CDKN1C):c.828G>C (p.Ser276=)
|
rs373252940
|
|
|
NM_001122630.2(CDKN1C):c.840C>A (p.Val280=)
|
rs2133780180
|
|
|
NM_001122630.2(CDKN1C):c.843C>G (p.Pro281=)
|
rs773166985
|
|
|
NM_001122630.2(CDKN1C):c.843C>T (p.Pro281=)
|
rs773166985
|
|
|
NM_001122630.2(CDKN1C):c.846G>A (p.Ala282=)
|
rs1848879035
|
|
|
NM_001122630.2(CDKN1C):c.849G>A (p.Pro283=)
|
rs1161173002
|
|
|
NM_001122630.2(CDKN1C):c.849G>C (p.Pro283=)
|
|
|
|
NM_001122630.2(CDKN1C):c.849G>T (p.Pro283=)
|
|
|
|
NM_001122630.2(CDKN1C):c.84C>T (p.His28=)
|
rs760980314
|
|
|
NM_001122630.2(CDKN1C):c.852T>C (p.Cys284=)
|
rs1564928644
|
|
|
NM_001122630.2(CDKN1C):c.855C>G (p.Pro285=)
|
rs779172459
|
|
|
NM_001122630.2(CDKN1C):c.861A>C (p.Pro287=)
|
rs1848877871
|
|
|
NM_001122630.2(CDKN1C):c.864C>T (p.Ser288=)
|
rs1554937479
|
|
|
NM_001122630.2(CDKN1C):c.867C>T (p.Ala289=)
|
|
|
|
NM_001122630.2(CDKN1C):c.870C>G (p.Ala290=)
|
rs1802775
|
|
|
NM_001122630.2(CDKN1C):c.870C>T (p.Ala290=)
|
rs1802775
|
|
|
NM_001122630.2(CDKN1C):c.873T>C (p.Pro291=)
|
rs780417247
|
|
|
NM_001122630.2(CDKN1C):c.873T>G (p.Pro291=)
|
rs780417247
|
|
|
NM_001122630.2(CDKN1C):c.879G>C (p.Val293=)
|
|
|
|
NM_001122630.2(CDKN1C):c.882C>T (p.Gly294=)
|
rs2133779977
|
|
|
NM_001122630.2(CDKN1C):c.885G>A (p.Ser295=)
|
rs1060503861
|
|
|
NM_001122630.2(CDKN1C):c.897C>G (p.Thr299=)
|
|
|
|
NM_001122630.2(CDKN1C):c.900G>A (p.Pro300=)
|
rs1364915876
|
|
|
NM_001122630.2(CDKN1C):c.900G>T (p.Pro300=)
|
rs1364915876
|
|
|
NM_001122630.2(CDKN1C):c.903C>G (p.Arg301=)
|
rs1848873750
|
|
|
NM_001122630.2(CDKN1C):c.903C>T (p.Arg301=)
|
rs1848873750
|
|
|
NM_001122630.2(CDKN1C):c.90G>A (p.Glu30=)
|
rs1468271941
|
|
|
NM_001122630.2(CDKN1C):c.912G>T (p.Leu304=)
|
rs2133779878
|
|
|
NM_001122630.2(CDKN1C):c.96C>T (p.Ser32=)
|
|
|
|
NM_001130965.3(SUN1):c.1053+7G>A
|
rs2128396512
|
|
|
NM_001130965.3(SUN1):c.1068T>A (p.Ala356=)
|
rs2128400415
|
|
|
NM_001130965.3(SUN1):c.1074G>A (p.Pro358=)
|
|
|
|
NM_001130965.3(SUN1):c.1080T>C (p.His360=)
|
rs1554263560
|
|
|
NM_001130965.3(SUN1):c.1104G>A (p.Gln368=)
|
rs1279863264
|
|
|
NM_001130965.3(SUN1):c.1116G>A (p.Leu372=)
|
|
|
|
NM_001130965.3(SUN1):c.1215C>T (p.Ala405=)
|
|
|
|
NM_001130965.3(SUN1):c.1230G>T (p.Ser410=)
|
|
|
|
NM_001130965.3(SUN1):c.1251G>A (p.Gln417=)
|
|
|
|
NM_001130965.3(SUN1):c.1257G>A (p.Pro419=)
|
rs370495368
|
|
|
NM_001130965.3(SUN1):c.1290A>G (p.Glu430=)
|
|
|
|
NM_001130965.3(SUN1):c.129C>T (p.Asp43=)
|
|
|
|
NM_001130965.3(SUN1):c.132T>A (p.Pro44=)
|
rs551076611
|
|
|
NM_001130965.3(SUN1):c.1350+13G>C
|
rs368425106
|
|
|
NM_001130965.3(SUN1):c.1351-11A>G
|
|
|
|
NM_001130965.3(SUN1):c.1351-12C>G
|
|
|
|
NM_001130965.3(SUN1):c.1351-12C>T
|
rs1342294473
|
|
|
NM_001130965.3(SUN1):c.1394+20_1394+21del
|
|
|
|
NM_001130965.3(SUN1):c.1395-14C>T
|
|
|
|
NM_001130965.3(SUN1):c.1395-18C>G
|
rs901766935
|
|
|
NM_001130965.3(SUN1):c.1395-8dup
|
rs767286803
|
|
|
NM_001130965.3(SUN1):c.1416G>A (p.Leu472=)
|
|
|
|
NM_001130965.3(SUN1):c.1425_1426delinsGA (p.Glu476Lys)
|
rs2128441763
|
|
|
NM_001130965.3(SUN1):c.1440G>A (p.Leu480=)
|
rs1585023977
|
|
|
NM_001130965.3(SUN1):c.1452G>A (p.Gln484=)
|
rs769379867
|
|
|
NM_001130965.3(SUN1):c.1491C>G (p.Thr497=)
|
rs756560984
|
|
|
NM_001130965.3(SUN1):c.1491C>T (p.Thr497=)
|
|
|
|
NM_001130965.3(SUN1):c.1512C>A (p.Ala504=)
|
rs748209663
|
|
|
NM_001130965.3(SUN1):c.1525-6T>C
|
rs1831067148
|
|
|
NM_001130965.3(SUN1):c.1530C>T (p.Asp510=)
|
rs369720300
|
|
|
NM_001130965.3(SUN1):c.1581C>T (p.Gly527=)
|
|
|
|
NM_001130965.3(SUN1):c.1587T>C (p.Ser529=)
|
rs1033833962
|
|
|
NM_001130965.3(SUN1):c.1675C>T (p.Leu559=)
|
|
|
|
NM_001130965.3(SUN1):c.1695C>T (p.His565=)
|
|
|
|
NM_001130965.3(SUN1):c.1737G>A (p.Val579=)
|
|
|
|
NM_001130965.3(SUN1):c.174G>C (p.Leu58=)
|
rs776352769
|
|
|
NM_001130965.3(SUN1):c.1779+15C>T
|
|
|
|
NM_001130965.3(SUN1):c.1779+7C>T
|
rs775564962
|
|
|
NM_001130965.3(SUN1):c.1779+8G>A
|
|
|
|
NM_001130965.3(SUN1):c.1779+8G>T
|
|
|
|
NM_001130965.3(SUN1):c.177C>T (p.Ala59=)
|
rs745467961
|
|
|
NM_001130965.3(SUN1):c.1780-12G>A
|
|
|
|
NM_001130965.3(SUN1):c.1780-19G>A
|
|
|
|
NM_001130965.3(SUN1):c.1780-20C>T
|
|
|
|
NM_001130965.3(SUN1):c.1833C>T (p.Thr611=)
|
rs774347766
|
|
|
NM_001130965.3(SUN1):c.1864+14C>A
|
|
|
|
NM_001130965.3(SUN1):c.193C>T (p.Leu65=)
|
rs774353215
|
|
|
NM_001130965.3(SUN1):c.1956G>A (p.Ser652=)
|
|
|
|
NM_001130965.3(SUN1):c.1971G>C (p.Val657=)
|
|
|
|
NM_001130965.3(SUN1):c.1980+12C>T
|
|
|
|
NM_001130965.3(SUN1):c.1981-6C>A
|
rs766555403
|
|
|
NM_001130965.3(SUN1):c.2046C>T (p.Leu682=)
|
rs1334345429
|
|
|
NM_001130965.3(SUN1):c.2127C>T (p.Ala709=)
|
|
|
|
NM_001130965.3(SUN1):c.2148+16C>T
|
|
|
|
NM_001130965.3(SUN1):c.2148+9C>G
|
|
|
|
NM_001130965.3(SUN1):c.2149-15T>C
|
|
|
|
NM_001130965.3(SUN1):c.2199G>T (p.Thr733=)
|
|
|
|
NM_001130965.3(SUN1):c.219C>T (p.Ala73=)
|
|
|
|
NM_001130965.3(SUN1):c.2241+16G>A
|
|
|
|
NM_001130965.3(SUN1):c.2241+9T>C
|
rs2128602540
|
|
|
NM_001130965.3(SUN1):c.2241+9dup
|
|
|
|
NM_001130965.3(SUN1):c.2242-10T>C
|
|
|
|
NM_001130965.3(SUN1):c.2253C>T (p.Asp751=)
|
|
|
|
NM_001130965.3(SUN1):c.2265C>T (p.Phe755=)
|
|
|
|
NM_001130965.3(SUN1):c.2277A>G (p.Glu759=)
|
|
|
|
NM_001130965.3(SUN1):c.2295C>T (p.Asn765=)
|
rs1465729615
|
|
|
NM_001130965.3(SUN1):c.240T>C (p.Ala80=)
|
|
|
|
NM_001130965.3(SUN1):c.243C>T (p.Val81=)
|
rs774928207
|
|
|
NM_001130965.3(SUN1):c.258A>G (p.Arg86=)
|
|
|
|
NM_001130965.3(SUN1):c.261G>A (p.Ala87=)
|
|
|
|
NM_001130965.3(SUN1):c.266+19C>G
|
|
|
|
NM_001130965.3(SUN1):c.266+20C>T
|
|
|
|
NM_001130965.3(SUN1):c.267-10T>C
|
|
|
|
NM_001130965.3(SUN1):c.267-16T>G
|
rs2128296251
|
|
|
NM_001130965.3(SUN1):c.309T>C (p.Ser103=)
|
rs1810486661
|
|
|
NM_001130965.3(SUN1):c.357C>T (p.Gly119=)
|
|
|
|
NM_001130965.3(SUN1):c.369C>T (p.Ser123=)
|
|
|
|
NM_001130965.3(SUN1):c.402A>T (p.Val134=)
|
|
|
|
NM_001130965.3(SUN1):c.42T>C (p.Cys14=)
|
rs1470629872
|
|
|
NM_001130965.3(SUN1):c.451+19_451+20del
|
|
|
|
NM_001130965.3(SUN1):c.452-11T>G
|
|
|
|
NM_001130965.3(SUN1):c.452-13T>G
|
rs1562623023
|
|
|
NM_001130965.3(SUN1):c.452-13_452-12insG
|
rs537734027
|
|
|
NM_001130965.3(SUN1):c.452-18G>A
|
|
|
|
NM_001130965.3(SUN1):c.510G>C (p.Gly170=)
|
rs771738533
|
|
|
NM_001130965.3(SUN1):c.528C>T (p.Ala176=)
|
|
|
|
NM_001130965.3(SUN1):c.576C>T (p.Ser192=)
|
|
|
|
NM_001130965.3(SUN1):c.588C>T (p.Asp196=)
|
rs766319627
|
|
|
NM_001130965.3(SUN1):c.615C>G (p.Pro205=)
|
|
|
|
NM_001130965.3(SUN1):c.615C>T (p.Pro205=)
|
|
|
|
NM_001130965.3(SUN1):c.659-10C>T
|
|
|
|
NM_001130965.3(SUN1):c.659-20C>T
|
|
|
|
NM_001130965.3(SUN1):c.723G>A (p.Ala241=)
|
rs537602092
|
|
|
NM_001130965.3(SUN1):c.744C>G (p.Ala248=)
|
rs776155785
|
|
|
NM_001130965.3(SUN1):c.757+11T>C
|
|
|
|
NM_001130965.3(SUN1):c.757+20G>A
|
|
|
|
NM_001130965.3(SUN1):c.757+9T>G
|
rs1584857820
|
|
|
NM_001130965.3(SUN1):c.77+12C>T
|
|
|
|
NM_001130965.3(SUN1):c.77+13C>T
|
|
|
|
NM_001130965.3(SUN1):c.77+18C>T
|
|
|
|
NM_001130965.3(SUN1):c.78-15G>A
|
rs1806085115
|
|
|
NM_001130965.3(SUN1):c.851+11G>T
|
|
|
|
NM_001130965.3(SUN1):c.851+9A>G
|
rs1182624920
|
|
|
NM_001130965.3(SUN1):c.852-5C>T
|
|
|
|
NM_001130965.3(SUN1):c.852-7C>T
|
rs372242822
|
|
|
NM_001130965.3(SUN1):c.910+9A>G
|
|
|
|
NM_001130965.3(SUN1):c.910+9A>T
|
rs1584888130
|
|
|
NM_001130965.3(SUN1):c.918C>G (p.Leu306=)
|
|
|
|
NM_001134363.3(RBM20):c.1008T>C (p.Gly336=)
|
|
|
|
NM_001134363.3(RBM20):c.1020T>A (p.Pro340=)
|
|
|
|
NM_001134363.3(RBM20):c.1023A>G (p.Pro341=)
|
|
|
|
NM_001134363.3(RBM20):c.1029C>T (p.His343=)
|
rs1844351084
|
|
|
NM_001134363.3(RBM20):c.103C>A (p.Pro35Thr)
|
|
|
|
NM_001134363.3(RBM20):c.103C>T (p.Pro35Ser)
|
|
|
|
NM_001134363.3(RBM20):c.1051G>C (p.Asp351His)
|
rs372999896
|
|
|
NM_001134363.3(RBM20):c.1056C>T (p.Pro352=)
|
rs397516590
|
|
|
NM_001134363.3(RBM20):c.1070C>A (p.Ser357Ter)
|
|
|
|
NM_001134363.3(RBM20):c.1099C>T (p.Arg367Trp)
|
|
|
|
NM_001134363.3(RBM20):c.1101G>T (p.Arg367=)
|
rs796631295
|
|
|
NM_001134363.3(RBM20):c.1110C>T (p.Asn370=)
|
rs2135044517
|
|
|
NM_001134363.3(RBM20):c.1134T>C (p.Ala378=)
|
|
|
|
NM_001134363.3(RBM20):c.1144G>T (p.Ala382Ser)
|
|
|
|
NM_001134363.3(RBM20):c.1172T>C (p.Val391Ala)
|
rs567118667
|
|
|
NM_001134363.3(RBM20):c.1176G>A (p.Arg392=)
|
|
|
|
NM_001134363.3(RBM20):c.1191T>C (p.His397=)
|
rs2135044886
|
|
|
NM_001134363.3(RBM20):c.1212T>G (p.Gly404=)
|
rs2135045032
|
|
|
NM_001134363.3(RBM20):c.1221C>T (p.Pro407=)
|
|
|
|
NM_001134363.3(RBM20):c.1233G>A (p.Pro411=)
|
|
|
|
NM_001134363.3(RBM20):c.1236T>C (p.His412=)
|
rs892831520
|
|
|
NM_001134363.3(RBM20):c.1239C>T (p.Ile413=)
|
rs1844356909
|
|
|
NM_001134363.3(RBM20):c.1251T>C (p.Cys417=)
|
|
|
|
NM_001134363.3(RBM20):c.1263G>A (p.Val421=)
|
rs1844357538
|
|
|
NM_001134363.3(RBM20):c.1275+16C>T
|
|
|
|
NM_001134363.3(RBM20):c.1275+17A>G
|
|
|
|
NM_001134363.3(RBM20):c.1275+9T>A
|
|
|
|
NM_001134363.3(RBM20):c.1276-17C>T
|
|
|
|
NM_001134363.3(RBM20):c.1305G>A (p.Leu435=)
|
|
|
|
NM_001134363.3(RBM20):c.1314G>A (p.Gln438=)
|
rs2135048107
|
|
|
NM_001134363.3(RBM20):c.1323G>A (p.Leu441=)
|
|
|
|
NM_001134363.3(RBM20):c.1326C>T (p.Val442=)
|
rs147650685
|
|
|
NM_001134363.3(RBM20):c.1332T>C (p.Ser444=)
|
rs2135048193
|
|
|
NM_001134363.3(RBM20):c.1337+18_1337+20del
|
rs2135048263
|
|
|
NM_001134363.3(RBM20):c.1337+7G>T
|
rs2135048234
|
|
|
NM_001134363.3(RBM20):c.1337+8C>T
|
|
|
|
NM_001134363.3(RBM20):c.1338-12C>T
|
|
|
|
NM_001134363.3(RBM20):c.1338-4C>T
|
|
|
|
NM_001134363.3(RBM20):c.1338-9C>T
|
rs1564845243
|
|
|
NM_001134363.3(RBM20):c.1350G>A (p.Arg450=)
|
|
|
|
NM_001134363.3(RBM20):c.1356A>T (p.Ile452=)
|
rs745544964
|
|
|
NM_001134363.3(RBM20):c.1386T>C (p.Ala462=)
|
rs2135050149
|
|
|
NM_001134363.3(RBM20):c.138G>T (p.Pro46=)
|
|
|
|
NM_001134363.3(RBM20):c.1416T>G (p.Pro472=)
|
|
|
|
NM_001134363.3(RBM20):c.1417G>A (p.Ala473Thr)
|
|
|
|
NM_001134363.3(RBM20):c.1422G>A (p.Gly474=)
|
|
|
|
NM_001134363.3(RBM20):c.1430-19T>C
|
rs2135050904
|
|
|
NM_001134363.3(RBM20):c.1430-20_1430-19del
|
rs749067157
|
|
|
NM_001134363.3(RBM20):c.1430-9A>G
|
|
|
|
NM_001134363.3(RBM20):c.1452A>G (p.Thr484=)
|
rs2135050991
|
|
|
NM_001134363.3(RBM20):c.1470A>C (p.Pro490=)
|
|
|
|
NM_001134363.3(RBM20):c.1470A>G (p.Pro490=)
|
|
|
|
NM_001134363.3(RBM20):c.1476G>A (p.Arg492=)
|
|
|
|
NM_001134363.3(RBM20):c.150A>C (p.Pro50=)
|
rs376936285
|
|
|
NM_001134363.3(RBM20):c.150A>G (p.Pro50=)
|
rs376936285
|
|
|
NM_001134363.3(RBM20):c.1521G>T (p.Gly507=)
|
|
|
|
NM_001134363.3(RBM20):c.1527+19T>C
|
|
|
|
NM_001134363.3(RBM20):c.1527+9G>A
|
rs1057521554
|
|
|
NM_001134363.3(RBM20):c.1528-12del
|
|
|
|
NM_001134363.3(RBM20):c.1528-13T>C
|
|
|
|
NM_001134363.3(RBM20):c.1528-17A>T
|
|
|
|
NM_001134363.3(RBM20):c.1528-4T>A
|
rs1844564958
|
|
|
NM_001134363.3(RBM20):c.1537C>T (p.Arg513Trp)
|
|
|
|
NM_001134363.3(RBM20):c.1548T>C (p.Ala516=)
|
rs2135073651
|
|
|
NM_001134363.3(RBM20):c.1596G>A (p.Glu532=)
|
|
|
|
NM_001134363.3(RBM20):c.15A>T (p.Ala5=)
|
rs1267175101
|
|
|
NM_001134363.3(RBM20):c.1612C>T (p.Leu538=)
|
rs876657569
|
|
|
NM_001134363.3(RBM20):c.162C>T (p.Pro54=)
|
|
|
|
NM_001134363.3(RBM20):c.1632G>A (p.Lys544=)
|
|
|
|
NM_001134363.3(RBM20):c.1644C>T (p.Tyr548=)
|
|
|
|
NM_001134363.3(RBM20):c.1659G>T (p.Ser553=)
|
|
|
|
NM_001134363.3(RBM20):c.1668+19A>G
|
|
|
|
NM_001134363.3(RBM20):c.1668+7C>G
|
|
|
|
NM_001134363.3(RBM20):c.1668+8T>G
|
rs755752098
|
|
|
NM_001134363.3(RBM20):c.1669-13del
|
|
|
|
NM_001134363.3(RBM20):c.1669-14C>T
|
rs1355193222
|
|
|
NM_001134363.3(RBM20):c.1669-16T>C
|
|
|
|
NM_001134363.3(RBM20):c.1669-16T>G
|
|
|
|
NM_001134363.3(RBM20):c.1669-17C>A
|
|
|
|
NM_001134363.3(RBM20):c.1669-6_1669-3del
|
rs903324770
|
|
|
NM_001134363.3(RBM20):c.1677A>G (p.Leu559=)
|
rs2135078497
|
|
|
NM_001134363.3(RBM20):c.1689C>T (p.Tyr563=)
|
|
|
|
NM_001134363.3(RBM20):c.1695A>G (p.Glu565=)
|
|
|
|
NM_001134363.3(RBM20):c.1727A>G (p.Glu576Gly)
|
|
|
|
NM_001134363.3(RBM20):c.1728A>G (p.Glu576=)
|
|
|
|
NM_001134363.3(RBM20):c.1731A>G (p.Lys577=)
|
|
|
|
NM_001134363.3(RBM20):c.1740G>C (p.Val580=)
|
|
|
|
NM_001134363.3(RBM20):c.1749T>C (p.Gly583=)
|
rs1298796345
|
|
|
NM_001134363.3(RBM20):c.174A>G (p.Leu58=)
|
|
|
|
NM_001134363.3(RBM20):c.1766G>A (p.Arg589Gln)
|
rs368716639
|
|
|
NM_001134363.3(RBM20):c.1782C>T (p.Tyr594=)
|
|
|
|
NM_001134363.3(RBM20):c.1800+15T>C
|
|
|
|
NM_001134363.3(RBM20):c.1800+7C>T
|
|
|
|
NM_001134363.3(RBM20):c.1800+8A>G
|
rs2135079032
|
|
|
NM_001134363.3(RBM20):c.1801-15C>G
|
|
|
|
NM_001134363.3(RBM20):c.1809G>A (p.Gly603=)
|
rs2135099769
|
|
|
NM_001134363.3(RBM20):c.1815C>G (p.Ala605=)
|
|
|
|
NM_001134363.3(RBM20):c.1833G>A (p.Gln611=)
|
rs1361347193
|
|
|
NM_001134363.3(RBM20):c.1839C>T (p.Ile613=)
|
|
|
|
NM_001134363.3(RBM20):c.183C>T (p.Ile61=)
|
|
|
|
NM_001134363.3(RBM20):c.1878C>T (p.Asp626=)
|
|
|
|
NM_001134363.3(RBM20):c.1880+11A>G
|
|
|
|
NM_001134363.3(RBM20):c.1880+14_1880+20del
|
|
|
|
NM_001134363.3(RBM20):c.1880+16C>T
|
rs1249605174
|
|
|
NM_001134363.3(RBM20):c.1880+19A>C
|
rs1350808746
|
|
|
NM_001134363.3(RBM20):c.1880+4_1880+6dup
|
rs397516597
|
|
|
NM_001134363.3(RBM20):c.1880+7C>T
|
rs2135100046
|
|
|
NM_001134363.3(RBM20):c.1880+9C>T
|
rs1590694368
|
|
|
NM_001134363.3(RBM20):c.1881-12G>T
|
|
|
|
NM_001134363.3(RBM20):c.1881-15T>C
|
|
|
|
NM_001134363.3(RBM20):c.1881-16C>T
|
|
|
|
NM_001134363.3(RBM20):c.1881-5C>T
|
|
|
|
NM_001134363.3(RBM20):c.1881-7C>T
|
rs1590695581
|
|
|
NM_001134363.3(RBM20):c.1881-9C>T
|
|
|
|
NM_001134363.3(RBM20):c.1884T>C (p.Tyr628=)
|
|
|
|
NM_001134363.3(RBM20):c.1900C>A (p.Arg634=)
|
rs796734066
|
|
|
NM_001134363.3(RBM20):c.191+6_191+8del
|
|
|
|
NM_001134363.3(RBM20):c.191+7A>C
|
rs2134793391
|
|
|
NM_001134363.3(RBM20):c.1920C>T (p.Ser640=)
|
rs1439106449
|
|
|
NM_001134363.3(RBM20):c.1941C>G (p.Ser647=)
|
|
|
|
NM_001134363.3(RBM20):c.1959C>T (p.Thr653=)
|
|
|
|
NM_001134363.3(RBM20):c.195C>T (p.Ala65=)
|
|
|
|
NM_001134363.3(RBM20):c.1985C>T (p.Pro662Leu)
|
|
|
|
NM_001134363.3(RBM20):c.1992C>A (p.Pro664=)
|
|
|
|
NM_001134363.3(RBM20):c.1994C>G (p.Ser665Cys)
|
|
|
|
NM_001134363.3(RBM20):c.1995C>T (p.Ser665=)
|
|
|
|
NM_001134363.3(RBM20):c.1997G>A (p.Arg666Gln)
|
|
|
|
NM_001134363.3(RBM20):c.2002G>A (p.Asp668Asn)
|
|
|
|
NM_001134363.3(RBM20):c.2017C>A (p.Arg673=)
|
|
|
|
NM_001134363.3(RBM20):c.201G>A (p.Lys67=)
|
rs752370319
|
|
|
NM_001134363.3(RBM20):c.2046C>T (p.Ala682=)
|
rs758501891
|
|
|
NM_001134363.3(RBM20):c.2051G>A (p.Arg684Lys)
|
|
|
|
NM_001134363.3(RBM20):c.2061G>A (p.Glu687=)
|
rs2135104380
|
|
|
NM_001134363.3(RBM20):c.2088C>T (p.Asn696=)
|
|
|
|
NM_001134363.3(RBM20):c.2097C>T (p.Asp699=)
|
|
|
|
NM_001134363.3(RBM20):c.20T>G (p.Met7Arg)
|
|
|
|
NM_001134363.3(RBM20):c.2100G>A (p.Lys700=)
|
|
|
|
NM_001134363.3(RBM20):c.2109G>T (p.Arg703Ser)
|
|
|
|
NM_001134363.3(RBM20):c.2118C>T (p.Pro706=)
|
rs1590696006
|
|
|
NM_001134363.3(RBM20):c.2166G>A (p.Glu722=)
|
|
|
|
NM_001134363.3(RBM20):c.2189G>A (p.Gly730Glu)
|
|
|
|
NM_001134363.3(RBM20):c.2196C>T (p.Pro732=)
|
rs1554842740
|
|
|
NM_001134363.3(RBM20):c.2199C>T (p.His733=)
|
|
|
|
NM_001134363.3(RBM20):c.2208G>A (p.Lys736=)
|
|
|
|
NM_001134363.3(RBM20):c.2213C>T (p.Pro738Leu)
|
rs397516601
|
|
|
NM_001134363.3(RBM20):c.2214G>T (p.Pro738=)
|
rs1057523887
|
|
|
NM_001134363.3(RBM20):c.2223G>T (p.Gly741=)
|
rs2135105127
|
|
|
NM_001134363.3(RBM20):c.2229C>A (p.Pro743=)
|
rs1060504912
|
|
|
NM_001134363.3(RBM20):c.2229C>G (p.Pro743=)
|
rs1060504912
|
|
|
NM_001134363.3(RBM20):c.2241C>T (p.His747=)
|
rs2135105227
|
|
|
NM_001134363.3(RBM20):c.225G>A (p.Ser75=)
|
rs1170141703
|
|
|
NM_001134363.3(RBM20):c.2283G>T (p.Arg761=)
|
|
|
|
NM_001134363.3(RBM20):c.2286A>G (p.Lys762=)
|
rs2135105422
|
|
|
NM_001134363.3(RBM20):c.2288A>G (p.Glu763Gly)
|
|
|
|
NM_001134363.3(RBM20):c.2307C>T (p.Asp769=)
|
rs1201765706
|
|
|
NM_001134363.3(RBM20):c.2310G>A (p.Lys770=)
|
rs2135105608
|
|
|
NM_001134363.3(RBM20):c.2346C>G (p.Ser782=)
|
rs894709573
|
|
|
NM_001134363.3(RBM20):c.2346C>T (p.Ser782=)
|
|
|
|
NM_001134363.3(RBM20):c.2362G>T (p.Ala788Ser)
|
rs765544509
|
|
|
NM_001134363.3(RBM20):c.2367G>A (p.Arg789=)
|
|
|
|
NM_001134363.3(RBM20):c.2368C>T (p.Leu790=)
|
|
|
|
NM_001134363.3(RBM20):c.2370G>A (p.Leu790=)
|
|
|
|
NM_001134363.3(RBM20):c.2382A>G (p.Arg794=)
|
rs999008497
|
|
|
NM_001134363.3(RBM20):c.2385C>A (p.His795Gln)
|
rs781166982
|
|
|
NM_001134363.3(RBM20):c.2385C>T (p.His795=)
|
rs781166982
|
|
|
NM_001134363.3(RBM20):c.2416G>A (p.Gly806Arg)
|
|
|
|
NM_001134363.3(RBM20):c.2418G>T (p.Gly806=)
|
rs2135106059
|
|
|
NM_001134363.3(RBM20):c.2427A>G (p.Pro809=)
|
|
|
|
NM_001134363.3(RBM20):c.2448G>A (p.Glu816=)
|
|
|
|
NM_001134363.3(RBM20):c.244C>T (p.Leu82=)
|
|
|
|
NM_001134363.3(RBM20):c.2452G>A (p.Ala818Thr)
|
|
|
|
NM_001134363.3(RBM20):c.2462A>G (p.Lys821Arg)
|
|
|
|
NM_001134363.3(RBM20):c.2466G>A (p.Gln822=)
|
|
|
|
NM_001134363.3(RBM20):c.2493T>C (p.Thr831=)
|
rs2135106282
|
|
|
NM_001134363.3(RBM20):c.2496T>C (p.Asp832=)
|
|
|
|
NM_001134363.3(RBM20):c.2502C>T (p.Asp834=)
|
rs1695186546
|
|
|
NM_001134363.3(RBM20):c.2520T>C (p.Asp840=)
|
|
|
|
NM_001134363.3(RBM20):c.2532C>T (p.Asn844=)
|
|
|
|
NM_001134363.3(RBM20):c.2550+10A>G
|
rs2135106504
|
|
|
NM_001134363.3(RBM20):c.2550+19C>G
|
|
|
|
NM_001134363.3(RBM20):c.2550+7A>G
|
rs1554842826
|
|
|
NM_001134363.3(RBM20):c.2551-13T>C
|
rs2135118564
|
|
|
NM_001134363.3(RBM20):c.2551-14C>A
|
|
|
|
NM_001134363.3(RBM20):c.2551-16T>A
|
|
|
|
NM_001134363.3(RBM20):c.2551-17G>A
|
rs2135118541
|
|
|
NM_001134363.3(RBM20):c.2551-4T>C
|
|
|
|
NM_001134363.3(RBM20):c.2565_2570del (p.Gln856_Glu857del)
|
rs397516603
|
|
|
NM_001134363.3(RBM20):c.2574C>T (p.Gly858=)
|
|
|
|
NM_001134363.3(RBM20):c.2655+18T>C
|
|
|
|
NM_001134363.3(RBM20):c.2655+19T>G
|
|
|
|
NM_001134363.3(RBM20):c.2704C>A (p.Pro902Thr)
|
|
|
|
NM_001134363.3(RBM20):c.2730A>G (p.Thr910=)
|
|
|
|
NM_001134363.3(RBM20):c.2745G>A (p.Gly915=)
|
rs2135120951
|
|
|
NM_001134363.3(RBM20):c.2763C>T (p.Ile921=)
|
rs587781137
|
|
|
NM_001134363.3(RBM20):c.2781A>T (p.Pro927=)
|
|
|
|
NM_001134363.3(RBM20):c.2787G>A (p.Leu929=)
|
|
|
|
NM_001134363.3(RBM20):c.2799G>A (p.Val933=)
|
|
|
|
NM_001134363.3(RBM20):c.2817C>G (p.Asp939Glu)
|
|
|
|
NM_001134363.3(RBM20):c.2817C>T (p.Asp939=)
|
rs1225833082
|
|
|
NM_001134363.3(RBM20):c.2839C>T (p.Leu947=)
|
|
|
|
NM_001134363.3(RBM20):c.2844T>C (p.Cys948=)
|
rs727503389
|
|
|
NM_001134363.3(RBM20):c.2950C>T (p.Leu984=)
|
|
|
|
NM_001134363.3(RBM20):c.2961T>C (p.Ala987=)
|
|
|
|
NM_001134363.3(RBM20):c.2961T>G (p.Ala987=)
|
|
|
|
NM_001134363.3(RBM20):c.2970C>T (p.Ser990=)
|
|
|
|
NM_001134363.3(RBM20):c.2973T>C (p.Cys991=)
|
|
|
|
NM_001134363.3(RBM20):c.2988C>T (p.Asp996=)
|
rs1249673177
|
|
|
NM_001134363.3(RBM20):c.2989G>A (p.Val997Met)
|
rs372370653
|
|
|
NM_001134363.3(RBM20):c.2989G>T (p.Val997Leu)
|
rs372370653
|
|
|
NM_001134363.3(RBM20):c.3000T>C (p.Pro1000=)
|
rs1057522142
|
|
|
NM_001134363.3(RBM20):c.3003C>G (p.Gly1001=)
|
rs1590701744
|
|
|
NM_001134363.3(RBM20):c.3014A>G (p.Asp1005Gly)
|
|
|
|
NM_001134363.3(RBM20):c.3047G>A (p.Gly1016Asp)
|
rs540014314
|
|
|
NM_001134363.3(RBM20):c.3047G>C (p.Gly1016Ala)
|
rs540014314
|
|
|
NM_001134363.3(RBM20):c.3060G>A (p.Glu1020=)
|
|
|
|
NM_001134363.3(RBM20):c.3084G>A (p.Glu1028=)
|
rs1057524093
|
|
|
NM_001134363.3(RBM20):c.3087A>G (p.Ala1029=)
|
|
|
|
NM_001134363.3(RBM20):c.309G>A (p.Leu103=)
|
|
|
|
NM_001134363.3(RBM20):c.3105A>G (p.Ser1035=)
|
|
|
|
NM_001134363.3(RBM20):c.3123T>C (p.Pro1041=)
|
rs2135122095
|
|
|
NM_001134363.3(RBM20):c.3126A>G (p.Thr1042=)
|
|
|
|
NM_001134363.3(RBM20):c.3132G>A (p.Gln1044=)
|
|
|
|
NM_001134363.3(RBM20):c.3145C>T (p.Pro1049Ser)
|
|
|
|
NM_001134363.3(RBM20):c.3156A>G (p.Ala1052=)
|
rs2135122217
|
|
|
NM_001134363.3(RBM20):c.3162G>A (p.Glu1054=)
|
rs886046706
|
|
|
NM_001134363.3(RBM20):c.3166G>C (p.Ala1056Pro)
|
|
|
|
NM_001134363.3(RBM20):c.3168C>G (p.Ala1056=)
|
|
|
|
NM_001134363.3(RBM20):c.3171G>A (p.Arg1057=)
|
rs886038875
|
|
|
NM_001134363.3(RBM20):c.3171G>T (p.Arg1057=)
|
rs886038875
|
|
|
NM_001134363.3(RBM20):c.3189G>C (p.Val1063=)
|
|
|
|
NM_001134363.3(RBM20):c.3191A>G (p.Asp1064Gly)
|
|
|
|
NM_001134363.3(RBM20):c.3201G>A (p.Lys1067=)
|
rs1051700573
|
|
|
NM_001134363.3(RBM20):c.3205A>C (p.Arg1069=)
|
|
|
|
NM_001134363.3(RBM20):c.3209G>A (p.Gly1070Glu)
|
|
|
|
NM_001134363.3(RBM20):c.3212C>T (p.Thr1071Ile)
|
|
|
|
NM_001134363.3(RBM20):c.3225G>T (p.Gly1075=)
|
|
|
|
NM_001134363.3(RBM20):c.3231T>C (p.Cys1077=)
|
|
|
|
NM_001134363.3(RBM20):c.3240C>T (p.Ser1080=)
|
|
|
|
NM_001134363.3(RBM20):c.3242C>T (p.Pro1081Leu)
|
|
|
|
NM_001134363.3(RBM20):c.3249G>A (p.Glu1083=)
|
rs2135122572
|
|
|
NM_001134363.3(RBM20):c.3262C>G (p.Pro1088Ala)
|
rs969716149
|
|
|
NM_001134363.3(RBM20):c.3264C>T (p.Pro1088=)
|
rs1844918076
|
|
|
NM_001134363.3(RBM20):c.3265C>A (p.Pro1089Thr)
|
rs147356378
|
|
|
NM_001134363.3(RBM20):c.3267C>T (p.Pro1089=)
|
rs1590702086
|
|
|
NM_001134363.3(RBM20):c.3270C>T (p.Ile1090=)
|
rs1590702098
|
|
|
NM_001134363.3(RBM20):c.3275C>T (p.Thr1092Ile)
|
|
|
|
NM_001134363.3(RBM20):c.327T>G (p.Ala109=)
|
rs893150326
|
|
|
NM_001134363.3(RBM20):c.3288C>T (p.Asn1096=)
|
|
|
|
NM_001134363.3(RBM20):c.3316+13C>T
|
rs2135122853
|
|
|
NM_001134363.3(RBM20):c.3316+19C>T
|
|
|
|
NM_001134363.3(RBM20):c.3316+7A>G
|
|
|
|
NM_001134363.3(RBM20):c.3317-20C>T
|
rs202039414
|
|
|
NM_001134363.3(RBM20):c.3317-6T>C
|
rs2135125719
|
|
|
NM_001134363.3(RBM20):c.3331G>A (p.Val1111Met)
|
rs77110978
|
|
|
NM_001134363.3(RBM20):c.3331G>T (p.Val1111Leu)
|
rs77110978
|
|
|
NM_001134363.3(RBM20):c.333C>G (p.Thr111=)
|
rs994636707
|
|
|
NM_001134363.3(RBM20):c.3384G>A (p.Leu1128=)
|
rs2135125889
|
|
|
NM_001134363.3(RBM20):c.3387A>G (p.Lys1129=)
|
|
|
|
NM_001134363.3(RBM20):c.3408T>C (p.Ser1136=)
|
|
|
|
NM_001134363.3(RBM20):c.3417A>G (p.Pro1139=)
|
rs943336778
|
|
|
NM_001134363.3(RBM20):c.3421G>A (p.Asp1141Asn)
|
|
|
|
NM_001134363.3(RBM20):c.3422A>T (p.Asp1141Val)
|
|
|
|
NM_001134363.3(RBM20):c.3451+10A>C
|
|
|
|
NM_001134363.3(RBM20):c.3451+15C>G
|
rs901709377
|
|
|
NM_001134363.3(RBM20):c.3451+16A>G
|
|
|
|
NM_001134363.3(RBM20):c.3451+7A>C
|
rs1590703098
|
|
|
NM_001134363.3(RBM20):c.3451+9A>G
|
|
|
|
NM_001134363.3(RBM20):c.3452-11T>A
|
|
|
|
NM_001134363.3(RBM20):c.3452-14C>A
|
|
|
|
NM_001134363.3(RBM20):c.3452-17C>A
|
|
|
|
NM_001134363.3(RBM20):c.3453G>T (p.Gly1151=)
|
|
|
|
NM_001134363.3(RBM20):c.3456G>A (p.Val1152=)
|
|
|
|
NM_001134363.3(RBM20):c.3480C>G (p.Gly1160=)
|
|
|
|
NM_001134363.3(RBM20):c.3492G>A (p.Lys1164=)
|
rs1320944657
|
|
|
NM_001134363.3(RBM20):c.3507C>T (p.Phe1169=)
|
rs1220205224
|
|
|
NM_001134363.3(RBM20):c.351C>G (p.Ala117=)
|
|
|
|
NM_001134363.3(RBM20):c.3573+10C>T
|
rs864622733
|
|
|
NM_001134363.3(RBM20):c.3573+12C>G
|
|
|
|
NM_001134363.3(RBM20):c.3573+14C>G
|
|
|
|
NM_001134363.3(RBM20):c.3573+8T>A
|
|
|
|
NM_001134363.3(RBM20):c.3574-10C>T
|
|
|
|
NM_001134363.3(RBM20):c.3574-12T>G
|
|
|
|
NM_001134363.3(RBM20):c.3574-13C>A
|
rs1845119329
|
|
|
NM_001134363.3(RBM20):c.3574-16C>G
|
|
|
|
NM_001134363.3(RBM20):c.3574-18C>T
|
|
|
|
NM_001134363.3(RBM20):c.3574-20T>G
|
rs2135147781
|
|
|
NM_001134363.3(RBM20):c.3579T>C (p.Tyr1193=)
|
|
|
|
NM_001134363.3(RBM20):c.3584C>A (p.Ser1195Tyr)
|
rs753102653
|
|
|
NM_001134363.3(RBM20):c.3585C>T (p.Ser1195=)
|
|
|
|
NM_001134363.3(RBM20):c.3603C>T (p.Gly1201=)
|
|
|
|
NM_001134363.3(RBM20):c.3624A>G (p.Ala1208=)
|
|
|
|
NM_001134363.3(RBM20):c.3627T>C (p.Asp1209=)
|
rs2135148067
|
|
|
NM_001134363.3(RBM20):c.364C>A (p.Gln122Lys)
|
rs727504583
|
|
|
NM_001134363.3(RBM20):c.3654C>T (p.Ile1218=)
|
rs1235947843
|
|
|
NM_001134363.3(RBM20):c.365A>T (p.Gln122Leu)
|
|
|
|
NM_001134363.3(RBM20):c.3663C>T (p.Arg1221=)
|
|
|
|
NM_001134363.3(RBM20):c.3666C>T (p.Phe1222=)
|
rs558440936
|
|
|
NM_001134363.3(RBM20):c.3675A>G (p.Lys1225=)
|
rs2135148307
|
|
|
NM_001134363.3(RBM20):c.402C>T (p.Phe134=)
|
|
|
|
NM_001134363.3(RBM20):c.435C>A (p.Gly145=)
|
rs1289290753
|
|
|
NM_001134363.3(RBM20):c.438C>T (p.Pro146=)
|
|
|
|
NM_001134363.3(RBM20):c.453G>C (p.Gly151=)
|
|
|
|
NM_001134363.3(RBM20):c.456T>C (p.Val152=)
|
rs962374472
|
|
|
NM_001134363.3(RBM20):c.48G>C (p.Pro16=)
|
rs2134792583
|
|
|
NM_001134363.3(RBM20):c.507T>A (p.Ile169=)
|
|
|
|
NM_001134363.3(RBM20):c.509C>G (p.Ala170Gly)
|
|
|
|
NM_001134363.3(RBM20):c.519C>T (p.Pro173=)
|
rs1844336418
|
|
|
NM_001134363.3(RBM20):c.522C>G (p.Pro174=)
|
rs890687647
|
|
|
NM_001134363.3(RBM20):c.532C>A (p.Arg178=)
|
rs794729161
|
|
|
NM_001134363.3(RBM20):c.533G>C (p.Arg178Pro)
|
rs561085365
|
|
|
NM_001134363.3(RBM20):c.549C>T (p.Ser183=)
|
|
|
|
NM_001134363.3(RBM20):c.603G>A (p.Gly201=)
|
|
|
|
NM_001134363.3(RBM20):c.606A>G (p.Val202=)
|
|
|
|
NM_001134363.3(RBM20):c.633A>G (p.Ala211=)
|
|
|
|
NM_001134363.3(RBM20):c.636C>T (p.Val212=)
|
|
|
|
NM_001134363.3(RBM20):c.651C>G (p.Gly217=)
|
rs2135042424
|
|
|
NM_001134363.3(RBM20):c.662C>T (p.Pro221Leu)
|
|
|
|
NM_001134363.3(RBM20):c.692A>G (p.Tyr231Cys)
|
|
|
|
NM_001134363.3(RBM20):c.698A>G (p.Lys233Arg)
|
|
|
|
NM_001134363.3(RBM20):c.69C>T (p.Ala23=)
|
|
|
|
NM_001134363.3(RBM20):c.702C>T (p.Ala234=)
|
rs2135042763
|
|
|
NM_001134363.3(RBM20):c.705C>T (p.Ser235=)
|
|
|
|
NM_001134363.3(RBM20):c.707C>G (p.Ser236Cys)
|
rs548382173
|
|
|
NM_001134363.3(RBM20):c.720T>C (p.Tyr240=)
|
rs1844342633
|
|
|
NM_001134363.3(RBM20):c.723C>A (p.Gly241=)
|
|
|
|
NM_001134363.3(RBM20):c.72C>T (p.Cys24=)
|
rs2134792657
|
|
|
NM_001134363.3(RBM20):c.732A>G (p.Thr244=)
|
|
|
|
NM_001134363.3(RBM20):c.747C>T (p.Gly249=)
|
|
|
|
NM_001134363.3(RBM20):c.750C>T (p.Phe250=)
|
|
|
|
NM_001134363.3(RBM20):c.751C>T (p.Leu251=)
|
|
|
|
NM_001134363.3(RBM20):c.75T>C (p.Ser25=)
|
rs2134792666
|
|
|
NM_001134363.3(RBM20):c.785C>G (p.Thr262Ser)
|
rs758718732
|
|
|
NM_001134363.3(RBM20):c.81T>C (p.Pro27=)
|
|
|
|
NM_001134363.3(RBM20):c.825A>G (p.Gln275=)
|
|
|
|
NM_001134363.3(RBM20):c.828T>C (p.Ala276=)
|
rs2135043381
|
|
|
NM_001134363.3(RBM20):c.851G>A (p.Gly284Glu)
|
|
|
|
NM_001134363.3(RBM20):c.855C>T (p.Pro285=)
|
|
|
|
NM_001134363.3(RBM20):c.873T>C (p.His291=)
|
|
|
|
NM_001134363.3(RBM20):c.900G>T (p.Gln300His)
|
|
|
|
NM_001134363.3(RBM20):c.906G>T (p.Gly302=)
|
rs1379882102
|
|
|
NM_001134363.3(RBM20):c.924C>G (p.Val308=)
|
rs772918485
|
|
|
NM_001134363.3(RBM20):c.929C>T (p.Pro310Leu)
|
|
|
|
NM_001134363.3(RBM20):c.933G>A (p.Leu311=)
|
rs761015603
|
|
|
NM_001134363.3(RBM20):c.934C>T (p.Leu312=)
|
|
|
|
NM_001134363.3(RBM20):c.936G>T (p.Leu312=)
|
rs1283162002
|
|
|
NM_001134363.3(RBM20):c.939G>A (p.Gln313=)
|
|
|
|
NM_001134363.3(RBM20):c.964C>A (p.Pro322Thr)
|
|
|
|
NM_001134363.3(RBM20):c.975C>T (p.Phe325=)
|
|
|
|
NM_001134363.3(RBM20):c.978G>C (p.Ser326=)
|
rs930912173
|
|
|
NM_001134363.3(RBM20):c.980G>A (p.Gly327Asp)
|
|
|
|
NM_001134363.3(RBM20):c.99G>A (p.Pro33=)
|
|
|
|
NM_001159699.2(FHL1):c.105T>C (p.Tyr35=)
|
|
|
|
NM_001159699.2(FHL1):c.108G>A (p.Val36=)
|
rs2073842775
|
|
|
NM_001159699.2(FHL1):c.111A>G (p.Gln37=)
|
|
|
|
NM_001159699.2(FHL1):c.120C>A (p.Gly40=)
|
|
|
|
NM_001159699.2(FHL1):c.132C>T (p.Cys44=)
|
|
|
|
NM_001159699.2(FHL1):c.135G>A (p.Leu45=)
|
rs1603270464
|
|
|
NM_001159699.2(FHL1):c.177C>T (p.Cys59=)
|
|
|
|
NM_001159699.2(FHL1):c.183G>A (p.Lys61=)
|
rs780792982
|
|
|
NM_001159699.2(FHL1):c.198C>T (p.Asp66=)
|
|
|
|
NM_001159699.2(FHL1):c.204+17T>C
|
|
|
|
NM_001159699.2(FHL1):c.204+7G>C
|
|
|
|
NM_001159699.2(FHL1):c.205-13G>A
|
|
|
|
NM_001159699.2(FHL1):c.205-14T>C
|
|
|
|
NM_001159699.2(FHL1):c.205-19C>T
|
|
|
|
NM_001159699.2(FHL1):c.222C>T (p.Asn74=)
|
|
|
|
NM_001159699.2(FHL1):c.225C>T (p.Arg75=)
|
|
|
|
NM_001159699.2(FHL1):c.240C>T (p.Thr80=)
|
|
|
|
NM_001159699.2(FHL1):c.246C>T (p.Phe82=)
|
|
|
|
NM_001159699.2(FHL1):c.261C>T (p.Cys87=)
|
|
|
|
NM_001159699.2(FHL1):c.297G>A (p.Lys99=)
|
|
|
|
NM_001159699.2(FHL1):c.309C>A (p.Ile103=)
|
rs372049507
|
|
|
NM_001159699.2(FHL1):c.379+10C>T
|
rs2148373876
|
|
|
NM_001159699.2(FHL1):c.379+11C>T
|
|
|
|
NM_001159699.2(FHL1):c.379+18C>T
|
rs2148373890
|
|
|
NM_001159699.2(FHL1):c.379+19C>A
|
|
|
|
NM_001159699.2(FHL1):c.379+19C>T
|
|
|
|
NM_001159699.2(FHL1):c.379+7C>T
|
|
|
|
NM_001159699.2(FHL1):c.380-10C>G
|
|
|
|
NM_001159699.2(FHL1):c.380-14G>A
|
|
|
|
NM_001159699.2(FHL1):c.380-16T>G
|
|
|
|
NM_001159699.2(FHL1):c.380-6C>T
|
|
|
|
NM_001159699.2(FHL1):c.380-9C>T
|
rs766762163
|
|
|
NM_001159699.2(FHL1):c.390C>T (p.Asn130=)
|
|
|
|
NM_001159699.2(FHL1):c.393G>A (p.Val131=)
|
rs2148375546
|
|
|
NM_001159699.2(FHL1):c.429C>T (p.Phe143=)
|
|
|
|
NM_001159699.2(FHL1):c.432C>G (p.Thr144=)
|
rs1603271583
|
|
|
NM_001159699.2(FHL1):c.432C>T (p.Thr144=)
|
rs1603271583
|
|
|
NM_001159699.2(FHL1):c.456C>A (p.Ile152=)
|
rs747594885
|
|
|
NM_001159699.2(FHL1):c.471C>T (p.Phe157=)
|
rs2148376029
|
|
|
NM_001159699.2(FHL1):c.510T>C (p.His170=)
|
rs1603271708
|
|
|
NM_001159699.2(FHL1):c.525C>T (p.Ala175=)
|
|
|
|
NM_001159699.2(FHL1):c.549+20C>T
|
|
|
|
NM_001159699.2(FHL1):c.54G>A (p.Ala18=)
|
|
|
|
NM_001159699.2(FHL1):c.550-13C>T
|
|
|
|
NM_001159699.2(FHL1):c.550-15C>T
|
rs764137409
|
|
|
NM_001159699.2(FHL1):c.550-16A>G
|
|
|
|
NM_001159699.2(FHL1):c.550-18C>G
|
|
|
|
NM_001159699.2(FHL1):c.552C>T (p.Ala184=)
|
|
|
|
NM_001159699.2(FHL1):c.558A>G (p.Thr186=)
|
rs2148378187
|
|
|
NM_001159699.2(FHL1):c.585G>A (p.Gln195=)
|
rs2148378283
|
|
|
NM_001159699.2(FHL1):c.588C>A (p.Pro196=)
|
|
|
|
NM_001159699.2(FHL1):c.597C>G (p.Ala199=)
|
|
|
|
NM_001159699.2(FHL1):c.600T>C (p.Asp200=)
|
|
|
|
NM_001159699.2(FHL1):c.63T>C (p.Phe21=)
|
rs2073841797
|
|
|
NM_001159699.2(FHL1):c.669T>C (p.Tyr223=)
|
rs1603272258
|
|
|
NM_001159699.2(FHL1):c.726C>T (p.Asn242=)
|
rs781537817
|
|
|
NM_001159699.2(FHL1):c.729C>A (p.Pro243=)
|
rs1060504733
|
|
|
NM_001159699.2(FHL1):c.736+9A>T
|
|
|
|
NM_001159699.2(FHL1):c.737-10T>G
|
|
|
|
NM_001159699.2(FHL1):c.737-11T>C
|
|
|
|
NM_001159699.2(FHL1):c.737-13T>G
|
|
|
|
NM_001159699.2(FHL1):c.737-13_737-9del
|
rs374867802
|
|
|
NM_001159699.2(FHL1):c.737-14_737-13insCTTT
|
rs767661713
|
|
|
NM_001159699.2(FHL1):c.737-16T>C
|
|
|
|
NM_001159699.2(FHL1):c.737-18_737-15del
|
rs2148383206
|
|
|
NM_001159699.2(FHL1):c.737-22_737-19del
|
|
|
|
NM_001159699.2(FHL1):c.737-6C>T
|
|
|
|
NM_001159699.2(FHL1):c.737-7C>T
|
rs774150299
|
|
|
NM_001159699.2(FHL1):c.737-8C>A
|
rs2076705
|
|
|
NM_001159699.2(FHL1):c.737-9_737-8delinsCT
|
rs1603273550
|
|
|
NM_001159699.2(FHL1):c.738G>T (p.Gly246=)
|
|
|
|
NM_001159699.2(FHL1):c.750C>T (p.Gly250=)
|
|
|
|
NM_001159699.2(FHL1):c.753C>T (p.Ser251=)
|
rs2148383466
|
|
|
NM_001159699.2(FHL1):c.75C>T (p.Tyr25=)
|
rs2148371522
|
|
|
NM_001159699.2(FHL1):c.780C>A (p.Ser260=)
|
|
|
|
NM_001159699.2(FHL1):c.780C>T (p.Ser260=)
|
|
|
|
NM_001159699.2(FHL1):c.816C>A (p.Ser272=)
|
rs758552293
|
|
|
NM_001159699.2(FHL1):c.819G>C (p.Val273=)
|
rs2148383774
|
|
|
NM_001159699.2(FHL1):c.823C>T (p.Leu275=)
|
|
|
|
NM_001159699.2(FHL1):c.825G>C (p.Leu275=)
|
|
|
|
NM_001159699.2(FHL1):c.837C>A (p.Arg279=)
|
|
|
|
NM_001159699.2(FHL1):c.852G>A (p.Gln284=)
|
rs774024150
|
|
|
NM_001159699.2(FHL1):c.855G>A (p.Glu285=)
|
rs1556639756
|
|
|
NM_001159699.2(FHL1):c.870C>A (p.Pro290=)
|
|
|
|
NM_001159699.2(FHL1):c.876T>C (p.Cys292=)
|
|
|
|
NM_001159699.2(FHL1):c.87C>T (p.Pro29=)
|
|
|
|
NM_001159699.2(FHL1):c.888G>A (p.Leu296=)
|
|
|
|
NM_001159702.3(FHL1):c.718C>T (p.Pro240Ser)
|
rs1603272887
|
|
|
NM_001161403.3(LIMS2):c.1020T>C (p.Ser340=)
|
|
|
|
NM_001161403.3(LIMS2):c.11+1267C>T
|
|
|
|
NM_001161403.3(LIMS2):c.11+12C>T
|
|
|
|
NM_001161403.3(LIMS2):c.11+1345G>A
|
|
|
|
NM_001161403.3(LIMS2):c.11+1349C>T
|
|
|
|
NM_001161403.3(LIMS2):c.11+16C>A
|
|
|
|
NM_001161403.3(LIMS2):c.11+16C>T
|
|
|
|
NM_001161403.3(LIMS2):c.12-5C>T
|
|
|
|
NM_001161403.3(LIMS2):c.159G>C (p.Gly53=)
|
|
|
|
NM_001161403.3(LIMS2):c.171+17G>A
|
|
|
|
NM_001161403.3(LIMS2):c.171+9_171+13del
|
|
|
|
NM_001161403.3(LIMS2):c.172-13G>T
|
|
|
|
NM_001161403.3(LIMS2):c.172-5T>G
|
|
|
|
NM_001161403.3(LIMS2):c.172-9C>T
|
|
|
|
NM_001161403.3(LIMS2):c.222G>A (p.Pro74=)
|
|
|
|
NM_001161403.3(LIMS2):c.238+8C>T
|
|
|
|
NM_001161403.3(LIMS2):c.239-10C>T
|
|
|
|
NM_001161403.3(LIMS2):c.239-14C>T
|
|
|
|
NM_001161403.3(LIMS2):c.239-18G>T
|
|
|
|
NM_001161403.3(LIMS2):c.243G>A (p.Glu81=)
|
|
|
|
NM_001161403.3(LIMS2):c.249C>T (p.Ile83=)
|
rs2105291996
|
|
|
NM_001161403.3(LIMS2):c.258C>T (p.Arg86=)
|
|
|
|
NM_001161403.3(LIMS2):c.359+12G>A
|
|
|
|
NM_001161403.3(LIMS2):c.360-12C>T
|
|
|
|
NM_001161403.3(LIMS2):c.360-4G>T
|
rs112254310
|
|
|
NM_001161403.3(LIMS2):c.360-5C>T
|
|
|
|
NM_001161403.3(LIMS2):c.420C>T (p.Cys140=)
|
rs2105208940
|
|
|
NM_001161403.3(LIMS2):c.444C>T (p.Asp148=)
|
|
|
|
NM_001161403.3(LIMS2):c.465G>A (p.Arg155=)
|
rs563179688
|
|
|
NM_001161403.3(LIMS2):c.495C>T (p.Asn165=)
|
|
|
|
NM_001161403.3(LIMS2):c.509+12G>A
|
|
|
|
NM_001161403.3(LIMS2):c.510-11C>T
|
|
|
|
NM_001161403.3(LIMS2):c.525C>T (p.Ala175=)
|
rs532651765
|
|
|
NM_001161403.3(LIMS2):c.528G>A (p.Glu176=)
|
|
|
|
NM_001161403.3(LIMS2):c.534C>A (p.Arg178=)
|
|
|
|
NM_001161403.3(LIMS2):c.534C>T (p.Arg178=)
|
|
|
|
NM_001161403.3(LIMS2):c.639G>A (p.Leu213=)
|
|
|
|
NM_001161403.3(LIMS2):c.661-17G>A
|
|
|
|
NM_001161403.3(LIMS2):c.661-19C>G
|
|
|
|
NM_001161403.3(LIMS2):c.661-4G>C
|
|
|
|
NM_001161403.3(LIMS2):c.661-7C>T
|
|
|
|
NM_001161403.3(LIMS2):c.687G>A (p.Lys229=)
|
|
|
|
NM_001161403.3(LIMS2):c.735C>T (p.Cys245=)
|
|
|
|
NM_001161403.3(LIMS2):c.754-10C>G
|
rs377539811
|
|
|
NM_001161403.3(LIMS2):c.754-15C>A
|
|
|
|
NM_001161403.3(LIMS2):c.754-17G>A
|
|
|
|
NM_001161403.3(LIMS2):c.762G>A (p.Gly254=)
|
|
|
|
NM_001161403.3(LIMS2):c.802+13G>A
|
|
|
|
NM_001161403.3(LIMS2):c.802+18C>T
|
|
|
|
NM_001161403.3(LIMS2):c.802+7C>G
|
|
|
|
NM_001161403.3(LIMS2):c.803-13G>A
|
|
|
|
NM_001161403.3(LIMS2):c.810G>A (p.Ser270=)
|
rs752693744
|
|
|
NM_001161403.3(LIMS2):c.878+17G>A
|
|
|
|
NM_001161403.3(LIMS2):c.879-8C>T
|
rs760227021
|
|
|
NM_001161403.3(LIMS2):c.900C>T (p.Asp300=)
|
rs1553460868
|
|
|
NM_001161403.3(LIMS2):c.909C>T (p.Pro303=)
|
rs374378217
|
|
|
NM_001161403.3(LIMS2):c.927C>T (p.Tyr309=)
|
|
|
|
NM_001161403.3(LIMS2):c.946C>T (p.Leu316=)
|
|
|
|
NM_001161403.3(LIMS2):c.981C>A (p.Thr327=)
|
|
|
|
NM_001232.4(CASQ2):c.1011A>G (p.Thr337=)
|
|
|
|
NM_001232.4(CASQ2):c.1014+10C>T
|
|
|
|
NM_001232.4(CASQ2):c.1014+11C>T
|
|
|
|
NM_001232.4(CASQ2):c.1014+13T>C
|
|
|
|
NM_001232.4(CASQ2):c.1014+14G>A
|
|
|
|
NM_001232.4(CASQ2):c.1014+16G>A
|
|
|
|
NM_001232.4(CASQ2):c.1014+20G>A
|
|
|
|
NM_001232.4(CASQ2):c.1014+20G>T
|
rs369540921
|
|
|
NM_001232.4(CASQ2):c.1015-16T>C
|
|
|
|
NM_001232.4(CASQ2):c.1015-20C>A
|
|
|
|
NM_001232.4(CASQ2):c.1015-6C>T
|
|
|
|
NM_001232.4(CASQ2):c.1041A>T (p.Pro347=)
|
|
|
|
NM_001232.4(CASQ2):c.1059A>C (p.Pro353=)
|
|
|
|
NM_001232.4(CASQ2):c.1059A>T (p.Pro353=)
|
rs754889548
|
|
|
NM_001232.4(CASQ2):c.1072C>T (p.Leu358=)
|
|
|
|
NM_001232.4(CASQ2):c.1131A>G (p.Glu377=)
|
|
|
|
NM_001232.4(CASQ2):c.1140T>C (p.Asp380=)
|
|
|
|
NM_001232.4(CASQ2):c.1146T>C (p.Asp382=)
|
|
|
|
NM_001232.4(CASQ2):c.114C>A (p.Ser38=)
|
rs571353035
|
|
|
NM_001232.4(CASQ2):c.1167T>C (p.Asp389=)
|
rs1557783672
|
|
|
NM_001232.4(CASQ2):c.1173T>C (p.Asp391=)
|
|
|
|
NM_001232.4(CASQ2):c.1176C>T (p.Asp392=)
|
|
|
|
NM_001232.4(CASQ2):c.1191T>C (p.Asp397=)
|
|
|
|
NM_001232.4(CASQ2):c.1197A>G (p.Glu399=)
|
rs1251308717
|
|
|
NM_001232.4(CASQ2):c.12T>C (p.Thr4=)
|
|
|
|
NM_001232.4(CASQ2):c.132G>A (p.Gln44=)
|
|
|
|
NM_001232.4(CASQ2):c.150C>T (p.Asp50=)
|
rs1570867364
|
|
|
NM_001232.4(CASQ2):c.15C>T (p.His5=)
|
|
|
|
NM_001232.4(CASQ2):c.165C>T (p.Tyr55=)
|
|
|
|
NM_001232.4(CASQ2):c.174G>A (p.Glu58=)
|
|
|
|
NM_001232.4(CASQ2):c.177G>T (p.Pro59=)
|
rs371260149
|
|
|
NM_001232.4(CASQ2):c.180G>C (p.Val60=)
|
|
|
|
NM_001232.4(CASQ2):c.207G>A (p.Gln69=)
|
|
|
|
NM_001232.4(CASQ2):c.210C>T (p.Phe70=)
|
rs774492523
|
|
|
NM_001232.4(CASQ2):c.231T>C (p.Leu77=)
|
rs2101130383
|
|
|
NM_001232.4(CASQ2):c.234+13A>T
|
|
|
|
NM_001232.4(CASQ2):c.234+17C>T
|
|
|
|
NM_001232.4(CASQ2):c.234+18A>G
|
|
|
|
NM_001232.4(CASQ2):c.234+8A>C
|
|
|
|
NM_001232.4(CASQ2):c.234+9C>T
|
|
|
|
NM_001232.4(CASQ2):c.235-10del
|
|
|
|
NM_001232.4(CASQ2):c.235-15C>T
|
|
|
|
NM_001232.4(CASQ2):c.235-17del
|
|
|
|
NM_001232.4(CASQ2):c.235-8T>C
|
rs2101101082
|
|
|
NM_001232.4(CASQ2):c.240G>A (p.Val80=)
|
rs2101101070
|
|
|
NM_001232.4(CASQ2):c.240G>T (p.Val80=)
|
|
|
|
NM_001232.4(CASQ2):c.249C>T (p.Val83=)
|
|
|
|
NM_001232.4(CASQ2):c.294A>G (p.Lys98=)
|
|
|
|
NM_001232.4(CASQ2):c.303G>A (p.Lys101=)
|
|
|
|
NM_001232.4(CASQ2):c.306T>G (p.Leu102=)
|
|
|
|
NM_001232.4(CASQ2):c.319+10A>T
|
|
|
|
NM_001232.4(CASQ2):c.319+11T>C
|
|
|
|
NM_001232.4(CASQ2):c.319+20T>A
|
rs751551798
|
|
|
NM_001232.4(CASQ2):c.320-11G>T
|
|
|
|
NM_001232.4(CASQ2):c.320-15C>G
|
|
|
|
NM_001232.4(CASQ2):c.320-7C>T
|
|
|
|
NM_001232.4(CASQ2):c.33T>C (p.Ile11=)
|
|
|
|
NM_001232.4(CASQ2):c.342G>A (p.Leu114=)
|
rs1399153364
|
|
|
NM_001232.4(CASQ2):c.348T>C (p.Ile116=)
|
|
|
|
NM_001232.4(CASQ2):c.357T>C (p.Gly119=)
|
|
|
|
NM_001232.4(CASQ2):c.366A>G (p.Thr122=)
|
|
|
|
NM_001232.4(CASQ2):c.420+14C>T
|
|
|
|
NM_001232.4(CASQ2):c.420+16C>T
|
|
|
|
NM_001232.4(CASQ2):c.420+17A>G
|
|
|
|
NM_001232.4(CASQ2):c.420+18G>C
|
|
|
|
NM_001232.4(CASQ2):c.420+20G>A
|
|
|
|
NM_001232.4(CASQ2):c.420+8_420+9insATAAATGC
|
|
|
|
NM_001232.4(CASQ2):c.423A>G (p.Leu141=)
|
rs770571012
|
|
|
NM_001232.4(CASQ2):c.426T>C (p.Ile142=)
|
|
|
|
NM_001232.4(CASQ2):c.432C>T (p.Asp144=)
|
|
|
|
NM_001232.4(CASQ2):c.435A>G (p.Pro145=)
|
rs1570831633
|
|
|
NM_001232.4(CASQ2):c.438G>A (p.Val146=)
|
|
|
|
NM_001232.4(CASQ2):c.444C>T (p.Ile148=)
|
|
|
|
NM_001232.4(CASQ2):c.48T>C (p.Ser16=)
|
rs2101130724
|
|
|
NM_001232.4(CASQ2):c.519T>C (p.Ser173=)
|
|
|
|
NM_001232.4(CASQ2):c.522G>A (p.Glu174=)
|
rs2101091922
|
|
|
NM_001232.4(CASQ2):c.532+13C>T
|
rs1442512343
|
|
|
NM_001232.4(CASQ2):c.532+14C>A
|
|
|
|
NM_001232.4(CASQ2):c.532+17C>T
|
|
|
|
NM_001232.4(CASQ2):c.532+7T>G
|
|
|
|
NM_001232.4(CASQ2):c.532+8G>T
|
|
|
|
NM_001232.4(CASQ2):c.533-13T>C
|
|
|
|
NM_001232.4(CASQ2):c.533-15del
|
|
|
|
NM_001232.4(CASQ2):c.533-19T>C
|
|
|
|
NM_001232.4(CASQ2):c.533-5C>T
|
|
|
|
NM_001232.4(CASQ2):c.543T>G (p.Ala181=)
|
rs912740566
|
|
|
NM_001232.4(CASQ2):c.564C>T (p.His188=)
|
|
|
|
NM_001232.4(CASQ2):c.603A>G (p.Lys201=)
|
rs1557794917
|
|
|
NM_001232.4(CASQ2):c.606+16A>G
|
|
|
|
NM_001232.4(CASQ2):c.606+18C>T
|
|
|
|
NM_001232.4(CASQ2):c.606+7A>T
|
rs1060504495
|
|
|
NM_001232.4(CASQ2):c.607-16T>A
|
|
|
|
NM_001232.4(CASQ2):c.607-17A>C
|
|
|
|
NM_001232.4(CASQ2):c.607-18T>G
|
|
|
|
NM_001232.4(CASQ2):c.607-5T>C
|
|
|
|
NM_001232.4(CASQ2):c.607-6T>C
|
|
|
|
NM_001232.4(CASQ2):c.607-7G>T
|
|
|
|
NM_001232.4(CASQ2):c.607-8G>T
|
|
|
|
NM_001232.4(CASQ2):c.607-9T>C
|
|
|
|
NM_001232.4(CASQ2):c.625T>C (p.Leu209=)
|
rs2101079232
|
|
|
NM_001232.4(CASQ2):c.630G>A (p.Lys210=)
|
|
|
|
NM_001232.4(CASQ2):c.636T>C (p.Asn212=)
|
|
|
|
NM_001232.4(CASQ2):c.657A>G (p.Pro219=)
|
|
|
|
NM_001232.4(CASQ2):c.669G>A (p.Glu223=)
|
|
|
|
NM_001232.4(CASQ2):c.66G>A (p.Gly22=)
|
|
|
|
NM_001232.4(CASQ2):c.675T>A (p.Ile225=)
|
|
|
|
NM_001232.4(CASQ2):c.684C>T (p.Pro228=)
|
|
|
|
NM_001232.4(CASQ2):c.693T>C (p.Pro231=)
|
|
|
|
NM_001232.4(CASQ2):c.737+12G>A
|
|
|
|
NM_001232.4(CASQ2):c.737+13G>A
|
|
|
|
NM_001232.4(CASQ2):c.737+13G>T
|
|
|
|
NM_001232.4(CASQ2):c.737+15A>G
|
|
|
|
NM_001232.4(CASQ2):c.737+16T>C
|
|
|
|
NM_001232.4(CASQ2):c.737+17G>A
|
rs1196679914
|
|
|
NM_001232.4(CASQ2):c.737+17G>T
|
|
|
|
NM_001232.4(CASQ2):c.737+8A>T
|
|
|
|
NM_001232.4(CASQ2):c.737+9G>T
|
|
|
|
NM_001232.4(CASQ2):c.738-15_738-5del
|
|
|
|
NM_001232.4(CASQ2):c.738-16T>G
|
|
|
|
NM_001232.4(CASQ2):c.738-16_738-5del
|
rs56889721
|
|
|
NM_001232.4(CASQ2):c.738-17_738-5del
|
rs56889721
|
|
|
NM_001232.4(CASQ2):c.738-19_738-5del
|
|
|
|
NM_001232.4(CASQ2):c.738-20T>C
|
|
|
|
NM_001232.4(CASQ2):c.738-4C>A
|
|
|
|
NM_001232.4(CASQ2):c.738-6_738-4dup
|
|
|
|
NM_001232.4(CASQ2):c.738-8T>C
|
|
|
|
NM_001232.4(CASQ2):c.741C>T (p.Pro247=)
|
|
|
|
NM_001232.4(CASQ2):c.753C>G (p.Arg251=)
|
|
|
|
NM_001232.4(CASQ2):c.753C>T (p.Arg251=)
|
|
|
|
NM_001232.4(CASQ2):c.762A>C (p.Pro254=)
|
|
|
|
NM_001232.4(CASQ2):c.783+13C>G
|
|
|
|
NM_001232.4(CASQ2):c.783+17del
|
|
|
|
NM_001232.4(CASQ2):c.783+19C>G
|
|
|
|
NM_001232.4(CASQ2):c.784-11T>C
|
|
|
|
NM_001232.4(CASQ2):c.784-14_784-12dup
|
|
|
|
NM_001232.4(CASQ2):c.784-15A>G
|
|
|
|
NM_001232.4(CASQ2):c.784-18del
|
|
|
|
NM_001232.4(CASQ2):c.784-5T>C
|
rs2101068877
|
|
|
NM_001232.4(CASQ2):c.784-7C>T
|
rs2101068879
|
|
|
NM_001232.4(CASQ2):c.784-9C>G
|
rs2101068882
|
|
|
NM_001232.4(CASQ2):c.825G>A (p.Glu275=)
|
|
|
|
NM_001232.4(CASQ2):c.828G>A (p.Lys276=)
|
|
|
|
NM_001232.4(CASQ2):c.838+10C>A
|
|
|
|
NM_001232.4(CASQ2):c.838+16C>A
|
|
|
|
NM_001232.4(CASQ2):c.838+18T>A
|
|
|
|
NM_001232.4(CASQ2):c.838+9C>A
|
|
|
|
NM_001232.4(CASQ2):c.839-10C>A
|
rs1285000814
|
|
|
NM_001232.4(CASQ2):c.839-19C>G
|
|
|
|
NM_001232.4(CASQ2):c.839-8T>C
|
|
|
|
NM_001232.4(CASQ2):c.843C>G (p.Gly281=)
|
|
|
|
NM_001232.4(CASQ2):c.861C>T (p.Ile287=)
|
rs143718767
|
|
|
NM_001232.4(CASQ2):c.877C>A (p.Arg293=)
|
|
|
|
NM_001232.4(CASQ2):c.888T>C (p.Thr296=)
|
rs769250369
|
|
|
NM_001232.4(CASQ2):c.891C>T (p.Asp297=)
|
|
|
|
NM_001232.4(CASQ2):c.894C>T (p.Asn298=)
|
|
|
|
NM_001232.4(CASQ2):c.900T>C (p.Asp300=)
|
|
|
|
NM_001232.4(CASQ2):c.901C>T (p.Leu301=)
|
|
|
|
NM_001232.4(CASQ2):c.909C>T (p.Ile303=)
|
|
|
|
NM_001232.4(CASQ2):c.918C>T (p.Ile306=)
|
|
|
|
NM_001232.4(CASQ2):c.921C>T (p.Asp307=)
|
rs773111521
|
|
|
NM_001232.4(CASQ2):c.939+13A>G
|
|
|
|
NM_001232.4(CASQ2):c.939+19C>A
|
rs370092811
|
|
|
NM_001232.4(CASQ2):c.939+19C>T
|
|
|
|
NM_001232.4(CASQ2):c.939+20G>A
|
rs1431164488
|
|
|
NM_001232.4(CASQ2):c.939+20G>C
|
|
|
|
NM_001232.4(CASQ2):c.939+8G>T
|
|
|
|
NM_001232.4(CASQ2):c.939+9C>T
|
rs2101055914
|
|
|
NM_001232.4(CASQ2):c.940-10G>A
|
|
|
|
NM_001232.4(CASQ2):c.940-12T>C
|
|
|
|
NM_001232.4(CASQ2):c.940-12T>G
|
|
|
|
NM_001232.4(CASQ2):c.940-18A>C
|
|
|
|
NM_001232.4(CASQ2):c.940-19T>C
|
|
|
|
NM_001232.4(CASQ2):c.940-7G>T
|
|
|
|
NM_001232.4(CASQ2):c.942C>G (p.Leu314=)
|
|
|
|
NM_001232.4(CASQ2):c.942C>T (p.Leu314=)
|
|
|
|
NM_001232.4(CASQ2):c.960G>A (p.Lys320=)
|
|
|
|
NM_001232.4(CASQ2):c.966C>T (p.Phe322=)
|
|
|
|
NM_001232.4(CASQ2):c.972T>C (p.Ile324=)
|
|
|
|
NM_001232.4(CASQ2):c.97C>A (p.Arg33=)
|
|
|
|
NM_001232.4(CASQ2):c.987A>G (p.Pro329=)
|
|
|
|
NM_001232.4(CASQ2):c.987A>T (p.Pro329=)
|
|
|
|
NM_001232.4(CASQ2):c.996G>A (p.Gly332=)
|
|
|
|
NM_001232.4(CASQ2):c.999G>A (p.Val333=)
|
|
|
|
NM_001256850.1(TTN):c.92873-10T>C
|
rs1553512260
|
|
|
NM_001267550.2(TTN):c.100021T>C (p.Leu33341=)
|
rs2154137977
|
|
|
NM_001267550.2(TTN):c.100044G>A (p.Val33348=)
|
rs56080118
|
|
|
NM_001267550.2(TTN):c.100059T>C (p.Ile33353=)
|
|
|
|
NM_001267550.2(TTN):c.100065C>T (p.Asn33355=)
|
|
|
|
NM_001267550.2(TTN):c.100122C>A (p.Ile33374=)
|
rs779537238
|
|
|
NM_001267550.2(TTN):c.100131T>G (p.Pro33377=)
|
rs1240151281
|
|
|
NM_001267550.2(TTN):c.100171+16T>C
|
|
|
|
NM_001267550.2(TTN):c.100171+16_100171+17insA
|
rs2154137874
|
|
|
NM_001267550.2(TTN):c.100171+7A>G
|
rs2154137886
|
|
|
NM_001267550.2(TTN):c.100171+9_100171+11del
|
|
|
|
NM_001267550.2(TTN):c.100172-10del
|
rs397517782
|
|
|
NM_001267550.2(TTN):c.100172-18C>G
|
|
|
|
NM_001267550.2(TTN):c.100172-9_100172-7del
|
|
|
|
NM_001267550.2(TTN):c.100185T>C (p.Ala33395=)
|
rs2154137549
|
|
|
NM_001267550.2(TTN):c.100200T>G (p.Thr33400=)
|
|
|
|
NM_001267550.2(TTN):c.100209T>C (p.Ala33403=)
|
|
|
|
NM_001267550.2(TTN):c.100248T>C (p.Pro33416=)
|
|
|
|
NM_001267550.2(TTN):c.100287T>C (p.Leu33429=)
|
|
|
|
NM_001267550.2(TTN):c.100299G>A (p.Glu33433=)
|
rs879015914
|
|
|
NM_001267550.2(TTN):c.100335A>G (p.Glu33445=)
|
rs770586154
|
|
|
NM_001267550.2(TTN):c.100341T>C (p.Ile33447=)
|
|
|
|
NM_001267550.2(TTN):c.100362G>A (p.Val33454=)
|
|
|
|
NM_001267550.2(TTN):c.100374T>C (p.Ile33458=)
|
|
|
|
NM_001267550.2(TTN):c.100380T>C (p.Gly33460=)
|
|
|
|
NM_001267550.2(TTN):c.100416A>G (p.Leu33472=)
|
rs878875694
|
|
|
NM_001267550.2(TTN):c.10044C>T (p.Ile3348=)
|
rs1553983924
|
|
|
NM_001267550.2(TTN):c.100455C>T (p.Ile33485=)
|
rs2154137332
|
|
|
NM_001267550.2(TTN):c.100458T>C (p.Thr33486=)
|
|
|
|
NM_001267550.2(TTN):c.100470T>C (p.Asp33490=)
|
rs2154137324
|
|
|
NM_001267550.2(TTN):c.100527T>C (p.Tyr33509=)
|
rs746029690
|
|
|
NM_001267550.2(TTN):c.100530G>A (p.Gln33510=)
|
|
|
|
NM_001267550.2(TTN):c.100533C>T (p.Ser33511=)
|
|
|
|
NM_001267550.2(TTN):c.100590C>T (p.Tyr33530=)
|
|
|
|
NM_001267550.2(TTN):c.100591A>C (p.Arg33531=)
|
rs1691408114
|
|
|
NM_001267550.2(TTN):c.100608C>T (p.Ile33536=)
|
|
|
|
NM_001267550.2(TTN):c.100611T>A (p.Ile33537=)
|
|
|
|
NM_001267550.2(TTN):c.100621T>C (p.Leu33541=)
|
|
|
|
NM_001267550.2(TTN):c.10065C>G (p.Val3355=)
|
rs766884321
|
|
|
NM_001267550.2(TTN):c.10065C>T (p.Val3355=)
|
rs766884321
|
|
|
NM_001267550.2(TTN):c.100710C>T (p.Val33570=)
|
|
|
|
NM_001267550.2(TTN):c.100728G>A (p.Gly33576=)
|
rs2154137144
|
|
|
NM_001267550.2(TTN):c.100765+15_100765+18del
|
|
|
|
NM_001267550.2(TTN):c.100765+19T>C
|
|
|
|
NM_001267550.2(TTN):c.100765+5AAAT[2]
|
|
|
|
NM_001267550.2(TTN):c.100766-10_100766-9insTC
|
rs779410830
|
|
|
NM_001267550.2(TTN):c.100766-11_100766-10delinsCC
|
rs1060503962
|
|
|
NM_001267550.2(TTN):c.100766-5_100766-4del
|
rs2154136951
|
|
|
NM_001267550.2(TTN):c.100872T>C (p.Asp33624=)
|
|
|
|
NM_001267550.2(TTN):c.100920C>A (p.Gly33640=)
|
|
|
|
NM_001267550.2(TTN):c.100926C>T (p.Tyr33642=)
|
|
|
|
NM_001267550.2(TTN):c.100941A>G (p.Thr33647=)
|
|
|
|
NM_001267550.2(TTN):c.100953A>G (p.Thr33651=)
|
|
|
|
NM_001267550.2(TTN):c.100953A>T (p.Thr33651=)
|
rs1382391114
|
|
|
NM_001267550.2(TTN):c.100962T>A (p.Val33654=)
|
rs1248985052
|
|
|
NM_001267550.2(TTN):c.100971T>C (p.Asn33657=)
|
|
|
|
NM_001267550.2(TTN):c.100980G>A (p.Glu33660=)
|
rs727503536
|
|
|
NM_001267550.2(TTN):c.100982G>A (p.Arg33661Lys)
|
rs201857158
|
|
|
NM_001267550.2(TTN):c.101016A>G (p.Lys33672=)
|
rs1575296525
|
|
|
NM_001267550.2(TTN):c.101040G>A (p.Lys33680=)
|
|
|
|
NM_001267550.2(TTN):c.101052G>T (p.Leu33684=)
|
|
|
|
NM_001267550.2(TTN):c.101076A>G (p.Pro33692=)
|
|
|
|
NM_001267550.2(TTN):c.101100T>C (p.Asp33700=)
|
|
|
|
NM_001267550.2(TTN):c.101103C>G (p.Val33701=)
|
|
|
|
NM_001267550.2(TTN):c.101127A>G (p.Thr33709=)
|
rs565614320
|
|
|
NM_001267550.2(TTN):c.10114+11G>A
|
|
|
|
NM_001267550.2(TTN):c.10114+15A>G
|
|
|
|
NM_001267550.2(TTN):c.10114+19G>T
|
rs781529874
|
|
|
NM_001267550.2(TTN):c.101142C>A (p.Ala33714=)
|
|
|
|
NM_001267550.2(TTN):c.101148T>C (p.Asp33716=)
|
|
|
|
NM_001267550.2(TTN):c.10115-15T>A
|
|
|
|
NM_001267550.2(TTN):c.10115-16T>G
|
rs2154336897
|
|
|
NM_001267550.2(TTN):c.10115-20T>A
|
|
|
|
NM_001267550.2(TTN):c.10117C>T (p.Leu3373=)
|
rs1182847537
|
|
|
NM_001267550.2(TTN):c.101199A>C (p.Ala33733=)
|
rs1321908456
|
|
|
NM_001267550.2(TTN):c.10122A>G (p.Lys3374=)
|
|
|
|
NM_001267550.2(TTN):c.10125G>A (p.Val3375=)
|
|
|
|
NM_001267550.2(TTN):c.101268A>C (p.Thr33756=)
|
rs1690944440
|
|
|
NM_001267550.2(TTN):c.101286A>C (p.Val33762=)
|
rs2154136586
|
|
|
NM_001267550.2(TTN):c.101307T>C (p.Gly33769=)
|
|
|
|
NM_001267550.2(TTN):c.101346C>A (p.Thr33782=)
|
|
|
|
NM_001267550.2(TTN):c.10134C>T (p.Tyr3378=)
|
rs2154336870
|
|
|
NM_001267550.2(TTN):c.101385G>A (p.Glu33795=)
|
|
|
|
NM_001267550.2(TTN):c.101397C>G (p.Thr33799=)
|
|
|
|
NM_001267550.2(TTN):c.101415T>G (p.Thr33805=)
|
rs763434134
|
|
|
NM_001267550.2(TTN):c.101427C>T (p.His33809=)
|
|
|
|
NM_001267550.2(TTN):c.10143C>T (p.Asp3381=)
|
rs2154336866
|
|
|
NM_001267550.2(TTN):c.101448T>C (p.Tyr33816=)
|
|
|
|
NM_001267550.2(TTN):c.1014T>C (p.Gly338=)
|
rs1309092386
|
|
|
NM_001267550.2(TTN):c.101532A>G (p.Thr33844=)
|
rs776839796
|
|
|
NM_001267550.2(TTN):c.101562G>C (p.Gly33854=)
|
|
|
|
NM_001267550.2(TTN):c.101580A>G (p.Val33860=)
|
rs1060503929
|
|
|
NM_001267550.2(TTN):c.10158A>G (p.Pro3386=)
|
|
|
|
NM_001267550.2(TTN):c.101599C>T (p.Leu33867=)
|
|
|
|
NM_001267550.2(TTN):c.101601G>A (p.Leu33867=)
|
rs2154136379
|
|
|
NM_001267550.2(TTN):c.101613G>A (p.Arg33871=)
|
rs797046068
|
|
|
NM_001267550.2(TTN):c.101616T>C (p.His33872=)
|
rs1275685669
|
|
|
NM_001267550.2(TTN):c.10161T>G (p.Ser3387=)
|
rs930506981
|
|
|
NM_001267550.2(TTN):c.101628A>G (p.Leu33876=)
|
rs2154136364
|
|
|
NM_001267550.2(TTN):c.101679G>A (p.Glu33893=)
|
rs764487443
|
|
|
NM_001267550.2(TTN):c.101706G>A (p.Glu33902=)
|
|
|
|
NM_001267550.2(TTN):c.101709C>T (p.Arg33903=)
|
rs2154136283
|
|
|
NM_001267550.2(TTN):c.101730A>G (p.Glu33910=)
|
rs2154136273
|
|
|
NM_001267550.2(TTN):c.101757T>C (p.Tyr33919=)
|
|
|
|
NM_001267550.2(TTN):c.101763C>T (p.His33921=)
|
|
|
|
NM_001267550.2(TTN):c.10179T>G (p.Thr3393=)
|
rs2154336851
|
|
|
NM_001267550.2(TTN):c.101817C>T (p.Asp33939=)
|
rs2154136212
|
|
|
NM_001267550.2(TTN):c.101820T>C (p.Ile33940=)
|
rs2154136208
|
|
|
NM_001267550.2(TTN):c.101904A>C (p.Pro33968=)
|
rs1220438080
|
|
|
NM_001267550.2(TTN):c.101910C>T (p.Asp33970=)
|
|
|
|
NM_001267550.2(TTN):c.101922T>A (p.Leu33974=)
|
|
|
|
NM_001267550.2(TTN):c.101931T>G (p.Thr33977=)
|
|
|
|
NM_001267550.2(TTN):c.102009A>T (p.Thr34003=)
|
rs2154136064
|
|
|
NM_001267550.2(TTN):c.10200A>G (p.Gln3400=)
|
rs2088219073
|
|
|
NM_001267550.2(TTN):c.102018T>C (p.Tyr34006=)
|
rs761186144
|
|
|
NM_001267550.2(TTN):c.102036C>T (p.Ile34012=)
|
rs2154136041
|
|
|
NM_001267550.2(TTN):c.1020A>G (p.Glu340=)
|
rs2154356231
|
|
|
NM_001267550.2(TTN):c.102105T>C (p.Asp34035=)
|
rs370647845
|
|
|
NM_001267550.2(TTN):c.10212C>G (p.Ala3404=)
|
|
|
|
NM_001267550.2(TTN):c.102132T>C (p.Ile34044=)
|
|
|
|
NM_001267550.2(TTN):c.102147T>C (p.Phe34049=)
|
|
|
|
NM_001267550.2(TTN):c.102153C>T (p.Asp34051=)
|
|
|
|
NM_001267550.2(TTN):c.102156G>A (p.Arg34052=)
|
|
|
|
NM_001267550.2(TTN):c.102165G>A (p.Val34055=)
|
rs2154135953
|
|
|
NM_001267550.2(TTN):c.10218T>G (p.Ala3406=)
|
|
|
|
NM_001267550.2(TTN):c.102213A>T (p.Pro34071=)
|
|
|
|
NM_001267550.2(TTN):c.102219G>A (p.Leu34073=)
|
rs2154135883
|
|
|
NM_001267550.2(TTN):c.102222G>A (p.Lys34074=)
|
rs748885900
|
|
|
NM_001267550.2(TTN):c.102240C>T (p.Val34080=)
|
rs1575278575
|
|
|
NM_001267550.2(TTN):c.102243T>C (p.Ser34081=)
|
|
|
|
NM_001267550.2(TTN):c.102246T>C (p.Thr34082=)
|
rs1690502998
|
|
|
NM_001267550.2(TTN):c.102303C>T (p.Asp34101=)
|
rs2154135802
|
|
|
NM_001267550.2(TTN):c.102318G>T (p.Val34106=)
|
|
|
|
NM_001267550.2(TTN):c.102330G>A (p.Arg34110=)
|
rs1429348347
|
|
|
NM_001267550.2(TTN):c.102360G>A (p.Gln34120=)
|
|
|
|
NM_001267550.2(TTN):c.1023G>T (p.Val341=)
|
rs1060503956
|
|
|
NM_001267550.2(TTN):c.102441T>C (p.Gly34147=)
|
rs1575275811
|
|
|
NM_001267550.2(TTN):c.102453A>G (p.Gly34151=)
|
rs2154135700
|
|
|
NM_001267550.2(TTN):c.10245G>A (p.Thr3415=)
|
|
|
|
NM_001267550.2(TTN):c.102465T>C (p.Tyr34155=)
|
rs1371416890
|
|
|
NM_001267550.2(TTN):c.102468A>G (p.Val34156=)
|
|
|
|
NM_001267550.2(TTN):c.102498C>T (p.Thr34166=)
|
rs2154135673
|
|
|
NM_001267550.2(TTN):c.102516T>C (p.Phe34172=)
|
rs1690382907
|
|
|
NM_001267550.2(TTN):c.102531G>A (p.Leu34177=)
|
rs1575274682
|
|
|
NM_001267550.2(TTN):c.10254T>C (p.Ala3418=)
|
|
|
|
NM_001267550.2(TTN):c.102573G>A (p.Val34191=)
|
rs151209395
|
|
|
NM_001267550.2(TTN):c.102579C>A (p.Ile34193=)
|
rs1317954218
|
|
|
NM_001267550.2(TTN):c.102579C>T (p.Ile34193=)
|
|
|
|
NM_001267550.2(TTN):c.102582C>G (p.Leu34194=)
|
|
|
|
NM_001267550.2(TTN):c.102588C>T (p.Val34196=)
|
rs2154135600
|
|
|
NM_001267550.2(TTN):c.102594_102595inv (p.Ile34199Val)
|
|
|
|
NM_001267550.2(TTN):c.102621C>T (p.Tyr34207=)
|
rs1553494225
|
|
|
NM_001267550.2(TTN):c.102633A>C (p.Val34211=)
|
rs2154135560
|
|
|
NM_001267550.2(TTN):c.102642C>T (p.Asp34214=)
|
rs766760792
|
|
|
NM_001267550.2(TTN):c.102648T>C (p.Gly34216=)
|
|
|
|
NM_001267550.2(TTN):c.102663T>C (p.Tyr34221=)
|
|
|
|
NM_001267550.2(TTN):c.102699T>C (p.Tyr34233=)
|
rs770672571
|
|
|
NM_001267550.2(TTN):c.1026T>G (p.Pro342=)
|
|
|
|
NM_001267550.2(TTN):c.102714T>C (p.Arg34238=)
|
|
|
|
NM_001267550.2(TTN):c.102720C>A (p.Thr34240=)
|
|
|
|
NM_001267550.2(TTN):c.102735G>A (p.Lys34245=)
|
|
|
|
NM_001267550.2(TTN):c.102768G>A (p.Arg34256=)
|
|
|
|
NM_001267550.2(TTN):c.102784C>T (p.Leu34262=)
|
|
|
|
NM_001267550.2(TTN):c.102792C>G (p.Leu34264=)
|
rs2154135452
|
|
|
NM_001267550.2(TTN):c.102813A>G (p.Val34271=)
|
|
|
|
NM_001267550.2(TTN):c.102816T>C (p.Gly34272=)
|
rs978699834
|
|
|
NM_001267550.2(TTN):c.10281C>T (p.Ser3427=)
|
|
|
|
NM_001267550.2(TTN):c.102822T>C (p.Asn34274=)
|
rs1480278078
|
|
|
NM_001267550.2(TTN):c.102885T>C (p.Gly34295=)
|
rs886039175
|
|
|
NM_001267550.2(TTN):c.102897A>G (p.Lys34299=)
|
rs2154135353
|
|
|
NM_001267550.2(TTN):c.102903T>C (p.Gly34301=)
|
|
|
|
NM_001267550.2(TTN):c.10290C>T (p.Asn3430=)
|
rs2088189848
|
|
|
NM_001267550.2(TTN):c.102921C>T (p.Tyr34307=)
|
rs2154135325
|
|
|
NM_001267550.2(TTN):c.102933A>G (p.Ser34311=)
|
|
|
|
NM_001267550.2(TTN):c.102939G>A (p.Lys34313=)
|
|
|
|
NM_001267550.2(TTN):c.10293G>A (p.Leu3431=)
|
rs2154336805
|
|
|
NM_001267550.2(TTN):c.10296T>C (p.Ser3432=)
|
|
|
|
NM_001267550.2(TTN):c.10297C>T (p.Leu3433=)
|
|
|
|
NM_001267550.2(TTN):c.102999T>A (p.Val34333=)
|
|
|
|
NM_001267550.2(TTN):c.1029C>T (p.Pro343=)
|
|
|
|
NM_001267550.2(TTN):c.102T>C (p.Val34=)
|
|
|
|
NM_001267550.2(TTN):c.103011C>T (p.Asn34337=)
|
rs1575267192
|
|
|
NM_001267550.2(TTN):c.103020T>A (p.Gly34340=)
|
rs1690123204
|
|
|
NM_001267550.2(TTN):c.10303+7T>A
|
rs2154336799
|
|
|
NM_001267550.2(TTN):c.10304-11C>A
|
|
|
|
NM_001267550.2(TTN):c.10304-12G>A
|
|
|
|
NM_001267550.2(TTN):c.10304-18T>C
|
|
|
|
NM_001267550.2(TTN):c.10304-19T>C
|
|
|
|
NM_001267550.2(TTN):c.10304-4T>C
|
rs2154336190
|
|
|
NM_001267550.2(TTN):c.103044G>C (p.Leu34348=)
|
rs2154135240
|
|
|
NM_001267550.2(TTN):c.103054C>T (p.Leu34352=)
|
rs2154135232
|
|
|
NM_001267550.2(TTN):c.103062A>C (p.Pro34354=)
|
rs1559027075
|
|
|
NM_001267550.2(TTN):c.103113T>C (p.Asn34371=)
|
rs886042668
|
|
|
NM_001267550.2(TTN):c.103122C>T (p.Cys34374=)
|
rs878915763
|
|
|
NM_001267550.2(TTN):c.103173A>C (p.Pro34391=)
|
|
|
|
NM_001267550.2(TTN):c.103176A>G (p.Pro34392=)
|
|
|
|
NM_001267550.2(TTN):c.103191G>A (p.Glu34397=)
|
rs2154135124
|
|
|
NM_001267550.2(TTN):c.103206A>C (p.Pro34402=)
|
rs2154135114
|
|
|
NM_001267550.2(TTN):c.103218G>A (p.Gly34406=)
|
rs1301007046
|
|
|
NM_001267550.2(TTN):c.103218G>T (p.Gly34406=)
|
rs1301007046
|
|
|
NM_001267550.2(TTN):c.103239T>C (p.His34413=)
|
rs2154135099
|
|
|
NM_001267550.2(TTN):c.103246T>C (p.Leu34416=)
|
rs1553492053
|
|
|
NM_001267550.2(TTN):c.103251T>C (p.Asp34417=)
|
|
|
|
NM_001267550.2(TTN):c.103254T>C (p.Tyr34418=)
|
rs1575263475
|
|
|
NM_001267550.2(TTN):c.103266C>T (p.His34422=)
|
|
|
|
NM_001267550.2(TTN):c.10326T>C (p.Asn3442=)
|
rs2154336166
|
|
|
NM_001267550.2(TTN):c.1032T>A (p.Pro344=)
|
|
|
|
NM_001267550.2(TTN):c.103314C>T (p.Ala34438=)
|
rs1453210732
|
|
|
NM_001267550.2(TTN):c.103335C>T (p.Thr34445=)
|
|
|
|
NM_001267550.2(TTN):c.103353A>G (p.Leu34451=)
|
|
|
|
NM_001267550.2(TTN):c.103368G>A (p.Leu34456=)
|
|
|
|
NM_001267550.2(TTN):c.103404G>A (p.Glu34468=)
|
rs1575260897
|
|
|
NM_001267550.2(TTN):c.103411C>A (p.Arg34471=)
|
|
|
|
NM_001267550.2(TTN):c.103416C>T (p.His34472=)
|
|
|
|
NM_001267550.2(TTN):c.10341A>G (p.Gln3447=)
|
|
|
|
NM_001267550.2(TTN):c.103461T>C (p.Leu34487=)
|
|
|
|
NM_001267550.2(TTN):c.103482A>G (p.Pro34494=)
|
rs1689928650
|
|
|
NM_001267550.2(TTN):c.103485G>A (p.Leu34495=)
|
rs2154134888
|
|
|
NM_001267550.2(TTN):c.103512A>G (p.Arg34504=)
|
rs903354671
|
|
|
NM_001267550.2(TTN):c.103515A>G (p.Glu34505=)
|
|
|
|
NM_001267550.2(TTN):c.103524C>G (p.Val34508=)
|
rs587780985
|
|
|
NM_001267550.2(TTN):c.103530T>C (p.Tyr34510=)
|
|
|
|
NM_001267550.2(TTN):c.103536G>T (p.Pro34512=)
|
rs772961147
|
|
|
NM_001267550.2(TTN):c.103542A>G (p.Val34514=)
|
|
|
|
NM_001267550.2(TTN):c.103545C>T (p.Ser34515=)
|
|
|
|
NM_001267550.2(TTN):c.103570A>C (p.Arg34524=)
|
|
|
|
NM_001267550.2(TTN):c.103596G>A (p.Glu34532=)
|
rs1689866422
|
|
|
NM_001267550.2(TTN):c.10359A>C (p.Ser3453=)
|
rs779573705
|
|
|
NM_001267550.2(TTN):c.103605A>G (p.Lys34535=)
|
|
|
|
NM_001267550.2(TTN):c.103611G>A (p.Arg34537=)
|
|
|
|
NM_001267550.2(TTN):c.103611G>C (p.Arg34537=)
|
|
|
|
NM_001267550.2(TTN):c.103620T>C (p.Tyr34540=)
|
|
|
|
NM_001267550.2(TTN):c.103623T>C (p.Asp34541=)
|
rs1559020199
|
|
|
NM_001267550.2(TTN):c.103629A>G (p.Pro34543=)
|
rs2154134789
|
|
|
NM_001267550.2(TTN):c.103638C>G (p.Arg34546=)
|
rs774562694
|
|
|
NM_001267550.2(TTN):c.103644T>C (p.Tyr34548=)
|
rs2154134774
|
|
|
NM_001267550.2(TTN):c.103671A>G (p.Gln34557=)
|
rs2154134745
|
|
|
NM_001267550.2(TTN):c.103686C>T (p.Phe34562=)
|
rs777864853
|
|
|
NM_001267550.2(TTN):c.103689G>A (p.Val34563=)
|
|
|
|
NM_001267550.2(TTN):c.103692C>T (p.Pro34564=)
|
|
|
|
NM_001267550.2(TTN):c.103725T>C (p.Arg34575=)
|
|
|
|
NM_001267550.2(TTN):c.103728T>C (p.Asp34576=)
|
rs2154134697
|
|
|
NM_001267550.2(TTN):c.103731G>A (p.Gln34577=)
|
|
|
|
NM_001267550.2(TTN):c.103756A>C (p.Arg34586=)
|
rs1012679574
|
|
|
NM_001267550.2(TTN):c.103761T>C (p.Val34587=)
|
|
|
|
NM_001267550.2(TTN):c.10377G>A (p.Glu3459=)
|
rs1460874530
|
|
|
NM_001267550.2(TTN):c.103785C>A (p.Ile34595=)
|
|
|
|
NM_001267550.2(TTN):c.103788C>A (p.Arg34596=)
|
|
|
|
NM_001267550.2(TTN):c.10380C>T (p.Pro3460=)
|
|
|
|
NM_001267550.2(TTN):c.10383T>A (p.Leu3461=)
|
|
|
|
NM_001267550.2(TTN):c.103842A>G (p.Gln34614=)
|
rs2154134584
|
|
|
NM_001267550.2(TTN):c.103866T>C (p.Pro34622=)
|
|
|
|
NM_001267550.2(TTN):c.103872G>A (p.Leu34624=)
|
|
|
|
NM_001267550.2(TTN):c.103909C>A (p.Arg34637=)
|
rs200716930
|
|
|
NM_001267550.2(TTN):c.103914T>A (p.Arg34638=)
|
rs977041865
|
|
|
NM_001267550.2(TTN):c.103914T>C (p.Arg34638=)
|
rs977041865
|
|
|
NM_001267550.2(TTN):c.10392G>A (p.Lys3464=)
|
|
|
|
NM_001267550.2(TTN):c.103938T>C (p.Phe34646=)
|
rs971440079
|
|
|
NM_001267550.2(TTN):c.103941C>T (p.Tyr34647=)
|
rs991604284
|
|
|
NM_001267550.2(TTN):c.103956A>G (p.Arg34652=)
|
|
|
|
NM_001267550.2(TTN):c.103959T>G (p.Arg34653=)
|
|
|
|
NM_001267550.2(TTN):c.103968G>A (p.Gly34656=)
|
|
|
|
NM_001267550.2(TTN):c.103980T>C (p.Asp34660=)
|
rs1180954386
|
|
|
NM_001267550.2(TTN):c.103998C>T (p.Pro34666=)
|
rs1689668746
|
|
|
NM_001267550.2(TTN):c.104004T>C (p.Asp34668=)
|
rs2154134447
|
|
|
NM_001267550.2(TTN):c.104049T>C (p.Leu34683=)
|
rs1553489508
|
|
|
NM_001267550.2(TTN):c.104064G>A (p.Glu34688=)
|
|
|
|
NM_001267550.2(TTN):c.10407G>A (p.Gln3469=)
|
|
|
|
NM_001267550.2(TTN):c.104094A>C (p.Arg34698=)
|
rs2154134365
|
|
|
NM_001267550.2(TTN):c.104109T>C (p.Phe34703=)
|
|
|
|
NM_001267550.2(TTN):c.10411C>T (p.Leu3471=)
|
|
|
|
NM_001267550.2(TTN):c.104148T>C (p.His34716=)
|
rs771573294
|
|
|
NM_001267550.2(TTN):c.104160G>A (p.Glu34720=)
|
|
|
|
NM_001267550.2(TTN):c.10416A>G (p.Ser3472=)
|
|
|
|
NM_001267550.2(TTN):c.104172A>G (p.Lys34724=)
|
|
|
|
NM_001267550.2(TTN):c.104199C>T (p.Ile34733=)
|
|
|
|
NM_001267550.2(TTN):c.1041A>G (p.Gln347=)
|
|
|
|
NM_001267550.2(TTN):c.104220T>C (p.Ser34740=)
|
|
|
|
NM_001267550.2(TTN):c.10422C>T (p.Leu3474=)
|
|
|
|
NM_001267550.2(TTN):c.104236C>T (p.Leu34746=)
|
rs776974076
|
|
|
NM_001267550.2(TTN):c.104238G>A (p.Leu34746=)
|
|
|
|
NM_001267550.2(TTN):c.104238G>C (p.Leu34746=)
|
|
|
|
NM_001267550.2(TTN):c.104259T>C (p.Ala34753=)
|
|
|
|
NM_001267550.2(TTN):c.104265C>T (p.Tyr34755=)
|
rs756003817
|
|
|
NM_001267550.2(TTN):c.104292C>A (p.Ile34764=)
|
|
|
|
NM_001267550.2(TTN):c.104304G>A (p.Arg34768=)
|
|
|
|
NM_001267550.2(TTN):c.104307G>A (p.Glu34769=)
|
|
|
|
NM_001267550.2(TTN):c.104310T>C (p.Asp34770=)
|
rs2154134193
|
|
|
NM_001267550.2(TTN):c.104313A>G (p.Glu34771=)
|
|
|
|
NM_001267550.2(TTN):c.104340C>T (p.Thr34780=)
|
rs760997004
|
|
|
NM_001267550.2(TTN):c.104382A>G (p.Ser34794=)
|
|
|
|
NM_001267550.2(TTN):c.104412G>A (p.Arg34804=)
|
|
|
|
NM_001267550.2(TTN):c.104413C>A (p.Arg34805=)
|
|
|
|
NM_001267550.2(TTN):c.104415A>T (p.Arg34805=)
|
|
|
|
NM_001267550.2(TTN):c.104466A>G (p.Ser34822=)
|
|
|
|
NM_001267550.2(TTN):c.1044G>A (p.Glu348=)
|
|
|
|
NM_001267550.2(TTN):c.104512A>C (p.Arg34838=)
|
|
|
|
NM_001267550.2(TTN):c.104520G>A (p.Arg34840=)
|
|
|
|
NM_001267550.2(TTN):c.104520G>C (p.Arg34840=)
|
|
|
|
NM_001267550.2(TTN):c.104523C>T (p.Arg34841=)
|
|
|
|
NM_001267550.2(TTN):c.104527C>T (p.Leu34843=)
|
rs945747944
|
|
|
NM_001267550.2(TTN):c.104529G>A (p.Leu34843=)
|
|
|
|
NM_001267550.2(TTN):c.104529G>T (p.Leu34843=)
|
rs1362931621
|
|
|
NM_001267550.2(TTN):c.104535A>G (p.Pro34845=)
|
|
|
|
NM_001267550.2(TTN):c.104550A>G (p.Leu34850=)
|
rs2154134009
|
|
|
NM_001267550.2(TTN):c.10455T>C (p.His3485=)
|
rs2087756241
|
|
|
NM_001267550.2(TTN):c.104569C>T (p.Leu34857=)
|
|
|
|
NM_001267550.2(TTN):c.104580A>G (p.Ser34860=)
|
|
|
|
NM_001267550.2(TTN):c.104583T>C (p.Arg34861=)
|
|
|
|
NM_001267550.2(TTN):c.104592G>T (p.Pro34864=)
|
rs144094650
|
|
|
NM_001267550.2(TTN):c.104595T>C (p.Ala34865=)
|
|
|
|
NM_001267550.2(TTN):c.10461G>A (p.Arg3487=)
|
rs1449517557
|
|
|
NM_001267550.2(TTN):c.104625G>A (p.Arg34875=)
|
rs2154133933
|
|
|
NM_001267550.2(TTN):c.10464T>C (p.Val3488=)
|
|
|
|
NM_001267550.2(TTN):c.104664C>T (p.Ser34888=)
|
|
|
|
NM_001267550.2(TTN):c.104706T>G (p.Ser34902=)
|
|
|
|
NM_001267550.2(TTN):c.104751T>C (p.Ala34917=)
|
|
|
|
NM_001267550.2(TTN):c.104751T>G (p.Ala34917=)
|
rs2154133829
|
|
|
NM_001267550.2(TTN):c.104772A>T (p.Ser34924=)
|
|
|
|
NM_001267550.2(TTN):c.104784T>C (p.Tyr34928=)
|
rs769054122
|
|
|
NM_001267550.2(TTN):c.104791T>C (p.Leu34931=)
|
|
|
|
NM_001267550.2(TTN):c.10479G>A (p.Lys3493=)
|
rs2154336050
|
|
|
NM_001267550.2(TTN):c.104811A>C (p.Thr34937=)
|
|
|
|
NM_001267550.2(TTN):c.104820T>C (p.His34940=)
|
|
|
|
NM_001267550.2(TTN):c.104856G>A (p.Arg34952=)
|
|
|
|
NM_001267550.2(TTN):c.104868C>A (p.Gly34956=)
|
|
|
|
NM_001267550.2(TTN):c.104910T>C (p.Thr34970=)
|
|
|
|
NM_001267550.2(TTN):c.104916G>A (p.Glu34972=)
|
|
|
|
NM_001267550.2(TTN):c.104940G>A (p.Val34980=)
|
|
|
|
NM_001267550.2(TTN):c.104949A>G (p.Gln34983=)
|
rs2154133702
|
|
|
NM_001267550.2(TTN):c.104979G>C (p.Thr34993=)
|
|
|
|
NM_001267550.2(TTN):c.104985A>G (p.Gly34995=)
|
rs397517793
|
|
|
NM_001267550.2(TTN):c.104995C>T (p.Leu34999=)
|
rs727503532
|
|
|
NM_001267550.2(TTN):c.10503C>T (p.Asn3501=)
|
|
|
|
NM_001267550.2(TTN):c.105042T>C (p.Ala35014=)
|
rs1575233628
|
|
|
NM_001267550.2(TTN):c.105045G>A (p.Val35015=)
|
rs1469317465
|
|
|
NM_001267550.2(TTN):c.105075C>T (p.Asp35025=)
|
|
|
|
NM_001267550.2(TTN):c.105078T>C (p.Tyr35026=)
|
|
|
|
NM_001267550.2(TTN):c.105111C>T (p.Thr35037=)
|
|
|
|
NM_001267550.2(TTN):c.10515T>C (p.Ile3505=)
|
|
|
|
NM_001267550.2(TTN):c.105166C>T (p.Leu35056=)
|
|
|
|
NM_001267550.2(TTN):c.105195A>C (p.Ser35065=)
|
|
|
|
NM_001267550.2(TTN):c.105204G>A (p.Lys35068=)
|
|
|
|
NM_001267550.2(TTN):c.105207A>G (p.Lys35069=)
|
|
|
|
NM_001267550.2(TTN):c.105210A>G (p.Thr35070=)
|
rs1553486016
|
|
|
NM_001267550.2(TTN):c.105225T>G (p.Ala35075=)
|
rs769757318
|
|
|
NM_001267550.2(TTN):c.105234T>G (p.Ser35078=)
|
rs766500032
|
|
|
NM_001267550.2(TTN):c.105285A>T (p.Ser35095=)
|
rs2154133442
|
|
|
NM_001267550.2(TTN):c.105325T>C (p.Leu35109=)
|
|
|
|
NM_001267550.2(TTN):c.105327A>G (p.Leu35109=)
|
|
|
|
NM_001267550.2(TTN):c.105354C>T (p.Ser35118=)
|
rs2154133391
|
|
|
NM_001267550.2(TTN):c.105372G>A (p.Lys35124=)
|
|
|
|
NM_001267550.2(TTN):c.105384A>T (p.Ala35128=)
|
rs3813250
|
|
|
NM_001267550.2(TTN):c.10539C>G (p.Phe3513Leu)
|
rs2154336001
|
|
|
NM_001267550.2(TTN):c.105406C>A (p.Arg35136=)
|
rs372875128
|
|
|
NM_001267550.2(TTN):c.105417C>T (p.Thr35139=)
|
rs1373155619
|
|
|
NM_001267550.2(TTN):c.105456C>G (p.Thr35152=)
|
rs745952060
|
|
|
NM_001267550.2(TTN):c.105456C>T (p.Thr35152=)
|
rs745952060
|
|
|
NM_001267550.2(TTN):c.105459T>C (p.Asp35153=)
|
|
|
|
NM_001267550.2(TTN):c.105471A>G (p.Val35157=)
|
rs2154133273
|
|
|
NM_001267550.2(TTN):c.105471A>T (p.Val35157=)
|
|
|
|
NM_001267550.2(TTN):c.105477T>A (p.Thr35159=)
|
|
|
|
NM_001267550.2(TTN):c.105498A>G (p.Gly35166=)
|
rs2154133248
|
|
|
NM_001267550.2(TTN):c.105501A>G (p.Gln35167=)
|
|
|
|
NM_001267550.2(TTN):c.105504G>C (p.Val35168=)
|
|
|
|
NM_001267550.2(TTN):c.105525C>T (p.His35175=)
|
|
|
|
NM_001267550.2(TTN):c.105543G>A (p.Lys35181=)
|
rs1575225685
|
|
|
NM_001267550.2(TTN):c.105591C>A (p.Gly35197=)
|
|
|
|
NM_001267550.2(TTN):c.105594T>C (p.Asn35198=)
|
|
|
|
NM_001267550.2(TTN):c.105624G>A (p.Gly35208=)
|
rs763022587
|
|
|
NM_001267550.2(TTN):c.105624G>C (p.Gly35208=)
|
rs763022587
|
|
|
NM_001267550.2(TTN):c.105630A>G (p.Gln35210=)
|
|
|
|
NM_001267550.2(TTN):c.105636A>T (p.Ala35212=)
|
rs770221153
|
|
|
NM_001267550.2(TTN):c.105648G>A (p.Leu35216=)
|
|
|
|
NM_001267550.2(TTN):c.105696A>T (p.Pro35232=)
|
|
|
|
NM_001267550.2(TTN):c.105697A>C (p.Arg35233=)
|
|
|
|
NM_001267550.2(TTN):c.105732A>C (p.Pro35244=)
|
rs1203061089
|
|
|
NM_001267550.2(TTN):c.105765T>C (p.Ser35255=)
|
|
|
|
NM_001267550.2(TTN):c.105780C>T (p.His35260=)
|
rs373486593
|
|
|
NM_001267550.2(TTN):c.105783G>A (p.Pro35261=)
|
rs556765365
|
|
|
NM_001267550.2(TTN):c.105789C>T (p.Ala35263=)
|
rs2154133031
|
|
|
NM_001267550.2(TTN):c.105792A>T (p.Val35264=)
|
rs2154133027
|
|
|
NM_001267550.2(TTN):c.10587T>C (p.Ala3529=)
|
rs2154335968
|
|
|
NM_001267550.2(TTN):c.105903A>T (p.Ala35301=)
|
|
|
|
NM_001267550.2(TTN):c.105921T>G (p.Val35307=)
|
|
|
|
NM_001267550.2(TTN):c.105966T>C (p.Asp35322=)
|
|
|
|
NM_001267550.2(TTN):c.105981G>A (p.Lys35327=)
|
rs1306036159
|
|
|
NM_001267550.2(TTN):c.10605G>A (p.Gly3535=)
|
|
|
|
NM_001267550.2(TTN):c.10605G>T (p.Gly3535=)
|
|
|
|
NM_001267550.2(TTN):c.106119A>G (p.Gln35373=)
|
|
|
|
NM_001267550.2(TTN):c.106128G>T (p.Gly35376=)
|
|
|
|
NM_001267550.2(TTN):c.106188T>C (p.Asp35396=)
|
rs770681247
|
|
|
NM_001267550.2(TTN):c.106212A>C (p.Val35404=)
|
rs1312103333
|
|
|
NM_001267550.2(TTN):c.106215C>T (p.Thr35405=)
|
rs886038793
|
|
|
NM_001267550.2(TTN):c.106216A>C (p.Arg35406=)
|
|
|
|
NM_001267550.2(TTN):c.106230A>C (p.Pro35410=)
|
|
|
|
NM_001267550.2(TTN):c.106296T>C (p.Ser35432=)
|
|
|
|
NM_001267550.2(TTN):c.106302C>T (p.Asp35434=)
|
rs1371891927
|
|
|
NM_001267550.2(TTN):c.106308T>G (p.Val35436=)
|
|
|
|
NM_001267550.2(TTN):c.106326G>A (p.Lys35442=)
|
|
|
|
NM_001267550.2(TTN):c.106375-19A>G
|
|
|
|
NM_001267550.2(TTN):c.106375-19A>T
|
|
|
|
NM_001267550.2(TTN):c.106375-20A>G
|
|
|
|
NM_001267550.2(TTN):c.106375-6C>T
|
rs2154132468
|
|
|
NM_001267550.2(TTN):c.106375-7T>C
|
|
|
|
NM_001267550.2(TTN):c.106392T>G (p.Gly35464=)
|
|
|
|
NM_001267550.2(TTN):c.106398T>C (p.Tyr35466=)
|
rs1553482820
|
|
|
NM_001267550.2(TTN):c.106416G>A (p.Lys35472=)
|
|
|
|
NM_001267550.2(TTN):c.106422G>A (p.Gly35474=)
|
|
|
|
NM_001267550.2(TTN):c.106423T>A (p.Phe35475Ile)
|
rs377463445
|
|
|
NM_001267550.2(TTN):c.106425C>T (p.Phe35475=)
|
rs1445321656
|
|
|
NM_001267550.2(TTN):c.106431A>G (p.Leu35477=)
|
rs2154132413
|
|
|
NM_001267550.2(TTN):c.106479A>C (p.Thr35493=)
|
|
|
|
NM_001267550.2(TTN):c.106500T>C (p.Ser35500=)
|
|
|
|
NM_001267550.2(TTN):c.106519T>C (p.Leu35507=)
|
|
|
|
NM_001267550.2(TTN):c.106531+8G>A
|
|
|
|
NM_001267550.2(TTN):c.106532-18C>T
|
|
|
|
NM_001267550.2(TTN):c.10656T>C (p.Ala3552=)
|
|
|
|
NM_001267550.2(TTN):c.106584T>C (p.Ile35528=)
|
|
|
|
NM_001267550.2(TTN):c.106587A>C (p.Thr35529=)
|
|
|
|
NM_001267550.2(TTN):c.10659A>C (p.Thr3553=)
|
rs748958021
|
|
|
NM_001267550.2(TTN):c.1065T>G (p.Ser355=)
|
rs1574929574
|
|
|
NM_001267550.2(TTN):c.106608C>A (p.Val35536=)
|
|
|
|
NM_001267550.2(TTN):c.106608C>T (p.Val35536=)
|
rs2154131595
|
|
|
NM_001267550.2(TTN):c.106617A>G (p.Glu35539=)
|
|
|
|
NM_001267550.2(TTN):c.106635A>G (p.Leu35545=)
|
|
|
|
NM_001267550.2(TTN):c.106668A>G (p.Lys35556=)
|
|
|
|
NM_001267550.2(TTN):c.106689C>A (p.Leu35563=)
|
rs766528811
|
|
|
NM_001267550.2(TTN):c.106713G>A (p.Leu35571=)
|
rs1575196775
|
|
|
NM_001267550.2(TTN):c.10671T>C (p.Thr3557=)
|
|
|
|
NM_001267550.2(TTN):c.106750C>T (p.Leu35584=)
|
|
|
|
NM_001267550.2(TTN):c.106764T>C (p.Ile35588=)
|
rs771885830
|
|
|
NM_001267550.2(TTN):c.10678+7C>T
|
rs2154335892
|
|
|
NM_001267550.2(TTN):c.10678+9C>A
|
|
|
|
NM_001267550.2(TTN):c.10679-13C>T
|
rs2154335145
|
|
|
NM_001267550.2(TTN):c.10679-14A>G
|
|
|
|
NM_001267550.2(TTN):c.10679-15C>G
|
|
|
|
NM_001267550.2(TTN):c.10679-4A>G
|
|
|
|
NM_001267550.2(TTN):c.106794G>A (p.Gln35598=)
|
|
|
|
NM_001267550.2(TTN):c.106827T>C (p.Ile35609=)
|
rs727504540
|
|
|
NM_001267550.2(TTN):c.106854A>T (p.Ile35618=)
|
|
|
|
NM_001267550.2(TTN):c.106870C>T (p.Leu35624=)
|
|
|
|
NM_001267550.2(TTN):c.106875T>A (p.Val35625=)
|
|
|
|
NM_001267550.2(TTN):c.10687C>T (p.Leu3563=)
|
rs1574376699
|
|
|
NM_001267550.2(TTN):c.10689A>G (p.Leu3563=)
|
rs2154335118
|
|
|
NM_001267550.2(TTN):c.106926C>A (p.Gly35642=)
|
|
|
|
NM_001267550.2(TTN):c.10692T>C (p.Asp3564=)
|
rs1347086741
|
|
|
NM_001267550.2(TTN):c.106935T>A (p.Leu35645=)
|
|
|
|
NM_001267550.2(TTN):c.106941C>T (p.Asn35647=)
|
rs1397466214
|
|
|
NM_001267550.2(TTN):c.106953C>T (p.Tyr35651=)
|
rs376886668
|
|
|
NM_001267550.2(TTN):c.106959T>C (p.Tyr35653=)
|
rs369450212
|
|
|
NM_001267550.2(TTN):c.106992C>T (p.Ile35664=)
|
rs768519509
|
|
|
NM_001267550.2(TTN):c.107022C>T (p.Ile35674=)
|
rs2154131268
|
|
|
NM_001267550.2(TTN):c.107034A>T (p.Ile35678=)
|
rs1575191799
|
|
|
NM_001267550.2(TTN):c.107049A>G (p.Glu35683=)
|
rs1390069717
|
|
|
NM_001267550.2(TTN):c.107058C>G (p.Val35686=)
|
rs767818722
|
|
|
NM_001267550.2(TTN):c.107061G>A (p.Lys35687=)
|
rs113190638
|
|
|
NM_001267550.2(TTN):c.10707G>A (p.Gly3569=)
|
rs2154335100
|
|
|
NM_001267550.2(TTN):c.107088A>G (p.Lys35696=)
|
|
|
|
NM_001267550.2(TTN):c.107097A>G (p.Ser35699=)
|
rs771821464
|
|
|
NM_001267550.2(TTN):c.107109C>T (p.Ala35703=)
|
rs2154131185
|
|
|
NM_001267550.2(TTN):c.107112C>T (p.Phe35704=)
|
|
|
|
NM_001267550.2(TTN):c.107130T>C (p.Ser35710=)
|
|
|
|
NM_001267550.2(TTN):c.107157T>C (p.Val35719=)
|
rs1553479771
|
|
|
NM_001267550.2(TTN):c.107181C>G (p.Gly35727=)
|
rs762859509
|
|
|
NM_001267550.2(TTN):c.107199C>A (p.Ile35733=)
|
rs776237176
|
|
|
NM_001267550.2(TTN):c.107199C>T (p.Ile35733=)
|
rs776237176
|
|
|
NM_001267550.2(TTN):c.107223+11T>C
|
|
|
|
NM_001267550.2(TTN):c.107223+8del
|
|
|
|
NM_001267550.2(TTN):c.107241T>C (p.Asn35747=)
|
rs2154130960
|
|
|
NM_001267550.2(TTN):c.107280A>G (p.Glu35760=)
|
rs2154130921
|
|
|
NM_001267550.2(TTN):c.107289T>C (p.Asn35763=)
|
rs900676745
|
|
|
NM_001267550.2(TTN):c.107301C>T (p.Ser35767=)
|
rs1558965303
|
|
|
NM_001267550.2(TTN):c.107307T>C (p.Ser35769=)
|
|
|
|
NM_001267550.2(TTN):c.107316C>T (p.Tyr35772=)
|
rs2154130895
|
|
|
NM_001267550.2(TTN):c.107349T>C (p.Cys35783=)
|
rs2154130874
|
|
|
NM_001267550.2(TTN):c.10734C>T (p.Ser3578=)
|
|
|
|
NM_001267550.2(TTN):c.107361T>C (p.Ala35787=)
|
|
|
|
NM_001267550.2(TTN):c.107377+11C>T
|
rs2154130827
|
|
|
NM_001267550.2(TTN):c.107377+13T>A
|
|
|
|
NM_001267550.2(TTN):c.107377+13T>C
|
|
|
|
NM_001267550.2(TTN):c.107377+7A>G
|
|
|
|
NM_001267550.2(TTN):c.107377+8T>A
|
|
|
|
NM_001267550.2(TTN):c.107377+8T>C
|
rs2154130834
|
|
|
NM_001267550.2(TTN):c.107377+9C>G
|
rs2154130830
|
|
|
NM_001267550.2(TTN):c.107378-11A>G
|
rs2154130393
|
|
|
NM_001267550.2(TTN):c.107378-16C>G
|
|
|
|
NM_001267550.2(TTN):c.107378-18del
|
rs2154130403
|
|
|
NM_001267550.2(TTN):c.107378-19T>C
|
|
|
|
NM_001267550.2(TTN):c.107391A>G (p.Glu35797=)
|
|
|
|
NM_001267550.2(TTN):c.107406A>G (p.Val35802=)
|
rs1313489849
|
|
|
NM_001267550.2(TTN):c.107409A>G (p.Val35803=)
|
rs1687042089
|
|
|
NM_001267550.2(TTN):c.107457G>A (p.Gln35819=)
|
rs1575177357
|
|
|
NM_001267550.2(TTN):c.10746A>C (p.Ala3582=)
|
|
|
|
NM_001267550.2(TTN):c.107511C>T (p.Ser35837=)
|
|
|
|
NM_001267550.2(TTN):c.107526C>T (p.Ser35842=)
|
|
|
|
NM_001267550.2(TTN):c.107547A>T (p.Ala35849=)
|
rs1391668008
|
|
|
NM_001267550.2(TTN):c.107559C>G (p.Ala35853=)
|
rs1060503952
|
|
|
NM_001267550.2(TTN):c.10755T>C (p.Ser3585=)
|
rs2154335067
|
|
|
NM_001267550.2(TTN):c.107583G>A (p.Glu35861=)
|
rs1575176019
|
|
|
NM_001267550.2(TTN):c.10758C>T (p.Phe3586=)
|
|
|
|
NM_001267550.2(TTN):c.107634A>G (p.Thr35878=)
|
rs878854285
|
|
|
NM_001267550.2(TTN):c.107649A>T (p.Ser35883=)
|
|
|
|
NM_001267550.2(TTN):c.107681-13T>C
|
|
|
|
NM_001267550.2(TTN):c.107681-14A>G
|
|
|
|
NM_001267550.2(TTN):c.107681-16T>A
|
|
|
|
NM_001267550.2(TTN):c.107681-20T>A
|
|
|
|
NM_001267550.2(TTN):c.107681-21_107681-18del
|
rs148707308
|
|
|
NM_001267550.2(TTN):c.107681-4A>C
|
|
|
|
NM_001267550.2(TTN):c.107681-5T>A
|
|
|
|
NM_001267550.2(TTN):c.10770G>A (p.Glu3590=)
|
rs377401997
|
|
|
NM_001267550.2(TTN):c.107730A>G (p.Glu35910=)
|
rs2154129973
|
|
|
NM_001267550.2(TTN):c.107740C>T (p.Leu35914=)
|
rs1686796147
|
|
|
NM_001267550.2(TTN):c.107787A>G (p.Thr35929=)
|
|
|
|
NM_001267550.2(TTN):c.107808A>G (p.Lys35936=)
|
rs2154129894
|
|
|
NM_001267550.2(TTN):c.107838C>T (p.His35946=)
|
|
|
|
NM_001267550.2(TTN):c.107874C>T (p.Ile35958=)
|
|
|
|
NM_001267550.2(TTN):c.10788G>A (p.Lys3596=)
|
|
|
|
NM_001267550.2(TTN):c.107895T>C (p.Asp35965=)
|
|
|
|
NM_001267550.2(TTN):c.107898T>A (p.Gly35966=)
|
|
|
|
NM_001267550.2(TTN):c.107913G>C (p.Leu35971=)
|
rs1323084443
|
|
|
NM_001267550.2(TTN):c.107925T>C (p.Asn35975=)
|
rs2154129783
|
|
|
NM_001267550.2(TTN):c.107940C>T (p.Asp35980=)
|
|
|
|
NM_001267550.2(TTN):c.107949T>C (p.Thr35983=)
|
|
|
|
NM_001267550.2(TTN):c.107975A>G (p.Ter35992=)
|
rs2154129758
|
|
|
NM_001267550.2(TTN):c.10800A>G (p.Ser3600=)
|
rs2154335039
|
|
|
NM_001267550.2(TTN):c.10815A>T (p.Ser3605=)
|
|
|
|
NM_001267550.2(TTN):c.10845T>C (p.Ser3615=)
|
rs2087080570
|
|
|
NM_001267550.2(TTN):c.10857T>C (p.Ser3619=)
|
|
|
|
NM_001267550.2(TTN):c.10863C>T (p.Ile3621=)
|
rs879077072
|
|
|
NM_001267550.2(TTN):c.1086A>G (p.Thr362=)
|
rs2154356203
|
|
|
NM_001267550.2(TTN):c.10893G>A (p.Gln3631=)
|
|
|
|
NM_001267550.2(TTN):c.10902T>C (p.His3634=)
|
rs2154334975
|
|
|
NM_001267550.2(TTN):c.10917A>G (p.Ser3639=)
|
rs1384972489
|
|
|
NM_001267550.2(TTN):c.10932C>T (p.Ser3644=)
|
rs2154334960
|
|
|
NM_001267550.2(TTN):c.10950A>G (p.Glu3650=)
|
|
|
|
NM_001267550.2(TTN):c.10953T>C (p.Cys3651=)
|
rs2154334941
|
|
|
NM_001267550.2(TTN):c.10965C>A (p.Ser3655=)
|
|
|
|
NM_001267550.2(TTN):c.10965C>T (p.Ser3655=)
|
rs760281559
|
|
|
NM_001267550.2(TTN):c.10971T>C (p.Gly3657=)
|
|
|
|
NM_001267550.2(TTN):c.1098C>G (p.Thr366=)
|
|
|
|
NM_001267550.2(TTN):c.1098C>T (p.Thr366=)
|
|
|
|
NM_001267550.2(TTN):c.10990C>T (p.Leu3664=)
|
rs1445421739
|
|
|
NM_001267550.2(TTN):c.11001G>A (p.Gln3667=)
|
|
|
|
NM_001267550.2(TTN):c.1101T>C (p.Ser367=)
|
rs2154356195
|
|
|
NM_001267550.2(TTN):c.11022T>C (p.Gly3674=)
|
rs2086987884
|
|
|
NM_001267550.2(TTN):c.11028G>A (p.Thr3676=)
|
|
|
|
NM_001267550.2(TTN):c.11073A>C (p.Val3691=)
|
rs1270392543
|
|
|
NM_001267550.2(TTN):c.11118G>A (p.Leu3706=)
|
rs781238761
|
|
|
NM_001267550.2(TTN):c.11154C>G (p.Thr3718=)
|
rs780358198
|
|
|
NM_001267550.2(TTN):c.11154C>T (p.Thr3718=)
|
|
|
|
NM_001267550.2(TTN):c.11163T>C (p.Asn3721=)
|
|
|
|
NM_001267550.2(TTN):c.11184A>G (p.Gly3728=)
|
|
|
|
NM_001267550.2(TTN):c.1119A>G (p.Glu373=)
|
|
|
|
NM_001267550.2(TTN):c.11208T>C (p.Asn3736=)
|
rs138485458
|
|
|
NM_001267550.2(TTN):c.11214T>C (p.Cys3738=)
|
|
|
|
NM_001267550.2(TTN):c.11232A>G (p.Ser3744=)
|
|
|
|
NM_001267550.2(TTN):c.11235A>G (p.Ala3745=)
|
|
|
|
NM_001267550.2(TTN):c.11250A>G (p.Glu3750=)
|
rs2154334742
|
|
|
NM_001267550.2(TTN):c.11254+19A>G
|
|
|
|
NM_001267550.2(TTN):c.11255-15G>A
|
|
|
|
NM_001267550.2(TTN):c.11255-16T>C
|
rs2154332319
|
|
|
NM_001267550.2(TTN):c.11255-17A>G
|
|
|
|
NM_001267550.2(TTN):c.11255-20T>A
|
|
|
|
NM_001267550.2(TTN):c.11255-20T>C
|
rs771343426
|
|
|
NM_001267550.2(TTN):c.11255-21_11255-20del
|
rs2086040495
|
|
|
NM_001267550.2(TTN):c.11255-7A>G
|
rs1044422928
|
|
|
NM_001267550.2(TTN):c.11256T>C (p.Ala3752=)
|
rs375859088
|
|
|
NM_001267550.2(TTN):c.11265A>G (p.Ser3755=)
|
|
|
|
NM_001267550.2(TTN):c.11274T>C (p.His3758=)
|
|
|
|
NM_001267550.2(TTN):c.11280G>A (p.Arg3760=)
|
rs1304982242
|
|
|
NM_001267550.2(TTN):c.11311+10T>C
|
rs2154332290
|
|
|
NM_001267550.2(TTN):c.11311+15G>A
|
|
|
|
NM_001267550.2(TTN):c.11311+16A>T
|
rs2154332288
|
|
|
NM_001267550.2(TTN):c.11312-10C>G
|
|
|
|
NM_001267550.2(TTN):c.11312-16A>G
|
|
|
|
NM_001267550.2(TTN):c.11312-6A>G
|
rs1200157226
|
|
|
NM_001267550.2(TTN):c.11312-8C>T
|
rs374893678
|
|
|
NM_001267550.2(TTN):c.11334T>C (p.Ser3778=)
|
rs397517824
|
|
|
NM_001267550.2(TTN):c.11403G>A (p.Leu3801=)
|
|
|
|
NM_001267550.2(TTN):c.1140C>T (p.Tyr380=)
|
|
|
|
NM_001267550.2(TTN):c.11415A>G (p.Pro3805=)
|
rs561157636
|
|
|
NM_001267550.2(TTN):c.11415A>T (p.Pro3805=)
|
rs561157636
|
|
|
NM_001267550.2(TTN):c.11421C>T (p.Tyr3807=)
|
|
|
|
NM_001267550.2(TTN):c.11454T>C (p.Thr3818=)
|
|
|
|
NM_001267550.2(TTN):c.11469C>T (p.Ile3823=)
|
rs1315854962
|
|
|
NM_001267550.2(TTN):c.1146C>T (p.Val382=)
|
rs2093692656
|
|
|
NM_001267550.2(TTN):c.11475A>G (p.Glu3825=)
|
rs1057523983
|
|
|
NM_001267550.2(TTN):c.11481A>G (p.Ser3827=)
|
rs2154319137
|
|
|
NM_001267550.2(TTN):c.11508G>C (p.Val3836=)
|
|
|
|
NM_001267550.2(TTN):c.11517G>A (p.Leu3839=)
|
|
|
|
NM_001267550.2(TTN):c.11517G>T (p.Leu3839=)
|
|
|
|
NM_001267550.2(TTN):c.11565T>C (p.Phe3855=)
|
|
|
|
NM_001267550.2(TTN):c.11577A>G (p.Leu3859=)
|
|
|
|
NM_001267550.2(TTN):c.11583C>A (p.Thr3861=)
|
|
|
|
NM_001267550.2(TTN):c.11589T>G (p.Ser3863=)
|
|
|
|
NM_001267550.2(TTN):c.11595C>T (p.Asp3865=)
|
|
|
|
NM_001267550.2(TTN):c.11616T>C (p.Gly3872=)
|
|
|
|
NM_001267550.2(TTN):c.11619T>C (p.Asp3873=)
|
rs879136328
|
|
|
NM_001267550.2(TTN):c.1161C>T (p.Thr387=)
|
rs753484667
|
|
|
NM_001267550.2(TTN):c.11631G>A (p.Leu3877=)
|
|
|
|
NM_001267550.2(TTN):c.11652G>A (p.Leu3884=)
|
|
|
|
NM_001267550.2(TTN):c.11667G>A (p.Glu3889=)
|
rs377423256
|
|
|
NM_001267550.2(TTN):c.11676T>C (p.Cys3892=)
|
rs879119259
|
|
|
NM_001267550.2(TTN):c.11688T>C (p.Asn3896=)
|
|
|
|
NM_001267550.2(TTN):c.1170T>C (p.Gly390=)
|
rs2093691263
|
|
|
NM_001267550.2(TTN):c.11712T>C (p.Ser3904=)
|
rs553478382
|
|
|
NM_001267550.2(TTN):c.11733C>T (p.Ser3911=)
|
|
|
|
NM_001267550.2(TTN):c.1179T>C (p.Gly393=)
|
rs1574927906
|
|
|
NM_001267550.2(TTN):c.11856G>A (p.Gly3952=)
|
rs1057524094
|
|
|
NM_001267550.2(TTN):c.11865C>T (p.Ala3955=)
|
|
|
|
NM_001267550.2(TTN):c.11895T>C (p.Pro3965=)
|
|
|
|
NM_001267550.2(TTN):c.11898C>A (p.Ala3966=)
|
rs2154318780
|
|
|
NM_001267550.2(TTN):c.11901T>C (p.Pro3967=)
|
rs2154318778
|
|
|
NM_001267550.2(TTN):c.11952C>T (p.Tyr3984=)
|
|
|
|
NM_001267550.2(TTN):c.11959A>G (p.Ile3987Val)
|
rs551387805
|
|
|
NM_001267550.2(TTN):c.12045T>C (p.Asn4015=)
|
|
|
|
NM_001267550.2(TTN):c.12069A>G (p.Ala4023=)
|
|
|
|
NM_001267550.2(TTN):c.1206T>G (p.Ala402=)
|
rs1182040505
|
|
|
NM_001267550.2(TTN):c.12078G>C (p.Leu4026=)
|
rs926556907
|
|
|
NM_001267550.2(TTN):c.12102C>T (p.Asp4034=)
|
rs964514904
|
|
|
NM_001267550.2(TTN):c.12111T>C (p.Asp4037=)
|
|
|
|
NM_001267550.2(TTN):c.12114C>T (p.Thr4038=)
|
rs184886891
|
|
|
NM_001267550.2(TTN):c.12129G>A (p.Lys4043=)
|
|
|
|
NM_001267550.2(TTN):c.12168C>T (p.Pro4056=)
|
|
|
|
NM_001267550.2(TTN):c.12180C>T (p.Pro4060=)
|
|
|
|
NM_001267550.2(TTN):c.12198C>T (p.Asp4066=)
|
|
|
|
NM_001267550.2(TTN):c.12219G>A (p.Thr4073=)
|
rs145303398
|
|
|
NM_001267550.2(TTN):c.12249T>C (p.Ala4083=)
|
|
|
|
NM_001267550.2(TTN):c.12274C>T (p.Leu4092=)
|
|
|
|
NM_001267550.2(TTN):c.12282T>C (p.Tyr4094=)
|
|
|
|
NM_001267550.2(TTN):c.12306A>G (p.Glu4102=)
|
rs2154318476
|
|
|
NM_001267550.2(TTN):c.12307T>C (p.Leu4103=)
|
rs587780988
|
|
|
NM_001267550.2(TTN):c.12309G>A (p.Leu4103=)
|
|
|
|
NM_001267550.2(TTN):c.12312C>T (p.Ser4104=)
|
rs765135653
|
|
|
NM_001267550.2(TTN):c.12333T>A (p.Ala4111=)
|
rs1574086245
|
|
|
NM_001267550.2(TTN):c.12345A>G (p.Gln4115=)
|
|
|
|
NM_001267550.2(TTN):c.12357G>A (p.Glu4119=)
|
|
|
|
NM_001267550.2(TTN):c.12381C>T (p.Ser4127=)
|
|
|
|
NM_001267550.2(TTN):c.1239T>C (p.Ala413=)
|
rs2154356147
|
|
|
NM_001267550.2(TTN):c.12408C>G (p.Gly4136=)
|
rs760021087
|
|
|
NM_001267550.2(TTN):c.12423G>A (p.Gln4141=)
|
rs1310898352
|
|
|
NM_001267550.2(TTN):c.12426T>A (p.Pro4142=)
|
|
|
|
NM_001267550.2(TTN):c.12438A>C (p.Pro4146=)
|
rs1035337206
|
|
|
NM_001267550.2(TTN):c.1245+10G>T
|
|
|
|
NM_001267550.2(TTN):c.1246-13A>G
|
|
|
|
NM_001267550.2(TTN):c.1246-17G>C
|
|
|
|
NM_001267550.2(TTN):c.1246-5T>C
|
rs727503707
|
|
|
NM_001267550.2(TTN):c.12465A>G (p.Val4155=)
|
rs2154318367
|
|
|
NM_001267550.2(TTN):c.12477A>G (p.Lys4159=)
|
|
|
|
NM_001267550.2(TTN):c.12501A>C (p.Leu4167=)
|
rs2154318340
|
|
|
NM_001267550.2(TTN):c.12519G>A (p.Glu4173=)
|
|
|
|
NM_001267550.2(TTN):c.12540T>C (p.Asp4180=)
|
|
|
|
NM_001267550.2(TTN):c.12564C>T (p.Ala4188=)
|
rs547338168
|
|
|
NM_001267550.2(TTN):c.12597T>C (p.Val4199=)
|
|
|
|
NM_001267550.2(TTN):c.12604C>T (p.Leu4202=)
|
|
|
|
NM_001267550.2(TTN):c.12633G>C (p.Gly4211=)
|
|
|
|
NM_001267550.2(TTN):c.12639T>C (p.Tyr4213=)
|
rs2082319055
|
|
|
NM_001267550.2(TTN):c.12651A>G (p.Ser4217=)
|
rs766575722
|
|
|
NM_001267550.2(TTN):c.12705A>G (p.Ser4235=)
|
rs2154318215
|
|
|
NM_001267550.2(TTN):c.12729C>T (p.Asp4243=)
|
|
|
|
NM_001267550.2(TTN):c.12735C>T (p.Asn4245=)
|
|
|
|
NM_001267550.2(TTN):c.12777T>C (p.Ser4259=)
|
rs1301290217
|
|
|
NM_001267550.2(TTN):c.12813C>T (p.His4271=)
|
rs373302409
|
|
|
NM_001267550.2(TTN):c.12819G>A (p.Glu4273=)
|
|
|
|
NM_001267550.2(TTN):c.1281G>A (p.Ala427=)
|
rs569584999
|
|
|
NM_001267550.2(TTN):c.12834T>G (p.Pro4278=)
|
rs1445588727
|
|
|
NM_001267550.2(TTN):c.12837T>C (p.Asp4279=)
|
rs762681376
|
|
|
NM_001267550.2(TTN):c.12855A>G (p.Val4285=)
|
rs921588705
|
|
|
NM_001267550.2(TTN):c.12867C>T (p.Pro4289=)
|
|
|
|
NM_001267550.2(TTN):c.12894A>G (p.Thr4298=)
|
|
|
|
NM_001267550.2(TTN):c.12910T>C (p.Leu4304=)
|
rs754169563
|
|
|
NM_001267550.2(TTN):c.12918A>G (p.Glu4306=)
|
rs1574077933
|
|
|
NM_001267550.2(TTN):c.12921T>C (p.Ser4307=)
|
rs1490439391
|
|
|
NM_001267550.2(TTN):c.12942A>G (p.Ala4314=)
|
rs1574077557
|
|
|
NM_001267550.2(TTN):c.12948A>G (p.Gln4316=)
|
|
|
|
NM_001267550.2(TTN):c.12954T>C (p.Ser4318=)
|
|
|
|
NM_001267550.2(TTN):c.12957G>T (p.Ala4319=)
|
rs762330685
|
|
|
NM_001267550.2(TTN):c.12975C>G (p.Gly4325=)
|
|
|
|
NM_001267550.2(TTN):c.12981C>G (p.Ser4327=)
|
rs1553938292
|
|
|
NM_001267550.2(TTN):c.12996A>G (p.Leu4332=)
|
rs1574076836
|
|
|
NM_001267550.2(TTN):c.12999A>C (p.Ala4333=)
|
rs998243378
|
|
|
NM_001267550.2(TTN):c.13017A>G (p.Val4339=)
|
rs2154318035
|
|
|
NM_001267550.2(TTN):c.13017A>T (p.Val4339=)
|
rs2154318035
|
|
|
NM_001267550.2(TTN):c.13023C>T (p.Leu4341=)
|
rs377195944
|
|
|
NM_001267550.2(TTN):c.13029A>G (p.Glu4343=)
|
|
|
|
NM_001267550.2(TTN):c.13062C>T (p.Asp4354=)
|
rs1553938075
|
|
|
NM_001267550.2(TTN):c.13077T>C (p.Ser4359=)
|
|
|
|
NM_001267550.2(TTN):c.13089C>A (p.Pro4363=)
|
rs555324138
|
|
|
NM_001267550.2(TTN):c.1308C>T (p.Ala436=)
|
|
|
|
NM_001267550.2(TTN):c.13095A>G (p.Ala4365=)
|
|
|
|
NM_001267550.2(TTN):c.1314G>T (p.Val438=)
|
rs565472070
|
|
|
NM_001267550.2(TTN):c.13152T>G (p.Leu4384=)
|
|
|
|
NM_001267550.2(TTN):c.13155T>C (p.Ser4385=)
|
rs1574074373
|
|
|
NM_001267550.2(TTN):c.13167A>G (p.Glu4389=)
|
rs2154317934
|
|
|
NM_001267550.2(TTN):c.13191T>A (p.Ile4397=)
|
|
|
|
NM_001267550.2(TTN):c.1323A>G (p.Pro441=)
|
rs770102555
|
|
|
NM_001267550.2(TTN):c.13251G>A (p.Glu4417=)
|
rs879188386
|
|
|
NM_001267550.2(TTN):c.13260A>G (p.Arg4420=)
|
|
|
|
NM_001267550.2(TTN):c.13278G>A (p.Glu4426=)
|
rs2154317872
|
|
|
NM_001267550.2(TTN):c.13293C>T (p.Asn4431=)
|
rs1574072620
|
|
|
NM_001267550.2(TTN):c.1329C>T (p.Ile443=)
|
|
|
|
NM_001267550.2(TTN):c.13302A>G (p.Gln4434=)
|
|
|
|
NM_001267550.2(TTN):c.13329C>T (p.Tyr4443=)
|
rs2082191056
|
|
|
NM_001267550.2(TTN):c.13344A>T (p.Ala4448=)
|
|
|
|
NM_001267550.2(TTN):c.13347G>A (p.Lys4449=)
|
|
|
|
NM_001267550.2(TTN):c.13356A>C (p.Thr4452=)
|
rs992796171
|
|
|
NM_001267550.2(TTN):c.13371C>A (p.Ile4457=)
|
rs570991398
|
|
|
NM_001267550.2(TTN):c.13383T>C (p.Asp4461=)
|
|
|
|
NM_001267550.2(TTN):c.13401T>A (p.Ala4467=)
|
rs2154317797
|
|
|
NM_001267550.2(TTN):c.13404C>T (p.Asn4468=)
|
|
|
|
NM_001267550.2(TTN):c.13431G>A (p.Leu4477=)
|
|
|
|
NM_001267550.2(TTN):c.13434T>C (p.Cys4478=)
|
rs2154317785
|
|
|
NM_001267550.2(TTN):c.13440T>C (p.Ile4480=)
|
|
|
|
NM_001267550.2(TTN):c.13464A>C (p.Leu4488=)
|
rs2154317755
|
|
|
NM_001267550.2(TTN):c.13497C>T (p.Ala4499=)
|
rs1574070055
|
|
|
NM_001267550.2(TTN):c.13530T>C (p.Phe4510=)
|
rs764801931
|
|
|
NM_001267550.2(TTN):c.13533A>G (p.Ser4511=)
|
|
|
|
NM_001267550.2(TTN):c.1356G>A (p.Arg452=)
|
rs2154355952
|
|
|
NM_001267550.2(TTN):c.13575A>G (p.Glu4525=)
|
|
|
|
NM_001267550.2(TTN):c.13608T>C (p.Ser4536=)
|
|
|
|
NM_001267550.2(TTN):c.13611T>C (p.Tyr4537=)
|
rs2154317669
|
|
|
NM_001267550.2(TTN):c.1362C>A (p.Thr454=)
|
|
|
|
NM_001267550.2(TTN):c.1368T>C (p.Thr456=)
|
|
|
|
NM_001267550.2(TTN):c.13740C>G (p.Ser4580=)
|
|
|
|
NM_001267550.2(TTN):c.13755T>C (p.Thr4585=)
|
rs2154317575
|
|
|
NM_001267550.2(TTN):c.13761G>A (p.Glu4587=)
|
|
|
|
NM_001267550.2(TTN):c.13812T>C (p.Asp4604=)
|
rs2154317542
|
|
|
NM_001267550.2(TTN):c.13878A>C (p.Thr4626=)
|
|
|
|
NM_001267550.2(TTN):c.13932G>A (p.Val4644=)
|
|
|
|
NM_001267550.2(TTN):c.13932G>T (p.Val4644=)
|
|
|
|
NM_001267550.2(TTN):c.13947G>A (p.Lys4649=)
|
|
|
|
NM_001267550.2(TTN):c.13974A>G (p.Thr4658=)
|
|
|
|
NM_001267550.2(TTN):c.13977T>C (p.Tyr4659=)
|
rs1197328423
|
|
|
NM_001267550.2(TTN):c.1398+12G>C
|
rs1033605445
|
|
|
NM_001267550.2(TTN):c.1398+20G>T
|
|
|
|
NM_001267550.2(TTN):c.13980G>T (p.Thr4660=)
|
|
|
|
NM_001267550.2(TTN):c.13989C>A (p.Ile4663=)
|
rs1361452637
|
|
|
NM_001267550.2(TTN):c.1399-4G>A
|
rs2093621290
|
|
|
NM_001267550.2(TTN):c.1399-4G>T
|
rs2093621290
|
|
|
NM_001267550.2(TTN):c.13998A>G (p.Val4666=)
|
rs2082056467
|
|
|
NM_001267550.2(TTN):c.1402A>C (p.Arg468=)
|
rs1554033812
|
|
|
NM_001267550.2(TTN):c.14082A>G (p.Val4694=)
|
|
|
|
NM_001267550.2(TTN):c.14092+12A>G
|
|
|
|
NM_001267550.2(TTN):c.14092+15A>T
|
|
|
|
NM_001267550.2(TTN):c.14092+7T>C
|
rs2154317357
|
|
|
NM_001267550.2(TTN):c.14093-10C>T
|
|
|
|
NM_001267550.2(TTN):c.14093-8C>T
|
|
|
|
NM_001267550.2(TTN):c.14103G>A (p.Val4701=)
|
rs1574052378
|
|
|
NM_001267550.2(TTN):c.1410A>G (p.Glu470=)
|
|
|
|
NM_001267550.2(TTN):c.14118C>T (p.Ile4706=)
|
rs267599072
|
|
|
NM_001267550.2(TTN):c.14121A>G (p.Glu4707=)
|
|
|
|
NM_001267550.2(TTN):c.14137C>T (p.Leu4713=)
|
|
|
|
NM_001267550.2(TTN):c.14139G>A (p.Leu4713=)
|
rs1238228734
|
|
|
NM_001267550.2(TTN):c.14142C>T (p.Gly4714=)
|
rs1574051689
|
|
|
NM_001267550.2(TTN):c.14169C>A (p.Ile4723=)
|
|
|
|
NM_001267550.2(TTN):c.14178T>C (p.Ala4726=)
|
rs2154316736
|
|
|
NM_001267550.2(TTN):c.14202T>C (p.Phe4734=)
|
rs2154316716
|
|
|
NM_001267550.2(TTN):c.14212C>A (p.Arg4738=)
|
rs1311308523
|
|
|
NM_001267550.2(TTN):c.14226G>A (p.Glu4742=)
|
|
|
|
NM_001267550.2(TTN):c.1422T>A (p.Thr474=)
|
rs1264009657
|
|
|
NM_001267550.2(TTN):c.14241T>C (p.Ser4747=)
|
|
|
|
NM_001267550.2(TTN):c.14301C>T (p.Cys4767=)
|
rs1217230000
|
|
|
NM_001267550.2(TTN):c.14307G>A (p.Glu4769=)
|
|
|
|
NM_001267550.2(TTN):c.1434G>A (p.Lys478=)
|
|
|
|
NM_001267550.2(TTN):c.14355C>T (p.Ala4785=)
|
rs1198752367
|
|
|
NM_001267550.2(TTN):c.14361A>G (p.Leu4787=)
|
rs2154316589
|
|
|
NM_001267550.2(TTN):c.14367G>C (p.Val4789=)
|
rs2154316583
|
|
|
NM_001267550.2(TTN):c.14371+11T>C
|
|
|
|
NM_001267550.2(TTN):c.14371+13C>T
|
|
|
|
NM_001267550.2(TTN):c.14371+15T>G
|
|
|
|
NM_001267550.2(TTN):c.14371+20A>G
|
|
|
|
NM_001267550.2(TTN):c.14371+8C>G
|
|
|
|
NM_001267550.2(TTN):c.14371+8C>T
|
rs751432909
|
|
|
NM_001267550.2(TTN):c.14372-11T>C
|
|
|
|
NM_001267550.2(TTN):c.14372-9C>T
|
|
|
|
NM_001267550.2(TTN):c.14376A>T (p.Ala4792=)
|
rs2154314578
|
|
|
NM_001267550.2(TTN):c.14379T>C (p.Tyr4793=)
|
rs2154314574
|
|
|
NM_001267550.2(TTN):c.14409C>G (p.Ser4803=)
|
|
|
|
NM_001267550.2(TTN):c.1443G>C (p.Val481=)
|
|
|
|
NM_001267550.2(TTN):c.14466T>G (p.Pro4822=)
|
rs2154314521
|
|
|
NM_001267550.2(TTN):c.1446C>A (p.Ala482=)
|
rs183258737
|
|
|
NM_001267550.2(TTN):c.14472A>C (p.Ile4824=)
|
rs794729603
|
|
|
NM_001267550.2(TTN):c.14493T>C (p.Asp4831=)
|
|
|
|
NM_001267550.2(TTN):c.14514A>G (p.Ser4838=)
|
rs2154314479
|
|
|
NM_001267550.2(TTN):c.14532C>T (p.Ser4844=)
|
rs977012928
|
|
|
NM_001267550.2(TTN):c.14553T>C (p.Ile4851=)
|
|
|
|
NM_001267550.2(TTN):c.14568C>T (p.Asn4856=)
|
rs774681207
|
|
|
NM_001267550.2(TTN):c.14583T>C (p.Asp4861=)
|
rs1317422659
|
|
|
NM_001267550.2(TTN):c.14616G>A (p.Lys4872=)
|
rs771719584
|
|
|
NM_001267550.2(TTN):c.14640A>G (p.Ala4880=)
|
|
|
|
NM_001267550.2(TTN):c.14643G>A (p.Glu4881=)
|
rs781644443
|
|
|
NM_001267550.2(TTN):c.14649C>A (p.Ile4883=)
|
|
|
|
NM_001267550.2(TTN):c.14703C>T (p.Ile4901=)
|
rs199908911
|
|
|
NM_001267550.2(TTN):c.14760G>A (p.Thr4920=)
|
|
|
|
NM_001267550.2(TTN):c.14772T>C (p.Asp4924=)
|
|
|
|
NM_001267550.2(TTN):c.14775G>A (p.Gly4925=)
|
rs755413215
|
|
|
NM_001267550.2(TTN):c.14775G>C (p.Gly4925=)
|
rs755413215
|
|
|
NM_001267550.2(TTN):c.14784C>G (p.Leu4928=)
|
|
|
|
NM_001267550.2(TTN):c.14784C>T (p.Leu4928=)
|
rs373875040
|
|
|
NM_001267550.2(TTN):c.14788C>A (p.Pro4930Thr)
|
rs201744218
|
|
|
NM_001267550.2(TTN):c.14799T>C (p.Asp4933=)
|
|
|
|
NM_001267550.2(TTN):c.14850C>T (p.Ala4950=)
|
rs376339761
|
|
|
NM_001267550.2(TTN):c.14854C>T (p.Leu4952=)
|
rs781546825
|
|
|
NM_001267550.2(TTN):c.14865A>G (p.Ser4955=)
|
|
|
|
NM_001267550.2(TTN):c.14871C>A (p.Thr4957=)
|
rs779268926
|
|
|
NM_001267550.2(TTN):c.14871C>T (p.Thr4957=)
|
rs779268926
|
|
|
NM_001267550.2(TTN):c.14874T>C (p.Tyr4958=)
|
|
|
|
NM_001267550.2(TTN):c.14931C>A (p.Val4977=)
|
rs1447072234
|
|
|
NM_001267550.2(TTN):c.14931C>G (p.Val4977=)
|
|
|
|
NM_001267550.2(TTN):c.14932A>C (p.Arg4978=)
|
rs762017458
|
|
|
NM_001267550.2(TTN):c.14935+17T>C
|
|
|
|
NM_001267550.2(TTN):c.14936-13A>G
|
|
|
|
NM_001267550.2(TTN):c.14936-15G>C
|
|
|
|
NM_001267550.2(TTN):c.14936-18T>C
|
rs1578219425
|
|
|
NM_001267550.2(TTN):c.14982C>T (p.Leu4994=)
|
rs2154313291
|
|
|
NM_001267550.2(TTN):c.14985A>C (p.Pro4995=)
|
rs760725256
|
|
|
NM_001267550.2(TTN):c.14985A>G (p.Pro4995=)
|
|
|
|
NM_001267550.2(TTN):c.15009C>T (p.Cys5003=)
|
|
|
|
NM_001267550.2(TTN):c.1506G>A (p.Lys502=)
|
rs757142612
|
|
|
NM_001267550.2(TTN):c.150T>G (p.Thr50=)
|
rs2154359873
|
|
|
NM_001267550.2(TTN):c.15108G>A (p.Glu5036=)
|
|
|
|
NM_001267550.2(TTN):c.15129T>C (p.Asp5043=)
|
rs2081155591
|
|
|
NM_001267550.2(TTN):c.15132A>G (p.Val5044=)
|
|
|
|
NM_001267550.2(TTN):c.15159A>G (p.Ser5053=)
|
rs2154313030
|
|
|
NM_001267550.2(TTN):c.1515G>A (p.Gln505=)
|
|
|
|
NM_001267550.2(TTN):c.151C>T (p.Leu51=)
|
rs397517489
|
|
|
NM_001267550.2(TTN):c.15217+20A>G
|
|
|
|
NM_001267550.2(TTN):c.15218-15T>C
|
|
|
|
NM_001267550.2(TTN):c.15218-17C>A
|
|
|
|
NM_001267550.2(TTN):c.15218-19T>A
|
|
|
|
NM_001267550.2(TTN):c.15218-20dup
|
|
|
|
NM_001267550.2(TTN):c.15218-7T>G
|
|
|
|
NM_001267550.2(TTN):c.15222T>G (p.Pro5074=)
|
rs2154312693
|
|
|
NM_001267550.2(TTN):c.15246G>A (p.Glu5082=)
|
|
|
|
NM_001267550.2(TTN):c.15252A>C (p.Ala5084=)
|
|
|
|
NM_001267550.2(TTN):c.15267A>T (p.Gly5089=)
|
|
|
|
NM_001267550.2(TTN):c.15277C>T (p.Leu5093=)
|
rs764663290
|
|
|
NM_001267550.2(TTN):c.15285G>A (p.Gln5095=)
|
|
|
|
NM_001267550.2(TTN):c.15321C>T (p.Ser5107=)
|
|
|
|
NM_001267550.2(TTN):c.15339A>G (p.Lys5113=)
|
rs923024807
|
|
|
NM_001267550.2(TTN):c.15346C>A (p.Arg5116=)
|
|
|
|
NM_001267550.2(TTN):c.15351T>C (p.Ser5117=)
|
|
|
|
NM_001267550.2(TTN):c.15354T>C (p.Ser5118=)
|
rs964395276
|
|
|
NM_001267550.2(TTN):c.15366A>G (p.Arg5122=)
|
|
|
|
NM_001267550.2(TTN):c.1537-19C>A
|
|
|
|
NM_001267550.2(TTN):c.15384T>C (p.Ser5128=)
|
rs1578210544
|
|
|
NM_001267550.2(TTN):c.15387T>C (p.Leu5129=)
|
|
|
|
NM_001267550.2(TTN):c.15402C>A (p.Ile5134=)
|
|
|
|
NM_001267550.2(TTN):c.15420A>C (p.Ala5140=)
|
|
|
|
NM_001267550.2(TTN):c.15435T>C (p.Tyr5145=)
|
rs1560836521
|
|
|
NM_001267550.2(TTN):c.15459C>G (p.Val5153=)
|
|
|
|
NM_001267550.2(TTN):c.15489A>G (p.Leu5163=)
|
rs2154312230
|
|
|
NM_001267550.2(TTN):c.15492C>G (p.Leu5164=)
|
|
|
|
NM_001267550.2(TTN):c.15496+17C>T
|
|
|
|
NM_001267550.2(TTN):c.15496+20A>G
|
|
|
|
NM_001267550.2(TTN):c.15496+20del
|
|
|
|
NM_001267550.2(TTN):c.15496+7G>T
|
rs746995346
|
|
|
NM_001267550.2(TTN):c.15497-14C>T
|
|
|
|
NM_001267550.2(TTN):c.15497-5A>T
|
|
|
|
NM_001267550.2(TTN):c.15497-7T>C
|
rs886042782
|
|
|
NM_001267550.2(TTN):c.15497-8T>C
|
rs727505010
|
|
|
NM_001267550.2(TTN):c.15497-9C>T
|
rs960578150
|
|
|
NM_001267550.2(TTN):c.15501T>C (p.Pro5167=)
|
|
|
|
NM_001267550.2(TTN):c.15507C>T (p.Thr5169=)
|
rs886042124
|
|
|
NM_001267550.2(TTN):c.15513A>G (p.Val5171=)
|
|
|
|
NM_001267550.2(TTN):c.1551T>C (p.Thr517=)
|
|
|
|
NM_001267550.2(TTN):c.15570T>C (p.Ala5190=)
|
|
|
|
NM_001267550.2(TTN):c.1560A>G (p.Thr520=)
|
rs2154354699
|
|
|
NM_001267550.2(TTN):c.15625A>C (p.Arg5209=)
|
rs1392727449
|
|
|
NM_001267550.2(TTN):c.15672C>T (p.Val5224=)
|
|
|
|
NM_001267550.2(TTN):c.156C>G (p.Pro52=)
|
rs72647842
|
|
|
NM_001267550.2(TTN):c.15705A>G (p.Gly5235=)
|
|
|
|
NM_001267550.2(TTN):c.15723G>A (p.Leu5241=)
|
rs2080942432
|
|
|
NM_001267550.2(TTN):c.1572G>A (p.Lys524=)
|
|
|
|
NM_001267550.2(TTN):c.1575A>T (p.Val525=)
|
rs2154354688
|
|
|
NM_001267550.2(TTN):c.15775+14C>A
|
rs151057960
|
|
|
NM_001267550.2(TTN):c.15775+7G>A
|
rs951426984
|
|
|
NM_001267550.2(TTN):c.15776-16T>G
|
|
|
|
NM_001267550.2(TTN):c.15776-18T>C
|
|
|
|
NM_001267550.2(TTN):c.15776-20_15776-17del
|
rs1214115001
|
|
|
NM_001267550.2(TTN):c.15776-4G>A
|
|
|
|
NM_001267550.2(TTN):c.15776-7A>G
|
|
|
|
NM_001267550.2(TTN):c.15789C>T (p.Ile5263=)
|
rs72648933
|
|
|
NM_001267550.2(TTN):c.15804A>G (p.Glu5268=)
|
rs1395584920
|
|
|
NM_001267550.2(TTN):c.15822A>G (p.Ala5274=)
|
|
|
|
NM_001267550.2(TTN):c.15834C>T (p.Ala5278=)
|
rs2154311375
|
|
|
NM_001267550.2(TTN):c.15840G>A (p.Leu5280=)
|
|
|
|
NM_001267550.2(TTN):c.15870G>A (p.Leu5290=)
|
rs879085455
|
|
|
NM_001267550.2(TTN):c.15876C>T (p.Pro5292=)
|
rs2154311342
|
|
|
NM_001267550.2(TTN):c.15896G>C (p.Arg5299Thr)
|
rs563456537
|
|
|
NM_001267550.2(TTN):c.15924A>C (p.Arg5308=)
|
|
|
|
NM_001267550.2(TTN):c.15942T>C (p.Asn5314=)
|
rs1311178060
|
|
|
NM_001267550.2(TTN):c.15948C>G (p.Ala5316=)
|
|
|
|
NM_001267550.2(TTN):c.15948C>T (p.Ala5316=)
|
rs2154311282
|
|
|
NM_001267550.2(TTN):c.15969T>A (p.Ala5323=)
|
|
|
|
NM_001267550.2(TTN):c.15975G>T (p.Leu5325=)
|
|
|
|
NM_001267550.2(TTN):c.15990A>G (p.Gln5330=)
|
|
|
|
NM_001267550.2(TTN):c.15993C>T (p.Tyr5331=)
|
rs939269142
|
|
|
NM_001267550.2(TTN):c.15996A>G (p.Thr5332=)
|
rs756168342
|
|
|
NM_001267550.2(TTN):c.16005T>A (p.Ile5335=)
|
rs2154311214
|
|
|
NM_001267550.2(TTN):c.16041A>G (p.Thr5347=)
|
rs879096918
|
|
|
NM_001267550.2(TTN):c.16044C>T (p.Phe5348=)
|
|
|
|
NM_001267550.2(TTN):c.16054+20G>C
|
|
|
|
NM_001267550.2(TTN):c.16055-15T>C
|
|
|
|
NM_001267550.2(TTN):c.16055-20C>T
|
|
|
|
NM_001267550.2(TTN):c.16062C>T (p.Asp5354=)
|
|
|
|
NM_001267550.2(TTN):c.16125A>G (p.Arg5375=)
|
|
|
|
NM_001267550.2(TTN):c.16126C>T (p.Leu5376=)
|
rs72648936
|
|
|
NM_001267550.2(TTN):c.16155C>T (p.Pro5385=)
|
rs762536528
|
|
|
NM_001267550.2(TTN):c.16176G>A (p.Lys5392=)
|
|
|
|
NM_001267550.2(TTN):c.16236C>G (p.Ala5412=)
|
|
|
|
NM_001267550.2(TTN):c.16257A>G (p.Val5419=)
|
|
|
|
NM_001267550.2(TTN):c.16272A>G (p.Ala5424=)
|
|
|
|
NM_001267550.2(TTN):c.16275G>A (p.Gly5425=)
|
rs772821743
|
|
|
NM_001267550.2(TTN):c.16293C>T (p.Ala5431=)
|
rs2154310693
|
|
|
NM_001267550.2(TTN):c.16302C>A (p.Ser5434=)
|
rs370615208
|
|
|
NM_001267550.2(TTN):c.16317C>T (p.Asp5439=)
|
|
|
|
NM_001267550.2(TTN):c.16326A>T (p.Gly5442=)
|
|
|
|
NM_001267550.2(TTN):c.1632T>G (p.Thr544=)
|
rs2093537126
|
|
|
NM_001267550.2(TTN):c.16330C>T (p.Leu5444=)
|
rs770637793
|
|
|
NM_001267550.2(TTN):c.16335T>A (p.Ile5445=)
|
|
|
|
NM_001267550.2(TTN):c.16338G>A (p.Val5446=)
|
|
|
|
NM_001267550.2(TTN):c.16342+15_16342+16del
|
|
|
|
NM_001267550.2(TTN):c.16342+19A>G
|
rs995083938
|
|
|
NM_001267550.2(TTN):c.16342+7T>A
|
rs2154310625
|
|
|
NM_001267550.2(TTN):c.16342+8G>A
|
rs1578188351
|
|
|
NM_001267550.2(TTN):c.16343-4T>G
|
|
|
|
NM_001267550.2(TTN):c.16343-6C>G
|
|
|
|
NM_001267550.2(TTN):c.16377G>A (p.Lys5459=)
|
rs2154310500
|
|
|
NM_001267550.2(TTN):c.16386G>A (p.Leu5462=)
|
|
|
|
NM_001267550.2(TTN):c.16428T>A (p.Ser5476=)
|
|
|
|
NM_001267550.2(TTN):c.16440A>G (p.Thr5480=)
|
rs763831832
|
|
|
NM_001267550.2(TTN):c.16470G>T (p.Leu5490=)
|
|
|
|
NM_001267550.2(TTN):c.16482A>C (p.Gly5494=)
|
|
|
|
NM_001267550.2(TTN):c.16497C>T (p.Thr5499=)
|
|
|
|
NM_001267550.2(TTN):c.16527C>T (p.Leu5509=)
|
rs2154310383
|
|
|
NM_001267550.2(TTN):c.16542C>T (p.Thr5514=)
|
rs2154310371
|
|
|
NM_001267550.2(TTN):c.16560C>T (p.Tyr5520=)
|
rs772540129
|
|
|
NM_001267550.2(TTN):c.16563A>C (p.Thr5521=)
|
rs886055297
|
|
|
NM_001267550.2(TTN):c.16563A>T (p.Thr5521=)
|
rs886055297
|
|
|
NM_001267550.2(TTN):c.16584T>C (p.Ala5528=)
|
|
|
|
NM_001267550.2(TTN):c.165G>A (p.Gln55=)
|
rs1561527314
|
|
|
NM_001267550.2(TTN):c.16617A>T (p.Val5539=)
|
|
|
|
NM_001267550.2(TTN):c.1662+8T>C
|
rs777742869
|
|
|
NM_001267550.2(TTN):c.16621+20C>T
|
|
|
|
NM_001267550.2(TTN):c.16621+7A>G
|
|
|
|
NM_001267550.2(TTN):c.16621+8T>C
|
rs1057524119
|
|
|
NM_001267550.2(TTN):c.16622-16TTCC[2]
|
|
|
|
NM_001267550.2(TTN):c.16622-4A>G
|
rs2080694790
|
|
|
NM_001267550.2(TTN):c.16622-5C>G
|
|
|
|
NM_001267550.2(TTN):c.1663-12T>C
|
|
|
|
NM_001267550.2(TTN):c.1663-15T>C
|
|
|
|
NM_001267550.2(TTN):c.1663-9A>C
|
|
|
|
NM_001267550.2(TTN):c.16645T>C (p.Leu5549=)
|
|
|
|
NM_001267550.2(TTN):c.16656A>C (p.Ser5552=)
|
|
|
|
NM_001267550.2(TTN):c.16671G>A (p.Lys5557=)
|
|
|
|
NM_001267550.2(TTN):c.16680C>T (p.Ala5560=)
|
|
|
|
NM_001267550.2(TTN):c.16683C>T (p.Thr5561=)
|
|
|
|
NM_001267550.2(TTN):c.16728A>G (p.Thr5576=)
|
rs2080674761
|
|
|
NM_001267550.2(TTN):c.16761C>T (p.Ser5587=)
|
|
|
|
NM_001267550.2(TTN):c.16767A>G (p.Lys5589=)
|
|
|
|
NM_001267550.2(TTN):c.16782T>C (p.Phe5594=)
|
|
|
|
NM_001267550.2(TTN):c.16854C>A (p.Ala5618=)
|
rs769489900
|
|
|
NM_001267550.2(TTN):c.16878C>T (p.His5626=)
|
|
|
|
NM_001267550.2(TTN):c.16893A>C (p.Val5631=)
|
rs757393270
|
|
|
NM_001267550.2(TTN):c.1689T>A (p.Ala563=)
|
|
|
|
NM_001267550.2(TTN):c.16903+16G>T
|
|
|
|
NM_001267550.2(TTN):c.16903+18C>T
|
|
|
|
NM_001267550.2(TTN):c.16904-15C>T
|
|
|
|
NM_001267550.2(TTN):c.16904-4G>A
|
rs778611530
|
|
|
NM_001267550.2(TTN):c.16904-7A>G
|
|
|
|
NM_001267550.2(TTN):c.16917T>C (p.Phe5639=)
|
|
|
|
NM_001267550.2(TTN):c.1692A>G (p.Ala564=)
|
|
|
|
NM_001267550.2(TTN):c.16971G>A (p.Leu5657=)
|
|
|
|
NM_001267550.2(TTN):c.16971G>T (p.Leu5657=)
|
|
|
|
NM_001267550.2(TTN):c.17019T>C (p.Asp5673=)
|
rs1018272067
|
|
|
NM_001267550.2(TTN):c.17032C>A (p.Arg5678=)
|
rs1199616569
|
|
|
NM_001267550.2(TTN):c.17043A>G (p.Arg5681=)
|
|
|
|
NM_001267550.2(TTN):c.17073G>A (p.Leu5691=)
|
rs2154309618
|
|
|
NM_001267550.2(TTN):c.17079C>T (p.Ser5693=)
|
rs372588069
|
|
|
NM_001267550.2(TTN):c.1707T>C (p.Val569=)
|
|
|
|
NM_001267550.2(TTN):c.17088C>T (p.Ile5696=)
|
|
|
|
NM_001267550.2(TTN):c.17106A>T (p.Ala5702=)
|
|
|
|
NM_001267550.2(TTN):c.17115C>G (p.Gly5705=)
|
rs370036981
|
|
|
NM_001267550.2(TTN):c.17127T>C (p.Cys5709=)
|
rs2154309574
|
|
|
NM_001267550.2(TTN):c.17133G>A (p.Val5711=)
|
|
|
|
NM_001267550.2(TTN):c.17160C>T (p.Cys5720=)
|
rs972381308
|
|
|
NM_001267550.2(TTN):c.17182+14C>A
|
|
|
|
NM_001267550.2(TTN):c.17182+17G>C
|
|
|
|
NM_001267550.2(TTN):c.17182+18T>G
|
rs758899121
|
|
|
NM_001267550.2(TTN):c.17183-10C>A
|
|
|
|
NM_001267550.2(TTN):c.17183-15T>G
|
rs2154309423
|
|
|
NM_001267550.2(TTN):c.17183-16T>A
|
|
|
|
NM_001267550.2(TTN):c.17183-5G>A
|
rs1553924621
|
|
|
NM_001267550.2(TTN):c.17183-5G>T
|
|
|
|
NM_001267550.2(TTN):c.17187C>G (p.Pro5729=)
|
|
|
|
NM_001267550.2(TTN):c.17187C>T (p.Pro5729=)
|
|
|
|
NM_001267550.2(TTN):c.17190A>G (p.Pro5730=)
|
|
|
|
NM_001267550.2(TTN):c.17208C>T (p.Ile5736=)
|
rs397517484
|
|
|
NM_001267550.2(TTN):c.17217C>T (p.Thr5739=)
|
rs1553924564
|
|
|
NM_001267550.2(TTN):c.17226C>T (p.Leu5742=)
|
rs2154309349
|
|
|
NM_001267550.2(TTN):c.17232A>G (p.Gly5744=)
|
|
|
|
NM_001267550.2(TTN):c.17235C>G (p.Gly5745=)
|
|
|
|
NM_001267550.2(TTN):c.17241T>C (p.Ala5747=)
|
|
|
|
NM_001267550.2(TTN):c.17259G>A (p.Leu5753=)
|
rs1060503934
|
|
|
NM_001267550.2(TTN):c.17268C>T (p.Ser5756=)
|
|
|
|
NM_001267550.2(TTN):c.17274A>G (p.Pro5758=)
|
rs1389532263
|
|
|
NM_001267550.2(TTN):c.17298C>T (p.Asp5766=)
|
|
|
|
NM_001267550.2(TTN):c.17331A>G (p.Arg5777=)
|
|
|
|
NM_001267550.2(TTN):c.17337C>G (p.Thr5779=)
|
rs763117242
|
|
|
NM_001267550.2(TTN):c.17382C>G (p.Val5794=)
|
rs946342761
|
|
|
NM_001267550.2(TTN):c.17385G>A (p.Lys5795=)
|
|
|
|
NM_001267550.2(TTN):c.17391T>C (p.Asp5797=)
|
rs1446727042
|
|
|
NM_001267550.2(TTN):c.17409G>A (p.Gln5803=)
|
rs914726368
|
|
|
NM_001267550.2(TTN):c.17427A>G (p.Gly5809=)
|
|
|
|
NM_001267550.2(TTN):c.17442T>G (p.Ser5814=)
|
rs770532942
|
|
|
NM_001267550.2(TTN):c.17445A>C (p.Ala5815=)
|
|
|
|
NM_001267550.2(TTN):c.17461+12A>T
|
|
|
|
NM_001267550.2(TTN):c.17461+13C>T
|
|
|
|
NM_001267550.2(TTN):c.17461+8C>T
|
|
|
|
NM_001267550.2(TTN):c.17462-11G>C
|
|
|
|
NM_001267550.2(TTN):c.17462-17C>T
|
|
|
|
NM_001267550.2(TTN):c.17462-20T>C
|
rs747021830
|
|
|
NM_001267550.2(TTN):c.17487T>C (p.Ala5829=)
|
rs2154308954
|
|
|
NM_001267550.2(TTN):c.17499T>C (p.Asp5833=)
|
|
|
|
NM_001267550.2(TTN):c.17517A>C (p.Pro5839=)
|
rs2154308917
|
|
|
NM_001267550.2(TTN):c.17523T>C (p.Thr5841=)
|
|
|
|
NM_001267550.2(TTN):c.1752A>G (p.Gln584=)
|
|
|
|
NM_001267550.2(TTN):c.17559A>G (p.Thr5853=)
|
rs2154308870
|
|
|
NM_001267550.2(TTN):c.17559A>T (p.Thr5853=)
|
|
|
|
NM_001267550.2(TTN):c.17580C>T (p.Gly5860=)
|
|
|
|
NM_001267550.2(TTN):c.17592C>T (p.Thr5864=)
|
rs1481239026
|
|
|
NM_001267550.2(TTN):c.17593C>T (p.Leu5865=)
|
rs1255975692
|
|
|
NM_001267550.2(TTN):c.17595G>A (p.Leu5865=)
|
rs2154308833
|
|
|
NM_001267550.2(TTN):c.17604A>G (p.Lys5868=)
|
rs2154308822
|
|
|
NM_001267550.2(TTN):c.17610A>G (p.Lys5870=)
|
rs2154308817
|
|
|
NM_001267550.2(TTN):c.17616T>C (p.Ser5872=)
|
|
|
|
NM_001267550.2(TTN):c.17619C>A (p.Val5873=)
|
|
|
|
NM_001267550.2(TTN):c.17622T>C (p.Thr5874=)
|
|
|
|
NM_001267550.2(TTN):c.17622T>G (p.Thr5874=)
|
rs559877209
|
|
|
NM_001267550.2(TTN):c.17634A>G (p.Ser5878=)
|
|
|
|
NM_001267550.2(TTN):c.17638C>T (p.Leu5880=)
|
rs1414423068
|
|
|
NM_001267550.2(TTN):c.1764C>T (p.Thr588=)
|
|
|
|
NM_001267550.2(TTN):c.17688G>A (p.Glu5896=)
|
|
|
|
NM_001267550.2(TTN):c.17700T>C (p.Asp5900=)
|
|
|
|
NM_001267550.2(TTN):c.1770A>G (p.Gln590=)
|
|
|
|
NM_001267550.2(TTN):c.17718C>T (p.Cys5906=)
|
|
|
|
NM_001267550.2(TTN):c.17736A>G (p.Val5912=)
|
rs1248076023
|
|
|
NM_001267550.2(TTN):c.17740+13del
|
|
|
|
NM_001267550.2(TTN):c.17740+7A>G
|
rs2080364920
|
|
|
NM_001267550.2(TTN):c.17741-16C>T
|
|
|
|
NM_001267550.2(TTN):c.17741-27GTT[2]
|
|
|
|
NM_001267550.2(TTN):c.17757T>C (p.Pro5919=)
|
rs2080316192
|
|
|
NM_001267550.2(TTN):c.17781A>G (p.Lys5927=)
|
|
|
|
NM_001267550.2(TTN):c.17787C>T (p.Asp5929=)
|
rs1227964604
|
|
|
NM_001267550.2(TTN):c.17790C>T (p.Ser5930=)
|
|
|
|
NM_001267550.2(TTN):c.17847C>T (p.Ser5949=)
|
|
|
|
NM_001267550.2(TTN):c.17853G>A (p.Gln5951=)
|
rs746419315
|
|
|
NM_001267550.2(TTN):c.17868C>T (p.Asp5956=)
|
rs879248826
|
|
|
NM_001267550.2(TTN):c.17898A>G (p.Lys5966=)
|
|
|
|
NM_001267550.2(TTN):c.1794T>C (p.Tyr598=)
|
|
|
|
NM_001267550.2(TTN):c.17961G>A (p.Gly5987=)
|
|
|
|
NM_001267550.2(TTN):c.17967C>T (p.Tyr5989=)
|
|
|
|
NM_001267550.2(TTN):c.1800+11C>T
|
|
|
|
NM_001267550.2(TTN):c.1800+17A>G
|
rs1048882977
|
|
|
NM_001267550.2(TTN):c.1800+18A>G
|
|
|
|
NM_001267550.2(TTN):c.1800+8C>A
|
|
|
|
NM_001267550.2(TTN):c.1800+8C>G
|
|
|
|
NM_001267550.2(TTN):c.1800+9T>G
|
rs1012796976
|
|
|
NM_001267550.2(TTN):c.18003A>G (p.Gln6001=)
|
rs142833401
|
|
|
NM_001267550.2(TTN):c.1801-17T>C
|
rs2154353687
|
|
|
NM_001267550.2(TTN):c.1801-7T>C
|
rs775380629
|
|
|
NM_001267550.2(TTN):c.18028+15T>C
|
|
|
|
NM_001267550.2(TTN):c.18028+20A>G
|
rs2154308186
|
|
|
NM_001267550.2(TTN):c.18028+20A>T
|
rs2154308186
|
|
|
NM_001267550.2(TTN):c.18028+9A>C
|
|
|
|
NM_001267550.2(TTN):c.18028+9del
|
rs762719446
|
|
|
NM_001267550.2(TTN):c.18029-12C>A
|
rs1434764564
|
|
|
NM_001267550.2(TTN):c.18029-12C>G
|
|
|
|
NM_001267550.2(TTN):c.18029-20_18029-19delinsCC
|
rs2080233713
|
|
|
NM_001267550.2(TTN):c.18029-5C>T
|
rs2080227269
|
|
|
NM_001267550.2(TTN):c.18029-8C>G
|
rs2154308111
|
|
|
NM_001267550.2(TTN):c.18033C>A (p.Pro6011=)
|
|
|
|
NM_001267550.2(TTN):c.18045G>T (p.Val6015=)
|
rs1013393173
|
|
|
NM_001267550.2(TTN):c.18063A>G (p.Gln6021=)
|
|
|
|
NM_001267550.2(TTN):c.18066T>C (p.Asp6022=)
|
|
|
|
NM_001267550.2(TTN):c.18075C>A (p.Pro6025=)
|
rs557350005
|
|
|
NM_001267550.2(TTN):c.18078C>T (p.Asn6026=)
|
rs1578149449
|
|
|
NM_001267550.2(TTN):c.18096G>A (p.Lys6032=)
|
|
|
|
NM_001267550.2(TTN):c.18114T>C (p.Thr6038=)
|
rs1221916366
|
|
|
NM_001267550.2(TTN):c.18132G>A (p.Lys6044=)
|
|
|
|
NM_001267550.2(TTN):c.18144T>C (p.Asp6048=)
|
rs2154308002
|
|
|
NM_001267550.2(TTN):c.18205C>T (p.Leu6069=)
|
|
|
|
NM_001267550.2(TTN):c.18207A>T (p.Leu6069=)
|
|
|
|
NM_001267550.2(TTN):c.18249T>C (p.Ile6083=)
|
rs1057522780
|
|
|
NM_001267550.2(TTN):c.18258A>G (p.Leu6086=)
|
|
|
|
NM_001267550.2(TTN):c.18264T>C (p.Asn6088=)
|
rs748182054
|
|
|
NM_001267550.2(TTN):c.18276A>G (p.Thr6092=)
|
rs751657803
|
|
|
NM_001267550.2(TTN):c.18279A>T (p.Ala6093=)
|
|
|
|
NM_001267550.2(TTN):c.18303A>G (p.Val6101=)
|
rs1334337532
|
|
|
NM_001267550.2(TTN):c.18303A>T (p.Val6101=)
|
|
|
|
NM_001267550.2(TTN):c.18307+14A>G
|
|
|
|
NM_001267550.2(TTN):c.18307+20T>G
|
|
|
|
NM_001267550.2(TTN):c.18307+8C>T
|
|
|
|
NM_001267550.2(TTN):c.18308-16C>A
|
rs2080100319
|
|
|
NM_001267550.2(TTN):c.18308-4T>A
|
|
|
|
NM_001267550.2(TTN):c.18308-4T>G
|
|
|
|
NM_001267550.2(TTN):c.18308-8A>T
|
|
|
|
NM_001267550.2(TTN):c.18318A>G (p.Gln6106=)
|
|
|
|
NM_001267550.2(TTN):c.18348G>A (p.Val6116=)
|
|
|
|
NM_001267550.2(TTN):c.18372A>G (p.Thr6124=)
|
|
|
|
NM_001267550.2(TTN):c.183C>G (p.Gly61=)
|
|
|
|
NM_001267550.2(TTN):c.18468C>T (p.Phe6156=)
|
rs886043405
|
|
|
NM_001267550.2(TTN):c.1848C>T (p.Ala616=)
|
|
|
|
NM_001267550.2(TTN):c.18504C>T (p.Ala6168=)
|
|
|
|
NM_001267550.2(TTN):c.18516T>C (p.Asn6172=)
|
rs1437976464
|
|
|
NM_001267550.2(TTN):c.18525T>G (p.Thr6175=)
|
|
|
|
NM_001267550.2(TTN):c.18552A>T (p.Ala6184=)
|
rs2080057937
|
|
|
NM_001267550.2(TTN):c.18561G>C (p.Ala6187=)
|
|
|
|
NM_001267550.2(TTN):c.18570C>T (p.Ser6190=)
|
|
|
|
NM_001267550.2(TTN):c.18585G>A (p.Val6195=)
|
|
|
|
NM_001267550.2(TTN):c.18589+10T>G
|
|
|
|
NM_001267550.2(TTN):c.18589+11G>C
|
rs2154307478
|
|
|
NM_001267550.2(TTN):c.18590-16C>A
|
|
|
|
NM_001267550.2(TTN):c.18590-19C>A
|
|
|
|
NM_001267550.2(TTN):c.18590-20T>C
|
|
|
|
NM_001267550.2(TTN):c.18590-4T>G
|
rs2154307389
|
|
|
NM_001267550.2(TTN):c.18591A>G (p.Glu6197=)
|
rs999871371
|
|
|
NM_001267550.2(TTN):c.18597C>T (p.Pro6199=)
|
rs753370006
|
|
|
NM_001267550.2(TTN):c.18612G>A (p.Glu6204=)
|
rs2154307365
|
|
|
NM_001267550.2(TTN):c.18630A>C (p.Val6210=)
|
rs762940490
|
|
|
NM_001267550.2(TTN):c.18633A>T (p.Val6211=)
|
|
|
|
NM_001267550.2(TTN):c.18639T>C (p.Tyr6213=)
|
rs1578138382
|
|
|
NM_001267550.2(TTN):c.18642T>C (p.Ser6214=)
|
|
|
|
NM_001267550.2(TTN):c.18654G>C (p.Leu6218=)
|
|
|
|
NM_001267550.2(TTN):c.18678T>A (p.Pro6226=)
|
rs777313455
|
|
|
NM_001267550.2(TTN):c.18690C>T (p.Val6230=)
|
rs754536598
|
|
|
NM_001267550.2(TTN):c.18705T>C (p.Asn6235=)
|
rs766055257
|
|
|
NM_001267550.2(TTN):c.18714A>G (p.Glu6238=)
|
|
|
|
NM_001267550.2(TTN):c.18720A>T (p.Arg6240=)
|
rs201395913
|
|
|
NM_001267550.2(TTN):c.1872T>C (p.Asp624=)
|
rs2154353628
|
|
|
NM_001267550.2(TTN):c.18735C>T (p.Tyr6245=)
|
|
|
|
NM_001267550.2(TTN):c.18753G>A (p.Val6251=)
|
|
|
|
NM_001267550.2(TTN):c.18759G>A (p.Val6253=)
|
|
|
|
NM_001267550.2(TTN):c.18771T>C (p.His6257=)
|
|
|
|
NM_001267550.2(TTN):c.1878A>G (p.Val626=)
|
rs761672925
|
|
|
NM_001267550.2(TTN):c.18807C>T (p.Tyr6269=)
|
rs189167196
|
|
|
NM_001267550.2(TTN):c.18810G>A (p.Gln6270=)
|
rs727505012
|
|
|
NM_001267550.2(TTN):c.18831C>A (p.Gly6277=)
|
|
|
|
NM_001267550.2(TTN):c.18868+17G>T
|
rs922396967
|
|
|
NM_001267550.2(TTN):c.18868+20G>A
|
|
|
|
NM_001267550.2(TTN):c.18869-14_18869-13del
|
|
|
|
NM_001267550.2(TTN):c.18869-16T>G
|
|
|
|
NM_001267550.2(TTN):c.18869-17C>G
|
|
|
|
NM_001267550.2(TTN):c.18869-8A>C
|
|
|
|
NM_001267550.2(TTN):c.18927C>T (p.Ala6309=)
|
rs370013727
|
|
|
NM_001267550.2(TTN):c.18930C>G (p.Thr6310=)
|
|
|
|
NM_001267550.2(TTN):c.18933T>C (p.Phe6311=)
|
|
|
|
NM_001267550.2(TTN):c.18942C>A (p.Thr6314=)
|
|
|
|
NM_001267550.2(TTN):c.18942C>G (p.Thr6314=)
|
rs572285982
|
|
|
NM_001267550.2(TTN):c.18960T>C (p.Pro6320=)
|
|
|
|
NM_001267550.2(TTN):c.18987T>C (p.Asp6329=)
|
|
|
|
NM_001267550.2(TTN):c.18996T>G (p.Leu6332=)
|
rs2154306872
|
|
|
NM_001267550.2(TTN):c.189T>G (p.Ala63=)
|
rs1057520389
|
|
|
NM_001267550.2(TTN):c.19062G>A (p.Val6354=)
|
rs1578129937
|
|
|
NM_001267550.2(TTN):c.19089C>G (p.Thr6363=)
|
rs2154306832
|
|
|
NM_001267550.2(TTN):c.19110A>G (p.Ser6370=)
|
rs796255119
|
|
|
NM_001267550.2(TTN):c.19113A>C (p.Gly6371=)
|
|
|
|
NM_001267550.2(TTN):c.19128T>C (p.Tyr6376=)
|
|
|
|
NM_001267550.2(TTN):c.19134C>T (p.Phe6378=)
|
|
|
|
NM_001267550.2(TTN):c.19147+13T>A
|
|
|
|
NM_001267550.2(TTN):c.19147+16T>C
|
|
|
|
NM_001267550.2(TTN):c.19147+16del
|
|
|
|
NM_001267550.2(TTN):c.19147+17C>G
|
|
|
|
NM_001267550.2(TTN):c.19148-12T>C
|
|
|
|
NM_001267550.2(TTN):c.19148-17T>C
|
rs2079833035
|
|
|
NM_001267550.2(TTN):c.19161C>T (p.Ile6387=)
|
|
|
|
NM_001267550.2(TTN):c.19173T>G (p.Ala6391=)
|
rs1259684968
|
|
|
NM_001267550.2(TTN):c.1923A>G (p.Gln641=)
|
|
|
|
NM_001267550.2(TTN):c.19242C>G (p.Leu6414=)
|
|
|
|
NM_001267550.2(TTN):c.19293T>C (p.Phe6431=)
|
|
|
|
NM_001267550.2(TTN):c.19311T>C (p.Asn6437=)
|
rs2154306594
|
|
|
NM_001267550.2(TTN):c.19335G>A (p.Gln6445=)
|
|
|
|
NM_001267550.2(TTN):c.19338A>G (p.Ser6446=)
|
|
|
|
NM_001267550.2(TTN):c.19347G>A (p.Lys6449=)
|
rs1553919623
|
|
|
NM_001267550.2(TTN):c.1935G>A (p.Glu645=)
|
rs2093403732
|
|
|
NM_001267550.2(TTN):c.19365C>T (p.Tyr6455=)
|
|
|
|
NM_001267550.2(TTN):c.19368T>C (p.Thr6456=)
|
rs1553919591
|
|
|
NM_001267550.2(TTN):c.19374G>A (p.Lys6458=)
|
|
|
|
NM_001267550.2(TTN):c.1938+14T>A
|
|
|
|
NM_001267550.2(TTN):c.1939-7T>C
|
rs757828396
|
|
|
NM_001267550.2(TTN):c.1939-9A>G
|
rs2154353377
|
|
|
NM_001267550.2(TTN):c.19413C>T (p.Tyr6471=)
|
rs2079776267
|
|
|
NM_001267550.2(TTN):c.19423C>T (p.Leu6475=)
|
|
|
|
NM_001267550.2(TTN):c.19426+14C>A
|
|
|
|
NM_001267550.2(TTN):c.19426+15C>G
|
|
|
|
NM_001267550.2(TTN):c.19427-17C>T
|
|
|
|
NM_001267550.2(TTN):c.19427-9A>G
|
|
|
|
NM_001267550.2(TTN):c.19428T>C (p.Asp6476=)
|
rs1228771607
|
|
|
NM_001267550.2(TTN):c.19446A>G (p.Ser6482=)
|
rs1030612878
|
|
|
NM_001267550.2(TTN):c.19458A>G (p.Lys6486=)
|
|
|
|
NM_001267550.2(TTN):c.19473T>C (p.Asp6491=)
|
rs2154306405
|
|
|
NM_001267550.2(TTN):c.19485C>A (p.Gly6495=)
|
rs780158564
|
|
|
NM_001267550.2(TTN):c.19512G>C (p.Val6504=)
|
rs371112260
|
|
|
NM_001267550.2(TTN):c.19620T>C (p.Val6540=)
|
rs2154306306
|
|
|
NM_001267550.2(TTN):c.19656A>G (p.Thr6552=)
|
|
|
|
NM_001267550.2(TTN):c.19689A>C (p.Ala6563=)
|
rs760099971
|
|
|
NM_001267550.2(TTN):c.19692C>T (p.Cys6564=)
|
|
|
|
NM_001267550.2(TTN):c.19714+10T>G
|
rs2154306251
|
|
|
NM_001267550.2(TTN):c.19715-16C>T
|
|
|
|
NM_001267550.2(TTN):c.19715-18C>A
|
|
|
|
NM_001267550.2(TTN):c.19715-5T>C
|
|
|
|
NM_001267550.2(TTN):c.19731A>G (p.Leu6577=)
|
rs2154306068
|
|
|
NM_001267550.2(TTN):c.19743G>A (p.Gly6581=)
|
|
|
|
NM_001267550.2(TTN):c.19782G>A (p.Lys6594=)
|
|
|
|
NM_001267550.2(TTN):c.19797A>G (p.Gly6599=)
|
|
|
|
NM_001267550.2(TTN):c.19806A>G (p.Pro6602=)
|
|
|
|
NM_001267550.2(TTN):c.1980A>C (p.Ala660=)
|
rs1574857753
|
|
|
NM_001267550.2(TTN):c.1980A>G (p.Ala660=)
|
|
|
|
NM_001267550.2(TTN):c.19839A>G (p.Glu6613=)
|
|
|
|
NM_001267550.2(TTN):c.19848A>G (p.Ser6616=)
|
rs1345701707
|
|
|
NM_001267550.2(TTN):c.19860T>C (p.Cys6620=)
|
|
|
|
NM_001267550.2(TTN):c.19878G>A (p.Gly6626=)
|
|
|
|
NM_001267550.2(TTN):c.19881G>T (p.Ser6627=)
|
rs371495674
|
|
|
NM_001267550.2(TTN):c.19884T>C (p.Thr6628=)
|
rs748254218
|
|
|
NM_001267550.2(TTN):c.19899C>T (p.Leu6633=)
|
rs2154305949
|
|
|
NM_001267550.2(TTN):c.19923T>C (p.Thr6641=)
|
rs367702810
|
|
|
NM_001267550.2(TTN):c.19935T>G (p.Thr6645=)
|
|
|
|
NM_001267550.2(TTN):c.19938C>T (p.Cys6646=)
|
|
|
|
NM_001267550.2(TTN):c.19953T>C (p.Asp6651=)
|
|
|
|
NM_001267550.2(TTN):c.19959T>C (p.Gly6653=)
|
|
|
|
NM_001267550.2(TTN):c.19974T>C (p.Thr6658=)
|
|
|
|
NM_001267550.2(TTN):c.19977G>T (p.Thr6659=)
|
rs1060503954
|
|
|
NM_001267550.2(TTN):c.19993+13G>T
|
rs2154305867
|
|
|
NM_001267550.2(TTN):c.19993+20_19993+29del
|
rs2154305844
|
|
|
NM_001267550.2(TTN):c.19993+8A>G
|
|
|
|
NM_001267550.2(TTN):c.19994-10_19994-7del
|
rs2154305619
|
|
|
NM_001267550.2(TTN):c.19994-19C>T
|
|
|
|
NM_001267550.2(TTN):c.19994-20C>G
|
|
|
|
NM_001267550.2(TTN):c.19994-6C>A
|
rs1578104295
|
|
|
NM_001267550.2(TTN):c.19998A>G (p.Pro6666=)
|
rs1578104149
|
|
|
NM_001267550.2(TTN):c.20028C>T (p.Ser6676=)
|
|
|
|
NM_001267550.2(TTN):c.20058A>C (p.Arg6686=)
|
|
|
|
NM_001267550.2(TTN):c.20112T>C (p.Asn6704=)
|
rs1578102842
|
|
|
NM_001267550.2(TTN):c.20143A>C (p.Arg6715=)
|
|
|
|
NM_001267550.2(TTN):c.20184C>T (p.Asn6728=)
|
|
|
|
NM_001267550.2(TTN):c.20235C>A (p.Pro6745=)
|
rs528625782
|
|
|
NM_001267550.2(TTN):c.20247A>G (p.Thr6749=)
|
|
|
|
NM_001267550.2(TTN):c.20271A>G (p.Val6757=)
|
rs759705680
|
|
|
NM_001267550.2(TTN):c.20275+12G>A
|
|
|
|
NM_001267550.2(TTN):c.20275+8T>C
|
|
|
|
NM_001267550.2(TTN):c.20275+9C>T
|
rs1241874371
|
|
|
NM_001267550.2(TTN):c.20276-4G>A
|
|
|
|
NM_001267550.2(TTN):c.20276-4G>T
|
rs78479497
|
|
|
NM_001267550.2(TTN):c.20286T>G (p.Val6762=)
|
|
|
|
NM_001267550.2(TTN):c.20349A>G (p.Glu6783=)
|
|
|
|
NM_001267550.2(TTN):c.20364A>G (p.Pro6788=)
|
rs2154304597
|
|
|
NM_001267550.2(TTN):c.20367G>A (p.Pro6789=)
|
rs368422028
|
|
|
NM_001267550.2(TTN):c.20379A>G (p.Val6793=)
|
rs1578083859
|
|
|
NM_001267550.2(TTN):c.20403C>A (p.Leu6801=)
|
rs1578083587
|
|
|
NM_001267550.2(TTN):c.20409C>T (p.Ser6803=)
|
rs750465610
|
|
|
NM_001267550.2(TTN):c.20418A>G (p.Lys6806=)
|
rs768932465
|
|
|
NM_001267550.2(TTN):c.20421C>T (p.Tyr6807=)
|
rs2154304578
|
|
|
NM_001267550.2(TTN):c.20454T>C (p.Ile6818=)
|
rs2079252200
|
|
|
NM_001267550.2(TTN):c.20472C>T (p.Asp6824=)
|
rs1418781337
|
|
|
NM_001267550.2(TTN):c.20475T>A (p.Thr6825=)
|
rs2154304547
|
|
|
NM_001267550.2(TTN):c.20496C>T (p.His6832=)
|
rs1282270193
|
|
|
NM_001267550.2(TTN):c.20548T>C (p.Leu6850=)
|
rs1578081741
|
|
|
NM_001267550.2(TTN):c.20554+10G>A
|
|
|
|
NM_001267550.2(TTN):c.20554+10G>C
|
rs1553915945
|
|
|
NM_001267550.2(TTN):c.20554+12T>C
|
|
|
|
NM_001267550.2(TTN):c.20554+18A>G
|
|
|
|
NM_001267550.2(TTN):c.20554+20A>G
|
|
|
|
NM_001267550.2(TTN):c.20554+9A>C
|
rs1060503960
|
|
|
NM_001267550.2(TTN):c.20554+9A>G
|
|
|
|
NM_001267550.2(TTN):c.20555-16A>G
|
|
|
|
NM_001267550.2(TTN):c.20555-18C>T
|
|
|
|
NM_001267550.2(TTN):c.20555-4T>C
|
rs781011511
|
|
|
NM_001267550.2(TTN):c.20555-6G>T
|
|
|
|
NM_001267550.2(TTN):c.20555-7T>C
|
|
|
|
NM_001267550.2(TTN):c.20595T>C (p.Val6865=)
|
|
|
|
NM_001267550.2(TTN):c.20610T>A (p.Pro6870=)
|
|
|
|
NM_001267550.2(TTN):c.20622A>G (p.Gln6874=)
|
|
|
|
NM_001267550.2(TTN):c.20625A>G (p.Ala6875=)
|
|
|
|
NM_001267550.2(TTN):c.20667A>G (p.Lys6889=)
|
|
|
|
NM_001267550.2(TTN):c.20670G>A (p.Glu6890=)
|
rs1553915541
|
|
|
NM_001267550.2(TTN):c.20673G>A (p.Lys6891=)
|
rs1371108599
|
|
|
NM_001267550.2(TTN):c.20736A>G (p.Leu6912=)
|
rs876657600
|
|
|
NM_001267550.2(TTN):c.20745A>C (p.Ala6915=)
|
rs2154304288
|
|
|
NM_001267550.2(TTN):c.20757A>C (p.Pro6919=)
|
rs2154304283
|
|
|
NM_001267550.2(TTN):c.2076+13_2076+15del
|
rs777562481
|
|
|
NM_001267550.2(TTN):c.2076+7A>C
|
|
|
|
NM_001267550.2(TTN):c.2076+7A>G
|
|
|
|
NM_001267550.2(TTN):c.20769A>G (p.Gly6923=)
|
|
|
|
NM_001267550.2(TTN):c.2077-12C>A
|
rs988316772
|
|
|
NM_001267550.2(TTN):c.2077-16G>A
|
rs2154351791
|
|
|
NM_001267550.2(TTN):c.2077-4C>T
|
rs2093161554
|
|
|
NM_001267550.2(TTN):c.20814C>T (p.Asn6938=)
|
rs886043772
|
|
|
NM_001267550.2(TTN):c.20823A>G (p.Thr6941=)
|
|
|
|
NM_001267550.2(TTN):c.20824C>T (p.Leu6942=)
|
rs1346037211
|
|
|
NM_001267550.2(TTN):c.20826G>C (p.Leu6942=)
|
rs2154304248
|
|
|
NM_001267550.2(TTN):c.20836+11T>C
|
|
|
|
NM_001267550.2(TTN):c.20836+17A>G
|
|
|
|
NM_001267550.2(TTN):c.20836+7A>C
|
rs923732569
|
|
|
NM_001267550.2(TTN):c.20837-12G>T
|
|
|
|
NM_001267550.2(TTN):c.20837-20G>T
|
|
|
|
NM_001267550.2(TTN):c.20847C>T (p.Val6949=)
|
|
|
|
NM_001267550.2(TTN):c.20859G>A (p.Lys6953=)
|
|
|
|
NM_001267550.2(TTN):c.20868G>T (p.Pro6956=)
|
|
|
|
NM_001267550.2(TTN):c.20874G>C (p.Thr6958=)
|
|
|
|
NM_001267550.2(TTN):c.2088A>G (p.Gly696=)
|
|
|
|
NM_001267550.2(TTN):c.20892G>C (p.Thr6964=)
|
rs727504623
|
|
|
NM_001267550.2(TTN):c.20895C>T (p.Cys6965=)
|
|
|
|
NM_001267550.2(TTN):c.20901G>A (p.Leu6967=)
|
rs2154303631
|
|
|
NM_001267550.2(TTN):c.20931C>G (p.Leu6977=)
|
|
|
|
NM_001267550.2(TTN):c.2094G>A (p.Lys698=)
|
rs1574821724
|
|
|
NM_001267550.2(TTN):c.20959C>T (p.Leu6987=)
|
|
|
|
NM_001267550.2(TTN):c.20970C>T (p.Ser6990=)
|
|
|
|
NM_001267550.2(TTN):c.20985A>G (p.Lys6995=)
|
rs2154303574
|
|
|
NM_001267550.2(TTN):c.21000C>T (p.Asn7000=)
|
rs2154303562
|
|
|
NM_001267550.2(TTN):c.21012C>T (p.Ser7004=)
|
|
|
|
NM_001267550.2(TTN):c.21045A>G (p.Ala7015=)
|
|
|
|
NM_001267550.2(TTN):c.21051A>C (p.Thr7017=)
|
|
|
|
NM_001267550.2(TTN):c.21051A>G (p.Thr7017=)
|
|
|
|
NM_001267550.2(TTN):c.21051A>T (p.Thr7017=)
|
|
|
|
NM_001267550.2(TTN):c.2106A>T (p.Val702=)
|
|
|
|
NM_001267550.2(TTN):c.21072T>C (p.Asn7024=)
|
|
|
|
NM_001267550.2(TTN):c.21075T>C (p.Asn7025=)
|
|
|
|
NM_001267550.2(TTN):c.21115+10G>A
|
|
|
|
NM_001267550.2(TTN):c.21115+13G>A
|
|
|
|
NM_001267550.2(TTN):c.21115+17T>C
|
|
|
|
NM_001267550.2(TTN):c.21116-17T>A
|
rs2154303373
|
|
|
NM_001267550.2(TTN):c.21116-4del
|
rs1553913568
|
|
|
NM_001267550.2(TTN):c.21116-6A>C
|
|
|
|
NM_001267550.2(TTN):c.21126T>C (p.Val7042=)
|
|
|
|
NM_001267550.2(TTN):c.21147A>G (p.Arg7049=)
|
|
|
|
NM_001267550.2(TTN):c.21162T>C (p.Gly7054=)
|
rs1553913456
|
|
|
NM_001267550.2(TTN):c.21165G>T (p.Gly7055=)
|
|
|
|
NM_001267550.2(TTN):c.21216T>C (p.Pro7072=)
|
rs2154303288
|
|
|
NM_001267550.2(TTN):c.21222A>T (p.Ser7074=)
|
|
|
|
NM_001267550.2(TTN):c.21228C>T (p.Ala7076=)
|
rs2154303274
|
|
|
NM_001267550.2(TTN):c.21237T>C (p.His7079=)
|
|
|
|
NM_001267550.2(TTN):c.21246C>T (p.Thr7082=)
|
rs1553913320
|
|
|
NM_001267550.2(TTN):c.21249G>A (p.Lys7083=)
|
|
|
|
NM_001267550.2(TTN):c.21300A>G (p.Thr7100=)
|
|
|
|
NM_001267550.2(TTN):c.21307T>C (p.Leu7103=)
|
|
|
|
NM_001267550.2(TTN):c.2130C>T (p.Asp710=)
|
rs1001032041
|
|
|
NM_001267550.2(TTN):c.21345A>C (p.Thr7115=)
|
rs758613310
|
|
|
NM_001267550.2(TTN):c.21345A>G (p.Thr7115=)
|
|
|
|
NM_001267550.2(TTN):c.21351G>A (p.Val7117=)
|
|
|
|
NM_001267550.2(TTN):c.21357T>C (p.Ala7119=)
|
|
|
|
NM_001267550.2(TTN):c.21375T>C (p.Asp7125=)
|
|
|
|
NM_001267550.2(TTN):c.2137C>A (p.Arg713=)
|
rs727505277
|
|
|
NM_001267550.2(TTN):c.21381T>C (p.Cys7127=)
|
rs2154303179
|
|
|
NM_001267550.2(TTN):c.21399A>G (p.Val7133=)
|
|
|
|
NM_001267550.2(TTN):c.2139A>T (p.Arg713=)
|
rs1340458399
|
|
|
NM_001267550.2(TTN):c.21403+10C>T
|
rs2154303147
|
|
|
NM_001267550.2(TTN):c.21403+14C>A
|
rs2078868212
|
|
|
NM_001267550.2(TTN):c.21403+7A>G
|
rs2154303156
|
|
|
NM_001267550.2(TTN):c.21403+8G>T
|
|
|
|
NM_001267550.2(TTN):c.21403+9A>G
|
|
|
|
NM_001267550.2(TTN):c.21404-16C>G
|
|
|
|
NM_001267550.2(TTN):c.21404-3dup
|
|
|
|
NM_001267550.2(TTN):c.21404-5T>C
|
|
|
|
NM_001267550.2(TTN):c.21404-6A>C
|
|
|
|
NM_001267550.2(TTN):c.21404-6A>G
|
|
|
|
NM_001267550.2(TTN):c.21444A>G (p.Val7148=)
|
rs1578047350
|
|
|
NM_001267550.2(TTN):c.21450A>G (p.Pro7150=)
|
rs2154302980
|
|
|
NM_001267550.2(TTN):c.21453C>G (p.Gly7151=)
|
rs1450991403
|
|
|
NM_001267550.2(TTN):c.21474C>T (p.Ser7158=)
|
rs1229825752
|
|
|
NM_001267550.2(TTN):c.21483A>G (p.Arg7161=)
|
|
|
|
NM_001267550.2(TTN):c.21489C>T (p.Thr7163=)
|
rs376882041
|
|
|
NM_001267550.2(TTN):c.21495A>T (p.Pro7165=)
|
|
|
|
NM_001267550.2(TTN):c.21501A>G (p.Lys7167=)
|
|
|
|
NM_001267550.2(TTN):c.21528A>G (p.Glu7176=)
|
|
|
|
NM_001267550.2(TTN):c.21534G>A (p.Val7178=)
|
|
|
|
NM_001267550.2(TTN):c.21546G>T (p.Arg7182=)
|
rs2154302911
|
|
|
NM_001267550.2(TTN):c.21573G>A (p.Val7191=)
|
rs1553912562
|
|
|
NM_001267550.2(TTN):c.21612T>C (p.Ser7204=)
|
|
|
|
NM_001267550.2(TTN):c.21621C>T (p.Tyr7207=)
|
rs2154302853
|
|
|
NM_001267550.2(TTN):c.2163G>A (p.Gly721=)
|
|
|
|
NM_001267550.2(TTN):c.21654A>G (p.Ala7218=)
|
|
|
|
NM_001267550.2(TTN):c.21663T>A (p.Thr7221=)
|
rs748183491
|
|
|
NM_001267550.2(TTN):c.21666C>T (p.Thr7222=)
|
rs1041546705
|
|
|
NM_001267550.2(TTN):c.2166T>C (p.His722=)
|
rs1574820671
|
|
|
NM_001267550.2(TTN):c.21682+14G>T
|
rs2154302806
|
|
|
NM_001267550.2(TTN):c.21682+15A>T
|
|
|
|
NM_001267550.2(TTN):c.21682+18C>T
|
|
|
|
NM_001267550.2(TTN):c.21683-17G>T
|
rs2154302746
|
|
|
NM_001267550.2(TTN):c.21693A>G (p.Ala7231=)
|
rs2154302727
|
|
|
NM_001267550.2(TTN):c.216A>G (p.Lys72=)
|
rs2094104663
|
|
|
NM_001267550.2(TTN):c.21720T>C (p.Ser7240=)
|
|
|
|
NM_001267550.2(TTN):c.21738C>T (p.Ser7246=)
|
|
|
|
NM_001267550.2(TTN):c.21747G>C (p.Leu7249=)
|
rs1578040198
|
|
|
NM_001267550.2(TTN):c.21753C>T (p.Ser7251=)
|
rs957819653
|
|
|
NM_001267550.2(TTN):c.21795G>A (p.Lys7265=)
|
rs2078724173
|
|
|
NM_001267550.2(TTN):c.2181T>C (p.Tyr727=)
|
|
|
|
NM_001267550.2(TTN):c.21843A>G (p.Thr7281=)
|
|
|
|
NM_001267550.2(TTN):c.21852T>C (p.Thr7284=)
|
rs1254391142
|
|
|
NM_001267550.2(TTN):c.21855T>C (p.Cys7285=)
|
rs2154302640
|
|
|
NM_001267550.2(TTN):c.21861G>A (p.Leu7287=)
|
|
|
|
NM_001267550.2(TTN):c.21861G>T (p.Leu7287=)
|
|
|
|
NM_001267550.2(TTN):c.21879A>T (p.Thr7293=)
|
rs756470925
|
|
|
NM_001267550.2(TTN):c.21915A>G (p.Glu7305=)
|
|
|
|
NM_001267550.2(TTN):c.21961+12T>C
|
rs2154302588
|
|
|
NM_001267550.2(TTN):c.21961+19T>A
|
|
|
|
NM_001267550.2(TTN):c.21962-14C>A
|
|
|
|
NM_001267550.2(TTN):c.21966G>C (p.Pro7322=)
|
rs773546767
|
|
|
NM_001267550.2(TTN):c.21981G>C (p.Thr7327=)
|
rs775230627
|
|
|
NM_001267550.2(TTN):c.22008T>G (p.Val7336=)
|
rs976920570
|
|
|
NM_001267550.2(TTN):c.22041T>C (p.Ala7347=)
|
|
|
|
NM_001267550.2(TTN):c.22044G>A (p.Gly7348=)
|
rs1578033219
|
|
|
NM_001267550.2(TTN):c.22044G>C (p.Gly7348=)
|
rs1578033219
|
|
|
NM_001267550.2(TTN):c.22056T>C (p.Ile7352=)
|
|
|
|
NM_001267550.2(TTN):c.22065T>C (p.Ser7355=)
|
rs2154302426
|
|
|
NM_001267550.2(TTN):c.22092G>C (p.Arg7364=)
|
rs2154302395
|
|
|
NM_001267550.2(TTN):c.22107C>T (p.Tyr7369=)
|
|
|
|
NM_001267550.2(TTN):c.22113C>A (p.Thr7371=)
|
rs2154302379
|
|
|
NM_001267550.2(TTN):c.22134C>T (p.Ala7378=)
|
rs879172660
|
|
|
NM_001267550.2(TTN):c.22146T>C (p.Phe7382=)
|
rs2154302354
|
|
|
NM_001267550.2(TTN):c.2214G>A (p.Lys738=)
|
|
|
|
NM_001267550.2(TTN):c.22164T>C (p.Asn7388=)
|
|
|
|
NM_001267550.2(TTN):c.2218C>A (p.Arg740Ser)
|
rs566299753
|
|
|
NM_001267550.2(TTN):c.22215T>C (p.Ser7405=)
|
rs1578030754
|
|
|
NM_001267550.2(TTN):c.22236T>C (p.Ile7412=)
|
|
|
|
NM_001267550.2(TTN):c.22241-4A>G
|
|
|
|
NM_001267550.2(TTN):c.22242G>A (p.Glu7414=)
|
rs1422386133
|
|
|
NM_001267550.2(TTN):c.2226C>T (p.Ser742=)
|
rs151025677
|
|
|
NM_001267550.2(TTN):c.22278G>A (p.Lys7426=)
|
rs758185616
|
|
|
NM_001267550.2(TTN):c.22293T>G (p.Thr7431=)
|
|
|
|
NM_001267550.2(TTN):c.22299G>A (p.Gly7433=)
|
|
|
|
NM_001267550.2(TTN):c.22305T>C (p.Pro7435=)
|
rs1578026327
|
|
|
NM_001267550.2(TTN):c.22311A>G (p.Thr7437=)
|
|
|
|
NM_001267550.2(TTN):c.22344C>A (p.Ile7448=)
|
rs2154302021
|
|
|
NM_001267550.2(TTN):c.22371A>G (p.Val7457=)
|
|
|
|
NM_001267550.2(TTN):c.22386T>C (p.Asp7462=)
|
|
|
|
NM_001267550.2(TTN):c.22393C>T (p.Leu7465=)
|
rs1578024879
|
|
|
NM_001267550.2(TTN):c.22401T>A (p.Thr7467=)
|
rs2154301978
|
|
|
NM_001267550.2(TTN):c.22419G>A (p.Val7473=)
|
rs767338909
|
|
|
NM_001267550.2(TTN):c.22425T>C (p.Thr7475=)
|
|
|
|
NM_001267550.2(TTN):c.22449G>A (p.Leu7483=)
|
rs1295926782
|
|
|
NM_001267550.2(TTN):c.22461C>T (p.Gly7487=)
|
|
|
|
NM_001267550.2(TTN):c.22488A>C (p.Pro7496=)
|
|
|
|
NM_001267550.2(TTN):c.22528+12C>T
|
rs756012779
|
|
|
NM_001267550.2(TTN):c.22528+13G>A
|
rs191694576
|
|
|
NM_001267550.2(TTN):c.22528+15C>T
|
|
|
|
NM_001267550.2(TTN):c.22528+17C>G
|
|
|
|
NM_001267550.2(TTN):c.22528+20T>C
|
|
|
|
NM_001267550.2(TTN):c.22529-10C>T
|
rs777294088
|
|
|
NM_001267550.2(TTN):c.22529-16T>C
|
|
|
|
NM_001267550.2(TTN):c.22566A>T (p.Val7522=)
|
rs1578019256
|
|
|
NM_001267550.2(TTN):c.22587A>C (p.Gly7529=)
|
rs751294966
|
|
|
NM_001267550.2(TTN):c.22596T>C (p.Ala7532=)
|
|
|
|
NM_001267550.2(TTN):c.22599T>C (p.Asp7533=)
|
rs1553909923
|
|
|
NM_001267550.2(TTN):c.22620T>C (p.Gly7540=)
|
rs1553909881
|
|
|
NM_001267550.2(TTN):c.22620T>G (p.Gly7540=)
|
|
|
|
NM_001267550.2(TTN):c.2264C>T (p.Ser755Leu)
|
rs533384820
|
|
|
NM_001267550.2(TTN):c.22680C>T (p.Asn7560=)
|
|
|
|
NM_001267550.2(TTN):c.22704C>T (p.Asn7568=)
|
|
|
|
NM_001267550.2(TTN):c.2271C>T (p.Pro757=)
|
rs2154351694
|
|
|
NM_001267550.2(TTN):c.22746T>C (p.Ser7582=)
|
rs2154301461
|
|
|
NM_001267550.2(TTN):c.22755T>C (p.Tyr7585=)
|
|
|
|
NM_001267550.2(TTN):c.22776T>C (p.Asp7592=)
|
rs2154301453
|
|
|
NM_001267550.2(TTN):c.2277T>C (p.Val759=)
|
|
|
|
NM_001267550.2(TTN):c.22816+10C>A
|
|
|
|
NM_001267550.2(TTN):c.22816+14A>C
|
|
|
|
NM_001267550.2(TTN):c.22816+7T>G
|
rs1578014851
|
|
|
NM_001267550.2(TTN):c.22824A>G (p.Pro7608=)
|
rs2154301096
|
|
|
NM_001267550.2(TTN):c.22827G>A (p.Lys7609=)
|
|
|
|
NM_001267550.2(TTN):c.22878T>C (p.Ile7626=)
|
rs2154301068
|
|
|
NM_001267550.2(TTN):c.22881A>G (p.Gln7627=)
|
rs1417736563
|
|
|
NM_001267550.2(TTN):c.22923A>C (p.Ser7641=)
|
|
|
|
NM_001267550.2(TTN):c.22923A>G (p.Ser7641=)
|
rs1276005134
|
|
|
NM_001267550.2(TTN):c.22938C>T (p.Asp7646=)
|
|
|
|
NM_001267550.2(TTN):c.22941C>T (p.Ser7647=)
|
rs544355195
|
|
|
NM_001267550.2(TTN):c.22950T>C (p.His7650=)
|
rs1044130083
|
|
|
NM_001267550.2(TTN):c.22953A>G (p.Glu7651=)
|
rs1019776974
|
|
|
NM_001267550.2(TTN):c.22965C>T (p.Tyr7655=)
|
rs771515112
|
|
|
NM_001267550.2(TTN):c.22974A>G (p.Ser7658=)
|
|
|
|
NM_001267550.2(TTN):c.22989G>T (p.Val7663=)
|
rs1026619304
|
|
|
NM_001267550.2(TTN):c.23010A>G (p.Glu7670=)
|
rs2154301002
|
|
|
NM_001267550.2(TTN):c.23013T>C (p.Ala7671=)
|
|
|
|
NM_001267550.2(TTN):c.23049T>C (p.Ala7683=)
|
rs766992688
|
|
|
NM_001267550.2(TTN):c.23052T>C (p.His7684=)
|
rs1553908123
|
|
|
NM_001267550.2(TTN):c.23082A>G (p.Thr7694=)
|
rs2154300967
|
|
|
NM_001267550.2(TTN):c.23085G>T (p.Ala7695=)
|
rs768936623
|
|
|
NM_001267550.2(TTN):c.23094G>C (p.Val7698=)
|
rs886042288
|
|
|
NM_001267550.2(TTN):c.23098+13A>C
|
rs2154300940
|
|
|
NM_001267550.2(TTN):c.23098+19C>G
|
|
|
|
NM_001267550.2(TTN):c.23098+19_23098+22del
|
rs778593283
|
|
|
NM_001267550.2(TTN):c.23098+20T>C
|
|
|
|
NM_001267550.2(TTN):c.23098+9C>T
|
|
|
|
NM_001267550.2(TTN):c.23099-18T>C
|
|
|
|
NM_001267550.2(TTN):c.23106T>C (p.Pro7702=)
|
|
|
|
NM_001267550.2(TTN):c.2310G>A (p.Gln770=)
|
|
|
|
NM_001267550.2(TTN):c.23115C>G (p.Thr7705=)
|
|
|
|
NM_001267550.2(TTN):c.23127T>G (p.Ser7709=)
|
rs779291226
|
|
|
NM_001267550.2(TTN):c.23145A>G (p.Lys7715=)
|
|
|
|
NM_001267550.2(TTN):c.23148T>C (p.Gly7716=)
|
|
|
|
NM_001267550.2(TTN):c.23154T>C (p.Asp7718=)
|
rs2154300759
|
|
|
NM_001267550.2(TTN):c.23163C>A (p.Leu7721=)
|
|
|
|
NM_001267550.2(TTN):c.23166A>G (p.Gln7722=)
|
|
|
|
NM_001267550.2(TTN):c.23184T>G (p.Thr7728=)
|
|
|
|
NM_001267550.2(TTN):c.23199A>T (p.Val7733=)
|
rs1169967369
|
|
|
NM_001267550.2(TTN):c.23202A>G (p.Val7734=)
|
|
|
|
NM_001267550.2(TTN):c.23214T>C (p.Asp7738=)
|
rs727503648
|
|
|
NM_001267550.2(TTN):c.23215C>A (p.Arg7739=)
|
rs372250586
|
|
|
NM_001267550.2(TTN):c.23283C>A (p.Ile7761=)
|
rs2154300667
|
|
|
NM_001267550.2(TTN):c.23286T>A (p.Leu7762=)
|
rs1553907203
|
|
|
NM_001267550.2(TTN):c.23304T>C (p.Asp7768=)
|
|
|
|
NM_001267550.2(TTN):c.23340G>T (p.Val7780=)
|
|
|
|
NM_001267550.2(TTN):c.23361C>T (p.Cys7787=)
|
|
|
|
NM_001267550.2(TTN):c.23364T>C (p.Ser7788=)
|
|
|
|
NM_001267550.2(TTN):c.23377+14G>C
|
|
|
|
NM_001267550.2(TTN):c.23377+17A>G
|
|
|
|
NM_001267550.2(TTN):c.23378-12T>G
|
rs2154300543
|
|
|
NM_001267550.2(TTN):c.23378-14del
|
rs751632918
|
|
|
NM_001267550.2(TTN):c.23378-20C>T
|
rs2154300550
|
|
|
NM_001267550.2(TTN):c.23378-5A>G
|
|
|
|
NM_001267550.2(TTN):c.23394G>A (p.Val7798=)
|
rs758745049
|
|
|
NM_001267550.2(TTN):c.23400G>A (p.Lys7800=)
|
rs1488627887
|
|
|
NM_001267550.2(TTN):c.23418C>T (p.Thr7806=)
|
|
|
|
NM_001267550.2(TTN):c.23427G>A (p.Gly7809=)
|
rs2154300504
|
|
|
NM_001267550.2(TTN):c.23443C>A (p.Arg7815=)
|
rs528264100
|
|
|
NM_001267550.2(TTN):c.23472T>A (p.Ile7824=)
|
rs2154300485
|
|
|
NM_001267550.2(TTN):c.23493T>C (p.Asp7831=)
|
|
|
|
NM_001267550.2(TTN):c.23526C>T (p.Thr7842=)
|
|
|
|
NM_001267550.2(TTN):c.23535A>T (p.Ser7845=)
|
|
|
|
NM_001267550.2(TTN):c.23538C>T (p.Phe7846=)
|
rs149523263
|
|
|
NM_001267550.2(TTN):c.23553A>G (p.Ala7851=)
|
|
|
|
NM_001267550.2(TTN):c.23580A>G (p.Ala7860=)
|
|
|
|
NM_001267550.2(TTN):c.23649G>A (p.Leu7883=)
|
rs2154300398
|
|
|
NM_001267550.2(TTN):c.23655A>G (p.Val7885=)
|
rs2154300392
|
|
|
NM_001267550.2(TTN):c.23659+16C>T
|
|
|
|
NM_001267550.2(TTN):c.23659+19C>T
|
|
|
|
NM_001267550.2(TTN):c.23660-7C>G
|
|
|
|
NM_001267550.2(TTN):c.23660-8T>C
|
|
|
|
NM_001267550.2(TTN):c.23685C>G (p.Pro7895=)
|
rs755534186
|
|
|
NM_001267550.2(TTN):c.23688A>G (p.Glu7896=)
|
|
|
|
NM_001267550.2(TTN):c.2370+10T>A
|
|
|
|
NM_001267550.2(TTN):c.2370+10T>C
|
rs2154351635
|
|
|
NM_001267550.2(TTN):c.2370+15G>A
|
|
|
|
NM_001267550.2(TTN):c.2370+7C>G
|
|
|
|
NM_001267550.2(TTN):c.2370+8T>A
|
rs1574817057
|
|
|
NM_001267550.2(TTN):c.2370+8T>C
|
rs1574817057
|
|
|
NM_001267550.2(TTN):c.2370+8T>G
|
rs1574817057
|
|
|
NM_001267550.2(TTN):c.2371-11T>A
|
rs2154351584
|
|
|
NM_001267550.2(TTN):c.2371-15T>C
|
|
|
|
NM_001267550.2(TTN):c.2371-16T>C
|
|
|
|
NM_001267550.2(TTN):c.2371-4G>A
|
rs1574815067
|
|
|
NM_001267550.2(TTN):c.2371-7A>T
|
rs2154351583
|
|
|
NM_001267550.2(TTN):c.23721A>G (p.Ala7907=)
|
rs2154300254
|
|
|
NM_001267550.2(TTN):c.23742A>C (p.Gly7914=)
|
|
|
|
NM_001267550.2(TTN):c.23853C>T (p.Ala7951=)
|
rs201766927
|
|
|
NM_001267550.2(TTN):c.2389C>T (p.Leu797=)
|
rs1574814717
|
|
|
NM_001267550.2(TTN):c.23925C>A (p.Ser7975=)
|
|
|
|
NM_001267550.2(TTN):c.23931T>C (p.His7977=)
|
rs1340162231
|
|
|
NM_001267550.2(TTN):c.23938+17T>A
|
|
|
|
NM_001267550.2(TTN):c.23938+19T>G
|
|
|
|
NM_001267550.2(TTN):c.23938+7A>G
|
|
|
|
NM_001267550.2(TTN):c.23939-14C>T
|
|
|
|
NM_001267550.2(TTN):c.23939-18C>T
|
|
|
|
NM_001267550.2(TTN):c.23939-4A>G
|
rs775692859
|
|
|
NM_001267550.2(TTN):c.23939-5C>T
|
rs1214280183
|
|
|
NM_001267550.2(TTN):c.23939-6A>C
|
|
|
|
NM_001267550.2(TTN):c.23939-8C>G
|
|
|
|
NM_001267550.2(TTN):c.23943G>A (p.Arg7981=)
|
|
|
|
NM_001267550.2(TTN):c.23949G>A (p.Val7983=)
|
|
|
|
NM_001267550.2(TTN):c.23970G>A (p.Lys7990=)
|
rs1553905164
|
|
|
NM_001267550.2(TTN):c.2397G>C (p.Thr799=)
|
rs369313128
|
|
|
NM_001267550.2(TTN):c.24015G>A (p.Glu8005=)
|
|
|
|
NM_001267550.2(TTN):c.24033A>C (p.Ser8011=)
|
rs2154300026
|
|
|
NM_001267550.2(TTN):c.24045A>T (p.Ser8015=)
|
rs1060503946
|
|
|
NM_001267550.2(TTN):c.2404T>C (p.Leu802=)
|
|
|
|
NM_001267550.2(TTN):c.24072G>A (p.Glu8024=)
|
rs745438982
|
|
|
NM_001267550.2(TTN):c.24075T>C (p.Ile8025=)
|
rs371496970
|
|
|
NM_001267550.2(TTN):c.24102C>T (p.Ser8034=)
|
rs2154299995
|
|
|
NM_001267550.2(TTN):c.24120T>C (p.Cys8040=)
|
|
|
|
NM_001267550.2(TTN):c.24132G>A (p.Leu8044=)
|
rs1377086549
|
|
|
NM_001267550.2(TTN):c.24156A>G (p.Thr8052=)
|
rs749823104
|
|
|
NM_001267550.2(TTN):c.24156A>T (p.Thr8052=)
|
rs749823104
|
|
|
NM_001267550.2(TTN):c.24174G>T (p.Val8058=)
|
rs1553904651
|
|
|
NM_001267550.2(TTN):c.24183T>C (p.Asn8061=)
|
|
|
|
NM_001267550.2(TTN):c.24186A>G (p.Val8062=)
|
rs1439021321
|
|
|
NM_001267550.2(TTN):c.24216G>T (p.Leu8072=)
|
|
|
|
NM_001267550.2(TTN):c.24219T>A (p.Thr8073=)
|
|
|
|
NM_001267550.2(TTN):c.24226+13G>A
|
|
|
|
NM_001267550.2(TTN):c.24226+19A>G
|
|
|
|
NM_001267550.2(TTN):c.24226+20del
|
rs2154299927
|
|
|
NM_001267550.2(TTN):c.24226+9G>A
|
|
|
|
NM_001267550.2(TTN):c.24227-4C>T
|
|
|
|
NM_001267550.2(TTN):c.24227-5T>C
|
|
|
|
NM_001267550.2(TTN):c.24228A>G (p.Glu8076=)
|
rs2154299826
|
|
|
NM_001267550.2(TTN):c.24249C>A (p.Thr8083=)
|
|
|
|
NM_001267550.2(TTN):c.2427C>A (p.Pro809=)
|
|
|
|
NM_001267550.2(TTN):c.24294C>A (p.Thr8098=)
|
rs2154299797
|
|
|
NM_001267550.2(TTN):c.24303C>T (p.Ile8101=)
|
|
|
|
NM_001267550.2(TTN):c.24324G>A (p.Lys8108=)
|
|
|
|
NM_001267550.2(TTN):c.24352C>T (p.Leu8118=)
|
|
|
|
NM_001267550.2(TTN):c.24354G>T (p.Leu8118=)
|
|
|
|
NM_001267550.2(TTN):c.24363G>A (p.Gly8121=)
|
rs2154299764
|
|
|
NM_001267550.2(TTN):c.24375C>T (p.Asn8125=)
|
rs2154299754
|
|
|
NM_001267550.2(TTN):c.24396C>A (p.Val8132=)
|
|
|
|
NM_001267550.2(TTN):c.24396C>G (p.Val8132=)
|
|
|
|
NM_001267550.2(TTN):c.24408G>A (p.Glu8136=)
|
|
|
|
NM_001267550.2(TTN):c.2442T>C (p.Pro814=)
|
|
|
|
NM_001267550.2(TTN):c.24441C>T (p.Asp8147=)
|
rs2154299720
|
|
|
NM_001267550.2(TTN):c.24468T>A (p.Ala8156=)
|
|
|
|
NM_001267550.2(TTN):c.24477T>C (p.Ala8159=)
|
rs2154299701
|
|
|
NM_001267550.2(TTN):c.24505+14C>T
|
rs2154299679
|
|
|
NM_001267550.2(TTN):c.24506-14T>C
|
|
|
|
NM_001267550.2(TTN):c.24506-17A>G
|
rs2154299621
|
|
|
NM_001267550.2(TTN):c.24506-19A>C
|
|
|
|
NM_001267550.2(TTN):c.24506-20C>T
|
|
|
|
NM_001267550.2(TTN):c.24506-4A>G
|
|
|
|
NM_001267550.2(TTN):c.24506-7C>T
|
|
|
|
NM_001267550.2(TTN):c.24513C>G (p.Ala8171=)
|
rs1020696119
|
|
|
NM_001267550.2(TTN):c.24529T>C (p.Leu8177=)
|
|
|
|
NM_001267550.2(TTN):c.24552A>T (p.Thr8184=)
|
rs2154299584
|
|
|
NM_001267550.2(TTN):c.24570C>T (p.Leu8190=)
|
rs752689161
|
|
|
NM_001267550.2(TTN):c.2457A>T (p.Ser819=)
|
rs1574813852
|
|
|
NM_001267550.2(TTN):c.24582C>T (p.Tyr8194=)
|
rs1577961198
|
|
|
NM_001267550.2(TTN):c.24594T>A (p.Pro8198=)
|
rs2154299570
|
|
|
NM_001267550.2(TTN):c.24597A>G (p.Pro8199=)
|
|
|
|
NM_001267550.2(TTN):c.24624G>A (p.Glu8208=)
|
rs755684790
|
|
|
NM_001267550.2(TTN):c.24636A>G (p.Ser8212=)
|
rs1553903322
|
|
|
NM_001267550.2(TTN):c.24699C>T (p.Ser8233=)
|
|
|
|
NM_001267550.2(TTN):c.2472T>C (p.Pro824=)
|
rs2154351536
|
|
|
NM_001267550.2(TTN):c.24732G>A (p.Leu8244=)
|
rs1577958756
|
|
|
NM_001267550.2(TTN):c.24784+13C>A
|
rs2154299467
|
|
|
NM_001267550.2(TTN):c.24784+16C>A
|
|
|
|
NM_001267550.2(TTN):c.24784+17C>T
|
|
|
|
NM_001267550.2(TTN):c.24785-20T>C
|
|
|
|
NM_001267550.2(TTN):c.24785-4A>G
|
rs2077791135
|
|
|
NM_001267550.2(TTN):c.24785-8T>C
|
rs2154299410
|
|
|
NM_001267550.2(TTN):c.24795C>T (p.Tyr8265=)
|
rs776344275
|
|
|
NM_001267550.2(TTN):c.2481A>G (p.Glu827=)
|
|
|
|
NM_001267550.2(TTN):c.24828C>T (p.Val8276=)
|
rs2154299390
|
|
|
NM_001267550.2(TTN):c.24834A>C (p.Gly8278=)
|
rs2154299384
|
|
|
NM_001267550.2(TTN):c.24861G>A (p.Val8287=)
|
rs1577954833
|
|
|
NM_001267550.2(TTN):c.24879T>C (p.Ile8293=)
|
rs1221548315
|
|
|
NM_001267550.2(TTN):c.24888T>G (p.Ser8296=)
|
rs535603112
|
|
|
NM_001267550.2(TTN):c.24900A>G (p.Glu8300=)
|
|
|
|
NM_001267550.2(TTN):c.2493+10T>C
|
rs2154351516
|
|
|
NM_001267550.2(TTN):c.2493+17C>T
|
|
|
|
NM_001267550.2(TTN):c.2493+8G>T
|
rs1574813372
|
|
|
NM_001267550.2(TTN):c.24933A>G (p.Lys8311=)
|
|
|
|
NM_001267550.2(TTN):c.2494-11T>A
|
rs780529677
|
|
|
NM_001267550.2(TTN):c.2494-13dup
|
|
|
|
NM_001267550.2(TTN):c.2494-16C>T
|
rs532479339
|
|
|
NM_001267550.2(TTN):c.24960C>T (p.Ser8320=)
|
rs1057522331
|
|
|
NM_001267550.2(TTN):c.24972C>T (p.Asn8324=)
|
|
|
|
NM_001267550.2(TTN):c.25011G>A (p.Lys8337=)
|
rs2077753718
|
|
|
NM_001267550.2(TTN):c.25053T>G (p.Leu8351=)
|
|
|
|
NM_001267550.2(TTN):c.25056T>C (p.Val8352=)
|
rs757546548
|
|
|
NM_001267550.2(TTN):c.25059C>T (p.Ile8353=)
|
|
|
|
NM_001267550.2(TTN):c.25063+16A>T
|
|
|
|
NM_001267550.2(TTN):c.25063+18C>A
|
|
|
|
NM_001267550.2(TTN):c.25087G>T (p.Ala8363Ser)
|
rs200972189
|
|
|
NM_001267550.2(TTN):c.25104C>T (p.Asp8368=)
|
rs369089044
|
|
|
NM_001267550.2(TTN):c.25116T>C (p.Thr8372=)
|
|
|
|
NM_001267550.2(TTN):c.25128A>C (p.Pro8376=)
|
|
|
|
NM_001267550.2(TTN):c.25143C>T (p.Cys8381=)
|
|
|
|
NM_001267550.2(TTN):c.25158A>G (p.Ser8386=)
|
|
|
|
NM_001267550.2(TTN):c.25194T>C (p.Val8398=)
|
rs2077699413
|
|
|
NM_001267550.2(TTN):c.25224A>G (p.Thr8408=)
|
|
|
|
NM_001267550.2(TTN):c.25245A>C (p.Ala8415=)
|
|
|
|
NM_001267550.2(TTN):c.25317G>A (p.Gly8439=)
|
rs2154299072
|
|
|
NM_001267550.2(TTN):c.25326A>G (p.Ser8442=)
|
rs370936663
|
|
|
NM_001267550.2(TTN):c.25326A>T (p.Ser8442=)
|
|
|
|
NM_001267550.2(TTN):c.25329C>T (p.Ser8443=)
|
rs1270174085
|
|
|
NM_001267550.2(TTN):c.25347C>G (p.Leu8449=)
|
|
|
|
NM_001267550.2(TTN):c.25347C>T (p.Leu8449=)
|
|
|
|
NM_001267550.2(TTN):c.25351+11C>G
|
|
|
|
NM_001267550.2(TTN):c.25351+13C>T
|
|
|
|
NM_001267550.2(TTN):c.25351+15_25351+17dup
|
|
|
|
NM_001267550.2(TTN):c.25351+20C>T
|
|
|
|
NM_001267550.2(TTN):c.25351+9C>T
|
rs72648985
|
|
|
NM_001267550.2(TTN):c.25362G>A (p.Val8454=)
|
|
|
|
NM_001267550.2(TTN):c.2536T>C (p.Leu846=)
|
|
|
|
NM_001267550.2(TTN):c.25389A>C (p.Val8463=)
|
rs376181650
|
|
|
NM_001267550.2(TTN):c.25389A>G (p.Val8463=)
|
|
|
|
NM_001267550.2(TTN):c.25389A>T (p.Val8463=)
|
rs376181650
|
|
|
NM_001267550.2(TTN):c.25416T>C (p.Ser8472=)
|
rs879039947
|
|
|
NM_001267550.2(TTN):c.25452A>G (p.Pro8484=)
|
rs2154298918
|
|
|
NM_001267550.2(TTN):c.25464T>C (p.Thr8488=)
|
|
|
|
NM_001267550.2(TTN):c.25476T>C (p.Asp8492=)
|
rs777349143
|
|
|
NM_001267550.2(TTN):c.2547A>G (p.Thr849=)
|
rs1554020540
|
|
|
NM_001267550.2(TTN):c.25491C>T (p.Arg8497=)
|
rs1577937623
|
|
|
NM_001267550.2(TTN):c.25530T>C (p.Thr8510=)
|
rs2154298881
|
|
|
NM_001267550.2(TTN):c.25533C>G (p.Ala8511=)
|
rs2154298879
|
|
|
NM_001267550.2(TTN):c.25554A>T (p.Val8518=)
|
|
|
|
NM_001267550.2(TTN):c.25566T>C (p.Asp8522=)
|
rs2154298870
|
|
|
NM_001267550.2(TTN):c.25623T>C (p.Ala8541=)
|
|
|
|
NM_001267550.2(TTN):c.25629G>A (p.Leu8543=)
|
rs2154298839
|
|
|
NM_001267550.2(TTN):c.25639+16A>G
|
|
|
|
NM_001267550.2(TTN):c.25639+18G>C
|
|
|
|
NM_001267550.2(TTN):c.25639+20A>C
|
|
|
|
NM_001267550.2(TTN):c.25640-10G>C
|
rs2077388786
|
|
|
NM_001267550.2(TTN):c.25640-9G>T
|
rs2154297996
|
|
|
NM_001267550.2(TTN):c.25647C>A (p.Pro8549=)
|
rs2154297990
|
|
|
NM_001267550.2(TTN):c.25653C>T (p.Phe8551=)
|
|
|
|
NM_001267550.2(TTN):c.25665A>G (p.Leu8555=)
|
|
|
|
NM_001267550.2(TTN):c.25710A>G (p.Glu8570=)
|
rs1286326979
|
|
|
NM_001267550.2(TTN):c.25713C>T (p.Cys8571=)
|
|
|
|
NM_001267550.2(TTN):c.2571A>G (p.Lys857=)
|
|
|
|
NM_001267550.2(TTN):c.2574G>A (p.Ser858=)
|
rs1265382651
|
|
|
NM_001267550.2(TTN):c.25773A>G (p.Gln8591=)
|
rs1577913380
|
|
|
NM_001267550.2(TTN):c.25776G>A (p.Glu8592=)
|
|
|
|
NM_001267550.2(TTN):c.25806C>T (p.Asp8602=)
|
|
|
|
NM_001267550.2(TTN):c.25842T>A (p.Val8614=)
|
rs2154297894
|
|
|
NM_001267550.2(TTN):c.25842T>C (p.Val8614=)
|
|
|
|
NM_001267550.2(TTN):c.25869G>A (p.Glu8623=)
|
rs1053333216
|
|
|
NM_001267550.2(TTN):c.2586T>G (p.Pro862=)
|
rs2093007488
|
|
|
NM_001267550.2(TTN):c.25893C>G (p.Ala8631=)
|
rs761767317
|
|
|
NM_001267550.2(TTN):c.2589T>C (p.Thr863=)
|
rs794727178
|
|
|
NM_001267550.2(TTN):c.258T>C (p.Ser86=)
|
rs2154359818
|
|
|
NM_001267550.2(TTN):c.25921+11T>C
|
|
|
|
NM_001267550.2(TTN):c.25921+15C>G
|
rs746391473
|
|
|
NM_001267550.2(TTN):c.25921+7G>A
|
rs780204398
|
|
|
NM_001267550.2(TTN):c.25922-11T>C
|
|
|
|
NM_001267550.2(TTN):c.25922-6T>C
|
rs796983452
|
|
|
NM_001267550.2(TTN):c.25926A>G (p.Pro8642=)
|
rs778135509
|
|
|
NM_001267550.2(TTN):c.25929C>G (p.Pro8643=)
|
rs2154297713
|
|
|
NM_001267550.2(TTN):c.25938C>A (p.Arg8646=)
|
rs2154297706
|
|
|
NM_001267550.2(TTN):c.25956A>G (p.Ile8652Met)
|
rs760452917
|
|
|
NM_001267550.2(TTN):c.25959G>A (p.Glu8653=)
|
rs879235743
|
|
|
NM_001267550.2(TTN):c.2595G>A (p.Lys865=)
|
|
|
|
NM_001267550.2(TTN):c.25962A>G (p.Thr8654=)
|
rs1577905357
|
|
|
NM_001267550.2(TTN):c.25995G>A (p.Glu8665=)
|
|
|
|
NM_001267550.2(TTN):c.26004C>A (p.Gly8668=)
|
rs2154297672
|
|
|
NM_001267550.2(TTN):c.2601T>C (p.Ser867=)
|
|
|
|
NM_001267550.2(TTN):c.2604G>A (p.Glu868=)
|
rs1459799128
|
|
|
NM_001267550.2(TTN):c.26055C>T (p.Ser8685=)
|
rs727505250
|
|
|
NM_001267550.2(TTN):c.26064G>A (p.Lys8688=)
|
rs1057523745
|
|
|
NM_001267550.2(TTN):c.2607T>C (p.Thr869=)
|
rs143969192
|
|
|
NM_001267550.2(TTN):c.26094C>A (p.Thr8698=)
|
rs1553897341
|
|
|
NM_001267550.2(TTN):c.26103C>T (p.His8701=)
|
|
|
|
NM_001267550.2(TTN):c.26115C>G (p.Val8705=)
|
rs1165178870
|
|
|
NM_001267550.2(TTN):c.26124A>G (p.Ala8708=)
|
rs879199507
|
|
|
NM_001267550.2(TTN):c.26142G>A (p.Gln8714=)
|
rs2077266939
|
|
|
NM_001267550.2(TTN):c.26157T>C (p.Asn8719=)
|
rs878854294
|
|
|
NM_001267550.2(TTN):c.26160T>C (p.Asp8720=)
|
|
|
|
NM_001267550.2(TTN):c.26161G>A (p.Val8721Met)
|
rs777730788
|
|
|
NM_001267550.2(TTN):c.26190C>T (p.Ile8730=)
|
rs1419862291
|
|
|
NM_001267550.2(TTN):c.26200+13G>A
|
|
|
|
NM_001267550.2(TTN):c.26200+18C>G
|
|
|
|
NM_001267550.2(TTN):c.26200+19A>G
|
|
|
|
NM_001267550.2(TTN):c.26200+7T>G
|
|
|
|
NM_001267550.2(TTN):c.26201-13C>T
|
rs727505138
|
|
|
NM_001267550.2(TTN):c.26201-18T>C
|
|
|
|
NM_001267550.2(TTN):c.26201-4T>A
|
rs2154297269
|
|
|
NM_001267550.2(TTN):c.26201-9T>C
|
rs559145312
|
|
|
NM_001267550.2(TTN):c.26226C>T (p.Leu8742=)
|
|
|
|
NM_001267550.2(TTN):c.26232C>T (p.Asp8744=)
|
|
|
|
NM_001267550.2(TTN):c.26241T>G (p.Thr8747=)
|
rs2154297247
|
|
|
NM_001267550.2(TTN):c.26250T>C (p.Gly8750=)
|
rs199904773
|
|
|
NM_001267550.2(TTN):c.26286T>C (p.Ala8762=)
|
|
|
|
NM_001267550.2(TTN):c.26292C>A (p.Pro8764=)
|
|
|
|
NM_001267550.2(TTN):c.26301G>A (p.Val8767=)
|
rs567685488
|
|
|
NM_001267550.2(TTN):c.26301G>T (p.Val8767=)
|
|
|
|
NM_001267550.2(TTN):c.26316T>C (p.Asp8772=)
|
|
|
|
NM_001267550.2(TTN):c.26328C>T (p.Ile8776=)
|
|
|
|
NM_001267550.2(TTN):c.26379C>T (p.Thr8793=)
|
rs768535816
|
|
|
NM_001267550.2(TTN):c.2637A>G (p.Pro879=)
|
|
|
|
NM_001267550.2(TTN):c.26394A>G (p.Arg8798=)
|
|
|
|
NM_001267550.2(TTN):c.26400A>G (p.Glu8800=)
|
rs745721315
|
|
|
NM_001267550.2(TTN):c.26409T>C (p.Asn8803=)
|
rs749331163
|
|
|
NM_001267550.2(TTN):c.26421C>T (p.Tyr8807=)
|
|
|
|
NM_001267550.2(TTN):c.26433C>A (p.Ile8811=)
|
|
|
|
NM_001267550.2(TTN):c.26448G>A (p.Gly8816=)
|
rs968514546
|
|
|
NM_001267550.2(TTN):c.26469G>A (p.Thr8823=)
|
rs775381639
|
|
|
NM_001267550.2(TTN):c.26469G>T (p.Thr8823=)
|
rs775381639
|
|
|
NM_001267550.2(TTN):c.2646C>G (p.Pro882=)
|
|
|
|
NM_001267550.2(TTN):c.2646C>T (p.Pro882=)
|
|
|
|
NM_001267550.2(TTN):c.26470C>T (p.Leu8824=)
|
|
|
|
NM_001267550.2(TTN):c.26475C>T (p.Ser8825=)
|
rs774217877
|
|
|
NM_001267550.2(TTN):c.26482+11A>C
|
|
|
|
NM_001267550.2(TTN):c.26482+15G>T
|
|
|
|
NM_001267550.2(TTN):c.26482+16A>G
|
|
|
|
NM_001267550.2(TTN):c.26482+18G>A
|
|
|
|
NM_001267550.2(TTN):c.26482+19T>A
|
rs370931286
|
|
|
NM_001267550.2(TTN):c.26483-14A>G
|
|
|
|
NM_001267550.2(TTN):c.26484G>A (p.Glu8828=)
|
|
|
|
NM_001267550.2(TTN):c.26538C>G (p.Thr8846=)
|
rs1382963511
|
|
|
NM_001267550.2(TTN):c.26544C>T (p.Thr8848=)
|
rs1185075181
|
|
|
NM_001267550.2(TTN):c.26553T>C (p.Cys8851=)
|
rs1553895388
|
|
|
NM_001267550.2(TTN):c.26568C>A (p.Thr8856=)
|
|
|
|
NM_001267550.2(TTN):c.26595G>A (p.Lys8865=)
|
|
|
|
NM_001267550.2(TTN):c.26601A>G (p.Gly8867=)
|
rs2154296997
|
|
|
NM_001267550.2(TTN):c.26607G>A (p.Glu8869=)
|
rs747118425
|
|
|
NM_001267550.2(TTN):c.2661A>G (p.Pro887=)
|
|
|
|
NM_001267550.2(TTN):c.26637C>T (p.Ser8879=)
|
|
|
|
NM_001267550.2(TTN):c.26643C>T (p.Phe8881=)
|
rs982955034
|
|
|
NM_001267550.2(TTN):c.2664T>C (p.Asp888=)
|
|
|
|
NM_001267550.2(TTN):c.26682G>C (p.Pro8894=)
|
|
|
|
NM_001267550.2(TTN):c.26703T>C (p.Ser8901=)
|
|
|
|
NM_001267550.2(TTN):c.26730A>G (p.Lys8910=)
|
|
|
|
NM_001267550.2(TTN):c.26739C>T (p.Cys8913=)
|
|
|
|
NM_001267550.2(TTN):c.2673G>A (p.Lys891=)
|
|
|
|
NM_001267550.2(TTN):c.26749T>C (p.Leu8917=)
|
rs2154296946
|
|
|
NM_001267550.2(TTN):c.26754G>A (p.Gln8918=)
|
rs1060503939
|
|
|
NM_001267550.2(TTN):c.26761+19C>T
|
|
|
|
NM_001267550.2(TTN):c.26762-10_26762-9insTGTTG
|
|
|
|
NM_001267550.2(TTN):c.26762-10_26762-9insTTGTTTTGTA
|
rs1553893826
|
|
|
NM_001267550.2(TTN):c.26762-10_26762-9insTTTTGTTTTT
|
|
|
|
NM_001267550.2(TTN):c.26762-10_26762-9insTTTTT
|
rs1553893827
|
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[10]
|
rs71393436
|
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[12]
|
rs71393436
|
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[4]
|
rs71393436
|
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[9]
|
rs71393436
|
|
|
NM_001267550.2(TTN):c.26762-4T>C
|
|
|
|
NM_001267550.2(TTN):c.26762-8_26762-7insTTGTG
|
|
|
|
NM_001267550.2(TTN):c.26762-9A>T
|
|
|
|
NM_001267550.2(TTN):c.26790A>G (p.Arg8930=)
|
|
|
|
NM_001267550.2(TTN):c.267G>T (p.Ala89=)
|
rs577716745
|
|
|
NM_001267550.2(TTN):c.26811T>A (p.Gly8937=)
|
rs2154296548
|
|
|
NM_001267550.2(TTN):c.26811T>C (p.Gly8937=)
|
|
|
|
NM_001267550.2(TTN):c.26817C>A (p.Ser8939=)
|
|
|
|
NM_001267550.2(TTN):c.2685C>A (p.Gly895=)
|
rs139501351
|
|
|
NM_001267550.2(TTN):c.26868T>C (p.Ser8956=)
|
rs778211975
|
|
|
NM_001267550.2(TTN):c.26871C>T (p.Val8957=)
|
|
|
|
NM_001267550.2(TTN):c.26874C>T (p.Ser8958=)
|
|
|
|
NM_001267550.2(TTN):c.26895G>A (p.Glu8965=)
|
rs867921731
|
|
|
NM_001267550.2(TTN):c.26898C>A (p.Ile8966=)
|
rs377763876
|
|
|
NM_001267550.2(TTN):c.26901T>C (p.Ser8967=)
|
rs2076922924
|
|
|
NM_001267550.2(TTN):c.26907A>G (p.Gly8969=)
|
rs1560589117
|
|
|
NM_001267550.2(TTN):c.2694G>T (p.Val898=)
|
|
|
|
NM_001267550.2(TTN):c.26979T>C (p.Ser8993=)
|
rs531162850
|
|
|
NM_001267550.2(TTN):c.27049+11A>C
|
rs2076897331
|
|
|
NM_001267550.2(TTN):c.27050-11T>G
|
|
|
|
NM_001267550.2(TTN):c.27050-14G>T
|
rs2154296334
|
|
|
NM_001267550.2(TTN):c.27050-8G>C
|
|
|
|
NM_001267550.2(TTN):c.27090T>A (p.Val9030=)
|
|
|
|
NM_001267550.2(TTN):c.27123C>A (p.Ile9041=)
|
rs890920556
|
|
|
NM_001267550.2(TTN):c.27144C>T (p.Phe9048=)
|
rs2154296285
|
|
|
NM_001267550.2(TTN):c.27186T>C (p.Gly9062=)
|
rs745874179
|
|
|
NM_001267550.2(TTN):c.27198C>T (p.Asn9066=)
|
|
|
|
NM_001267550.2(TTN):c.27201G>T (p.Val9067=)
|
|
|
|
NM_001267550.2(TTN):c.2721T>G (p.Thr907=)
|
|
|
|
NM_001267550.2(TTN):c.27328+10A>C
|
|
|
|
NM_001267550.2(TTN):c.27328+12T>C
|
|
|
|
NM_001267550.2(TTN):c.27328+15T>C
|
|
|
|
NM_001267550.2(TTN):c.27328+19C>T
|
|
|
|
NM_001267550.2(TTN):c.27328+9G>A
|
rs2154296204
|
|
|
NM_001267550.2(TTN):c.27329-12del
|
|
|
|
NM_001267550.2(TTN):c.2733C>T (p.Val911=)
|
rs1554019951
|
|
|
NM_001267550.2(TTN):c.27366C>T (p.Ser9122=)
|
rs771307666
|
|
|
NM_001267550.2(TTN):c.27375A>G (p.Lys9125=)
|
|
|
|
NM_001267550.2(TTN):c.27399T>C (p.Gly9133=)
|
rs2154296085
|
|
|
NM_001267550.2(TTN):c.273T>C (p.Ser91=)
|
|
|
|
NM_001267550.2(TTN):c.27402A>T (p.Thr9134=)
|
rs2154296080
|
|
|
NM_001267550.2(TTN):c.27414T>G (p.Thr9138=)
|
|
|
|
NM_001267550.2(TTN):c.27426G>T (p.Ser9142=)
|
rs368081453
|
|
|
NM_001267550.2(TTN):c.27429T>C (p.Val9143=)
|
rs753291492
|
|
|
NM_001267550.2(TTN):c.27471G>A (p.Arg9157=)
|
|
|
|
NM_001267550.2(TTN):c.27486G>A (p.Thr9162=)
|
rs2154296046
|
|
|
NM_001267550.2(TTN):c.27498G>T (p.Ser9166=)
|
rs372528823
|
|
|
NM_001267550.2(TTN):c.27528A>G (p.Val9176=)
|
|
|
|
NM_001267550.2(TTN):c.27531G>A (p.Glu9177=)
|
rs1339109006
|
|
|
NM_001267550.2(TTN):c.27543A>G (p.Gln9181=)
|
rs2076791641
|
|
|
NM_001267550.2(TTN):c.27546C>T (p.Tyr9182=)
|
rs769151285
|
|
|
NM_001267550.2(TTN):c.27567C>T (p.Ala9189=)
|
rs1266472796
|
|
|
NM_001267550.2(TTN):c.27570T>C (p.Ser9190=)
|
|
|
|
NM_001267550.2(TTN):c.27585T>C (p.Cys9195=)
|
rs1280673837
|
|
|
NM_001267550.2(TTN):c.27591A>G (p.Ala9197=)
|
rs1212226110
|
|
|
NM_001267550.2(TTN):c.27607+18A>T
|
|
|
|
NM_001267550.2(TTN):c.27608-10T>C
|
|
|
|
NM_001267550.2(TTN):c.27608-17A>C
|
rs1308718630
|
|
|
NM_001267550.2(TTN):c.27608-17A>T
|
|
|
|
NM_001267550.2(TTN):c.27608-19T>G
|
|
|
|
NM_001267550.2(TTN):c.27608-21_27608-18del
|
rs760040610
|
|
|
NM_001267550.2(TTN):c.27608-4G>A
|
rs2076763407
|
|
|
NM_001267550.2(TTN):c.27648G>A (p.Val9216=)
|
|
|
|
NM_001267550.2(TTN):c.27663T>C (p.Ser9221=)
|
rs2154295886
|
|
|
NM_001267550.2(TTN):c.27672A>G (p.Leu9224=)
|
|
|
|
NM_001267550.2(TTN):c.27684T>G (p.Leu9228=)
|
|
|
|
NM_001267550.2(TTN):c.27693C>T (p.Thr9231=)
|
|
|
|
NM_001267550.2(TTN):c.276T>G (p.Thr92=)
|
|
|
|
NM_001267550.2(TTN):c.27711C>A (p.Ser9237=)
|
rs727504749
|
|
|
NM_001267550.2(TTN):c.27729A>G (p.Thr9243=)
|
rs2154295838
|
|
|
NM_001267550.2(TTN):c.2775+17C>A
|
|
|
|
NM_001267550.2(TTN):c.2775+19G>A
|
rs199707799
|
|
|
NM_001267550.2(TTN):c.2775+19G>T
|
rs199707799
|
|
|
NM_001267550.2(TTN):c.2775+20C>T
|
|
|
|
NM_001267550.2(TTN):c.2775+8A>G
|
|
|
|
NM_001267550.2(TTN):c.2775+9C>T
|
rs2154350666
|
|
|
NM_001267550.2(TTN):c.2776-13T>C
|
|
|
|
NM_001267550.2(TTN):c.2776-13del
|
|
|
|
NM_001267550.2(TTN):c.2776-15T>C
|
|
|
|
NM_001267550.2(TTN):c.2776-20T>C
|
rs1347252672
|
|
|
NM_001267550.2(TTN):c.27813T>C (p.Asp9271=)
|
rs2154295797
|
|
|
NM_001267550.2(TTN):c.27840A>G (p.Glu9280=)
|
rs1162946272
|
|
|
NM_001267550.2(TTN):c.27849G>A (p.Val9283=)
|
rs397517525
|
|
|
NM_001267550.2(TTN):c.27861T>G (p.Ser9287=)
|
|
|
|
NM_001267550.2(TTN):c.27864A>G (p.Ala9288=)
|
|
|
|
NM_001267550.2(TTN):c.27879C>T (p.Thr9293=)
|
rs751693156
|
|
|
NM_001267550.2(TTN):c.27886+10A>G
|
rs397517526
|
|
|
NM_001267550.2(TTN):c.27887-4A>T
|
rs1553889394
|
|
|
NM_001267550.2(TTN):c.27887-7C>T
|
rs1446519993
|
|
|
NM_001267550.2(TTN):c.27887-8T>C
|
|
|
|
NM_001267550.2(TTN):c.27903A>G (p.Pro9301=)
|
|
|
|
NM_001267550.2(TTN):c.27906A>G (p.Ser9302=)
|
rs2154295353
|
|
|
NM_001267550.2(TTN):c.27919T>C (p.Leu9307=)
|
rs1482268373
|
|
|
NM_001267550.2(TTN):c.27933A>G (p.Gln9311=)
|
|
|
|
NM_001267550.2(TTN):c.27946C>T (p.Leu9316=)
|
|
|
|
NM_001267550.2(TTN):c.27951A>G (p.Pro9317=)
|
|
|
|
NM_001267550.2(TTN):c.27963T>C (p.Asp9321=)
|
|
|
|
NM_001267550.2(TTN):c.27978A>T (p.Gly9326=)
|
|
|
|
NM_001267550.2(TTN):c.27987T>A (p.Pro9329=)
|
rs890582110
|
|
|
NM_001267550.2(TTN):c.2799A>G (p.Pro933=)
|
|
|
|
NM_001267550.2(TTN):c.279T>C (p.Ala93=)
|
rs2154359804
|
|
|
NM_001267550.2(TTN):c.28021T>C (p.Leu9341=)
|
rs2076606691
|
|
|
NM_001267550.2(TTN):c.28032C>T (p.Ser9344=)
|
rs1338895544
|
|
|
NM_001267550.2(TTN):c.28044A>G (p.Gln9348=)
|
rs757855726
|
|
|
NM_001267550.2(TTN):c.28047A>G (p.Thr9349=)
|
rs575817028
|
|
|
NM_001267550.2(TTN):c.28071A>C (p.Thr9357=)
|
|
|
|
NM_001267550.2(TTN):c.28074C>T (p.Leu9358=)
|
|
|
|
NM_001267550.2(TTN):c.28077T>C (p.Asn9359=)
|
|
|
|
NM_001267550.2(TTN):c.28083T>C (p.Phe9361=)
|
|
|
|
NM_001267550.2(TTN):c.28128A>T (p.Thr9376=)
|
rs2076591371
|
|
|
NM_001267550.2(TTN):c.28140C>A (p.Gly9380=)
|
|
|
|
NM_001267550.2(TTN):c.28143T>C (p.Ser9381=)
|
|
|
|
NM_001267550.2(TTN):c.28161G>A (p.Arg9387=)
|
rs1577825107
|
|
|
NM_001267550.2(TTN):c.28174+11T>C
|
|
|
|
NM_001267550.2(TTN):c.28174+11del
|
|
|
|
NM_001267550.2(TTN):c.28174+7G>C
|
rs1478656719
|
|
|
NM_001267550.2(TTN):c.28175-13G>A
|
|
|
|
NM_001267550.2(TTN):c.28175-20T>C
|
|
|
|
NM_001267550.2(TTN):c.28175-7_28175-5del
|
|
|
|
NM_001267550.2(TTN):c.28175-9T>C
|
|
|
|
NM_001267550.2(TTN):c.28203C>T (p.Ile9401=)
|
rs2154295111
|
|
|
NM_001267550.2(TTN):c.28224T>C (p.Ala9408=)
|
rs2154295102
|
|
|
NM_001267550.2(TTN):c.28245C>T (p.Asp9415=)
|
|
|
|
NM_001267550.2(TTN):c.28248T>C (p.Phe9416=)
|
|
|
|
NM_001267550.2(TTN):c.28251G>A (p.Glu9417=)
|
rs773169301
|
|
|
NM_001267550.2(TTN):c.28281G>A (p.Lys9427=)
|
rs1207669528
|
|
|
NM_001267550.2(TTN):c.2829A>G (p.Pro943=)
|
rs2154350495
|
|
|
NM_001267550.2(TTN):c.28302C>T (p.Ser9434=)
|
rs898602147
|
|
|
NM_001267550.2(TTN):c.28308A>G (p.Glu9436=)
|
rs906433178
|
|
|
NM_001267550.2(TTN):c.28320C>A (p.Gly9440=)
|
rs375083775
|
|
|
NM_001267550.2(TTN):c.28377A>G (p.Val9459=)
|
|
|
|
NM_001267550.2(TTN):c.28395A>T (p.Gly9465=)
|
rs2154295032
|
|
|
NM_001267550.2(TTN):c.28404C>T (p.Thr9468=)
|
rs1459114444
|
|
|
NM_001267550.2(TTN):c.2841+12A>G
|
|
|
|
NM_001267550.2(TTN):c.2842-13C>T
|
rs1202062084
|
|
|
NM_001267550.2(TTN):c.2842-14T>C
|
|
|
|
NM_001267550.2(TTN):c.2842-15T>C
|
|
|
|
NM_001267550.2(TTN):c.2842-20A>C
|
|
|
|
NM_001267550.2(TTN):c.2842-20_2842-17del
|
rs752207098
|
|
|
NM_001267550.2(TTN):c.2842-6C>T
|
rs2154350132
|
|
|
NM_001267550.2(TTN):c.28434C>T (p.Asp9478=)
|
|
|
|
NM_001267550.2(TTN):c.28437T>A (p.Ser9479=)
|
|
|
|
NM_001267550.2(TTN):c.28440C>T (p.Cys9480=)
|
|
|
|
NM_001267550.2(TTN):c.28462+18A>G
|
|
|
|
NM_001267550.2(TTN):c.28462+20T>G
|
rs2154294991
|
|
|
NM_001267550.2(TTN):c.28463-14G>T
|
|
|
|
NM_001267550.2(TTN):c.28463-24AT[2]
|
rs769617035
|
|
|
NM_001267550.2(TTN):c.28467G>T (p.Arg9489=)
|
rs1296919666
|
|
|
NM_001267550.2(TTN):c.28476A>T (p.Pro9492=)
|
|
|
|
NM_001267550.2(TTN):c.28479A>G (p.Pro9493=)
|
|
|
|
NM_001267550.2(TTN):c.28497C>T (p.Leu9499=)
|
|
|
|
NM_001267550.2(TTN):c.28503G>A (p.Glu9501=)
|
rs2154294485
|
|
|
NM_001267550.2(TTN):c.2853T>C (p.Asn951=)
|
|
|
|
NM_001267550.2(TTN):c.28545A>C (p.Gly9515=)
|
|
|
|
NM_001267550.2(TTN):c.28626A>T (p.Ile9542=)
|
rs2154294417
|
|
|
NM_001267550.2(TTN):c.28653G>A (p.Leu9551=)
|
|
|
|
NM_001267550.2(TTN):c.28660A>C (p.Arg9554=)
|
|
|
|
NM_001267550.2(TTN):c.28689G>A (p.Leu9563=)
|
rs1383961338
|
|
|
NM_001267550.2(TTN):c.28698C>T (p.Cys9566=)
|
|
|
|
NM_001267550.2(TTN):c.28719C>T (p.Gly9573=)
|
|
|
|
NM_001267550.2(TTN):c.28722T>C (p.Ser9574=)
|
rs1577794660
|
|
|
NM_001267550.2(TTN):c.28726C>T (p.Leu9576=)
|
rs780753483
|
|
|
NM_001267550.2(TTN):c.28743C>A (p.Ile9581=)
|
|
|
|
NM_001267550.2(TTN):c.28753+15C>G
|
|
|
|
NM_001267550.2(TTN):c.28753+15C>T
|
|
|
|
NM_001267550.2(TTN):c.28753+16A>G
|
rs1470192163
|
|
|
NM_001267550.2(TTN):c.28753+20C>T
|
rs2154294310
|
|
|
NM_001267550.2(TTN):c.28753+9T>C
|
rs2076355695
|
|
|
NM_001267550.2(TTN):c.28754-14C>T
|
|
|
|
NM_001267550.2(TTN):c.28761G>A (p.Lys9587=)
|
rs2154293170
|
|
|
NM_001267550.2(TTN):c.2877T>A (p.Ser959=)
|
|
|
|
NM_001267550.2(TTN):c.2877T>C (p.Ser959=)
|
|
|
|
NM_001267550.2(TTN):c.28785C>T (p.His9595=)
|
rs773200956
|
|
|
NM_001267550.2(TTN):c.28788T>A (p.Leu9596=)
|
|
|
|
NM_001267550.2(TTN):c.28788T>C (p.Leu9596=)
|
|
|
|
NM_001267550.2(TTN):c.28794A>T (p.Pro9598=)
|
|
|
|
NM_001267550.2(TTN):c.28812A>G (p.Gly9604=)
|
rs2154293137
|
|
|
NM_001267550.2(TTN):c.28827C>T (p.Leu9609=)
|
rs1475068759
|
|
|
NM_001267550.2(TTN):c.2884T>C (p.Leu962=)
|
rs1574773808
|
|
|
NM_001267550.2(TTN):c.28860G>A (p.Arg9620=)
|
|
|
|
NM_001267550.2(TTN):c.28893G>A (p.Lys9631=)
|
rs1324979434
|
|
|
NM_001267550.2(TTN):c.2889G>A (p.Glu963=)
|
|
|
|
NM_001267550.2(TTN):c.288C>T (p.Leu96=)
|
rs878881293
|
|
|
NM_001267550.2(TTN):c.28965A>G (p.Ala9655=)
|
|
|
|
NM_001267550.2(TTN):c.28971G>C (p.Ser9657=)
|
|
|
|
NM_001267550.2(TTN):c.28977T>C (p.Asp9659=)
|
|
|
|
NM_001267550.2(TTN):c.28980T>C (p.Tyr9660=)
|
|
|
|
NM_001267550.2(TTN):c.28983G>A (p.Val9661=)
|
rs794727991
|
|
|
NM_001267550.2(TTN):c.28983G>T (p.Val9661=)
|
rs794727991
|
|
|
NM_001267550.2(TTN):c.28995A>C (p.Ser9665=)
|
rs2154293064
|
|
|
NM_001267550.2(TTN):c.29025A>G (p.Ser9675=)
|
|
|
|
NM_001267550.2(TTN):c.29041+11C>T
|
|
|
|
NM_001267550.2(TTN):c.29042-15dup
|
rs2154292674
|
|
|
NM_001267550.2(TTN):c.29042-16G>T
|
|
|
|
NM_001267550.2(TTN):c.29042-19C>T
|
rs1430170268
|
|
|
NM_001267550.2(TTN):c.29058C>T (p.Ala9686=)
|
|
|
|
NM_001267550.2(TTN):c.29073A>G (p.Lys9691=)
|
|
|
|
NM_001267550.2(TTN):c.29085T>C (p.Asp9695=)
|
|
|
|
NM_001267550.2(TTN):c.29094C>T (p.Leu9698=)
|
|
|
|
NM_001267550.2(TTN):c.2910A>G (p.Pro970=)
|
|
|
|
NM_001267550.2(TTN):c.29118T>C (p.Ser9706=)
|
|
|
|
NM_001267550.2(TTN):c.29127C>G (p.Val9709=)
|
rs769063245
|
|
|
NM_001267550.2(TTN):c.29127C>T (p.Val9709=)
|
rs769063245
|
|
|
NM_001267550.2(TTN):c.29130A>T (p.Val9710=)
|
rs2154292616
|
|
|
NM_001267550.2(TTN):c.29135-14T>A
|
|
|
|
NM_001267550.2(TTN):c.29135-15T>C
|
|
|
|
NM_001267550.2(TTN):c.29135-6C>T
|
rs2154292514
|
|
|
NM_001267550.2(TTN):c.29135-9A>T
|
rs2154292518
|
|
|
NM_001267550.2(TTN):c.2913C>T (p.Ser971=)
|
|
|
|
NM_001267550.2(TTN):c.29163T>G (p.Val9721=)
|
rs2154292489
|
|
|
NM_001267550.2(TTN):c.2922G>A (p.Val974=)
|
rs2154350098
|
|
|
NM_001267550.2(TTN):c.29232T>A (p.Arg9744=)
|
|
|
|
NM_001267550.2(TTN):c.29238C>T (p.Phe9746=)
|
rs727503640
|
|
|
NM_001267550.2(TTN):c.29253C>A (p.Gly9751=)
|
rs771825568
|
|
|
NM_001267550.2(TTN):c.2925A>G (p.Thr975=)
|
|
|
|
NM_001267550.2(TTN):c.29292T>C (p.Thr9764=)
|
|
|
|
NM_001267550.2(TTN):c.29301G>A (p.Gly9767=)
|
rs1382066984
|
|
|
NM_001267550.2(TTN):c.29301G>T (p.Gly9767=)
|
|
|
|
NM_001267550.2(TTN):c.29358A>G (p.Leu9786=)
|
|
|
|
NM_001267550.2(TTN):c.29367T>C (p.Asp9789=)
|
rs1577733010
|
|
|
NM_001267550.2(TTN):c.29376G>A (p.Lys9792=)
|
rs1560529237
|
|
|
NM_001267550.2(TTN):c.29382A>G (p.Gln9794=)
|
rs1057523227
|
|
|
NM_001267550.2(TTN):c.29420+11T>A
|
|
|
|
NM_001267550.2(TTN):c.29420+17C>A
|
rs1405934224
|
|
|
NM_001267550.2(TTN):c.29420+17C>T
|
|
|
|
NM_001267550.2(TTN):c.29421-20_29421-17del
|
|
|
|
NM_001267550.2(TTN):c.29421-7T>C
|
rs1553879938
|
|
|
NM_001267550.2(TTN):c.29439A>G (p.Lys9813=)
|
|
|
|
NM_001267550.2(TTN):c.29451A>G (p.Glu9817=)
|
rs747574892
|
|
|
NM_001267550.2(TTN):c.29457G>A (p.Glu9819=)
|
rs780561066
|
|
|
NM_001267550.2(TTN):c.29475A>G (p.Glu9825=)
|
|
|
|
NM_001267550.2(TTN):c.295+9C>T
|
|
|
|
NM_001267550.2(TTN):c.295+9_295+11del
|
|
|
|
NM_001267550.2(TTN):c.29529A>G (p.Gly9843=)
|
|
|
|
NM_001267550.2(TTN):c.29532C>T (p.Ile9844=)
|
rs2154291608
|
|
|
NM_001267550.2(TTN):c.29550T>C (p.Leu9850=)
|
|
|
|
NM_001267550.2(TTN):c.29580C>T (p.Ser9860=)
|
|
|
|
NM_001267550.2(TTN):c.29589A>G (p.Glu9863=)
|
rs2154291585
|
|
|
NM_001267550.2(TTN):c.2958C>T (p.Ser986=)
|
rs2154350081
|
|
|
NM_001267550.2(TTN):c.29595A>G (p.Thr9865=)
|
|
|
|
NM_001267550.2(TTN):c.29604+14T>C
|
|
|
|
NM_001267550.2(TTN):c.29604+15A>G
|
|
|
|
NM_001267550.2(TTN):c.29604+17A>T
|
rs2154291544
|
|
|
NM_001267550.2(TTN):c.29604+18T>C
|
|
|
|
NM_001267550.2(TTN):c.29604+20G>A
|
|
|
|
NM_001267550.2(TTN):c.29604+7T>C
|
rs727503639
|
|
|
NM_001267550.2(TTN):c.29605-10T>C
|
|
|
|
NM_001267550.2(TTN):c.29605-16T>A
|
rs2154291446
|
|
|
NM_001267550.2(TTN):c.29605-16T>C
|
|
|
|
NM_001267550.2(TTN):c.29605-17A>G
|
|
|
|
NM_001267550.2(TTN):c.29605-19T>G
|
|
|
|
NM_001267550.2(TTN):c.29628A>T (p.Ser9876=)
|
|
|
|
NM_001267550.2(TTN):c.29634G>A (p.Arg9878=)
|
rs2154291420
|
|
|
NM_001267550.2(TTN):c.29643G>A (p.Lys9881=)
|
|
|
|
NM_001267550.2(TTN):c.2964C>T (p.Asp988=)
|
rs2154350075
|
|
|
NM_001267550.2(TTN):c.29664A>C (p.Ser9888=)
|
rs377541656
|
|
|
NM_001267550.2(TTN):c.29680C>T (p.Leu9894=)
|
|
|
|
NM_001267550.2(TTN):c.29694+10A>G
|
rs868253161
|
|
|
NM_001267550.2(TTN):c.29694+14T>C
|
rs1458593107
|
|
|
NM_001267550.2(TTN):c.29694+8G>A
|
rs2075607228
|
|
|
NM_001267550.2(TTN):c.29694+8G>T
|
|
|
|
NM_001267550.2(TTN):c.29695-11T>C
|
|
|
|
NM_001267550.2(TTN):c.29695-14C>A
|
|
|
|
NM_001267550.2(TTN):c.29695-5C>T
|
rs2154291324
|
|
|
NM_001267550.2(TTN):c.29748T>C (p.Asp9916=)
|
|
|
|
NM_001267550.2(TTN):c.29799G>C (p.Ser9933=)
|
rs2742344
|
|
|
NM_001267550.2(TTN):c.29814T>G (p.Thr9938=)
|
|
|
|
NM_001267550.2(TTN):c.29925T>C (p.Cys9975=)
|
|
|
|
NM_001267550.2(TTN):c.29934C>T (p.His9978=)
|
|
|
|
NM_001267550.2(TTN):c.29962+14G>T
|
|
|
|
NM_001267550.2(TTN):c.29962+15G>A
|
|
|
|
NM_001267550.2(TTN):c.29962+18T>C
|
|
|
|
NM_001267550.2(TTN):c.29963-15G>A
|
|
|
|
NM_001267550.2(TTN):c.29963-20G>A
|
rs181332195
|
|
|
NM_001267550.2(TTN):c.29963-20G>C
|
|
|
|
NM_001267550.2(TTN):c.29979G>T (p.Arg9993=)
|
rs373179866
|
|
|
NM_001267550.2(TTN):c.29982T>C (p.His9994=)
|
rs2154291092
|
|
|
NM_001267550.2(TTN):c.30021C>T (p.Thr10007=)
|
|
|
|
NM_001267550.2(TTN):c.30039T>G (p.Ser10013=)
|
|
|
|
NM_001267550.2(TTN):c.30045A>C (p.Pro10015=)
|
rs1577700484
|
|
|
NM_001267550.2(TTN):c.30060A>G (p.Glu10020=)
|
rs764487564
|
|
|
NM_001267550.2(TTN):c.30075C>A (p.Gly10025=)
|
rs756458120
|
|
|
NM_001267550.2(TTN):c.30096T>C (p.Gly10032=)
|
rs2154291048
|
|
|
NM_001267550.2(TTN):c.3009C>T (p.Arg1003=)
|
rs2092903896
|
|
|
NM_001267550.2(TTN):c.30117A>G (p.Glu10039=)
|
rs772838964
|
|
|
NM_001267550.2(TTN):c.30192C>T (p.Asp10064=)
|
|
|
|
NM_001267550.2(TTN):c.30223+16T>C
|
|
|
|
NM_001267550.2(TTN):c.30223+18G>C
|
|
|
|
NM_001267550.2(TTN):c.30224-12G>A
|
|
|
|
NM_001267550.2(TTN):c.30224-19C>A
|
|
|
|
NM_001267550.2(TTN):c.30224-19C>G
|
|
|
|
NM_001267550.2(TTN):c.30246G>A (p.Lys10082=)
|
rs2154290057
|
|
|
NM_001267550.2(TTN):c.30261C>A (p.Ile10087=)
|
rs1486425150
|
|
|
NM_001267550.2(TTN):c.30261C>T (p.Ile10087=)
|
|
|
|
NM_001267550.2(TTN):c.30267G>A (p.Val10089=)
|
rs2154290042
|
|
|
NM_001267550.2(TTN):c.30267G>C (p.Val10089=)
|
|
|
|
NM_001267550.2(TTN):c.30288C>T (p.Thr10096=)
|
|
|
|
NM_001267550.2(TTN):c.30306C>G (p.Ser10102=)
|
|
|
|
NM_001267550.2(TTN):c.30321T>A (p.Ile10107=)
|
|
|
|
NM_001267550.2(TTN):c.30324A>G (p.Val10108=)
|
rs2154290022
|
|
|
NM_001267550.2(TTN):c.30327A>G (p.Thr10109=)
|
rs2154290016
|
|
|
NM_001267550.2(TTN):c.30348A>G (p.Glu10116=)
|
rs2154290008
|
|
|
NM_001267550.2(TTN):c.30357G>A (p.Glu10119=)
|
rs1560501974
|
|
|
NM_001267550.2(TTN):c.30408C>A (p.Ile10136=)
|
rs878862911
|
|
|
NM_001267550.2(TTN):c.30408C>T (p.Ile10136=)
|
rs878862911
|
|
|
NM_001267550.2(TTN):c.3042T>A (p.Thr1014=)
|
rs1187736528
|
|
|
NM_001267550.2(TTN):c.30433+11T>A
|
|
|
|
NM_001267550.2(TTN):c.30433+17T>C
|
|
|
|
NM_001267550.2(TTN):c.30433+18T>C
|
rs2154289939
|
|
|
NM_001267550.2(TTN):c.30433+9A>T
|
rs2154289950
|
|
|
NM_001267550.2(TTN):c.30434-16T>C
|
|
|
|
NM_001267550.2(TTN):c.30434-19G>A
|
rs2154289843
|
|
|
NM_001267550.2(TTN):c.30447C>A (p.Val10149=)
|
|
|
|
NM_001267550.2(TTN):c.30456G>C (p.Arg10152=)
|
rs764333790
|
|
|
NM_001267550.2(TTN):c.30486G>A (p.Thr10162=)
|
|
|
|
NM_001267550.2(TTN):c.30495G>A (p.Leu10165=)
|
rs1553874949
|
|
|
NM_001267550.2(TTN):c.30504G>A (p.Thr10168=)
|
|
|
|
NM_001267550.2(TTN):c.30511+11G>A
|
|
|
|
NM_001267550.2(TTN):c.30511+8A>G
|
rs2075120231
|
|
|
NM_001267550.2(TTN):c.30512-10T>A
|
|
|
|
NM_001267550.2(TTN):c.30512-11T>C
|
|
|
|
NM_001267550.2(TTN):c.30512-15T>A
|
|
|
|
NM_001267550.2(TTN):c.30512-15T>G
|
rs768015674
|
|
|
NM_001267550.2(TTN):c.30512-19T>C
|
|
|
|
NM_001267550.2(TTN):c.30528G>A (p.Leu10176=)
|
rs2154289669
|
|
|
NM_001267550.2(TTN):c.30538+11T>C
|
|
|
|
NM_001267550.2(TTN):c.30538+13G>A
|
rs1385757504
|
|
|
NM_001267550.2(TTN):c.30538+16A>G
|
|
|
|
NM_001267550.2(TTN):c.30539-10C>T
|
rs2154289344
|
|
|
NM_001267550.2(TTN):c.30539-12G>A
|
|
|
|
NM_001267550.2(TTN):c.30539-13T>C
|
|
|
|
NM_001267550.2(TTN):c.30539-14A>G
|
|
|
|
NM_001267550.2(TTN):c.30539-20T>C
|
|
|
|
NM_001267550.2(TTN):c.30539-4C>A
|
|
|
|
NM_001267550.2(TTN):c.30539-8C>T
|
|
|
|
NM_001267550.2(TTN):c.30539-9C>T
|
rs548609202
|
|
|
NM_001267550.2(TTN):c.30564C>A (p.Ile10188=)
|
|
|
|
NM_001267550.2(TTN):c.30570C>A (p.Thr10190=)
|
rs531598218
|
|
|
NM_001267550.2(TTN):c.30598+10A>C
|
|
|
|
NM_001267550.2(TTN):c.30598+14C>T
|
|
|
|
NM_001267550.2(TTN):c.30598+19A>G
|
rs371363074
|
|
|
NM_001267550.2(TTN):c.30598+7C>T
|
|
|
|
NM_001267550.2(TTN):c.30598+9C>G
|
|
|
|
NM_001267550.2(TTN):c.30599-18G>A
|
|
|
|
NM_001267550.2(TTN):c.30599-6C>T
|
rs372535015
|
|
|
NM_001267550.2(TTN):c.30609T>C (p.Pro10203=)
|
rs1577654335
|
|
|
NM_001267550.2(TTN):c.30615T>G (p.Val10205=)
|
rs1577654107
|
|
|
NM_001267550.2(TTN):c.30648C>A (p.Pro10216=)
|
|
|
|
NM_001267550.2(TTN):c.30648C>T (p.Pro10216=)
|
rs765611174
|
|
|
NM_001267550.2(TTN):c.30651A>G (p.Glu10217=)
|
rs1008835155
|
|
|
NM_001267550.2(TTN):c.30654A>G (p.Glu10218=)
|
|
|
|
NM_001267550.2(TTN):c.30682+12C>T
|
|
|
|
NM_001267550.2(TTN):c.30682+13del
|
|
|
|
NM_001267550.2(TTN):c.30683-13T>C
|
|
|
|
NM_001267550.2(TTN):c.30683-17T>C
|
|
|
|
NM_001267550.2(TTN):c.30683-18_30683-15del
|
rs2154286705
|
|
|
NM_001267550.2(TTN):c.30683-18_30683-16del
|
|
|
|
NM_001267550.2(TTN):c.30683-18_30683-17del
|
rs2154286716
|
|
|
NM_001267550.2(TTN):c.30683-18_30683-5del
|
|
|
|
NM_001267550.2(TTN):c.30683-18_30683-8del
|
|
|
|
NM_001267550.2(TTN):c.30683-18_30683-9del
|
rs775388232
|
|
|
NM_001267550.2(TTN):c.30683-20T>C
|
|
|
|
NM_001267550.2(TTN):c.30683-21_30683-19del
|
rs752002029
|
|
|
NM_001267550.2(TTN):c.30683-28_30683-14del
|
rs776394673
|
|
|
NM_001267550.2(TTN):c.30683-28_30683-15del
|
rs761485138
|
|
|
NM_001267550.2(TTN):c.30683-28_30683-16del
|
rs764830728
|
|
|
NM_001267550.2(TTN):c.30683-28_30683-17del
|
rs749882267
|
|
|
NM_001267550.2(TTN):c.30683-28_30683-18del
|
|
|
|
NM_001267550.2(TTN):c.30683-4T>C
|
rs2074227288
|
|
|
NM_001267550.2(TTN):c.30687C>T (p.Thr10229=)
|
rs1353082213
|
|
|
NM_001267550.2(TTN):c.30696T>C (p.Ala10232=)
|
|
|
|
NM_001267550.2(TTN):c.30717A>G (p.Lys10239=)
|
|
|
|
NM_001267550.2(TTN):c.30754+14T>C
|
|
|
|
NM_001267550.2(TTN):c.30754+8A>G
|
rs1060503958
|
|
|
NM_001267550.2(TTN):c.30755-3del
|
|
|
|
NM_001267550.2(TTN):c.30755-4C>T
|
|
|
|
NM_001267550.2(TTN):c.30786C>G (p.Thr10262=)
|
rs2154284149
|
|
|
NM_001267550.2(TTN):c.30787T>C (p.Leu10263=)
|
rs756015749
|
|
|
NM_001267550.2(TTN):c.30803-12dup
|
|
|
|
NM_001267550.2(TTN):c.30803-19G>A
|
|
|
|
NM_001267550.2(TTN):c.30803-7A>G
|
rs779342990
|
|
|
NM_001267550.2(TTN):c.30843A>G (p.Val10281=)
|
rs2154282965
|
|
|
NM_001267550.2(TTN):c.3084C>T (p.Cys1028=)
|
rs2154349998
|
|
|
NM_001267550.2(TTN):c.30858A>C (p.Ile10286=)
|
|
|
|
NM_001267550.2(TTN):c.30870A>G (p.Lys10290=)
|
|
|
|
NM_001267550.2(TTN):c.30882A>G (p.Lys10294=)
|
|
|
|
NM_001267550.2(TTN):c.30912A>G (p.Gln10304=)
|
|
|
|
NM_001267550.2(TTN):c.30942T>C (p.Ile10314=)
|
|
|
|
NM_001267550.2(TTN):c.30963T>C (p.Tyr10321=)
|
|
|
|
NM_001267550.2(TTN):c.3096G>T (p.Val1032=)
|
rs879114879
|
|
|
NM_001267550.2(TTN):c.3100+10C>T
|
|
|
|
NM_001267550.2(TTN):c.3100+14C>T
|
rs2092895677
|
|
|
NM_001267550.2(TTN):c.3100+17C>T
|
|
|
|
NM_001267550.2(TTN):c.3100+18C>T
|
|
|
|
NM_001267550.2(TTN):c.3100+8G>A
|
|
|
|
NM_001267550.2(TTN):c.3101-10C>T
|
|
|
|
NM_001267550.2(TTN):c.3101-17C>T
|
|
|
|
NM_001267550.2(TTN):c.3101-8T>C
|
|
|
|
NM_001267550.2(TTN):c.31011T>C (p.Tyr10337=)
|
|
|
|
NM_001267550.2(TTN):c.31014T>C (p.Tyr10338=)
|
rs397517536
|
|
|
NM_001267550.2(TTN):c.31044T>C (p.Ile10348=)
|
|
|
|
NM_001267550.2(TTN):c.31089T>C (p.Asp10363=)
|
|
|
|
NM_001267550.2(TTN):c.31104A>G (p.Gln10368=)
|
|
|
|
NM_001267550.2(TTN):c.31143G>A (p.Glu10381=)
|
|
|
|
NM_001267550.2(TTN):c.31149G>A (p.Glu10383=)
|
rs727504724
|
|
|
NM_001267550.2(TTN):c.31200C>A (p.Val10400=)
|
|
|
|
NM_001267550.2(TTN):c.31203T>C (p.Tyr10401=)
|
|
|
|
NM_001267550.2(TTN):c.31208-10_31208-8del
|
rs758770490
|
|
|
NM_001267550.2(TTN):c.31208-13G>C
|
|
|
|
NM_001267550.2(TTN):c.31208-13_31208-12del
|
|
|
|
NM_001267550.2(TTN):c.31208-15G>A
|
|
|
|
NM_001267550.2(TTN):c.31208-19T>C
|
|
|
|
NM_001267550.2(TTN):c.31208-9T>G
|
|
|
|
NM_001267550.2(TTN):c.31209A>G (p.Glu10403=)
|
|
|
|
NM_001267550.2(TTN):c.31212A>G (p.Ser10404=)
|
|
|
|
NM_001267550.2(TTN):c.31242T>A (p.Pro10414=)
|
rs2154282457
|
|
|
NM_001267550.2(TTN):c.31242T>C (p.Pro10414=)
|
|
|
|
NM_001267550.2(TTN):c.31260A>C (p.Pro10420=)
|
|
|
|
NM_001267550.2(TTN):c.31263T>C (p.Pro10421=)
|
rs2154282447
|
|
|
NM_001267550.2(TTN):c.31270+18T>C
|
|
|
|
NM_001267550.2(TTN):c.31270+8del
|
rs750965338
|
|
|
NM_001267550.2(TTN):c.31271-13A>C
|
|
|
|
NM_001267550.2(TTN):c.31271-14T>C
|
rs2073324974
|
|
|
NM_001267550.2(TTN):c.31271-17C>T
|
|
|
|
NM_001267550.2(TTN):c.31271-19T>G
|
|
|
|
NM_001267550.2(TTN):c.31271-4G>T
|
rs2073322104
|
|
|
NM_001267550.2(TTN):c.31281G>A (p.Lys10427=)
|
rs868824599
|
|
|
NM_001267550.2(TTN):c.31290T>C (p.Ile10430=)
|
rs1577541788
|
|
|
NM_001267550.2(TTN):c.31299T>C (p.Ile10433=)
|
|
|
|
NM_001267550.2(TTN):c.312C>A (p.Pro104=)
|
|
|
|
NM_001267550.2(TTN):c.312C>T (p.Pro104=)
|
|
|
|
NM_001267550.2(TTN):c.31323G>A (p.Glu10441=)
|
rs2154282032
|
|
|
NM_001267550.2(TTN):c.31338A>G (p.Gln10446=)
|
|
|
|
NM_001267550.2(TTN):c.31348+15A>G
|
|
|
|
NM_001267550.2(TTN):c.31348+17T>C
|
|
|
|
NM_001267550.2(TTN):c.31348+9T>G
|
|
|
|
NM_001267550.2(TTN):c.31349-13_31349-12delinsAC
|
|
|
|
NM_001267550.2(TTN):c.31349-16G>A
|
|
|
|
NM_001267550.2(TTN):c.31349-18T>G
|
|
|
|
NM_001267550.2(TTN):c.31353T>A (p.Pro10451=)
|
rs1176651732
|
|
|
NM_001267550.2(TTN):c.31362A>C (p.Ser10454=)
|
|
|
|
NM_001267550.2(TTN):c.3138T>A (p.Thr1046=)
|
rs1060503945
|
|
|
NM_001267550.2(TTN):c.3138T>G (p.Thr1046=)
|
|
|
|
NM_001267550.2(TTN):c.31416T>C (p.Ile10472=)
|
rs1378402765
|
|
|
NM_001267550.2(TTN):c.31426+18T>C
|
|
|
|
NM_001267550.2(TTN):c.31427-12C>A
|
|
|
|
NM_001267550.2(TTN):c.31427-18G>A
|
|
|
|
NM_001267550.2(TTN):c.31427-9T>C
|
|
|
|
NM_001267550.2(TTN):c.31455T>C (p.Val10485=)
|
rs1299416122
|
|
|
NM_001267550.2(TTN):c.3147T>C (p.Phe1049=)
|
rs754601149
|
|
|
NM_001267550.2(TTN):c.31506A>G (p.Ser10502=)
|
|
|
|
NM_001267550.2(TTN):c.31513+12del
|
|
|
|
NM_001267550.2(TTN):c.31513+18A>C
|
rs2154281366
|
|
|
NM_001267550.2(TTN):c.31514-13A>G
|
|
|
|
NM_001267550.2(TTN):c.31514-4del
|
rs776720259
|
|
|
NM_001267550.2(TTN):c.31542T>C (p.Thr10514=)
|
rs876657602
|
|
|
NM_001267550.2(TTN):c.31557C>T (p.His10519=)
|
|
|
|
NM_001267550.2(TTN):c.31575G>A (p.Arg10525=)
|
rs188251302
|
|
|
NM_001267550.2(TTN):c.31594+13C>A
|
|
|
|
NM_001267550.2(TTN):c.31595-11T>G
|
|
|
|
NM_001267550.2(TTN):c.31595-17G>T
|
|
|
|
NM_001267550.2(TTN):c.31595-20A>C
|
rs2072735992
|
|
|
NM_001267550.2(TTN):c.31595-4A>G
|
rs2154280433
|
|
|
NM_001267550.2(TTN):c.31635C>T (p.Ala10545=)
|
rs2072721432
|
|
|
NM_001267550.2(TTN):c.3164+20A>C
|
|
|
|
NM_001267550.2(TTN):c.3164+8A>G
|
|
|
|
NM_001267550.2(TTN):c.3165-4C>A
|
|
|
|
NM_001267550.2(TTN):c.3165-4C>T
|
|
|
|
NM_001267550.2(TTN):c.31659G>A (p.Val10553=)
|
rs767178132
|
|
|
NM_001267550.2(TTN):c.31679-13T>C
|
rs1175226964
|
|
|
NM_001267550.2(TTN):c.31722A>C (p.Pro10574=)
|
|
|
|
NM_001267550.2(TTN):c.31752T>C (p.Ala10584=)
|
|
|
|
NM_001267550.2(TTN):c.31762+19T>G
|
|
|
|
NM_001267550.2(TTN):c.31762+7C>A
|
rs1031319399
|
|
|
NM_001267550.2(TTN):c.31763-17G>A
|
|
|
|
NM_001267550.2(TTN):c.31763-17_31763-16del
|
|
|
|
NM_001267550.2(TTN):c.31763-18T>C
|
|
|
|
NM_001267550.2(TTN):c.31763-6dup
|
rs1192352676
|
|
|
NM_001267550.2(TTN):c.31791T>C (p.Pro10597=)
|
rs397517539
|
|
|
NM_001267550.2(TTN):c.31827G>A (p.Lys10609=)
|
rs1462666636
|
|
|
NM_001267550.2(TTN):c.31833T>C (p.Ala10611=)
|
|
|
|
NM_001267550.2(TTN):c.31839A>C (p.Pro10613=)
|
|
|
|
NM_001267550.2(TTN):c.31846+11T>C
|
|
|
|
NM_001267550.2(TTN):c.31846+12T>C
|
rs2071870775
|
|
|
NM_001267550.2(TTN):c.31846+15G>A
|
|
|
|
NM_001267550.2(TTN):c.31847-9C>G
|
|
|
|
NM_001267550.2(TTN):c.31875A>G (p.Thr10625=)
|
|
|
|
NM_001267550.2(TTN):c.31893T>C (p.Ile10631=)
|
rs2071785174
|
|
|
NM_001267550.2(TTN):c.31927+12C>A
|
|
|
|
NM_001267550.2(TTN):c.31927+15C>G
|
rs2071770233
|
|
|
NM_001267550.2(TTN):c.31927+17C>A
|
|
|
|
NM_001267550.2(TTN):c.31928-11T>C
|
|
|
|
NM_001267550.2(TTN):c.31928-15del
|
|
|
|
NM_001267550.2(TTN):c.31928-16A>T
|
|
|
|
NM_001267550.2(TTN):c.31928-7C>T
|
|
|
|
NM_001267550.2(TTN):c.31928-9T>C
|
|
|
|
NM_001267550.2(TTN):c.31965G>A (p.Arg10655=)
|
|
|
|
NM_001267550.2(TTN):c.31980G>A (p.Arg10660=)
|
|
|
|
NM_001267550.2(TTN):c.32011+7dup
|
rs1577454770
|
|
|
NM_001267550.2(TTN):c.32012-13A>C
|
|
|
|
NM_001267550.2(TTN):c.32012-14T>C
|
|
|
|
NM_001267550.2(TTN):c.32012-8C>T
|
|
|
|
NM_001267550.2(TTN):c.32037C>T (p.Val10679=)
|
|
|
|
NM_001267550.2(TTN):c.32043G>A (p.Glu10681=)
|
|
|
|
NM_001267550.2(TTN):c.32046G>A (p.Glu10682=)
|
rs2154278050
|
|
|
NM_001267550.2(TTN):c.32055A>C (p.Ala10685=)
|
rs2154278041
|
|
|
NM_001267550.2(TTN):c.3207C>T (p.Leu1069=)
|
|
|
|
NM_001267550.2(TTN):c.32092C>A (p.Arg10698=)
|
|
|
|
NM_001267550.2(TTN):c.32096-13C>T
|
|
|
|
NM_001267550.2(TTN):c.32096-8del
|
|
|
|
NM_001267550.2(TTN):c.32118T>C (p.Val10706=)
|
|
|
|
NM_001267550.2(TTN):c.32136T>C (p.Phe10712=)
|
|
|
|
NM_001267550.2(TTN):c.32142T>C (p.Ala10714=)
|
|
|
|
NM_001267550.2(TTN):c.32154A>G (p.Leu10718=)
|
|
|
|
NM_001267550.2(TTN):c.32163A>G (p.Ala10721=)
|
|
|
|
NM_001267550.2(TTN):c.32178G>A (p.Val10726=)
|
|
|
|
NM_001267550.2(TTN):c.32193C>T (p.His10731=)
|
|
|
|
NM_001267550.2(TTN):c.32197+15G>T
|
|
|
|
NM_001267550.2(TTN):c.32197+18del
|
|
|
|
NM_001267550.2(TTN):c.32197+7A>G
|
rs1577441971
|
|
|
NM_001267550.2(TTN):c.32198-11A>G
|
|
|
|
NM_001267550.2(TTN):c.32198-15C>A
|
|
|
|
NM_001267550.2(TTN):c.32198-19G>C
|
|
|
|
NM_001267550.2(TTN):c.32199A>G (p.Val10733=)
|
rs769008912
|
|
|
NM_001267550.2(TTN):c.32199A>T (p.Val10733=)
|
rs769008912
|
|
|
NM_001267550.2(TTN):c.32214A>G (p.Glu10738=)
|
rs2154277347
|
|
|
NM_001267550.2(TTN):c.32238A>G (p.Glu10746=)
|
|
|
|
NM_001267550.2(TTN):c.32253A>C (p.Ser10751=)
|
rs2071380560
|
|
|
NM_001267550.2(TTN):c.3228T>C (p.Pro1076=)
|
rs876657604
|
|
|
NM_001267550.2(TTN):c.32301A>C (p.Thr10767=)
|
|
|
|
NM_001267550.2(TTN):c.32301A>G (p.Thr10767=)
|
|
|
|
NM_001267550.2(TTN):c.32311+15T>C
|
|
|
|
NM_001267550.2(TTN):c.32312-12C>T
|
rs2154275548
|
|
|
NM_001267550.2(TTN):c.32312-13G>A
|
|
|
|
NM_001267550.2(TTN):c.32368A>C (p.Arg10790=)
|
|
|
|
NM_001267550.2(TTN):c.3237T>C (p.Pro1079=)
|
|
|
|
NM_001267550.2(TTN):c.32385A>C (p.Pro10795=)
|
rs2154275511
|
|
|
NM_001267550.2(TTN):c.32392+12_32392+15del
|
|
|
|
NM_001267550.2(TTN):c.32392+15T>C
|
|
|
|
NM_001267550.2(TTN):c.32392+19T>C
|
|
|
|
NM_001267550.2(TTN):c.32393-12A>C
|
|
|
|
NM_001267550.2(TTN):c.32393-14A>G
|
rs2154275385
|
|
|
NM_001267550.2(TTN):c.32393-16T>G
|
rs2154275386
|
|
|
NM_001267550.2(TTN):c.32393-7T>C
|
|
|
|
NM_001267550.2(TTN):c.32403G>A (p.Arg10801=)
|
|
|
|
NM_001267550.2(TTN):c.32406G>A (p.Gln10802=)
|
rs779469817
|
|
|
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr)
|
rs55914517
|
|
|
NM_001267550.2(TTN):c.32427A>G (p.Lys10809=)
|
|
|
|
NM_001267550.2(TTN):c.32463G>A (p.Pro10821=)
|
rs987167890
|
|
|
NM_001267550.2(TTN):c.32463G>C (p.Pro10821=)
|
|
|
|
NM_001267550.2(TTN):c.32470+10C>A
|
|
|
|
NM_001267550.2(TTN):c.32470+13T>C
|
|
|
|
NM_001267550.2(TTN):c.32471-14T>A
|
|
|
|
NM_001267550.2(TTN):c.32471-18A>T
|
|
|
|
NM_001267550.2(TTN):c.324A>G (p.Gln108=)
|
|
|
|
NM_001267550.2(TTN):c.32517T>C (p.Ala10839=)
|
|
|
|
NM_001267550.2(TTN):c.32538G>A (p.Lys10846=)
|
rs753667120
|
|
|
NM_001267550.2(TTN):c.32554+18_32554+22del
|
|
|
|
NM_001267550.2(TTN):c.32555-12G>A
|
|
|
|
NM_001267550.2(TTN):c.32556G>A (p.Val10852=)
|
|
|
|
NM_001267550.2(TTN):c.32595T>G (p.Val10865=)
|
|
|
|
NM_001267550.2(TTN):c.32638+13C>T
|
rs781170626
|
|
|
NM_001267550.2(TTN):c.32638+15C>G
|
|
|
|
NM_001267550.2(TTN):c.32638+15C>T
|
|
|
|
NM_001267550.2(TTN):c.32638+17A>G
|
|
|
|
NM_001267550.2(TTN):c.32658A>G (p.Gln10886=)
|
|
|
|
NM_001267550.2(TTN):c.32664C>A (p.Thr10888=)
|
|
|
|
NM_001267550.2(TTN):c.32667G>A (p.Gln10889=)
|
rs1449221797
|
|
|
NM_001267550.2(TTN):c.32706G>T (p.Ala10902=)
|
rs372124201
|
|
|
NM_001267550.2(TTN):c.32712A>G (p.Pro10904=)
|
|
|
|
NM_001267550.2(TTN):c.32722+13T>G
|
|
|
|
NM_001267550.2(TTN):c.32722+16C>T
|
|
|
|
NM_001267550.2(TTN):c.32722+9G>T
|
rs148231130
|
|
|
NM_001267550.2(TTN):c.32723-5T>C
|
|
|
|
NM_001267550.2(TTN):c.32727A>T (p.Pro10909=)
|
rs756675105
|
|
|
NM_001267550.2(TTN):c.32736G>T (p.Pro10912=)
|
rs368838709
|
|
|
NM_001267550.2(TTN):c.3277C>T (p.Leu1093=)
|
|
|
|
NM_001267550.2(TTN):c.32790G>A (p.Glu10930=)
|
rs2154274077
|
|
|
NM_001267550.2(TTN):c.32793A>G (p.Glu10931=)
|
|
|
|
NM_001267550.2(TTN):c.32807-13T>C
|
|
|
|
NM_001267550.2(TTN):c.32807-16A>G
|
|
|
|
NM_001267550.2(TTN):c.32807-19A>C
|
|
|
|
NM_001267550.2(TTN):c.32850A>C (p.Ser10950=)
|
rs2154273143
|
|
|
NM_001267550.2(TTN):c.32850A>T (p.Ser10950=)
|
rs2154273143
|
|
|
NM_001267550.2(TTN):c.32866A>C (p.Arg10956=)
|
|
|
|
NM_001267550.2(TTN):c.32887+11C>G
|
|
|
|
NM_001267550.2(TTN):c.32887+13T>C
|
|
|
|
NM_001267550.2(TTN):c.32887+15G>C
|
|
|
|
NM_001267550.2(TTN):c.32887+17T>C
|
rs2154273045
|
|
|
NM_001267550.2(TTN):c.32887+9A>C
|
|
|
|
NM_001267550.2(TTN):c.32888-19G>A
|
rs141514650
|
|
|
NM_001267550.2(TTN):c.3291G>C (p.Gly1097=)
|
|
|
|
NM_001267550.2(TTN):c.32928A>G (p.Leu10976=)
|
|
|
|
NM_001267550.2(TTN):c.3294C>T (p.Ser1098=)
|
rs745660374
|
|
|
NM_001267550.2(TTN):c.32955G>A (p.Arg10985=)
|
|
|
|
NM_001267550.2(TTN):c.32979A>G (p.Glu10993=)
|
|
|
|
NM_001267550.2(TTN):c.33003G>A (p.Glu11001=)
|
rs751526531
|
|
|
NM_001267550.2(TTN):c.33052C>A (p.Arg11018=)
|
|
|
|
NM_001267550.2(TTN):c.33064C>A (p.Arg11022=)
|
|
|
|
NM_001267550.2(TTN):c.3306A>T (p.Gly1102=)
|
|
|
|
NM_001267550.2(TTN):c.33075G>A (p.Glu11025=)
|
|
|
|
NM_001267550.2(TTN):c.33094+13C>G
|
|
|
|
NM_001267550.2(TTN):c.33094+14T>G
|
|
|
|
NM_001267550.2(TTN):c.33094+9A>C
|
rs890015887
|
|
|
NM_001267550.2(TTN):c.33095-14A>G
|
|
|
|
NM_001267550.2(TTN):c.33095-14A>T
|
|
|
|
NM_001267550.2(TTN):c.33095-17T>C
|
|
|
|
NM_001267550.2(TTN):c.33095-19C>A
|
|
|
|
NM_001267550.2(TTN):c.33095-19C>T
|
|
|
|
NM_001267550.2(TTN):c.33095-6T>C
|
|
|
|
NM_001267550.2(TTN):c.33095-9C>A
|
|
|
|
NM_001267550.2(TTN):c.33095-9del
|
|
|
|
NM_001267550.2(TTN):c.3309C>T (p.Cys1103=)
|
rs1467686861
|
|
|
NM_001267550.2(TTN):c.330G>A (p.Leu110=)
|
rs778271204
|
|
|
NM_001267550.2(TTN):c.33108T>A (p.Pro11036=)
|
|
|
|
NM_001267550.2(TTN):c.33126C>G (p.Val11042=)
|
rs72650036
|
|
|
NM_001267550.2(TTN):c.33159C>T (p.Ala11053=)
|
|
|
|
NM_001267550.2(TTN):c.33162A>C (p.Pro11054=)
|
|
|
|
NM_001267550.2(TTN):c.33172+19T>C
|
|
|
|
NM_001267550.2(TTN):c.33173-11A>G
|
|
|
|
NM_001267550.2(TTN):c.33174G>A (p.Val11058=)
|
rs1219892531
|
|
|
NM_001267550.2(TTN):c.3318C>G (p.Gly1106=)
|
rs141768043
|
|
|
NM_001267550.2(TTN):c.33198A>G (p.Glu11066=)
|
|
|
|
NM_001267550.2(TTN):c.33204A>G (p.Val11068=)
|
|
|
|
NM_001267550.2(TTN):c.33213C>T (p.Pro11071=)
|
|
|
|
NM_001267550.2(TTN):c.33240A>G (p.Pro11080=)
|
rs2154270977
|
|
|
NM_001267550.2(TTN):c.33240A>T (p.Pro11080=)
|
rs2154270977
|
|
|
NM_001267550.2(TTN):c.33247+19A>T
|
|
|
|
NM_001267550.2(TTN):c.33248-13A>C
|
|
|
|
NM_001267550.2(TTN):c.33248-13A>G
|
|
|
|
NM_001267550.2(TTN):c.33248-14T>C
|
rs2154270829
|
|
|
NM_001267550.2(TTN):c.33248-4A>T
|
|
|
|
NM_001267550.2(TTN):c.33249G>A (p.Val11083=)
|
rs773979636
|
|
|
NM_001267550.2(TTN):c.33252T>C (p.Pro11084=)
|
|
|
|
NM_001267550.2(TTN):c.33276G>A (p.Glu11092=)
|
rs1057523198
|
|
|
NM_001267550.2(TTN):c.33288T>C (p.Arg11096=)
|
|
|
|
NM_001267550.2(TTN):c.33297T>C (p.Ile11099=)
|
|
|
|
NM_001267550.2(TTN):c.33318G>A (p.Gln11106=)
|
|
|
|
NM_001267550.2(TTN):c.33333T>G (p.Ala11111=)
|
|
|
|
NM_001267550.2(TTN):c.33340+8G>C
|
|
|
|
NM_001267550.2(TTN):c.33341-20C>T
|
|
|
|
NM_001267550.2(TTN):c.33341-4C>T
|
rs1577329628
|
|
|
NM_001267550.2(TTN):c.33342G>A (p.Val11114=)
|
rs1577329587
|
|
|
NM_001267550.2(TTN):c.33354C>G (p.Pro11118=)
|
|
|
|
NM_001267550.2(TTN):c.33360G>A (p.Arg11120=)
|
rs2154270305
|
|
|
NM_001267550.2(TTN):c.3336T>C (p.His1112=)
|
rs2154349668
|
|
|
NM_001267550.2(TTN):c.33384T>A (p.Pro11128=)
|
|
|
|
NM_001267550.2(TTN):c.3339A>G (p.Val1113=)
|
|
|
|
NM_001267550.2(TTN):c.33418+10G>A
|
|
|
|
NM_001267550.2(TTN):c.33418+11G>A
|
|
|
|
NM_001267550.2(TTN):c.33418+11del
|
rs779637808
|
|
|
NM_001267550.2(TTN):c.33418+12del
|
|
|
|
NM_001267550.2(TTN):c.33418+13A>G
|
rs2154270231
|
|
|
NM_001267550.2(TTN):c.33418+14C>G
|
rs1481386826
|
|
|
NM_001267550.2(TTN):c.33418+15T>G
|
|
|
|
NM_001267550.2(TTN):c.33418+8A>G
|
|
|
|
NM_001267550.2(TTN):c.33419-16G>A
|
|
|
|
NM_001267550.2(TTN):c.33429G>C (p.Val11143=)
|
|
|
|
NM_001267550.2(TTN):c.3342C>T (p.Tyr1114=)
|
rs1427583041
|
|
|
NM_001267550.2(TTN):c.33540C>T (p.Phe11180=)
|
rs1577324161
|
|
|
NM_001267550.2(TTN):c.33558G>T (p.Val11186=)
|
rs1389245451
|
|
|
NM_001267550.2(TTN):c.33570A>T (p.Ile11190=)
|
|
|
|
NM_001267550.2(TTN):c.3357T>C (p.Gly1119=)
|
rs2154349653
|
|
|
NM_001267550.2(TTN):c.33580+12del
|
|
|
|
NM_001267550.2(TTN):c.33580+14C>G
|
rs1357526514
|
|
|
NM_001267550.2(TTN):c.33580+15C>T
|
|
|
|
NM_001267550.2(TTN):c.33580+7G>A
|
|
|
|
NM_001267550.2(TTN):c.33580+8A>C
|
rs1416294540
|
|
|
NM_001267550.2(TTN):c.33581-11T>C
|
rs2068888256
|
|
|
NM_001267550.2(TTN):c.33581-6T>C
|
|
|
|
NM_001267550.2(TTN):c.33588G>A (p.Glu11196=)
|
rs2154269878
|
|
|
NM_001267550.2(TTN):c.33597G>A (p.Arg11199=)
|
|
|
|
NM_001267550.2(TTN):c.33618G>A (p.Lys11206=)
|
|
|
|
NM_001267550.2(TTN):c.3364C>T (p.Leu1122=)
|
rs2154349646
|
|
|
NM_001267550.2(TTN):c.33664+16T>C
|
|
|
|
NM_001267550.2(TTN):c.33664+18G>A
|
rs2154269790
|
|
|
NM_001267550.2(TTN):c.33665-10A>T
|
|
|
|
NM_001267550.2(TTN):c.33665-19A>G
|
|
|
|
NM_001267550.2(TTN):c.33687A>G (p.Pro11229=)
|
rs2068811951
|
|
|
NM_001267550.2(TTN):c.3369C>T (p.Thr1123=)
|
rs2154349644
|
|
|
NM_001267550.2(TTN):c.33742+10T>A
|
|
|
|
NM_001267550.2(TTN):c.33742+16C>T
|
|
|
|
NM_001267550.2(TTN):c.33743-14T>G
|
rs2154269351
|
|
|
NM_001267550.2(TTN):c.33743-19C>G
|
|
|
|
NM_001267550.2(TTN):c.33743-6T>G
|
|
|
|
NM_001267550.2(TTN):c.33743-9T>C
|
rs1383292065
|
|
|
NM_001267550.2(TTN):c.33747T>C (p.Pro11249=)
|
|
|
|
NM_001267550.2(TTN):c.3381-13C>T
|
|
|
|
NM_001267550.2(TTN):c.3381-16G>C
|
rs1375876123
|
|
|
NM_001267550.2(TTN):c.3381-19T>C
|
|
|
|
NM_001267550.2(TTN):c.33813T>C (p.Ala11271=)
|
rs1281755701
|
|
|
NM_001267550.2(TTN):c.33813T>G (p.Ala11271=)
|
|
|
|
NM_001267550.2(TTN):c.33826+15A>C
|
|
|
|
NM_001267550.2(TTN):c.33826+16A>G
|
|
|
|
NM_001267550.2(TTN):c.33826+19T>C
|
|
|
|
NM_001267550.2(TTN):c.33826+7G>A
|
rs752099208
|
|
|
NM_001267550.2(TTN):c.33826+7G>T
|
rs752099208
|
|
|
NM_001267550.2(TTN):c.33827-12A>G
|
|
|
|
NM_001267550.2(TTN):c.33827-13C>G
|
rs1402564356
|
|
|
NM_001267550.2(TTN):c.33827-4A>C
|
|
|
|
NM_001267550.2(TTN):c.33827-7G>T
|
rs1365231174
|
|
|
NM_001267550.2(TTN):c.33885G>A (p.Lys11295=)
|
|
|
|
NM_001267550.2(TTN):c.33910+11T>C
|
|
|
|
NM_001267550.2(TTN):c.33910+14T>G
|
|
|
|
NM_001267550.2(TTN):c.33911-11T>C
|
|
|
|
NM_001267550.2(TTN):c.33911-14T>C
|
|
|
|
NM_001267550.2(TTN):c.33911-20T>C
|
|
|
|
NM_001267550.2(TTN):c.33911-9T>A
|
|
|
|
NM_001267550.2(TTN):c.33912G>T (p.Val11304=)
|
|
|
|
NM_001267550.2(TTN):c.33924C>A (p.Pro11308=)
|
|
|
|
NM_001267550.2(TTN):c.33939A>G (p.Pro11313=)
|
|
|
|
NM_001267550.2(TTN):c.33975G>A (p.Val11325=)
|
rs1560303919
|
|
|
NM_001267550.2(TTN):c.33987A>C (p.Pro11329=)
|
|
|
|
NM_001267550.2(TTN):c.33994+19G>A
|
|
|
|
NM_001267550.2(TTN):c.33994+7T>C
|
|
|
|
NM_001267550.2(TTN):c.33994+9A>C
|
rs2154268922
|
|
|
NM_001267550.2(TTN):c.33995-16A>G
|
|
|
|
NM_001267550.2(TTN):c.33995-18G>T
|
rs767774726
|
|
|
NM_001267550.2(TTN):c.33995-5T>C
|
rs774359312
|
|
|
NM_001267550.2(TTN):c.33995-6T>G
|
|
|
|
NM_001267550.2(TTN):c.34011A>G (p.Glu11337=)
|
|
|
|
NM_001267550.2(TTN):c.34077T>G (p.Pro11359=)
|
|
|
|
NM_001267550.2(TTN):c.34086A>G (p.Glu11362=)
|
rs2154268754
|
|
|
NM_001267550.2(TTN):c.34092A>T (p.Leu11364=)
|
rs765888527
|
|
|
NM_001267550.2(TTN):c.34113A>G (p.Leu11371=)
|
|
|
|
NM_001267550.2(TTN):c.34119G>A (p.Glu11373=)
|
rs548399416
|
|
|
NM_001267550.2(TTN):c.34132C>T (p.Leu11378=)
|
rs960128787
|
|
|
NM_001267550.2(TTN):c.34134A>C (p.Leu11378=)
|
rs575740245
|
|
|
NM_001267550.2(TTN):c.34140A>G (p.Glu11380=)
|
rs147418835
|
|
|
NM_001267550.2(TTN):c.34146G>A (p.Glu11382=)
|
rs1560300288
|
|
|
NM_001267550.2(TTN):c.34161A>G (p.Glu11387=)
|
rs780975680
|
|
|
NM_001267550.2(TTN):c.34173T>C (p.Ile11391=)
|
|
|
|
NM_001267550.2(TTN):c.3417C>T (p.Cys1139=)
|
|
|
|
NM_001267550.2(TTN):c.34191A>G (p.Glu11397=)
|
|
|
|
NM_001267550.2(TTN):c.34212T>C (p.Tyr11404=)
|
|
|
|
NM_001267550.2(TTN):c.34236A>G (p.Val11412=)
|
|
|
|
NM_001267550.2(TTN):c.34239T>C (p.Pro11413=)
|
|
|
|
NM_001267550.2(TTN):c.34251C>A (p.Val11417=)
|
|
|
|
NM_001267550.2(TTN):c.34251C>G (p.Val11417=)
|
rs368972294
|
|
|
NM_001267550.2(TTN):c.34275G>T (p.Val11425=)
|
|
|
|
NM_001267550.2(TTN):c.34291+12C>T
|
|
|
|
NM_001267550.2(TTN):c.34291+17T>C
|
|
|
|
NM_001267550.2(TTN):c.34291+19G>A
|
|
|
|
NM_001267550.2(TTN):c.34291+7C>T
|
rs1577290426
|
|
|
NM_001267550.2(TTN):c.34291+9G>A
|
|
|
|
NM_001267550.2(TTN):c.34291+9_34291+10delinsAG
|
rs2154268582
|
|
|
NM_001267550.2(TTN):c.34292-18A>C
|
rs2154268300
|
|
|
NM_001267550.2(TTN):c.34292-9G>A
|
rs1577285224
|
|
|
NM_001267550.2(TTN):c.34314T>C (p.Pro11438=)
|
rs993206696
|
|
|
NM_001267550.2(TTN):c.3432T>C (p.Ser1144=)
|
rs1574739722
|
|
|
NM_001267550.2(TTN):c.34335T>G (p.Pro11445=)
|
rs2154268254
|
|
|
NM_001267550.2(TTN):c.34344C>T (p.Ala11448=)
|
|
|
|
NM_001267550.2(TTN):c.34356G>T (p.Val11452=)
|
rs2154268233
|
|
|
NM_001267550.2(TTN):c.34378+12C>T
|
|
|
|
NM_001267550.2(TTN):c.34378+13A>G
|
rs2154268202
|
|
|
NM_001267550.2(TTN):c.34378+14A>C
|
rs759443400
|
|
|
NM_001267550.2(TTN):c.34378+18G>T
|
|
|
|
NM_001267550.2(TTN):c.34378+8dup
|
|
|
|
NM_001267550.2(TTN):c.34379-13G>C
|
rs1391671163
|
|
|
NM_001267550.2(TTN):c.34379-9T>C
|
|
|
|
NM_001267550.2(TTN):c.34416G>A (p.Val11472=)
|
rs754009879
|
|
|
NM_001267550.2(TTN):c.34425C>T (p.Pro11475=)
|
rs2154267433
|
|
|
NM_001267550.2(TTN):c.34453+14G>C
|
|
|
|
NM_001267550.2(TTN):c.34453+18T>C
|
|
|
|
NM_001267550.2(TTN):c.34453+20A>G
|
|
|
|
NM_001267550.2(TTN):c.34454-10A>G
|
rs2154267293
|
|
|
NM_001267550.2(TTN):c.34454-12A>G
|
rs1452074495
|
|
|
NM_001267550.2(TTN):c.34454-4A>T
|
rs1319663707
|
|
|
NM_001267550.2(TTN):c.34473A>G (p.Lys11491=)
|
rs1218273224
|
|
|
NM_001267550.2(TTN):c.34491G>A (p.Lys11497=)
|
rs764860706
|
|
|
NM_001267550.2(TTN):c.34537+11C>T
|
|
|
|
NM_001267550.2(TTN):c.34537+13A>G
|
|
|
|
NM_001267550.2(TTN):c.34537+20G>T
|
|
|
|
NM_001267550.2(TTN):c.34538-10G>A
|
|
|
|
NM_001267550.2(TTN):c.34538-14C>T
|
|
|
|
NM_001267550.2(TTN):c.34538-18T>A
|
rs2154266870
|
|
|
NM_001267550.2(TTN):c.34538-7T>C
|
rs2067758061
|
|
|
NM_001267550.2(TTN):c.34548G>A (p.Val11516=)
|
rs1400343685
|
|
|
NM_001267550.2(TTN):c.34581C>T (p.Leu11527=)
|
rs781699559
|
|
|
NM_001267550.2(TTN):c.34596A>G (p.Glu11532=)
|
rs2067738782
|
|
|
NM_001267550.2(TTN):c.345G>C (p.Val115=)
|
rs1163742186
|
|
|
NM_001267550.2(TTN):c.34602A>G (p.Leu11534=)
|
|
|
|
NM_001267550.2(TTN):c.34613-10C>A
|
rs536191523
|
|
|
NM_001267550.2(TTN):c.34613-17T>C
|
|
|
|
NM_001267550.2(TTN):c.34613-18A>C
|
rs372828399
|
|
|
NM_001267550.2(TTN):c.34613-25_34613-14del
|
|
|
|
NM_001267550.2(TTN):c.34620G>A (p.Glu11540=)
|
rs2154266461
|
|
|
NM_001267550.2(TTN):c.34623G>A (p.Glu11541=)
|
rs1553814697
|
|
|
NM_001267550.2(TTN):c.34632A>G (p.Glu11544=)
|
|
|
|
NM_001267550.2(TTN):c.34641T>C (p.Ile11547=)
|
rs1577246475
|
|
|
NM_001267550.2(TTN):c.34674C>T (p.Ser11558=)
|
rs1195308025
|
|
|
NM_001267550.2(TTN):c.34701A>G (p.Pro11567=)
|
rs2154266422
|
|
|
NM_001267550.2(TTN):c.34704T>A (p.Pro11568=)
|
|
|
|
NM_001267550.2(TTN):c.34708+10C>G
|
rs2067585344
|
|
|
NM_001267550.2(TTN):c.34708+8C>T
|
rs762808097
|
|
|
NM_001267550.2(TTN):c.34708+9G>A
|
rs397517551
|
|
|
NM_001267550.2(TTN):c.34708+9G>T
|
rs397517551
|
|
|
NM_001267550.2(TTN):c.34709-16T>C
|
|
|
|
NM_001267550.2(TTN):c.34709-8C>A
|
|
|
|
NM_001267550.2(TTN):c.34709-8_34709-4del
|
|
|
|
NM_001267550.2(TTN):c.34719G>A (p.Val11573=)
|
|
|
|
NM_001267550.2(TTN):c.34719G>C (p.Val11573=)
|
|
|
|
NM_001267550.2(TTN):c.34719G>T (p.Val11573=)
|
rs2067431814
|
|
|
NM_001267550.2(TTN):c.34722T>C (p.Ile11574=)
|
|
|
|
NM_001267550.2(TTN):c.34731A>G (p.Ala11577=)
|
|
|
|
NM_001267550.2(TTN):c.34749T>A (p.Thr11583=)
|
|
|
|
NM_001267550.2(TTN):c.34786+16A>G
|
|
|
|
NM_001267550.2(TTN):c.34787-12A>G
|
rs1023726354
|
|
|
NM_001267550.2(TTN):c.34787-12A>T
|
|
|
|
NM_001267550.2(TTN):c.34787-19A>G
|
|
|
|
NM_001267550.2(TTN):c.34787-8C>A
|
|
|
|
NM_001267550.2(TTN):c.34806G>A (p.Glu11602=)
|
rs960959727
|
|
|
NM_001267550.2(TTN):c.34855+20C>A
|
|
|
|
NM_001267550.2(TTN):c.34855+7C>T
|
rs397517552
|
|
|
NM_001267550.2(TTN):c.34855+9_34855+11del
|
rs1196572661
|
|
|
NM_001267550.2(TTN):c.34856-4A>C
|
|
|
|
NM_001267550.2(TTN):c.34860T>C (p.Pro11620=)
|
rs2154265284
|
|
|
NM_001267550.2(TTN):c.34863A>G (p.Glu11621=)
|
rs2067179453
|
|
|
NM_001267550.2(TTN):c.34866A>C (p.Val11622=)
|
rs2154265272
|
|
|
NM_001267550.2(TTN):c.34899G>A (p.Val11633=)
|
|
|
|
NM_001267550.2(TTN):c.34902T>C (p.Pro11634=)
|
rs2154265252
|
|
|
NM_001267550.2(TTN):c.34930+11A>G
|
|
|
|
NM_001267550.2(TTN):c.34931-19A>T
|
|
|
|
NM_001267550.2(TTN):c.34931-7C>T
|
rs1399634823
|
|
|
NM_001267550.2(TTN):c.34938T>G (p.Thr11646=)
|
|
|
|
NM_001267550.2(TTN):c.34941C>T (p.Val11647=)
|
|
|
|
NM_001267550.2(TTN):c.34953A>G (p.Lys11651=)
|
|
|
|
NM_001267550.2(TTN):c.34956A>G (p.Val11652=)
|
rs968242803
|
|
|
NM_001267550.2(TTN):c.3495T>A (p.Thr1165=)
|
|
|
|
NM_001267550.2(TTN):c.34971C>A (p.Arg11657=)
|
rs2067128451
|
|
|
NM_001267550.2(TTN):c.34977A>G (p.Glu11659=)
|
rs2154265058
|
|
|
NM_001267550.2(TTN):c.34996C>T (p.Leu11666=)
|
rs1008889151
|
|
|
NM_001267550.2(TTN):c.3501A>C (p.Ala1167=)
|
rs764659004
|
|
|
NM_001267550.2(TTN):c.3501A>T (p.Ala1167=)
|
rs764659004
|
|
|
NM_001267550.2(TTN):c.35025G>A (p.Val11675=)
|
rs1047010138
|
|
|
NM_001267550.2(TTN):c.35055T>C (p.His11685=)
|
rs371193038
|
|
|
NM_001267550.2(TTN):c.35079A>G (p.Glu11693=)
|
rs779550415
|
|
|
NM_001267550.2(TTN):c.3510C>T (p.Ser1170=)
|
|
|
|
NM_001267550.2(TTN):c.35124T>C (p.His11708=)
|
rs1553809060
|
|
|
NM_001267550.2(TTN):c.35160T>C (p.His11720=)
|
|
|
|
NM_001267550.2(TTN):c.35193G>A (p.Val11731=)
|
rs1303996939
|
|
|
NM_001267550.2(TTN):c.3519A>G (p.Glu1173=)
|
|
|
|
NM_001267550.2(TTN):c.35211A>G (p.Pro11737=)
|
rs1308954903
|
|
|
NM_001267550.2(TTN):c.35227+7G>A
|
|
|
|
NM_001267550.2(TTN):c.35228-19A>C
|
|
|
|
NM_001267550.2(TTN):c.35228-6T>C
|
rs1399428209
|
|
|
NM_001267550.2(TTN):c.35228-9T>A
|
rs537626868
|
|
|
NM_001267550.2(TTN):c.3523+15A>G
|
|
|
|
NM_001267550.2(TTN):c.3523+18T>G
|
|
|
|
NM_001267550.2(TTN):c.3523+20C>G
|
|
|
|
NM_001267550.2(TTN):c.3523+9A>C
|
rs727503700
|
|
|
NM_001267550.2(TTN):c.3523G>A (p.Ala1175Thr)
|
rs397517570
|
|
|
NM_001267550.2(TTN):c.3524-16T>C
|
rs932601453
|
|
|
NM_001267550.2(TTN):c.3524-7C>T
|
rs2154348290
|
|
|
NM_001267550.2(TTN):c.35250C>A (p.Ile11750=)
|
|
|
|
NM_001267550.2(TTN):c.35283T>G (p.Val11761=)
|
|
|
|
NM_001267550.2(TTN):c.35295G>A (p.Glu11765=)
|
rs1386775513
|
|
|
NM_001267550.2(TTN):c.35308+8C>T
|
|
|
|
NM_001267550.2(TTN):c.35309-15C>T
|
rs2154263887
|
|
|
NM_001267550.2(TTN):c.35309-16A>C
|
|
|
|
NM_001267550.2(TTN):c.35309-8C>T
|
|
|
|
NM_001267550.2(TTN):c.35328A>G (p.Lys11776=)
|
rs879101062
|
|
|
NM_001267550.2(TTN):c.35334G>T (p.Val11778=)
|
rs747444188
|
|
|
NM_001267550.2(TTN):c.35358T>A (p.Pro11786=)
|
|
|
|
NM_001267550.2(TTN):c.35367C>T (p.Pro11789=)
|
rs2154263803
|
|
|
NM_001267550.2(TTN):c.35386+7G>C
|
rs1483876295
|
|
|
NM_001267550.2(TTN):c.35387-7T>C
|
|
|
|
NM_001267550.2(TTN):c.35387-8C>T
|
|
|
|
NM_001267550.2(TTN):c.35391C>T (p.Pro11797=)
|
|
|
|
NM_001267550.2(TTN):c.35400C>A (p.Pro11800=)
|
rs547896195
|
|
|
NM_001267550.2(TTN):c.35400C>T (p.Pro11800=)
|
|
|
|
NM_001267550.2(TTN):c.35412C>A (p.Val11804=)
|
|
|
|
NM_001267550.2(TTN):c.35412C>T (p.Val11804=)
|
rs2154263451
|
|
|
NM_001267550.2(TTN):c.35415A>C (p.Pro11805=)
|
|
|
|
NM_001267550.2(TTN):c.35421A>G (p.Glu11807=)
|
rs1577187868
|
|
|
NM_001267550.2(TTN):c.35436T>G (p.Ala11812=)
|
rs2154263429
|
|
|
NM_001267550.2(TTN):c.35466T>C (p.Ala11822=)
|
|
|
|
NM_001267550.2(TTN):c.3546G>A (p.Lys1182=)
|
rs1272182819
|
|
|
NM_001267550.2(TTN):c.35470+17A>G
|
|
|
|
NM_001267550.2(TTN):c.35471-17T>C
|
|
|
|
NM_001267550.2(TTN):c.35475T>G (p.Pro11825=)
|
rs2154263284
|
|
|
NM_001267550.2(TTN):c.35487G>A (p.Lys11829=)
|
rs1577184414
|
|
|
NM_001267550.2(TTN):c.35493T>C (p.Ser11831=)
|
rs1553803616
|
|
|
NM_001267550.2(TTN):c.35502A>G (p.Glu11834=)
|
rs923099588
|
|
|
NM_001267550.2(TTN):c.35511A>T (p.Ser11837=)
|
rs763980218
|
|
|
NM_001267550.2(TTN):c.35545+15A>C
|
|
|
|
NM_001267550.2(TTN):c.35545+16T>C
|
|
|
|
NM_001267550.2(TTN):c.35546-7T>C
|
|
|
|
NM_001267550.2(TTN):c.35607G>A (p.Lys11869=)
|
|
|
|
NM_001267550.2(TTN):c.35619A>G (p.Lys11873=)
|
|
|
|
NM_001267550.2(TTN):c.35629+13A>T
|
|
|
|
NM_001267550.2(TTN):c.35629+14A>G
|
|
|
|
NM_001267550.2(TTN):c.35629+20C>T
|
rs2154262064
|
|
|
NM_001267550.2(TTN):c.35629+7A>G
|
rs2154262081
|
|
|
NM_001267550.2(TTN):c.35629+9C>T
|
|
|
|
NM_001267550.2(TTN):c.35630-13_35630-11del
|
|
|
|
NM_001267550.2(TTN):c.35630-15C>T
|
|
|
|
NM_001267550.2(TTN):c.35631G>A (p.Val11877=)
|
rs2154262000
|
|
|
NM_001267550.2(TTN):c.35634T>C (p.Pro11878=)
|
|
|
|
NM_001267550.2(TTN):c.35637G>A (p.Glu11879=)
|
|
|
|
NM_001267550.2(TTN):c.35652T>G (p.Val11884=)
|
rs1577157940
|
|
|
NM_001267550.2(TTN):c.35673T>C (p.Tyr11891=)
|
|
|
|
NM_001267550.2(TTN):c.35679T>G (p.Thr11893=)
|
rs2154261951
|
|
|
NM_001267550.2(TTN):c.35703A>G (p.Pro11901=)
|
|
|
|
NM_001267550.2(TTN):c.35713+12A>T
|
rs2154261914
|
|
|
NM_001267550.2(TTN):c.35713+13T>A
|
|
|
|
NM_001267550.2(TTN):c.35713+13T>C
|
|
|
|
NM_001267550.2(TTN):c.35713+16A>T
|
|
|
|
NM_001267550.2(TTN):c.35713+9C>A
|
rs2154261917
|
|
|
NM_001267550.2(TTN):c.35714-14T>C
|
|
|
|
NM_001267550.2(TTN):c.35714-18C>A
|
|
|
|
NM_001267550.2(TTN):c.35714-4A>G
|
rs2154261852
|
|
|
NM_001267550.2(TTN):c.35714-9T>C
|
rs748421318
|
|
|
NM_001267550.2(TTN):c.35724A>G (p.Thr11908=)
|
|
|
|
NM_001267550.2(TTN):c.35727C>T (p.Thr11909=)
|
rs1577154607
|
|
|
NM_001267550.2(TTN):c.3573A>G (p.Thr1191=)
|
|
|
|
NM_001267550.2(TTN):c.35797+12T>C
|
|
|
|
NM_001267550.2(TTN):c.35797+14G>A
|
rs201205432
|
|
|
NM_001267550.2(TTN):c.35797+14G>T
|
|
|
|
NM_001267550.2(TTN):c.35797+19G>A
|
|
|
|
NM_001267550.2(TTN):c.35797+20A>G
|
|
|
|
NM_001267550.2(TTN):c.35797+7T>C
|
|
|
|
NM_001267550.2(TTN):c.35798-10A>T
|
rs2154261580
|
|
|
NM_001267550.2(TTN):c.35798-13A>T
|
|
|
|
NM_001267550.2(TTN):c.35798-15C>A
|
|
|
|
NM_001267550.2(TTN):c.35808C>G (p.Val11936=)
|
|
|
|
NM_001267550.2(TTN):c.35817A>G (p.Glu11939=)
|
|
|
|
NM_001267550.2(TTN):c.35820C>T (p.Val11940=)
|
rs1577148476
|
|
|
NM_001267550.2(TTN):c.35832A>G (p.Gly11944=)
|
rs2154261540
|
|
|
NM_001267550.2(TTN):c.35841T>A (p.Pro11947=)
|
|
|
|
NM_001267550.2(TTN):c.35844T>A (p.Ile11948=)
|
rs1182927069
|
|
|
NM_001267550.2(TTN):c.35862A>G (p.Thr11954=)
|
|
|
|
NM_001267550.2(TTN):c.35865A>G (p.Pro11955=)
|
|
|
|
NM_001267550.2(TTN):c.35875+11G>A
|
|
|
|
NM_001267550.2(TTN):c.35875+7G>A
|
|
|
|
NM_001267550.2(TTN):c.35876-12A>G
|
rs1298134440
|
|
|
NM_001267550.2(TTN):c.35876-14T>C
|
rs889256993
|
|
|
NM_001267550.2(TTN):c.35876-17C>T
|
rs1011510513
|
|
|
NM_001267550.2(TTN):c.35876-8C>T
|
rs1577134964
|
|
|
NM_001267550.2(TTN):c.35877G>A (p.Val11959=)
|
rs1489614087
|
|
|
NM_001267550.2(TTN):c.3588T>C (p.Phe1196=)
|
|
|
|
NM_001267550.2(TTN):c.35904T>C (p.Pro11968=)
|
|
|
|
NM_001267550.2(TTN):c.3594A>G (p.Gln1198=)
|
|
|
|
NM_001267550.2(TTN):c.35952C>T (p.Pro11984=)
|
|
|
|
NM_001267550.2(TTN):c.35959+11T>C
|
|
|
|
NM_001267550.2(TTN):c.35959+18A>G
|
rs2154260767
|
|
|
NM_001267550.2(TTN):c.35960-18A>C
|
|
|
|
NM_001267550.2(TTN):c.35960-4A>G
|
|
|
|
NM_001267550.2(TTN):c.35960-6T>C
|
|
|
|
NM_001267550.2(TTN):c.35960-8C>T
|
|
|
|
NM_001267550.2(TTN):c.36000A>T (p.Ile12000=)
|
|
|
|
NM_001267550.2(TTN):c.36030T>G (p.Thr12010=)
|
rs879740984
|
|
|
NM_001267550.2(TTN):c.36043+19A>T
|
|
|
|
NM_001267550.2(TTN):c.36043+7T>C
|
rs2065741084
|
|
|
NM_001267550.2(TTN):c.36044-11T>C
|
rs2154260231
|
|
|
NM_001267550.2(TTN):c.36044-14T>G
|
|
|
|
NM_001267550.2(TTN):c.36044-15C>G
|
|
|
|
NM_001267550.2(TTN):c.36044-18T>C
|
|
|
|
NM_001267550.2(TTN):c.36072T>C (p.Pro12024=)
|
rs1321454101
|
|
|
NM_001267550.2(TTN):c.36081A>T (p.Thr12027=)
|
rs2154260187
|
|
|
NM_001267550.2(TTN):c.36118+16C>A
|
|
|
|
NM_001267550.2(TTN):c.36118+9C>A
|
|
|
|
NM_001267550.2(TTN):c.36119-15A>C
|
|
|
|
NM_001267550.2(TTN):c.36119-4A>G
|
rs894776408
|
|
|
NM_001267550.2(TTN):c.36120G>A (p.Val12040=)
|
|
|
|
NM_001267550.2(TTN):c.36135A>G (p.Gln12045=)
|
rs777172309
|
|
|
NM_001267550.2(TTN):c.36159G>C (p.Thr12053=)
|
rs773862719
|
|
|
NM_001267550.2(TTN):c.36174C>A (p.Leu12058=)
|
rs878910324
|
|
|
NM_001267550.2(TTN):c.36198T>C (p.Asp12066=)
|
rs751425228
|
|
|
NM_001267550.2(TTN):c.36202+10G>C
|
rs765321861
|
|
|
NM_001267550.2(TTN):c.36202+12T>C
|
|
|
|
NM_001267550.2(TTN):c.36202+17G>A
|
|
|
|
NM_001267550.2(TTN):c.36202+18C>T
|
|
|
|
NM_001267550.2(TTN):c.36202+8T>C
|
rs2154259998
|
|
|
NM_001267550.2(TTN):c.36203-10A>G
|
rs1577116121
|
|
|
NM_001267550.2(TTN):c.36203-11T>C
|
|
|
|
NM_001267550.2(TTN):c.36203-13A>C
|
|
|
|
NM_001267550.2(TTN):c.36203-15T>C
|
|
|
|
NM_001267550.2(TTN):c.36203-16A>G
|
|
|
|
NM_001267550.2(TTN):c.36203-19A>T
|
|
|
|
NM_001267550.2(TTN):c.36203-7T>C
|
|
|
|
NM_001267550.2(TTN):c.36280+11_36280+19del
|
|
|
|
NM_001267550.2(TTN):c.36280+14del
|
|
|
|
NM_001267550.2(TTN):c.36280+15G>C
|
|
|
|
NM_001267550.2(TTN):c.36280+17C>A
|
|
|
|
NM_001267550.2(TTN):c.36280+19T>G
|
|
|
|
NM_001267550.2(TTN):c.36281-10A>G
|
rs1301425587
|
|
|
NM_001267550.2(TTN):c.36281-10A>T
|
|
|
|
NM_001267550.2(TTN):c.36281-15C>G
|
|
|
|
NM_001267550.2(TTN):c.36281-4C>T
|
rs942066800
|
|
|
NM_001267550.2(TTN):c.36281-8C>T
|
|
|
|
NM_001267550.2(TTN):c.36294C>A (p.Pro12098=)
|
|
|
|
NM_001267550.2(TTN):c.36300G>A (p.Glu12100=)
|
rs1239180284
|
|
|
NM_001267550.2(TTN):c.36306C>T (p.Ile12102=)
|
rs2154259405
|
|
|
NM_001267550.2(TTN):c.3630A>G (p.Val1210=)
|
|
|
|
NM_001267550.2(TTN):c.36321G>A (p.Val12107=)
|
rs1185417313
|
|
|
NM_001267550.2(TTN):c.36324G>C (p.Ser12108=)
|
|
|
|
NM_001267550.2(TTN):c.36336T>A (p.Pro12112=)
|
rs2154259355
|
|
|
NM_001267550.2(TTN):c.36360T>G (p.Val12120=)
|
|
|
|
NM_001267550.2(TTN):c.36364+11C>G
|
|
|
|
NM_001267550.2(TTN):c.36364+12T>G
|
|
|
|
NM_001267550.2(TTN):c.36364+15C>G
|
rs1339057661
|
|
|
NM_001267550.2(TTN):c.36364+16T>G
|
|
|
|
NM_001267550.2(TTN):c.36364+19A>G
|
rs747151789
|
|
|
NM_001267550.2(TTN):c.36365-17C>A
|
rs1251709245
|
|
|
NM_001267550.2(TTN):c.36366G>A (p.Val12122=)
|
|
|
|
NM_001267550.2(TTN):c.36375T>C (p.Ala12125=)
|
|
|
|
NM_001267550.2(TTN):c.36378C>T (p.Ser12126=)
|
rs1465995861
|
|
|
NM_001267550.2(TTN):c.36387T>C (p.Val12129=)
|
rs1407977080
|
|
|
NM_001267550.2(TTN):c.36387T>G (p.Val12129=)
|
rs1407977080
|
|
|
NM_001267550.2(TTN):c.36390C>A (p.Ile12130=)
|
rs564173285
|
|
|
NM_001267550.2(TTN):c.36393C>G (p.Arg12131=)
|
rs555029471
|
|
|
NM_001267550.2(TTN):c.36417T>G (p.Pro12139=)
|
|
|
|
NM_001267550.2(TTN):c.36420T>G (p.Pro12140=)
|
|
|
|
NM_001267550.2(TTN):c.36448+12T>G
|
|
|
|
NM_001267550.2(TTN):c.36448+7G>A
|
rs2154259040
|
|
|
NM_001267550.2(TTN):c.36448+8C>T
|
|
|
|
NM_001267550.2(TTN):c.36448+9C>G
|
rs2154259039
|
|
|
NM_001267550.2(TTN):c.36449-12A>C
|
|
|
|
NM_001267550.2(TTN):c.36449-20T>C
|
|
|
|
NM_001267550.2(TTN):c.36456G>A (p.Glu12152=)
|
|
|
|
NM_001267550.2(TTN):c.36459T>C (p.Pro12153=)
|
|
|
|
NM_001267550.2(TTN):c.3645A>G (p.Glu1215=)
|
|
|
|
NM_001267550.2(TTN):c.36462C>A (p.Pro12154=)
|
rs762026317
|
|
|
NM_001267550.2(TTN):c.36471A>T (p.Val12157=)
|
rs2154258874
|
|
|
NM_001267550.2(TTN):c.36474T>C (p.Val12158=)
|
rs1481466061
|
|
|
NM_001267550.2(TTN):c.36477T>C (p.Pro12159=)
|
rs770559196
|
|
|
NM_001267550.2(TTN):c.36483G>A (p.Lys12161=)
|
rs2154258858
|
|
|
NM_001267550.2(TTN):c.36486A>G (p.Lys12162=)
|
rs1249356656
|
|
|
NM_001267550.2(TTN):c.36489G>T (p.Ala12163=)
|
rs115493456
|
|
|
NM_001267550.2(TTN):c.36504T>C (p.Pro12168=)
|
|
|
|
NM_001267550.2(TTN):c.36532+11C>G
|
rs768495522
|
|
|
NM_001267550.2(TTN):c.36532+13G>C
|
|
|
|
NM_001267550.2(TTN):c.36532+15T>C
|
|
|
|
NM_001267550.2(TTN):c.36532+4dup
|
rs1577094147
|
|
|
NM_001267550.2(TTN):c.36532+5_36532+6dup
|
rs1577094147
|
|
|
NM_001267550.2(TTN):c.36532+7G>C
|
|
|
|
NM_001267550.2(TTN):c.36532+8T>C
|
|
|
|
NM_001267550.2(TTN):c.36533-16_36533-15delinsCT
|
rs2154258704
|
|
|
NM_001267550.2(TTN):c.36533-5T>G
|
|
|
|
NM_001267550.2(TTN):c.36533-9T>A
|
|
|
|
NM_001267550.2(TTN):c.3654T>C (p.Tyr1218=)
|
rs2092628894
|
|
|
NM_001267550.2(TTN):c.36555T>A (p.Val12185=)
|
rs2065152509
|
|
|
NM_001267550.2(TTN):c.36616+7A>G
|
|
|
|
NM_001267550.2(TTN):c.36616+8C>A
|
rs2065137036
|
|
|
NM_001267550.2(TTN):c.36618C>T (p.Val12206=)
|
rs777734136
|
|
|
NM_001267550.2(TTN):c.36627G>T (p.Val12209=)
|
rs2065116413
|
|
|
NM_001267550.2(TTN):c.36645A>T (p.Pro12215=)
|
rs2154258534
|
|
|
NM_001267550.2(TTN):c.36720G>A (p.Pro12240=)
|
rs2065045773
|
|
|
NM_001267550.2(TTN):c.36753G>A (p.Val12251=)
|
rs1553788597
|
|
|
NM_001267550.2(TTN):c.36759T>C (p.Pro12253=)
|
rs2154258276
|
|
|
NM_001267550.2(TTN):c.36771A>G (p.Pro12257=)
|
rs2065039450
|
|
|
NM_001267550.2(TTN):c.36777T>C (p.Ala12259=)
|
|
|
|
NM_001267550.2(TTN):c.36874+4dup
|
rs2154258027
|
|
|
NM_001267550.2(TTN):c.36874+8T>C
|
rs1577079340
|
|
|
NM_001267550.2(TTN):c.36875-10A>G
|
rs2154257951
|
|
|
NM_001267550.2(TTN):c.36879T>A (p.Pro12293=)
|
rs2154257946
|
|
|
NM_001267550.2(TTN):c.36958+9C>T
|
rs1060503964
|
|
|
NM_001267550.2(TTN):c.3696T>C (p.Asp1232=)
|
|
|
|
NM_001267550.2(TTN):c.36981C>A (p.Ala12327=)
|
rs2154257845
|
|
|
NM_001267550.2(TTN):c.3699T>G (p.Thr1233=)
|
rs759703962
|
|
|
NM_001267550.2(TTN):c.37005T>A (p.Ala12335=)
|
rs1300033485
|
|
|
NM_001267550.2(TTN):c.37005T>C (p.Ala12335=)
|
rs1300033485
|
|
|
NM_001267550.2(TTN):c.37029A>T (p.Pro12343=)
|
rs200163049
|
|
|
NM_001267550.2(TTN):c.3702A>G (p.Val1234=)
|
rs1472830831
|
|
|
NM_001267550.2(TTN):c.37083G>A (p.Lys12361=)
|
rs1271000954
|
|
|
NM_001267550.2(TTN):c.37107C>T (p.Ala12369=)
|
rs2154257701
|
|
|
NM_001267550.2(TTN):c.37149A>G (p.Pro12383=)
|
rs2064835879
|
|
|
NM_001267550.2(TTN):c.3717T>C (p.Tyr1239=)
|
|
|
|
NM_001267550.2(TTN):c.37227C>T (p.Val12409=)
|
rs1577071120
|
|
|
NM_001267550.2(TTN):c.37239A>G (p.Lys12413=)
|
rs2154257210
|
|
|
NM_001267550.2(TTN):c.37248G>C (p.Ser12416=)
|
rs201654513
|
|
|
NM_001267550.2(TTN):c.37286-9T>C
|
rs1477650067
|
|
|
NM_001267550.2(TTN):c.3729+13G>A
|
|
|
|
NM_001267550.2(TTN):c.3729+15A>C
|
|
|
|
NM_001267550.2(TTN):c.3730-17A>G
|
rs1201217068
|
|
|
NM_001267550.2(TTN):c.3730-19C>A
|
|
|
|
NM_001267550.2(TTN):c.3730-5C>T
|
rs1574709001
|
|
|
NM_001267550.2(TTN):c.3730-6G>A
|
|
|
|
NM_001267550.2(TTN):c.3730-6G>C
|
rs1018613188
|
|
|
NM_001267550.2(TTN):c.37326G>A (p.Val12442=)
|
rs2154255117
|
|
|
NM_001267550.2(TTN):c.37329A>C (p.Pro12443=)
|
rs794727159
|
|
|
NM_001267550.2(TTN):c.37365A>G (p.Thr12455=)
|
rs2154255090
|
|
|
NM_001267550.2(TTN):c.37374A>C (p.Pro12458=)
|
rs1560154460
|
|
|
NM_001267550.2(TTN):c.3738T>C (p.His1246=)
|
|
|
|
NM_001267550.2(TTN):c.37443T>A (p.Pro12481=)
|
rs2064247741
|
|
|
NM_001267550.2(TTN):c.37453+10A>G
|
rs1260753500
|
|
|
NM_001267550.2(TTN):c.37454-4G>A
|
rs2154254746
|
|
|
NM_001267550.2(TTN):c.37458T>C (p.Pro12486=)
|
rs2154254741
|
|
|
NM_001267550.2(TTN):c.37461A>G (p.Glu12487=)
|
rs200021871
|
|
|
NM_001267550.2(TTN):c.37470A>G (p.Pro12490=)
|
rs371171326
|
|
|
NM_001267550.2(TTN):c.37473G>C (p.Pro12491=)
|
rs556414069
|
|
|
NM_001267550.2(TTN):c.37503G>T (p.Pro12501=)
|
rs1199981167
|
|
|
NM_001267550.2(TTN):c.37506G>T (p.Val12502=)
|
rs2154254704
|
|
|
NM_001267550.2(TTN):c.37515C>T (p.Ala12505=)
|
rs1577045070
|
|
|
NM_001267550.2(TTN):c.37543+7A>G
|
rs2154254691
|
|
|
NM_001267550.2(TTN):c.37566T>C (p.Val12522=)
|
rs2154254578
|
|
|
NM_001267550.2(TTN):c.37593T>C (p.Ala12531=)
|
rs1241082931
|
|
|
NM_001267550.2(TTN):c.37628-4C>A
|
rs1408761046
|
|
|
NM_001267550.2(TTN):c.37629G>C (p.Val12543=)
|
rs2154254453
|
|
|
NM_001267550.2(TTN):c.3762T>C (p.Leu1254=)
|
|
|
|
NM_001267550.2(TTN):c.37671C>T (p.Pro12557=)
|
rs2064096973
|
|
|
NM_001267550.2(TTN):c.37683C>A (p.Ile12561=)
|
rs1553780447
|
|
|
NM_001267550.2(TTN):c.37701C>G (p.Pro12567=)
|
rs1577039584
|
|
|
NM_001267550.2(TTN):c.37701C>T (p.Pro12567=)
|
rs1577039584
|
|
|
NM_001267550.2(TTN):c.37707T>A (p.Val12569=)
|
rs2154254397
|
|
|
NM_001267550.2(TTN):c.37716A>G (p.Pro12572=)
|
rs2154254322
|
|
|
NM_001267550.2(TTN):c.37737A>G (p.Ala12579=)
|
rs2064060495
|
|
|
NM_001267550.2(TTN):c.37779T>G (p.Ala12593=)
|
|
|
|
NM_001267550.2(TTN):c.37782G>A (p.Pro12594=)
|
rs58496397
|
|
|
NM_001267550.2(TTN):c.37788C>T (p.Val12596=)
|
rs1060503943
|
|
|
NM_001267550.2(TTN):c.37793-12_37793-10del
|
rs770966939
|
|
|
NM_001267550.2(TTN):c.37797T>C (p.Pro12599=)
|
rs2154254164
|
|
|
NM_001267550.2(TTN):c.3780T>C (p.Tyr1260=)
|
rs956832626
|
|
|
NM_001267550.2(TTN):c.37848A>G (p.Thr12616=)
|
rs1577034894
|
|
|
NM_001267550.2(TTN):c.37884C>T (p.Val12628=)
|
rs2154254036
|
|
|
NM_001267550.2(TTN):c.37920G>A (p.Val12640=)
|
rs2063983841
|
|
|
NM_001267550.2(TTN):c.37980C>A (p.Val12660=)
|
rs1233379856
|
|
|
NM_001267550.2(TTN):c.37989G>A (p.Lys12663=)
|
rs2154253886
|
|
|
NM_001267550.2(TTN):c.37998C>A (p.Pro12666=)
|
rs1351851990
|
|
|
NM_001267550.2(TTN):c.38010T>A (p.Pro12670=)
|
rs753763644
|
|
|
NM_001267550.2(TTN):c.38016G>A (p.Lys12672=)
|
rs764034537
|
|
|
NM_001267550.2(TTN):c.38031T>C (p.Pro12677=)
|
rs1060503972
|
|
|
NM_001267550.2(TTN):c.38085G>A (p.Val12695=)
|
rs1224748066
|
|
|
NM_001267550.2(TTN):c.38088T>G (p.Pro12696=)
|
rs1553777636
|
|
|
NM_001267550.2(TTN):c.38118A>G (p.Thr12706=)
|
rs1253206905
|
|
|
NM_001267550.2(TTN):c.38122+9C>G
|
rs942295759
|
|
|
NM_001267550.2(TTN):c.38122+9C>T
|
rs942295759
|
|
|
NM_001267550.2(TTN):c.38123-4A>C
|
rs2154252983
|
|
|
NM_001267550.2(TTN):c.3813T>G (p.Leu1271=)
|
|
|
|
NM_001267550.2(TTN):c.38226G>A (p.Pro12742=)
|
rs965565085
|
|
|
NM_001267550.2(TTN):c.38226G>T (p.Pro12742=)
|
rs965565085
|
|
|
NM_001267550.2(TTN):c.3822T>C (p.Asp1274=)
|
rs762080939
|
|
|
NM_001267550.2(TTN):c.38364A>G (p.Glu12788=)
|
rs2154252548
|
|
|
NM_001267550.2(TTN):c.38380+10C>A
|
rs200802296
|
|
|
NM_001267550.2(TTN):c.38424C>T (p.Pro12808=)
|
rs1419379943
|
|
|
NM_001267550.2(TTN):c.38445A>G (p.Pro12815=)
|
rs2154252340
|
|
|
NM_001267550.2(TTN):c.38464+8T>C
|
rs2154252302
|
|
|
NM_001267550.2(TTN):c.38475T>C (p.Val12825=)
|
rs1390573790
|
|
|
NM_001267550.2(TTN):c.38478T>C (p.Pro12826=)
|
rs1271252825
|
|
|
NM_001267550.2(TTN):c.38598C>T (p.Pro12866=)
|
rs1553775431
|
|
|
NM_001267550.2(TTN):c.38627-14T>C
|
|
|
|
NM_001267550.2(TTN):c.38627-18del
|
|
|
|
NM_001267550.2(TTN):c.38627-8C>A
|
|
|
|
NM_001267550.2(TTN):c.3864T>C (p.Ala1288=)
|
|
|
|
NM_001267550.2(TTN):c.38697A>C (p.Pro12899=)
|
|
|
|
NM_001267550.2(TTN):c.38703T>G (p.Val12901=)
|
rs1027852214
|
|
|
NM_001267550.2(TTN):c.38707+7G>T
|
rs752801232
|
|
|
NM_001267550.2(TTN):c.38708-10A>G
|
|
|
|
NM_001267550.2(TTN):c.38708-19T>G
|
|
|
|
NM_001267550.2(TTN):c.38712A>G (p.Pro12904=)
|
rs2154251772
|
|
|
NM_001267550.2(TTN):c.38721C>T (p.Pro12907=)
|
|
|
|
NM_001267550.2(TTN):c.3873A>T (p.Ser1291=)
|
rs2154347704
|
|
|
NM_001267550.2(TTN):c.38751C>A (p.Pro12917=)
|
|
|
|
NM_001267550.2(TTN):c.38769G>A (p.Lys12923=)
|
|
|
|
NM_001267550.2(TTN):c.38772T>C (p.Pro12924=)
|
|
|
|
NM_001267550.2(TTN):c.38791+14A>G
|
|
|
|
NM_001267550.2(TTN):c.38791+15C>T
|
|
|
|
NM_001267550.2(TTN):c.38791+16C>T
|
|
|
|
NM_001267550.2(TTN):c.38791+19A>G
|
|
|
|
NM_001267550.2(TTN):c.38792-15C>T
|
|
|
|
NM_001267550.2(TTN):c.38796A>T (p.Pro12932=)
|
rs2154251521
|
|
|
NM_001267550.2(TTN):c.38814T>C (p.Val12938=)
|
rs2063395211
|
|
|
NM_001267550.2(TTN):c.38832G>T (p.Val12944=)
|
|
|
|
NM_001267550.2(TTN):c.38835A>G (p.Pro12945=)
|
|
|
|
NM_001267550.2(TTN):c.38875+14G>C
|
|
|
|
NM_001267550.2(TTN):c.38875+7G>A
|
|
|
|
NM_001267550.2(TTN):c.38876-10A>G
|
|
|
|
NM_001267550.2(TTN):c.38876-12A>T
|
rs770366737
|
|
|
NM_001267550.2(TTN):c.38876-15C>T
|
|
|
|
NM_001267550.2(TTN):c.38876-17C>T
|
|
|
|
NM_001267550.2(TTN):c.38876-18T>G
|
|
|
|
NM_001267550.2(TTN):c.38876-8C>T
|
rs1060503949
|
|
|
NM_001267550.2(TTN):c.38876-9T>C
|
rs2154251321
|
|
|
NM_001267550.2(TTN):c.38880A>C (p.Pro12960=)
|
rs2742354
|
|
|
NM_001267550.2(TTN):c.38883G>A (p.Glu12961=)
|
|
|
|
NM_001267550.2(TTN):c.38895G>A (p.Glu12965=)
|
|
|
|
NM_001267550.2(TTN):c.38901T>C (p.Val12967=)
|
|
|
|
NM_001267550.2(TTN):c.38907A>G (p.Glu12969=)
|
|
|
|
NM_001267550.2(TTN):c.38949T>A (p.Pro12983=)
|
rs979855817
|
|
|
NM_001267550.2(TTN):c.38952T>C (p.Pro12984=)
|
rs2154251202
|
|
|
NM_001267550.2(TTN):c.38959+13G>A
|
|
|
|
NM_001267550.2(TTN):c.38959+14G>A
|
|
|
|
NM_001267550.2(TTN):c.38959+7G>A
|
rs1343265015
|
|
|
NM_001267550.2(TTN):c.38959+9C>T
|
|
|
|
NM_001267550.2(TTN):c.38960-10A>C
|
|
|
|
NM_001267550.2(TTN):c.38960-16A>C
|
|
|
|
NM_001267550.2(TTN):c.38960-16A>T
|
|
|
|
NM_001267550.2(TTN):c.38960-17C>A
|
|
|
|
NM_001267550.2(TTN):c.38960-17C>T
|
|
|
|
NM_001267550.2(TTN):c.38960-20T>C
|
|
|
|
NM_001267550.2(TTN):c.38964A>T (p.Pro12988=)
|
rs776672344
|
|
|
NM_001267550.2(TTN):c.38997A>G (p.Lys12999=)
|
|
|
|
NM_001267550.2(TTN):c.39003C>T (p.Pro13001=)
|
rs756578823
|
|
|
NM_001267550.2(TTN):c.39015T>C (p.Pro13005=)
|
|
|
|
NM_001267550.2(TTN):c.39020A>C (p.Lys13007Thr)
|
rs532069408
|
|
|
NM_001267550.2(TTN):c.39043+10A>G
|
|
|
|
NM_001267550.2(TTN):c.39043+11T>C
|
|
|
|
NM_001267550.2(TTN):c.39043+9C>T
|
|
|
|
NM_001267550.2(TTN):c.39044-16A>C
|
|
|
|
NM_001267550.2(TTN):c.39048A>T (p.Pro13016=)
|
rs747591613
|
|
|
NM_001267550.2(TTN):c.39063A>G (p.Glu13021=)
|
|
|
|
NM_001267550.2(TTN):c.39066T>G (p.Val13022=)
|
rs759383677
|
|
|
NM_001267550.2(TTN):c.39093T>C (p.Ala13031=)
|
|
|
|
NM_001267550.2(TTN):c.39096T>C (p.Pro13032=)
|
|
|
|
NM_001267550.2(TTN):c.39127+11C>T
|
|
|
|
NM_001267550.2(TTN):c.39128-10A>C
|
|
|
|
NM_001267550.2(TTN):c.39128-17C>T
|
rs2154250612
|
|
|
NM_001267550.2(TTN):c.39128-4C>T
|
|
|
|
NM_001267550.2(TTN):c.39128-7T>C
|
|
|
|
NM_001267550.2(TTN):c.39128-7T>G
|
|
|
|
NM_001267550.2(TTN):c.39132T>A (p.Pro13044=)
|
|
|
|
NM_001267550.2(TTN):c.39141C>G (p.Pro13047=)
|
|
|
|
NM_001267550.2(TTN):c.39144A>G (p.Lys13048=)
|
rs1576971041
|
|
|
NM_001267550.2(TTN):c.39147A>G (p.Glu13049=)
|
|
|
|
NM_001267550.2(TTN):c.39153T>C (p.Val13051=)
|
rs2154250557
|
|
|
NM_001267550.2(TTN):c.39211+10C>T
|
rs1264648666
|
|
|
NM_001267550.2(TTN):c.39211+12C>G
|
|
|
|
NM_001267550.2(TTN):c.39211+15G>A
|
rs2154250485
|
|
|
NM_001267550.2(TTN):c.39211+18G>A
|
rs1312765979
|
|
|
NM_001267550.2(TTN):c.39211+8C>G
|
rs778828307
|
|
|
NM_001267550.2(TTN):c.39211+9C>T
|
rs2154250496
|
|
|
NM_001267550.2(TTN):c.39212-15T>C
|
|
|
|
NM_001267550.2(TTN):c.39212-16A>C
|
|
|
|
NM_001267550.2(TTN):c.39212-19ATA[2]
|
rs747377960
|
|
|
NM_001267550.2(TTN):c.39212-8T>C
|
|
|
|
NM_001267550.2(TTN):c.39212-9C>A
|
rs373056460
|
|
|
NM_001267550.2(TTN):c.39212-9C>T
|
|
|
|
NM_001267550.2(TTN):c.39213C>T (p.Val13071=)
|
rs2063116864
|
|
|
NM_001267550.2(TTN):c.39237C>A (p.Val13079=)
|
rs1044693629
|
|
|
NM_001267550.2(TTN):c.39240A>G (p.Pro13080=)
|
|
|
|
NM_001267550.2(TTN):c.39240A>T (p.Pro13080=)
|
|
|
|
NM_001267550.2(TTN):c.39255T>C (p.Pro13085=)
|
rs573657954
|
|
|
NM_001267550.2(TTN):c.39258A>G (p.Glu13086=)
|
|
|
|
NM_001267550.2(TTN):c.3927T>G (p.Thr1309=)
|
|
|
|
NM_001267550.2(TTN):c.39295+13C>G
|
|
|
|
NM_001267550.2(TTN):c.39295+13C>T
|
|
|
|
NM_001267550.2(TTN):c.39295+19A>G
|
|
|
|
NM_001267550.2(TTN):c.39295+8T>A
|
|
|
|
NM_001267550.2(TTN):c.39295+9_39295+14del
|
|
|
|
NM_001267550.2(TTN):c.39296-15C>G
|
|
|
|
NM_001267550.2(TTN):c.39296-15C>T
|
|
|
|
NM_001267550.2(TTN):c.39296-19T>A
|
rs1472270809
|
|
|
NM_001267550.2(TTN):c.39296-5T>C
|
rs2154250231
|
|
|
NM_001267550.2(TTN):c.39330G>A (p.Glu13110=)
|
rs2063060667
|
|
|
NM_001267550.2(TTN):c.39333T>C (p.Pro13111=)
|
rs1013606405
|
|
|
NM_001267550.2(TTN):c.39366G>A (p.Ala13122=)
|
rs769494020
|
|
|
NM_001267550.2(TTN):c.39369G>A (p.Ala13123=)
|
rs768499213
|
|
|
NM_001267550.2(TTN):c.39375A>C (p.Pro13125=)
|
rs566794300
|
|
|
NM_001267550.2(TTN):c.39379+11A>G
|
|
|
|
NM_001267550.2(TTN):c.39379+19G>A
|
|
|
|
NM_001267550.2(TTN):c.39379+19G>C
|
|
|
|
NM_001267550.2(TTN):c.39379+19G>T
|
|
|
|
NM_001267550.2(TTN):c.39379+20C>T
|
|
|
|
NM_001267550.2(TTN):c.39379+8G>A
|
rs1272590741
|
|
|
NM_001267550.2(TTN):c.39380-19A>G
|
|
|
|
NM_001267550.2(TTN):c.39380-20C>T
|
|
|
|
NM_001267550.2(TTN):c.39380-7T>A
|
|
|
|
NM_001267550.2(TTN):c.39381G>A (p.Val13127=)
|
rs2154250034
|
|
|
NM_001267550.2(TTN):c.39396G>A (p.Lys13132=)
|
rs1553770142
|
|
|
NM_001267550.2(TTN):c.39399A>G (p.Lys13133=)
|
|
|
|
NM_001267550.2(TTN):c.3939G>A (p.Lys1313=)
|
rs2154347674
|
|
|
NM_001267550.2(TTN):c.39408A>G (p.Pro13136=)
|
|
|
|
NM_001267550.2(TTN):c.39429C>T (p.Val13143=)
|
rs2154249992
|
|
|
NM_001267550.2(TTN):c.39456A>G (p.Pro13152=)
|
|
|
|
NM_001267550.2(TTN):c.3945T>A (p.Ser1315=)
|
|
|
|
NM_001267550.2(TTN):c.39463+11C>T
|
rs767146567
|
|
|
NM_001267550.2(TTN):c.39463+12T>C
|
|
|
|
NM_001267550.2(TTN):c.39463+14C>T
|
|
|
|
NM_001267550.2(TTN):c.39463+16A>G
|
rs1553769902
|
|
|
NM_001267550.2(TTN):c.39463+19_39463+22del
|
rs1244841627
|
|
|
NM_001267550.2(TTN):c.39464-10T>A
|
|
|
|
NM_001267550.2(TTN):c.39464-12T>C
|
|
|
|
NM_001267550.2(TTN):c.39464-13A>C
|
|
|
|
NM_001267550.2(TTN):c.39464-13_39464-11del
|
|
|
|
NM_001267550.2(TTN):c.39464-17A>G
|
rs1259394761
|
|
|
NM_001267550.2(TTN):c.39464-4A>C
|
|
|
|
NM_001267550.2(TTN):c.39464-5T>A
|
|
|
|
NM_001267550.2(TTN):c.39464-5T>C
|
|
|
|
NM_001267550.2(TTN):c.39464-7T>C
|
rs1218973879
|
|
|
NM_001267550.2(TTN):c.39465G>T (p.Val13155=)
|
|
|
|
NM_001267550.2(TTN):c.3948A>C (p.Gly1316=)
|
rs2154347668
|
|
|
NM_001267550.2(TTN):c.39531A>G (p.Glu13177=)
|
|
|
|
NM_001267550.2(TTN):c.39547+11C>T
|
|
|
|
NM_001267550.2(TTN):c.39547+15C>T
|
|
|
|
NM_001267550.2(TTN):c.39548-11T>C
|
|
|
|
NM_001267550.2(TTN):c.39591T>C (p.Ala13197=)
|
rs2154249622
|
|
|
NM_001267550.2(TTN):c.39618A>C (p.Pro13206=)
|
rs2154249604
|
|
|
NM_001267550.2(TTN):c.39625+11C>T
|
|
|
|
NM_001267550.2(TTN):c.39626-13A>T
|
|
|
|
NM_001267550.2(TTN):c.39626-15T>C
|
|
|
|
NM_001267550.2(TTN):c.3963+10A>G
|
|
|
|
NM_001267550.2(TTN):c.3963+9T>C
|
rs1554012412
|
|
|
NM_001267550.2(TTN):c.39630A>G (p.Pro13210=)
|
|
|
|
NM_001267550.2(TTN):c.3964-4G>T
|
|
|
|
NM_001267550.2(TTN):c.3964-6T>C
|
|
|
|
NM_001267550.2(TTN):c.3964-9T>C
|
|
|
|
NM_001267550.2(TTN):c.39652T>C (p.Leu13218=)
|
rs727505145
|
|
|
NM_001267550.2(TTN):c.39654G>A (p.Leu13218=)
|
|
|
|
NM_001267550.2(TTN):c.39663A>G (p.Lys13221=)
|
rs1576940974
|
|
|
NM_001267550.2(TTN):c.39669T>C (p.Ala13223=)
|
rs2154249242
|
|
|
NM_001267550.2(TTN):c.396A>T (p.Thr132=)
|
rs1574991773
|
|
|
NM_001267550.2(TTN):c.39711A>G (p.Val13237=)
|
|
|
|
NM_001267550.2(TTN):c.3975C>T (p.Tyr1325=)
|
rs775341456
|
|
|
NM_001267550.2(TTN):c.39771A>G (p.Pro13257=)
|
|
|
|
NM_001267550.2(TTN):c.39774T>C (p.Val13258=)
|
rs2154248597
|
|
|
NM_001267550.2(TTN):c.39789G>A (p.Glu13263=)
|
|
|
|
NM_001267550.2(TTN):c.39817+16del
|
rs902259785
|
|
|
NM_001267550.2(TTN):c.39817+20G>C
|
|
|
|
NM_001267550.2(TTN):c.39817+6_39817+7dup
|
|
|
|
NM_001267550.2(TTN):c.39817+9C>T
|
|
|
|
NM_001267550.2(TTN):c.39818-13C>A
|
rs1455452769
|
|
|
NM_001267550.2(TTN):c.39819G>A (p.Val13273=)
|
|
|
|
NM_001267550.2(TTN):c.39849G>A (p.Glu13283=)
|
|
|
|
NM_001267550.2(TTN):c.3984C>A (p.Gly1328=)
|
rs72647872
|
|
|
NM_001267550.2(TTN):c.39873A>G (p.Lys13291=)
|
|
|
|
NM_001267550.2(TTN):c.39895+17G>T
|
|
|
|
NM_001267550.2(TTN):c.39895+7A>G
|
rs1299824475
|
|
|
NM_001267550.2(TTN):c.39896-18C>A
|
|
|
|
NM_001267550.2(TTN):c.39896-4A>C
|
|
|
|
NM_001267550.2(TTN):c.39936C>A (p.Val13312=)
|
rs1259485774
|
|
|
NM_001267550.2(TTN):c.39973+12A>T
|
rs2154247958
|
|
|
NM_001267550.2(TTN):c.39973+15G>A
|
|
|
|
NM_001267550.2(TTN):c.39973+15G>C
|
|
|
|
NM_001267550.2(TTN):c.39973+15G>T
|
rs556956013
|
|
|
NM_001267550.2(TTN):c.39973+19G>A
|
|
|
|
NM_001267550.2(TTN):c.39974-11T>C
|
rs758597536
|
|
|
NM_001267550.2(TTN):c.39974-15C>T
|
rs2154247753
|
|
|
NM_001267550.2(TTN):c.39974-19A>G
|
|
|
|
NM_001267550.2(TTN):c.39984G>A (p.Val13328=)
|
rs1386451171
|
|
|
NM_001267550.2(TTN):c.39993A>G (p.Lys13331=)
|
rs2062538175
|
|
|
NM_001267550.2(TTN):c.3999T>C (p.His1333=)
|
|
|
|
NM_001267550.2(TTN):c.399T>C (p.Pro133=)
|
rs2094007472
|
|
|
NM_001267550.2(TTN):c.40017T>C (p.Pro13339=)
|
rs1553766018
|
|
|
NM_001267550.2(TTN):c.40047T>G (p.Leu13349=)
|
|
|
|
NM_001267550.2(TTN):c.40057+10A>G
|
rs1576917346
|
|
|
NM_001267550.2(TTN):c.40057+12G>A
|
|
|
|
NM_001267550.2(TTN):c.40057+20A>G
|
rs2062517730
|
|
|
NM_001267550.2(TTN):c.40057+8C>A
|
|
|
|
NM_001267550.2(TTN):c.40058-12A>C
|
|
|
|
NM_001267550.2(TTN):c.40058-18A>G
|
|
|
|
NM_001267550.2(TTN):c.40058-19C>A
|
|
|
|
NM_001267550.2(TTN):c.40095A>G (p.Glu13365=)
|
|
|
|
NM_001267550.2(TTN):c.40104G>T (p.Val13368=)
|
|
|
|
NM_001267550.2(TTN):c.40107T>C (p.Pro13369=)
|
rs2154246091
|
|
|
NM_001267550.2(TTN):c.40110C>A (p.Ile13370=)
|
|
|
|
NM_001267550.2(TTN):c.4011C>T (p.Tyr1337=)
|
rs1246677370
|
|
|
NM_001267550.2(TTN):c.40141+17T>C
|
rs1028688301
|
|
|
NM_001267550.2(TTN):c.40142-13A>G
|
|
|
|
NM_001267550.2(TTN):c.40142-14T>C
|
|
|
|
NM_001267550.2(TTN):c.40142-23_40142-15dup
|
|
|
|
NM_001267550.2(TTN):c.40179A>G (p.Lys13393=)
|
rs2154245586
|
|
|
NM_001267550.2(TTN):c.40191C>A (p.Thr13397=)
|
|
|
|
NM_001267550.2(TTN):c.40209T>A (p.Thr13403=)
|
rs1400146703
|
|
|
NM_001267550.2(TTN):c.40212C>G (p.Pro13404=)
|
rs904268240
|
|
|
NM_001267550.2(TTN):c.40222+13A>G
|
|
|
|
NM_001267550.2(TTN):c.40222+14T>C
|
|
|
|
NM_001267550.2(TTN):c.40222+16T>C
|
|
|
|
NM_001267550.2(TTN):c.40222+18T>C
|
|
|
|
NM_001267550.2(TTN):c.40222+19A>G
|
|
|
|
NM_001267550.2(TTN):c.40222+2TA[10]
|
rs10580462
|
|
|
NM_001267550.2(TTN):c.40222+2TA[12]
|
rs10580462
|
|
|
NM_001267550.2(TTN):c.40222+2TA[6]
|
|
|
|
NM_001267550.2(TTN):c.40222+2TA[8]
|
rs10580462
|
|
|
NM_001267550.2(TTN):c.40222+2TA[9]
|
rs10580462
|
|
|
NM_001267550.2(TTN):c.40223-10T>C
|
rs2154244790
|
|
|
NM_001267550.2(TTN):c.40223-4A>T
|
|
|
|
NM_001267550.2(TTN):c.40227T>G (p.Arg13409=)
|
rs3754951
|
|
|
NM_001267550.2(TTN):c.40251T>G (p.Pro13417=)
|
rs2062029191
|
|
|
NM_001267550.2(TTN):c.40254A>G (p.Glu13418=)
|
|
|
|
NM_001267550.2(TTN):c.40281A>G (p.Glu13427=)
|
rs2154244709
|
|
|
NM_001267550.2(TTN):c.40297+13G>C
|
|
|
|
NM_001267550.2(TTN):c.40297+14T>C
|
|
|
|
NM_001267550.2(TTN):c.40298-11A>G
|
|
|
|
NM_001267550.2(TTN):c.40323G>A (p.Glu13441=)
|
rs748947621
|
|
|
NM_001267550.2(TTN):c.40359A>C (p.Pro13453=)
|
rs751336775
|
|
|
NM_001267550.2(TTN):c.40383G>A (p.Val13461=)
|
|
|
|
NM_001267550.2(TTN):c.40395A>C (p.Ile13465=)
|
rs766145596
|
|
|
NM_001267550.2(TTN):c.40408+10G>A
|
rs758643564
|
|
|
NM_001267550.2(TTN):c.40408+11C>A
|
|
|
|
NM_001267550.2(TTN):c.40408+11C>T
|
|
|
|
NM_001267550.2(TTN):c.40408+14C>T
|
|
|
|
NM_001267550.2(TTN):c.40408+15T>C
|
rs2061855297
|
|
|
NM_001267550.2(TTN):c.40408+17C>T
|
|
|
|
NM_001267550.2(TTN):c.40408+3dup
|
rs727504922
|
|
|
NM_001267550.2(TTN):c.40408+8del
|
rs727504922
|
|
|
NM_001267550.2(TTN):c.40409-9T>C
|
|
|
|
NM_001267550.2(TTN):c.4041T>C (p.Ala1347=)
|
rs2154347569
|
|
|
NM_001267550.2(TTN):c.40431T>G (p.Pro13477=)
|
|
|
|
NM_001267550.2(TTN):c.40443G>A (p.Gln13481=)
|
|
|
|
NM_001267550.2(TTN):c.40458G>A (p.Val13486=)
|
rs769309224
|
|
|
NM_001267550.2(TTN):c.4045C>T (p.Leu1349=)
|
rs2154347567
|
|
|
NM_001267550.2(TTN):c.40464T>C (p.Leu13488=)
|
|
|
|
NM_001267550.2(TTN):c.40477+10A>G
|
|
|
|
NM_001267550.2(TTN):c.40477+7C>G
|
rs1553759307
|
|
|
NM_001267550.2(TTN):c.40478-12T>C
|
|
|
|
NM_001267550.2(TTN):c.40478-14C>A
|
|
|
|
NM_001267550.2(TTN):c.40478-18A>C
|
|
|
|
NM_001267550.2(TTN):c.40478-18A>G
|
|
|
|
NM_001267550.2(TTN):c.4047G>A (p.Leu1349=)
|
|
|
|
NM_001267550.2(TTN):c.40530A>G (p.Glu13510=)
|
|
|
|
NM_001267550.2(TTN):c.40545T>C (p.Val13515=)
|
|
|
|
NM_001267550.2(TTN):c.40548T>C (p.Val13516=)
|
|
|
|
NM_001267550.2(TTN):c.40559-14T>G
|
rs2154238679
|
|
|
NM_001267550.2(TTN):c.40559-17C>T
|
|
|
|
NM_001267550.2(TTN):c.40559-8C>G
|
rs2061204822
|
|
|
NM_001267550.2(TTN):c.40575T>G (p.Pro13525=)
|
rs2154238652
|
|
|
NM_001267550.2(TTN):c.40590T>G (p.Pro13530=)
|
rs2154238641
|
|
|
NM_001267550.2(TTN):c.4059T>G (p.Val1353=)
|
|
|
|
NM_001267550.2(TTN):c.40634-13T>A
|
|
|
|
NM_001267550.2(TTN):c.40634-15_40634-11del
|
rs375561641
|
|
|
NM_001267550.2(TTN):c.40634-16T>C
|
|
|
|
NM_001267550.2(TTN):c.40634-5T>C
|
rs904821775
|
|
|
NM_001267550.2(TTN):c.40634-7C>T
|
|
|
|
NM_001267550.2(TTN):c.40634-9A>C
|
rs373511249
|
|
|
NM_001267550.2(TTN):c.40650T>C (p.Pro13550=)
|
rs1553754047
|
|
|
NM_001267550.2(TTN):c.40653A>C (p.Pro13551=)
|
|
|
|
NM_001267550.2(TTN):c.4068A>G (p.Pro1356=)
|
|
|
|
NM_001267550.2(TTN):c.40723+11A>C
|
|
|
|
NM_001267550.2(TTN):c.40723+12C>T
|
|
|
|
NM_001267550.2(TTN):c.40723+19T>G
|
|
|
|
NM_001267550.2(TTN):c.40723+20C>G
|
rs1300479369
|
|
|
NM_001267550.2(TTN):c.40723+8T>G
|
rs1219288687
|
|
|
NM_001267550.2(TTN):c.40725G>T (p.Val13575=)
|
rs1349888277
|
|
|
NM_001267550.2(TTN):c.40776G>A (p.Lys13592=)
|
rs1182797999
|
|
|
NM_001267550.2(TTN):c.40779C>G (p.Pro13593=)
|
|
|
|
NM_001267550.2(TTN):c.40786+10C>T
|
|
|
|
NM_001267550.2(TTN):c.40786+18C>T
|
rs1262339735
|
|
|
NM_001267550.2(TTN):c.40787-4A>C
|
rs1205464474
|
|
|
NM_001267550.2(TTN):c.40812T>C (p.Pro13604=)
|
rs879235662
|
|
|
NM_001267550.2(TTN):c.40818A>G (p.Glu13606=)
|
|
|
|
NM_001267550.2(TTN):c.40857A>G (p.Pro13619=)
|
|
|
|
NM_001267550.2(TTN):c.40869G>A (p.Lys13623=)
|
rs1553752615
|
|
|
NM_001267550.2(TTN):c.40876+12G>T
|
|
|
|
NM_001267550.2(TTN):c.40876+16C>G
|
|
|
|
NM_001267550.2(TTN):c.40876+19T>C
|
|
|
|
NM_001267550.2(TTN):c.40877-14T>C
|
rs397517561
|
|
|
NM_001267550.2(TTN):c.40877-4_40877-3insTTTTATTTTTA
|
|
|
|
NM_001267550.2(TTN):c.40877-7A>C
|
rs727505201
|
|
|
NM_001267550.2(TTN):c.4089T>A (p.Thr1363=)
|
|
|
|
NM_001267550.2(TTN):c.40917T>C (p.Gly13639=)
|
|
|
|
NM_001267550.2(TTN):c.40927+19G>A
|
|
|
|
NM_001267550.2(TTN):c.40927+19G>T
|
|
|
|
NM_001267550.2(TTN):c.40927+7T>C
|
rs2060631229
|
|
|
NM_001267550.2(TTN):c.40927+8T>C
|
rs1307311967
|
|
|
NM_001267550.2(TTN):c.40928-17A>G
|
|
|
|
NM_001267550.2(TTN):c.40928-18T>C
|
|
|
|
NM_001267550.2(TTN):c.40928-8T>C
|
rs2154231718
|
|
|
NM_001267550.2(TTN):c.40929T>C (p.Gly13643=)
|
rs773615100
|
|
|
NM_001267550.2(TTN):c.40944T>G (p.Thr13648=)
|
rs2154231659
|
|
|
NM_001267550.2(TTN):c.40950A>G (p.Ser13650=)
|
rs778416722
|
|
|
NM_001267550.2(TTN):c.40962C>A (p.Ala13654=)
|
rs917199946
|
|
|
NM_001267550.2(TTN):c.40966A>C (p.Arg13656=)
|
|
|
|
NM_001267550.2(TTN):c.40968G>A (p.Arg13656=)
|
rs991125044
|
|
|
NM_001267550.2(TTN):c.40974G>A (p.Lys13658=)
|
rs752465783
|
|
|
NM_001267550.2(TTN):c.40975T>C (p.Leu13659=)
|
rs1294042752
|
|
|
NM_001267550.2(TTN):c.40992T>C (p.Gly13664=)
|
|
|
|
NM_001267550.2(TTN):c.41016C>A (p.Ala13672=)
|
rs1396927073
|
|
|
NM_001267550.2(TTN):c.4101C>T (p.Ser1367=)
|
rs1307238681
|
|
|
NM_001267550.2(TTN):c.41091A>C (p.Ser13697=)
|
|
|
|
NM_001267550.2(TTN):c.41124T>C (p.Cys13708=)
|
rs794729424
|
|
|
NM_001267550.2(TTN):c.41151A>C (p.Thr13717=)
|
|
|
|
NM_001267550.2(TTN):c.41175T>C (p.Asn13725=)
|
rs2154231331
|
|
|
NM_001267550.2(TTN):c.41193G>A (p.Lys13731=)
|
rs559968058
|
|
|
NM_001267550.2(TTN):c.41232C>T (p.His13744=)
|
rs2060459708
|
|
|
NM_001267550.2(TTN):c.41253C>A (p.Ser13751=)
|
|
|
|
NM_001267550.2(TTN):c.41253C>T (p.Ser13751=)
|
rs772643931
|
|
|
NM_001267550.2(TTN):c.41256T>C (p.Asp13752=)
|
rs1280849710
|
|
|
NM_001267550.2(TTN):c.41304C>G (p.Thr13768=)
|
|
|
|
NM_001267550.2(TTN):c.41329+12T>A
|
|
|
|
NM_001267550.2(TTN):c.41329+12T>C
|
|
|
|
NM_001267550.2(TTN):c.41329+13C>T
|
|
|
|
NM_001267550.2(TTN):c.41329+16C>T
|
|
|
|
NM_001267550.2(TTN):c.41330-19A>G
|
|
|
|
NM_001267550.2(TTN):c.41330-8C>T
|
|
|
|
NM_001267550.2(TTN):c.41337T>A (p.Pro13779=)
|
|
|
|
NM_001267550.2(TTN):c.41340G>A (p.Val13780=)
|
|
|
|
NM_001267550.2(TTN):c.41346T>C (p.Phe13782=)
|
rs775083810
|
|
|
NM_001267550.2(TTN):c.4134A>G (p.Lys1378=)
|
rs1230375831
|
|
|
NM_001267550.2(TTN):c.41364G>A (p.Glu13788=)
|
rs2154230636
|
|
|
NM_001267550.2(TTN):c.41392T>C (p.Leu13798=)
|
|
|
|
NM_001267550.2(TTN):c.41421G>A (p.Glu13807=)
|
rs2154230495
|
|
|
NM_001267550.2(TTN):c.41442G>A (p.Lys13814=)
|
|
|
|
NM_001267550.2(TTN):c.41445T>C (p.Asp13815=)
|
rs745623759
|
|
|
NM_001267550.2(TTN):c.41451G>A (p.Lys13817=)
|
rs2154230414
|
|
|
NM_001267550.2(TTN):c.41460G>A (p.Val13820=)
|
|
|
|
NM_001267550.2(TTN):c.41503C>A (p.Arg13835=)
|
rs886055278
|
|
|
NM_001267550.2(TTN):c.41520C>T (p.Asn13840=)
|
rs2154230235
|
|
|
NM_001267550.2(TTN):c.41526A>G (p.Ala13842=)
|
rs2154230220
|
|
|
NM_001267550.2(TTN):c.41544A>C (p.Gly13848=)
|
rs2060392791
|
|
|
NM_001267550.2(TTN):c.41544A>T (p.Gly13848=)
|
|
|
|
NM_001267550.2(TTN):c.41556T>C (p.Val13852=)
|
rs371910445
|
|
|
NM_001267550.2(TTN):c.41562G>C (p.Val13854=)
|
rs1553746360
|
|
|
NM_001267550.2(TTN):c.41589A>G (p.Ser13863=)
|
|
|
|
NM_001267550.2(TTN):c.41595C>T (p.Cys13865=)
|
rs1336274191
|
|
|
NM_001267550.2(TTN):c.415C>A (p.Arg139=)
|
rs752970602
|
|
|
NM_001267550.2(TTN):c.41608+19G>A
|
|
|
|
NM_001267550.2(TTN):c.41608+8C>T
|
rs2060384548
|
|
|
NM_001267550.2(TTN):c.41613C>A (p.Val13871=)
|
|
|
|
NM_001267550.2(TTN):c.41631G>A (p.Val13877=)
|
rs2154229572
|
|
|
NM_001267550.2(TTN):c.41673T>C (p.Ala13891=)
|
rs2154229543
|
|
|
NM_001267550.2(TTN):c.41682C>T (p.Ala13894=)
|
|
|
|
NM_001267550.2(TTN):c.41706A>G (p.Pro13902=)
|
|
|
|
NM_001267550.2(TTN):c.41709C>T (p.Asn13903=)
|
|
|
|
NM_001267550.2(TTN):c.41770C>T (p.Leu13924=)
|
|
|
|
NM_001267550.2(TTN):c.41772G>A (p.Leu13924=)
|
|
|
|
NM_001267550.2(TTN):c.41781A>C (p.Gly13927=)
|
|
|
|
NM_001267550.2(TTN):c.41788C>T (p.Leu13930=)
|
|
|
|
NM_001267550.2(TTN):c.41790G>A (p.Leu13930=)
|
rs767644971
|
|
|
NM_001267550.2(TTN):c.41808T>C (p.Asn13936=)
|
|
|
|
NM_001267550.2(TTN):c.4182C>G (p.Pro1394=)
|
rs775070186
|
|
|
NM_001267550.2(TTN):c.41832G>A (p.Glu13944=)
|
|
|
|
NM_001267550.2(TTN):c.41856A>G (p.Lys13952=)
|
|
|
|
NM_001267550.2(TTN):c.4185A>G (p.Thr1395=)
|
rs905104077
|
|
|
NM_001267550.2(TTN):c.41862C>T (p.Tyr13954=)
|
rs1553745330
|
|
|
NM_001267550.2(TTN):c.41877A>C (p.Thr13959=)
|
|
|
|
NM_001267550.2(TTN):c.41884+13_41884+34del
|
|
|
|
NM_001267550.2(TTN):c.41884+14C>G
|
|
|
|
NM_001267550.2(TTN):c.41884+15C>T
|
rs2060320323
|
|
|
NM_001267550.2(TTN):c.41885-17A>T
|
|
|
|
NM_001267550.2(TTN):c.41885-7A>G
|
rs2154229204
|
|
|
NM_001267550.2(TTN):c.41892A>G (p.Glu13964=)
|
|
|
|
NM_001267550.2(TTN):c.41919C>T (p.Asp13973=)
|
|
|
|
NM_001267550.2(TTN):c.41922T>C (p.Val13974=)
|
|
|
|
NM_001267550.2(TTN):c.41946A>G (p.Ala13982=)
|
rs1553744923
|
|
|
NM_001267550.2(TTN):c.41949C>T (p.Ser13983=)
|
rs2154229075
|
|
|
NM_001267550.2(TTN):c.4197G>A (p.Val1399=)
|
|
|
|
NM_001267550.2(TTN):c.41985A>G (p.Gly13995=)
|
rs2154229021
|
|
|
NM_001267550.2(TTN):c.42021A>C (p.Ser14007=)
|
|
|
|
NM_001267550.2(TTN):c.42024+17T>A
|
|
|
|
NM_001267550.2(TTN):c.42024+9T>C
|
rs1392186128
|
|
|
NM_001267550.2(TTN):c.42025-11T>C
|
|
|
|
NM_001267550.2(TTN):c.42025-14C>T
|
|
|
|
NM_001267550.2(TTN):c.42025-18A>G
|
|
|
|
NM_001267550.2(TTN):c.42030T>C (p.Cys14010=)
|
|
|
|
NM_001267550.2(TTN):c.42057C>T (p.Arg14019=)
|
|
|
|
NM_001267550.2(TTN):c.4206C>T (p.Ile1402=)
|
rs1554011604
|
|
|
NM_001267550.2(TTN):c.4208+15A>C
|
|
|
|
NM_001267550.2(TTN):c.4209-18T>C
|
|
|
|
NM_001267550.2(TTN):c.4209-19G>A
|
|
|
|
NM_001267550.2(TTN):c.4209-19G>T
|
|
|
|
NM_001267550.2(TTN):c.4209-8T>C
|
rs2154346907
|
|
|
NM_001267550.2(TTN):c.42096T>A (p.Gly14032=)
|
|
|
|
NM_001267550.2(TTN):c.42111G>A (p.Gln14037=)
|
|
|
|
NM_001267550.2(TTN):c.42114C>T (p.Ala14038=)
|
rs1392851149
|
|
|
NM_001267550.2(TTN):c.42135C>T (p.Ala14045=)
|
|
|
|
NM_001267550.2(TTN):c.42151+14A>C
|
|
|
|
NM_001267550.2(TTN):c.42151+17A>C
|
rs546392087
|
|
|
NM_001267550.2(TTN):c.42151+18T>C
|
|
|
|
NM_001267550.2(TTN):c.42151+19T>C
|
|
|
|
NM_001267550.2(TTN):c.42151+8G>A
|
|
|
|
NM_001267550.2(TTN):c.42152-13G>A
|
|
|
|
NM_001267550.2(TTN):c.42152-16A>T
|
|
|
|
NM_001267550.2(TTN):c.42189C>T (p.Val14063=)
|
|
|
|
NM_001267550.2(TTN):c.4218T>A (p.Ser1406=)
|
|
|
|
NM_001267550.2(TTN):c.42204G>A (p.Arg14068=)
|
|
|
|
NM_001267550.2(TTN):c.42207A>T (p.Arg14069=)
|
|
|
|
NM_001267550.2(TTN):c.42267T>G (p.Pro14089=)
|
|
|
|
NM_001267550.2(TTN):c.42273A>C (p.Ile14091=)
|
|
|
|
NM_001267550.2(TTN):c.42300C>T (p.Ile14100=)
|
|
|
|
NM_001267550.2(TTN):c.42303C>T (p.Ile14101=)
|
|
|
|
NM_001267550.2(TTN):c.42312A>G (p.Gly14104=)
|
rs892874364
|
|
|
NM_001267550.2(TTN):c.42354T>C (p.Asp14118=)
|
|
|
|
NM_001267550.2(TTN):c.42375G>A (p.Glu14125=)
|
rs781541454
|
|
|
NM_001267550.2(TTN):c.42378G>A (p.Val14126=)
|
|
|
|
NM_001267550.2(TTN):c.42384C>T (p.Gly14128=)
|
|
|
|
NM_001267550.2(TTN):c.42405G>A (p.Leu14135=)
|
|
|
|
NM_001267550.2(TTN):c.42415+13A>C
|
|
|
|
NM_001267550.2(TTN):c.42415+14T>A
|
|
|
|
NM_001267550.2(TTN):c.42415+17G>A
|
|
|
|
NM_001267550.2(TTN):c.42415+17G>C
|
|
|
|
NM_001267550.2(TTN):c.42415+9G>C
|
|
|
|
NM_001267550.2(TTN):c.42416-18T>C
|
|
|
|
NM_001267550.2(TTN):c.42416-20T>C
|
rs2154226352
|
|
|
NM_001267550.2(TTN):c.42462A>G (p.Lys14154=)
|
|
|
|
NM_001267550.2(TTN):c.42465A>G (p.Glu14155=)
|
|
|
|
NM_001267550.2(TTN):c.42468T>C (p.Gly14156=)
|
rs774061049
|
|
|
NM_001267550.2(TTN):c.42483T>C (p.Phe14161=)
|
rs1229612568
|
|
|
NM_001267550.2(TTN):c.42513T>C (p.His14171=)
|
|
|
|
NM_001267550.2(TTN):c.42531T>C (p.Asn14177=)
|
|
|
|
NM_001267550.2(TTN):c.42549A>C (p.Thr14183=)
|
rs756863078
|
|
|
NM_001267550.2(TTN):c.42591A>G (p.Lys14197=)
|
rs1433094325
|
|
|
NM_001267550.2(TTN):c.42592T>C (p.Leu14198=)
|
rs763186372
|
|
|
NM_001267550.2(TTN):c.42615G>A (p.Leu14205=)
|
|
|
|
NM_001267550.2(TTN):c.4261C>A (p.Arg1421=)
|
|
|
|
NM_001267550.2(TTN):c.42621T>C (p.Asp14207=)
|
|
|
|
NM_001267550.2(TTN):c.42645C>G (p.Val14215=)
|
|
|
|
NM_001267550.2(TTN):c.42648G>A (p.Lys14216=)
|
|
|
|
NM_001267550.2(TTN):c.42651G>A (p.Glu14217=)
|
|
|
|
NM_001267550.2(TTN):c.42654G>A (p.Leu14218=)
|
|
|
|
NM_001267550.2(TTN):c.42654G>T (p.Leu14218=)
|
rs1212212394
|
|
|
NM_001267550.2(TTN):c.42663A>G (p.Thr14221=)
|
|
|
|
NM_001267550.2(TTN):c.42682+12C>G
|
|
|
|
NM_001267550.2(TTN):c.42682+14A>C
|
rs2154225957
|
|
|
NM_001267550.2(TTN):c.42682+16T>C
|
|
|
|
NM_001267550.2(TTN):c.42683-11G>A
|
|
|
|
NM_001267550.2(TTN):c.42683-5T>C
|
|
|
|
NM_001267550.2(TTN):c.42714T>C (p.His14238=)
|
|
|
|
NM_001267550.2(TTN):c.42748T>C (p.Leu14250=)
|
rs2154225733
|
|
|
NM_001267550.2(TTN):c.42756T>C (p.Cys14252=)
|
|
|
|
NM_001267550.2(TTN):c.42762G>C (p.Val14254=)
|
rs747807093
|
|
|
NM_001267550.2(TTN):c.42777A>G (p.Pro14259=)
|
|
|
|
NM_001267550.2(TTN):c.42780G>A (p.Val14260=)
|
rs2154225693
|
|
|
NM_001267550.2(TTN):c.42789C>T (p.Phe14263=)
|
rs2154225680
|
|
|
NM_001267550.2(TTN):c.42840T>C (p.Asp14280=)
|
rs760643071
|
|
|
NM_001267550.2(TTN):c.4284T>C (p.Ser1428=)
|
rs771454835
|
|
|
NM_001267550.2(TTN):c.42867A>G (p.Lys14289=)
|
|
|
|
NM_001267550.2(TTN):c.42873G>T (p.Ala14291=)
|
rs370216450
|
|
|
NM_001267550.2(TTN):c.4289C>A (p.Ala1430Glu)
|
rs577298130
|
|
|
NM_001267550.2(TTN):c.4291C>A (p.Arg1431=)
|
|
|
|
NM_001267550.2(TTN):c.42946+12A>G
|
|
|
|
NM_001267550.2(TTN):c.42946+16A>G
|
|
|
|
NM_001267550.2(TTN):c.42946+18G>A
|
rs2060047874
|
|
|
NM_001267550.2(TTN):c.42946+9C>T
|
|
|
|
NM_001267550.2(TTN):c.42947-11T>G
|
|
|
|
NM_001267550.2(TTN):c.42947-11dup
|
|
|
|
NM_001267550.2(TTN):c.42947-12_42947-11del
|
rs1352151183
|
|
|
NM_001267550.2(TTN):c.42947-18A>C
|
|
|
|
NM_001267550.2(TTN):c.42947-18A>T
|
rs766977954
|
|
|
NM_001267550.2(TTN):c.42947-4T>C
|
rs1576702813
|
|
|
NM_001267550.2(TTN):c.42947-6T>A
|
|
|
|
NM_001267550.2(TTN):c.42950G>C (p.Arg14317Pro)
|
rs727505144
|
|
|
NM_001267550.2(TTN):c.42987G>A (p.Glu14329=)
|
rs2154224724
|
|
|
NM_001267550.2(TTN):c.4299C>T (p.Ser1433=)
|
rs2092394103
|
|
|
NM_001267550.2(TTN):c.429A>G (p.Glu143=)
|
rs878966869
|
|
|
NM_001267550.2(TTN):c.43008C>T (p.Ala14336=)
|
|
|
|
NM_001267550.2(TTN):c.43011C>T (p.His14337=)
|
rs1312213401
|
|
|
NM_001267550.2(TTN):c.4302T>C (p.Pro1434=)
|
rs1561310756
|
|
|
NM_001267550.2(TTN):c.43044C>T (p.His14348=)
|
rs1060503970
|
|
|
NM_001267550.2(TTN):c.43050G>A (p.Gln14350=)
|
rs2154224533
|
|
|
NM_001267550.2(TTN):c.43077A>G (p.Thr14359=)
|
|
|
|
NM_001267550.2(TTN):c.43087-12C>T
|
|
|
|
NM_001267550.2(TTN):c.43087-16C>T
|
rs780230512
|
|
|
NM_001267550.2(TTN):c.43087-19T>C
|
|
|
|
NM_001267550.2(TTN):c.43087-8C>G
|
|
|
|
NM_001267550.2(TTN):c.43087-9T>C
|
|
|
|
NM_001267550.2(TTN):c.43098C>A (p.Ile14366=)
|
rs2154223614
|
|
|
NM_001267550.2(TTN):c.43158A>C (p.Gly14386=)
|
|
|
|
NM_001267550.2(TTN):c.43167C>G (p.Ser14389=)
|
rs375780439
|
|
|
NM_001267550.2(TTN):c.43170C>T (p.Phe14390=)
|
rs776508398
|
|
|
NM_001267550.2(TTN):c.43213+16C>T
|
rs1057520390
|
|
|
NM_001267550.2(TTN):c.43213+19C>T
|
|
|
|
NM_001267550.2(TTN):c.43214-13C>T
|
|
|
|
NM_001267550.2(TTN):c.43214-19C>T
|
|
|
|
NM_001267550.2(TTN):c.43242C>G (p.Leu14414=)
|
rs2059958378
|
|
|
NM_001267550.2(TTN):c.43255G>A (p.Val14419Ile)
|
rs529018517
|
|
|
NM_001267550.2(TTN):c.43263G>A (p.Glu14421=)
|
|
|
|
NM_001267550.2(TTN):c.43287T>C (p.Cys14429=)
|
rs2154222446
|
|
|
NM_001267550.2(TTN):c.4332G>A (p.Glu1444=)
|
|
|
|
NM_001267550.2(TTN):c.43371G>A (p.Lys14457=)
|
rs756061256
|
|
|
NM_001267550.2(TTN):c.43401G>A (p.Lys14467=)
|
rs751420847
|
|
|
NM_001267550.2(TTN):c.43404A>C (p.Ser14468=)
|
|
|
|
NM_001267550.2(TTN):c.43413T>C (p.Phe14471=)
|
|
|
|
NM_001267550.2(TTN):c.43455C>T (p.His14485=)
|
rs769249986
|
|
|
NM_001267550.2(TTN):c.43468C>T (p.Leu14490=)
|
rs2154221769
|
|
|
NM_001267550.2(TTN):c.43480+12T>C
|
|
|
|
NM_001267550.2(TTN):c.43480+13A>G
|
|
|
|
NM_001267550.2(TTN):c.43480+16A>G
|
|
|
|
NM_001267550.2(TTN):c.43480+17A>G
|
|
|
|
NM_001267550.2(TTN):c.43480+20A>G
|
rs375939057
|
|
|
NM_001267550.2(TTN):c.43480+7A>T
|
|
|
|
NM_001267550.2(TTN):c.43480+9T>G
|
|
|
|
NM_001267550.2(TTN):c.43481-12T>C
|
|
|
|
NM_001267550.2(TTN):c.43481-16dup
|
rs730880350
|
|
|
NM_001267550.2(TTN):c.43481-17_43481-14del
|
rs750300288
|
|
|
NM_001267550.2(TTN):c.43481-5G>A
|
rs2154220888
|
|
|
NM_001267550.2(TTN):c.43502C>G (p.Thr14501Ser)
|
rs115825044
|
|
|
NM_001267550.2(TTN):c.43530G>A (p.Glu14510=)
|
|
|
|
NM_001267550.2(TTN):c.43536A>G (p.Glu14512=)
|
rs776208084
|
|
|
NM_001267550.2(TTN):c.43545A>G (p.Val14515=)
|
rs2154220676
|
|
|
NM_001267550.2(TTN):c.43563T>C (p.Ser14521=)
|
|
|
|
NM_001267550.2(TTN):c.43575C>A (p.Ile14525=)
|
rs1300185874
|
|
|
NM_001267550.2(TTN):c.43599C>T (p.Asp14533=)
|
|
|
|
NM_001267550.2(TTN):c.43644G>A (p.Gly14548=)
|
|
|
|
NM_001267550.2(TTN):c.43662A>G (p.Thr14554=)
|
rs1218620496
|
|
|
NM_001267550.2(TTN):c.43710T>A (p.Ala14570=)
|
rs2154220572
|
|
|
NM_001267550.2(TTN):c.43737C>G (p.Leu14579=)
|
rs1296986671
|
|
|
NM_001267550.2(TTN):c.43747+12T>C
|
rs2154220556
|
|
|
NM_001267550.2(TTN):c.43747+18T>G
|
|
|
|
NM_001267550.2(TTN):c.43748-14T>C
|
|
|
|
NM_001267550.2(TTN):c.43748-15A>G
|
|
|
|
NM_001267550.2(TTN):c.43748-20C>T
|
|
|
|
NM_001267550.2(TTN):c.43748-4G>A
|
rs1301078575
|
|
|
NM_001267550.2(TTN):c.43752A>G (p.Gly14584=)
|
|
|
|
NM_001267550.2(TTN):c.43761T>C (p.Tyr14587=)
|
rs397517574
|
|
|
NM_001267550.2(TTN):c.43788T>G (p.Thr14596=)
|
rs2154220279
|
|
|
NM_001267550.2(TTN):c.43794A>C (p.Val14598=)
|
|
|
|
NM_001267550.2(TTN):c.43812T>C (p.Ile14604=)
|
rs2154220272
|
|
|
NM_001267550.2(TTN):c.43818G>A (p.Gln14606=)
|
|
|
|
NM_001267550.2(TTN):c.43830C>T (p.Ser14610=)
|
rs2154220267
|
|
|
NM_001267550.2(TTN):c.43839T>C (p.Asp14613=)
|
|
|
|
NM_001267550.2(TTN):c.43848G>T (p.Val14616=)
|
rs2154220258
|
|
|
NM_001267550.2(TTN):c.43905A>C (p.Ala14635=)
|
rs886042449
|
|
|
NM_001267550.2(TTN):c.43947A>G (p.Lys14649=)
|
rs2059746365
|
|
|
NM_001267550.2(TTN):c.43953T>C (p.Asp14651=)
|
|
|
|
NM_001267550.2(TTN):c.43956T>C (p.Ile14652=)
|
|
|
|
NM_001267550.2(TTN):c.43965C>T (p.Tyr14655=)
|
|
|
|
NM_001267550.2(TTN):c.43974C>T (p.Asp14658=)
|
|
|
|
NM_001267550.2(TTN):c.43980G>A (p.Gly14660=)
|
rs578020185
|
|
|
NM_001267550.2(TTN):c.44004T>C (p.Leu14668=)
|
rs1309317594
|
|
|
NM_001267550.2(TTN):c.44014+11T>C
|
rs1157212859
|
|
|
NM_001267550.2(TTN):c.44014+16dup
|
|
|
|
NM_001267550.2(TTN):c.44014+17G>A
|
|
|
|
NM_001267550.2(TTN):c.44014+9A>T
|
rs1384626629
|
|
|
NM_001267550.2(TTN):c.44015-14C>T
|
|
|
|
NM_001267550.2(TTN):c.44015-20C>T
|
|
|
|
NM_001267550.2(TTN):c.44015-6T>C
|
|
|
|
NM_001267550.2(TTN):c.44025T>A (p.Ile14675=)
|
|
|
|
NM_001267550.2(TTN):c.44028A>G (p.Lys14676=)
|
|
|
|
NM_001267550.2(TTN):c.44031G>C (p.Leu14677=)
|
|
|
|
NM_001267550.2(TTN):c.44034G>A (p.Val14678=)
|
|
|
|
NM_001267550.2(TTN):c.44043G>A (p.Leu14681=)
|
rs1399298498
|
|
|
NM_001267550.2(TTN):c.44043G>C (p.Leu14681=)
|
rs1399298498
|
|
|
NM_001267550.2(TTN):c.44082T>C (p.Phe14694=)
|
rs1576671359
|
|
|
NM_001267550.2(TTN):c.44088C>G (p.Thr14696=)
|
rs749706106
|
|
|
NM_001267550.2(TTN):c.44088C>T (p.Thr14696=)
|
rs749706106
|
|
|
NM_001267550.2(TTN):c.44109C>T (p.Ile14703=)
|
|
|
|
NM_001267550.2(TTN):c.4413G>A (p.Gly1471=)
|
rs2092384042
|
|
|
NM_001267550.2(TTN):c.44145C>T (p.Leu14715=)
|
|
|
|
NM_001267550.2(TTN):c.44154+10T>C
|
rs2059708087
|
|
|
NM_001267550.2(TTN):c.44154+18C>T
|
|
|
|
NM_001267550.2(TTN):c.44155-10G>C
|
rs1044877599
|
|
|
NM_001267550.2(TTN):c.44155-20T>C
|
|
|
|
NM_001267550.2(TTN):c.44155-4A>C
|
|
|
|
NM_001267550.2(TTN):c.44155-6G>T
|
rs2154219935
|
|
|
NM_001267550.2(TTN):c.4416A>G (p.Gln1472=)
|
|
|
|
NM_001267550.2(TTN):c.44175A>G (p.Glu14725=)
|
rs2154219926
|
|
|
NM_001267550.2(TTN):c.44193T>G (p.Leu14731=)
|
rs1576665318
|
|
|
NM_001267550.2(TTN):c.44197T>C (p.Leu14733=)
|
rs2059643840
|
|
|
NM_001267550.2(TTN):c.44210G>T (p.Arg14737Leu)
|
rs373298007
|
|
|
NM_001267550.2(TTN):c.44223G>C (p.Thr14741=)
|
rs368830196
|
|
|
NM_001267550.2(TTN):c.44281+18T>C
|
|
|
|
NM_001267550.2(TTN):c.44282-12C>G
|
|
|
|
NM_001267550.2(TTN):c.44292T>C (p.Ile14764=)
|
rs2154219455
|
|
|
NM_001267550.2(TTN):c.44322C>T (p.Thr14774=)
|
rs573695669
|
|
|
NM_001267550.2(TTN):c.44331A>G (p.Ala14777=)
|
rs1316025017
|
|
|
NM_001267550.2(TTN):c.44343C>G (p.Ala14781=)
|
rs2154219431
|
|
|
NM_001267550.2(TTN):c.44343C>T (p.Ala14781=)
|
|
|
|
NM_001267550.2(TTN):c.44373T>C (p.Asp14791=)
|
rs772552324
|
|
|
NM_001267550.2(TTN):c.44424+10A>G
|
|
|
|
NM_001267550.2(TTN):c.44424+16G>T
|
|
|
|
NM_001267550.2(TTN):c.44424+20T>C
|
|
|
|
NM_001267550.2(TTN):c.44425-19T>C
|
|
|
|
NM_001267550.2(TTN):c.44425-20C>A
|
|
|
|
NM_001267550.2(TTN):c.44425-8A>C
|
rs1576608720
|
|
|
NM_001267550.2(TTN):c.44427G>A (p.Val14809=)
|
|
|
|
NM_001267550.2(TTN):c.44442A>G (p.Glu14814=)
|
|
|
|
NM_001267550.2(TTN):c.44445A>G (p.Gly14815=)
|
|
|
|
NM_001267550.2(TTN):c.44454T>C (p.His14818=)
|
|
|
|
NM_001267550.2(TTN):c.4446T>C (p.Gly1482=)
|
|
|
|
NM_001267550.2(TTN):c.44475A>C (p.Val14825=)
|
rs1576607946
|
|
|
NM_001267550.2(TTN):c.44490T>C (p.Ala14830=)
|
rs1060503932
|
|
|
NM_001267550.2(TTN):c.44517T>C (p.Asp14839=)
|
rs1025034041
|
|
|
NM_001267550.2(TTN):c.44548+17T>C
|
|
|
|
NM_001267550.2(TTN):c.44549-15G>A
|
|
|
|
NM_001267550.2(TTN):c.44549-16A>C
|
rs908331677
|
|
|
NM_001267550.2(TTN):c.44549-18T>C
|
|
|
|
NM_001267550.2(TTN):c.44549-22_44549-20dup
|
|
|
|
NM_001267550.2(TTN):c.44556A>C (p.Pro14852=)
|
|
|
|
NM_001267550.2(TTN):c.4458A>G (p.Pro1486=)
|
rs2154346768
|
|
|
NM_001267550.2(TTN):c.44592C>G (p.Val14864=)
|
rs397517578
|
|
|
NM_001267550.2(TTN):c.44616G>A (p.Leu14872=)
|
|
|
|
NM_001267550.2(TTN):c.4461G>A (p.Glu1487=)
|
rs1574678821
|
|
|
NM_001267550.2(TTN):c.44643T>C (p.Ala14881=)
|
|
|
|
NM_001267550.2(TTN):c.4464G>A (p.Thr1488=)
|
rs1287524221
|
|
|
NM_001267550.2(TTN):c.44664T>C (p.Asn14888=)
|
rs2058758077
|
|
|
NM_001267550.2(TTN):c.44667G>A (p.Gly14889=)
|
rs746287950
|
|
|
NM_001267550.2(TTN):c.44700T>C (p.Ile14900=)
|
|
|
|
NM_001267550.2(TTN):c.44709T>C (p.Asp14903=)
|
|
|
|
NM_001267550.2(TTN):c.44712C>T (p.Gly14904=)
|
|
|
|
NM_001267550.2(TTN):c.44733A>T (p.Ile14911=)
|
rs751425454
|
|
|
NM_001267550.2(TTN):c.44745C>A (p.Thr14915=)
|
rs762145326
|
|
|
NM_001267550.2(TTN):c.44745C>T (p.Thr14915=)
|
|
|
|
NM_001267550.2(TTN):c.44778T>C (p.Ala14926=)
|
|
|
|
NM_001267550.2(TTN):c.44790G>A (p.Lys14930=)
|
rs886042667
|
|
|
NM_001267550.2(TTN):c.4480+14G>A
|
rs2154346741
|
|
|
NM_001267550.2(TTN):c.4480+7G>A
|
rs1554009657
|
|
|
NM_001267550.2(TTN):c.44803C>T (p.Leu14935=)
|
|
|
|
NM_001267550.2(TTN):c.4481-16A>C
|
rs1364656520
|
|
|
NM_001267550.2(TTN):c.4481-18T>C
|
rs2154346676
|
|
|
NM_001267550.2(TTN):c.44815+13_44815+15del
|
|
|
|
NM_001267550.2(TTN):c.44815+14T>C
|
rs2058737403
|
|
|
NM_001267550.2(TTN):c.44815+19A>C
|
|
|
|
NM_001267550.2(TTN):c.44816-15G>T
|
|
|
|
NM_001267550.2(TTN):c.44816-16T>C
|
|
|
|
NM_001267550.2(TTN):c.4482C>T (p.Gly1494=)
|
|
|
|
NM_001267550.2(TTN):c.44850C>T (p.Asp14950=)
|
|
|
|
NM_001267550.2(TTN):c.44913+10dup
|
rs745700983
|
|
|
NM_001267550.2(TTN):c.44913+11_44913+13dup
|
|
|
|
NM_001267550.2(TTN):c.44914-7A>T
|
|
|
|
NM_001267550.2(TTN):c.44931T>C (p.Asp14977=)
|
rs1253945810
|
|
|
NM_001267550.2(TTN):c.44937T>C (p.Ala14979=)
|
rs370413913
|
|
|
NM_001267550.2(TTN):c.44937T>G (p.Ala14979=)
|
rs370413913
|
|
|
NM_001267550.2(TTN):c.44943T>C (p.Ile14981=)
|
rs2058359486
|
|
|
NM_001267550.2(TTN):c.44952C>A (p.Gly14984=)
|
|
|
|
NM_001267550.2(TTN):c.44964C>T (p.Asp14988=)
|
rs2154212467
|
|
|
NM_001267550.2(TTN):c.45006A>G (p.Lys15002=)
|
|
|
|
NM_001267550.2(TTN):c.45053C>A (p.Ala15018Glu)
|
rs72677221
|
|
|
NM_001267550.2(TTN):c.4506C>A (p.Thr1502=)
|
|
|
|
NM_001267550.2(TTN):c.45082+14C>T
|
|
|
|
NM_001267550.2(TTN):c.45082+16T>C
|
|
|
|
NM_001267550.2(TTN):c.45082+8T>A
|
rs2058334835
|
|
|
NM_001267550.2(TTN):c.45082+9A>G
|
rs2154212317
|
|
|
NM_001267550.2(TTN):c.45083-11A>G
|
|
|
|
NM_001267550.2(TTN):c.45083-13T>C
|
|
|
|
NM_001267550.2(TTN):c.45083-18T>G
|
rs2154212232
|
|
|
NM_001267550.2(TTN):c.45083-19G>T
|
|
|
|
NM_001267550.2(TTN):c.45083-19_45083-15del
|
rs781409618
|
|
|
NM_001267550.2(TTN):c.45083-20T>C
|
|
|
|
NM_001267550.2(TTN):c.45083-9T>C
|
rs1576565439
|
|
|
NM_001267550.2(TTN):c.45120T>C (p.Ile15040=)
|
rs74580375
|
|
|
NM_001267550.2(TTN):c.45135A>G (p.Thr15045=)
|
rs2154212161
|
|
|
NM_001267550.2(TTN):c.45141T>C (p.Thr15047=)
|
|
|
|
NM_001267550.2(TTN):c.45174C>A (p.Gly15058=)
|
rs372609980
|
|
|
NM_001267550.2(TTN):c.45204G>A (p.Glu15068=)
|
rs1177639165
|
|
|
NM_001267550.2(TTN):c.45216A>G (p.Glu15072=)
|
rs2154212088
|
|
|
NM_001267550.2(TTN):c.45240T>A (p.Thr15080=)
|
rs2154212069
|
|
|
NM_001267550.2(TTN):c.45247C>A (p.Arg15083=)
|
|
|
|
NM_001267550.2(TTN):c.45258C>T (p.Ile15086=)
|
|
|
|
NM_001267550.2(TTN):c.45279C>T (p.His15093=)
|
rs775159704
|
|
|
NM_001267550.2(TTN):c.4527A>G (p.Glu1509=)
|
rs2154346647
|
|
|
NM_001267550.2(TTN):c.45300C>T (p.Tyr15100=)
|
|
|
|
NM_001267550.2(TTN):c.4533T>C (p.Gly1511=)
|
|
|
|
NM_001267550.2(TTN):c.45349+13_45349+14del
|
|
|
|
NM_001267550.2(TTN):c.45350-12T>C
|
|
|
|
NM_001267550.2(TTN):c.45350-18G>T
|
|
|
|
NM_001267550.2(TTN):c.45350-20T>C
|
|
|
|
NM_001267550.2(TTN):c.45351A>G (p.Glu15117=)
|
|
|
|
NM_001267550.2(TTN):c.45372A>G (p.Ser15124=)
|
|
|
|
NM_001267550.2(TTN):c.45381A>G (p.Gln15127=)
|
rs2058234369
|
|
|
NM_001267550.2(TTN):c.4539A>G (p.Gln1513=)
|
rs2092360060
|
|
|
NM_001267550.2(TTN):c.45423C>T (p.Cys15141=)
|
rs879023017
|
|
|
NM_001267550.2(TTN):c.45435A>G (p.Lys15145=)
|
|
|
|
NM_001267550.2(TTN):c.4543C>T (p.Leu1515=)
|
rs1465910141
|
|
|
NM_001267550.2(TTN):c.45477T>G (p.Leu15159=)
|
|
|
|
NM_001267550.2(TTN):c.4548T>A (p.Ile1516=)
|
|
|
|
NM_001267550.2(TTN):c.45510T>C (p.Asp15170=)
|
|
|
|
NM_001267550.2(TTN):c.45547T>C (p.Leu15183=)
|
|
|
|
NM_001267550.2(TTN):c.45555T>C (p.Asp15185=)
|
|
|
|
NM_001267550.2(TTN):c.4557T>C (p.Pro1519=)
|
rs1574674675
|
|
|
NM_001267550.2(TTN):c.45588C>T (p.Ala15196=)
|
|
|
|
NM_001267550.2(TTN):c.45616+10T>C
|
|
|
|
NM_001267550.2(TTN):c.45616+11T>A
|
|
|
|
NM_001267550.2(TTN):c.45616+16C>G
|
rs556605702
|
|
|
NM_001267550.2(TTN):c.45616+18T>C
|
rs2154211592
|
|
|
NM_001267550.2(TTN):c.45616+20T>A
|
|
|
|
NM_001267550.2(TTN):c.45616+3_45616+6dup
|
rs1373938186
|
|
|
NM_001267550.2(TTN):c.45617-14T>G
|
|
|
|
NM_001267550.2(TTN):c.45617-15G>A
|
|
|
|
NM_001267550.2(TTN):c.45617-8G>A
|
|
|
|
NM_001267550.2(TTN):c.4563A>T (p.Thr1521=)
|
|
|
|
NM_001267550.2(TTN):c.45657G>A (p.Val15219=)
|
rs1475354606
|
|
|
NM_001267550.2(TTN):c.45693C>T (p.Val15231=)
|
rs2154211444
|
|
|
NM_001267550.2(TTN):c.45708C>T (p.Ala15236=)
|
rs760790889
|
|
|
NM_001267550.2(TTN):c.4575T>C (p.Ser1525=)
|
|
|
|
NM_001267550.2(TTN):c.45765T>C (p.Ile15255=)
|
|
|
|
NM_001267550.2(TTN):c.45792C>G (p.Leu15264=)
|
rs754067884
|
|
|
NM_001267550.2(TTN):c.45798T>C (p.Ile15266=)
|
|
|
|
NM_001267550.2(TTN):c.45870A>G (p.Lys15290=)
|
rs562309540
|
|
|
NM_001267550.2(TTN):c.45895+15T>C
|
|
|
|
NM_001267550.2(TTN):c.45895+17C>A
|
|
|
|
NM_001267550.2(TTN):c.45895+17C>T
|
rs1559872244
|
|
|
NM_001267550.2(TTN):c.45895+20C>T
|
rs2154211234
|
|
|
NM_001267550.2(TTN):c.45895+9T>C
|
rs897474129
|
|
|
NM_001267550.2(TTN):c.45896-11del
|
|
|
|
NM_001267550.2(TTN):c.45896-19T>A
|
rs1359624569
|
|
|
NM_001267550.2(TTN):c.45896-20A>G
|
|
|
|
NM_001267550.2(TTN):c.45909G>A (p.Arg15303=)
|
|
|
|
NM_001267550.2(TTN):c.45954T>C (p.Ser15318=)
|
|
|
|
NM_001267550.2(TTN):c.45978T>C (p.Asn15326=)
|
rs1576547094
|
|
|
NM_001267550.2(TTN):c.46023G>A (p.Val15341=)
|
|
|
|
NM_001267550.2(TTN):c.46053T>G (p.Val15351=)
|
|
|
|
NM_001267550.2(TTN):c.46065G>C (p.Lys15355Asn)
|
rs397517583
|
|
|
NM_001267550.2(TTN):c.46092C>A (p.Gly15364=)
|
rs1469653601
|
|
|
NM_001267550.2(TTN):c.46095C>T (p.Phe15365=)
|
rs2058091272
|
|
|
NM_001267550.2(TTN):c.46128A>G (p.Gly15376=)
|
rs2154210997
|
|
|
NM_001267550.2(TTN):c.46142T>C (p.Val15381Ala)
|
rs369269320
|
|
|
NM_001267550.2(TTN):c.46155C>A (p.Leu15385=)
|
rs1394331445
|
|
|
NM_001267550.2(TTN):c.46170G>A (p.Pro15390=)
|
rs747163190
|
|
|
NM_001267550.2(TTN):c.46188C>T (p.His15396=)
|
|
|
|
NM_001267550.2(TTN):c.46200G>A (p.Gln15400=)
|
|
|
|
NM_001267550.2(TTN):c.46206C>T (p.Val15402=)
|
|
|
|
NM_001267550.2(TTN):c.46215C>T (p.Phe15405=)
|
rs779560487
|
|
|
NM_001267550.2(TTN):c.46236C>T (p.Cys15412=)
|
|
|
|
NM_001267550.2(TTN):c.4623T>A (p.Ile1541=)
|
|
|
|
NM_001267550.2(TTN):c.46242C>A (p.Leu15414=)
|
|
|
|
NM_001267550.2(TTN):c.46260T>C (p.Asn15420=)
|
|
|
|
NM_001267550.2(TTN):c.46282A>C (p.Arg15428=)
|
rs2154210851
|
|
|
NM_001267550.2(TTN):c.46299C>A (p.Gly15433=)
|
rs1414425479
|
|
|
NM_001267550.2(TTN):c.46299C>G (p.Gly15433=)
|
rs1414425479
|
|
|
NM_001267550.2(TTN):c.462A>G (p.Gln154=)
|
|
|
|
NM_001267550.2(TTN):c.46304+15_46304+16insTA
|
|
|
|
NM_001267550.2(TTN):c.46304+7A>G
|
|
|
|
NM_001267550.2(TTN):c.46305-11G>A
|
rs2154210720
|
|
|
NM_001267550.2(TTN):c.46305-16C>T
|
|
|
|
NM_001267550.2(TTN):c.46305-18A>G
|
|
|
|
NM_001267550.2(TTN):c.46305-7C>T
|
|
|
|
NM_001267550.2(TTN):c.46329T>C (p.Ser15443=)
|
rs1232874309
|
|
|
NM_001267550.2(TTN):c.46359G>A (p.Arg15453=)
|
rs1553714751
|
|
|
NM_001267550.2(TTN):c.46362G>C (p.Leu15454=)
|
rs964036554
|
|
|
NM_001267550.2(TTN):c.46380T>C (p.Tyr15460=)
|
|
|
|
NM_001267550.2(TTN):c.46389G>T (p.Gly15463=)
|
|
|
|
NM_001267550.2(TTN):c.46392A>G (p.Val15464=)
|
|
|
|
NM_001267550.2(TTN):c.46429+20A>G
|
|
|
|
NM_001267550.2(TTN):c.46429+7A>G
|
|
|
|
NM_001267550.2(TTN):c.46429+8T>C
|
rs1392048853
|
|
|
NM_001267550.2(TTN):c.46429+9T>C
|
|
|
|
NM_001267550.2(TTN):c.46430-14C>T
|
rs369753681
|
|
|
NM_001267550.2(TTN):c.46430-24ATTT[3]
|
|
|
|
NM_001267550.2(TTN):c.46449C>A (p.Ile15483=)
|
|
|
|
NM_001267550.2(TTN):c.4645+18A>G
|
|
|
|
NM_001267550.2(TTN):c.4645+18A>T
|
|
|
|
NM_001267550.2(TTN):c.4645+8G>A
|
|
|
|
NM_001267550.2(TTN):c.4645+9A>G
|
|
|
|
NM_001267550.2(TTN):c.4646-14C>T
|
|
|
|
NM_001267550.2(TTN):c.4646-18A>G
|
rs779819518
|
|
|
NM_001267550.2(TTN):c.46461A>G (p.Gln15487=)
|
rs2154210608
|
|
|
NM_001267550.2(TTN):c.46473A>G (p.Glu15491=)
|
|
|
|
NM_001267550.2(TTN):c.46483G>A (p.Ala15495Thr)
|
rs537428006
|
|
|
NM_001267550.2(TTN):c.46488T>C (p.Asp15496=)
|
rs1576537611
|
|
|
NM_001267550.2(TTN):c.46503A>G (p.Ala15501=)
|
|
|
|
NM_001267550.2(TTN):c.46530C>A (p.Val15510=)
|
rs879227690
|
|
|
NM_001267550.2(TTN):c.46533A>G (p.Gln15511=)
|
|
|
|
NM_001267550.2(TTN):c.46569T>C (p.Asp15523=)
|
rs1553713980
|
|
|
NM_001267550.2(TTN):c.46590A>G (p.Glu15530=)
|
rs1559861805
|
|
|
NM_001267550.2(TTN):c.46596G>A (p.Lys15532=)
|
|
|
|
NM_001267550.2(TTN):c.465A>G (p.Glu155=)
|
|
|
|
NM_001267550.2(TTN):c.46602T>C (p.His15534=)
|
|
|
|
NM_001267550.2(TTN):c.46659C>G (p.Ala15553=)
|
rs876657606
|
|
|
NM_001267550.2(TTN):c.46674C>G (p.Ala15558=)
|
rs2154210546
|
|
|
NM_001267550.2(TTN):c.46686T>C (p.Leu15562=)
|
rs2154210539
|
|
|
NM_001267550.2(TTN):c.46690C>T (p.Leu15564=)
|
|
|
|
NM_001267550.2(TTN):c.46696+7C>A
|
rs2057968229
|
|
|
NM_001267550.2(TTN):c.46697-10_46697-7del
|
rs1576523012
|
|
|
NM_001267550.2(TTN):c.46697-13T>C
|
|
|
|
NM_001267550.2(TTN):c.46697-14A>G
|
rs371310030
|
|
|
NM_001267550.2(TTN):c.46697-14_46697-13del
|
|
|
|
NM_001267550.2(TTN):c.46697-17G>A
|
|
|
|
NM_001267550.2(TTN):c.46740T>C (p.Asp15580=)
|
rs2154209930
|
|
|
NM_001267550.2(TTN):c.46767G>A (p.Val15589=)
|
|
|
|
NM_001267550.2(TTN):c.46770A>G (p.Pro15590=)
|
|
|
|
NM_001267550.2(TTN):c.46779C>T (p.Ala15593=)
|
rs1206473213
|
|
|
NM_001267550.2(TTN):c.46818A>G (p.Glu15606=)
|
|
|
|
NM_001267550.2(TTN):c.46823T>C (p.Leu15608Ser)
|
rs397517588
|
|
|
NM_001267550.2(TTN):c.46824A>G (p.Leu15608=)
|
|
|
|
NM_001267550.2(TTN):c.46842T>C (p.Asp15614=)
|
|
|
|
NM_001267550.2(TTN):c.46848G>A (p.Thr15616=)
|
|
|
|
NM_001267550.2(TTN):c.46848G>T (p.Thr15616=)
|
rs766610061
|
|
|
NM_001267550.2(TTN):c.46869A>G (p.Arg15623=)
|
|
|
|
NM_001267550.2(TTN):c.4686G>T (p.Leu1562=)
|
rs2154346540
|
|
|
NM_001267550.2(TTN):c.46872T>C (p.Ile15624=)
|
rs2154209806
|
|
|
NM_001267550.2(TTN):c.46941A>G (p.Glu15647=)
|
rs2154209766
|
|
|
NM_001267550.2(TTN):c.46966+10T>A
|
rs1559852271
|
|
|
NM_001267550.2(TTN):c.46966+13G>A
|
|
|
|
NM_001267550.2(TTN):c.46966+8C>A
|
rs2154209732
|
|
|
NM_001267550.2(TTN):c.46967-12T>C
|
rs2154209612
|
|
|
NM_001267550.2(TTN):c.46967-16T>C
|
|
|
|
NM_001267550.2(TTN):c.46980A>G (p.Pro15660=)
|
|
|
|
NM_001267550.2(TTN):c.46989C>T (p.Asn15663=)
|
rs2154209574
|
|
|
NM_001267550.2(TTN):c.46990T>C (p.Leu15664=)
|
|
|
|
NM_001267550.2(TTN):c.46998G>C (p.Val15666=)
|
|
|
|
NM_001267550.2(TTN):c.47013T>C (p.Asp15671=)
|
rs1553711771
|
|
|
NM_001267550.2(TTN):c.47052T>C (p.Asp15684=)
|
|
|
|
NM_001267550.2(TTN):c.47055T>C (p.Gly15685=)
|
rs2154209546
|
|
|
NM_001267550.2(TTN):c.47070A>C (p.Ile15690=)
|
|
|
|
NM_001267550.2(TTN):c.47076C>T (p.Tyr15692=)
|
|
|
|
NM_001267550.2(TTN):c.47103A>G (p.Arg15701=)
|
|
|
|
NM_001267550.2(TTN):c.47109C>T (p.Thr15703=)
|
rs1576516524
|
|
|
NM_001267550.2(TTN):c.47124A>T (p.Thr15708=)
|
|
|
|
NM_001267550.2(TTN):c.47127C>T (p.Asp15709=)
|
|
|
|
NM_001267550.2(TTN):c.47130T>G (p.Arg15710=)
|
|
|
|
NM_001267550.2(TTN):c.47136G>A (p.Glu15712=)
|
rs1477248428
|
|
|
NM_001267550.2(TTN):c.47139T>C (p.Ser15713=)
|
rs1576516161
|
|
|
NM_001267550.2(TTN):c.4716A>C (p.Arg1572=)
|
|
|
|
NM_001267550.2(TTN):c.47175A>G (p.Gly15725=)
|
rs2154209474
|
|
|
NM_001267550.2(TTN):c.47190C>T (p.Phe15730=)
|
|
|
|
NM_001267550.2(TTN):c.47199T>C (p.Ser15733=)
|
rs771136686
|
|
|
NM_001267550.2(TTN):c.47259G>A (p.Arg15753=)
|
rs961585462
|
|
|
NM_001267550.2(TTN):c.47269+12T>C
|
|
|
|
NM_001267550.2(TTN):c.47269+9T>A
|
|
|
|
NM_001267550.2(TTN):c.47269+9T>C
|
|
|
|
NM_001267550.2(TTN):c.47270-14G>A
|
|
|
|
NM_001267550.2(TTN):c.47287T>C (p.Leu15763=)
|
|
|
|
NM_001267550.2(TTN):c.47298C>T (p.Thr15766=)
|
rs1323015535
|
|
|
NM_001267550.2(TTN):c.47322T>C (p.Gly15774=)
|
rs1576511180
|
|
|
NM_001267550.2(TTN):c.47346A>G (p.Pro15782=)
|
|
|
|
NM_001267550.2(TTN):c.4734A>G (p.Arg1578=)
|
rs2154346510
|
|
|
NM_001267550.2(TTN):c.47364T>G (p.Ala15788=)
|
|
|
|
NM_001267550.2(TTN):c.47382C>G (p.Val15794=)
|
|
|
|
NM_001267550.2(TTN):c.4740G>C (p.Thr1580=)
|
|
|
|
NM_001267550.2(TTN):c.47421T>C (p.Thr15807=)
|
|
|
|
NM_001267550.2(TTN):c.47439T>C (p.Ala15813=)
|
|
|
|
NM_001267550.2(TTN):c.47446C>T (p.Leu15816=)
|
|
|
|
NM_001267550.2(TTN):c.47457T>C (p.Thr15819=)
|
|
|
|
NM_001267550.2(TTN):c.47493C>T (p.Phe15831=)
|
rs2154209071
|
|
|
NM_001267550.2(TTN):c.47494C>A (p.Arg15832=)
|
|
|
|
NM_001267550.2(TTN):c.47499G>A (p.Val15833=)
|
|
|
|
NM_001267550.2(TTN):c.4749C>T (p.Pro1583=)
|
rs2154346505
|
|
|
NM_001267550.2(TTN):c.47511T>C (p.Asn15837=)
|
|
|
|
NM_001267550.2(TTN):c.4752C>T (p.Asn1584=)
|
rs879252955
|
|
|
NM_001267550.2(TTN):c.47550C>T (p.Phe15850=)
|
rs113350914
|
|
|
NM_001267550.2(TTN):c.47568A>G (p.Pro15856=)
|
|
|
|
NM_001267550.2(TTN):c.47572+19G>T
|
rs2057624348
|
|
|
NM_001267550.2(TTN):c.47573-13T>A
|
|
|
|
NM_001267550.2(TTN):c.47573-13T>C
|
|
|
|
NM_001267550.2(TTN):c.47573-19A>C
|
|
|
|
NM_001267550.2(TTN):c.47573-8T>C
|
|
|
|
NM_001267550.2(TTN):c.47589T>C (p.Pro15863=)
|
|
|
|
NM_001267550.2(TTN):c.47592A>G (p.Val15864=)
|
rs2154208760
|
|
|
NM_001267550.2(TTN):c.4761T>C (p.Ile1587=)
|
rs2092325624
|
|
|
NM_001267550.2(TTN):c.47622A>G (p.Ser15874=)
|
|
|
|
NM_001267550.2(TTN):c.47628T>C (p.Val15876=)
|
|
|
|
NM_001267550.2(TTN):c.47649T>A (p.Pro15883=)
|
rs762471690
|
|
|
NM_001267550.2(TTN):c.47652G>C (p.Leu15884=)
|
rs1018824321
|
|
|
NM_001267550.2(TTN):c.47658T>C (p.Asp15886=)
|
|
|
|
NM_001267550.2(TTN):c.47661A>G (p.Gly15887=)
|
|
|
|
NM_001267550.2(TTN):c.47688T>C (p.Ile15896=)
|
|
|
|
NM_001267550.2(TTN):c.47700A>G (p.Glu15900=)
|
rs749428085
|
|
|
NM_001267550.2(TTN):c.47715T>C (p.Asn15905=)
|
rs1559839662
|
|
|
NM_001267550.2(TTN):c.47727C>T (p.Cys15909=)
|
rs750029508
|
|
|
NM_001267550.2(TTN):c.47742C>A (p.Val15914=)
|
|
|
|
NM_001267550.2(TTN):c.47742C>T (p.Val15914=)
|
|
|
|
NM_001267550.2(TTN):c.47751G>A (p.Leu15917=)
|
rs2154208648
|
|
|
NM_001267550.2(TTN):c.47760+12G>A
|
|
|
|
NM_001267550.2(TTN):c.47760+13C>T
|
|
|
|
NM_001267550.2(TTN):c.47760+18A>G
|
|
|
|
NM_001267550.2(TTN):c.47761-15_47761-12del
|
rs778074908
|
|
|
NM_001267550.2(TTN):c.47761-16T>C
|
|
|
|
NM_001267550.2(TTN):c.47761-4G>C
|
rs564918195
|
|
|
NM_001267550.2(TTN):c.47761-9T>C
|
|
|
|
NM_001267550.2(TTN):c.47778A>G (p.Lys15926=)
|
|
|
|
NM_001267550.2(TTN):c.47802A>C (p.Val15934=)
|
rs1553708481
|
|
|
NM_001267550.2(TTN):c.47805T>G (p.Ser15935=)
|
rs918631230
|
|
|
NM_001267550.2(TTN):c.47832T>C (p.Asp15944=)
|
rs2154208503
|
|
|
NM_001267550.2(TTN):c.47838T>G (p.Ser15946=)
|
|
|
|
NM_001267550.2(TTN):c.47856C>T (p.Leu15952=)
|
rs1362019752
|
|
|
NM_001267550.2(TTN):c.47875+10T>C
|
|
|
|
NM_001267550.2(TTN):c.47875+12T>C
|
rs758849410
|
|
|
NM_001267550.2(TTN):c.47875+17T>C
|
|
|
|
NM_001267550.2(TTN):c.47875+8G>A
|
rs144688960
|
|
|
NM_001267550.2(TTN):c.47875+8G>T
|
|
|
|
NM_001267550.2(TTN):c.47875+8_47875+11del
|
rs2154208459
|
|
|
NM_001267550.2(TTN):c.47876-10T>C
|
|
|
|
NM_001267550.2(TTN):c.47876-11C>A
|
|
|
|
NM_001267550.2(TTN):c.47876-17A>T
|
|
|
|
NM_001267550.2(TTN):c.47876-18_47876-14dup
|
rs1559835777
|
|
|
NM_001267550.2(TTN):c.47886A>C (p.Thr15962=)
|
|
|
|
NM_001267550.2(TTN):c.47892T>C (p.Asp15964=)
|
rs727503623
|
|
|
NM_001267550.2(TTN):c.47898T>C (p.Ser15966=)
|
rs2154208346
|
|
|
NM_001267550.2(TTN):c.4794T>G (p.Pro1598=)
|
rs2154346489
|
|
|
NM_001267550.2(TTN):c.47985C>G (p.Thr15995=)
|
rs2057437316
|
|
|
NM_001267550.2(TTN):c.47994T>C (p.Phe15998=)
|
rs2154208306
|
|
|
NM_001267550.2(TTN):c.48022C>A (p.Arg16008=)
|
|
|
|
NM_001267550.2(TTN):c.48024G>T (p.Arg16008=)
|
rs780824428
|
|
|
NM_001267550.2(TTN):c.48081T>A (p.Arg16027=)
|
rs754088360
|
|
|
NM_001267550.2(TTN):c.48117C>T (p.Asn16039=)
|
|
|
|
NM_001267550.2(TTN):c.4814+16A>G
|
|
|
|
NM_001267550.2(TTN):c.4814+18A>G
|
rs2092313768
|
|
|
NM_001267550.2(TTN):c.4814+9G>A
|
rs768137657
|
|
|
NM_001267550.2(TTN):c.4814+9G>C
|
rs768137657
|
|
|
NM_001267550.2(TTN):c.4815-10C>T
|
rs2154346415
|
|
|
NM_001267550.2(TTN):c.4815-15C>T
|
rs2154346421
|
|
|
NM_001267550.2(TTN):c.4815-6T>C
|
rs2154346410
|
|
|
NM_001267550.2(TTN):c.48153T>C (p.Asn16051=)
|
rs1445636202
|
|
|
NM_001267550.2(TTN):c.48160+11A>G
|
rs2154208228
|
|
|
NM_001267550.2(TTN):c.48160+19A>G
|
|
|
|
NM_001267550.2(TTN):c.48160+9C>T
|
|
|
|
NM_001267550.2(TTN):c.48161-16G>A
|
|
|
|
NM_001267550.2(TTN):c.48161-19dup
|
|
|
|
NM_001267550.2(TTN):c.48161-20G>A
|
|
|
|
NM_001267550.2(TTN):c.48161-4T>C
|
|
|
|
NM_001267550.2(TTN):c.48174A>G (p.Ala16058=)
|
rs2154208109
|
|
|
NM_001267550.2(TTN):c.48225T>C (p.Thr16075=)
|
rs2057381379
|
|
|
NM_001267550.2(TTN):c.48240T>C (p.Asp16080=)
|
|
|
|
NM_001267550.2(TTN):c.48252A>G (p.Gly16084=)
|
rs749269667
|
|
|
NM_001267550.2(TTN):c.48264T>C (p.Thr16088=)
|
|
|
|
NM_001267550.2(TTN):c.48267A>T (p.Gly16089=)
|
rs2154208050
|
|
|
NM_001267550.2(TTN):c.4827C>G (p.Thr1609=)
|
|
|
|
NM_001267550.2(TTN):c.48291C>T (p.Val16097=)
|
rs1278318251
|
|
|
NM_001267550.2(TTN):c.48313-13T>C
|
rs2154207052
|
|
|
NM_001267550.2(TTN):c.48313-14T>C
|
|
|
|
NM_001267550.2(TTN):c.48315T>A (p.Val16105=)
|
rs765925101
|
|
|
NM_001267550.2(TTN):c.48330T>C (p.Thr16110=)
|
rs557105262
|
|
|
NM_001267550.2(TTN):c.48357T>C (p.Leu16119=)
|
|
|
|
NM_001267550.2(TTN):c.48369A>G (p.Lys16123=)
|
|
|
|
NM_001267550.2(TTN):c.48396T>C (p.Arg16132=)
|
rs902321645
|
|
|
NM_001267550.2(TTN):c.483A>G (p.Leu161=)
|
rs2154359016
|
|
|
NM_001267550.2(TTN):c.48441A>G (p.Val16147=)
|
rs2154206902
|
|
|
NM_001267550.2(TTN):c.48456T>C (p.Pro16152=)
|
|
|
|
NM_001267550.2(TTN):c.48460+13T>G
|
|
|
|
NM_001267550.2(TTN):c.48461-17T>C
|
|
|
|
NM_001267550.2(TTN):c.48461-18C>T
|
rs759697221
|
|
|
NM_001267550.2(TTN):c.48461-20C>G
|
|
|
|
NM_001267550.2(TTN):c.48461-7G>A
|
rs548241708
|
|
|
NM_001267550.2(TTN):c.48461-8T>C
|
|
|
|
NM_001267550.2(TTN):c.48468T>C (p.Pro16156=)
|
rs1159928426
|
|
|
NM_001267550.2(TTN):c.48499C>A (p.Arg16167=)
|
rs1312425985
|
|
|
NM_001267550.2(TTN):c.48501A>G (p.Arg16167=)
|
|
|
|
NM_001267550.2(TTN):c.48501A>T (p.Arg16167=)
|
rs756706802
|
|
|
NM_001267550.2(TTN):c.48510T>C (p.Asn16170=)
|
rs2154206090
|
|
|
NM_001267550.2(TTN):c.48516C>A (p.Ile16172=)
|
rs2154206083
|
|
|
NM_001267550.2(TTN):c.48522A>G (p.Leu16174=)
|
rs1347459702
|
|
|
NM_001267550.2(TTN):c.48534A>T (p.Pro16178=)
|
|
|
|
NM_001267550.2(TTN):c.48576T>C (p.Val16192=)
|
|
|
|
NM_001267550.2(TTN):c.48579A>G (p.Glu16193=)
|
|
|
|
NM_001267550.2(TTN):c.48612C>T (p.Ala16204=)
|
rs886043341
|
|
|
NM_001267550.2(TTN):c.48636A>T (p.Thr16212=)
|
|
|
|
NM_001267550.2(TTN):c.48638+10T>C
|
|
|
|
NM_001267550.2(TTN):c.48638+14T>C
|
rs766412535
|
|
|
NM_001267550.2(TTN):c.48638+19A>C
|
rs766114993
|
|
|
NM_001267550.2(TTN):c.48638+19A>G
|
|
|
|
NM_001267550.2(TTN):c.48639-14_48639-13del
|
rs778189928
|
|
|
NM_001267550.2(TTN):c.48639-18T>C
|
|
|
|
NM_001267550.2(TTN):c.48657T>C (p.Leu16219=)
|
|
|
|
NM_001267550.2(TTN):c.48660G>A (p.Glu16220=)
|
|
|
|
NM_001267550.2(TTN):c.48666C>A (p.Gly16222=)
|
|
|
|
NM_001267550.2(TTN):c.48681C>T (p.Tyr16227=)
|
|
|
|
NM_001267550.2(TTN):c.48693C>T (p.Ala16231=)
|
rs2154202895
|
|
|
NM_001267550.2(TTN):c.48723C>T (p.Ser16241=)
|
|
|
|
NM_001267550.2(TTN):c.48747T>C (p.Ala16249=)
|
|
|
|
NM_001267550.2(TTN):c.48750G>A (p.Val16250=)
|
|
|
|
NM_001267550.2(TTN):c.48753C>T (p.Asp16251=)
|
|
|
|
NM_001267550.2(TTN):c.48760+13G>T
|
|
|
|
NM_001267550.2(TTN):c.48760+17T>A
|
rs932428446
|
|
|
NM_001267550.2(TTN):c.48760+20G>T
|
|
|
|
NM_001267550.2(TTN):c.48761-15T>C
|
|
|
|
NM_001267550.2(TTN):c.48761-20A>C
|
|
|
|
NM_001267550.2(TTN):c.48761-8C>T
|
|
|
|
NM_001267550.2(TTN):c.48761-9C>T
|
|
|
|
NM_001267550.2(TTN):c.48765C>T (p.Ala16255=)
|
rs1038311185
|
|
|
NM_001267550.2(TTN):c.48777C>T (p.Phe16259=)
|
|
|
|
NM_001267550.2(TTN):c.48780C>G (p.Leu16260=)
|
rs754126382
|
|
|
NM_001267550.2(TTN):c.48780C>T (p.Leu16260=)
|
rs754126382
|
|
|
NM_001267550.2(TTN):c.48792C>T (p.Leu16264=)
|
|
|
|
NM_001267550.2(TTN):c.48810A>G (p.Val16270=)
|
|
|
|
NM_001267550.2(TTN):c.48819G>A (p.Gly16273=)
|
|
|
|
NM_001267550.2(TTN):c.48843C>T (p.Thr16281=)
|
rs547682223
|
|
|
NM_001267550.2(TTN):c.48864T>A (p.Pro16288=)
|
rs2154201695
|
|
|
NM_001267550.2(TTN):c.48906C>T (p.Asp16302=)
|
|
|
|
NM_001267550.2(TTN):c.4890G>T (p.Ala1630=)
|
rs752145538
|
|
|
NM_001267550.2(TTN):c.48945A>G (p.Thr16315=)
|
|
|
|
NM_001267550.2(TTN):c.48969A>G (p.Arg16323=)
|
rs2154201674
|
|
|
NM_001267550.2(TTN):c.48978T>C (p.Thr16326=)
|
|
|
|
NM_001267550.2(TTN):c.48978T>G (p.Thr16326=)
|
|
|
|
NM_001267550.2(TTN):c.48G>A (p.Val16=)
|
|
|
|
NM_001267550.2(TTN):c.49026T>G (p.Ala16342=)
|
|
|
|
NM_001267550.2(TTN):c.49038G>A (p.Val16346=)
|
|
|
|
NM_001267550.2(TTN):c.49048+10del
|
|
|
|
NM_001267550.2(TTN):c.49049-11G>A
|
|
|
|
NM_001267550.2(TTN):c.49049-8A>G
|
rs2056900509
|
|
|
NM_001267550.2(TTN):c.49049-8A>T
|
rs2056900509
|
|
|
NM_001267550.2(TTN):c.49056C>T (p.Pro16352=)
|
|
|
|
NM_001267550.2(TTN):c.49059A>G (p.Gly16353=)
|
rs1215673191
|
|
|
NM_001267550.2(TTN):c.49068T>C (p.Ala16356=)
|
rs2154201612
|
|
|
NM_001267550.2(TTN):c.4911C>T (p.Gly1637=)
|
|
|
|
NM_001267550.2(TTN):c.49122A>G (p.Pro16374=)
|
|
|
|
NM_001267550.2(TTN):c.49134T>C (p.Asp16378=)
|
rs2154201598
|
|
|
NM_001267550.2(TTN):c.49140A>T (p.Gly16380=)
|
rs879110855
|
|
|
NM_001267550.2(TTN):c.4914A>G (p.Arg1638=)
|
rs2154346368
|
|
|
NM_001267550.2(TTN):c.49152A>C (p.Thr16384=)
|
rs754272157
|
|
|
NM_001267550.2(TTN):c.49173A>G (p.Arg16391=)
|
|
|
|
NM_001267550.2(TTN):c.49203C>T (p.Leu16401=)
|
|
|
|
NM_001267550.2(TTN):c.49209C>T (p.Ser16403=)
|
rs771429905
|
|
|
NM_001267550.2(TTN):c.49239C>T (p.Thr16413=)
|
rs2056862850
|
|
|
NM_001267550.2(TTN):c.4923A>G (p.Thr1641=)
|
|
|
|
NM_001267550.2(TTN):c.49269C>T (p.Phe16423=)
|
|
|
|
NM_001267550.2(TTN):c.49308A>G (p.Pro16436=)
|
|
|
|
NM_001267550.2(TTN):c.49345+11C>T
|
|
|
|
NM_001267550.2(TTN):c.49345+12A>C
|
|
|
|
NM_001267550.2(TTN):c.49345+18C>T
|
|
|
|
NM_001267550.2(TTN):c.49346-10C>T
|
rs2154201383
|
|
|
NM_001267550.2(TTN):c.49346-11C>G
|
|
|
|
NM_001267550.2(TTN):c.49346-18C>A
|
|
|
|
NM_001267550.2(TTN):c.49350A>T (p.Pro16450=)
|
rs2056813317
|
|
|
NM_001267550.2(TTN):c.49401G>T (p.Val16467=)
|
|
|
|
NM_001267550.2(TTN):c.49410A>G (p.Thr16470=)
|
rs1415252331
|
|
|
NM_001267550.2(TTN):c.49434T>C (p.Gly16478=)
|
rs929454301
|
|
|
NM_001267550.2(TTN):c.49479T>C (p.Asp16493=)
|
rs769296123
|
|
|
NM_001267550.2(TTN):c.49532+10G>T
|
|
|
|
NM_001267550.2(TTN):c.49532+17C>G
|
|
|
|
NM_001267550.2(TTN):c.49532+7T>C
|
rs2154201240
|
|
|
NM_001267550.2(TTN):c.49533-13G>A
|
rs13395942
|
|
|
NM_001267550.2(TTN):c.49533-18A>G
|
rs2154200935
|
|
|
NM_001267550.2(TTN):c.49533-7A>C
|
|
|
|
NM_001267550.2(TTN):c.49575G>A (p.Val16525=)
|
rs886038826
|
|
|
NM_001267550.2(TTN):c.4959G>A (p.Glu1653=)
|
|
|
|
NM_001267550.2(TTN):c.495A>G (p.Glu165=)
|
|
|
|
NM_001267550.2(TTN):c.49617A>G (p.Ser16539=)
|
rs2154200898
|
|
|
NM_001267550.2(TTN):c.49626A>C (p.Pro16542=)
|
|
|
|
NM_001267550.2(TTN):c.49638G>A (p.Lys16546=)
|
|
|
|
NM_001267550.2(TTN):c.49648+11T>C
|
|
|
|
NM_001267550.2(TTN):c.49648+7T>C
|
rs1553700115
|
|
|
NM_001267550.2(TTN):c.49649-4G>A
|
|
|
|
NM_001267550.2(TTN):c.49649-8G>A
|
rs1296561807
|
|
|
NM_001267550.2(TTN):c.49713T>C (p.Asn16571=)
|
|
|
|
NM_001267550.2(TTN):c.4971G>A (p.Glu1657=)
|
|
|
|
NM_001267550.2(TTN):c.49752G>A (p.Glu16584=)
|
rs763652368
|
|
|
NM_001267550.2(TTN):c.49788T>C (p.Asp16596=)
|
|
|
|
NM_001267550.2(TTN):c.49812G>A (p.Gly16604=)
|
rs760032120
|
|
|
NM_001267550.2(TTN):c.49812G>C (p.Gly16604=)
|
|
|
|
NM_001267550.2(TTN):c.49821C>A (p.Thr16607=)
|
|
|
|
NM_001267550.2(TTN):c.49839A>G (p.Pro16613=)
|
|
|
|
NM_001267550.2(TTN):c.49842G>A (p.Gly16614=)
|
|
|
|
NM_001267550.2(TTN):c.49875T>A (p.Val16625=)
|
|
|
|
NM_001267550.2(TTN):c.49875T>C (p.Val16625=)
|
|
|
|
NM_001267550.2(TTN):c.49896G>A (p.Gly16632=)
|
|
|
|
NM_001267550.2(TTN):c.4989A>T (p.Pro1663=)
|
rs756408474
|
|
|
NM_001267550.2(TTN):c.49902T>C (p.Ser16634=)
|
rs2154200651
|
|
|
NM_001267550.2(TTN):c.49905A>G (p.Glu16635=)
|
|
|
|
NM_001267550.2(TTN):c.49911T>C (p.Ser16637=)
|
|
|
|
NM_001267550.2(TTN):c.49926T>C (p.Pro16642=)
|
|
|
|
NM_001267550.2(TTN):c.49945C>T (p.Leu16649=)
|
rs2056584496
|
|
|
NM_001267550.2(TTN):c.49948+11C>G
|
|
|
|
NM_001267550.2(TTN):c.49948+7C>T
|
|
|
|
NM_001267550.2(TTN):c.49949-15T>C
|
rs2154200488
|
|
|
NM_001267550.2(TTN):c.49949-9_49949-7del
|
rs781693390
|
|
|
NM_001267550.2(TTN):c.49953T>C (p.Pro16651=)
|
|
|
|
NM_001267550.2(TTN):c.49968C>T (p.Arg16656=)
|
rs750363367
|
|
|
NM_001267550.2(TTN):c.49980T>C (p.Val16660=)
|
|
|
|
NM_001267550.2(TTN):c.50007C>T (p.Asp16669=)
|
|
|
|
NM_001267550.2(TTN):c.5001T>C (p.Tyr1667=)
|
rs540957547
|
|
|
NM_001267550.2(TTN):c.50028G>A (p.Glu16676=)
|
rs727503621
|
|
|
NM_001267550.2(TTN):c.50040G>T (p.Gly16680=)
|
rs553888905
|
|
|
NM_001267550.2(TTN):c.50046C>A (p.Pro16682=)
|
rs2154200411
|
|
|
NM_001267550.2(TTN):c.50052C>G (p.Thr16684=)
|
|
|
|
NM_001267550.2(TTN):c.50058C>T (p.Tyr16686=)
|
|
|
|
NM_001267550.2(TTN):c.50079C>T (p.Val16693=)
|
rs1576432517
|
|
|
NM_001267550.2(TTN):c.50085A>G (p.Arg16695=)
|
|
|
|
NM_001267550.2(TTN):c.50112T>C (p.Thr16704=)
|
rs1480918075
|
|
|
NM_001267550.2(TTN):c.50124C>T (p.Thr16708=)
|
rs2154200363
|
|
|
NM_001267550.2(TTN):c.50136C>T (p.Val16712=)
|
|
|
|
NM_001267550.2(TTN):c.50151G>A (p.Glu16717=)
|
rs369623681
|
|
|
NM_001267550.2(TTN):c.50158T>C (p.Leu16720=)
|
|
|
|
NM_001267550.2(TTN):c.50169C>T (p.Phe16723=)
|
rs1247167991
|
|
|
NM_001267550.2(TTN):c.5016T>C (p.Ile1672=)
|
|
|
|
NM_001267550.2(TTN):c.50172A>T (p.Arg16724=)
|
|
|
|
NM_001267550.2(TTN):c.5019A>C (p.Ala1673=)
|
|
|
|
NM_001267550.2(TTN):c.50208C>T (p.Tyr16736=)
|
|
|
|
NM_001267550.2(TTN):c.50211C>T (p.Thr16737=)
|
rs577041683
|
|
|
NM_001267550.2(TTN):c.50235C>G (p.Ala16745=)
|
|
|
|
NM_001267550.2(TTN):c.50244C>G (p.Thr16748=)
|
rs778337707
|
|
|
NM_001267550.2(TTN):c.50248+16T>G
|
|
|
|
NM_001267550.2(TTN):c.50248+17A>C
|
rs755904987
|
|
|
NM_001267550.2(TTN):c.50248+19T>C
|
|
|
|
NM_001267550.2(TTN):c.50249-13A>G
|
|
|
|
NM_001267550.2(TTN):c.50249-14T>C
|
|
|
|
NM_001267550.2(TTN):c.50249-15T>G
|
rs727504732
|
|
|
NM_001267550.2(TTN):c.50249-7T>A
|
|
|
|
NM_001267550.2(TTN):c.50249-8_50249-4del
|
|
|
|
NM_001267550.2(TTN):c.50250C>T (p.Thr16750=)
|
|
|
|
NM_001267550.2(TTN):c.50256T>C (p.Pro16752=)
|
rs1576428224
|
|
|
NM_001267550.2(TTN):c.5025A>G (p.Pro1675=)
|
rs971913073
|
|
|
NM_001267550.2(TTN):c.50265C>T (p.Pro16755=)
|
rs2154200169
|
|
|
NM_001267550.2(TTN):c.50307C>T (p.Asp16769=)
|
rs757648293
|
|
|
NM_001267550.2(TTN):c.50322A>C (p.Pro16774=)
|
rs1333231112
|
|
|
NM_001267550.2(TTN):c.50337T>C (p.Gly16779=)
|
rs983630096
|
|
|
NM_001267550.2(TTN):c.50337T>G (p.Gly16779=)
|
rs983630096
|
|
|
NM_001267550.2(TTN):c.50343A>G (p.Arg16781=)
|
rs1308398441
|
|
|
NM_001267550.2(TTN):c.50355-10G>A
|
|
|
|
NM_001267550.2(TTN):c.50355-10_50355-8del
|
|
|
|
NM_001267550.2(TTN):c.50355-14T>C
|
rs754276850
|
|
|
NM_001267550.2(TTN):c.50355-22_50355-18del
|
rs2154200048
|
|
|
NM_001267550.2(TTN):c.50355-5A>G
|
rs1553697218
|
|
|
NM_001267550.2(TTN):c.50355-7dup
|
|
|
|
NM_001267550.2(TTN):c.50355-8T>G
|
|
|
|
NM_001267550.2(TTN):c.50358T>C (p.Tyr16786=)
|
rs72677249
|
|
|
NM_001267550.2(TTN):c.50361C>T (p.Val16787=)
|
|
|
|
NM_001267550.2(TTN):c.50377A>C (p.Arg16793=)
|
rs2154200003
|
|
|
NM_001267550.2(TTN):c.50457A>G (p.Gly16819=)
|
|
|
|
NM_001267550.2(TTN):c.5046G>A (p.Leu1682=)
|
|
|
|
NM_001267550.2(TTN):c.50479C>A (p.Arg16827=)
|
rs727503620
|
|
|
NM_001267550.2(TTN):c.50490T>C (p.Asn16830=)
|
|
|
|
NM_001267550.2(TTN):c.50520C>T (p.Pro16840=)
|
|
|
|
NM_001267550.2(TTN):c.5052T>C (p.Tyr1684=)
|
rs727503694
|
|
|
NM_001267550.2(TTN):c.50535C>G (p.Ser16845=)
|
rs1576423554
|
|
|
NM_001267550.2(TTN):c.50547A>C (p.Pro16849=)
|
|
|
|
NM_001267550.2(TTN):c.50551+12T>G
|
|
|
|
NM_001267550.2(TTN):c.50551+17A>T
|
rs2056368086
|
|
|
NM_001267550.2(TTN):c.50551+8G>A
|
rs201481670
|
|
|
NM_001267550.2(TTN):c.50552-11T>G
|
|
|
|
NM_001267550.2(TTN):c.50552-16T>C
|
|
|
|
NM_001267550.2(TTN):c.50552-17T>G
|
|
|
|
NM_001267550.2(TTN):c.50595G>A (p.Gly16865=)
|
|
|
|
NM_001267550.2(TTN):c.50595G>C (p.Gly16865=)
|
rs759412469
|
|
|
NM_001267550.2(TTN):c.50598A>G (p.Arg16866=)
|
|
|
|
NM_001267550.2(TTN):c.50607T>C (p.Ile16869=)
|
|
|
|
NM_001267550.2(TTN):c.50610C>T (p.Ala16870=)
|
rs908946588
|
|
|
NM_001267550.2(TTN):c.50640T>C (p.Gly16880=)
|
rs2154199840
|
|
|
NM_001267550.2(TTN):c.50679A>C (p.Pro16893=)
|
|
|
|
NM_001267550.2(TTN):c.50728T>C (p.Leu16910=)
|
|
|
|
NM_001267550.2(TTN):c.50784G>A (p.Val16928=)
|
rs746259990
|
|
|
NM_001267550.2(TTN):c.50796T>C (p.Asn16932=)
|
rs2056306843
|
|
|
NM_001267550.2(TTN):c.50805T>C (p.Gly16935=)
|
rs2154199746
|
|
|
NM_001267550.2(TTN):c.50817A>G (p.Pro16939=)
|
|
|
|
NM_001267550.2(TTN):c.50844C>T (p.Ala16948=)
|
rs2154199729
|
|
|
NM_001267550.2(TTN):c.50850C>T (p.Asp16950=)
|
rs200700386
|
|
|
NM_001267550.2(TTN):c.50857+10C>G
|
rs1553695761
|
|
|
NM_001267550.2(TTN):c.50857+15T>A
|
rs772407807
|
|
|
NM_001267550.2(TTN):c.50857+20T>C
|
|
|
|
NM_001267550.2(TTN):c.50857+9dup
|
rs2154199714
|
|
|
NM_001267550.2(TTN):c.50858-8T>A
|
|
|
|
NM_001267550.2(TTN):c.50874C>T (p.Asp16958=)
|
rs2154199603
|
|
|
NM_001267550.2(TTN):c.50895T>C (p.Ile16965=)
|
|
|
|
NM_001267550.2(TTN):c.50898T>C (p.Val16966=)
|
|
|
|
NM_001267550.2(TTN):c.50919C>T (p.Ser16973=)
|
|
|
|
NM_001267550.2(TTN):c.50955T>C (p.Thr16985=)
|
rs2154199554
|
|
|
NM_001267550.2(TTN):c.50985T>G (p.Val16995=)
|
rs2154199535
|
|
|
NM_001267550.2(TTN):c.50997T>C (p.Asp16999=)
|
|
|
|
NM_001267550.2(TTN):c.51001T>C (p.Leu17001=)
|
rs2154199523
|
|
|
NM_001267550.2(TTN):c.51021C>T (p.His17007=)
|
rs2154199510
|
|
|
NM_001267550.2(TTN):c.51024C>A (p.Ile17008=)
|
|
|
|
NM_001267550.2(TTN):c.51060A>G (p.Ala17020=)
|
rs1553694864
|
|
|
NM_001267550.2(TTN):c.51069A>C (p.Gly17023=)
|
|
|
|
NM_001267550.2(TTN):c.51090G>A (p.Glu17030=)
|
rs2154199469
|
|
|
NM_001267550.2(TTN):c.51114C>A (p.Ala17038=)
|
|
|
|
NM_001267550.2(TTN):c.51114C>T (p.Ala17038=)
|
rs2154199447
|
|
|
NM_001267550.2(TTN):c.51123T>C (p.Asn17041=)
|
|
|
|
NM_001267550.2(TTN):c.51126C>G (p.Val17042=)
|
rs2154199438
|
|
|
NM_001267550.2(TTN):c.51136+10_51136+13dup
|
|
|
|
NM_001267550.2(TTN):c.51136+18A>G
|
|
|
|
NM_001267550.2(TTN):c.51136+8T>C
|
rs2154199424
|
|
|
NM_001267550.2(TTN):c.51144T>G (p.Pro17048=)
|
|
|
|
NM_001267550.2(TTN):c.51159T>C (p.Asp17053=)
|
|
|
|
NM_001267550.2(TTN):c.51225T>A (p.Gly17075=)
|
|
|
|
NM_001267550.2(TTN):c.51234A>C (p.Pro17078=)
|
rs1553693459
|
|
|
NM_001267550.2(TTN):c.51243T>C (p.His17081=)
|
|
|
|
NM_001267550.2(TTN):c.51246T>C (p.Tyr17082=)
|
rs2154198955
|
|
|
NM_001267550.2(TTN):c.51273G>A (p.Arg17091=)
|
rs532589236
|
|
|
NM_001267550.2(TTN):c.51285A>T (p.Ile17095=)
|
|
|
|
NM_001267550.2(TTN):c.51288A>C (p.Pro17096=)
|
rs1228172742
|
|
|
NM_001267550.2(TTN):c.51303G>A (p.Glu17101=)
|
|
|
|
NM_001267550.2(TTN):c.51306C>T (p.Asn17102=)
|
|
|
|
NM_001267550.2(TTN):c.51310C>T (p.Leu17104=)
|
rs1060503959
|
|
|
NM_001267550.2(TTN):c.51315A>T (p.Ser17105=)
|
|
|
|
NM_001267550.2(TTN):c.5133C>T (p.Ser1711=)
|
|
|
|
NM_001267550.2(TTN):c.51342T>C (p.Asn17114=)
|
|
|
|
NM_001267550.2(TTN):c.51345T>C (p.Gly17115=)
|
rs2154198924
|
|
|
NM_001267550.2(TTN):c.51351C>T (p.Tyr17117=)
|
|
|
|
NM_001267550.2(TTN):c.51354C>T (p.Phe17118=)
|
|
|
|
NM_001267550.2(TTN):c.51372C>T (p.Val17124=)
|
rs1345551958
|
|
|
NM_001267550.2(TTN):c.513A>G (p.Ser171=)
|
|
|
|
NM_001267550.2(TTN):c.51436+13A>T
|
|
|
|
NM_001267550.2(TTN):c.51436+16G>A
|
|
|
|
NM_001267550.2(TTN):c.51436+19G>A
|
|
|
|
NM_001267550.2(TTN):c.51437-13T>C
|
|
|
|
NM_001267550.2(TTN):c.51437-17T>A
|
rs1013983143
|
|
|
NM_001267550.2(TTN):c.51471T>C (p.His17157=)
|
rs2154198757
|
|
|
NM_001267550.2(TTN):c.51480A>C (p.Thr17160=)
|
rs2154198755
|
|
|
NM_001267550.2(TTN):c.51501A>G (p.Thr17167=)
|
rs2154198745
|
|
|
NM_001267550.2(TTN):c.51570T>G (p.Gly17190=)
|
rs876657607
|
|
|
NM_001267550.2(TTN):c.51591C>T (p.Cys17197=)
|
|
|
|
NM_001267550.2(TTN):c.51633A>G (p.Gly17211=)
|
|
|
|
NM_001267550.2(TTN):c.51645G>A (p.Gly17215=)
|
|
|
|
NM_001267550.2(TTN):c.51663T>C (p.Arg17221=)
|
rs2154198663
|
|
|
NM_001267550.2(TTN):c.51672A>T (p.Ala17224=)
|
|
|
|
NM_001267550.2(TTN):c.51708T>A (p.Ala17236=)
|
|
|
|
NM_001267550.2(TTN):c.51717A>G (p.Pro17239=)
|
rs2154198625
|
|
|
NM_001267550.2(TTN):c.51720C>G (p.Thr17240=)
|
|
|
|
NM_001267550.2(TTN):c.51739+10G>A
|
|
|
|
NM_001267550.2(TTN):c.51739+18G>C
|
|
|
|
NM_001267550.2(TTN):c.51739+9T>A
|
|
|
|
NM_001267550.2(TTN):c.51740-13A>G
|
|
|
|
NM_001267550.2(TTN):c.51740-17G>T
|
rs1271846679
|
|
|
NM_001267550.2(TTN):c.51740-20A>G
|
|
|
|
NM_001267550.2(TTN):c.51740-20A>T
|
|
|
|
NM_001267550.2(TTN):c.51740-4A>G
|
rs774875894
|
|
|
NM_001267550.2(TTN):c.51769C>T (p.Leu17257=)
|
rs1576391726
|
|
|
NM_001267550.2(TTN):c.51789T>C (p.Asp17263=)
|
rs768268605
|
|
|
NM_001267550.2(TTN):c.51798A>C (p.Ala17266=)
|
|
|
|
NM_001267550.2(TTN):c.51822A>G (p.Ser17274=)
|
|
|
|
NM_001267550.2(TTN):c.51840A>T (p.Thr17280=)
|
|
|
|
NM_001267550.2(TTN):c.5184C>A (p.Pro1728=)
|
|
|
|
NM_001267550.2(TTN):c.51870A>G (p.Pro17290=)
|
rs1060503957
|
|
|
NM_001267550.2(TTN):c.51912G>A (p.Arg17304=)
|
rs2154198439
|
|
|
NM_001267550.2(TTN):c.51946C>T (p.Leu17316=)
|
|
|
|
NM_001267550.2(TTN):c.5196A>C (p.Pro1732=)
|
rs142262519
|
|
|
NM_001267550.2(TTN):c.51987G>A (p.Lys17329=)
|
|
|
|
NM_001267550.2(TTN):c.52000C>T (p.Leu17334=)
|
|
|
|
NM_001267550.2(TTN):c.52021C>A (p.Arg17341=)
|
|
|
|
NM_001267550.2(TTN):c.52035T>C (p.Gly17345=)
|
rs2154198349
|
|
|
NM_001267550.2(TTN):c.52041T>C (p.Tyr17347=)
|
rs2154198344
|
|
|
NM_001267550.2(TTN):c.52050A>G (p.Lys17350=)
|
rs1559756831
|
|
|
NM_001267550.2(TTN):c.52065C>T (p.His17355=)
|
|
|
|
NM_001267550.2(TTN):c.52068T>C (p.Gly17356=)
|
|
|
|
NM_001267550.2(TTN):c.52080T>A (p.Ala17360=)
|
rs2154198311
|
|
|
NM_001267550.2(TTN):c.52083T>A (p.Pro17361=)
|
|
|
|
NM_001267550.2(TTN):c.52086T>C (p.Cys17362=)
|
rs1057523625
|
|
|
NM_001267550.2(TTN):c.52102+16T>C
|
|
|
|
NM_001267550.2(TTN):c.52102+7C>T
|
|
|
|
NM_001267550.2(TTN):c.52102+8A>G
|
|
|
|
NM_001267550.2(TTN):c.52103-12C>G
|
|
|
|
NM_001267550.2(TTN):c.52103-20G>A
|
|
|
|
NM_001267550.2(TTN):c.52103-31_52103-18del
|
rs778561939
|
|
|
NM_001267550.2(TTN):c.52113A>C (p.Gly17371=)
|
|
|
|
NM_001267550.2(TTN):c.52128T>C (p.Phe17376=)
|
|
|
|
NM_001267550.2(TTN):c.52152C>T (p.Thr17384=)
|
rs1004455055
|
|
|
NM_001267550.2(TTN):c.52161T>C (p.Leu17387=)
|
|
|
|
NM_001267550.2(TTN):c.52216T>C (p.Leu17406=)
|
rs1576379924
|
|
|
NM_001267550.2(TTN):c.5223T>C (p.Asp1741=)
|
rs1035862701
|
|
|
NM_001267550.2(TTN):c.52242C>G (p.Pro17414=)
|
|
|
|
NM_001267550.2(TTN):c.52251A>G (p.Glu17417=)
|
rs1576379164
|
|
|
NM_001267550.2(TTN):c.5226A>G (p.Gly1742=)
|
rs2154346236
|
|
|
NM_001267550.2(TTN):c.52290T>C (p.Tyr17430=)
|
rs990974705
|
|
|
NM_001267550.2(TTN):c.52302A>G (p.Lys17434=)
|
|
|
|
NM_001267550.2(TTN):c.52326C>T (p.Leu17442=)
|
|
|
|
NM_001267550.2(TTN):c.52332T>G (p.Arg17444=)
|
|
|
|
NM_001267550.2(TTN):c.52335A>G (p.Val17445=)
|
|
|
|
NM_001267550.2(TTN):c.5235T>G (p.Leu1745=)
|
|
|
|
NM_001267550.2(TTN):c.5238A>G (p.Glu1746=)
|
rs1054040157
|
|
|
NM_001267550.2(TTN):c.52405+10C>G
|
rs369447385
|
|
|
NM_001267550.2(TTN):c.52405+14G>A
|
|
|
|
NM_001267550.2(TTN):c.52405+19C>G
|
rs1553689081
|
|
|
NM_001267550.2(TTN):c.52406-11T>A
|
|
|
|
NM_001267550.2(TTN):c.52406-16_52406-14dup
|
rs756874338
|
|
|
NM_001267550.2(TTN):c.52406-18A>G
|
|
|
|
NM_001267550.2(TTN):c.52406-20A>C
|
|
|
|
NM_001267550.2(TTN):c.52406-5A>G
|
|
|
|
NM_001267550.2(TTN):c.52406-6T>A
|
rs727504767
|
|
|
NM_001267550.2(TTN):c.52406-8_52406-6del
|
|
|
|
NM_001267550.2(TTN):c.52410A>G (p.Pro17470=)
|
|
|
|
NM_001267550.2(TTN):c.52413T>A (p.Pro17471=)
|
rs767409447
|
|
|
NM_001267550.2(TTN):c.52413T>G (p.Pro17471=)
|
|
|
|
NM_001267550.2(TTN):c.52434T>C (p.Ile17478=)
|
rs554368924
|
|
|
NM_001267550.2(TTN):c.52462C>T (p.Leu17488=)
|
rs2154197612
|
|
|
NM_001267550.2(TTN):c.52504T>C (p.Leu17502=)
|
rs2154197574
|
|
|
NM_001267550.2(TTN):c.52509T>G (p.Gly17503=)
|
|
|
|
NM_001267550.2(TTN):c.52518T>G (p.Leu17506=)
|
|
|
|
NM_001267550.2(TTN):c.52521A>G (p.Glu17507=)
|
|
|
|
NM_001267550.2(TTN):c.52536C>T (p.Asn17512=)
|
rs199615557
|
|
|
NM_001267550.2(TTN):c.52545T>C (p.His17515=)
|
rs766537771
|
|
|
NM_001267550.2(TTN):c.52569T>A (p.Leu17523=)
|
|
|
|
NM_001267550.2(TTN):c.5256T>A (p.Arg1752=)
|
rs2154346223
|
|
|
NM_001267550.2(TTN):c.52590T>C (p.Asn17530=)
|
rs777245474
|
|
|
NM_001267550.2(TTN):c.52620T>C (p.Tyr17540=)
|
|
|
|
NM_001267550.2(TTN):c.5262C>A (p.Ile1754=)
|
|
|
|
NM_001267550.2(TTN):c.52632A>G (p.Val17544=)
|
|
|
|
NM_001267550.2(TTN):c.52656T>A (p.Pro17552=)
|
rs371031259
|
|
|
NM_001267550.2(TTN):c.52668T>C (p.Ser17556=)
|
rs2154197457
|
|
|
NM_001267550.2(TTN):c.52671A>G (p.Pro17557=)
|
rs377063235
|
|
|
NM_001267550.2(TTN):c.52671A>T (p.Pro17557=)
|
rs377063235
|
|
|
NM_001267550.2(TTN):c.52683C>T (p.Pro17561=)
|
|
|
|
NM_001267550.2(TTN):c.52705+15A>C
|
|
|
|
NM_001267550.2(TTN):c.52705+20G>A
|
|
|
|
NM_001267550.2(TTN):c.52706-11A>G
|
|
|
|
NM_001267550.2(TTN):c.52746C>T (p.Ser17582=)
|
rs761374387
|
|
|
NM_001267550.2(TTN):c.5274G>A (p.Gly1758=)
|
|
|
|
NM_001267550.2(TTN):c.5277C>T (p.Tyr1759=)
|
|
|
|
NM_001267550.2(TTN):c.52803T>C (p.Ile17601=)
|
|
|
|
NM_001267550.2(TTN):c.52818T>C (p.Val17606=)
|
|
|
|
NM_001267550.2(TTN):c.52833T>C (p.Val17611=)
|
rs2154197266
|
|
|
NM_001267550.2(TTN):c.52842T>C (p.Asn17614=)
|
rs2154197264
|
|
|
NM_001267550.2(TTN):c.52878C>A (p.Val17626=)
|
rs775005179
|
|
|
NM_001267550.2(TTN):c.52878C>T (p.Val17626=)
|
rs775005179
|
|
|
NM_001267550.2(TTN):c.52881T>C (p.Arg17627=)
|
rs772763911
|
|
|
NM_001267550.2(TTN):c.5289T>C (p.Asp1763=)
|
|
|
|
NM_001267550.2(TTN):c.5292T>C (p.Tyr1764=)
|
rs2154346214
|
|
|
NM_001267550.2(TTN):c.52947C>G (p.Ala17649=)
|
rs766991039
|
|
|
NM_001267550.2(TTN):c.5295C>A (p.Gly1765=)
|
rs145999395
|
|
|
NM_001267550.2(TTN):c.52965T>C (p.Pro17655=)
|
|
|
|
NM_001267550.2(TTN):c.52989G>A (p.Val17663=)
|
|
|
|
NM_001267550.2(TTN):c.53002+10G>T
|
rs370352450
|
|
|
NM_001267550.2(TTN):c.53002+13A>G
|
|
|
|
NM_001267550.2(TTN):c.53002+18A>G
|
|
|
|
NM_001267550.2(TTN):c.53002+9C>A
|
rs374671774
|
|
|
NM_001267550.2(TTN):c.53003-12C>A
|
|
|
|
NM_001267550.2(TTN):c.53003-15G>C
|
|
|
|
NM_001267550.2(TTN):c.53003-6C>T
|
|
|
|
NM_001267550.2(TTN):c.53003-7T>C
|
rs2055231136
|
|
|
NM_001267550.2(TTN):c.53004G>A (p.Glu17668=)
|
|
|
|
NM_001267550.2(TTN):c.53020C>T (p.Leu17674=)
|
|
|
|
NM_001267550.2(TTN):c.53094T>A (p.Gly17698=)
|
|
|
|
NM_001267550.2(TTN):c.53100T>C (p.Pro17700=)
|
rs373140387
|
|
|
NM_001267550.2(TTN):c.53109A>G (p.Thr17703=)
|
rs2154197018
|
|
|
NM_001267550.2(TTN):c.53121C>G (p.Thr17707=)
|
|
|
|
NM_001267550.2(TTN):c.53139G>A (p.Leu17713=)
|
|
|
|
NM_001267550.2(TTN):c.53148C>T (p.Asp17716=)
|
rs2055191623
|
|
|
NM_001267550.2(TTN):c.53151T>G (p.Arg17717=)
|
|
|
|
NM_001267550.2(TTN):c.53156T>C (p.Val17719Ala)
|
rs564121832
|
|
|
NM_001267550.2(TTN):c.5316T>C (p.Ser1772=)
|
rs2154346206
|
|
|
NM_001267550.2(TTN):c.53185C>T (p.Leu17729=)
|
rs767559716
|
|
|
NM_001267550.2(TTN):c.53206C>A (p.Arg17736=)
|
rs571702144
|
|
|
NM_001267550.2(TTN):c.53217T>C (p.His17739=)
|
|
|
|
NM_001267550.2(TTN):c.53229G>T (p.Val17743=)
|
rs376469717
|
|
|
NM_001267550.2(TTN):c.5325T>C (p.Ile1775=)
|
|
|
|
NM_001267550.2(TTN):c.53280A>G (p.Glu17760=)
|
|
|
|
NM_001267550.2(TTN):c.53287+10G>A
|
|
|
|
NM_001267550.2(TTN):c.53287+14C>T
|
|
|
|
NM_001267550.2(TTN):c.53288-13G>A
|
rs762229186
|
|
|
NM_001267550.2(TTN):c.53292C>T (p.Val17764=)
|
rs1060503942
|
|
|
NM_001267550.2(TTN):c.53301A>T (p.Pro17767=)
|
rs2154196840
|
|
|
NM_001267550.2(TTN):c.53328A>G (p.Thr17776=)
|
rs1576360008
|
|
|
NM_001267550.2(TTN):c.53346A>G (p.Leu17782=)
|
rs1434853063
|
|
|
NM_001267550.2(TTN):c.53382T>C (p.Ser17794=)
|
|
|
|
NM_001267550.2(TTN):c.53442A>G (p.Pro17814=)
|
|
|
|
NM_001267550.2(TTN):c.53451T>C (p.Thr17817=)
|
|
|
|
NM_001267550.2(TTN):c.53454G>A (p.Glu17818=)
|
|
|
|
NM_001267550.2(TTN):c.53478T>C (p.Gly17826=)
|
rs1437694138
|
|
|
NM_001267550.2(TTN):c.53508T>C (p.Arg17836=)
|
|
|
|
NM_001267550.2(TTN):c.53538C>G (p.Gly17846=)
|
|
|
|
NM_001267550.2(TTN):c.53538C>T (p.Gly17846=)
|
rs768490325
|
|
|
NM_001267550.2(TTN):c.53574T>C (p.Asp17858=)
|
|
|
|
NM_001267550.2(TTN):c.53581+10_53581+12del
|
|
|
|
NM_001267550.2(TTN):c.53581+13G>T
|
|
|
|
NM_001267550.2(TTN):c.53582-10C>G
|
|
|
|
NM_001267550.2(TTN):c.53582-10C>T
|
|
|
|
NM_001267550.2(TTN):c.53582-11T>G
|
|
|
|
NM_001267550.2(TTN):c.53582-12C>G
|
|
|
|
NM_001267550.2(TTN):c.53582-7G>T
|
rs2154195721
|
|
|
NM_001267550.2(TTN):c.53582-8G>C
|
rs2154195723
|
|
|
NM_001267550.2(TTN):c.53595T>G (p.Ser17865=)
|
rs2154195702
|
|
|
NM_001267550.2(TTN):c.53601G>A (p.Glu17867=)
|
|
|
|
NM_001267550.2(TTN):c.53607C>T (p.Leu17869=)
|
|
|
|
NM_001267550.2(TTN):c.5361C>T (p.His1787=)
|
|
|
|
NM_001267550.2(TTN):c.53655G>A (p.Glu17885=)
|
|
|
|
NM_001267550.2(TTN):c.53706G>T (p.Arg17902=)
|
rs1576340244
|
|
|
NM_001267550.2(TTN):c.53743C>A (p.Arg17915=)
|
|
|
|
NM_001267550.2(TTN):c.53751C>T (p.Cys17917=)
|
rs2154195623
|
|
|
NM_001267550.2(TTN):c.53808T>C (p.Arg17936=)
|
|
|
|
NM_001267550.2(TTN):c.53811C>T (p.Val17937=)
|
|
|
|
NM_001267550.2(TTN):c.53850A>C (p.Leu17950=)
|
rs1334197703
|
|
|
NM_001267550.2(TTN):c.53874T>C (p.Asp17958=)
|
rs2154195564
|
|
|
NM_001267550.2(TTN):c.53881+10C>A
|
|
|
|
NM_001267550.2(TTN):c.53881+15T>A
|
rs1473876344
|
|
|
NM_001267550.2(TTN):c.53881+19A>G
|
|
|
|
NM_001267550.2(TTN):c.53882-13C>G
|
rs2154195469
|
|
|
NM_001267550.2(TTN):c.53882-4G>A
|
|
|
|
NM_001267550.2(TTN):c.53886T>A (p.Pro17962=)
|
|
|
|
NM_001267550.2(TTN):c.53898G>A (p.Lys17966=)
|
|
|
|
NM_001267550.2(TTN):c.53961T>G (p.Pro17987=)
|
rs1279496154
|
|
|
NM_001267550.2(TTN):c.53976C>G (p.Gly17992=)
|
rs1553682339
|
|
|
NM_001267550.2(TTN):c.53979T>C (p.Leu17993=)
|
rs2154195417
|
|
|
NM_001267550.2(TTN):c.53988T>C (p.Pro17996=)
|
rs568556021
|
|
|
NM_001267550.2(TTN):c.54003C>G (p.Ser18001=)
|
|
|
|
NM_001267550.2(TTN):c.5400T>G (p.Leu1800=)
|
rs2154346164
|
|
|
NM_001267550.2(TTN):c.54033T>C (p.Thr18011=)
|
rs750248363
|
|
|
NM_001267550.2(TTN):c.54037G>T (p.Ala18013Ser)
|
rs531242797
|
|
|
NM_001267550.2(TTN):c.54084T>C (p.Thr18028=)
|
|
|
|
NM_001267550.2(TTN):c.540T>C (p.Asn180=)
|
|
|
|
NM_001267550.2(TTN):c.54135T>C (p.Val18045=)
|
|
|
|
NM_001267550.2(TTN):c.54153T>C (p.Leu18051=)
|
rs2154195340
|
|
|
NM_001267550.2(TTN):c.54156C>T (p.Gly18052=)
|
rs2154195335
|
|
|
NM_001267550.2(TTN):c.5415A>G (p.Gln1805=)
|
rs943308158
|
|
|
NM_001267550.2(TTN):c.54186A>C (p.Val18062=)
|
rs2154195308
|
|
|
NM_001267550.2(TTN):c.54190+7G>A
|
rs2054437690
|
|
|
NM_001267550.2(TTN):c.54191-12A>C
|
|
|
|
NM_001267550.2(TTN):c.54191-14T>C
|
|
|
|
NM_001267550.2(TTN):c.54191-20C>T
|
|
|
|
NM_001267550.2(TTN):c.54191-8C>A
|
rs1181939066
|
|
|
NM_001267550.2(TTN):c.54198A>G (p.Pro18066=)
|
rs2154195238
|
|
|
NM_001267550.2(TTN):c.54207A>T (p.Pro18069=)
|
rs372686070
|
|
|
NM_001267550.2(TTN):c.54219T>A (p.Ala18073=)
|
rs2154195226
|
|
|
NM_001267550.2(TTN):c.54279T>C (p.Gly18093=)
|
|
|
|
NM_001267550.2(TTN):c.54294C>T (p.Thr18098=)
|
|
|
|
NM_001267550.2(TTN):c.54300T>C (p.Tyr18100=)
|
|
|
|
NM_001267550.2(TTN):c.54303T>C (p.Val18101=)
|
|
|
|
NM_001267550.2(TTN):c.54306T>C (p.Ile18102=)
|
|
|
|
NM_001267550.2(TTN):c.54321A>T (p.Ala18107=)
|
rs368021072
|
|
|
NM_001267550.2(TTN):c.54327G>A (p.Arg18109=)
|
|
|
|
NM_001267550.2(TTN):c.54333A>G (p.Lys18111=)
|
|
|
|
NM_001267550.2(TTN):c.54336A>C (p.Ala18112=)
|
|
|
|
NM_001267550.2(TTN):c.54357C>T (p.Asn18119=)
|
|
|
|
NM_001267550.2(TTN):c.54363T>C (p.Ala18121=)
|
|
|
|
NM_001267550.2(TTN):c.54382-19C>T
|
|
|
|
NM_001267550.2(TTN):c.54382-19_54382-18del
|
rs1281145051
|
|
|
NM_001267550.2(TTN):c.54382-9A>G
|
rs773903814
|
|
|
NM_001267550.2(TTN):c.54393T>C (p.Leu18131=)
|
|
|
|
NM_001267550.2(TTN):c.5442G>A (p.Gln1814=)
|
|
|
|
NM_001267550.2(TTN):c.54441T>C (p.Tyr18147=)
|
|
|
|
NM_001267550.2(TTN):c.54456G>A (p.Glu18152=)
|
rs2154194793
|
|
|
NM_001267550.2(TTN):c.54474A>G (p.Val18158=)
|
rs2154194788
|
|
|
NM_001267550.2(TTN):c.54483A>G (p.Gln18161=)
|
rs1559711872
|
|
|
NM_001267550.2(TTN):c.54489T>G (p.Pro18163=)
|
rs1010205941
|
|
|
NM_001267550.2(TTN):c.54507T>A (p.Pro18169=)
|
|
|
|
NM_001267550.2(TTN):c.54510A>G (p.Pro18170=)
|
rs2154194765
|
|
|
NM_001267550.2(TTN):c.54543A>G (p.Gly18181=)
|
rs2054191218
|
|
|
NM_001267550.2(TTN):c.54579T>C (p.Asn18193=)
|
|
|
|
NM_001267550.2(TTN):c.54594T>C (p.Ile18198=)
|
|
|
|
NM_001267550.2(TTN):c.54621A>G (p.Glu18207=)
|
|
|
|
NM_001267550.2(TTN):c.54624G>A (p.Glu18208=)
|
|
|
|
NM_001267550.2(TTN):c.54636T>C (p.Tyr18212=)
|
rs397517620
|
|
|
NM_001267550.2(TTN):c.54642A>T (p.Ser18214=)
|
|
|
|
NM_001267550.2(TTN):c.54648T>G (p.Val18216=)
|
rs2054164428
|
|
|
NM_001267550.2(TTN):c.54672G>A (p.Val18224=)
|
rs2154194671
|
|
|
NM_001267550.2(TTN):c.54678G>A (p.Leu18226=)
|
|
|
|
NM_001267550.2(TTN):c.54696T>C (p.Asn18232=)
|
rs1576320031
|
|
|
NM_001267550.2(TTN):c.546T>C (p.Val182=)
|
|
|
|
NM_001267550.2(TTN):c.54717C>G (p.Gly18239=)
|
rs368468642
|
|
|
NM_001267550.2(TTN):c.54717C>T (p.Gly18239=)
|
|
|
|
NM_001267550.2(TTN):c.5472T>C (p.His1824=)
|
|
|
|
NM_001267550.2(TTN):c.54792G>A (p.Glu18264=)
|
|
|
|
NM_001267550.2(TTN):c.54811+14C>T
|
|
|
|
NM_001267550.2(TTN):c.54811+8_54811+14del
|
rs2154194593
|
|
|
NM_001267550.2(TTN):c.54812-14del
|
rs770542364
|
|
|
NM_001267550.2(TTN):c.54812-18T>C
|
rs561458732
|
|
|
NM_001267550.2(TTN):c.54840A>G (p.Glu18280=)
|
rs2154193674
|
|
|
NM_001267550.2(TTN):c.54849T>C (p.Asp18283=)
|
|
|
|
NM_001267550.2(TTN):c.54888A>G (p.Pro18296=)
|
rs1416503595
|
|
|
NM_001267550.2(TTN):c.54906C>T (p.Ser18302=)
|
rs1022932906
|
|
|
NM_001267550.2(TTN):c.54909A>T (p.Pro18303=)
|
|
|
|
NM_001267550.2(TTN):c.54921C>T (p.Tyr18307=)
|
|
|
|
NM_001267550.2(TTN):c.54939A>G (p.Glu18313=)
|
|
|
|
NM_001267550.2(TTN):c.54993C>T (p.Thr18331=)
|
rs1356072895
|
|
|
NM_001267550.2(TTN):c.55023G>A (p.Glu18341=)
|
rs2154193583
|
|
|
NM_001267550.2(TTN):c.55027A>C (p.Arg18343=)
|
|
|
|
NM_001267550.2(TTN):c.55062A>G (p.Glu18354=)
|
rs2154193559
|
|
|
NM_001267550.2(TTN):c.55080A>C (p.Pro18360=)
|
rs2154193552
|
|
|
NM_001267550.2(TTN):c.55089A>G (p.Thr18363=)
|
rs2154193546
|
|
|
NM_001267550.2(TTN):c.55107C>T (p.Ala18369=)
|
rs1316618431
|
|
|
NM_001267550.2(TTN):c.55120+14C>A
|
|
|
|
NM_001267550.2(TTN):c.55120+14C>G
|
rs1327469041
|
|
|
NM_001267550.2(TTN):c.55120+17A>G
|
|
|
|
NM_001267550.2(TTN):c.55121-9G>A
|
|
|
|
NM_001267550.2(TTN):c.55155G>A (p.Gln18385=)
|
rs2053613119
|
|
|
NM_001267550.2(TTN):c.55203C>T (p.Val18401=)
|
|
|
|
NM_001267550.2(TTN):c.5520G>A (p.Lys1840=)
|
rs899577858
|
|
|
NM_001267550.2(TTN):c.55215C>A (p.Arg18405=)
|
|
|
|
NM_001267550.2(TTN):c.55239A>G (p.Glu18413=)
|
rs2053598732
|
|
|
NM_001267550.2(TTN):c.55245T>C (p.Asp18415=)
|
rs2053598248
|
|
|
NM_001267550.2(TTN):c.55269+13C>A
|
|
|
|
NM_001267550.2(TTN):c.55269+16T>C
|
rs2154193334
|
|
|
NM_001267550.2(TTN):c.55269+9A>T
|
rs2154193342
|
|
|
NM_001267550.2(TTN):c.55270-10T>C
|
|
|
|
NM_001267550.2(TTN):c.55270-12C>A
|
|
|
|
NM_001267550.2(TTN):c.55270-20A>C
|
|
|
|
NM_001267550.2(TTN):c.55270-8T>C
|
rs770659997
|
|
|
NM_001267550.2(TTN):c.55275A>C (p.Gly18425=)
|
|
|
|
NM_001267550.2(TTN):c.55284C>T (p.Asp18428=)
|
rs1343753783
|
|
|
NM_001267550.2(TTN):c.55296T>C (p.Asp18432=)
|
|
|
|
NM_001267550.2(TTN):c.55299A>G (p.Ala18433=)
|
|
|
|
NM_001267550.2(TTN):c.5529T>C (p.Ile1843=)
|
|
|
|
NM_001267550.2(TTN):c.55303-16T>C
|
|
|
|
NM_001267550.2(TTN):c.55303-5T>C
|
|
|
|
NM_001267550.2(TTN):c.55303-6G>T
|
|
|
|
NM_001267550.2(TTN):c.55314T>C (p.Ala18438=)
|
rs997011257
|
|
|
NM_001267550.2(TTN):c.55314T>G (p.Ala18438=)
|
rs997011257
|
|
|
NM_001267550.2(TTN):c.55392A>G (p.Lys18464=)
|
|
|
|
NM_001267550.2(TTN):c.55398A>G (p.Gly18466=)
|
rs2154193078
|
|
|
NM_001267550.2(TTN):c.55432+10A>G
|
rs751062759
|
|
|
NM_001267550.2(TTN):c.55432+14T>A
|
|
|
|
NM_001267550.2(TTN):c.55432+15G>T
|
|
|
|
NM_001267550.2(TTN):c.55433-16G>T
|
rs2154192999
|
|
|
NM_001267550.2(TTN):c.55433-20T>C
|
|
|
|
NM_001267550.2(TTN):c.55446A>G (p.Pro18482=)
|
|
|
|
NM_001267550.2(TTN):c.55449C>G (p.Pro18483=)
|
rs187366691
|
|
|
NM_001267550.2(TTN):c.5544G>A (p.Glu1848=)
|
|
|
|
NM_001267550.2(TTN):c.55452A>G (p.Lys18484=)
|
rs551509361
|
|
|
NM_001267550.2(TTN):c.55455T>C (p.Asp18485=)
|
|
|
|
NM_001267550.2(TTN):c.55464C>T (p.Val18488=)
|
|
|
|
NM_001267550.2(TTN):c.55497A>G (p.Ser18499=)
|
rs2154192958
|
|
|
NM_001267550.2(TTN):c.55548T>C (p.Ile18516=)
|
rs1248936680
|
|
|
NM_001267550.2(TTN):c.55555A>C (p.Arg18519=)
|
rs879182051
|
|
|
NM_001267550.2(TTN):c.55572A>G (p.Lys18524=)
|
rs2154192905
|
|
|
NM_001267550.2(TTN):c.55575C>G (p.Ala18525=)
|
rs774547565
|
|
|
NM_001267550.2(TTN):c.555T>C (p.Ala185=)
|
|
|
|
NM_001267550.2(TTN):c.55620G>A (p.Val18540=)
|
|
|
|
NM_001267550.2(TTN):c.55656T>C (p.Arg18552=)
|
rs2154192845
|
|
|
NM_001267550.2(TTN):c.5565G>A (p.Gly1855=)
|
rs2154346095
|
|
|
NM_001267550.2(TTN):c.55719C>T (p.Ala18573=)
|
|
|
|
NM_001267550.2(TTN):c.55728G>A (p.Pro18576=)
|
rs727504598
|
|
|
NM_001267550.2(TTN):c.55728G>T (p.Pro18576=)
|
|
|
|
NM_001267550.2(TTN):c.55732+17A>C
|
|
|
|
NM_001267550.2(TTN):c.55732+9T>G
|
|
|
|
NM_001267550.2(TTN):c.55733-10A>G
|
rs2053334489
|
|
|
NM_001267550.2(TTN):c.55733-13A>C
|
|
|
|
NM_001267550.2(TTN):c.55733-13_55733-10del
|
|
|
|
NM_001267550.2(TTN):c.55733-18_55733-15del
|
|
|
|
NM_001267550.2(TTN):c.55734T>C (p.Tyr18578=)
|
rs2154192691
|
|
|
NM_001267550.2(TTN):c.5574A>G (p.Ala1858=)
|
|
|
|
NM_001267550.2(TTN):c.55758C>T (p.Leu18586=)
|
|
|
|
NM_001267550.2(TTN):c.55761G>A (p.Lys18587=)
|
rs1576281379
|
|
|
NM_001267550.2(TTN):c.5577G>A (p.Arg1859=)
|
rs551538420
|
|
|
NM_001267550.2(TTN):c.55782C>T (p.Asn18594=)
|
|
|
|
NM_001267550.2(TTN):c.55788G>A (p.Val18596=)
|
rs769822399
|
|
|
NM_001267550.2(TTN):c.55791T>C (p.His18597=)
|
rs879162731
|
|
|
NM_001267550.2(TTN):c.55806C>A (p.Pro18602=)
|
rs751325503
|
|
|
NM_001267550.2(TTN):c.55812G>A (p.Lys18604=)
|
|
|
|
NM_001267550.2(TTN):c.55821G>T (p.Gly18607=)
|
rs2053309288
|
|
|
NM_001267550.2(TTN):c.55836C>G (p.Thr18612=)
|
rs1576280468
|
|
|
NM_001267550.2(TTN):c.55851G>A (p.Glu18617=)
|
|
|
|
NM_001267550.2(TTN):c.55860A>G (p.Ala18620=)
|
rs1576280173
|
|
|
NM_001267550.2(TTN):c.55866C>T (p.Asp18622=)
|
|
|
|
NM_001267550.2(TTN):c.55902C>T (p.Cys18634=)
|
|
|
|
NM_001267550.2(TTN):c.55935T>C (p.Thr18645=)
|
rs1466922998
|
|
|
NM_001267550.2(TTN):c.55938T>C (p.Val18646=)
|
|
|
|
NM_001267550.2(TTN):c.55950A>G (p.Val18650=)
|
|
|
|
NM_001267550.2(TTN):c.55953G>A (p.Glu18651=)
|
rs2154192533
|
|
|
NM_001267550.2(TTN):c.5595A>G (p.Thr1865=)
|
|
|
|
NM_001267550.2(TTN):c.55992T>C (p.Ala18664=)
|
rs377441727
|
|
|
NM_001267550.2(TTN):c.55992T>G (p.Ala18664=)
|
rs377441727
|
|
|
NM_001267550.2(TTN):c.55998A>C (p.Gly18666=)
|
rs2154192488
|
|
|
NM_001267550.2(TTN):c.56031G>T (p.Val18677=)
|
|
|
|
NM_001267550.2(TTN):c.56034T>A (p.Thr18678=)
|
|
|
|
NM_001267550.2(TTN):c.56043C>T (p.Asp18681=)
|
rs2053230533
|
|
|
NM_001267550.2(TTN):c.56050+11A>G
|
|
|
|
NM_001267550.2(TTN):c.56050+13G>A
|
|
|
|
NM_001267550.2(TTN):c.56050+14T>A
|
rs2154192444
|
|
|
NM_001267550.2(TTN):c.56050+16C>T
|
|
|
|
NM_001267550.2(TTN):c.56050+20_56050+21inv
|
|
|
|
NM_001267550.2(TTN):c.56050+7A>G
|
rs2154192455
|
|
|
NM_001267550.2(TTN):c.56050+9C>T
|
rs1190896210
|
|
|
NM_001267550.2(TTN):c.56051-10A>T
|
|
|
|
NM_001267550.2(TTN):c.56051-16T>A
|
|
|
|
NM_001267550.2(TTN):c.56051-17T>C
|
|
|
|
NM_001267550.2(TTN):c.56051-19C>T
|
|
|
|
NM_001267550.2(TTN):c.56051-6_56051-2del
|
rs2154191549
|
|
|
NM_001267550.2(TTN):c.56051-7_56051-5del
|
rs774966673
|
|
|
NM_001267550.2(TTN):c.56051-8T>C
|
|
|
|
NM_001267550.2(TTN):c.56094A>G (p.Glu18698=)
|
|
|
|
NM_001267550.2(TTN):c.56118C>T (p.Ala18706=)
|
rs1559671858
|
|
|
NM_001267550.2(TTN):c.56121A>G (p.Lys18707=)
|
|
|
|
NM_001267550.2(TTN):c.56184C>T (p.Asn18728=)
|
|
|
|
NM_001267550.2(TTN):c.56190A>G (p.Glu18730=)
|
rs2154191450
|
|
|
NM_001267550.2(TTN):c.561G>T (p.Ser187=)
|
rs141444282
|
|
|
NM_001267550.2(TTN):c.56208C>T (p.Thr18736=)
|
|
|
|
NM_001267550.2(TTN):c.56214C>A (p.Val18738=)
|
rs2154191432
|
|
|
NM_001267550.2(TTN):c.56223G>C (p.Leu18741=)
|
|
|
|
NM_001267550.2(TTN):c.56232T>C (p.Asp18744=)
|
rs1404608401
|
|
|
NM_001267550.2(TTN):c.56238T>C (p.Thr18746=)
|
rs2154191418
|
|
|
NM_001267550.2(TTN):c.56259G>A (p.Gln18753=)
|
|
|
|
NM_001267550.2(TTN):c.56268G>A (p.Arg18756=)
|
|
|
|
NM_001267550.2(TTN):c.56319A>T (p.Ala18773=)
|
rs377569886
|
|
|
NM_001267550.2(TTN):c.5631T>C (p.Asn1877=)
|
|
|
|
NM_001267550.2(TTN):c.56343C>T (p.Val18781=)
|
rs2052719748
|
|
|
NM_001267550.2(TTN):c.56347+12A>G
|
|
|
|
NM_001267550.2(TTN):c.56347+15G>A
|
rs373557586
|
|
|
NM_001267550.2(TTN):c.56347+20G>A
|
|
|
|
NM_001267550.2(TTN):c.56348-19C>T
|
|
|
|
NM_001267550.2(TTN):c.56348-7A>G
|
rs2154191302
|
|
|
NM_001267550.2(TTN):c.56355T>C (p.Pro18785=)
|
rs2154191292
|
|
|
NM_001267550.2(TTN):c.56364A>C (p.Pro18788=)
|
rs2154191288
|
|
|
NM_001267550.2(TTN):c.56394A>C (p.Ser18798=)
|
rs2154191262
|
|
|
NM_001267550.2(TTN):c.5640C>T (p.Leu1880=)
|
|
|
|
NM_001267550.2(TTN):c.56410C>T (p.Leu18804=)
|
rs2154191248
|
|
|
NM_001267550.2(TTN):c.56412A>G (p.Leu18804=)
|
rs2154191246
|
|
|
NM_001267550.2(TTN):c.56436T>C (p.Asp18812=)
|
rs2052662873
|
|
|
NM_001267550.2(TTN):c.56439T>C (p.Gly18813=)
|
|
|
|
NM_001267550.2(TTN):c.56460T>C (p.Tyr18820=)
|
|
|
|
NM_001267550.2(TTN):c.56469G>A (p.Glu18823=)
|
|
|
|
NM_001267550.2(TTN):c.564T>C (p.Thr188=)
|
rs1487077494
|
|
|
NM_001267550.2(TTN):c.56583C>G (p.Ala18861=)
|
|
|
|
NM_001267550.2(TTN):c.56595T>C (p.Tyr18865=)
|
rs886055261
|
|
|
NM_001267550.2(TTN):c.56610T>C (p.Pro18870=)
|
|
|
|
NM_001267550.2(TTN):c.56625T>C (p.Pro18875=)
|
rs2154191131
|
|
|
NM_001267550.2(TTN):c.56631A>G (p.Thr18877=)
|
rs955370014
|
|
|
NM_001267550.2(TTN):c.56640C>T (p.Asn18880=)
|
rs200544272
|
|
|
NM_001267550.2(TTN):c.56647+15dup
|
|
|
|
NM_001267550.2(TTN):c.56647+7A>G
|
|
|
|
NM_001267550.2(TTN):c.56647+9_56647+11del
|
|
|
|
NM_001267550.2(TTN):c.56648-14_56648-12del
|
|
|
|
NM_001267550.2(TTN):c.56648-7T>C
|
rs2154191016
|
|
|
NM_001267550.2(TTN):c.56670A>G (p.Lys18890=)
|
rs1559663225
|
|
|
NM_001267550.2(TTN):c.56685C>T (p.Ser18895=)
|
rs375403059
|
|
|
NM_001267550.2(TTN):c.56730T>C (p.Tyr18910=)
|
|
|
|
NM_001267550.2(TTN):c.56739C>T (p.Gly18913=)
|
|
|
|
NM_001267550.2(TTN):c.56766A>G (p.Glu18922=)
|
|
|
|
NM_001267550.2(TTN):c.56850G>C (p.Val18950=)
|
rs368068200
|
|
|
NM_001267550.2(TTN):c.56850G>T (p.Val18950=)
|
|
|
|
NM_001267550.2(TTN):c.56880A>G (p.Gln18960=)
|
|
|
|
NM_001267550.2(TTN):c.56884C>A (p.Arg18962=)
|
|
|
|
NM_001267550.2(TTN):c.5688C>T (p.Tyr1896=)
|
rs2154346032
|
|
|
NM_001267550.2(TTN):c.56892T>C (p.Tyr18964=)
|
|
|
|
NM_001267550.2(TTN):c.56910C>G (p.Gly18970=)
|
|
|
|
NM_001267550.2(TTN):c.56925T>C (p.Ser18975=)
|
|
|
|
NM_001267550.2(TTN):c.56940A>T (p.Pro18980=)
|
rs2154190819
|
|
|
NM_001267550.2(TTN):c.56962+10G>A
|
rs2154190782
|
|
|
NM_001267550.2(TTN):c.56962+19C>T
|
rs1018091646
|
|
|
NM_001267550.2(TTN):c.56962+20C>G
|
|
|
|
NM_001267550.2(TTN):c.56962+20C>T
|
rs2154190767
|
|
|
NM_001267550.2(TTN):c.56963-16T>C
|
|
|
|
NM_001267550.2(TTN):c.56963-19G>A
|
rs369216122
|
|
|
NM_001267550.2(TTN):c.56963-19_56963-18delinsTC
|
rs2154190692
|
|
|
NM_001267550.2(TTN):c.56963-20C>T
|
|
|
|
NM_001267550.2(TTN):c.56979A>G (p.Pro18993=)
|
|
|
|
NM_001267550.2(TTN):c.56985C>G (p.Pro18995=)
|
|
|
|
NM_001267550.2(TTN):c.57015A>G (p.Ala19005=)
|
rs372661513
|
|
|
NM_001267550.2(TTN):c.57021G>A (p.Leu19007=)
|
|
|
|
NM_001267550.2(TTN):c.57033C>G (p.Pro19011=)
|
rs1422490287
|
|
|
NM_001267550.2(TTN):c.57036A>C (p.Pro19012=)
|
|
|
|
NM_001267550.2(TTN):c.57037C>T (p.Leu19013=)
|
rs1163783293
|
|
|
NM_001267550.2(TTN):c.57045T>C (p.Asp19015=)
|
rs755566823
|
|
|
NM_001267550.2(TTN):c.57063T>C (p.Thr19021=)
|
rs2154190583
|
|
|
NM_001267550.2(TTN):c.5709A>G (p.Lys1903=)
|
rs1574655273
|
|
|
NM_001267550.2(TTN):c.57111+13G>A
|
|
|
|
NM_001267550.2(TTN):c.57111+15C>A
|
rs2154190538
|
|
|
NM_001267550.2(TTN):c.57112-13G>A
|
|
|
|
NM_001267550.2(TTN):c.57112-13G>T
|
|
|
|
NM_001267550.2(TTN):c.57112-15A>G
|
rs2154190198
|
|
|
NM_001267550.2(TTN):c.57112-17C>T
|
|
|
|
NM_001267550.2(TTN):c.57112-5C>T
|
rs2154190183
|
|
|
NM_001267550.2(TTN):c.57153A>G (p.Thr19051=)
|
|
|
|
NM_001267550.2(TTN):c.57177C>T (p.Tyr19059=)
|
|
|
|
NM_001267550.2(TTN):c.57189T>G (p.Val19063=)
|
rs1314872554
|
|
|
NM_001267550.2(TTN):c.57207T>C (p.Ala19069=)
|
rs1312323452
|
|
|
NM_001267550.2(TTN):c.57207T>G (p.Ala19069=)
|
rs1312323452
|
|
|
NM_001267550.2(TTN):c.57222T>G (p.Pro19074=)
|
rs2154190112
|
|
|
NM_001267550.2(TTN):c.57255C>T (p.Asp19085=)
|
|
|
|
NM_001267550.2(TTN):c.57262+11A>G
|
|
|
|
NM_001267550.2(TTN):c.57262+11A>T
|
|
|
|
NM_001267550.2(TTN):c.57262+15T>C
|
|
|
|
NM_001267550.2(TTN):c.57262+18C>T
|
|
|
|
NM_001267550.2(TTN):c.57263-20T>A
|
|
|
|
NM_001267550.2(TTN):c.57263-5T>C
|
|
|
|
NM_001267550.2(TTN):c.57300T>C (p.Asp19100=)
|
rs876658069
|
|
|
NM_001267550.2(TTN):c.57321A>G (p.Gly19107=)
|
|
|
|
NM_001267550.2(TTN):c.57324G>T (p.Gly19108=)
|
|
|
|
NM_001267550.2(TTN):c.57327G>C (p.Val19109=)
|
|
|
|
NM_001267550.2(TTN):c.57339T>C (p.Ile19113=)
|
|
|
|
NM_001267550.2(TTN):c.5733G>A (p.Lys1911=)
|
|
|
|
NM_001267550.2(TTN):c.57342C>T (p.Ala19114=)
|
|
|
|
NM_001267550.2(TTN):c.57345T>C (p.Tyr19115=)
|
rs879000172
|
|
|
NM_001267550.2(TTN):c.57360T>A (p.Pro19120=)
|
rs778995340
|
|
|
NM_001267550.2(TTN):c.57363T>A (p.Pro19121=)
|
|
|
|
NM_001267550.2(TTN):c.57387T>C (p.Asn19129=)
|
rs375305621
|
|
|
NM_001267550.2(TTN):c.5739C>T (p.Thr1913=)
|
rs530291008
|
|
|
NM_001267550.2(TTN):c.57408A>G (p.Glu19136=)
|
rs553505206
|
|
|
NM_001267550.2(TTN):c.57414C>G (p.Thr19138=)
|
|
|
|
NM_001267550.2(TTN):c.57441C>T (p.Ser19147=)
|
rs2052069695
|
|
|
NM_001267550.2(TTN):c.57480C>T (p.Val19160=)
|
|
|
|
NM_001267550.2(TTN):c.5751T>A (p.Pro1917=)
|
|
|
|
NM_001267550.2(TTN):c.5751T>C (p.Pro1917=)
|
rs2154345998
|
|
|
NM_001267550.2(TTN):c.57544+14A>G
|
|
|
|
NM_001267550.2(TTN):c.57545-11_57545-9del
|
rs767743244
|
|
|
NM_001267550.2(TTN):c.57545-17T>C
|
|
|
|
NM_001267550.2(TTN):c.57545-4C>A
|
|
|
|
NM_001267550.2(TTN):c.57545-4C>T
|
rs1475396962
|
|
|
NM_001267550.2(TTN):c.57546T>C (p.Asp19182=)
|
rs377173415
|
|
|
NM_001267550.2(TTN):c.57570A>T (p.Pro19190=)
|
|
|
|
NM_001267550.2(TTN):c.57582C>T (p.His19194=)
|
|
|
|
NM_001267550.2(TTN):c.57600C>T (p.Ser19200=)
|
|
|
|
NM_001267550.2(TTN):c.5760G>A (p.Val1920=)
|
rs1291703322
|
|
|
NM_001267550.2(TTN):c.57612A>C (p.Thr19204=)
|
|
|
|
NM_001267550.2(TTN):c.57633T>C (p.Asp19211=)
|
|
|
|
NM_001267550.2(TTN):c.57651C>G (p.Thr19217=)
|
|
|
|
NM_001267550.2(TTN):c.57657T>C (p.Tyr19219=)
|
rs1282441893
|
|
|
NM_001267550.2(TTN):c.57660C>G (p.Val19220=)
|
rs1553655572
|
|
|
NM_001267550.2(TTN):c.5766G>A (p.Glu1922=)
|
rs1554006506
|
|
|
NM_001267550.2(TTN):c.57678T>C (p.Ser19226=)
|
|
|
|
NM_001267550.2(TTN):c.57690A>C (p.Ala19230=)
|
rs2154188285
|
|
|
NM_001267550.2(TTN):c.57699A>G (p.Pro19233=)
|
rs374467756
|
|
|
NM_001267550.2(TTN):c.57699A>T (p.Pro19233=)
|
|
|
|
NM_001267550.2(TTN):c.5769T>C (p.His1923=)
|
|
|
|
NM_001267550.2(TTN):c.57711A>T (p.Thr19237=)
|
|
|
|
NM_001267550.2(TTN):c.57729T>C (p.Ala19243=)
|
|
|
|
NM_001267550.2(TTN):c.57744C>T (p.Leu19248=)
|
|
|
|
NM_001267550.2(TTN):c.57768C>T (p.Phe19256=)
|
|
|
|
NM_001267550.2(TTN):c.57847+10A>G
|
|
|
|
NM_001267550.2(TTN):c.57847+11A>C
|
|
|
|
NM_001267550.2(TTN):c.57847+13A>C
|
|
|
|
NM_001267550.2(TTN):c.57847+19_57847+20del
|
|
|
|
NM_001267550.2(TTN):c.57847+20T>A
|
|
|
|
NM_001267550.2(TTN):c.57847+20T>C
|
rs1559631841
|
|
|
NM_001267550.2(TTN):c.57847+20del
|
|
|
|
NM_001267550.2(TTN):c.57848-11T>G
|
|
|
|
NM_001267550.2(TTN):c.57848-13del
|
|
|
|
NM_001267550.2(TTN):c.57848-15T>C
|
rs2051023057
|
|
|
NM_001267550.2(TTN):c.57848-16A>G
|
|
|
|
NM_001267550.2(TTN):c.57848-17T>C
|
|
|
|
NM_001267550.2(TTN):c.57848-4G>T
|
|
|
|
NM_001267550.2(TTN):c.57855A>G (p.Pro19285=)
|
|
|
|
NM_001267550.2(TTN):c.57864T>C (p.Pro19288=)
|
|
|
|
NM_001267550.2(TTN):c.57864T>G (p.Pro19288=)
|
rs878854320
|
|
|
NM_001267550.2(TTN):c.57870C>T (p.Asp19290=)
|
rs2154187342
|
|
|
NM_001267550.2(TTN):c.5790A>G (p.Gln1930=)
|
rs2154345985
|
|
|
NM_001267550.2(TTN):c.57930T>C (p.Tyr19310=)
|
|
|
|
NM_001267550.2(TTN):c.57957T>C (p.Tyr19319=)
|
|
|
|
NM_001267550.2(TTN):c.57960C>T (p.Val19320=)
|
|
|
|
NM_001267550.2(TTN):c.57975C>T (p.Leu19325=)
|
rs2154187284
|
|
|
NM_001267550.2(TTN):c.57981G>C (p.Gly19327=)
|
|
|
|
NM_001267550.2(TTN):c.57984T>A (p.Thr19328=)
|
|
|
|
NM_001267550.2(TTN):c.5799A>G (p.Glu1933=)
|
rs1193394666
|
|
|
NM_001267550.2(TTN):c.5802T>C (p.Asp1934=)
|
rs1489067798
|
|
|
NM_001267550.2(TTN):c.58032C>T (p.Tyr19344=)
|
|
|
|
NM_001267550.2(TTN):c.58035T>G (p.Thr19345=)
|
rs2154187241
|
|
|
NM_001267550.2(TTN):c.58056T>C (p.Gly19352=)
|
|
|
|
NM_001267550.2(TTN):c.58080T>C (p.Ser19360=)
|
rs1462921447
|
|
|
NM_001267550.2(TTN):c.58083T>C (p.Ala19361=)
|
|
|
|
NM_001267550.2(TTN):c.5808G>A (p.Arg1936=)
|
rs2154345977
|
|
|
NM_001267550.2(TTN):c.58092T>C (p.Ile19364=)
|
|
|
|
NM_001267550.2(TTN):c.58128A>G (p.Pro19376=)
|
|
|
|
NM_001267550.2(TTN):c.58143T>C (p.Asp19381=)
|
|
|
|
NM_001267550.2(TTN):c.58147C>T (p.Leu19383=)
|
rs1296087829
|
|
|
NM_001267550.2(TTN):c.58150+11A>G
|
|
|
|
NM_001267550.2(TTN):c.58150+12C>T
|
|
|
|
NM_001267550.2(TTN):c.58150+17A>G
|
rs779666540
|
|
|
NM_001267550.2(TTN):c.58150+18T>C
|
rs2154187156
|
|
|
NM_001267550.2(TTN):c.58150+3_58150+6dup
|
|
|
|
NM_001267550.2(TTN):c.58151-10C>T
|
|
|
|
NM_001267550.2(TTN):c.58151-8A>C
|
|
|
|
NM_001267550.2(TTN):c.58158A>G (p.Pro19386=)
|
|
|
|
NM_001267550.2(TTN):c.58179A>G (p.Arg19393=)
|
rs1576157931
|
|
|
NM_001267550.2(TTN):c.58194T>A (p.Ile19398=)
|
|
|
|
NM_001267550.2(TTN):c.58197A>C (p.Arg19399=)
|
|
|
|
NM_001267550.2(TTN):c.58215C>T (p.Ala19405=)
|
rs1416440515
|
|
|
NM_001267550.2(TTN):c.58254T>C (p.Val19418=)
|
rs2154187012
|
|
|
NM_001267550.2(TTN):c.58275T>C (p.Ala19425=)
|
|
|
|
NM_001267550.2(TTN):c.58281G>A (p.Val19427=)
|
|
|
|
NM_001267550.2(TTN):c.583+14G>A
|
|
|
|
NM_001267550.2(TTN):c.583+15T>C
|
|
|
|
NM_001267550.2(TTN):c.58308G>A (p.Lys19436=)
|
|
|
|
NM_001267550.2(TTN):c.58314A>G (p.Thr19438=)
|
rs2154186977
|
|
|
NM_001267550.2(TTN):c.58350A>G (p.Lys19450=)
|
rs1576155335
|
|
|
NM_001267550.2(TTN):c.58356A>C (p.Ser19452=)
|
|
|
|
NM_001267550.2(TTN):c.58374T>C (p.Cys19458=)
|
|
|
|
NM_001267550.2(TTN):c.58383G>A (p.Val19461=)
|
|
|
|
NM_001267550.2(TTN):c.58392T>C (p.Ser19464=)
|
rs876657609
|
|
|
NM_001267550.2(TTN):c.584-14T>C
|
|
|
|
NM_001267550.2(TTN):c.584-18A>G
|
|
|
|
NM_001267550.2(TTN):c.58428T>A (p.Val19476=)
|
|
|
|
NM_001267550.2(TTN):c.58432+14A>G
|
|
|
|
NM_001267550.2(TTN):c.58432+18G>A
|
rs991375461
|
|
|
NM_001267550.2(TTN):c.58433-15T>G
|
rs2050786898
|
|
|
NM_001267550.2(TTN):c.58433-16T>A
|
|
|
|
NM_001267550.2(TTN):c.58433-17A>G
|
rs998696984
|
|
|
NM_001267550.2(TTN):c.58433-19T>C
|
|
|
|
NM_001267550.2(TTN):c.58433-20A>G
|
rs893587198
|
|
|
NM_001267550.2(TTN):c.58433-7T>C
|
|
|
|
NM_001267550.2(TTN):c.5844G>A (p.Glu1948=)
|
|
|
|
NM_001267550.2(TTN):c.5847T>C (p.Phe1949=)
|
rs879049862
|
|
|
NM_001267550.2(TTN):c.58500T>C (p.Ser19500=)
|
rs2154186704
|
|
|
NM_001267550.2(TTN):c.5850C>T (p.His1950=)
|
rs1057523471
|
|
|
NM_001267550.2(TTN):c.58533A>G (p.Lys19511=)
|
|
|
|
NM_001267550.2(TTN):c.58536C>T (p.Ile19512=)
|
|
|
|
NM_001267550.2(TTN):c.58557G>A (p.Lys19519=)
|
rs772071197
|
|
|
NM_001267550.2(TTN):c.58599A>C (p.Ala19533=)
|
|
|
|
NM_001267550.2(TTN):c.58635T>C (p.Leu19545=)
|
rs2050737410
|
|
|
NM_001267550.2(TTN):c.58653T>A (p.Ile19551=)
|
rs727504980
|
|
|
NM_001267550.2(TTN):c.58659G>A (p.Arg19553=)
|
|
|
|
NM_001267550.2(TTN):c.58732+10A>T
|
|
|
|
NM_001267550.2(TTN):c.58732+11T>C
|
|
|
|
NM_001267550.2(TTN):c.58732+7A>C
|
rs1559614110
|
|
|
NM_001267550.2(TTN):c.58732+7A>G
|
rs1559614110
|
|
|
NM_001267550.2(TTN):c.58732+8T>C
|
rs2050707804
|
|
|
NM_001267550.2(TTN):c.58733-16C>T
|
|
|
|
NM_001267550.2(TTN):c.58733-4A>G
|
|
|
|
NM_001267550.2(TTN):c.58746A>G (p.Ala19582=)
|
rs1336124090
|
|
|
NM_001267550.2(TTN):c.58749T>G (p.Pro19583=)
|
|
|
|
NM_001267550.2(TTN):c.58767A>C (p.Thr19589=)
|
|
|
|
NM_001267550.2(TTN):c.58767A>G (p.Thr19589=)
|
rs1349484500
|
|
|
NM_001267550.2(TTN):c.58782C>T (p.Asp19594=)
|
rs372682637
|
|
|
NM_001267550.2(TTN):c.58788A>G (p.Ala19596=)
|
|
|
|
NM_001267550.2(TTN):c.58809A>G (p.Pro19603=)
|
|
|
|
NM_001267550.2(TTN):c.58920G>A (p.Arg19640=)
|
rs1021783788
|
|
|
NM_001267550.2(TTN):c.5892G>A (p.Val1964=)
|
rs752730793
|
|
|
NM_001267550.2(TTN):c.58959G>A (p.Arg19653=)
|
|
|
|
NM_001267550.2(TTN):c.58971A>G (p.Glu19657=)
|
rs200728232
|
|
|
NM_001267550.2(TTN):c.58986T>C (p.Ile19662=)
|
rs879136535
|
|
|
NM_001267550.2(TTN):c.58995A>G (p.Pro19665=)
|
|
|
|
NM_001267550.2(TTN):c.59031A>G (p.Pro19677=)
|
rs886042123
|
|
|
NM_001267550.2(TTN):c.59035+14G>A
|
|
|
|
NM_001267550.2(TTN):c.59035+8A>T
|
|
|
|
NM_001267550.2(TTN):c.59036-18_59036-16del
|
|
|
|
NM_001267550.2(TTN):c.59036-19T>C
|
|
|
|
NM_001267550.2(TTN):c.59043A>C (p.Pro19681=)
|
rs1576134635
|
|
|
NM_001267550.2(TTN):c.59082C>T (p.Cys19694=)
|
|
|
|
NM_001267550.2(TTN):c.59100T>A (p.Thr19700=)
|
rs779339615
|
|
|
NM_001267550.2(TTN):c.59109A>T (p.Pro19703=)
|
rs760422669
|
|
|
NM_001267550.2(TTN):c.59112A>G (p.Pro19704=)
|
|
|
|
NM_001267550.2(TTN):c.59145T>C (p.Tyr19715=)
|
|
|
|
NM_001267550.2(TTN):c.59172T>C (p.Asp19724=)
|
rs1373178934
|
|
|
NM_001267550.2(TTN):c.59193T>C (p.Asn19731=)
|
rs774146313
|
|
|
NM_001267550.2(TTN):c.59199C>A (p.Thr19733=)
|
|
|
|
NM_001267550.2(TTN):c.59208A>G (p.Ser19736=)
|
rs2154185973
|
|
|
NM_001267550.2(TTN):c.59232C>T (p.Val19744=)
|
rs2050534422
|
|
|
NM_001267550.2(TTN):c.59253A>G (p.Gln19751=)
|
rs1403010122
|
|
|
NM_001267550.2(TTN):c.59283T>C (p.Asn19761=)
|
|
|
|
NM_001267550.2(TTN):c.59344+10A>G
|
|
|
|
NM_001267550.2(TTN):c.59344+11T>C
|
rs2154185854
|
|
|
NM_001267550.2(TTN):c.59344+15C>G
|
|
|
|
NM_001267550.2(TTN):c.59344+7A>T
|
|
|
|
NM_001267550.2(TTN):c.59345-16_59345-12del
|
|
|
|
NM_001267550.2(TTN):c.59349C>A (p.Pro19783=)
|
rs1576126915
|
|
|
NM_001267550.2(TTN):c.59367T>C (p.Asp19789=)
|
rs760729655
|
|
|
NM_001267550.2(TTN):c.5937G>A (p.Leu1979=)
|
|
|
|
NM_001267550.2(TTN):c.59380A>C (p.Arg19794=)
|
|
|
|
NM_001267550.2(TTN):c.59412A>G (p.Leu19804=)
|
|
|
|
NM_001267550.2(TTN):c.59418T>C (p.Leu19806=)
|
rs1576125620
|
|
|
NM_001267550.2(TTN):c.59421T>C (p.Ser19807=)
|
|
|
|
NM_001267550.2(TTN):c.59439G>A (p.Val19813=)
|
|
|
|
NM_001267550.2(TTN):c.59439G>C (p.Val19813=)
|
|
|
|
NM_001267550.2(TTN):c.59478T>C (p.Asp19826=)
|
rs764950470
|
|
|
NM_001267550.2(TTN):c.59517T>C (p.Gly19839=)
|
|
|
|
NM_001267550.2(TTN):c.59574A>G (p.Thr19858=)
|
|
|
|
NM_001267550.2(TTN):c.59580G>A (p.Glu19860=)
|
|
|
|
NM_001267550.2(TTN):c.59583T>C (p.Asn19861=)
|
rs2154185637
|
|
|
NM_001267550.2(TTN):c.59589T>C (p.Ala19863=)
|
|
|
|
NM_001267550.2(TTN):c.59604C>G (p.Val19868=)
|
rs2154185619
|
|
|
NM_001267550.2(TTN):c.5961T>C (p.His1987=)
|
rs2154345910
|
|
|
NM_001267550.2(TTN):c.59626+13C>A
|
|
|
|
NM_001267550.2(TTN):c.59626+7del
|
rs766734794
|
|
|
NM_001267550.2(TTN):c.59627-17T>C
|
|
|
|
NM_001267550.2(TTN):c.59627-19G>C
|
|
|
|
NM_001267550.2(TTN):c.59667T>C (p.Ile19889=)
|
|
|
|
NM_001267550.2(TTN):c.59670G>A (p.Arg19890=)
|
rs2154185494
|
|
|
NM_001267550.2(TTN):c.59724T>C (p.Val19908=)
|
rs2154185451
|
|
|
NM_001267550.2(TTN):c.59730C>T (p.Thr19910=)
|
rs1576118852
|
|
|
NM_001267550.2(TTN):c.59739G>T (p.Val19913=)
|
rs1347100360
|
|
|
NM_001267550.2(TTN):c.5973T>G (p.Pro1991=)
|
rs1554005997
|
|
|
NM_001267550.2(TTN):c.59775A>G (p.Ser19925=)
|
|
|
|
NM_001267550.2(TTN):c.59790A>G (p.Thr19930=)
|
|
|
|
NM_001267550.2(TTN):c.59808C>T (p.His19936=)
|
|
|
|
NM_001267550.2(TTN):c.59820T>C (p.His19940=)
|
|
|
|
NM_001267550.2(TTN):c.59841C>T (p.Tyr19947=)
|
|
|
|
NM_001267550.2(TTN):c.59853A>G (p.Val19951=)
|
|
|
|
NM_001267550.2(TTN):c.59859G>C (p.Ala19953=)
|
rs759120495
|
|
|
NM_001267550.2(TTN):c.59862G>A (p.Glu19954=)
|
|
|
|
NM_001267550.2(TTN):c.59880T>A (p.Gly19960=)
|
rs2154185348
|
|
|
NM_001267550.2(TTN):c.59889T>G (p.Val19963=)
|
|
|
|
NM_001267550.2(TTN):c.5991G>A (p.Leu1997=)
|
|
|
|
NM_001267550.2(TTN):c.59926+10T>C
|
rs2154185308
|
|
|
NM_001267550.2(TTN):c.59927-10C>T
|
rs1559597189
|
|
|
NM_001267550.2(TTN):c.59927-13C>A
|
|
|
|
NM_001267550.2(TTN):c.59927-14T>G
|
|
|
|
NM_001267550.2(TTN):c.59927-15T>C
|
rs764686070
|
|
|
NM_001267550.2(TTN):c.59927-16C>G
|
|
|
|
NM_001267550.2(TTN):c.59927-16CTT[2]
|
rs1338225091
|
|
|
NM_001267550.2(TTN):c.59927-18A>C
|
|
|
|
NM_001267550.2(TTN):c.59927-19T>C
|
|
|
|
NM_001267550.2(TTN):c.59934A>G (p.Pro19978=)
|
rs2154185249
|
|
|
NM_001267550.2(TTN):c.59937G>T (p.Gly19979=)
|
|
|
|
NM_001267550.2(TTN):c.59943C>T (p.Pro19981=)
|
|
|
|
NM_001267550.2(TTN):c.60066G>A (p.Gln20022=)
|
rs878867252
|
|
|
NM_001267550.2(TTN):c.60120A>G (p.Leu20040=)
|
rs878854323
|
|
|
NM_001267550.2(TTN):c.60129A>G (p.Gly20043=)
|
rs941127366
|
|
|
NM_001267550.2(TTN):c.6012A>G (p.Arg2004=)
|
|
|
|
NM_001267550.2(TTN):c.6015A>G (p.Thr2005=)
|
|
|
|
NM_001267550.2(TTN):c.60162C>T (p.Asn20054=)
|
|
|
|
NM_001267550.2(TTN):c.6018A>G (p.Glu2006=)
|
rs2154345887
|
|
|
NM_001267550.2(TTN):c.60192T>C (p.Thr20064=)
|
rs1215674180
|
|
|
NM_001267550.2(TTN):c.60220+16G>C
|
|
|
|
NM_001267550.2(TTN):c.60220+17C>T
|
|
|
|
NM_001267550.2(TTN):c.60220+18A>T
|
|
|
|
NM_001267550.2(TTN):c.60220+20T>G
|
|
|
|
NM_001267550.2(TTN):c.60221-10del
|
rs2154185014
|
|
|
NM_001267550.2(TTN):c.60221-4del
|
rs1299580089
|
|
|
NM_001267550.2(TTN):c.60221-8C>A
|
rs1362866017
|
|
|
NM_001267550.2(TTN):c.60234G>T (p.Val20078=)
|
rs2154184993
|
|
|
NM_001267550.2(TTN):c.60273G>A (p.Lys20091=)
|
rs775961664
|
|
|
NM_001267550.2(TTN):c.6027T>C (p.Tyr2009=)
|
rs1355700305
|
|
|
NM_001267550.2(TTN):c.60348G>A (p.Gly20116=)
|
rs2050156802
|
|
|
NM_001267550.2(TTN):c.60348G>C (p.Gly20116=)
|
rs2050156802
|
|
|
NM_001267550.2(TTN):c.60351T>C (p.Ser20117=)
|
|
|
|
NM_001267550.2(TTN):c.6036C>T (p.Ala2012=)
|
|
|
|
NM_001267550.2(TTN):c.60372C>T (p.His20124=)
|
|
|
|
NM_001267550.2(TTN):c.60399A>G (p.Ser20133=)
|
rs1553644118
|
|
|
NM_001267550.2(TTN):c.60399A>T (p.Ser20133=)
|
|
|
|
NM_001267550.2(TTN):c.6042C>T (p.Thr2014=)
|
|
|
|
NM_001267550.2(TTN):c.60438T>C (p.Thr20146=)
|
|
|
|
NM_001267550.2(TTN):c.60438T>G (p.Thr20146=)
|
|
|
|
NM_001267550.2(TTN):c.60453C>T (p.Ile20151=)
|
|
|
|
NM_001267550.2(TTN):c.60501T>C (p.Thr20167=)
|
rs1459026538
|
|
|
NM_001267550.2(TTN):c.60549T>C (p.Asp20183=)
|
rs761322852
|
|
|
NM_001267550.2(TTN):c.60612G>A (p.Val20204=)
|
|
|
|
NM_001267550.2(TTN):c.60615A>C (p.Ile20205=)
|
|
|
|
NM_001267550.2(TTN):c.60624T>C (p.Ile20208=)
|
|
|
|
NM_001267550.2(TTN):c.60639T>C (p.Asp20213=)
|
rs2154184767
|
|
|
NM_001267550.2(TTN):c.60642A>G (p.Thr20214=)
|
rs527667308
|
|
|
NM_001267550.2(TTN):c.60666C>G (p.Val20222=)
|
|
|
|
NM_001267550.2(TTN):c.60687A>G (p.Thr20229=)
|
rs1576097493
|
|
|
NM_001267550.2(TTN):c.60723A>G (p.Glu20241=)
|
|
|
|
NM_001267550.2(TTN):c.60726T>C (p.Tyr20242=)
|
rs145423907
|
|
|
NM_001267550.2(TTN):c.60729T>C (p.Val20243=)
|
|
|
|
NM_001267550.2(TTN):c.60759T>G (p.Gly20253=)
|
|
|
|
NM_001267550.2(TTN):c.6075A>G (p.Glu2025=)
|
rs778940741
|
|
|
NM_001267550.2(TTN):c.60762T>C (p.Val20254=)
|
|
|
|
NM_001267550.2(TTN):c.60771C>G (p.Pro20257=)
|
|
|
|
NM_001267550.2(TTN):c.60771C>T (p.Pro20257=)
|
|
|
|
NM_001267550.2(TTN):c.60774T>C (p.Leu20258=)
|
rs1207936853
|
|
|
NM_001267550.2(TTN):c.60777C>T (p.Asp20259=)
|
|
|
|
NM_001267550.2(TTN):c.60783A>G (p.Thr20261=)
|
rs2154184689
|
|
|
NM_001267550.2(TTN):c.6078C>G (p.Ser2026=)
|
|
|
|
NM_001267550.2(TTN):c.60807T>C (p.Phe20269=)
|
|
|
|
NM_001267550.2(TTN):c.60837G>C (p.Val20279=)
|
rs2154184657
|
|
|
NM_001267550.2(TTN):c.60882G>C (p.Leu20294=)
|
rs2154184626
|
|
|
NM_001267550.2(TTN):c.60891T>G (p.Ser20297=)
|
|
|
|
NM_001267550.2(TTN):c.60894T>C (p.Asp20298=)
|
|
|
|
NM_001267550.2(TTN):c.60960C>G (p.Val20320=)
|
rs1576093080
|
|
|
NM_001267550.2(TTN):c.61017T>C (p.Asn20339=)
|
|
|
|
NM_001267550.2(TTN):c.61050T>A (p.Leu20350=)
|
|
|
|
NM_001267550.2(TTN):c.61050T>C (p.Leu20350=)
|
|
|
|
NM_001267550.2(TTN):c.61056A>G (p.Gly20352=)
|
|
|
|
NM_001267550.2(TTN):c.6108T>C (p.Asp2036=)
|
rs2154345842
|
|
|
NM_001267550.2(TTN):c.61095T>C (p.Ala20365=)
|
|
|
|
NM_001267550.2(TTN):c.61098C>T (p.Cys20366=)
|
rs755233818
|
|
|
NM_001267550.2(TTN):c.61107C>T (p.Ile20369=)
|
rs2050003537
|
|
|
NM_001267550.2(TTN):c.61110A>G (p.Lys20370=)
|
|
|
|
NM_001267550.2(TTN):c.61125T>C (p.Pro20375=)
|
|
|
|
NM_001267550.2(TTN):c.61146C>T (p.Asp20382=)
|
rs1365628333
|
|
|
NM_001267550.2(TTN):c.61149G>A (p.Lys20383=)
|
rs727504968
|
|
|
NM_001267550.2(TTN):c.61161A>G (p.Thr20387=)
|
rs1576089893
|
|
|
NM_001267550.2(TTN):c.61167T>C (p.Asp20389=)
|
|
|
|
NM_001267550.2(TTN):c.61197T>C (p.Gly20399=)
|
|
|
|
NM_001267550.2(TTN):c.61200T>C (p.Gly20400=)
|
|
|
|
NM_001267550.2(TTN):c.61203C>T (p.Ser20401=)
|
rs779637589
|
|
|
NM_001267550.2(TTN):c.61206C>T (p.Pro20402=)
|
rs1559582385
|
|
|
NM_001267550.2(TTN):c.61221A>G (p.Val20407=)
|
|
|
|
NM_001267550.2(TTN):c.61224G>C (p.Val20408=)
|
|
|
|
NM_001267550.2(TTN):c.61272T>C (p.Asp20424=)
|
|
|
|
NM_001267550.2(TTN):c.61281T>C (p.Ile20427=)
|
|
|
|
NM_001267550.2(TTN):c.61293C>A (p.Ala20431=)
|
|
|
|
NM_001267550.2(TTN):c.61330A>C (p.Arg20444=)
|
rs2049952594
|
|
|
NM_001267550.2(TTN):c.61332A>G (p.Arg20444=)
|
rs758056865
|
|
|
NM_001267550.2(TTN):c.61335C>T (p.Phe20445=)
|
rs2049950535
|
|
|
NM_001267550.2(TTN):c.61338T>C (p.Arg20446=)
|
|
|
|
NM_001267550.2(TTN):c.61344G>A (p.Lys20448=)
|
|
|
|
NM_001267550.2(TTN):c.61347A>G (p.Ala20449=)
|
rs2154184350
|
|
|
NM_001267550.2(TTN):c.61386A>G (p.Ala20462=)
|
|
|
|
NM_001267550.2(TTN):c.61395G>T (p.Val20465=)
|
|
|
|
NM_001267550.2(TTN):c.61449T>C (p.Arg20483=)
|
rs776820569
|
|
|
NM_001267550.2(TTN):c.61452T>C (p.Asp20484=)
|
|
|
|
NM_001267550.2(TTN):c.61464G>A (p.Val20488=)
|
|
|
|
NM_001267550.2(TTN):c.61500C>A (p.Val20500=)
|
rs1057522407
|
|
|
NM_001267550.2(TTN):c.61503A>G (p.Lys20501=)
|
|
|
|
NM_001267550.2(TTN):c.61533T>G (p.Thr20511=)
|
|
|
|
NM_001267550.2(TTN):c.61542C>G (p.Gly20514=)
|
rs2154184226
|
|
|
NM_001267550.2(TTN):c.61545A>G (p.Lys20515=)
|
|
|
|
NM_001267550.2(TTN):c.61554C>T (p.Val20518=)
|
rs1482977483
|
|
|
NM_001267550.2(TTN):c.61584T>C (p.Asp20528=)
|
|
|
|
NM_001267550.2(TTN):c.61585C>T (p.Leu20529=)
|
rs2154184204
|
|
|
NM_001267550.2(TTN):c.61593T>C (p.Arg20531=)
|
rs2154184197
|
|
|
NM_001267550.2(TTN):c.61596T>C (p.Val20532=)
|
rs2154184195
|
|
|
NM_001267550.2(TTN):c.61620T>C (p.Val20540=)
|
|
|
|
NM_001267550.2(TTN):c.61632T>C (p.His20544=)
|
|
|
|
NM_001267550.2(TTN):c.61644C>T (p.Ile20548=)
|
rs758509448
|
|
|
NM_001267550.2(TTN):c.61653T>C (p.Ala20551=)
|
|
|
|
NM_001267550.2(TTN):c.61659C>T (p.Asn20553=)
|
rs1009639599
|
|
|
NM_001267550.2(TTN):c.6165A>G (p.Glu2055=)
|
|
|
|
NM_001267550.2(TTN):c.61692T>A (p.Val20564=)
|
rs1553641761
|
|
|
NM_001267550.2(TTN):c.61710T>C (p.Pro20570=)
|
|
|
|
NM_001267550.2(TTN):c.61776C>T (p.Asn20592=)
|
|
|
|
NM_001267550.2(TTN):c.61797A>T (p.Ser20599=)
|
rs1384718130
|
|
|
NM_001267550.2(TTN):c.6180G>A (p.Thr2060=)
|
rs990559709
|
|
|
NM_001267550.2(TTN):c.6180G>C (p.Thr2060=)
|
|
|
|
NM_001267550.2(TTN):c.61890C>T (p.Ala20630=)
|
|
|
|
NM_001267550.2(TTN):c.61893C>T (p.Asn20631=)
|
rs940775890
|
|
|
NM_001267550.2(TTN):c.618A>G (p.Thr206=)
|
rs2154358681
|
|
|
NM_001267550.2(TTN):c.61905C>T (p.Asn20635=)
|
rs749547976
|
|
|
NM_001267550.2(TTN):c.6192T>C (p.Phe2064=)
|
rs759437501
|
|
|
NM_001267550.2(TTN):c.61935G>A (p.Glu20645=)
|
rs2154184014
|
|
|
NM_001267550.2(TTN):c.61947T>C (p.Gly20649=)
|
|
|
|
NM_001267550.2(TTN):c.61953G>A (p.Gly20651=)
|
rs1007434751
|
|
|
NM_001267550.2(TTN):c.62013G>A (p.Glu20671=)
|
rs2049808933
|
|
|
NM_001267550.2(TTN):c.62037T>C (p.Asp20679=)
|
rs878956804
|
|
|
NM_001267550.2(TTN):c.6204G>A (p.Lys2068=)
|
rs760573086
|
|
|
NM_001267550.2(TTN):c.62085T>C (p.Asp20695=)
|
rs2154183924
|
|
|
NM_001267550.2(TTN):c.62088T>A (p.Gly20696=)
|
rs1576074400
|
|
|
NM_001267550.2(TTN):c.62091C>T (p.Gly20697=)
|
rs2154183915
|
|
|
NM_001267550.2(TTN):c.62103G>A (p.Leu20701=)
|
|
|
|
NM_001267550.2(TTN):c.62103G>T (p.Leu20701=)
|
rs2154183901
|
|
|
NM_001267550.2(TTN):c.62139T>C (p.Asp20713=)
|
|
|
|
NM_001267550.2(TTN):c.62151A>G (p.Arg20717=)
|
|
|
|
NM_001267550.2(TTN):c.62211G>A (p.Gln20737=)
|
rs531575930
|
|
|
NM_001267550.2(TTN):c.62250G>T (p.Gly20750=)
|
|
|
|
NM_001267550.2(TTN):c.62268G>A (p.Lys20756=)
|
rs2154183785
|
|
|
NM_001267550.2(TTN):c.62307A>C (p.Pro20769=)
|
|
|
|
NM_001267550.2(TTN):c.62317C>T (p.Leu20773=)
|
rs375173874
|
|
|
NM_001267550.2(TTN):c.62319G>A (p.Leu20773=)
|
|
|
|
NM_001267550.2(TTN):c.62334C>T (p.Val20778=)
|
rs2154183740
|
|
|
NM_001267550.2(TTN):c.62355C>T (p.Asp20785=)
|
rs766020138
|
|
|
NM_001267550.2(TTN):c.62385C>G (p.Gly20795=)
|
rs72646848
|
|
|
NM_001267550.2(TTN):c.6240C>T (p.Ile2080=)
|
rs1398450518
|
|
|
NM_001267550.2(TTN):c.62412C>G (p.Thr20804=)
|
rs1298817333
|
|
|
NM_001267550.2(TTN):c.62412C>T (p.Thr20804=)
|
|
|
|
NM_001267550.2(TTN):c.62514T>C (p.Asp20838=)
|
|
|
|
NM_001267550.2(TTN):c.62517G>A (p.Gly20839=)
|
|
|
|
NM_001267550.2(TTN):c.62550T>G (p.Ala20850=)
|
rs2154183630
|
|
|
NM_001267550.2(TTN):c.62592G>A (p.Lys20864=)
|
rs2154183596
|
|
|
NM_001267550.2(TTN):c.62610T>C (p.Asn20870=)
|
rs921573678
|
|
|
NM_001267550.2(TTN):c.62625T>C (p.Asp20875=)
|
|
|
|
NM_001267550.2(TTN):c.62643T>C (p.Cys20881=)
|
|
|
|
NM_001267550.2(TTN):c.62646T>C (p.Thr20882=)
|
|
|
|
NM_001267550.2(TTN):c.6264A>C (p.Thr2088=)
|
|
|
|
NM_001267550.2(TTN):c.62670T>C (p.Asp20890=)
|
|
|
|
NM_001267550.2(TTN):c.62682T>C (p.Cys20894=)
|
rs2154183521
|
|
|
NM_001267550.2(TTN):c.62688C>A (p.Ile20896=)
|
|
|
|
NM_001267550.2(TTN):c.62694T>C (p.Asn20898=)
|
rs778236151
|
|
|
NM_001267550.2(TTN):c.62697T>C (p.Tyr20899=)
|
rs1553640072
|
|
|
NM_001267550.2(TTN):c.6270C>T (p.Gly2090=)
|
|
|
|
NM_001267550.2(TTN):c.62715G>A (p.Glu20905=)
|
|
|
|
NM_001267550.2(TTN):c.62722C>A (p.Arg20908=)
|
|
|
|
NM_001267550.2(TTN):c.62745T>C (p.Ser20915=)
|
rs2154183484
|
|
|
NM_001267550.2(TTN):c.62766T>A (p.Gly20922=)
|
rs752423017
|
|
|
NM_001267550.2(TTN):c.62769T>A (p.Thr20923=)
|
|
|
|
NM_001267550.2(TTN):c.627G>A (p.Ser209=)
|
rs201942184
|
|
|
NM_001267550.2(TTN):c.627G>C (p.Ser209=)
|
|
|
|
NM_001267550.2(TTN):c.6282T>C (p.Asp2094=)
|
rs780645233
|
|
|
NM_001267550.2(TTN):c.62841G>A (p.Gly20947=)
|
rs774121638
|
|
|
NM_001267550.2(TTN):c.6285A>G (p.Ala2095=)
|
|
|
|
NM_001267550.2(TTN):c.62895T>C (p.Gly20965=)
|
rs2154183374
|
|
|
NM_001267550.2(TTN):c.6291C>T (p.Phe2097=)
|
rs2154345777
|
|
|
NM_001267550.2(TTN):c.62925A>G (p.Val20975=)
|
rs2049614682
|
|
|
NM_001267550.2(TTN):c.62937G>A (p.Glu20979=)
|
rs2049611289
|
|
|
NM_001267550.2(TTN):c.62946G>T (p.Val20982=)
|
|
|
|
NM_001267550.2(TTN):c.62955T>C (p.Asn20985=)
|
rs2154183334
|
|
|
NM_001267550.2(TTN):c.62976A>G (p.Gly20992=)
|
|
|
|
NM_001267550.2(TTN):c.62979G>A (p.Lys20993=)
|
rs775732427
|
|
|
NM_001267550.2(TTN):c.62982T>C (p.Ser20994=)
|
rs2154183318
|
|
|
NM_001267550.2(TTN):c.63036T>C (p.Pro21012=)
|
|
|
|
NM_001267550.2(TTN):c.6303C>A (p.Val2101=)
|
rs937168906
|
|
|
NM_001267550.2(TTN):c.6303C>T (p.Val2101=)
|
rs937168906
|
|
|
NM_001267550.2(TTN):c.63048T>C (p.Ser21016=)
|
rs2154183271
|
|
|
NM_001267550.2(TTN):c.63078G>A (p.Gln21026=)
|
rs1383048418
|
|
|
NM_001267550.2(TTN):c.63081T>C (p.Asn21027=)
|
|
|
|
NM_001267550.2(TTN):c.63084C>T (p.Leu21028=)
|
|
|
|
NM_001267550.2(TTN):c.63090A>G (p.Pro21030=)
|
rs2154183237
|
|
|
NM_001267550.2(TTN):c.63099A>G (p.Glu21033=)
|
|
|
|
NM_001267550.2(TTN):c.63108C>T (p.Phe21036=)
|
rs1031673060
|
|
|
NM_001267550.2(TTN):c.6312A>G (p.Lys2104=)
|
rs2154345768
|
|
|
NM_001267550.2(TTN):c.63138T>C (p.Ile21046=)
|
rs374466245
|
|
|
NM_001267550.2(TTN):c.63150C>T (p.Ser21050=)
|
rs879047866
|
|
|
NM_001267550.2(TTN):c.63153G>A (p.Leu21051=)
|
|
|
|
NM_001267550.2(TTN):c.6315A>C (p.Pro2105=)
|
rs1347825753
|
|
|
NM_001267550.2(TTN):c.63162A>G (p.Arg21054=)
|
rs1553639081
|
|
|
NM_001267550.2(TTN):c.63171G>A (p.Val21057=)
|
|
|
|
NM_001267550.2(TTN):c.63177A>G (p.Lys21059=)
|
|
|
|
NM_001267550.2(TTN):c.63187+18T>C
|
|
|
|
NM_001267550.2(TTN):c.63187+19T>G
|
|
|
|
NM_001267550.2(TTN):c.63188-10T>C
|
|
|
|
NM_001267550.2(TTN):c.63188-17_63188-12del
|
|
|
|
NM_001267550.2(TTN):c.63192A>G (p.Pro21064=)
|
rs2154182833
|
|
|
NM_001267550.2(TTN):c.63195T>A (p.Pro21065=)
|
|
|
|
NM_001267550.2(TTN):c.63210T>C (p.Asn21070=)
|
rs200578829
|
|
|
NM_001267550.2(TTN):c.6321C>T (p.Pro2107=)
|
rs766245195
|
|
|
NM_001267550.2(TTN):c.63222T>C (p.Val21074=)
|
rs2154182809
|
|
|
NM_001267550.2(TTN):c.63228A>T (p.Thr21076=)
|
|
|
|
NM_001267550.2(TTN):c.63246T>A (p.Thr21082=)
|
|
|
|
NM_001267550.2(TTN):c.63258A>G (p.Gly21086=)
|
rs956164243
|
|
|
NM_001267550.2(TTN):c.63294A>C (p.Gly21098=)
|
rs2154182736
|
|
|
NM_001267550.2(TTN):c.63300T>G (p.Val21100=)
|
rs2154182730
|
|
|
NM_001267550.2(TTN):c.6330A>G (p.Glu2110=)
|
|
|
|
NM_001267550.2(TTN):c.63333T>C (p.Ser21111=)
|
rs780374544
|
|
|
NM_001267550.2(TTN):c.63375T>A (p.Leu21125=)
|
|
|
|
NM_001267550.2(TTN):c.63375T>G (p.Leu21125=)
|
rs1451470128
|
|
|
NM_001267550.2(TTN):c.63408T>C (p.Asp21136=)
|
rs1047829961
|
|
|
NM_001267550.2(TTN):c.63450A>G (p.Gln21150=)
|
rs2049398530
|
|
|
NM_001267550.2(TTN):c.63465C>A (p.Arg21155=)
|
rs1576041891
|
|
|
NM_001267550.2(TTN):c.63468T>C (p.Pro21156=)
|
|
|
|
NM_001267550.2(TTN):c.63505C>T (p.Leu21169=)
|
rs543686186
|
|
|
NM_001267550.2(TTN):c.63508+12_63508+13dup
|
|
|
|
NM_001267550.2(TTN):c.63508+13C>T
|
|
|
|
NM_001267550.2(TTN):c.63508+17G>A
|
|
|
|
NM_001267550.2(TTN):c.63508+18C>A
|
|
|
|
NM_001267550.2(TTN):c.63508+19A>G
|
|
|
|
NM_001267550.2(TTN):c.63508+7C>A
|
rs2154182593
|
|
|
NM_001267550.2(TTN):c.63508+7C>T
|
rs2154182593
|
|
|
NM_001267550.2(TTN):c.63509-11G>A
|
rs2154182515
|
|
|
NM_001267550.2(TTN):c.63509-17C>T
|
rs1203307413
|
|
|
NM_001267550.2(TTN):c.63509-6T>C
|
|
|
|
NM_001267550.2(TTN):c.63522T>A (p.Ile21174=)
|
rs1576038931
|
|
|
NM_001267550.2(TTN):c.63552C>G (p.Val21184=)
|
|
|
|
NM_001267550.2(TTN):c.63561A>G (p.Arg21187=)
|
|
|
|
NM_001267550.2(TTN):c.6359G>T (p.Arg2120Leu)
|
rs141142920
|
|
|
NM_001267550.2(TTN):c.63601C>A (p.Arg21201=)
|
rs764243269
|
|
|
NM_001267550.2(TTN):c.63609C>T (p.Ala21203=)
|
rs774991215
|
|
|
NM_001267550.2(TTN):c.63625C>A (p.Arg21209=)
|
rs794729279
|
|
|
NM_001267550.2(TTN):c.63636C>T (p.Gly21212=)
|
|
|
|
NM_001267550.2(TTN):c.63663A>G (p.Gln21221=)
|
|
|
|
NM_001267550.2(TTN):c.63693T>C (p.Leu21231=)
|
|
|
|
NM_001267550.2(TTN):c.6369G>A (p.Arg2123=)
|
rs267599088
|
|
|
NM_001267550.2(TTN):c.6369G>T (p.Arg2123=)
|
|
|
|
NM_001267550.2(TTN):c.63714T>A (p.Arg21238=)
|
|
|
|
NM_001267550.2(TTN):c.63729A>G (p.Lys21243=)
|
rs2154182324
|
|
|
NM_001267550.2(TTN):c.63741A>T (p.Thr21247=)
|
|
|
|
NM_001267550.2(TTN):c.63753A>T (p.Pro21251=)
|
rs1245688306
|
|
|
NM_001267550.2(TTN):c.6375C>T (p.Tyr2125=)
|
rs2092122331
|
|
|
NM_001267550.2(TTN):c.63774C>T (p.Phe21258=)
|
|
|
|
NM_001267550.2(TTN):c.63780T>C (p.Asn21260=)
|
rs1238332140
|
|
|
NM_001267550.2(TTN):c.63793+8A>G
|
|
|
|
NM_001267550.2(TTN):c.63793+9C>T
|
|
|
|
NM_001267550.2(TTN):c.63794-19del
|
|
|
|
NM_001267550.2(TTN):c.63794-4A>T
|
rs2154182176
|
|
|
NM_001267550.2(TTN):c.63794-5T>A
|
rs767131398
|
|
|
NM_001267550.2(TTN):c.63794-8C>T
|
|
|
|
NM_001267550.2(TTN):c.63798T>C (p.Thr21266=)
|
|
|
|
NM_001267550.2(TTN):c.63810G>A (p.Val21270=)
|
rs1452090791
|
|
|
NM_001267550.2(TTN):c.63834C>T (p.Val21278=)
|
rs911870330
|
|
|
NM_001267550.2(TTN):c.63837T>G (p.Thr21279=)
|
rs749221889
|
|
|
NM_001267550.2(TTN):c.63897A>G (p.Thr21299=)
|
|
|
|
NM_001267550.2(TTN):c.63927C>T (p.Asp21309=)
|
|
|
|
NM_001267550.2(TTN):c.63945C>A (p.Thr21315=)
|
|
|
|
NM_001267550.2(TTN):c.63999G>A (p.Gly21333=)
|
|
|
|
NM_001267550.2(TTN):c.6399T>C (p.Val2133=)
|
rs2154345729
|
|
|
NM_001267550.2(TTN):c.64029C>G (p.Val21343=)
|
rs186381468
|
|
|
NM_001267550.2(TTN):c.64029C>T (p.Val21343=)
|
|
|
|
NM_001267550.2(TTN):c.64044T>C (p.Pro21348=)
|
rs2154181987
|
|
|
NM_001267550.2(TTN):c.64065A>C (p.Pro21355=)
|
|
|
|
NM_001267550.2(TTN):c.64074G>T (p.Val21358=)
|
rs2049193782
|
|
|
NM_001267550.2(TTN):c.64093+11T>C
|
|
|
|
NM_001267550.2(TTN):c.64093+12G>A
|
|
|
|
NM_001267550.2(TTN):c.64093+15T>C
|
rs1330809883
|
|
|
NM_001267550.2(TTN):c.64093+18T>C
|
|
|
|
NM_001267550.2(TTN):c.64093+19del
|
|
|
|
NM_001267550.2(TTN):c.64093+20C>G
|
|
|
|
NM_001267550.2(TTN):c.64093+20C>T
|
|
|
|
NM_001267550.2(TTN):c.64093+9T>C
|
rs750120832
|
|
|
NM_001267550.2(TTN):c.64094-13G>A
|
|
|
|
NM_001267550.2(TTN):c.64094-14T>C
|
rs544434918
|
|
|
NM_001267550.2(TTN):c.64094-15A>G
|
|
|
|
NM_001267550.2(TTN):c.64094-8T>C
|
|
|
|
NM_001267550.2(TTN):c.64117T>C (p.Leu21373=)
|
rs2154181610
|
|
|
NM_001267550.2(TTN):c.64152C>A (p.Thr21384=)
|
|
|
|
NM_001267550.2(TTN):c.64153T>C (p.Leu21385=)
|
|
|
|
NM_001267550.2(TTN):c.64158C>G (p.Ala21386=)
|
rs1060503926
|
|
|
NM_001267550.2(TTN):c.64170C>G (p.Pro21390=)
|
rs779586083
|
|
|
NM_001267550.2(TTN):c.64170C>T (p.Pro21390=)
|
|
|
|
NM_001267550.2(TTN):c.64179T>C (p.Asp21393=)
|
rs1576016824
|
|
|
NM_001267550.2(TTN):c.64185T>C (p.Gly21395=)
|
|
|
|
NM_001267550.2(TTN):c.64197T>C (p.Asp21399=)
|
|
|
|
NM_001267550.2(TTN):c.64200C>T (p.Gly21400=)
|
rs2154181567
|
|
|
NM_001267550.2(TTN):c.64221A>G (p.Glu21407=)
|
rs1553635514
|
|
|
NM_001267550.2(TTN):c.64233T>G (p.Pro21411=)
|
rs2049048163
|
|
|
NM_001267550.2(TTN):c.64242C>A (p.Arg21414=)
|
rs2154181537
|
|
|
NM_001267550.2(TTN):c.64272G>T (p.Leu21424=)
|
|
|
|
NM_001267550.2(TTN):c.64278T>G (p.Leu21426=)
|
|
|
|
NM_001267550.2(TTN):c.64291C>T (p.Leu21431=)
|
|
|
|
NM_001267550.2(TTN):c.64314A>G (p.Lys21438=)
|
rs2154181500
|
|
|
NM_001267550.2(TTN):c.64344A>G (p.Gly21448=)
|
|
|
|
NM_001267550.2(TTN):c.64396+14G>C
|
|
|
|
NM_001267550.2(TTN):c.64396+15C>T
|
|
|
|
NM_001267550.2(TTN):c.64396+19A>G
|
|
|
|
NM_001267550.2(TTN):c.64396+9T>C
|
|
|
|
NM_001267550.2(TTN):c.64397-13A>G
|
|
|
|
NM_001267550.2(TTN):c.64397-19C>A
|
|
|
|
NM_001267550.2(TTN):c.64397-20T>C
|
|
|
|
NM_001267550.2(TTN):c.64397-9T>G
|
rs2154180463
|
|
|
NM_001267550.2(TTN):c.6441C>T (p.Ala2147=)
|
rs2092111862
|
|
|
NM_001267550.2(TTN):c.64461A>G (p.Glu21487=)
|
rs2048679694
|
|
|
NM_001267550.2(TTN):c.64473T>C (p.Tyr21491=)
|
|
|
|
NM_001267550.2(TTN):c.6453A>G (p.Val2151=)
|
|
|
|
NM_001267550.2(TTN):c.64545G>A (p.Val21515=)
|
rs2154180366
|
|
|
NM_001267550.2(TTN):c.64548T>C (p.His21516=)
|
rs878894570
|
|
|
NM_001267550.2(TTN):c.64590T>C (p.Thr21530=)
|
|
|
|
NM_001267550.2(TTN):c.64593G>A (p.Arg21531=)
|
|
|
|
NM_001267550.2(TTN):c.64596A>G (p.Lys21532=)
|
|
|
|
NM_001267550.2(TTN):c.64632T>C (p.Ser21544=)
|
rs2154180316
|
|
|
NM_001267550.2(TTN):c.64638G>C (p.Gly21546=)
|
rs2154180312
|
|
|
NM_001267550.2(TTN):c.64672+11T>A
|
rs752070307
|
|
|
NM_001267550.2(TTN):c.64672+18C>T
|
|
|
|
NM_001267550.2(TTN):c.64673-11G>C
|
|
|
|
NM_001267550.2(TTN):c.64673-14C>T
|
|
|
|
NM_001267550.2(TTN):c.64674T>C (p.Asp21558=)
|
|
|
|
NM_001267550.2(TTN):c.64680C>T (p.Pro21560=)
|
rs1274370581
|
|
|
NM_001267550.2(TTN):c.64683C>A (p.Gly21561=)
|
|
|
|
NM_001267550.2(TTN):c.64683C>G (p.Gly21561=)
|
rs542156552
|
|
|
NM_001267550.2(TTN):c.64683C>T (p.Gly21561=)
|
rs542156552
|
|
|
NM_001267550.2(TTN):c.64686C>A (p.Pro21562=)
|
|
|
|
NM_001267550.2(TTN):c.64689T>A (p.Pro21563=)
|
rs1575983572
|
|
|
NM_001267550.2(TTN):c.64698A>G (p.Pro21566=)
|
rs1060503935
|
|
|
NM_001267550.2(TTN):c.64698A>T (p.Pro21566=)
|
rs1060503935
|
|
|
NM_001267550.2(TTN):c.64749C>T (p.Ile21583=)
|
rs2048582964
|
|
|
NM_001267550.2(TTN):c.64752T>C (p.Pro21584=)
|
|
|
|
NM_001267550.2(TTN):c.6480C>T (p.Thr2160=)
|
|
|
|
NM_001267550.2(TTN):c.64836T>C (p.Ala21612=)
|
rs2154180096
|
|
|
NM_001267550.2(TTN):c.64851T>C (p.Thr21617=)
|
rs1553632924
|
|
|
NM_001267550.2(TTN):c.64875C>A (p.Ile21625=)
|
rs907125933
|
|
|
NM_001267550.2(TTN):c.64884G>A (p.Gln21628=)
|
rs772347925
|
|
|
NM_001267550.2(TTN):c.64893C>T (p.Ile21631=)
|
rs2154180065
|
|
|
NM_001267550.2(TTN):c.64899G>C (p.Arg21633=)
|
rs2154180058
|
|
|
NM_001267550.2(TTN):c.64908T>A (p.Ala21636=)
|
|
|
|
NM_001267550.2(TTN):c.64917A>T (p.Arg21639=)
|
rs2048555376
|
|
|
NM_001267550.2(TTN):c.64938C>G (p.Leu21646=)
|
|
|
|
NM_001267550.2(TTN):c.64941A>G (p.Thr21647=)
|
|
|
|
NM_001267550.2(TTN):c.64956T>A (p.Val21652=)
|
rs2154180021
|
|
|
NM_001267550.2(TTN):c.64956T>C (p.Val21652=)
|
|
|
|
NM_001267550.2(TTN):c.64972+10T>G
|
|
|
|
NM_001267550.2(TTN):c.64972+11G>A
|
|
|
|
NM_001267550.2(TTN):c.64972+15del
|
rs878936145
|
|
|
NM_001267550.2(TTN):c.64972+20A>C
|
|
|
|
NM_001267550.2(TTN):c.64972+20A>G
|
rs2154179985
|
|
|
NM_001267550.2(TTN):c.64989A>G (p.Pro21663=)
|
|
|
|
NM_001267550.2(TTN):c.64998A>G (p.Ala21666=)
|
rs876657612
|
|
|
NM_001267550.2(TTN):c.6504C>T (p.Val2168=)
|
|
|
|
NM_001267550.2(TTN):c.65055T>C (p.Ser21685=)
|
|
|
|
NM_001267550.2(TTN):c.65064G>T (p.Gly21688=)
|
|
|
|
NM_001267550.2(TTN):c.6508+11T>A
|
|
|
|
NM_001267550.2(TTN):c.6508+13T>C
|
|
|
|
NM_001267550.2(TTN):c.6508+14C>A
|
rs771328770
|
|
|
NM_001267550.2(TTN):c.6508+14C>G
|
|
|
|
NM_001267550.2(TTN):c.6509-10T>C
|
|
|
|
NM_001267550.2(TTN):c.6509-16C>T
|
|
|
|
NM_001267550.2(TTN):c.6509-20C>T
|
|
|
|
NM_001267550.2(TTN):c.65112G>A (p.Leu21704=)
|
rs2048484335
|
|
|
NM_001267550.2(TTN):c.65115G>C (p.Leu21705=)
|
rs1449900594
|
|
|
NM_001267550.2(TTN):c.65142C>G (p.Val21714=)
|
rs1575973571
|
|
|
NM_001267550.2(TTN):c.65145G>C (p.Arg21715=)
|
|
|
|
NM_001267550.2(TTN):c.6517T>C (p.Leu2173=)
|
rs760798049
|
|
|
NM_001267550.2(TTN):c.65187G>A (p.Glu21729=)
|
rs397517660
|
|
|
NM_001267550.2(TTN):c.65193A>G (p.Ser21731=)
|
|
|
|
NM_001267550.2(TTN):c.65193A>T (p.Ser21731=)
|
|
|
|
NM_001267550.2(TTN):c.65205T>C (p.Tyr21735=)
|
|
|
|
NM_001267550.2(TTN):c.65244C>T (p.Pro21748=)
|
|
|
|
NM_001267550.2(TTN):c.65253T>C (p.Tyr21751=)
|
rs2048453002
|
|
|
NM_001267550.2(TTN):c.65275+20T>A
|
|
|
|
NM_001267550.2(TTN):c.65276-16C>A
|
rs370634364
|
|
|
NM_001267550.2(TTN):c.65276-18T>A
|
|
|
|
NM_001267550.2(TTN):c.65276-19G>A
|
|
|
|
NM_001267550.2(TTN):c.65276-6T>A
|
|
|
|
NM_001267550.2(TTN):c.65276-7_65276-4del
|
|
|
|
NM_001267550.2(TTN):c.65276-8T>G
|
rs377484398
|
|
|
NM_001267550.2(TTN):c.65280T>G (p.Pro21760=)
|
|
|
|
NM_001267550.2(TTN):c.65289A>G (p.Lys21763=)
|
|
|
|
NM_001267550.2(TTN):c.65301T>C (p.Ile21767=)
|
rs2154179311
|
|
|
NM_001267550.2(TTN):c.65370T>C (p.Ile21790=)
|
|
|
|
NM_001267550.2(TTN):c.65394A>G (p.Lys21798=)
|
|
|
|
NM_001267550.2(TTN):c.65403T>C (p.Gly21801=)
|
|
|
|
NM_001267550.2(TTN):c.65418G>A (p.Arg21806=)
|
rs1428029274
|
|
|
NM_001267550.2(TTN):c.65427T>C (p.Thr21809=)
|
|
|
|
NM_001267550.2(TTN):c.65439G>A (p.Gln21813=)
|
|
|
|
NM_001267550.2(TTN):c.654A>G (p.Gln218=)
|
rs1158294800
|
|
|
NM_001267550.2(TTN):c.65514C>G (p.Thr21838=)
|
rs372543748
|
|
|
NM_001267550.2(TTN):c.65517G>A (p.Ala21839=)
|
rs1390911668
|
|
|
NM_001267550.2(TTN):c.65529C>T (p.Ser21843=)
|
|
|
|
NM_001267550.2(TTN):c.65535T>A (p.Pro21845=)
|
rs2048282152
|
|
|
NM_001267550.2(TTN):c.65550T>C (p.Asp21850=)
|
rs1225676335
|
|
|
NM_001267550.2(TTN):c.65562C>A (p.Ile21854=)
|
rs1575958372
|
|
|
NM_001267550.2(TTN):c.65575+13T>A
|
|
|
|
NM_001267550.2(TTN):c.65575+16G>A
|
|
|
|
NM_001267550.2(TTN):c.65575+7T>C
|
rs2048271692
|
|
|
NM_001267550.2(TTN):c.65576-13T>G
|
|
|
|
NM_001267550.2(TTN):c.65576-15_65576-11del
|
rs1064795987
|
|
|
NM_001267550.2(TTN):c.65576-18T>A
|
|
|
|
NM_001267550.2(TTN):c.65580T>C (p.Pro21860=)
|
rs922548535
|
|
|
NM_001267550.2(TTN):c.65583C>A (p.Pro21861=)
|
|
|
|
NM_001267550.2(TTN):c.65655T>C (p.Ala21885=)
|
rs2154178750
|
|
|
NM_001267550.2(TTN):c.6567C>T (p.Asp2189=)
|
rs879111475
|
|
|
NM_001267550.2(TTN):c.65682A>C (p.Thr21894=)
|
rs4894029
|
|
|
NM_001267550.2(TTN):c.65710C>T (p.Leu21904=)
|
rs2048143083
|
|
|
NM_001267550.2(TTN):c.65712A>G (p.Leu21904=)
|
|
|
|
NM_001267550.2(TTN):c.65718A>G (p.Pro21906=)
|
|
|
|
NM_001267550.2(TTN):c.65724A>G (p.Glu21908=)
|
|
|
|
NM_001267550.2(TTN):c.65739C>T (p.Ala21913=)
|
rs1284931621
|
|
|
NM_001267550.2(TTN):c.65748G>A (p.Arg21916=)
|
|
|
|
NM_001267550.2(TTN):c.65769A>C (p.Leu21923=)
|
|
|
|
NM_001267550.2(TTN):c.6579C>A (p.Thr2193=)
|
|
|
|
NM_001267550.2(TTN):c.6579C>G (p.Thr2193=)
|
rs1574640695
|
|
|
NM_001267550.2(TTN):c.657C>G (p.Thr219=)
|
rs979222061
|
|
|
NM_001267550.2(TTN):c.65814T>C (p.Ala21938=)
|
rs2154178636
|
|
|
NM_001267550.2(TTN):c.65829T>C (p.Gly21943=)
|
rs1575945587
|
|
|
NM_001267550.2(TTN):c.65859G>A (p.Val21953=)
|
|
|
|
NM_001267550.2(TTN):c.65863+10A>C
|
rs2154178608
|
|
|
NM_001267550.2(TTN):c.65863+13C>T
|
rs2154178607
|
|
|
NM_001267550.2(TTN):c.65863+17A>T
|
|
|
|
NM_001267550.2(TTN):c.65864-13C>G
|
|
|
|
NM_001267550.2(TTN):c.65864-17C>T
|
|
|
|
NM_001267550.2(TTN):c.65864-9T>C
|
|
|
|
NM_001267550.2(TTN):c.65883A>C (p.Ala21961=)
|
|
|
|
NM_001267550.2(TTN):c.65889T>C (p.Val21963=)
|
rs2154178277
|
|
|
NM_001267550.2(TTN):c.65913T>C (p.Asp21971=)
|
rs1313945258
|
|
|
NM_001267550.2(TTN):c.65955C>A (p.Gly21985=)
|
|
|
|
NM_001267550.2(TTN):c.65979T>C (p.Val21993=)
|
|
|
|
NM_001267550.2(TTN):c.6597A>C (p.Ser2199=)
|
|
|
|
NM_001267550.2(TTN):c.66012T>C (p.Ala22004=)
|
|
|
|
NM_001267550.2(TTN):c.66024A>C (p.Ala22008=)
|
|
|
|
NM_001267550.2(TTN):c.66027T>G (p.Thr22009=)
|
rs1553628094
|
|
|
NM_001267550.2(TTN):c.66042C>T (p.Ser22014=)
|
|
|
|
NM_001267550.2(TTN):c.66054G>A (p.Glu22018=)
|
rs727503579
|
|
|
NM_001267550.2(TTN):c.66060T>C (p.Leu22020=)
|
rs1575934707
|
|
|
NM_001267550.2(TTN):c.66075G>A (p.Glu22025=)
|
|
|
|
NM_001267550.2(TTN):c.66084C>T (p.Phe22028=)
|
|
|
|
NM_001267550.2(TTN):c.66090T>C (p.Ile22030=)
|
rs2154178119
|
|
|
NM_001267550.2(TTN):c.66099A>G (p.Glu22033=)
|
|
|
|
NM_001267550.2(TTN):c.6609C>G (p.Val2203=)
|
rs2092059385
|
|
|
NM_001267550.2(TTN):c.66108T>C (p.Tyr22036=)
|
rs2154178109
|
|
|
NM_001267550.2(TTN):c.66111A>T (p.Gly22037=)
|
rs1400343393
|
|
|
NM_001267550.2(TTN):c.6615G>T (p.Val2205=)
|
rs2154345516
|
|
|
NM_001267550.2(TTN):c.66160+10T>C
|
|
|
|
NM_001267550.2(TTN):c.66161-12_66161-9del
|
rs758125069
|
|
|
NM_001267550.2(TTN):c.66161-18T>C
|
|
|
|
NM_001267550.2(TTN):c.66189T>C (p.Val22063=)
|
rs985631959
|
|
|
NM_001267550.2(TTN):c.66231G>A (p.Lys22077=)
|
|
|
|
NM_001267550.2(TTN):c.66237A>G (p.Pro22079=)
|
rs2154177912
|
|
|
NM_001267550.2(TTN):c.6624T>C (p.Tyr2208=)
|
|
|
|
NM_001267550.2(TTN):c.66291C>T (p.Thr22097=)
|
rs2154177874
|
|
|
NM_001267550.2(TTN):c.66342A>G (p.Thr22114=)
|
rs2154177840
|
|
|
NM_001267550.2(TTN):c.66345A>G (p.Leu22115=)
|
rs371010572
|
|
|
NM_001267550.2(TTN):c.66372C>A (p.Thr22124=)
|
rs756981729
|
|
|
NM_001267550.2(TTN):c.66429C>T (p.Asp22143=)
|
rs1367041984
|
|
|
NM_001267550.2(TTN):c.66444T>A (p.Ala22148=)
|
|
|
|
NM_001267550.2(TTN):c.66453G>C (p.Arg22151=)
|
|
|
|
NM_001267550.2(TTN):c.6645T>C (p.His2215=)
|
|
|
|
NM_001267550.2(TTN):c.66463+11A>G
|
|
|
|
NM_001267550.2(TTN):c.66463+16C>T
|
|
|
|
NM_001267550.2(TTN):c.66463+17G>C
|
rs202244470
|
|
|
NM_001267550.2(TTN):c.66463+7G>A
|
|
|
|
NM_001267550.2(TTN):c.66464-12_66464-10del
|
rs763631224
|
|
|
NM_001267550.2(TTN):c.66464-19T>C
|
|
|
|
NM_001267550.2(TTN):c.66468T>C (p.Pro22156=)
|
|
|
|
NM_001267550.2(TTN):c.66495A>G (p.Val22165=)
|
|
|
|
NM_001267550.2(TTN):c.66498T>C (p.Tyr22166=)
|
rs751453460
|
|
|
NM_001267550.2(TTN):c.66501T>C (p.Asp22167=)
|
|
|
|
NM_001267550.2(TTN):c.66510C>G (p.Arg22170=)
|
rs776844441
|
|
|
NM_001267550.2(TTN):c.66510C>T (p.Arg22170=)
|
|
|
|
NM_001267550.2(TTN):c.66519G>A (p.Val22173=)
|
rs2154177572
|
|
|
NM_001267550.2(TTN):c.66528T>C (p.Ser22176=)
|
rs1553626322
|
|
|
NM_001267550.2(TTN):c.66528T>G (p.Ser22176=)
|
rs1553626322
|
|
|
NM_001267550.2(TTN):c.66561T>C (p.Pro22187=)
|
rs1553626182
|
|
|
NM_001267550.2(TTN):c.66564C>T (p.Ile22188=)
|
rs1060503940
|
|
|
NM_001267550.2(TTN):c.66606C>T (p.Asn22202=)
|
rs1224096976
|
|
|
NM_001267550.2(TTN):c.6660C>T (p.Tyr2220=)
|
rs72647880
|
|
|
NM_001267550.2(TTN):c.66613A>C (p.Arg22205=)
|
rs2154177476
|
|
|
NM_001267550.2(TTN):c.66615G>A (p.Arg22205=)
|
|
|
|
NM_001267550.2(TTN):c.66624A>G (p.Leu22208=)
|
rs2047769242
|
|
|
NM_001267550.2(TTN):c.66633T>C (p.Asn22211=)
|
|
|
|
NM_001267550.2(TTN):c.6663G>A (p.Arg2221=)
|
rs2154345485
|
|
|
NM_001267550.2(TTN):c.66645C>T (p.Thr22215=)
|
|
|
|
NM_001267550.2(TTN):c.66678A>G (p.Thr22226=)
|
|
|
|
NM_001267550.2(TTN):c.66693T>C (p.Arg22231=)
|
|
|
|
NM_001267550.2(TTN):c.66699T>C (p.Tyr22233=)
|
|
|
|
NM_001267550.2(TTN):c.66702C>A (p.Ala22234=)
|
|
|
|
NM_001267550.2(TTN):c.66708T>C (p.Asn22236=)
|
|
|
|
NM_001267550.2(TTN):c.66720C>T (p.Tyr22240=)
|
rs2154177399
|
|
|
NM_001267550.2(TTN):c.66726C>T (p.Asp22242=)
|
rs879057314
|
|
|
NM_001267550.2(TTN):c.66738G>A (p.Val22246=)
|
|
|
|
NM_001267550.2(TTN):c.66756C>T (p.Pro22252=)
|
|
|
|
NM_001267550.2(TTN):c.66762C>T (p.Asp22254=)
|
rs1178308561
|
|
|
NM_001267550.2(TTN):c.66769+13del
|
|
|
|
NM_001267550.2(TTN):c.66769+7A>G
|
rs2154177362
|
|
|
NM_001267550.2(TTN):c.66770-13C>T
|
|
|
|
NM_001267550.2(TTN):c.66771T>C (p.Ile22257=)
|
|
|
|
NM_001267550.2(TTN):c.66792T>C (p.Asp22264=)
|
rs1575895118
|
|
|
NM_001267550.2(TTN):c.66807G>A (p.Lys22269=)
|
|
|
|
NM_001267550.2(TTN):c.66810A>C (p.Thr22270=)
|
rs574823514
|
|
|
NM_001267550.2(TTN):c.66817T>C (p.Leu22273=)
|
rs1031785054
|
|
|
NM_001267550.2(TTN):c.66822T>A (p.Arg22274=)
|
|
|
|
NM_001267550.2(TTN):c.66834T>C (p.Thr22278=)
|
rs747287135
|
|
|
NM_001267550.2(TTN):c.66841C>T (p.Leu22281=)
|
rs1160883088
|
|
|
NM_001267550.2(TTN):c.66867A>G (p.Pro22289=)
|
|
|
|
NM_001267550.2(TTN):c.6687C>T (p.His2229=)
|
rs1574639027
|
|
|
NM_001267550.2(TTN):c.669+14C>T
|
|
|
|
NM_001267550.2(TTN):c.669+17T>C
|
|
|
|
NM_001267550.2(TTN):c.66900C>T (p.Val22300=)
|
|
|
|
NM_001267550.2(TTN):c.66918T>A (p.Ile22306=)
|
|
|
|
NM_001267550.2(TTN):c.66921A>G (p.Gly22307=)
|
|
|
|
NM_001267550.2(TTN):c.66957G>A (p.Leu22319=)
|
rs1060503928
|
|
|
NM_001267550.2(TTN):c.66981T>C (p.Tyr22327=)
|
|
|
|
NM_001267550.2(TTN):c.66984T>C (p.Asp22328=)
|
rs778439748
|
|
|
NM_001267550.2(TTN):c.66987A>C (p.Ala22329=)
|
|
|
|
NM_001267550.2(TTN):c.66990A>C (p.Gly22330=)
|
rs756485222
|
|
|
NM_001267550.2(TTN):c.670-10T>A
|
|
|
|
NM_001267550.2(TTN):c.670-14T>G
|
|
|
|
NM_001267550.2(TTN):c.670-17G>A
|
|
|
|
NM_001267550.2(TTN):c.67008G>A (p.Leu22336=)
|
|
|
|
NM_001267550.2(TTN):c.6700C>T (p.Leu2234=)
|
rs766750289
|
|
|
NM_001267550.2(TTN):c.67035T>C (p.Tyr22345=)
|
rs2154176287
|
|
|
NM_001267550.2(TTN):c.67053G>A (p.Val22351=)
|
rs886038717
|
|
|
NM_001267550.2(TTN):c.67057+15A>C
|
rs543264841
|
|
|
NM_001267550.2(TTN):c.67057+19A>G
|
|
|
|
NM_001267550.2(TTN):c.67058-16_67058-15delinsAA
|
|
|
|
NM_001267550.2(TTN):c.67058-19T>C
|
|
|
|
NM_001267550.2(TTN):c.6705C>T (p.Thr2235=)
|
|
|
|
NM_001267550.2(TTN):c.67062T>C (p.Thr22354=)
|
rs1553623646
|
|
|
NM_001267550.2(TTN):c.67110T>C (p.Ser22370=)
|
rs1288931485
|
|
|
NM_001267550.2(TTN):c.67113T>A (p.Ala22371=)
|
|
|
|
NM_001267550.2(TTN):c.67116T>C (p.Tyr22372=)
|
|
|
|
NM_001267550.2(TTN):c.67134C>G (p.Pro22378=)
|
rs2154176100
|
|
|
NM_001267550.2(TTN):c.6714G>T (p.Thr2238=)
|
rs774836314
|
|
|
NM_001267550.2(TTN):c.67167T>C (p.Tyr22389=)
|
|
|
|
NM_001267550.2(TTN):c.6720T>C (p.Asp2240=)
|
rs149404931
|
|
|
NM_001267550.2(TTN):c.67224C>T (p.Cys22408=)
|
|
|
|
NM_001267550.2(TTN):c.6723T>C (p.Ala2241=)
|
|
|
|
NM_001267550.2(TTN):c.67266A>G (p.Lys22422=)
|
|
|
|
NM_001267550.2(TTN):c.67272C>T (p.Tyr22424=)
|
|
|
|
NM_001267550.2(TTN):c.67278C>T (p.Phe22426=)
|
rs1575882077
|
|
|
NM_001267550.2(TTN):c.67302T>C (p.Tyr22434=)
|
|
|
|
NM_001267550.2(TTN):c.67348+15C>T
|
|
|
|
NM_001267550.2(TTN):c.67348+19A>G
|
|
|
|
NM_001267550.2(TTN):c.67349-11C>T
|
|
|
|
NM_001267550.2(TTN):c.67349-18A>G
|
|
|
|
NM_001267550.2(TTN):c.67349-18A>T
|
|
|
|
NM_001267550.2(TTN):c.67349-20T>C
|
|
|
|
NM_001267550.2(TTN):c.67359A>G (p.Gly22453=)
|
|
|
|
NM_001267550.2(TTN):c.6741A>G (p.Val2247=)
|
rs2154345429
|
|
|
NM_001267550.2(TTN):c.67446G>A (p.Arg22482=)
|
rs2154175758
|
|
|
NM_001267550.2(TTN):c.67458T>C (p.Tyr22486=)
|
|
|
|
NM_001267550.2(TTN):c.67485T>C (p.Asn22495=)
|
rs2154175738
|
|
|
NM_001267550.2(TTN):c.67488G>A (p.Lys22496=)
|
rs2154175733
|
|
|
NM_001267550.2(TTN):c.67495C>A (p.Arg22499=)
|
|
|
|
NM_001267550.2(TTN):c.6750A>G (p.Glu2250=)
|
|
|
|
NM_001267550.2(TTN):c.67548G>A (p.Gly22516=)
|
rs1437157451
|
|
|
NM_001267550.2(TTN):c.67557T>C (p.Tyr22519=)
|
|
|
|
NM_001267550.2(TTN):c.67575T>A (p.Ala22525=)
|
|
|
|
NM_001267550.2(TTN):c.67575T>G (p.Ala22525=)
|
rs755060136
|
|
|
NM_001267550.2(TTN):c.67587T>C (p.Asn22529=)
|
rs1057523544
|
|
|
NM_001267550.2(TTN):c.67605C>T (p.Ser22535=)
|
rs750847940
|
|
|
NM_001267550.2(TTN):c.67614T>C (p.Thr22538=)
|
rs1180310461
|
|
|
NM_001267550.2(TTN):c.67620G>A (p.Val22540=)
|
|
|
|
NM_001267550.2(TTN):c.67636+12T>C
|
|
|
|
NM_001267550.2(TTN):c.67636+12T>G
|
|
|
|
NM_001267550.2(TTN):c.67636+17A>C
|
|
|
|
NM_001267550.2(TTN):c.67636+19A>G
|
|
|
|
NM_001267550.2(TTN):c.67637-14C>G
|
|
|
|
NM_001267550.2(TTN):c.67637-19del
|
|
|
|
NM_001267550.2(TTN):c.67637-20T>C
|
|
|
|
NM_001267550.2(TTN):c.67637-8T>C
|
|
|
|
NM_001267550.2(TTN):c.67653C>T (p.Asp22551=)
|
|
|
|
NM_001267550.2(TTN):c.67665A>G (p.Leu22555=)
|
|
|
|
NM_001267550.2(TTN):c.6768G>A (p.Thr2256=)
|
rs886055302
|
|
|
NM_001267550.2(TTN):c.67707G>C (p.Arg22569=)
|
|
|
|
NM_001267550.2(TTN):c.67716C>A (p.Ile22572=)
|
rs754283751
|
|
|
NM_001267550.2(TTN):c.67716C>T (p.Ile22572=)
|
rs754283751
|
|
|
NM_001267550.2(TTN):c.6771T>C (p.Thr2257=)
|
rs1351771674
|
|
|
NM_001267550.2(TTN):c.67782C>T (p.Asp22594=)
|
rs1575865334
|
|
|
NM_001267550.2(TTN):c.67794T>C (p.Ser22598=)
|
rs960274505
|
|
|
NM_001267550.2(TTN):c.67800G>A (p.Glu22600=)
|
|
|
|
NM_001267550.2(TTN):c.67836T>C (p.Asp22612=)
|
rs1375493430
|
|
|
NM_001267550.2(TTN):c.67839C>T (p.Cys22613=)
|
rs2154175290
|
|
|
NM_001267550.2(TTN):c.67854T>C (p.Ala22618=)
|
|
|
|
NM_001267550.2(TTN):c.67866A>C (p.Thr22622=)
|
rs1559485882
|
|
|
NM_001267550.2(TTN):c.67887T>G (p.Ala22629=)
|
rs2154175252
|
|
|
NM_001267550.2(TTN):c.6790+14A>G
|
|
|
|
NM_001267550.2(TTN):c.6790+15A>G
|
|
|
|
NM_001267550.2(TTN):c.6790+17G>A
|
|
|
|
NM_001267550.2(TTN):c.67905T>G (p.Thr22635=)
|
rs2154175245
|
|
|
NM_001267550.2(TTN):c.6791-6C>T
|
|
|
|
NM_001267550.2(TTN):c.67932T>A (p.Pro22644=)
|
rs2154175212
|
|
|
NM_001267550.2(TTN):c.67962T>C (p.Asp22654=)
|
rs779729130
|
|
|
NM_001267550.2(TTN):c.67965A>G (p.Glu22655=)
|
rs2154175172
|
|
|
NM_001267550.2(TTN):c.67971A>G (p.Thr22657=)
|
rs2154175166
|
|
|
NM_001267550.2(TTN):c.67977A>G (p.Glu22659=)
|
|
|
|
NM_001267550.2(TTN):c.67980C>G (p.Ala22660=)
|
rs756764696
|
|
|
NM_001267550.2(TTN):c.68034C>T (p.Asn22678=)
|
rs1553620816
|
|
|
NM_001267550.2(TTN):c.68043A>G (p.Leu22681=)
|
|
|
|
NM_001267550.2(TTN):c.68061G>C (p.Val22687=)
|
|
|
|
NM_001267550.2(TTN):c.68091T>C (p.Ala22697=)
|
|
|
|
NM_001267550.2(TTN):c.68163A>G (p.Glu22721=)
|
|
|
|
NM_001267550.2(TTN):c.68169A>G (p.Lys22723=)
|
|
|
|
NM_001267550.2(TTN):c.68172T>C (p.Tyr22724=)
|
|
|
|
NM_001267550.2(TTN):c.68220A>G (p.Pro22740=)
|
|
|
|
NM_001267550.2(TTN):c.68224+12A>G
|
|
|
|
NM_001267550.2(TTN):c.68225-10T>C
|
rs1378546349
|
|
|
NM_001267550.2(TTN):c.68225-12A>G
|
|
|
|
NM_001267550.2(TTN):c.68225-15T>C
|
|
|
|
NM_001267550.2(TTN):c.68225-18T>C
|
rs1416277306
|
|
|
NM_001267550.2(TTN):c.68225-6T>A
|
|
|
|
NM_001267550.2(TTN):c.68225-8T>C
|
|
|
|
NM_001267550.2(TTN):c.68229G>C (p.Val22743=)
|
|
|
|
NM_001267550.2(TTN):c.68229G>T (p.Val22743=)
|
|
|
|
NM_001267550.2(TTN):c.68232T>C (p.Pro22744=)
|
|
|
|
NM_001267550.2(TTN):c.68235T>C (p.Asp22745=)
|
rs757244505
|
|
|
NM_001267550.2(TTN):c.68262T>C (p.Asp22754=)
|
rs2047008596
|
|
|
NM_001267550.2(TTN):c.68266A>C (p.Arg22756=)
|
rs2154174824
|
|
|
NM_001267550.2(TTN):c.68271C>T (p.His22757=)
|
rs750271244
|
|
|
NM_001267550.2(TTN):c.68310T>C (p.Thr22770=)
|
|
|
|
NM_001267550.2(TTN):c.68329+11T>A
|
|
|
|
NM_001267550.2(TTN):c.68329+8G>T
|
rs1026061408
|
|
|
NM_001267550.2(TTN):c.68330-11del
|
rs1004563596
|
|
|
NM_001267550.2(TTN):c.68330-26_68330-20del
|
|
|
|
NM_001267550.2(TTN):c.68343G>A (p.Glu22781=)
|
rs2154174325
|
|
|
NM_001267550.2(TTN):c.68349G>A (p.Lys22783=)
|
rs2154174322
|
|
|
NM_001267550.2(TTN):c.6834T>A (p.Val2278=)
|
rs2154345150
|
|
|
NM_001267550.2(TTN):c.68364T>G (p.Leu22788=)
|
rs1186888314
|
|
|
NM_001267550.2(TTN):c.68365T>C (p.Leu22789=)
|
rs933098534
|
|
|
NM_001267550.2(TTN):c.68379T>C (p.Ala22793=)
|
rs727503574
|
|
|
NM_001267550.2(TTN):c.68385G>A (p.Lys22795=)
|
rs2154174301
|
|
|
NM_001267550.2(TTN):c.68394A>T (p.Ile22798=)
|
rs2046857327
|
|
|
NM_001267550.2(TTN):c.68409T>C (p.Phe22803=)
|
|
|
|
NM_001267550.2(TTN):c.68418A>G (p.Thr22806=)
|
rs2154174268
|
|
|
NM_001267550.2(TTN):c.6843A>G (p.Ser2281=)
|
|
|
|
NM_001267550.2(TTN):c.6846T>C (p.Tyr2282=)
|
|
|
|
NM_001267550.2(TTN):c.68475T>C (p.Gly22825=)
|
|
|
|
NM_001267550.2(TTN):c.68520C>T (p.Asp22840=)
|
|
|
|
NM_001267550.2(TTN):c.68527+10T>C
|
|
|
|
NM_001267550.2(TTN):c.68527+10_68527+12del
|
rs762941263
|
|
|
NM_001267550.2(TTN):c.68527+11A>G
|
|
|
|
NM_001267550.2(TTN):c.68527+9T>C
|
rs1243700242
|
|
|
NM_001267550.2(TTN):c.68528-14C>G
|
|
|
|
NM_001267550.2(TTN):c.68547G>A (p.Glu22849=)
|
|
|
|
NM_001267550.2(TTN):c.68568T>C (p.Asn22856=)
|
|
|
|
NM_001267550.2(TTN):c.6858A>G (p.Leu2286=)
|
rs141920643
|
|
|
NM_001267550.2(TTN):c.68595T>C (p.Pro22865=)
|
|
|
|
NM_001267550.2(TTN):c.68601T>C (p.Tyr22867=)
|
|
|
|
NM_001267550.2(TTN):c.68604C>T (p.Asp22868=)
|
rs750368181
|
|
|
NM_001267550.2(TTN):c.68616G>A (p.Lys22872=)
|
rs759830525
|
|
|
NM_001267550.2(TTN):c.68631A>C (p.Ile22877=)
|
rs776873491
|
|
|
NM_001267550.2(TTN):c.68655G>A (p.Ser22885=)
|
|
|
|
NM_001267550.2(TTN):c.68676C>T (p.Asn22892=)
|
|
|
|
NM_001267550.2(TTN):c.68679T>C (p.His22893=)
|
rs542813165
|
|
|
NM_001267550.2(TTN):c.68682T>G (p.Val22894=)
|
rs1304622611
|
|
|
NM_001267550.2(TTN):c.6870A>C (p.Val2290=)
|
rs143578117
|
|
|
NM_001267550.2(TTN):c.6870A>G (p.Val2290=)
|
rs143578117
|
|
|
NM_001267550.2(TTN):c.6870A>T (p.Val2290=)
|
|
|
|
NM_001267550.2(TTN):c.68760T>C (p.Asn22920=)
|
|
|
|
NM_001267550.2(TTN):c.68762C>T (p.Thr22921Ile)
|
rs534567766
|
|
|
NM_001267550.2(TTN):c.68784A>G (p.Pro22928=)
|
rs2154173941
|
|
|
NM_001267550.2(TTN):c.68787A>G (p.Ser22929=)
|
rs2154173938
|
|
|
NM_001267550.2(TTN):c.68824+13T>G
|
|
|
|
NM_001267550.2(TTN):c.68824+17T>C
|
|
|
|
NM_001267550.2(TTN):c.68824+9A>G
|
rs746586991
|
|
|
NM_001267550.2(TTN):c.68825-15T>A
|
|
|
|
NM_001267550.2(TTN):c.68825-18G>A
|
rs755948095
|
|
|
NM_001267550.2(TTN):c.68825-9T>C
|
rs373981349
|
|
|
NM_001267550.2(TTN):c.68829A>G (p.Ala22943=)
|
rs1313425866
|
|
|
NM_001267550.2(TTN):c.68865G>A (p.Gly22955=)
|
rs990873945
|
|
|
NM_001267550.2(TTN):c.68871A>G (p.Thr22957=)
|
rs2046683424
|
|
|
NM_001267550.2(TTN):c.68886T>C (p.Asp22962=)
|
|
|
|
NM_001267550.2(TTN):c.68896T>C (p.Leu22966=)
|
|
|
|
NM_001267550.2(TTN):c.68925C>A (p.Pro22975=)
|
|
|
|
NM_001267550.2(TTN):c.68928T>C (p.Leu22976=)
|
|
|
|
NM_001267550.2(TTN):c.68946C>G (p.Ser22982=)
|
|
|
|
NM_001267550.2(TTN):c.6894A>G (p.Lys2298=)
|
|
|
|
NM_001267550.2(TTN):c.68964T>C (p.Ile22988=)
|
rs777786229
|
|
|
NM_001267550.2(TTN):c.68965A>C (p.Arg22989=)
|
rs2046669348
|
|
|
NM_001267550.2(TTN):c.68970A>G (p.Pro22990=)
|
|
|
|
NM_001267550.2(TTN):c.69003A>C (p.Thr23001=)
|
|
|
|
NM_001267550.2(TTN):c.6900T>C (p.Tyr2300=)
|
|
|
|
NM_001267550.2(TTN):c.69030C>A (p.Ala23010=)
|
|
|
|
NM_001267550.2(TTN):c.69066T>G (p.Ala23022=)
|
|
|
|
NM_001267550.2(TTN):c.69078T>C (p.Phe23026=)
|
|
|
|
NM_001267550.2(TTN):c.69084G>T (p.Thr23028=)
|
|
|
|
NM_001267550.2(TTN):c.69096T>C (p.His23032=)
|
rs1374973500
|
|
|
NM_001267550.2(TTN):c.69123T>C (p.Pro23041=)
|
|
|
|
NM_001267550.2(TTN):c.69132A>G (p.Pro23044=)
|
rs2046624348
|
|
|
NM_001267550.2(TTN):c.69138T>C (p.Pro23046=)
|
|
|
|
NM_001267550.2(TTN):c.69141T>C (p.Val23047=)
|
rs2154173590
|
|
|
NM_001267550.2(TTN):c.69144A>G (p.Glu23048=)
|
rs786205342
|
|
|
NM_001267550.2(TTN):c.69159T>C (p.Ser23053=)
|
rs1437579883
|
|
|
NM_001267550.2(TTN):c.6915G>A (p.Glu2305=)
|
|
|
|
NM_001267550.2(TTN):c.69174A>T (p.Thr23058=)
|
rs909042357
|
|
|
NM_001267550.2(TTN):c.69192C>T (p.Pro23064=)
|
rs1315369963
|
|
|
NM_001267550.2(TTN):c.691G>A (p.Ala231Thr)
|
rs752452129
|
|
|
NM_001267550.2(TTN):c.69201T>C (p.Asp23067=)
|
|
|
|
NM_001267550.2(TTN):c.69204C>T (p.Gly23068=)
|
rs188919648
|
|
|
NM_001267550.2(TTN):c.69207C>A (p.Gly23069=)
|
|
|
|
NM_001267550.2(TTN):c.69213A>T (p.Pro23071=)
|
|
|
|
NM_001267550.2(TTN):c.69222C>A (p.Ser23074=)
|
rs753154331
|
|
|
NM_001267550.2(TTN):c.69225T>C (p.Tyr23075=)
|
|
|
|
NM_001267550.2(TTN):c.69258G>A (p.Leu23086=)
|
|
|
|
NM_001267550.2(TTN):c.6927T>C (p.Asn2309=)
|
rs147580120
|
|
|
NM_001267550.2(TTN):c.69333C>T (p.Ile23111=)
|
|
|
|
NM_001267550.2(TTN):c.69336C>T (p.Phe23112=)
|
|
|
|
NM_001267550.2(TTN):c.69339G>A (p.Arg23113=)
|
|
|
|
NM_001267550.2(TTN):c.69342C>T (p.Val23114=)
|
|
|
|
NM_001267550.2(TTN):c.69354C>T (p.Asn23118=)
|
rs2154173463
|
|
|
NM_001267550.2(TTN):c.69393C>G (p.Val23131=)
|
rs727504692
|
|
|
NM_001267550.2(TTN):c.69412+13T>C
|
|
|
|
NM_001267550.2(TTN):c.69413-10T>A
|
rs1304463140
|
|
|
NM_001267550.2(TTN):c.69438A>G (p.Pro23146=)
|
rs369112015
|
|
|
NM_001267550.2(TTN):c.69456T>C (p.Thr23152=)
|
|
|
|
NM_001267550.2(TTN):c.69465T>G (p.Thr23155=)
|
|
|
|
NM_001267550.2(TTN):c.69519A>G (p.Gly23173=)
|
|
|
|
NM_001267550.2(TTN):c.69550C>T (p.Leu23184=)
|
|
|
|
NM_001267550.2(TTN):c.69564A>G (p.Arg23188=)
|
rs1357258606
|
|
|
NM_001267550.2(TTN):c.69612G>A (p.Leu23204=)
|
|
|
|
NM_001267550.2(TTN):c.69639T>A (p.Arg23213=)
|
|
|
|
NM_001267550.2(TTN):c.69687A>G (p.Ser23229=)
|
|
|
|
NM_001267550.2(TTN):c.69715+11_69715+14del
|
rs1300822971
|
|
|
NM_001267550.2(TTN):c.69716-15T>G
|
|
|
|
NM_001267550.2(TTN):c.69716-15_69716-14del
|
|
|
|
NM_001267550.2(TTN):c.69716-19G>A
|
|
|
|
NM_001267550.2(TTN):c.69716-9C>T
|
rs776930347
|
|
|
NM_001267550.2(TTN):c.69729A>T (p.Pro23243=)
|
|
|
|
NM_001267550.2(TTN):c.6972G>T (p.Thr2324=)
|
|
|
|
NM_001267550.2(TTN):c.69741G>T (p.Pro23247=)
|
rs566393354
|
|
|
NM_001267550.2(TTN):c.69771T>G (p.Ala23257=)
|
|
|
|
NM_001267550.2(TTN):c.69786C>T (p.Gly23262=)
|
|
|
|
NM_001267550.2(TTN):c.69804T>A (p.Gly23268=)
|
rs2154172914
|
|
|
NM_001267550.2(TTN):c.69804T>C (p.Gly23268=)
|
|
|
|
NM_001267550.2(TTN):c.6981T>C (p.Asp2327=)
|
rs397517709
|
|
|
NM_001267550.2(TTN):c.69825T>C (p.Tyr23275=)
|
rs753970015
|
|
|
NM_001267550.2(TTN):c.69828C>G (p.Val23276=)
|
|
|
|
NM_001267550.2(TTN):c.69873C>T (p.Thr23291=)
|
|
|
|
NM_001267550.2(TTN):c.69876A>C (p.Thr23292=)
|
rs1267766480
|
|
|
NM_001267550.2(TTN):c.69876A>G (p.Thr23292=)
|
rs1267766480
|
|
|
NM_001267550.2(TTN):c.6987C>A (p.Thr2329=)
|
rs1319645804
|
|
|
NM_001267550.2(TTN):c.69882C>A (p.Thr23294=)
|
|
|
|
NM_001267550.2(TTN):c.69885C>T (p.Ala23295=)
|
|
|
|
NM_001267550.2(TTN):c.69888C>G (p.Leu23296=)
|
rs2154172842
|
|
|
NM_001267550.2(TTN):c.69903C>A (p.Phe23301Leu)
|
rs372799151
|
|
|
NM_001267550.2(TTN):c.69903C>T (p.Phe23301=)
|
rs372799151
|
|
|
NM_001267550.2(TTN):c.6990G>A (p.Lys2330=)
|
|
|
|
NM_001267550.2(TTN):c.69921G>A (p.Gln23307=)
|
|
|
|
NM_001267550.2(TTN):c.6996C>T (p.Asp2332=)
|
|
|
|
NM_001267550.2(TTN):c.69984G>C (p.Ala23328=)
|
rs56052239
|
|
|
NM_001267550.2(TTN):c.70017G>A (p.Glu23339=)
|
|
|
|
NM_001267550.2(TTN):c.70026T>C (p.Pro23342=)
|
rs878983731
|
|
|
NM_001267550.2(TTN):c.70059A>G (p.Thr23353=)
|
rs1174326827
|
|
|
NM_001267550.2(TTN):c.70059A>T (p.Thr23353=)
|
rs1174326827
|
|
|
NM_001267550.2(TTN):c.70095T>C (p.Phe23365=)
|
|
|
|
NM_001267550.2(TTN):c.70101A>G (p.Pro23367=)
|
|
|
|
NM_001267550.2(TTN):c.70131A>T (p.Thr23377=)
|
rs369503828
|
|
|
NM_001267550.2(TTN):c.70137C>A (p.Thr23379=)
|
rs770349910
|
|
|
NM_001267550.2(TTN):c.70149C>T (p.Ile23383=)
|
rs1257313569
|
|
|
NM_001267550.2(TTN):c.70164A>C (p.Arg23388=)
|
|
|
|
NM_001267550.2(TTN):c.70179T>C (p.Asn23393=)
|
|
|
|
NM_001267550.2(TTN):c.70200G>C (p.Leu23400=)
|
rs765776189
|
|
|
NM_001267550.2(TTN):c.70203T>C (p.Ile23401=)
|
rs2154172628
|
|
|
NM_001267550.2(TTN):c.70206C>T (p.Ile23402=)
|
rs1575810587
|
|
|
NM_001267550.2(TTN):c.7020C>T (p.Ile2340=)
|
rs587780986
|
|
|
NM_001267550.2(TTN):c.70227T>C (p.Asp23409=)
|
rs2154172609
|
|
|
NM_001267550.2(TTN):c.70230C>T (p.Thr23410=)
|
rs370698218
|
|
|
NM_001267550.2(TTN):c.70278C>T (p.Gly23426=)
|
rs1007006087
|
|
|
NM_001267550.2(TTN):c.70296C>G (p.Val23432=)
|
rs778138805
|
|
|
NM_001267550.2(TTN):c.70314A>G (p.Pro23438=)
|
rs1575808959
|
|
|
NM_001267550.2(TTN):c.70323C>T (p.Asn23441=)
|
rs751179969
|
|
|
NM_001267550.2(TTN):c.70341C>T (p.Ile23447=)
|
|
|
|
NM_001267550.2(TTN):c.70371C>T (p.Asp23457=)
|
|
|
|
NM_001267550.2(TTN):c.70377T>C (p.Pro23459=)
|
rs768458635
|
|
|
NM_001267550.2(TTN):c.70407C>T (p.Asn23469=)
|
rs2154172489
|
|
|
NM_001267550.2(TTN):c.70413T>C (p.Ile23471=)
|
|
|
|
NM_001267550.2(TTN):c.70437G>A (p.Arg23479=)
|
|
|
|
NM_001267550.2(TTN):c.70446T>C (p.Tyr23482=)
|
|
|
|
NM_001267550.2(TTN):c.70464G>A (p.Lys23488=)
|
rs1181435043
|
|
|
NM_001267550.2(TTN):c.70473A>G (p.Lys23491=)
|
rs397517685
|
|
|
NM_001267550.2(TTN):c.70479A>G (p.Thr23493=)
|
rs879010176
|
|
|
NM_001267550.2(TTN):c.70545T>C (p.Tyr23515=)
|
rs1575805406
|
|
|
NM_001267550.2(TTN):c.70554T>C (p.Gly23518=)
|
rs1483355164
|
|
|
NM_001267550.2(TTN):c.70557G>A (p.Glu23519=)
|
|
|
|
NM_001267550.2(TTN):c.70560A>C (p.Pro23520=)
|
|
|
|
NM_001267550.2(TTN):c.70560A>G (p.Pro23520=)
|
rs759355651
|
|
|
NM_001267550.2(TTN):c.7057+19G>T
|
rs1348394218
|
|
|
NM_001267550.2(TTN):c.7057+19del
|
|
|
|
NM_001267550.2(TTN):c.7057+7C>A
|
rs1574627182
|
|
|
NM_001267550.2(TTN):c.7057+8C>T
|
rs1330193226
|
|
|
NM_001267550.2(TTN):c.7058-11A>C
|
rs375844169
|
|
|
NM_001267550.2(TTN):c.7058-11A>G
|
|
|
|
NM_001267550.2(TTN):c.7058-4A>G
|
rs2091914495
|
|
|
NM_001267550.2(TTN):c.70587C>T (p.Ala23529=)
|
|
|
|
NM_001267550.2(TTN):c.705A>T (p.Ala235=)
|
|
|
|
NM_001267550.2(TTN):c.70620C>T (p.Asn23540=)
|
|
|
|
NM_001267550.2(TTN):c.70647C>A (p.Val23549=)
|
rs752532543
|
|
|
NM_001267550.2(TTN):c.70650C>T (p.Ser23550=)
|
|
|
|
NM_001267550.2(TTN):c.70662T>C (p.Pro23554=)
|
|
|
|
NM_001267550.2(TTN):c.70689G>A (p.Lys23563=)
|
|
|
|
NM_001267550.2(TTN):c.70698C>T (p.Gly23566=)
|
rs1553613149
|
|
|
NM_001267550.2(TTN):c.70713C>A (p.Ala23571=)
|
rs886933639
|
|
|
NM_001267550.2(TTN):c.70731C>T (p.Asp23577=)
|
|
|
|
NM_001267550.2(TTN):c.70746C>T (p.Ile23582=)
|
|
|
|
NM_001267550.2(TTN):c.70761G>A (p.Gly23587=)
|
rs190149868
|
|
|
NM_001267550.2(TTN):c.70788T>C (p.Thr23596=)
|
rs759981606
|
|
|
NM_001267550.2(TTN):c.70803T>C (p.Tyr23601=)
|
rs769541838
|
|
|
NM_001267550.2(TTN):c.70809C>T (p.Phe23603=)
|
|
|
|
NM_001267550.2(TTN):c.70821A>G (p.Ala23607=)
|
rs1412386922
|
|
|
NM_001267550.2(TTN):c.70824G>T (p.Val23608=)
|
rs1248176732
|
|
|
NM_001267550.2(TTN):c.70857C>T (p.Ser23619=)
|
|
|
|
NM_001267550.2(TTN):c.70875G>A (p.Lys23625=)
|
|
|
|
NM_001267550.2(TTN):c.70878G>A (p.Glu23626=)
|
rs1341917160
|
|
|
NM_001267550.2(TTN):c.70890T>C (p.Leu23630=)
|
rs2154172099
|
|
|
NM_001267550.2(TTN):c.70924C>T (p.Leu23642=)
|
|
|
|
NM_001267550.2(TTN):c.70950C>T (p.Asn23650=)
|
|
|
|
NM_001267550.2(TTN):c.70971G>A (p.Val23657=)
|
|
|
|
NM_001267550.2(TTN):c.70974C>T (p.Leu23658=)
|
|
|
|
NM_001267550.2(TTN):c.71010A>G (p.Gly23670=)
|
rs1709583820
|
|
|
NM_001267550.2(TTN):c.71034G>A (p.Gln23678=)
|
|
|
|
NM_001267550.2(TTN):c.71079C>T (p.Ile23693=)
|
rs2154171959
|
|
|
NM_001267550.2(TTN):c.7107G>A (p.Glu2369=)
|
rs2154344970
|
|
|
NM_001267550.2(TTN):c.71100T>C (p.Asp23700=)
|
|
|
|
NM_001267550.2(TTN):c.71106G>A (p.Gly23702=)
|
|
|
|
NM_001267550.2(TTN):c.7113C>T (p.Asp2371=)
|
|
|
|
NM_001267550.2(TTN):c.71181A>C (p.Pro23727=)
|
rs748351899
|
|
|
NM_001267550.2(TTN):c.71187A>G (p.Pro23729=)
|
|
|
|
NM_001267550.2(TTN):c.7122G>A (p.Gln2374=)
|
rs774105753
|
|
|
NM_001267550.2(TTN):c.71238C>T (p.Phe23746=)
|
|
|
|
NM_001267550.2(TTN):c.71247C>T (p.Asp23749=)
|
|
|
|
NM_001267550.2(TTN):c.71262T>C (p.Asp23754=)
|
|
|
|
NM_001267550.2(TTN):c.71286T>C (p.Tyr23762=)
|
|
|
|
NM_001267550.2(TTN):c.7134A>G (p.Lys2378=)
|
rs1574624330
|
|
|
NM_001267550.2(TTN):c.71352T>A (p.Thr23784=)
|
rs1709474052
|
|
|
NM_001267550.2(TTN):c.71383T>C (p.Leu23795=)
|
|
|
|
NM_001267550.2(TTN):c.71409T>G (p.Ala23803=)
|
|
|
|
NM_001267550.2(TTN):c.71415T>C (p.Asn23805=)
|
rs2154171722
|
|
|
NM_001267550.2(TTN):c.71445A>G (p.Ser23815=)
|
|
|
|
NM_001267550.2(TTN):c.71460C>T (p.Ala23820=)
|
rs1337230381
|
|
|
NM_001267550.2(TTN):c.71472T>C (p.Phe23824=)
|
rs2154171694
|
|
|
NM_001267550.2(TTN):c.71478T>A (p.Val23826=)
|
rs1553611441
|
|
|
NM_001267550.2(TTN):c.71481T>C (p.Pro23827=)
|
|
|
|
NM_001267550.2(TTN):c.71481T>G (p.Pro23827=)
|
|
|
|
NM_001267550.2(TTN):c.71490T>C (p.Pro23830=)
|
|
|
|
NM_001267550.2(TTN):c.71508T>C (p.Thr23836=)
|
rs1553611380
|
|
|
NM_001267550.2(TTN):c.7152G>A (p.Val2384=)
|
rs2154344952
|
|
|
NM_001267550.2(TTN):c.71559T>C (p.Asp23853=)
|
|
|
|
NM_001267550.2(TTN):c.71586T>C (p.His23862=)
|
|
|
|
NM_001267550.2(TTN):c.71613T>C (p.Ile23871=)
|
rs1060503938
|
|
|
NM_001267550.2(TTN):c.71631C>T (p.Ser23877=)
|
rs1206956303
|
|
|
NM_001267550.2(TTN):c.71646A>G (p.Pro23882=)
|
|
|
|
NM_001267550.2(TTN):c.71652C>T (p.Asn23884=)
|
rs2154171582
|
|
|
NM_001267550.2(TTN):c.71661A>G (p.Lys23887=)
|
rs1575788923
|
|
|
NM_001267550.2(TTN):c.71664A>T (p.Ser23888=)
|
|
|
|
NM_001267550.2(TTN):c.71709A>C (p.Ala23903=)
|
|
|
|
NM_001267550.2(TTN):c.71709A>G (p.Ala23903=)
|
|
|
|
NM_001267550.2(TTN):c.71763T>G (p.Ala23921=)
|
rs2154171497
|
|
|
NM_001267550.2(TTN):c.71817C>T (p.His23939=)
|
|
|
|
NM_001267550.2(TTN):c.71850T>C (p.Tyr23950=)
|
|
|
|
NM_001267550.2(TTN):c.71868T>C (p.Ile23956=)
|
rs778594459
|
|
|
NM_001267550.2(TTN):c.71877T>C (p.Tyr23959=)
|
rs2154171426
|
|
|
NM_001267550.2(TTN):c.71880C>T (p.Ile23960=)
|
rs1366447660
|
|
|
NM_001267550.2(TTN):c.71883T>G (p.Val23961=)
|
|
|
|
NM_001267550.2(TTN):c.71895C>T (p.Asp23965=)
|
rs772655984
|
|
|
NM_001267550.2(TTN):c.71904T>C (p.Asn23968=)
|
rs2154171399
|
|
|
NM_001267550.2(TTN):c.7198A>C (p.Arg2400=)
|
rs765593704
|
|
|
NM_001267550.2(TTN):c.72015A>T (p.Ala24005=)
|
|
|
|
NM_001267550.2(TTN):c.7203T>C (p.Val2401=)
|
rs1345996453
|
|
|
NM_001267550.2(TTN):c.72045T>C (p.Ser24015=)
|
rs764270464
|
|
|
NM_001267550.2(TTN):c.72054C>A (p.Ile24018=)
|
rs1575783092
|
|
|
NM_001267550.2(TTN):c.72060C>T (p.Cys24020=)
|
|
|
|
NM_001267550.2(TTN):c.72078A>G (p.Ala24026=)
|
rs1460533834
|
|
|
NM_001267550.2(TTN):c.720C>G (p.Val240=)
|
|
|
|
NM_001267550.2(TTN):c.720C>T (p.Val240=)
|
|
|
|
NM_001267550.2(TTN):c.72114G>C (p.Thr24038=)
|
rs768064912
|
|
|
NM_001267550.2(TTN):c.72129A>T (p.Ala24043=)
|
rs1553610082
|
|
|
NM_001267550.2(TTN):c.72132T>A (p.Gly24044=)
|
|
|
|
NM_001267550.2(TTN):c.72138A>G (p.Ala24046=)
|
|
|
|
NM_001267550.2(TTN):c.72150A>G (p.Glu24050=)
|
|
|
|
NM_001267550.2(TTN):c.72165C>T (p.Gly24055=)
|
|
|
|
NM_001267550.2(TTN):c.72171A>C (p.Pro24057=)
|
rs397517692
|
|
|
NM_001267550.2(TTN):c.72171A>G (p.Pro24057=)
|
rs397517692
|
|
|
NM_001267550.2(TTN):c.72174T>C (p.Pro24058=)
|
rs886042700
|
|
|
NM_001267550.2(TTN):c.72180A>G (p.Thr24060=)
|
rs786205320
|
|
|
NM_001267550.2(TTN):c.72208C>T (p.Leu24070=)
|
|
|
|
NM_001267550.2(TTN):c.72222A>G (p.Ala24074=)
|
rs763627374
|
|
|
NM_001267550.2(TTN):c.72225G>A (p.Lys24075=)
|
|
|
|
NM_001267550.2(TTN):c.72228A>G (p.Leu24076=)
|
|
|
|
NM_001267550.2(TTN):c.72261G>A (p.Leu24087=)
|
|
|
|
NM_001267550.2(TTN):c.72264A>G (p.Val24088=)
|
|
|
|
NM_001267550.2(TTN):c.72282A>G (p.Arg24094=)
|
rs2154171130
|
|
|
NM_001267550.2(TTN):c.72303C>T (p.Thr24101=)
|
|
|
|
NM_001267550.2(TTN):c.72309A>G (p.Thr24103=)
|
|
|
|
NM_001267550.2(TTN):c.72318T>C (p.Asn24106=)
|
rs2154171101
|
|
|
NM_001267550.2(TTN):c.7242T>C (p.Ile2414=)
|
rs727503689
|
|
|
NM_001267550.2(TTN):c.72441A>G (p.Pro24147=)
|
|
|
|
NM_001267550.2(TTN):c.72442C>T (p.Leu24148=)
|
|
|
|
NM_001267550.2(TTN):c.72474C>T (p.Tyr24158=)
|
rs2154170995
|
|
|
NM_001267550.2(TTN):c.72480A>C (p.Val24160=)
|
rs1709038132
|
|
|
NM_001267550.2(TTN):c.72489T>C (p.Arg24163=)
|
rs1575777567
|
|
|
NM_001267550.2(TTN):c.72492A>G (p.Glu24164=)
|
rs1265932438
|
|
|
NM_001267550.2(TTN):c.72516T>C (p.Asn24172=)
|
rs765095887
|
|
|
NM_001267550.2(TTN):c.72544C>T (p.Leu24182=)
|
|
|
|
NM_001267550.2(TTN):c.72564G>A (p.Leu24188=)
|
rs2154170955
|
|
|
NM_001267550.2(TTN):c.72576A>G (p.Glu24192=)
|
|
|
|
NM_001267550.2(TTN):c.72625C>T (p.Leu24209=)
|
|
|
|
NM_001267550.2(TTN):c.72633A>C (p.Ser24211=)
|
rs1708984341
|
|
|
NM_001267550.2(TTN):c.72696A>G (p.Thr24232=)
|
rs2154170828
|
|
|
NM_001267550.2(TTN):c.72705T>C (p.Thr24235=)
|
rs1190636945
|
|
|
NM_001267550.2(TTN):c.72720T>C (p.Val24240=)
|
rs550285671
|
|
|
NM_001267550.2(TTN):c.72765C>A (p.Ile24255=)
|
|
|
|
NM_001267550.2(TTN):c.72768T>C (p.Asn24256=)
|
rs2154170789
|
|
|
NM_001267550.2(TTN):c.72792A>G (p.Lys24264=)
|
|
|
|
NM_001267550.2(TTN):c.72825A>G (p.Lys24275=)
|
|
|
|
NM_001267550.2(TTN):c.72852G>A (p.Val24284=)
|
|
|
|
NM_001267550.2(TTN):c.72873T>C (p.His24291=)
|
rs2154170714
|
|
|
NM_001267550.2(TTN):c.7290A>G (p.Pro2430=)
|
|
|
|
NM_001267550.2(TTN):c.72939A>G (p.Pro24313=)
|
rs1359501384
|
|
|
NM_001267550.2(TTN):c.72948G>A (p.Lys24316=)
|
|
|
|
NM_001267550.2(TTN):c.72960T>A (p.Thr24320=)
|
|
|
|
NM_001267550.2(TTN):c.72993T>C (p.Arg24331=)
|
rs1312895296
|
|
|
NM_001267550.2(TTN):c.72C>T (p.Thr24=)
|
|
|
|
NM_001267550.2(TTN):c.73017C>T (p.Ser24339=)
|
|
|
|
NM_001267550.2(TTN):c.73053T>C (p.Gly24351=)
|
rs1708829718
|
|
|
NM_001267550.2(TTN):c.73059A>G (p.Ser24353=)
|
|
|
|
NM_001267550.2(TTN):c.73068T>C (p.Thr24356=)
|
rs1264242838
|
|
|
NM_001267550.2(TTN):c.73074T>C (p.Tyr24358=)
|
|
|
|
NM_001267550.2(TTN):c.73098G>A (p.Glu24366=)
|
|
|
|
NM_001267550.2(TTN):c.73104T>C (p.Asp24368=)
|
rs2154170540
|
|
|
NM_001267550.2(TTN):c.7311T>C (p.Ser2437=)
|
rs2154344855
|
|
|
NM_001267550.2(TTN):c.73128A>T (p.Pro24376=)
|
|
|
|
NM_001267550.2(TTN):c.73146T>G (p.Thr24382=)
|
rs372092427
|
|
|
NM_001267550.2(TTN):c.73155T>C (p.Thr24385=)
|
rs2154170507
|
|
|
NM_001267550.2(TTN):c.73167C>A (p.Leu24389=)
|
rs1676091978
|
|
|
NM_001267550.2(TTN):c.73173G>A (p.Glu24391=)
|
|
|
|
NM_001267550.2(TTN):c.73179G>A (p.Gln24393=)
|
rs1575768403
|
|
|
NM_001267550.2(TTN):c.73233C>T (p.Ala24411=)
|
rs879070935
|
|
|
NM_001267550.2(TTN):c.73242T>G (p.Pro24414=)
|
|
|
|
NM_001267550.2(TTN):c.73251A>C (p.Pro24417=)
|
|
|
|
NM_001267550.2(TTN):c.73272G>C (p.Leu24424=)
|
|
|
|
NM_001267550.2(TTN):c.7330+15T>C
|
rs2154344835
|
|
|
NM_001267550.2(TTN):c.7330+15T>G
|
rs2154344835
|
|
|
NM_001267550.2(TTN):c.7330+16A>G
|
|
|
|
NM_001267550.2(TTN):c.7330+8C>T
|
|
|
|
NM_001267550.2(TTN):c.73308A>G (p.Lys24436=)
|
|
|
|
NM_001267550.2(TTN):c.7331-10G>A
|
|
|
|
NM_001267550.2(TTN):c.7331-18G>C
|
|
|
|
NM_001267550.2(TTN):c.7331-18G>T
|
|
|
|
NM_001267550.2(TTN):c.7331-20GT[5]
|
|
|
|
NM_001267550.2(TTN):c.73314T>C (p.Val24438=)
|
|
|
|
NM_001267550.2(TTN):c.73317T>C (p.Thr24439=)
|
rs764696657
|
|
|
NM_001267550.2(TTN):c.73320A>C (p.Ile24440=)
|
rs1575766117
|
|
|
NM_001267550.2(TTN):c.73323G>A (p.Arg24441=)
|
|
|
|
NM_001267550.2(TTN):c.73335C>T (p.Thr24445=)
|
|
|
|
NM_001267550.2(TTN):c.73389C>T (p.Ala24463=)
|
rs2154170321
|
|
|
NM_001267550.2(TTN):c.73392G>A (p.Arg24464=)
|
|
|
|
NM_001267550.2(TTN):c.73398T>C (p.His24466=)
|
rs375373437
|
|
|
NM_001267550.2(TTN):c.73419T>C (p.Ala24473=)
|
|
|
|
NM_001267550.2(TTN):c.73425C>T (p.Ile24475=)
|
|
|
|
NM_001267550.2(TTN):c.73431C>T (p.Ser24477=)
|
rs1708665824
|
|
|
NM_001267550.2(TTN):c.73449G>A (p.Leu24483=)
|
rs1359097374
|
|
|
NM_001267550.2(TTN):c.73461A>G (p.Gly24487=)
|
|
|
|
NM_001267550.2(TTN):c.73467A>G (p.Val24489=)
|
rs2154170265
|
|
|
NM_001267550.2(TTN):c.73467A>T (p.Val24489=)
|
|
|
|
NM_001267550.2(TTN):c.73485C>T (p.Gly24495=)
|
|
|
|
NM_001267550.2(TTN):c.73542T>C (p.Val24514=)
|
|
|
|
NM_001267550.2(TTN):c.73542T>G (p.Val24514=)
|
rs2154170229
|
|
|
NM_001267550.2(TTN):c.73551C>A (p.Leu24517=)
|
|
|
|
NM_001267550.2(TTN):c.73551C>T (p.Leu24517=)
|
rs1708627219
|
|
|
NM_001267550.2(TTN):c.73554T>C (p.Asp24518=)
|
|
|
|
NM_001267550.2(TTN):c.73560A>G (p.Pro24520=)
|
|
|
|
NM_001267550.2(TTN):c.73563C>A (p.Gly24521=)
|
rs756809007
|
|
|
NM_001267550.2(TTN):c.73563C>G (p.Gly24521=)
|
rs756809007
|
|
|
NM_001267550.2(TTN):c.73563C>T (p.Gly24521=)
|
|
|
|
NM_001267550.2(TTN):c.7356A>G (p.Lys2452=)
|
|
|
|
NM_001267550.2(TTN):c.73593C>G (p.Val24531=)
|
rs1575762956
|
|
|
NM_001267550.2(TTN):c.73611A>G (p.Thr24537=)
|
|
|
|
NM_001267550.2(TTN):c.7362T>A (p.Val2454=)
|
rs1574618784
|
|
|
NM_001267550.2(TTN):c.73644T>C (p.Gly24548=)
|
|
|
|
NM_001267550.2(TTN):c.73650A>G (p.Lys24550=)
|
rs2154170139
|
|
|
NM_001267550.2(TTN):c.7368G>C (p.Val2456=)
|
rs886055301
|
|
|
NM_001267550.2(TTN):c.73737G>A (p.Lys24579=)
|
|
|
|
NM_001267550.2(TTN):c.73776G>A (p.Arg24592=)
|
rs886055247
|
|
|
NM_001267550.2(TTN):c.73779T>C (p.Val24593=)
|
|
|
|
NM_001267550.2(TTN):c.7377C>A (p.Gly2459=)
|
rs2154344748
|
|
|
NM_001267550.2(TTN):c.73827A>G (p.Glu24609=)
|
rs754097967
|
|
|
NM_001267550.2(TTN):c.73833G>T (p.Val24611=)
|
rs2154170017
|
|
|
NM_001267550.2(TTN):c.73842A>C (p.Ser24614=)
|
rs1298294252
|
|
|
NM_001267550.2(TTN):c.73851T>C (p.Pro24617=)
|
|
|
|
NM_001267550.2(TTN):c.7386T>G (p.Ala2462=)
|
rs767718451
|
|
|
NM_001267550.2(TTN):c.73884C>T (p.Val24628=)
|
rs2154169974
|
|
|
NM_001267550.2(TTN):c.73887A>G (p.Thr24629=)
|
|
|
|
NM_001267550.2(TTN):c.73893T>C (p.Asn24631=)
|
|
|
|
NM_001267550.2(TTN):c.7389G>A (p.Val2463=)
|
rs1574618359
|
|
|
NM_001267550.2(TTN):c.73920A>G (p.Pro24640=)
|
rs2154169948
|
|
|
NM_001267550.2(TTN):c.7398T>C (p.Cys2466=)
|
rs2154344736
|
|
|
NM_001267550.2(TTN):c.73992C>T (p.Ala24664=)
|
rs1328943315
|
|
|
NM_001267550.2(TTN):c.73995G>T (p.Thr24665=)
|
|
|
|
NM_001267550.2(TTN):c.7401G>A (p.Lys2467=)
|
|
|
|
NM_001267550.2(TTN):c.74028C>A (p.Ile24676=)
|
|
|
|
NM_001267550.2(TTN):c.74067T>G (p.Val24689=)
|
|
|
|
NM_001267550.2(TTN):c.74085G>A (p.Lys24695=)
|
|
|
|
NM_001267550.2(TTN):c.74124C>T (p.Ile24708=)
|
|
|
|
NM_001267550.2(TTN):c.74127C>T (p.Ala24709=)
|
|
|
|
NM_001267550.2(TTN):c.74139C>A (p.Val24713=)
|
rs752387560
|
|
|
NM_001267550.2(TTN):c.74139C>T (p.Val24713=)
|
rs752387560
|
|
|
NM_001267550.2(TTN):c.74142T>A (p.Ile24714=)
|
|
|
|
NM_001267550.2(TTN):c.74229T>G (p.Pro24743=)
|
|
|
|
NM_001267550.2(TTN):c.74259T>C (p.Asn24753=)
|
|
|
|
NM_001267550.2(TTN):c.74262A>G (p.Val24754=)
|
rs745865847
|
|
|
NM_001267550.2(TTN):c.74266C>T (p.Leu24756=)
|
rs2154169657
|
|
|
NM_001267550.2(TTN):c.74271G>A (p.Lys24757=)
|
|
|
|
NM_001267550.2(TTN):c.74280T>C (p.Thr24760=)
|
|
|
|
NM_001267550.2(TTN):c.74283A>G (p.Arg24761=)
|
rs1559406924
|
|
|
NM_001267550.2(TTN):c.74286A>T (p.Val24762=)
|
rs757652524
|
|
|
NM_001267550.2(TTN):c.74295G>A (p.Glu24765=)
|
rs756519457
|
|
|
NM_001267550.2(TTN):c.74301A>G (p.Thr24767=)
|
|
|
|
NM_001267550.2(TTN):c.74310T>C (p.Asn24770=)
|
rs2154169622
|
|
|
NM_001267550.2(TTN):c.74340A>C (p.Arg24780=)
|
rs878929961
|
|
|
NM_001267550.2(TTN):c.74358T>C (p.Tyr24786=)
|
|
|
|
NM_001267550.2(TTN):c.74379A>C (p.Ser24793=)
|
rs2154169557
|
|
|
NM_001267550.2(TTN):c.74391T>C (p.Ala24797=)
|
rs760809843
|
|
|
NM_001267550.2(TTN):c.74415T>C (p.Val24805=)
|
rs2154169537
|
|
|
NM_001267550.2(TTN):c.74475T>C (p.Ser24825=)
|
|
|
|
NM_001267550.2(TTN):c.74493C>A (p.Gly24831=)
|
rs2154169489
|
|
|
NM_001267550.2(TTN):c.74499C>G (p.Pro24833=)
|
rs1553605256
|
|
|
NM_001267550.2(TTN):c.74508T>C (p.Asp24836=)
|
rs1060503924
|
|
|
NM_001267550.2(TTN):c.74511T>C (p.Gly24837=)
|
rs2154169470
|
|
|
NM_001267550.2(TTN):c.74517T>C (p.Ser24839=)
|
rs1301601226
|
|
|
NM_001267550.2(TTN):c.7455C>T (p.Ile2485=)
|
rs771849393
|
|
|
NM_001267550.2(TTN):c.74574T>C (p.Ile24858=)
|
rs1553605045
|
|
|
NM_001267550.2(TTN):c.7458G>A (p.Lys2486=)
|
rs1554000842
|
|
|
NM_001267550.2(TTN):c.74597CAA[1] (p.Thr24867del)
|
rs543318580
|
|
|
NM_001267550.2(TTN):c.74619G>A (p.Leu24873=)
|
|
|
|
NM_001267550.2(TTN):c.74631T>C (p.Cys24877=)
|
|
|
|
NM_001267550.2(TTN):c.74655T>C (p.Ala24885=)
|
rs1060503930
|
|
|
NM_001267550.2(TTN):c.74736T>C (p.Pro24912=)
|
rs2154169284
|
|
|
NM_001267550.2(TTN):c.7473A>G (p.Val2491=)
|
rs2154344707
|
|
|
NM_001267550.2(TTN):c.74766G>A (p.Arg24922=)
|
rs372814940
|
|
|
NM_001267550.2(TTN):c.747G>A (p.Leu249=)
|
rs1554041576
|
|
|
NM_001267550.2(TTN):c.74805T>C (p.Asp24935=)
|
|
|
|
NM_001267550.2(TTN):c.7482T>C (p.Ile2494=)
|
rs749215640
|
|
|
NM_001267550.2(TTN):c.74853T>C (p.Asn24951=)
|
rs1575745292
|
|
|
NM_001267550.2(TTN):c.74871G>A (p.Lys24957=)
|
|
|
|
NM_001267550.2(TTN):c.74872T>C (p.Leu24958=)
|
rs371888899
|
|
|
NM_001267550.2(TTN):c.74877T>C (p.Asn24959=)
|
|
|
|
NM_001267550.2(TTN):c.7491T>C (p.Gly2497=)
|
rs2154344699
|
|
|
NM_001267550.2(TTN):c.74928T>A (p.Gly24976=)
|
|
|
|
NM_001267550.2(TTN):c.74958G>A (p.Glu24986=)
|
rs2154169134
|
|
|
NM_001267550.2(TTN):c.74964C>T (p.Ile24988=)
|
rs777883873
|
|
|
NM_001267550.2(TTN):c.75048C>T (p.Ile25016=)
|
rs2154169056
|
|
|
NM_001267550.2(TTN):c.75060G>A (p.Arg25020=)
|
rs770758161
|
|
|
NM_001267550.2(TTN):c.7506A>G (p.Leu2502=)
|
rs2091836775
|
|
|
NM_001267550.2(TTN):c.75075T>C (p.Leu25025=)
|
rs1057523530
|
|
|
NM_001267550.2(TTN):c.75078G>A (p.Gln25026=)
|
|
|
|
NM_001267550.2(TTN):c.75093C>A (p.Thr25031=)
|
rs2154169022
|
|
|
NM_001267550.2(TTN):c.75117T>A (p.Thr25039=)
|
|
|
|
NM_001267550.2(TTN):c.75129T>C (p.Val25043=)
|
rs767050764
|
|
|
NM_001267550.2(TTN):c.75138A>G (p.Lys25046=)
|
|
|
|
NM_001267550.2(TTN):c.75147T>G (p.Pro25049=)
|
rs1553604038
|
|
|
NM_001267550.2(TTN):c.75150G>A (p.Glu25050=)
|
|
|
|
NM_001267550.2(TTN):c.75156T>C (p.Arg25052=)
|
|
|
|
NM_001267550.2(TTN):c.75180T>C (p.Asn25060=)
|
|
|
|
NM_001267550.2(TTN):c.75192T>A (p.Thr25064=)
|
rs370480927
|
|
|
NM_001267550.2(TTN):c.75204A>C (p.Val25068=)
|
rs1485443650
|
|
|
NM_001267550.2(TTN):c.75237C>T (p.Phe25079=)
|
|
|
|
NM_001267550.2(TTN):c.75267G>C (p.Val25089=)
|
|
|
|
NM_001267550.2(TTN):c.75276G>A (p.Glu25092=)
|
|
|
|
NM_001267550.2(TTN):c.75297A>G (p.Ala25099=)
|
rs1354658470
|
|
|
NM_001267550.2(TTN):c.75342T>C (p.Asp25114=)
|
rs1707914737
|
|
|
NM_001267550.2(TTN):c.75372T>C (p.His25124=)
|
rs1575738349
|
|
|
NM_001267550.2(TTN):c.75378T>G (p.Gly25126=)
|
|
|
|
NM_001267550.2(TTN):c.75411C>A (p.Gly25137=)
|
|
|
|
NM_001267550.2(TTN):c.75438A>C (p.Ile25146=)
|
rs957042580
|
|
|
NM_001267550.2(TTN):c.75450G>A (p.Gln25150=)
|
rs1189168893
|
|
|
NM_001267550.2(TTN):c.75468T>C (p.Ala25156=)
|
rs751263805
|
|
|
NM_001267550.2(TTN):c.75474A>G (p.Leu25158=)
|
|
|
|
NM_001267550.2(TTN):c.75489C>G (p.Thr25163=)
|
|
|
|
NM_001267550.2(TTN):c.75489C>T (p.Thr25163=)
|
rs1234238096
|
|
|
NM_001267550.2(TTN):c.75501C>A (p.Thr25167=)
|
rs1296646228
|
|
|
NM_001267550.2(TTN):c.75510T>C (p.Ser25170=)
|
|
|
|
NM_001267550.2(TTN):c.7551G>A (p.Leu2517=)
|
rs2154344669
|
|
|
NM_001267550.2(TTN):c.75522A>T (p.Ala25174=)
|
rs6732060
|
|
|
NM_001267550.2(TTN):c.75528T>C (p.Arg25176=)
|
|
|
|
NM_001267550.2(TTN):c.75564T>C (p.Asn25188=)
|
rs2154168623
|
|
|
NM_001267550.2(TTN):c.75600G>A (p.Lys25200=)
|
|
|
|
NM_001267550.2(TTN):c.75606T>C (p.Leu25202=)
|
rs2154168595
|
|
|
NM_001267550.2(TTN):c.75618G>C (p.Gly25206=)
|
|
|
|
NM_001267550.2(TTN):c.75639T>C (p.Val25213=)
|
|
|
|
NM_001267550.2(TTN):c.75642C>T (p.Ile25214=)
|
rs1559390679
|
|
|
NM_001267550.2(TTN):c.75670C>T (p.Leu25224=)
|
|
|
|
NM_001267550.2(TTN):c.75705T>C (p.Ser25235=)
|
|
|
|
NM_001267550.2(TTN):c.75708C>T (p.Asp25236=)
|
|
|
|
NM_001267550.2(TTN):c.75747C>T (p.Arg25249=)
|
rs2154168503
|
|
|
NM_001267550.2(TTN):c.75753T>C (p.Val25251=)
|
rs762251259
|
|
|
NM_001267550.2(TTN):c.75768T>C (p.Asp25256=)
|
|
|
|
NM_001267550.2(TTN):c.75786C>A (p.Leu25262=)
|
|
|
|
NM_001267550.2(TTN):c.75804G>A (p.Lys25268=)
|
|
|
|
NM_001267550.2(TTN):c.75828T>G (p.Thr25276=)
|
rs1575732608
|
|
|
NM_001267550.2(TTN):c.75841G>T (p.Ala25281Ser)
|
rs754787711
|
|
|
NM_001267550.2(TTN):c.7584C>G (p.Leu2528=)
|
rs2154344653
|
|
|
NM_001267550.2(TTN):c.75906T>C (p.Phe25302=)
|
rs2154168404
|
|
|
NM_001267550.2(TTN):c.75936A>G (p.Glu25312=)
|
rs560643672
|
|
|
NM_001267550.2(TTN):c.7594+15A>T
|
|
|
|
NM_001267550.2(TTN):c.7594+20T>C
|
|
|
|
NM_001267550.2(TTN):c.7594+20_7594+23del
|
rs768687530
|
|
|
NM_001267550.2(TTN):c.7595-10T>C
|
|
|
|
NM_001267550.2(TTN):c.7595-17T>C
|
|
|
|
NM_001267550.2(TTN):c.7595-7del
|
rs774519095
|
|
|
NM_001267550.2(TTN):c.75972A>G (p.Val25324=)
|
|
|
|
NM_001267550.2(TTN):c.75981A>G (p.Arg25327=)
|
rs2154168341
|
|
|
NM_001267550.2(TTN):c.75993T>C (p.Asp25331=)
|
|
|
|
NM_001267550.2(TTN):c.75996T>A (p.Gly25332=)
|
|
|
|
NM_001267550.2(TTN):c.76008T>C (p.Ile25336=)
|
rs753952895
|
|
|
NM_001267550.2(TTN):c.76044C>A (p.Gly25348=)
|
rs1707591921
|
|
|
NM_001267550.2(TTN):c.76062C>T (p.Cys25354=)
|
rs1483001698
|
|
|
NM_001267550.2(TTN):c.76065T>C (p.His25355=)
|
|
|
|
NM_001267550.2(TTN):c.76071T>C (p.Arg25357=)
|
|
|
|
NM_001267550.2(TTN):c.76074G>A (p.Leu25358=)
|
|
|
|
NM_001267550.2(TTN):c.76086G>A (p.Leu25362=)
|
|
|
|
NM_001267550.2(TTN):c.76092G>A (p.Leu25364=)
|
|
|
|
NM_001267550.2(TTN):c.76107C>G (p.Leu25369=)
|
|
|
|
NM_001267550.2(TTN):c.76107C>T (p.Leu25369=)
|
|
|
|
NM_001267550.2(TTN):c.76122T>C (p.Asp25374=)
|
rs1553602290
|
|
|
NM_001267550.2(TTN):c.76155T>C (p.Ala25385=)
|
rs1553602242
|
|
|
NM_001267550.2(TTN):c.76173C>T (p.Ser25391=)
|
|
|
|
NM_001267550.2(TTN):c.76179T>C (p.Pro25393=)
|
rs2154168168
|
|
|
NM_001267550.2(TTN):c.76248C>T (p.Asp25416=)
|
rs781781445
|
|
|
NM_001267550.2(TTN):c.76260T>C (p.Ser25420=)
|
rs2154168112
|
|
|
NM_001267550.2(TTN):c.76296T>C (p.Asp25432=)
|
rs868081432
|
|
|
NM_001267550.2(TTN):c.76305T>C (p.Cys25435=)
|
|
|
|
NM_001267550.2(TTN):c.76335T>C (p.Cys25445=)
|
|
|
|
NM_001267550.2(TTN):c.76350T>C (p.Gly25450=)
|
|
|
|
NM_001267550.2(TTN):c.76398A>C (p.Ile25466=)
|
|
|
|
NM_001267550.2(TTN):c.76414T>C (p.Leu25472=)
|
rs1316599129
|
|
|
NM_001267550.2(TTN):c.76467T>C (p.Val25489=)
|
rs751457831
|
|
|
NM_001267550.2(TTN):c.76473A>G (p.Glu25491=)
|
rs1362910750
|
|
|
NM_001267550.2(TTN):c.76488T>C (p.Pro25496=)
|
rs1295625019
|
|
|
NM_001267550.2(TTN):c.76506A>G (p.Glu25502=)
|
rs1575724281
|
|
|
NM_001267550.2(TTN):c.7653G>A (p.Val2551=)
|
rs776508792
|
|
|
NM_001267550.2(TTN):c.76549A>C (p.Arg25517=)
|
rs780584058
|
|
|
NM_001267550.2(TTN):c.76557C>A (p.Ile25519=)
|
|
|
|
NM_001267550.2(TTN):c.76563T>C (p.Asn25521=)
|
rs2154167890
|
|
|
NM_001267550.2(TTN):c.76566A>T (p.Ile25522=)
|
rs1390057481
|
|
|
NM_001267550.2(TTN):c.76590A>G (p.Leu25530=)
|
rs184034300
|
|
|
NM_001267550.2(TTN):c.76647T>C (p.Gly25549=)
|
|
|
|
NM_001267550.2(TTN):c.7666C>T (p.Leu2556=)
|
rs1554000213
|
|
|
NM_001267550.2(TTN):c.7668G>T (p.Leu2556=)
|
rs2154344543
|
|
|
NM_001267550.2(TTN):c.76746A>G (p.Thr25582=)
|
|
|
|
NM_001267550.2(TTN):c.76788G>T (p.Val25596=)
|
|
|
|
NM_001267550.2(TTN):c.76800C>T (p.Asp25600=)
|
rs1431857155
|
|
|
NM_001267550.2(TTN):c.76803G>A (p.Thr25601=)
|
rs751627427
|
|
|
NM_001267550.2(TTN):c.76803G>C (p.Thr25601=)
|
rs751627427
|
|
|
NM_001267550.2(TTN):c.76833A>T (p.Thr25611=)
|
|
|
|
NM_001267550.2(TTN):c.76851A>C (p.Ser25617=)
|
|
|
|
NM_001267550.2(TTN):c.76851A>G (p.Ser25617=)
|
|
|
|
NM_001267550.2(TTN):c.76860T>C (p.Ile25620=)
|
|
|
|
NM_001267550.2(TTN):c.76863A>C (p.Thr25621=)
|
|
|
|
NM_001267550.2(TTN):c.76863A>T (p.Thr25621=)
|
rs2154167646
|
|
|
NM_001267550.2(TTN):c.76878G>A (p.Leu25626=)
|
|
|
|
NM_001267550.2(TTN):c.76884T>C (p.Asp25628=)
|
|
|
|
NM_001267550.2(TTN):c.7692G>A (p.Leu2564=)
|
|
|
|
NM_001267550.2(TTN):c.76932A>G (p.Thr25644=)
|
rs2154167606
|
|
|
NM_001267550.2(TTN):c.76977T>C (p.Ser25659=)
|
rs1575718147
|
|
|
NM_001267550.2(TTN):c.76995C>G (p.Leu25665=)
|
|
|
|
NM_001267550.2(TTN):c.77007C>T (p.Cys25669=)
|
rs2154167540
|
|
|
NM_001267550.2(TTN):c.77013T>C (p.Tyr25671=)
|
rs397517707
|
|
|
NM_001267550.2(TTN):c.77019T>C (p.Phe25673=)
|
|
|
|
NM_001267550.2(TTN):c.77025C>A (p.Val25675=)
|
|
|
|
NM_001267550.2(TTN):c.77028A>G (p.Thr25676=)
|
rs2154167527
|
|
|
NM_001267550.2(TTN):c.77031T>C (p.Ala25677=)
|
|
|
|
NM_001267550.2(TTN):c.7704G>A (p.Lys2568=)
|
|
|
|
NM_001267550.2(TTN):c.77088A>G (p.Ala25696=)
|
|
|
|
NM_001267550.2(TTN):c.77094G>C (p.Val25698=)
|
|
|
|
NM_001267550.2(TTN):c.77133C>T (p.Thr25711=)
|
|
|
|
NM_001267550.2(TTN):c.77145C>G (p.Val25715=)
|
|
|
|
NM_001267550.2(TTN):c.77149C>T (p.Leu25717=)
|
|
|
|
NM_001267550.2(TTN):c.77190C>A (p.Ile25730=)
|
rs2154167385
|
|
|
NM_001267550.2(TTN):c.77248C>A (p.Arg25750=)
|
rs1575714442
|
|
|
NM_001267550.2(TTN):c.77283A>G (p.Leu25761=)
|
|
|
|
NM_001267550.2(TTN):c.77302C>A (p.Leu25768Ile)
|
rs541266544
|
|
|
NM_001267550.2(TTN):c.7731A>G (p.Lys2577=)
|
|
|
|
NM_001267550.2(TTN):c.77337A>G (p.Arg25779=)
|
rs1268101824
|
|
|
NM_001267550.2(TTN):c.7734T>C (p.Tyr2578=)
|
rs2154344511
|
|
|
NM_001267550.2(TTN):c.77373C>A (p.Ala25791=)
|
|
|
|
NM_001267550.2(TTN):c.77397T>C (p.Asp25799=)
|
rs2154167217
|
|
|
NM_001267550.2(TTN):c.77424T>C (p.Ser25808=)
|
|
|
|
NM_001267550.2(TTN):c.77460A>C (p.Pro25820=)
|
rs576663532
|
|
|
NM_001267550.2(TTN):c.7746A>G (p.Ala2582=)
|
rs2154344503
|
|
|
NM_001267550.2(TTN):c.77472T>A (p.Arg25824=)
|
rs753382360
|
|
|
NM_001267550.2(TTN):c.77484C>A (p.Thr25828=)
|
rs2154167156
|
|
|
NM_001267550.2(TTN):c.77511A>G (p.Pro25837=)
|
rs371581948
|
|
|
NM_001267550.2(TTN):c.77523C>T (p.Thr25841=)
|
rs1223149453
|
|
|
NM_001267550.2(TTN):c.77535T>C (p.Asn25845=)
|
|
|
|
NM_001267550.2(TTN):c.77541C>G (p.Thr25847=)
|
|
|
|
NM_001267550.2(TTN):c.77556C>T (p.Leu25852=)
|
rs2154167109
|
|
|
NM_001267550.2(TTN):c.77565C>T (p.Leu25855=)
|
rs1231044812
|
|
|
NM_001267550.2(TTN):c.77571T>C (p.Ile25857=)
|
rs879135756
|
|
|
NM_001267550.2(TTN):c.7761T>C (p.Tyr2587=)
|
|
|
|
NM_001267550.2(TTN):c.77640A>T (p.Thr25880=)
|
rs1471116492
|
|
|
NM_001267550.2(TTN):c.77646C>A (p.Ser25882=)
|
rs901702412
|
|
|
NM_001267550.2(TTN):c.7764A>G (p.Lys2588=)
|
rs1361032185
|
|
|
NM_001267550.2(TTN):c.77658A>G (p.Val25886=)
|
|
|
|
NM_001267550.2(TTN):c.77664A>G (p.Leu25888=)
|
|
|
|
NM_001267550.2(TTN):c.77673T>A (p.Pro25891=)
|
rs2154167010
|
|
|
NM_001267550.2(TTN):c.7767G>A (p.Leu2589=)
|
|
|
|
NM_001267550.2(TTN):c.77691T>C (p.Pro25897=)
|
rs2154166993
|
|
|
NM_001267550.2(TTN):c.77703T>C (p.Asp25901=)
|
|
|
|
NM_001267550.2(TTN):c.77727A>G (p.Thr25909=)
|
rs775905241
|
|
|
NM_001267550.2(TTN):c.77727A>T (p.Thr25909=)
|
|
|
|
NM_001267550.2(TTN):c.77746T>C (p.Leu25916=)
|
rs1243488306
|
|
|
NM_001267550.2(TTN):c.77757G>T (p.Gly25919=)
|
rs2154166947
|
|
|
NM_001267550.2(TTN):c.77772C>T (p.Thr25924=)
|
rs727505107
|
|
|
NM_001267550.2(TTN):c.77781T>A (p.Ile25927=)
|
|
|
|
NM_001267550.2(TTN):c.777G>A (p.Pro259=)
|
|
|
|
NM_001267550.2(TTN):c.77802C>A (p.Thr25934=)
|
|
|
|
NM_001267550.2(TTN):c.77802C>T (p.Thr25934=)
|
rs1575706418
|
|
|
NM_001267550.2(TTN):c.77805C>T (p.Thr25935=)
|
|
|
|
NM_001267550.2(TTN):c.77817T>C (p.Asp25939=)
|
rs752754298
|
|
|
NM_001267550.2(TTN):c.77847A>C (p.Thr25949=)
|
rs2154166864
|
|
|
NM_001267550.2(TTN):c.77910A>G (p.Arg25970=)
|
|
|
|
NM_001267550.2(TTN):c.77970A>G (p.Glu25990=)
|
rs532095547
|
|
|
NM_001267550.2(TTN):c.77976C>A (p.Gly25992=)
|
rs2154166787
|
|
|
NM_001267550.2(TTN):c.78024C>A (p.Val26008=)
|
|
|
|
NM_001267550.2(TTN):c.78030G>A (p.Gln26010=)
|
rs2154166749
|
|
|
NM_001267550.2(TTN):c.78045C>T (p.Val26015=)
|
|
|
|
NM_001267550.2(TTN):c.78054T>A (p.Gly26018=)
|
rs2154166736
|
|
|
NM_001267550.2(TTN):c.78057A>T (p.Gly26019=)
|
rs2154166734
|
|
|
NM_001267550.2(TTN):c.78068T>C (p.Ile26023Thr)
|
rs572384303
|
|
|
NM_001267550.2(TTN):c.78078C>T (p.His26026=)
|
rs1353297321
|
|
|
NM_001267550.2(TTN):c.780G>A (p.Lys260=)
|
|
|
|
NM_001267550.2(TTN):c.78108G>A (p.Leu26036=)
|
rs904868866
|
|
|
NM_001267550.2(TTN):c.78144C>T (p.Thr26048=)
|
rs1052638802
|
|
|
NM_001267550.2(TTN):c.78150C>T (p.Phe26050=)
|
rs906664730
|
|
|
NM_001267550.2(TTN):c.78156A>G (p.Ala26052=)
|
rs2154166667
|
|
|
NM_001267550.2(TTN):c.78159G>A (p.Gln26053=)
|
rs1475071129
|
|
|
NM_001267550.2(TTN):c.78174C>A (p.Gly26058=)
|
|
|
|
NM_001267550.2(TTN):c.78207T>C (p.Asn26069=)
|
rs2154166637
|
|
|
NM_001267550.2(TTN):c.78216T>C (p.Gly26072=)
|
rs2154166622
|
|
|
NM_001267550.2(TTN):c.78219A>G (p.Val26073=)
|
|
|
|
NM_001267550.2(TTN):c.78255C>T (p.Ala26085=)
|
|
|
|
NM_001267550.2(TTN):c.78279A>G (p.Gly26093=)
|
rs754287856
|
|
|
NM_001267550.2(TTN):c.78282C>T (p.Thr26094=)
|
|
|
|
NM_001267550.2(TTN):c.78318T>C (p.Thr26106=)
|
rs1553595901
|
|
|
NM_001267550.2(TTN):c.78399T>C (p.Gly26133=)
|
rs2154166484
|
|
|
NM_001267550.2(TTN):c.78423A>C (p.Thr26141=)
|
rs1390162762
|
|
|
NM_001267550.2(TTN):c.78447T>C (p.Thr26149=)
|
rs770182488
|
|
|
NM_001267550.2(TTN):c.78459T>C (p.Leu26153=)
|
|
|
|
NM_001267550.2(TTN):c.78477T>C (p.Tyr26159=)
|
rs371799242
|
|
|
NM_001267550.2(TTN):c.78480A>G (p.Glu26160=)
|
|
|
|
NM_001267550.2(TTN):c.78486A>G (p.Arg26162=)
|
rs1706400890
|
|
|
NM_001267550.2(TTN):c.78489C>A (p.Val26163=)
|
|
|
|
NM_001267550.2(TTN):c.78522A>G (p.Lys26174=)
|
rs2154166400
|
|
|
NM_001267550.2(TTN):c.78531C>T (p.Asp26177=)
|
rs1575697404
|
|
|
NM_001267550.2(TTN):c.78540A>C (p.Gly26180=)
|
rs1553594926
|
|
|
NM_001267550.2(TTN):c.78555G>A (p.Lys26185=)
|
|
|
|
NM_001267550.2(TTN):c.7856-14C>T
|
|
|
|
NM_001267550.2(TTN):c.7856-17C>T
|
|
|
|
NM_001267550.2(TTN):c.7856-18A>G
|
|
|
|
NM_001267550.2(TTN):c.7856-19T>C
|
|
|
|
NM_001267550.2(TTN):c.7856-22_7856-17del
|
rs2154343397
|
|
|
NM_001267550.2(TTN):c.7856-7T>C
|
|
|
|
NM_001267550.2(TTN):c.78561G>A (p.Glu26187=)
|
|
|
|
NM_001267550.2(TTN):c.7857T>C (p.Gly2619=)
|
|
|
|
NM_001267550.2(TTN):c.78642G>A (p.Glu26214=)
|
rs1553594406
|
|
|
NM_001267550.2(TTN):c.78651C>T (p.Val26217=)
|
|
|
|
NM_001267550.2(TTN):c.78669T>G (p.Pro26223=)
|
|
|
|
NM_001267550.2(TTN):c.78708A>G (p.Glu26236=)
|
rs1575695259
|
|
|
NM_001267550.2(TTN):c.78711T>A (p.Ser26237=)
|
rs727504808
|
|
|
NM_001267550.2(TTN):c.78711T>G (p.Ser26237=)
|
rs727504808
|
|
|
NM_001267550.2(TTN):c.78720T>C (p.Cys26240=)
|
rs974227290
|
|
|
NM_001267550.2(TTN):c.78762A>G (p.Lys26254=)
|
|
|
|
NM_001267550.2(TTN):c.78777T>C (p.Ile26259=)
|
|
|
|
NM_001267550.2(TTN):c.78786G>A (p.Gly26262=)
|
|
|
|
NM_001267550.2(TTN):c.7878C>G (p.Leu2626=)
|
|
|
|
NM_001267550.2(TTN):c.78801A>G (p.Arg26267=)
|
rs1373203200
|
|
|
NM_001267550.2(TTN):c.78816A>G (p.Ala26272=)
|
rs768044952
|
|
|
NM_001267550.2(TTN):c.78828A>G (p.Ser26276=)
|
|
|
|
NM_001267550.2(TTN):c.78834A>C (p.Pro26278=)
|
rs2154166193
|
|
|
NM_001267550.2(TTN):c.78837A>G (p.Val26279=)
|
rs777343548
|
|
|
NM_001267550.2(TTN):c.78849A>G (p.Val26283=)
|
|
|
|
NM_001267550.2(TTN):c.78870A>T (p.Pro26290=)
|
rs1170304123
|
|
|
NM_001267550.2(TTN):c.78873A>G (p.Glu26291=)
|
|
|
|
NM_001267550.2(TTN):c.78876G>T (p.Gly26292=)
|
|
|
|
NM_001267550.2(TTN):c.78879A>T (p.Pro26293=)
|
|
|
|
NM_001267550.2(TTN):c.78891T>C (p.Thr26297=)
|
rs751434489
|
|
|
NM_001267550.2(TTN):c.7890C>T (p.Thr2630=)
|
rs144247127
|
|
|
NM_001267550.2(TTN):c.78972T>C (p.Val26324=)
|
|
|
|
NM_001267550.2(TTN):c.79026G>A (p.Val26342=)
|
rs1559358175
|
|
|
NM_001267550.2(TTN):c.7902C>A (p.Ser2634=)
|
rs1553997365
|
|
|
NM_001267550.2(TTN):c.79032T>C (p.Asn26344=)
|
rs2154166066
|
|
|
NM_001267550.2(TTN):c.79071T>C (p.Tyr26357=)
|
rs2154166032
|
|
|
NM_001267550.2(TTN):c.79101T>C (p.Tyr26367=)
|
rs1057522307
|
|
|
NM_001267550.2(TTN):c.79107T>C (p.Val26369=)
|
|
|
|
NM_001267550.2(TTN):c.79128A>G (p.Ala26376=)
|
|
|
|
NM_001267550.2(TTN):c.79137A>T (p.Leu26379=)
|
|
|
|
NM_001267550.2(TTN):c.7914G>C (p.Val2638=)
|
rs770287473
|
|
|
NM_001267550.2(TTN):c.79203C>T (p.Asp26401=)
|
rs1022970267
|
|
|
NM_001267550.2(TTN):c.79233T>C (p.Asp26411=)
|
|
|
|
NM_001267550.2(TTN):c.79239T>C (p.Asp26413=)
|
rs2154165906
|
|
|
NM_001267550.2(TTN):c.79254T>C (p.Ile26418=)
|
|
|
|
NM_001267550.2(TTN):c.79266T>C (p.Ile26422=)
|
rs1706067080
|
|
|
NM_001267550.2(TTN):c.79326A>G (p.Thr26442=)
|
rs768851060
|
|
|
NM_001267550.2(TTN):c.79329T>C (p.Asp26443=)
|
rs372127556
|
|
|
NM_001267550.2(TTN):c.79335T>C (p.Arg26445=)
|
|
|
|
NM_001267550.2(TTN):c.7935C>T (p.Asn2645=)
|
|
|
|
NM_001267550.2(TTN):c.79365T>C (p.His26455=)
|
rs1060503925
|
|
|
NM_001267550.2(TTN):c.79449T>C (p.Asp26483=)
|
|
|
|
NM_001267550.2(TTN):c.79467C>T (p.Gly26489=)
|
|
|
|
NM_001267550.2(TTN):c.79482A>G (p.Ala26494=)
|
rs1350090724
|
|
|
NM_001267550.2(TTN):c.79491A>G (p.Val26497=)
|
rs2154165749
|
|
|
NM_001267550.2(TTN):c.79497C>A (p.Thr26499=)
|
rs2154165738
|
|
|
NM_001267550.2(TTN):c.7953A>G (p.Glu2651=)
|
rs2154343335
|
|
|
NM_001267550.2(TTN):c.79542T>C (p.Asp26514=)
|
rs1553589231
|
|
|
NM_001267550.2(TTN):c.79569A>G (p.Val26523=)
|
|
|
|
NM_001267550.2(TTN):c.79578C>T (p.Ile26526=)
|
rs1178817671
|
|
|
NM_001267550.2(TTN):c.7959G>A (p.Leu2653=)
|
|
|
|
NM_001267550.2(TTN):c.79608A>T (p.Ile26536=)
|
rs2154165655
|
|
|
NM_001267550.2(TTN):c.79614T>G (p.Thr26538=)
|
rs2154165640
|
|
|
NM_001267550.2(TTN):c.79629G>T (p.Leu26543=)
|
rs2154165628
|
|
|
NM_001267550.2(TTN):c.79638T>C (p.Thr26546=)
|
rs1382501215
|
|
|
NM_001267550.2(TTN):c.79639C>A (p.Arg26547=)
|
rs2154165620
|
|
|
NM_001267550.2(TTN):c.79653A>G (p.Ser26551=)
|
rs2154165615
|
|
|
NM_001267550.2(TTN):c.79662T>C (p.Thr26554=)
|
rs1575684079
|
|
|
NM_001267550.2(TTN):c.79695C>T (p.Ala26565=)
|
rs1575683593
|
|
|
NM_001267550.2(TTN):c.79716T>C (p.Gly26572=)
|
rs2154165551
|
|
|
NM_001267550.2(TTN):c.79734T>C (p.Pro26578=)
|
|
|
|
NM_001267550.2(TTN):c.7974C>T (p.His2658=)
|
|
|
|
NM_001267550.2(TTN):c.79785C>T (p.Asp26595=)
|
rs1553587704
|
|
|
NM_001267550.2(TTN):c.79792T>C (p.Leu26598=)
|
rs2154165510
|
|
|
NM_001267550.2(TTN):c.79806T>A (p.Ile26602=)
|
|
|
|
NM_001267550.2(TTN):c.79806T>C (p.Ile26602=)
|
rs770125328
|
|
|
NM_001267550.2(TTN):c.79809T>C (p.Val26603=)
|
rs1398566946
|
|
|
NM_001267550.2(TTN):c.7986T>A (p.Thr2662=)
|
rs2154343329
|
|
|
NM_001267550.2(TTN):c.79883G>A (p.Arg26628Gln)
|
rs201091376
|
|
|
NM_001267550.2(TTN):c.79902A>C (p.Thr26634=)
|
|
|
|
NM_001267550.2(TTN):c.79962T>C (p.Asp26654=)
|
|
|
|
NM_001267550.2(TTN):c.79968T>C (p.Asn26656=)
|
|
|
|
NM_001267550.2(TTN):c.79977A>C (p.Gly26659=)
|
|
|
|
NM_001267550.2(TTN):c.79983C>T (p.Tyr26661=)
|
rs1476923696
|
|
|
NM_001267550.2(TTN):c.80025T>C (p.Phe26675=)
|
|
|
|
NM_001267550.2(TTN):c.80046C>T (p.Asp26682=)
|
rs2154165320
|
|
|
NM_001267550.2(TTN):c.80068T>C (p.Leu26690=)
|
|
|
|
NM_001267550.2(TTN):c.80070G>A (p.Leu26690=)
|
|
|
|
NM_001267550.2(TTN):c.80118A>G (p.Pro26706=)
|
|
|
|
NM_001267550.2(TTN):c.80130T>C (p.Asp26710=)
|
rs2154165269
|
|
|
NM_001267550.2(TTN):c.80139A>G (p.Ala26713=)
|
|
|
|
NM_001267550.2(TTN):c.80157G>A (p.Val26719=)
|
|
|
|
NM_001267550.2(TTN):c.80175A>G (p.Ser26725=)
|
|
|
|
NM_001267550.2(TTN):c.80187G>C (p.Ala26729=)
|
rs779833666
|
|
|
NM_001267550.2(TTN):c.801A>G (p.Thr267=)
|
rs1574979042
|
|
|
NM_001267550.2(TTN):c.80202T>C (p.Ser26734=)
|
|
|
|
NM_001267550.2(TTN):c.80205T>C (p.Ser26735=)
|
|
|
|
NM_001267550.2(TTN):c.80250A>G (p.Gly26750=)
|
rs943041818
|
|
|
NM_001267550.2(TTN):c.80253C>A (p.Ala26751=)
|
|
|
|
NM_001267550.2(TTN):c.80253C>T (p.Ala26751=)
|
|
|
|
NM_001267550.2(TTN):c.80298T>C (p.Gly26766=)
|
rs2154165127
|
|
|
NM_001267550.2(TTN):c.80304A>G (p.Pro26768=)
|
rs1575676334
|
|
|
NM_001267550.2(TTN):c.8031C>A (p.Ile2677=)
|
rs781305479
|
|
|
NM_001267550.2(TTN):c.80325G>A (p.Val26775=)
|
|
|
|
NM_001267550.2(TTN):c.80355A>G (p.Gly26785=)
|
|
|
|
NM_001267550.2(TTN):c.80367C>T (p.Leu26789=)
|
|
|
|
NM_001267550.2(TTN):c.80370T>C (p.Thr26790=)
|
|
|
|
NM_001267550.2(TTN):c.80376G>A (p.Val26792=)
|
|
|
|
NM_001267550.2(TTN):c.8037T>C (p.Ala2679=)
|
rs2154343302
|
|
|
NM_001267550.2(TTN):c.80391A>G (p.Ala26797=)
|
|
|
|
NM_001267550.2(TTN):c.80397T>C (p.Leu26799=)
|
|
|
|
NM_001267550.2(TTN):c.80405A>G (p.Glu26802Gly)
|
|
|
|
NM_001267550.2(TTN):c.80433A>G (p.Arg26811=)
|
|
|
|
NM_001267550.2(TTN):c.80439G>A (p.Leu26813=)
|
|
|
|
NM_001267550.2(TTN):c.8043C>T (p.Thr2681=)
|
rs776839697
|
|
|
NM_001267550.2(TTN):c.80451T>C (p.Val26817=)
|
|
|
|
NM_001267550.2(TTN):c.80472T>C (p.Thr26824=)
|
rs2154164985
|
|
|
NM_001267550.2(TTN):c.804A>C (p.Pro268=)
|
|
|
|
NM_001267550.2(TTN):c.80520T>G (p.Val26840=)
|
|
|
|
NM_001267550.2(TTN):c.8052T>C (p.Asp2684=)
|
rs2154343299
|
|
|
NM_001267550.2(TTN):c.80571T>C (p.Asn26857=)
|
rs2154164904
|
|
|
NM_001267550.2(TTN):c.80574G>A (p.Glu26858=)
|
|
|
|
NM_001267550.2(TTN):c.80595A>G (p.Arg26865=)
|
rs878865997
|
|
|
NM_001267550.2(TTN):c.80622G>A (p.Lys26874=)
|
|
|
|
NM_001267550.2(TTN):c.80628G>A (p.Leu26876=)
|
|
|
|
NM_001267550.2(TTN):c.80664A>G (p.Thr26888=)
|
|
|
|
NM_001267550.2(TTN):c.80667T>C (p.Tyr26889=)
|
|
|
|
NM_001267550.2(TTN):c.80754G>A (p.Glu26918=)
|
|
|
|
NM_001267550.2(TTN):c.80784T>G (p.Val26928=)
|
rs1705349276
|
|
|
NM_001267550.2(TTN):c.807G>C (p.Pro269=)
|
rs779966449
|
|
|
NM_001267550.2(TTN):c.807G>T (p.Pro269=)
|
|
|
|
NM_001267550.2(TTN):c.80814C>T (p.His26938=)
|
|
|
|
NM_001267550.2(TTN):c.8082C>T (p.Ala2694=)
|
|
|
|
NM_001267550.2(TTN):c.80835T>C (p.Asp26945=)
|
rs2154164539
|
|
|
NM_001267550.2(TTN):c.80850C>T (p.Tyr26950=)
|
rs794729291
|
|
|
NM_001267550.2(TTN):c.80853C>T (p.Thr26951=)
|
|
|
|
NM_001267550.2(TTN):c.80877C>T (p.Gly26959=)
|
|
|
|
NM_001267550.2(TTN):c.80892T>C (p.Asn26964=)
|
|
|
|
NM_001267550.2(TTN):c.80941C>A (p.Arg26981=)
|
rs779878975
|
|
|
NM_001267550.2(TTN):c.80943G>A (p.Arg26981=)
|
|
|
|
NM_001267550.2(TTN):c.80964C>T (p.Asp26988=)
|
rs755899399
|
|
|
NM_001267550.2(TTN):c.80973C>G (p.Val26991=)
|
|
|
|
NM_001267550.2(TTN):c.80979T>A (p.Ser26993=)
|
|
|
|
NM_001267550.2(TTN):c.80994C>T (p.Ala26998=)
|
rs2154164114
|
|
|
NM_001267550.2(TTN):c.81000T>C (p.Thr27000=)
|
|
|
|
NM_001267550.2(TTN):c.81018C>T (p.Ser27006=)
|
|
|
|
NM_001267550.2(TTN):c.810T>C (p.Ser270=)
|
|
|
|
NM_001267550.2(TTN):c.81117A>C (p.Thr27039=)
|
|
|
|
NM_001267550.2(TTN):c.8116+10A>G
|
|
|
|
NM_001267550.2(TTN):c.8116+11T>C
|
|
|
|
NM_001267550.2(TTN):c.8116+13G>A
|
rs2154343257
|
|
|
NM_001267550.2(TTN):c.8116+19_8116+25del
|
rs749535927
|
|
|
NM_001267550.2(TTN):c.81162A>G (p.Gly27054=)
|
rs1553579246
|
|
|
NM_001267550.2(TTN):c.8117-20A>G
|
|
|
|
NM_001267550.2(TTN):c.8117-4T>C
|
rs2154342961
|
|
|
NM_001267550.2(TTN):c.81177G>A (p.Leu27059=)
|
rs2154163730
|
|
|
NM_001267550.2(TTN):c.81186G>A (p.Lys27062=)
|
|
|
|
NM_001267550.2(TTN):c.81192T>C (p.Val27064=)
|
|
|
|
NM_001267550.2(TTN):c.81249A>G (p.Ser27083=)
|
rs1553578905
|
|
|
NM_001267550.2(TTN):c.81273G>A (p.Val27091=)
|
rs780121454
|
|
|
NM_001267550.2(TTN):c.81315T>C (p.Ile27105=)
|
|
|
|
NM_001267550.2(TTN):c.81318C>G (p.Gly27106=)
|
|
|
|
NM_001267550.2(TTN):c.81324T>C (p.His27108=)
|
|
|
|
NM_001267550.2(TTN):c.81327T>C (p.Leu27109=)
|
|
|
|
NM_001267550.2(TTN):c.81342G>A (p.Lys27114=)
|
|
|
|
NM_001267550.2(TTN):c.81354A>G (p.Leu27118=)
|
|
|
|
NM_001267550.2(TTN):c.81381T>A (p.Ile27127=)
|
rs1553578131
|
|
|
NM_001267550.2(TTN):c.81387C>T (p.Asp27129=)
|
rs2154163220
|
|
|
NM_001267550.2(TTN):c.81393A>G (p.Lys27131=)
|
rs374501251
|
|
|
NM_001267550.2(TTN):c.81402A>T (p.Thr27134=)
|
|
|
|
NM_001267550.2(TTN):c.81408G>A (p.Gly27136=)
|
|
|
|
NM_001267550.2(TTN):c.81417G>A (p.Glu27139=)
|
|
|
|
NM_001267550.2(TTN):c.8142G>A (p.Lys2714=)
|
rs1574572433
|
|
|
NM_001267550.2(TTN):c.81432G>A (p.Glu27144=)
|
rs1060503944
|
|
|
NM_001267550.2(TTN):c.81453T>C (p.Asn27151=)
|
rs2154163084
|
|
|
NM_001267550.2(TTN):c.81486A>G (p.Ser27162=)
|
|
|
|
NM_001267550.2(TTN):c.81504T>C (p.Arg27168=)
|
|
|
|
NM_001267550.2(TTN):c.81510A>C (p.Pro27170=)
|
rs1704993259
|
|
|
NM_001267550.2(TTN):c.81561C>A (p.Val27187=)
|
rs923164775
|
|
|
NM_001267550.2(TTN):c.81565C>T (p.Leu27189=)
|
rs142391957
|
|
|
NM_001267550.2(TTN):c.81579A>G (p.Lys27193=)
|
rs565307960
|
|
|
NM_001267550.2(TTN):c.81588T>C (p.Tyr27196=)
|
|
|
|
NM_001267550.2(TTN):c.81600C>T (p.Ser27200=)
|
|
|
|
NM_001267550.2(TTN):c.81609A>G (p.Thr27203=)
|
rs1704949821
|
|
|
NM_001267550.2(TTN):c.81618T>C (p.Ile27206=)
|
rs781760454
|
|
|
NM_001267550.2(TTN):c.81663C>T (p.Ser27221=)
|
rs1399668147
|
|
|
NM_001267550.2(TTN):c.81687A>G (p.Glu27229=)
|
rs1575659279
|
|
|
NM_001267550.2(TTN):c.81699T>C (p.Ser27233=)
|
|
|
|
NM_001267550.2(TTN):c.81711A>G (p.Glu27237=)
|
rs1553576452
|
|
|
NM_001267550.2(TTN):c.81729T>C (p.Phe27243=)
|
|
|
|
NM_001267550.2(TTN):c.81753T>A (p.Ala27251=)
|
rs780512171
|
|
|
NM_001267550.2(TTN):c.81753T>C (p.Ala27251=)
|
|
|
|
NM_001267550.2(TTN):c.81756A>C (p.Gly27252=)
|
rs2154162607
|
|
|
NM_001267550.2(TTN):c.81762T>C (p.Phe27254=)
|
rs958378883
|
|
|
NM_001267550.2(TTN):c.81771A>G (p.Pro27257=)
|
|
|
|
NM_001267550.2(TTN):c.81774T>G (p.Ser27258=)
|
|
|
|
NM_001267550.2(TTN):c.81780T>C (p.Ser27260=)
|
rs1463389472
|
|
|
NM_001267550.2(TTN):c.81783T>C (p.Ser27261=)
|
rs2154162553
|
|
|
NM_001267550.2(TTN):c.8178C>T (p.Phe2726=)
|
rs148324011
|
|
|
NM_001267550.2(TTN):c.81801A>G (p.Arg27267=)
|
|
|
|
NM_001267550.2(TTN):c.81804T>C (p.Asp27268=)
|
|
|
|
NM_001267550.2(TTN):c.81810T>C (p.Ile27270=)
|
rs971963708
|
|
|
NM_001267550.2(TTN):c.8181T>C (p.Thr2727=)
|
|
|
|
NM_001267550.2(TTN):c.81843T>C (p.Tyr27281=)
|
rs2154162424
|
|
|
NM_001267550.2(TTN):c.8184C>G (p.Val2728=)
|
rs753356474
|
|
|
NM_001267550.2(TTN):c.81867A>G (p.Ala27289=)
|
rs1258872669
|
|
|
NM_001267550.2(TTN):c.81879T>C (p.Phe27293=)
|
|
|
|
NM_001267550.2(TTN):c.81897C>A (p.Ile27299=)
|
|
|
|
NM_001267550.2(TTN):c.81909T>C (p.Pro27303=)
|
|
|
|
NM_001267550.2(TTN):c.81915T>G (p.Pro27305=)
|
|
|
|
NM_001267550.2(TTN):c.81918T>C (p.Asp27306=)
|
rs764340182
|
|
|
NM_001267550.2(TTN):c.81921T>C (p.Val27307=)
|
|
|
|
NM_001267550.2(TTN):c.81936T>C (p.Asp27312=)
|
rs2154162187
|
|
|
NM_001267550.2(TTN):c.81978A>G (p.Lys27326=)
|
rs2154162117
|
|
|
NM_001267550.2(TTN):c.81999T>C (p.Thr27333=)
|
|
|
|
NM_001267550.2(TTN):c.8199T>G (p.Pro2733=)
|
|
|
|
NM_001267550.2(TTN):c.81T>A (p.Ala27=)
|
rs1466566297
|
|
|
NM_001267550.2(TTN):c.82005T>C (p.Val27335=)
|
rs2154162061
|
|
|
NM_001267550.2(TTN):c.8202T>C (p.Asn2734=)
|
|
|
|
NM_001267550.2(TTN):c.82032A>T (p.Gly27344=)
|
rs2154162008
|
|
|
NM_001267550.2(TTN):c.82065T>G (p.Gly27355=)
|
rs1457152868
|
|
|
NM_001267550.2(TTN):c.82086C>T (p.Ile27362=)
|
|
|
|
NM_001267550.2(TTN):c.82098A>C (p.Val27366=)
|
rs2154161892
|
|
|
NM_001267550.2(TTN):c.82122A>G (p.Glu27374=)
|
|
|
|
NM_001267550.2(TTN):c.82125G>A (p.Gly27375=)
|
|
|
|
NM_001267550.2(TTN):c.82125G>T (p.Gly27375=)
|
rs1020962821
|
|
|
NM_001267550.2(TTN):c.82128T>C (p.Pro27376=)
|
rs1704684126
|
|
|
NM_001267550.2(TTN):c.82129C>T (p.Leu27377=)
|
rs1422858793
|
|
|
NM_001267550.2(TTN):c.82131G>A (p.Leu27377=)
|
|
|
|
NM_001267550.2(TTN):c.82137T>A (p.Val27379=)
|
rs2154161815
|
|
|
NM_001267550.2(TTN):c.82140T>C (p.Thr27380=)
|
rs2154161809
|
|
|
NM_001267550.2(TTN):c.82167G>T (p.Leu27389=)
|
|
|
|
NM_001267550.2(TTN):c.82215C>T (p.Tyr27405=)
|
rs2154161754
|
|
|
NM_001267550.2(TTN):c.82218C>T (p.Ile27406=)
|
|
|
|
NM_001267550.2(TTN):c.82235C>A (p.Thr27412Lys)
|
rs201489661
|
|
|
NM_001267550.2(TTN):c.82245C>A (p.Leu27415=)
|
rs1270012383
|
|
|
NM_001267550.2(TTN):c.82245C>T (p.Leu27415=)
|
rs1270012383
|
|
|
NM_001267550.2(TTN):c.82254C>T (p.Thr27418=)
|
rs763746509
|
|
|
NM_001267550.2(TTN):c.82278C>T (p.Ala27426=)
|
|
|
|
NM_001267550.2(TTN):c.82308T>C (p.Pro27436=)
|
|
|
|
NM_001267550.2(TTN):c.82314T>C (p.Asn27438=)
|
rs2154161680
|
|
|
NM_001267550.2(TTN):c.8231G>C (p.Gly2744Ala)
|
rs556908341
|
|
|
NM_001267550.2(TTN):c.82350T>C (p.Tyr27450=)
|
rs1060503941
|
|
|
NM_001267550.2(TTN):c.82366T>C (p.Leu27456=)
|
rs2154161643
|
|
|
NM_001267550.2(TTN):c.82383T>G (p.Val27461=)
|
|
|
|
NM_001267550.2(TTN):c.82434C>A (p.Val27478=)
|
rs1473097574
|
|
|
NM_001267550.2(TTN):c.82440A>C (p.Ala27480=)
|
|
|
|
NM_001267550.2(TTN):c.82482A>G (p.Val27494=)
|
|
|
|
NM_001267550.2(TTN):c.82518T>C (p.Leu27506=)
|
|
|
|
NM_001267550.2(TTN):c.8253A>G (p.Glu2751=)
|
rs1574570701
|
|
|
NM_001267550.2(TTN):c.82545A>G (p.Arg27515=)
|
|
|
|
NM_001267550.2(TTN):c.82557C>T (p.Cys27519=)
|
|
|
|
NM_001267550.2(TTN):c.82566A>G (p.Lys27522=)
|
rs1704491660
|
|
|
NM_001267550.2(TTN):c.82584G>A (p.Arg27528=)
|
rs1704483263
|
|
|
NM_001267550.2(TTN):c.82584G>C (p.Arg27528=)
|
|
|
|
NM_001267550.2(TTN):c.82587C>A (p.Leu27529=)
|
|
|
|
NM_001267550.2(TTN):c.82602T>C (p.Leu27534=)
|
rs760443248
|
|
|
NM_001267550.2(TTN):c.82605C>G (p.Thr27535=)
|
rs772246177
|
|
|
NM_001267550.2(TTN):c.82605C>T (p.Thr27535=)
|
rs772246177
|
|
|
NM_001267550.2(TTN):c.82611C>T (p.Gly27537=)
|
|
|
|
NM_001267550.2(TTN):c.82620T>C (p.Tyr27540=)
|
|
|
|
NM_001267550.2(TTN):c.82623A>G (p.Glu27541=)
|
|
|
|
NM_001267550.2(TTN):c.82629A>G (p.Arg27543=)
|
|
|
|
NM_001267550.2(TTN):c.82653T>A (p.Gly27551=)
|
rs1575647598
|
|
|
NM_001267550.2(TTN):c.82665T>G (p.Pro27555=)
|
|
|
|
NM_001267550.2(TTN):c.82668T>C (p.Ser27556=)
|
|
|
|
NM_001267550.2(TTN):c.82671G>A (p.Glu27557=)
|
rs1276281571
|
|
|
NM_001267550.2(TTN):c.82686C>T (p.Tyr27562=)
|
rs1361088942
|
|
|
NM_001267550.2(TTN):c.82776T>C (p.Ser27592=)
|
rs1553571817
|
|
|
NM_001267550.2(TTN):c.82785T>C (p.Ile27595=)
|
|
|
|
NM_001267550.2(TTN):c.82803T>C (p.Pro27601=)
|
|
|
|
NM_001267550.2(TTN):c.82818T>C (p.Val27606=)
|
rs755992326
|
|
|
NM_001267550.2(TTN):c.82857C>T (p.Thr27619=)
|
rs1575645074
|
|
|
NM_001267550.2(TTN):c.8286C>T (p.Tyr2762=)
|
rs1574570125
|
|
|
NM_001267550.2(TTN):c.8289T>A (p.Ser2763=)
|
|
|
|
NM_001267550.2(TTN):c.82902C>T (p.Thr27634=)
|
rs2154161213
|
|
|
NM_001267550.2(TTN):c.8290C>T (p.Leu2764=)
|
|
|
|
NM_001267550.2(TTN):c.82947C>T (p.Ile27649=)
|
rs1575643829
|
|
|
NM_001267550.2(TTN):c.8295G>A (p.Arg2765=)
|
|
|
|
NM_001267550.2(TTN):c.82980A>C (p.Leu27660=)
|
rs760972930
|
|
|
NM_001267550.2(TTN):c.82980A>G (p.Leu27660=)
|
|
|
|
NM_001267550.2(TTN):c.83004G>A (p.Glu27668=)
|
rs1575643277
|
|
|
NM_001267550.2(TTN):c.83013G>A (p.Glu27671=)
|
|
|
|
NM_001267550.2(TTN):c.8301A>G (p.Lys2767=)
|
rs2154342880
|
|
|
NM_001267550.2(TTN):c.83044A>C (p.Arg27682=)
|
|
|
|
NM_001267550.2(TTN):c.83055C>T (p.Val27685=)
|
|
|
|
NM_001267550.2(TTN):c.83061G>A (p.Leu27687=)
|
|
|
|
NM_001267550.2(TTN):c.83103T>C (p.Gly27701=)
|
rs941715581
|
|
|
NM_001267550.2(TTN):c.83136A>C (p.Ala27712=)
|
|
|
|
NM_001267550.2(TTN):c.8313C>A (p.Ile2771=)
|
|
|
|
NM_001267550.2(TTN):c.8313C>T (p.Ile2771=)
|
rs576644663
|
|
|
NM_001267550.2(TTN):c.83191T>C (p.Leu27731=)
|
rs886039101
|
|
|
NM_001267550.2(TTN):c.83212A>C (p.Arg27738=)
|
|
|
|
NM_001267550.2(TTN):c.83250T>C (p.Asn27750=)
|
|
|
|
NM_001267550.2(TTN):c.83280C>T (p.Asn27760=)
|
rs1435031798
|
|
|
NM_001267550.2(TTN):c.83295C>T (p.Asp27765=)
|
rs1385922994
|
|
|
NM_001267550.2(TTN):c.83307C>T (p.Ala27769=)
|
|
|
|
NM_001267550.2(TTN):c.83328A>G (p.Arg27776=)
|
|
|
|
NM_001267550.2(TTN):c.83337G>A (p.Lys27779=)
|
|
|
|
NM_001267550.2(TTN):c.83355G>A (p.Leu27785=)
|
rs1366351874
|
|
|
NM_001267550.2(TTN):c.83358C>T (p.Ser27786=)
|
|
|
|
NM_001267550.2(TTN):c.83364A>G (p.Glu27788=)
|
|
|
|
NM_001267550.2(TTN):c.83379T>C (p.Asp27793=)
|
|
|
|
NM_001267550.2(TTN):c.83382T>C (p.Gly27794=)
|
|
|
|
NM_001267550.2(TTN):c.83412A>G (p.Glu27804=)
|
|
|
|
NM_001267550.2(TTN):c.83457T>C (p.Asn27819=)
|
rs768758920
|
|
|
NM_001267550.2(TTN):c.83460C>T (p.Cys27820=)
|
rs2154160885
|
|
|
NM_001267550.2(TTN):c.83463T>C (p.Thr27821=)
|
|
|
|
NM_001267550.2(TTN):c.83493A>G (p.Gln27831=)
|
|
|
|
NM_001267550.2(TTN):c.8349G>A (p.Arg2783=)
|
|
|
|
NM_001267550.2(TTN):c.83521T>C (p.Leu27841=)
|
|
|
|
NM_001267550.2(TTN):c.83526T>G (p.Ala27842=)
|
rs539533062
|
|
|
NM_001267550.2(TTN):c.83541G>A (p.Gly27847=)
|
|
|
|
NM_001267550.2(TTN):c.83562A>C (p.Thr27854=)
|
rs1704092253
|
|
|
NM_001267550.2(TTN):c.83580G>T (p.Val27860=)
|
|
|
|
NM_001267550.2(TTN):c.83583T>C (p.Ser27861=)
|
|
|
|
NM_001267550.2(TTN):c.83592C>G (p.Pro27864=)
|
rs760755965
|
|
|
NM_001267550.2(TTN):c.83634T>C (p.Asn27878=)
|
|
|
|
NM_001267550.2(TTN):c.83640T>C (p.Ala27880=)
|
|
|
|
NM_001267550.2(TTN):c.83688T>C (p.Thr27896=)
|
|
|
|
NM_001267550.2(TTN):c.83691T>C (p.Gly27897=)
|
|
|
|
NM_001267550.2(TTN):c.83709G>A (p.Gln27903=)
|
|
|
|
NM_001267550.2(TTN):c.8370G>A (p.Leu2790=)
|
|
|
|
NM_001267550.2(TTN):c.8373C>T (p.His2791=)
|
rs566816279
|
|
|
NM_001267550.2(TTN):c.83751G>A (p.Lys27917=)
|
rs746705899
|
|
|
NM_001267550.2(TTN):c.83775C>T (p.Gly27925=)
|
rs763936394
|
|
|
NM_001267550.2(TTN):c.83796T>C (p.Tyr27932=)
|
rs2154160668
|
|
|
NM_001267550.2(TTN):c.83799C>T (p.Val27933=)
|
rs1575633514
|
|
|
NM_001267550.2(TTN):c.837G>T (p.Arg279=)
|
rs2154358493
|
|
|
NM_001267550.2(TTN):c.8380+12T>C
|
|
|
|
NM_001267550.2(TTN):c.8380+13A>G
|
|
|
|
NM_001267550.2(TTN):c.8380+14G>C
|
|
|
|
NM_001267550.2(TTN):c.8380+19A>G
|
|
|
|
NM_001267550.2(TTN):c.8380+20C>G
|
|
|
|
NM_001267550.2(TTN):c.83805G>A (p.Arg27935=)
|
rs1575633484
|
|
|
NM_001267550.2(TTN):c.8381-11T>C
|
|
|
|
NM_001267550.2(TTN):c.8381-18C>T
|
|
|
|
NM_001267550.2(TTN):c.8381-4T>C
|
rs767331652
|
|
|
NM_001267550.2(TTN):c.8381-7C>G
|
|
|
|
NM_001267550.2(TTN):c.83811T>C (p.Ala27937=)
|
|
|
|
NM_001267550.2(TTN):c.83817T>A (p.Val27939=)
|
|
|
|
NM_001267550.2(TTN):c.83832A>G (p.Arg27944=)
|
|
|
|
NM_001267550.2(TTN):c.83835T>C (p.Ser27945=)
|
rs2154160647
|
|
|
NM_001267550.2(TTN):c.83859A>C (p.Pro27953=)
|
|
|
|
NM_001267550.2(TTN):c.83892A>G (p.Ser27964=)
|
|
|
|
NM_001267550.2(TTN):c.83904T>G (p.Pro27968=)
|
rs2154160608
|
|
|
NM_001267550.2(TTN):c.83937A>G (p.Gln27979=)
|
rs2154160588
|
|
|
NM_001267550.2(TTN):c.83940T>C (p.Leu27980=)
|
rs1703927825
|
|
|
NM_001267550.2(TTN):c.83982G>A (p.Val27994=)
|
|
|
|
NM_001267550.2(TTN):c.8400G>A (p.Lys2800=)
|
rs2154342777
|
|
|
NM_001267550.2(TTN):c.84033T>G (p.Val28011=)
|
|
|
|
NM_001267550.2(TTN):c.84036T>C (p.Ser28012=)
|
|
|
|
NM_001267550.2(TTN):c.84057A>G (p.Ser28019=)
|
|
|
|
NM_001267550.2(TTN):c.84135A>G (p.Thr28045=)
|
rs2154160390
|
|
|
NM_001267550.2(TTN):c.84153T>C (p.Ile28051=)
|
rs1553566157
|
|
|
NM_001267550.2(TTN):c.84156C>T (p.Val28052=)
|
|
|
|
NM_001267550.2(TTN):c.84159T>G (p.Leu28053=)
|
|
|
|
NM_001267550.2(TTN):c.84171A>G (p.Gly28057=)
|
|
|
|
NM_001267550.2(TTN):c.84177A>G (p.Pro28059=)
|
|
|
|
NM_001267550.2(TTN):c.8421G>A (p.Leu2807=)
|
|
|
|
NM_001267550.2(TTN):c.84255C>T (p.Cys28085=)
|
|
|
|
NM_001267550.2(TTN):c.84264C>T (p.Ser28088=)
|
rs2154160206
|
|
|
NM_001267550.2(TTN):c.84285A>G (p.Lys28095=)
|
|
|
|
NM_001267550.2(TTN):c.84309C>T (p.His28103=)
|
rs749278779
|
|
|
NM_001267550.2(TTN):c.84351T>C (p.Val28117=)
|
|
|
|
NM_001267550.2(TTN):c.84387T>C (p.Val28129=)
|
|
|
|
NM_001267550.2(TTN):c.84390T>C (p.Cys28130=)
|
rs745619613
|
|
|
NM_001267550.2(TTN):c.843G>A (p.Gln281=)
|
|
|
|
NM_001267550.2(TTN):c.84438T>C (p.Val28146=)
|
|
|
|
NM_001267550.2(TTN):c.84462C>T (p.Pro28154=)
|
rs1703705150
|
|
|
NM_001267550.2(TTN):c.84564C>G (p.Gly28188=)
|
|
|
|
NM_001267550.2(TTN):c.84585A>G (p.Glu28195=)
|
rs2154159798
|
|
|
NM_001267550.2(TTN):c.84621C>A (p.Ile28207=)
|
|
|
|
NM_001267550.2(TTN):c.84681T>C (p.Tyr28227=)
|
rs373268234
|
|
|
NM_001267550.2(TTN):c.84684T>C (p.Arg28228=)
|
|
|
|
NM_001267550.2(TTN):c.84690T>C (p.Tyr28230=)
|
|
|
|
NM_001267550.2(TTN):c.84717A>G (p.Lys28239=)
|
|
|
|
NM_001267550.2(TTN):c.84756T>C (p.Pro28252=)
|
|
|
|
NM_001267550.2(TTN):c.8478A>G (p.Lys2826=)
|
|
|
|
NM_001267550.2(TTN):c.84795A>G (p.Thr28265=)
|
rs556179122
|
|
|
NM_001267550.2(TTN):c.84801A>G (p.Lys28267=)
|
|
|
|
NM_001267550.2(TTN):c.84813T>C (p.Leu28271=)
|
|
|
|
NM_001267550.2(TTN):c.84846T>C (p.Ala28282=)
|
|
|
|
NM_001267550.2(TTN):c.84885A>G (p.Pro28295=)
|
rs2154159457
|
|
|
NM_001267550.2(TTN):c.84888T>C (p.Asp28296=)
|
rs1703558085
|
|
|
NM_001267550.2(TTN):c.84918T>C (p.Asn28306=)
|
|
|
|
NM_001267550.2(TTN):c.84993T>C (p.Asn28331=)
|
|
|
|
NM_001267550.2(TTN):c.849A>G (p.Pro283=)
|
rs2154358483
|
|
|
NM_001267550.2(TTN):c.85011T>C (p.Ser28337=)
|
rs943889457
|
|
|
NM_001267550.2(TTN):c.85059G>A (p.Glu28353=)
|
|
|
|
NM_001267550.2(TTN):c.85065A>C (p.Pro28355=)
|
|
|
|
NM_001267550.2(TTN):c.85143T>C (p.Ile28381=)
|
|
|
|
NM_001267550.2(TTN):c.85149G>A (p.Gly28383=)
|
rs2154159219
|
|
|
NM_001267550.2(TTN):c.85176C>T (p.Ala28392=)
|
rs542010331
|
|
|
NM_001267550.2(TTN):c.85194T>C (p.Ile28398=)
|
|
|
|
NM_001267550.2(TTN):c.85203A>G (p.Arg28401=)
|
|
|
|
NM_001267550.2(TTN):c.8526G>C (p.Leu2842=)
|
rs990598694
|
|
|
NM_001267550.2(TTN):c.85293A>G (p.Thr28431=)
|
rs2154159100
|
|
|
NM_001267550.2(TTN):c.8529C>G (p.Val2843=)
|
|
|
|
NM_001267550.2(TTN):c.852G>A (p.Ser284=)
|
rs768340304
|
|
|
NM_001267550.2(TTN):c.8532A>C (p.Ser2844=)
|
|
|
|
NM_001267550.2(TTN):c.85356T>A (p.Gly28452=)
|
rs2154159047
|
|
|
NM_001267550.2(TTN):c.85356T>G (p.Gly28452=)
|
|
|
|
NM_001267550.2(TTN):c.85446T>C (p.Asp28482=)
|
rs1060503971
|
|
|
NM_001267550.2(TTN):c.85449C>A (p.Ile28483=)
|
rs758811159
|
|
|
NM_001267550.2(TTN):c.85449C>T (p.Ile28483=)
|
rs758811159
|
|
|
NM_001267550.2(TTN):c.85458C>T (p.Tyr28486=)
|
rs978230375
|
|
|
NM_001267550.2(TTN):c.85464A>T (p.Val28488=)
|
|
|
|
NM_001267550.2(TTN):c.85491A>C (p.Ala28497=)
|
|
|
|
NM_001267550.2(TTN):c.85512G>A (p.Glu28504=)
|
rs540398259
|
|
|
NM_001267550.2(TTN):c.85560A>G (p.Glu28520=)
|
rs1176836829
|
|
|
NM_001267550.2(TTN):c.85563T>C (p.Tyr28521=)
|
rs1575613740
|
|
|
NM_001267550.2(TTN):c.85581T>G (p.Gly28527=)
|
rs1575613557
|
|
|
NM_001267550.2(TTN):c.85587T>C (p.Asn28529=)
|
|
|
|
NM_001267550.2(TTN):c.85599T>C (p.Val28533=)
|
rs1553562779
|
|
|
NM_001267550.2(TTN):c.85611A>C (p.Leu28537=)
|
|
|
|
NM_001267550.2(TTN):c.85623T>C (p.Ala28541=)
|
rs2154158801
|
|
|
NM_001267550.2(TTN):c.8562G>A (p.Gln2854=)
|
rs375056408
|
|
|
NM_001267550.2(TTN):c.85638T>C (p.Asp28546=)
|
rs1307700932
|
|
|
NM_001267550.2(TTN):c.8565C>T (p.Asn2855=)
|
rs878854338
|
|
|
NM_001267550.2(TTN):c.85665G>C (p.Thr28555=)
|
rs376611533
|
|
|
NM_001267550.2(TTN):c.85686G>C (p.Val28562=)
|
rs2154158722
|
|
|
NM_001267550.2(TTN):c.85698T>C (p.Ser28566=)
|
rs1703202093
|
|
|
NM_001267550.2(TTN):c.85722C>G (p.Pro28574=)
|
|
|
|
NM_001267550.2(TTN):c.85722C>T (p.Pro28574=)
|
rs763685410
|
|
|
NM_001267550.2(TTN):c.85749T>C (p.Ser28583=)
|
|
|
|
NM_001267550.2(TTN):c.8574C>T (p.Pro2858=)
|
|
|
|
NM_001267550.2(TTN):c.85752A>G (p.Gly28584=)
|
|
|
|
NM_001267550.2(TTN):c.85770A>G (p.Arg28590=)
|
rs576796293
|
|
|
NM_001267550.2(TTN):c.85773G>A (p.Glu28591=)
|
rs2154158623
|
|
|
NM_001267550.2(TTN):c.8577A>G (p.Ser2859=)
|
|
|
|
NM_001267550.2(TTN):c.85782C>T (p.Ser28594=)
|
rs2154158608
|
|
|
NM_001267550.2(TTN):c.85794G>A (p.Val28598=)
|
rs2154158606
|
|
|
NM_001267550.2(TTN):c.85800A>G (p.Val28600=)
|
rs1703170018
|
|
|
NM_001267550.2(TTN):c.85803C>T (p.Asn28601=)
|
rs2154158592
|
|
|
NM_001267550.2(TTN):c.85809A>G (p.Lys28603=)
|
|
|
|
NM_001267550.2(TTN):c.85824A>C (p.Leu28608=)
|
rs777465713
|
|
|
NM_001267550.2(TTN):c.85846C>A (p.Arg28616=)
|
rs754025981
|
|
|
NM_001267550.2(TTN):c.85863T>C (p.Tyr28621=)
|
rs113527853
|
|
|
NM_001267550.2(TTN):c.85871G>A (p.Arg28624His)
|
rs538641703
|
|
|
NM_001267550.2(TTN):c.85893T>C (p.Ala28631=)
|
|
|
|
NM_001267550.2(TTN):c.85896C>T (p.Gly28632=)
|
rs2154158516
|
|
|
NM_001267550.2(TTN):c.85956A>G (p.Pro28652=)
|
rs1397760863
|
|
|
NM_001267550.2(TTN):c.8595A>C (p.Thr2865=)
|
|
|
|
NM_001267550.2(TTN):c.8598T>A (p.Ala2866=)
|
|
|
|
NM_001267550.2(TTN):c.86010T>C (p.Ile28670=)
|
rs2154158429
|
|
|
NM_001267550.2(TTN):c.8601G>T (p.Val2867=)
|
rs750186553
|
|
|
NM_001267550.2(TTN):c.86025G>C (p.Pro28675=)
|
|
|
|
NM_001267550.2(TTN):c.86049A>T (p.Ile28683=)
|
rs2154158386
|
|
|
NM_001267550.2(TTN):c.8604C>A (p.Val2868=)
|
rs753733308
|
|
|
NM_001267550.2(TTN):c.8604C>G (p.Val2868=)
|
rs753733308
|
|
|
NM_001267550.2(TTN):c.86061T>G (p.Thr28687=)
|
rs1060503933
|
|
|
NM_001267550.2(TTN):c.86064A>G (p.Val28688=)
|
rs2154158371
|
|
|
NM_001267550.2(TTN):c.86076A>G (p.Lys28692=)
|
|
|
|
NM_001267550.2(TTN):c.86088T>C (p.Thr28696=)
|
rs2154158354
|
|
|
NM_001267550.2(TTN):c.86115A>G (p.Leu28705=)
|
rs1553561760
|
|
|
NM_001267550.2(TTN):c.86130T>C (p.Tyr28710=)
|
rs2154158337
|
|
|
NM_001267550.2(TTN):c.86142A>G (p.Gly28714=)
|
|
|
|
NM_001267550.2(TTN):c.86160A>G (p.Glu28720=)
|
|
|
|
NM_001267550.2(TTN):c.86208C>T (p.Pro28736=)
|
rs2154158273
|
|
|
NM_001267550.2(TTN):c.86214T>C (p.Asp28738=)
|
|
|
|
NM_001267550.2(TTN):c.86235A>G (p.Ala28745=)
|
rs2154158247
|
|
|
NM_001267550.2(TTN):c.86235A>T (p.Ala28745=)
|
|
|
|
NM_001267550.2(TTN):c.86295T>C (p.Ile28765=)
|
|
|
|
NM_001267550.2(TTN):c.86313A>G (p.Ser28771=)
|
|
|
|
NM_001267550.2(TTN):c.86349A>G (p.Val28783=)
|
|
|
|
NM_001267550.2(TTN):c.86361G>A (p.Leu28787=)
|
rs2154158142
|
|
|
NM_001267550.2(TTN):c.86391T>G (p.Thr28797=)
|
rs1702927671
|
|
|
NM_001267550.2(TTN):c.86397T>G (p.Ala28799=)
|
|
|
|
NM_001267550.2(TTN):c.86400T>C (p.Tyr28800=)
|
rs558696435
|
|
|
NM_001267550.2(TTN):c.8641+17C>T
|
|
|
|
NM_001267550.2(TTN):c.8641+18C>G
|
|
|
|
NM_001267550.2(TTN):c.8641+7A>T
|
rs2091246770
|
|
|
NM_001267550.2(TTN):c.86418T>C (p.Ser28806=)
|
|
|
|
NM_001267550.2(TTN):c.86424A>G (p.Thr28808=)
|
|
|
|
NM_001267550.2(TTN):c.86433C>T (p.Thr28811=)
|
|
|
|
NM_001267550.2(TTN):c.86445C>G (p.Ala28815=)
|
rs1459326742
|
|
|
NM_001267550.2(TTN):c.86448C>T (p.Asn28816=)
|
rs774349799
|
|
|
NM_001267550.2(TTN):c.86460T>C (p.Ser28820=)
|
|
|
|
NM_001267550.2(TTN):c.8646A>G (p.Leu2882=)
|
|
|
|
NM_001267550.2(TTN):c.86472A>G (p.Thr28824=)
|
|
|
|
NM_001267550.2(TTN):c.86475A>G (p.Leu28825=)
|
|
|
|
NM_001267550.2(TTN):c.86505A>G (p.Ser28835=)
|
|
|
|
NM_001267550.2(TTN):c.86527T>C (p.Leu28843=)
|
|
|
|
NM_001267550.2(TTN):c.86532T>C (p.Asp28844=)
|
|
|
|
NM_001267550.2(TTN):c.86538A>C (p.Pro28846=)
|
rs747423090
|
|
|
NM_001267550.2(TTN):c.86541T>A (p.Gly28847=)
|
|
|
|
NM_001267550.2(TTN):c.86559T>C (p.Thr28853=)
|
|
|
|
NM_001267550.2(TTN):c.86574C>T (p.Thr28858=)
|
|
|
|
NM_001267550.2(TTN):c.86583T>G (p.Ser28861=)
|
|
|
|
NM_001267550.2(TTN):c.86592A>G (p.Leu28864=)
|
|
|
|
NM_001267550.2(TTN):c.86595C>T (p.Ser28865=)
|
rs1702832123
|
|
|
NM_001267550.2(TTN):c.86631G>A (p.Val28877=)
|
|
|
|
NM_001267550.2(TTN):c.86634G>A (p.Lys28878=)
|
|
|
|
NM_001267550.2(TTN):c.86640C>T (p.Tyr28880=)
|
|
|
|
NM_001267550.2(TTN):c.86643C>T (p.His28881=)
|
rs1553560212
|
|
|
NM_001267550.2(TTN):c.86655T>C (p.Arg28885=)
|
rs1169096487
|
|
|
NM_001267550.2(TTN):c.86679C>T (p.Val28893=)
|
|
|
|
NM_001267550.2(TTN):c.86712C>T (p.Tyr28904=)
|
|
|
|
NM_001267550.2(TTN):c.86730A>G (p.Gln28910=)
|
|
|
|
NM_001267550.2(TTN):c.8673C>T (p.Ile2891=)
|
|
|
|
NM_001267550.2(TTN):c.86745T>C (p.Tyr28915=)
|
|
|
|
NM_001267550.2(TTN):c.86760T>C (p.Ser28920=)
|
rs1553559920
|
|
|
NM_001267550.2(TTN):c.86763A>G (p.Gly28921=)
|
|
|
|
NM_001267550.2(TTN):c.86799A>G (p.Thr28933=)
|
|
|
|
NM_001267550.2(TTN):c.86811A>C (p.Val28937=)
|
rs55972010
|
|
|
NM_001267550.2(TTN):c.86821+12G>T
|
rs2154157712
|
|
|
NM_001267550.2(TTN):c.86821+20A>C
|
rs2154157704
|
|
|
NM_001267550.2(TTN):c.86821+8T>C
|
|
|
|
NM_001267550.2(TTN):c.86822-14C>T
|
|
|
|
NM_001267550.2(TTN):c.86822-14_86822-11dup
|
|
|
|
NM_001267550.2(TTN):c.86822-7T>G
|
rs2154156798
|
|
|
NM_001267550.2(TTN):c.86822-8T>C
|
|
|
|
NM_001267550.2(TTN):c.86822-8T>G
|
|
|
|
NM_001267550.2(TTN):c.8682T>C (p.Pro2894=)
|
|
|
|
NM_001267550.2(TTN):c.86880C>G (p.Ser28960=)
|
rs2154156731
|
|
|
NM_001267550.2(TTN):c.86892G>A (p.Leu28964=)
|
rs2154156709
|
|
|
NM_001267550.2(TTN):c.86919A>G (p.Arg28973=)
|
|
|
|
NM_001267550.2(TTN):c.86931T>C (p.Tyr28977=)
|
|
|
|
NM_001267550.2(TTN):c.86944C>T (p.Leu28982=)
|
|
|
|
NM_001267550.2(TTN):c.86964C>T (p.Asn28988=)
|
|
|
|
NM_001267550.2(TTN):c.86976T>C (p.Cys28992=)
|
rs2154156622
|
|
|
NM_001267550.2(TTN):c.8697C>G (p.Ala2899=)
|
|
|
|
NM_001267550.2(TTN):c.86997T>C (p.His28999=)
|
|
|
|
NM_001267550.2(TTN):c.87003T>C (p.Val29001=)
|
rs371894087
|
|
|
NM_001267550.2(TTN):c.87009C>T (p.Ser29003=)
|
|
|
|
NM_001267550.2(TTN):c.87018A>G (p.Arg29006=)
|
|
|
|
NM_001267550.2(TTN):c.87048T>C (p.Phe29016=)
|
|
|
|
NM_001267550.2(TTN):c.87051T>C (p.Ala29017=)
|
rs2154156544
|
|
|
NM_001267550.2(TTN):c.87063T>C (p.Ala29021=)
|
|
|
|
NM_001267550.2(TTN):c.87069G>A (p.Leu29023=)
|
|
|
|
NM_001267550.2(TTN):c.87078G>C (p.Pro29026=)
|
rs772691207
|
|
|
NM_001267550.2(TTN):c.87118+15G>A
|
|
|
|
NM_001267550.2(TTN):c.87118+17G>A
|
|
|
|
NM_001267550.2(TTN):c.87118+19A>G
|
|
|
|
NM_001267550.2(TTN):c.87118+9A>G
|
rs535870147
|
|
|
NM_001267550.2(TTN):c.87119-15A>G
|
|
|
|
NM_001267550.2(TTN):c.87150A>C (p.Pro29050=)
|
|
|
|
NM_001267550.2(TTN):c.87159T>C (p.Thr29053=)
|
|
|
|
NM_001267550.2(TTN):c.8715G>A (p.Val2905=)
|
|
|
|
NM_001267550.2(TTN):c.87165T>C (p.Tyr29055=)
|
|
|
|
NM_001267550.2(TTN):c.87222C>T (p.Pro29074=)
|
|
|
|
NM_001267550.2(TTN):c.8727T>C (p.Asn2909=)
|
rs2091209780
|
|
|
NM_001267550.2(TTN):c.87285T>C (p.Ile29095=)
|
rs2154156132
|
|
|
NM_001267550.2(TTN):c.87300G>A (p.Leu29100=)
|
|
|
|
NM_001267550.2(TTN):c.87318A>G (p.Glu29106=)
|
|
|
|
NM_001267550.2(TTN):c.87336T>C (p.Ala29112=)
|
rs1553555529
|
|
|
NM_001267550.2(TTN):c.87387C>T (p.Phe29129=)
|
rs1335641292
|
|
|
NM_001267550.2(TTN):c.87390T>A (p.Ile29130=)
|
rs876657616
|
|
|
NM_001267550.2(TTN):c.87414T>A (p.Pro29138=)
|
rs1182592618
|
|
|
NM_001267550.2(TTN):c.87414T>C (p.Pro29138=)
|
|
|
|
NM_001267550.2(TTN):c.87429C>T (p.Gly29143=)
|
rs1702137024
|
|
|
NM_001267550.2(TTN):c.87480G>A (p.Glu29160=)
|
rs1702118701
|
|
|
NM_001267550.2(TTN):c.87516C>T (p.Asn29172=)
|
|
|
|
NM_001267550.2(TTN):c.87519C>T (p.Tyr29173=)
|
rs2154155954
|
|
|
NM_001267550.2(TTN):c.87549A>T (p.Ala29183=)
|
|
|
|
NM_001267550.2(TTN):c.8754T>G (p.Gly2918=)
|
rs774883468
|
|
|
NM_001267550.2(TTN):c.87564G>T (p.Val29188=)
|
|
|
|
NM_001267550.2(TTN):c.87576T>G (p.Val29192=)
|
|
|
|
NM_001267550.2(TTN):c.87609C>T (p.Thr29203=)
|
|
|
|
NM_001267550.2(TTN):c.87618A>G (p.Glu29206=)
|
|
|
|
NM_001267550.2(TTN):c.87624C>T (p.Tyr29208=)
|
|
|
|
NM_001267550.2(TTN):c.87627A>G (p.Gln29209=)
|
|
|
|
NM_001267550.2(TTN):c.87639G>A (p.Lys29213=)
|
rs1001957031
|
|
|
NM_001267550.2(TTN):c.87666T>C (p.Asp29222=)
|
|
|
|
NM_001267550.2(TTN):c.87678A>T (p.Ser29226=)
|
rs1702056267
|
|
|
NM_001267550.2(TTN):c.87702A>G (p.Pro29234=)
|
rs1553554080
|
|
|
NM_001267550.2(TTN):c.87706+11C>G
|
|
|
|
NM_001267550.2(TTN):c.87706+17T>C
|
|
|
|
NM_001267550.2(TTN):c.87706+18T>C
|
|
|
|
NM_001267550.2(TTN):c.87707-14del
|
|
|
|
NM_001267550.2(TTN):c.87707-15T>C
|
|
|
|
NM_001267550.2(TTN):c.87707-19G>C
|
|
|
|
NM_001267550.2(TTN):c.87744T>C (p.Asn29248=)
|
|
|
|
NM_001267550.2(TTN):c.87753A>C (p.Arg29251=)
|
|
|
|
NM_001267550.2(TTN):c.87783A>C (p.Pro29261=)
|
|
|
|
NM_001267550.2(TTN):c.87789A>C (p.Ser29263=)
|
rs2154155643
|
|
|
NM_001267550.2(TTN):c.87795A>T (p.Gly29265=)
|
rs1383573621
|
|
|
NM_001267550.2(TTN):c.87813C>T (p.Gly29271=)
|
rs751701021
|
|
|
NM_001267550.2(TTN):c.87819C>T (p.His29273=)
|
rs2154155624
|
|
|
NM_001267550.2(TTN):c.87834C>T (p.Asp29278=)
|
rs2154155620
|
|
|
NM_001267550.2(TTN):c.8784G>A (p.Lys2928=)
|
|
|
|
NM_001267550.2(TTN):c.87885T>G (p.Thr29295=)
|
|
|
|
NM_001267550.2(TTN):c.87903A>G (p.Thr29301=)
|
|
|
|
NM_001267550.2(TTN):c.87927A>G (p.Glu29309=)
|
rs2154155557
|
|
|
NM_001267550.2(TTN):c.87933G>A (p.Arg29311=)
|
rs1325675000
|
|
|
NM_001267550.2(TTN):c.8793G>T (p.Val2931=)
|
rs2091196852
|
|
|
NM_001267550.2(TTN):c.87969T>C (p.Pro29323=)
|
|
|
|
NM_001267550.2(TTN):c.87975T>C (p.His29325=)
|
|
|
|
NM_001267550.2(TTN):c.87978T>C (p.Pro29326=)
|
rs1575580608
|
|
|
NM_001267550.2(TTN):c.87993G>A (p.Leu29331=)
|
rs2154155505
|
|
|
NM_001267550.2(TTN):c.88005T>C (p.Ala29335=)
|
rs759288771
|
|
|
NM_001267550.2(TTN):c.88009+13C>T
|
rs397517739
|
|
|
NM_001267550.2(TTN):c.88009+14A>G
|
|
|
|
NM_001267550.2(TTN):c.88009+15T>C
|
|
|
|
NM_001267550.2(TTN):c.88009+20A>G
|
|
|
|
NM_001267550.2(TTN):c.88010-15_88010-11del
|
rs1701807349
|
|
|
NM_001267550.2(TTN):c.88010-16T>G
|
|
|
|
NM_001267550.2(TTN):c.88010-17T>C
|
|
|
|
NM_001267550.2(TTN):c.88014C>T (p.Pro29338=)
|
|
|
|
NM_001267550.2(TTN):c.88038T>C (p.Asp29346=)
|
|
|
|
NM_001267550.2(TTN):c.88050C>T (p.Asn29350=)
|
|
|
|
NM_001267550.2(TTN):c.88083C>T (p.Phe29361=)
|
rs746746013
|
|
|
NM_001267550.2(TTN):c.88098G>A (p.Lys29366=)
|
rs2154155276
|
|
|
NM_001267550.2(TTN):c.8811G>A (p.Gln2937=)
|
|
|
|
NM_001267550.2(TTN):c.88149C>G (p.Thr29383=)
|
|
|
|
NM_001267550.2(TTN):c.88155C>T (p.Ala29385=)
|
|
|
|
NM_001267550.2(TTN):c.88173T>C (p.Thr29391=)
|
|
|
|
NM_001267550.2(TTN):c.8817C>T (p.Ile2939=)
|
|
|
|
NM_001267550.2(TTN):c.88191C>T (p.Ile29397=)
|
|
|
|
NM_001267550.2(TTN):c.88197C>A (p.Gly29399=)
|
rs886498056
|
|
|
NM_001267550.2(TTN):c.88198T>C (p.Leu29400=)
|
rs2154155200
|
|
|
NM_001267550.2(TTN):c.8820C>T (p.Ile2940=)
|
|
|
|
NM_001267550.2(TTN):c.88224C>T (p.Phe29408=)
|
rs1701738144
|
|
|
NM_001267550.2(TTN):c.88227T>C (p.Arg29409=)
|
|
|
|
NM_001267550.2(TTN):c.88236T>G (p.Ala29412=)
|
rs781427598
|
|
|
NM_001267550.2(TTN):c.88239G>A (p.Arg29413=)
|
|
|
|
NM_001267550.2(TTN):c.88245T>G (p.Ala29415=)
|
rs2154155179
|
|
|
NM_001267550.2(TTN):c.88248T>C (p.Val29416=)
|
rs794727458
|
|
|
NM_001267550.2(TTN):c.88254C>T (p.Ser29418=)
|
|
|
|
NM_001267550.2(TTN):c.88299T>C (p.Asp29433=)
|
rs2154155146
|
|
|
NM_001267550.2(TTN):c.88307-13G>A
|
|
|
|
NM_001267550.2(TTN):c.88307-16T>C
|
|
|
|
NM_001267550.2(TTN):c.88307-17A>C
|
|
|
|
NM_001267550.2(TTN):c.88307-18C>T
|
rs547409426
|
|
|
NM_001267550.2(TTN):c.88307-8T>C
|
|
|
|
NM_001267550.2(TTN):c.88311T>C (p.Gly29437=)
|
rs878854429
|
|
|
NM_001267550.2(TTN):c.88323T>C (p.Asp29441=)
|
|
|
|
NM_001267550.2(TTN):c.88329T>A (p.Pro29443=)
|
rs1287677844
|
|
|
NM_001267550.2(TTN):c.8832C>T (p.Ser2944=)
|
rs773424866
|
|
|
NM_001267550.2(TTN):c.88338T>C (p.Tyr29446=)
|
|
|
|
NM_001267550.2(TTN):c.88350C>G (p.Val29450=)
|
rs568111586
|
|
|
NM_001267550.2(TTN):c.88410T>A (p.Pro29470=)
|
rs1575552995
|
|
|
NM_001267550.2(TTN):c.88413T>C (p.Thr29471=)
|
rs748945007
|
|
|
NM_001267550.2(TTN):c.8841C>T (p.Asp2947=)
|
|
|
|
NM_001267550.2(TTN):c.8844G>T (p.Ser2948=)
|
rs531976829
|
|
|
NM_001267550.2(TTN):c.88473T>C (p.Asn29491=)
|
rs2154153410
|
|
|
NM_001267550.2(TTN):c.88482C>T (p.Asp29494=)
|
|
|
|
NM_001267550.2(TTN):c.88488A>G (p.Ala29496=)
|
|
|
|
NM_001267550.2(TTN):c.88512T>C (p.Asp29504=)
|
rs1575551717
|
|
|
NM_001267550.2(TTN):c.8853C>T (p.Tyr2951=)
|
rs1574558551
|
|
|
NM_001267550.2(TTN):c.88545A>G (p.Leu29515=)
|
rs1553547309
|
|
|
NM_001267550.2(TTN):c.88569A>G (p.Ser29523=)
|
rs2154153349
|
|
|
NM_001267550.2(TTN):c.8856A>G (p.Thr2952=)
|
|
|
|
NM_001267550.2(TTN):c.8856A>T (p.Thr2952=)
|
rs2091184930
|
|
|
NM_001267550.2(TTN):c.88590C>T (p.Ile29530=)
|
|
|
|
NM_001267550.2(TTN):c.88594+16A>T
|
|
|
|
NM_001267550.2(TTN):c.88594+17G>A
|
|
|
|
NM_001267550.2(TTN):c.88594+19C>T
|
|
|
|
NM_001267550.2(TTN):c.88594+20C>T
|
|
|
|
NM_001267550.2(TTN):c.88595-15T>G
|
|
|
|
NM_001267550.2(TTN):c.88595-6T>C
|
rs1553546842
|
|
|
NM_001267550.2(TTN):c.88595-8A>G
|
rs775537214
|
|
|
NM_001267550.2(TTN):c.88599A>G (p.Lys29533=)
|
|
|
|
NM_001267550.2(TTN):c.885C>T (p.His295=)
|
|
|
|
NM_001267550.2(TTN):c.88602A>C (p.Pro29534=)
|
|
|
|
NM_001267550.2(TTN):c.88611T>C (p.Pro29537=)
|
rs555380931
|
|
|
NM_001267550.2(TTN):c.8862C>T (p.Val2954=)
|
|
|
|
NM_001267550.2(TTN):c.88635T>C (p.Thr29545=)
|
rs2154153170
|
|
|
NM_001267550.2(TTN):c.88662C>A (p.Leu29554=)
|
|
|
|
NM_001267550.2(TTN):c.88683T>C (p.Asp29561=)
|
rs879237120
|
|
|
NM_001267550.2(TTN):c.88713G>A (p.Val29571=)
|
|
|
|
NM_001267550.2(TTN):c.88722T>G (p.Arg29574=)
|
rs775188663
|
|
|
NM_001267550.2(TTN):c.88734C>G (p.Arg29578=)
|
rs749107962
|
|
|
NM_001267550.2(TTN):c.88740G>T (p.Val29580=)
|
rs767611128
|
|
|
NM_001267550.2(TTN):c.88770G>A (p.Glu29590=)
|
|
|
|
NM_001267550.2(TTN):c.88773C>T (p.Cys29591=)
|
|
|
|
NM_001267550.2(TTN):c.88782A>G (p.Thr29594=)
|
rs1553545831
|
|
|
NM_001267550.2(TTN):c.8880C>G (p.Val2960=)
|
rs748052681
|
|
|
NM_001267550.2(TTN):c.88812C>T (p.Tyr29604=)
|
|
|
|
NM_001267550.2(TTN):c.88815C>A (p.Ile29605=)
|
rs2154153004
|
|
|
NM_001267550.2(TTN):c.88821G>A (p.Arg29607=)
|
rs751654793
|
|
|
NM_001267550.2(TTN):c.88854G>A (p.Glu29618=)
|
rs2154152956
|
|
|
NM_001267550.2(TTN):c.88894+20G>A
|
rs2154152899
|
|
|
NM_001267550.2(TTN):c.88894+9T>A
|
rs148034735
|
|
|
NM_001267550.2(TTN):c.88894+9T>C
|
|
|
|
NM_001267550.2(TTN):c.88895-12C>T
|
|
|
|
NM_001267550.2(TTN):c.88895-13C>T
|
rs2154152666
|
|
|
NM_001267550.2(TTN):c.88895-17C>T
|
|
|
|
NM_001267550.2(TTN):c.888G>A (p.Val296=)
|
rs2093944893
|
|
|
NM_001267550.2(TTN):c.8890C>T (p.Leu2964=)
|
rs2154342466
|
|
|
NM_001267550.2(TTN):c.88929A>G (p.Thr29643=)
|
|
|
|
NM_001267550.2(TTN):c.88938C>T (p.Thr29646=)
|
|
|
|
NM_001267550.2(TTN):c.88947G>T (p.Ser29649=)
|
|
|
|
NM_001267550.2(TTN):c.88953T>C (p.Thr29651=)
|
|
|
|
NM_001267550.2(TTN):c.8902+12_8902+13del
|
rs774238749
|
|
|
NM_001267550.2(TTN):c.8902+12_8902+13insG
|
|
|
|
NM_001267550.2(TTN):c.8902+19A>G
|
|
|
|
NM_001267550.2(TTN):c.89028G>A (p.Lys29676=)
|
|
|
|
NM_001267550.2(TTN):c.8903-11C>T
|
rs1319818470
|
|
|
NM_001267550.2(TTN):c.89052A>T (p.Leu29684=)
|
rs1389119897
|
|
|
NM_001267550.2(TTN):c.89076A>G (p.Arg29692=)
|
|
|
|
NM_001267550.2(TTN):c.8907C>T (p.Ile2969=)
|
rs2154342022
|
|
|
NM_001267550.2(TTN):c.89130T>A (p.Ala29710=)
|
|
|
|
NM_001267550.2(TTN):c.89154A>T (p.Pro29718=)
|
|
|
|
NM_001267550.2(TTN):c.89166A>G (p.Pro29722=)
|
|
|
|
NM_001267550.2(TTN):c.89187T>C (p.Ala29729=)
|
rs1401647603
|
|
|
NM_001267550.2(TTN):c.89190T>C (p.Asp29730=)
|
rs2154152422
|
|
|
NM_001267550.2(TTN):c.89198-10G>A
|
rs2154152302
|
|
|
NM_001267550.2(TTN):c.89198-13dup
|
|
|
|
NM_001267550.2(TTN):c.89198-19T>C
|
|
|
|
NM_001267550.2(TTN):c.89198-22_89198-18del
|
rs764521837
|
|
|
NM_001267550.2(TTN):c.89205A>C (p.Pro29735=)
|
|
|
|
NM_001267550.2(TTN):c.89205A>T (p.Pro29735=)
|
rs1575535200
|
|
|
NM_001267550.2(TTN):c.89217T>C (p.Ala29739=)
|
rs2154152285
|
|
|
NM_001267550.2(TTN):c.89229C>A (p.Ile29743=)
|
rs376853821
|
|
|
NM_001267550.2(TTN):c.89232A>T (p.Ala29744=)
|
|
|
|
NM_001267550.2(TTN):c.89240C>G (p.Thr29747Ser)
|
rs370568740
|
|
|
NM_001267550.2(TTN):c.89241C>A (p.Thr29747=)
|
|
|
|
NM_001267550.2(TTN):c.89241C>G (p.Thr29747=)
|
|
|
|
NM_001267550.2(TTN):c.89247A>G (p.Ser29749=)
|
rs2154152253
|
|
|
NM_001267550.2(TTN):c.89250C>T (p.Ser29750=)
|
rs1559221602
|
|
|
NM_001267550.2(TTN):c.89283T>C (p.Asp29761=)
|
|
|
|
NM_001267550.2(TTN):c.89298T>C (p.Val29766=)
|
rs2154152202
|
|
|
NM_001267550.2(TTN):c.89304G>T (p.Gly29768=)
|
rs2154152198
|
|
|
NM_001267550.2(TTN):c.89310T>C (p.Val29770=)
|
|
|
|
NM_001267550.2(TTN):c.89316G>A (p.Glu29772=)
|
rs2154152182
|
|
|
NM_001267550.2(TTN):c.8931C>T (p.Asp2977=)
|
|
|
|
NM_001267550.2(TTN):c.8934C>T (p.Ile2978=)
|
|
|
|
NM_001267550.2(TTN):c.89364A>G (p.Gly29788=)
|
rs2154152145
|
|
|
NM_001267550.2(TTN):c.89370C>T (p.Val29790=)
|
|
|
|
NM_001267550.2(TTN):c.89388G>A (p.Val29796=)
|
|
|
|
NM_001267550.2(TTN):c.89400G>A (p.Leu29800=)
|
rs2154152127
|
|
|
NM_001267550.2(TTN):c.89409A>G (p.Gly29803=)
|
rs1700208985
|
|
|
NM_001267550.2(TTN):c.89439A>C (p.Val29813=)
|
|
|
|
NM_001267550.2(TTN):c.89448T>A (p.Ala29816=)
|
|
|
|
NM_001267550.2(TTN):c.89457A>G (p.Gly29819=)
|
rs1553542686
|
|
|
NM_001267550.2(TTN):c.89463T>C (p.Pro29821=)
|
rs1215146152
|
|
|
NM_001267550.2(TTN):c.89484A>T (p.Val29828=)
|
|
|
|
NM_001267550.2(TTN):c.89503+10T>C
|
|
|
|
NM_001267550.2(TTN):c.89503+12C>A
|
rs72648239
|
|
|
NM_001267550.2(TTN):c.89503+17T>G
|
|
|
|
NM_001267550.2(TTN):c.89503+7A>T
|
rs746577107
|
|
|
NM_001267550.2(TTN):c.89504-20T>C
|
|
|
|
NM_001267550.2(TTN):c.89504-6C>T
|
|
|
|
NM_001267550.2(TTN):c.89526T>C (p.Asp29842=)
|
|
|
|
NM_001267550.2(TTN):c.8952C>T (p.Asp2984=)
|
rs2090998032
|
|
|
NM_001267550.2(TTN):c.8955T>G (p.Thr2985=)
|
rs774980824
|
|
|
NM_001267550.2(TTN):c.89589T>C (p.Phe29863=)
|
|
|
|
NM_001267550.2(TTN):c.89610T>C (p.Thr29870=)
|
rs2154151869
|
|
|
NM_001267550.2(TTN):c.89685A>T (p.Ser29895=)
|
|
|
|
NM_001267550.2(TTN):c.89712C>G (p.Arg29904=)
|
rs1461570315
|
|
|
NM_001267550.2(TTN):c.89721A>C (p.Thr29907=)
|
rs773008865
|
|
|
NM_001267550.2(TTN):c.89730T>C (p.Tyr29910=)
|
rs2154151804
|
|
|
NM_001267550.2(TTN):c.89739A>T (p.Thr29913=)
|
rs1338237149
|
|
|
NM_001267550.2(TTN):c.8973A>G (p.Thr2991=)
|
rs377447652
|
|
|
NM_001267550.2(TTN):c.89757T>C (p.Gly29919=)
|
|
|
|
NM_001267550.2(TTN):c.89790G>T (p.Val29930=)
|
|
|
|
NM_001267550.2(TTN):c.89793T>G (p.Leu29931=)
|
rs1700038225
|
|
|
NM_001267550.2(TTN):c.897G>A (p.Pro299=)
|
|
|
|
NM_001267550.2(TTN):c.897G>C (p.Pro299=)
|
|
|
|
NM_001267550.2(TTN):c.8982T>C (p.Tyr2994=)
|
|
|
|
NM_001267550.2(TTN):c.89838T>C (p.Ser29946=)
|
|
|
|
NM_001267550.2(TTN):c.89841A>G (p.Arg29947=)
|
|
|
|
NM_001267550.2(TTN):c.89844C>T (p.Gly29948=)
|
rs1700022340
|
|
|
NM_001267550.2(TTN):c.8985A>G (p.Glu2995=)
|
rs1574542823
|
|
|
NM_001267550.2(TTN):c.89880T>C (p.Asp29960=)
|
rs2154151704
|
|
|
NM_001267550.2(TTN):c.89892A>G (p.Pro29964=)
|
rs1057523342
|
|
|
NM_001267550.2(TTN):c.89919A>G (p.Arg29973=)
|
|
|
|
NM_001267550.2(TTN):c.89955C>T (p.His29985=)
|
rs1327715051
|
|
|
NM_001267550.2(TTN):c.89970A>G (p.Thr29990=)
|
|
|
|
NM_001267550.2(TTN):c.89976C>T (p.Phe29992=)
|
|
|
|
NM_001267550.2(TTN):c.89989T>C (p.Leu29997=)
|
rs369855092
|
|
|
NM_001267550.2(TTN):c.89994G>C (p.Ser29998=)
|
|
|
|
NM_001267550.2(TTN):c.90003T>C (p.Thr30001=)
|
|
|
|
NM_001267550.2(TTN):c.9000A>G (p.Lys3000=)
|
|
|
|
NM_001267550.2(TTN):c.90087A>G (p.Glu30029=)
|
rs1699946648
|
|
|
NM_001267550.2(TTN):c.90141C>T (p.Val30047=)
|
|
|
|
NM_001267550.2(TTN):c.90147C>A (p.Leu30049=)
|
rs2154151504
|
|
|
NM_001267550.2(TTN):c.90156C>T (p.Thr30052=)
|
rs755150088
|
|
|
NM_001267550.2(TTN):c.90168T>C (p.Phe30056=)
|
|
|
|
NM_001267550.2(TTN):c.9018G>A (p.Val3006=)
|
|
|
|
NM_001267550.2(TTN):c.90276A>G (p.Gln30092=)
|
rs2154151401
|
|
|
NM_001267550.2(TTN):c.90282G>A (p.Lys30094=)
|
|
|
|
NM_001267550.2(TTN):c.90285G>A (p.Glu30095=)
|
rs1312515165
|
|
|
NM_001267550.2(TTN):c.90297G>A (p.Leu30099=)
|
|
|
|
NM_001267550.2(TTN):c.90309G>A (p.Val30103=)
|
rs1060503968
|
|
|
NM_001267550.2(TTN):c.90309G>C (p.Val30103=)
|
rs1060503968
|
|
|
NM_001267550.2(TTN):c.9030A>C (p.Ser3010=)
|
|
|
|
NM_001267550.2(TTN):c.9030A>G (p.Ser3010=)
|
rs1263075487
|
|
|
NM_001267550.2(TTN):c.90331C>T (p.Leu30111=)
|
rs1344947849
|
|
|
NM_001267550.2(TTN):c.90384A>G (p.Thr30128=)
|
|
|
|
NM_001267550.2(TTN):c.90396C>T (p.Asp30132=)
|
rs1699833977
|
|
|
NM_001267550.2(TTN):c.90397C>T (p.Leu30133=)
|
rs2154151313
|
|
|
NM_001267550.2(TTN):c.90417A>G (p.Ala30139=)
|
|
|
|
NM_001267550.2(TTN):c.90510G>A (p.Leu30170=)
|
rs2154151255
|
|
|
NM_001267550.2(TTN):c.90561T>A (p.Ile30187=)
|
|
|
|
NM_001267550.2(TTN):c.90565T>C (p.Leu30189=)
|
|
|
|
NM_001267550.2(TTN):c.90570T>C (p.Ser30190=)
|
rs2154151209
|
|
|
NM_001267550.2(TTN):c.90573T>A (p.Ile30191=)
|
|
|
|
NM_001267550.2(TTN):c.90576G>A (p.Lys30192=)
|
|
|
|
NM_001267550.2(TTN):c.90594T>C (p.His30198=)
|
rs765307374
|
|
|
NM_001267550.2(TTN):c.90606C>T (p.Tyr30202=)
|
|
|
|
NM_001267550.2(TTN):c.90621T>C (p.Asp30207=)
|
|
|
|
NM_001267550.2(TTN):c.9063C>T (p.Leu3021=)
|
|
|
|
NM_001267550.2(TTN):c.90654A>G (p.Thr30218=)
|
|
|
|
NM_001267550.2(TTN):c.90741T>C (p.Asp30247=)
|
rs1351789713
|
|
|
NM_001267550.2(TTN):c.90744A>G (p.Val30248=)
|
|
|
|
NM_001267550.2(TTN):c.90753T>C (p.Asp30251=)
|
rs2154151040
|
|
|
NM_001267550.2(TTN):c.90756T>C (p.Asn30252=)
|
|
|
|
NM_001267550.2(TTN):c.90762A>T (p.Gly30254=)
|
rs1051740243
|
|
|
NM_001267550.2(TTN):c.90765A>G (p.Gly30255=)
|
|
|
|
NM_001267550.2(TTN):c.90771T>C (p.Ile30257=)
|
|
|
|
NM_001267550.2(TTN):c.90777T>C (p.Cys30259=)
|
|
|
|
NM_001267550.2(TTN):c.90789G>A (p.Glu30263=)
|
rs769726647
|
|
|
NM_001267550.2(TTN):c.90825G>A (p.Val30275=)
|
rs752704041
|
|
|
NM_001267550.2(TTN):c.90846G>A (p.Thr30282=)
|
|
|
|
NM_001267550.2(TTN):c.90861T>A (p.Pro30287=)
|
rs2154150983
|
|
|
NM_001267550.2(TTN):c.90870C>T (p.Val30290=)
|
rs794729527
|
|
|
NM_001267550.2(TTN):c.90879T>C (p.Ala30293=)
|
rs1400216463
|
|
|
NM_001267550.2(TTN):c.90897G>C (p.Val30299=)
|
|
|
|
NM_001267550.2(TTN):c.90933T>C (p.Leu30311=)
|
|
|
|
NM_001267550.2(TTN):c.90936C>T (p.Val30312=)
|
|
|
|
NM_001267550.2(TTN):c.9096T>C (p.Phe3032=)
|
|
|
|
NM_001267550.2(TTN):c.90978T>A (p.Gly30326=)
|
|
|
|
NM_001267550.2(TTN):c.90984A>G (p.Pro30328=)
|
|
|
|
NM_001267550.2(TTN):c.909G>C (p.Pro303=)
|
|
|
|
NM_001267550.2(TTN):c.91+12C>T
|
|
|
|
NM_001267550.2(TTN):c.91+15T>A
|
|
|
|
NM_001267550.2(TTN):c.91+9A>G
|
rs2154360980
|
|
|
NM_001267550.2(TTN):c.91008G>A (p.Val30336=)
|
|
|
|
NM_001267550.2(TTN):c.91008G>T (p.Val30336=)
|
|
|
|
NM_001267550.2(TTN):c.91011T>C (p.Thr30337=)
|
|
|
|
NM_001267550.2(TTN):c.91041T>C (p.Ala30347=)
|
|
|
|
NM_001267550.2(TTN):c.91071T>A (p.Thr30357=)
|
|
|
|
NM_001267550.2(TTN):c.91131A>G (p.Ser30377=)
|
rs761062254
|
|
|
NM_001267550.2(TTN):c.91134A>G (p.Pro30378=)
|
|
|
|
NM_001267550.2(TTN):c.91140T>C (p.Ser30380=)
|
|
|
|
NM_001267550.2(TTN):c.91143A>G (p.Gly30381=)
|
rs2154150752
|
|
|
NM_001267550.2(TTN):c.91152T>C (p.Tyr30384=)
|
rs796635140
|
|
|
NM_001267550.2(TTN):c.91182T>C (p.Asp30394=)
|
rs1699513121
|
|
|
NM_001267550.2(TTN):c.91194T>C (p.Arg30398=)
|
|
|
|
NM_001267550.2(TTN):c.91212T>G (p.Ser30404=)
|
rs2154150710
|
|
|
NM_001267550.2(TTN):c.91245A>G (p.Lys30415=)
|
|
|
|
NM_001267550.2(TTN):c.91260T>C (p.Val30420=)
|
rs1208748409
|
|
|
NM_001267550.2(TTN):c.91270+13T>G
|
|
|
|
NM_001267550.2(TTN):c.91270+15T>C
|
|
|
|
NM_001267550.2(TTN):c.91270+7G>T
|
|
|
|
NM_001267550.2(TTN):c.91270+8A>T
|
|
|
|
NM_001267550.2(TTN):c.91270+9T>C
|
|
|
|
NM_001267550.2(TTN):c.91271-12A>C
|
|
|
|
NM_001267550.2(TTN):c.91271-19C>G
|
|
|
|
NM_001267550.2(TTN):c.91271-20C>A
|
rs1461887959
|
|
|
NM_001267550.2(TTN):c.91271-6T>A
|
|
|
|
NM_001267550.2(TTN):c.91271-7T>G
|
rs2154150323
|
|
|
NM_001267550.2(TTN):c.91281C>T (p.Gly30427=)
|
|
|
|
NM_001267550.2(TTN):c.91305C>A (p.Thr30435=)
|
rs368000890
|
|
|
NM_001267550.2(TTN):c.91320A>G (p.Thr30440=)
|
|
|
|
NM_001267550.2(TTN):c.91335A>C (p.Pro30445=)
|
|
|
|
NM_001267550.2(TTN):c.91344T>A (p.Arg30448=)
|
rs1060503927
|
|
|
NM_001267550.2(TTN):c.91350A>G (p.Gly30450=)
|
rs1575504766
|
|
|
NM_001267550.2(TTN):c.91383A>G (p.Lys30461=)
|
|
|
|
NM_001267550.2(TTN):c.914+10C>T
|
|
|
|
NM_001267550.2(TTN):c.914+12A>G
|
|
|
|
NM_001267550.2(TTN):c.914+17G>A
|
rs773843381
|
|
|
NM_001267550.2(TTN):c.914+17G>C
|
|
|
|
NM_001267550.2(TTN):c.914+7C>G
|
|
|
|
NM_001267550.2(TTN):c.914+8_914+9delinsCT
|
rs1554041153
|
|
|
NM_001267550.2(TTN):c.91443C>T (p.Tyr30481=)
|
|
|
|
NM_001267550.2(TTN):c.91464T>C (p.Pro30488=)
|
|
|
|
NM_001267550.2(TTN):c.91467G>A (p.Gly30489=)
|
rs542171381
|
|
|
NM_001267550.2(TTN):c.9147C>T (p.Ala3049=)
|
rs1574540462
|
|
|
NM_001267550.2(TTN):c.915-13T>G
|
rs2154356306
|
|
|
NM_001267550.2(TTN):c.915-19T>C
|
|
|
|
NM_001267550.2(TTN):c.915-4T>C
|
rs1346839233
|
|
|
NM_001267550.2(TTN):c.915-7T>C
|
|
|
|
NM_001267550.2(TTN):c.915-7dup
|
rs730880351
|
|
|
NM_001267550.2(TTN):c.915-8G>A
|
rs1195041579
|
|
|
NM_001267550.2(TTN):c.915-8G>T
|
|
|
|
NM_001267550.2(TTN):c.9150A>C (p.Thr3050=)
|
rs72647886
|
|
|
NM_001267550.2(TTN):c.91536T>G (p.Ser30512=)
|
|
|
|
NM_001267550.2(TTN):c.91564+14A>G
|
rs2154149987
|
|
|
NM_001267550.2(TTN):c.91564+18A>T
|
|
|
|
NM_001267550.2(TTN):c.91564+18_91564+21del
|
|
|
|
NM_001267550.2(TTN):c.91564+19T>C
|
rs1699201082
|
|
|
NM_001267550.2(TTN):c.91565-9C>A
|
|
|
|
NM_001267550.2(TTN):c.91578A>G (p.Val30526=)
|
rs2154149054
|
|
|
NM_001267550.2(TTN):c.91587C>A (p.Gly30529=)
|
|
|
|
NM_001267550.2(TTN):c.91587C>T (p.Gly30529=)
|
|
|
|
NM_001267550.2(TTN):c.91596C>T (p.Tyr30532=)
|
|
|
|
NM_001267550.2(TTN):c.91602T>C (p.Asp30534=)
|
rs776217449
|
|
|
NM_001267550.2(TTN):c.9163+12T>C
|
|
|
|
NM_001267550.2(TTN):c.9163+17del
|
|
|
|
NM_001267550.2(TTN):c.9163+19T>G
|
|
|
|
NM_001267550.2(TTN):c.9163+9T>C
|
rs2090958703
|
|
|
NM_001267550.2(TTN):c.91632T>C (p.Leu30544=)
|
rs909346656
|
|
|
NM_001267550.2(TTN):c.9164-13T>C
|
|
|
|
NM_001267550.2(TTN):c.9164-14A>G
|
|
|
|
NM_001267550.2(TTN):c.9164-9A>T
|
|
|
|
NM_001267550.2(TTN):c.91650A>G (p.Val30550=)
|
rs1447696542
|
|
|
NM_001267550.2(TTN):c.91695G>A (p.Val30565=)
|
rs1553536237
|
|
|
NM_001267550.2(TTN):c.91701C>T (p.Ile30567=)
|
|
|
|
NM_001267550.2(TTN):c.91764T>C (p.Asp30588=)
|
|
|
|
NM_001267550.2(TTN):c.91774G>A (p.Asp30592Asn)
|
rs767435344
|
|
|
NM_001267550.2(TTN):c.91803C>A (p.Ala30601=)
|
|
|
|
NM_001267550.2(TTN):c.91803C>T (p.Ala30601=)
|
rs191961524
|
|
|
NM_001267550.2(TTN):c.91812A>G (p.Ala30604=)
|
|
|
|
NM_001267550.2(TTN):c.91852+12A>G
|
|
|
|
NM_001267550.2(TTN):c.91852+19_91852+21del
|
|
|
|
NM_001267550.2(TTN):c.91852+9A>G
|
rs1553535980
|
|
|
NM_001267550.2(TTN):c.91852+9A>T
|
rs1553535980
|
|
|
NM_001267550.2(TTN):c.91853-9T>C
|
rs377664739
|
|
|
NM_001267550.2(TTN):c.91878A>G (p.Pro30626=)
|
rs879211202
|
|
|
NM_001267550.2(TTN):c.9189C>T (p.His3063=)
|
rs374803648
|
|
|
NM_001267550.2(TTN):c.91905G>A (p.Glu30635=)
|
|
|
|
NM_001267550.2(TTN):c.92-14T>C
|
|
|
|
NM_001267550.2(TTN):c.92-15G>T
|
|
|
|
NM_001267550.2(TTN):c.92-6C>T
|
|
|
|
NM_001267550.2(TTN):c.92034T>C (p.Ser30678=)
|
|
|
|
NM_001267550.2(TTN):c.92049A>G (p.Lys30683=)
|
|
|
|
NM_001267550.2(TTN):c.9204G>A (p.Lys3068=)
|
|
|
|
NM_001267550.2(TTN):c.92052A>C (p.Leu30684=)
|
rs764401165
|
|
|
NM_001267550.2(TTN):c.92124T>C (p.Ser30708=)
|
|
|
|
NM_001267550.2(TTN):c.9213G>A (p.Glu3071=)
|
rs779657872
|
|
|
NM_001267550.2(TTN):c.92152+19T>G
|
|
|
|
NM_001267550.2(TTN):c.92152+9G>A
|
|
|
|
NM_001267550.2(TTN):c.92153-15G>C
|
|
|
|
NM_001267550.2(TTN):c.92153-15G>T
|
|
|
|
NM_001267550.2(TTN):c.92153-15_92153-12del
|
|
|
|
NM_001267550.2(TTN):c.92154T>G (p.Thr30718=)
|
|
|
|
NM_001267550.2(TTN):c.92190C>T (p.Asn30730=)
|
|
|
|
NM_001267550.2(TTN):c.921G>T (p.Val307=)
|
|
|
|
NM_001267550.2(TTN):c.92211C>A (p.Thr30737=)
|
rs1575483741
|
|
|
NM_001267550.2(TTN):c.92212C>T (p.Leu30738=)
|
|
|
|
NM_001267550.2(TTN):c.92214G>C (p.Leu30738=)
|
rs1575483710
|
|
|
NM_001267550.2(TTN):c.92232A>G (p.Glu30744=)
|
rs1395558232
|
|
|
NM_001267550.2(TTN):c.92274A>G (p.Arg30758=)
|
|
|
|
NM_001267550.2(TTN):c.92310C>T (p.Ile30770=)
|
rs1575482735
|
|
|
NM_001267550.2(TTN):c.92334A>T (p.Thr30778=)
|
|
|
|
NM_001267550.2(TTN):c.9234A>G (p.Glu3078=)
|
|
|
|
NM_001267550.2(TTN):c.92358A>G (p.Thr30786=)
|
|
|
|
NM_001267550.2(TTN):c.92373T>C (p.Tyr30791=)
|
|
|
|
NM_001267550.2(TTN):c.92382T>C (p.His30794=)
|
|
|
|
NM_001267550.2(TTN):c.9240A>G (p.Glu3080=)
|
|
|
|
NM_001267550.2(TTN):c.92415T>A (p.Pro30805=)
|
rs2154147973
|
|
|
NM_001267550.2(TTN):c.92424C>T (p.Gly30808=)
|
|
|
|
NM_001267550.2(TTN):c.92436C>T (p.Leu30812=)
|
rs1698357709
|
|
|
NM_001267550.2(TTN):c.9243T>C (p.Val3081=)
|
|
|
|
NM_001267550.2(TTN):c.92466A>C (p.Pro30822=)
|
rs2154147939
|
|
|
NM_001267550.2(TTN):c.9246T>C (p.Ser3082=)
|
rs761865862
|
|
|
NM_001267550.2(TTN):c.92478A>C (p.Thr30826=)
|
rs1575481034
|
|
|
NM_001267550.2(TTN):c.92499A>C (p.Thr30833=)
|
rs2154147913
|
|
|
NM_001267550.2(TTN):c.92502A>T (p.Ser30834=)
|
|
|
|
NM_001267550.2(TTN):c.92544T>C (p.Asp30848=)
|
rs2154147885
|
|
|
NM_001267550.2(TTN):c.92562T>A (p.Ile30854=)
|
rs797008735
|
|
|
NM_001267550.2(TTN):c.92562T>C (p.Ile30854=)
|
|
|
|
NM_001267550.2(TTN):c.92565G>C (p.Gly30855=)
|
|
|
|
NM_001267550.2(TTN):c.92589C>T (p.Ala30863=)
|
|
|
|
NM_001267550.2(TTN):c.92625A>T (p.Ala30875=)
|
|
|
|
NM_001267550.2(TTN):c.92638A>C (p.Arg30880=)
|
rs768169370
|
|
|
NM_001267550.2(TTN):c.92643T>C (p.Tyr30881=)
|
|
|
|
NM_001267550.2(TTN):c.92646A>C (p.Thr30882=)
|
|
|
|
NM_001267550.2(TTN):c.92667T>C (p.Gly30889=)
|
rs1049769742
|
|
|
NM_001267550.2(TTN):c.92730G>A (p.Val30910=)
|
rs2154147757
|
|
|
NM_001267550.2(TTN):c.92748A>C (p.Ala30916=)
|
|
|
|
NM_001267550.2(TTN):c.92757G>C (p.Arg30919=)
|
rs2154147738
|
|
|
NM_001267550.2(TTN):c.92778C>T (p.Asp30926=)
|
|
|
|
NM_001267550.2(TTN):c.92784T>C (p.Asp30928=)
|
rs767238891
|
|
|
NM_001267550.2(TTN):c.92805T>C (p.His30935=)
|
|
|
|
NM_001267550.2(TTN):c.92814A>G (p.Arg30938=)
|
rs752977354
|
|
|
NM_001267550.2(TTN):c.92820G>A (p.Gly30940=)
|
|
|
|
NM_001267550.2(TTN):c.9282C>T (p.Asp3094=)
|
rs2154341526
|
|
|
NM_001267550.2(TTN):c.92835C>T (p.Leu30945=)
|
rs2154147686
|
|
|
NM_001267550.2(TTN):c.92913T>C (p.Asp30971=)
|
|
|
|
NM_001267550.2(TTN):c.92931C>T (p.Ser30977=)
|
|
|
|
NM_001267550.2(TTN):c.92940C>A (p.Thr30980=)
|
|
|
|
NM_001267550.2(TTN):c.92940C>T (p.Thr30980=)
|
rs747384204
|
|
|
NM_001267550.2(TTN):c.92946T>C (p.Thr30982=)
|
|
|
|
NM_001267550.2(TTN):c.93006T>C (p.Ser31002=)
|
rs1575475627
|
|
|
NM_001267550.2(TTN):c.93015G>A (p.Lys31005=)
|
|
|
|
NM_001267550.2(TTN):c.93030C>G (p.Thr31010=)
|
rs764535070
|
|
|
NM_001267550.2(TTN):c.93033G>A (p.Val31011=)
|
|
|
|
NM_001267550.2(TTN):c.93033G>C (p.Val31011=)
|
|
|
|
NM_001267550.2(TTN):c.93033G>T (p.Val31011=)
|
|
|
|
NM_001267550.2(TTN):c.93039G>A (p.Val31013=)
|
rs1575475300
|
|
|
NM_001267550.2(TTN):c.9305+14T>C
|
|
|
|
NM_001267550.2(TTN):c.9305+18G>C
|
rs2090812228
|
|
|
NM_001267550.2(TTN):c.9305+19C>T
|
|
|
|
NM_001267550.2(TTN):c.9305+20T>C
|
|
|
|
NM_001267550.2(TTN):c.93054C>T (p.Gly31018=)
|
rs2154147509
|
|
|
NM_001267550.2(TTN):c.93057A>C (p.Pro31019=)
|
|
|
|
NM_001267550.2(TTN):c.9306-14C>A
|
rs1574526731
|
|
|
NM_001267550.2(TTN):c.9306-5C>T
|
rs2154341458
|
|
|
NM_001267550.2(TTN):c.9306-9C>A
|
rs2090787313
|
|
|
NM_001267550.2(TTN):c.93063C>T (p.Gly31021=)
|
rs1575474931
|
|
|
NM_001267550.2(TTN):c.93072C>T (p.Thr31024=)
|
rs1698122140
|
|
|
NM_001267550.2(TTN):c.93081T>C (p.Asp31027=)
|
|
|
|
NM_001267550.2(TTN):c.93084G>A (p.Val31028=)
|
|
|
|
NM_001267550.2(TTN):c.93093A>G (p.Gly31031=)
|
|
|
|
NM_001267550.2(TTN):c.93099T>C (p.Ala31033=)
|
|
|
|
NM_001267550.2(TTN):c.9309A>T (p.Ile3103=)
|
|
|
|
NM_001267550.2(TTN):c.930A>G (p.Ala310=)
|
rs771544059
|
|
|
NM_001267550.2(TTN):c.93114T>C (p.Asp31038=)
|
|
|
|
NM_001267550.2(TTN):c.93117C>A (p.Ala31039=)
|
|
|
|
NM_001267550.2(TTN):c.93129C>T (p.Asp31043=)
|
rs758336721
|
|
|
NM_001267550.2(TTN):c.9312G>A (p.Lys3104=)
|
rs1261853793
|
|
|
NM_001267550.2(TTN):c.93165A>G (p.Lys31055=)
|
|
|
|
NM_001267550.2(TTN):c.93166C>A (p.Arg31056=)
|
rs72648250
|
|
|
NM_001267550.2(TTN):c.93168A>C (p.Arg31056=)
|
|
|
|
NM_001267550.2(TTN):c.93168A>T (p.Arg31056=)
|
rs1202181464
|
|
|
NM_001267550.2(TTN):c.93231C>T (p.Val31077=)
|
rs757561934
|
|
|
NM_001267550.2(TTN):c.93237C>T (p.Asp31079=)
|
rs794727469
|
|
|
NM_001267550.2(TTN):c.93258C>T (p.Tyr31086=)
|
rs1698040646
|
|
|
NM_001267550.2(TTN):c.93282T>C (p.Asn31094=)
|
rs1698030124
|
|
|
NM_001267550.2(TTN):c.93291T>C (p.Gly31097=)
|
rs1167328025
|
|
|
NM_001267550.2(TTN):c.93330C>T (p.Ala31110=)
|
rs1553529751
|
|
|
NM_001267550.2(TTN):c.93333A>G (p.Thr31111=)
|
rs752118339
|
|
|
NM_001267550.2(TTN):c.93348A>C (p.Pro31116=)
|
|
|
|
NM_001267550.2(TTN):c.93348A>G (p.Pro31116=)
|
rs750732179
|
|
|
NM_001267550.2(TTN):c.93354G>A (p.Arg31118=)
|
|
|
|
NM_001267550.2(TTN):c.93363T>C (p.Asp31121=)
|
|
|
|
NM_001267550.2(TTN):c.9336C>T (p.His3112=)
|
rs2154341434
|
|
|
NM_001267550.2(TTN):c.93375T>C (p.Thr31125=)
|
rs1060503936
|
|
|
NM_001267550.2(TTN):c.93399T>A (p.Ala31133=)
|
rs1553529493
|
|
|
NM_001267550.2(TTN):c.93417C>T (p.His31139=)
|
|
|
|
NM_001267550.2(TTN):c.93432G>T (p.Arg31144=)
|
rs377261293
|
|
|
NM_001267550.2(TTN):c.9345G>C (p.Leu3115=)
|
rs768111768
|
|
|
NM_001267550.2(TTN):c.93465G>A (p.Lys31155=)
|
rs1351647298
|
|
|
NM_001267550.2(TTN):c.93516A>G (p.Thr31172=)
|
|
|
|
NM_001267550.2(TTN):c.93528T>G (p.Leu31176=)
|
rs1266553798
|
|
|
NM_001267550.2(TTN):c.93534G>A (p.Glu31178=)
|
rs761565425
|
|
|
NM_001267550.2(TTN):c.93537A>G (p.Lys31179=)
|
rs776904754
|
|
|
NM_001267550.2(TTN):c.93555T>C (p.Arg31185=)
|
|
|
|
NM_001267550.2(TTN):c.9357C>A (p.Thr3119=)
|
|
|
|
NM_001267550.2(TTN):c.93582T>C (p.Tyr31194=)
|
|
|
|
NM_001267550.2(TTN):c.93642T>C (p.Thr31214=)
|
|
|
|
NM_001267550.2(TTN):c.93663C>T (p.Thr31221=)
|
rs1489398531
|
|
|
NM_001267550.2(TTN):c.93666T>C (p.Asn31222=)
|
|
|
|
NM_001267550.2(TTN):c.93669G>A (p.Gln31223=)
|
|
|
|
NM_001267550.2(TTN):c.93678T>C (p.Thr31226=)
|
|
|
|
NM_001267550.2(TTN):c.93687A>G (p.Ala31229=)
|
|
|
|
NM_001267550.2(TTN):c.93693C>T (p.Ser31231=)
|
|
|
|
NM_001267550.2(TTN):c.93702C>A (p.Thr31234=)
|
|
|
|
NM_001267550.2(TTN):c.93702C>T (p.Thr31234=)
|
rs374976660
|
|
|
NM_001267550.2(TTN):c.93711A>G (p.Val31237=)
|
|
|
|
NM_001267550.2(TTN):c.93735C>T (p.Pro31245=)
|
rs1697864721
|
|
|
NM_001267550.2(TTN):c.93741A>G (p.Val31247=)
|
|
|
|
NM_001267550.2(TTN):c.9375G>A (p.Gly3125=)
|
|
|
|
NM_001267550.2(TTN):c.93783A>G (p.Arg31261=)
|
|
|
|
NM_001267550.2(TTN):c.93834C>T (p.Ser31278=)
|
|
|
|
NM_001267550.2(TTN):c.9384A>C (p.Thr3128=)
|
rs369520274
|
|
|
NM_001267550.2(TTN):c.9384A>G (p.Thr3128=)
|
rs369520274
|
|
|
NM_001267550.2(TTN):c.93876T>C (p.Asn31292=)
|
|
|
|
NM_001267550.2(TTN):c.93882T>G (p.Ala31294=)
|
|
|
|
NM_001267550.2(TTN):c.93888T>C (p.Val31296=)
|
|
|
|
NM_001267550.2(TTN):c.93891A>G (p.Lys31297=)
|
|
|
|
NM_001267550.2(TTN):c.93912G>A (p.Val31304=)
|
rs1288876263
|
|
|
NM_001267550.2(TTN):c.93939C>T (p.Thr31313=)
|
rs771653811
|
|
|
NM_001267550.2(TTN):c.9396A>G (p.Gly3132=)
|
rs1358537431
|
|
|
NM_001267550.2(TTN):c.93975G>C (p.Ser31325=)
|
|
|
|
NM_001267550.2(TTN):c.939C>T (p.Ile313=)
|
rs2093703236
|
|
|
NM_001267550.2(TTN):c.94065T>C (p.Ala31355=)
|
|
|
|
NM_001267550.2(TTN):c.94086T>C (p.Ser31362=)
|
rs919009792
|
|
|
NM_001267550.2(TTN):c.94095C>T (p.Arg31365=)
|
|
|
|
NM_001267550.2(TTN):c.94137T>C (p.Tyr31379=)
|
|
|
|
NM_001267550.2(TTN):c.94221C>A (p.Val31407=)
|
|
|
|
NM_001267550.2(TTN):c.94233T>C (p.Ala31411=)
|
|
|
|
NM_001267550.2(TTN):c.94239C>A (p.Thr31413=)
|
rs1042759526
|
|
|
NM_001267550.2(TTN):c.94240A>C (p.Arg31414=)
|
rs369418580
|
|
|
NM_001267550.2(TTN):c.94245T>C (p.Pro31415=)
|
rs2154146523
|
|
|
NM_001267550.2(TTN):c.9426A>T (p.Val3142=)
|
|
|
|
NM_001267550.2(TTN):c.94281T>C (p.Ile31427=)
|
|
|
|
NM_001267550.2(TTN):c.94282C>G (p.Arg31428Gly)
|
rs190282707
|
|
|
NM_001267550.2(TTN):c.94296C>T (p.Pro31432=)
|
rs1575459498
|
|
|
NM_001267550.2(TTN):c.94302C>T (p.His31434=)
|
rs771212876
|
|
|
NM_001267550.2(TTN):c.94323T>C (p.Ile31441=)
|
|
|
|
NM_001267550.2(TTN):c.94335T>G (p.Val31445=)
|
|
|
|
NM_001267550.2(TTN):c.94362T>C (p.Leu31454=)
|
rs951474388
|
|
|
NM_001267550.2(TTN):c.94392A>G (p.Leu31464=)
|
|
|
|
NM_001267550.2(TTN):c.94422A>G (p.Val31474=)
|
rs372786373
|
|
|
NM_001267550.2(TTN):c.94431G>A (p.Leu31477=)
|
|
|
|
NM_001267550.2(TTN):c.9444C>T (p.Arg3148=)
|
rs2154341403
|
|
|
NM_001267550.2(TTN):c.94464T>G (p.Ala31488=)
|
rs138888307
|
|
|
NM_001267550.2(TTN):c.9447C>A (p.Ile3149=)
|
rs771530976
|
|
|
NM_001267550.2(TTN):c.94485C>T (p.Ser31495=)
|
rs781211212
|
|
|
NM_001267550.2(TTN):c.94494A>G (p.Ser31498=)
|
rs1559155162
|
|
|
NM_001267550.2(TTN):c.9450A>T (p.Arg3150=)
|
|
|
|
NM_001267550.2(TTN):c.94518A>G (p.Pro31506=)
|
rs2154146352
|
|
|
NM_001267550.2(TTN):c.94522+11C>T
|
|
|
|
NM_001267550.2(TTN):c.94522+7A>G
|
|
|
|
NM_001267550.2(TTN):c.94523-18T>C
|
|
|
|
NM_001267550.2(TTN):c.94530A>G (p.Pro31510=)
|
rs902954756
|
|
|
NM_001267550.2(TTN):c.94533C>A (p.Gly31511=)
|
rs755850773
|
|
|
NM_001267550.2(TTN):c.94548A>C (p.Thr31516=)
|
rs1242603048
|
|
|
NM_001267550.2(TTN):c.94548A>T (p.Thr31516=)
|
rs1242603048
|
|
|
NM_001267550.2(TTN):c.94563A>T (p.Ser31521=)
|
|
|
|
NM_001267550.2(TTN):c.94587C>T (p.Ala31529=)
|
|
|
|
NM_001267550.2(TTN):c.94593G>C (p.Ala31531=)
|
rs373301015
|
|
|
NM_001267550.2(TTN):c.94596T>C (p.Tyr31532=)
|
|
|
|
NM_001267550.2(TTN):c.94620C>T (p.Gly31540=)
|
|
|
|
NM_001267550.2(TTN):c.9462G>A (p.Lys3154=)
|
|
|
|
NM_001267550.2(TTN):c.94689T>C (p.Ile31563=)
|
rs2154146127
|
|
|
NM_001267550.2(TTN):c.9471+11C>G
|
|
|
|
NM_001267550.2(TTN):c.9471+11C>T
|
rs755055119
|
|
|
NM_001267550.2(TTN):c.9471+12A>G
|
|
|
|
NM_001267550.2(TTN):c.9471+13T>C
|
rs1553989643
|
|
|
NM_001267550.2(TTN):c.9471+14A>G
|
rs1169026543
|
|
|
NM_001267550.2(TTN):c.9471+19A>C
|
|
|
|
NM_001267550.2(TTN):c.9471+8C>T
|
|
|
|
NM_001267550.2(TTN):c.9472-10C>A
|
rs1561184482
|
|
|
NM_001267550.2(TTN):c.9472-10C>T
|
|
|
|
NM_001267550.2(TTN):c.9472-19T>C
|
|
|
|
NM_001267550.2(TTN):c.9472-21_9472-19del
|
rs201990196
|
|
|
NM_001267550.2(TTN):c.9472-8A>T
|
rs2154340839
|
|
|
NM_001267550.2(TTN):c.94725T>C (p.Ser31575=)
|
rs1575452360
|
|
|
NM_001267550.2(TTN):c.94728A>G (p.Glu31576=)
|
rs1363584144
|
|
|
NM_001267550.2(TTN):c.94734C>T (p.Asp31578=)
|
rs2154146101
|
|
|
NM_001267550.2(TTN):c.9474C>G (p.Val3158=)
|
rs1553988120
|
|
|
NM_001267550.2(TTN):c.94761G>A (p.Lys31587=)
|
|
|
|
NM_001267550.2(TTN):c.9477T>C (p.Ile3159=)
|
rs2154340836
|
|
|
NM_001267550.2(TTN):c.94785A>G (p.Lys31595=)
|
|
|
|
NM_001267550.2(TTN):c.94797T>C (p.Ser31599=)
|
|
|
|
NM_001267550.2(TTN):c.94828+10A>G
|
|
|
|
NM_001267550.2(TTN):c.94828+11G>T
|
|
|
|
NM_001267550.2(TTN):c.94828+16C>T
|
|
|
|
NM_001267550.2(TTN):c.94828+17A>C
|
|
|
|
NM_001267550.2(TTN):c.94828+17A>G
|
rs1057523850
|
|
|
NM_001267550.2(TTN):c.94828+9T>C
|
rs1198377519
|
|
|
NM_001267550.2(TTN):c.94829-17G>C
|
rs2555819
|
|
|
NM_001267550.2(TTN):c.94829-17del
|
rs2154145943
|
|
|
NM_001267550.2(TTN):c.94829-7C>A
|
|
|
|
NM_001267550.2(TTN):c.94842C>T (p.Ala31614=)
|
|
|
|
NM_001267550.2(TTN):c.94869T>C (p.Asp31623=)
|
rs752379093
|
|
|
NM_001267550.2(TTN):c.94875T>C (p.Val31625=)
|
rs749477930
|
|
|
NM_001267550.2(TTN):c.94884A>G (p.Arg31628=)
|
|
|
|
NM_001267550.2(TTN):c.94906G>A (p.Asp31636Asn)
|
rs776793953
|
|
|
NM_001267550.2(TTN):c.94923C>T (p.Gly31641=)
|
|
|
|
NM_001267550.2(TTN):c.94935C>A (p.Pro31645=)
|
|
|
|
NM_001267550.2(TTN):c.94962G>A (p.Lys31654=)
|
rs2154145847
|
|
|
NM_001267550.2(TTN):c.94986C>T (p.Val31662=)
|
rs2154145833
|
|
|
NM_001267550.2(TTN):c.95001T>C (p.Thr31667=)
|
|
|
|
NM_001267550.2(TTN):c.95004C>G (p.Gly31668=)
|
|
|
|
NM_001267550.2(TTN):c.95038A>C (p.Arg31680=)
|
|
|
|
NM_001267550.2(TTN):c.9504T>C (p.Phe3168=)
|
|
|
|
NM_001267550.2(TTN):c.95088C>T (p.Thr31696=)
|
|
|
|
NM_001267550.2(TTN):c.95091G>A (p.Lys31697=)
|
rs1553521545
|
|
|
NM_001267550.2(TTN):c.95097G>C (p.Val31699=)
|
rs2154145735
|
|
|
NM_001267550.2(TTN):c.95100T>C (p.Ser31700=)
|
rs1223272611
|
|
|
NM_001267550.2(TTN):c.95109C>A (p.Val31703=)
|
rs1382410052
|
|
|
NM_001267550.2(TTN):c.95119+15T>C
|
|
|
|
NM_001267550.2(TTN):c.95119+8T>A
|
rs778245729
|
|
|
NM_001267550.2(TTN):c.95119+8T>G
|
|
|
|
NM_001267550.2(TTN):c.95120-10C>T
|
|
|
|
NM_001267550.2(TTN):c.95120-13A>G
|
|
|
|
NM_001267550.2(TTN):c.95120-16A>G
|
rs772361510
|
|
|
NM_001267550.2(TTN):c.95120-7G>A
|
|
|
|
NM_001267550.2(TTN):c.95124C>T (p.Ser31708=)
|
|
|
|
NM_001267550.2(TTN):c.95133A>C (p.Pro31711=)
|
|
|
|
NM_001267550.2(TTN):c.95142G>A (p.Lys31714=)
|
|
|
|
NM_001267550.2(TTN):c.95226C>T (p.His31742=)
|
|
|
|
NM_001267550.2(TTN):c.95247G>A (p.Glu31749=)
|
rs1553521108
|
|
|
NM_001267550.2(TTN):c.95256G>A (p.Arg31752=)
|
|
|
|
NM_001267550.2(TTN):c.95283A>G (p.Glu31761=)
|
rs1553521060
|
|
|
NM_001267550.2(TTN):c.95292C>A (p.Thr31764=)
|
|
|
|
NM_001267550.2(TTN):c.95298C>T (p.Ser31766=)
|
|
|
|
NM_001267550.2(TTN):c.95304C>A (p.Val31768=)
|
rs367755163
|
|
|
NM_001267550.2(TTN):c.95307T>G (p.Val31769=)
|
rs2154145503
|
|
|
NM_001267550.2(TTN):c.95313G>A (p.Arg31771=)
|
|
|
|
NM_001267550.2(TTN):c.95322G>A (p.Lys31774=)
|
|
|
|
NM_001267550.2(TTN):c.95343A>C (p.Arg31781=)
|
|
|
|
NM_001267550.2(TTN):c.95346G>C (p.Val31782=)
|
|
|
|
NM_001267550.2(TTN):c.95358C>T (p.Asn31786=)
|
rs869320743
|
|
|
NM_001267550.2(TTN):c.95376G>A (p.Val31792=)
|
rs1247897056
|
|
|
NM_001267550.2(TTN):c.95382T>C (p.Val31794=)
|
|
|
|
NM_001267550.2(TTN):c.95385A>G (p.Glu31795=)
|
|
|
|
NM_001267550.2(TTN):c.95416+17T>C
|
|
|
|
NM_001267550.2(TTN):c.95416+18_95416+19insAACACTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCC
|
|
|
|
NM_001267550.2(TTN):c.95416+9T>G
|
|
|
|
NM_001267550.2(TTN):c.95417-10T>C
|
|
|
|
NM_001267550.2(TTN):c.95417-18C>A
|
|
|
|
NM_001267550.2(TTN):c.95417-6A>G
|
rs1166561105
|
|
|
NM_001267550.2(TTN):c.95417-6A>T
|
|
|
|
NM_001267550.2(TTN):c.95417-7T>A
|
|
|
|
NM_001267550.2(TTN):c.95417-7dup
|
|
|
|
NM_001267550.2(TTN):c.95417-8A>G
|
rs2154145286
|
|
|
NM_001267550.2(TTN):c.95466G>A (p.Glu31822=)
|
|
|
|
NM_001267550.2(TTN):c.95469T>C (p.His31823=)
|
rs2154145225
|
|
|
NM_001267550.2(TTN):c.9546T>C (p.Asp3182=)
|
|
|
|
NM_001267550.2(TTN):c.95475C>A (p.Ile31825=)
|
rs1164190108
|
|
|
NM_001267550.2(TTN):c.95478T>A (p.Ile31826=)
|
|
|
|
NM_001267550.2(TTN):c.95514A>G (p.Glu31838=)
|
|
|
|
NM_001267550.2(TTN):c.95574C>T (p.Asn31858=)
|
|
|
|
NM_001267550.2(TTN):c.95580C>T (p.Asp31860=)
|
rs2154145125
|
|
|
NM_001267550.2(TTN):c.95592T>C (p.Tyr31864=)
|
rs1347262523
|
|
|
NM_001267550.2(TTN):c.95601G>A (p.Arg31867=)
|
rs921847266
|
|
|
NM_001267550.2(TTN):c.95613C>T (p.Thr31871=)
|
|
|
|
NM_001267550.2(TTN):c.95628T>C (p.Gly31876=)
|
rs756362917
|
|
|
NM_001267550.2(TTN):c.95649G>A (p.Val31883=)
|
rs1553520236
|
|
|
NM_001267550.2(TTN):c.95670T>C (p.Gly31890=)
|
|
|
|
NM_001267550.2(TTN):c.95682C>T (p.Pro31894=)
|
|
|
|
NM_001267550.2(TTN):c.95712A>G (p.Arg31904=)
|
|
|
|
NM_001267550.2(TTN):c.95722+10A>G
|
|
|
|
NM_001267550.2(TTN):c.95722+18T>C
|
rs2154145000
|
|
|
NM_001267550.2(TTN):c.95722+20C>A
|
|
|
|
NM_001267550.2(TTN):c.95722+20C>T
|
|
|
|
NM_001267550.2(TTN):c.95723-12T>C
|
|
|
|
NM_001267550.2(TTN):c.95723-16T>G
|
|
|
|
NM_001267550.2(TTN):c.95723-19C>T
|
|
|
|
NM_001267550.2(TTN):c.95730T>C (p.Pro31910=)
|
rs1476848656
|
|
|
NM_001267550.2(TTN):c.95733A>G (p.Gly31911=)
|
|
|
|
NM_001267550.2(TTN):c.95745T>C (p.Ala31915=)
|
rs2154144312
|
|
|
NM_001267550.2(TTN):c.95748A>T (p.Pro31916=)
|
rs1018003300
|
|
|
NM_001267550.2(TTN):c.95766C>A (p.Thr31922=)
|
rs2154144289
|
|
|
NM_001267550.2(TTN):c.95784G>A (p.Leu31928=)
|
rs1403864542
|
|
|
NM_001267550.2(TTN):c.95799C>A (p.Pro31933=)
|
|
|
|
NM_001267550.2(TTN):c.95811T>C (p.Gly31937=)
|
rs2154144265
|
|
|
NM_001267550.2(TTN):c.95823T>C (p.Ile31941=)
|
|
|
|
NM_001267550.2(TTN):c.95847A>G (p.Gln31949=)
|
|
|
|
NM_001267550.2(TTN):c.95874A>G (p.Arg31958=)
|
|
|
|
NM_001267550.2(TTN):c.95880T>C (p.His31960=)
|
rs1696036684
|
|
|
NM_001267550.2(TTN):c.95883C>G (p.Thr31961=)
|
rs1553519247
|
|
|
NM_001267550.2(TTN):c.95892A>G (p.Thr31964=)
|
rs879183167
|
|
|
NM_001267550.2(TTN):c.95928A>G (p.Lys31976=)
|
|
|
|
NM_001267550.2(TTN):c.95943T>C (p.Tyr31981=)
|
rs1306678008
|
|
|
NM_001267550.2(TTN):c.9594G>A (p.Val3198=)
|
|
|
|
NM_001267550.2(TTN):c.96022A>C (p.Arg32008=)
|
rs756449788
|
|
|
NM_001267550.2(TTN):c.96028+18T>C
|
|
|
|
NM_001267550.2(TTN):c.96029-12T>C
|
|
|
|
NM_001267550.2(TTN):c.96029-14C>A
|
|
|
|
NM_001267550.2(TTN):c.96036A>T (p.Pro32012=)
|
|
|
|
NM_001267550.2(TTN):c.96042T>G (p.Leu32014=)
|
rs2154144025
|
|
|
NM_001267550.2(TTN):c.96069T>G (p.Thr32023=)
|
|
|
|
NM_001267550.2(TTN):c.96075C>T (p.Thr32025=)
|
|
|
|
NM_001267550.2(TTN):c.96084T>C (p.Ala32028=)
|
rs1553518744
|
|
|
NM_001267550.2(TTN):c.96090C>T (p.Ala32030=)
|
rs1575420522
|
|
|
NM_001267550.2(TTN):c.96096G>A (p.Leu32032=)
|
rs1197841768
|
|
|
NM_001267550.2(TTN):c.96117T>C (p.Ser32039=)
|
|
|
|
NM_001267550.2(TTN):c.96141G>A (p.Thr32047=)
|
rs752553035
|
|
|
NM_001267550.2(TTN):c.96153G>A (p.Gln32051=)
|
|
|
|
NM_001267550.2(TTN):c.96189C>G (p.Thr32063=)
|
rs544886477
|
|
|
NM_001267550.2(TTN):c.9618T>C (p.Phe3206=)
|
rs878971586
|
|
|
NM_001267550.2(TTN):c.96228T>C (p.Asn32076=)
|
|
|
|
NM_001267550.2(TTN):c.96229C>A (p.Arg32077=)
|
rs751316145
|
|
|
NM_001267550.2(TTN):c.96252A>T (p.Thr32084=)
|
rs369626133
|
|
|
NM_001267550.2(TTN):c.96270A>G (p.Gln32090=)
|
rs2154143870
|
|
|
NM_001267550.2(TTN):c.96297T>C (p.Leu32099=)
|
|
|
|
NM_001267550.2(TTN):c.96310+20T>C
|
|
|
|
NM_001267550.2(TTN):c.96311-16_96311-15del
|
|
|
|
NM_001267550.2(TTN):c.96311-20T>A
|
|
|
|
NM_001267550.2(TTN):c.96311-20T>G
|
|
|
|
NM_001267550.2(TTN):c.96311-9G>A
|
rs2154143671
|
|
|
NM_001267550.2(TTN):c.96411C>G (p.Val32137=)
|
rs1329249610
|
|
|
NM_001267550.2(TTN):c.96414C>T (p.Asn32138=)
|
rs933403975
|
|
|
NM_001267550.2(TTN):c.96417T>C (p.Asn32139=)
|
|
|
|
NM_001267550.2(TTN):c.96423C>T (p.Ile32141=)
|
rs1356358644
|
|
|
NM_001267550.2(TTN):c.96453A>G (p.Ala32151=)
|
|
|
|
NM_001267550.2(TTN):c.96468T>G (p.Thr32156=)
|
rs2154143561
|
|
|
NM_001267550.2(TTN):c.96507T>C (p.Leu32169=)
|
|
|
|
NM_001267550.2(TTN):c.96519C>T (p.Thr32173=)
|
|
|
|
NM_001267550.2(TTN):c.96537G>A (p.Val32179=)
|
rs2154143503
|
|
|
NM_001267550.2(TTN):c.96540G>C (p.Leu32180=)
|
rs754837315
|
|
|
NM_001267550.2(TTN):c.96555T>C (p.Tyr32185=)
|
rs1575412584
|
|
|
NM_001267550.2(TTN):c.96570T>C (p.Pro32190=)
|
rs1223460802
|
|
|
NM_001267550.2(TTN):c.96588A>G (p.Ala32196=)
|
|
|
|
NM_001267550.2(TTN):c.9660T>C (p.Phe3220=)
|
|
|
|
NM_001267550.2(TTN):c.96610T>C (p.Leu32204=)
|
rs1419384451
|
|
|
NM_001267550.2(TTN):c.96618T>C (p.Pro32206=)
|
rs1553517635
|
|
|
NM_001267550.2(TTN):c.96681C>G (p.Leu32227=)
|
|
|
|
NM_001267550.2(TTN):c.96708A>T (p.Gly32236=)
|
rs752066259
|
|
|
NM_001267550.2(TTN):c.96711T>C (p.Tyr32237=)
|
|
|
|
NM_001267550.2(TTN):c.96720G>A (p.Glu32240=)
|
|
|
|
NM_001267550.2(TTN):c.96723C>G (p.Ala32241=)
|
rs1223885458
|
|
|
NM_001267550.2(TTN):c.96756T>C (p.Val32252=)
|
rs752935152
|
|
|
NM_001267550.2(TTN):c.9675C>T (p.Asn3225=)
|
|
|
|
NM_001267550.2(TTN):c.96774A>G (p.Thr32258=)
|
|
|
|
NM_001267550.2(TTN):c.96789T>A (p.Thr32263=)
|
|
|
|
NM_001267550.2(TTN):c.9678G>A (p.Arg3226=)
|
rs2154340773
|
|
|
NM_001267550.2(TTN):c.96798C>A (p.Ser32266=)
|
|
|
|
NM_001267550.2(TTN):c.96816A>G (p.Gln32272=)
|
rs2154143321
|
|
|
NM_001267550.2(TTN):c.96819C>T (p.Tyr32273=)
|
|
|
|
NM_001267550.2(TTN):c.96837A>T (p.Ala32279=)
|
rs1232489828
|
|
|
NM_001267550.2(TTN):c.96840A>G (p.Gln32280=)
|
rs776900012
|
|
|
NM_001267550.2(TTN):c.96852T>C (p.Gly32284=)
|
|
|
|
NM_001267550.2(TTN):c.96858A>G (p.Ser32286=)
|
rs1035330963
|
|
|
NM_001267550.2(TTN):c.96879A>C (p.Thr32293=)
|
rs373707659
|
|
|
NM_001267550.2(TTN):c.96879A>G (p.Thr32293=)
|
rs373707659
|
|
|
NM_001267550.2(TTN):c.96882C>T (p.Ala32294=)
|
|
|
|
NM_001267550.2(TTN):c.96897C>T (p.Asp32299=)
|
|
|
|
NM_001267550.2(TTN):c.96904+10A>G
|
|
|
|
NM_001267550.2(TTN):c.96904+13T>C
|
|
|
|
NM_001267550.2(TTN):c.96904+17C>A
|
|
|
|
NM_001267550.2(TTN):c.96904+8C>A
|
rs528358945
|
|
|
NM_001267550.2(TTN):c.96905-20G>A
|
|
|
|
NM_001267550.2(TTN):c.96957A>C (p.Pro32319=)
|
|
|
|
NM_001267550.2(TTN):c.96976C>T (p.Leu32326=)
|
rs752927644
|
|
|
NM_001267550.2(TTN):c.96996C>A (p.Gly32332=)
|
|
|
|
NM_001267550.2(TTN):c.96996C>T (p.Gly32332=)
|
|
|
|
NM_001267550.2(TTN):c.96999T>A (p.Arg32333=)
|
|
|
|
NM_001267550.2(TTN):c.96999T>G (p.Arg32333=)
|
|
|
|
NM_001267550.2(TTN):c.969T>C (p.Ser323=)
|
rs895378286
|
|
|
NM_001267550.2(TTN):c.9703+14G>T
|
|
|
|
NM_001267550.2(TTN):c.9703+17T>G
|
|
|
|
NM_001267550.2(TTN):c.9703+18T>C
|
rs2090425523
|
|
|
NM_001267550.2(TTN):c.9704-11T>C
|
|
|
|
NM_001267550.2(TTN):c.9704-12A>G
|
|
|
|
NM_001267550.2(TTN):c.9704-20T>G
|
|
|
|
NM_001267550.2(TTN):c.9704-4C>T
|
rs2154339976
|
|
|
NM_001267550.2(TTN):c.9704-5C>G
|
rs769068555
|
|
|
NM_001267550.2(TTN):c.9704-6T>A
|
|
|
|
NM_001267550.2(TTN):c.9704-8A>C
|
|
|
|
NM_001267550.2(TTN):c.97053G>A (p.Glu32351=)
|
|
|
|
NM_001267550.2(TTN):c.97074C>T (p.His32358=)
|
|
|
|
NM_001267550.2(TTN):c.97086T>A (p.Ala32362=)
|
rs1429840010
|
|
|
NM_001267550.2(TTN):c.9708T>C (p.Pro3236=)
|
rs1354735473
|
|
|
NM_001267550.2(TTN):c.97146G>A (p.Lys32382=)
|
rs781006271
|
|
|
NM_001267550.2(TTN):c.9714G>A (p.Pro3238=)
|
rs886042397
|
|
|
NM_001267550.2(TTN):c.97155C>A (p.Thr32385=)
|
rs766443861
|
|
|
NM_001267550.2(TTN):c.97173C>G (p.Thr32391=)
|
rs1695176905
|
|
|
NM_001267550.2(TTN):c.97179A>G (p.Lys32393=)
|
rs2154142813
|
|
|
NM_001267550.2(TTN):c.97185C>T (p.Ile32395=)
|
rs2154142811
|
|
|
NM_001267550.2(TTN):c.97192+15C>G
|
rs777269400
|
|
|
NM_001267550.2(TTN):c.97193-14C>A
|
|
|
|
NM_001267550.2(TTN):c.97193-19dup
|
|
|
|
NM_001267550.2(TTN):c.97193-6_97193-3del
|
rs777375916
|
|
|
NM_001267550.2(TTN):c.97230T>C (p.Asp32410=)
|
rs769351622
|
|
|
NM_001267550.2(TTN):c.97251T>C (p.Ile32417=)
|
rs1429064462
|
|
|
NM_001267550.2(TTN):c.9726G>A (p.Leu3242=)
|
rs755986577
|
|
|
NM_001267550.2(TTN):c.972A>G (p.Pro324=)
|
rs1060503973
|
|
|
NM_001267550.2(TTN):c.97326T>C (p.Ala32442=)
|
rs2154142545
|
|
|
NM_001267550.2(TTN):c.97374G>A (p.Thr32458=)
|
|
|
|
NM_001267550.2(TTN):c.97383T>C (p.Phe32461=)
|
rs2154142503
|
|
|
NM_001267550.2(TTN):c.97395C>G (p.Thr32465=)
|
rs755328785
|
|
|
NM_001267550.2(TTN):c.97446T>C (p.Ile32482=)
|
|
|
|
NM_001267550.2(TTN):c.97467G>A (p.Glu32489=)
|
|
|
|
NM_001267550.2(TTN):c.97492+12G>C
|
|
|
|
NM_001267550.2(TTN):c.97492+13G>C
|
rs754036734
|
|
|
NM_001267550.2(TTN):c.97492+20C>T
|
|
|
|
NM_001267550.2(TTN):c.97492+3_97492+6dup
|
rs755299669
|
|
|
NM_001267550.2(TTN):c.97493-14_97493-13del
|
|
|
|
NM_001267550.2(TTN):c.97493-5T>C
|
rs886042619
|
|
|
NM_001267550.2(TTN):c.97506C>A (p.Pro32502=)
|
rs2154141736
|
|
|
NM_001267550.2(TTN):c.97509A>G (p.Pro32503=)
|
rs2154141728
|
|
|
NM_001267550.2(TTN):c.97524A>C (p.Ile32508=)
|
rs755848026
|
|
|
NM_001267550.2(TTN):c.97563C>T (p.Tyr32521=)
|
rs2154141681
|
|
|
NM_001267550.2(TTN):c.97584C>T (p.Gly32528=)
|
rs2154141663
|
|
|
NM_001267550.2(TTN):c.97599A>C (p.Gly32533=)
|
|
|
|
NM_001267550.2(TTN):c.97605T>C (p.Ile32535=)
|
rs760676361
|
|
|
NM_001267550.2(TTN):c.97611G>A (p.Glu32537=)
|
|
|
|
NM_001267550.2(TTN):c.97623G>C (p.Val32541=)
|
rs1060503961
|
|
|
NM_001267550.2(TTN):c.9762G>A (p.Lys3254=)
|
rs1057524449
|
|
|
NM_001267550.2(TTN):c.97659T>C (p.Pro32553=)
|
rs983103889
|
|
|
NM_001267550.2(TTN):c.97674G>T (p.Arg32558=)
|
|
|
|
NM_001267550.2(TTN):c.97683C>T (p.Ser32561=)
|
rs1575384283
|
|
|
NM_001267550.2(TTN):c.97686T>C (p.Thr32562=)
|
rs2154141572
|
|
|
NM_001267550.2(TTN):c.97695T>C (p.Thr32565=)
|
rs2154141565
|
|
|
NM_001267550.2(TTN):c.97701C>A (p.Gly32567=)
|
|
|
|
NM_001267550.2(TTN):c.97707A>G (p.Glu32569=)
|
rs1553513879
|
|
|
NM_001267550.2(TTN):c.97710T>C (p.Tyr32570=)
|
|
|
|
NM_001267550.2(TTN):c.97716C>T (p.His32572=)
|
|
|
|
NM_001267550.2(TTN):c.97722C>T (p.Val32574=)
|
|
|
|
NM_001267550.2(TTN):c.97734T>C (p.Asn32578=)
|
rs1165168872
|
|
|
NM_001267550.2(TTN):c.97738A>C (p.Arg32580=)
|
|
|
|
NM_001267550.2(TTN):c.97752A>G (p.Lys32584=)
|
|
|
|
NM_001267550.2(TTN):c.97761T>C (p.Arg32587=)
|
|
|
|
NM_001267550.2(TTN):c.97795+15T>C
|
|
|
|
NM_001267550.2(TTN):c.97795+8C>T
|
rs2154141488
|
|
|
NM_001267550.2(TTN):c.97796-17C>A
|
|
|
|
NM_001267550.2(TTN):c.97796-18T>G
|
|
|
|
NM_001267550.2(TTN):c.97796-21TATTCT[2]
|
|
|
|
NM_001267550.2(TTN):c.97796-8A>C
|
rs1693808668
|
|
|
NM_001267550.2(TTN):c.97800T>C (p.Pro32600=)
|
rs1693804358
|
|
|
NM_001267550.2(TTN):c.97818C>T (p.Asn32606=)
|
rs1553512177
|
|
|
NM_001267550.2(TTN):c.97839A>G (p.Thr32613=)
|
rs2154140595
|
|
|
NM_001267550.2(TTN):c.97887A>T (p.Gly32629=)
|
rs755894229
|
|
|
NM_001267550.2(TTN):c.9789C>G (p.Ser3263=)
|
rs138313387
|
|
|
NM_001267550.2(TTN):c.97944C>G (p.Thr32648=)
|
rs367773598
|
|
|
NM_001267550.2(TTN):c.97983T>G (p.Thr32661=)
|
rs774412007
|
|
|
NM_001267550.2(TTN):c.97992C>T (p.His32664=)
|
rs794729549
|
|
|
NM_001267550.2(TTN):c.98013C>T (p.Tyr32671=)
|
|
|
|
NM_001267550.2(TTN):c.98019C>T (p.Phe32673=)
|
|
|
|
NM_001267550.2(TTN):c.9801G>A (p.Gln3267=)
|
rs2154339928
|
|
|
NM_001267550.2(TTN):c.98028A>G (p.Leu32676=)
|
rs2154140488
|
|
|
NM_001267550.2(TTN):c.98079C>A (p.Val32693=)
|
|
|
|
NM_001267550.2(TTN):c.98098+10A>C
|
rs2154140442
|
|
|
NM_001267550.2(TTN):c.98098+12G>A
|
|
|
|
NM_001267550.2(TTN):c.98098+15C>T
|
rs1559093759
|
|
|
NM_001267550.2(TTN):c.98098+7C>A
|
|
|
|
NM_001267550.2(TTN):c.98098+9T>C
|
rs2288325
|
|
|
NM_001267550.2(TTN):c.98099-12del
|
|
|
|
NM_001267550.2(TTN):c.98099-13C>A
|
|
|
|
NM_001267550.2(TTN):c.98099-14_98099-11del
|
|
|
|
NM_001267550.2(TTN):c.98099-9T>C
|
|
|
|
NM_001267550.2(TTN):c.98103T>C (p.Tyr32701=)
|
|
|
|
NM_001267550.2(TTN):c.9813C>G (p.Ser3271=)
|
|
|
|
NM_001267550.2(TTN):c.98157T>C (p.Gly32719=)
|
rs1373988691
|
|
|
NM_001267550.2(TTN):c.9819C>T (p.Tyr3273=)
|
rs2154339915
|
|
|
NM_001267550.2(TTN):c.98208T>C (p.Cys32736=)
|
rs921383690
|
|
|
NM_001267550.2(TTN):c.98232T>C (p.Asp32744=)
|
|
|
|
NM_001267550.2(TTN):c.98274T>C (p.Thr32758=)
|
|
|
|
NM_001267550.2(TTN):c.98277G>A (p.Glu32759=)
|
|
|
|
NM_001267550.2(TTN):c.9828G>A (p.Glu3276=)
|
rs2154339911
|
|
|
NM_001267550.2(TTN):c.98304T>C (p.Gly32768=)
|
|
|
|
NM_001267550.2(TTN):c.98310T>C (p.Ser32770=)
|
|
|
|
NM_001267550.2(TTN):c.9834G>T (p.Leu3278=)
|
rs2154339910
|
|
|
NM_001267550.2(TTN):c.98358C>A (p.Val32786=)
|
|
|
|
NM_001267550.2(TTN):c.98358C>T (p.Val32786=)
|
rs1466390296
|
|
|
NM_001267550.2(TTN):c.98376G>A (p.Val32792=)
|
rs2154140110
|
|
|
NM_001267550.2(TTN):c.98385T>C (p.Ser32795=)
|
rs373396567
|
|
|
NM_001267550.2(TTN):c.98403G>C (p.Gly32801=)
|
|
|
|
NM_001267550.2(TTN):c.98406A>G (p.Pro32802=)
|
rs2154140086
|
|
|
NM_001267550.2(TTN):c.98407C>T (p.Leu32803=)
|
rs767525789
|
|
|
NM_001267550.2(TTN):c.9846C>T (p.Gly3282=)
|
|
|
|
NM_001267550.2(TTN):c.98472T>C (p.Gly32824=)
|
|
|
|
NM_001267550.2(TTN):c.98490C>T (p.Gly32830=)
|
rs2154140025
|
|
|
NM_001267550.2(TTN):c.98496C>A (p.Ile32832=)
|
|
|
|
NM_001267550.2(TTN):c.98505A>G (p.Arg32835=)
|
rs2154140007
|
|
|
NM_001267550.2(TTN):c.98506C>A (p.Arg32836=)
|
|
|
|
NM_001267550.2(TTN):c.98574A>G (p.Lys32858=)
|
rs2154139939
|
|
|
NM_001267550.2(TTN):c.98577C>A (p.Gly32859=)
|
|
|
|
NM_001267550.2(TTN):c.98604C>T (p.Phe32868=)
|
rs2154139916
|
|
|
NM_001267550.2(TTN):c.98646G>A (p.Leu32882=)
|
|
|
|
NM_001267550.2(TTN):c.98649A>G (p.Lys32883=)
|
|
|
|
NM_001267550.2(TTN):c.98652T>C (p.Ser32884=)
|
|
|
|
NM_001267550.2(TTN):c.98676A>G (p.Thr32892=)
|
|
|
|
NM_001267550.2(TTN):c.98679A>G (p.Pro32893=)
|
|
|
|
NM_001267550.2(TTN):c.98683+14C>T
|
rs779592120
|
|
|
NM_001267550.2(TTN):c.98683+18C>G
|
rs1207576960
|
|
|
NM_001267550.2(TTN):c.98684-13C>T
|
|
|
|
NM_001267550.2(TTN):c.98684-13_98684-10dup
|
rs2154139728
|
|
|
NM_001267550.2(TTN):c.98684-18T>C
|
|
|
|
NM_001267550.2(TTN):c.98715A>G (p.Glu32905=)
|
|
|
|
NM_001267550.2(TTN):c.98718A>G (p.Val32906=)
|
|
|
|
NM_001267550.2(TTN):c.98721C>T (p.Leu32907=)
|
rs375361462
|
|
|
NM_001267550.2(TTN):c.9873G>A (p.Gly3291=)
|
|
|
|
NM_001267550.2(TTN):c.98745C>T (p.Ser32915=)
|
rs2154139672
|
|
|
NM_001267550.2(TTN):c.98793C>T (p.Gly32931=)
|
|
|
|
NM_001267550.2(TTN):c.98799C>T (p.Tyr32933=)
|
|
|
|
NM_001267550.2(TTN):c.98811A>G (p.Lys32937=)
|
|
|
|
NM_001267550.2(TTN):c.98814G>A (p.Glu32938=)
|
rs879188237
|
|
|
NM_001267550.2(TTN):c.98826C>T (p.Asp32942=)
|
|
|
|
NM_001267550.2(TTN):c.98829G>A (p.Lys32943=)
|
|
|
|
NM_001267550.2(TTN):c.98862C>T (p.Thr32954=)
|
|
|
|
NM_001267550.2(TTN):c.98871C>T (p.Tyr32957=)
|
|
|
|
NM_001267550.2(TTN):c.98874T>C (p.Thr32958=)
|
rs2154139580
|
|
|
NM_001267550.2(TTN):c.98898T>C (p.Ala32966=)
|
rs2154139561
|
|
|
NM_001267550.2(TTN):c.98901G>A (p.Glu32967=)
|
rs1156601785
|
|
|
NM_001267550.2(TTN):c.98910C>T (p.Phe32970=)
|
|
|
|
NM_001267550.2(TTN):c.98919C>T (p.Ile32973=)
|
rs776133124
|
|
|
NM_001267550.2(TTN):c.98937C>T (p.Gly32979=)
|
rs1033038689
|
|
|
NM_001267550.2(TTN):c.98940G>A (p.Leu32980=)
|
|
|
|
NM_001267550.2(TTN):c.98946G>A (p.Glu32982=)
|
|
|
|
NM_001267550.2(TTN):c.98989+14A>G
|
|
|
|
NM_001267550.2(TTN):c.98989+17_98989+19del
|
|
|
|
NM_001267550.2(TTN):c.98989+19G>A
|
|
|
|
NM_001267550.2(TTN):c.98989+9_98989+10del
|
rs2154139504
|
|
|
NM_001267550.2(TTN):c.98990-11A>C
|
rs1692982332
|
|
|
NM_001267550.2(TTN):c.98990-11A>T
|
rs1692982332
|
|
|
NM_001267550.2(TTN):c.98990-19T>C
|
|
|
|
NM_001267550.2(TTN):c.99027A>G (p.Ser33009=)
|
rs1692959497
|
|
|
NM_001267550.2(TTN):c.99033C>T (p.Ser33011=)
|
|
|
|
NM_001267550.2(TTN):c.99048T>C (p.Thr33016=)
|
|
|
|
NM_001267550.2(TTN):c.99048T>G (p.Thr33016=)
|
rs570697555
|
|
|
NM_001267550.2(TTN):c.99112A>C (p.Arg33038=)
|
|
|
|
NM_001267550.2(TTN):c.99141G>A (p.Lys33047=)
|
rs770179579
|
|
|
NM_001267550.2(TTN):c.99144C>T (p.Ser33048=)
|
rs748466729
|
|
|
NM_001267550.2(TTN):c.99171A>G (p.Gln33057=)
|
|
|
|
NM_001267550.2(TTN):c.99204G>A (p.Glu33068=)
|
|
|
|
NM_001267550.2(TTN):c.99210A>G (p.Glu33070=)
|
|
|
|
NM_001267550.2(TTN):c.99213C>T (p.Phe33071=)
|
rs2154139226
|
|
|
NM_001267550.2(TTN):c.9927T>C (p.Tyr3309=)
|
|
|
|
NM_001267550.2(TTN):c.99285C>A (p.Leu33095=)
|
rs1575341165
|
|
|
NM_001267550.2(TTN):c.99289+14G>C
|
|
|
|
NM_001267550.2(TTN):c.99289+15G>C
|
|
|
|
NM_001267550.2(TTN):c.99289+15G>T
|
rs796187661
|
|
|
NM_001267550.2(TTN):c.99290-10T>C
|
|
|
|
NM_001267550.2(TTN):c.99290-17T>C
|
|
|
|
NM_001267550.2(TTN):c.99290-6G>A
|
rs727504987
|
|
|
NM_001267550.2(TTN):c.99290-8T>C
|
rs1692344764
|
|
|
NM_001267550.2(TTN):c.99303A>G (p.Pro33101=)
|
rs2154138528
|
|
|
NM_001267550.2(TTN):c.99312C>T (p.Arg33104=)
|
rs750582625
|
|
|
NM_001267550.2(TTN):c.99324G>A (p.Lys33108=)
|
|
|
|
NM_001267550.2(TTN):c.99354T>C (p.Ala33118=)
|
|
|
|
NM_001267550.2(TTN):c.99369G>A (p.Gln33123=)
|
rs1060503953
|
|
|
NM_001267550.2(TTN):c.99372T>A (p.Ile33124=)
|
|
|
|
NM_001267550.2(TTN):c.99379A>C (p.Arg33127=)
|
|
|
|
NM_001267550.2(TTN):c.99408A>G (p.Arg33136=)
|
|
|
|
NM_001267550.2(TTN):c.99423C>T (p.Leu33141=)
|
rs2154138445
|
|
|
NM_001267550.2(TTN):c.99456T>C (p.Asp33152=)
|
rs2154138430
|
|
|
NM_001267550.2(TTN):c.99459A>T (p.Gly33153=)
|
|
|
|
NM_001267550.2(TTN):c.9945T>C (p.Asn3315=)
|
rs747810725
|
|
|
NM_001267550.2(TTN):c.99465A>C (p.Thr33155=)
|
|
|
|
NM_001267550.2(TTN):c.99468C>T (p.His33156=)
|
|
|
|
NM_001267550.2(TTN):c.99477A>G (p.Thr33159=)
|
rs761143099
|
|
|
NM_001267550.2(TTN):c.99501T>C (p.Asp33167=)
|
rs2154138400
|
|
|
NM_001267550.2(TTN):c.99516C>G (p.Thr33172=)
|
|
|
|
NM_001267550.2(TTN):c.99534G>A (p.Glu33178=)
|
|
|
|
NM_001267550.2(TTN):c.99546A>G (p.Val33182=)
|
|
|
|
NM_001267550.2(TTN):c.99555T>C (p.Ser33185=)
|
|
|
|
NM_001267550.2(TTN):c.99567C>G (p.Leu33189=)
|
rs745708104
|
|
|
NM_001267550.2(TTN):c.99567C>T (p.Leu33189=)
|
rs745708104
|
|
|
NM_001267550.2(TTN):c.99606G>A (p.Leu33202=)
|
rs1222365557
|
|
|
NM_001267550.2(TTN):c.99627T>C (p.Ala33209=)
|
|
|
|
NM_001267550.2(TTN):c.99636C>G (p.Ser33212=)
|
rs1575326710
|
|
|
NM_001267550.2(TTN):c.99636C>T (p.Ser33212=)
|
|
|
|
NM_001267550.2(TTN):c.99639A>G (p.Thr33213=)
|
rs755522463
|
|
|
NM_001267550.2(TTN):c.99681C>G (p.Ala33227=)
|
|
|
|
NM_001267550.2(TTN):c.99693C>T (p.Phe33231=)
|
rs2154138294
|
|
|
NM_001267550.2(TTN):c.99696T>C (p.His33232=)
|
|
|
|
NM_001267550.2(TTN):c.99709T>C (p.Leu33237=)
|
rs879202597
|
|
|
NM_001267550.2(TTN):c.99756T>G (p.Thr33252=)
|
|
|
|
NM_001267550.2(TTN):c.99765C>T (p.Val33255=)
|
rs1060503965
|
|
|
NM_001267550.2(TTN):c.99789T>A (p.Thr33263=)
|
rs574923385
|
|
|
NM_001267550.2(TTN):c.99804C>T (p.Tyr33268=)
|
rs2154138223
|
|
|
NM_001267550.2(TTN):c.99810C>A (p.Val33270=)
|
rs564536939
|
|
|
NM_001267550.2(TTN):c.99816C>G (p.Leu33272=)
|
|
|
|
NM_001267550.2(TTN):c.9981A>C (p.Ser3327=)
|
|
|
|
NM_001267550.2(TTN):c.99879A>G (p.Lys33293=)
|
|
|
|
NM_001267550.2(TTN):c.9988+10C>T
|
|
|
|
NM_001267550.2(TTN):c.9988+15C>G
|
|
|
|
NM_001267550.2(TTN):c.9989-11del
|
rs2154339717
|
|
|
NM_001267550.2(TTN):c.9989-14G>A
|
rs757352738
|
|
|
NM_001267550.2(TTN):c.9989-14G>T
|
|
|
|
NM_001267550.2(TTN):c.9989-5T>G
|
rs878854434
|
|
|
NM_001267550.2(TTN):c.99910T>C (p.Leu33304=)
|
rs1162207200
|
|
|
NM_001267550.2(TTN):c.99933C>T (p.Ser33311=)
|
rs780775160
|
|
|
NM_001267550.2(TTN):c.99975C>T (p.Asn33325=)
|
|
|
|
NM_001267550.2(TTN):c.99978T>C (p.Tyr33326=)
|
rs1280421729
|
|
|
NM_001267550.2(TTN):c.999C>A (p.Ser333=)
|
|
|
|
NM_001276345.2(TNNT2):c.114G>T (p.Ala38=)
|
|
|
|
NM_001276345.2(TNNT2):c.147G>A (p.Glu49=)
|
|
|
|
NM_001276345.2(TNNT2):c.163+12G>T
|
rs45580032
|
|
|
NM_001276345.2(TNNT2):c.163+17G>A
|
|
|
|
NM_001276345.2(TNNT2):c.163+8T>C
|
|
|
|
NM_001276345.2(TNNT2):c.164-15T>C
|
|
|
|
NM_001276345.2(TNNT2):c.164-5T>C
|
|
|
|
NM_001276345.2(TNNT2):c.199+13G>A
|
|
|
|
NM_001276345.2(TNNT2):c.199+9A>T
|
rs749187235
|
|
|
NM_001276345.2(TNNT2):c.200-11A>T
|
|
|
|
NM_001276345.2(TNNT2):c.200-15T>G
|
|
|
|
NM_001276345.2(TNNT2):c.200-16C>G
|
|
|
|
NM_001276345.2(TNNT2):c.200-6C>T
|
rs1659750096
|
|
|
NM_001276345.2(TNNT2):c.200-8T>C
|
|
|
|
NM_001276345.2(TNNT2):c.207A>G (p.Pro69=)
|
rs531954320
|
|
|
NM_001276345.2(TNNT2):c.213G>A (p.Glu71=)
|
|
|
|
NM_001276345.2(TNNT2):c.225A>G (p.Pro75=)
|
rs2102273890
|
|
|
NM_001276345.2(TNNT2):c.228G>A (p.Lys76=)
|
rs727504869
|
|
|
NM_001276345.2(TNNT2):c.233+10G>A
|
rs543193858
|
|
|
NM_001276345.2(TNNT2):c.233+9G>A
|
rs1553283445
|
|
|
NM_001276345.2(TNNT2):c.234-10T>C
|
rs1342160801
|
|
|
NM_001276345.2(TNNT2):c.234-13C>A
|
|
|
|
NM_001276345.2(TNNT2):c.234-13C>T
|
|
|
|
NM_001276345.2(TNNT2):c.234-6C>T
|
|
|
|
NM_001276345.2(TNNT2):c.234-9C>G
|
rs1571631213
|
|
|
NM_001276345.2(TNNT2):c.237G>T (p.Ser79=)
|
rs3729845
|
|
|
NM_001276345.2(TNNT2):c.255G>T (p.Val85=)
|
rs780115529
|
|
|
NM_001276345.2(TNNT2):c.270C>G (p.Pro90=)
|
rs140245123
|
|
|
NM_001276345.2(TNNT2):c.270C>T (p.Pro90=)
|
rs140245123
|
|
|
NM_001276345.2(TNNT2):c.279G>A (p.Glu93=)
|
|
|
|
NM_001276345.2(TNNT2):c.285G>A (p.Val95=)
|
rs1060503885
|
|
|
NM_001276345.2(TNNT2):c.294+8G>C
|
rs374092436
|
|
|
NM_001276345.2(TNNT2):c.295-17C>T
|
|
|
|
NM_001276345.2(TNNT2):c.295-18G>A
|
|
|
|
NM_001276345.2(TNNT2):c.300C>T (p.Ile100=)
|
rs1230932782
|
|
|
NM_001276345.2(TNNT2):c.321G>A (p.Lys107=)
|
rs397516459
|
|
|
NM_001276345.2(TNNT2):c.325C>T (p.Leu109=)
|
rs779857935
|
|
|
NM_001276345.2(TNNT2):c.327G>A (p.Leu109=)
|
rs2102261737
|
|
|
NM_001276345.2(TNNT2):c.342G>A (p.Ala114=)
|
rs918054429
|
|
|
NM_001276345.2(TNNT2):c.351G>A (p.Glu117=)
|
rs1659436211
|
|
|
NM_001276345.2(TNNT2):c.357C>T (p.His119=)
|
|
|
|
NM_001276345.2(TNNT2):c.363G>A (p.Glu121=)
|
rs2102261144
|
|
|
NM_001276345.2(TNNT2):c.366C>T (p.Asn122=)
|
rs979006197
|
|
|
NM_001276345.2(TNNT2):c.378G>A (p.Glu126=)
|
|
|
|
NM_001276345.2(TNNT2):c.41+14G>A
|
|
|
|
NM_001276345.2(TNNT2):c.41+16A>T
|
rs370729174
|
|
|
NM_001276345.2(TNNT2):c.41+6dup
|
rs1479180367
|
|
|
NM_001276345.2(TNNT2):c.412-4T>G
|
rs757304775
|
|
|
NM_001276345.2(TNNT2):c.412-6_412-4del
|
rs397516462
|
|
|
NM_001276345.2(TNNT2):c.42-11G>C
|
|
|
|
NM_001276345.2(TNNT2):c.42-12T>C
|
|
|
|
NM_001276345.2(TNNT2):c.42-18_42-17del
|
|
|
|
NM_001276345.2(TNNT2):c.42-6T>C
|
rs1660720268
|
|
|
NM_001276345.2(TNNT2):c.42-8G>A
|
|
|
|
NM_001276345.2(TNNT2):c.420T>C (p.Arg140=)
|
|
|
|
NM_001276345.2(TNNT2):c.441G>A (p.Gln147=)
|
rs1044313920
|
|
|
NM_001276345.2(TNNT2):c.444G>A (p.Gln148=)
|
rs2102253556
|
|
|
NM_001276345.2(TNNT2):c.447C>T (p.Arg149=)
|
rs1257601230
|
|
|
NM_001276345.2(TNNT2):c.453G>C (p.Arg151=)
|
rs786204406
|
|
|
NM_001276345.2(TNNT2):c.465G>A (p.Glu155=)
|
rs1416632771
|
|
|
NM_001276345.2(TNNT2):c.489+16C>A
|
rs1220628508
|
|
|
NM_001276345.2(TNNT2):c.489+18del
|
|
|
|
NM_001276345.2(TNNT2):c.489+7G>T
|
rs2102252517
|
|
|
NM_001276345.2(TNNT2):c.489+9C>A
|
rs1060503884
|
|
|
NM_001276345.2(TNNT2):c.490-10T>C
|
rs1659073969
|
|
|
NM_001276345.2(TNNT2):c.490-11C>A
|
|
|
|
NM_001276345.2(TNNT2):c.490-14C>G
|
|
|
|
NM_001276345.2(TNNT2):c.490-69C>T
|
rs483352834
|
|
|
NM_001276345.2(TNNT2):c.498G>A (p.Arg166=)
|
rs750399630
|
|
|
NM_001276345.2(TNNT2):c.507A>G (p.Arg169=)
|
|
|
|
NM_001276345.2(TNNT2):c.513G>A (p.Glu171=)
|
rs1378883954
|
|
|
NM_001276345.2(TNNT2):c.52+13_52+17dup
|
|
|
|
NM_001276345.2(TNNT2):c.52+18T>C
|
|
|
|
NM_001276345.2(TNNT2):c.528G>A (p.Arg176=)
|
|
|
|
NM_001276345.2(TNNT2):c.53-11C>T
|
|
|
|
NM_001276345.2(TNNT2):c.53-4G>A
|
rs2102308667
|
|
|
NM_001276345.2(TNNT2):c.547C>A (p.Arg183=)
|
|
|
|
NM_001276345.2(TNNT2):c.549G>A (p.Arg183=)
|
|
|
|
NM_001276345.2(TNNT2):c.558G>A (p.Lys186=)
|
|
|
|
NM_001276345.2(TNNT2):c.570C>T (p.Asn190=)
|
rs764636823
|
|
|
NM_001276345.2(TNNT2):c.57A>T (p.Ala19=)
|
rs1571673874
|
|
|
NM_001276345.2(TNNT2):c.600+13C>T
|
|
|
|
NM_001276345.2(TNNT2):c.600+13CAG[3]
|
|
|
|
NM_001276345.2(TNNT2):c.600+14A>G
|
|
|
|
NM_001276345.2(TNNT2):c.600+14A>T
|
|
|
|
NM_001276345.2(TNNT2):c.600+20G>T
|
|
|
|
NM_001276345.2(TNNT2):c.601-7G>T
|
|
|
|
NM_001276345.2(TNNT2):c.601-8C>A
|
rs397516475
|
|
|
NM_001276345.2(TNNT2):c.609+18C>T
|
|
|
|
NM_001276345.2(TNNT2):c.610-10C>T
|
rs375547142
|
|
|
NM_001276345.2(TNNT2):c.610-12C>T
|
|
|
|
NM_001276345.2(TNNT2):c.610-4C>A
|
|
|
|
NM_001276345.2(TNNT2):c.610-9A>C
|
|
|
|
NM_001276345.2(TNNT2):c.645G>C (p.Arg215=)
|
rs1571605548
|
|
|
NM_001276345.2(TNNT2):c.67+18G>C
|
|
|
|
NM_001276345.2(TNNT2):c.67+20G>A
|
|
|
|
NM_001276345.2(TNNT2):c.67+7G>T
|
rs1312770200
|
|
|
NM_001276345.2(TNNT2):c.68-6C>A
|
rs941842854
|
|
|
NM_001276345.2(TNNT2):c.681G>A (p.Lys227=)
|
rs2102234206
|
|
|
NM_001276345.2(TNNT2):c.696C>T (p.Asp232=)
|
rs2102234025
|
|
|
NM_001276345.2(TNNT2):c.714G>A (p.Gln238=)
|
|
|
|
NM_001276345.2(TNNT2):c.715C>T (p.Leu239=)
|
|
|
|
NM_001276345.2(TNNT2):c.719+13A>C
|
rs563883763
|
|
|
NM_001276345.2(TNNT2):c.719+13A>G
|
rs563883763
|
|
|
NM_001276345.2(TNNT2):c.719+17A>G
|
|
|
|
NM_001276345.2(TNNT2):c.719+18T>C
|
|
|
|
NM_001276345.2(TNNT2):c.720-10G>A
|
rs2102229886
|
|
|
NM_001276345.2(TNNT2):c.720-14C>G
|
|
|
|
NM_001276345.2(TNNT2):c.720-32_720-14dup
|
|
|
|
NM_001276345.2(TNNT2):c.720-6G>T
|
rs113471285
|
|
|
NM_001276345.2(TNNT2):c.732G>A (p.Lys244=)
|
|
|
|
NM_001276345.2(TNNT2):c.736C>T (p.Leu246=)
|
rs786204407
|
|
|
NM_001276345.2(TNNT2):c.750C>T (p.Ile250=)
|
rs2102229287
|
|
|
NM_001276345.2(TNNT2):c.753T>C (p.Tyr251=)
|
|
|
|
NM_001276345.2(TNNT2):c.780G>A (p.Leu260=)
|
rs1658580183
|
|
|
NM_001276345.2(TNNT2):c.807T>C (p.Tyr269=)
|
|
|
|
NM_001276345.2(TNNT2):c.810+15T>C
|
rs2102228364
|
|
|
NM_001276345.2(TNNT2):c.810+18C>T
|
|
|
|
NM_001276345.2(TNNT2):c.810+7C>T
|
rs373069229
|
|
|
NM_001276345.2(TNNT2):c.811-17T>C
|
|
|
|
NM_001276345.2(TNNT2):c.811-18T>C
|
|
|
|
NM_001276345.2(TNNT2):c.811-7C>T
|
|
|
|
NM_001276345.2(TNNT2):c.828C>T (p.Asn276=)
|
rs1553279337
|
|
|
NM_001276345.2(TNNT2):c.834C>T (p.Ile278=)
|
rs1278830616
|
|
|
NM_001276345.2(TNNT2):c.840T>C (p.Asp280=)
|
|
|
|
NM_001276345.2(TNNT2):c.851+11G>A
|
|
|
|
NM_001276345.2(TNNT2):c.851+8T>C
|
|
|
|
NM_001276345.2(TNNT2):c.852-7C>T
|
rs1233814100
|
|
|
NM_001276345.2(TNNT2):c.852-9C>T
|
|
|
|
NM_001276345.2(TNNT2):c.861C>G (p.Thr287=)
|
rs754211195
|
|
|
NM_001276345.2(TNNT2):c.861C>T (p.Thr287=)
|
|
|
|
NM_001276345.2(TNNT2):c.864C>A (p.Arg288=)
|
|
|
|
NM_001276345.2(TNNT2):c.870G>A (p.Lys290=)
|
|
|
|
NM_001276345.2(TNNT2):c.879C>T (p.Val293=)
|
|
|
|
NM_001276345.2(TNNT2):c.885G>A (p.Gly295=)
|
rs2102212901
|
|
|
NM_001276345.2(TNNT2):c.897G>A (p.Ter299=)
|
rs1311267989
|
|
|
NM_001276345.2(TNNT2):c.97G>A (p.Glu33Lys)
|
rs377474357
|
|
|
NM_001276345.2(TNNT2):c.98-13T>C
|
|
|
|
NM_001276345.2(TNNT2):c.98-19G>A
|
|
|
|
NM_001276345.2(TNNT2):c.98-4C>G
|
rs775895925
|
|
|
NM_001276345.2(TNNT2):c.98-6C>T
|
rs1335680363
|
|
|
NM_001276345.2(TNNT2):c.98-9C>A
|
|
|
|
NM_001289808.2(CRYAB):c.117G>T (p.Pro39=)
|
|
|
|
NM_001289808.2(CRYAB):c.12C>T (p.Ala4=)
|
|
|
|
NM_001289808.2(CRYAB):c.130C>T (p.Leu44=)
|
rs782720245
|
|
|
NM_001289808.2(CRYAB):c.135T>C (p.Ser45=)
|
rs1355387914
|
|
|
NM_001289808.2(CRYAB):c.153A>G (p.Pro51=)
|
|
|
|
NM_001289808.2(CRYAB):c.166C>A (p.Arg56=)
|
rs387907338
|
|
|
NM_001289808.2(CRYAB):c.171A>C (p.Ala57=)
|
|
|
|
NM_001289808.2(CRYAB):c.195C>T (p.Leu65=)
|
|
|
|
NM_001289808.2(CRYAB):c.198A>G (p.Ser66=)
|
rs143101974
|
|
|
NM_001289808.2(CRYAB):c.201+10C>G
|
rs2137384200
|
|
|
NM_001289808.2(CRYAB):c.201+11C>A
|
|
|
|
NM_001289808.2(CRYAB):c.201+13A>C
|
|
|
|
NM_001289808.2(CRYAB):c.201+17C>G
|
rs782366958
|
|
|
NM_001289808.2(CRYAB):c.201+17C>T
|
rs782366958
|
|
|
NM_001289808.2(CRYAB):c.202-18T>C
|
rs1057522206
|
|
|
NM_001289808.2(CRYAB):c.202-8A>G
|
|
|
|
NM_001289808.2(CRYAB):c.219C>T (p.Asp73=)
|
rs1555165414
|
|
|
NM_001289808.2(CRYAB):c.220A>C (p.Arg74=)
|
rs781913291
|
|
|
NM_001289808.2(CRYAB):c.267C>T (p.Leu89=)
|
rs2137381927
|
|
|
NM_001289808.2(CRYAB):c.279G>A (p.Val93=)
|
|
|
|
NM_001289808.2(CRYAB):c.280T>C (p.Leu94=)
|
|
|
|
NM_001289808.2(CRYAB):c.282G>A (p.Leu94=)
|
|
|
|
NM_001289808.2(CRYAB):c.300G>A (p.Val100=)
|
|
|
|
NM_001289808.2(CRYAB):c.324+10T>C
|
|
|
|
NM_001289808.2(CRYAB):c.324+11T>C
|
rs2137381677
|
|
|
NM_001289808.2(CRYAB):c.324+13T>G
|
rs370222107
|
|
|
NM_001289808.2(CRYAB):c.324+19T>G
|
|
|
|
NM_001289808.2(CRYAB):c.33C>T (p.Arg11=)
|
rs782430984
|
|
|
NM_001289808.2(CRYAB):c.375A>C (p.Pro125=)
|
rs886047687
|
|
|
NM_001289808.2(CRYAB):c.408C>T (p.Ser136=)
|
rs1592506223
|
|
|
NM_001289808.2(CRYAB):c.414A>G (p.Ser138=)
|
|
|
|
NM_001289808.2(CRYAB):c.423G>C (p.Gly141=)
|
rs781792556
|
|
|
NM_001289808.2(CRYAB):c.429C>T (p.Leu143=)
|
|
|
|
NM_001289808.2(CRYAB):c.432T>G (p.Thr144=)
|
|
|
|
NM_001289808.2(CRYAB):c.438T>C (p.Asn146=)
|
|
|
|
NM_001289808.2(CRYAB):c.471C>G (p.Arg157=)
|
rs373551429
|
|
|
NM_001289808.2(CRYAB):c.474C>A (p.Thr158=)
|
|
|
|
NM_001289808.2(CRYAB):c.480C>T (p.Pro160=)
|
rs782200096
|
|
|
NM_001289808.2(CRYAB):c.498G>A (p.Lys166=)
|
|
|
|
NM_001289808.2(CRYAB):c.510C>A (p.Thr170=)
|
rs147970333
|
|
|
NM_001289808.2(CRYAB):c.510C>T (p.Thr170=)
|
rs147970333
|
|
|
NM_001289808.2(CRYAB):c.519C>T (p.Pro173=)
|
|
|
|
NM_001289808.2(CRYAB):c.60C>G (p.Pro20=)
|
|
|
|
NM_001289808.2(CRYAB):c.66C>T (p.Arg22=)
|
rs1310997127
|
|
|
NM_001289808.2(CRYAB):c.93C>T (p.His31=)
|
rs1592509748
|
|
|
NM_001289808.2(CRYAB):c.96G>A (p.Leu32=)
|
rs782402748
|
|
|
NM_001289808.2(CRYAB):c.96G>T (p.Leu32=)
|
rs782402748
|
|
|
NM_001318895.3(FHL2):c.156+9T>C
|
rs1573341781
|
|
|
NM_001318895.3(FHL2):c.157-9G>A
|
|
|
|
NM_001318895.3(FHL2):c.243T>C (p.Ala81=)
|
|
|
|
NM_001318895.3(FHL2):c.270A>G (p.Thr90=)
|
|
|
|
NM_001318895.3(FHL2):c.285C>T (p.Asn95=)
|
rs374383740
|
|
|
NM_001318895.3(FHL2):c.331+10C>A
|
|
|
|
NM_001318895.3(FHL2):c.332-11_332-3del
|
|
|
|
NM_001318895.3(FHL2):c.332-14G>T
|
|
|
|
NM_001318895.3(FHL2):c.336C>T (p.Thr112=)
|
rs140501334
|
|
|
NM_001318895.3(FHL2):c.351C>T (p.Tyr117=)
|
rs1553415161
|
|
|
NM_001318895.3(FHL2):c.414C>A (p.Thr138=)
|
rs1013627686
|
|
|
NM_001318895.3(FHL2):c.414C>T (p.Thr138=)
|
|
|
|
NM_001318895.3(FHL2):c.429C>T (p.Pro143=)
|
|
|
|
NM_001318895.3(FHL2):c.486C>T (p.Cys162=)
|
|
|
|
NM_001318895.3(FHL2):c.501+16C>T
|
|
|
|
NM_001318895.3(FHL2):c.501+17C>T
|
rs761990478
|
|
|
NM_001318895.3(FHL2):c.501+8A>T
|
|
|
|
NM_001318895.3(FHL2):c.502-10G>A
|
|
|
|
NM_001318895.3(FHL2):c.502-12T>C
|
|
|
|
NM_001318895.3(FHL2):c.502-13C>G
|
|
|
|
NM_001318895.3(FHL2):c.502-5T>C
|
rs2104487279
|
|
|
NM_001318895.3(FHL2):c.513G>C (p.Thr171=)
|
|
|
|
NM_001318895.3(FHL2):c.540C>T (p.Pro180=)
|
rs1210749693
|
|
|
NM_001318895.3(FHL2):c.576G>A (p.Arg192=)
|
rs747844229
|
|
|
NM_001318895.3(FHL2):c.612T>C (p.Asp204=)
|
|
|
|
NM_001318895.3(FHL2):c.675C>A (p.Thr225=)
|
rs1426474074
|
|
|
NM_001318895.3(FHL2):c.72G>A (p.Glu24=)
|
|
|
|
NM_001318895.3(FHL2):c.735T>C (p.His245=)
|
rs1573267301
|
|
|
NM_001318895.3(FHL2):c.759G>A (p.Lys253=)
|
rs1680246034
|
|
|
NM_001318895.3(FHL2):c.801G>A (p.Arg267=)
|
rs1573266848
|
|
|
NM_001318895.3(FHL2):c.816C>T (p.Cys272=)
|
rs1573266714
|
|
|
NM_001347702.2(SYNE1):c.1452C>A (p.Ile484=)
|
|
|
|
NM_001386795.1(DTNA):c.1001+10C>A
|
rs2095698605
|
|
|
NM_001386795.1(DTNA):c.1001+12T>C
|
|
|
|
NM_001386795.1(DTNA):c.1001+7A>G
|
rs2149448019
|
|
|
NM_001386795.1(DTNA):c.1002-19A>G
|
|
|
|
NM_001386795.1(DTNA):c.1002-2337G>A
|
|
|
|
NM_001386795.1(DTNA):c.1002-2340T>G
|
|
|
|
NM_001386795.1(DTNA):c.1002-7_1002-3del
|
|
|
|
NM_001386795.1(DTNA):c.102C>T (p.Thr34=)
|
|
|
|
NM_001386795.1(DTNA):c.1085+11A>G
|
rs2149544048
|
|
|
NM_001386795.1(DTNA):c.1085+19A>T
|
|
|
|
NM_001386795.1(DTNA):c.114A>T (p.Ala38=)
|
rs1005316955
|
|
|
NM_001386795.1(DTNA):c.1176-10T>C
|
rs2149710302
|
|
|
NM_001386795.1(DTNA):c.1176-12C>T
|
|
|
|
NM_001386795.1(DTNA):c.1209C>T (p.Asn403=)
|
rs1603062913
|
|
|
NM_001386795.1(DTNA):c.1248C>T (p.Gly416=)
|
|
|
|
NM_001386795.1(DTNA):c.1253+9C>T
|
|
|
|
NM_001386795.1(DTNA):c.1254-9C>T
|
|
|
|
NM_001386795.1(DTNA):c.1254-9_1254-8del
|
rs1568718398
|
|
|
NM_001386795.1(DTNA):c.1344A>C (p.Ser448=)
|
|
|
|
NM_001386795.1(DTNA):c.1347-19_1347-17del
|
|
|
|
NM_001386795.1(DTNA):c.1347-6T>C
|
|
|
|
NM_001386795.1(DTNA):c.1428T>C (p.Ser476=)
|
rs2149870918
|
|
|
NM_001386795.1(DTNA):c.1532+18T>A
|
|
|
|
NM_001386795.1(DTNA):c.1532+7C>T
|
|
|
|
NM_001386795.1(DTNA):c.153C>T (p.His51=)
|
rs756884885
|
|
|
NM_001386795.1(DTNA):c.1560T>C (p.Leu520=)
|
|
|
|
NM_001386795.1(DTNA):c.1566A>G (p.Leu522=)
|
|
|
|
NM_001386795.1(DTNA):c.1572T>C (p.His524=)
|
|
|
|
NM_001386795.1(DTNA):c.15T>C (p.Ser5=)
|
rs964404879
|
|
|
NM_001386795.1(DTNA):c.1646+11G>C
|
|
|
|
NM_001386795.1(DTNA):c.1646+13A>G
|
|
|
|
NM_001386795.1(DTNA):c.1646+17A>T
|
rs376948940
|
|
|
NM_001386795.1(DTNA):c.1646+18T>C
|
|
|
|
NM_001386795.1(DTNA):c.1647-16G>T
|
rs2150150416
|
|
|
NM_001386795.1(DTNA):c.1671G>A (p.Gln557=)
|
|
|
|
NM_001386795.1(DTNA):c.1740A>G (p.Leu580=)
|
|
|
|
NM_001386795.1(DTNA):c.1743+14_1743+15delinsAT
|
rs2150151636
|
|
|
NM_001386795.1(DTNA):c.1743+17A>G
|
|
|
|
NM_001386795.1(DTNA):c.1744-19A>G
|
|
|
|
NM_001386795.1(DTNA):c.1746T>C (p.Thr582=)
|
|
|
|
NM_001386795.1(DTNA):c.1770C>A (p.Ser590=)
|
rs570093404
|
|
|
NM_001386795.1(DTNA):c.1770C>T (p.Ser590=)
|
|
|
|
NM_001386795.1(DTNA):c.1776C>A (p.Pro592=)
|
|
|
|
NM_001386795.1(DTNA):c.1776C>G (p.Pro592=)
|
|
|
|
NM_001386795.1(DTNA):c.1821G>C (p.Ala607=)
|
rs9959365
|
|
|
NM_001386795.1(DTNA):c.1821G>T (p.Ala607=)
|
rs9959365
|
|
|
NM_001386795.1(DTNA):c.1836C>T (p.Thr612=)
|
|
|
|
NM_001386795.1(DTNA):c.187C>A (p.Arg63=)
|
rs773407468
|
|
|
NM_001386795.1(DTNA):c.1904-17T>C
|
|
|
|
NM_001386795.1(DTNA):c.1904-8C>G
|
|
|
|
NM_001386795.1(DTNA):c.1968C>T (p.Ser656=)
|
|
|
|
NM_001386795.1(DTNA):c.1971T>A (p.Ser657=)
|
|
|
|
NM_001386795.1(DTNA):c.1994-5G>A
|
|
|
|
NM_001386795.1(DTNA):c.2001G>A (p.Gly667=)
|
|
|
|
NM_001386795.1(DTNA):c.2093C>T (p.Ala698Val)
|
rs747872788
|
|
|
NM_001386795.1(DTNA):c.2118G>A (p.Gly706=)
|
rs2150373256
|
|
|
NM_001386795.1(DTNA):c.2163-17C>T
|
rs2150404797
|
|
|
NM_001386795.1(DTNA):c.2262C>T (p.Tyr754=)
|
|
|
|
NM_001386795.1(DTNA):c.2280A>G (p.Gln760=)
|
|
|
|
NM_001386795.1(DTNA):c.2295+10T>C
|
rs376012937
|
|
|
NM_001386795.1(DTNA):c.2310T>C (p.Gly770=)
|
|
|
|
NM_001386795.1(DTNA):c.255C>A (p.Leu85=)
|
|
|
|
NM_001386795.1(DTNA):c.261T>C (p.Thr87=)
|
|
|
|
NM_001386795.1(DTNA):c.267T>C (p.Phe89=)
|
rs2149041135
|
|
|
NM_001386795.1(DTNA):c.333C>T (p.Leu111=)
|
rs2149041765
|
|
|
NM_001386795.1(DTNA):c.362+14del
|
rs2149042288
|
|
|
NM_001386795.1(DTNA):c.362+7A>G
|
|
|
|
NM_001386795.1(DTNA):c.363-12_363-8del
|
rs2149252560
|
|
|
NM_001386795.1(DTNA):c.363-17C>A
|
rs578249361
|
|
|
NM_001386795.1(DTNA):c.363-9A>G
|
rs886053771
|
|
|
NM_001386795.1(DTNA):c.372T>C (p.His124=)
|
|
|
|
NM_001386795.1(DTNA):c.381T>A (p.Ile127=)
|
rs958850248
|
|
|
NM_001386795.1(DTNA):c.448+17del
|
rs754687179
|
|
|
NM_001386795.1(DTNA):c.48A>G (p.Arg16=)
|
rs2148227417
|
|
|
NM_001386795.1(DTNA):c.504C>T (p.Asp168=)
|
rs1602476332
|
|
|
NM_001386795.1(DTNA):c.507A>G (p.Gln169=)
|
|
|
|
NM_001386795.1(DTNA):c.529C>T (p.Leu177=)
|
|
|
|
NM_001386795.1(DTNA):c.537G>A (p.Thr179=)
|
rs11877640
|
|
|
NM_001386795.1(DTNA):c.552T>G (p.Gly184=)
|
|
|
|
NM_001386795.1(DTNA):c.558A>T (p.Ser186=)
|
|
|
|
NM_001386795.1(DTNA):c.603+7G>C
|
rs1602477433
|
|
|
NM_001386795.1(DTNA):c.604-16G>A
|
|
|
|
NM_001386795.1(DTNA):c.654C>A (p.Pro218=)
|
rs1478981280
|
|
|
NM_001386795.1(DTNA):c.67+7A>G
|
|
|
|
NM_001386795.1(DTNA):c.67+8T>C
|
rs979990151
|
|
|
NM_001386795.1(DTNA):c.68-10C>T
|
|
|
|
NM_001386795.1(DTNA):c.68-6C>T
|
|
|
|
NM_001386795.1(DTNA):c.684G>T (p.Leu228=)
|
|
|
|
NM_001386795.1(DTNA):c.709+20C>T
|
|
|
|
NM_001386795.1(DTNA):c.709+8G>C
|
|
|
|
NM_001386795.1(DTNA):c.710-11T>G
|
|
|
|
NM_001386795.1(DTNA):c.710-4T>G
|
rs2149411883
|
|
|
NM_001386795.1(DTNA):c.750T>C (p.Ser250=)
|
rs758308153
|
|
|
NM_001386795.1(DTNA):c.780G>A (p.Gln260=)
|
|
|
|
NM_001386795.1(DTNA):c.78T>C (p.Asp26=)
|
|
|
|
NM_001386795.1(DTNA):c.79C>T (p.Leu27=)
|
|
|
|
NM_001386795.1(DTNA):c.813C>T (p.Phe271=)
|
|
|
|
NM_001386795.1(DTNA):c.828C>T (p.Ala276=)
|
rs756146461
|
|
|
NM_001386795.1(DTNA):c.877-16T>G
|
rs2095695411
|
|
|
NM_001386795.1(DTNA):c.877-6T>C
|
rs1555830507
|
|
|
NM_001386795.1(DTNA):c.906A>C (p.Ala302=)
|
rs1060504938
|
|
|
NM_001386795.1(DTNA):c.921G>A (p.Leu307=)
|
|
|
|
NM_001458.5(FLNC):c.1000C>A (p.Arg334Ser)
|
rs372497581
|
|
|
NM_001458.5(FLNC):c.1000C>T (p.Arg334Cys)
|
rs372497581
|
|
|
NM_001458.5(FLNC):c.1014C>T (p.Val338=)
|
|
|
|
NM_001458.5(FLNC):c.1023G>T (p.Val341=)
|
|
|
|
NM_001458.5(FLNC):c.1026C>A (p.Pro342=)
|
|
|
|
NM_001458.5(FLNC):c.1035T>C (p.Ala345=)
|
rs2128934337
|
|
|
NM_001458.5(FLNC):c.1047+11C>G
|
|
|
|
NM_001458.5(FLNC):c.1047+12T>C
|
|
|
|
NM_001458.5(FLNC):c.1047+16C>G
|
rs961893897
|
|
|
NM_001458.5(FLNC):c.1047+16C>T
|
|
|
|
NM_001458.5(FLNC):c.1047+17C>A
|
rs1477732116
|
|
|
NM_001458.5(FLNC):c.1047+17C>T
|
rs1477732116
|
|
|
NM_001458.5(FLNC):c.1047+19C>G
|
|
|
|
NM_001458.5(FLNC):c.1047+20C>A
|
|
|
|
NM_001458.5(FLNC):c.1047+8C>T
|
|
|
|
NM_001458.5(FLNC):c.1047+9C>G
|
|
|
|
NM_001458.5(FLNC):c.1047+9C>T
|
|
|
|
NM_001458.5(FLNC):c.1048-9G>T
|
rs897884333
|
|
|
NM_001458.5(FLNC):c.1059C>T (p.Leu353=)
|
rs760418462
|
|
|
NM_001458.5(FLNC):c.108G>A (p.Lys36=)
|
rs1807852313
|
|
|
NM_001458.5(FLNC):c.1104G>C (p.Val368=)
|
|
|
|
NM_001458.5(FLNC):c.1116G>T (p.Leu372=)
|
|
|
|
NM_001458.5(FLNC):c.1123G>A (p.Ala375Thr)
|
rs747623981
|
|
|
NM_001458.5(FLNC):c.1161T>G (p.Pro387=)
|
|
|
|
NM_001458.5(FLNC):c.1177A>C (p.Asn393His)
|
|
|
|
NM_001458.5(FLNC):c.1179C>T (p.Asn393=)
|
rs547934558
|
|
|
NM_001458.5(FLNC):c.1182A>G (p.Lys394=)
|
rs2128934426
|
|
|
NM_001458.5(FLNC):c.1185C>T (p.Pro395=)
|
|
|
|
NM_001458.5(FLNC):c.1188C>A (p.Thr396=)
|
rs1585153728
|
|
|
NM_001458.5(FLNC):c.1206T>A (p.Thr402=)
|
rs757898362
|
|
|
NM_001458.5(FLNC):c.1206T>G (p.Thr402=)
|
rs757898362
|
|
|
NM_001458.5(FLNC):c.1210+15A>G
|
rs763122529
|
|
|
NM_001458.5(FLNC):c.1210+16G>A
|
|
|
|
NM_001458.5(FLNC):c.1210+20G>A
|
|
|
|
NM_001458.5(FLNC):c.1210+7C>T
|
rs776554557
|
|
|
NM_001458.5(FLNC):c.1211-10T>C
|
|
|
|
NM_001458.5(FLNC):c.1211-11G>C
|
rs2128934481
|
|
|
NM_001458.5(FLNC):c.1211-13_1211-12del
|
|
|
|
NM_001458.5(FLNC):c.1211-4G>T
|
rs779760488
|
|
|
NM_001458.5(FLNC):c.1233T>C (p.Ala411=)
|
rs1035589817
|
|
|
NM_001458.5(FLNC):c.1245G>A (p.Val415=)
|
|
|
|
NM_001458.5(FLNC):c.1269A>C (p.Thr423=)
|
rs1808205111
|
|
|
NM_001458.5(FLNC):c.1272G>A (p.Val424=)
|
|
|
|
NM_001458.5(FLNC):c.1275G>A (p.Glu425=)
|
|
|
|
NM_001458.5(FLNC):c.1281C>T (p.Ala427=)
|
rs1055109116
|
|
|
NM_001458.5(FLNC):c.1293G>A (p.Lys431=)
|
rs1808206047
|
|
|
NM_001458.5(FLNC):c.129G>A (p.Thr43=)
|
|
|
|
NM_001458.5(FLNC):c.1310G>T (p.Arg437Leu)
|
rs370138936
|
|
|
NM_001458.5(FLNC):c.1311C>T (p.Arg437=)
|
rs2128934522
|
|
|
NM_001458.5(FLNC):c.1338G>A (p.Gly446=)
|
rs2128934526
|
|
|
NM_001458.5(FLNC):c.1341A>C (p.Pro447=)
|
|
|
|
NM_001458.5(FLNC):c.1341A>G (p.Pro447=)
|
rs2128934528
|
|
|
NM_001458.5(FLNC):c.1350G>T (p.Val450=)
|
rs2128934535
|
|
|
NM_001458.5(FLNC):c.1383C>T (p.Arg461=)
|
rs1562992883
|
|
|
NM_001458.5(FLNC):c.1411+10C>G
|
rs2128934548
|
|
|
NM_001458.5(FLNC):c.1411+14A>C
|
|
|
|
NM_001458.5(FLNC):c.1411+16T>A
|
|
|
|
NM_001458.5(FLNC):c.1411+17G>C
|
|
|
|
NM_001458.5(FLNC):c.1411+17G>T
|
rs954461668
|
|
|
NM_001458.5(FLNC):c.1411+8C>T
|
|
|
|
NM_001458.5(FLNC):c.1411+9C>G
|
|
|
|
NM_001458.5(FLNC):c.1411+9C>T
|
|
|
|
NM_001458.5(FLNC):c.1412-15C>G
|
|
|
|
NM_001458.5(FLNC):c.1412-4C>G
|
|
|
|
NM_001458.5(FLNC):c.1412-6C>T
|
rs753700851
|
|
|
NM_001458.5(FLNC):c.1412-8T>G
|
rs1585155030
|
|
|
NM_001458.5(FLNC):c.1428C>T (p.Ala476=)
|
rs1585155086
|
|
|
NM_001458.5(FLNC):c.1449C>G (p.Gly483=)
|
|
|
|
NM_001458.5(FLNC):c.1470C>A (p.Arg490=)
|
rs765212618
|
|
|
NM_001458.5(FLNC):c.1485T>C (p.Ala495=)
|
|
|
|
NM_001458.5(FLNC):c.1491C>T (p.Phe497=)
|
rs1199428558
|
|
|
NM_001458.5(FLNC):c.1503C>T (p.Thr501=)
|
|
|
|
NM_001458.5(FLNC):c.1512C>T (p.Ala504=)
|
|
|
|
NM_001458.5(FLNC):c.1530G>A (p.Lys510=)
|
|
|
|
NM_001458.5(FLNC):c.1533C>T (p.Val511=)
|
rs2128934896
|
|
|
NM_001458.5(FLNC):c.1536G>C (p.Thr512=)
|
rs1335788654
|
|
|
NM_001458.5(FLNC):c.1539C>G (p.Val513=)
|
rs2128934900
|
|
|
NM_001458.5(FLNC):c.153G>A (p.Lys51=)
|
|
|
|
NM_001458.5(FLNC):c.1545G>A (p.Gly515=)
|
|
|
|
NM_001458.5(FLNC):c.1545G>T (p.Gly515=)
|
|
|
|
NM_001458.5(FLNC):c.1549+17A>G
|
|
|
|
NM_001458.5(FLNC):c.1549+20G>A
|
|
|
|
NM_001458.5(FLNC):c.1549+7G>A
|
|
|
|
NM_001458.5(FLNC):c.1549+8C>T
|
|
|
|
NM_001458.5(FLNC):c.1550-11C>A
|
|
|
|
NM_001458.5(FLNC):c.1550-13C>G
|
|
|
|
NM_001458.5(FLNC):c.1550-15C>T
|
|
|
|
NM_001458.5(FLNC):c.1550-16G>T
|
|
|
|
NM_001458.5(FLNC):c.1550-18C>A
|
rs1453268797
|
|
|
NM_001458.5(FLNC):c.1550-18C>G
|
|
|
|
NM_001458.5(FLNC):c.1550-8C>A
|
|
|
|
NM_001458.5(FLNC):c.1563G>A (p.Glu521=)
|
|
|
|
NM_001458.5(FLNC):c.1581G>A (p.Glu527=)
|
rs267601277
|
|
|
NM_001458.5(FLNC):c.1584T>C (p.Ala528=)
|
rs1585155668
|
|
|
NM_001458.5(FLNC):c.1584T>G (p.Ala528=)
|
|
|
|
NM_001458.5(FLNC):c.1593T>G (p.Gly531=)
|
|
|
|
NM_001458.5(FLNC):c.1617G>C (p.Pro539=)
|
rs369222964
|
|
|
NM_001458.5(FLNC):c.1620G>A (p.Val540=)
|
rs2128935043
|
|
|
NM_001458.5(FLNC):c.1644C>G (p.Thr548=)
|
|
|
|
NM_001458.5(FLNC):c.1650G>A (p.Thr550=)
|
rs754474889
|
|
|
NM_001458.5(FLNC):c.1656C>T (p.Gly552=)
|
rs1585155760
|
|
|
NM_001458.5(FLNC):c.1672C>G (p.Arg558Gly)
|
|
|
|
NM_001458.5(FLNC):c.1673G>A (p.Arg558His)
|
rs776881635
|
|
|
NM_001458.5(FLNC):c.1673G>T (p.Arg558Leu)
|
rs776881635
|
|
|
NM_001458.5(FLNC):c.1676+14G>A
|
|
|
|
NM_001458.5(FLNC):c.1676+14G>T
|
rs775501421
|
|
|
NM_001458.5(FLNC):c.1676+16C>T
|
rs764636531
|
|
|
NM_001458.5(FLNC):c.1676+20C>T
|
|
|
|
NM_001458.5(FLNC):c.1676+9C>G
|
|
|
|
NM_001458.5(FLNC):c.1676+9C>T
|
rs568005957
|
|
|
NM_001458.5(FLNC):c.1677-12C>A
|
|
|
|
NM_001458.5(FLNC):c.1677-12C>G
|
|
|
|
NM_001458.5(FLNC):c.1677-14C>A
|
|
|
|
NM_001458.5(FLNC):c.1677-16C>A
|
|
|
|
NM_001458.5(FLNC):c.168C>T (p.Arg56=)
|
|
|
|
NM_001458.5(FLNC):c.1695G>A (p.Val565=)
|
rs982956977
|
|
|
NM_001458.5(FLNC):c.1710A>T (p.Gly570=)
|
|
|
|
NM_001458.5(FLNC):c.1713G>C (p.Val571=)
|
|
|
|
NM_001458.5(FLNC):c.1716A>G (p.Gln572=)
|
|
|
|
NM_001458.5(FLNC):c.1728C>A (p.Ala576=)
|
rs370464621
|
|
|
NM_001458.5(FLNC):c.174C>A (p.Thr58=)
|
rs763488290
|
|
|
NM_001458.5(FLNC):c.1758G>A (p.Val586=)
|
|
|
|
NM_001458.5(FLNC):c.1800G>A (p.Glu600=)
|
rs775105479
|
|
|
NM_001458.5(FLNC):c.1810C>T (p.Leu604=)
|
rs1554398303
|
|
|
NM_001458.5(FLNC):c.1813+16G>A
|
|
|
|
NM_001458.5(FLNC):c.1813+18AGG[2]
|
|
|
|
NM_001458.5(FLNC):c.1813+9C>A
|
|
|
|
NM_001458.5(FLNC):c.1814-11C>T
|
|
|
|
NM_001458.5(FLNC):c.1814-12A>G
|
|
|
|
NM_001458.5(FLNC):c.1814-13C>T
|
rs766268709
|
|
|
NM_001458.5(FLNC):c.1814-14C>T
|
|
|
|
NM_001458.5(FLNC):c.1814-15C>G
|
|
|
|
NM_001458.5(FLNC):c.1814-4C>G
|
|
|
|
NM_001458.5(FLNC):c.1814-6C>G
|
|
|
|
NM_001458.5(FLNC):c.1814-7G>A
|
rs2128935218
|
|
|
NM_001458.5(FLNC):c.1815C>T (p.Gly605=)
|
rs2128935228
|
|
|
NM_001458.5(FLNC):c.1824C>T (p.Ile608=)
|
|
|
|
NM_001458.5(FLNC):c.1830G>C (p.Gly610=)
|
rs747467683
|
|
|
NM_001458.5(FLNC):c.1848C>A (p.Ile616=)
|
|
|
|
NM_001458.5(FLNC):c.1866G>A (p.Gly622=)
|
rs2128935248
|
|
|
NM_001458.5(FLNC):c.1872C>T (p.Gly624=)
|
rs2128935252
|
|
|
NM_001458.5(FLNC):c.1881T>C (p.Asp627=)
|
rs2128935255
|
|
|
NM_001458.5(FLNC):c.1890C>T (p.Tyr630=)
|
|
|
|
NM_001458.5(FLNC):c.1896C>T (p.Pro632=)
|
rs1013540977
|
|
|
NM_001458.5(FLNC):c.1908G>A (p.Gly636=)
|
rs2128935267
|
|
|
NM_001458.5(FLNC):c.1914C>T (p.Tyr638=)
|
|
|
|
NM_001458.5(FLNC):c.1917T>G (p.Ala639=)
|
rs781632907
|
|
|
NM_001458.5(FLNC):c.1935C>T (p.Asp645=)
|
|
|
|
NM_001458.5(FLNC):c.1938T>A (p.Asp646Glu)
|
rs1347868577
|
|
|
NM_001458.5(FLNC):c.1962C>T (p.Phe654=)
|
rs1585156448
|
|
|
NM_001458.5(FLNC):c.2007+10C>T
|
rs2128935294
|
|
|
NM_001458.5(FLNC):c.2007+12G>A
|
|
|
|
NM_001458.5(FLNC):c.2007+17C>T
|
|
|
|
NM_001458.5(FLNC):c.2007+18_2007+23del
|
rs1808326543
|
|
|
NM_001458.5(FLNC):c.2008-10C>T
|
rs2128935323
|
|
|
NM_001458.5(FLNC):c.2008-10dup
|
|
|
|
NM_001458.5(FLNC):c.2008-11C>T
|
|
|
|
NM_001458.5(FLNC):c.2008-18C>A
|
rs763833533
|
|
|
NM_001458.5(FLNC):c.2008-5C>T
|
rs2128935333
|
|
|
NM_001458.5(FLNC):c.2008-5del
|
rs2128935334
|
|
|
NM_001458.5(FLNC):c.2008-6G>A
|
rs577813339
|
|
|
NM_001458.5(FLNC):c.2008-6G>T
|
rs577813339
|
|
|
NM_001458.5(FLNC):c.2008-9T>C
|
rs2128935326
|
|
|
NM_001458.5(FLNC):c.2022G>A (p.Gly674=)
|
rs1359520022
|
|
|
NM_001458.5(FLNC):c.2029C>T (p.Leu677=)
|
rs754331955
|
|
|
NM_001458.5(FLNC):c.2049C>T (p.Ile683=)
|
|
|
|
NM_001458.5(FLNC):c.2061C>A (p.Pro687=)
|
rs545269561
|
|
|
NM_001458.5(FLNC):c.2062G>A (p.Ala688Thr)
|
rs774194364
|
|
|
NM_001458.5(FLNC):c.2073C>T (p.Thr691=)
|
rs2128935360
|
|
|
NM_001458.5(FLNC):c.2084G>A (p.Arg695His)
|
rs766592492
|
|
|
NM_001458.5(FLNC):c.2084G>C (p.Arg695Pro)
|
rs766592492
|
|
|
NM_001458.5(FLNC):c.2106G>A (p.Leu702=)
|
|
|
|
NM_001458.5(FLNC):c.210C>G (p.Leu70=)
|
rs777794633
|
|
|
NM_001458.5(FLNC):c.210C>T (p.Leu70=)
|
|
|
|
NM_001458.5(FLNC):c.2121+10T>C
|
rs527417498
|
|
|
NM_001458.5(FLNC):c.2121+9T>C
|
rs2128935382
|
|
|
NM_001458.5(FLNC):c.2122-18C>T
|
|
|
|
NM_001458.5(FLNC):c.2122-19G>A
|
|
|
|
NM_001458.5(FLNC):c.2122-9T>C
|
rs369054931
|
|
|
NM_001458.5(FLNC):c.213C>T (p.Ile71=)
|
rs2128932186
|
|
|
NM_001458.5(FLNC):c.2140A>G (p.Ile714Val)
|
|
|
|
NM_001458.5(FLNC):c.2142C>A (p.Ile714=)
|
rs199595235
|
|
|
NM_001458.5(FLNC):c.2142C>T (p.Ile714=)
|
rs199595235
|
|
|
NM_001458.5(FLNC):c.2145C>T (p.Asp715=)
|
rs1585157201
|
|
|
NM_001458.5(FLNC):c.2151G>A (p.Lys717=)
|
|
|
|
NM_001458.5(FLNC):c.2157C>A (p.Ile719=)
|
|
|
|
NM_001458.5(FLNC):c.2160C>T (p.Pro720=)
|
rs1389842402
|
|
|
NM_001458.5(FLNC):c.2163C>T (p.Asn721=)
|
rs370539335
|
|
|
NM_001458.5(FLNC):c.2166C>T (p.Gly722=)
|
rs1808364808
|
|
|
NM_001458.5(FLNC):c.2167G>A (p.Asp723Asn)
|
rs375414341
|
|
|
NM_001458.5(FLNC):c.216G>A (p.Ala72=)
|
rs757077955
|
|
|
NM_001458.5(FLNC):c.2178C>T (p.Phe726=)
|
|
|
|
NM_001458.5(FLNC):c.2181C>T (p.Arg727=)
|
|
|
|
NM_001458.5(FLNC):c.2199C>T (p.Thr733=)
|
rs200655185
|
|
|
NM_001458.5(FLNC):c.21C>T (p.Tyr7=)
|
rs201179596
|
|
|
NM_001458.5(FLNC):c.2250C>A (p.Pro750=)
|
|
|
|
NM_001458.5(FLNC):c.2253G>A (p.Lys751=)
|
|
|
|
NM_001458.5(FLNC):c.2265+10C>A
|
|
|
|
NM_001458.5(FLNC):c.2265+12C>T
|
rs2291566
|
|
|
NM_001458.5(FLNC):c.2265+13G>A
|
|
|
|
NM_001458.5(FLNC):c.2265+18G>A
|
|
|
|
NM_001458.5(FLNC):c.2265+18_2265+20del
|
|
|
|
NM_001458.5(FLNC):c.2265+19C>G
|
|
|
|
NM_001458.5(FLNC):c.2266-15C>T
|
|
|
|
NM_001458.5(FLNC):c.2266-4G>T
|
|
|
|
NM_001458.5(FLNC):c.2296C>A (p.Arg766=)
|
|
|
|
NM_001458.5(FLNC):c.2316C>G (p.Pro772=)
|
rs377595203
|
|
|
NM_001458.5(FLNC):c.231C>T (p.Leu77=)
|
|
|
|
NM_001458.5(FLNC):c.2322G>A (p.Val774=)
|
rs2128935682
|
|
|
NM_001458.5(FLNC):c.2331A>G (p.Thr777=)
|
rs1585157630
|
|
|
NM_001458.5(FLNC):c.2346T>C (p.Asn782=)
|
|
|
|
NM_001458.5(FLNC):c.2364G>C (p.Thr788=)
|
|
|
|
NM_001458.5(FLNC):c.2382G>C (p.Ala794=)
|
rs536456072
|
|
|
NM_001458.5(FLNC):c.2389+17G>A
|
|
|
|
NM_001458.5(FLNC):c.2390-13C>G
|
rs78086167
|
|
|
NM_001458.5(FLNC):c.2390-16G>A
|
|
|
|
NM_001458.5(FLNC):c.2390-18G>C
|
|
|
|
NM_001458.5(FLNC):c.2390-6C>T
|
rs1585157852
|
|
|
NM_001458.5(FLNC):c.2391C>A (p.Gly797=)
|
rs374768092
|
|
|
NM_001458.5(FLNC):c.2391C>T (p.Gly797=)
|
rs374768092
|
|
|
NM_001458.5(FLNC):c.2394C>A (p.Asp798Glu)
|
|
|
|
NM_001458.5(FLNC):c.2403C>A (p.Ile801=)
|
rs369234137
|
|
|
NM_001458.5(FLNC):c.2412G>A (p.Lys804=)
|
|
|
|
NM_001458.5(FLNC):c.2427G>A (p.Val809=)
|
|
|
|
NM_001458.5(FLNC):c.2433C>A (p.Gly811=)
|
|
|
|
NM_001458.5(FLNC):c.2454C>T (p.Asp818=)
|
rs2128935767
|
|
|
NM_001458.5(FLNC):c.2460C>T (p.Asp820=)
|
|
|
|
NM_001458.5(FLNC):c.2463C>A (p.Ile821=)
|
|
|
|
NM_001458.5(FLNC):c.2469G>A (p.Lys823=)
|
|
|
|
NM_001458.5(FLNC):c.2499C>T (p.Tyr833=)
|
|
|
|
NM_001458.5(FLNC):c.2508A>G (p.Pro836=)
|
|
|
|
NM_001458.5(FLNC):c.2526C>A (p.Thr842=)
|
|
|
|
NM_001458.5(FLNC):c.2526C>T (p.Thr842=)
|
rs750927692
|
|
|
NM_001458.5(FLNC):c.2538G>A (p.Leu846=)
|
rs766913091
|
|
|
NM_001458.5(FLNC):c.2538G>T (p.Leu846=)
|
|
|
|
NM_001458.5(FLNC):c.2541T>C (p.Phe847=)
|
|
|
|
NM_001458.5(FLNC):c.2546A>T (p.Asn849Ile)
|
rs755425307
|
|
|
NM_001458.5(FLNC):c.2550+10C>A
|
|
|
|
NM_001458.5(FLNC):c.2550+10C>T
|
rs2128935820
|
|
|
NM_001458.5(FLNC):c.2550+14T>A
|
|
|
|
NM_001458.5(FLNC):c.2550+15_2550+18del
|
|
|
|
NM_001458.5(FLNC):c.2550+16G>C
|
|
|
|
NM_001458.5(FLNC):c.2550+17G>A
|
|
|
|
NM_001458.5(FLNC):c.2550+18T>C
|
|
|
|
NM_001458.5(FLNC):c.2551-18A>G
|
|
|
|
NM_001458.5(FLNC):c.2551-7C>T
|
|
|
|
NM_001458.5(FLNC):c.2559C>T (p.Pro853=)
|
rs977635757
|
|
|
NM_001458.5(FLNC):c.258C>T (p.Phe86=)
|
|
|
|
NM_001458.5(FLNC):c.2600C>T (p.Ala867Val)
|
rs1352861184
|
|
|
NM_001458.5(FLNC):c.2604C>T (p.Ser868=)
|
|
|
|
NM_001458.5(FLNC):c.2610C>G (p.Val870=)
|
rs2128935926
|
|
|
NM_001458.5(FLNC):c.2614G>T (p.Ala872Ser)
|
|
|
|
NM_001458.5(FLNC):c.2616C>G (p.Ala872=)
|
rs769947935
|
|
|
NM_001458.5(FLNC):c.2616C>T (p.Ala872=)
|
rs769947935
|
|
|
NM_001458.5(FLNC):c.261T>C (p.His87=)
|
|
|
|
NM_001458.5(FLNC):c.2622C>T (p.Gly874=)
|
rs777267184
|
|
|
NM_001458.5(FLNC):c.2631G>C (p.Leu877=)
|
rs2128935938
|
|
|
NM_001458.5(FLNC):c.2641+8_2641+11del
|
rs1808418675
|
|
|
NM_001458.5(FLNC):c.2641+9C>A
|
|
|
|
NM_001458.5(FLNC):c.2642-8G>T
|
rs2128935975
|
|
|
NM_001458.5(FLNC):c.2652C>G (p.Val884=)
|
rs369714355
|
|
|
NM_001458.5(FLNC):c.2652C>T (p.Val884=)
|
rs369714355
|
|
|
NM_001458.5(FLNC):c.2658G>A (p.Lys886=)
|
rs2128935981
|
|
|
NM_001458.5(FLNC):c.2664C>T (p.Thr888=)
|
|
|
|
NM_001458.5(FLNC):c.2670C>T (p.Phe890=)
|
|
|
|
NM_001458.5(FLNC):c.267C>T (p.Arg89=)
|
rs768740257
|
|
|
NM_001458.5(FLNC):c.2691C>A (p.Ala897=)
|
|
|
|
NM_001458.5(FLNC):c.2700C>T (p.Ala900=)
|
|
|
|
NM_001458.5(FLNC):c.2706G>A (p.Leu902=)
|
|
|
|
NM_001458.5(FLNC):c.2724G>C (p.Gly908=)
|
rs1808426712
|
|
|
NM_001458.5(FLNC):c.2730C>G (p.Ala910=)
|
rs1585158635
|
|
|
NM_001458.5(FLNC):c.2745G>C (p.Val915=)
|
|
|
|
NM_001458.5(FLNC):c.2769C>T (p.Asn923=)
|
rs2128936016
|
|
|
NM_001458.5(FLNC):c.2772T>C (p.His924=)
|
rs1326134089
|
|
|
NM_001458.5(FLNC):c.2774A>T (p.Asp925Val)
|
|
|
|
NM_001458.5(FLNC):c.2790C>G (p.Val930=)
|
|
|
|
NM_001458.5(FLNC):c.2811+15T>C
|
|
|
|
NM_001458.5(FLNC):c.2811+20T>A
|
|
|
|
NM_001458.5(FLNC):c.2811+20T>C
|
|
|
|
NM_001458.5(FLNC):c.2811+8C>A
|
|
|
|
NM_001458.5(FLNC):c.2812-12T>G
|
|
|
|
NM_001458.5(FLNC):c.2812-13T>C
|
|
|
|
NM_001458.5(FLNC):c.2812-15del
|
|
|
|
NM_001458.5(FLNC):c.2812-16C>A
|
rs754582909
|
|
|
NM_001458.5(FLNC):c.2812-20C>T
|
|
|
|
NM_001458.5(FLNC):c.2812-8C>T
|
|
|
|
NM_001458.5(FLNC):c.2832G>T (p.Val944=)
|
|
|
|
NM_001458.5(FLNC):c.2844G>A (p.Gly948=)
|
|
|
|
NM_001458.5(FLNC):c.2845G>A (p.Asp949Asn)
|
rs761905908
|
|
|
NM_001458.5(FLNC):c.2856C>T (p.Pro952=)
|
rs2128936094
|
|
|
NM_001458.5(FLNC):c.2859G>A (p.Lys953=)
|
|
|
|
NM_001458.5(FLNC):c.2862C>T (p.Ser954=)
|
rs766581831
|
|
|
NM_001458.5(FLNC):c.2874G>C (p.Val958=)
|
rs754046100
|
|
|
NM_001458.5(FLNC):c.288G>A (p.Lys96=)
|
rs2128932227
|
|
|
NM_001458.5(FLNC):c.2898C>T (p.Leu966=)
|
|
|
|
NM_001458.5(FLNC):c.289C>T (p.Leu97=)
|
|
|
|
NM_001458.5(FLNC):c.2916G>A (p.Gln972=)
|
rs2128936110
|
|
|
NM_001458.5(FLNC):c.2919C>T (p.Gly973=)
|
|
|
|
NM_001458.5(FLNC):c.2929+10G>T
|
rs747678158
|
|
|
NM_001458.5(FLNC):c.2929+16G>C
|
|
|
|
NM_001458.5(FLNC):c.2929+18C>T
|
|
|
|
NM_001458.5(FLNC):c.2929+20C>A
|
|
|
|
NM_001458.5(FLNC):c.2929+9G>T
|
rs1585159046
|
|
|
NM_001458.5(FLNC):c.2930-10C>T
|
rs2128936139
|
|
|
NM_001458.5(FLNC):c.2930-7C>A
|
rs1324607570
|
|
|
NM_001458.5(FLNC):c.2930-7C>T
|
|
|
|
NM_001458.5(FLNC):c.2930-9_2930-7dup
|
|
|
|
NM_001458.5(FLNC):c.2935G>A (p.Ala979Thr)
|
|
|
|
NM_001458.5(FLNC):c.2943A>G (p.Gly981=)
|
rs759397444
|
|
|
NM_001458.5(FLNC):c.2946G>A (p.Gln982=)
|
|
|
|
NM_001458.5(FLNC):c.2958C>T (p.Phe986=)
|
|
|
|
NM_001458.5(FLNC):c.2961T>C (p.Ser987=)
|
rs2128936155
|
|
|
NM_001458.5(FLNC):c.2964G>A (p.Val988=)
|
|
|
|
NM_001458.5(FLNC):c.2967C>T (p.Asn989=)
|
rs775727204
|
|
|
NM_001458.5(FLNC):c.2971C>A (p.Arg991=)
|
rs886037830
|
|
|
NM_001458.5(FLNC):c.2982C>G (p.Gly994=)
|
rs947174901
|
|
|
NM_001458.5(FLNC):c.2991C>T (p.Gly997=)
|
|
|
|
NM_001458.5(FLNC):c.3006G>C (p.Arg1002=)
|
rs61737781
|
|
|
NM_001458.5(FLNC):c.3023G>A (p.Arg1008His)
|
rs777492254
|
|
|
NM_001458.5(FLNC):c.3025C>T (p.Arg1009Trp)
|
|
|
|
NM_001458.5(FLNC):c.3033C>T (p.Ile1011=)
|
rs757092972
|
|
|
NM_001458.5(FLNC):c.3054C>A (p.Gly1018=)
|
rs769624093
|
|
|
NM_001458.5(FLNC):c.3055G>A (p.Gly1019Ser)
|
rs200864007
|
|
|
NM_001458.5(FLNC):c.3055G>T (p.Gly1019Cys)
|
rs200864007
|
|
|
NM_001458.5(FLNC):c.3057T>C (p.Gly1019=)
|
rs2128936183
|
|
|
NM_001458.5(FLNC):c.306G>A (p.Val102=)
|
|
|
|
NM_001458.5(FLNC):c.3081C>A (p.Arg1027=)
|
rs1554399030
|
|
|
NM_001458.5(FLNC):c.3092C>A (p.Pro1031Gln)
|
rs372467579
|
|
|
NM_001458.5(FLNC):c.3092C>T (p.Pro1031Leu)
|
rs372467579
|
|
|
NM_001458.5(FLNC):c.3099G>A (p.Glu1033=)
|
|
|
|
NM_001458.5(FLNC):c.3111G>A (p.Lys1037=)
|
rs1808458398
|
|
|
NM_001458.5(FLNC):c.3114G>A (p.Val1038=)
|
rs376516180
|
|
|
NM_001458.5(FLNC):c.3122C>G (p.Thr1041Ser)
|
|
|
|
NM_001458.5(FLNC):c.3129T>C (p.Asp1043=)
|
rs1160980989
|
|
|
NM_001458.5(FLNC):c.3135C>T (p.His1045=)
|
rs988307328
|
|
|
NM_001458.5(FLNC):c.3138G>C (p.Pro1046=)
|
|
|
|
NM_001458.5(FLNC):c.3141G>C (p.Val1047=)
|
rs1554399057
|
|
|
NM_001458.5(FLNC):c.3153G>T (p.Pro1051=)
|
rs373694043
|
|
|
NM_001458.5(FLNC):c.3171C>G (p.Val1057=)
|
|
|
|
NM_001458.5(FLNC):c.3177C>T (p.Pro1059=)
|
|
|
|
NM_001458.5(FLNC):c.3192+16C>T
|
|
|
|
NM_001458.5(FLNC):c.3192+17T>C
|
rs2128936246
|
|
|
NM_001458.5(FLNC):c.3192+19G>A
|
rs1162838049
|
|
|
NM_001458.5(FLNC):c.3193-13C>T
|
|
|
|
NM_001458.5(FLNC):c.3193-17C>A
|
|
|
|
NM_001458.5(FLNC):c.3193-18A>G
|
|
|
|
NM_001458.5(FLNC):c.3193-5C>T
|
rs1808477946
|
|
|
NM_001458.5(FLNC):c.3193-9T>G
|
|
|
|
NM_001458.5(FLNC):c.3201T>C (p.Ala1067=)
|
rs760214102
|
|
|
NM_001458.5(FLNC):c.3210G>A (p.Pro1070=)
|
|
|
|
NM_001458.5(FLNC):c.3241G>T (p.Ala1081Ser)
|
rs781760817
|
|
|
NM_001458.5(FLNC):c.3243G>T (p.Ala1081=)
|
rs534482249
|
|
|
NM_001458.5(FLNC):c.3246A>G (p.Pro1082=)
|
|
|
|
NM_001458.5(FLNC):c.3267G>T (p.Gly1089=)
|
|
|
|
NM_001458.5(FLNC):c.3285G>A (p.Leu1095=)
|
|
|
|
NM_001458.5(FLNC):c.3289C>T (p.Leu1097=)
|
rs1585159939
|
|
|
NM_001458.5(FLNC):c.3303C>T (p.Gly1101=)
|
rs568106945
|
|
|
NM_001458.5(FLNC):c.3312G>A (p.Glu1104=)
|
|
|
|
NM_001458.5(FLNC):c.3324G>A (p.Glu1108=)
|
|
|
|
NM_001458.5(FLNC):c.3339T>G (p.Gly1113=)
|
rs756592172
|
|
|
NM_001458.5(FLNC):c.3342T>C (p.Asp1114=)
|
rs2128936400
|
|
|
NM_001458.5(FLNC):c.3354T>C (p.Ala1118=)
|
rs2128936403
|
|
|
NM_001458.5(FLNC):c.3366G>A (p.Leu1122=)
|
|
|
|
NM_001458.5(FLNC):c.3381C>A (p.Gly1127=)
|
rs1052000080
|
|
|
NM_001458.5(FLNC):c.3384G>A (p.Glu1128=)
|
rs2128936416
|
|
|
NM_001458.5(FLNC):c.33C>A (p.Gly11=)
|
|
|
|
NM_001458.5(FLNC):c.33C>T (p.Gly11=)
|
|
|
|
NM_001458.5(FLNC):c.3402G>A (p.Leu1134=)
|
|
|
|
NM_001458.5(FLNC):c.3414C>T (p.Ala1138=)
|
rs751401489
|
|
|
NM_001458.5(FLNC):c.3417C>T (p.His1139=)
|
|
|
|
NM_001458.5(FLNC):c.342C>G (p.Leu114=)
|
|
|
|
NM_001458.5(FLNC):c.3448C>A (p.Arg1150=)
|
rs779184516
|
|
|
NM_001458.5(FLNC):c.3448C>G (p.Arg1150Gly)
|
rs779184516
|
|
|
NM_001458.5(FLNC):c.3456G>A (p.Val1152=)
|
|
|
|
NM_001458.5(FLNC):c.3458T>A (p.Phe1153Tyr)
|
|
|
|
NM_001458.5(FLNC):c.345G>A (p.Val115=)
|
|
|
|
NM_001458.5(FLNC):c.3465G>A (p.Pro1155=)
|
rs374686347
|
|
|
NM_001458.5(FLNC):c.3468C>T (p.Ser1156=)
|
|
|
|
NM_001458.5(FLNC):c.3483T>C (p.Ser1161=)
|
|
|
|
NM_001458.5(FLNC):c.3489G>A (p.Pro1163=)
|
rs369853278
|
|
|
NM_001458.5(FLNC):c.3489G>C (p.Pro1163=)
|
rs369853278
|
|
|
NM_001458.5(FLNC):c.3510C>G (p.Val1170=)
|
rs745571747
|
|
|
NM_001458.5(FLNC):c.352+12G>A
|
|
|
|
NM_001458.5(FLNC):c.352+13G>A
|
|
|
|
NM_001458.5(FLNC):c.352+18G>A
|
|
|
|
NM_001458.5(FLNC):c.352+8C>A
|
|
|
|
NM_001458.5(FLNC):c.352+8C>T
|
|
|
|
NM_001458.5(FLNC):c.352+9C>T
|
rs749553028
|
|
|
NM_001458.5(FLNC):c.353-11C>A
|
|
|
|
NM_001458.5(FLNC):c.353-11C>T
|
rs372623958
|
|
|
NM_001458.5(FLNC):c.353-13C>T
|
rs982648846
|
|
|
NM_001458.5(FLNC):c.353-14C>G
|
|
|
|
NM_001458.5(FLNC):c.353-18G>C
|
|
|
|
NM_001458.5(FLNC):c.353-9C>T
|
rs778957130
|
|
|
NM_001458.5(FLNC):c.3552C>T (p.Gly1184=)
|
|
|
|
NM_001458.5(FLNC):c.3564G>A (p.Leu1188=)
|
rs761683129
|
|
|
NM_001458.5(FLNC):c.3603G>A (p.Glu1201=)
|
rs755671727
|
|
|
NM_001458.5(FLNC):c.3606G>A (p.Val1202=)
|
rs374499671
|
|
|
NM_001458.5(FLNC):c.3615C>T (p.His1205=)
|
rs1554399300
|
|
|
NM_001458.5(FLNC):c.3618C>T (p.Asn1206=)
|
rs1039623010
|
|
|
NM_001458.5(FLNC):c.3630C>A (p.Gly1210=)
|
rs771020495
|
|
|
NM_001458.5(FLNC):c.3639C>T (p.His1213=)
|
rs2128936499
|
|
|
NM_001458.5(FLNC):c.363C>T (p.Ala121=)
|
rs2128933604
|
|
|
NM_001458.5(FLNC):c.3645C>A (p.Thr1215=)
|
|
|
|
NM_001458.5(FLNC):c.3663T>C (p.Pro1221=)
|
rs369734958
|
|
|
NM_001458.5(FLNC):c.3687G>A (p.Lys1229=)
|
rs1585160379
|
|
|
NM_001458.5(FLNC):c.3693C>T (p.Gly1231=)
|
rs765922145
|
|
|
NM_001458.5(FLNC):c.3711A>C (p.Lys1237Asn)
|
rs758220780
|
|
|
NM_001458.5(FLNC):c.3713T>C (p.Phe1238Ser)
|
rs777798089
|
|
|
NM_001458.5(FLNC):c.3717C>T (p.Pro1239=)
|
|
|
|
NM_001458.5(FLNC):c.3723T>C (p.Arg1241=)
|
|
|
|
NM_001458.5(FLNC):c.3732G>A (p.Val1244=)
|
|
|
|
NM_001458.5(FLNC):c.3741G>A (p.Ala1247=)
|
|
|
|
NM_001458.5(FLNC):c.3741G>C (p.Ala1247=)
|
rs763047367
|
|
|
NM_001458.5(FLNC):c.3753T>C (p.Ser1251=)
|
rs1228635169
|
|
|
NM_001458.5(FLNC):c.3765C>G (p.Val1255=)
|
rs556428588
|
|
|
NM_001458.5(FLNC):c.3783G>A (p.Glu1261=)
|
rs1585160512
|
|
|
NM_001458.5(FLNC):c.3790+14A>G
|
|
|
|
NM_001458.5(FLNC):c.3790+15G>C
|
|
|
|
NM_001458.5(FLNC):c.3790+16del
|
|
|
|
NM_001458.5(FLNC):c.3791-14C>T
|
|
|
|
NM_001458.5(FLNC):c.3798G>A (p.Leu1266=)
|
rs755949518
|
|
|
NM_001458.5(FLNC):c.3798G>T (p.Leu1266=)
|
rs755949518
|
|
|
NM_001458.5(FLNC):c.3799C>T (p.Arg1267Trp)
|
rs371483562
|
|
|
NM_001458.5(FLNC):c.3807G>A (p.Val1269=)
|
rs1585161170
|
|
|
NM_001458.5(FLNC):c.3822T>C (p.Thr1274=)
|
rs1172843229
|
|
|
NM_001458.5(FLNC):c.3833G>C (p.Arg1278Thr)
|
rs540117605
|
|
|
NM_001458.5(FLNC):c.384G>A (p.Lys128=)
|
rs1402021655
|
|
|
NM_001458.5(FLNC):c.3864G>A (p.Val1288=)
|
rs2128936748
|
|
|
NM_001458.5(FLNC):c.3866C>A (p.Thr1289Lys)
|
|
|
|
NM_001458.5(FLNC):c.3871C>G (p.Arg1291Gly)
|
rs753591663
|
|
|
NM_001458.5(FLNC):c.3879C>T (p.Leu1293=)
|
|
|
|
NM_001458.5(FLNC):c.387G>A (p.Leu129=)
|
rs1159200587
|
|
|
NM_001458.5(FLNC):c.3885C>A (p.Pro1295=)
|
|
|
|
NM_001458.5(FLNC):c.3888G>A (p.Ser1296=)
|
|
|
|
NM_001458.5(FLNC):c.3903C>T (p.Asp1301=)
|
rs777004360
|
|
|
NM_001458.5(FLNC):c.3921T>C (p.Asn1307=)
|
rs369198655
|
|
|
NM_001458.5(FLNC):c.3936C>T (p.Tyr1312=)
|
|
|
|
NM_001458.5(FLNC):c.3937C>A (p.Arg1313=)
|
rs766330686
|
|
|
NM_001458.5(FLNC):c.3952G>A (p.Ala1318Thr)
|
rs777939926
|
|
|
NM_001458.5(FLNC):c.3965-20C>A
|
|
|
|
NM_001458.5(FLNC):c.3966C>A (p.Gly1322=)
|
rs200237564
|
|
|
NM_001458.5(FLNC):c.3966C>G (p.Gly1322=)
|
|
|
|
NM_001458.5(FLNC):c.3969G>T (p.Val1323=)
|
|
|
|
NM_001458.5(FLNC):c.399G>T (p.Leu133=)
|
rs2128933616
|
|
|
NM_001458.5(FLNC):c.4008C>T (p.Pro1336=)
|
|
|
|
NM_001458.5(FLNC):c.4017C>A (p.Pro1339=)
|
rs2128936853
|
|
|
NM_001458.5(FLNC):c.4036G>A (p.Glu1346Lys)
|
|
|
|
NM_001458.5(FLNC):c.4044T>C (p.Cys1348=)
|
rs1443334555
|
|
|
NM_001458.5(FLNC):c.4053C>T (p.Thr1351=)
|
rs2128936870
|
|
|
NM_001458.5(FLNC):c.4054C>A (p.Arg1352Ser)
|
|
|
|
NM_001458.5(FLNC):c.4065C>G (p.Ala1355=)
|
|
|
|
NM_001458.5(FLNC):c.4078C>T (p.Leu1360=)
|
|
|
|
NM_001458.5(FLNC):c.4080G>A (p.Leu1360=)
|
|
|
|
NM_001458.5(FLNC):c.4088G>C (p.Gly1363Ala)
|
|
|
|
NM_001458.5(FLNC):c.408G>T (p.Thr136=)
|
rs370110008
|
|
|
NM_001458.5(FLNC):c.4101G>A (p.Lys1367=)
|
|
|
|
NM_001458.5(FLNC):c.4117G>C (p.Val1373Leu)
|
|
|
|
NM_001458.5(FLNC):c.4127+11C>A
|
|
|
|
NM_001458.5(FLNC):c.4127+11C>G
|
rs372563727
|
|
|
NM_001458.5(FLNC):c.4127+12C>G
|
|
|
|
NM_001458.5(FLNC):c.4127+13T>G
|
|
|
|
NM_001458.5(FLNC):c.4127+8C>T
|
rs2128936922
|
|
|
NM_001458.5(FLNC):c.4128-13T>A
|
rs2128937010
|
|
|
NM_001458.5(FLNC):c.4128-15G>A
|
|
|
|
NM_001458.5(FLNC):c.4128-19G>A
|
|
|
|
NM_001458.5(FLNC):c.4128-9A>C
|
rs2128937012
|
|
|
NM_001458.5(FLNC):c.4143G>C (p.Gly1381=)
|
|
|
|
NM_001458.5(FLNC):c.4152C>A (p.Gly1384=)
|
rs2128937024
|
|
|
NM_001458.5(FLNC):c.4188C>A (p.Ser1396=)
|
|
|
|
NM_001458.5(FLNC):c.4230C>T (p.Ile1410=)
|
|
|
|
NM_001458.5(FLNC):c.4233C>T (p.Pro1411=)
|
rs2128937047
|
|
|
NM_001458.5(FLNC):c.4260C>T (p.Asn1420=)
|
|
|
|
NM_001458.5(FLNC):c.4272G>C (p.Gly1424=)
|
|
|
|
NM_001458.5(FLNC):c.4277G>A (p.Arg1426Gln)
|
|
|
|
NM_001458.5(FLNC):c.4288+10G>C
|
|
|
|
NM_001458.5(FLNC):c.4288+19C>T
|
|
|
|
NM_001458.5(FLNC):c.4288+20G>A
|
|
|
|
NM_001458.5(FLNC):c.4288+9A>C
|
|
|
|
NM_001458.5(FLNC):c.4289-16G>A
|
|
|
|
NM_001458.5(FLNC):c.4289-18A>C
|
|
|
|
NM_001458.5(FLNC):c.4289-5C>T
|
|
|
|
NM_001458.5(FLNC):c.4289-7_4289-5del
|
rs1286999803
|
|
|
NM_001458.5(FLNC):c.4293C>T (p.Ser1431=)
|
rs376429779
|
|
|
NM_001458.5(FLNC):c.4301G>A (p.Arg1434His)
|
rs143623535
|
|
|
NM_001458.5(FLNC):c.4301G>T (p.Arg1434Leu)
|
rs143623535
|
|
|
NM_001458.5(FLNC):c.4329T>C (p.Pro1443=)
|
rs1183819162
|
|
|
NM_001458.5(FLNC):c.432C>G (p.Ser144=)
|
|
|
|
NM_001458.5(FLNC):c.4331G>C (p.Gly1444Ala)
|
|
|
|
NM_001458.5(FLNC):c.4356G>C (p.Gly1452=)
|
rs2128937254
|
|
|
NM_001458.5(FLNC):c.4374G>A (p.Arg1458=)
|
rs1305563889
|
|
|
NM_001458.5(FLNC):c.438C>T (p.Pro146=)
|
rs2128933631
|
|
|
NM_001458.5(FLNC):c.4392C>T (p.Thr1464=)
|
|
|
|
NM_001458.5(FLNC):c.4402G>A (p.Asp1468Asn)
|
|
|
|
NM_001458.5(FLNC):c.4456+15G>A
|
|
|
|
NM_001458.5(FLNC):c.4456+17G>T
|
|
|
|
NM_001458.5(FLNC):c.4457-19C>A
|
rs369731117
|
|
|
NM_001458.5(FLNC):c.4457-4C>T
|
rs2128937315
|
|
|
NM_001458.5(FLNC):c.4457-8T>C
|
rs2128937313
|
|
|
NM_001458.5(FLNC):c.4464C>G (p.Ala1488=)
|
|
|
|
NM_001458.5(FLNC):c.4467G>A (p.Glu1489=)
|
rs1808631322
|
|
|
NM_001458.5(FLNC):c.4479G>A (p.Val1493=)
|
rs756021559
|
|
|
NM_001458.5(FLNC):c.4505C>T (p.Thr1502Ile)
|
|
|
|
NM_001458.5(FLNC):c.4525A>G (p.Thr1509Ala)
|
|
|
|
NM_001458.5(FLNC):c.4536C>T (p.Pro1512=)
|
|
|
|
NM_001458.5(FLNC):c.4542G>A (p.Thr1514=)
|
|
|
|
NM_001458.5(FLNC):c.4560T>C (p.Ala1520=)
|
rs2128937366
|
|
|
NM_001458.5(FLNC):c.4575A>G (p.Pro1525=)
|
|
|
|
NM_001458.5(FLNC):c.4578C>A (p.Arg1526=)
|
|
|
|
NM_001458.5(FLNC):c.4580+12C>A
|
|
|
|
NM_001458.5(FLNC):c.4580+19C>T
|
|
|
|
NM_001458.5(FLNC):c.4580+20T>C
|
|
|
|
NM_001458.5(FLNC):c.4581-10G>A
|
rs2128937516
|
|
|
NM_001458.5(FLNC):c.4581-10G>C
|
|
|
|
NM_001458.5(FLNC):c.4581-10_4581-8del
|
rs2128937515
|
|
|
NM_001458.5(FLNC):c.4581-15C>T
|
|
|
|
NM_001458.5(FLNC):c.4581-6C>T
|
|
|
|
NM_001458.5(FLNC):c.45C>T (p.Gly15=)
|
rs2128932096
|
|
|
NM_001458.5(FLNC):c.4605A>G (p.Pro1535=)
|
rs1017137913
|
|
|
NM_001458.5(FLNC):c.4605A>T (p.Pro1535=)
|
|
|
|
NM_001458.5(FLNC):c.4617C>T (p.Ala1539=)
|
|
|
|
NM_001458.5(FLNC):c.4632C>G (p.Ala1544=)
|
|
|
|
NM_001458.5(FLNC):c.4653C>T (p.Ala1551=)
|
rs939470112
|
|
|
NM_001458.5(FLNC):c.4674G>A (p.Leu1558=)
|
|
|
|
NM_001458.5(FLNC):c.4680G>T (p.Val1560=)
|
|
|
|
NM_001458.5(FLNC):c.4689C>A (p.Thr1563=)
|
rs2128937560
|
|
|
NM_001458.5(FLNC):c.468C>A (p.Ala156=)
|
rs1177374780
|
|
|
NM_001458.5(FLNC):c.4698A>C (p.Ala1566=)
|
|
|
|
NM_001458.5(FLNC):c.4716G>T (p.Gly1572=)
|
|
|
|
NM_001458.5(FLNC):c.4737+12T>C
|
|
|
|
NM_001458.5(FLNC):c.4737+15A>C
|
rs182734223
|
|
|
NM_001458.5(FLNC):c.4737+19C>G
|
|
|
|
NM_001458.5(FLNC):c.4737+20A>G
|
|
|
|
NM_001458.5(FLNC):c.4738-11T>C
|
|
|
|
NM_001458.5(FLNC):c.4738-15C>G
|
|
|
|
NM_001458.5(FLNC):c.4738-17C>T
|
rs2128937608
|
|
|
NM_001458.5(FLNC):c.4738-6C>A
|
|
|
|
NM_001458.5(FLNC):c.4738-6C>T
|
rs771410017
|
|
|
NM_001458.5(FLNC):c.4738-7C>T
|
rs1808677827
|
|
|
NM_001458.5(FLNC):c.4740C>T (p.Asp1580=)
|
rs759816924
|
|
|
NM_001458.5(FLNC):c.4743C>G (p.Pro1581=)
|
rs765574147
|
|
|
NM_001458.5(FLNC):c.4743C>T (p.Pro1581=)
|
|
|
|
NM_001458.5(FLNC):c.4752G>A (p.Lys1584=)
|
|
|
|
NM_001458.5(FLNC):c.4764C>T (p.Ala1588=)
|
|
|
|
NM_001458.5(FLNC):c.4767C>T (p.Asn1589=)
|
rs2128937627
|
|
|
NM_001458.5(FLNC):c.4771C>A (p.Arg1591=)
|
rs576453637
|
|
|
NM_001458.5(FLNC):c.4791G>A (p.Thr1597=)
|
rs374180766
|
|
|
NM_001458.5(FLNC):c.4791G>T (p.Thr1597=)
|
|
|
|
NM_001458.5(FLNC):c.4794C>T (p.Tyr1598=)
|
rs1808681247
|
|
|
NM_001458.5(FLNC):c.4797T>C (p.Thr1599=)
|
|
|
|
NM_001458.5(FLNC):c.4806C>T (p.Tyr1602=)
|
|
|
|
NM_001458.5(FLNC):c.480G>T (p.Thr160=)
|
|
|
|
NM_001458.5(FLNC):c.4812G>A (p.Pro1604=)
|
rs553400393
|
|
|
NM_001458.5(FLNC):c.4812G>T (p.Pro1604=)
|
|
|
|
NM_001458.5(FLNC):c.4815C>T (p.Asp1605=)
|
rs2128937651
|
|
|
NM_001458.5(FLNC):c.4818G>A (p.Met1606Ile)
|
|
|
|
NM_001458.5(FLNC):c.4819A>G (p.Ser1607Gly)
|
|
|
|
NM_001458.5(FLNC):c.4845G>A (p.Lys1615=)
|
|
|
|
NM_001458.5(FLNC):c.4851C>A (p.Gly1617=)
|
|
|
|
NM_001458.5(FLNC):c.4857T>C (p.Asp1619=)
|
rs1169437113
|
|
|
NM_001458.5(FLNC):c.4863C>T (p.Ile1621=)
|
|
|
|
NM_001458.5(FLNC):c.4869C>T (p.Tyr1623=)
|
|
|
|
NM_001458.5(FLNC):c.4879C>G (p.Arg1627Gly)
|
|
|
|
NM_001458.5(FLNC):c.4884C>A (p.Ile1628=)
|
rs1808686843
|
|
|
NM_001458.5(FLNC):c.4896C>T (p.Pro1632=)
|
rs2128937674
|
|
|
NM_001458.5(FLNC):c.4927+10C>T
|
|
|
|
NM_001458.5(FLNC):c.4927+12C>T
|
|
|
|
NM_001458.5(FLNC):c.4927+13C>A
|
|
|
|
NM_001458.5(FLNC):c.4927+14C>A
|
|
|
|
NM_001458.5(FLNC):c.4928-10C>G
|
rs2128937745
|
|
|
NM_001458.5(FLNC):c.4928-16T>G
|
|
|
|
NM_001458.5(FLNC):c.492G>A (p.Arg164=)
|
rs751988597
|
|
|
NM_001458.5(FLNC):c.492G>T (p.Arg164=)
|
rs751988597
|
|
|
NM_001458.5(FLNC):c.4941C>T (p.Gly1647=)
|
|
|
|
NM_001458.5(FLNC):c.4951+16C>G
|
|
|
|
NM_001458.5(FLNC):c.4951+19C>A
|
|
|
|
NM_001458.5(FLNC):c.4952-11C>T
|
|
|
|
NM_001458.5(FLNC):c.4952-15T>A
|
|
|
|
NM_001458.5(FLNC):c.4952-20C>T
|
rs1199089488
|
|
|
NM_001458.5(FLNC):c.4952-7A>G
|
rs746914067
|
|
|
NM_001458.5(FLNC):c.4952-7A>T
|
|
|
|
NM_001458.5(FLNC):c.4952-9G>A
|
rs747821376
|
|
|
NM_001458.5(FLNC):c.4952-9G>C
|
rs747821376
|
|
|
NM_001458.5(FLNC):c.4953T>G (p.Gly1651=)
|
|
|
|
NM_001458.5(FLNC):c.4956C>A (p.Ala1652=)
|
|
|
|
NM_001458.5(FLNC):c.4989G>A (p.Glu1663=)
|
|
|
|
NM_001458.5(FLNC):c.5001G>T (p.Thr1667=)
|
rs370711488
|
|
|
NM_001458.5(FLNC):c.5022T>G (p.Gly1674=)
|
rs1282017206
|
|
|
NM_001458.5(FLNC):c.5025G>A (p.Glu1675=)
|
|
|
|
NM_001458.5(FLNC):c.5028G>A (p.Gly1676=)
|
|
|
|
NM_001458.5(FLNC):c.5042C>T (p.Thr1681Met)
|
rs193159707
|
|
|
NM_001458.5(FLNC):c.5068C>G (p.Leu1690Val)
|
|
|
|
NM_001458.5(FLNC):c.5088G>A (p.Glu1696=)
|
rs1563000172
|
|
|
NM_001458.5(FLNC):c.5130G>A (p.Glu1710=)
|
|
|
|
NM_001458.5(FLNC):c.5187C>T (p.Pro1729=)
|
rs2128937847
|
|
|
NM_001458.5(FLNC):c.5194G>A (p.Val1732Met)
|
rs374848954
|
|
|
NM_001458.5(FLNC):c.5199+14C>T
|
|
|
|
NM_001458.5(FLNC):c.5199+15CA[4]
|
|
|
|
NM_001458.5(FLNC):c.5199+18A>G
|
rs2128937856
|
|
|
NM_001458.5(FLNC):c.5199+9T>C
|
|
|
|
NM_001458.5(FLNC):c.5200-10G>A
|
rs1554400346
|
|
|
NM_001458.5(FLNC):c.5200-20C>T
|
|
|
|
NM_001458.5(FLNC):c.5217G>C (p.Pro1739=)
|
rs769643482
|
|
|
NM_001458.5(FLNC):c.5217G>T (p.Pro1739=)
|
rs769643482
|
|
|
NM_001458.5(FLNC):c.5223G>A (p.Glu1741=)
|
|
|
|
NM_001458.5(FLNC):c.5252G>A (p.Arg1751His)
|
|
|
|
NM_001458.5(FLNC):c.5268T>A (p.Pro1756=)
|
rs1694081600
|
|
|
NM_001458.5(FLNC):c.5274G>A (p.Arg1758=)
|
rs1053977049
|
|
|
NM_001458.5(FLNC):c.5277C>A (p.Pro1759=)
|
rs763698034
|
|
|
NM_001458.5(FLNC):c.5287C>A (p.Pro1763Thr)
|
|
|
|
NM_001458.5(FLNC):c.5289C>T (p.Pro1763=)
|
rs2128937979
|
|
|
NM_001458.5(FLNC):c.528G>C (p.Leu176=)
|
rs2128933672
|
|
|
NM_001458.5(FLNC):c.5298+13C>T
|
rs1184909389
|
|
|
NM_001458.5(FLNC):c.5298+14C>T
|
rs2128937990
|
|
|
NM_001458.5(FLNC):c.5298+17C>A
|
|
|
|
NM_001458.5(FLNC):c.5298+7C>G
|
rs773294846
|
|
|
NM_001458.5(FLNC):c.5298+8G>T
|
rs867964395
|
|
|
NM_001458.5(FLNC):c.5298+9C>A
|
|
|
|
NM_001458.5(FLNC):c.5299-10C>T
|
rs2128938071
|
|
|
NM_001458.5(FLNC):c.5299-13T>A
|
rs2128938069
|
|
|
NM_001458.5(FLNC):c.5299-16del
|
|
|
|
NM_001458.5(FLNC):c.5299-9C>T
|
rs1554400444
|
|
|
NM_001458.5(FLNC):c.5304A>C (p.Thr1768=)
|
|
|
|
NM_001458.5(FLNC):c.5304A>G (p.Thr1768=)
|
|
|
|
NM_001458.5(FLNC):c.5307G>A (p.Glu1769=)
|
|
|
|
NM_001458.5(FLNC):c.5310G>A (p.Glu1770=)
|
rs777868799
|
|
|
NM_001458.5(FLNC):c.531C>T (p.Pro177=)
|
rs1295139676
|
|
|
NM_001458.5(FLNC):c.5322T>C (p.Pro1774=)
|
|
|
|
NM_001458.5(FLNC):c.5328G>A (p.Glu1776=)
|
rs776941739
|
|
|
NM_001458.5(FLNC):c.5331A>G (p.Pro1777=)
|
rs2128938084
|
|
|
NM_001458.5(FLNC):c.5358C>T (p.Asn1786=)
|
|
|
|
NM_001458.5(FLNC):c.5363T>G (p.Val1788Gly)
|
rs573899913
|
|
|
NM_001458.5(FLNC):c.5379G>A (p.Val1793=)
|
rs558457664
|
|
|
NM_001458.5(FLNC):c.5391G>A (p.Glu1797=)
|
|
|
|
NM_001458.5(FLNC):c.5398+11G>A
|
|
|
|
NM_001458.5(FLNC):c.5398+12T>G
|
rs2128938113
|
|
|
NM_001458.5(FLNC):c.5398+20A>T
|
|
|
|
NM_001458.5(FLNC):c.5399-12_5399-9del
|
rs766580034
|
|
|
NM_001458.5(FLNC):c.5399-13_5399-12del
|
|
|
|
NM_001458.5(FLNC):c.5399-16T>C
|
|
|
|
NM_001458.5(FLNC):c.5399-17C>T
|
rs930809365
|
|
|
NM_001458.5(FLNC):c.5399-8C>A
|
|
|
|
NM_001458.5(FLNC):c.5399-8C>T
|
rs575189613
|
|
|
NM_001458.5(FLNC):c.5421G>C (p.Gly1807=)
|
|
|
|
NM_001458.5(FLNC):c.5427G>A (p.Thr1809=)
|
rs774600814
|
|
|
NM_001458.5(FLNC):c.5427G>C (p.Thr1809=)
|
rs774600814
|
|
|
NM_001458.5(FLNC):c.5431C>A (p.Arg1811=)
|
|
|
|
NM_001458.5(FLNC):c.543C>T (p.Phe181=)
|
rs2128933683
|
|
|
NM_001458.5(FLNC):c.5469G>A (p.Thr1823=)
|
rs550620019
|
|
|
NM_001458.5(FLNC):c.5484C>T (p.Pro1828=)
|
|
|
|
NM_001458.5(FLNC):c.5493A>G (p.Lys1831=)
|
|
|
|
NM_001458.5(FLNC):c.5517G>A (p.Lys1839=)
|
rs779185071
|
|
|
NM_001458.5(FLNC):c.5520T>C (p.Tyr1840=)
|
rs1808781579
|
|
|
NM_001458.5(FLNC):c.5539+10GGGCT[2]
|
rs752668700
|
|
|
NM_001458.5(FLNC):c.5539+10GGGCT[4]
|
rs752668700
|
|
|
NM_001458.5(FLNC):c.5539+16G>T
|
|
|
|
NM_001458.5(FLNC):c.5540-19T>C
|
rs2128938346
|
|
|
NM_001458.5(FLNC):c.5540-5C>T
|
rs2128938350
|
|
|
NM_001458.5(FLNC):c.5540-6C>A
|
rs201335006
|
|
|
NM_001458.5(FLNC):c.5540-8A>G
|
rs760965562
|
|
|
NM_001458.5(FLNC):c.5547C>G (p.Pro1849=)
|
|
|
|
NM_001458.5(FLNC):c.5547C>T (p.Pro1849=)
|
|
|
|
NM_001458.5(FLNC):c.5550A>G (p.Leu1850=)
|
|
|
|
NM_001458.5(FLNC):c.5568C>G (p.Ala1856=)
|
rs1554400651
|
|
|
NM_001458.5(FLNC):c.5607G>C (p.Leu1869=)
|
rs2128938380
|
|
|
NM_001458.5(FLNC):c.5625C>T (p.Asn1875=)
|
rs2128938386
|
|
|
NM_001458.5(FLNC):c.5643T>C (p.Thr1881=)
|
|
|
|
NM_001458.5(FLNC):c.5668+16G>T
|
|
|
|
NM_001458.5(FLNC):c.5668+16del
|
|
|
|
NM_001458.5(FLNC):c.5668+18C>A
|
|
|
|
NM_001458.5(FLNC):c.5668+19G>A
|
|
|
|
NM_001458.5(FLNC):c.5668+20C>T
|
|
|
|
NM_001458.5(FLNC):c.5668+8A>C
|
rs2128938396
|
|
|
NM_001458.5(FLNC):c.5669-13C>T
|
rs375339065
|
|
|
NM_001458.5(FLNC):c.5669-15C>T
|
|
|
|
NM_001458.5(FLNC):c.5669-17C>G
|
|
|
|
NM_001458.5(FLNC):c.5669-8A>T
|
|
|
|
NM_001458.5(FLNC):c.5680C>T (p.Leu1894=)
|
|
|
|
NM_001458.5(FLNC):c.5697A>G (p.Pro1899=)
|
rs1585166641
|
|
|
NM_001458.5(FLNC):c.5703G>A (p.Lys1901=)
|
rs1440069448
|
|
|
NM_001458.5(FLNC):c.5709G>A (p.Glu1903=)
|
rs1279073825
|
|
|
NM_001458.5(FLNC):c.5733T>C (p.Asp1911=)
|
|
|
|
NM_001458.5(FLNC):c.5736C>A (p.Gly1912=)
|
|
|
|
NM_001458.5(FLNC):c.5742C>T (p.Cys1914=)
|
rs1808812204
|
|
|
NM_001458.5(FLNC):c.5745C>G (p.Thr1915=)
|
rs369449907
|
|
|
NM_001458.5(FLNC):c.5754T>C (p.Tyr1918=)
|
rs764539989
|
|
|
NM_001458.5(FLNC):c.5766G>T (p.Ala1922=)
|
|
|
|
NM_001458.5(FLNC):c.5777A>G (p.Tyr1926Cys)
|
rs376653815
|
|
|
NM_001458.5(FLNC):c.5792G>T (p.Arg1931Leu)
|
rs780685346
|
|
|
NM_001458.5(FLNC):c.5793C>G (p.Arg1931=)
|
rs374631384
|
|
|
NM_001458.5(FLNC):c.579C>T (p.Ala193=)
|
rs2128933691
|
|
|
NM_001458.5(FLNC):c.57C>T (p.Asp19=)
|
rs754468596
|
|
|
NM_001458.5(FLNC):c.5802C>T (p.Asp1934=)
|
|
|
|
NM_001458.5(FLNC):c.5808C>T (p.His1936=)
|
rs2128938491
|
|
|
NM_001458.5(FLNC):c.5814G>C (p.Pro1938=)
|
rs752263141
|
|
|
NM_001458.5(FLNC):c.5823C>T (p.Pro1941=)
|
|
|
|
NM_001458.5(FLNC):c.5829A>G (p.Thr1943=)
|
rs2128938497
|
|
|
NM_001458.5(FLNC):c.5832C>A (p.Ala1944=)
|
|
|
|
NM_001458.5(FLNC):c.5842+11T>G
|
rs998829059
|
|
|
NM_001458.5(FLNC):c.5842+13T>A
|
|
|
|
NM_001458.5(FLNC):c.5842+14A>T
|
|
|
|
NM_001458.5(FLNC):c.5842+17G>T
|
|
|
|
NM_001458.5(FLNC):c.5842+7C>A
|
|
|
|
NM_001458.5(FLNC):c.5843-10C>A
|
|
|
|
NM_001458.5(FLNC):c.5843-10C>G
|
|
|
|
NM_001458.5(FLNC):c.5843-17C>T
|
|
|
|
NM_001458.5(FLNC):c.5843-4C>T
|
rs2128938764
|
|
|
NM_001458.5(FLNC):c.5847T>C (p.Asp1949=)
|
rs2128938766
|
|
|
NM_001458.5(FLNC):c.588C>T (p.Asp196=)
|
|
|
|
NM_001458.5(FLNC):c.5895G>C (p.Val1965=)
|
rs2128938778
|
|
|
NM_001458.5(FLNC):c.5907C>T (p.Ile1969=)
|
|
|
|
NM_001458.5(FLNC):c.5937C>T (p.Ala1979=)
|
|
|
|
NM_001458.5(FLNC):c.5940C>T (p.Ser1980=)
|
|
|
|
NM_001458.5(FLNC):c.5967G>A (p.Glu1989=)
|
rs2128938808
|
|
|
NM_001458.5(FLNC):c.5977C>T (p.Leu1993=)
|
|
|
|
NM_001458.5(FLNC):c.5979G>C (p.Leu1993=)
|
|
|
|
NM_001458.5(FLNC):c.5979G>T (p.Leu1993=)
|
|
|
|
NM_001458.5(FLNC):c.5983C>T (p.Arg1995Cys)
|
rs1303027892
|
|
|
NM_001458.5(FLNC):c.5995C>T (p.Arg1999Trp)
|
rs746182820
|
|
|
NM_001458.5(FLNC):c.5997G>A (p.Arg1999=)
|
rs1554400935
|
|
|
NM_001458.5(FLNC):c.5999A>C (p.His2000Pro)
|
rs572095826
|
|
|
NM_001458.5(FLNC):c.6000C>T (p.His2000=)
|
|
|
|
NM_001458.5(FLNC):c.6004+10G>A
|
rs2128938830
|
|
|
NM_001458.5(FLNC):c.6004+18C>T
|
|
|
|
NM_001458.5(FLNC):c.6004+7G>C
|
rs771535289
|
|
|
NM_001458.5(FLNC):c.6005-10C>T
|
|
|
|
NM_001458.5(FLNC):c.6005-11A>T
|
|
|
|
NM_001458.5(FLNC):c.6005-12del
|
|
|
|
NM_001458.5(FLNC):c.6005-14C>T
|
|
|
|
NM_001458.5(FLNC):c.6005-7T>C
|
rs1585167904
|
|
|
NM_001458.5(FLNC):c.6006G>C (p.Gly2002=)
|
rs949178854
|
|
|
NM_001458.5(FLNC):c.6009C>A (p.Ile2003=)
|
rs2128938866
|
|
|
NM_001458.5(FLNC):c.6009C>T (p.Ile2003=)
|
|
|
|
NM_001458.5(FLNC):c.601+13G>T
|
rs1244760459
|
|
|
NM_001458.5(FLNC):c.601+17G>A
|
rs2128933708
|
|
|
NM_001458.5(FLNC):c.601+19A>G
|
|
|
|
NM_001458.5(FLNC):c.601+20C>A
|
rs2128933710
|
|
|
NM_001458.5(FLNC):c.601+8G>C
|
|
|
|
NM_001458.5(FLNC):c.6012C>G (p.Ser2004=)
|
|
|
|
NM_001458.5(FLNC):c.602-4C>T
|
|
|
|
NM_001458.5(FLNC):c.602-7T>A
|
|
|
|
NM_001458.5(FLNC):c.602-8C>T
|
rs2128934052
|
|
|
NM_001458.5(FLNC):c.6039C>T (p.His2013=)
|
rs776613969
|
|
|
NM_001458.5(FLNC):c.6045G>A (p.Val2015=)
|
|
|
|
NM_001458.5(FLNC):c.6057G>A (p.Lys2019=)
|
rs1297126422
|
|
|
NM_001458.5(FLNC):c.6099G>A (p.Val2033=)
|
|
|
|
NM_001458.5(FLNC):c.60G>A (p.Glu20=)
|
|
|
|
NM_001458.5(FLNC):c.6105A>G (p.Pro2035=)
|
rs2128938904
|
|
|
NM_001458.5(FLNC):c.6108T>C (p.Ser2036=)
|
|
|
|
NM_001458.5(FLNC):c.6111G>A (p.Glu2037=)
|
rs746635805
|
|
|
NM_001458.5(FLNC):c.6132G>T (p.Val2044=)
|
rs1808885875
|
|
|
NM_001458.5(FLNC):c.6135G>C (p.Arg2045=)
|
rs1585168080
|
|
|
NM_001458.5(FLNC):c.6147G>T (p.Lys2049Asn)
|
|
|
|
NM_001458.5(FLNC):c.6168A>G (p.Thr2056=)
|
rs1808887834
|
|
|
NM_001458.5(FLNC):c.6177G>A (p.Val2059=)
|
|
|
|
NM_001458.5(FLNC):c.6208+19A>G
|
|
|
|
NM_001458.5(FLNC):c.6208+8C>G
|
|
|
|
NM_001458.5(FLNC):c.6209-12G>A
|
|
|
|
NM_001458.5(FLNC):c.6209-12G>T
|
|
|
|
NM_001458.5(FLNC):c.6209-15C>T
|
|
|
|
NM_001458.5(FLNC):c.6209-18T>C
|
rs1808910059
|
|
|
NM_001458.5(FLNC):c.6209-7C>T
|
|
|
|
NM_001458.5(FLNC):c.6210T>C (p.Gly2070=)
|
rs2128939065
|
|
|
NM_001458.5(FLNC):c.6216G>A (p.Gly2072=)
|
rs200670345
|
|
|
NM_001458.5(FLNC):c.6252G>A (p.Val2084=)
|
rs1386646158
|
|
|
NM_001458.5(FLNC):c.6262T>C (p.Cys2088Arg)
|
|
|
|
NM_001458.5(FLNC):c.6285A>T (p.Thr2095=)
|
rs2128939108
|
|
|
NM_001458.5(FLNC):c.6297C>T (p.Thr2099=)
|
|
|
|
NM_001458.5(FLNC):c.6324C>T (p.Tyr2108=)
|
|
|
|
NM_001458.5(FLNC):c.6361+11G>A
|
|
|
|
NM_001458.5(FLNC):c.6361+11G>T
|
|
|
|
NM_001458.5(FLNC):c.6361+16G>A
|
|
|
|
NM_001458.5(FLNC):c.6362-10C>T
|
rs1350699492
|
|
|
NM_001458.5(FLNC):c.6362-14T>G
|
rs2128939162
|
|
|
NM_001458.5(FLNC):c.6362-6C>T
|
rs1808923840
|
|
|
NM_001458.5(FLNC):c.6362-8C>T
|
|
|
|
NM_001458.5(FLNC):c.6362-9C>G
|
|
|
|
NM_001458.5(FLNC):c.6369C>T (p.Pro2123=)
|
rs752728262
|
|
|
NM_001458.5(FLNC):c.636C>T (p.Asn212=)
|
rs1370543390
|
|
|
NM_001458.5(FLNC):c.6396C>T (p.Gly2132=)
|
|
|
|
NM_001458.5(FLNC):c.6405G>A (p.Lys2135=)
|
rs886043826
|
|
|
NM_001458.5(FLNC):c.6417C>T (p.Thr2139=)
|
rs2128939183
|
|
|
NM_001458.5(FLNC):c.6418C>T (p.Arg2140Trp)
|
|
|
|
NM_001458.5(FLNC):c.6420G>A (p.Arg2140=)
|
rs2128939187
|
|
|
NM_001458.5(FLNC):c.6421C>A (p.Arg2141=)
|
|
|
|
NM_001458.5(FLNC):c.6428A>G (p.Gln2143Arg)
|
rs774715089
|
|
|
NM_001458.5(FLNC):c.6429G>A (p.Gln2143=)
|
rs1434750571
|
|
|
NM_001458.5(FLNC):c.642C>G (p.Pro214=)
|
rs2291558
|
|
|
NM_001458.5(FLNC):c.6435T>C (p.Pro2145=)
|
|
|
|
NM_001458.5(FLNC):c.6453C>A (p.Gly2151=)
|
rs1808928125
|
|
|
NM_001458.5(FLNC):c.6459C>A (p.Thr2153=)
|
rs113618587
|
|
|
NM_001458.5(FLNC):c.6459C>G (p.Thr2153=)
|
rs113618587
|
|
|
NM_001458.5(FLNC):c.6462T>C (p.Cys2154=)
|
|
|
|
NM_001458.5(FLNC):c.6474C>T (p.Leu2158=)
|
|
|
|
NM_001458.5(FLNC):c.6484+8C>T
|
|
|
|
NM_001458.5(FLNC):c.6485-6A>G
|
|
|
|
NM_001458.5(FLNC):c.6486A>G (p.Gly2162=)
|
rs1462242192
|
|
|
NM_001458.5(FLNC):c.6489C>T (p.Asn2163=)
|
|
|
|
NM_001458.5(FLNC):c.6510C>A (p.Ala2170=)
|
|
|
|
NM_001458.5(FLNC):c.6573G>C (p.Thr2191=)
|
rs761680664
|
|
|
NM_001458.5(FLNC):c.6594C>A (p.Gly2198=)
|
rs754112206
|
|
|
NM_001458.5(FLNC):c.6606G>A (p.Lys2202=)
|
|
|
|
NM_001458.5(FLNC):c.6609C>G (p.Arg2203=)
|
|
|
|
NM_001458.5(FLNC):c.6609C>T (p.Arg2203=)
|
rs374101315
|
|
|
NM_001458.5(FLNC):c.6612G>A (p.Glu2204=)
|
|
|
|
NM_001458.5(FLNC):c.6613G>A (p.Val2205Met)
|
|
|
|
NM_001458.5(FLNC):c.6622G>A (p.Glu2208Lys)
|
|
|
|
NM_001458.5(FLNC):c.6627G>A (p.Glu2209=)
|
|
|
|
NM_001458.5(FLNC):c.6648C>T (p.Asp2216=)
|
rs1362841989
|
|
|
NM_001458.5(FLNC):c.6654C>T (p.Phe2218=)
|
rs2128939330
|
|
|
NM_001458.5(FLNC):c.6660T>C (p.Ala2220=)
|
rs1808949010
|
|
|
NM_001458.5(FLNC):c.6663G>C (p.Val2221=)
|
rs776372673
|
|
|
NM_001458.5(FLNC):c.6672C>T (p.Asp2224=)
|
|
|
|
NM_001458.5(FLNC):c.6673T>C (p.Phe2225Leu)
|
|
|
|
NM_001458.5(FLNC):c.6689G>T (p.Arg2230Leu)
|
rs376035195
|
|
|
NM_001458.5(FLNC):c.669G>A (p.Gln223=)
|
rs1048868093
|
|
|
NM_001458.5(FLNC):c.66G>A (p.Pro22=)
|
rs1585147676
|
|
|
NM_001458.5(FLNC):c.6702C>G (p.Phe2234Leu)
|
rs370589662
|
|
|
NM_001458.5(FLNC):c.6714C>G (p.Thr2238=)
|
rs10268251
|
|
|
NM_001458.5(FLNC):c.6727+11_6727+26dup
|
|
|
|
NM_001458.5(FLNC):c.6727+15C>A
|
rs2128939385
|
|
|
NM_001458.5(FLNC):c.6727+9C>A
|
rs770803250
|
|
|
NM_001458.5(FLNC):c.6727+9C>G
|
rs770803250
|
|
|
NM_001458.5(FLNC):c.6728-15C>A
|
rs2128939431
|
|
|
NM_001458.5(FLNC):c.6728-15C>G
|
|
|
|
NM_001458.5(FLNC):c.6728-7C>A
|
rs2128939437
|
|
|
NM_001458.5(FLNC):c.6728-8C>T
|
rs2128939436
|
|
|
NM_001458.5(FLNC):c.6729T>C (p.Gly2243=)
|
|
|
|
NM_001458.5(FLNC):c.6738C>T (p.Ser2246=)
|
rs1042317054
|
|
|
NM_001458.5(FLNC):c.675C>G (p.Ala225=)
|
rs780730123
|
|
|
NM_001458.5(FLNC):c.675C>T (p.Ala225=)
|
rs780730123
|
|
|
NM_001458.5(FLNC):c.6774G>C (p.Ser2258=)
|
|
|
|
NM_001458.5(FLNC):c.6799G>A (p.Val2267Ile)
|
rs758080422
|
|
|
NM_001458.5(FLNC):c.6809A>T (p.Glu2270Val)
|
rs780658670
|
|
|
NM_001458.5(FLNC):c.6816C>A (p.Ser2272Arg)
|
rs375139827
|
|
|
NM_001458.5(FLNC):c.6835G>A (p.Val2279Met)
|
|
|
|
NM_001458.5(FLNC):c.6846A>G (p.Glu2282=)
|
|
|
|
NM_001458.5(FLNC):c.6855C>T (p.Pro2285=)
|
rs772323242
|
|
|
NM_001458.5(FLNC):c.6860C>T (p.Thr2287Met)
|
rs1434865362
|
|
|
NM_001458.5(FLNC):c.690G>A (p.Gly230=)
|
rs775254295
|
|
|
NM_001458.5(FLNC):c.6915T>C (p.Thr2305=)
|
rs1808975093
|
|
|
NM_001458.5(FLNC):c.6918G>T (p.Val2306=)
|
|
|
|
NM_001458.5(FLNC):c.6924G>T (p.Pro2308=)
|
|
|
|
NM_001458.5(FLNC):c.6948G>A (p.Lys2316=)
|
rs1808976729
|
|
|
NM_001458.5(FLNC):c.6952C>T (p.Arg2318Trp)
|
|
|
|
NM_001458.5(FLNC):c.6957C>G (p.Ala2319=)
|
rs553639480
|
|
|
NM_001458.5(FLNC):c.6963C>T (p.Gly2321=)
|
|
|
|
NM_001458.5(FLNC):c.6972G>A (p.Leu2324=)
|
rs1026201839
|
|
|
NM_001458.5(FLNC):c.699+18G>A
|
rs2128934092
|
|
|
NM_001458.5(FLNC):c.699+7G>T
|
|
|
|
NM_001458.5(FLNC):c.699+9G>T
|
rs749055253
|
|
|
NM_001458.5(FLNC):c.699+9dup
|
|
|
|
NM_001458.5(FLNC):c.6991G>T (p.Val2331Leu)
|
rs191288058
|
|
|
NM_001458.5(FLNC):c.6997+18A>G
|
|
|
|
NM_001458.5(FLNC):c.6997+19G>A
|
|
|
|
NM_001458.5(FLNC):c.6997+7G>T
|
|
|
|
NM_001458.5(FLNC):c.6998-17A>G
|
|
|
|
NM_001458.5(FLNC):c.6998-19C>G
|
rs1187236355
|
|
|
NM_001458.5(FLNC):c.6998-20A>G
|
|
|
|
NM_001458.5(FLNC):c.6998-4C>G
|
|
|
|
NM_001458.5(FLNC):c.6998-6C>G
|
rs1336346022
|
|
|
NM_001458.5(FLNC):c.6998-9T>G
|
|
|
|
NM_001458.5(FLNC):c.6999C>G (p.Ala2333=)
|
|
|
|
NM_001458.5(FLNC):c.700-18C>G
|
rs1305665823
|
|
|
NM_001458.5(FLNC):c.700-4G>A
|
|
|
|
NM_001458.5(FLNC):c.7023G>A (p.Glu2341=)
|
rs2128939611
|
|
|
NM_001458.5(FLNC):c.7039C>T (p.Leu2347=)
|
|
|
|
NM_001458.5(FLNC):c.7068A>G (p.Lys2356=)
|
|
|
|
NM_001458.5(FLNC):c.7080A>G (p.Ala2360=)
|
rs1554401489
|
|
|
NM_001458.5(FLNC):c.7104C>T (p.Ser2368=)
|
rs1585170155
|
|
|
NM_001458.5(FLNC):c.7110C>A (p.Gly2370=)
|
rs770288312
|
|
|
NM_001458.5(FLNC):c.7122C>T (p.Val2374=)
|
rs374711133
|
|
|
NM_001458.5(FLNC):c.7135+10C>T
|
|
|
|
NM_001458.5(FLNC):c.7135+13A>C
|
|
|
|
NM_001458.5(FLNC):c.7135+13A>G
|
|
|
|
NM_001458.5(FLNC):c.7135+13A>T
|
rs2128939658
|
|
|
NM_001458.5(FLNC):c.7135+14C>T
|
|
|
|
NM_001458.5(FLNC):c.7135+9C>A
|
rs2128939656
|
|
|
NM_001458.5(FLNC):c.7136-10C>G
|
rs982485834
|
|
|
NM_001458.5(FLNC):c.7136-5C>T
|
|
|
|
NM_001458.5(FLNC):c.7136-8C>T
|
rs2128939734
|
|
|
NM_001458.5(FLNC):c.7158G>A (p.Lys2386=)
|
rs1554401556
|
|
|
NM_001458.5(FLNC):c.7197G>A (p.Val2399=)
|
rs1170465988
|
|
|
NM_001458.5(FLNC):c.7212C>T (p.Leu2404=)
|
rs1809008715
|
|
|
NM_001458.5(FLNC):c.7224T>G (p.Ala2408=)
|
rs2128939770
|
|
|
NM_001458.5(FLNC):c.7230T>C (p.Arg2410=)
|
|
|
|
NM_001458.5(FLNC):c.7233C>T (p.Leu2411=)
|
|
|
|
NM_001458.5(FLNC):c.7251+16G>A
|
rs573245805
|
|
|
NM_001458.5(FLNC):c.7251+16G>C
|
|
|
|
NM_001458.5(FLNC):c.7251+16G>T
|
|
|
|
NM_001458.5(FLNC):c.7251+18G>T
|
|
|
|
NM_001458.5(FLNC):c.7251+7G>A
|
rs1809010910
|
|
|
NM_001458.5(FLNC):c.7252-13G>A
|
|
|
|
NM_001458.5(FLNC):c.7252-14C>T
|
|
|
|
NM_001458.5(FLNC):c.7260G>A (p.Gly2420=)
|
rs755831714
|
|
|
NM_001458.5(FLNC):c.7260G>T (p.Gly2420=)
|
|
|
|
NM_001458.5(FLNC):c.7263C>G (p.Leu2421=)
|
rs2128940109
|
|
|
NM_001458.5(FLNC):c.726C>T (p.Asp242=)
|
|
|
|
NM_001458.5(FLNC):c.7278A>G (p.Pro2426=)
|
rs2128940114
|
|
|
NM_001458.5(FLNC):c.72G>A (p.Thr24=)
|
|
|
|
NM_001458.5(FLNC):c.7323T>A (p.Asp2441Glu)
|
rs752106552
|
|
|
NM_001458.5(FLNC):c.7326C>T (p.Ala2442=)
|
|
|
|
NM_001458.5(FLNC):c.7335C>T (p.His2445=)
|
|
|
|
NM_001458.5(FLNC):c.7343C>T (p.Ser2448Leu)
|
rs778500387
|
|
|
NM_001458.5(FLNC):c.7347G>A (p.Gly2449=)
|
rs2128940153
|
|
|
NM_001458.5(FLNC):c.7380C>T (p.Asp2460=)
|
rs1203087255
|
|
|
NM_001458.5(FLNC):c.7384+12C>G
|
|
|
|
NM_001458.5(FLNC):c.7384+12C>T
|
|
|
|
NM_001458.5(FLNC):c.7384+17C>G
|
rs2128940177
|
|
|
NM_001458.5(FLNC):c.7385-10T>C
|
rs1585171813
|
|
|
NM_001458.5(FLNC):c.7385-15A>C
|
|
|
|
NM_001458.5(FLNC):c.7385-4A>G
|
|
|
|
NM_001458.5(FLNC):c.7385-7T>C
|
|
|
|
NM_001458.5(FLNC):c.7388A>G (p.Lys2463Arg)
|
|
|
|
NM_001458.5(FLNC):c.7389G>A (p.Lys2463=)
|
rs2128940211
|
|
|
NM_001458.5(FLNC):c.7401C>T (p.Arg2467=)
|
|
|
|
NM_001458.5(FLNC):c.7411C>A (p.His2471Asn)
|
rs768896980
|
|
|
NM_001458.5(FLNC):c.7416G>A (p.Glu2472=)
|
rs1241565627
|
|
|
NM_001458.5(FLNC):c.7435G>A (p.Asp2479Asn)
|
|
|
|
NM_001458.5(FLNC):c.7440C>T (p.Val2480=)
|
rs1585171905
|
|
|
NM_001458.5(FLNC):c.7443G>A (p.Lys2481=)
|
rs1457672866
|
|
|
NM_001458.5(FLNC):c.7446C>T (p.Phe2482=)
|
|
|
|
NM_001458.5(FLNC):c.7459A>G (p.Ile2487Val)
|
|
|
|
NM_001458.5(FLNC):c.7483C>G (p.Arg2495Gly)
|
|
|
|
NM_001458.5(FLNC):c.7486G>A (p.Val2496Ile)
|
rs200295337
|
|
|
NM_001458.5(FLNC):c.7486G>C (p.Val2496Leu)
|
|
|
|
NM_001458.5(FLNC):c.7509G>A (p.Gly2503=)
|
|
|
|
NM_001458.5(FLNC):c.7539T>C (p.Pro2513=)
|
|
|
|
NM_001458.5(FLNC):c.7561+11G>A
|
|
|
|
NM_001458.5(FLNC):c.7561+14G>A
|
|
|
|
NM_001458.5(FLNC):c.7562-11C>G
|
|
|
|
NM_001458.5(FLNC):c.7575G>A (p.Glu2525=)
|
rs2128940338
|
|
|
NM_001458.5(FLNC):c.7581C>T (p.Ile2527=)
|
rs988685183
|
|
|
NM_001458.5(FLNC):c.7584G>A (p.Val2528=)
|
rs1809098607
|
|
|
NM_001458.5(FLNC):c.7587C>T (p.Asn2529=)
|
rs2128940345
|
|
|
NM_001458.5(FLNC):c.7590C>T (p.Thr2530=)
|
|
|
|
NM_001458.5(FLNC):c.7593G>A (p.Leu2531=)
|
|
|
|
NM_001458.5(FLNC):c.7626T>C (p.Ile2542=)
|
rs1554401890
|
|
|
NM_001458.5(FLNC):c.7632C>T (p.Gly2544=)
|
rs1297781614
|
|
|
NM_001458.5(FLNC):c.7635C>T (p.Pro2545=)
|
rs2128940367
|
|
|
NM_001458.5(FLNC):c.7648C>T (p.Leu2550=)
|
rs1585172378
|
|
|
NM_001458.5(FLNC):c.7653C>T (p.Asp2551=)
|
rs2128940372
|
|
|
NM_001458.5(FLNC):c.7656T>C (p.Cys2552=)
|
|
|
|
NM_001458.5(FLNC):c.7659G>C (p.Arg2553=)
|
rs1490653520
|
|
|
NM_001458.5(FLNC):c.7689T>C (p.Tyr2563=)
|
|
|
|
NM_001458.5(FLNC):c.7719T>C (p.Ile2573=)
|
|
|
|
NM_001458.5(FLNC):c.774C>G (p.Pro258=)
|
rs2128934181
|
|
|
NM_001458.5(FLNC):c.7752G>A (p.Val2584=)
|
rs1809108536
|
|
|
NM_001458.5(FLNC):c.7770C>A (p.Ala2590=)
|
rs2128940407
|
|
|
NM_001458.5(FLNC):c.7776C>T (p.Val2592=)
|
rs2128940410
|
|
|
NM_001458.5(FLNC):c.7780+11G>C
|
|
|
|
NM_001458.5(FLNC):c.7780+12T>C
|
rs1809110821
|
|
|
NM_001458.5(FLNC):c.7780+15G>C
|
rs1428983586
|
|
|
NM_001458.5(FLNC):c.7780+15G>T
|
|
|
|
NM_001458.5(FLNC):c.7780+16G>A
|
|
|
|
NM_001458.5(FLNC):c.7780+16G>C
|
|
|
|
NM_001458.5(FLNC):c.7780+19G>A
|
|
|
|
NM_001458.5(FLNC):c.7780+19G>T
|
|
|
|
NM_001458.5(FLNC):c.7781-12C>A
|
rs767606683
|
|
|
NM_001458.5(FLNC):c.7781-18C>T
|
|
|
|
NM_001458.5(FLNC):c.7781-4T>C
|
rs2128940565
|
|
|
NM_001458.5(FLNC):c.7782T>C (p.Gly2594=)
|
rs2128940567
|
|
|
NM_001458.5(FLNC):c.7791G>A (p.Leu2597=)
|
|
|
|
NM_001458.5(FLNC):c.7863G>A (p.Arg2621=)
|
|
|
|
NM_001458.5(FLNC):c.7866C>T (p.Gly2622=)
|
|
|
|
NM_001458.5(FLNC):c.7869C>T (p.Ser2623=)
|
|
|
|
NM_001458.5(FLNC):c.786C>G (p.Leu262=)
|
|
|
|
NM_001458.5(FLNC):c.7911G>A (p.Lys2637=)
|
|
|
|
NM_001458.5(FLNC):c.7917G>A (p.Val2639=)
|
|
|
|
NM_001458.5(FLNC):c.7929T>C (p.Pro2643=)
|
|
|
|
NM_001458.5(FLNC):c.7935G>A (p.Leu2645=)
|
rs754397217
|
|
|
NM_001458.5(FLNC):c.798C>T (p.Ala266=)
|
rs1350220887
|
|
|
NM_001458.5(FLNC):c.7990+10G>A
|
rs745488329
|
|
|
NM_001458.5(FLNC):c.7990+10G>C
|
rs745488329
|
|
|
NM_001458.5(FLNC):c.7990+12G>C
|
|
|
|
NM_001458.5(FLNC):c.7990+15del
|
rs755806046
|
|
|
NM_001458.5(FLNC):c.7990+19G>T
|
rs534098005
|
|
|
NM_001458.5(FLNC):c.7990+20C>T
|
rs1554402030
|
|
|
NM_001458.5(FLNC):c.7991-16C>T
|
|
|
|
NM_001458.5(FLNC):c.7991-17T>G
|
|
|
|
NM_001458.5(FLNC):c.7991-4C>G
|
rs1303400196
|
|
|
NM_001458.5(FLNC):c.7991-8C>T
|
|
|
|
NM_001458.5(FLNC):c.7995C>A (p.Thr2665=)
|
rs2128940644
|
|
|
NM_001458.5(FLNC):c.7998C>T (p.Asn2666=)
|
rs778253796
|
|
|
NM_001458.5(FLNC):c.8016G>A (p.Val2672=)
|
|
|
|
NM_001458.5(FLNC):c.8019C>T (p.His2673=)
|
rs112180788
|
|
|
NM_001458.5(FLNC):c.8025C>A (p.Pro2675=)
|
|
|
|
NM_001458.5(FLNC):c.8025C>G (p.Pro2675=)
|
|
|
|
NM_001458.5(FLNC):c.8028G>A (p.Lys2676=)
|
|
|
|
NM_001458.5(FLNC):c.8112C>T (p.Tyr2704=)
|
rs2128940695
|
|
|
NM_001458.5(FLNC):c.8118_8121delinsTATC (p.Leu2706_Ile2707=)
|
rs2128940705
|
|
|
NM_001458.5(FLNC):c.8169G>A (p.Lys2723=)
|
|
|
|
NM_001458.5(FLNC):c.816G>A (p.Gln272=)
|
|
|
|
NM_001458.5(FLNC):c.8175T>C (p.Pro2725=)
|
rs374175186
|
|
|
NM_001458.5(FLNC):c.825C>G (p.Pro275=)
|
|
|
|
NM_001458.5(FLNC):c.837C>A (p.Ile279=)
|
|
|
|
NM_001458.5(FLNC):c.843T>C (p.Tyr281=)
|
|
|
|
NM_001458.5(FLNC):c.84G>A (p.Leu28=)
|
rs372154508
|
|
|
NM_001458.5(FLNC):c.850+11G>A
|
|
|
|
NM_001458.5(FLNC):c.850+19C>A
|
rs776614185
|
|
|
NM_001458.5(FLNC):c.850+19C>T
|
|
|
|
NM_001458.5(FLNC):c.851-16T>C
|
|
|
|
NM_001458.5(FLNC):c.851-4G>A
|
rs372747855
|
|
|
NM_001458.5(FLNC):c.851-4G>C
|
rs372747855
|
|
|
NM_001458.5(FLNC):c.858G>A (p.Glu286=)
|
|
|
|
NM_001458.5(FLNC):c.864G>A (p.Gln288=)
|
|
|
|
NM_001458.5(FLNC):c.867C>G (p.Gly289=)
|
rs775809908
|
|
|
NM_001458.5(FLNC):c.873C>T (p.Thr291=)
|
rs749823519
|
|
|
NM_001458.5(FLNC):c.882G>A (p.Gln294=)
|
rs1220464040
|
|
|
NM_001458.5(FLNC):c.891C>T (p.His297=)
|
|
|
|
NM_001458.5(FLNC):c.909G>A (p.Val303=)
|
|
|
|
NM_001458.5(FLNC):c.915G>A (p.Ala305=)
|
|
|
|
NM_001458.5(FLNC):c.936C>T (p.Val312=)
|
rs1228125281
|
|
|
NM_001458.5(FLNC):c.969+10G>A
|
rs953416778
|
|
|
NM_001458.5(FLNC):c.969+12C>T
|
|
|
|
NM_001458.5(FLNC):c.969+13C>A
|
|
|
|
NM_001458.5(FLNC):c.969+14G>A
|
rs765545958
|
|
|
NM_001458.5(FLNC):c.969+14G>T
|
rs765545958
|
|
|
NM_001458.5(FLNC):c.969+17G>A
|
|
|
|
NM_001458.5(FLNC):c.970-15T>C
|
rs751554946
|
|
|
NM_001458.5(FLNC):c.970-18C>T
|
|
|
|
NM_001458.5(FLNC):c.975G>A (p.Lys325=)
|
|
|
|
NM_001458.5(FLNC):c.978G>A (p.Val326=)
|
|
|
|
NM_001927.4(DES):c.1023+10T>C
|
|
|
|
NM_001927.4(DES):c.1023+11G>A
|
|
|
|
NM_001927.4(DES):c.1024-10del
|
|
|
|
NM_001927.4(DES):c.1024-11C>T
|
rs566280820
|
|
|
NM_001927.4(DES):c.1024-14C>T
|
rs1954436833
|
|
|
NM_001927.4(DES):c.1024-17T>C
|
rs756252550
|
|
|
NM_001927.4(DES):c.1024-17T>G
|
rs756252550
|
|
|
NM_001927.4(DES):c.1024-18G>T
|
rs1272088858
|
|
|
NM_001927.4(DES):c.1024-7C>T
|
rs779098835
|
|
|
NM_001927.4(DES):c.1035G>A (p.Leu345=)
|
|
|
|
NM_001927.4(DES):c.1041G>A (p.Arg347=)
|
rs2125168616
|
|
|
NM_001927.4(DES):c.1059G>A (p.Glu353=)
|
rs1575014856
|
|
|
NM_001927.4(DES):c.1062C>T (p.Asp354=)
|
|
|
|
NM_001927.4(DES):c.1101T>C (p.Ile367=)
|
rs1575014904
|
|
|
NM_001927.4(DES):c.1122C>A (p.Ile374=)
|
|
|
|
NM_001927.4(DES):c.1134G>A (p.Lys378=)
|
rs1575014950
|
|
|
NM_001927.4(DES):c.1146C>T (p.Ala382=)
|
|
|
|
NM_001927.4(DES):c.114G>T (p.Ala38=)
|
rs368901105
|
|
|
NM_001927.4(DES):c.1185G>A (p.Lys395=)
|
rs1386068029
|
|
|
NM_001927.4(DES):c.1218G>C (p.Arg406=)
|
|
|
|
NM_001927.4(DES):c.1224G>A (p.Leu408=)
|
rs1454100254
|
|
|
NM_001927.4(DES):c.1227G>T (p.Leu409=)
|
rs143954788
|
|
|
NM_001927.4(DES):c.123C>T (p.Gly41=)
|
rs1575013025
|
|
|
NM_001927.4(DES):c.1244+12G>T
|
|
|
|
NM_001927.4(DES):c.1244+17G>A
|
|
|
|
NM_001927.4(DES):c.1244+17G>C
|
rs750992468
|
|
|
NM_001927.4(DES):c.1244+20C>T
|
rs1205670028
|
|
|
NM_001927.4(DES):c.1244+8G>A
|
|
|
|
NM_001927.4(DES):c.1245-11T>C
|
|
|
|
NM_001927.4(DES):c.1245-7C>G
|
|
|
|
NM_001927.4(DES):c.1266C>A (p.Thr422=)
|
rs1954487738
|
|
|
NM_001927.4(DES):c.1269C>T (p.Tyr423=)
|
rs765867148
|
|
|
NM_001927.4(DES):c.1281C>T (p.Asn427=)
|
rs17853018
|
|
|
NM_001927.4(DES):c.1288+11G>A
|
rs2125170600
|
|
|
NM_001927.4(DES):c.1288+14G>A
|
|
|
|
NM_001927.4(DES):c.1289-11C>A
|
|
|
|
NM_001927.4(DES):c.1289-11C>T
|
|
|
|
NM_001927.4(DES):c.1289-17G>A
|
|
|
|
NM_001927.4(DES):c.1289-19G>A
|
|
|
|
NM_001927.4(DES):c.1289-19G>T
|
rs2125171911
|
|
|
NM_001927.4(DES):c.1289-9C>T
|
|
|
|
NM_001927.4(DES):c.1293C>T (p.Thr431=)
|
rs2125171932
|
|
|
NM_001927.4(DES):c.12C>G (p.Ala4=)
|
rs762566962
|
|
|
NM_001927.4(DES):c.1317G>A (p.Glu439=)
|
rs1575016807
|
|
|
NM_001927.4(DES):c.1350C>G (p.Thr450=)
|
|
|
|
NM_001927.4(DES):c.1359A>C (p.Thr453=)
|
rs1397831288
|
|
|
NM_001927.4(DES):c.1359A>T (p.Thr453=)
|
|
|
|
NM_001927.4(DES):c.1368G>A (p.Gly456=)
|
rs962437326
|
|
|
NM_001927.4(DES):c.1371+13T>G
|
rs2125172082
|
|
|
NM_001927.4(DES):c.1372-15T>A
|
rs202245617
|
|
|
NM_001927.4(DES):c.1372-3dup
|
rs876657769
|
|
|
NM_001927.4(DES):c.1372-6C>T
|
|
|
|
NM_001927.4(DES):c.1372-7T>C
|
rs889499879
|
|
|
NM_001927.4(DES):c.1372-8C>T
|
rs794727968
|
|
|
NM_001927.4(DES):c.1374C>T (p.Val458=)
|
rs727502952
|
|
|
NM_001927.4(DES):c.1383G>A (p.Glu461=)
|
rs2125172248
|
|
|
NM_001927.4(DES):c.138C>A (p.Ser46=)
|
|
|
|
NM_001927.4(DES):c.1404A>G (p.Glu468=)
|
rs397516691
|
|
|
NM_001927.4(DES):c.156C>T (p.Arg52=)
|
|
|
|
NM_001927.4(DES):c.171G>T (p.Ser57=)
|
|
|
|
NM_001927.4(DES):c.186G>T (p.Gly62=)
|
rs1276880158
|
|
|
NM_001927.4(DES):c.195C>T (p.Gly65=)
|
rs1256584430
|
|
|
NM_001927.4(DES):c.205C>T (p.Leu69=)
|
rs2125166013
|
|
|
NM_001927.4(DES):c.210G>A (p.Arg70=)
|
rs761255472
|
|
|
NM_001927.4(DES):c.210G>C (p.Arg70=)
|
rs761255472
|
|
|
NM_001927.4(DES):c.213C>T (p.Ala71=)
|
|
|
|
NM_001927.4(DES):c.219G>A (p.Arg73=)
|
|
|
|
NM_001927.4(DES):c.228C>G (p.Thr76=)
|
rs780233346
|
|
|
NM_001927.4(DES):c.228C>T (p.Thr76=)
|
|
|
|
NM_001927.4(DES):c.240C>T (p.Pro80=)
|
|
|
|
NM_001927.4(DES):c.246C>G (p.Ser82=)
|
|
|
|
NM_001927.4(DES):c.249C>T (p.Tyr83=)
|
rs2125166116
|
|
|
NM_001927.4(DES):c.252C>T (p.Gly84=)
|
|
|
|
NM_001927.4(DES):c.258C>A (p.Gly86=)
|
rs994454109
|
|
|
NM_001927.4(DES):c.258C>T (p.Gly86=)
|
rs994454109
|
|
|
NM_001927.4(DES):c.264G>C (p.Leu88=)
|
|
|
|
NM_001927.4(DES):c.285C>T (p.Asp95=)
|
rs562875165
|
|
|
NM_001927.4(DES):c.294C>T (p.Asn98=)
|
|
|
|
NM_001927.4(DES):c.306G>A (p.Leu102=)
|
rs2125166197
|
|
|
NM_001927.4(DES):c.309C>T (p.Thr103=)
|
|
|
|
NM_001927.4(DES):c.30C>T (p.Arg10=)
|
rs886042179
|
|
|
NM_001927.4(DES):c.312G>T (p.Thr104=)
|
|
|
|
NM_001927.4(DES):c.339G>A (p.Gln113=)
|
|
|
|
NM_001927.4(DES):c.345C>G (p.Leu115=)
|
|
|
|
NM_001927.4(DES):c.354C>G (p.Arg118=)
|
|
|
|
NM_001927.4(DES):c.360C>T (p.Ala120=)
|
rs1553603246
|
|
|
NM_001927.4(DES):c.36C>T (p.Ser12=)
|
|
|
|
NM_001927.4(DES):c.399C>T (p.Asn133=)
|
|
|
|
NM_001927.4(DES):c.404C>T (p.Ala135Val)
|
rs546741834
|
|
|
NM_001927.4(DES):c.405G>A (p.Ala135=)
|
rs1344076921
|
|
|
NM_001927.4(DES):c.408C>A (p.Leu136=)
|
rs111828114
|
|
|
NM_001927.4(DES):c.411C>T (p.Ala137=)
|
rs549278754
|
|
|
NM_001927.4(DES):c.423C>T (p.Asn141=)
|
rs1954375978
|
|
|
NM_001927.4(DES):c.435C>T (p.Gly145=)
|
|
|
|
NM_001927.4(DES):c.438C>T (p.Arg146=)
|
|
|
|
NM_001927.4(DES):c.444G>A (p.Pro148=)
|
rs767505861
|
|
|
NM_001927.4(DES):c.447G>C (p.Thr149=)
|
rs1575013396
|
|
|
NM_001927.4(DES):c.456C>G (p.Ala152=)
|
|
|
|
NM_001927.4(DES):c.456C>T (p.Ala152=)
|
|
|
|
NM_001927.4(DES):c.45C>T (p.Arg15=)
|
rs1575012917
|
|
|
NM_001927.4(DES):c.462C>T (p.Leu154=)
|
|
|
|
NM_001927.4(DES):c.465C>T (p.Tyr155=)
|
rs1458306248
|
|
|
NM_001927.4(DES):c.477G>A (p.Leu159=)
|
rs1423370718
|
|
|
NM_001927.4(DES):c.480G>A (p.Arg160=)
|
|
|
|
NM_001927.4(DES):c.519C>A (p.Arg173=)
|
rs758686466
|
|
|
NM_001927.4(DES):c.525C>A (p.Arg175=)
|
rs1477068739
|
|
|
NM_001927.4(DES):c.528C>G (p.Val176=)
|
rs1057522906
|
|
|
NM_001927.4(DES):c.528C>T (p.Val176=)
|
rs1057522906
|
|
|
NM_001927.4(DES):c.543C>T (p.Asp181=)
|
rs1954382613
|
|
|
NM_001927.4(DES):c.567G>A (p.Arg189=)
|
|
|
|
NM_001927.4(DES):c.570C>G (p.Leu190=)
|
|
|
|
NM_001927.4(DES):c.578+10C>T
|
rs969392028
|
|
|
NM_001927.4(DES):c.579-15G>C
|
|
|
|
NM_001927.4(DES):c.579-5C>A
|
rs886042889
|
|
|
NM_001927.4(DES):c.591G>A (p.Glu197=)
|
rs1440985603
|
|
|
NM_001927.4(DES):c.594T>C (p.Ile198=)
|
|
|
|
NM_001927.4(DES):c.600G>A (p.Leu200=)
|
rs1575014014
|
|
|
NM_001927.4(DES):c.615G>A (p.Glu205=)
|
rs1295010624
|
|
|
NM_001927.4(DES):c.622T>C (p.Leu208=)
|
rs764389526
|
|
|
NM_001927.4(DES):c.639+13_639+15del
|
rs876657448
|
|
|
NM_001927.4(DES):c.639+16T>C
|
|
|
|
NM_001927.4(DES):c.639+17T>G
|
rs1954407967
|
|
|
NM_001927.4(DES):c.640-14T>C
|
|
|
|
NM_001927.4(DES):c.640-15C>A
|
|
|
|
NM_001927.4(DES):c.678G>A (p.Glu226=)
|
|
|
|
NM_001927.4(DES):c.681C>T (p.Arg227=)
|
|
|
|
NM_001927.4(DES):c.696C>T (p.Leu232=)
|
rs2125167618
|
|
|
NM_001927.4(DES):c.705G>A (p.Glu235=)
|
rs370836572
|
|
|
NM_001927.4(DES):c.711G>A (p.Ala237=)
|
rs757102249
|
|
|
NM_001927.4(DES):c.729T>C (p.His243=)
|
rs949090924
|
|
|
NM_001927.4(DES):c.735+10G>A
|
rs774435644
|
|
|
NM_001927.4(DES):c.735+10G>T
|
rs774435644
|
|
|
NM_001927.4(DES):c.735+11G>A
|
rs1559352868
|
|
|
NM_001927.4(DES):c.735+15C>T
|
|
|
|
NM_001927.4(DES):c.735+8T>C
|
|
|
|
NM_001927.4(DES):c.735+9T>C
|
|
|
|
NM_001927.4(DES):c.736-12C>G
|
|
|
|
NM_001927.4(DES):c.736-8C>T
|
|
|
|
NM_001927.4(DES):c.736-9G>A
|
rs1553603433
|
|
|
NM_001927.4(DES):c.75A>T (p.Pro25=)
|
rs1318299
|
|
|
NM_001927.4(DES):c.78C>G (p.Leu26=)
|
rs1252527107
|
|
|
NM_001927.4(DES):c.807C>T (p.Asp269=)
|
|
|
|
NM_001927.4(DES):c.834G>C (p.Arg278=)
|
|
|
|
NM_001927.4(DES):c.840G>A (p.Gln280=)
|
rs1954420895
|
|
|
NM_001927.4(DES):c.852C>T (p.Ile284=)
|
|
|
|
NM_001927.4(DES):c.858T>C (p.Ala286=)
|
rs2125167964
|
|
|
NM_001927.4(DES):c.876T>C (p.Ala292=)
|
|
|
|
NM_001927.4(DES):c.87G>T (p.Pro29=)
|
rs2125165803
|
|
|
NM_001927.4(DES):c.88C>T (p.Leu30=)
|
|
|
|
NM_001927.4(DES):c.891G>A (p.Lys297=)
|
|
|
|
NM_001927.4(DES):c.897+10C>T
|
rs2125168018
|
|
|
NM_001927.4(DES):c.897+15C>T
|
|
|
|
NM_001927.4(DES):c.897+16C>A
|
|
|
|
NM_001927.4(DES):c.897+17G>T
|
|
|
|
NM_001927.4(DES):c.897+19_897+20del
|
|
|
|
NM_001927.4(DES):c.897+20G>A
|
|
|
|
NM_001927.4(DES):c.897+8G>T
|
rs1057520465
|
|
|
NM_001927.4(DES):c.898-13T>C
|
|
|
|
NM_001927.4(DES):c.898-16C>T
|
rs1490911520
|
|
|
NM_001927.4(DES):c.898-17C>T
|
|
|
|
NM_001927.4(DES):c.898-18C>T
|
rs1954425409
|
|
|
NM_001927.4(DES):c.898-19C>A
|
|
|
|
NM_001927.4(DES):c.898-19C>T
|
|
|
|
NM_001927.4(DES):c.898-20G>T
|
|
|
|
NM_001927.4(DES):c.898-6C>T
|
rs2125168127
|
|
|
NM_001927.4(DES):c.898-7C>A
|
|
|
|
NM_001927.4(DES):c.912C>A (p.Thr304=)
|
rs778826152
|
|
|
NM_001927.4(DES):c.939C>T (p.Ala313=)
|
rs1060504848
|
|
|
NM_001927.4(DES):c.975A>G (p.Arg325=)
|
rs1575014604
|
|
|
NM_001927.4(DES):c.978C>T (p.His326=)
|
|
|
|
NM_001927.4(DES):c.987G>A (p.Gln329=)
|
|
|
|
NM_001927.4(DES):c.9G>A (p.Gln3=)
|
|
|
|
NM_001943.5(DSG2):c.1014+11A>G
|
|
|
|
NM_001943.5(DSG2):c.1014+12G>C
|
|
|
|
NM_001943.5(DSG2):c.1014+15T>G
|
|
|
|
NM_001943.5(DSG2):c.1014+18A>G
|
|
|
|
NM_001943.5(DSG2):c.1015-19C>T
|
|
|
|
NM_001943.5(DSG2):c.1026T>C (p.Tyr342=)
|
|
|
|
NM_001943.5(DSG2):c.1038G>A (p.Lys346=)
|
rs1555627111
|
|
|
NM_001943.5(DSG2):c.1047C>T (p.Asp349=)
|
rs1598816361
|
|
|
NM_001943.5(DSG2):c.1062C>T (p.Val354=)
|
rs369233023
|
|
|
NM_001943.5(DSG2):c.111G>C (p.Leu37=)
|
rs1568104775
|
|
|
NM_001943.5(DSG2):c.111G>T (p.Leu37=)
|
|
|
|
NM_001943.5(DSG2):c.1146G>A (p.Val382=)
|
|
|
|
NM_001943.5(DSG2):c.1164T>C (p.Phe388=)
|
rs1232189892
|
|
|
NM_001943.5(DSG2):c.1188T>C (p.Tyr396=)
|
rs751783277
|
|
|
NM_001943.5(DSG2):c.1206T>C (p.Asp402=)
|
rs2144333016
|
|
|
NM_001943.5(DSG2):c.1242A>G (p.Gln414=)
|
|
|
|
NM_001943.5(DSG2):c.1243G>A (p.Ala415Thr)
|
rs746645151
|
|
|
NM_001943.5(DSG2):c.1245T>C (p.Ala415=)
|
rs2144333101
|
|
|
NM_001943.5(DSG2):c.1248T>C (p.Phe416=)
|
rs2144333112
|
|
|
NM_001943.5(DSG2):c.1263A>C (p.Gly421=)
|
|
|
|
NM_001943.5(DSG2):c.1266A>G (p.Leu422=)
|
rs770359142
|
|
|
NM_001943.5(DSG2):c.1280+15C>T
|
|
|
|
NM_001943.5(DSG2):c.1280+15del
|
|
|
|
NM_001943.5(DSG2):c.1280+18G>A
|
|
|
|
NM_001943.5(DSG2):c.1280+4AG[3]
|
rs876657791
|
|
|
NM_001943.5(DSG2):c.1280+9G>A
|
|
|
|
NM_001943.5(DSG2):c.1281-16G>A
|
|
|
|
NM_001943.5(DSG2):c.1281-5G>T
|
rs1280409009
|
|
|
NM_001943.5(DSG2):c.1281-7A>G
|
rs1598818943
|
|
|
NM_001943.5(DSG2):c.12C>T (p.Ser4=)
|
|
|
|
NM_001943.5(DSG2):c.1317T>C (p.Ser439=)
|
rs727505064
|
|
|
NM_001943.5(DSG2):c.1377T>C (p.Tyr459=)
|
|
|
|
NM_001943.5(DSG2):c.138G>T (p.Arg46=)
|
rs2073117347
|
|
|
NM_001943.5(DSG2):c.1424-10T>C
|
|
|
|
NM_001943.5(DSG2):c.1452A>G (p.Thr484=)
|
rs2144341392
|
|
|
NM_001943.5(DSG2):c.1455C>T (p.Val485=)
|
rs2073229259
|
|
|
NM_001943.5(DSG2):c.1515A>C (p.Thr505=)
|
|
|
|
NM_001943.5(DSG2):c.1539G>C (p.Val513=)
|
rs2144341713
|
|
|
NM_001943.5(DSG2):c.1554G>A (p.Glu518=)
|
rs2144341754
|
|
|
NM_001943.5(DSG2):c.156C>T (p.Ile52=)
|
|
|
|
NM_001943.5(DSG2):c.1617C>T (p.Gly539=)
|
|
|
|
NM_001943.5(DSG2):c.1623A>G (p.Ala541=)
|
|
|
|
NM_001943.5(DSG2):c.162C>T (p.Ala54=)
|
rs2144314166
|
|
|
NM_001943.5(DSG2):c.1652-19C>A
|
rs2073247158
|
|
|
NM_001943.5(DSG2):c.1652-9A>C
|
rs2144346411
|
|
|
NM_001943.5(DSG2):c.1686G>A (p.Lys562=)
|
|
|
|
NM_001943.5(DSG2):c.1737T>C (p.Ser579=)
|
|
|
|
NM_001943.5(DSG2):c.1752G>A (p.Gln584=)
|
|
|
|
NM_001943.5(DSG2):c.1755C>G (p.Val585=)
|
rs1273719218
|
|
|
NM_001943.5(DSG2):c.177G>A (p.Arg59=)
|
rs1568104857
|
|
|
NM_001943.5(DSG2):c.180G>A (p.Glu60=)
|
|
|
|
NM_001943.5(DSG2):c.1848G>A (p.Ala616=)
|
rs372349945
|
|
|
NM_001943.5(DSG2):c.1848G>C (p.Ala616=)
|
rs372349945
|
|
|
NM_001943.5(DSG2):c.1848G>T (p.Ala616=)
|
rs372349945
|
|
|
NM_001943.5(DSG2):c.1851C>G (p.Leu617=)
|
|
|
|
NM_001943.5(DSG2):c.1879+16_1879+26del
|
rs2073249922
|
|
|
NM_001943.5(DSG2):c.1879+17C>A
|
rs2144347091
|
|
|
NM_001943.5(DSG2):c.1879+19C>G
|
|
|
|
NM_001943.5(DSG2):c.1879+19C>T
|
|
|
|
NM_001943.5(DSG2):c.1880-10G>A
|
rs2144350506
|
|
|
NM_001943.5(DSG2):c.1932T>C (p.Phe644=)
|
rs2073265410
|
|
|
NM_001943.5(DSG2):c.195C>T (p.Ser65=)
|
rs2144314326
|
|
|
NM_001943.5(DSG2):c.1983A>C (p.Gly661=)
|
rs1419115728
|
|
|
NM_001943.5(DSG2):c.1986A>G (p.Ala662=)
|
rs1598823030
|
|
|
NM_001943.5(DSG2):c.1995A>G (p.Glu665=)
|
rs2144350890
|
|
|
NM_001943.5(DSG2):c.1998C>T (p.Asp666=)
|
rs1012080257
|
|
|
NM_001943.5(DSG2):c.2001+20A>C
|
|
|
|
NM_001943.5(DSG2):c.2001+9A>G
|
rs770547224
|
|
|
NM_001943.5(DSG2):c.2002-7C>G
|
rs1415718078
|
|
|
NM_001943.5(DSG2):c.2004G>T (p.Val668=)
|
|
|
|
NM_001943.5(DSG2):c.2007G>A (p.Val669=)
|
rs2073274655
|
|
|
NM_001943.5(DSG2):c.2040T>C (p.Ser680=)
|
|
|
|
NM_001943.5(DSG2):c.2085G>C (p.Thr695=)
|
rs554396523
|
|
|
NM_001943.5(DSG2):c.210T>C (p.Ile70=)
|
rs202202636
|
|
|
NM_001943.5(DSG2):c.2124A>G (p.Gln708=)
|
|
|
|
NM_001943.5(DSG2):c.2127T>C (p.His709=)
|
rs876657457
|
|
|
NM_001943.5(DSG2):c.216+19C>A
|
|
|
|
NM_001943.5(DSG2):c.216+20A>G
|
|
|
|
NM_001943.5(DSG2):c.2169C>T (p.Ser723=)
|
rs2073276369
|
|
|
NM_001943.5(DSG2):c.217-19C>T
|
|
|
|
NM_001943.5(DSG2):c.217-7A>G
|
rs755415569
|
|
|
NM_001943.5(DSG2):c.217-7_217-6del
|
|
|
|
NM_001943.5(DSG2):c.2172G>A (p.Leu724=)
|
rs1230504092
|
|
|
NM_001943.5(DSG2):c.2178T>C (p.Ser726=)
|
rs749897373
|
|
|
NM_001943.5(DSG2):c.2181T>C (p.Gly727=)
|
|
|
|
NM_001943.5(DSG2):c.2235G>A (p.Thr745=)
|
rs759572082
|
|
|
NM_001943.5(DSG2):c.2235G>T (p.Thr745=)
|
|
|
|
NM_001943.5(DSG2):c.2268C>T (p.Asp756=)
|
|
|
|
NM_001943.5(DSG2):c.2289T>C (p.Ala763=)
|
rs2144353689
|
|
|
NM_001943.5(DSG2):c.228T>C (p.Asp76=)
|
|
|
|
NM_001943.5(DSG2):c.2295T>G (p.Val765=)
|
rs2144353723
|
|
|
NM_001943.5(DSG2):c.2298A>C (p.Ala766=)
|
rs2144353732
|
|
|
NM_001943.5(DSG2):c.2334+10_2334+11del
|
|
|
|
NM_001943.5(DSG2):c.2334+11G>A
|
|
|
|
NM_001943.5(DSG2):c.2334+8T>C
|
rs2144353870
|
|
|
NM_001943.5(DSG2):c.2335-19T>C
|
|
|
|
NM_001943.5(DSG2):c.2340G>A (p.Ala780=)
|
rs375539435
|
|
|
NM_001943.5(DSG2):c.2343C>G (p.Ala781=)
|
|
|
|
NM_001943.5(DSG2):c.2361T>C (p.Asp787=)
|
rs1486707230
|
|
|
NM_001943.5(DSG2):c.2373A>G (p.Thr791=)
|
rs2073300563
|
|
|
NM_001943.5(DSG2):c.2376C>G (p.Ala792=)
|
|
|
|
NM_001943.5(DSG2):c.2382T>C (p.Asp794=)
|
rs2144358730
|
|
|
NM_001943.5(DSG2):c.2415A>G (p.Glu805=)
|
|
|
|
NM_001943.5(DSG2):c.2418G>T (p.Ser806=)
|
rs751831001
|
|
|
NM_001943.5(DSG2):c.2419C>T (p.Leu807=)
|
rs201416898
|
|
|
NM_001943.5(DSG2):c.2430T>C (p.Ser810=)
|
rs781616050
|
|
|
NM_001943.5(DSG2):c.2472C>T (p.Arg824=)
|
rs2073302212
|
|
|
NM_001943.5(DSG2):c.2592C>T (p.Asn864=)
|
|
|
|
NM_001943.5(DSG2):c.2619A>G (p.Gln873=)
|
rs757120095
|
|
|
NM_001943.5(DSG2):c.2712G>A (p.Gln904=)
|
rs779837813
|
|
|
NM_001943.5(DSG2):c.2730A>G (p.Arg910=)
|
|
|
|
NM_001943.5(DSG2):c.2739T>A (p.Ser913=)
|
rs2144360064
|
|
|
NM_001943.5(DSG2):c.2766A>C (p.Thr922=)
|
rs1347885484
|
|
|
NM_001943.5(DSG2):c.2799G>T (p.Val933=)
|
|
|
|
NM_001943.5(DSG2):c.2856C>T (p.Ile952=)
|
|
|
|
NM_001943.5(DSG2):c.2868C>T (p.Ser956=)
|
rs2144360449
|
|
|
NM_001943.5(DSG2):c.2898G>A (p.Arg966=)
|
rs746543384
|
|
|
NM_001943.5(DSG2):c.2919C>G (p.Thr973=)
|
|
|
|
NM_001943.5(DSG2):c.291A>C (p.Pro97=)
|
rs727502983
|
|
|
NM_001943.5(DSG2):c.2949T>G (p.Gly983=)
|
rs921097993
|
|
|
NM_001943.5(DSG2):c.2955T>C (p.Val985=)
|
|
|
|
NM_001943.5(DSG2):c.2979G>A (p.Gln993=)
|
|
|
|
NM_001943.5(DSG2):c.2988G>C (p.Gly996=)
|
rs1322460685
|
|
|
NM_001943.5(DSG2):c.2988G>T (p.Gly996=)
|
|
|
|
NM_001943.5(DSG2):c.3004C>T (p.Leu1002=)
|
rs377658424
|
|
|
NM_001943.5(DSG2):c.3009A>G (p.Glu1003=)
|
rs2144361036
|
|
|
NM_001943.5(DSG2):c.3030T>C (p.Asp1010=)
|
|
|
|
NM_001943.5(DSG2):c.3033A>G (p.Val1011=)
|
rs2144361116
|
|
|
NM_001943.5(DSG2):c.3048G>A (p.Val1016=)
|
|
|
|
NM_001943.5(DSG2):c.3066C>T (p.Phe1022=)
|
|
|
|
NM_001943.5(DSG2):c.30C>A (p.Ala10=)
|
rs1568098547
|
|
|
NM_001943.5(DSG2):c.3138G>T (p.Val1046=)
|
rs2144361501
|
|
|
NM_001943.5(DSG2):c.3147A>G (p.Arg1049=)
|
rs973445903
|
|
|
NM_001943.5(DSG2):c.3165C>T (p.Ser1055=)
|
rs2144361600
|
|
|
NM_001943.5(DSG2):c.3174A>G (p.Gln1058=)
|
rs2073312645
|
|
|
NM_001943.5(DSG2):c.3175T>A (p.Ser1059Thr)
|
rs201786158
|
|
|
NM_001943.5(DSG2):c.3198A>G (p.Glu1066=)
|
rs727504601
|
|
|
NM_001943.5(DSG2):c.3210G>T (p.Thr1070=)
|
rs771104963
|
|
|
NM_001943.5(DSG2):c.3222C>T (p.Thr1074=)
|
|
|
|
NM_001943.5(DSG2):c.3281G>T (p.Gly1094Val)
|
|
|
|
NM_001943.5(DSG2):c.3294T>C (p.Ser1098=)
|
|
|
|
NM_001943.5(DSG2):c.3306A>G (p.Thr1102=)
|
rs747930194
|
|
|
NM_001943.5(DSG2):c.3330T>C (p.His1110=)
|
|
|
|
NM_001943.5(DSG2):c.3333C>T (p.Ser1111=)
|
|
|
|
NM_001943.5(DSG2):c.3336T>A (p.Thr1112=)
|
|
|
|
NM_001943.5(DSG2):c.3336T>G (p.Thr1112=)
|
rs1555628388
|
|
|
NM_001943.5(DSG2):c.33G>C (p.Leu11=)
|
|
|
|
NM_001943.5(DSG2):c.369A>G (p.Pro123=)
|
rs2144315797
|
|
|
NM_001943.5(DSG2):c.378+16T>C
|
|
|
|
NM_001943.5(DSG2):c.378+8_378+10del
|
rs2144315812
|
|
|
NM_001943.5(DSG2):c.379-10A>G
|
|
|
|
NM_001943.5(DSG2):c.379-18T>C
|
|
|
|
NM_001943.5(DSG2):c.379-20T>A
|
|
|
|
NM_001943.5(DSG2):c.379-22_379-18del
|
rs1598810622
|
|
|
NM_001943.5(DSG2):c.379-6T>C
|
|
|
|
NM_001943.5(DSG2):c.384A>G (p.Thr128=)
|
rs561929524
|
|
|
NM_001943.5(DSG2):c.39T>G (p.Leu13=)
|
|
|
|
NM_001943.5(DSG2):c.426C>A (p.Pro142=)
|
|
|
|
NM_001943.5(DSG2):c.426C>T (p.Pro142=)
|
rs772873493
|
|
|
NM_001943.5(DSG2):c.429A>G (p.Leu143=)
|
|
|
|
NM_001943.5(DSG2):c.42C>T (p.Leu14=)
|
rs1555669691
|
|
|
NM_001943.5(DSG2):c.444G>A (p.Lys148=)
|
rs935833101
|
|
|
NM_001943.5(DSG2):c.45+10G>A
|
rs776975980
|
|
|
NM_001943.5(DSG2):c.45+10G>T
|
rs776975980
|
|
|
NM_001943.5(DSG2):c.45+15del
|
|
|
|
NM_001943.5(DSG2):c.45+18G>A
|
|
|
|
NM_001943.5(DSG2):c.45+8C>T
|
|
|
|
NM_001943.5(DSG2):c.45+9C>T
|
rs376573409
|
|
|
NM_001943.5(DSG2):c.456C>T (p.Ile152=)
|
rs2144316237
|
|
|
NM_001943.5(DSG2):c.46-12T>A
|
|
|
|
NM_001943.5(DSG2):c.46-14A>C
|
|
|
|
NM_001943.5(DSG2):c.46-9A>G
|
rs2144311516
|
|
|
NM_001943.5(DSG2):c.468A>G (p.Glu156=)
|
|
|
|
NM_001943.5(DSG2):c.471A>G (p.Pro157=)
|
|
|
|
NM_001943.5(DSG2):c.486T>A (p.Asp162Glu)
|
rs756239722
|
|
|
NM_001943.5(DSG2):c.486T>C (p.Asp162=)
|
|
|
|
NM_001943.5(DSG2):c.501T>C (p.Ser167=)
|
rs2144316408
|
|
|
NM_001943.5(DSG2):c.523+19T>A
|
|
|
|
NM_001943.5(DSG2):c.523+9del
|
|
|
|
NM_001943.5(DSG2):c.524-13T>C
|
|
|
|
NM_001943.5(DSG2):c.524-16T>G
|
|
|
|
NM_001943.5(DSG2):c.524-18C>T
|
|
|
|
NM_001943.5(DSG2):c.524-4C>T
|
|
|
|
NM_001943.5(DSG2):c.524-8A>C
|
|
|
|
NM_001943.5(DSG2):c.558A>G (p.Ala186=)
|
|
|
|
NM_001943.5(DSG2):c.573C>G (p.Thr191=)
|
rs769514389
|
|
|
NM_001943.5(DSG2):c.576G>C (p.Leu192=)
|
|
|
|
NM_001943.5(DSG2):c.603A>G (p.Val201=)
|
|
|
|
NM_001943.5(DSG2):c.60T>C (p.Val20=)
|
rs1173265371
|
|
|
NM_001943.5(DSG2):c.618T>A (p.Ala206=)
|
rs397516710
|
|
|
NM_001943.5(DSG2):c.621T>C (p.Tyr207=)
|
rs2144317974
|
|
|
NM_001943.5(DSG2):c.624T>A (p.Pro208=)
|
rs1275487240
|
|
|
NM_001943.5(DSG2):c.678C>G (p.Thr226=)
|
|
|
|
NM_001943.5(DSG2):c.690+14T>C
|
rs2144318223
|
|
|
NM_001943.5(DSG2):c.690+17T>C
|
|
|
|
NM_001943.5(DSG2):c.690+8A>G
|
rs755863179
|
|
|
NM_001943.5(DSG2):c.691-12A>G
|
|
|
|
NM_001943.5(DSG2):c.691-7_691-3del
|
rs757242261
|
|
|
NM_001943.5(DSG2):c.691-8C>T
|
rs2144321935
|
|
|
NM_001943.5(DSG2):c.696C>T (p.His232=)
|
|
|
|
NM_001943.5(DSG2):c.759A>G (p.Val253=)
|
|
|
|
NM_001943.5(DSG2):c.76T>C (p.Leu26=)
|
|
|
|
NM_001943.5(DSG2):c.78A>G (p.Leu26=)
|
rs2073105327
|
|
|
NM_001943.5(DSG2):c.81+10C>G
|
|
|
|
NM_001943.5(DSG2):c.81+13A>G
|
|
|
|
NM_001943.5(DSG2):c.81+14G>A
|
|
|
|
NM_001943.5(DSG2):c.81+15G>A
|
|
|
|
NM_001943.5(DSG2):c.81+8_81+9insGGC
|
|
|
|
NM_001943.5(DSG2):c.81+9A>G
|
|
|
|
NM_001943.5(DSG2):c.813A>T (p.Val271=)
|
|
|
|
NM_001943.5(DSG2):c.816A>G (p.Val272=)
|
|
|
|
NM_001943.5(DSG2):c.82-4A>G
|
rs1332379061
|
|
|
NM_001943.5(DSG2):c.82-8T>C
|
rs2144313844
|
|
|
NM_001943.5(DSG2):c.828+10A>C
|
rs886053712
|
|
|
NM_001943.5(DSG2):c.828+13C>A
|
rs180926981
|
|
|
NM_001943.5(DSG2):c.828+13C>T
|
rs180926981
|
|
|
NM_001943.5(DSG2):c.828+14T>C
|
|
|
|
NM_001943.5(DSG2):c.828+16C>G
|
|
|
|
NM_001943.5(DSG2):c.828+20_828+21del
|
|
|
|
NM_001943.5(DSG2):c.828+20_828+22del
|
rs1568106673
|
|
|
NM_001943.5(DSG2):c.828+7A>G
|
|
|
|
NM_001943.5(DSG2):c.829-18dup
|
|
|
|
NM_001943.5(DSG2):c.829-4G>A
|
rs376424003
|
|
|
NM_001943.5(DSG2):c.834A>G (p.Glu278=)
|
rs2073150921
|
|
|
NM_001943.5(DSG2):c.846A>G (p.Glu282=)
|
rs752126487
|
|
|
NM_001943.5(DSG2):c.864A>T (p.Val288=)
|
|
|
|
NM_001943.5(DSG2):c.873G>C (p.Thr291=)
|
|
|
|
NM_001943.5(DSG2):c.876_877inv (p.Ile293Val)
|
|
|
|
NM_001943.5(DSG2):c.885G>A (p.Val295=)
|
rs534674777
|
|
|
NM_001943.5(DSG2):c.885G>T (p.Val295=)
|
|
|
|
NM_001943.5(DSG2):c.888C>T (p.Phe296=)
|
rs975297970
|
|
|
NM_001943.5(DSG2):c.891T>C (p.Asp297=)
|
rs1412667083
|
|
|
NM_001943.5(DSG2):c.90C>T (p.Ser30=)
|
rs2144313897
|
|
|
NM_001943.5(DSG2):c.915T>C (p.Asn305=)
|
rs1484918582
|
|
|
NM_001943.5(DSG2):c.939A>G (p.Ala313=)
|
|
|
|
NM_001985.3(ETFB):c.111C>T (p.Ser37=)
|
|
|
|
NM_001985.3(ETFB):c.117C>T (p.Asn39=)
|
rs2123591099
|
|
|
NM_001985.3(ETFB):c.123C>T (p.Phe41=)
|
|
|
|
NM_001985.3(ETFB):c.12G>A (p.Leu4=)
|
|
|
|
NM_001985.3(ETFB):c.12G>C (p.Leu4=)
|
|
|
|
NM_001985.3(ETFB):c.132C>T (p.Ile44=)
|
rs374935848
|
|
|
NM_001985.3(ETFB):c.135G>C (p.Ala45=)
|
|
|
|
NM_001985.3(ETFB):c.138G>C (p.Val46=)
|
rs537142189
|
|
|
NM_001985.3(ETFB):c.156C>G (p.Leu52=)
|
|
|
|
NM_001985.3(ETFB):c.15C>T (p.Arg5=)
|
|
|
|
NM_001985.3(ETFB):c.174G>A (p.Val58=)
|
|
|
|
NM_001985.3(ETFB):c.180G>A (p.Glu60=)
|
|
|
|
NM_001985.3(ETFB):c.186C>T (p.Ile62=)
|
|
|
|
NM_001985.3(ETFB):c.201G>A (p.Gly67=)
|
|
|
|
NM_001985.3(ETFB):c.216+10G>A
|
|
|
|
NM_001985.3(ETFB):c.216+12C>T
|
|
|
|
NM_001985.3(ETFB):c.216+20G>C
|
|
|
|
NM_001985.3(ETFB):c.217-14T>G
|
|
|
|
NM_001985.3(ETFB):c.217-15C>T
|
|
|
|
NM_001985.3(ETFB):c.222G>A (p.Thr74=)
|
|
|
|
NM_001985.3(ETFB):c.225T>A (p.Ile75=)
|
|
|
|
NM_001985.3(ETFB):c.231C>T (p.Thr77=)
|
|
|
|
NM_001985.3(ETFB):c.252C>T (p.Asp84=)
|
rs1599842126
|
|
|
NM_001985.3(ETFB):c.253C>A (p.Arg85=)
|
rs187424345
|
|
|
NM_001985.3(ETFB):c.267G>A (p.Val89=)
|
rs984710058
|
|
|
NM_001985.3(ETFB):c.267G>T (p.Val89=)
|
|
|
|
NM_001985.3(ETFB):c.273G>A (p.Val91=)
|
|
|
|
NM_001985.3(ETFB):c.282A>G (p.Ala94=)
|
|
|
|
NM_001985.3(ETFB):c.285A>G (p.Glu95=)
|
|
|
|
NM_001985.3(ETFB):c.297G>A (p.Leu99=)
|
|
|
|
NM_001985.3(ETFB):c.306G>A (p.Leu102=)
|
|
|
|
NM_001985.3(ETFB):c.30C>G (p.Val10=)
|
|
|
|
NM_001985.3(ETFB):c.315T>A (p.Ala105=)
|
|
|
|
NM_001985.3(ETFB):c.324G>A (p.Leu108=)
|
|
|
|
NM_001985.3(ETFB):c.327C>A (p.Ala109=)
|
|
|
|
NM_001985.3(ETFB):c.33G>A (p.Lys11=)
|
|
|
|
NM_001985.3(ETFB):c.351G>A (p.Val117=)
|
|
|
|
NM_001985.3(ETFB):c.355C>T (p.Leu119=)
|
|
|
|
NM_001985.3(ETFB):c.375+14G>A
|
rs757521352
|
|
|
NM_001985.3(ETFB):c.375+16C>T
|
|
|
|
NM_001985.3(ETFB):c.375+19C>T
|
|
|
|
NM_001985.3(ETFB):c.375+7G>C
|
|
|
|
NM_001985.3(ETFB):c.376-12C>T
|
|
|
|
NM_001985.3(ETFB):c.376-7C>T
|
|
|
|
NM_001985.3(ETFB):c.381C>T (p.Ile127=)
|
|
|
|
NM_001985.3(ETFB):c.414A>G (p.Thr138=)
|
rs1178011139
|
|
|
NM_001985.3(ETFB):c.438+12G>T
|
|
|
|
NM_001985.3(ETFB):c.438+13T>G
|
|
|
|
NM_001985.3(ETFB):c.438+7C>T
|
|
|
|
NM_001985.3(ETFB):c.439-18T>C
|
|
|
|
NM_001985.3(ETFB):c.439-20_439-18del
|
|
|
|
NM_001985.3(ETFB):c.439-4C>T
|
rs2035246995
|
|
|
NM_001985.3(ETFB):c.450C>A (p.Ala150=)
|
|
|
|
NM_001985.3(ETFB):c.456G>A (p.Gln152=)
|
|
|
|
NM_001985.3(ETFB):c.462G>A (p.Thr154=)
|
|
|
|
NM_001985.3(ETFB):c.480G>A (p.Leu160=)
|
rs2123572721
|
|
|
NM_001985.3(ETFB):c.48C>T (p.Tyr16=)
|
rs1201149156
|
|
|
NM_001985.3(ETFB):c.492G>A (p.Arg164=)
|
|
|
|
NM_001985.3(ETFB):c.498C>T (p.Ile166=)
|
rs150636733
|
|
|
NM_001985.3(ETFB):c.504G>C (p.Gly168=)
|
|
|
|
NM_001985.3(ETFB):c.519G>C (p.Leu173=)
|
rs933129897
|
|
|
NM_001985.3(ETFB):c.531G>A (p.Leu177=)
|
|
|
|
NM_001985.3(ETFB):c.553C>T (p.Leu185=)
|
|
|
|
NM_001985.3(ETFB):c.564C>T (p.Asn188=)
|
|
|
|
NM_001985.3(ETFB):c.57+10C>A
|
|
|
|
NM_001985.3(ETFB):c.57+10C>T
|
|
|
|
NM_001985.3(ETFB):c.57+11C>A
|
|
|
|
NM_001985.3(ETFB):c.57+14C>G
|
|
|
|
NM_001985.3(ETFB):c.57+16T>C
|
|
|
|
NM_001985.3(ETFB):c.57+9G>A
|
|
|
|
NM_001985.3(ETFB):c.58-10T>C
|
|
|
|
NM_001985.3(ETFB):c.58-10T>G
|
|
|
|
NM_001985.3(ETFB):c.58-12C>T
|
|
|
|
NM_001985.3(ETFB):c.58-15C>T
|
|
|
|
NM_001985.3(ETFB):c.58-20C>T
|
|
|
|
NM_001985.3(ETFB):c.58-8_58-6del
|
|
|
|
NM_001985.3(ETFB):c.588C>G (p.Pro196=)
|
|
|
|
NM_001985.3(ETFB):c.597+12_597+25del
|
rs756531454
|
|
|
NM_001985.3(ETFB):c.597+13C>G
|
|
|
|
NM_001985.3(ETFB):c.597+17C>A
|
rs372586153
|
|
|
NM_001985.3(ETFB):c.597+17C>G
|
|
|
|
NM_001985.3(ETFB):c.597+17C>T
|
|
|
|
NM_001985.3(ETFB):c.597+18G>A
|
|
|
|
NM_001985.3(ETFB):c.597+19G>A
|
|
|
|
NM_001985.3(ETFB):c.597+9C>G
|
rs1985800060
|
|
|
NM_001985.3(ETFB):c.597+9C>T
|
|
|
|
NM_001985.3(ETFB):c.598-10C>T
|
|
|
|
NM_001985.3(ETFB):c.598-15G>A
|
|
|
|
NM_001985.3(ETFB):c.598-15G>C
|
|
|
|
NM_001985.3(ETFB):c.598-18A>G
|
|
|
|
NM_001985.3(ETFB):c.598-6G>A
|
|
|
|
NM_001985.3(ETFB):c.598-7T>C
|
|
|
|
NM_001985.3(ETFB):c.598-8A>T
|
|
|
|
NM_001985.3(ETFB):c.598-9C>T
|
|
|
|
NM_001985.3(ETFB):c.61C>A (p.Arg21=)
|
|
|
|
NM_001985.3(ETFB):c.636G>A (p.Gly212=)
|
|
|
|
NM_001985.3(ETFB):c.648G>T (p.Val216=)
|
|
|
|
NM_001985.3(ETFB):c.652C>T (p.Leu218=)
|
|
|
|
NM_001985.3(ETFB):c.654G>C (p.Leu218=)
|
|
|
|
NM_001985.3(ETFB):c.663G>A (p.Lys221=)
|
|
|
|
NM_001985.3(ETFB):c.666C>G (p.Leu222=)
|
|
|
|
NM_001985.3(ETFB):c.666C>T (p.Leu222=)
|
|
|
|
NM_001985.3(ETFB):c.669T>C (p.Ser223=)
|
|
|
|
NM_001985.3(ETFB):c.690G>A (p.Pro230=)
|
|
|
|
NM_001985.3(ETFB):c.69G>A (p.Lys23=)
|
|
|
|
NM_001985.3(ETFB):c.6G>A (p.Ala2=)
|
|
|
|
NM_001985.3(ETFB):c.6G>T (p.Ala2=)
|
rs2123621104
|
|
|
NM_001985.3(ETFB):c.705C>A (p.Ala235=)
|
|
|
|
NM_001985.3(ETFB):c.726T>C (p.Thr242=)
|
|
|
|
NM_001985.3(ETFB):c.72T>A (p.Pro24=)
|
|
|
|
NM_001985.3(ETFB):c.732C>T (p.Asp244=)
|
|
|
|
NM_001985.3(ETFB):c.747G>A (p.Leu249=)
|
|
|
|
NM_001985.3(ETFB):c.75C>T (p.Asp25=)
|
|
|
|
NM_001985.3(ETFB):c.760C>A (p.Arg254=)
|
|
|
|
NM_001985.3(ETFB):c.762G>T (p.Arg254=)
|
rs2123567151
|
|
|
NM_001985.3(ETFB):c.93G>C (p.Thr31=)
|
|
|
|
NM_001985.3(ETFB):c.99T>C (p.Gly33=)
|
rs2123591146
|
|
|
NM_001985.3(ETFB):c.9G>A (p.Glu3=)
|
rs2123621091
|
|
|
NM_002230.4(JUP):c.1029C>T (p.Ser343=)
|
rs2143597754
|
|
|
NM_002230.4(JUP):c.1035G>A (p.Lys345=)
|
|
|
|
NM_002230.4(JUP):c.1054+14C>T
|
|
|
|
NM_002230.4(JUP):c.1054+15C>T
|
|
|
|
NM_002230.4(JUP):c.1054+18G>A
|
rs782112631
|
|
|
NM_002230.4(JUP):c.1054+8T>C
|
rs2143596868
|
|
|
NM_002230.4(JUP):c.1055-11C>A
|
|
|
|
NM_002230.4(JUP):c.1055-11C>G
|
|
|
|
NM_002230.4(JUP):c.1055-16C>T
|
|
|
|
NM_002230.4(JUP):c.1055-4C>A
|
|
|
|
NM_002230.4(JUP):c.1068C>G (p.Ala356=)
|
rs1915436816
|
|
|
NM_002230.4(JUP):c.1092C>T (p.Asn364=)
|
rs1555603222
|
|
|
NM_002230.4(JUP):c.1107G>A (p.Val369=)
|
|
|
|
NM_002230.4(JUP):c.111C>T (p.Val37=)
|
rs2143735905
|
|
|
NM_002230.4(JUP):c.1146G>A (p.Val382=)
|
rs782620083
|
|
|
NM_002230.4(JUP):c.1158+11T>C
|
|
|
|
NM_002230.4(JUP):c.1158+14C>T
|
rs2143591414
|
|
|
NM_002230.4(JUP):c.1158+16G>T
|
|
|
|
NM_002230.4(JUP):c.1158+17G>A
|
|
|
|
NM_002230.4(JUP):c.1158+20C>G
|
|
|
|
NM_002230.4(JUP):c.1159-11T>C
|
rs1555602490
|
|
|
NM_002230.4(JUP):c.1159-13C>T
|
rs201627219
|
|
|
NM_002230.4(JUP):c.1159-7C>T
|
rs2143566266
|
|
|
NM_002230.4(JUP):c.1159-8C>A
|
|
|
|
NM_002230.4(JUP):c.1159-8C>T
|
rs1457861232
|
|
|
NM_002230.4(JUP):c.1170G>T (p.Glu390Asp)
|
|
|
|
NM_002230.4(JUP):c.1173T>C (p.Ser391=)
|
|
|
|
NM_002230.4(JUP):c.1179G>A (p.Leu393=)
|
|
|
|
NM_002230.4(JUP):c.1212C>T (p.Asp404=)
|
rs1482026041
|
|
|
NM_002230.4(JUP):c.1215C>A (p.Val405=)
|
|
|
|
NM_002230.4(JUP):c.1236G>C (p.Thr412=)
|
|
|
|
NM_002230.4(JUP):c.1269C>T (p.Ser423=)
|
|
|
|
NM_002230.4(JUP):c.1281G>A (p.Thr427=)
|
rs373544304
|
|
|
NM_002230.4(JUP):c.1281G>T (p.Thr427=)
|
rs373544304
|
|
|
NM_002230.4(JUP):c.1326C>T (p.Ile442=)
|
rs2143562604
|
|
|
NM_002230.4(JUP):c.132G>A (p.Glu44=)
|
|
|
|
NM_002230.4(JUP):c.1386C>T (p.Leu462=)
|
|
|
|
NM_002230.4(JUP):c.1389T>C (p.Thr463=)
|
|
|
|
NM_002230.4(JUP):c.1395C>T (p.Arg465=)
|
|
|
|
NM_002230.4(JUP):c.1431T>A (p.Arg477=)
|
|
|
|
NM_002230.4(JUP):c.1434C>A (p.Leu478=)
|
rs1597801519
|
|
|
NM_002230.4(JUP):c.1440T>C (p.Tyr480=)
|
|
|
|
NM_002230.4(JUP):c.1446C>T (p.Ile482=)
|
rs1456308434
|
|
|
NM_002230.4(JUP):c.147C>T (p.Cys49=)
|
rs200001999
|
|
|
NM_002230.4(JUP):c.1488A>G (p.Pro496=)
|
rs1285508373
|
|
|
NM_002230.4(JUP):c.1497+16G>A
|
|
|
|
NM_002230.4(JUP):c.1497+16G>C
|
|
|
|
NM_002230.4(JUP):c.1498-10T>C
|
|
|
|
NM_002230.4(JUP):c.1498-15C>A
|
|
|
|
NM_002230.4(JUP):c.1498-16C>T
|
|
|
|
NM_002230.4(JUP):c.1498-20A>G
|
|
|
|
NM_002230.4(JUP):c.1509C>T (p.Gly503=)
|
rs782445315
|
|
|
NM_002230.4(JUP):c.1518G>A (p.Arg506=)
|
|
|
|
NM_002230.4(JUP):c.1527C>T (p.Ala509=)
|
rs2143460490
|
|
|
NM_002230.4(JUP):c.1528C>T (p.Leu510=)
|
rs782136684
|
|
|
NM_002230.4(JUP):c.1536A>G (p.Pro512=)
|
|
|
|
NM_002230.4(JUP):c.1548C>G (p.Ala516=)
|
|
|
|
NM_002230.4(JUP):c.1551G>T (p.Pro517=)
|
|
|
|
NM_002230.4(JUP):c.156G>A (p.Gln52=)
|
rs1916673290
|
|
|
NM_002230.4(JUP):c.1581C>T (p.Leu527=)
|
rs1555599788
|
|
|
NM_002230.4(JUP):c.1587A>G (p.Gln529=)
|
rs886052919
|
|
|
NM_002230.4(JUP):c.1588C>T (p.Leu530=)
|
|
|
|
NM_002230.4(JUP):c.1605C>T (p.His535=)
|
|
|
|
NM_002230.4(JUP):c.162G>T (p.Thr54=)
|
|
|
|
NM_002230.4(JUP):c.1638A>G (p.Thr546=)
|
|
|
|
NM_002230.4(JUP):c.1641G>A (p.Gln547=)
|
rs1555599694
|
|
|
NM_002230.4(JUP):c.1653+12G>A
|
rs1049591642
|
|
|
NM_002230.4(JUP):c.1653+16G>A
|
|
|
|
NM_002230.4(JUP):c.1653+7G>A
|
rs1555599671
|
|
|
NM_002230.4(JUP):c.1653+9G>A
|
|
|
|
NM_002230.4(JUP):c.1671G>A (p.Glu557=)
|
|
|
|
NM_002230.4(JUP):c.1692C>G (p.Thr564=)
|
|
|
|
NM_002230.4(JUP):c.1695A>G (p.Gly565=)
|
|
|
|
NM_002230.4(JUP):c.1713C>A (p.Ala571=)
|
|
|
|
NM_002230.4(JUP):c.1713C>T (p.Ala571=)
|
|
|
|
NM_002230.4(JUP):c.1722C>A (p.Pro574=)
|
rs1016855983
|
|
|
NM_002230.4(JUP):c.1722C>G (p.Pro574=)
|
rs1016855983
|
|
|
NM_002230.4(JUP):c.1722C>T (p.Pro574=)
|
rs1016855983
|
|
|
NM_002230.4(JUP):c.1743C>T (p.Phe581=)
|
|
|
|
NM_002230.4(JUP):c.1746G>A (p.Arg582=)
|
|
|
|
NM_002230.4(JUP):c.1749C>T (p.Leu583=)
|
|
|
|
NM_002230.4(JUP):c.174C>T (p.Thr58=)
|
|
|
|
NM_002230.4(JUP):c.1764G>T (p.Leu588=)
|
rs541032494
|
|
|
NM_002230.4(JUP):c.1773+19G>A
|
|
|
|
NM_002230.4(JUP):c.1774-15G>A
|
|
|
|
NM_002230.4(JUP):c.1774-17A>C
|
|
|
|
NM_002230.4(JUP):c.1774-4C>T
|
|
|
|
NM_002230.4(JUP):c.1774-5C>G
|
rs1555599040
|
|
|
NM_002230.4(JUP):c.1777C>T (p.Leu593=)
|
|
|
|
NM_002230.4(JUP):c.1779G>A (p.Leu593=)
|
|
|
|
NM_002230.4(JUP):c.177C>G (p.Thr59=)
|
|
|
|
NM_002230.4(JUP):c.177C>T (p.Thr59=)
|
|
|
|
NM_002230.4(JUP):c.1785G>C (p.Ser595=)
|
|
|
|
NM_002230.4(JUP):c.1815C>G (p.Ala605=)
|
|
|
|
NM_002230.4(JUP):c.1824G>A (p.Leu608=)
|
rs376043057
|
|
|
NM_002230.4(JUP):c.1830G>A (p.Glu610=)
|
|
|
|
NM_002230.4(JUP):c.1854C>G (p.Ala618=)
|
rs782176670
|
|
|
NM_002230.4(JUP):c.1878C>T (p.Ala626=)
|
|
|
|
NM_002230.4(JUP):c.1890C>T (p.Leu630=)
|
|
|
|
NM_002230.4(JUP):c.1924+11G>A
|
|
|
|
NM_002230.4(JUP):c.1924+16G>T
|
|
|
|
NM_002230.4(JUP):c.1924+7T>C
|
|
|
|
NM_002230.4(JUP):c.1924+8G>T
|
rs730880115
|
|
|
NM_002230.4(JUP):c.1925-17C>T
|
rs1555598762
|
|
|
NM_002230.4(JUP):c.1925-8C>T
|
rs2143420758
|
|
|
NM_002230.4(JUP):c.1929C>G (p.Thr643=)
|
rs1555598746
|
|
|
NM_002230.4(JUP):c.1938T>C (p.Ala646=)
|
rs2143420014
|
|
|
NM_002230.4(JUP):c.1944C>G (p.Val648=)
|
|
|
|
NM_002230.4(JUP):c.1974A>G (p.Pro658=)
|
rs782733127
|
|
|
NM_002230.4(JUP):c.1989C>G (p.Arg663=)
|
|
|
|
NM_002230.4(JUP):c.2016C>T (p.Leu672=)
|
|
|
|
NM_002230.4(JUP):c.2019C>T (p.Phe673=)
|
|
|
|
NM_002230.4(JUP):c.2022G>A (p.Lys674=)
|
rs1914011102
|
|
|
NM_002230.4(JUP):c.2028C>T (p.Asp676=)
|
|
|
|
NM_002230.4(JUP):c.2046+10C>T
|
|
|
|
NM_002230.4(JUP):c.2046+15T>G
|
|
|
|
NM_002230.4(JUP):c.2046+19A>G
|
|
|
|
NM_002230.4(JUP):c.2046T>A (p.Ala682=)
|
rs782632671
|
|
|
NM_002230.4(JUP):c.2047-11T>C
|
|
|
|
NM_002230.4(JUP):c.2047-14C>T
|
rs116666639
|
|
|
NM_002230.4(JUP):c.2047-17TC[3]
|
|
|
|
NM_002230.4(JUP):c.2055C>T (p.Ser685=)
|
rs1913708075
|
|
|
NM_002230.4(JUP):c.2079T>C (p.Tyr693=)
|
rs1555597744
|
|
|
NM_002230.4(JUP):c.208+11C>T
|
rs2143733221
|
|
|
NM_002230.4(JUP):c.208+14G>A
|
|
|
|
NM_002230.4(JUP):c.208+15G>A
|
|
|
|
NM_002230.4(JUP):c.2086+19C>T
|
|
|
|
NM_002230.4(JUP):c.2087-17C>T
|
|
|
|
NM_002230.4(JUP):c.2087-19C>A
|
rs1913635624
|
|
|
NM_002230.4(JUP):c.2087-8G>A
|
|
|
|
NM_002230.4(JUP):c.2087-9_2087-8delinsCT
|
rs2143375848
|
|
|
NM_002230.4(JUP):c.209-14C>A
|
|
|
|
NM_002230.4(JUP):c.209-18T>C
|
|
|
|
NM_002230.4(JUP):c.209-4C>G
|
rs1555605999
|
|
|
NM_002230.4(JUP):c.2100C>G (p.Thr700=)
|
|
|
|
NM_002230.4(JUP):c.2130C>A (p.Pro710=)
|
rs2143374346
|
|
|
NM_002230.4(JUP):c.2139G>A (p.Pro713=)
|
rs782165431
|
|
|
NM_002230.4(JUP):c.2145G>A (p.Glu715=)
|
|
|
|
NM_002230.4(JUP):c.2190C>T (p.Ser730=)
|
|
|
|
NM_002230.4(JUP):c.2208G>T (p.Pro736=)
|
rs371508357
|
|
|
NM_002230.4(JUP):c.2211C>T (p.Tyr737=)
|
rs2143370644
|
|
|
NM_002230.4(JUP):c.2214C>A (p.Pro738=)
|
rs781848758
|
|
|
NM_002230.4(JUP):c.2220A>G (p.Ala740=)
|
rs142102308
|
|
|
NM_002230.4(JUP):c.2238G>A (p.Ter746=)
|
|
|
|
NM_002230.4(JUP):c.240C>T (p.Ala80=)
|
rs782139792
|
|
|
NM_002230.4(JUP):c.279G>A (p.Val93=)
|
rs1208581123
|
|
|
NM_002230.4(JUP):c.294C>T (p.Ser98=)
|
rs2143696152
|
|
|
NM_002230.4(JUP):c.315G>A (p.Gln105=)
|
rs375489362
|
|
|
NM_002230.4(JUP):c.318G>T (p.Val106=)
|
|
|
|
NM_002230.4(JUP):c.337C>T (p.Leu113=)
|
|
|
|
NM_002230.4(JUP):c.33C>T (p.Ile11=)
|
rs2143738156
|
|
|
NM_002230.4(JUP):c.351C>G (p.Ala117=)
|
rs397517300
|
|
|
NM_002230.4(JUP):c.357G>T (p.Pro119=)
|
rs782579395
|
|
|
NM_002230.4(JUP):c.372G>A (p.Lys124=)
|
|
|
|
NM_002230.4(JUP):c.375G>A (p.Ser125=)
|
rs111344340
|
|
|
NM_002230.4(JUP):c.375G>C (p.Ser125=)
|
rs111344340
|
|
|
NM_002230.4(JUP):c.381T>C (p.Ile127=)
|
|
|
|
NM_002230.4(JUP):c.390C>G (p.Leu130=)
|
rs1555605734
|
|
|
NM_002230.4(JUP):c.396C>T (p.Asn132=)
|
rs782797349
|
|
|
NM_002230.4(JUP):c.408T>C (p.Asp136=)
|
|
|
|
NM_002230.4(JUP):c.433C>T (p.Pro145Ser)
|
|
|
|
NM_002230.4(JUP):c.456C>T (p.Asn152=)
|
rs781907298
|
|
|
NM_002230.4(JUP):c.468+19T>G
|
rs2143690687
|
|
|
NM_002230.4(JUP):c.468+7G>A
|
rs1916226554
|
|
|
NM_002230.4(JUP):c.468+8A>G
|
|
|
|
NM_002230.4(JUP):c.469-13dup
|
|
|
|
NM_002230.4(JUP):c.486G>T (p.Ala162=)
|
|
|
|
NM_002230.4(JUP):c.501C>T (p.Asn167=)
|
|
|
|
NM_002230.4(JUP):c.537G>A (p.Leu179=)
|
|
|
|
NM_002230.4(JUP):c.549C>G (p.Pro183=)
|
rs112787493
|
|
|
NM_002230.4(JUP):c.555G>A (p.Leu185=)
|
rs1555605299
|
|
|
NM_002230.4(JUP):c.564T>C (p.Ala188=)
|
|
|
|
NM_002230.4(JUP):c.57A>G (p.Thr19=)
|
|
|
|
NM_002230.4(JUP):c.588C>T (p.Thr196=)
|
rs1597823864
|
|
|
NM_002230.4(JUP):c.597G>A (p.Leu199=)
|
rs2143682126
|
|
|
NM_002230.4(JUP):c.639C>T (p.Ser213=)
|
rs782266138
|
|
|
NM_002230.4(JUP):c.642C>T (p.His214=)
|
rs2143681143
|
|
|
NM_002230.4(JUP):c.648G>A (p.Arg216=)
|
|
|
|
NM_002230.4(JUP):c.655C>T (p.Leu219=)
|
|
|
|
NM_002230.4(JUP):c.657G>A (p.Leu219=)
|
|
|
|
NM_002230.4(JUP):c.660C>G (p.Leu220=)
|
|
|
|
NM_002230.4(JUP):c.669C>T (p.Phe223=)
|
|
|
|
NM_002230.4(JUP):c.707+12T>C
|
rs782282188
|
|
|
NM_002230.4(JUP):c.707+19T>G
|
|
|
|
NM_002230.4(JUP):c.707+20G>T
|
|
|
|
NM_002230.4(JUP):c.707+9C>G
|
rs561653700
|
|
|
NM_002230.4(JUP):c.708-11C>T
|
|
|
|
NM_002230.4(JUP):c.708-13C>A
|
|
|
|
NM_002230.4(JUP):c.708-3dup
|
rs782230165
|
|
|
NM_002230.4(JUP):c.708-6C>T
|
rs782704213
|
|
|
NM_002230.4(JUP):c.708-8C>T
|
|
|
|
NM_002230.4(JUP):c.708-9C>A
|
rs1915931667
|
|
|
NM_002230.4(JUP):c.708-9C>T
|
rs1915931667
|
|
|
NM_002230.4(JUP):c.726C>T (p.Val242=)
|
rs2143652970
|
|
|
NM_002230.4(JUP):c.729G>A (p.Leu243=)
|
rs2143652897
|
|
|
NM_002230.4(JUP):c.729G>C (p.Leu243=)
|
|
|
|
NM_002230.4(JUP):c.747G>A (p.Thr249=)
|
|
|
|
NM_002230.4(JUP):c.762C>G (p.Leu254=)
|
rs781805854
|
|
|
NM_002230.4(JUP):c.763C>T (p.Leu255=)
|
rs1005433215
|
|
|
NM_002230.4(JUP):c.798G>A (p.Leu266=)
|
|
|
|
NM_002230.4(JUP):c.813A>G (p.Gln271=)
|
rs1597817544
|
|
|
NM_002230.4(JUP):c.828G>C (p.Leu276=)
|
|
|
|
NM_002230.4(JUP):c.831C>T (p.Leu277=)
|
rs1915911159
|
|
|
NM_002230.4(JUP):c.84G>C (p.Ser28=)
|
rs144137028
|
|
|
NM_002230.4(JUP):c.852C>T (p.Phe284=)
|
|
|
|
NM_002230.4(JUP):c.855G>A (p.Leu285=)
|
|
|
|
NM_002230.4(JUP):c.855G>C (p.Leu285=)
|
rs1392149768
|
|
|
NM_002230.4(JUP):c.909+10C>T
|
rs2143648785
|
|
|
NM_002230.4(JUP):c.909+20C>T
|
rs2143648546
|
|
|
NM_002230.4(JUP):c.909+6C>T
|
rs193922705
|
|
|
NM_002230.4(JUP):c.910-14C>T
|
|
|
|
NM_002230.4(JUP):c.910-16C>T
|
|
|
|
NM_002230.4(JUP):c.910-19A>G
|
|
|
|
NM_002230.4(JUP):c.910-19A>T
|
|
|
|
NM_002230.4(JUP):c.910-7C>T
|
rs782066434
|
|
|
NM_002230.4(JUP):c.910-9T>A
|
|
|
|
NM_002230.4(JUP):c.910-9T>C
|
rs1915494472
|
|
|
NM_002230.4(JUP):c.915C>A (p.Ile305=)
|
|
|
|
NM_002230.4(JUP):c.927T>C (p.Asn309=)
|
rs571363075
|
|
|
NM_002230.4(JUP):c.93C>T (p.Asn31=)
|
rs1597835146
|
|
|
NM_002230.4(JUP):c.96C>T (p.Thr32=)
|
|
|
|
NM_002230.4(JUP):c.981G>A (p.Leu327=)
|
rs1295630627
|
|
|
NM_002230.4(JUP):c.984C>T (p.Leu328=)
|
|
|
|
NM_002230.4(JUP):c.9G>C (p.Val3=)
|
|
|
|
NM_002471.3(MYH6):c.3979-12C>A
|
rs754263361
|
|
|
NM_002471.3(MYH6):c.3979-8C>A
|
rs555976716
|
|
|
NM_002471.4(MYH6):c.1002+11G>C
|
rs2138615504
|
|
|
NM_002471.4(MYH6):c.1002+20C>T
|
|
|
|
NM_002471.4(MYH6):c.1003-13C>T
|
|
|
|
NM_002471.4(MYH6):c.1003-18T>C
|
|
|
|
NM_002471.4(MYH6):c.1003-18TC[2]
|
|
|
|
NM_002471.4(MYH6):c.1044T>C (p.Ala348=)
|
rs948944172
|
|
|
NM_002471.4(MYH6):c.1047C>G (p.Gly349=)
|
|
|
|
NM_002471.4(MYH6):c.1056G>A (p.Lys352=)
|
rs1410301153
|
|
|
NM_002471.4(MYH6):c.1059G>C (p.Leu353=)
|
rs2138615187
|
|
|
NM_002471.4(MYH6):c.1080C>T (p.Tyr360=)
|
|
|
|
NM_002471.4(MYH6):c.1083G>C (p.Gly361=)
|
|
|
|
NM_002471.4(MYH6):c.1095C>T (p.Phe365=)
|
rs1595062683
|
|
|
NM_002471.4(MYH6):c.1110G>C (p.Arg370=)
|
|
|
|
NM_002471.4(MYH6):c.1125G>A (p.Glu375=)
|
rs752309025
|
|
|
NM_002471.4(MYH6):c.1134C>A (p.Gly378=)
|
rs2138615018
|
|
|
NM_002471.4(MYH6):c.1141+17G>A
|
|
|
|
NM_002471.4(MYH6):c.1141+8G>C
|
rs377327277
|
|
|
NM_002471.4(MYH6):c.1142-15T>C
|
|
|
|
NM_002471.4(MYH6):c.1155G>T (p.Ser385=)
|
rs147903010
|
|
|
NM_002471.4(MYH6):c.1185C>T (p.Asp395=)
|
rs201822160
|
|
|
NM_002471.4(MYH6):c.1191C>T (p.Leu397=)
|
|
|
|
NM_002471.4(MYH6):c.1194G>A (p.Lys398=)
|
rs1031590129
|
|
|
NM_002471.4(MYH6):c.1243G>A (p.Gly415Arg)
|
rs576432451
|
|
|
NM_002471.4(MYH6):c.1299T>C (p.Tyr433=)
|
rs1347517536
|
|
|
NM_002471.4(MYH6):c.1353G>A (p.Lys451=)
|
|
|
|
NM_002471.4(MYH6):c.1380C>T (p.Val460=)
|
rs2138612268
|
|
|
NM_002471.4(MYH6):c.1389C>A (p.Ile463=)
|
rs771613733
|
|
|
NM_002471.4(MYH6):c.1389C>T (p.Ile463=)
|
|
|
|
NM_002471.4(MYH6):c.1411-10C>A
|
|
|
|
NM_002471.4(MYH6):c.1411-4G>T
|
|
|
|
NM_002471.4(MYH6):c.1411-7C>T
|
|
|
|
NM_002471.4(MYH6):c.1428G>A (p.Gln476=)
|
|
|
|
NM_002471.4(MYH6):c.1521T>C (p.Ile507=)
|
rs142410102
|
|
|
NM_002471.4(MYH6):c.1575C>A (p.Ile525=)
|
|
|
|
NM_002471.4(MYH6):c.1581+10del
|
rs560271582
|
|
|
NM_002471.4(MYH6):c.1582-19C>T
|
|
|
|
NM_002471.4(MYH6):c.1582-20C>T
|
rs2138609685
|
|
|
NM_002471.4(MYH6):c.1638C>T (p.Asp546=)
|
rs764088672
|
|
|
NM_002471.4(MYH6):c.1644C>T (p.Thr548=)
|
|
|
|
NM_002471.4(MYH6):c.165G>A (p.Glu55=)
|
|
|
|
NM_002471.4(MYH6):c.1665C>T (p.Asp555=)
|
|
|
|
NM_002471.4(MYH6):c.1704C>T (p.Arg568=)
|
rs1891514352
|
|
|
NM_002471.4(MYH6):c.1707C>T (p.Asn569=)
|
|
|
|
NM_002471.4(MYH6):c.1755C>T (p.Gly585=)
|
rs1891511861
|
|
|
NM_002471.4(MYH6):c.1788A>G (p.Glu596=)
|
rs1595060502
|
|
|
NM_002471.4(MYH6):c.1891+16C>A
|
rs2138608969
|
|
|
NM_002471.4(MYH6):c.1891+20A>G
|
rs754816458
|
|
|
NM_002471.4(MYH6):c.1892-10C>T
|
rs1322705042
|
|
|
NM_002471.4(MYH6):c.1893G>A (p.Gly631=)
|
|
|
|
NM_002471.4(MYH6):c.1908C>T (p.Ser636=)
|
rs775936803
|
|
|
NM_002471.4(MYH6):c.1960C>A (p.Arg654=)
|
rs369938365
|
|
|
NM_002471.4(MYH6):c.1962+13C>G
|
|
|
|
NM_002471.4(MYH6):c.1963-10C>T
|
|
|
|
NM_002471.4(MYH6):c.1963-16C>T
|
|
|
|
NM_002471.4(MYH6):c.1963-20_1963-13del
|
|
|
|
NM_002471.4(MYH6):c.1980A>G (p.Leu660=)
|
rs1337740690
|
|
|
NM_002471.4(MYH6):c.201+10dup
|
|
|
|
NM_002471.4(MYH6):c.202-10C>T
|
|
|
|
NM_002471.4(MYH6):c.202-11G>A
|
rs374248120
|
|
|
NM_002471.4(MYH6):c.202-11G>T
|
|
|
|
NM_002471.4(MYH6):c.202-14T>C
|
rs2138620648
|
|
|
NM_002471.4(MYH6):c.2031C>T (p.Pro677=)
|
rs1891424309
|
|
|
NM_002471.4(MYH6):c.2050+13A>G
|
|
|
|
NM_002471.4(MYH6):c.2050+14A>T
|
|
|
|
NM_002471.4(MYH6):c.2050+14_2050+16del
|
|
|
|
NM_002471.4(MYH6):c.2050+15G>C
|
|
|
|
NM_002471.4(MYH6):c.2050+17C>A
|
|
|
|
NM_002471.4(MYH6):c.2050+17C>T
|
|
|
|
NM_002471.4(MYH6):c.2051-13C>T
|
|
|
|
NM_002471.4(MYH6):c.2051-15T>A
|
|
|
|
NM_002471.4(MYH6):c.2051-15_2051-8del
|
|
|
|
NM_002471.4(MYH6):c.2088C>T (p.Arg696=)
|
rs145613682
|
|
|
NM_002471.4(MYH6):c.2168+16C>G
|
rs2138604395
|
|
|
NM_002471.4(MYH6):c.2169-5C>T
|
|
|
|
NM_002471.4(MYH6):c.2169-9C>T
|
rs1423341577
|
|
|
NM_002471.4(MYH6):c.2184C>T (p.Asn728=)
|
|
|
|
NM_002471.4(MYH6):c.2244C>T (p.Leu748=)
|
|
|
|
NM_002471.4(MYH6):c.2268C>T (p.Asn756=)
|
|
|
|
NM_002471.4(MYH6):c.2277G>A (p.Lys759=)
|
rs1229444024
|
|
|
NM_002471.4(MYH6):c.2289C>G (p.Thr763=)
|
rs1891406380
|
|
|
NM_002471.4(MYH6):c.2292+15C>T
|
|
|
|
NM_002471.4(MYH6):c.2293-11C>T
|
|
|
|
NM_002471.4(MYH6):c.2293-12C>T
|
|
|
|
NM_002471.4(MYH6):c.2293-8G>T
|
|
|
|
NM_002471.4(MYH6):c.2322G>A (p.Leu774=)
|
rs1555334170
|
|
|
NM_002471.4(MYH6):c.2325G>T (p.Leu775=)
|
|
|
|
NM_002471.4(MYH6):c.2379A>G (p.Gln793=)
|
rs752755304
|
|
|
NM_002471.4(MYH6):c.2388C>A (p.Gly796=)
|
|
|
|
NM_002471.4(MYH6):c.2421G>A (p.Val807=)
|
rs768525424
|
|
|
NM_002471.4(MYH6):c.2429+19G>A
|
|
|
|
NM_002471.4(MYH6):c.2430-5G>A
|
|
|
|
NM_002471.4(MYH6):c.2439G>A (p.Leu813=)
|
|
|
|
NM_002471.4(MYH6):c.2440C>T (p.Leu814=)
|
rs150675144
|
|
|
NM_002471.4(MYH6):c.245C>T (p.Pro82Leu)
|
rs529427223
|
|
|
NM_002471.4(MYH6):c.2502C>A (p.Leu834=)
|
|
|
|
NM_002471.4(MYH6):c.2521C>T (p.Leu841=)
|
rs760142743
|
|
|
NM_002471.4(MYH6):c.2556C>T (p.Ala852=)
|
|
|
|
NM_002471.4(MYH6):c.2613C>T (p.Arg871=)
|
|
|
|
NM_002471.4(MYH6):c.2646G>A (p.Leu882=)
|
|
|
|
NM_002471.4(MYH6):c.2686-16T>C
|
|
|
|
NM_002471.4(MYH6):c.2686-20T>C
|
|
|
|
NM_002471.4(MYH6):c.2736A>G (p.Lys912=)
|
|
|
|
NM_002471.4(MYH6):c.2742G>A (p.Lys914=)
|
|
|
|
NM_002471.4(MYH6):c.2784G>T (p.Leu928=)
|
rs1891312530
|
|
|
NM_002471.4(MYH6):c.2808G>C (p.Ala936=)
|
rs753515476
|
|
|
NM_002471.4(MYH6):c.2928+15C>A
|
|
|
|
NM_002471.4(MYH6):c.2928+8C>G
|
|
|
|
NM_002471.4(MYH6):c.2929-20G>A
|
|
|
|
NM_002471.4(MYH6):c.2929-30_2929-19del
|
|
|
|
NM_002471.4(MYH6):c.2929-9G>T
|
|
|
|
NM_002471.4(MYH6):c.2961G>T (p.Leu987=)
|
|
|
|
NM_002471.4(MYH6):c.2970C>T (p.Ile990=)
|
|
|
|
NM_002471.4(MYH6):c.300G>A (p.Ala100=)
|
rs200520512
|
|
|
NM_002471.4(MYH6):c.3015T>C (p.His1005=)
|
|
|
|
NM_002471.4(MYH6):c.3060C>T (p.Asn1020=)
|
|
|
|
NM_002471.4(MYH6):c.3063C>T (p.Ser1021=)
|
|
|
|
NM_002471.4(MYH6):c.3064C>T (p.Leu1022=)
|
|
|
|
NM_002471.4(MYH6):c.3105+18T>G
|
|
|
|
NM_002471.4(MYH6):c.3105+9T>C
|
rs1555333942
|
|
|
NM_002471.4(MYH6):c.3106-7C>T
|
rs2138597656
|
|
|
NM_002471.4(MYH6):c.3135G>A (p.Lys1045=)
|
|
|
|
NM_002471.4(MYH6):c.3164G>A (p.Arg1055Gln)
|
rs540893860
|
|
|
NM_002471.4(MYH6):c.3168A>G (p.Lys1056=)
|
|
|
|
NM_002471.4(MYH6):c.3174G>A (p.Glu1058=)
|
|
|
|
NM_002471.4(MYH6):c.3177C>G (p.Gly1059=)
|
rs529676901
|
|
|
NM_002471.4(MYH6):c.318G>A (p.Lys106=)
|
rs906582738
|
|
|
NM_002471.4(MYH6):c.3211C>T (p.Leu1071=)
|
rs2138597355
|
|
|
NM_002471.4(MYH6):c.321G>A (p.Glu107=)
|
rs765093721
|
|
|
NM_002471.4(MYH6):c.324C>A (p.Arg108=)
|
|
|
|
NM_002471.4(MYH6):c.3251+7G>A
|
rs1595055690
|
|
|
NM_002471.4(MYH6):c.3252-17C>G
|
rs1343030567
|
|
|
NM_002471.4(MYH6):c.327C>T (p.Tyr109=)
|
|
|
|
NM_002471.4(MYH6):c.3300G>A (p.Gln1100=)
|
rs376802694
|
|
|
NM_002471.4(MYH6):c.3339C>T (p.Asn1113=)
|
|
|
|
NM_002471.4(MYH6):c.333C>T (p.Ala111=)
|
rs774402902
|
|
|
NM_002471.4(MYH6):c.3342+12T>A
|
|
|
|
NM_002471.4(MYH6):c.3342+14C>T
|
|
|
|
NM_002471.4(MYH6):c.3343-18C>T
|
rs1465371849
|
|
|
NM_002471.4(MYH6):c.3343-3del
|
rs1027186100
|
|
|
NM_002471.4(MYH6):c.3351C>A (p.Ile1117=)
|
rs758421298
|
|
|
NM_002471.4(MYH6):c.3417A>G (p.Ser1139=)
|
rs1057523683
|
|
|
NM_002471.4(MYH6):c.3447C>G (p.Ser1149Arg)
|
rs564367705
|
|
|
NM_002471.4(MYH6):c.3447C>T (p.Ser1149=)
|
rs564367705
|
|
|
NM_002471.4(MYH6):c.3451C>A (p.Arg1151=)
|
|
|
|
NM_002471.4(MYH6):c.3453G>T (p.Arg1151=)
|
|
|
|
NM_002471.4(MYH6):c.3459A>G (p.Glu1153=)
|
rs2138593128
|
|
|
NM_002471.4(MYH6):c.346-15T>C
|
rs773519707
|
|
|
NM_002471.4(MYH6):c.3489C>A (p.Ile1163=)
|
rs764540332
|
|
|
NM_002471.4(MYH6):c.3489C>T (p.Ile1163=)
|
rs764540332
|
|
|
NM_002471.4(MYH6):c.3552G>A (p.Thr1184=)
|
|
|
|
NM_002471.4(MYH6):c.3561C>T (p.His1187=)
|
rs753132634
|
|
|
NM_002471.4(MYH6):c.3567C>T (p.Ala1189=)
|
rs2138592851
|
|
|
NM_002471.4(MYH6):c.3583C>A (p.Arg1195Ser)
|
rs769756450
|
|
|
NM_002471.4(MYH6):c.3609C>T (p.Ala1203=)
|
rs149369904
|
|
|
NM_002471.4(MYH6):c.3633C>T (p.Asn1211=)
|
rs2138592642
|
|
|
NM_002471.4(MYH6):c.3636G>A (p.Leu1212=)
|
rs774392020
|
|
|
NM_002471.4(MYH6):c.3640C>A (p.Arg1214=)
|
|
|
|
NM_002471.4(MYH6):c.3645G>A (p.Val1215=)
|
rs936551123
|
|
|
NM_002471.4(MYH6):c.3720C>A (p.Ile1240=)
|
|
|
|
NM_002471.4(MYH6):c.3720C>T (p.Ile1240=)
|
|
|
|
NM_002471.4(MYH6):c.3732+14G>A
|
rs775365935
|
|
|
NM_002471.4(MYH6):c.3733-12T>C
|
|
|
|
NM_002471.4(MYH6):c.3759G>T (p.Thr1253=)
|
rs761754298
|
|
|
NM_002471.4(MYH6):c.3771G>A (p.Gln1257=)
|
|
|
|
NM_002471.4(MYH6):c.3801G>A (p.Glu1267=)
|
|
|
|
NM_002471.4(MYH6):c.3852C>A (p.Thr1284=)
|
|
|
|
NM_002471.4(MYH6):c.3859+12T>A
|
|
|
|
NM_002471.4(MYH6):c.3859+12del
|
|
|
|
NM_002471.4(MYH6):c.3860-13A>G
|
rs1274848635
|
|
|
NM_002471.4(MYH6):c.3870C>T (p.Ala1290=)
|
rs2138591371
|
|
|
NM_002471.4(MYH6):c.3903G>C (p.Ser1301=)
|
rs201804323
|
|
|
NM_002471.4(MYH6):c.3907C>T (p.Leu1303=)
|
|
|
|
NM_002471.4(MYH6):c.3978+13G>T
|
|
|
|
NM_002471.4(MYH6):c.3979-10C>A
|
rs28730768
|
|
|
NM_002471.4(MYH6):c.3979-10C>G
|
rs28730768
|
|
|
NM_002471.4(MYH6):c.3979-10C>T
|
rs28730768
|
|
|
NM_002471.4(MYH6):c.3979-10_3979-8del
|
rs193922652
|
|
|
NM_002471.4(MYH6):c.3979-11C>A
|
rs200618133
|
|
|
NM_002471.4(MYH6):c.3979-11C>T
|
rs200618133
|
|
|
NM_002471.4(MYH6):c.3979-12C>G
|
rs754263361
|
|
|
NM_002471.4(MYH6):c.3979-13C>G
|
rs563648655
|
|
|
NM_002471.4(MYH6):c.3979-13C>T
|
|
|
|
NM_002471.4(MYH6):c.3979-14C>A
|
rs372226248
|
|
|
NM_002471.4(MYH6):c.3979-14C>G
|
rs372226248
|
|
|
NM_002471.4(MYH6):c.3979-14C>T
|
rs372226248
|
|
|
NM_002471.4(MYH6):c.3979-15C>G
|
|
|
|
NM_002471.4(MYH6):c.3979-20G>A
|
|
|
|
NM_002471.4(MYH6):c.3979-7_3979-4del
|
rs745326238
|
|
|
NM_002471.4(MYH6):c.3979-7_3979-5del
|
rs397516764
|
|
|
NM_002471.4(MYH6):c.3979-7_3979-6del
|
rs796313537
|
|
|
NM_002471.4(MYH6):c.3979-7_3979-6insGC
|
|
|
|
NM_002471.4(MYH6):c.3979-8_3979-7delinsGC
|
rs727503235
|
|
|
NM_002471.4(MYH6):c.3979-8_3979-7insCT
|
rs1555333577
|
|
|
NM_002471.4(MYH6):c.3979-9C>T
|
rs57660219
|
|
|
NM_002471.4(MYH6):c.4002A>G (p.Ala1334=)
|
rs1265496062
|
|
|
NM_002471.4(MYH6):c.4026C>A (p.Cys1342Ter)
|
rs141062252
|
|
|
NM_002471.4(MYH6):c.4026C>T (p.Cys1342=)
|
rs141062252
|
|
|
NM_002471.4(MYH6):c.4029C>T (p.Asp1343=)
|
|
|
|
NM_002471.4(MYH6):c.4086C>G (p.Val1362=)
|
rs367788166
|
|
|
NM_002471.4(MYH6):c.4104G>C (p.Ser1368=)
|
rs374887637
|
|
|
NM_002471.4(MYH6):c.4134G>A (p.Glu1378=)
|
rs1555333539
|
|
|
NM_002471.4(MYH6):c.4175+10A>G
|
|
|
|
NM_002471.4(MYH6):c.4175+15C>A
|
|
|
|
NM_002471.4(MYH6):c.4175+18C>A
|
rs200234758
|
|
|
NM_002471.4(MYH6):c.4175+18C>G
|
|
|
|
NM_002471.4(MYH6):c.4176-13C>T
|
|
|
|
NM_002471.4(MYH6):c.4176-5G>C
|
rs2138588814
|
|
|
NM_002471.4(MYH6):c.4183C>T (p.Leu1395=)
|
rs768032525
|
|
|
NM_002471.4(MYH6):c.4206C>G (p.Ala1402=)
|
|
|
|
NM_002471.4(MYH6):c.4257C>A (p.Thr1419=)
|
rs2138588608
|
|
|
NM_002471.4(MYH6):c.4265G>A (p.Arg1422Gln)
|
rs574433291
|
|
|
NM_002471.4(MYH6):c.4314T>C (p.Asn1438=)
|
rs434030
|
|
|
NM_002471.4(MYH6):c.4359+13C>A
|
|
|
|
NM_002471.4(MYH6):c.4359+14G>A
|
|
|
|
NM_002471.4(MYH6):c.4360-15C>T
|
rs2138587922
|
|
|
NM_002471.4(MYH6):c.4360-16C>A
|
|
|
|
NM_002471.4(MYH6):c.4360-17G>A
|
|
|
|
NM_002471.4(MYH6):c.4360-7del
|
rs1243759725
|
|
|
NM_002471.4(MYH6):c.4401T>C (p.Ser1467=)
|
rs150081280
|
|
|
NM_002471.4(MYH6):c.4410G>A (p.Glu1470=)
|
|
|
|
NM_002471.4(MYH6):c.4440C>T (p.Ser1480=)
|
rs1595050859
|
|
|
NM_002471.4(MYH6):c.4446G>A (p.Glu1482=)
|
rs754437314
|
|
|
NM_002471.4(MYH6):c.4485G>A (p.Glu1495=)
|
|
|
|
NM_002471.4(MYH6):c.4525+11G>A
|
|
|
|
NM_002471.4(MYH6):c.4525+11G>T
|
rs753687385
|
|
|
NM_002471.4(MYH6):c.4526-15C>A
|
rs1278423127
|
|
|
NM_002471.4(MYH6):c.4526-15C>T
|
|
|
|
NM_002471.4(MYH6):c.4526-18T>C
|
|
|
|
NM_002471.4(MYH6):c.4536G>C (p.Ser1512=)
|
rs142539180
|
|
|
NM_002471.4(MYH6):c.4575G>A (p.Val1525=)
|
rs2138587127
|
|
|
NM_002471.4(MYH6):c.4587G>A (p.Glu1529=)
|
|
|
|
NM_002471.4(MYH6):c.4595G>T (p.Arg1532Leu)
|
rs34330111
|
|
|
NM_002471.4(MYH6):c.4617G>A (p.Lys1539=)
|
|
|
|
NM_002471.4(MYH6):c.4650+20T>C
|
|
|
|
NM_002471.4(MYH6):c.4650+7G>A
|
|
|
|
NM_002471.4(MYH6):c.4653C>T (p.Ala1551=)
|
rs2138585541
|
|
|
NM_002471.4(MYH6):c.4665C>T (p.His1555=)
|
rs373888186
|
|
|
NM_002471.4(MYH6):c.4674C>T (p.Gly1558=)
|
|
|
|
NM_002471.4(MYH6):c.4728G>A (p.Arg1576=)
|
|
|
|
NM_002471.4(MYH6):c.474C>T (p.Ser158=)
|
rs755939165
|
|
|
NM_002471.4(MYH6):c.4788G>A (p.Val1596=)
|
|
|
|
NM_002471.4(MYH6):c.4794G>A (p.Ser1598=)
|
|
|
|
NM_002471.4(MYH6):c.483C>T (p.Ala161=)
|
|
|
|
NM_002471.4(MYH6):c.4854G>A (p.Lys1618=)
|
rs766153681
|
|
|
NM_002471.4(MYH6):c.4866A>G (p.Gly1622=)
|
|
|
|
NM_002471.4(MYH6):c.4926G>A (p.Gln1642=)
|
|
|
|
NM_002471.4(MYH6):c.4959+11G>A
|
|
|
|
NM_002471.4(MYH6):c.4959+13G>T
|
rs28730765
|
|
|
NM_002471.4(MYH6):c.4959+15G>A
|
|
|
|
NM_002471.4(MYH6):c.4959+20C>T
|
|
|
|
NM_002471.4(MYH6):c.4977G>A (p.Leu1659=)
|
|
|
|
NM_002471.4(MYH6):c.4995C>T (p.Ala1665=)
|
rs746503024
|
|
|
NM_002471.4(MYH6):c.5019C>A (p.Ile1673=)
|
|
|
|
NM_002471.4(MYH6):c.502+16C>T
|
rs2138619637
|
|
|
NM_002471.4(MYH6):c.503-4C>T
|
rs2138619457
|
|
|
NM_002471.4(MYH6):c.503-8T>C
|
rs1566516373
|
|
|
NM_002471.4(MYH6):c.5068C>T (p.Leu1690=)
|
|
|
|
NM_002471.4(MYH6):c.5133C>G (p.Thr1711=)
|
rs775234352
|
|
|
NM_002471.4(MYH6):c.5148G>A (p.Gln1716=)
|
rs936703258
|
|
|
NM_002471.4(MYH6):c.5163+15A>G
|
|
|
|
NM_002471.4(MYH6):c.5164-11_5164-9del
|
|
|
|
NM_002471.4(MYH6):c.5164-12C>A
|
|
|
|
NM_002471.4(MYH6):c.5164-17TC[2]
|
|
|
|
NM_002471.4(MYH6):c.5164-5T>G
|
|
|
|
NM_002471.4(MYH6):c.5164-9C>T
|
rs2138582536
|
|
|
NM_002471.4(MYH6):c.5251A>C (p.Arg1751=)
|
rs1555333151
|
|
|
NM_002471.4(MYH6):c.5286G>A (p.Thr1762=)
|
|
|
|
NM_002471.4(MYH6):c.5289+10C>A
|
|
|
|
NM_002471.4(MYH6):c.5289+10C>T
|
|
|
|
NM_002471.4(MYH6):c.5289+11G>A
|
|
|
|
NM_002471.4(MYH6):c.5289+12C>T
|
|
|
|
NM_002471.4(MYH6):c.5289+14C>T
|
|
|
|
NM_002471.4(MYH6):c.5289+16C>T
|
|
|
|
NM_002471.4(MYH6):c.5289+19T>C
|
|
|
|
NM_002471.4(MYH6):c.5290-17C>A
|
|
|
|
NM_002471.4(MYH6):c.5290-7C>T
|
rs1321465778
|
|
|
NM_002471.4(MYH6):c.530+15T>G
|
rs771353936
|
|
|
NM_002471.4(MYH6):c.5331C>T (p.Thr1777=)
|
|
|
|
NM_002471.4(MYH6):c.5343G>A (p.Leu1781=)
|
|
|
|
NM_002471.4(MYH6):c.5361C>T (p.Asn1787=)
|
|
|
|
NM_002471.4(MYH6):c.5382C>T (p.Asp1794=)
|
|
|
|
NM_002471.4(MYH6):c.5406C>T (p.Ala1802=)
|
|
|
|
NM_002471.4(MYH6):c.546G>A (p.Ala182=)
|
rs150015506
|
|
|
NM_002471.4(MYH6):c.546G>C (p.Ala182=)
|
|
|
|
NM_002471.4(MYH6):c.5481G>A (p.Glu1827=)
|
rs760865481
|
|
|
NM_002471.4(MYH6):c.5484G>A (p.Leu1828=)
|
rs2138581397
|
|
|
NM_002471.4(MYH6):c.5490C>G (p.Ala1830=)
|
rs201209864
|
|
|
NM_002471.4(MYH6):c.5505C>T (p.Asn1835=)
|
rs549746895
|
|
|
NM_002471.4(MYH6):c.5508A>C (p.Ala1836=)
|
|
|
|
NM_002471.4(MYH6):c.5517G>A (p.Val1839=)
|
|
|
|
NM_002471.4(MYH6):c.5520G>A (p.Lys1840=)
|
|
|
|
NM_002471.4(MYH6):c.5539C>A (p.Arg1847=)
|
|
|
|
NM_002471.4(MYH6):c.5547C>T (p.Ile1849=)
|
|
|
|
NM_002471.4(MYH6):c.555T>C (p.Thr185=)
|
rs761493890
|
|
|
NM_002471.4(MYH6):c.5565+7C>T
|
rs780068582
|
|
|
NM_002471.4(MYH6):c.5566-5C>T
|
rs753364388
|
|
|
NM_002471.4(MYH6):c.5566-6C>T
|
|
|
|
NM_002471.4(MYH6):c.5589G>A (p.Leu1863=)
|
rs2138579438
|
|
|
NM_002471.4(MYH6):c.5643G>A (p.Lys1881=)
|
rs1890912044
|
|
|
NM_002471.4(MYH6):c.5652C>A (p.Ala1884=)
|
rs200662317
|
|
|
NM_002471.4(MYH6):c.5662-15A>G
|
|
|
|
NM_002471.4(MYH6):c.5662-9C>T
|
|
|
|
NM_002471.4(MYH6):c.5682C>T (p.Asn1894=)
|
|
|
|
NM_002471.4(MYH6):c.5797-18C>T
|
|
|
|
NM_002471.4(MYH6):c.5797-4G>A
|
rs1890877939
|
|
|
NM_002471.4(MYH6):c.5797-6T>C
|
|
|
|
NM_002471.4(MYH6):c.597A>G (p.Ala199=)
|
|
|
|
NM_002471.4(MYH6):c.636G>T (p.Ala212=)
|
rs111265123
|
|
|
NM_002471.4(MYH6):c.639C>T (p.Asn213=)
|
|
|
|
NM_002471.4(MYH6):c.642+7T>C
|
rs1595064042
|
|
|
NM_002471.4(MYH6):c.678C>A (p.Pro226=)
|
|
|
|
NM_002471.4(MYH6):c.6C>G (p.Thr2=)
|
rs770253223
|
|
|
NM_002471.4(MYH6):c.708T>G (p.Thr236=)
|
|
|
|
NM_002471.4(MYH6):c.711C>G (p.Val237=)
|
|
|
|
NM_002471.4(MYH6):c.732C>T (p.Arg244=)
|
rs397516779
|
|
|
NM_002471.4(MYH6):c.735+10T>C
|
rs1555334939
|
|
|
NM_002471.4(MYH6):c.735+16C>A
|
rs76202841
|
|
|
NM_002471.4(MYH6):c.736-4C>T
|
|
|
|
NM_002471.4(MYH6):c.736-8G>A
|
rs377383489
|
|
|
NM_002471.4(MYH6):c.736-8G>C
|
rs377383489
|
|
|
NM_002471.4(MYH6):c.762G>A (p.Gly254=)
|
|
|
|
NM_002471.4(MYH6):c.799+11G>A
|
|
|
|
NM_002471.4(MYH6):c.799+18_799+19dup
|
rs1354059537
|
|
|
NM_002471.4(MYH6):c.800-15C>G
|
|
|
|
NM_002471.4(MYH6):c.800-18C>T
|
|
|
|
NM_002471.4(MYH6):c.802C>T (p.Leu268=)
|
rs1225893764
|
|
|
NM_002471.4(MYH6):c.805C>T (p.Leu269=)
|
rs1595063311
|
|
|
NM_002471.4(MYH6):c.828C>T (p.Phe276=)
|
rs2138616807
|
|
|
NM_002471.4(MYH6):c.899-16C>G
|
|
|
|
NM_002471.4(MYH6):c.899-26_899-9del
|
rs1231663081
|
|
|
NM_002471.4(MYH6):c.900C>T (p.Asp300=)
|
|
|
|
NM_002633.3(PGM1):c.1028+13A>G
|
|
|
|
NM_002633.3(PGM1):c.1028+18C>T
|
|
|
|
NM_002633.3(PGM1):c.1029-19T>C
|
|
|
|
NM_002633.3(PGM1):c.1029-8C>G
|
rs752232600
|
|
|
NM_002633.3(PGM1):c.1044A>C (p.Thr348=)
|
|
|
|
NM_002633.3(PGM1):c.105C>T (p.Tyr35=)
|
|
|
|
NM_002633.3(PGM1):c.1065C>A (p.Thr355=)
|
rs773677629
|
|
|
NM_002633.3(PGM1):c.1065C>T (p.Thr355=)
|
rs773677629
|
|
|
NM_002633.3(PGM1):c.108G>A (p.Ala36=)
|
|
|
|
NM_002633.3(PGM1):c.1145-10C>T
|
|
|
|
NM_002633.3(PGM1):c.1145-11C>T
|
|
|
|
NM_002633.3(PGM1):c.1145-6C>G
|
|
|
|
NM_002633.3(PGM1):c.1145-9C>G
|
|
|
|
NM_002633.3(PGM1):c.1191C>A (p.Ala397=)
|
|
|
|
NM_002633.3(PGM1):c.1206A>C (p.Leu402=)
|
rs2100998429
|
|
|
NM_002633.3(PGM1):c.1209C>A (p.Ala403=)
|
|
|
|
NM_002633.3(PGM1):c.1233C>T (p.Asp411=)
|
|
|
|
NM_002633.3(PGM1):c.1239C>T (p.Leu413=)
|
|
|
|
NM_002633.3(PGM1):c.123G>A (p.Gln41=)
|
|
|
|
NM_002633.3(PGM1):c.1254A>G (p.Gln418=)
|
|
|
|
NM_002633.3(PGM1):c.1280+12C>T
|
|
|
|
NM_002633.3(PGM1):c.1281-14G>A
|
|
|
|
NM_002633.3(PGM1):c.1281-15C>T
|
|
|
|
NM_002633.3(PGM1):c.1281-17T>A
|
|
|
|
NM_002633.3(PGM1):c.1281-5T>C
|
|
|
|
NM_002633.3(PGM1):c.1293G>A (p.Glu431=)
|
|
|
|
NM_002633.3(PGM1):c.1299G>A (p.Val433=)
|
|
|
|
NM_002633.3(PGM1):c.129C>T (p.Ile43=)
|
|
|
|
NM_002633.3(PGM1):c.1371G>A (p.Lys457=)
|
|
|
|
NM_002633.3(PGM1):c.1401T>A (p.Thr467=)
|
|
|
|
NM_002633.3(PGM1):c.1413C>T (p.Ala471=)
|
|
|
|
NM_002633.3(PGM1):c.1422T>C (p.Phe474=)
|
|
|
|
NM_002633.3(PGM1):c.1431C>T (p.Ser477=)
|
|
|
|
NM_002633.3(PGM1):c.1455A>G (p.Ser485=)
|
|
|
|
NM_002633.3(PGM1):c.1464+14G>A
|
rs2269238
|
|
|
NM_002633.3(PGM1):c.1464+15G>A
|
rs748510501
|
|
|
NM_002633.3(PGM1):c.1464+9A>T
|
|
|
|
NM_002633.3(PGM1):c.1465-16_1465-15del
|
|
|
|
NM_002633.3(PGM1):c.1496G>A (p.Arg499Gln)
|
rs770023140
|
|
|
NM_002633.3(PGM1):c.1524G>T (p.Gly508=)
|
|
|
|
NM_002633.3(PGM1):c.1530C>T (p.Ala510=)
|
|
|
|
NM_002633.3(PGM1):c.156G>C (p.Arg52=)
|
|
|
|
NM_002633.3(PGM1):c.1600-13A>G
|
|
|
|
NM_002633.3(PGM1):c.1600-15C>G
|
|
|
|
NM_002633.3(PGM1):c.1668T>A (p.Thr556=)
|
|
|
|
NM_002633.3(PGM1):c.1668T>G (p.Thr556=)
|
rs752885355
|
|
|
NM_002633.3(PGM1):c.168G>C (p.Thr56=)
|
|
|
|
NM_002633.3(PGM1):c.171G>A (p.Leu57=)
|
|
|
|
NM_002633.3(PGM1):c.180C>T (p.Gly60=)
|
|
|
|
NM_002633.3(PGM1):c.243C>T (p.Asn81=)
|
|
|
|
NM_002633.3(PGM1):c.246+11C>T
|
|
|
|
NM_002633.3(PGM1):c.246+8A>G
|
|
|
|
NM_002633.3(PGM1):c.247-7C>T
|
rs1570493471
|
|
|
NM_002633.3(PGM1):c.249C>A (p.Ile83=)
|
rs140086116
|
|
|
NM_002633.3(PGM1):c.249C>T (p.Ile83=)
|
rs140086116
|
|
|
NM_002633.3(PGM1):c.261T>C (p.Val87=)
|
|
|
|
NM_002633.3(PGM1):c.282C>G (p.Leu94=)
|
|
|
|
NM_002633.3(PGM1):c.300C>G (p.Ser100=)
|
|
|
|
NM_002633.3(PGM1):c.336C>T (p.Ile112=)
|
|
|
|
NM_002633.3(PGM1):c.357C>T (p.Asn119=)
|
|
|
|
NM_002633.3(PGM1):c.360A>G (p.Pro120=)
|
|
|
|
NM_002633.3(PGM1):c.399T>A (p.Ile133=)
|
|
|
|
NM_002633.3(PGM1):c.409+12G>C
|
|
|
|
NM_002633.3(PGM1):c.410-11T>C
|
|
|
|
NM_002633.3(PGM1):c.410-13G>C
|
|
|
|
NM_002633.3(PGM1):c.410-18T>C
|
|
|
|
NM_002633.3(PGM1):c.414T>C (p.Pro138=)
|
|
|
|
NM_002633.3(PGM1):c.414T>G (p.Pro138=)
|
|
|
|
NM_002633.3(PGM1):c.42C>T (p.Asp14=)
|
|
|
|
NM_002633.3(PGM1):c.48G>A (p.Lys16=)
|
|
|
|
NM_002633.3(PGM1):c.51G>C (p.Pro17=)
|
|
|
|
NM_002633.3(PGM1):c.540G>A (p.Lys180=)
|
|
|
|
NM_002633.3(PGM1):c.557-11del
|
|
|
|
NM_002633.3(PGM1):c.557-5C>T
|
rs2100983821
|
|
|
NM_002633.3(PGM1):c.557-5del
|
|
|
|
NM_002633.3(PGM1):c.60C>T (p.Ser20=)
|
|
|
|
NM_002633.3(PGM1):c.618T>C (p.Ser206=)
|
|
|
|
NM_002633.3(PGM1):c.648C>T (p.Asn216=)
|
|
|
|
NM_002633.3(PGM1):c.666T>C (p.Ile222=)
|
|
|
|
NM_002633.3(PGM1):c.682+20C>T
|
|
|
|
NM_002633.3(PGM1):c.683-6A>G
|
|
|
|
NM_002633.3(PGM1):c.723C>G (p.Leu241=)
|
|
|
|
NM_002633.3(PGM1):c.723C>T (p.Leu241=)
|
|
|
|
NM_002633.3(PGM1):c.729C>T (p.Ala243=)
|
|
|
|
NM_002633.3(PGM1):c.741G>A (p.Ser247=)
|
rs142222746
|
|
|
NM_002633.3(PGM1):c.741G>C (p.Ser247=)
|
rs142222746
|
|
|
NM_002633.3(PGM1):c.753C>T (p.Cys251=)
|
|
|
|
NM_002633.3(PGM1):c.759T>C (p.Pro253=)
|
|
|
|
NM_002633.3(PGM1):c.801C>A (p.Thr267=)
|
|
|
|
NM_002633.3(PGM1):c.816G>C (p.Leu272=)
|
|
|
|
NM_002633.3(PGM1):c.873+10A>G
|
|
|
|
NM_002633.3(PGM1):c.873+7A>T
|
rs1176093923
|
|
|
NM_002633.3(PGM1):c.874-5C>T
|
|
|
|
NM_002633.3(PGM1):c.874-6C>A
|
|
|
|
NM_002633.3(PGM1):c.874-7C>T
|
rs2100988580
|
|
|
NM_002633.3(PGM1):c.903G>A (p.Gly301=)
|
|
|
|
NM_002633.3(PGM1):c.90G>A (p.Gln30=)
|
|
|
|
NM_002633.3(PGM1):c.981G>A (p.Gly327=)
|
|
|
|
NM_002667.5(PLN):c.126C>T (p.Leu42=)
|
|
|
|
NM_002667.5(PLN):c.138T>C (p.Cys46=)
|
rs1583047929
|
|
|
NM_002667.5(PLN):c.156C>A (p.Leu52=)
|
rs1779077253
|
|
|
NM_002667.5(PLN):c.21C>T (p.Leu7=)
|
|
|
|
NM_002667.5(PLN):c.27C>A (p.Arg9=)
|
rs145623013
|
|
|
NM_002667.5(PLN):c.33T>C (p.Ala11=)
|
|
|
|
NM_002667.5(PLN):c.45C>A (p.Ala15=)
|
|
|
|
NM_002667.5(PLN):c.51C>A (p.Thr17=)
|
|
|
|
NM_002667.5(PLN):c.69A>G (p.Gln23=)
|
|
|
|
NM_002667.5(PLN):c.90T>C (p.Asn30=)
|
rs868301643
|
|
|
NM_003140.3(SRY):c.339A>G (p.Ala113=)
|
rs773247144
|
|
|
NM_003280.3(TNNC1):c.102C>A (p.Gly34=)
|
rs1048914110
|
|
|
NM_003280.3(TNNC1):c.108C>T (p.Ile36=)
|
|
|
|
NM_003280.3(TNNC1):c.147C>G (p.Gly49=)
|
|
|
|
NM_003280.3(TNNC1):c.162T>C (p.Pro54=)
|
rs2153229962
|
|
|
NM_003280.3(TNNC1):c.168G>A (p.Glu56=)
|
|
|
|
NM_003280.3(TNNC1):c.169C>T (p.Leu57=)
|
rs2153229961
|
|
|
NM_003280.3(TNNC1):c.171G>A (p.Leu57=)
|
|
|
|
NM_003280.3(TNNC1):c.202+10C>G
|
rs766106971
|
|
|
NM_003280.3(TNNC1):c.202+10C>T
|
rs766106971
|
|
|
NM_003280.3(TNNC1):c.202+13C>T
|
rs2153229956
|
|
|
NM_003280.3(TNNC1):c.202+16C>G
|
|
|
|
NM_003280.3(TNNC1):c.202+19A>G
|
rs954619729
|
|
|
NM_003280.3(TNNC1):c.202+8C>A
|
|
|
|
NM_003280.3(TNNC1):c.203-13dup
|
|
|
|
NM_003280.3(TNNC1):c.203-14C>T
|
|
|
|
NM_003280.3(TNNC1):c.203-17A>G
|
|
|
|
NM_003280.3(TNNC1):c.203-7C>T
|
|
|
|
NM_003280.3(TNNC1):c.203-8A>G
|
rs2153229939
|
|
|
NM_003280.3(TNNC1):c.213G>A (p.Thr71=)
|
rs140287760
|
|
|
NM_003280.3(TNNC1):c.213G>C (p.Thr71=)
|
rs140287760
|
|
|
NM_003280.3(TNNC1):c.219C>T (p.Asp73=)
|
rs2153229937
|
|
|
NM_003280.3(TNNC1):c.225T>C (p.Asp75=)
|
|
|
|
NM_003280.3(TNNC1):c.24+18G>A
|
rs2153230076
|
|
|
NM_003280.3(TNNC1):c.25-14C>T
|
|
|
|
NM_003280.3(TNNC1):c.270A>G (p.Lys90=)
|
rs2153229930
|
|
|
NM_003280.3(TNNC1):c.291G>C (p.Leu97=)
|
rs748288054
|
|
|
NM_003280.3(TNNC1):c.30G>A (p.Glu10=)
|
rs1706344040
|
|
|
NM_003280.3(TNNC1):c.317+7A>G
|
|
|
|
NM_003280.3(TNNC1):c.317+9G>T
|
|
|
|
NM_003280.3(TNNC1):c.318-14C>A
|
|
|
|
NM_003280.3(TNNC1):c.318-7C>T
|
|
|
|
NM_003280.3(TNNC1):c.318-9T>A
|
rs1227381581
|
|
|
NM_003280.3(TNNC1):c.330C>G (p.Gly110=)
|
|
|
|
NM_003280.3(TNNC1):c.351G>A (p.Leu117=)
|
|
|
|
NM_003280.3(TNNC1):c.354G>A (p.Lys118=)
|
rs1578263846
|
|
|
NM_003280.3(TNNC1):c.363G>T (p.Leu121=)
|
|
|
|
NM_003280.3(TNNC1):c.375C>A (p.Gly125=)
|
rs141289590
|
|
|
NM_003280.3(TNNC1):c.375C>T (p.Gly125=)
|
|
|
|
NM_003280.3(TNNC1):c.387G>A (p.Thr129=)
|
rs397516845
|
|
|
NM_003280.3(TNNC1):c.396C>T (p.Asp132=)
|
|
|
|
NM_003280.3(TNNC1):c.399C>T (p.Ile133=)
|
|
|
|
NM_003280.3(TNNC1):c.408C>T (p.Leu136=)
|
|
|
|
NM_003280.3(TNNC1):c.417C>T (p.Asp139=)
|
rs757904305
|
|
|
NM_003280.3(TNNC1):c.435C>T (p.Asp145=)
|
rs267607124
|
|
|
NM_003280.3(TNNC1):c.444C>A (p.Ile148=)
|
|
|
|
NM_003280.3(TNNC1):c.454+15G>A
|
|
|
|
NM_003280.3(TNNC1):c.454+17G>A
|
rs754572435
|
|
|
NM_003280.3(TNNC1):c.454+6dup
|
rs1559615648
|
|
|
NM_003280.3(TNNC1):c.454+8G>C
|
|
|
|
NM_003280.3(TNNC1):c.455-19C>A
|
rs764547083
|
|
|
NM_003280.3(TNNC1):c.455-5C>T
|
rs2153229913
|
|
|
NM_003280.3(TNNC1):c.45G>A (p.Glu15=)
|
rs2153229990
|
|
|
NM_003280.3(TNNC1):c.480G>A (p.Val160=)
|
rs727504896
|
|
|
NM_003280.3(TNNC1):c.51A>G (p.Lys17=)
|
|
|
|
NM_003280.3(TNNC1):c.55+17C>T
|
rs1214563275
|
|
|
NM_003280.3(TNNC1):c.55+20_55+21del
|
|
|
|
NM_003280.3(TNNC1):c.56-13C>T
|
|
|
|
NM_003280.3(TNNC1):c.56-14A>C
|
|
|
|
NM_003280.3(TNNC1):c.56-16C>T
|
|
|
|
NM_003280.3(TNNC1):c.56-17C>T
|
|
|
|
NM_003280.3(TNNC1):c.90C>G (p.Gly30=)
|
rs149647795
|
|
|
NM_003280.3(TNNC1):c.93T>C (p.Ala31=)
|
rs1578264358
|
|
|
NM_003280.3(TNNC1):c.9C>T (p.Asp3=)
|
rs1177135054
|
|
|
NM_003319.4(TTN):c.13282+23498dup
|
rs727503644
|
|
|
NM_003319.4(TTN):c.20966-11dup
|
rs730880371
|
|
|
NM_003476.5(CSRP3):c.108C>T (p.His36=)
|
rs763193066
|
|
|
NM_003476.5(CSRP3):c.112+11T>C
|
|
|
|
NM_003476.5(CSRP3):c.112+12G>A
|
|
|
|
NM_003476.5(CSRP3):c.112+19C>T
|
|
|
|
NM_003476.5(CSRP3):c.112+9G>A
|
rs2133516226
|
|
|
NM_003476.5(CSRP3):c.113-17C>A
|
|
|
|
NM_003476.5(CSRP3):c.113-17C>T
|
|
|
|
NM_003476.5(CSRP3):c.113-20A>T
|
|
|
|
NM_003476.5(CSRP3):c.120C>T (p.Cys40=)
|
|
|
|
NM_003476.5(CSRP3):c.123G>A (p.Arg41=)
|
rs1590104476
|
|
|
NM_003476.5(CSRP3):c.126G>A (p.Lys42=)
|
|
|
|
NM_003476.5(CSRP3):c.141G>T (p.Thr47=)
|
|
|
|
NM_003476.5(CSRP3):c.144A>C (p.Thr48=)
|
|
|
|
NM_003476.5(CSRP3):c.147C>T (p.Val49=)
|
rs576346189
|
|
|
NM_003476.5(CSRP3):c.156T>C (p.His52=)
|
|
|
|
NM_003476.5(CSRP3):c.15C>A (p.Gly5=)
|
rs747959696
|
|
|
NM_003476.5(CSRP3):c.162G>T (p.Ser54=)
|
|
|
|
NM_003476.5(CSRP3):c.198T>C (p.Tyr66=)
|
rs779421059
|
|
|
NM_003476.5(CSRP3):c.201C>A (p.Gly67=)
|
rs557643642
|
|
|
NM_003476.5(CSRP3):c.216G>T (p.Gly72=)
|
rs751348376
|
|
|
NM_003476.5(CSRP3):c.222A>C (p.Gly74=)
|
|
|
|
NM_003476.5(CSRP3):c.231T>C (p.Ala77=)
|
|
|
|
NM_003476.5(CSRP3):c.240C>G (p.Leu80=)
|
|
|
|
NM_003476.5(CSRP3):c.240C>T (p.Leu80=)
|
|
|
|
NM_003476.5(CSRP3):c.255C>A (p.Gly85=)
|
rs752338221
|
|
|
NM_003476.5(CSRP3):c.264C>T (p.Leu88=)
|
rs758256351
|
|
|
NM_003476.5(CSRP3):c.270G>C (p.Leu90=)
|
|
|
|
NM_003476.5(CSRP3):c.273G>A (p.Gln91=)
|
|
|
|
NM_003476.5(CSRP3):c.282-15G>A
|
|
|
|
NM_003476.5(CSRP3):c.282-19A>G
|
|
|
|
NM_003476.5(CSRP3):c.285C>A (p.Ser95=)
|
rs45483799
|
|
|
NM_003476.5(CSRP3):c.285C>T (p.Ser95=)
|
|
|
|
NM_003476.5(CSRP3):c.294G>C (p.Pro98=)
|
rs142832902
|
|
|
NM_003476.5(CSRP3):c.324C>T (p.Ser108=)
|
|
|
|
NM_003476.5(CSRP3):c.345A>G (p.Gly115=)
|
|
|
|
NM_003476.5(CSRP3):c.348G>A (p.Glu116=)
|
rs2133508450
|
|
|
NM_003476.5(CSRP3):c.36C>T (p.Ala12=)
|
rs2133516477
|
|
|
NM_003476.5(CSRP3):c.381C>A (p.Val127=)
|
rs2133508364
|
|
|
NM_003476.5(CSRP3):c.411C>A (p.Gly137=)
|
rs1411552973
|
|
|
NM_003476.5(CSRP3):c.414+7C>A
|
|
|
|
NM_003476.5(CSRP3):c.414+7C>T
|
|
|
|
NM_003476.5(CSRP3):c.414+8C>T
|
|
|
|
NM_003476.5(CSRP3):c.415-11G>A
|
|
|
|
NM_003476.5(CSRP3):c.415-11G>T
|
rs886048097
|
|
|
NM_003476.5(CSRP3):c.415-16T>C
|
rs2133507025
|
|
|
NM_003476.5(CSRP3):c.415-18C>G
|
|
|
|
NM_003476.5(CSRP3):c.415-6C>T
|
|
|
|
NM_003476.5(CSRP3):c.480T>C (p.Thr160=)
|
rs2133506829
|
|
|
NM_003476.5(CSRP3):c.508+17A>G
|
rs373822409
|
|
|
NM_003476.5(CSRP3):c.508+17A>T
|
rs373822409
|
|
|
NM_003476.5(CSRP3):c.508+7G>T
|
|
|
|
NM_003476.5(CSRP3):c.508+9_508+15dup
|
|
|
|
NM_003476.5(CSRP3):c.509-20C>T
|
|
|
|
NM_003476.5(CSRP3):c.509-3_509-2del
|
rs397516858
|
|
|
NM_003476.5(CSRP3):c.509-5C>T
|
rs1447306323
|
|
|
NM_003476.5(CSRP3):c.509-8A>G
|
rs2133503964
|
|
|
NM_003476.5(CSRP3):c.51C>A (p.Val17=)
|
|
|
|
NM_003673.4(TCAP):c.102C>G (p.Pro34=)
|
rs1060504770
|
|
|
NM_003673.4(TCAP):c.110+15G>T
|
|
|
|
NM_003673.4(TCAP):c.110+16C>G
|
rs762433998
|
|
|
NM_003673.4(TCAP):c.110+18A>G
|
rs1414763689
|
|
|
NM_003673.4(TCAP):c.110+8T>G
|
|
|
|
NM_003673.4(TCAP):c.111-14T>A
|
|
|
|
NM_003673.4(TCAP):c.111-15C>G
|
|
|
|
NM_003673.4(TCAP):c.111-15C>T
|
|
|
|
NM_003673.4(TCAP):c.111-16C>T
|
rs199865814
|
|
|
NM_003673.4(TCAP):c.117C>T (p.Ser39=)
|
rs759893644
|
|
|
NM_003673.4(TCAP):c.129G>A (p.Glu43=)
|
rs1279340835
|
|
|
NM_003673.4(TCAP):c.165G>C (p.Gly55=)
|
|
|
|
NM_003673.4(TCAP):c.192G>A (p.Ser64=)
|
rs771585295
|
|
|
NM_003673.4(TCAP):c.192G>T (p.Ser64=)
|
rs771585295
|
|
|
NM_003673.4(TCAP):c.199C>T (p.Leu67=)
|
|
|
|
NM_003673.4(TCAP):c.201G>A (p.Leu67=)
|
rs1567865110
|
|
|
NM_003673.4(TCAP):c.208C>A (p.Arg70=)
|
rs775636212
|
|
|
NM_003673.4(TCAP):c.222C>T (p.Leu74=)
|
|
|
|
NM_003673.4(TCAP):c.225C>A (p.Gly75=)
|
|
|
|
NM_003673.4(TCAP):c.240G>A (p.Glu80=)
|
rs758101613
|
|
|
NM_003673.4(TCAP):c.247C>T (p.Leu83=)
|
rs1597805549
|
|
|
NM_003673.4(TCAP):c.276C>T (p.Pro92=)
|
rs147979713
|
|
|
NM_003673.4(TCAP):c.291C>G (p.Ala97=)
|
|
|
|
NM_003673.4(TCAP):c.330C>A (p.Pro110=)
|
rs2145073932
|
|
|
NM_003673.4(TCAP):c.33G>C (p.Ser11=)
|
|
|
|
NM_003673.4(TCAP):c.33G>T (p.Ser11=)
|
rs762224660
|
|
|
NM_003673.4(TCAP):c.346C>T (p.Leu116=)
|
rs876657586
|
|
|
NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del)
|
rs397516862
|
|
|
NM_003673.4(TCAP):c.354G>A (p.Ala118=)
|
rs1453601187
|
|
|
NM_003673.4(TCAP):c.354G>T (p.Ala118=)
|
rs1453601187
|
|
|
NM_003673.4(TCAP):c.36G>A (p.Glu12=)
|
rs2145072224
|
|
|
NM_003673.4(TCAP):c.381T>C (p.Cys127=)
|
rs1597805687
|
|
|
NM_003673.4(TCAP):c.387C>T (p.Asp129=)
|
rs768942598
|
|
|
NM_003673.4(TCAP):c.420G>T (p.Leu140=)
|
rs2145074488
|
|
|
NM_003673.4(TCAP):c.426T>G (p.Pro142=)
|
rs1397854344
|
|
|
NM_003673.4(TCAP):c.435T>G (p.Pro145=)
|
|
|
|
NM_003673.4(TCAP):c.468G>C (p.Leu156=)
|
rs1481082968
|
|
|
NM_003673.4(TCAP):c.78G>A (p.Lys26=)
|
|
|
|
NM_003673.4(TCAP):c.82C>T (p.Leu28=)
|
|
|
|
NM_003673.4(TCAP):c.87A>C (p.Thr29=)
|
rs144741021
|
|
|
NM_003673.4(TCAP):c.93C>A (p.Ser31=)
|
|
|
|
NM_003803.4(MYOM1):c.1022+11A>G
|
rs761277628
|
|
|
NM_003803.4(MYOM1):c.1022+16T>C
|
|
|
|
NM_003803.4(MYOM1):c.1023-11T>C
|
|
|
|
NM_003803.4(MYOM1):c.1023-20A>G
|
|
|
|
NM_003803.4(MYOM1):c.1023-8T>C
|
|
|
|
NM_003803.4(MYOM1):c.105C>G (p.Arg35=)
|
|
|
|
NM_003803.4(MYOM1):c.1086G>A (p.Ser362=)
|
rs371620091
|
|
|
NM_003803.4(MYOM1):c.1086G>C (p.Ser362=)
|
rs371620091
|
|
|
NM_003803.4(MYOM1):c.108C>A (p.Ser36=)
|
rs1334296466
|
|
|
NM_003803.4(MYOM1):c.108C>T (p.Ser36=)
|
|
|
|
NM_003803.4(MYOM1):c.1112-14G>T
|
|
|
|
NM_003803.4(MYOM1):c.1112-6C>T
|
rs919754167
|
|
|
NM_003803.4(MYOM1):c.1113G>A (p.Arg371=)
|
rs2144089371
|
|
|
NM_003803.4(MYOM1):c.1116T>C (p.Tyr372=)
|
|
|
|
NM_003803.4(MYOM1):c.1174+15A>G
|
|
|
|
NM_003803.4(MYOM1):c.1174+16C>T
|
|
|
|
NM_003803.4(MYOM1):c.1174+17A>G
|
|
|
|
NM_003803.4(MYOM1):c.1175-14A>G
|
|
|
|
NM_003803.4(MYOM1):c.1175-4C>A
|
rs1437226766
|
|
|
NM_003803.4(MYOM1):c.1212G>A (p.Glu404=)
|
rs2144068435
|
|
|
NM_003803.4(MYOM1):c.1320G>A (p.Glu440=)
|
|
|
|
NM_003803.4(MYOM1):c.132G>C (p.Thr44=)
|
rs372736572
|
|
|
NM_003803.4(MYOM1):c.1340-17T>C
|
|
|
|
NM_003803.4(MYOM1):c.1340-18C>T
|
|
|
|
NM_003803.4(MYOM1):c.1356A>G (p.Pro452=)
|
|
|
|
NM_003803.4(MYOM1):c.1389G>A (p.Glu463=)
|
|
|
|
NM_003803.4(MYOM1):c.1404A>G (p.Thr468=)
|
|
|
|
NM_003803.4(MYOM1):c.1431A>G (p.Glu477=)
|
|
|
|
NM_003803.4(MYOM1):c.1512A>G (p.Ala504=)
|
|
|
|
NM_003803.4(MYOM1):c.153C>T (p.Ser51=)
|
|
|
|
NM_003803.4(MYOM1):c.1563C>G (p.Ala521=)
|
|
|
|
NM_003803.4(MYOM1):c.156C>T (p.Ala52=)
|
|
|
|
NM_003803.4(MYOM1):c.159G>A (p.Ala53=)
|
|
|
|
NM_003803.4(MYOM1):c.1614G>A (p.Gly538=)
|
|
|
|
NM_003803.4(MYOM1):c.1626C>T (p.Leu542=)
|
|
|
|
NM_003803.4(MYOM1):c.1632T>C (p.Tyr544=)
|
|
|
|
NM_003803.4(MYOM1):c.1643+11A>T
|
rs2144006615
|
|
|
NM_003803.4(MYOM1):c.1644-14G>A
|
|
|
|
NM_003803.4(MYOM1):c.1644-16A>G
|
|
|
|
NM_003803.4(MYOM1):c.1656C>T (p.Gly552=)
|
|
|
|
NM_003803.4(MYOM1):c.165C>T (p.Arg55=)
|
|
|
|
NM_003803.4(MYOM1):c.1671G>A (p.Ser557=)
|
|
|
|
NM_003803.4(MYOM1):c.1725C>T (p.Ile575=)
|
|
|
|
NM_003803.4(MYOM1):c.1733G>T (p.Arg578Leu)
|
rs200374196
|
|
|
NM_003803.4(MYOM1):c.1779T>C (p.Gly593=)
|
rs538016001
|
|
|
NM_003803.4(MYOM1):c.1803C>G (p.Pro601=)
|
rs371861150
|
|
|
NM_003803.4(MYOM1):c.180C>T (p.Ala60=)
|
|
|
|
NM_003803.4(MYOM1):c.1821G>A (p.Pro607=)
|
|
|
|
NM_003803.4(MYOM1):c.1843+10T>C
|
|
|
|
NM_003803.4(MYOM1):c.1843+11T>A
|
|
|
|
NM_003803.4(MYOM1):c.1843+12T>G
|
|
|
|
NM_003803.4(MYOM1):c.1844-14T>C
|
rs2143977465
|
|
|
NM_003803.4(MYOM1):c.1844-17T>C
|
|
|
|
NM_003803.4(MYOM1):c.1844-18A>T
|
|
|
|
NM_003803.4(MYOM1):c.1875C>T (p.Ile625=)
|
|
|
|
NM_003803.4(MYOM1):c.1900+6_1900+8del
|
rs754148244
|
|
|
NM_003803.4(MYOM1):c.1901-12G>A
|
rs1269724179
|
|
|
NM_003803.4(MYOM1):c.1901-4T>G
|
rs1054418598
|
|
|
NM_003803.4(MYOM1):c.1901-7T>C
|
|
|
|
NM_003803.4(MYOM1):c.1901-9_1901-7del
|
rs764575615
|
|
|
NM_003803.4(MYOM1):c.1905T>C (p.Gly635=)
|
|
|
|
NM_003803.4(MYOM1):c.1911G>A (p.Val637=)
|
rs1166836325
|
|
|
NM_003803.4(MYOM1):c.1917C>T (p.Gly639=)
|
rs761762328
|
|
|
NM_003803.4(MYOM1):c.1953G>C (p.Arg651=)
|
|
|
|
NM_003803.4(MYOM1):c.1977G>A (p.Lys659=)
|
|
|
|
NM_003803.4(MYOM1):c.2016T>C (p.Phe672=)
|
rs1490810978
|
|
|
NM_003803.4(MYOM1):c.2025+20A>G
|
|
|
|
NM_003803.4(MYOM1):c.2026-7G>T
|
|
|
|
NM_003803.4(MYOM1):c.204C>T (p.Ser68=)
|
rs2144259345
|
|
|
NM_003803.4(MYOM1):c.2052G>A (p.Gln684=)
|
|
|
|
NM_003803.4(MYOM1):c.2058G>A (p.Val686=)
|
|
|
|
NM_003803.4(MYOM1):c.2067G>A (p.Glu689=)
|
rs1297171246
|
|
|
NM_003803.4(MYOM1):c.2079G>A (p.Lys693=)
|
rs1014448013
|
|
|
NM_003803.4(MYOM1):c.2103C>T (p.Asp701=)
|
rs1229033915
|
|
|
NM_003803.4(MYOM1):c.2133T>C (p.Arg711=)
|
|
|
|
NM_003803.4(MYOM1):c.2209+9C>A
|
|
|
|
NM_003803.4(MYOM1):c.2210-11C>T
|
|
|
|
NM_003803.4(MYOM1):c.2221G>C (p.Ala741Pro)
|
rs546357155
|
|
|
NM_003803.4(MYOM1):c.2226T>A (p.Pro742=)
|
|
|
|
NM_003803.4(MYOM1):c.2245A>C (p.Arg749=)
|
rs1285069599
|
|
|
NM_003803.4(MYOM1):c.2274G>A (p.Ser758=)
|
|
|
|
NM_003803.4(MYOM1):c.2274G>T (p.Ser758=)
|
|
|
|
NM_003803.4(MYOM1):c.2295C>T (p.Ala765=)
|
rs927104464
|
|
|
NM_003803.4(MYOM1):c.2301G>A (p.Glu767=)
|
|
|
|
NM_003803.4(MYOM1):c.2307C>T (p.Val769=)
|
|
|
|
NM_003803.4(MYOM1):c.2373G>A (p.Val791=)
|
|
|
|
NM_003803.4(MYOM1):c.2379C>A (p.Gly793=)
|
rs776183622
|
|
|
NM_003803.4(MYOM1):c.2384+14G>T
|
rs747263314
|
|
|
NM_003803.4(MYOM1):c.2385-20A>T
|
|
|
|
NM_003803.4(MYOM1):c.2394T>C (p.Cys798=)
|
|
|
|
NM_003803.4(MYOM1):c.2397T>C (p.His799=)
|
rs2143890102
|
|
|
NM_003803.4(MYOM1):c.249T>C (p.Ser83=)
|
|
|
|
NM_003803.4(MYOM1):c.2506+16A>G
|
|
|
|
NM_003803.4(MYOM1):c.2506+20C>T
|
rs2079872927
|
|
|
NM_003803.4(MYOM1):c.2507-4_2507-3del
|
rs2143880056
|
|
|
NM_003803.4(MYOM1):c.251G>C (p.Arg84Pro)
|
rs756788476
|
|
|
NM_003803.4(MYOM1):c.2568C>T (p.Ala856=)
|
rs1386023582
|
|
|
NM_003803.4(MYOM1):c.2595C>T (p.Ser865=)
|
|
|
|
NM_003803.4(MYOM1):c.2598G>C (p.Pro866=)
|
rs778413922
|
|
|
NM_003803.4(MYOM1):c.2598G>T (p.Pro866=)
|
|
|
|
NM_003803.4(MYOM1):c.2610G>A (p.Gln870=)
|
rs750751400
|
|
|
NM_003803.4(MYOM1):c.2643A>G (p.Lys881=)
|
rs1295554112
|
|
|
NM_003803.4(MYOM1):c.2670C>T (p.Asn890=)
|
|
|
|
NM_003803.4(MYOM1):c.2742G>A (p.Ala914=)
|
rs773247406
|
|
|
NM_003803.4(MYOM1):c.2742G>T (p.Ala914=)
|
|
|
|
NM_003803.4(MYOM1):c.2794+7G>A
|
|
|
|
NM_003803.4(MYOM1):c.2799A>G (p.Pro933=)
|
|
|
|
NM_003803.4(MYOM1):c.2895T>C (p.Ile965=)
|
rs1453527364
|
|
|
NM_003803.4(MYOM1):c.290+17C>T
|
rs2144258582
|
|
|
NM_003803.4(MYOM1):c.290+20C>T
|
rs1470128785
|
|
|
NM_003803.4(MYOM1):c.290+7C>G
|
|
|
|
NM_003803.4(MYOM1):c.290+8G>A
|
rs138605134
|
|
|
NM_003803.4(MYOM1):c.2970T>C (p.Ala990=)
|
|
|
|
NM_003803.4(MYOM1):c.2988C>T (p.Tyr996=)
|
rs756218034
|
|
|
NM_003803.4(MYOM1):c.2991+18T>C
|
|
|
|
NM_003803.4(MYOM1):c.2991+8C>T
|
rs138916150
|
|
|
NM_003803.4(MYOM1):c.2992-12T>C
|
|
|
|
NM_003803.4(MYOM1):c.3021T>C (p.Tyr1007=)
|
rs760314920
|
|
|
NM_003803.4(MYOM1):c.3039C>A (p.Ala1013=)
|
rs1473447534
|
|
|
NM_003803.4(MYOM1):c.3054G>A (p.Gly1018=)
|
rs557791716
|
|
|
NM_003803.4(MYOM1):c.3084C>T (p.Cys1028=)
|
rs750152279
|
|
|
NM_003803.4(MYOM1):c.3119-11C>T
|
|
|
|
NM_003803.4(MYOM1):c.3119-12T>A
|
rs1452176471
|
|
|
NM_003803.4(MYOM1):c.3119-13C>T
|
|
|
|
NM_003803.4(MYOM1):c.3119-14TC[5]
|
rs370426885
|
|
|
NM_003803.4(MYOM1):c.3119-14TC[7]
|
|
|
|
NM_003803.4(MYOM1):c.3138G>A (p.Lys1046=)
|
|
|
|
NM_003803.4(MYOM1):c.3159C>T (p.Asp1053=)
|
|
|
|
NM_003803.4(MYOM1):c.3163C>T (p.Leu1055=)
|
|
|
|
NM_003803.4(MYOM1):c.3183G>T (p.Pro1061=)
|
rs374873325
|
|
|
NM_003803.4(MYOM1):c.3195C>T (p.Ser1065=)
|
rs185366609
|
|
|
NM_003803.4(MYOM1):c.3229T>C (p.Leu1077=)
|
rs769859396
|
|
|
NM_003803.4(MYOM1):c.3231G>A (p.Leu1077=)
|
rs1060504724
|
|
|
NM_003803.4(MYOM1):c.3243G>A (p.Lys1081=)
|
rs1060504726
|
|
|
NM_003803.4(MYOM1):c.3258G>A (p.Gln1086=)
|
|
|
|
NM_003803.4(MYOM1):c.3267G>A (p.Gly1089=)
|
|
|
|
NM_003803.4(MYOM1):c.3279G>A (p.Ala1093=)
|
|
|
|
NM_003803.4(MYOM1):c.3291C>T (p.Asn1097=)
|
rs201092091
|
|
|
NM_003803.4(MYOM1):c.3303+8G>A
|
|
|
|
NM_003803.4(MYOM1):c.3321G>A (p.Glu1107=)
|
rs1189919508
|
|
|
NM_003803.4(MYOM1):c.3330C>G (p.Ser1110Arg)
|
rs760462923
|
|
|
NM_003803.4(MYOM1):c.3333C>T (p.Tyr1111=)
|
|
|
|
NM_003803.4(MYOM1):c.334T>C (p.Leu112=)
|
rs905433850
|
|
|
NM_003803.4(MYOM1):c.336G>A (p.Leu112=)
|
rs1598759225
|
|
|
NM_003803.4(MYOM1):c.3402G>A (p.Val1134=)
|
rs2079538967
|
|
|
NM_003803.4(MYOM1):c.3426A>G (p.Lys1142=)
|
rs1598671929
|
|
|
NM_003803.4(MYOM1):c.3435T>C (p.Val1145=)
|
|
|
|
NM_003803.4(MYOM1):c.3507C>T (p.Phe1169=)
|
|
|
|
NM_003803.4(MYOM1):c.3549A>C (p.Arg1183=)
|
rs746770206
|
|
|
NM_003803.4(MYOM1):c.3550T>C (p.Leu1184=)
|
rs2079392549
|
|
|
NM_003803.4(MYOM1):c.3558C>T (p.Val1186=)
|
|
|
|
NM_003803.4(MYOM1):c.3573C>T (p.Asn1191=)
|
rs2143762684
|
|
|
NM_003803.4(MYOM1):c.3575+10A>C
|
|
|
|
NM_003803.4(MYOM1):c.3575+20C>G
|
|
|
|
NM_003803.4(MYOM1):c.3576-11T>C
|
rs2079361363
|
|
|
NM_003803.4(MYOM1):c.3576-16A>G
|
|
|
|
NM_003803.4(MYOM1):c.3576-4G>A
|
|
|
|
NM_003803.4(MYOM1):c.3579G>A (p.Thr1193=)
|
rs575759850
|
|
|
NM_003803.4(MYOM1):c.3579G>T (p.Thr1193=)
|
rs575759850
|
|
|
NM_003803.4(MYOM1):c.3618T>C (p.Gly1206=)
|
rs1555617218
|
|
|
NM_003803.4(MYOM1):c.3636A>T (p.Val1212=)
|
rs760952047
|
|
|
NM_003803.4(MYOM1):c.3682+14C>G
|
rs917603170
|
|
|
NM_003803.4(MYOM1):c.3683-9C>T
|
rs1060504725
|
|
|
NM_003803.4(MYOM1):c.3727+10del
|
|
|
|
NM_003803.4(MYOM1):c.3727+17C>T
|
|
|
|
NM_003803.4(MYOM1):c.3727+8T>G
|
|
|
|
NM_003803.4(MYOM1):c.3728-10_3728-9del
|
|
|
|
NM_003803.4(MYOM1):c.372G>A (p.Leu124=)
|
|
|
|
NM_003803.4(MYOM1):c.372G>C (p.Leu124=)
|
|
|
|
NM_003803.4(MYOM1):c.3748T>C (p.Leu1250=)
|
|
|
|
NM_003803.4(MYOM1):c.3801G>A (p.Glu1267=)
|
|
|
|
NM_003803.4(MYOM1):c.3807G>C (p.Leu1269=)
|
rs2143726399
|
|
|
NM_003803.4(MYOM1):c.3831C>T (p.Tyr1277=)
|
rs1234384082
|
|
|
NM_003803.4(MYOM1):c.3864+12A>G
|
|
|
|
NM_003803.4(MYOM1):c.3891C>T (p.Asn1297=)
|
|
|
|
NM_003803.4(MYOM1):c.3897C>T (p.Gly1299=)
|
|
|
|
NM_003803.4(MYOM1):c.3903C>T (p.Ile1301=)
|
|
|
|
NM_003803.4(MYOM1):c.3924A>G (p.Leu1308=)
|
rs2143711482
|
|
|
NM_003803.4(MYOM1):c.3951T>C (p.Thr1317=)
|
|
|
|
NM_003803.4(MYOM1):c.3999C>G (p.Leu1333=)
|
rs572955495
|
|
|
NM_003803.4(MYOM1):c.4009+12G>A
|
|
|
|
NM_003803.4(MYOM1):c.4009+16A>C
|
|
|
|
NM_003803.4(MYOM1):c.4044G>A (p.Gln1348=)
|
rs1396783438
|
|
|
NM_003803.4(MYOM1):c.4053A>G (p.Glu1351=)
|
|
|
|
NM_003803.4(MYOM1):c.4069+14G>A
|
|
|
|
NM_003803.4(MYOM1):c.4069+17G>A
|
|
|
|
NM_003803.4(MYOM1):c.4070-14T>C
|
|
|
|
NM_003803.4(MYOM1):c.4137+10A>G
|
|
|
|
NM_003803.4(MYOM1):c.4137+17T>A
|
|
|
|
NM_003803.4(MYOM1):c.4251+20A>T
|
|
|
|
NM_003803.4(MYOM1):c.4251+8A>G
|
rs2079148854
|
|
|
NM_003803.4(MYOM1):c.4252-10T>A
|
|
|
|
NM_003803.4(MYOM1):c.4252-10del
|
|
|
|
NM_003803.4(MYOM1):c.4252-12A>G
|
rs2143688243
|
|
|
NM_003803.4(MYOM1):c.4296T>C (p.Asp1432=)
|
|
|
|
NM_003803.4(MYOM1):c.431+13T>C
|
|
|
|
NM_003803.4(MYOM1):c.432-10T>C
|
rs2144151728
|
|
|
NM_003803.4(MYOM1):c.4339+9A>G
|
rs2143687748
|
|
|
NM_003803.4(MYOM1):c.4340-12C>A
|
|
|
|
NM_003803.4(MYOM1):c.4340-7T>C
|
|
|
|
NM_003803.4(MYOM1):c.4378+11_4378+13del
|
|
|
|
NM_003803.4(MYOM1):c.438G>A (p.Lys146=)
|
rs2144151640
|
|
|
NM_003803.4(MYOM1):c.4404C>A (p.Ile1468=)
|
|
|
|
NM_003803.4(MYOM1):c.4416C>T (p.Ala1472=)
|
|
|
|
NM_003803.4(MYOM1):c.4484+7A>C
|
rs2143682637
|
|
|
NM_003803.4(MYOM1):c.4485-14_4485-12del
|
rs2143661423
|
|
|
NM_003803.4(MYOM1):c.4485-5C>T
|
rs773488151
|
|
|
NM_003803.4(MYOM1):c.4488G>A (p.Gly1496=)
|
rs748455963
|
|
|
NM_003803.4(MYOM1):c.4509C>T (p.Asp1503=)
|
rs372479799
|
|
|
NM_003803.4(MYOM1):c.4569G>A (p.Pro1523=)
|
|
|
|
NM_003803.4(MYOM1):c.456T>G (p.Thr152=)
|
|
|
|
NM_003803.4(MYOM1):c.4644A>G (p.Gly1548=)
|
|
|
|
NM_003803.4(MYOM1):c.4648+8_4648+9del
|
|
|
|
NM_003803.4(MYOM1):c.4649-12T>C
|
|
|
|
NM_003803.4(MYOM1):c.4649-15T>A
|
|
|
|
NM_003803.4(MYOM1):c.4649-15T>C
|
|
|
|
NM_003803.4(MYOM1):c.4649-15T>G
|
|
|
|
NM_003803.4(MYOM1):c.4650A>G (p.Ala1550=)
|
|
|
|
NM_003803.4(MYOM1):c.4685+8C>T
|
rs1598646669
|
|
|
NM_003803.4(MYOM1):c.4686-17G>C
|
rs199520989
|
|
|
NM_003803.4(MYOM1):c.4686-3_4686-2del
|
rs2079010557
|
|
|
NM_003803.4(MYOM1):c.4708+7A>G
|
|
|
|
NM_003803.4(MYOM1):c.4709-10A>G
|
|
|
|
NM_003803.4(MYOM1):c.4709-12del
|
|
|
|
NM_003803.4(MYOM1):c.4709-7C>T
|
|
|
|
NM_003803.4(MYOM1):c.4746C>G (p.Val1582=)
|
rs1202625245
|
|
|
NM_003803.4(MYOM1):c.4764+7_4764+13del
|
|
|
|
NM_003803.4(MYOM1):c.4779T>C (p.Thr1593=)
|
|
|
|
NM_003803.4(MYOM1):c.4803T>C (p.Pro1601=)
|
rs1382552576
|
|
|
NM_003803.4(MYOM1):c.4803T>G (p.Pro1601=)
|
|
|
|
NM_003803.4(MYOM1):c.4819T>C (p.Leu1607=)
|
rs2143602710
|
|
|
NM_003803.4(MYOM1):c.4830G>A (p.Glu1610=)
|
rs1555613121
|
|
|
NM_003803.4(MYOM1):c.4848C>T (p.Asp1616=)
|
rs201952488
|
|
|
NM_003803.4(MYOM1):c.4863C>T (p.Leu1621=)
|
|
|
|
NM_003803.4(MYOM1):c.4866G>A (p.Lys1622=)
|
rs2143602286
|
|
|
NM_003803.4(MYOM1):c.4875T>G (p.Ala1625=)
|
|
|
|
NM_003803.4(MYOM1):c.4887G>A (p.Ala1629=)
|
rs567254536
|
|
|
NM_003803.4(MYOM1):c.4902C>T (p.Asn1634=)
|
|
|
|
NM_003803.4(MYOM1):c.4908G>A (p.Val1636=)
|
rs531803971
|
|
|
NM_003803.4(MYOM1):c.4923G>A (p.Ser1641=)
|
rs1393320836
|
|
|
NM_003803.4(MYOM1):c.4929A>G (p.Lys1643=)
|
|
|
|
NM_003803.4(MYOM1):c.4932C>T (p.Tyr1644=)
|
|
|
|
NM_003803.4(MYOM1):c.4956T>C (p.Tyr1652=)
|
|
|
|
NM_003803.4(MYOM1):c.4962G>A (p.Ser1654=)
|
rs774192177
|
|
|
NM_003803.4(MYOM1):c.4971C>T (p.Ser1657=)
|
|
|
|
NM_003803.4(MYOM1):c.4977C>T (p.Phe1659=)
|
|
|
|
NM_003803.4(MYOM1):c.5045dup (p.Lys1683fs)
|
rs573184538
|
|
|
NM_003803.4(MYOM1):c.537A>G (p.Thr179=)
|
|
|
|
NM_003803.4(MYOM1):c.568_603del (p.Thr190_Gln201del)
|
rs745347160
|
|
|
NM_003803.4(MYOM1):c.57C>T (p.Asn19=)
|
rs781278462
|
|
|
NM_003803.4(MYOM1):c.66G>T (p.Val22=)
|
|
|
|
NM_003803.4(MYOM1):c.717G>A (p.Lys239=)
|
|
|
|
NM_003803.4(MYOM1):c.723G>A (p.Arg241=)
|
rs955122698
|
|
|
NM_003803.4(MYOM1):c.771+13A>C
|
|
|
|
NM_003803.4(MYOM1):c.772-16A>C
|
|
|
|
NM_003803.4(MYOM1):c.772-4T>C
|
|
|
|
NM_003803.4(MYOM1):c.789A>G (p.Thr263=)
|
|
|
|
NM_003803.4(MYOM1):c.7T>C (p.Leu3=)
|
|
|
|
NM_003803.4(MYOM1):c.927G>C (p.Thr309=)
|
|
|
|
NM_003803.4(MYOM1):c.930-15T>A
|
|
|
|
NM_003803.4(MYOM1):c.979ATT[1] (p.Ile328del)
|
rs765548922
|
|
|
NM_003803.4(MYOM1):c.995A>G (p.Tyr332Cys)
|
rs552115876
|
|
|
NM_003803.4(MYOM1):c.9G>A (p.Leu3=)
|
|
|
|
NM_004100.5(EYA4):c.1029C>T (p.Thr343=)
|
|
|
|
NM_004100.5(EYA4):c.1065C>A (p.Gly355=)
|
|
|
|
NM_004100.5(EYA4):c.1086G>A (p.Pro362=)
|
|
|
|
NM_004100.5(EYA4):c.1107+11T>C
|
|
|
|
NM_004100.5(EYA4):c.1107+12C>T
|
|
|
|
NM_004100.5(EYA4):c.1107+16C>A
|
|
|
|
NM_004100.5(EYA4):c.1107+16C>G
|
|
|
|
NM_004100.5(EYA4):c.1107+19A>T
|
rs1562471490
|
|
|
NM_004100.5(EYA4):c.1107+7C>G
|
rs1377200434
|
|
|
NM_004100.5(EYA4):c.1108-13T>G
|
|
|
|
NM_004100.5(EYA4):c.1108-19dup
|
|
|
|
NM_004100.5(EYA4):c.1156C>T (p.Leu386=)
|
|
|
|
NM_004100.5(EYA4):c.1167G>A (p.Gly389=)
|
|
|
|
NM_004100.5(EYA4):c.1173T>C (p.Tyr391=)
|
|
|
|
NM_004100.5(EYA4):c.1191+18_1191+20dup
|
|
|
|
NM_004100.5(EYA4):c.1192-13A>G
|
rs754650520
|
|
|
NM_004100.5(EYA4):c.1192-14C>T
|
|
|
|
NM_004100.5(EYA4):c.1192-20T>C
|
|
|
|
NM_004100.5(EYA4):c.1192-24_1192-20del
|
|
|
|
NM_004100.5(EYA4):c.1197C>A (p.Pro399=)
|
rs373910569
|
|
|
NM_004100.5(EYA4):c.1245T>C (p.Asn415=)
|
|
|
|
NM_004100.5(EYA4):c.1281+20_1281+21inv
|
|
|
|
NM_004100.5(EYA4):c.1282-16C>G
|
|
|
|
NM_004100.5(EYA4):c.1282-6T>A
|
|
|
|
NM_004100.5(EYA4):c.1296T>G (p.Val432=)
|
rs1799264613
|
|
|
NM_004100.5(EYA4):c.1340+16_1340+19del
|
|
|
|
NM_004100.5(EYA4):c.1340+19T>C
|
|
|
|
NM_004100.5(EYA4):c.1340+20A>G
|
|
|
|
NM_004100.5(EYA4):c.1341-16A>T
|
|
|
|
NM_004100.5(EYA4):c.1341-17T>C
|
|
|
|
NM_004100.5(EYA4):c.1359T>C (p.Thr453=)
|
|
|
|
NM_004100.5(EYA4):c.1386T>C (p.Ser462=)
|
|
|
|
NM_004100.5(EYA4):c.1404A>G (p.Pro468=)
|
|
|
|
NM_004100.5(EYA4):c.141T>G (p.Thr47=)
|
|
|
|
NM_004100.5(EYA4):c.1464A>G (p.Val488=)
|
|
|
|
NM_004100.5(EYA4):c.1502-11T>C
|
rs1260772418
|
|
|
NM_004100.5(EYA4):c.1502-12T>C
|
|
|
|
NM_004100.5(EYA4):c.1512C>T (p.Gly504=)
|
|
|
|
NM_004100.5(EYA4):c.1518C>G (p.Ala506=)
|
|
|
|
NM_004100.5(EYA4):c.1521G>A (p.Lys507=)
|
|
|
|
NM_004100.5(EYA4):c.1566A>T (p.Thr522=)
|
|
|
|
NM_004100.5(EYA4):c.156A>G (p.Lys52=)
|
|
|
|
NM_004100.5(EYA4):c.1616+14T>A
|
|
|
|
NM_004100.5(EYA4):c.1616+9A>C
|
rs1799507815
|
|
|
NM_004100.5(EYA4):c.1620T>C (p.Ser540=)
|
rs200224388
|
|
|
NM_004100.5(EYA4):c.1647A>T (p.Thr549=)
|
|
|
|
NM_004100.5(EYA4):c.1656G>A (p.Leu552=)
|
|
|
|
NM_004100.5(EYA4):c.1659C>T (p.Ile553=)
|
rs1345813435
|
|
|
NM_004100.5(EYA4):c.1665A>T (p.Ala555=)
|
rs1583560997
|
|
|
NM_004100.5(EYA4):c.1677T>A (p.Val559=)
|
rs2128812082
|
|
|
NM_004100.5(EYA4):c.1680A>C (p.Leu560=)
|
rs535466937
|
|
|
NM_004100.5(EYA4):c.1707C>G (p.Pro569=)
|
rs1197553602
|
|
|
NM_004100.5(EYA4):c.1707C>T (p.Pro569=)
|
rs1197553602
|
|
|
NM_004100.5(EYA4):c.1738+8A>G
|
|
|
|
NM_004100.5(EYA4):c.1739-20T>G
|
|
|
|
NM_004100.5(EYA4):c.1779C>G (p.Gly593=)
|
|
|
|
NM_004100.5(EYA4):c.1791G>A (p.Val597=)
|
rs1583567927
|
|
|
NM_004100.5(EYA4):c.1794T>C (p.Tyr598=)
|
rs1370711989
|
|
|
NM_004100.5(EYA4):c.1800A>G (p.Val600=)
|
|
|
|
NM_004100.5(EYA4):c.1839+13A>T
|
rs368743262
|
|
|
NM_004100.5(EYA4):c.1840-11T>G
|
|
|
|
NM_004100.5(EYA4):c.1840-13_1840-11del
|
|
|
|
NM_004100.5(EYA4):c.1840-14T>G
|
|
|
|
NM_004100.5(EYA4):c.1896A>G (p.Gln632=)
|
|
|
|
NM_004100.5(EYA4):c.204A>G (p.Thr68=)
|
rs2128623032
|
|
|
NM_004100.5(EYA4):c.208+10C>T
|
|
|
|
NM_004100.5(EYA4):c.208+12A>T
|
|
|
|
NM_004100.5(EYA4):c.208+14C>A
|
|
|
|
NM_004100.5(EYA4):c.208+7G>A
|
rs1792885399
|
|
|
NM_004100.5(EYA4):c.208+7G>T
|
rs1792885399
|
|
|
NM_004100.5(EYA4):c.209-14G>C
|
rs2128625875
|
|
|
NM_004100.5(EYA4):c.237A>G (p.Ala79=)
|
rs727504840
|
|
|
NM_004100.5(EYA4):c.255C>T (p.Cys85=)
|
rs2128626096
|
|
|
NM_004100.5(EYA4):c.261C>T (p.Thr87=)
|
|
|
|
NM_004100.5(EYA4):c.277+10A>G
|
|
|
|
NM_004100.5(EYA4):c.277+11T>A
|
rs1315418407
|
|
|
NM_004100.5(EYA4):c.278-18A>C
|
|
|
|
NM_004100.5(EYA4):c.278-20G>A
|
|
|
|
NM_004100.5(EYA4):c.278-5C>T
|
|
|
|
NM_004100.5(EYA4):c.33+11A>C
|
rs1777030773
|
|
|
NM_004100.5(EYA4):c.33+12T>C
|
rs759940308
|
|
|
NM_004100.5(EYA4):c.333G>A (p.Thr111=)
|
|
|
|
NM_004100.5(EYA4):c.336T>G (p.Thr112=)
|
|
|
|
NM_004100.5(EYA4):c.34-17G>C
|
|
|
|
NM_004100.5(EYA4):c.342T>C (p.Asp114=)
|
|
|
|
NM_004100.5(EYA4):c.348G>C (p.Ala116=)
|
rs373496105
|
|
|
NM_004100.5(EYA4):c.354C>T (p.Asp118=)
|
|
|
|
NM_004100.5(EYA4):c.363T>C (p.Thr121=)
|
|
|
|
NM_004100.5(EYA4):c.36A>G (p.Val12=)
|
rs2128480628
|
|
|
NM_004100.5(EYA4):c.370+17G>A
|
|
|
|
NM_004100.5(EYA4):c.370+17G>C
|
|
|
|
NM_004100.5(EYA4):c.371-11G>A
|
|
|
|
NM_004100.5(EYA4):c.371-17A>G
|
rs749224573
|
|
|
NM_004100.5(EYA4):c.396C>T (p.Pro132=)
|
|
|
|
NM_004100.5(EYA4):c.424C>T (p.Leu142=)
|
|
|
|
NM_004100.5(EYA4):c.438-14T>C
|
|
|
|
NM_004100.5(EYA4):c.438-17A>G
|
|
|
|
NM_004100.5(EYA4):c.489T>C (p.Tyr163=)
|
|
|
|
NM_004100.5(EYA4):c.498G>A (p.Gln166=)
|
|
|
|
NM_004100.5(EYA4):c.510G>T (p.Ser170=)
|
|
|
|
NM_004100.5(EYA4):c.51A>G (p.Thr17=)
|
rs1038991613
|
|
|
NM_004100.5(EYA4):c.531C>G (p.Val177=)
|
|
|
|
NM_004100.5(EYA4):c.546A>T (p.Ser182=)
|
|
|
|
NM_004100.5(EYA4):c.558G>A (p.Gln186=)
|
|
|
|
NM_004100.5(EYA4):c.561C>T (p.Pro187=)
|
|
|
|
NM_004100.5(EYA4):c.580+15_580+16del
|
|
|
|
NM_004100.5(EYA4):c.580+17G>A
|
|
|
|
NM_004100.5(EYA4):c.580+9C>T
|
rs1794485545
|
|
|
NM_004100.5(EYA4):c.581-7T>C
|
|
|
|
NM_004100.5(EYA4):c.583T>C (p.Leu195=)
|
|
|
|
NM_004100.5(EYA4):c.609G>A (p.Lys203=)
|
rs1794500966
|
|
|
NM_004100.5(EYA4):c.615G>A (p.Glu205=)
|
rs2128659307
|
|
|
NM_004100.5(EYA4):c.630A>G (p.Gln210=)
|
|
|
|
NM_004100.5(EYA4):c.633T>G (p.Thr211=)
|
rs1794503381
|
|
|
NM_004100.5(EYA4):c.642A>G (p.Pro214=)
|
|
|
|
NM_004100.5(EYA4):c.666C>T (p.Tyr222=)
|
|
|
|
NM_004100.5(EYA4):c.66A>G (p.Ser22=)
|
rs2128480683
|
|
|
NM_004100.5(EYA4):c.687A>G (p.Pro229=)
|
|
|
|
NM_004100.5(EYA4):c.699G>A (p.Gln233=)
|
|
|
|
NM_004100.5(EYA4):c.711T>C (p.Ser237=)
|
rs1554262053
|
|
|
NM_004100.5(EYA4):c.724+15A>G
|
|
|
|
NM_004100.5(EYA4):c.724+9C>G
|
|
|
|
NM_004100.5(EYA4):c.725-14T>C
|
|
|
|
NM_004100.5(EYA4):c.725-19A>C
|
|
|
|
NM_004100.5(EYA4):c.729T>C (p.Ser243=)
|
rs1794703368
|
|
|
NM_004100.5(EYA4):c.735T>C (p.Phe245=)
|
rs1794703788
|
|
|
NM_004100.5(EYA4):c.744A>G (p.Ser248=)
|
rs397516879
|
|
|
NM_004100.5(EYA4):c.75G>A (p.Gln25=)
|
|
|
|
NM_004100.5(EYA4):c.83+11A>T
|
|
|
|
NM_004100.5(EYA4):c.83+20A>G
|
|
|
|
NM_004100.5(EYA4):c.83+21del
|
|
|
|
NM_004100.5(EYA4):c.84-9C>G
|
|
|
|
NM_004100.5(EYA4):c.843T>C (p.Tyr281=)
|
|
|
|
NM_004100.5(EYA4):c.876G>C (p.Ala292=)
|
rs750099139
|
|
|
NM_004100.5(EYA4):c.899C>A (p.Ala300Asp)
|
rs757252384
|
|
|
NM_004100.5(EYA4):c.921C>G (p.Thr307=)
|
|
|
|
NM_004100.5(EYA4):c.930T>C (p.Tyr310=)
|
|
|
|
NM_004100.5(EYA4):c.951A>C (p.Pro317=)
|
rs1060504783
|
|
|
NM_004100.5(EYA4):c.966A>G (p.Gln322=)
|
rs762696698
|
|
|
NM_004100.5(EYA4):c.970+10T>C
|
|
|
|
NM_004100.5(EYA4):c.970+12C>T
|
|
|
|
NM_004100.5(EYA4):c.970+8T>A
|
rs2128675040
|
|
|
NM_004100.5(EYA4):c.970+9C>G
|
rs756408633
|
|
|
NM_004100.5(EYA4):c.971-6C>T
|
rs369993979
|
|
|
NM_004100.5(EYA4):c.978C>T (p.Phe326=)
|
rs773095472
|
|
|
NM_004100.5(EYA4):c.984C>A (p.Thr328=)
|
|
|
|
NM_004100.5(EYA4):c.984C>T (p.Thr328=)
|
rs1005575118
|
|
|
NM_004281.4(BAG3):c.1011C>A (p.Ile337=)
|
rs1434506876
|
|
|
NM_004281.4(BAG3):c.1017T>A (p.Ile339=)
|
rs2134068761
|
|
|
NM_004281.4(BAG3):c.1029C>T (p.Arg343=)
|
rs117972572
|
|
|
NM_004281.4(BAG3):c.1035G>A (p.Glu345=)
|
rs1057522401
|
|
|
NM_004281.4(BAG3):c.1047A>G (p.Lys349=)
|
rs776281341
|
|
|
NM_004281.4(BAG3):c.1056C>T (p.Ser352=)
|
rs753304366
|
|
|
NM_004281.4(BAG3):c.1068A>G (p.Pro356=)
|
rs2134068836
|
|
|
NM_004281.4(BAG3):c.1074C>G (p.Pro358=)
|
|
|
|
NM_004281.4(BAG3):c.1083G>A (p.Lys361=)
|
rs1060504722
|
|
|
NM_004281.4(BAG3):c.111C>G (p.Pro37=)
|
rs397516880
|
|
|
NM_004281.4(BAG3):c.111C>T (p.Pro37=)
|
rs397516880
|
|
|
NM_004281.4(BAG3):c.1125T>C (p.Pro375=)
|
rs1847240164
|
|
|
NM_004281.4(BAG3):c.1128C>T (p.Pro376=)
|
rs1847240297
|
|
|
NM_004281.4(BAG3):c.1140T>C (p.Pro380=)
|
|
|
|
NM_004281.4(BAG3):c.1140T>G (p.Pro380=)
|
rs201449869
|
|
|
NM_004281.4(BAG3):c.1146T>A (p.Ala382=)
|
|
|
|
NM_004281.4(BAG3):c.1149C>T (p.Val383=)
|
|
|
|
NM_004281.4(BAG3):c.1152C>T (p.Pro384=)
|
rs2134068948
|
|
|
NM_004281.4(BAG3):c.1155T>C (p.Ser385=)
|
rs750681972
|
|
|
NM_004281.4(BAG3):c.1161C>A (p.Pro387=)
|
|
|
|
NM_004281.4(BAG3):c.1161C>T (p.Pro387=)
|
rs919491747
|
|
|
NM_004281.4(BAG3):c.1173T>G (p.Ala391=)
|
|
|
|
NM_004281.4(BAG3):c.117C>T (p.Phe39=)
|
rs2134050608
|
|
|
NM_004281.4(BAG3):c.1188A>G (p.Ala396=)
|
rs1847242410
|
|
|
NM_004281.4(BAG3):c.1191C>T (p.Ala397=)
|
rs2134069011
|
|
|
NM_004281.4(BAG3):c.1211A>G (p.Glu404Gly)
|
|
|
|
NM_004281.4(BAG3):c.1215T>C (p.Ala405=)
|
rs2134069050
|
|
|
NM_004281.4(BAG3):c.1248C>G (p.Pro416=)
|
|
|
|
NM_004281.4(BAG3):c.1251A>G (p.Pro417=)
|
rs1589632714
|
|
|
NM_004281.4(BAG3):c.1260A>C (p.Pro420=)
|
|
|
|
NM_004281.4(BAG3):c.1260A>G (p.Pro420=)
|
rs781193139
|
|
|
NM_004281.4(BAG3):c.1263A>C (p.Gly421=)
|
rs2134069125
|
|
|
NM_004281.4(BAG3):c.1284C>A (p.Ile428=)
|
|
|
|
NM_004281.4(BAG3):c.1302G>A (p.Gly434=)
|
rs1337912162
|
|
|
NM_004281.4(BAG3):c.1302G>T (p.Gly434=)
|
|
|
|
NM_004281.4(BAG3):c.1314T>C (p.Ala438=)
|
|
|
|
NM_004281.4(BAG3):c.132C>T (p.Ser44=)
|
rs2134050640
|
|
|
NM_004281.4(BAG3):c.1344C>T (p.Asp448=)
|
rs727504796
|
|
|
NM_004281.4(BAG3):c.1356G>A (p.Leu452=)
|
rs2134069254
|
|
|
NM_004281.4(BAG3):c.1362C>A (p.Ile454=)
|
|
|
|
NM_004281.4(BAG3):c.1401A>G (p.Ser467=)
|
rs1452240685
|
|
|
NM_004281.4(BAG3):c.1413G>A (p.Glu471=)
|
|
|
|
NM_004281.4(BAG3):c.1428G>A (p.Val476=)
|
rs1589632894
|
|
|
NM_004281.4(BAG3):c.1440G>A (p.Arg480=)
|
rs1199766314
|
|
|
NM_004281.4(BAG3):c.1449T>G (p.Gly483=)
|
rs1589632914
|
|
|
NM_004281.4(BAG3):c.1452C>A (p.Val484=)
|
rs1564776918
|
|
|
NM_004281.4(BAG3):c.1455G>A (p.Arg485=)
|
rs933568303
|
|
|
NM_004281.4(BAG3):c.1470C>T (p.Ile490=)
|
rs941119140
|
|
|
NM_004281.4(BAG3):c.1485A>G (p.Glu495=)
|
rs778242238
|
|
|
NM_004281.4(BAG3):c.1491A>G (p.Lys497=)
|
rs2134069390
|
|
|
NM_004281.4(BAG3):c.1494C>T (p.Ala498=)
|
|
|
|
NM_004281.4(BAG3):c.1503C>T (p.Val501=)
|
rs147277075
|
|
|
NM_004281.4(BAG3):c.1527A>G (p.Glu509=)
|
rs1554877837
|
|
|
NM_004281.4(BAG3):c.1534C>T (p.Pro512Ser)
|
rs770086669
|
|
|
NM_004281.4(BAG3):c.1536C>T (p.Pro512=)
|
|
|
|
NM_004281.4(BAG3):c.1539C>T (p.Ser513=)
|
|
|
|
NM_004281.4(BAG3):c.1542C>T (p.Asn514=)
|
|
|
|
NM_004281.4(BAG3):c.1554T>A (p.Asp518Glu)
|
rs139125612
|
|
|
NM_004281.4(BAG3):c.1554T>C (p.Asp518=)
|
|
|
|
NM_004281.4(BAG3):c.1566G>A (p.Gln522=)
|
|
|
|
NM_004281.4(BAG3):c.156G>A (p.Pro52=)
|
rs1343121998
|
|
|
NM_004281.4(BAG3):c.1578G>A (p.Glu526=)
|
|
|
|
NM_004281.4(BAG3):c.1587C>G (p.Ala529=)
|
rs149358702
|
|
|
NM_004281.4(BAG3):c.15C>G (p.Thr5=)
|
rs1371817400
|
|
|
NM_004281.4(BAG3):c.1626A>G (p.Ala542=)
|
rs1589633066
|
|
|
NM_004281.4(BAG3):c.1635C>T (p.Pro545=)
|
|
|
|
NM_004281.4(BAG3):c.1653G>A (p.Gln551=)
|
|
|
|
NM_004281.4(BAG3):c.1659A>C (p.Glu553Asp)
|
rs763530097
|
|
|
NM_004281.4(BAG3):c.165C>T (p.Pro55=)
|
rs988033291
|
|
|
NM_004281.4(BAG3):c.1683C>T (p.Asn561=)
|
|
|
|
NM_004281.4(BAG3):c.1704C>T (p.Thr568=)
|
|
|
|
NM_004281.4(BAG3):c.1725G>T (p.Pro575=)
|
|
|
|
NM_004281.4(BAG3):c.1728G>A (p.Ter576=)
|
|
|
|
NM_004281.4(BAG3):c.174C>T (p.Gly58=)
|
|
|
|
NM_004281.4(BAG3):c.180+10G>C
|
rs1060504721
|
|
|
NM_004281.4(BAG3):c.180+11C>T
|
|
|
|
NM_004281.4(BAG3):c.180+13C>T
|
rs727504938
|
|
|
NM_004281.4(BAG3):c.180+14G>A
|
|
|
|
NM_004281.4(BAG3):c.180+19_180+20delinsTT
|
rs2134050718
|
|
|
NM_004281.4(BAG3):c.180+20C>T
|
|
|
|
NM_004281.4(BAG3):c.181-18C>A
|
|
|
|
NM_004281.4(BAG3):c.181-20T>C
|
|
|
|
NM_004281.4(BAG3):c.181-6T>C
|
rs2134063120
|
|
|
NM_004281.4(BAG3):c.192C>T (p.Ser64=)
|
rs2134063144
|
|
|
NM_004281.4(BAG3):c.200A>G (p.Asn67Ser)
|
rs572036022
|
|
|
NM_004281.4(BAG3):c.212G>T (p.Arg71Leu)
|
rs35434411
|
|
|
NM_004281.4(BAG3):c.21G>A (p.Ser7=)
|
|
|
|
NM_004281.4(BAG3):c.249C>T (p.His83=)
|
rs151331972
|
|
|
NM_004281.4(BAG3):c.255G>T (p.Val85=)
|
|
|
|
NM_004281.4(BAG3):c.261C>G (p.Pro87=)
|
|
|
|
NM_004281.4(BAG3):c.261C>T (p.Pro87=)
|
rs1390921760
|
|
|
NM_004281.4(BAG3):c.273A>G (p.Pro91=)
|
|
|
|
NM_004281.4(BAG3):c.285C>T (p.Pro95=)
|
rs2134063295
|
|
|
NM_004281.4(BAG3):c.297C>T (p.Leu99=)
|
|
|
|
NM_004281.4(BAG3):c.312G>A (p.Glu104=)
|
|
|
|
NM_004281.4(BAG3):c.321G>C (p.Gln107His)
|
|
|
|
NM_004281.4(BAG3):c.33G>A (p.Gln11=)
|
|
|
|
NM_004281.4(BAG3):c.36G>A (p.Val12=)
|
rs1232169723
|
|
|
NM_004281.4(BAG3):c.378G>C (p.Ala126=)
|
|
|
|
NM_004281.4(BAG3):c.384A>G (p.Ala128=)
|
|
|
|
NM_004281.4(BAG3):c.387G>A (p.Ala129=)
|
rs764875756
|
|
|
NM_004281.4(BAG3):c.399G>A (p.Arg133=)
|
rs2134063469
|
|
|
NM_004281.4(BAG3):c.456A>G (p.Gly152=)
|
|
|
|
NM_004281.4(BAG3):c.460G>A (p.Val154Met)
|
rs376198104
|
|
|
NM_004281.4(BAG3):c.467C>G (p.Ala156Gly)
|
rs572038196
|
|
|
NM_004281.4(BAG3):c.474G>A (p.Ala158=)
|
rs976641994
|
|
|
NM_004281.4(BAG3):c.495C>T (p.Ser165=)
|
rs35261472
|
|
|
NM_004281.4(BAG3):c.501A>G (p.Gly167=)
|
rs1589629040
|
|
|
NM_004281.4(BAG3):c.507+10G>A
|
|
|
|
NM_004281.4(BAG3):c.507+15G>C
|
|
|
|
NM_004281.4(BAG3):c.507+16G>A
|
rs376346659
|
|
|
NM_004281.4(BAG3):c.507+7A>G
|
rs2134063657
|
|
|
NM_004281.4(BAG3):c.508-18A>T
|
rs755529596
|
|
|
NM_004281.4(BAG3):c.508-7_508-6del
|
|
|
|
NM_004281.4(BAG3):c.528C>T (p.Ala176=)
|
rs796123466
|
|
|
NM_004281.4(BAG3):c.540A>C (p.Ser180=)
|
|
|
|
NM_004281.4(BAG3):c.54C>T (p.Asp18=)
|
rs866659159
|
|
|
NM_004281.4(BAG3):c.564G>A (p.Leu188=)
|
|
|
|
NM_004281.4(BAG3):c.606G>A (p.Pro202=)
|
rs74157690
|
|
|
NM_004281.4(BAG3):c.609G>C (p.Arg203=)
|
rs1472491342
|
|
|
NM_004281.4(BAG3):c.627G>C (p.Pro209=)
|
rs188555685
|
|
|
NM_004281.4(BAG3):c.639G>A (p.Glu213=)
|
|
|
|
NM_004281.4(BAG3):c.651C>T (p.Thr217=)
|
|
|
|
NM_004281.4(BAG3):c.663C>T (p.Ala221=)
|
|
|
|
NM_004281.4(BAG3):c.693G>C (p.Thr231=)
|
|
|
|
NM_004281.4(BAG3):c.69C>G (p.Pro23=)
|
|
|
|
NM_004281.4(BAG3):c.702A>G (p.Pro234=)
|
|
|
|
NM_004281.4(BAG3):c.705G>T (p.Ala235=)
|
rs141328836
|
|
|
NM_004281.4(BAG3):c.72C>G (p.Pro24=)
|
|
|
|
NM_004281.4(BAG3):c.741C>T (p.Tyr247=)
|
|
|
|
NM_004281.4(BAG3):c.747G>A (p.Lys249=)
|
|
|
|
NM_004281.4(BAG3):c.756G>A (p.Gly252=)
|
rs1663041167
|
|
|
NM_004281.4(BAG3):c.768G>A (p.Glu256=)
|
rs2134065279
|
|
|
NM_004281.4(BAG3):c.771C>G (p.Pro257=)
|
|
|
|
NM_004281.4(BAG3):c.780G>A (p.Leu260=)
|
|
|
|
NM_004281.4(BAG3):c.789A>T (p.Ala263=)
|
rs2134065332
|
|
|
NM_004281.4(BAG3):c.792C>G (p.Ser264=)
|
|
|
|
NM_004281.4(BAG3):c.792C>T (p.Ser264=)
|
|
|
|
NM_004281.4(BAG3):c.804A>T (p.Ser268=)
|
|
|
|
NM_004281.4(BAG3):c.819A>G (p.Ala273=)
|
rs1554877282
|
|
|
NM_004281.4(BAG3):c.822G>C (p.Ser274=)
|
rs776700820
|
|
|
NM_004281.4(BAG3):c.822G>T (p.Ser274=)
|
rs776700820
|
|
|
NM_004281.4(BAG3):c.834C>G (p.Gly278=)
|
rs2134065380
|
|
|
NM_004281.4(BAG3):c.843C>G (p.Ala281=)
|
|
|
|
NM_004281.4(BAG3):c.843C>T (p.Ala281=)
|
|
|
|
NM_004281.4(BAG3):c.846G>A (p.Arg282=)
|
|
|
|
NM_004281.4(BAG3):c.864C>T (p.His288=)
|
|
|
|
NM_004281.4(BAG3):c.870C>A (p.Pro290=)
|
rs140737221
|
|
|
NM_004281.4(BAG3):c.870C>T (p.Pro290=)
|
|
|
|
NM_004281.4(BAG3):c.885G>A (p.Val295=)
|
|
|
|
NM_004281.4(BAG3):c.891C>G (p.Thr297=)
|
rs372571986
|
|
|
NM_004281.4(BAG3):c.900C>T (p.Asp300=)
|
|
|
|
NM_004281.4(BAG3):c.909+11T>A
|
|
|
|
NM_004281.4(BAG3):c.910-10C>G
|
rs727502899
|
|
|
NM_004281.4(BAG3):c.910-17T>C
|
|
|
|
NM_004281.4(BAG3):c.910-21_910-20delinsCC
|
rs2134068620
|
|
|
NM_004281.4(BAG3):c.910-4T>A
|
rs1847235304
|
|
|
NM_004281.4(BAG3):c.917T>C (p.Met306Thr)
|
rs554147128
|
|
|
NM_004281.4(BAG3):c.921C>G (p.Thr307=)
|
|
|
|
NM_004281.4(BAG3):c.921C>T (p.Thr307=)
|
|
|
|
NM_004281.4(BAG3):c.957C>T (p.Asn319=)
|
|
|
|
NM_004281.4(BAG3):c.96G>A (p.Pro32=)
|
rs372083121
|
|
|
NM_004281.4(BAG3):c.975A>T (p.Pro325=)
|
rs1589632410
|
|
|
NM_004281.4(BAG3):c.981A>G (p.Pro327=)
|
rs1030445553
|
|
|
NM_004281.4(BAG3):c.984T>G (p.Val328=)
|
rs753140913
|
|
|
NM_004281.4(BAG3):c.996C>G (p.Leu332=)
|
rs2134068736
|
|
|
NM_004281.4(BAG3):c.996C>T (p.Leu332=)
|
|
|
|
NM_004281.4(BAG3):c.999T>A (p.Pro333=)
|
rs2134068740
|
|
|
NM_004281.4(BAG3):c.99G>A (p.Gln33=)
|
|
|
|
NM_004415.3(DSP):c.8487_8498del12
|
rs727504704
|
|
|
NM_004415.4(DSP):c.1002C>T (p.Asp334=)
|
|
|
|
NM_004415.4(DSP):c.1008T>G (p.Leu336=)
|
|
|
|
NM_004415.4(DSP):c.1010T>C (p.Val337Ala)
|
|
|
|
NM_004415.4(DSP):c.102C>T (p.Gly34=)
|
rs763785063
|
|
|
NM_004415.4(DSP):c.1047C>T (p.Ala349=)
|
rs1758892420
|
|
|
NM_004415.4(DSP):c.1049A>G (p.Tyr350Cys)
|
rs1187569405
|
|
|
NM_004415.4(DSP):c.1067C>T (p.Thr356Met)
|
rs780626687
|
|
|
NM_004415.4(DSP):c.1089G>C (p.Gln363His)
|
|
|
|
NM_004415.4(DSP):c.1092C>T (p.Ile364=)
|
|
|
|
NM_004415.4(DSP):c.111C>A (p.Thr37=)
|
rs727502995
|
|
|
NM_004415.4(DSP):c.1125T>C (p.Asn375=)
|
|
|
|
NM_004415.4(DSP):c.1140+14G>C
|
|
|
|
NM_004415.4(DSP):c.1140+20A>G
|
rs2113672635
|
|
|
NM_004415.4(DSP):c.1141-12C>T
|
|
|
|
NM_004415.4(DSP):c.1141-15T>C
|
|
|
|
NM_004415.4(DSP):c.1141-8C>A
|
rs1758907949
|
|
|
NM_004415.4(DSP):c.1141-9C>T
|
|
|
|
NM_004415.4(DSP):c.1161T>A (p.Ser387=)
|
rs1758909456
|
|
|
NM_004415.4(DSP):c.117G>A (p.Arg39=)
|
|
|
|
NM_004415.4(DSP):c.1180G>A (p.Gly394Arg)
|
rs769054351
|
|
|
NM_004415.4(DSP):c.1182G>T (p.Gly394=)
|
|
|
|
NM_004415.4(DSP):c.1222A>G (p.Asn408Asp)
|
rs142129767
|
|
|
NM_004415.4(DSP):c.1232T>C (p.Leu411Pro)
|
|
|
|
NM_004415.4(DSP):c.1240C>T (p.Leu414=)
|
|
|
|
NM_004415.4(DSP):c.1248A>G (p.Glu416=)
|
rs1554106751
|
|
|
NM_004415.4(DSP):c.1267-10A>C
|
rs2113674080
|
|
|
NM_004415.4(DSP):c.1267-13T>C
|
|
|
|
NM_004415.4(DSP):c.1267-20G>A
|
|
|
|
NM_004415.4(DSP):c.1288G>A (p.Glu430Lys)
|
|
|
|
NM_004415.4(DSP):c.12C>T (p.Asn4=)
|
rs368802003
|
|
|
NM_004415.4(DSP):c.1303G>A (p.Val435Met)
|
|
|
|
NM_004415.4(DSP):c.1329G>A (p.Lys443=)
|
rs767785995
|
|
|
NM_004415.4(DSP):c.132G>A (p.Arg44=)
|
rs1204569556
|
|
|
NM_004415.4(DSP):c.1356C>T (p.Asn452=)
|
rs1187261274
|
|
|
NM_004415.4(DSP):c.1362C>T (p.Asp454=)
|
rs778044416
|
|
|
NM_004415.4(DSP):c.1378C>T (p.Pro460Ser)
|
|
|
|
NM_004415.4(DSP):c.1380C>T (p.Pro460=)
|
rs1451086273
|
|
|
NM_004415.4(DSP):c.1395T>C (p.Ala465=)
|
rs778926592
|
|
|
NM_004415.4(DSP):c.1395T>G (p.Ala465=)
|
|
|
|
NM_004415.4(DSP):c.1398C>G (p.Leu466=)
|
rs1465847887
|
|
|
NM_004415.4(DSP):c.1419+17A>G
|
|
|
|
NM_004415.4(DSP):c.1420-13G>T
|
|
|
|
NM_004415.4(DSP):c.1420-9G>C
|
rs1758956235
|
|
|
NM_004415.4(DSP):c.1425C>T (p.Ile475=)
|
rs1329910838
|
|
|
NM_004415.4(DSP):c.1426G>A (p.Val476Met)
|
rs367987327
|
|
|
NM_004415.4(DSP):c.1428G>A (p.Val476=)
|
|
|
|
NM_004415.4(DSP):c.1431T>C (p.His477=)
|
rs1554106904
|
|
|
NM_004415.4(DSP):c.1449C>A (p.Ile483=)
|
rs1758959651
|
|
|
NM_004415.4(DSP):c.1464C>T (p.Asn488=)
|
rs768526275
|
|
|
NM_004415.4(DSP):c.146C>T (p.Thr49Ile)
|
rs151153655
|
|
|
NM_004415.4(DSP):c.1475A>G (p.Lys492Arg)
|
|
|
|
NM_004415.4(DSP):c.1476G>A (p.Lys492=)
|
rs2113675467
|
|
|
NM_004415.4(DSP):c.1485G>T (p.Val495=)
|
rs2113675497
|
|
|
NM_004415.4(DSP):c.1497A>G (p.Gly499=)
|
rs1581803484
|
|
|
NM_004415.4(DSP):c.1500C>T (p.Gly500=)
|
rs762086998
|
|
|
NM_004415.4(DSP):c.1506C>T (p.Asp502=)
|
|
|
|
NM_004415.4(DSP):c.1524G>C (p.Val508=)
|
rs2113675631
|
|
|
NM_004415.4(DSP):c.1527G>T (p.Gly509=)
|
rs397516917
|
|
|
NM_004415.4(DSP):c.1542T>A (p.Pro514=)
|
rs1554106920
|
|
|
NM_004415.4(DSP):c.1544C>T (p.Pro515Leu)
|
rs730880079
|
|
|
NM_004415.4(DSP):c.1558G>A (p.Val520Met)
|
|
|
|
NM_004415.4(DSP):c.1563C>A (p.Asp521Glu)
|
rs113378925
|
|
|
NM_004415.4(DSP):c.1574+12A>C
|
rs777035331
|
|
|
NM_004415.4(DSP):c.1574+12A>G
|
|
|
|
NM_004415.4(DSP):c.1574+16T>C
|
|
|
|
NM_004415.4(DSP):c.1574+20A>G
|
rs1190197652
|
|
|
NM_004415.4(DSP):c.1575-17C>T
|
|
|
|
NM_004415.4(DSP):c.1575-9G>T
|
|
|
|
NM_004415.4(DSP):c.157T>C (p.Ser53Pro)
|
rs397516918
|
|
|
NM_004415.4(DSP):c.1587C>T (p.Tyr529=)
|
rs2113677271
|
|
|
NM_004415.4(DSP):c.159G>A (p.Ser53=)
|
|
|
|
NM_004415.4(DSP):c.162C>T (p.Asp54=)
|
rs1057113375
|
|
|
NM_004415.4(DSP):c.1639C>T (p.Leu547=)
|
|
|
|
NM_004415.4(DSP):c.1665T>C (p.Ile555=)
|
|
|
|
NM_004415.4(DSP):c.1680C>T (p.Ile560=)
|
rs397516920
|
|
|
NM_004415.4(DSP):c.170+10T>C
|
|
|
|
NM_004415.4(DSP):c.170+11G>T
|
rs727505007
|
|
|
NM_004415.4(DSP):c.170+12C>A
|
|
|
|
NM_004415.4(DSP):c.170+13C>T
|
|
|
|
NM_004415.4(DSP):c.170+14C>T
|
|
|
|
NM_004415.4(DSP):c.170+18G>A
|
|
|
|
NM_004415.4(DSP):c.170+19A>G
|
|
|
|
NM_004415.4(DSP):c.1701+18C>G
|
rs2113677592
|
|
|
NM_004415.4(DSP):c.1701+7C>A
|
|
|
|
NM_004415.4(DSP):c.1702-12G>A
|
rs1759045119
|
|
|
NM_004415.4(DSP):c.1702-7C>G
|
|
|
|
NM_004415.4(DSP):c.1702-7_1702-3del
|
|
|
|
NM_004415.4(DSP):c.171-5C>G
|
|
|
|
NM_004415.4(DSP):c.171-5C>T
|
|
|
|
NM_004415.4(DSP):c.1710A>C (p.Thr570=)
|
rs1429455523
|
|
|
NM_004415.4(DSP):c.1736C>T (p.Thr579Met)
|
|
|
|
NM_004415.4(DSP):c.1737G>T (p.Thr579=)
|
rs150734502
|
|
|
NM_004415.4(DSP):c.1743C>A (p.Ala581=)
|
rs139095230
|
|
|
NM_004415.4(DSP):c.1749T>G (p.Leu583=)
|
rs1060503981
|
|
|
NM_004415.4(DSP):c.1788C>G (p.Gly596=)
|
rs2113679013
|
|
|
NM_004415.4(DSP):c.178G>A (p.Gly60Ser)
|
rs982933033
|
|
|
NM_004415.4(DSP):c.1794G>A (p.Glu598=)
|
|
|
|
NM_004415.4(DSP):c.1816C>A (p.Arg606=)
|
rs372467697
|
|
|
NM_004415.4(DSP):c.1817G>A (p.Arg606Gln)
|
rs576661499
|
|
|
NM_004415.4(DSP):c.1851G>A (p.Lys617=)
|
rs1759052144
|
|
|
NM_004415.4(DSP):c.1869C>T (p.Val623=)
|
|
|
|
NM_004415.4(DSP):c.1903+15T>C
|
|
|
|
NM_004415.4(DSP):c.1903+17T>C
|
|
|
|
NM_004415.4(DSP):c.1904-20G>T
|
|
|
|
NM_004415.4(DSP):c.1904-4A>G
|
|
|
|
NM_004415.4(DSP):c.1904-9T>C
|
|
|
|
NM_004415.4(DSP):c.1908C>T (p.Thr636=)
|
|
|
|
NM_004415.4(DSP):c.1914T>C (p.Thr638=)
|
|
|
|
NM_004415.4(DSP):c.1919T>C (p.Ile640Thr)
|
rs1407036854
|
|
|
NM_004415.4(DSP):c.1923T>A (p.Thr641=)
|
|
|
|
NM_004415.4(DSP):c.192G>A (p.Arg64=)
|
rs908789038
|
|
|
NM_004415.4(DSP):c.1938C>T (p.Cys646=)
|
rs1759064440
|
|
|
NM_004415.4(DSP):c.1965T>C (p.Ile655=)
|
|
|
|
NM_004415.4(DSP):c.1971C>G (p.Thr657=)
|
rs2113679874
|
|
|
NM_004415.4(DSP):c.2016G>A (p.Leu672=)
|
rs1282905209
|
|
|
NM_004415.4(DSP):c.2033A>G (p.Gln678Arg)
|
|
|
|
NM_004415.4(DSP):c.2049G>A (p.Glu683=)
|
rs2113680102
|
|
|
NM_004415.4(DSP):c.204G>A (p.Gln68=)
|
|
|
|
NM_004415.4(DSP):c.2061T>C (p.Thr687=)
|
|
|
|
NM_004415.4(DSP):c.2074C>G (p.Pro692Ala)
|
|
|
|
NM_004415.4(DSP):c.208A>G (p.Thr70Ala)
|
rs1442496444
|
|
|
NM_004415.4(DSP):c.2091A>T (p.Gly697=)
|
rs2076304
|
|
|
NM_004415.4(DSP):c.2097T>C (p.Ser699=)
|
rs2113680246
|
|
|
NM_004415.4(DSP):c.2103C>T (p.His701=)
|
|
|
|
NM_004415.4(DSP):c.2109A>G (p.Thr703=)
|
rs1351265258
|
|
|
NM_004415.4(DSP):c.2130+11G>A
|
|
|
|
NM_004415.4(DSP):c.2130+12C>T
|
|
|
|
NM_004415.4(DSP):c.2130+14A>G
|
|
|
|
NM_004415.4(DSP):c.2130+7A>G
|
rs1759074833
|
|
|
NM_004415.4(DSP):c.2156T>C (p.Ile719Thr)
|
|
|
|
NM_004415.4(DSP):c.2159C>G (p.Ala720Gly)
|
rs1261146655
|
|
|
NM_004415.4(DSP):c.2178T>C (p.Leu726=)
|
rs2113683095
|
|
|
NM_004415.4(DSP):c.2184T>C (p.Asp728=)
|
rs750383681
|
|
|
NM_004415.4(DSP):c.2208T>C (p.Ser736=)
|
rs2113683195
|
|
|
NM_004415.4(DSP):c.2220C>T (p.Cys740=)
|
|
|
|
NM_004415.4(DSP):c.2247A>C (p.Leu749=)
|
rs28763963
|
|
|
NM_004415.4(DSP):c.2250T>G (p.Phe750Leu)
|
|
|
|
NM_004415.4(DSP):c.225G>A (p.Leu75=)
|
rs2113653867
|
|
|
NM_004415.4(DSP):c.2268C>T (p.Ile756=)
|
|
|
|
NM_004415.4(DSP):c.2278A>T (p.Thr760Ser)
|
|
|
|
NM_004415.4(DSP):c.2280A>G (p.Thr760=)
|
rs1375561193
|
|
|
NM_004415.4(DSP):c.2297+11C>T
|
|
|
|
NM_004415.4(DSP):c.2297+14A>C
|
rs1057520278
|
|
|
NM_004415.4(DSP):c.2297+15C>T
|
|
|
|
NM_004415.4(DSP):c.2298-10C>T
|
rs1057522919
|
|
|
NM_004415.4(DSP):c.2298-15T>C
|
rs2113683947
|
|
|
NM_004415.4(DSP):c.2298-5T>C
|
rs969832224
|
|
|
NM_004415.4(DSP):c.2298-8C>T
|
rs2113683961
|
|
|
NM_004415.4(DSP):c.2304C>T (p.Cys768=)
|
rs1441887959
|
|
|
NM_004415.4(DSP):c.2313G>A (p.Arg771=)
|
|
|
|
NM_004415.4(DSP):c.231C>T (p.Asn77=)
|
|
|
|
NM_004415.4(DSP):c.2327C>G (p.Ala776Gly)
|
rs201700546
|
|
|
NM_004415.4(DSP):c.2328T>G (p.Ala776=)
|
rs2113684036
|
|
|
NM_004415.4(DSP):c.2369G>A (p.Arg790Lys)
|
|
|
|
NM_004415.4(DSP):c.2379G>A (p.Glu793=)
|
|
|
|
NM_004415.4(DSP):c.2386A>G (p.Thr796Ala)
|
rs1554107526
|
|
|
NM_004415.4(DSP):c.2388T>A (p.Thr796=)
|
|
|
|
NM_004415.4(DSP):c.2388T>C (p.Thr796=)
|
rs2113684215
|
|
|
NM_004415.4(DSP):c.2403G>A (p.Leu801=)
|
rs1759182985
|
|
|
NM_004415.4(DSP):c.2412G>A (p.Val804=)
|
rs773330932
|
|
|
NM_004415.4(DSP):c.2421C>T (p.Tyr807=)
|
rs2113684259
|
|
|
NM_004415.4(DSP):c.2436+10A>G
|
rs1759184963
|
|
|
NM_004415.4(DSP):c.2436+11A>C
|
rs1759185037
|
|
|
NM_004415.4(DSP):c.2436+13C>T
|
|
|
|
NM_004415.4(DSP):c.2436+16A>C
|
|
|
|
NM_004415.4(DSP):c.2436+16A>T
|
rs199555263
|
|
|
NM_004415.4(DSP):c.2437-10C>T
|
rs749486113
|
|
|
NM_004415.4(DSP):c.2437-10del
|
rs746870396
|
|
|
NM_004415.4(DSP):c.2437-12_2437-11del
|
rs727502998
|
|
|
NM_004415.4(DSP):c.2437-6T>C
|
rs2113684940
|
|
|
NM_004415.4(DSP):c.2437-7C>T
|
rs1424310426
|
|
|
NM_004415.4(DSP):c.2437-9A>G
|
|
|
|
NM_004415.4(DSP):c.243C>T (p.Cys81=)
|
rs947998304
|
|
|
NM_004415.4(DSP):c.2441T>C (p.Ile814Thr)
|
rs1393048121
|
|
|
NM_004415.4(DSP):c.2442A>C (p.Ile814=)
|
|
|
|
NM_004415.4(DSP):c.2466G>A (p.Lys822=)
|
rs1379441574
|
|
|
NM_004415.4(DSP):c.2487G>A (p.Lys829=)
|
|
|
|
NM_004415.4(DSP):c.2489C>T (p.Thr830Ile)
|
|
|
|
NM_004415.4(DSP):c.2490A>C (p.Thr830=)
|
rs2113685097
|
|
|
NM_004415.4(DSP):c.250C>A (p.Arg84=)
|
|
|
|
NM_004415.4(DSP):c.2525C>G (p.Thr842Ser)
|
|
|
|
NM_004415.4(DSP):c.2538T>C (p.Tyr846=)
|
rs765837163
|
|
|
NM_004415.4(DSP):c.2543T>C (p.Leu848Pro)
|
|
|
|
NM_004415.4(DSP):c.2553G>A (p.Leu851=)
|
|
|
|
NM_004415.4(DSP):c.2553G>T (p.Leu851=)
|
rs2113685231
|
|
|
NM_004415.4(DSP):c.2571T>A (p.Gly857=)
|
rs1216646957
|
|
|
NM_004415.4(DSP):c.2589G>A (p.Leu863=)
|
|
|
|
NM_004415.4(DSP):c.2597G>T (p.Arg866Leu)
|
|
|
|
NM_004415.4(DSP):c.2622C>A (p.Ile874=)
|
rs751067479
|
|
|
NM_004415.4(DSP):c.2630+10C>T
|
rs757717367
|
|
|
NM_004415.4(DSP):c.2630+15_2630+17del
|
|
|
|
NM_004415.4(DSP):c.2630+18C>A
|
|
|
|
NM_004415.4(DSP):c.2630+7C>T
|
|
|
|
NM_004415.4(DSP):c.2631-10T>A
|
rs369840498
|
|
|
NM_004415.4(DSP):c.2631-10T>C
|
|
|
|
NM_004415.4(DSP):c.2631-12A>G
|
|
|
|
NM_004415.4(DSP):c.2631-14C>G
|
|
|
|
NM_004415.4(DSP):c.2631-14C>T
|
rs1050258732
|
|
|
NM_004415.4(DSP):c.2631-15T>C
|
|
|
|
NM_004415.4(DSP):c.2631-16A>G
|
rs1362454930
|
|
|
NM_004415.4(DSP):c.2631-19T>G
|
|
|
|
NM_004415.4(DSP):c.2631-4C>G
|
rs1581811524
|
|
|
NM_004415.4(DSP):c.2631-8C>A
|
|
|
|
NM_004415.4(DSP):c.2631-8C>T
|
|
|
|
NM_004415.4(DSP):c.2631-9T>C
|
|
|
|
NM_004415.4(DSP):c.2643G>A (p.Leu881=)
|
rs1057520546
|
|
|
NM_004415.4(DSP):c.2655C>A (p.Ile885=)
|
|
|
|
NM_004415.4(DSP):c.2662T>C (p.Leu888=)
|
rs994415126
|
|
|
NM_004415.4(DSP):c.2685T>C (p.Tyr895=)
|
rs2113686561
|
|
|
NM_004415.4(DSP):c.2700G>A (p.Lys900=)
|
rs2113686599
|
|
|
NM_004415.4(DSP):c.2712T>C (p.Asp904=)
|
|
|
|
NM_004415.4(DSP):c.2723G>T (p.Arg908Leu)
|
rs142494121
|
|
|
NM_004415.4(DSP):c.273+13T>C
|
|
|
|
NM_004415.4(DSP):c.273+14G>A
|
rs1460404348
|
|
|
NM_004415.4(DSP):c.273+7_273+8insC
|
|
|
|
NM_004415.4(DSP):c.273+8T>A
|
|
|
|
NM_004415.4(DSP):c.274-13T>C
|
|
|
|
NM_004415.4(DSP):c.274-18G>C
|
|
|
|
NM_004415.4(DSP):c.274-20A>C
|
|
|
|
NM_004415.4(DSP):c.274-7C>G
|
|
|
|
NM_004415.4(DSP):c.274-9T>A
|
rs986399667
|
|
|
NM_004415.4(DSP):c.2769C>T (p.Val923=)
|
rs767744438
|
|
|
NM_004415.4(DSP):c.276A>G (p.Glu92=)
|
|
|
|
NM_004415.4(DSP):c.2775G>T (p.Arg925=)
|
rs2113686798
|
|
|
NM_004415.4(DSP):c.277T>C (p.Leu93=)
|
rs1561680562
|
|
|
NM_004415.4(DSP):c.2793+8C>T
|
|
|
|
NM_004415.4(DSP):c.2794-12C>T
|
rs1759258114
|
|
|
NM_004415.4(DSP):c.2794-13A>T
|
|
|
|
NM_004415.4(DSP):c.2794-17T>C
|
|
|
|
NM_004415.4(DSP):c.2794-20A>G
|
|
|
|
NM_004415.4(DSP):c.2794-7T>C
|
rs397516926
|
|
|
NM_004415.4(DSP):c.2794-7T>G
|
rs397516926
|
|
|
NM_004415.4(DSP):c.2799G>A (p.Leu933=)
|
|
|
|
NM_004415.4(DSP):c.2809A>G (p.Ile937Val)
|
rs1287292518
|
|
|
NM_004415.4(DSP):c.2848A>G (p.Ile950Val)
|
|
|
|
NM_004415.4(DSP):c.2863G>A (p.Ala955Thr)
|
rs190421916
|
|
|
NM_004415.4(DSP):c.2865C>A (p.Ala955=)
|
rs2113687754
|
|
|
NM_004415.4(DSP):c.2877+20A>C
|
|
|
|
NM_004415.4(DSP):c.2878-12A>G
|
rs765050348
|
|
|
NM_004415.4(DSP):c.2878-14T>G
|
|
|
|
NM_004415.4(DSP):c.2878-17dup
|
rs1440609253
|
|
|
NM_004415.4(DSP):c.2878-19A>T
|
|
|
|
NM_004415.4(DSP):c.2878-9A>G
|
rs2113688819
|
|
|
NM_004415.4(DSP):c.2891A>T (p.Gln964Leu)
|
|
|
|
NM_004415.4(DSP):c.2892G>A (p.Gln964=)
|
rs746675465
|
|
|
NM_004415.4(DSP):c.2898C>T (p.Ala966=)
|
rs754665672
|
|
|
NM_004415.4(DSP):c.2904C>T (p.Tyr968=)
|
rs1241595798
|
|
|
NM_004415.4(DSP):c.2932A>G (p.Ile978Val)
|
rs780823789
|
|
|
NM_004415.4(DSP):c.2951T>C (p.Met984Thr)
|
|
|
|
NM_004415.4(DSP):c.2985+7A>G
|
|
|
|
NM_004415.4(DSP):c.2985+8T>C
|
rs776809248
|
|
|
NM_004415.4(DSP):c.2985+9G>A
|
rs1759293135
|
|
|
NM_004415.4(DSP):c.2986-13_2986-10del
|
|
|
|
NM_004415.4(DSP):c.2986-15T>C
|
|
|
|
NM_004415.4(DSP):c.2986-18T>C
|
|
|
|
NM_004415.4(DSP):c.3000T>C (p.His1000=)
|
|
|
|
NM_004415.4(DSP):c.3005G>C (p.Arg1002Pro)
|
rs371234425
|
|
|
NM_004415.4(DSP):c.3006G>A (p.Arg1002=)
|
rs1759317112
|
|
|
NM_004415.4(DSP):c.3018A>G (p.Leu1006=)
|
rs375412541
|
|
|
NM_004415.4(DSP):c.3038A>G (p.Tyr1013Cys)
|
|
|
|
NM_004415.4(DSP):c.3045G>A (p.Arg1015=)
|
|
|
|
NM_004415.4(DSP):c.3048C>T (p.Phe1016=)
|
rs1299556752
|
|
|
NM_004415.4(DSP):c.307C>T (p.Arg103Trp)
|
rs375028675
|
|
|
NM_004415.4(DSP):c.3084+10A>G
|
rs1581814315
|
|
|
NM_004415.4(DSP):c.3084+12T>G
|
|
|
|
NM_004415.4(DSP):c.3084+20C>T
|
|
|
|
NM_004415.4(DSP):c.3085-10C>G
|
|
|
|
NM_004415.4(DSP):c.3085-13T>C
|
rs2113690976
|
|
|
NM_004415.4(DSP):c.3085-20T>A
|
|
|
|
NM_004415.4(DSP):c.3085-20T>G
|
|
|
|
NM_004415.4(DSP):c.3085-4A>G
|
|
|
|
NM_004415.4(DSP):c.30G>T (p.Arg10=)
|
rs1581777241
|
|
|
NM_004415.4(DSP):c.3127C>T (p.Leu1043=)
|
rs1581814977
|
|
|
NM_004415.4(DSP):c.3131C>T (p.Ala1044Val)
|
|
|
|
NM_004415.4(DSP):c.3137A>T (p.Asp1046Val)
|
rs752077454
|
|
|
NM_004415.4(DSP):c.3138T>C (p.Asp1046=)
|
rs879254347
|
|
|
NM_004415.4(DSP):c.3167A>G (p.Lys1056Arg)
|
|
|
|
NM_004415.4(DSP):c.3186G>T (p.Leu1062=)
|
|
|
|
NM_004415.4(DSP):c.3231G>C (p.Ala1077=)
|
|
|
|
NM_004415.4(DSP):c.3244C>T (p.Leu1082=)
|
|
|
|
NM_004415.4(DSP):c.3261G>A (p.Glu1087=)
|
rs1045685133
|
|
|
NM_004415.4(DSP):c.3262C>T (p.Leu1088=)
|
|
|
|
NM_004415.4(DSP):c.3264G>T (p.Leu1088=)
|
|
|
|
NM_004415.4(DSP):c.3276G>A (p.Ser1092=)
|
rs202057409
|
|
|
NM_004415.4(DSP):c.3282G>C (p.Lys1094Asn)
|
rs2491080
|
|
|
NM_004415.4(DSP):c.3306C>T (p.Gly1102=)
|
|
|
|
NM_004415.4(DSP):c.3315A>G (p.Lys1105=)
|
rs1581815327
|
|
|
NM_004415.4(DSP):c.3318A>G (p.Glu1106=)
|
rs2113691480
|
|
|
NM_004415.4(DSP):c.3321C>G (p.Leu1107=)
|
|
|
|
NM_004415.4(DSP):c.3321C>T (p.Leu1107=)
|
|
|
|
NM_004415.4(DSP):c.3325G>A (p.Glu1109Lys)
|
rs367763339
|
|
|
NM_004415.4(DSP):c.3339A>C (p.Arg1113=)
|
|
|
|
NM_004415.4(DSP):c.3351G>A (p.Glu1117=)
|
rs1759350245
|
|
|
NM_004415.4(DSP):c.3366G>A (p.Lys1122=)
|
rs1561697279
|
|
|
NM_004415.4(DSP):c.3393A>G (p.Arg1131=)
|
|
|
|
NM_004415.4(DSP):c.3402A>G (p.Gln1134=)
|
|
|
|
NM_004415.4(DSP):c.3424C>T (p.Leu1142=)
|
rs779251147
|
|
|
NM_004415.4(DSP):c.3456C>A (p.Asn1152Lys)
|
|
|
|
NM_004415.4(DSP):c.3462T>A (p.Gly1154=)
|
rs1554108086
|
|
|
NM_004415.4(DSP):c.3468G>A (p.Gln1156=)
|
rs947354271
|
|
|
NM_004415.4(DSP):c.3480T>C (p.Ser1160=)
|
|
|
|
NM_004415.4(DSP):c.348C>T (p.Asp116=)
|
|
|
|
NM_004415.4(DSP):c.3501G>A (p.Lys1167=)
|
|
|
|
NM_004415.4(DSP):c.3504G>A (p.Glu1168=)
|
|
|
|
NM_004415.4(DSP):c.3512T>C (p.Ile1171Thr)
|
rs762449180
|
|
|
NM_004415.4(DSP):c.3522G>A (p.Leu1174=)
|
|
|
|
NM_004415.4(DSP):c.3546C>A (p.Gly1182=)
|
rs1355395147
|
|
|
NM_004415.4(DSP):c.3564T>C (p.Tyr1188=)
|
rs2113692122
|
|
|
NM_004415.4(DSP):c.3573G>C (p.Glu1191Asp)
|
|
|
|
NM_004415.4(DSP):c.3582G>A (p.Lys1194=)
|
|
|
|
NM_004415.4(DSP):c.3591C>T (p.Asn1197=)
|
|
|
|
NM_004415.4(DSP):c.3606G>A (p.Glu1202=)
|
|
|
|
NM_004415.4(DSP):c.3625A>C (p.Lys1209Gln)
|
rs1283110287
|
|
|
NM_004415.4(DSP):c.3640A>G (p.Ile1214Val)
|
|
|
|
NM_004415.4(DSP):c.3654G>C (p.Lys1218Asn)
|
|
|
|
NM_004415.4(DSP):c.3663C>T (p.Ile1221=)
|
rs2113692351
|
|
|
NM_004415.4(DSP):c.3676A>G (p.Met1226Val)
|
|
|
|
NM_004415.4(DSP):c.3696C>G (p.Ser1232=)
|
rs141120358
|
|
|
NM_004415.4(DSP):c.3696C>T (p.Ser1232=)
|
|
|
|
NM_004415.4(DSP):c.370T>C (p.Leu124=)
|
rs2113657689
|
|
|
NM_004415.4(DSP):c.3714G>A (p.Gln1238=)
|
rs2113692461
|
|
|
NM_004415.4(DSP):c.3718G>C (p.Asp1240His)
|
rs1216670261
|
|
|
NM_004415.4(DSP):c.372G>A (p.Leu124=)
|
rs2113657693
|
|
|
NM_004415.4(DSP):c.3743A>C (p.Asp1248Ala)
|
rs1276847644
|
|
|
NM_004415.4(DSP):c.3750G>A (p.Lys1250=)
|
rs2113692538
|
|
|
NM_004415.4(DSP):c.3762C>G (p.Val1254=)
|
rs2113692582
|
|
|
NM_004415.4(DSP):c.3764G>C (p.Arg1255Thr)
|
|
|
|
NM_004415.4(DSP):c.3780C>T (p.Ile1260=)
|
rs2113692617
|
|
|
NM_004415.4(DSP):c.378A>G (p.Arg126=)
|
rs1758561693
|
|
|
NM_004415.4(DSP):c.3792T>C (p.Thr1264=)
|
rs766726853
|
|
|
NM_004415.4(DSP):c.3805C>A (p.Arg1269=)
|
rs767643821
|
|
|
NM_004415.4(DSP):c.3806G>A (p.Arg1269Gln)
|
rs876657795
|
|
|
NM_004415.4(DSP):c.3828G>A (p.Gln1276=)
|
|
|
|
NM_004415.4(DSP):c.3846T>C (p.Ser1282=)
|
rs2113692799
|
|
|
NM_004415.4(DSP):c.3849G>A (p.Glu1283=)
|
rs2113692806
|
|
|
NM_004415.4(DSP):c.3894C>A (p.Val1298=)
|
rs1581816575
|
|
|
NM_004415.4(DSP):c.3899A>G (p.Gln1300Arg)
|
rs1060500619
|
|
|
NM_004415.4(DSP):c.3905G>T (p.Arg1302Leu)
|
|
|
|
NM_004415.4(DSP):c.3918T>C (p.Asn1306=)
|
rs761749643
|
|
|
NM_004415.4(DSP):c.3956C>G (p.Thr1319Ser)
|
rs138599871
|
|
|
NM_004415.4(DSP):c.3956C>T (p.Thr1319Ile)
|
rs138599871
|
|
|
NM_004415.4(DSP):c.3957C>T (p.Thr1319=)
|
rs2113693020
|
|
|
NM_004415.4(DSP):c.3981C>A (p.Ile1327=)
|
rs397516934
|
|
|
NM_004415.4(DSP):c.3982G>A (p.Glu1328Lys)
|
rs746208168
|
|
|
NM_004415.4(DSP):c.3990C>G (p.Leu1330=)
|
|
|
|
NM_004415.4(DSP):c.3996T>A (p.Ala1332=)
|
|
|
|
NM_004415.4(DSP):c.4014C>T (p.Ala1338=)
|
|
|
|
NM_004415.4(DSP):c.4018C>G (p.Arg1340Gly)
|
rs768628788
|
|
|
NM_004415.4(DSP):c.4018C>T (p.Arg1340Cys)
|
rs768628788
|
|
|
NM_004415.4(DSP):c.402C>T (p.Pro134=)
|
rs373685989
|
|
|
NM_004415.4(DSP):c.4084T>C (p.Leu1362=)
|
rs2113693339
|
|
|
NM_004415.4(DSP):c.4098T>G (p.Phe1366Leu)
|
|
|
|
NM_004415.4(DSP):c.4104C>T (p.Thr1368=)
|
rs1464715776
|
|
|
NM_004415.4(DSP):c.411T>G (p.Ala137=)
|
rs745536008
|
|
|
NM_004415.4(DSP):c.4134C>T (p.His1378=)
|
|
|
|
NM_004415.4(DSP):c.4140C>T (p.Leu1380=)
|
rs1759385261
|
|
|
NM_004415.4(DSP):c.4145T>G (p.Met1382Arg)
|
|
|
|
NM_004415.4(DSP):c.4188C>T (p.Asp1396=)
|
|
|
|
NM_004415.4(DSP):c.4197C>T (p.Thr1399=)
|
rs1581817166
|
|
|
NM_004415.4(DSP):c.4209G>A (p.Arg1403=)
|
rs1561698567
|
|
|
NM_004415.4(DSP):c.420A>G (p.Lys140=)
|
|
|
|
NM_004415.4(DSP):c.4213T>C (p.Leu1405=)
|
rs1451895767
|
|
|
NM_004415.4(DSP):c.422+17A>G
|
|
|
|
NM_004415.4(DSP):c.422+7T>C
|
|
|
|
NM_004415.4(DSP):c.423-10T>G
|
|
|
|
NM_004415.4(DSP):c.423-11T>A
|
rs1758598034
|
|
|
NM_004415.4(DSP):c.423-16G>A
|
rs1561681390
|
|
|
NM_004415.4(DSP):c.4239G>A (p.Lys1413=)
|
rs1581817246
|
|
|
NM_004415.4(DSP):c.4245T>A (p.Thr1415=)
|
rs397516936
|
|
|
NM_004415.4(DSP):c.4245T>G (p.Thr1415=)
|
rs397516936
|
|
|
NM_004415.4(DSP):c.4270A>C (p.Arg1424=)
|
rs1581817293
|
|
|
NM_004415.4(DSP):c.4311C>T (p.Gly1437=)
|
rs781353867
|
|
|
NM_004415.4(DSP):c.4317G>A (p.Glu1439=)
|
|
|
|
NM_004415.4(DSP):c.4350G>A (p.Glu1450=)
|
rs1561698730
|
|
|
NM_004415.4(DSP):c.4365T>G (p.Thr1455=)
|
|
|
|
NM_004415.4(DSP):c.4372C>A (p.Arg1458=)
|
rs28763965
|
|
|
NM_004415.4(DSP):c.4373G>T (p.Arg1458Leu)
|
rs370063434
|
|
|
NM_004415.4(DSP):c.438A>G (p.Gln146=)
|
rs2113659595
|
|
|
NM_004415.4(DSP):c.4392A>G (p.Arg1464=)
|
|
|
|
NM_004415.4(DSP):c.4421A>G (p.Lys1474Arg)
|
rs756456881
|
|
|
NM_004415.4(DSP):c.4428C>T (p.Ile1476=)
|
rs754071010
|
|
|
NM_004415.4(DSP):c.4497C>T (p.Cys1499=)
|
rs892155521
|
|
|
NM_004415.4(DSP):c.4498C>T (p.Leu1500=)
|
rs2113694241
|
|
|
NM_004415.4(DSP):c.4500G>A (p.Leu1500=)
|
|
|
|
NM_004415.4(DSP):c.4509A>G (p.Glu1503=)
|
rs1350066172
|
|
|
NM_004415.4(DSP):c.4512C>T (p.Asn1504=)
|
rs140993677
|
|
|
NM_004415.4(DSP):c.4515G>A (p.Ala1505=)
|
rs193197554
|
|
|
NM_004415.4(DSP):c.4517G>A (p.Arg1506Lys)
|
|
|
|
NM_004415.4(DSP):c.4554C>T (p.Asn1518=)
|
rs1359876288
|
|
|
NM_004415.4(DSP):c.4558A>G (p.Ser1520Gly)
|
rs780953141
|
|
|
NM_004415.4(DSP):c.4558A>T (p.Ser1520Cys)
|
rs780953141
|
|
|
NM_004415.4(DSP):c.4562C>T (p.Ala1521Val)
|
|
|
|
NM_004415.4(DSP):c.4563G>C (p.Ala1521=)
|
|
|
|
NM_004415.4(DSP):c.4569G>A (p.Glu1523=)
|
rs772831377
|
|
|
NM_004415.4(DSP):c.4582C>T (p.Leu1528=)
|
|
|
|
NM_004415.4(DSP):c.4623C>T (p.Asp1541=)
|
rs1554108349
|
|
|
NM_004415.4(DSP):c.4632G>T (p.Arg1544Ser)
|
|
|
|
NM_004415.4(DSP):c.4635T>C (p.Val1545=)
|
|
|
|
NM_004415.4(DSP):c.4644G>A (p.Glu1548=)
|
rs1275385323
|
|
|
NM_004415.4(DSP):c.4648A>T (p.Thr1550Ser)
|
|
|
|
NM_004415.4(DSP):c.4673G>A (p.Arg1558Gln)
|
|
|
|
NM_004415.4(DSP):c.4674G>T (p.Arg1558=)
|
|
|
|
NM_004415.4(DSP):c.4686T>A (p.Ser1562=)
|
rs898212782
|
|
|
NM_004415.4(DSP):c.4686T>C (p.Ser1562=)
|
|
|
|
NM_004415.4(DSP):c.4689G>C (p.Leu1563=)
|
rs763150071
|
|
|
NM_004415.4(DSP):c.4696C>A (p.Leu1566Met)
|
|
|
|
NM_004415.4(DSP):c.46C>A (p.Arg16Ser)
|
rs754773488
|
|
|
NM_004415.4(DSP):c.46C>T (p.Arg16Cys)
|
|
|
|
NM_004415.4(DSP):c.4713G>C (p.Gln1571His)
|
rs375381133
|
|
|
NM_004415.4(DSP):c.4717G>A (p.Val1573Met)
|
rs370171270
|
|
|
NM_004415.4(DSP):c.471T>C (p.Ser157=)
|
|
|
|
NM_004415.4(DSP):c.4731G>A (p.Leu1577=)
|
rs2113694756
|
|
|
NM_004415.4(DSP):c.4731G>C (p.Leu1577=)
|
rs2113694756
|
|
|
NM_004415.4(DSP):c.4737G>A (p.Arg1579=)
|
|
|
|
NM_004415.4(DSP):c.4740G>A (p.Leu1580=)
|
rs2113694768
|
|
|
NM_004415.4(DSP):c.4749C>A (p.Thr1583=)
|
|
|
|
NM_004415.4(DSP):c.474C>T (p.Val158=)
|
|
|
|
NM_004415.4(DSP):c.478C>G (p.Arg160Gly)
|
|
|
|
NM_004415.4(DSP):c.4790A>C (p.Glu1597Ala)
|
|
|
|
NM_004415.4(DSP):c.4791G>A (p.Glu1597=)
|
|
|
|
NM_004415.4(DSP):c.47G>A (p.Arg16His)
|
rs752387234
|
|
|
NM_004415.4(DSP):c.47G>C (p.Arg16Pro)
|
rs752387234
|
|
|
NM_004415.4(DSP):c.4813C>T (p.Leu1605=)
|
|
|
|
NM_004415.4(DSP):c.4815G>A (p.Leu1605=)
|
rs2113694971
|
|
|
NM_004415.4(DSP):c.4821G>A (p.Glu1607=)
|
rs1030367156
|
|
|
NM_004415.4(DSP):c.4826C>T (p.Ala1609Val)
|
|
|
|
NM_004415.4(DSP):c.484C>G (p.Arg162Gly)
|
rs760711308
|
|
|
NM_004415.4(DSP):c.485G>A (p.Arg162His)
|
rs397516944
|
|
|
NM_004415.4(DSP):c.4866A>C (p.Ala1622=)
|
|
|
|
NM_004415.4(DSP):c.4881G>A (p.Lys1627=)
|
|
|
|
NM_004415.4(DSP):c.4881G>T (p.Lys1627Asn)
|
|
|
|
NM_004415.4(DSP):c.4899C>T (p.Leu1633=)
|
rs876657459
|
|
|
NM_004415.4(DSP):c.48C>A (p.Arg16=)
|
rs755777329
|
|
|
NM_004415.4(DSP):c.4922A>G (p.Asp1641Gly)
|
rs765847051
|
|
|
NM_004415.4(DSP):c.492C>G (p.Ala164=)
|
rs2113659755
|
|
|
NM_004415.4(DSP):c.4935G>A (p.Arg1645=)
|
rs751059120
|
|
|
NM_004415.4(DSP):c.4953G>A (p.Gln1651=)
|
rs2113695297
|
|
|
NM_004415.4(DSP):c.4971C>G (p.Leu1657=)
|
|
|
|
NM_004415.4(DSP):c.4994G>C (p.Arg1665Thr)
|
rs1290867734
|
|
|
NM_004415.4(DSP):c.5016G>A (p.Gln1672=)
|
rs1759428613
|
|
|
NM_004415.4(DSP):c.502G>A (p.Gly168Ser)
|
rs1308747530
|
|
|
NM_004415.4(DSP):c.5042G>A (p.Arg1681Lys)
|
rs1274117174
|
|
|
NM_004415.4(DSP):c.5061G>C (p.Lys1687Asn)
|
rs754404501
|
|
|
NM_004415.4(DSP):c.5064G>A (p.Ala1688=)
|
rs886061747
|
|
|
NM_004415.4(DSP):c.5064G>T (p.Ala1688=)
|
rs886061747
|
|
|
NM_004415.4(DSP):c.5071G>A (p.Asp1691Asn)
|
|
|
|
NM_004415.4(DSP):c.5115G>C (p.Arg1705Ser)
|
|
|
|
NM_004415.4(DSP):c.5116C>T (p.Leu1706=)
|
rs1759432452
|
|
|
NM_004415.4(DSP):c.5139G>A (p.Leu1713=)
|
rs1759433301
|
|
|
NM_004415.4(DSP):c.5142C>G (p.Thr1714=)
|
rs1275224079
|
|
|
NM_004415.4(DSP):c.5169A>G (p.Glu1723=)
|
rs1368627358
|
|
|
NM_004415.4(DSP):c.5172G>C (p.Leu1724=)
|
rs2113695733
|
|
|
NM_004415.4(DSP):c.5178C>T (p.Asn1726=)
|
|
|
|
NM_004415.4(DSP):c.5181G>A (p.Leu1727=)
|
rs1172441662
|
|
|
NM_004415.4(DSP):c.5188G>C (p.Glu1730Gln)
|
|
|
|
NM_004415.4(DSP):c.5196T>C (p.Asp1732=)
|
|
|
|
NM_004415.4(DSP):c.5205G>A (p.Arg1735=)
|
rs1561700008
|
|
|
NM_004415.4(DSP):c.5211A>G (p.Gly1737=)
|
rs1581819049
|
|
|
NM_004415.4(DSP):c.5223G>C (p.Ala1741=)
|
rs201984474
|
|
|
NM_004415.4(DSP):c.5225A>G (p.Asp1742Gly)
|
|
|
|
NM_004415.4(DSP):c.5250G>A (p.Leu1750=)
|
|
|
|
NM_004415.4(DSP):c.5259G>A (p.Arg1753=)
|
rs2113695961
|
|
|
NM_004415.4(DSP):c.5268G>A (p.Leu1756=)
|
|
|
|
NM_004415.4(DSP):c.5291T>A (p.Leu1764Gln)
|
rs767885673
|
|
|
NM_004415.4(DSP):c.5304G>A (p.Gly1768=)
|
|
|
|
NM_004415.4(DSP):c.5353G>A (p.Glu1785Lys)
|
rs528041468
|
|
|
NM_004415.4(DSP):c.5355G>A (p.Glu1785=)
|
rs546610553
|
|
|
NM_004415.4(DSP):c.5364A>G (p.Gln1788=)
|
|
|
|
NM_004415.4(DSP):c.5379+8C>G
|
rs771984464
|
|
|
NM_004415.4(DSP):c.537C>T (p.Gly179=)
|
|
|
|
NM_004415.4(DSP):c.5380-16_5380-13del
|
|
|
|
NM_004415.4(DSP):c.5380-20_5380-13del
|
|
|
|
NM_004415.4(DSP):c.5380-6T>C
|
|
|
|
NM_004415.4(DSP):c.5380-8A>C
|
|
|
|
NM_004415.4(DSP):c.5391G>A (p.Arg1797=)
|
rs778745098
|
|
|
NM_004415.4(DSP):c.5442C>T (p.Ser1814=)
|
|
|
|
NM_004415.4(DSP):c.5448G>C (p.Leu1816=)
|
rs1270969886
|
|
|
NM_004415.4(DSP):c.5449G>A (p.Val1817Met)
|
|
|
|
NM_004415.4(DSP):c.5481A>G (p.Ala1827=)
|
|
|
|
NM_004415.4(DSP):c.5489A>G (p.Gln1830Arg)
|
|
|
|
NM_004415.4(DSP):c.5492G>A (p.Arg1831Lys)
|
|
|
|
NM_004415.4(DSP):c.5517A>G (p.Ala1839=)
|
rs764240800
|
|
|
NM_004415.4(DSP):c.5526T>C (p.Thr1842=)
|
rs2113698060
|
|
|
NM_004415.4(DSP):c.5544G>A (p.Arg1848=)
|
rs727503004
|
|
|
NM_004415.4(DSP):c.5598G>A (p.Gln1866=)
|
|
|
|
NM_004415.4(DSP):c.55C>T (p.Arg19Cys)
|
rs777340009
|
|
|
NM_004415.4(DSP):c.564C>T (p.Thr188=)
|
rs2113659978
|
|
|
NM_004415.4(DSP):c.5669G>A (p.Arg1890Lys)
|
|
|
|
NM_004415.4(DSP):c.5679C>T (p.Asn1893=)
|
rs1367738238
|
|
|
NM_004415.4(DSP):c.5697C>T (p.Ile1899=)
|
rs879254348
|
|
|
NM_004415.4(DSP):c.5706C>G (p.Leu1902=)
|
rs879254349
|
|
|
NM_004415.4(DSP):c.5711C>T (p.Ala1904Val)
|
rs1473162721
|
|
|
NM_004415.4(DSP):c.572G>A (p.Cys191Tyr)
|
|
|
|
NM_004415.4(DSP):c.5734A>C (p.Arg1912=)
|
|
|
|
NM_004415.4(DSP):c.5736G>A (p.Arg1912=)
|
rs371873840
|
|
|
NM_004415.4(DSP):c.5736G>T (p.Arg1912Ser)
|
rs371873840
|
|
|
NM_004415.4(DSP):c.5743C>A (p.Arg1915Ser)
|
|
|
|
NM_004415.4(DSP):c.5745T>C (p.Arg1915=)
|
rs2113698631
|
|
|
NM_004415.4(DSP):c.5748G>A (p.Lys1916=)
|
|
|
|
NM_004415.4(DSP):c.575T>C (p.Leu192Ser)
|
|
|
|
NM_004415.4(DSP):c.5785G>A (p.Glu1929Lys)
|
|
|
|
NM_004415.4(DSP):c.5798C>G (p.Ser1933Cys)
|
|
|
|
NM_004415.4(DSP):c.57C>A (p.Arg19=)
|
rs2113628728
|
|
|
NM_004415.4(DSP):c.5819A>T (p.Asp1940Val)
|
rs1430290356
|
|
|
NM_004415.4(DSP):c.5838A>G (p.Pro1946=)
|
|
|
|
NM_004415.4(DSP):c.5840A>G (p.Tyr1947Cys)
|
|
|
|
NM_004415.4(DSP):c.5844G>C (p.Gly1948=)
|
|
|
|
NM_004415.4(DSP):c.5852G>A (p.Arg1951Gln)
|
|
|
|
NM_004415.4(DSP):c.5859C>T (p.Thr1953=)
|
|
|
|
NM_004415.4(DSP):c.5892C>T (p.Ser1964=)
|
|
|
|
NM_004415.4(DSP):c.5898G>A (p.Leu1966=)
|
rs1026631797
|
|
|
NM_004415.4(DSP):c.5901G>T (p.Val1967=)
|
rs2113699039
|
|
|
NM_004415.4(DSP):c.5907T>C (p.Asp1969=)
|
|
|
|
NM_004415.4(DSP):c.5910G>A (p.Gly1970=)
|
|
|
|
NM_004415.4(DSP):c.5916G>A (p.Arg1972=)
|
rs1581821297
|
|
|
NM_004415.4(DSP):c.591G>A (p.Gln197=)
|
rs2113660086
|
|
|
NM_004415.4(DSP):c.5958C>A (p.Ile1986=)
|
|
|
|
NM_004415.4(DSP):c.597+15G>A
|
|
|
|
NM_004415.4(DSP):c.597+17A>G
|
rs779437301
|
|
|
NM_004415.4(DSP):c.597+19A>C
|
|
|
|
NM_004415.4(DSP):c.5972T>C (p.Leu1991Ser)
|
|
|
|
NM_004415.4(DSP):c.598-13_598-8del
|
|
|
|
NM_004415.4(DSP):c.598-19C>T
|
|
|
|
NM_004415.4(DSP):c.598-4G>T
|
rs747448946
|
|
|
NM_004415.4(DSP):c.5988G>A (p.Lys1996=)
|
|
|
|
NM_004415.4(DSP):c.600G>A (p.Ala200=)
|
rs748400605
|
|
|
NM_004415.4(DSP):c.6021A>G (p.Glu2007=)
|
|
|
|
NM_004415.4(DSP):c.6028C>T (p.Pro2010Ser)
|
|
|
|
NM_004415.4(DSP):c.603G>A (p.Glu201=)
|
rs770080985
|
|
|
NM_004415.4(DSP):c.604A>G (p.Met202Val)
|
|
|
|
NM_004415.4(DSP):c.6055G>A (p.Ala2019Thr)
|
rs771974957
|
|
|
NM_004415.4(DSP):c.6055G>T (p.Ala2019Ser)
|
rs771974957
|
|
|
NM_004415.4(DSP):c.6063A>T (p.Ala2021=)
|
|
|
|
NM_004415.4(DSP):c.6068C>G (p.Ala2023Gly)
|
|
|
|
NM_004415.4(DSP):c.6072T>C (p.Ser2024=)
|
|
|
|
NM_004415.4(DSP):c.6075T>A (p.Pro2025=)
|
rs2113699490
|
|
|
NM_004415.4(DSP):c.6084A>G (p.Lys2028=)
|
rs2113699503
|
|
|
NM_004415.4(DSP):c.6090T>A (p.Ser2030=)
|
|
|
|
NM_004415.4(DSP):c.6105G>A (p.Lys2035=)
|
rs2113699553
|
|
|
NM_004415.4(DSP):c.6117A>G (p.Leu2039=)
|
|
|
|
NM_004415.4(DSP):c.6120C>T (p.Ile2040=)
|
|
|
|
NM_004415.4(DSP):c.6138C>A (p.Val2046=)
|
|
|
|
NM_004415.4(DSP):c.6171T>C (p.Gly2057=)
|
|
|
|
NM_004415.4(DSP):c.6187C>T (p.Arg2063Trp)
|
rs374090050
|
|
|
NM_004415.4(DSP):c.6207C>G (p.Val2069=)
|
|
|
|
NM_004415.4(DSP):c.6222T>G (p.Ala2074=)
|
rs1759520376
|
|
|
NM_004415.4(DSP):c.6231C>T (p.Leu2077=)
|
|
|
|
NM_004415.4(DSP):c.6237C>T (p.Asp2079=)
|
rs1309030788
|
|
|
NM_004415.4(DSP):c.6243T>C (p.Asp2081=)
|
rs1759521514
|
|
|
NM_004415.4(DSP):c.6260A>G (p.Tyr2087Cys)
|
rs1244910374
|
|
|
NM_004415.4(DSP):c.6262G>T (p.Ala2088Ser)
|
|
|
|
NM_004415.4(DSP):c.6297A>G (p.Pro2099=)
|
rs1759525136
|
|
|
NM_004415.4(DSP):c.6305G>T (p.Gly2102Val)
|
|
|
|
NM_004415.4(DSP):c.6306C>T (p.Gly2102=)
|
|
|
|
NM_004415.4(DSP):c.630C>T (p.Asp210=)
|
rs2113665093
|
|
|
NM_004415.4(DSP):c.6312A>G (p.Thr2104=)
|
|
|
|
NM_004415.4(DSP):c.6367C>A (p.Arg2123Ser)
|
|
|
|
NM_004415.4(DSP):c.6375G>A (p.Leu2125=)
|
rs2113700156
|
|
|
NM_004415.4(DSP):c.6395G>A (p.Gly2132Glu)
|
|
|
|
NM_004415.4(DSP):c.63G>A (p.Glu21=)
|
|
|
|
NM_004415.4(DSP):c.6417C>T (p.Asn2139=)
|
|
|
|
NM_004415.4(DSP):c.6432A>G (p.Pro2144=)
|
rs773730187
|
|
|
NM_004415.4(DSP):c.6432A>T (p.Pro2144=)
|
rs773730187
|
|
|
NM_004415.4(DSP):c.6441C>T (p.Val2147=)
|
rs762513279
|
|
|
NM_004415.4(DSP):c.6453G>A (p.Arg2151=)
|
|
|
|
NM_004415.4(DSP):c.6472T>C (p.Leu2158=)
|
rs1455927842
|
|
|
NM_004415.4(DSP):c.6477T>C (p.Tyr2159=)
|
rs1014118868
|
|
|
NM_004415.4(DSP):c.6479G>C (p.Arg2160Pro)
|
rs146642551
|
|
|
NM_004415.4(DSP):c.6480A>T (p.Arg2160=)
|
|
|
|
NM_004415.4(DSP):c.6482C>T (p.Ser2161Phe)
|
|
|
|
NM_004415.4(DSP):c.6483C>G (p.Ser2161=)
|
rs560775653
|
|
|
NM_004415.4(DSP):c.6495C>G (p.Pro2165=)
|
|
|
|
NM_004415.4(DSP):c.6501T>C (p.Asp2167=)
|
rs2113700524
|
|
|
NM_004415.4(DSP):c.6526G>A (p.Val2176Ile)
|
rs746533703
|
|
|
NM_004415.4(DSP):c.6552G>T (p.Val2184=)
|
rs2113700626
|
|
|
NM_004415.4(DSP):c.6555G>A (p.Gln2185=)
|
rs1759540115
|
|
|
NM_004415.4(DSP):c.6564A>C (p.Glu2188Asp)
|
|
|
|
NM_004415.4(DSP):c.6565C>A (p.Arg2189=)
|
|
|
|
NM_004415.4(DSP):c.6570C>T (p.Cys2190=)
|
|
|
|
NM_004415.4(DSP):c.6572G>A (p.Arg2191Lys)
|
rs527888978
|
|
|
NM_004415.4(DSP):c.6576C>T (p.Ile2192=)
|
rs1032400756
|
|
|
NM_004415.4(DSP):c.6592C>T (p.Leu2198=)
|
rs752057967
|
|
|
NM_004415.4(DSP):c.6597C>G (p.Leu2199=)
|
|
|
|
NM_004415.4(DSP):c.6603T>G (p.Leu2201=)
|
rs758152190
|
|
|
NM_004415.4(DSP):c.6630C>T (p.Phe2210=)
|
|
|
|
NM_004415.4(DSP):c.6640A>C (p.Arg2214=)
|
|
|
|
NM_004415.4(DSP):c.6643C>A (p.Gln2215Lys)
|
|
|
|
NM_004415.4(DSP):c.6654C>G (p.Thr2218=)
|
rs727503005
|
|
|
NM_004415.4(DSP):c.666G>A (p.Arg222=)
|
|
|
|
NM_004415.4(DSP):c.6675T>C (p.Ser2225=)
|
rs2113700866
|
|
|
NM_004415.4(DSP):c.6702T>C (p.Asn2234=)
|
rs2113700924
|
|
|
NM_004415.4(DSP):c.6723T>A (p.Ile2241=)
|
rs1219037519
|
|
|
NM_004415.4(DSP):c.6729T>C (p.Tyr2243=)
|
|
|
|
NM_004415.4(DSP):c.6744G>A (p.Glu2248=)
|
rs1581822997
|
|
|
NM_004415.4(DSP):c.6771A>G (p.Ser2257=)
|
rs2113701029
|
|
|
NM_004415.4(DSP):c.6785G>A (p.Gly2262Asp)
|
|
|
|
NM_004415.4(DSP):c.6828G>A (p.Glu2276=)
|
rs2113701105
|
|
|
NM_004415.4(DSP):c.6849C>G (p.Val2283=)
|
rs2113701124
|
|
|
NM_004415.4(DSP):c.684C>A (p.Ile228=)
|
|
|
|
NM_004415.4(DSP):c.684C>T (p.Ile228=)
|
rs753444512
|
|
|
NM_004415.4(DSP):c.6851G>A (p.Arg2284Gln)
|
|
|
|
NM_004415.4(DSP):c.685G>A (p.Gly229Ser)
|
rs376185352
|
|
|
NM_004415.4(DSP):c.6865C>T (p.Leu2289=)
|
|
|
|
NM_004415.4(DSP):c.6871T>C (p.Leu2291=)
|
|
|
|
NM_004415.4(DSP):c.6894T>C (p.Thr2298=)
|
|
|
|
NM_004415.4(DSP):c.6918C>T (p.Ser2306=)
|
rs1275471884
|
|
|
NM_004415.4(DSP):c.6937G>A (p.Glu2313Lys)
|
rs1411539976
|
|
|
NM_004415.4(DSP):c.6945C>A (p.Ala2315=)
|
rs761888068
|
|
|
NM_004415.4(DSP):c.694C>T (p.Arg232Cys)
|
rs777847026
|
|
|
NM_004415.4(DSP):c.6953G>C (p.Arg2318Thr)
|
rs773192441
|
|
|
NM_004415.4(DSP):c.6963G>A (p.Val2321=)
|
rs2113701399
|
|
|
NM_004415.4(DSP):c.6972G>A (p.Glu2324=)
|
rs2113701409
|
|
|
NM_004415.4(DSP):c.6993T>C (p.Ser2331=)
|
rs767282172
|
|
|
NM_004415.4(DSP):c.7014G>A (p.Gly2338=)
|
rs1054965369
|
|
|
NM_004415.4(DSP):c.7017T>C (p.Tyr2339=)
|
rs753946358
|
|
|
NM_004415.4(DSP):c.7033G>C (p.Gly2345Arg)
|
|
|
|
NM_004415.4(DSP):c.7039A>C (p.Ile2347Leu)
|
rs768837509
|
|
|
NM_004415.4(DSP):c.7044C>T (p.Ile2348=)
|
rs2113701537
|
|
|
NM_004415.4(DSP):c.706G>C (p.Asp236His)
|
rs1044634464
|
|
|
NM_004415.4(DSP):c.7077C>A (p.Ile2359=)
|
|
|
|
NM_004415.4(DSP):c.7090G>A (p.Gly2364Ser)
|
|
|
|
NM_004415.4(DSP):c.7128G>A (p.Gly2376=)
|
|
|
|
NM_004415.4(DSP):c.7131C>A (p.Ile2377=)
|
rs1581823562
|
|
|
NM_004415.4(DSP):c.7154G>A (p.Arg2385His)
|
rs1396768987
|
|
|
NM_004415.4(DSP):c.7167C>T (p.Asp2389=)
|
rs2113701740
|
|
|
NM_004415.4(DSP):c.7177A>C (p.Lys2393Gln)
|
|
|
|
NM_004415.4(DSP):c.717A>G (p.Lys239=)
|
|
|
|
NM_004415.4(DSP):c.7224A>C (p.Pro2408=)
|
rs376081052
|
|
|
NM_004415.4(DSP):c.726+11G>A
|
|
|
|
NM_004415.4(DSP):c.726+19T>C
|
|
|
|
NM_004415.4(DSP):c.726+20T>G
|
|
|
|
NM_004415.4(DSP):c.726+9_726+12del
|
|
|
|
NM_004415.4(DSP):c.7269T>C (p.Asn2423=)
|
rs1759564582
|
|
|
NM_004415.4(DSP):c.727-12del
|
rs2113666826
|
|
|
NM_004415.4(DSP):c.727-13T>C
|
rs1293172796
|
|
|
NM_004415.4(DSP):c.727-20T>G
|
|
|
|
NM_004415.4(DSP):c.727-5_727-3del
|
|
|
|
NM_004415.4(DSP):c.727-6T>C
|
|
|
|
NM_004415.4(DSP):c.7299C>T (p.Cys2433=)
|
rs2113702040
|
|
|
NM_004415.4(DSP):c.729C>G (p.Arg243=)
|
rs141028505
|
|
|
NM_004415.4(DSP):c.7307A>T (p.Asp2436Val)
|
|
|
|
NM_004415.4(DSP):c.7320G>C (p.Gly2440=)
|
|
|
|
NM_004415.4(DSP):c.7335T>A (p.Pro2445=)
|
rs1262869578
|
|
|
NM_004415.4(DSP):c.7359G>A (p.Val2453=)
|
rs2113702163
|
|
|
NM_004415.4(DSP):c.735A>G (p.Lys245=)
|
|
|
|
NM_004415.4(DSP):c.7374G>T (p.Lys2458Asn)
|
|
|
|
NM_004415.4(DSP):c.7410C>T (p.Asp2470=)
|
rs2113702276
|
|
|
NM_004415.4(DSP):c.741G>C (p.Ala247=)
|
|
|
|
NM_004415.4(DSP):c.7443G>A (p.Glu2481=)
|
rs2113702324
|
|
|
NM_004415.4(DSP):c.7458C>T (p.Gly2486=)
|
rs1049252239
|
|
|
NM_004415.4(DSP):c.7488G>C (p.Leu2496=)
|
|
|
|
NM_004415.4(DSP):c.7497G>A (p.Gln2499=)
|
|
|
|
NM_004415.4(DSP):c.7554C>A (p.Val2518=)
|
rs573057380
|
|
|
NM_004415.4(DSP):c.7554C>T (p.Val2518=)
|
|
|
|
NM_004415.4(DSP):c.7557G>T (p.Leu2519=)
|
|
|
|
NM_004415.4(DSP):c.7581G>A (p.Gln2527=)
|
rs879254350
|
|
|
NM_004415.4(DSP):c.7589T>C (p.Ile2530Thr)
|
rs768564872
|
|
|
NM_004415.4(DSP):c.7608G>A (p.Lys2536=)
|
rs2113702785
|
|
|
NM_004415.4(DSP):c.7611C>T (p.Gly2537=)
|
|
|
|
NM_004415.4(DSP):c.7621A>C (p.Arg2541=)
|
|
|
|
NM_004415.4(DSP):c.7641C>T (p.Tyr2547=)
|
|
|
|
NM_004415.4(DSP):c.7643G>A (p.Arg2548Gln)
|
rs377565339
|
|
|
NM_004415.4(DSP):c.7647C>T (p.Ser2549=)
|
rs765385403
|
|
|
NM_004415.4(DSP):c.7648G>A (p.Gly2550Ser)
|
rs781151826
|
|
|
NM_004415.4(DSP):c.7648G>C (p.Gly2550Arg)
|
rs781151826
|
|
|
NM_004415.4(DSP):c.7650C>G (p.Gly2550=)
|
|
|
|
NM_004415.4(DSP):c.7656C>T (p.Leu2552=)
|
rs954061184
|
|
|
NM_004415.4(DSP):c.7667A>T (p.Gln2556Leu)
|
rs760434412
|
|
|
NM_004415.4(DSP):c.7668A>G (p.Gln2556=)
|
|
|
|
NM_004415.4(DSP):c.7701C>G (p.Val2567=)
|
|
|
|
NM_004415.4(DSP):c.7725T>C (p.Ser2575=)
|
|
|
|
NM_004415.4(DSP):c.7728T>G (p.Gly2576=)
|
rs545149894
|
|
|
NM_004415.4(DSP):c.7752C>T (p.Ser2584=)
|
rs1554109092
|
|
|
NM_004415.4(DSP):c.7758A>G (p.Arg2586=)
|
rs1581824761
|
|
|
NM_004415.4(DSP):c.777+19C>T
|
|
|
|
NM_004415.4(DSP):c.777+7T>C
|
|
|
|
NM_004415.4(DSP):c.7779T>A (p.Ile2593=)
|
|
|
|
NM_004415.4(DSP):c.778-11C>T
|
rs766022259
|
|
|
NM_004415.4(DSP):c.778-15G>A
|
rs2113669114
|
|
|
NM_004415.4(DSP):c.778-20C>A
|
|
|
|
NM_004415.4(DSP):c.7809C>T (p.Thr2603=)
|
|
|
|
NM_004415.4(DSP):c.780A>G (p.Lys260=)
|
rs1554106489
|
|
|
NM_004415.4(DSP):c.7817G>A (p.Ser2606Asn)
|
rs199597935
|
|
|
NM_004415.4(DSP):c.7823C>T (p.Ser2608Phe)
|
rs777066674
|
|
|
NM_004415.4(DSP):c.7836C>G (p.Thr2612=)
|
|
|
|
NM_004415.4(DSP):c.7837C>T (p.Leu2613=)
|
rs1286275087
|
|
|
NM_004415.4(DSP):c.7839G>A (p.Leu2613=)
|
rs770324205
|
|
|
NM_004415.4(DSP):c.7893C>A (p.Ile2631=)
|
rs778552693
|
|
|
NM_004415.4(DSP):c.7893C>T (p.Ile2631=)
|
rs778552693
|
|
|
NM_004415.4(DSP):c.78G>A (p.Leu26=)
|
|
|
|
NM_004415.4(DSP):c.78G>T (p.Leu26=)
|
rs71559180
|
|
|
NM_004415.4(DSP):c.7947G>A (p.Arg2649=)
|
|
|
|
NM_004415.4(DSP):c.7951C>T (p.Leu2651=)
|
|
|
|
NM_004415.4(DSP):c.7963G>T (p.Ala2655Ser)
|
|
|
|
NM_004415.4(DSP):c.7968C>T (p.Cys2656=)
|
rs2113703768
|
|
|
NM_004415.4(DSP):c.7971A>G (p.Thr2657=)
|
rs2113703783
|
|
|
NM_004415.4(DSP):c.7986C>T (p.His2662=)
|
rs753720770
|
|
|
NM_004415.4(DSP):c.7989A>G (p.Pro2663=)
|
|
|
|
NM_004415.4(DSP):c.7997G>A (p.Gly2666Asp)
|
rs750085948
|
|
|
NM_004415.4(DSP):c.8004G>A (p.Lys2668=)
|
rs1581825294
|
|
|
NM_004415.4(DSP):c.8007G>A (p.Leu2669=)
|
rs746561567
|
|
|
NM_004415.4(DSP):c.8021C>G (p.Ala2674Gly)
|
rs778480531
|
|
|
NM_004415.4(DSP):c.8035G>A (p.Val2679Met)
|
|
|
|
NM_004415.4(DSP):c.8064G>A (p.Leu2688=)
|
rs1581825424
|
|
|
NM_004415.4(DSP):c.8067G>C (p.Lys2689Asn)
|
|
|
|
NM_004415.4(DSP):c.807G>A (p.Leu269=)
|
|
|
|
NM_004415.4(DSP):c.8095G>C (p.Glu2699Gln)
|
|
|
|
NM_004415.4(DSP):c.8106G>A (p.Lys2702=)
|
|
|
|
NM_004415.4(DSP):c.8115G>A (p.Lys2705=)
|
rs1759619330
|
|
|
NM_004415.4(DSP):c.8130A>G (p.Ala2710=)
|
rs1440748149
|
|
|
NM_004415.4(DSP):c.8133G>A (p.Glu2711=)
|
rs375348086
|
|
|
NM_004415.4(DSP):c.8139G>A (p.Val2713=)
|
|
|
|
NM_004415.4(DSP):c.8139G>C (p.Val2713=)
|
rs555992606
|
|
|
NM_004415.4(DSP):c.8148A>G (p.Lys2716=)
|
|
|
|
NM_004415.4(DSP):c.8169C>G (p.Gly2723=)
|
rs1259495339
|
|
|
NM_004415.4(DSP):c.8178C>T (p.Phe2726=)
|
rs901698792
|
|
|
NM_004415.4(DSP):c.8187C>T (p.Phe2729=)
|
rs369619485
|
|
|
NM_004415.4(DSP):c.8199G>A (p.Thr2733=)
|
rs145085696
|
|
|
NM_004415.4(DSP):c.8199G>T (p.Thr2733=)
|
|
|
|
NM_004415.4(DSP):c.81C>A (p.Arg27=)
|
rs773559423
|
|
|
NM_004415.4(DSP):c.81C>G (p.Arg27=)
|
|
|
|
NM_004415.4(DSP):c.8211T>G (p.Val2737=)
|
rs543240936
|
|
|
NM_004415.4(DSP):c.8232G>A (p.Arg2744=)
|
rs780253169
|
|
|
NM_004415.4(DSP):c.8238C>T (p.Ser2746=)
|
rs781351433
|
|
|
NM_004415.4(DSP):c.8241C>G (p.Thr2747=)
|
|
|
|
NM_004415.4(DSP):c.8241C>T (p.Thr2747=)
|
|
|
|
NM_004415.4(DSP):c.8253C>A (p.Ile2751=)
|
rs1165200201
|
|
|
NM_004415.4(DSP):c.8262G>A (p.Gly2754=)
|
rs187226788
|
|
|
NM_004415.4(DSP):c.8262G>T (p.Gly2754=)
|
rs187226788
|
|
|
NM_004415.4(DSP):c.8280C>T (p.Ala2760=)
|
rs1203424345
|
|
|
NM_004415.4(DSP):c.8302A>G (p.Ser2768Gly)
|
|
|
|
NM_004415.4(DSP):c.8316A>G (p.Lys2772=)
|
rs2113704844
|
|
|
NM_004415.4(DSP):c.8320C>T (p.Leu2774=)
|
rs397516964
|
|
|
NM_004415.4(DSP):c.8322G>A (p.Leu2774=)
|
rs1455098095
|
|
|
NM_004415.4(DSP):c.8325C>G (p.Thr2775=)
|
rs2113704869
|
|
|
NM_004415.4(DSP):c.8343A>T (p.Leu2781Phe)
|
|
|
|
NM_004415.4(DSP):c.8354A>G (p.Tyr2785Cys)
|
|
|
|
NM_004415.4(DSP):c.8382A>G (p.Val2794=)
|
rs1025921677
|
|
|
NM_004415.4(DSP):c.8388T>C (p.Asp2796=)
|
rs1478242707
|
|
|
NM_004415.4(DSP):c.8391C>A (p.Ile2797=)
|
rs372909009
|
|
|
NM_004415.4(DSP):c.8403C>G (p.Arg2801=)
|
|
|
|
NM_004415.4(DSP):c.8414C>T (p.Ala2805Val)
|
|
|
|
NM_004415.4(DSP):c.8418C>A (p.Ala2806=)
|
rs1581826536
|
|
|
NM_004415.4(DSP):c.843G>A (p.Arg281=)
|
rs1427960878
|
|
|
NM_004415.4(DSP):c.8442C>A (p.Pro2814=)
|
rs1581826610
|
|
|
NM_004415.4(DSP):c.8442C>T (p.Pro2814=)
|
rs1581826610
|
|
|
NM_004415.4(DSP):c.8451C>T (p.Tyr2817=)
|
|
|
|
NM_004415.4(DSP):c.8463G>A (p.Ser2821=)
|
|
|
|
NM_004415.4(DSP):c.8472_8483del (p.2827_2830SGSR[4])
|
rs397516967
|
|
|
NM_004415.4(DSP):c.8476C>G (p.Arg2826Gly)
|
rs139969658
|
|
|
NM_004415.4(DSP):c.8478C>T (p.Arg2826=)
|
|
|
|
NM_004415.4(DSP):c.8481C>G (p.Ser2827=)
|
|
|
|
NM_004415.4(DSP):c.8481_8492del (p.2827_2830SGSR[4])
|
rs397516968
|
|
|
NM_004415.4(DSP):c.8484C>T (p.Gly2828=)
|
rs1467235605
|
|
|
NM_004415.4(DSP):c.8490C>A (p.Arg2830=)
|
rs1221382084
|
|
|
NM_004415.4(DSP):c.8493G>A (p.Ser2831=)
|
rs397516969
|
|
|
NM_004415.4(DSP):c.8493_8504del (p.2827SGSR[4])
|
rs748194022
|
|
|
NM_004415.4(DSP):c.8496ATCTCGCTCCGG[1] (p.2827SGSR[4])
|
rs397516971
|
|
|
NM_004415.4(DSP):c.8499T>C (p.Ser2833=)
|
rs1468666445
|
|
|
NM_004415.4(DSP):c.8505C>G (p.Ser2835=)
|
|
|
|
NM_004415.4(DSP):c.8512C>T (p.Arg2838Cys)
|
|
|
|
NM_004415.4(DSP):c.8515_8517delinsAGT (p.Ser2839=)
|
rs1554109285
|
|
|
NM_004415.4(DSP):c.8516C>G (p.Ser2839Cys)
|
rs750438076
|
|
|
NM_004415.4(DSP):c.8526C>T (p.Arg2842=)
|
|
|
|
NM_004415.4(DSP):c.8529_8540del (p.2827_2830SGSR[4])
|
rs794728151
|
|
|
NM_004415.4(DSP):c.8544A>T (p.Gly2848=)
|
|
|
|
NM_004415.4(DSP):c.8553C>T (p.Asp2851=)
|
rs1554109307
|
|
|
NM_004415.4(DSP):c.8556C>T (p.Ala2852=)
|
rs1163538965
|
|
|
NM_004415.4(DSP):c.8559A>C (p.Thr2853=)
|
rs1759653585
|
|
|
NM_004415.4(DSP):c.8559A>G (p.Thr2853=)
|
rs1759653585
|
|
|
NM_004415.4(DSP):c.8582C>T (p.Ser2861Phe)
|
rs1269834512
|
|
|
NM_004415.4(DSP):c.8586C>T (p.Tyr2862=)
|
|
|
|
NM_004415.4(DSP):c.8598T>C (p.Ser2866=)
|
|
|
|
NM_004415.4(DSP):c.85G>A (p.Glu29Lys)
|
|
|
|
NM_004415.4(DSP):c.8601T>C (p.Ser2867=)
|
|
|
|
NM_004415.4(DSP):c.882G>A (p.Leu294=)
|
rs2113669406
|
|
|
NM_004415.4(DSP):c.891C>T (p.Asp297=)
|
rs2113669443
|
|
|
NM_004415.4(DSP):c.939+11C>G
|
|
|
|
NM_004415.4(DSP):c.939+11C>T
|
|
|
|
NM_004415.4(DSP):c.939+13dup
|
rs730880360
|
|
|
NM_004415.4(DSP):c.939+15C>T
|
|
|
|
NM_004415.4(DSP):c.939+18G>A
|
|
|
|
NM_004415.4(DSP):c.939+3_939+6dup
|
|
|
|
NM_004415.4(DSP):c.939+8C>G
|
|
|
|
NM_004415.4(DSP):c.939+9A>G
|
|
|
|
NM_004415.4(DSP):c.940-11T>C
|
|
|
|
NM_004415.4(DSP):c.940-12C>T
|
rs2113670873
|
|
|
NM_004415.4(DSP):c.944G>T (p.Arg315Leu)
|
rs558825586
|
|
|
NM_004415.4(DSP):c.945C>T (p.Arg315=)
|
|
|
|
NM_004415.4(DSP):c.955C>T (p.Leu319=)
|
rs777852039
|
|
|
NM_004415.4(DSP):c.96C>T (p.Ser32=)
|
rs1440994214
|
|
|
NM_004415.4(DSP):c.992A>G (p.Gln331Arg)
|
rs746517026
|
|
|
NM_004415.4(DSP):c.99C>T (p.Gly33=)
|
rs755898551
|
|
|
NM_004453.4(ETFDH):c.1002G>C (p.Leu334=)
|
rs1476673975
|
|
|
NM_004453.4(ETFDH):c.1026G>A (p.Arg342=)
|
|
|
|
NM_004453.4(ETFDH):c.1050G>A (p.Arg350=)
|
|
|
|
NM_004453.4(ETFDH):c.1053A>T (p.Pro351=)
|
|
|
|
NM_004453.4(ETFDH):c.1056C>T (p.Thr352=)
|
rs2150312272
|
|
|
NM_004453.4(ETFDH):c.1089C>T (p.Ala363=)
|
rs1774391973
|
|
|
NM_004453.4(ETFDH):c.1092A>G (p.Arg364=)
|
|
|
|
NM_004453.4(ETFDH):c.1095T>C (p.Ala365=)
|
rs1774392244
|
|
|
NM_004453.4(ETFDH):c.1098C>T (p.Leu366=)
|
rs1245353864
|
|
|
NM_004453.4(ETFDH):c.1116+13A>G
|
|
|
|
NM_004453.4(ETFDH):c.1116+7C>T
|
rs748640706
|
|
|
NM_004453.4(ETFDH):c.1117-11T>C
|
rs917132143
|
|
|
NM_004453.4(ETFDH):c.1117-19T>G
|
|
|
|
NM_004453.4(ETFDH):c.1117-20C>G
|
|
|
|
NM_004453.4(ETFDH):c.1117-9T>C
|
|
|
|
NM_004453.4(ETFDH):c.1140T>G (p.Pro380=)
|
rs2126309197
|
|
|
NM_004453.4(ETFDH):c.114T>C (p.Thr38=)
|
|
|
|
NM_004453.4(ETFDH):c.1155T>C (p.Ile385=)
|
rs2126309228
|
|
|
NM_004453.4(ETFDH):c.1170T>C (p.Gly390=)
|
|
|
|
NM_004453.4(ETFDH):c.117G>A (p.Val39=)
|
rs2150304380
|
|
|
NM_004453.4(ETFDH):c.1182T>G (p.Val394=)
|
rs1230662616
|
|
|
NM_004453.4(ETFDH):c.1197T>G (p.Gly399=)
|
rs2126309283
|
|
|
NM_004453.4(ETFDH):c.1209A>C (p.Ala403=)
|
rs1198347315
|
|
|
NM_004453.4(ETFDH):c.1239T>C (p.Ser413=)
|
|
|
|
NM_004453.4(ETFDH):c.1252C>T (p.Leu418=)
|
rs769904185
|
|
|
NM_004453.4(ETFDH):c.1257T>A (p.Thr419=)
|
|
|
|
NM_004453.4(ETFDH):c.1269C>G (p.Leu423=)
|
|
|
|
NM_004453.4(ETFDH):c.1278G>A (p.Lys426=)
|
rs1284823413
|
|
|
NM_004453.4(ETFDH):c.1285+14G>A
|
|
|
|
NM_004453.4(ETFDH):c.1285+16G>A
|
|
|
|
NM_004453.4(ETFDH):c.1285+17T>C
|
|
|
|
NM_004453.4(ETFDH):c.1286-10T>C
|
rs2126314578
|
|
|
NM_004453.4(ETFDH):c.1286-12T>C
|
|
|
|
NM_004453.4(ETFDH):c.1286-15T>C
|
|
|
|
NM_004453.4(ETFDH):c.1286-20T>C
|
|
|
|
NM_004453.4(ETFDH):c.129T>C (p.Thr43=)
|
|
|
|
NM_004453.4(ETFDH):c.1315T>C (p.Leu439=)
|
rs1580422521
|
|
|
NM_004453.4(ETFDH):c.1323C>T (p.Asn441=)
|
rs1580422538
|
|
|
NM_004453.4(ETFDH):c.1332A>G (p.Val444=)
|
|
|
|
NM_004453.4(ETFDH):c.1365A>G (p.Arg455=)
|
rs1580422667
|
|
|
NM_004453.4(ETFDH):c.1386G>T (p.Leu462=)
|
|
|
|
NM_004453.4(ETFDH):c.1389T>A (p.Gly463=)
|
|
|
|
NM_004453.4(ETFDH):c.1395T>C (p.Tyr465=)
|
|
|
|
NM_004453.4(ETFDH):c.1398A>G (p.Gly466=)
|
rs1400986353
|
|
|
NM_004453.4(ETFDH):c.1398A>T (p.Gly466=)
|
|
|
|
NM_004453.4(ETFDH):c.1416A>T (p.Gly472=)
|
|
|
|
NM_004453.4(ETFDH):c.1449G>A (p.Pro483=)
|
rs143873407
|
|
|
NM_004453.4(ETFDH):c.1468+10A>G
|
rs144205191
|
|
|
NM_004453.4(ETFDH):c.1468+10A>T
|
rs144205191
|
|
|
NM_004453.4(ETFDH):c.1468+14G>A
|
|
|
|
NM_004453.4(ETFDH):c.1468+14G>C
|
|
|
|
NM_004453.4(ETFDH):c.1468+16G>A
|
|
|
|
NM_004453.4(ETFDH):c.1468+20G>A
|
|
|
|
NM_004453.4(ETFDH):c.1468+20G>C
|
|
|
|
NM_004453.4(ETFDH):c.1468+7C>T
|
|
|
|
NM_004453.4(ETFDH):c.1468+9A>G
|
|
|
|
NM_004453.4(ETFDH):c.1469-17C>T
|
|
|
|
NM_004453.4(ETFDH):c.1469-18C>T
|
|
|
|
NM_004453.4(ETFDH):c.1469-19T>G
|
rs2126316001
|
|
|
NM_004453.4(ETFDH):c.1469-4G>A
|
|
|
|
NM_004453.4(ETFDH):c.1469-4dup
|
|
|
|
NM_004453.4(ETFDH):c.1469-7G>T
|
|
|
|
NM_004453.4(ETFDH):c.1469-8T>C
|
rs1774625470
|
|
|
NM_004453.4(ETFDH):c.1485G>A (p.Arg495=)
|
|
|
|
NM_004453.4(ETFDH):c.1503T>C (p.Asp501=)
|
rs752947878
|
|
|
NM_004453.4(ETFDH):c.150C>T (p.Pro50=)
|
|
|
|
NM_004453.4(ETFDH):c.1539G>A (p.Gln513=)
|
|
|
|
NM_004453.4(ETFDH):c.1542C>T (p.Ile514=)
|
rs2126316304
|
|
|
NM_004453.4(ETFDH):c.1554C>T (p.Leu518=)
|
|
|
|
NM_004453.4(ETFDH):c.1555T>C (p.Leu519=)
|
rs533097197
|
|
|
NM_004453.4(ETFDH):c.1557G>A (p.Leu519=)
|
|
|
|
NM_004453.4(ETFDH):c.1560A>G (p.Ser520=)
|
rs566844923
|
|
|
NM_004453.4(ETFDH):c.1560A>T (p.Ser520=)
|
rs566844923
|
|
|
NM_004453.4(ETFDH):c.1563T>C (p.Ser521=)
|
|
|
|
NM_004453.4(ETFDH):c.1581T>G (p.Thr527=)
|
|
|
|
NM_004453.4(ETFDH):c.1584T>C (p.Asn528=)
|
rs2126316485
|
|
|
NM_004453.4(ETFDH):c.1593T>C (p.His531=)
|
rs2126316550
|
|
|
NM_004453.4(ETFDH):c.1596C>T (p.Asp532=)
|
|
|
|
NM_004453.4(ETFDH):c.1599G>A (p.Gln533=)
|
|
|
|
NM_004453.4(ETFDH):c.15A>G (p.Leu5=)
|
|
|
|
NM_004453.4(ETFDH):c.1602G>C (p.Pro534=)
|
|
|
|
NM_004453.4(ETFDH):c.1605A>G (p.Ala535=)
|
|
|
|
NM_004453.4(ETFDH):c.1623T>C (p.Asp541=)
|
rs1580423557
|
|
|
NM_004453.4(ETFDH):c.1626C>T (p.Asp542=)
|
|
|
|
NM_004453.4(ETFDH):c.1629T>C (p.Ser543=)
|
|
|
|
NM_004453.4(ETFDH):c.1641T>C (p.Asn547=)
|
|
|
|
NM_004453.4(ETFDH):c.1650G>A (p.Leu550=)
|
|
|
|
NM_004453.4(ETFDH):c.1653G>T (p.Ser551=)
|
rs1408118210
|
|
|
NM_004453.4(ETFDH):c.1662T>C (p.Asp554=)
|
rs2126316862
|
|
|
NM_004453.4(ETFDH):c.1674G>A (p.Gln558=)
|
rs2126316924
|
|
|
NM_004453.4(ETFDH):c.1677A>G (p.Arg559=)
|
|
|
|
NM_004453.4(ETFDH):c.1690+14T>C
|
|
|
|
NM_004453.4(ETFDH):c.1690+18T>C
|
|
|
|
NM_004453.4(ETFDH):c.1690+9T>G
|
|
|
|
NM_004453.4(ETFDH):c.1691-14_1691-9del
|
|
|
|
NM_004453.4(ETFDH):c.1691-15A>G
|
|
|
|
NM_004453.4(ETFDH):c.1691-15A>T
|
|
|
|
NM_004453.4(ETFDH):c.1691-18T>C
|
|
|
|
NM_004453.4(ETFDH):c.1691-4T>C
|
|
|
|
NM_004453.4(ETFDH):c.1691-7T>C
|
|
|
|
NM_004453.4(ETFDH):c.1691-8_1691-2dup
|
rs1326899328
|
|
|
NM_004453.4(ETFDH):c.1698T>C (p.Tyr566=)
|
rs2126320707
|
|
|
NM_004453.4(ETFDH):c.1716A>G (p.Glu572=)
|
rs2126320794
|
|
|
NM_004453.4(ETFDH):c.1725T>C (p.Asp575=)
|
rs1774697442
|
|
|
NM_004453.4(ETFDH):c.175+15G>C
|
rs2150304437
|
|
|
NM_004453.4(ETFDH):c.175+18T>A
|
rs778154689
|
|
|
NM_004453.4(ETFDH):c.175+19A>G
|
|
|
|
NM_004453.4(ETFDH):c.175+20C>G
|
|
|
|
NM_004453.4(ETFDH):c.175+3A>G
|
rs781151266
|
|
|
NM_004453.4(ETFDH):c.176-19G>T
|
|
|
|
NM_004453.4(ETFDH):c.176-20A>G
|
|
|
|
NM_004453.4(ETFDH):c.176-4C>T
|
|
|
|
NM_004453.4(ETFDH):c.176-5C>T
|
rs2150305143
|
|
|
NM_004453.4(ETFDH):c.1767T>C (p.Cys589=)
|
rs1580425819
|
|
|
NM_004453.4(ETFDH):c.1773A>G (p.Thr591=)
|
|
|
|
NM_004453.4(ETFDH):c.1800T>C (p.Asn600=)
|
rs2126321129
|
|
|
NM_004453.4(ETFDH):c.1806C>T (p.Asn602=)
|
|
|
|
NM_004453.4(ETFDH):c.180G>A (p.Val60=)
|
|
|
|
NM_004453.4(ETFDH):c.1815A>G (p.Val605=)
|
rs1248188975
|
|
|
NM_004453.4(ETFDH):c.183C>T (p.Asn61=)
|
rs2150305147
|
|
|
NM_004453.4(ETFDH):c.1848A>T (p.Gly616=)
|
|
|
|
NM_004453.4(ETFDH):c.21G>A (p.Lys7=)
|
rs1232501551
|
|
|
NM_004453.4(ETFDH):c.234T>A (p.Pro78=)
|
|
|
|
NM_004453.4(ETFDH):c.243C>A (p.Leu81=)
|
|
|
|
NM_004453.4(ETFDH):c.243C>G (p.Leu81=)
|
rs1186680703
|
|
|
NM_004453.4(ETFDH):c.24G>T (p.Leu8=)
|
|
|
|
NM_004453.4(ETFDH):c.252T>C (p.Ala84=)
|
|
|
|
NM_004453.4(ETFDH):c.259C>T (p.Leu87=)
|
rs2150305192
|
|
|
NM_004453.4(ETFDH):c.268T>C (p.Leu90=)
|
|
|
|
NM_004453.4(ETFDH):c.270G>A (p.Leu90=)
|
rs2150305205
|
|
|
NM_004453.4(ETFDH):c.282T>C (p.His94=)
|
|
|
|
NM_004453.4(ETFDH):c.288G>A (p.Lys96=)
|
|
|
|
NM_004453.4(ETFDH):c.291C>T (p.Asp97=)
|
rs2150305224
|
|
|
NM_004453.4(ETFDH):c.300G>A (p.Val100=)
|
rs1580396868
|
|
|
NM_004453.4(ETFDH):c.306A>C (p.Leu102=)
|
rs2150305233
|
|
|
NM_004453.4(ETFDH):c.306A>G (p.Leu102=)
|
rs2150305233
|
|
|
NM_004453.4(ETFDH):c.312G>A (p.Glu104=)
|
|
|
|
NM_004453.4(ETFDH):c.330A>C (p.Gly110=)
|
rs2150305251
|
|
|
NM_004453.4(ETFDH):c.339T>G (p.Thr113=)
|
|
|
|
NM_004453.4(ETFDH):c.34+11A>G
|
|
|
|
NM_004453.4(ETFDH):c.34+16C>A
|
|
|
|
NM_004453.4(ETFDH):c.34+17G>A
|
|
|
|
NM_004453.4(ETFDH):c.348G>A (p.Gly116=)
|
|
|
|
NM_004453.4(ETFDH):c.35-11T>C
|
|
|
|
NM_004453.4(ETFDH):c.35-16C>T
|
|
|
|
NM_004453.4(ETFDH):c.35-18T>A
|
|
|
|
NM_004453.4(ETFDH):c.35-20T>C
|
|
|
|
NM_004453.4(ETFDH):c.35-4G>A
|
|
|
|
NM_004453.4(ETFDH):c.35-6G>A
|
rs753999138
|
|
|
NM_004453.4(ETFDH):c.35-6G>T
|
rs753999138
|
|
|
NM_004453.4(ETFDH):c.35-7T>C
|
rs2150304320
|
|
|
NM_004453.4(ETFDH):c.35-8T>C
|
rs2150304318
|
|
|
NM_004453.4(ETFDH):c.36A>G (p.Ala12=)
|
rs201254467
|
|
|
NM_004453.4(ETFDH):c.387A>G (p.Pro129=)
|
rs1295185280
|
|
|
NM_004453.4(ETFDH):c.405+11T>C
|
|
|
|
NM_004453.4(ETFDH):c.405+13G>A
|
rs375086504
|
|
|
NM_004453.4(ETFDH):c.405+13G>T
|
|
|
|
NM_004453.4(ETFDH):c.406-13_406-11del
|
|
|
|
NM_004453.4(ETFDH):c.406-19T>C
|
|
|
|
NM_004453.4(ETFDH):c.406-20T>C
|
|
|
|
NM_004453.4(ETFDH):c.406-5T>C
|
|
|
|
NM_004453.4(ETFDH):c.411A>C (p.Pro137=)
|
rs1187372386
|
|
|
NM_004453.4(ETFDH):c.411A>G (p.Pro137=)
|
|
|
|
NM_004453.4(ETFDH):c.420T>C (p.Thr140=)
|
|
|
|
NM_004453.4(ETFDH):c.423T>A (p.Pro141=)
|
|
|
|
NM_004453.4(ETFDH):c.426A>C (p.Val142=)
|
|
|
|
NM_004453.4(ETFDH):c.426A>G (p.Val142=)
|
|
|
|
NM_004453.4(ETFDH):c.471T>C (p.Pro157=)
|
|
|
|
NM_004453.4(ETFDH):c.471T>G (p.Pro157=)
|
|
|
|
NM_004453.4(ETFDH):c.477A>G (p.Pro159=)
|
rs2150306341
|
|
|
NM_004453.4(ETFDH):c.477A>T (p.Pro159=)
|
rs2150306341
|
|
|
NM_004453.4(ETFDH):c.487+13G>T
|
|
|
|
NM_004453.4(ETFDH):c.487+14A>T
|
|
|
|
NM_004453.4(ETFDH):c.487+15A>G
|
|
|
|
NM_004453.4(ETFDH):c.487+15A>T
|
|
|
|
NM_004453.4(ETFDH):c.487+20C>A
|
|
|
|
NM_004453.4(ETFDH):c.487+8A>G
|
|
|
|
NM_004453.4(ETFDH):c.487+8A>T
|
rs1773956780
|
|
|
NM_004453.4(ETFDH):c.487+9T>C
|
|
|
|
NM_004453.4(ETFDH):c.488-12A>G
|
rs180889150
|
|
|
NM_004453.4(ETFDH):c.488-17T>A
|
|
|
|
NM_004453.4(ETFDH):c.488-18T>C
|
|
|
|
NM_004453.4(ETFDH):c.488-6T>C
|
|
|
|
NM_004453.4(ETFDH):c.492T>C (p.Leu164=)
|
rs1773968944
|
|
|
NM_004453.4(ETFDH):c.504T>C (p.Asn168=)
|
rs1773969287
|
|
|
NM_004453.4(ETFDH):c.510C>G (p.Gly170=)
|
rs747148665
|
|
|
NM_004453.4(ETFDH):c.51T>C (p.His17=)
|
|
|
|
NM_004453.4(ETFDH):c.534T>C (p.His178=)
|
|
|
|
NM_004453.4(ETFDH):c.540G>C (p.Val180=)
|
|
|
|
NM_004453.4(ETFDH):c.540G>T (p.Val180=)
|
rs1580400148
|
|
|
NM_004453.4(ETFDH):c.543C>T (p.Ser181=)
|
|
|
|
NM_004453.4(ETFDH):c.54C>T (p.Ala18=)
|
|
|
|
NM_004453.4(ETFDH):c.561A>G (p.Ala187=)
|
rs1318375497
|
|
|
NM_004453.4(ETFDH):c.567C>T (p.Ala189=)
|
rs1773972695
|
|
|
NM_004453.4(ETFDH):c.582A>G (p.Val194=)
|
rs2150306629
|
|
|
NM_004453.4(ETFDH):c.585C>T (p.Tyr195=)
|
|
|
|
NM_004453.4(ETFDH):c.603T>G (p.Ala201=)
|
|
|
|
NM_004453.4(ETFDH):c.606+10G>A
|
rs2150306651
|
|
|
NM_004453.4(ETFDH):c.606+10GTTTT[2]
|
rs745580994
|
|
|
NM_004453.4(ETFDH):c.606+13T>C
|
|
|
|
NM_004453.4(ETFDH):c.606+18T>G
|
|
|
|
NM_004453.4(ETFDH):c.607-12T>A
|
|
|
|
NM_004453.4(ETFDH):c.607-12dup
|
rs527944729
|
|
|
NM_004453.4(ETFDH):c.607-15T>A
|
|
|
|
NM_004453.4(ETFDH):c.607-20_607-19del
|
|
|
|
NM_004453.4(ETFDH):c.607-7T>C
|
|
|
|
NM_004453.4(ETFDH):c.607-8_607-7del
|
rs2150308959
|
|
|
NM_004453.4(ETFDH):c.607-9C>A
|
|
|
|
NM_004453.4(ETFDH):c.624T>C (p.Asp208=)
|
|
|
|
NM_004453.4(ETFDH):c.630T>C (p.Ser210=)
|
rs1456188483
|
|
|
NM_004453.4(ETFDH):c.639A>G (p.Gly213=)
|
|
|
|
NM_004453.4(ETFDH):c.657A>G (p.Val219=)
|
|
|
|
NM_004453.4(ETFDH):c.660G>C (p.Gly220=)
|
rs2150309010
|
|
|
NM_004453.4(ETFDH):c.672T>C (p.Asp224=)
|
|
|
|
NM_004453.4(ETFDH):c.675T>C (p.Gly225=)
|
|
|
|
NM_004453.4(ETFDH):c.684+11T>C
|
|
|
|
NM_004453.4(ETFDH):c.684+19T>C
|
|
|
|
NM_004453.4(ETFDH):c.684+3_684+9dup
|
rs773592713
|
|
|
NM_004453.4(ETFDH):c.684+7C>G
|
|
|
|
NM_004453.4(ETFDH):c.685-8C>G
|
|
|
|
NM_004453.4(ETFDH):c.685-9G>C
|
|
|
|
NM_004453.4(ETFDH):c.687A>G (p.Ala229=)
|
|
|
|
NM_004453.4(ETFDH):c.6G>C (p.Leu2=)
|
rs2150300532
|
|
|
NM_004453.4(ETFDH):c.705G>A (p.Leu235=)
|
|
|
|
NM_004453.4(ETFDH):c.709C>T (p.Leu237=)
|
rs2150310947
|
|
|
NM_004453.4(ETFDH):c.714T>C (p.His238=)
|
|
|
|
NM_004453.4(ETFDH):c.726A>G (p.Thr242=)
|
rs2150310952
|
|
|
NM_004453.4(ETFDH):c.750A>T (p.Gly250=)
|
rs2150310974
|
|
|
NM_004453.4(ETFDH):c.774G>A (p.Lys258=)
|
rs1014508077
|
|
|
NM_004453.4(ETFDH):c.783T>C (p.Asp261=)
|
|
|
|
NM_004453.4(ETFDH):c.789A>G (p.Arg263=)
|
|
|
|
NM_004453.4(ETFDH):c.78A>G (p.Leu26=)
|
|
|
|
NM_004453.4(ETFDH):c.807A>G (p.Gln269=)
|
|
|
|
NM_004453.4(ETFDH):c.813C>T (p.Tyr271=)
|
|
|
|
NM_004453.4(ETFDH):c.823C>T (p.Leu275=)
|
|
|
|
NM_004453.4(ETFDH):c.825G>A (p.Leu275=)
|
|
|
|
NM_004453.4(ETFDH):c.831+18T>C
|
|
|
|
NM_004453.4(ETFDH):c.831+19G>A
|
|
|
|
NM_004453.4(ETFDH):c.831+8G>A
|
|
|
|
NM_004453.4(ETFDH):c.832-13T>C
|
|
|
|
NM_004453.4(ETFDH):c.832-16C>T
|
|
|
|
NM_004453.4(ETFDH):c.832-4_832-3insA
|
|
|
|
NM_004453.4(ETFDH):c.834A>G (p.Leu278=)
|
rs761077518
|
|
|
NM_004453.4(ETFDH):c.867G>A (p.Gly289=)
|
rs1774343547
|
|
|
NM_004453.4(ETFDH):c.879C>T (p.His293=)
|
rs1774344228
|
|
|
NM_004453.4(ETFDH):c.888T>C (p.Gly296=)
|
rs1174948040
|
|
|
NM_004453.4(ETFDH):c.897G>A (p.Leu299=)
|
|
|
|
NM_004453.4(ETFDH):c.906T>C (p.His302=)
|
rs2150311696
|
|
|
NM_004453.4(ETFDH):c.909C>T (p.Thr303=)
|
|
|
|
NM_004453.4(ETFDH):c.90T>C (p.Ala30=)
|
|
|
|
NM_004453.4(ETFDH):c.912T>C (p.Tyr304=)
|
rs2150311706
|
|
|
NM_004453.4(ETFDH):c.924C>T (p.Phe308=)
|
rs1261212490
|
|
|
NM_004453.4(ETFDH):c.927C>G (p.Leu309=)
|
|
|
|
NM_004453.4(ETFDH):c.933T>C (p.His311=)
|
rs2150311727
|
|
|
NM_004453.4(ETFDH):c.936G>A (p.Leu312=)
|
|
|
|
NM_004453.4(ETFDH):c.939T>C (p.Asn313=)
|
rs2150311730
|
|
|
NM_004453.4(ETFDH):c.942A>G (p.Glu314=)
|
|
|
|
NM_004453.4(ETFDH):c.951C>G (p.Pro317=)
|
|
|
|
NM_004453.4(ETFDH):c.952C>T (p.Leu318=)
|
rs763002171
|
|
|
NM_004453.4(ETFDH):c.954A>G (p.Leu318=)
|
|
|
|
NM_004453.4(ETFDH):c.966T>C (p.Gly322=)
|
rs2150311745
|
|
|
NM_004453.4(ETFDH):c.972+10A>G
|
rs745409764
|
|
|
NM_004453.4(ETFDH):c.972+11T>A
|
|
|
|
NM_004453.4(ETFDH):c.972+11T>C
|
|
|
|
NM_004453.4(ETFDH):c.972+16A>G
|
|
|
|
NM_004453.4(ETFDH):c.972+16A>T
|
|
|
|
NM_004453.4(ETFDH):c.972+7T>A
|
rs1580414056
|
|
|
NM_004453.4(ETFDH):c.973-13G>A
|
|
|
|
NM_004453.4(ETFDH):c.973-14T>C
|
|
|
|
NM_004453.4(ETFDH):c.973-17_973-16del
|
|
|
|
NM_004453.4(ETFDH):c.973-19A>G
|
|
|
|
NM_004453.4(ETFDH):c.973-9A>T
|
|
|
|
NM_004453.4(ETFDH):c.975T>C (p.Val325=)
|
rs2150312198
|
|
|
NM_004453.4(ETFDH):c.978T>C (p.Gly326=)
|
|
|
|
NM_004453.4(ETFDH):c.981A>G (p.Leu327=)
|
rs2150312206
|
|
|
NM_004453.4(ETFDH):c.996A>G (p.Pro332=)
|
rs566071326
|
|
|
NM_004517.4(ILK):c.1014T>C (p.Ala338=)
|
rs1336585654
|
|
|
NM_004517.4(ILK):c.1074C>T (p.Pro358=)
|
|
|
|
NM_004517.4(ILK):c.111C>A (p.Pro37=)
|
|
|
|
NM_004517.4(ILK):c.111C>T (p.Pro37=)
|
rs1444626441
|
|
|
NM_004517.4(ILK):c.1137A>T (p.Ala379=)
|
|
|
|
NM_004517.4(ILK):c.117C>T (p.His39=)
|
rs903002123
|
|
|
NM_004517.4(ILK):c.1216T>C (p.Leu406=)
|
|
|
|
NM_004517.4(ILK):c.1227T>C (p.Leu409=)
|
rs1855398103
|
|
|
NM_004517.4(ILK):c.1263G>A (p.Val421=)
|
|
|
|
NM_004517.4(ILK):c.1305G>A (p.Lys435=)
|
|
|
|
NM_004517.4(ILK):c.1356G>A (p.Lys452=)
|
|
|
|
NM_004517.4(ILK):c.15C>T (p.Phe5=)
|
|
|
|
NM_004517.4(ILK):c.183T>C (p.Asn61=)
|
rs1420119164
|
|
|
NM_004517.4(ILK):c.207C>T (p.Thr69=)
|
rs751471922
|
|
|
NM_004517.4(ILK):c.261G>A (p.Leu87=)
|
|
|
|
NM_004517.4(ILK):c.354C>T (p.Asp118=)
|
|
|
|
NM_004517.4(ILK):c.387T>C (p.Cys129=)
|
rs1049786548
|
|
|
NM_004517.4(ILK):c.489A>G (p.Pro163=)
|
|
|
|
NM_004517.4(ILK):c.522C>T (p.Arg174=)
|
rs2134559961
|
|
|
NM_004517.4(ILK):c.52C>T (p.Leu18=)
|
|
|
|
NM_004517.4(ILK):c.588G>A (p.Leu196=)
|
rs2134561396
|
|
|
NM_004517.4(ILK):c.63C>T (p.Asp21=)
|
|
|
|
NM_004517.4(ILK):c.690G>A (p.Arg230=)
|
|
|
|
NM_004517.4(ILK):c.69G>C (p.Thr23=)
|
rs780181986
|
|
|
NM_004517.4(ILK):c.708T>C (p.Asn236=)
|
rs766701483
|
|
|
NM_004517.4(ILK):c.714G>A (p.Glu238=)
|
rs1346943702
|
|
|
NM_004517.4(ILK):c.738G>C (p.Ser246=)
|
rs369519432
|
|
|
NM_004517.4(ILK):c.777T>C (p.Ser259=)
|
|
|
|
NM_004517.4(ILK):c.818C>G (p.Pro273Arg)
|
rs774113906
|
|
|
NM_004517.4(ILK):c.819G>C (p.Pro273=)
|
|
|
|
NM_004517.4(ILK):c.837T>C (p.Asn279=)
|
rs1441279272
|
|
|
NM_004517.4(ILK):c.846T>C (p.His282=)
|
|
|
|
NM_004517.4(ILK):c.876C>T (p.Ser292=)
|
|
|
|
NM_004517.4(ILK):c.89+13G>A
|
rs1056145541
|
|
|
NM_004517.4(ILK):c.89+8G>T
|
|
|
|
NM_004517.4(ILK):c.945C>T (p.Ile315=)
|
|
|
|
NM_004517.4(ILK):c.972T>C (p.Ser324=)
|
|
|
|
NM_005159.5(ACTC1):c.1005T>C (p.Pro335=)
|
rs1179163467
|
|
|
NM_005159.5(ACTC1):c.1038C>T (p.Ser346=)
|
rs748062476
|
|
|
NM_005159.5(ACTC1):c.1050T>A (p.Ser350=)
|
rs895745627
|
|
|
NM_005159.5(ACTC1):c.1053G>A (p.Leu351=)
|
rs151321743
|
|
|
NM_005159.5(ACTC1):c.1056C>T (p.Ser352=)
|
rs1595759957
|
|
|
NM_005159.5(ACTC1):c.1095T>C (p.Asp365=)
|
|
|
|
NM_005159.5(ACTC1):c.1107A>G (p.Pro369=)
|
|
|
|
NM_005159.5(ACTC1):c.1119C>T (p.His373=)
|
rs1208061059
|
|
|
NM_005159.5(ACTC1):c.1128C>T (p.Cys376=)
|
rs1891679853
|
|
|
NM_005159.5(ACTC1):c.120G>C (p.Pro40=)
|
rs766934253
|
|
|
NM_005159.5(ACTC1):c.123G>A (p.Arg41=)
|
|
|
|
NM_005159.5(ACTC1):c.129+10C>T
|
|
|
|
NM_005159.5(ACTC1):c.129+11C>T
|
|
|
|
NM_005159.5(ACTC1):c.129+14C>G
|
|
|
|
NM_005159.5(ACTC1):c.129+15G>A
|
|
|
|
NM_005159.5(ACTC1):c.129+17G>T
|
|
|
|
NM_005159.5(ACTC1):c.129+8T>A
|
|
|
|
NM_005159.5(ACTC1):c.130-15T>G
|
rs376417852
|
|
|
NM_005159.5(ACTC1):c.130-18C>A
|
|
|
|
NM_005159.5(ACTC1):c.132A>C (p.Gly44=)
|
|
|
|
NM_005159.5(ACTC1):c.150T>C (p.Gly50=)
|
|
|
|
NM_005159.5(ACTC1):c.177A>G (p.Glu59=)
|
rs755858258
|
|
|
NM_005159.5(ACTC1):c.195C>T (p.Gly65=)
|
|
|
|
NM_005159.5(ACTC1):c.201G>C (p.Leu67=)
|
|
|
|
NM_005159.5(ACTC1):c.204C>T (p.Thr68=)
|
rs1891751214
|
|
|
NM_005159.5(ACTC1):c.207G>C (p.Leu69=)
|
|
|
|
NM_005159.5(ACTC1):c.213T>C (p.Tyr71=)
|
|
|
|
NM_005159.5(ACTC1):c.234C>T (p.Ile78=)
|
rs1393400015
|
|
|
NM_005159.5(ACTC1):c.24C>T (p.Thr8=)
|
|
|
|
NM_005159.5(ACTC1):c.267C>T (p.His89=)
|
|
|
|
NM_005159.5(ACTC1):c.27C>T (p.Ala9=)
|
rs1595762043
|
|
|
NM_005159.5(ACTC1):c.285G>A (p.Glu95=)
|
rs1211913373
|
|
|
NM_005159.5(ACTC1):c.294G>T (p.Val98=)
|
rs397517058
|
|
|
NM_005159.5(ACTC1):c.300C>G (p.Pro100=)
|
|
|
|
NM_005159.5(ACTC1):c.30G>A (p.Leu10=)
|
|
|
|
NM_005159.5(ACTC1):c.30G>C (p.Leu10=)
|
|
|
|
NM_005159.5(ACTC1):c.312C>G (p.Pro104=)
|
|
|
|
NM_005159.5(ACTC1):c.324A>T (p.Thr108=)
|
|
|
|
NM_005159.5(ACTC1):c.342C>T (p.Pro114=)
|
rs878854754
|
|
|
NM_005159.5(ACTC1):c.384C>T (p.Thr128=)
|
|
|
|
NM_005159.5(ACTC1):c.408G>C (p.Val136=)
|
|
|
|
NM_005159.5(ACTC1):c.42C>T (p.Asn14=)
|
rs1257278537
|
|
|
NM_005159.5(ACTC1):c.438T>C (p.Ala146=)
|
|
|
|
NM_005159.5(ACTC1):c.454+13C>A
|
|
|
|
NM_005159.5(ACTC1):c.454+18G>A
|
|
|
|
NM_005159.5(ACTC1):c.455-10C>T
|
|
|
|
NM_005159.5(ACTC1):c.455-12T>C
|
|
|
|
NM_005159.5(ACTC1):c.455-18G>C
|
rs925035661
|
|
|
NM_005159.5(ACTC1):c.455-4del
|
rs1178667520
|
|
|
NM_005159.5(ACTC1):c.459T>C (p.Ile153=)
|
rs2140431034
|
|
|
NM_005159.5(ACTC1):c.45C>T (p.Gly15=)
|
|
|
|
NM_005159.5(ACTC1):c.471T>C (p.Ser157=)
|
rs2140431029
|
|
|
NM_005159.5(ACTC1):c.489C>T (p.His163=)
|
|
|
|
NM_005159.5(ACTC1):c.501C>T (p.Ile167=)
|
rs1306504752
|
|
|
NM_005159.5(ACTC1):c.504T>C (p.Tyr168=)
|
rs2140430970
|
|
|
NM_005159.5(ACTC1):c.516T>C (p.Ala172=)
|
rs397517064
|
|
|
NM_005159.5(ACTC1):c.522C>T (p.Pro174=)
|
|
|
|
NM_005159.5(ACTC1):c.525T>C (p.His175=)
|
rs2140430937
|
|
|
NM_005159.5(ACTC1):c.537T>A (p.Arg179=)
|
rs750131288
|
|
|
NM_005159.5(ACTC1):c.555G>A (p.Arg185=)
|
|
|
|
NM_005159.5(ACTC1):c.570C>T (p.Tyr190=)
|
rs1595760934
|
|
|
NM_005159.5(ACTC1):c.579G>A (p.Lys193=)
|
|
|
|
NM_005159.5(ACTC1):c.597C>A (p.Gly199=)
|
rs1595760921
|
|
|
NM_005159.5(ACTC1):c.616+10T>C
|
|
|
|
NM_005159.5(ACTC1):c.616+5GT[4]
|
rs749539033
|
|
|
NM_005159.5(ACTC1):c.616+5GT[6]
|
|
|
|
NM_005159.5(ACTC1):c.616+7G>A
|
|
|
|
NM_005159.5(ACTC1):c.616+7G>T
|
|
|
|
NM_005159.5(ACTC1):c.617-11T>C
|
rs1891721032
|
|
|
NM_005159.5(ACTC1):c.636T>C (p.Arg212=)
|
rs1595760838
|
|
|
NM_005159.5(ACTC1):c.648G>A (p.Glu216=)
|
|
|
|
NM_005159.5(ACTC1):c.66C>T (p.Gly22=)
|
rs1060504729
|
|
|
NM_005159.5(ACTC1):c.699C>T (p.Ala233=)
|
rs1595760786
|
|
|
NM_005159.5(ACTC1):c.705C>T (p.Ser235=)
|
rs2140430606
|
|
|
NM_005159.5(ACTC1):c.712C>T (p.Leu238=)
|
rs1891718902
|
|
|
NM_005159.5(ACTC1):c.72G>A (p.Ala24=)
|
|
|
|
NM_005159.5(ACTC1):c.72G>C (p.Ala24=)
|
rs778572289
|
|
|
NM_005159.5(ACTC1):c.741C>A (p.Gly247=)
|
rs1595760747
|
|
|
NM_005159.5(ACTC1):c.744A>G (p.Gln248=)
|
|
|
|
NM_005159.5(ACTC1):c.753T>G (p.Thr251=)
|
rs1595760737
|
|
|
NM_005159.5(ACTC1):c.75C>A (p.Gly25=)
|
|
|
|
NM_005159.5(ACTC1):c.75C>T (p.Gly25=)
|
rs144819872
|
|
|
NM_005159.5(ACTC1):c.768C>T (p.Arg256=)
|
|
|
|
NM_005159.5(ACTC1):c.789C>T (p.Leu263=)
|
|
|
|
NM_005159.5(ACTC1):c.798C>G (p.Pro266=)
|
rs397517068
|
|
|
NM_005159.5(ACTC1):c.798C>T (p.Pro266=)
|
rs397517068
|
|
|
NM_005159.5(ACTC1):c.808+18G>A
|
|
|
|
NM_005159.5(ACTC1):c.808+20G>A
|
|
|
|
NM_005159.5(ACTC1):c.808+8G>T
|
|
|
|
NM_005159.5(ACTC1):c.808+9T>C
|
|
|
|
NM_005159.5(ACTC1):c.809-12A>G
|
rs587780846
|
|
|
NM_005159.5(ACTC1):c.809-12A>T
|
rs587780846
|
|
|
NM_005159.5(ACTC1):c.809-12_809-11insGT
|
rs774238821
|
|
|
NM_005159.5(ACTC1):c.809-12_809-11insGTGG
|
rs774238821
|
|
|
NM_005159.5(ACTC1):c.809-18_809-17insTGTGTA
|
rs1447068308
|
|
|
NM_005159.5(ACTC1):c.809-20_809-19insTGTA
|
rs1194538397
|
|
|
NM_005159.5(ACTC1):c.809-58TG[12]
|
rs59431308
|
|
|
NM_005159.5(ACTC1):c.809-58TG[13]
|
rs59431308
|
|
|
NM_005159.5(ACTC1):c.809-58TG[14]
|
rs59431308
|
|
|
NM_005159.5(ACTC1):c.809-58TG[15]
|
rs59431308
|
|
|
NM_005159.5(ACTC1):c.809-58TG[16]
|
rs59431308
|
|
|
NM_005159.5(ACTC1):c.809-58TG[17]
|
rs59431308
|
|
|
NM_005159.5(ACTC1):c.809-58TG[18]
|
rs59431308
|
|
|
NM_005159.5(ACTC1):c.809-58TG[19]
|
rs59431308
|
|
|
NM_005159.5(ACTC1):c.809-58TG[20]
|
rs59431308
|
|
|
NM_005159.5(ACTC1):c.809-58TG[21]
|
rs59431308
|
|
|
NM_005159.5(ACTC1):c.809-58TG[22]
|
rs59431308
|
|
|
NM_005159.5(ACTC1):c.809-58TG[24]
|
rs59431308
|
|
|
NM_005159.5(ACTC1):c.809-58TG[25]
|
rs59431308
|
|
|
NM_005159.5(ACTC1):c.809-58TG[26]
|
rs59431308
|
|
|
NM_005159.5(ACTC1):c.809-58TG[27]
|
rs59431308
|
|
|
NM_005159.5(ACTC1):c.809-58TG[28]
|
rs59431308
|
|
|
NM_005159.5(ACTC1):c.809-58TG[29]
|
rs59431308
|
|
|
NM_005159.5(ACTC1):c.809-58TG[30]
|
rs59431308
|
|
|
NM_005159.5(ACTC1):c.809-58TG[32]
|
|
|
|
NM_005159.5(ACTC1):c.809-8G>T
|
rs767180775
|
|
|
NM_005159.5(ACTC1):c.852C>T (p.Ile284=)
|
|
|
|
NM_005159.5(ACTC1):c.861T>C (p.Cys287=)
|
|
|
|
NM_005159.5(ACTC1):c.885G>C (p.Leu295=)
|
rs2140429649
|
|
|
NM_005159.5(ACTC1):c.906T>C (p.Ser302=)
|
rs2140429615
|
|
|
NM_005159.5(ACTC1):c.90C>A (p.Arg30=)
|
|
|
|
NM_005159.5(ACTC1):c.90C>T (p.Arg30=)
|
rs1555419004
|
|
|
NM_005159.5(ACTC1):c.915C>T (p.Thr305=)
|
rs1049511214
|
|
|
NM_005159.5(ACTC1):c.93T>A (p.Ala31=)
|
|
|
|
NM_005159.5(ACTC1):c.969T>C (p.Ala323=)
|
|
|
|
NM_005159.5(ACTC1):c.975C>T (p.Ser325=)
|
rs939520463
|
|
|
NM_005159.5(ACTC1):c.990+15T>C
|
|
|
|
NM_005159.5(ACTC1):c.991-10C>T
|
rs1298992263
|
|
|
NM_005159.5(ACTC1):c.991-10_991-8del
|
|
|
|
NM_005159.5(ACTC1):c.991-18T>G
|
rs1891683495
|
|
|
NM_005159.5(ACTC1):c.991-8T>A
|
|
|
|
NM_005159.5(ACTC1):c.993T>C (p.Ile331=)
|
|
|
|
NM_005159.5(ACTC1):c.999T>C (p.Ala333=)
|
rs1891683050
|
|
|
NM_005159.5(ACTC1):c.9C>T (p.Asp3=)
|
rs535623090
|
|
|
NM_005343.4(HRAS):c.102C>G (p.Pro34=)
|
rs149199691
|
|
|
NM_005343.4(HRAS):c.105T>C (p.Thr35=)
|
|
|
|
NM_005343.4(HRAS):c.111+10G>A
|
rs1401412098
|
|
|
NM_005343.4(HRAS):c.111+12G>A
|
|
|
|
NM_005343.4(HRAS):c.111+15G>C
|
|
|
|
NM_005343.4(HRAS):c.111+7C>T
|
rs374130868
|
|
|
NM_005343.4(HRAS):c.111+8T>C
|
rs2133994019
|
|
|
NM_005343.4(HRAS):c.112-12G>A
|
rs1851288777
|
|
|
NM_005343.4(HRAS):c.112-13T>C
|
rs766582484
|
|
|
NM_005343.4(HRAS):c.112-14C>G
|
|
|
|
NM_005343.4(HRAS):c.112-14C>T
|
rs753906417
|
|
|
NM_005343.4(HRAS):c.112-17G>T
|
|
|
|
NM_005343.4(HRAS):c.112-18A>T
|
|
|
|
NM_005343.4(HRAS):c.112-19G>C
|
rs755577443
|
|
|
NM_005343.4(HRAS):c.112-20dup
|
rs2133992078
|
|
|
NM_005343.4(HRAS):c.112-4G>A
|
rs1589792986
|
|
|
NM_005343.4(HRAS):c.112-6C>T
|
rs2133991944
|
|
|
NM_005343.4(HRAS):c.112-7C>T
|
rs756348934
|
|
|
NM_005343.4(HRAS):c.112-7_112-5del
|
rs1347169680
|
|
|
NM_005343.4(HRAS):c.123G>C (p.Arg41=)
|
rs762706292
|
|
|
NM_005343.4(HRAS):c.12T>C (p.Tyr4=)
|
rs2133995153
|
|
|
NM_005343.4(HRAS):c.135C>T (p.Val45=)
|
|
|
|
NM_005343.4(HRAS):c.138T>C (p.Ile46=)
|
rs1851286467
|
|
|
NM_005343.4(HRAS):c.144G>A (p.Gly48=)
|
rs1589792926
|
|
|
NM_005343.4(HRAS):c.147G>A (p.Glu49=)
|
rs2133991462
|
|
|
NM_005343.4(HRAS):c.150G>C (p.Thr50=)
|
|
|
|
NM_005343.4(HRAS):c.150G>T (p.Thr50=)
|
rs1057520421
|
|
|
NM_005343.4(HRAS):c.156G>A (p.Leu52=)
|
rs1060504681
|
|
|
NM_005343.4(HRAS):c.156G>T (p.Leu52=)
|
rs1060504681
|
|
|
NM_005343.4(HRAS):c.157T>C (p.Leu53=)
|
|
|
|
NM_005343.4(HRAS):c.159G>A (p.Leu53=)
|
rs1205035369
|
|
|
NM_005343.4(HRAS):c.162C>T (p.Asp54=)
|
rs1057520410
|
|
|
NM_005343.4(HRAS):c.165C>T (p.Ile55=)
|
rs1261188136
|
|
|
NM_005343.4(HRAS):c.166C>T (p.Leu56=)
|
rs2133991227
|
|
|
NM_005343.4(HRAS):c.16C>T (p.Leu6=)
|
rs763376142
|
|
|
NM_005343.4(HRAS):c.177C>G (p.Ala59=)
|
rs730880456
|
|
|
NM_005343.4(HRAS):c.183G>A (p.Gln61=)
|
|
|
|
NM_005343.4(HRAS):c.189G>A (p.Glu63=)
|
|
|
|
NM_005343.4(HRAS):c.192C>T (p.Tyr64=)
|
rs2133990881
|
|
|
NM_005343.4(HRAS):c.195C>T (p.Ser65=)
|
rs898057728
|
|
|
NM_005343.4(HRAS):c.21G>C (p.Val7=)
|
|
|
|
NM_005343.4(HRAS):c.222C>G (p.Thr74=)
|
rs372223975
|
|
|
NM_005343.4(HRAS):c.225G>C (p.Gly75=)
|
|
|
|
NM_005343.4(HRAS):c.234C>T (p.Phe78=)
|
rs1057522882
|
|
|
NM_005343.4(HRAS):c.237G>A (p.Leu79=)
|
rs767586105
|
|
|
NM_005343.4(HRAS):c.237G>T (p.Leu79=)
|
rs767586105
|
|
|
NM_005343.4(HRAS):c.243G>A (p.Val81=)
|
|
|
|
NM_005343.4(HRAS):c.249C>G (p.Ala83=)
|
rs111372582
|
|
|
NM_005343.4(HRAS):c.255C>T (p.Asn85=)
|
rs759463996
|
|
|
NM_005343.4(HRAS):c.261C>T (p.Thr87=)
|
rs1851272766
|
|
|
NM_005343.4(HRAS):c.273G>A (p.Glu91=)
|
rs1851272074
|
|
|
NM_005343.4(HRAS):c.279C>T (p.Ile93=)
|
rs2133989886
|
|
|
NM_005343.4(HRAS):c.284A>G (p.Gln95Arg)
|
rs2133989835
|
|
|
NM_005343.4(HRAS):c.290+10G>A
|
rs769212136
|
|
|
NM_005343.4(HRAS):c.290+10G>C
|
rs769212136
|
|
|
NM_005343.4(HRAS):c.290+11T>C
|
|
|
|
NM_005343.4(HRAS):c.290+15G>A
|
|
|
|
NM_005343.4(HRAS):c.290+15G>C
|
|
|
|
NM_005343.4(HRAS):c.290+16C>T
|
|
|
|
NM_005343.4(HRAS):c.290+19G>C
|
|
|
|
NM_005343.4(HRAS):c.290+19G>T
|
|
|
|
NM_005343.4(HRAS):c.290+7C>G
|
|
|
|
NM_005343.4(HRAS):c.290+7C>T
|
|
|
|
NM_005343.4(HRAS):c.290+9C>T
|
rs747854581
|
|
|
NM_005343.4(HRAS):c.291-10C>T
|
rs1397119284
|
|
|
NM_005343.4(HRAS):c.291-11C>T
|
|
|
|
NM_005343.4(HRAS):c.291-15C>A
|
rs1404106769
|
|
|
NM_005343.4(HRAS):c.291-15C>T
|
rs1404106769
|
|
|
NM_005343.4(HRAS):c.291-16G>C
|
rs779917193
|
|
|
NM_005343.4(HRAS):c.291-17C>G
|
rs753558541
|
|
|
NM_005343.4(HRAS):c.291-18T>C
|
rs758646567
|
|
|
NM_005343.4(HRAS):c.291-4_291-3del
|
rs1589791952
|
|
|
NM_005343.4(HRAS):c.291-5C>G
|
|
|
|
NM_005343.4(HRAS):c.291-6T>G
|
rs766909143
|
|
|
NM_005343.4(HRAS):c.291-9A>G
|
rs1564789180
|
|
|
NM_005343.4(HRAS):c.291G>A (p.Arg97=)
|
|
|
|
NM_005343.4(HRAS):c.297G>A (p.Gln99=)
|
rs199656012
|
|
|
NM_005343.4(HRAS):c.300C>T (p.Ile100=)
|
rs2133987967
|
|
|
NM_005343.4(HRAS):c.304C>A (p.Arg102=)
|
rs1057517913
|
|
|
NM_005343.4(HRAS):c.306G>A (p.Arg102=)
|
|
|
|
NM_005343.4(HRAS):c.312G>A (p.Lys104=)
|
rs1060504682
|
|
|
NM_005343.4(HRAS):c.315C>T (p.Asp105=)
|
rs1229925274
|
|
|
NM_005343.4(HRAS):c.330C>A (p.Pro110=)
|
|
|
|
NM_005343.4(HRAS):c.339G>A (p.Leu113=)
|
rs878854759
|
|
|
NM_005343.4(HRAS):c.342G>A (p.Val114=)
|
|
|
|
NM_005343.4(HRAS):c.342G>C (p.Val114=)
|
rs2133987502
|
|
|
NM_005343.4(HRAS):c.345G>A (p.Gly115=)
|
rs2133987449
|
|
|
NM_005343.4(HRAS):c.351G>A (p.Lys117=)
|
|
|
|
NM_005343.4(HRAS):c.366A>G (p.Ala122=)
|
rs755980627
|
|
|
NM_005343.4(HRAS):c.375G>A (p.Val125=)
|
rs1851243465
|
|
|
NM_005343.4(HRAS):c.375G>C (p.Val125=)
|
rs1851243465
|
|
|
NM_005343.4(HRAS):c.386A>G (p.Gln129Arg)
|
rs1851242529
|
|
|
NM_005343.4(HRAS):c.390T>G (p.Ala130=)
|
rs2133986915
|
|
|
NM_005343.4(HRAS):c.393G>A (p.Gln131=)
|
rs2133986872
|
|
|
NM_005343.4(HRAS):c.396C>T (p.Asp132=)
|
rs975107534
|
|
|
NM_005343.4(HRAS):c.399C>T (p.Leu133=)
|
rs761180869
|
|
|
NM_005343.4(HRAS):c.402C>G (p.Ala134=)
|
rs773270401
|
|
|
NM_005343.4(HRAS):c.402C>T (p.Ala134=)
|
|
|
|
NM_005343.4(HRAS):c.408C>T (p.Ser136=)
|
rs2133986691
|
|
|
NM_005343.4(HRAS):c.414C>A (p.Gly138=)
|
rs2133986610
|
|
|
NM_005343.4(HRAS):c.417C>T (p.Ile139=)
|
rs2133986571
|
|
|
NM_005343.4(HRAS):c.418C>T (p.Pro140Ser)
|
rs144001095
|
|
|
NM_005343.4(HRAS):c.420C>T (p.Pro140=)
|
rs2133986528
|
|
|
NM_005343.4(HRAS):c.423C>T (p.Tyr141=)
|
rs1589791513
|
|
|
NM_005343.4(HRAS):c.429G>A (p.Glu143=)
|
|
|
|
NM_005343.4(HRAS):c.435G>C (p.Ser145=)
|
rs747008553
|
|
|
NM_005343.4(HRAS):c.438C>A (p.Ala146=)
|
rs1851236604
|
|
|
NM_005343.4(HRAS):c.438C>T (p.Ala146=)
|
|
|
|
NM_005343.4(HRAS):c.447G>A (p.Arg149=)
|
rs2133986135
|
|
|
NM_005343.4(HRAS):c.450+13T>C
|
rs752168787
|
|
|
NM_005343.4(HRAS):c.450+14C>T
|
|
|
|
NM_005343.4(HRAS):c.450+18C>A
|
|
|
|
NM_005343.4(HRAS):c.450+19C>T
|
|
|
|
NM_005343.4(HRAS):c.450+20C>A
|
rs201524241
|
|
|
NM_005343.4(HRAS):c.450+20C>G
|
rs201524241
|
|
|
NM_005343.4(HRAS):c.450+20C>T
|
|
|
|
NM_005343.4(HRAS):c.450+7C>T
|
|
|
|
NM_005343.4(HRAS):c.450+9G>A
|
|
|
|
NM_005343.4(HRAS):c.451-10C>T
|
rs1589789759
|
|
|
NM_005343.4(HRAS):c.451-12C>T
|
rs1204923566
|
|
|
NM_005343.4(HRAS):c.451-13C>A
|
rs761468352
|
|
|
NM_005343.4(HRAS):c.451-14C>A
|
|
|
|
NM_005343.4(HRAS):c.451-15T>C
|
rs1644141623
|
|
|
NM_005343.4(HRAS):c.451-16A>G
|
|
|
|
NM_005343.4(HRAS):c.451-17C>T
|
rs754150592
|
|
|
NM_005343.4(HRAS):c.451-19C>T
|
|
|
|
NM_005343.4(HRAS):c.451-20T>G
|
|
|
|
NM_005343.4(HRAS):c.451-22_451-8dup
|
rs1159599721
|
|
|
NM_005343.4(HRAS):c.451-4C>G
|
|
|
|
NM_005343.4(HRAS):c.451-4C>T
|
rs1589789708
|
|
|
NM_005343.4(HRAS):c.451-5C>G
|
rs370181298
|
|
|
NM_005343.4(HRAS):c.451-5C>T
|
rs370181298
|
|
|
NM_005343.4(HRAS):c.451-6T>C
|
rs1480423930
|
|
|
NM_005343.4(HRAS):c.451-9C>T
|
rs763872424
|
|
|
NM_005343.4(HRAS):c.459G>A (p.Glu153=)
|
rs2133982634
|
|
|
NM_005343.4(HRAS):c.45C>G (p.Gly15=)
|
|
|
|
NM_005343.4(HRAS):c.460G>T (p.Asp154Tyr)
|
|
|
|
NM_005343.4(HRAS):c.474G>C (p.Thr158=)
|
|
|
|
NM_005343.4(HRAS):c.480G>C (p.Val160=)
|
rs2133982437
|
|
|
NM_005343.4(HRAS):c.483T>C (p.Arg161=)
|
rs2133982410
|
|
|
NM_005343.4(HRAS):c.489C>A (p.Ile163=)
|
rs2133982379
|
|
|
NM_005343.4(HRAS):c.495G>A (p.Gln165=)
|
rs2133982327
|
|
|
NM_005343.4(HRAS):c.518C>G (p.Pro173Arg)
|
|
|
|
NM_005343.4(HRAS):c.522T>C (p.Pro174=)
|
|
|
|
NM_005343.4(HRAS):c.531T>C (p.Ser177=)
|
|
|
|
NM_005343.4(HRAS):c.534C>T (p.Gly178=)
|
|
|
|
NM_005343.4(HRAS):c.535C>G (p.Pro179Ala)
|
rs1201430199
|
|
|
NM_005343.4(HRAS):c.540C>A (p.Gly180=)
|
|
|
|
NM_005343.4(HRAS):c.540C>T (p.Gly180=)
|
rs976055009
|
|
|
NM_005343.4(HRAS):c.54G>C (p.Ala18=)
|
rs148380285
|
|
|
NM_005343.4(HRAS):c.555G>A (p.Lys185=)
|
rs1230514063
|
|
|
NM_005343.4(HRAS):c.55C>T (p.Leu19=)
|
rs2133994674
|
|
|
NM_005343.4(HRAS):c.564C>G (p.Leu188=)
|
rs2133981970
|
|
|
NM_005343.4(HRAS):c.567C>G (p.Ser189=)
|
rs1324657141
|
|
|
NM_005343.4(HRAS):c.567C>T (p.Ser189=)
|
|
|
|
NM_005343.4(HRAS):c.60C>T (p.Thr20=)
|
rs774042283
|
|
|
NM_005343.4(HRAS):c.67C>T (p.Leu23=)
|
|
|
|
NM_005343.4(HRAS):c.69G>A (p.Leu23=)
|
rs1589793671
|
|
|
NM_005343.4(HRAS):c.96C>T (p.Tyr32=)
|
rs369039481
|
|
|
NM_005343.4(HRAS):c.99C>T (p.Asp33=)
|
rs756934316
|
|
|
NM_005921.2(MAP3K1):c.1599G>A (p.Arg533=)
|
|
|
|
NM_005921.2(MAP3K1):c.1782C>G (p.Ala594=)
|
|
|
|
NM_005921.2(MAP3K1):c.1801G>A (p.Glu601Lys)
|
|
|
|
NM_005921.2(MAP3K1):c.1846G>A (p.Gly616Arg)
|
rs143853590
|
|
|
NM_005921.2(MAP3K1):c.1926C>A (p.Val642=)
|
rs867527029
|
|
|
NM_005921.2(MAP3K1):c.2012C>T (p.Ala671Val)
|
|
|
|
NM_005921.2(MAP3K1):c.201T>C (p.Ser67=)
|
|
|
|
NM_005921.2(MAP3K1):c.2133A>G (p.Lys711=)
|
|
|
|
NM_005921.2(MAP3K1):c.2370-17A>G
|
|
|
|
NM_005921.2(MAP3K1):c.261C>G (p.Ser87=)
|
|
|
|
NM_005921.2(MAP3K1):c.2696A>G (p.Asn899Ser)
|
rs142968004
|
|
|
NM_005921.2(MAP3K1):c.2824ACA[4] (p.Thr946_Thr949del)
|
rs5868032
|
|
|
NM_005921.2(MAP3K1):c.2824ACA[9] (p.Thr949_Glu950insThr)
|
|
|
|
NM_005921.2(MAP3K1):c.3198C>G (p.Thr1066=)
|
rs918712593
|
|
|
NM_005921.2(MAP3K1):c.347C>T (p.Ala116Val)
|
|
|
|
NM_005921.2(MAP3K1):c.3609C>T (p.Pro1203=)
|
rs1554035881
|
|
|
NM_005921.2(MAP3K1):c.3667-4G>A
|
rs552563402
|
|
|
NM_005921.2(MAP3K1):c.3774T>C (p.Tyr1258=)
|
|
|
|
NM_005921.2(MAP3K1):c.3819+9C>G
|
|
|
|
NM_005921.2(MAP3K1):c.3846T>G (p.Ser1282=)
|
rs375842337
|
|
|
NM_005921.2(MAP3K1):c.4092A>G (p.Gln1364=)
|
|
|
|
NM_005921.2(MAP3K1):c.4114+10C>G
|
|
|
|
NM_005921.2(MAP3K1):c.429C>T (p.Pro143=)
|
rs1211934332
|
|
|
NM_005921.2(MAP3K1):c.786G>T (p.Val262=)
|
|
|
|
NM_005921.2(MAP3K1):c.89C>A (p.Ala30Asp)
|
rs971549264
|
|
|
NM_005921.2(MAP3K1):c.916C>T (p.Arg306Cys)
|
|
|
|
NM_005921.2(MAP3K1):c.959A>G (p.Gln320Arg)
|
|
|
|
NM_006073.4(TRDN):c.1002T>C (p.Asp334=)
|
rs2114593337
|
|
|
NM_006073.4(TRDN):c.1051+10_1051+11insTGTT
|
|
|
|
NM_006073.4(TRDN):c.1051+13_1051+16del
|
rs779871731
|
|
|
NM_006073.4(TRDN):c.1051+14T>G
|
rs2114593071
|
|
|
NM_006073.4(TRDN):c.1051+18T>C
|
|
|
|
NM_006073.4(TRDN):c.1051+20T>C
|
rs1436980557
|
|
|
NM_006073.4(TRDN):c.1051+7C>T
|
|
|
|
NM_006073.4(TRDN):c.1051+8A>T
|
|
|
|
NM_006073.4(TRDN):c.1051+9C>T
|
|
|
|
NM_006073.4(TRDN):c.1052-15T>C
|
|
|
|
NM_006073.4(TRDN):c.1052-16T>A
|
rs2114461669
|
|
|
NM_006073.4(TRDN):c.1052-18T>A
|
|
|
|
NM_006073.4(TRDN):c.1052-18T>C
|
|
|
|
NM_006073.4(TRDN):c.1052-19_1052-18del
|
rs2114461686
|
|
|
NM_006073.4(TRDN):c.1056G>A (p.Pro352=)
|
|
|
|
NM_006073.4(TRDN):c.1056G>T (p.Pro352=)
|
rs558713666
|
|
|
NM_006073.4(TRDN):c.1106-19G>A
|
rs754623877
|
|
|
NM_006073.4(TRDN):c.1106-19G>T
|
rs754623877
|
|
|
NM_006073.4(TRDN):c.1106-20C>T
|
|
|
|
NM_006073.4(TRDN):c.1106-5T>C
|
|
|
|
NM_006073.4(TRDN):c.1131G>A (p.Lys377=)
|
rs1370845470
|
|
|
NM_006073.4(TRDN):c.1186+12C>T
|
|
|
|
NM_006073.4(TRDN):c.1186+13A>G
|
|
|
|
NM_006073.4(TRDN):c.1187-13T>C
|
|
|
|
NM_006073.4(TRDN):c.1187-15A>G
|
|
|
|
NM_006073.4(TRDN):c.1187-19C>G
|
|
|
|
NM_006073.4(TRDN):c.1209T>C (p.His403=)
|
|
|
|
NM_006073.4(TRDN):c.1219+7_1219+8del
|
rs2114402886
|
|
|
NM_006073.4(TRDN):c.1220-12T>C
|
|
|
|
NM_006073.4(TRDN):c.1220-17T>C
|
|
|
|
NM_006073.4(TRDN):c.1233G>A (p.Lys411=)
|
|
|
|
NM_006073.4(TRDN):c.123G>A (p.Val41=)
|
rs546801443
|
|
|
NM_006073.4(TRDN):c.1246+10A>G
|
rs377411184
|
|
|
NM_006073.4(TRDN):c.1246+15T>C
|
|
|
|
NM_006073.4(TRDN):c.1247-19T>G
|
|
|
|
NM_006073.4(TRDN):c.1247-20T>C
|
|
|
|
NM_006073.4(TRDN):c.1247-8A>G
|
|
|
|
NM_006073.4(TRDN):c.1248T>C (p.Val416=)
|
|
|
|
NM_006073.4(TRDN):c.126G>T (p.Thr42=)
|
rs774324909
|
|
|
NM_006073.4(TRDN):c.1273+16T>G
|
|
|
|
NM_006073.4(TRDN):c.1273+7T>G
|
rs1324451489
|
|
|
NM_006073.4(TRDN):c.1273+8G>T
|
rs1781473593
|
|
|
NM_006073.4(TRDN):c.1278T>C (p.Thr426=)
|
|
|
|
NM_006073.4(TRDN):c.1321+10G>T
|
|
|
|
NM_006073.4(TRDN):c.1321+11C>A
|
|
|
|
NM_006073.4(TRDN):c.1321+11C>G
|
rs920771213
|
|
|
NM_006073.4(TRDN):c.1321+17G>A
|
|
|
|
NM_006073.4(TRDN):c.1321+17G>T
|
|
|
|
NM_006073.4(TRDN):c.1321+9A>G
|
|
|
|
NM_006073.4(TRDN):c.1322-21_1322-20del
|
rs753927173
|
|
|
NM_006073.4(TRDN):c.1322-9_1322-6dup
|
|
|
|
NM_006073.4(TRDN):c.1329T>C (p.Pro443=)
|
rs2114299916
|
|
|
NM_006073.4(TRDN):c.1362G>A (p.Val454=)
|
|
|
|
NM_006073.4(TRDN):c.1365G>A (p.Glu455=)
|
rs1452206168
|
|
|
NM_006073.4(TRDN):c.1369+11A>G
|
|
|
|
NM_006073.4(TRDN):c.1369+15A>G
|
|
|
|
NM_006073.4(TRDN):c.1370-19C>T
|
|
|
|
NM_006073.4(TRDN):c.1370-20_1370-8del
|
|
|
|
NM_006073.4(TRDN):c.138C>T (p.Ser46=)
|
|
|
|
NM_006073.4(TRDN):c.1395G>A (p.Lys465=)
|
|
|
|
NM_006073.4(TRDN):c.1410G>A (p.Leu470=)
|
rs768291815
|
|
|
NM_006073.4(TRDN):c.1410G>T (p.Leu470=)
|
rs768291815
|
|
|
NM_006073.4(TRDN):c.1416T>C (p.Asp472=)
|
rs1464407707
|
|
|
NM_006073.4(TRDN):c.1420+17A>G
|
|
|
|
NM_006073.4(TRDN):c.1420+17A>T
|
|
|
|
NM_006073.4(TRDN):c.1420+18A>C
|
|
|
|
NM_006073.4(TRDN):c.1420+18A>G
|
|
|
|
NM_006073.4(TRDN):c.1420+8_1420+9del
|
rs1254777827
|
|
|
NM_006073.4(TRDN):c.1421-14A>G
|
|
|
|
NM_006073.4(TRDN):c.1421-16C>T
|
|
|
|
NM_006073.4(TRDN):c.1421-19G>C
|
|
|
|
NM_006073.4(TRDN):c.1431A>G (p.Lys477=)
|
|
|
|
NM_006073.4(TRDN):c.1458C>G (p.Ser486=)
|
rs1365899783
|
|
|
NM_006073.4(TRDN):c.1471+10T>A
|
rs1408593994
|
|
|
NM_006073.4(TRDN):c.1471+10T>C
|
|
|
|
NM_006073.4(TRDN):c.1471+14A>G
|
|
|
|
NM_006073.4(TRDN):c.1471+15T>C
|
|
|
|
NM_006073.4(TRDN):c.1471+8_1471+10del
|
|
|
|
NM_006073.4(TRDN):c.1472-4C>T
|
|
|
|
NM_006073.4(TRDN):c.1472-5C>T
|
rs2114699560
|
|
|
NM_006073.4(TRDN):c.147C>A (p.Ala49=)
|
rs1554258804
|
|
|
NM_006073.4(TRDN):c.1503C>T (p.Ser501=)
|
|
|
|
NM_006073.4(TRDN):c.1510+14G>A
|
|
|
|
NM_006073.4(TRDN):c.1511-11C>T
|
|
|
|
NM_006073.4(TRDN):c.1511-20A>G
|
|
|
|
NM_006073.4(TRDN):c.1511-20A>T
|
rs773044428
|
|
|
NM_006073.4(TRDN):c.1511-9T>C
|
|
|
|
NM_006073.4(TRDN):c.1512C>T (p.Gly504=)
|
|
|
|
NM_006073.4(TRDN):c.1537+16G>A
|
|
|
|
NM_006073.4(TRDN):c.1537+17C>A
|
|
|
|
NM_006073.4(TRDN):c.1537+18T>A
|
|
|
|
NM_006073.4(TRDN):c.1537+18_1537+19insTAAA
|
|
|
|
NM_006073.4(TRDN):c.1538-12C>G
|
|
|
|
NM_006073.4(TRDN):c.1538-17T>C
|
|
|
|
NM_006073.4(TRDN):c.1538-19T>C
|
rs142237914
|
|
|
NM_006073.4(TRDN):c.1560G>A (p.Glu520=)
|
|
|
|
NM_006073.4(TRDN):c.1567+10T>A
|
rs2114626071
|
|
|
NM_006073.4(TRDN):c.1567+16T>G
|
|
|
|
NM_006073.4(TRDN):c.1567+19_1567+20del
|
|
|
|
NM_006073.4(TRDN):c.1568-14T>C
|
|
|
|
NM_006073.4(TRDN):c.1568-15T>C
|
|
|
|
NM_006073.4(TRDN):c.1568-16C>T
|
|
|
|
NM_006073.4(TRDN):c.1568-17C>A
|
|
|
|
NM_006073.4(TRDN):c.1568-18G>A
|
|
|
|
NM_006073.4(TRDN):c.1568-20del
|
|
|
|
NM_006073.4(TRDN):c.1568-5C>T
|
|
|
|
NM_006073.4(TRDN):c.156G>C (p.Leu52=)
|
|
|
|
NM_006073.4(TRDN):c.156G>T (p.Leu52=)
|
|
|
|
NM_006073.4(TRDN):c.1584A>G (p.Lys528=)
|
|
|
|
NM_006073.4(TRDN):c.1597+10G>A
|
rs150165710
|
|
|
NM_006073.4(TRDN):c.1597+11C>T
|
|
|
|
NM_006073.4(TRDN):c.1597+15A>G
|
|
|
|
NM_006073.4(TRDN):c.1598-12T>C
|
|
|
|
NM_006073.4(TRDN):c.1598-15ATTT[2]
|
|
|
|
NM_006073.4(TRDN):c.1598-16T>A
|
|
|
|
NM_006073.4(TRDN):c.1598-16T>C
|
|
|
|
NM_006073.4(TRDN):c.1598-18_1598-14del
|
|
|
|
NM_006073.4(TRDN):c.1598-20A>G
|
|
|
|
NM_006073.4(TRDN):c.1598-20_1598-19del
|
rs1463323606
|
|
|
NM_006073.4(TRDN):c.1598-23_1598-19del
|
rs1282710403
|
|
|
NM_006073.4(TRDN):c.1598-4_1598-3insTTTAT
|
|
|
|
NM_006073.4(TRDN):c.159C>A (p.Val53=)
|
|
|
|
NM_006073.4(TRDN):c.1608A>G (p.Glu536=)
|
rs2114616513
|
|
|
NM_006073.4(TRDN):c.1624+20T>C
|
|
|
|
NM_006073.4(TRDN):c.1624+9T>A
|
|
|
|
NM_006073.4(TRDN):c.1625-11A>C
|
|
|
|
NM_006073.4(TRDN):c.1626A>G (p.Lys542=)
|
|
|
|
NM_006073.4(TRDN):c.1632C>T (p.Asp544=)
|
|
|
|
NM_006073.4(TRDN):c.1672+13T>C
|
|
|
|
NM_006073.4(TRDN):c.1673-10C>T
|
|
|
|
NM_006073.4(TRDN):c.168G>A (p.Leu56=)
|
rs1290905998
|
|
|
NM_006073.4(TRDN):c.1701T>G (p.Ala567=)
|
rs1208419306
|
|
|
NM_006073.4(TRDN):c.1720+9G>A
|
|
|
|
NM_006073.4(TRDN):c.1721-10T>C
|
rs2114610669
|
|
|
NM_006073.4(TRDN):c.1721-11A>G
|
rs1356432525
|
|
|
NM_006073.4(TRDN):c.1721-16C>T
|
|
|
|
NM_006073.4(TRDN):c.1721-4A>T
|
rs60743141
|
|
|
NM_006073.4(TRDN):c.1721-6C>T
|
|
|
|
NM_006073.4(TRDN):c.1738+10G>A
|
|
|
|
NM_006073.4(TRDN):c.1738+12A>G
|
|
|
|
NM_006073.4(TRDN):c.1738+20A>G
|
|
|
|
NM_006073.4(TRDN):c.1739-15G>T
|
|
|
|
NM_006073.4(TRDN):c.1739-16T>G
|
|
|
|
NM_006073.4(TRDN):c.1739-17T>C
|
|
|
|
NM_006073.4(TRDN):c.1770A>C (p.Pro590=)
|
rs2114606782
|
|
|
NM_006073.4(TRDN):c.1783+8A>G
|
|
|
|
NM_006073.4(TRDN):c.1784-16del
|
rs1181050406
|
|
|
NM_006073.4(TRDN):c.1784-18T>C
|
|
|
|
NM_006073.4(TRDN):c.1784-7T>C
|
|
|
|
NM_006073.4(TRDN):c.1784-7T>G
|
|
|
|
NM_006073.4(TRDN):c.1784-8C>G
|
rs759126653
|
|
|
NM_006073.4(TRDN):c.1784-9C>A
|
|
|
|
NM_006073.4(TRDN):c.1804+10C>T
|
|
|
|
NM_006073.4(TRDN):c.1804+8T>C
|
|
|
|
NM_006073.4(TRDN):c.1805-19_1805-18insC
|
|
|
|
NM_006073.4(TRDN):c.1805-4A>T
|
|
|
|
NM_006073.4(TRDN):c.1805-6_1805-4del
|
rs2114588768
|
|
|
NM_006073.4(TRDN):c.1805-6dup
|
|
|
|
NM_006073.4(TRDN):c.1805-7T>C
|
|
|
|
NM_006073.4(TRDN):c.1831+17T>A
|
rs953116640
|
|
|
NM_006073.4(TRDN):c.1831+9T>C
|
|
|
|
NM_006073.4(TRDN):c.1831+9T>G
|
|
|
|
NM_006073.4(TRDN):c.1832-11C>A
|
|
|
|
NM_006073.4(TRDN):c.1832-4C>T
|
|
|
|
NM_006073.4(TRDN):c.1832-5C>G
|
|
|
|
NM_006073.4(TRDN):c.1832-5C>T
|
|
|
|
NM_006073.4(TRDN):c.1845T>C (p.Thr615=)
|
|
|
|
NM_006073.4(TRDN):c.1857A>G (p.Glu619=)
|
|
|
|
NM_006073.4(TRDN):c.1870+19G>C
|
|
|
|
NM_006073.4(TRDN):c.1870+19G>T
|
|
|
|
NM_006073.4(TRDN):c.1871-20T>C
|
|
|
|
NM_006073.4(TRDN):c.1871-6A>C
|
|
|
|
NM_006073.4(TRDN):c.1881C>T (p.Asp627=)
|
rs1776538992
|
|
|
NM_006073.4(TRDN):c.1887G>A (p.Lys629=)
|
|
|
|
NM_006073.4(TRDN):c.1906+10del
|
rs1371429325
|
|
|
NM_006073.4(TRDN):c.1906+17A>G
|
|
|
|
NM_006073.4(TRDN):c.1906+8T>C
|
|
|
|
NM_006073.4(TRDN):c.1907-16T>C
|
|
|
|
NM_006073.4(TRDN):c.1907-29_1907-15del
|
|
|
|
NM_006073.4(TRDN):c.1907-7T>C
|
|
|
|
NM_006073.4(TRDN):c.1938C>T (p.His646=)
|
|
|
|
NM_006073.4(TRDN):c.1951+13T>G
|
rs2114576557
|
|
|
NM_006073.4(TRDN):c.1951+9G>A
|
|
|
|
NM_006073.4(TRDN):c.1952-15del
|
rs2114570805
|
|
|
NM_006073.4(TRDN):c.1975+7A>G
|
|
|
|
NM_006073.4(TRDN):c.1976-11C>T
|
|
|
|
NM_006073.4(TRDN):c.1989T>C (p.Asp663=)
|
|
|
|
NM_006073.4(TRDN):c.2014+15T>C
|
rs2114505350
|
|
|
NM_006073.4(TRDN):c.2014+17T>C
|
rs2114505346
|
|
|
NM_006073.4(TRDN):c.2014+20A>G
|
rs2114505323
|
|
|
NM_006073.4(TRDN):c.2014+9G>T
|
|
|
|
NM_006073.4(TRDN):c.2015-7C>T
|
|
|
|
NM_006073.4(TRDN):c.2037C>T (p.Pro679=)
|
|
|
|
NM_006073.4(TRDN):c.2050+18T>C
|
|
|
|
NM_006073.4(TRDN):c.2051-12T>C
|
|
|
|
NM_006073.4(TRDN):c.2051-13C>A
|
rs763319003
|
|
|
NM_006073.4(TRDN):c.2051-13C>T
|
|
|
|
NM_006073.4(TRDN):c.2051-19_2051-18inv
|
|
|
|
NM_006073.4(TRDN):c.2051-5C>T
|
|
|
|
NM_006073.4(TRDN):c.2121T>A (p.Thr707=)
|
|
|
|
NM_006073.4(TRDN):c.213G>A (p.Val71=)
|
|
|
|
NM_006073.4(TRDN):c.2160T>C (p.Asn720=)
|
|
|
|
NM_006073.4(TRDN):c.2169A>G (p.Gly723=)
|
|
|
|
NM_006073.4(TRDN):c.22+19G>C
|
|
|
|
NM_006073.4(TRDN):c.232+11T>C
|
|
|
|
NM_006073.4(TRDN):c.237C>T (p.Ser79=)
|
rs2114437291
|
|
|
NM_006073.4(TRDN):c.24A>G (p.Gly8=)
|
|
|
|
NM_006073.4(TRDN):c.271C>T (p.Leu91=)
|
|
|
|
NM_006073.4(TRDN):c.312T>C (p.Tyr104=)
|
|
|
|
NM_006073.4(TRDN):c.348T>C (p.Ser116=)
|
rs746361154
|
|
|
NM_006073.4(TRDN):c.384T>C (p.Thr128=)
|
rs2114436256
|
|
|
NM_006073.4(TRDN):c.391+13T>C
|
|
|
|
NM_006073.4(TRDN):c.391+19T>A
|
|
|
|
NM_006073.4(TRDN):c.392-6G>C
|
rs1781166505
|
|
|
NM_006073.4(TRDN):c.392-7G>T
|
rs1781166753
|
|
|
NM_006073.4(TRDN):c.402T>C (p.Asp134=)
|
rs1583222819
|
|
|
NM_006073.4(TRDN):c.411C>T (p.Pro137=)
|
|
|
|
NM_006073.4(TRDN):c.414G>A (p.Leu138=)
|
|
|
|
NM_006073.4(TRDN):c.417A>G (p.Arg139=)
|
rs1781163116
|
|
|
NM_006073.4(TRDN):c.424+13C>T
|
|
|
|
NM_006073.4(TRDN):c.424+14A>G
|
|
|
|
NM_006073.4(TRDN):c.424+8G>A
|
rs906772880
|
|
|
NM_006073.4(TRDN):c.425-11T>C
|
rs2114339291
|
|
|
NM_006073.4(TRDN):c.425-11dup
|
rs950851610
|
|
|
NM_006073.4(TRDN):c.425-12A>G
|
|
|
|
NM_006073.4(TRDN):c.425-14C>A
|
|
|
|
NM_006073.4(TRDN):c.425-7T>C
|
|
|
|
NM_006073.4(TRDN):c.432C>T (p.His144=)
|
|
|
|
NM_006073.4(TRDN):c.484+10T>C
|
|
|
|
NM_006073.4(TRDN):c.485-19T>C
|
|
|
|
NM_006073.4(TRDN):c.485-20A>G
|
|
|
|
NM_006073.4(TRDN):c.485-8C>T
|
rs767131579
|
|
|
NM_006073.4(TRDN):c.525A>G (p.Arg175=)
|
|
|
|
NM_006073.4(TRDN):c.550+12C>T
|
rs2114871069
|
|
|
NM_006073.4(TRDN):c.551-19G>C
|
|
|
|
NM_006073.4(TRDN):c.551-20T>C
|
rs1554251627
|
|
|
NM_006073.4(TRDN):c.551-7G>A
|
|
|
|
NM_006073.4(TRDN):c.551-7G>C
|
|
|
|
NM_006073.4(TRDN):c.579A>G (p.Lys193=)
|
|
|
|
NM_006073.4(TRDN):c.585A>G (p.Lys195=)
|
|
|
|
NM_006073.4(TRDN):c.591A>G (p.Glu197=)
|
|
|
|
NM_006073.4(TRDN):c.610+10C>A
|
rs1779222090
|
|
|
NM_006073.4(TRDN):c.610+11A>G
|
|
|
|
NM_006073.4(TRDN):c.630T>C (p.Thr210=)
|
|
|
|
NM_006073.4(TRDN):c.651G>A (p.Lys217=)
|
rs781233223
|
|
|
NM_006073.4(TRDN):c.693G>A (p.Lys231=)
|
rs754258360
|
|
|
NM_006073.4(TRDN):c.705A>G (p.Ala235=)
|
rs1778803094
|
|
|
NM_006073.4(TRDN):c.780G>A (p.Lys260=)
|
rs771614858
|
|
|
NM_006073.4(TRDN):c.793+7A>G
|
rs373240967
|
|
|
NM_006073.4(TRDN):c.794-10A>G
|
|
|
|
NM_006073.4(TRDN):c.794-12C>T
|
|
|
|
NM_006073.4(TRDN):c.794-8T>A
|
|
|
|
NM_006073.4(TRDN):c.81C>T (p.Ser27=)
|
rs2114538002
|
|
|
NM_006073.4(TRDN):c.853+10G>A
|
|
|
|
NM_006073.4(TRDN):c.854-10C>A
|
|
|
|
NM_006073.4(TRDN):c.854-13C>G
|
|
|
|
NM_006073.4(TRDN):c.854-17A>G
|
rs1776700892
|
|
|
NM_006073.4(TRDN):c.854-4G>A
|
|
|
|
NM_006073.4(TRDN):c.876T>A (p.Pro292=)
|
|
|
|
NM_006073.4(TRDN):c.87A>T (p.Gly29=)
|
|
|
|
NM_006073.4(TRDN):c.901A>C (p.Arg301=)
|
|
|
|
NM_006073.4(TRDN):c.931+9T>C
|
rs2114709001
|
|
|
NM_006073.4(TRDN):c.945A>G (p.Glu315=)
|
|
|
|
NM_006073.4(TRDN):c.948G>A (p.Lys316=)
|
rs1060504473
|
|
|
NM_006073.4(TRDN):c.963G>A (p.Lys321=)
|
|
|
|
NM_006073.4(TRDN):c.991+19A>G
|
|
|
|
NM_006073.4(TRDN):c.992-15T>C
|
|
|
|
NM_006270.5(RRAS):c.153+10C>A
|
|
|
|
NM_006270.5(RRAS):c.153+18G>A
|
|
|
|
NM_006270.5(RRAS):c.154-10A>T
|
|
|
|
NM_006270.5(RRAS):c.154-6C>T
|
|
|
|
NM_006270.5(RRAS):c.162C>T (p.Phe54=)
|
|
|
|
NM_006270.5(RRAS):c.231C>A (p.Ala77=)
|
rs557964716
|
|
|
NM_006270.5(RRAS):c.241+17T>C
|
|
|
|
NM_006270.5(RRAS):c.241+20A>G
|
|
|
|
NM_006270.5(RRAS):c.242-12_242-11del
|
|
|
|
NM_006270.5(RRAS):c.242-8C>G
|
|
|
|
NM_006270.5(RRAS):c.252C>T (p.Thr84=)
|
|
|
|
NM_006270.5(RRAS):c.270C>T (p.Phe90=)
|
|
|
|
NM_006270.5(RRAS):c.288G>A (p.Gln96=)
|
|
|
|
NM_006270.5(RRAS):c.306C>T (p.His102=)
|
|
|
|
NM_006270.5(RRAS):c.30G>C (p.Gly10=)
|
rs901769495
|
|
|
NM_006270.5(RRAS):c.345-19_345-18del
|
rs2122419483
|
|
|
NM_006270.5(RRAS):c.345-5C>T
|
|
|
|
NM_006270.5(RRAS):c.408C>G (p.Pro136=)
|
rs114187560
|
|
|
NM_006270.5(RRAS):c.42C>T (p.Pro14=)
|
rs1354856207
|
|
|
NM_006270.5(RRAS):c.438G>T (p.Leu146=)
|
rs1599813671
|
|
|
NM_006270.5(RRAS):c.43C>A (p.Arg15=)
|
rs544651800
|
|
|
NM_006270.5(RRAS):c.453+17T>C
|
|
|
|
NM_006270.5(RRAS):c.453+18T>C
|
rs2122418915
|
|
|
NM_006270.5(RRAS):c.453+7G>A
|
rs2122418958
|
|
|
NM_006270.5(RRAS):c.454-11C>G
|
|
|
|
NM_006270.5(RRAS):c.454-13C>T
|
|
|
|
NM_006270.5(RRAS):c.454-20C>T
|
|
|
|
NM_006270.5(RRAS):c.454-4C>T
|
|
|
|
NM_006270.5(RRAS):c.454-7C>T
|
rs2122417189
|
|
|
NM_006270.5(RRAS):c.454-9T>A
|
rs1490597941
|
|
|
NM_006270.5(RRAS):c.480C>T (p.Phe160=)
|
|
|
|
NM_006270.5(RRAS):c.492C>T (p.His164=)
|
rs2122416934
|
|
|
NM_006270.5(RRAS):c.516G>A (p.Ser172=)
|
rs199924228
|
|
|
NM_006270.5(RRAS):c.516G>T (p.Ser172=)
|
|
|
|
NM_006270.5(RRAS):c.567T>C (p.Ala189=)
|
|
|
|
NM_006270.5(RRAS):c.572+13C>A
|
|
|
|
NM_006270.5(RRAS):c.573-15G>A
|
|
|
|
NM_006270.5(RRAS):c.573-16del
|
|
|
|
NM_006270.5(RRAS):c.609C>T (p.Pro203=)
|
|
|
|
NM_006270.5(RRAS):c.630C>T (p.Gly210=)
|
|
|
|
NM_006270.5(RRAS):c.642C>T (p.Pro214=)
|
|
|
|
NM_006270.5(RRAS):c.66G>A (p.Gly22=)
|
rs1249345635
|
|
|
NM_006270.5(RRAS):c.75G>C (p.Pro25=)
|
rs2122429854
|
|
|
NM_006284.4(TAF10):c.*1000A>G
|
|
|
|
NM_006284.4(TAF10):c.*1003dup
|
rs1554899641
|
|
|
NM_006284.4(TAF10):c.*1006T>C
|
rs2134569653
|
|
|
NM_006284.4(TAF10):c.*1064C>T
|
|
|
|
NM_006284.4(TAF10):c.*1067G>C
|
rs1440762009
|
|
|
NM_006284.4(TAF10):c.*1208G>A
|
rs1589940447
|
|
|
NM_006284.4(TAF10):c.*1208G>C
|
rs1589940447
|
|
|
NM_006284.4(TAF10):c.*1210C>G
|
|
|
|
NM_006284.4(TAF10):c.*1215_*1217del
|
|
|
|
NM_006284.4(TAF10):c.*1267C>A
|
|
|
|
NM_006284.4(TAF10):c.*1424G>A
|
|
|
|
NM_006284.4(TAF10):c.*1425G>A
|
|
|
|
NM_006284.4(TAF10):c.*1636T>G
|
|
|
|
NM_006284.4(TAF10):c.*1641G>C
|
rs377752465
|
|
|
NM_006284.4(TAF10):c.*1747del
|
|
|
|
NM_006284.4(TAF10):c.*1748AAG[1]
|
|
|
|
NM_006284.4(TAF10):c.*1867G>A
|
|
|
|
NM_006284.4(TAF10):c.*1942A>G
|
|
|
|
NM_006284.4(TAF10):c.*2052_*2055del
|
|
|
|
NM_006284.4(TAF10):c.*2121G>C
|
rs1855196418
|
|
|
NM_006284.4(TAF10):c.*2236G>A
|
rs2134557160
|
|
|
NM_006284.4(TAF10):c.*2415T>C
|
rs1663195410
|
|
|
NM_006284.4(TAF10):c.*2694A>C
|
|
|
|
NM_006284.4(TAF10):c.*471A>C
|
|
|
|
NM_006284.4(TAF10):c.*471A>G
|
|
|
|
NM_006284.4(TAF10):c.*473G>C
|
rs2134575533
|
|
|
NM_006284.4(TAF10):c.*477A>T
|
|
|
|
NM_006284.4(TAF10):c.*478A>G
|
|
|
|
NM_006284.4(TAF10):c.*480A>T
|
rs2134575363
|
|
|
NM_006284.4(TAF10):c.*626A>G
|
|
|
|
NM_006284.4(TAF10):c.*629C>G
|
|
|
|
NM_006284.4(TAF10):c.*784T>G
|
rs769283883
|
|
|
NM_006284.4(TAF10):c.*789C>T
|
rs553103939
|
|
|
NM_006393.3(NEBL):c.1008+4_1008+5inv
|
|
|
|
NM_006393.3(NEBL):c.1008+8C>T
|
rs376842299
|
|
|
NM_006393.3(NEBL):c.1009-10T>C
|
rs1842402338
|
|
|
NM_006393.3(NEBL):c.1117-17G>T
|
|
|
|
NM_006393.3(NEBL):c.1119A>G (p.Lys373=)
|
rs1381516485
|
|
|
NM_006393.3(NEBL):c.1125C>T (p.Tyr375=)
|
|
|
|
NM_006393.3(NEBL):c.1221G>A (p.Leu407=)
|
rs2131006177
|
|
|
NM_006393.3(NEBL):c.1228-13T>A
|
rs2130972710
|
|
|
NM_006393.3(NEBL):c.1228-4A>G
|
|
|
|
NM_006393.3(NEBL):c.1228-6_1228-5del
|
|
|
|
NM_006393.3(NEBL):c.1269A>G (p.Lys423=)
|
rs138932199
|
|
|
NM_006393.3(NEBL):c.1308A>G (p.Arg436=)
|
|
|
|
NM_006393.3(NEBL):c.1338+19C>T
|
rs2130970836
|
|
|
NM_006393.3(NEBL):c.1434A>G (p.Ala478=)
|
rs2130934253
|
|
|
NM_006393.3(NEBL):c.1450-11A>G
|
rs749398135
|
|
|
NM_006393.3(NEBL):c.1450-18A>T
|
|
|
|
NM_006393.3(NEBL):c.1450-4G>A
|
rs756328675
|
|
|
NM_006393.3(NEBL):c.1473G>A (p.Glu491=)
|
|
|
|
NM_006393.3(NEBL):c.1491A>G (p.Lys497=)
|
|
|
|
NM_006393.3(NEBL):c.150C>T (p.Ser50=)
|
rs1465019438
|
|
|
NM_006393.3(NEBL):c.153+12G>T
|
rs761120845
|
|
|
NM_006393.3(NEBL):c.153+8G>C
|
rs1588971724
|
|
|
NM_006393.3(NEBL):c.1533T>G (p.Ala511=)
|
|
|
|
NM_006393.3(NEBL):c.1536G>A (p.Lys512=)
|
|
|
|
NM_006393.3(NEBL):c.154-13T>G
|
|
|
|
NM_006393.3(NEBL):c.1545C>T (p.Ser515=)
|
|
|
|
NM_006393.3(NEBL):c.1560+18T>A
|
rs1210297527
|
|
|
NM_006393.3(NEBL):c.1560+18T>C
|
|
|
|
NM_006393.3(NEBL):c.1560+7C>G
|
|
|
|
NM_006393.3(NEBL):c.1560+9G>A
|
|
|
|
NM_006393.3(NEBL):c.1561-12C>A
|
|
|
|
NM_006393.3(NEBL):c.1561-5T>C
|
|
|
|
NM_006393.3(NEBL):c.1566A>G (p.Gln522=)
|
|
|
|
NM_006393.3(NEBL):c.1614G>A (p.Val538=)
|
rs1840384699
|
|
|
NM_006393.3(NEBL):c.1671+18A>G
|
|
|
|
NM_006393.3(NEBL):c.1671+20G>A
|
|
|
|
NM_006393.3(NEBL):c.1672-15T>C
|
|
|
|
NM_006393.3(NEBL):c.1775C>A (p.Ala592Glu)
|
rs146275785
|
|
|
NM_006393.3(NEBL):c.1777-19T>A
|
|
|
|
NM_006393.3(NEBL):c.1777-19T>C
|
|
|
|
NM_006393.3(NEBL):c.1785T>C (p.Tyr595=)
|
|
|
|
NM_006393.3(NEBL):c.1803T>C (p.Ala601=)
|
rs2130874098
|
|
|
NM_006393.3(NEBL):c.1821T>C (p.Asp607=)
|
|
|
|
NM_006393.3(NEBL):c.1833C>T (p.Ile611=)
|
|
|
|
NM_006393.3(NEBL):c.1860T>C (p.Asn620=)
|
|
|
|
NM_006393.3(NEBL):c.1869+10C>G
|
|
|
|
NM_006393.3(NEBL):c.1869+11T>C
|
|
|
|
NM_006393.3(NEBL):c.1869+16C>A
|
rs758601320
|
|
|
NM_006393.3(NEBL):c.1870-19A>G
|
|
|
|
NM_006393.3(NEBL):c.1870-20T>G
|
|
|
|
NM_006393.3(NEBL):c.1872G>A (p.Val624=)
|
|
|
|
NM_006393.3(NEBL):c.1953C>T (p.Asn651=)
|
rs1180920699
|
|
|
NM_006393.3(NEBL):c.1962+10T>A
|
|
|
|
NM_006393.3(NEBL):c.1963-18T>C
|
rs2130828306
|
|
|
NM_006393.3(NEBL):c.1963-7C>G
|
|
|
|
NM_006393.3(NEBL):c.1965C>G (p.Leu655=)
|
|
|
|
NM_006393.3(NEBL):c.198A>C (p.Thr66=)
|
|
|
|
NM_006393.3(NEBL):c.2055+12_2055+13del
|
|
|
|
NM_006393.3(NEBL):c.2055+15T>C
|
rs2130827080
|
|
|
NM_006393.3(NEBL):c.2055+7C>A
|
rs368793318
|
|
|
NM_006393.3(NEBL):c.2056-15A>G
|
|
|
|
NM_006393.3(NEBL):c.2070A>T (p.Gly690=)
|
|
|
|
NM_006393.3(NEBL):c.2080C>A (p.Arg694=)
|
|
|
|
NM_006393.3(NEBL):c.2148+19del
|
|
|
|
NM_006393.3(NEBL):c.2196T>G (p.Thr732=)
|
|
|
|
NM_006393.3(NEBL):c.21G>A (p.Glu7=)
|
rs1767961581
|
|
|
NM_006393.3(NEBL):c.2241+18T>C
|
|
|
|
NM_006393.3(NEBL):c.2242-4G>T
|
|
|
|
NM_006393.3(NEBL):c.2289G>C (p.Leu763=)
|
rs1196603745
|
|
|
NM_006393.3(NEBL):c.2301A>T (p.Thr767=)
|
|
|
|
NM_006393.3(NEBL):c.2346+18C>A
|
|
|
|
NM_006393.3(NEBL):c.2347-18T>C
|
rs2130788646
|
|
|
NM_006393.3(NEBL):c.2364T>C (p.Asp788=)
|
rs1838317526
|
|
|
NM_006393.3(NEBL):c.2418A>G (p.Thr806=)
|
rs2130787886
|
|
|
NM_006393.3(NEBL):c.2433G>A (p.Lys811=)
|
|
|
|
NM_006393.3(NEBL):c.2439C>A (p.Thr813=)
|
rs757884238
|
|
|
NM_006393.3(NEBL):c.2448C>T (p.Val816=)
|
|
|
|
NM_006393.3(NEBL):c.2475C>T (p.His825=)
|
rs727503334
|
|
|
NM_006393.3(NEBL):c.2511C>T (p.Ile837=)
|
|
|
|
NM_006393.3(NEBL):c.2518+10C>A
|
rs747607700
|
|
|
NM_006393.3(NEBL):c.2518+13C>T
|
|
|
|
NM_006393.3(NEBL):c.259-10T>C
|
|
|
|
NM_006393.3(NEBL):c.259-19C>G
|
|
|
|
NM_006393.3(NEBL):c.259-6_259-5insT
|
|
|
|
NM_006393.3(NEBL):c.259-7C>T
|
|
|
|
NM_006393.3(NEBL):c.2607C>T (p.Leu869=)
|
rs773544548
|
|
|
NM_006393.3(NEBL):c.2611+20T>C
|
|
|
|
NM_006393.3(NEBL):c.2611+7C>T
|
rs2130768866
|
|
|
NM_006393.3(NEBL):c.2611+8T>G
|
rs2130768850
|
|
|
NM_006393.3(NEBL):c.2643T>C (p.Ser881=)
|
|
|
|
NM_006393.3(NEBL):c.2682A>G (p.Gly894=)
|
rs1334949712
|
|
|
NM_006393.3(NEBL):c.2814C>T (p.Tyr938=)
|
|
|
|
NM_006393.3(NEBL):c.2823G>A (p.Gln941=)
|
|
|
|
NM_006393.3(NEBL):c.2847A>T (p.Ser949=)
|
rs1060504994
|
|
|
NM_006393.3(NEBL):c.2868+11A>C
|
rs2131618868
|
|
|
NM_006393.3(NEBL):c.2869-9C>T
|
|
|
|
NM_006393.3(NEBL):c.2895C>T (p.Tyr965=)
|
rs2131613989
|
|
|
NM_006393.3(NEBL):c.2934C>T (p.Gly978=)
|
|
|
|
NM_006393.3(NEBL):c.2943C>A (p.Ile981=)
|
|
|
|
NM_006393.3(NEBL):c.2949C>T (p.Asn983=)
|
|
|
|
NM_006393.3(NEBL):c.2979C>T (p.Tyr993=)
|
|
|
|
NM_006393.3(NEBL):c.2985A>G (p.Thr995=)
|
rs534621300
|
|
|
NM_006393.3(NEBL):c.3036T>C (p.Phe1012=)
|
|
|
|
NM_006393.3(NEBL):c.312G>T (p.Arg104=)
|
|
|
|
NM_006393.3(NEBL):c.327T>C (p.Ile109=)
|
|
|
|
NM_006393.3(NEBL):c.369+12C>T
|
|
|
|
NM_006393.3(NEBL):c.370-10T>C
|
|
|
|
NM_006393.3(NEBL):c.370-19A>C
|
|
|
|
NM_006393.3(NEBL):c.383A>T (p.Gln128Leu)
|
rs139809958
|
|
|
NM_006393.3(NEBL):c.390T>C (p.His130=)
|
rs1462163062
|
|
|
NM_006393.3(NEBL):c.405A>C (p.Gly135=)
|
rs1588924846
|
|
|
NM_006393.3(NEBL):c.408C>T (p.Phe136=)
|
|
|
|
NM_006393.3(NEBL):c.480+10C>A
|
rs377230358
|
|
|
NM_006393.3(NEBL):c.480+10C>T
|
rs377230358
|
|
|
NM_006393.3(NEBL):c.480+9G>A
|
rs2131315618
|
|
|
NM_006393.3(NEBL):c.481-10C>T
|
|
|
|
NM_006393.3(NEBL):c.481-18A>T
|
|
|
|
NM_006393.3(NEBL):c.481-6G>A
|
rs1286250524
|
|
|
NM_006393.3(NEBL):c.528A>G (p.Glu176=)
|
|
|
|
NM_006393.3(NEBL):c.540A>G (p.Pro180=)
|
rs2131238828
|
|
|
NM_006393.3(NEBL):c.558C>A (p.Thr186=)
|
rs1844724636
|
|
|
NM_006393.3(NEBL):c.582+14C>T
|
|
|
|
NM_006393.3(NEBL):c.582+15T>C
|
|
|
|
NM_006393.3(NEBL):c.685-11T>C
|
|
|
|
NM_006393.3(NEBL):c.685-15T>G
|
|
|
|
NM_006393.3(NEBL):c.711T>C (p.Asn237=)
|
rs2131147146
|
|
|
NM_006393.3(NEBL):c.798+12T>A
|
|
|
|
NM_006393.3(NEBL):c.798+14C>T
|
rs968358305
|
|
|
NM_006393.3(NEBL):c.798+17A>G
|
rs1021328811
|
|
|
NM_006393.3(NEBL):c.799-12T>C
|
|
|
|
NM_006393.3(NEBL):c.799-15A>C
|
|
|
|
NM_006393.3(NEBL):c.81+16_81+17del
|
rs2131413510
|
|
|
NM_006393.3(NEBL):c.81+18_81+23del
|
|
|
|
NM_006393.3(NEBL):c.81+20C>T
|
|
|
|
NM_006393.3(NEBL):c.82-15T>C
|
rs2131413042
|
|
|
NM_006393.3(NEBL):c.822A>G (p.Gln274=)
|
|
|
|
NM_006393.3(NEBL):c.870C>T (p.Asp290=)
|
rs1843296570
|
|
|
NM_006393.3(NEBL):c.903+13T>A
|
rs780937421
|
|
|
NM_006393.3(NEBL):c.903+18C>A
|
|
|
|
NM_006440.5(TXNRD2):c.1002T>C (p.Thr334=)
|
rs1938875775
|
|
|
NM_006440.5(TXNRD2):c.1029G>A (p.Val343=)
|
rs758006460
|
|
|
NM_006440.5(TXNRD2):c.103+13C>G
|
|
|
|
NM_006440.5(TXNRD2):c.103+17G>T
|
|
|
|
NM_006440.5(TXNRD2):c.1032C>T (p.Asp344=)
|
rs759106464
|
|
|
NM_006440.5(TXNRD2):c.104-10del
|
|
|
|
NM_006440.5(TXNRD2):c.1059C>T (p.His353=)
|
rs2145939709
|
|
|
NM_006440.5(TXNRD2):c.1086+11C>A
|
|
|
|
NM_006440.5(TXNRD2):c.1086+12_1086+13delinsTC
|
rs2145939546
|
|
|
NM_006440.5(TXNRD2):c.1086+16C>T
|
|
|
|
NM_006440.5(TXNRD2):c.1086+19_1086+20insGGCA
|
rs918796709
|
|
|
NM_006440.5(TXNRD2):c.1087-14dup
|
|
|
|
NM_006440.5(TXNRD2):c.1087-15T>C
|
|
|
|
NM_006440.5(TXNRD2):c.1087-4C>T
|
rs942304915
|
|
|
NM_006440.5(TXNRD2):c.1107C>A (p.Pro369=)
|
rs371533709
|
|
|
NM_006440.5(TXNRD2):c.1107C>T (p.Pro369=)
|
|
|
|
NM_006440.5(TXNRD2):c.1109_1110delinsCG (p.Ile370Thr)
|
rs2145933207
|
|
|
NM_006440.5(TXNRD2):c.1122C>G (p.Ala374=)
|
|
|
|
NM_006440.5(TXNRD2):c.1173C>T (p.Asp391=)
|
|
|
|
NM_006440.5(TXNRD2):c.1188C>T (p.Pro396=)
|
|
|
|
NM_006440.5(TXNRD2):c.1191G>A (p.Thr397=)
|
rs1292463748
|
|
|
NM_006440.5(TXNRD2):c.1254C>T (p.Arg418=)
|
rs1188379074
|
|
|
NM_006440.5(TXNRD2):c.1257C>T (p.His419=)
|
|
|
|
NM_006440.5(TXNRD2):c.1266G>A (p.Glu422=)
|
rs1569070557
|
|
|
NM_006440.5(TXNRD2):c.1276-11C>A
|
|
|
|
NM_006440.5(TXNRD2):c.1276-16_1276-14del
|
rs543441133
|
|
|
NM_006440.5(TXNRD2):c.1284C>T (p.His428=)
|
|
|
|
NM_006440.5(TXNRD2):c.1302G>A (p.Leu434=)
|
|
|
|
NM_006440.5(TXNRD2):c.1311G>A (p.Thr437=)
|
|
|
|
NM_006440.5(TXNRD2):c.1332C>A (p.Ser444=)
|
rs1938606312
|
|
|
NM_006440.5(TXNRD2):c.1347+13G>A
|
|
|
|
NM_006440.5(TXNRD2):c.1348-13G>A
|
|
|
|
NM_006440.5(TXNRD2):c.1371A>G (p.Pro457=)
|
|
|
|
NM_006440.5(TXNRD2):c.1375C>T (p.Leu459=)
|
rs2145927277
|
|
|
NM_006440.5(TXNRD2):c.1381C>T (p.Leu461=)
|
rs2145927256
|
|
|
NM_006440.5(TXNRD2):c.1407C>A (p.Asn469Lys)
|
rs200063300
|
|
|
NM_006440.5(TXNRD2):c.1407C>T (p.Asn469=)
|
rs200063300
|
|
|
NM_006440.5(TXNRD2):c.1422T>G (p.Thr474=)
|
rs2145927131
|
|
|
NM_006440.5(TXNRD2):c.1435C>T (p.Leu479=)
|
|
|
|
NM_006440.5(TXNRD2):c.1445+10G>A
|
|
|
|
NM_006440.5(TXNRD2):c.1445+18C>G
|
rs41431147
|
|
|
NM_006440.5(TXNRD2):c.1446-15A>G
|
|
|
|
NM_006440.5(TXNRD2):c.1446-7T>C
|
|
|
|
NM_006440.5(TXNRD2):c.1446-8A>G
|
|
|
|
NM_006440.5(TXNRD2):c.1515C>T (p.Val505=)
|
|
|
|
NM_006440.5(TXNRD2):c.1560A>C (p.Thr520=)
|
rs763666305
|
|
|
NM_006440.5(TXNRD2):c.1572G>A (p.Gly524=)
|
|
|
|
NM_006440.5(TXNRD2):c.165C>T (p.Ala55=)
|
|
|
|
NM_006440.5(TXNRD2):c.172+11T>G
|
|
|
|
NM_006440.5(TXNRD2):c.172+14A>G
|
|
|
|
NM_006440.5(TXNRD2):c.172+20C>T
|
|
|
|
NM_006440.5(TXNRD2):c.173-14C>T
|
|
|
|
NM_006440.5(TXNRD2):c.173-7C>A
|
|
|
|
NM_006440.5(TXNRD2):c.198C>T (p.Ala66=)
|
|
|
|
NM_006440.5(TXNRD2):c.21G>A (p.Ala7=)
|
rs2146120385
|
|
|
NM_006440.5(TXNRD2):c.229+13C>G
|
|
|
|
NM_006440.5(TXNRD2):c.229+7A>T
|
|
|
|
NM_006440.5(TXNRD2):c.249C>T (p.Gly83=)
|
|
|
|
NM_006440.5(TXNRD2):c.255C>T (p.Thr85=)
|
|
|
|
NM_006440.5(TXNRD2):c.258C>T (p.Cys86=)
|
|
|
|
NM_006440.5(TXNRD2):c.279C>T (p.Pro93=)
|
|
|
|
NM_006440.5(TXNRD2):c.300G>A (p.Ala100=)
|
|
|
|
NM_006440.5(TXNRD2):c.366G>T (p.Pro122=)
|
rs3747068
|
|
|
NM_006440.5(TXNRD2):c.374+16C>T
|
rs141500917
|
|
|
NM_006440.5(TXNRD2):c.374+20G>T
|
rs1375808016
|
|
|
NM_006440.5(TXNRD2):c.375-10A>T
|
|
|
|
NM_006440.5(TXNRD2):c.375-13C>T
|
|
|
|
NM_006440.5(TXNRD2):c.375-14T>G
|
rs753065216
|
|
|
NM_006440.5(TXNRD2):c.375-7T>G
|
rs1060501405
|
|
|
NM_006440.5(TXNRD2):c.449+13T>C
|
|
|
|
NM_006440.5(TXNRD2):c.449+14C>G
|
|
|
|
NM_006440.5(TXNRD2):c.449+7_449+12del
|
|
|
|
NM_006440.5(TXNRD2):c.486T>C (p.Val162=)
|
|
|
|
NM_006440.5(TXNRD2):c.529-8C>A
|
rs754998172
|
|
|
NM_006440.5(TXNRD2):c.564T>C (p.Thr188=)
|
|
|
|
NM_006440.5(TXNRD2):c.591+16G>A
|
|
|
|
NM_006440.5(TXNRD2):c.591+17C>T
|
|
|
|
NM_006440.5(TXNRD2):c.591+18A>G
|
|
|
|
NM_006440.5(TXNRD2):c.591+7G>T
|
rs1166950452
|
|
|
NM_006440.5(TXNRD2):c.662+10G>T
|
rs2146024963
|
|
|
NM_006440.5(TXNRD2):c.662+14G>T
|
|
|
|
NM_006440.5(TXNRD2):c.662+9T>G
|
rs1209514919
|
|
|
NM_006440.5(TXNRD2):c.663-10T>C
|
rs1383048604
|
|
|
NM_006440.5(TXNRD2):c.663-13G>C
|
|
|
|
NM_006440.5(TXNRD2):c.663-5A>G
|
|
|
|
NM_006440.5(TXNRD2):c.663-7C>T
|
rs753045205
|
|
|
NM_006440.5(TXNRD2):c.682+13dup
|
|
|
|
NM_006440.5(TXNRD2):c.682+16G>A
|
rs377147143
|
|
|
NM_006440.5(TXNRD2):c.682+9T>G
|
rs2145979515
|
|
|
NM_006440.5(TXNRD2):c.683-16A>C
|
rs2145976926
|
|
|
NM_006440.5(TXNRD2):c.6G>C (p.Ala2=)
|
|
|
|
NM_006440.5(TXNRD2):c.6G>T (p.Ala2=)
|
rs1601501125
|
|
|
NM_006440.5(TXNRD2):c.702T>C (p.Ala234=)
|
|
|
|
NM_006440.5(TXNRD2):c.72C>T (p.Gly24=)
|
|
|
|
NM_006440.5(TXNRD2):c.774+16C>T
|
|
|
|
NM_006440.5(TXNRD2):c.783C>T (p.Ser261=)
|
rs2145970463
|
|
|
NM_006440.5(TXNRD2):c.819C>T (p.Thr273=)
|
rs2145970318
|
|
|
NM_006440.5(TXNRD2):c.834C>A (p.Gly278=)
|
rs371075332
|
|
|
NM_006440.5(TXNRD2):c.834C>T (p.Gly278=)
|
|
|
|
NM_006440.5(TXNRD2):c.840C>A (p.Ala280=)
|
rs1416399071
|
|
|
NM_006440.5(TXNRD2):c.84C>T (p.Gly28=)
|
|
|
|
NM_006440.5(TXNRD2):c.858G>A (p.Arg286=)
|
rs201503021
|
|
|
NM_006440.5(TXNRD2):c.870C>T (p.Gly290=)
|
|
|
|
NM_006440.5(TXNRD2):c.903C>T (p.Thr301=)
|
rs35695986
|
|
|
NM_006440.5(TXNRD2):c.939G>A (p.Leu313=)
|
rs1060504228
|
|
|
NM_006440.5(TXNRD2):c.949+10C>A
|
|
|
|
NM_006440.5(TXNRD2):c.949+14G>T
|
|
|
|
NM_006440.5(TXNRD2):c.954A>G (p.Arg318=)
|
|
|
|
NM_006440.5(TXNRD2):c.957C>T (p.Val319=)
|
|
|
|
NM_006440.5(TXNRD2):c.987G>A (p.Lys329=)
|
rs1454322676
|
|
|
NM_006912.6(RIT1):c.107-12C>T
|
|
|
|
NM_006912.6(RIT1):c.107-13_107-10del
|
|
|
|
NM_006912.6(RIT1):c.107-6T>G
|
|
|
|
NM_006912.6(RIT1):c.107-9C>A
|
|
|
|
NM_006912.6(RIT1):c.108C>T (p.Ala36=)
|
|
|
|
NM_006912.6(RIT1):c.120G>A (p.Gln40=)
|
|
|
|
NM_006912.6(RIT1):c.163+10A>G
|
|
|
|
NM_006912.6(RIT1):c.163+12C>T
|
|
|
|
NM_006912.6(RIT1):c.163+16A>C
|
|
|
|
NM_006912.6(RIT1):c.163+17C>G
|
|
|
|
NM_006912.6(RIT1):c.164-18C>G
|
|
|
|
NM_006912.6(RIT1):c.164-27_164-17dup
|
|
|
|
NM_006912.6(RIT1):c.164-5T>C
|
|
|
|
NM_006912.6(RIT1):c.18C>T (p.Arg6=)
|
|
|
|
NM_006912.6(RIT1):c.237+11C>A
|
|
|
|
NM_006912.6(RIT1):c.237+12del
|
rs763868802
|
|
|
NM_006912.6(RIT1):c.237+18G>A
|
|
|
|
NM_006912.6(RIT1):c.237+19T>A
|
|
|
|
NM_006912.6(RIT1):c.237+9T>C
|
|
|
|
NM_006912.6(RIT1):c.238-16C>T
|
rs763494925
|
|
|
NM_006912.6(RIT1):c.238-9T>A
|
|
|
|
NM_006912.6(RIT1):c.258G>A (p.Arg86=)
|
|
|
|
NM_006912.6(RIT1):c.261C>T (p.Asp87=)
|
|
|
|
NM_006912.6(RIT1):c.264G>A (p.Gln88=)
|
|
|
|
NM_006912.6(RIT1):c.273G>A (p.Arg91=)
|
|
|
|
NM_006912.6(RIT1):c.316C>A (p.Arg106=)
|
|
|
|
NM_006912.6(RIT1):c.321T>C (p.Ser107=)
|
rs2102584781
|
|
|
NM_006912.6(RIT1):c.351T>C (p.Leu117=)
|
|
|
|
NM_006912.6(RIT1):c.366A>G (p.Arg122=)
|
|
|
|
NM_006912.6(RIT1):c.381A>C (p.Thr127=)
|
rs1206873288
|
|
|
NM_006912.6(RIT1):c.381A>G (p.Thr127=)
|
|
|
|
NM_006912.6(RIT1):c.384T>C (p.Pro128=)
|
|
|
|
NM_006912.6(RIT1):c.387G>A (p.Val129=)
|
|
|
|
NM_006912.6(RIT1):c.408A>G (p.Ser136=)
|
|
|
|
NM_006912.6(RIT1):c.421C>T (p.Leu141=)
|
|
|
|
NM_006912.6(RIT1):c.429+15G>A
|
|
|
|
NM_006912.6(RIT1):c.429+20T>C
|
rs2102584651
|
|
|
NM_006912.6(RIT1):c.429+9A>G
|
|
|
|
NM_006912.6(RIT1):c.430-16C>T
|
|
|
|
NM_006912.6(RIT1):c.430-18C>A
|
|
|
|
NM_006912.6(RIT1):c.430-18C>T
|
|
|
|
NM_006912.6(RIT1):c.430-5T>C
|
rs1571991209
|
|
|
NM_006912.6(RIT1):c.441A>G (p.Glu147=)
|
|
|
|
NM_006912.6(RIT1):c.45C>T (p.Pro15=)
|
|
|
|
NM_006912.6(RIT1):c.465A>G (p.Glu155=)
|
|
|
|
NM_006912.6(RIT1):c.489A>G (p.Thr163=)
|
|
|
|
NM_006912.6(RIT1):c.48T>C (p.Ala16=)
|
|
|
|
NM_006912.6(RIT1):c.492T>C (p.Ser164=)
|
rs2102581097
|
|
|
NM_006912.6(RIT1):c.507C>T (p.Tyr169=)
|
|
|
|
NM_006912.6(RIT1):c.519T>C (p.Asp173=)
|
|
|
|
NM_006912.6(RIT1):c.531C>A (p.Ala177=)
|
|
|
|
NM_006912.6(RIT1):c.552G>A (p.Arg184=)
|
rs1673290776
|
|
|
NM_006912.6(RIT1):c.570A>G (p.Val190=)
|
|
|
|
NM_006912.6(RIT1):c.609A>G (p.Val203=)
|
|
|
|
NM_006912.6(RIT1):c.639G>A (p.Lys213=)
|
rs1673288442
|
|
|
NM_006912.6(RIT1):c.651A>G (p.Ser217=)
|
|
|
|
NM_006912.6(RIT1):c.659G>A (p.Ter220=)
|
|
|
|
NM_006912.6(RIT1):c.72A>G (p.Leu24=)
|
rs770237120
|
|
|
NM_006912.6(RIT1):c.93T>C (p.Gly31=)
|
|
|
|
NM_006939.4(SOS2):c.1017T>A (p.Arg339=)
|
|
|
|
NM_006939.4(SOS2):c.1017T>C (p.Arg339=)
|
|
|
|
NM_006939.4(SOS2):c.1024C>T (p.Leu342=)
|
rs1033098930
|
|
|
NM_006939.4(SOS2):c.1029G>A (p.Val343=)
|
|
|
|
NM_006939.4(SOS2):c.1065A>G (p.Leu355=)
|
|
|
|
NM_006939.4(SOS2):c.1068+11A>G
|
|
|
|
NM_006939.4(SOS2):c.1068+15C>A
|
|
|
|
NM_006939.4(SOS2):c.1069-14_1069-13del
|
|
|
|
NM_006939.4(SOS2):c.1069-16_1069-13del
|
|
|
|
NM_006939.4(SOS2):c.1069-4T>C
|
|
|
|
NM_006939.4(SOS2):c.1080A>T (p.Ala360=)
|
|
|
|
NM_006939.4(SOS2):c.110C>T (p.Thr37Ile)
|
|
|
|
NM_006939.4(SOS2):c.1119A>G (p.Gln373=)
|
|
|
|
NM_006939.4(SOS2):c.1125T>C (p.Ile375=)
|
rs1885009611
|
|
|
NM_006939.4(SOS2):c.1158C>T (p.Asp386=)
|
rs942106224
|
|
|
NM_006939.4(SOS2):c.1170G>A (p.Lys390=)
|
|
|
|
NM_006939.4(SOS2):c.1173G>A (p.Gln391=)
|
|
|
|
NM_006939.4(SOS2):c.1176T>C (p.Tyr392=)
|
rs1555370242
|
|
|
NM_006939.4(SOS2):c.1196+7C>T
|
|
|
|
NM_006939.4(SOS2):c.1197-11_1197-8del
|
|
|
|
NM_006939.4(SOS2):c.1197-20A>G
|
|
|
|
NM_006939.4(SOS2):c.1197-8T>G
|
rs2139630303
|
|
|
NM_006939.4(SOS2):c.1205T>C (p.Val402Ala)
|
|
|
|
NM_006939.4(SOS2):c.1210C>G (p.Pro404Ala)
|
|
|
|
NM_006939.4(SOS2):c.1221T>C (p.Ser407=)
|
|
|
|
NM_006939.4(SOS2):c.1227A>G (p.Gln409=)
|
|
|
|
NM_006939.4(SOS2):c.1230A>G (p.Leu410=)
|
|
|
|
NM_006939.4(SOS2):c.1242C>T (p.His414=)
|
|
|
|
NM_006939.4(SOS2):c.129G>A (p.Glu43=)
|
|
|
|
NM_006939.4(SOS2):c.1323A>G (p.Glu441=)
|
|
|
|
NM_006939.4(SOS2):c.1341A>G (p.Pro447=)
|
rs761540894
|
|
|
NM_006939.4(SOS2):c.1345A>G (p.Thr449Ala)
|
|
|
|
NM_006939.4(SOS2):c.1353C>T (p.Ile451=)
|
|
|
|
NM_006939.4(SOS2):c.1362A>G (p.Lys454=)
|
|
|
|
NM_006939.4(SOS2):c.1371G>T (p.Arg457=)
|
|
|
|
NM_006939.4(SOS2):c.13C>G (p.Pro5Ala)
|
|
|
|
NM_006939.4(SOS2):c.141T>C (p.Tyr47=)
|
|
|
|
NM_006939.4(SOS2):c.1422C>T (p.Gly474=)
|
|
|
|
NM_006939.4(SOS2):c.1445G>A (p.Ser482Asn)
|
|
|
|
NM_006939.4(SOS2):c.1455A>G (p.Glu485=)
|
|
|
|
NM_006939.4(SOS2):c.1464A>G (p.Leu488=)
|
|
|
|
NM_006939.4(SOS2):c.1488A>G (p.Lys496=)
|
|
|
|
NM_006939.4(SOS2):c.1491A>T (p.Ile497=)
|
rs2139629111
|
|
|
NM_006939.4(SOS2):c.1499G>C (p.Cys500Ser)
|
|
|
|
NM_006939.4(SOS2):c.1508A>T (p.Glu503Val)
|
|
|
|
NM_006939.4(SOS2):c.1515T>C (p.Thr505=)
|
rs1345455743
|
|
|
NM_006939.4(SOS2):c.1540T>C (p.Leu514=)
|
|
|
|
NM_006939.4(SOS2):c.1564A>G (p.Ile522Val)
|
|
|
|
NM_006939.4(SOS2):c.1593A>G (p.Glu531=)
|
rs1414010933
|
|
|
NM_006939.4(SOS2):c.15G>A (p.Pro5=)
|
|
|
|
NM_006939.4(SOS2):c.1609G>T (p.Ala537Ser)
|
rs748632850
|
|
|
NM_006939.4(SOS2):c.1614C>A (p.Ala538=)
|
|
|
|
NM_006939.4(SOS2):c.1642C>T (p.Leu548=)
|
|
|
|
NM_006939.4(SOS2):c.1648C>A (p.Arg550=)
|
rs1344304906
|
|
|
NM_006939.4(SOS2):c.1662A>G (p.Ser554=)
|
|
|
|
NM_006939.4(SOS2):c.1766A>G (p.Asn589Ser)
|
|
|
|
NM_006939.4(SOS2):c.1767C>T (p.Asn589=)
|
rs1427742827
|
|
|
NM_006939.4(SOS2):c.1815G>T (p.Val605=)
|
rs966907268
|
|
|
NM_006939.4(SOS2):c.1852+11C>T
|
|
|
|
NM_006939.4(SOS2):c.1852+15T>C
|
|
|
|
NM_006939.4(SOS2):c.1884A>C (p.Thr628=)
|
rs781172817
|
|
|
NM_006939.4(SOS2):c.1884A>G (p.Thr628=)
|
|
|
|
NM_006939.4(SOS2):c.1932A>G (p.Glu644=)
|
|
|
|
NM_006939.4(SOS2):c.1934+11T>G
|
rs375487320
|
|
|
NM_006939.4(SOS2):c.1934+19del
|
|
|
|
NM_006939.4(SOS2):c.1935-19C>A
|
|
|
|
NM_006939.4(SOS2):c.1935-6T>C
|
|
|
|
NM_006939.4(SOS2):c.1961C>T (p.Thr654Ile)
|
|
|
|
NM_006939.4(SOS2):c.1965C>T (p.Asp655=)
|
|
|
|
NM_006939.4(SOS2):c.1981A>G (p.Ile661Val)
|
rs1460978115
|
|
|
NM_006939.4(SOS2):c.1983A>T (p.Ile661=)
|
|
|
|
NM_006939.4(SOS2):c.2005A>G (p.Ser669Gly)
|
|
|
|
NM_006939.4(SOS2):c.2007T>C (p.Ser669=)
|
rs577622341
|
|
|
NM_006939.4(SOS2):c.2022A>G (p.Arg674=)
|
|
|
|
NM_006939.4(SOS2):c.2034A>G (p.Glu678=)
|
|
|
|
NM_006939.4(SOS2):c.2046A>G (p.Pro682=)
|
rs2139618438
|
|
|
NM_006939.4(SOS2):c.204A>G (p.Gln68=)
|
|
|
|
NM_006939.4(SOS2):c.2057+12A>G
|
|
|
|
NM_006939.4(SOS2):c.2057+19_2057+20insA
|
|
|
|
NM_006939.4(SOS2):c.2057+20T>G
|
|
|
|
NM_006939.4(SOS2):c.2057+20_2057+22del
|
|
|
|
NM_006939.4(SOS2):c.2058-10A>G
|
rs1303671107
|
|
|
NM_006939.4(SOS2):c.2058-29_2058-10dup
|
|
|
|
NM_006939.4(SOS2):c.2058-4T>A
|
|
|
|
NM_006939.4(SOS2):c.2076G>A (p.Arg692=)
|
|
|
|
NM_006939.4(SOS2):c.2094T>C (p.His698=)
|
|
|
|
NM_006939.4(SOS2):c.20C>G (p.Pro7Arg)
|
|
|
|
NM_006939.4(SOS2):c.2106T>C (p.Phe702=)
|
|
|
|
NM_006939.4(SOS2):c.2109A>G (p.Glu703=)
|
|
|
|
NM_006939.4(SOS2):c.2118G>A (p.Leu706=)
|
rs2139604401
|
|
|
NM_006939.4(SOS2):c.213+10A>G
|
rs1785709173
|
|
|
NM_006939.4(SOS2):c.213+18A>C
|
rs143888968
|
|
|
NM_006939.4(SOS2):c.213+20T>G
|
|
|
|
NM_006939.4(SOS2):c.213+7A>G
|
|
|
|
NM_006939.4(SOS2):c.2136A>G (p.Leu712=)
|
|
|
|
NM_006939.4(SOS2):c.2137G>C (p.Glu713Gln)
|
rs534384816
|
|
|
NM_006939.4(SOS2):c.214-20G>A
|
|
|
|
NM_006939.4(SOS2):c.214-20G>T
|
|
|
|
NM_006939.4(SOS2):c.214-9A>G
|
|
|
|
NM_006939.4(SOS2):c.214-9A>T
|
|
|
|
NM_006939.4(SOS2):c.2155G>A (p.Val719Ile)
|
|
|
|
NM_006939.4(SOS2):c.2161+16G>T
|
|
|
|
NM_006939.4(SOS2):c.2161+16del
|
rs780462582
|
|
|
NM_006939.4(SOS2):c.2161+19del
|
rs1555369697
|
|
|
NM_006939.4(SOS2):c.2162-10C>G
|
|
|
|
NM_006939.4(SOS2):c.2162-12T>C
|
|
|
|
NM_006939.4(SOS2):c.2162-15G>A
|
|
|
|
NM_006939.4(SOS2):c.2162-18T>C
|
|
|
|
NM_006939.4(SOS2):c.2162-6T>A
|
|
|
|
NM_006939.4(SOS2):c.2190A>C (p.Ser730=)
|
|
|
|
NM_006939.4(SOS2):c.2203A>G (p.Ile735Val)
|
|
|
|
NM_006939.4(SOS2):c.2214G>A (p.Lys738=)
|
|
|
|
NM_006939.4(SOS2):c.2217G>A (p.Lys739=)
|
rs186110427
|
|
|
NM_006939.4(SOS2):c.2243A>G (p.His748Arg)
|
|
|
|
NM_006939.4(SOS2):c.2262T>C (p.Ser754=)
|
|
|
|
NM_006939.4(SOS2):c.2268T>G (p.Pro756=)
|
rs1555369534
|
|
|
NM_006939.4(SOS2):c.2276T>C (p.Ile759Thr)
|
|
|
|
NM_006939.4(SOS2):c.230C>G (p.Thr77Ser)
|
rs565261873
|
|
|
NM_006939.4(SOS2):c.2313A>G (p.Thr771=)
|
|
|
|
NM_006939.4(SOS2):c.2322C>G (p.Leu774=)
|
rs781235783
|
|
|
NM_006939.4(SOS2):c.2328A>T (p.Thr776=)
|
rs116162949
|
|
|
NM_006939.4(SOS2):c.2329C>T (p.Leu777Phe)
|
rs151074097
|
|
|
NM_006939.4(SOS2):c.2337A>G (p.Pro779=)
|
|
|
|
NM_006939.4(SOS2):c.2356C>T (p.Leu786=)
|
rs1884611451
|
|
|
NM_006939.4(SOS2):c.2361A>G (p.Thr787=)
|
|
|
|
NM_006939.4(SOS2):c.237T>A (p.Pro79=)
|
|
|
|
NM_006939.4(SOS2):c.2384+10_2384+13del
|
|
|
|
NM_006939.4(SOS2):c.2384+16_2384+21del
|
rs750693332
|
|
|
NM_006939.4(SOS2):c.2384+20G>T
|
|
|
|
NM_006939.4(SOS2):c.2385-19C>T
|
|
|
|
NM_006939.4(SOS2):c.2385-4A>G
|
|
|
|
NM_006939.4(SOS2):c.2394A>G (p.Gln798=)
|
|
|
|
NM_006939.4(SOS2):c.2397G>A (p.Pro799=)
|
rs770022419
|
|
|
NM_006939.4(SOS2):c.2406T>C (p.Leu802=)
|
|
|
|
NM_006939.4(SOS2):c.2442A>C (p.Ile814=)
|
|
|
|
NM_006939.4(SOS2):c.2472C>A (p.Arg824=)
|
|
|
|
NM_006939.4(SOS2):c.2493C>T (p.Leu831=)
|
|
|
|
NM_006939.4(SOS2):c.2504+15A>T
|
|
|
|
NM_006939.4(SOS2):c.2505-11G>A
|
|
|
|
NM_006939.4(SOS2):c.2505-8G>A
|
|
|
|
NM_006939.4(SOS2):c.2510T>C (p.Ile837Thr)
|
|
|
|
NM_006939.4(SOS2):c.252A>G (p.Lys84=)
|
|
|
|
NM_006939.4(SOS2):c.2574A>G (p.Gln858=)
|
|
|
|
NM_006939.4(SOS2):c.2586T>C (p.Asp862=)
|
rs1594969928
|
|
|
NM_006939.4(SOS2):c.2661C>G (p.Thr887=)
|
|
|
|
NM_006939.4(SOS2):c.2667+14T>C
|
|
|
|
NM_006939.4(SOS2):c.2667+16A>G
|
|
|
|
NM_006939.4(SOS2):c.2667+20T>G
|
|
|
|
NM_006939.4(SOS2):c.2668-11_2668-9dup
|
|
|
|
NM_006939.4(SOS2):c.2668-18A>G
|
|
|
|
NM_006939.4(SOS2):c.2668-19A>G
|
|
|
|
NM_006939.4(SOS2):c.2668-19A>T
|
|
|
|
NM_006939.4(SOS2):c.2668-20C>G
|
|
|
|
NM_006939.4(SOS2):c.2668-20C>T
|
|
|
|
NM_006939.4(SOS2):c.2671C>T (p.Leu891=)
|
rs2139556792
|
|
|
NM_006939.4(SOS2):c.2701G>A (p.Glu901Lys)
|
rs556373963
|
|
|
NM_006939.4(SOS2):c.2740C>T (p.Leu914=)
|
rs1363925093
|
|
|
NM_006939.4(SOS2):c.2766A>T (p.Pro922=)
|
|
|
|
NM_006939.4(SOS2):c.2785+13A>T
|
|
|
|
NM_006939.4(SOS2):c.2785+14T>C
|
|
|
|
NM_006939.4(SOS2):c.2785+9C>G
|
rs2139556419
|
|
|
NM_006939.4(SOS2):c.2786-13T>C
|
|
|
|
NM_006939.4(SOS2):c.2786-16_2786-15insG
|
|
|
|
NM_006939.4(SOS2):c.2786-18_2786-17dup
|
rs201957103
|
|
|
NM_006939.4(SOS2):c.2814C>T (p.Thr938=)
|
|
|
|
NM_006939.4(SOS2):c.2853A>G (p.Lys951=)
|
|
|
|
NM_006939.4(SOS2):c.2880G>A (p.Arg960=)
|
|
|
|
NM_006939.4(SOS2):c.288A>G (p.Lys96=)
|
|
|
|
NM_006939.4(SOS2):c.2895T>C (p.Ile965=)
|
|
|
|
NM_006939.4(SOS2):c.2898T>G (p.Thr966=)
|
|
|
|
NM_006939.4(SOS2):c.2958+12C>T
|
|
|
|
NM_006939.4(SOS2):c.2958+9T>C
|
|
|
|
NM_006939.4(SOS2):c.2959-12_2959-9del
|
rs780266222
|
|
|
NM_006939.4(SOS2):c.2959-15T>C
|
|
|
|
NM_006939.4(SOS2):c.2959-19G>T
|
|
|
|
NM_006939.4(SOS2):c.2959-20T>G
|
rs375042033
|
|
|
NM_006939.4(SOS2):c.2959-4C>A
|
|
|
|
NM_006939.4(SOS2):c.2971A>G (p.Asn991Asp)
|
|
|
|
NM_006939.4(SOS2):c.2982C>T (p.Pro994=)
|
rs1432970491
|
|
|
NM_006939.4(SOS2):c.2997T>C (p.Ser999=)
|
|
|
|
NM_006939.4(SOS2):c.3003A>G (p.Lys1001=)
|
rs546284255
|
|
|
NM_006939.4(SOS2):c.3006G>A (p.Glu1002=)
|
|
|
|
NM_006939.4(SOS2):c.3075+11dup
|
|
|
|
NM_006939.4(SOS2):c.3075+13T>C
|
rs2139528519
|
|
|
NM_006939.4(SOS2):c.3075+20G>A
|
|
|
|
NM_006939.4(SOS2):c.3076-12T>C
|
rs2139513366
|
|
|
NM_006939.4(SOS2):c.3076-19T>C
|
|
|
|
NM_006939.4(SOS2):c.3076-8T>C
|
|
|
|
NM_006939.4(SOS2):c.3153T>C (p.Thr1051=)
|
|
|
|
NM_006939.4(SOS2):c.3171A>G (p.Thr1057=)
|
|
|
|
NM_006939.4(SOS2):c.3191G>A (p.Cys1064Tyr)
|
|
|
|
NM_006939.4(SOS2):c.3216T>C (p.Ala1072=)
|
|
|
|
NM_006939.4(SOS2):c.3237A>G (p.Thr1079=)
|
|
|
|
NM_006939.4(SOS2):c.324C>A (p.Asp108Glu)
|
|
|
|
NM_006939.4(SOS2):c.3277C>G (p.Pro1093Ala)
|
|
|
|
NM_006939.4(SOS2):c.330C>A (p.Ile110=)
|
|
|
|
NM_006939.4(SOS2):c.3327C>T (p.Asn1109=)
|
|
|
|
NM_006939.4(SOS2):c.3337+10T>C
|
|
|
|
NM_006939.4(SOS2):c.3337+17_3337+18dup
|
|
|
|
NM_006939.4(SOS2):c.3338-8del
|
rs2139510301
|
|
|
NM_006939.4(SOS2):c.333T>C (p.His111=)
|
|
|
|
NM_006939.4(SOS2):c.3348C>T (p.Ser1116=)
|
|
|
|
NM_006939.4(SOS2):c.3360A>C (p.Pro1120=)
|
rs147513220
|
|
|
NM_006939.4(SOS2):c.3379+11T>C
|
|
|
|
NM_006939.4(SOS2):c.3379+17T>C
|
|
|
|
NM_006939.4(SOS2):c.3379+7A>G
|
|
|
|
NM_006939.4(SOS2):c.3380-10T>C
|
|
|
|
NM_006939.4(SOS2):c.3384T>G (p.Ser1128=)
|
|
|
|
NM_006939.4(SOS2):c.3390T>C (p.Phe1130=)
|
|
|
|
NM_006939.4(SOS2):c.3396A>C (p.Ser1132=)
|
|
|
|
NM_006939.4(SOS2):c.3447T>G (p.Leu1149=)
|
|
|
|
NM_006939.4(SOS2):c.345+7A>G
|
|
|
|
NM_006939.4(SOS2):c.346-10_346-8del
|
|
|
|
NM_006939.4(SOS2):c.346-11T>C
|
|
|
|
NM_006939.4(SOS2):c.346-21_346-17del
|
|
|
|
NM_006939.4(SOS2):c.346-5C>T
|
|
|
|
NM_006939.4(SOS2):c.346-6T>A
|
|
|
|
NM_006939.4(SOS2):c.3470A>G (p.His1157Arg)
|
|
|
|
NM_006939.4(SOS2):c.3489+18A>G
|
|
|
|
NM_006939.4(SOS2):c.3489+8del
|
|
|
|
NM_006939.4(SOS2):c.348A>G (p.Glu116=)
|
|
|
|
NM_006939.4(SOS2):c.3490-10_3490-9insC
|
|
|
|
NM_006939.4(SOS2):c.3490-14dup
|
|
|
|
NM_006939.4(SOS2):c.3490-18A>G
|
|
|
|
NM_006939.4(SOS2):c.3490-18del
|
rs1302818165
|
|
|
NM_006939.4(SOS2):c.3501A>G (p.Lys1167=)
|
|
|
|
NM_006939.4(SOS2):c.3521C>T (p.Ala1174Val)
|
|
|
|
NM_006939.4(SOS2):c.3540T>G (p.Pro1180=)
|
rs1052780824
|
|
|
NM_006939.4(SOS2):c.3543T>C (p.Pro1181=)
|
|
|
|
NM_006939.4(SOS2):c.3584C>T (p.Ala1195Val)
|
rs753151750
|
|
|
NM_006939.4(SOS2):c.3588T>C (p.Phe1196=)
|
rs768208805
|
|
|
NM_006939.4(SOS2):c.3598C>T (p.Leu1200=)
|
|
|
|
NM_006939.4(SOS2):c.3624A>G (p.Pro1208=)
|
|
|
|
NM_006939.4(SOS2):c.3632C>T (p.Pro1211Leu)
|
|
|
|
NM_006939.4(SOS2):c.3645C>G (p.Thr1215=)
|
|
|
|
NM_006939.4(SOS2):c.3663T>G (p.Leu1221=)
|
|
|
|
NM_006939.4(SOS2):c.3672A>C (p.Pro1224=)
|
|
|
|
NM_006939.4(SOS2):c.3681T>C (p.Phe1227=)
|
|
|
|
NM_006939.4(SOS2):c.3682A>G (p.Ile1228Val)
|
|
|
|
NM_006939.4(SOS2):c.3684A>T (p.Ile1228=)
|
|
|
|
NM_006939.4(SOS2):c.3708A>G (p.Pro1236=)
|
|
|
|
NM_006939.4(SOS2):c.3714A>T (p.Pro1238=)
|
|
|
|
NM_006939.4(SOS2):c.3747C>T (p.Leu1249=)
|
|
|
|
NM_006939.4(SOS2):c.3755_3757del (p.Ile1252del)
|
rs775506222
|
|
|
NM_006939.4(SOS2):c.3758G>A (p.Ser1253Asn)
|
|
|
|
NM_006939.4(SOS2):c.375T>C (p.His125=)
|
|
|
|
NM_006939.4(SOS2):c.3761C>T (p.Thr1254Met)
|
|
|
|
NM_006939.4(SOS2):c.3762G>A (p.Thr1254=)
|
rs769536087
|
|
|
NM_006939.4(SOS2):c.3772T>G (p.Ser1258Ala)
|
rs1344396759
|
|
|
NM_006939.4(SOS2):c.3773C>T (p.Ser1258Leu)
|
|
|
|
NM_006939.4(SOS2):c.3779G>A (p.Ser1260Asn)
|
|
|
|
NM_006939.4(SOS2):c.3798C>G (p.Pro1266=)
|
rs1271341173
|
|
|
NM_006939.4(SOS2):c.3810A>G (p.Val1270=)
|
|
|
|
NM_006939.4(SOS2):c.3812C>T (p.Pro1271Leu)
|
|
|
|
NM_006939.4(SOS2):c.3813G>C (p.Pro1271=)
|
rs2227276
|
|
|
NM_006939.4(SOS2):c.3813G>T (p.Pro1271=)
|
|
|
|
NM_006939.4(SOS2):c.381C>T (p.Ser127=)
|
|
|
|
NM_006939.4(SOS2):c.3837T>C (p.Ser1279=)
|
|
|
|
NM_006939.4(SOS2):c.3849T>C (p.Asn1283=)
|
|
|
|
NM_006939.4(SOS2):c.3901C>T (p.His1301Tyr)
|
|
|
|
NM_006939.4(SOS2):c.3935G>A (p.Arg1312Gln)
|
|
|
|
NM_006939.4(SOS2):c.3951C>G (p.Pro1317=)
|
|
|
|
NM_006939.4(SOS2):c.3951C>T (p.Pro1317=)
|
|
|
|
NM_006939.4(SOS2):c.3975A>G (p.Leu1325=)
|
|
|
|
NM_006939.4(SOS2):c.3996A>G (p.Gln1332=)
|
|
|
|
NM_006939.4(SOS2):c.399A>C (p.Val133=)
|
rs144584870
|
|
|
NM_006939.4(SOS2):c.399A>G (p.Val133=)
|
rs144584870
|
|
|
NM_006939.4(SOS2):c.399A>T (p.Val133=)
|
|
|
|
NM_006939.4(SOS2):c.405G>A (p.Glu135=)
|
rs754980356
|
|
|
NM_006939.4(SOS2):c.432G>A (p.Leu144=)
|
rs1051166055
|
|
|
NM_006939.4(SOS2):c.453T>C (p.Asn151=)
|
rs2139778987
|
|
|
NM_006939.4(SOS2):c.459G>A (p.Arg153=)
|
|
|
|
NM_006939.4(SOS2):c.465T>C (p.Tyr155=)
|
|
|
|
NM_006939.4(SOS2):c.483C>T (p.Asp161=)
|
|
|
|
NM_006939.4(SOS2):c.489A>G (p.Lys163=)
|
|
|
|
NM_006939.4(SOS2):c.510+11C>A
|
rs113890555
|
|
|
NM_006939.4(SOS2):c.510+15G>A
|
rs1359205719
|
|
|
NM_006939.4(SOS2):c.510+15G>T
|
|
|
|
NM_006939.4(SOS2):c.510+16del
|
|
|
|
NM_006939.4(SOS2):c.511-11C>T
|
rs2139734747
|
|
|
NM_006939.4(SOS2):c.511-16G>A
|
|
|
|
NM_006939.4(SOS2):c.511-17T>A
|
|
|
|
NM_006939.4(SOS2):c.511-20T>C
|
|
|
|
NM_006939.4(SOS2):c.511-24_511-18del
|
|
|
|
NM_006939.4(SOS2):c.511-8T>C
|
|
|
|
NM_006939.4(SOS2):c.546T>A (p.Gly182=)
|
|
|
|
NM_006939.4(SOS2):c.550G>C (p.Val184Leu)
|
|
|
|
NM_006939.4(SOS2):c.567T>C (p.Asp189=)
|
|
|
|
NM_006939.4(SOS2):c.609C>T (p.Val203=)
|
|
|
|
NM_006939.4(SOS2):c.642A>C (p.Leu214=)
|
rs2139734016
|
|
|
NM_006939.4(SOS2):c.67T>C (p.Leu23=)
|
|
|
|
NM_006939.4(SOS2):c.693T>C (p.Asp231=)
|
rs2139733831
|
|
|
NM_006939.4(SOS2):c.708A>G (p.Lys236=)
|
|
|
|
NM_006939.4(SOS2):c.714+12T>C
|
|
|
|
NM_006939.4(SOS2):c.714+9C>T
|
|
|
|
NM_006939.4(SOS2):c.715-15C>T
|
rs2139710269
|
|
|
NM_006939.4(SOS2):c.715-15_715-12del
|
|
|
|
NM_006939.4(SOS2):c.715-4T>A
|
|
|
|
NM_006939.4(SOS2):c.72C>A (p.Val24=)
|
|
|
|
NM_006939.4(SOS2):c.744A>G (p.Ser248=)
|
rs2139710078
|
|
|
NM_006939.4(SOS2):c.757T>C (p.Leu253=)
|
|
|
|
NM_006939.4(SOS2):c.843T>C (p.Phe281=)
|
rs2139709667
|
|
|
NM_006939.4(SOS2):c.846A>G (p.Glu282=)
|
rs776312082
|
|
|
NM_006939.4(SOS2):c.849T>C (p.Asp283=)
|
|
|
|
NM_006939.4(SOS2):c.852G>A (p.Leu284=)
|
|
|
|
NM_006939.4(SOS2):c.858+12A>C
|
|
|
|
NM_006939.4(SOS2):c.858+12A>G
|
rs1318750223
|
|
|
NM_006939.4(SOS2):c.858+19T>A
|
rs780544622
|
|
|
NM_006939.4(SOS2):c.858+20T>C
|
|
|
|
NM_006939.4(SOS2):c.859-16_859-15del
|
|
|
|
NM_006939.4(SOS2):c.859-19T>A
|
|
|
|
NM_006939.4(SOS2):c.859-19T>C
|
rs1435577590
|
|
|
NM_006939.4(SOS2):c.864A>G (p.Gln288=)
|
|
|
|
NM_006939.4(SOS2):c.87+11G>A
|
|
|
|
NM_006939.4(SOS2):c.87+18G>A
|
|
|
|
NM_006939.4(SOS2):c.88-14dup
|
rs779198092
|
|
|
NM_006939.4(SOS2):c.88-16T>C
|
|
|
|
NM_006939.4(SOS2):c.88-19T>C
|
|
|
|
NM_006939.4(SOS2):c.88-19T>G
|
|
|
|
NM_006939.4(SOS2):c.88-8T>C
|
|
|
|
NM_006939.4(SOS2):c.88-9T>G
|
|
|
|
NM_006939.4(SOS2):c.894G>A (p.Gln298=)
|
rs1477278734
|
|
|
NM_006939.4(SOS2):c.917A>G (p.His306Arg)
|
|
|
|
NM_006939.4(SOS2):c.942C>G (p.Ala314=)
|
|
|
|
NM_006939.4(SOS2):c.958C>G (p.Leu320Val)
|
|
|
|
NM_006939.4(SOS2):c.969+18G>T
|
|
|
|
NM_006939.4(SOS2):c.969+18dup
|
|
|
|
NM_006939.4(SOS2):c.969+19T>G
|
|
|
|
NM_006939.4(SOS2):c.970-15C>A
|
|
|
|
NM_006939.4(SOS2):c.970-15C>G
|
|
|
|
NM_006939.4(SOS2):c.970-16T>C
|
|
|
|
NM_006939.4(SOS2):c.99A>G (p.Gln33=)
|
|
|
|
NM_012082.4(ZFPM2):c.1038C>T (p.Ser346=)
|
|
|
|
NM_012082.4(ZFPM2):c.1110C>T (p.Phe370=)
|
rs755422326
|
|
|
NM_012082.4(ZFPM2):c.1155T>C (p.His385=)
|
|
|
|
NM_012082.4(ZFPM2):c.1254C>T (p.Ser418=)
|
|
|
|
NM_012082.4(ZFPM2):c.130G>A (p.Glu44Lys)
|
rs569356297
|
|
|
NM_012082.4(ZFPM2):c.1492C>T (p.Leu498=)
|
|
|
|
NM_012082.4(ZFPM2):c.1494A>G (p.Leu498=)
|
rs2131177786
|
|
|
NM_012082.4(ZFPM2):c.1620C>T (p.Tyr540=)
|
rs1186450406
|
|
|
NM_012082.4(ZFPM2):c.1641G>A (p.Gly547=)
|
rs1586284129
|
|
|
NM_012082.4(ZFPM2):c.1710T>C (p.Tyr570=)
|
rs2131178493
|
|
|
NM_012082.4(ZFPM2):c.1894T>C (p.Leu632=)
|
rs2131179002
|
|
|
NM_012082.4(ZFPM2):c.1947A>G (p.Gln649=)
|
|
|
|
NM_012082.4(ZFPM2):c.2286C>T (p.Asp762=)
|
|
|
|
NM_012082.4(ZFPM2):c.2328C>T (p.Pro776=)
|
|
|
|
NM_012082.4(ZFPM2):c.2355C>T (p.His785=)
|
|
|
|
NM_012082.4(ZFPM2):c.2562C>T (p.His854=)
|
|
|
|
NM_012082.4(ZFPM2):c.261G>A (p.Pro87=)
|
|
|
|
NM_012082.4(ZFPM2):c.261G>T (p.Pro87=)
|
rs755810063
|
|
|
NM_012082.4(ZFPM2):c.2712C>T (p.Ser904=)
|
rs2131181789
|
|
|
NM_012082.4(ZFPM2):c.2910A>T (p.Gly970=)
|
|
|
|
NM_012082.4(ZFPM2):c.3014A>G (p.Glu1005Gly)
|
|
|
|
NM_012082.4(ZFPM2):c.302-4G>A
|
rs372818742
|
|
|
NM_012082.4(ZFPM2):c.3213C>T (p.Asp1071=)
|
|
|
|
NM_012082.4(ZFPM2):c.3303G>A (p.Leu1101=)
|
|
|
|
NM_012082.4(ZFPM2):c.3366G>C (p.Arg1122=)
|
|
|
|
NM_012082.4(ZFPM2):c.40+11G>C
|
|
|
|
NM_012082.4(ZFPM2):c.420+15C>T
|
|
|
|
NM_012082.4(ZFPM2):c.420+16G>A
|
|
|
|
NM_012082.4(ZFPM2):c.495G>A (p.Val165=)
|
|
|
|
NM_012082.4(ZFPM2):c.564C>T (p.Ala188=)
|
|
|
|
NM_012082.4(ZFPM2):c.78A>G (p.Glu26=)
|
|
|
|
NM_012082.4(ZFPM2):c.873C>A (p.Ala291=)
|
|
|
|
NM_012082.4(ZFPM2):c.90G>A (p.Glu30=)
|
|
|
|
NM_013266.4(CTNNA3):c.1048-19C>T
|
rs367593058
|
|
|
NM_013266.4(CTNNA3):c.1095C>T (p.Asn365=)
|
|
|
|
NM_013266.4(CTNNA3):c.1128+14G>A
|
|
|
|
NM_013266.4(CTNNA3):c.1128+16G>C
|
|
|
|
NM_013266.4(CTNNA3):c.1128+8A>C
|
|
|
|
NM_013266.4(CTNNA3):c.1129-11T>C
|
|
|
|
NM_013266.4(CTNNA3):c.1129-18T>C
|
|
|
|
NM_013266.4(CTNNA3):c.1152T>C (p.His384=)
|
|
|
|
NM_013266.4(CTNNA3):c.1179A>G (p.Thr393=)
|
|
|
|
NM_013266.4(CTNNA3):c.1182C>T (p.Val394=)
|
rs927559123
|
|
|
NM_013266.4(CTNNA3):c.1236A>G (p.Lys412=)
|
rs150167695
|
|
|
NM_013266.4(CTNNA3):c.1242T>C (p.Tyr414=)
|
|
|
|
NM_013266.4(CTNNA3):c.1281+14A>G
|
|
|
|
NM_013266.4(CTNNA3):c.1282-13G>C
|
rs1333654338
|
|
|
NM_013266.4(CTNNA3):c.1282-4T>G
|
|
|
|
NM_013266.4(CTNNA3):c.1365G>A (p.Leu455=)
|
rs1173333011
|
|
|
NM_013266.4(CTNNA3):c.1374+10C>A
|
|
|
|
NM_013266.4(CTNNA3):c.1374+12_1374+13del
|
|
|
|
NM_013266.4(CTNNA3):c.1374+14G>C
|
|
|
|
NM_013266.4(CTNNA3):c.1374+9A>G
|
|
|
|
NM_013266.4(CTNNA3):c.1386T>G (p.Ala462=)
|
|
|
|
NM_013266.4(CTNNA3):c.1401T>A (p.Ala467=)
|
|
|
|
NM_013266.4(CTNNA3):c.1422G>T (p.Ala474=)
|
|
|
|
NM_013266.4(CTNNA3):c.1455A>C (p.Thr485=)
|
|
|
|
NM_013266.4(CTNNA3):c.1455A>G (p.Thr485=)
|
rs573782659
|
|
|
NM_013266.4(CTNNA3):c.150A>G (p.Gly50=)
|
|
|
|
NM_013266.4(CTNNA3):c.1524T>A (p.Ala508=)
|
|
|
|
NM_013266.4(CTNNA3):c.1531+12T>A
|
rs2132020695
|
|
|
NM_013266.4(CTNNA3):c.1532-7C>T
|
rs1465457123
|
|
|
NM_013266.4(CTNNA3):c.1536C>T (p.Ser512=)
|
rs1060504519
|
|
|
NM_013266.4(CTNNA3):c.1560G>A (p.Lys520=)
|
|
|
|
NM_013266.4(CTNNA3):c.156G>A (p.Ser52=)
|
rs61759502
|
|
|
NM_013266.4(CTNNA3):c.1611G>T (p.Ala537=)
|
|
|
|
NM_013266.4(CTNNA3):c.1614T>C (p.Gly538=)
|
rs2092818203
|
|
|
NM_013266.4(CTNNA3):c.1617T>C (p.Ala539=)
|
rs2132488633
|
|
|
NM_013266.4(CTNNA3):c.1620C>T (p.Ile540=)
|
|
|
|
NM_013266.4(CTNNA3):c.1710T>C (p.Asn570=)
|
|
|
|
NM_013266.4(CTNNA3):c.1732+16A>C
|
rs775638559
|
|
|
NM_013266.4(CTNNA3):c.1732+16A>G
|
|
|
|
NM_013266.4(CTNNA3):c.1732+20C>G
|
|
|
|
NM_013266.4(CTNNA3):c.1733-20C>T
|
rs2091476722
|
|
|
NM_013266.4(CTNNA3):c.177A>G (p.Leu59=)
|
rs1564778448
|
|
|
NM_013266.4(CTNNA3):c.1792T>C (p.Leu598=)
|
rs187527391
|
|
|
NM_013266.4(CTNNA3):c.1836G>A (p.Lys612=)
|
rs774209973
|
|
|
NM_013266.4(CTNNA3):c.1884+20C>T
|
|
|
|
NM_013266.4(CTNNA3):c.1884+9G>A
|
rs2132158477
|
|
|
NM_013266.4(CTNNA3):c.1885-11T>C
|
|
|
|
NM_013266.4(CTNNA3):c.1885-12T>G
|
|
|
|
NM_013266.4(CTNNA3):c.1885-19T>C
|
|
|
|
NM_013266.4(CTNNA3):c.1885-7T>C
|
|
|
|
NM_013266.4(CTNNA3):c.1897C>T (p.Leu633=)
|
rs2081724004
|
|
|
NM_013266.4(CTNNA3):c.1953T>C (p.Ile651=)
|
|
|
|
NM_013266.4(CTNNA3):c.1959C>A (p.Thr653=)
|
|
|
|
NM_013266.4(CTNNA3):c.1971T>A (p.Thr657=)
|
|
|
|
NM_013266.4(CTNNA3):c.1977+12C>G
|
|
|
|
NM_013266.4(CTNNA3):c.1977+9C>T
|
|
|
|
NM_013266.4(CTNNA3):c.1978-17A>C
|
|
|
|
NM_013266.4(CTNNA3):c.1978-7G>A
|
rs1466748500
|
|
|
NM_013266.4(CTNNA3):c.2097C>T (p.Asn699=)
|
|
|
|
NM_013266.4(CTNNA3):c.216G>A (p.Lys72=)
|
|
|
|
NM_013266.4(CTNNA3):c.2172A>G (p.Pro724=)
|
rs116662854
|
|
|
NM_013266.4(CTNNA3):c.2184A>G (p.Thr728=)
|
|
|
|
NM_013266.4(CTNNA3):c.2199T>C (p.Tyr733=)
|
|
|
|
NM_013266.4(CTNNA3):c.2248C>A (p.Arg750=)
|
|
|
|
NM_013266.4(CTNNA3):c.225G>A (p.Lys75=)
|
|
|
|
NM_013266.4(CTNNA3):c.2271A>G (p.Pro757=)
|
rs372746141
|
|
|
NM_013266.4(CTNNA3):c.2283T>C (p.Cys761=)
|
|
|
|
NM_013266.4(CTNNA3):c.2334A>G (p.Gln778=)
|
|
|
|
NM_013266.4(CTNNA3):c.2400+13T>C
|
|
|
|
NM_013266.4(CTNNA3):c.2400+18C>G
|
|
|
|
NM_013266.4(CTNNA3):c.2401-18T>C
|
|
|
|
NM_013266.4(CTNNA3):c.2409T>C (p.Ser803=)
|
|
|
|
NM_013266.4(CTNNA3):c.2415A>G (p.Thr805=)
|
|
|
|
NM_013266.4(CTNNA3):c.2427A>G (p.Gln809=)
|
rs2077068960
|
|
|
NM_013266.4(CTNNA3):c.243A>C (p.Thr81=)
|
|
|
|
NM_013266.4(CTNNA3):c.2460A>G (p.Gln820=)
|
rs2133106495
|
|
|
NM_013266.4(CTNNA3):c.2478C>T (p.Tyr826=)
|
|
|
|
NM_013266.4(CTNNA3):c.24A>G (p.Thr8=)
|
rs1454649034
|
|
|
NM_013266.4(CTNNA3):c.2532A>G (p.Pro844=)
|
rs2133106045
|
|
|
NM_013266.4(CTNNA3):c.2572T>C (p.Leu858=)
|
rs2133105821
|
|
|
NM_013266.4(CTNNA3):c.2617C>A (p.Arg873=)
|
rs761449098
|
|
|
NM_013266.4(CTNNA3):c.2670A>G (p.Arg890=)
|
rs1589129191
|
|
|
NM_013266.4(CTNNA3):c.292+19G>A
|
|
|
|
NM_013266.4(CTNNA3):c.292+19G>T
|
|
|
|
NM_013266.4(CTNNA3):c.293-20T>C
|
|
|
|
NM_013266.4(CTNNA3):c.36T>C (p.Asp12=)
|
rs2133482257
|
|
|
NM_013266.4(CTNNA3):c.378T>C (p.Arg126=)
|
rs2133202953
|
|
|
NM_013266.4(CTNNA3):c.405C>T (p.Leu135=)
|
rs769989476
|
|
|
NM_013266.4(CTNNA3):c.420C>T (p.Asp140=)
|
rs1309070227
|
|
|
NM_013266.4(CTNNA3):c.459+17_459+31del
|
|
|
|
NM_013266.4(CTNNA3):c.459+19A>G
|
|
|
|
NM_013266.4(CTNNA3):c.459+8A>G
|
|
|
|
NM_013266.4(CTNNA3):c.460-4T>G
|
|
|
|
NM_013266.4(CTNNA3):c.480T>A (p.Ser160=)
|
rs766602512
|
|
|
NM_013266.4(CTNNA3):c.489T>C (p.Asn163=)
|
rs2133159494
|
|
|
NM_013266.4(CTNNA3):c.510C>A (p.Leu170=)
|
|
|
|
NM_013266.4(CTNNA3):c.519C>T (p.Thr173=)
|
|
|
|
NM_013266.4(CTNNA3):c.573T>C (p.Arg191=)
|
|
|
|
NM_013266.4(CTNNA3):c.580-14A>C
|
rs1864571588
|
|
|
NM_013266.4(CTNNA3):c.580-16T>C
|
|
|
|
NM_013266.4(CTNNA3):c.580-20del
|
|
|
|
NM_013266.4(CTNNA3):c.60A>G (p.Thr20=)
|
|
|
|
NM_013266.4(CTNNA3):c.633G>A (p.Leu211=)
|
rs2132265590
|
|
|
NM_013266.4(CTNNA3):c.654G>A (p.Leu218=)
|
|
|
|
NM_013266.4(CTNNA3):c.699C>G (p.Ser233=)
|
rs1245665500
|
|
|
NM_013266.4(CTNNA3):c.6A>G (p.Ser2=)
|
|
|
|
NM_013266.4(CTNNA3):c.6A>T (p.Ser2=)
|
|
|
|
NM_013266.4(CTNNA3):c.777C>A (p.Ile259=)
|
|
|
|
NM_013266.4(CTNNA3):c.78A>G (p.Leu26=)
|
|
|
|
NM_013266.4(CTNNA3):c.78A>T (p.Leu26=)
|
rs1250437620
|
|
|
NM_013266.4(CTNNA3):c.792C>T (p.Thr264=)
|
|
|
|
NM_013266.4(CTNNA3):c.828C>T (p.Ala276=)
|
rs2132264578
|
|
|
NM_013266.4(CTNNA3):c.843+12G>C
|
rs767324815
|
|
|
NM_013266.4(CTNNA3):c.844-14T>C
|
|
|
|
NM_013266.4(CTNNA3):c.870A>C (p.Thr290=)
|
rs369449859
|
|
|
NM_013266.4(CTNNA3):c.882G>A (p.Glu294=)
|
rs2132138344
|
|
|
NM_013266.4(CTNNA3):c.930G>T (p.Gly310=)
|
rs144152750
|
|
|
NM_013266.4(CTNNA3):c.951T>C (p.Ser317=)
|
|
|
|
NM_013266.4(CTNNA3):c.954A>G (p.Ser318=)
|
rs1379551332
|
|
|
NM_013266.4(CTNNA3):c.987C>T (p.Ile329=)
|
|
|
|
NM_013266.4(CTNNA3):c.999C>T (p.Asn333=)
|
rs146754105
|
|
|
NM_014000.3(VCL):c.1022+18C>T
|
|
|
|
NM_014000.3(VCL):c.1022+7G>T
|
rs939883303
|
|
|
NM_014000.3(VCL):c.1023-17G>A
|
|
|
|
NM_014000.3(VCL):c.1041G>A (p.Pro347=)
|
|
|
|
NM_014000.3(VCL):c.1047C>T (p.Ala349=)
|
|
|
|
NM_014000.3(VCL):c.1068A>G (p.Val356=)
|
|
|
|
NM_014000.3(VCL):c.1080G>C (p.Leu360=)
|
rs2131907673
|
|
|
NM_014000.3(VCL):c.1092A>G (p.Thr364=)
|
rs1057521557
|
|
|
NM_014000.3(VCL):c.1119G>A (p.Lys373=)
|
|
|
|
NM_014000.3(VCL):c.1120C>T (p.Leu374=)
|
|
|
|
NM_014000.3(VCL):c.1137C>T (p.Asn379=)
|
|
|
|
NM_014000.3(VCL):c.1158G>A (p.Lys386=)
|
|
|
|
NM_014000.3(VCL):c.1176+11T>G
|
|
|
|
NM_014000.3(VCL):c.1176+19_1177-314del
|
rs2131907858
|
|
|
NM_014000.3(VCL):c.1177-16C>G
|
|
|
|
NM_014000.3(VCL):c.1177-19T>C
|
rs2131908607
|
|
|
NM_014000.3(VCL):c.1177-20T>C
|
|
|
|
NM_014000.3(VCL):c.1177-7T>C
|
|
|
|
NM_014000.3(VCL):c.1177-8A>G
|
|
|
|
NM_014000.3(VCL):c.1177-8A>T
|
rs747461057
|
|
|
NM_014000.3(VCL):c.1197T>C (p.Asn399=)
|
rs2131908663
|
|
|
NM_014000.3(VCL):c.1200T>G (p.Gly400=)
|
rs2131908675
|
|
|
NM_014000.3(VCL):c.120C>T (p.Leu40=)
|
rs144080529
|
|
|
NM_014000.3(VCL):c.1225C>A (p.Arg409=)
|
rs202005455
|
|
|
NM_014000.3(VCL):c.1234T>C (p.Leu412=)
|
rs1554817846
|
|
|
NM_014000.3(VCL):c.1245T>C (p.Ala415=)
|
|
|
|
NM_014000.3(VCL):c.1248G>C (p.Arg416=)
|
|
|
|
NM_014000.3(VCL):c.126G>T (p.Ala42=)
|
rs1031820588
|
|
|
NM_014000.3(VCL):c.1272T>C (p.Asp424=)
|
rs1393816882
|
|
|
NM_014000.3(VCL):c.1294C>T (p.Leu432=)
|
rs144146254
|
|
|
NM_014000.3(VCL):c.1296_1297inv (p.Arg433Cys)
|
|
|
|
NM_014000.3(VCL):c.129C>T (p.Pro43=)
|
rs1169961162
|
|
|
NM_014000.3(VCL):c.1308G>A (p.Gly436=)
|
rs878854970
|
|
|
NM_014000.3(VCL):c.1352+13C>T
|
rs2131908937
|
|
|
NM_014000.3(VCL):c.1352+17T>A
|
|
|
|
NM_014000.3(VCL):c.1352+20A>G
|
|
|
|
NM_014000.3(VCL):c.1352+8T>C
|
|
|
|
NM_014000.3(VCL):c.1353-10_1353-9del
|
rs745850822
|
|
|
NM_014000.3(VCL):c.1353-16G>A
|
|
|
|
NM_014000.3(VCL):c.1353-4G>T
|
rs2131914324
|
|
|
NM_014000.3(VCL):c.1353-8C>G
|
rs2131914317
|
|
|
NM_014000.3(VCL):c.135C>T (p.Ala45=)
|
|
|
|
NM_014000.3(VCL):c.1371A>G (p.Pro457=)
|
|
|
|
NM_014000.3(VCL):c.1410G>C (p.Leu470=)
|
|
|
|
NM_014000.3(VCL):c.1416C>T (p.Asn472=)
|
|
|
|
NM_014000.3(VCL):c.1435C>A (p.Arg479=)
|
rs369055603
|
|
|
NM_014000.3(VCL):c.1449C>T (p.Asn483=)
|
|
|
|
NM_014000.3(VCL):c.1482G>A (p.Glu494=)
|
|
|
|
NM_014000.3(VCL):c.1543+13G>A
|
|
|
|
NM_014000.3(VCL):c.1543+14T>C
|
|
|
|
NM_014000.3(VCL):c.1543+17A>G
|
|
|
|
NM_014000.3(VCL):c.1544-15T>C
|
|
|
|
NM_014000.3(VCL):c.1544-20T>C
|
|
|
|
NM_014000.3(VCL):c.1544-6G>A
|
rs1554818318
|
|
|
NM_014000.3(VCL):c.1557C>T (p.Ile519=)
|
|
|
|
NM_014000.3(VCL):c.156C>T (p.Ser52=)
|
rs2136218360
|
|
|
NM_014000.3(VCL):c.1575A>C (p.Glu525Asp)
|
rs548487697
|
|
|
NM_014000.3(VCL):c.1578G>A (p.Gly526=)
|
rs141544441
|
|
|
NM_014000.3(VCL):c.1581T>C (p.His527=)
|
|
|
|
NM_014000.3(VCL):c.1641A>G (p.Arg547=)
|
rs1246258740
|
|
|
NM_014000.3(VCL):c.165C>A (p.Val55=)
|
rs1591641812
|
|
|
NM_014000.3(VCL):c.1677T>C (p.Ala559=)
|
|
|
|
NM_014000.3(VCL):c.168+18G>T
|
|
|
|
NM_014000.3(VCL):c.168+20C>T
|
|
|
|
NM_014000.3(VCL):c.168+28_168+39del
|
rs1029592759
|
|
|
NM_014000.3(VCL):c.168+9G>T
|
rs997516030
|
|
|
NM_014000.3(VCL):c.169-11dup
|
rs753900484
|
|
|
NM_014000.3(VCL):c.169-18T>A
|
rs1057521827
|
|
|
NM_014000.3(VCL):c.169-19A>G
|
|
|
|
NM_014000.3(VCL):c.169-7C>T
|
rs370213146
|
|
|
NM_014000.3(VCL):c.169-9C>T
|
rs980777626
|
|
|
NM_014000.3(VCL):c.1692G>A (p.Gly564=)
|
|
|
|
NM_014000.3(VCL):c.1704G>A (p.Gln568=)
|
rs1839959715
|
|
|
NM_014000.3(VCL):c.1728C>T (p.Leu576=)
|
|
|
|
NM_014000.3(VCL):c.1743+12G>A
|
|
|
|
NM_014000.3(VCL):c.1743+19T>C
|
rs542039663
|
|
|
NM_014000.3(VCL):c.1744-12A>C
|
rs763358338
|
|
|
NM_014000.3(VCL):c.1744-19T>C
|
|
|
|
NM_014000.3(VCL):c.1746T>C (p.Asp582=)
|
|
|
|
NM_014000.3(VCL):c.1800C>T (p.Ser600=)
|
rs1341597341
|
|
|
NM_014000.3(VCL):c.1806C>A (p.Thr602=)
|
rs1591707521
|
|
|
NM_014000.3(VCL):c.180G>A (p.Glu60=)
|
|
|
|
NM_014000.3(VCL):c.1825T>C (p.Leu609=)
|
|
|
|
NM_014000.3(VCL):c.183T>G (p.Thr61=)
|
|
|
|
NM_014000.3(VCL):c.186T>C (p.Val62=)
|
|
|
|
NM_014000.3(VCL):c.186T>G (p.Val62=)
|
|
|
|
NM_014000.3(VCL):c.1872+7A>G
|
rs760047913
|
|
|
NM_014000.3(VCL):c.1873-15T>C
|
|
|
|
NM_014000.3(VCL):c.1873-4C>T
|
|
|
|
NM_014000.3(VCL):c.1881T>C (p.Asp627=)
|
rs917342079
|
|
|
NM_014000.3(VCL):c.189A>G (p.Gln63=)
|
|
|
|
NM_014000.3(VCL):c.18G>A (p.Thr6=)
|
rs1247615898
|
|
|
NM_014000.3(VCL):c.1908T>C (p.His636=)
|
|
|
|
NM_014000.3(VCL):c.1965A>G (p.Lys655=)
|
rs2131922795
|
|
|
NM_014000.3(VCL):c.1973T>C (p.Val658Ala)
|
rs372691803
|
|
|
NM_014000.3(VCL):c.2005C>A (p.Arg669=)
|
rs780856981
|
|
|
NM_014000.3(VCL):c.2023-13T>C
|
|
|
|
NM_014000.3(VCL):c.2023-16_2023-15del
|
|
|
|
NM_014000.3(VCL):c.2028C>T (p.Val676=)
|
|
|
|
NM_014000.3(VCL):c.2058T>C (p.Pro686=)
|
|
|
|
NM_014000.3(VCL):c.2091C>A (p.Thr697=)
|
rs775493699
|
|
|
NM_014000.3(VCL):c.2100C>T (p.Asn700=)
|
|
|
|
NM_014000.3(VCL):c.2109C>T (p.Ile703=)
|
rs1253771786
|
|
|
NM_014000.3(VCL):c.2112T>C (p.Asp704=)
|
|
|
|
NM_014000.3(VCL):c.2131+12T>C
|
rs2131926869
|
|
|
NM_014000.3(VCL):c.2131+13A>G
|
rs2131926873
|
|
|
NM_014000.3(VCL):c.2131+16C>T
|
|
|
|
NM_014000.3(VCL):c.2132-19A>G
|
|
|
|
NM_014000.3(VCL):c.2132-6T>C
|
|
|
|
NM_014000.3(VCL):c.2133G>A (p.Gly711=)
|
|
|
|
NM_014000.3(VCL):c.2164C>T (p.Leu722=)
|
rs2131928315
|
|
|
NM_014000.3(VCL):c.2184A>G (p.Glu728=)
|
|
|
|
NM_014000.3(VCL):c.2205C>T (p.Asp735=)
|
|
|
|
NM_014000.3(VCL):c.2229C>T (p.Asn743=)
|
|
|
|
NM_014000.3(VCL):c.2256G>C (p.Gly752=)
|
rs1057522615
|
|
|
NM_014000.3(VCL):c.2268T>C (p.Ile756=)
|
|
|
|
NM_014000.3(VCL):c.2275C>A (p.Arg759=)
|
rs774477633
|
|
|
NM_014000.3(VCL):c.2277G>T (p.Arg759=)
|
|
|
|
NM_014000.3(VCL):c.228A>T (p.Pro76=)
|
|
|
|
NM_014000.3(VCL):c.2370G>A (p.Leu790=)
|
|
|
|
NM_014000.3(VCL):c.2379C>T (p.Thr793=)
|
rs1437382703
|
|
|
NM_014000.3(VCL):c.237T>A (p.Ile79=)
|
|
|
|
NM_014000.3(VCL):c.239+21_239+23del
|
|
|
|
NM_014000.3(VCL):c.239+8A>C
|
rs1180247012
|
|
|
NM_014000.3(VCL):c.239+9T>A
|
|
|
|
NM_014000.3(VCL):c.240-12T>C
|
|
|
|
NM_014000.3(VCL):c.2403A>G (p.Ala801=)
|
rs764369922
|
|
|
NM_014000.3(VCL):c.2434+16C>A
|
|
|
|
NM_014000.3(VCL):c.2435-15A>G
|
|
|
|
NM_014000.3(VCL):c.2435-6_2435-5del
|
|
|
|
NM_014000.3(VCL):c.2439G>A (p.Leu813=)
|
|
|
|
NM_014000.3(VCL):c.2460A>G (p.Ser820=)
|
rs752445640
|
|
|
NM_014000.3(VCL):c.2478A>G (p.Gly826=)
|
rs2131931365
|
|
|
NM_014000.3(VCL):c.2493C>A (p.Val831=)
|
rs2131931389
|
|
|
NM_014000.3(VCL):c.24G>A (p.Thr8=)
|
|
|
|
NM_014000.3(VCL):c.2529G>A (p.Pro843=)
|
rs1591714816
|
|
|
NM_014000.3(VCL):c.2538A>G (p.Pro846=)
|
|
|
|
NM_014000.3(VCL):c.2559+14G>A
|
|
|
|
NM_014000.3(VCL):c.2559+17A>G
|
|
|
|
NM_014000.3(VCL):c.2559+18T>C
|
rs1314406001
|
|
|
NM_014000.3(VCL):c.2560-15T>A
|
|
|
|
NM_014000.3(VCL):c.2560-18T>C
|
|
|
|
NM_014000.3(VCL):c.2560C>T (p.Leu854=)
|
rs551463686
|
|
|
NM_014000.3(VCL):c.2625T>G (p.Pro875=)
|
|
|
|
NM_014000.3(VCL):c.2721T>C (p.Asp907=)
|
|
|
|
NM_014000.3(VCL):c.2733A>G (p.Lys911=)
|
rs2131933726
|
|
|
NM_014000.3(VCL):c.273A>T (p.Ala91=)
|
|
|
|
NM_014000.3(VCL):c.2745+13G>A
|
|
|
|
NM_014000.3(VCL):c.2746-11C>G
|
rs1840225986
|
|
|
NM_014000.3(VCL):c.2746-13G>A
|
|
|
|
NM_014000.3(VCL):c.2746-13G>C
|
|
|
|
NM_014000.3(VCL):c.2746-15C>G
|
|
|
|
NM_014000.3(VCL):c.2746-5C>T
|
rs768157349
|
|
|
NM_014000.3(VCL):c.2746-7G>T
|
rs746463683
|
|
|
NM_014000.3(VCL):c.2748G>C (p.Pro916=)
|
|
|
|
NM_014000.3(VCL):c.2763T>C (p.Ala921=)
|
|
|
|
NM_014000.3(VCL):c.2769G>A (p.Val923=)
|
rs1057521313
|
|
|
NM_014000.3(VCL):c.2769G>C (p.Val923=)
|
rs1057521313
|
|
|
NM_014000.3(VCL):c.2784A>G (p.Val928=)
|
rs752985431
|
|
|
NM_014000.3(VCL):c.2799G>C (p.Ala933=)
|
|
|
|
NM_014000.3(VCL):c.27C>T (p.Ile9=)
|
rs2136218230
|
|
|
NM_014000.3(VCL):c.2802C>A (p.Ala934=)
|
rs372381809
|
|
|
NM_014000.3(VCL):c.2892G>A (p.Gln964=)
|
rs2131937355
|
|
|
NM_014000.3(VCL):c.2898T>C (p.Ile966=)
|
rs2131937368
|
|
|
NM_014000.3(VCL):c.2907G>A (p.Ala969=)
|
|
|
|
NM_014000.3(VCL):c.2934C>T (p.Thr978=)
|
|
|
|
NM_014000.3(VCL):c.2949+12C>A
|
|
|
|
NM_014000.3(VCL):c.2949+13A>G
|
rs2131937447
|
|
|
NM_014000.3(VCL):c.2949+14C>A
|
|
|
|
NM_014000.3(VCL):c.2949+17C>T
|
|
|
|
NM_014000.3(VCL):c.2949+19A>C
|
rs2131937463
|
|
|
NM_014000.3(VCL):c.2950-19dup
|
|
|
|
NM_014000.3(VCL):c.2950-20_2950-19del
|
|
|
|
NM_014000.3(VCL):c.2961C>A (p.Ile987=)
|
|
|
|
NM_014000.3(VCL):c.2991G>T (p.Leu997=)
|
|
|
|
NM_014000.3(VCL):c.3009G>A (p.Arg1003=)
|
rs1223294230
|
|
|
NM_014000.3(VCL):c.300C>T (p.Tyr100=)
|
|
|
|
NM_014000.3(VCL):c.3015A>G (p.Val1005=)
|
rs2131939825
|
|
|
NM_014000.3(VCL):c.3024C>A (p.Gly1008=)
|
rs2131939835
|
|
|
NM_014000.3(VCL):c.303A>G (p.Ser101=)
|
|
|
|
NM_014000.3(VCL):c.3111C>G (p.Ala1037=)
|
|
|
|
NM_014000.3(VCL):c.3123A>G (p.Thr1041=)
|
|
|
|
NM_014000.3(VCL):c.312T>C (p.Ala104=)
|
|
|
|
NM_014000.3(VCL):c.3153+10G>A
|
rs371631031
|
|
|
NM_014000.3(VCL):c.3153+14G>T
|
|
|
|
NM_014000.3(VCL):c.3153+17G>T
|
|
|
|
NM_014000.3(VCL):c.3153+21_3153+28del
|
|
|
|
NM_014000.3(VCL):c.3153+46_3153+47insCGTGCGTGTGTGTGTGTGTGTGTGTGTGTG
|
|
|
|
NM_014000.3(VCL):c.3153+7G>A
|
|
|
|
NM_014000.3(VCL):c.3154-12C>A
|
|
|
|
NM_014000.3(VCL):c.3154-7T>C
|
rs2131940668
|
|
|
NM_014000.3(VCL):c.3183C>T (p.Thr1061=)
|
rs2131940738
|
|
|
NM_014000.3(VCL):c.318T>C (p.Asp106=)
|
|
|
|
NM_014000.3(VCL):c.3204A>T (p.Thr1068=)
|
rs2131940751
|
|
|
NM_014000.3(VCL):c.3258+10A>C
|
rs71579379
|
|
|
NM_014000.3(VCL):c.3258+14G>A
|
|
|
|
NM_014000.3(VCL):c.3259-11T>C
|
rs578132218
|
|
|
NM_014000.3(VCL):c.3259-14del
|
|
|
|
NM_014000.3(VCL):c.3259-16A>G
|
|
|
|
NM_014000.3(VCL):c.3259-8C>T
|
|
|
|
NM_014000.3(VCL):c.3261C>T (p.Ala1087=)
|
rs2131944310
|
|
|
NM_014000.3(VCL):c.3264A>G (p.Thr1088=)
|
rs755500343
|
|
|
NM_014000.3(VCL):c.3267G>A (p.Glu1089=)
|
|
|
|
NM_014000.3(VCL):c.3306G>A (p.Val1102=)
|
|
|
|
NM_014000.3(VCL):c.3348T>A (p.Ile1116=)
|
|
|
|
NM_014000.3(VCL):c.3357T>C (p.Asp1119=)
|
|
|
|
NM_014000.3(VCL):c.336A>C (p.Ser112=)
|
|
|
|
NM_014000.3(VCL):c.3399C>T (p.Tyr1133=)
|
rs1591723037
|
|
|
NM_014000.3(VCL):c.3402G>A (p.Gln1134=)
|
|
|
|
NM_014000.3(VCL):c.354A>C (p.Gly118=)
|
|
|
|
NM_014000.3(VCL):c.357A>G (p.Thr119=)
|
|
|
|
NM_014000.3(VCL):c.390+12G>C
|
|
|
|
NM_014000.3(VCL):c.390+7A>G
|
|
|
|
NM_014000.3(VCL):c.391-19C>T
|
|
|
|
NM_014000.3(VCL):c.391-7T>C
|
|
|
|
NM_014000.3(VCL):c.453G>C (p.Val151=)
|
rs766271456
|
|
|
NM_014000.3(VCL):c.480C>T (p.Tyr160=)
|
rs2136272917
|
|
|
NM_014000.3(VCL):c.499+12C>A
|
|
|
|
NM_014000.3(VCL):c.499+14A>C
|
rs925809522
|
|
|
NM_014000.3(VCL):c.499+20T>A
|
|
|
|
NM_014000.3(VCL):c.499+20T>C
|
|
|
|
NM_014000.3(VCL):c.500-10T>C
|
|
|
|
NM_014000.3(VCL):c.500-11T>C
|
|
|
|
NM_014000.3(VCL):c.500-11T>G
|
|
|
|
NM_014000.3(VCL):c.500-17dup
|
|
|
|
NM_014000.3(VCL):c.500-5C>T
|
|
|
|
NM_014000.3(VCL):c.519G>A (p.Lys173=)
|
rs1060504505
|
|
|
NM_014000.3(VCL):c.51A>G (p.Ala17=)
|
rs1591641682
|
|
|
NM_014000.3(VCL):c.582G>T (p.Ser194=)
|
rs773725513
|
|
|
NM_014000.3(VCL):c.591C>G (p.Thr197=)
|
rs199960157
|
|
|
NM_014000.3(VCL):c.622+9T>C
|
|
|
|
NM_014000.3(VCL):c.69G>C (p.Leu23=)
|
rs1591641692
|
|
|
NM_014000.3(VCL):c.702A>T (p.Val234=)
|
|
|
|
NM_014000.3(VCL):c.742T>C (p.Leu248=)
|
|
|
|
NM_014000.3(VCL):c.783+15dup
|
|
|
|
NM_014000.3(VCL):c.783+16G>A
|
|
|
|
NM_014000.3(VCL):c.783+17G>C
|
|
|
|
NM_014000.3(VCL):c.784-12dup
|
|
|
|
NM_014000.3(VCL):c.784-16dup
|
|
|
|
NM_014000.3(VCL):c.784-18G>A
|
|
|
|
NM_014000.3(VCL):c.784-19T>G
|
|
|
|
NM_014000.3(VCL):c.784-8C>T
|
|
|
|
NM_014000.3(VCL):c.789T>C (p.Thr263=)
|
rs538002543
|
|
|
NM_014000.3(VCL):c.801G>A (p.Lys267=)
|
rs2136280262
|
|
|
NM_014000.3(VCL):c.807A>T (p.Ala269=)
|
rs772312532
|
|
|
NM_014000.3(VCL):c.825C>T (p.Ser275=)
|
|
|
|
NM_014000.3(VCL):c.829C>T (p.Leu277=)
|
rs71579353
|
|
|
NM_014000.3(VCL):c.864T>C (p.Ser288=)
|
|
|
|
NM_014000.3(VCL):c.870C>T (p.Ser290=)
|
|
|
|
NM_014000.3(VCL):c.874+18C>T
|
|
|
|
NM_014000.3(VCL):c.874+8T>C
|
|
|
|
NM_014000.3(VCL):c.874+9C>G
|
rs756064535
|
|
|
NM_014000.3(VCL):c.874+9C>T
|
|
|
|
NM_014000.3(VCL):c.875-6T>C
|
|
|
|
NM_014000.3(VCL):c.875-7del
|
|
|
|
NM_014000.3(VCL):c.87G>A (p.Glu29=)
|
rs2136218290
|
|
|
NM_014000.3(VCL):c.930T>G (p.Gly310=)
|
|
|
|
NM_014000.3(VCL):c.942A>G (p.Ala314=)
|
|
|
|
NM_014476.6(PDLIM3):c.1027A>G (p.Thr343Ala)
|
rs569673500
|
|
|
NM_014476.6(PDLIM3):c.1035A>G (p.Ala345=)
|
|
|
|
NM_014476.6(PDLIM3):c.1078C>T (p.Leu360=)
|
rs974220815
|
|
|
NM_014476.6(PDLIM3):c.138A>C (p.Gly46=)
|
|
|
|
NM_014476.6(PDLIM3):c.195G>T (p.Ala65=)
|
|
|
|
NM_014476.6(PDLIM3):c.246-19A>G
|
|
|
|
NM_014476.6(PDLIM3):c.246-9T>C
|
rs2153337858
|
|
|
NM_014476.6(PDLIM3):c.261A>G (p.Leu87=)
|
rs2153337849
|
|
|
NM_014476.6(PDLIM3):c.331-15G>A
|
|
|
|
NM_014476.6(PDLIM3):c.398+12T>A
|
|
|
|
NM_014476.6(PDLIM3):c.398+12T>C
|
|
|
|
NM_014476.6(PDLIM3):c.398+15G>A
|
rs1259024974
|
|
|
NM_014476.6(PDLIM3):c.398+8G>A
|
rs1215013585
|
|
|
NM_014476.6(PDLIM3):c.399-17dup
|
rs1176465439
|
|
|
NM_014476.6(PDLIM3):c.399-9T>C
|
rs2153333102
|
|
|
NM_014476.6(PDLIM3):c.417C>A (p.Ser139=)
|
rs200230349
|
|
|
NM_014476.6(PDLIM3):c.465T>C (p.Thr155=)
|
rs2095701642
|
|
|
NM_014476.6(PDLIM3):c.474C>T (p.Thr158=)
|
|
|
|
NM_014476.6(PDLIM3):c.537A>G (p.Glu179=)
|
rs750215417
|
|
|
NM_014476.6(PDLIM3):c.558A>G (p.Val186=)
|
rs2153332982
|
|
|
NM_014476.6(PDLIM3):c.579T>C (p.Pro193=)
|
|
|
|
NM_014476.6(PDLIM3):c.594A>G (p.Ser198=)
|
|
|
|
NM_014476.6(PDLIM3):c.663-18G>A
|
|
|
|
NM_014476.6(PDLIM3):c.663-19C>T
|
|
|
|
NM_014476.6(PDLIM3):c.672A>T (p.Thr224=)
|
|
|
|
NM_014476.6(PDLIM3):c.750G>A (p.Ser250=)
|
|
|
|
NM_014476.6(PDLIM3):c.780G>A (p.Val260=)
|
rs2153332313
|
|
|
NM_014476.6(PDLIM3):c.794-14G>C
|
|
|
|
NM_014476.6(PDLIM3):c.794-15C>T
|
|
|
|
NM_014476.6(PDLIM3):c.804G>A (p.Pro268=)
|
|
|
|
NM_014476.6(PDLIM3):c.822G>A (p.Val274=)
|
rs1580233408
|
|
|
NM_014476.6(PDLIM3):c.834G>A (p.Val278=)
|
|
|
|
NM_014476.6(PDLIM3):c.837G>A (p.Thr279=)
|
rs199895839
|
|
|
NM_014476.6(PDLIM3):c.837G>C (p.Thr279=)
|
|
|
|
NM_014476.6(PDLIM3):c.861G>T (p.Gly287=)
|
rs764585438
|
|
|
NM_014476.6(PDLIM3):c.906-8C>T
|
|
|
|
NM_014476.6(PDLIM3):c.93+13A>C
|
|
|
|
NM_014476.6(PDLIM3):c.93+16C>A
|
rs557718466
|
|
|
NM_014476.6(PDLIM3):c.93+9C>A
|
rs961788900
|
|
|
NM_014476.6(PDLIM3):c.93+9C>G
|
|
|
|
NM_014476.6(PDLIM3):c.94-11A>T
|
|
|
|
NM_014476.6(PDLIM3):c.94-14A>G
|
|
|
|
NM_014476.6(PDLIM3):c.94-7C>A
|
|
|
|
NM_014476.6(PDLIM3):c.954C>T (p.Phe318=)
|
rs757507673
|
|
|
NM_014476.6(PDLIM3):c.975C>T (p.Leu325=)
|
|
|
|
NM_014908.4(DOLK):c.1059C>T (p.Ile353=)
|
rs1167712176
|
|
|
NM_014908.4(DOLK):c.1065C>T (p.Asp355=)
|
|
|
|
NM_014908.4(DOLK):c.1071A>G (p.Pro357=)
|
|
|
|
NM_014908.4(DOLK):c.1110C>T (p.Phe370=)
|
|
|
|
NM_014908.4(DOLK):c.1116C>T (p.Phe372=)
|
|
|
|
NM_014908.4(DOLK):c.1140C>T (p.Arg380=)
|
|
|
|
NM_014908.4(DOLK):c.1149T>C (p.Pro383=)
|
rs1554826752
|
|
|
NM_014908.4(DOLK):c.1170C>T (p.Ser390=)
|
|
|
|
NM_014908.4(DOLK):c.1176G>T (p.Leu392=)
|
rs1229430506
|
|
|
NM_014908.4(DOLK):c.1286A>G (p.Lys429Arg)
|
rs574562542
|
|
|
NM_014908.4(DOLK):c.129G>C (p.Ser43=)
|
rs372068885
|
|
|
NM_014908.4(DOLK):c.1320C>G (p.Pro440=)
|
|
|
|
NM_014908.4(DOLK):c.1332C>T (p.Val444=)
|
|
|
|
NM_014908.4(DOLK):c.1359G>A (p.Val453=)
|
rs2131127011
|
|
|
NM_014908.4(DOLK):c.1362C>T (p.Ala454=)
|
rs2131127008
|
|
|
NM_014908.4(DOLK):c.1380C>T (p.Thr460=)
|
rs1372552063
|
|
|
NM_014908.4(DOLK):c.1395C>G (p.Arg465=)
|
|
|
|
NM_014908.4(DOLK):c.1395C>T (p.Arg465=)
|
rs1045763502
|
|
|
NM_014908.4(DOLK):c.1407C>T (p.Thr469=)
|
|
|
|
NM_014908.4(DOLK):c.141G>A (p.Val47=)
|
|
|
|
NM_014908.4(DOLK):c.1482C>T (p.Asp494=)
|
|
|
|
NM_014908.4(DOLK):c.1509T>C (p.Tyr503=)
|
rs1331692893
|
|
|
NM_014908.4(DOLK):c.1536T>G (p.Thr512=)
|
|
|
|
NM_014908.4(DOLK):c.1563A>G (p.Thr521=)
|
|
|
|
NM_014908.4(DOLK):c.1596C>G (p.Leu532=)
|
|
|
|
NM_014908.4(DOLK):c.15C>T (p.Cys5=)
|
|
|
|
NM_014908.4(DOLK):c.1603T>C (p.Leu535=)
|
|
|
|
NM_014908.4(DOLK):c.207C>G (p.Ala69=)
|
|
|
|
NM_014908.4(DOLK):c.207C>T (p.Ala69=)
|
rs145764316
|
|
|
NM_014908.4(DOLK):c.231A>G (p.Ala77=)
|
rs1035319147
|
|
|
NM_014908.4(DOLK):c.244T>C (p.Leu82=)
|
rs1588262895
|
|
|
NM_014908.4(DOLK):c.261C>T (p.Val87=)
|
|
|
|
NM_014908.4(DOLK):c.27C>G (p.Ala9=)
|
rs2131129465
|
|
|
NM_014908.4(DOLK):c.294G>A (p.Arg98=)
|
rs876657456
|
|
|
NM_014908.4(DOLK):c.339G>A (p.Val113=)
|
rs2131128893
|
|
|
NM_014908.4(DOLK):c.387G>A (p.Ala129=)
|
rs761831947
|
|
|
NM_014908.4(DOLK):c.387G>C (p.Ala129=)
|
rs761831947
|
|
|
NM_014908.4(DOLK):c.390C>G (p.Leu130=)
|
rs774441866
|
|
|
NM_014908.4(DOLK):c.390C>T (p.Leu130=)
|
|
|
|
NM_014908.4(DOLK):c.426C>T (p.Val142=)
|
rs1465958631
|
|
|
NM_014908.4(DOLK):c.45G>T (p.Pro15=)
|
rs2131129425
|
|
|
NM_014908.4(DOLK):c.46C>T (p.Leu16=)
|
rs933503741
|
|
|
NM_014908.4(DOLK):c.495C>A (p.Ile165=)
|
rs149177994
|
|
|
NM_014908.4(DOLK):c.516G>A (p.Leu172=)
|
|
|
|
NM_014908.4(DOLK):c.522C>T (p.Phe174=)
|
rs770077124
|
|
|
NM_014908.4(DOLK):c.534C>T (p.Asn178=)
|
rs1201588280
|
|
|
NM_014908.4(DOLK):c.540C>A (p.Ile180=)
|
|
|
|
NM_014908.4(DOLK):c.543G>T (p.Leu181=)
|
|
|
|
NM_014908.4(DOLK):c.549C>T (p.Tyr183=)
|
|
|
|
NM_014908.4(DOLK):c.597T>A (p.Gly199=)
|
|
|
|
NM_014908.4(DOLK):c.61C>T (p.Leu21=)
|
|
|
|
NM_014908.4(DOLK):c.693A>G (p.Val231=)
|
rs2131128273
|
|
|
NM_014908.4(DOLK):c.699G>T (p.Gly233=)
|
rs2131128256
|
|
|
NM_014908.4(DOLK):c.708C>T (p.Leu236=)
|
rs1177109504
|
|
|
NM_014908.4(DOLK):c.732G>A (p.Leu244=)
|
|
|
|
NM_014908.4(DOLK):c.738C>T (p.Val246=)
|
|
|
|
NM_014908.4(DOLK):c.747C>T (p.Asp249=)
|
rs2131128124
|
|
|
NM_014908.4(DOLK):c.816A>G (p.Leu272=)
|
rs1841671262
|
|
|
NM_014908.4(DOLK):c.834C>A (p.Leu278=)
|
|
|
|
NM_014908.4(DOLK):c.864T>C (p.Leu288=)
|
|
|
|
NM_014908.4(DOLK):c.915T>C (p.Ser305=)
|
rs2131127826
|
|
|
NM_014908.4(DOLK):c.919C>T (p.Leu307=)
|
rs927774250
|
|
|
NM_014908.4(DOLK):c.966G>C (p.Arg322=)
|
|
|
|
NM_014908.4(DOLK):c.975C>A (p.Ser325=)
|
rs149462670
|
|
|
NM_014908.4(DOLK):c.975C>G (p.Ser325=)
|
|
|
|
NM_015374.3(SUN2):c.1002G>C (p.Gly334=)
|
|
|
|
NM_015374.3(SUN2):c.1069-10C>T
|
rs751557207
|
|
|
NM_015374.3(SUN2):c.1146+14C>T
|
|
|
|
NM_015374.3(SUN2):c.1146+15G>A
|
|
|
|
NM_015374.3(SUN2):c.1146+9G>T
|
|
|
|
NM_015374.3(SUN2):c.1147-11T>C
|
|
|
|
NM_015374.3(SUN2):c.1190+15C>A
|
|
|
|
NM_015374.3(SUN2):c.1218C>T (p.Ser406=)
|
rs1368002307
|
|
|
NM_015374.3(SUN2):c.123-14T>C
|
rs759683752
|
|
|
NM_015374.3(SUN2):c.123-19C>G
|
rs767573606
|
|
|
NM_015374.3(SUN2):c.1231C>G (p.Leu411Val)
|
rs552540669
|
|
|
NM_015374.3(SUN2):c.126C>A (p.Thr42=)
|
|
|
|
NM_015374.3(SUN2):c.1273C>T (p.Leu425=)
|
|
|
|
NM_015374.3(SUN2):c.1278G>A (p.Ala426=)
|
|
|
|
NM_015374.3(SUN2):c.1290G>T (p.Leu430=)
|
|
|
|
NM_015374.3(SUN2):c.1308G>A (p.Ala436=)
|
rs537365600
|
|
|
NM_015374.3(SUN2):c.1338C>T (p.Ile446=)
|
|
|
|
NM_015374.3(SUN2):c.1357-10G>T
|
rs2145950862
|
|
|
NM_015374.3(SUN2):c.1392C>T (p.Phe464=)
|
|
|
|
NM_015374.3(SUN2):c.1437G>A (p.Glu479=)
|
rs1426973731
|
|
|
NM_015374.3(SUN2):c.1455G>A (p.Leu485=)
|
rs1049599036
|
|
|
NM_015374.3(SUN2):c.1485T>C (p.His495=)
|
|
|
|
NM_015374.3(SUN2):c.1521C>T (p.Ala507=)
|
|
|
|
NM_015374.3(SUN2):c.1593C>T (p.Ile531=)
|
|
|
|
NM_015374.3(SUN2):c.165A>C (p.Pro55=)
|
|
|
|
NM_015374.3(SUN2):c.1664-11T>C
|
|
|
|
NM_015374.3(SUN2):c.1664-18C>T
|
|
|
|
NM_015374.3(SUN2):c.1664-8T>C
|
|
|
|
NM_015374.3(SUN2):c.1677C>T (p.Ile559=)
|
rs1318955450
|
|
|
NM_015374.3(SUN2):c.1734C>A (p.Gly578=)
|
|
|
|
NM_015374.3(SUN2):c.1779+17C>A
|
|
|
|
NM_015374.3(SUN2):c.1830C>T (p.Phe610=)
|
|
|
|
NM_015374.3(SUN2):c.1947+7A>G
|
rs1569294585
|
|
|
NM_015374.3(SUN2):c.2040+19C>G
|
|
|
|
NM_015374.3(SUN2):c.2041-16T>C
|
|
|
|
NM_015374.3(SUN2):c.2043C>A (p.Ala681=)
|
rs751159582
|
|
|
NM_015374.3(SUN2):c.2043C>G (p.Ala681=)
|
|
|
|
NM_015374.3(SUN2):c.2074C>T (p.Leu692=)
|
rs1603210228
|
|
|
NM_015374.3(SUN2):c.2145C>T (p.Pro715=)
|
|
|
|
NM_015374.3(SUN2):c.247A>C (p.Arg83=)
|
rs1474913633
|
|
|
NM_015374.3(SUN2):c.252C>T (p.Ser84=)
|
|
|
|
NM_015374.3(SUN2):c.286+12G>T
|
rs2146081428
|
|
|
NM_015374.3(SUN2):c.286+19G>A
|
|
|
|
NM_015374.3(SUN2):c.287-17G>C
|
|
|
|
NM_015374.3(SUN2):c.287-7T>C
|
rs1603230014
|
|
|
NM_015374.3(SUN2):c.306G>A (p.Arg102=)
|
|
|
|
NM_015374.3(SUN2):c.321G>A (p.Thr107=)
|
|
|
|
NM_015374.3(SUN2):c.348C>T (p.Ser116=)
|
|
|
|
NM_015374.3(SUN2):c.405C>T (p.Ser135=)
|
|
|
|
NM_015374.3(SUN2):c.450T>C (p.Ser150=)
|
|
|
|
NM_015374.3(SUN2):c.486G>A (p.Ala162=)
|
|
|
|
NM_015374.3(SUN2):c.520+14C>T
|
|
|
|
NM_015374.3(SUN2):c.520+18C>G
|
|
|
|
NM_015374.3(SUN2):c.521-20C>T
|
|
|
|
NM_015374.3(SUN2):c.561C>G (p.Thr187=)
|
rs775025047
|
|
|
NM_015374.3(SUN2):c.567C>T (p.Tyr189=)
|
|
|
|
NM_015374.3(SUN2):c.614+14C>T
|
|
|
|
NM_015374.3(SUN2):c.614+18C>T
|
|
|
|
NM_015374.3(SUN2):c.628C>T (p.Leu210=)
|
|
|
|
NM_015374.3(SUN2):c.66C>T (p.Ser22=)
|
|
|
|
NM_015374.3(SUN2):c.686-13C>G
|
|
|
|
NM_015374.3(SUN2):c.705C>T (p.Pro235=)
|
|
|
|
NM_015374.3(SUN2):c.753G>A (p.Ala251=)
|
|
|
|
NM_015374.3(SUN2):c.771G>A (p.Pro257=)
|
|
|
|
NM_015374.3(SUN2):c.78G>A (p.Ser26=)
|
rs757655044
|
|
|
NM_015374.3(SUN2):c.801G>A (p.Ser267=)
|
|
|
|
NM_015374.3(SUN2):c.814-17T>G
|
|
|
|
NM_015374.3(SUN2):c.915G>A (p.Leu305=)
|
rs1189059505
|
|
|
NM_015374.3(SUN2):c.924G>C (p.Leu308=)
|
|
|
|
NM_015374.3(SUN2):c.993G>A (p.Leu331=)
|
|
|
|
NM_016203.4(PRKAG2):c.1005+12C>A
|
|
|
|
NM_016203.4(PRKAG2):c.1005+13A>C
|
|
|
|
NM_016203.4(PRKAG2):c.1005+13A>T
|
|
|
|
NM_016203.4(PRKAG2):c.1005+20A>G
|
|
|
|
NM_016203.4(PRKAG2):c.1005+8G>C
|
rs1245068890
|
|
|
NM_016203.4(PRKAG2):c.1006-13_1006-9dup
|
|
|
|
NM_016203.4(PRKAG2):c.1006-19A>G
|
|
|
|
NM_016203.4(PRKAG2):c.1006-4G>A
|
|
|
|
NM_016203.4(PRKAG2):c.102C>G (p.Arg34=)
|
rs1057522970
|
|
|
NM_016203.4(PRKAG2):c.1032T>C (p.His344=)
|
|
|
|
NM_016203.4(PRKAG2):c.1044A>C (p.Thr348=)
|
|
|
|
NM_016203.4(PRKAG2):c.1051+10_1051+11del
|
|
|
|
NM_016203.4(PRKAG2):c.1051+11T>A
|
|
|
|
NM_016203.4(PRKAG2):c.1051+14G>T
|
|
|
|
NM_016203.4(PRKAG2):c.1051+17G>A
|
|
|
|
NM_016203.4(PRKAG2):c.1052-10A>G
|
rs1032360031
|
|
|
NM_016203.4(PRKAG2):c.1052-12C>T
|
|
|
|
NM_016203.4(PRKAG2):c.1052-4A>G
|
rs977597576
|
|
|
NM_016203.4(PRKAG2):c.105G>T (p.Val35=)
|
|
|
|
NM_016203.4(PRKAG2):c.1068A>G (p.Glu356=)
|
|
|
|
NM_016203.4(PRKAG2):c.108C>T (p.His36=)
|
rs753210415
|
|
|
NM_016203.4(PRKAG2):c.1095T>C (p.Ser365=)
|
|
|
|
NM_016203.4(PRKAG2):c.1106+14T>A
|
|
|
|
NM_016203.4(PRKAG2):c.1106+9G>A
|
rs200429988
|
|
|
NM_016203.4(PRKAG2):c.1106+9G>T
|
rs200429988
|
|
|
NM_016203.4(PRKAG2):c.1106+9_1106+11del
|
rs759705299
|
|
|
NM_016203.4(PRKAG2):c.1107-10TC[4]
|
|
|
|
NM_016203.4(PRKAG2):c.1107-12del
|
|
|
|
NM_016203.4(PRKAG2):c.1107-14G>C
|
rs201150309
|
|
|
NM_016203.4(PRKAG2):c.1107-17A>G
|
|
|
|
NM_016203.4(PRKAG2):c.1107-18T>C
|
rs1563152454
|
|
|
NM_016203.4(PRKAG2):c.1107-9C>T
|
rs1806877306
|
|
|
NM_016203.4(PRKAG2):c.1113C>T (p.Phe371=)
|
rs1806873615
|
|
|
NM_016203.4(PRKAG2):c.111T>C (p.Ile37=)
|
rs144426409
|
|
|
NM_016203.4(PRKAG2):c.1128C>T (p.Ser376=)
|
|
|
|
NM_016203.4(PRKAG2):c.114+13034A>T
|
|
|
|
NM_016203.4(PRKAG2):c.114+14C>G
|
|
|
|
NM_016203.4(PRKAG2):c.115-18G>A
|
|
|
|
NM_016203.4(PRKAG2):c.115-20G>A
|
|
|
|
NM_016203.4(PRKAG2):c.115-9C>T
|
|
|
|
NM_016203.4(PRKAG2):c.1158C>T (p.Pro386=)
|
rs747247488
|
|
|
NM_016203.4(PRKAG2):c.1197T>C (p.Leu399=)
|
|
|
|
NM_016203.4(PRKAG2):c.1200C>G (p.Thr400=)
|
|
|
|
NM_016203.4(PRKAG2):c.1215C>T (p.Leu405=)
|
rs1584956582
|
|
|
NM_016203.4(PRKAG2):c.1233+14A>G
|
|
|
|
NM_016203.4(PRKAG2):c.1233+16C>T
|
rs1226861026
|
|
|
NM_016203.4(PRKAG2):c.1233+17G>A
|
rs372612064
|
|
|
NM_016203.4(PRKAG2):c.1233+17G>T
|
|
|
|
NM_016203.4(PRKAG2):c.1234-13A>G
|
|
|
|
NM_016203.4(PRKAG2):c.1234-18C>T
|
|
|
|
NM_016203.4(PRKAG2):c.1260C>T (p.Phe420=)
|
|
|
|
NM_016203.4(PRKAG2):c.1281G>A (p.Glu427=)
|
|
|
|
NM_016203.4(PRKAG2):c.1296G>C (p.Thr432=)
|
|
|
|
NM_016203.4(PRKAG2):c.1305C>T (p.Asn435=)
|
|
|
|
NM_016203.4(PRKAG2):c.1311C>T (p.Ala437=)
|
rs1258494294
|
|
|
NM_016203.4(PRKAG2):c.1332C>T (p.Pro444=)
|
|
|
|
NM_016203.4(PRKAG2):c.1383T>G (p.Pro461=)
|
|
|
|
NM_016203.4(PRKAG2):c.1399+18T>A
|
|
|
|
NM_016203.4(PRKAG2):c.1399+8T>C
|
rs750475269
|
|
|
NM_016203.4(PRKAG2):c.1399+8T>G
|
|
|
|
NM_016203.4(PRKAG2):c.1399+9G>A
|
rs2150995396
|
|
|
NM_016203.4(PRKAG2):c.1400-17A>G
|
|
|
|
NM_016203.4(PRKAG2):c.1400-18T>C
|
|
|
|
NM_016203.4(PRKAG2):c.1425A>G (p.Lys475=)
|
|
|
|
NM_016203.4(PRKAG2):c.1437+11T>G
|
|
|
|
NM_016203.4(PRKAG2):c.1437+17T>C
|
rs780581700
|
|
|
NM_016203.4(PRKAG2):c.1438-17C>A
|
|
|
|
NM_016203.4(PRKAG2):c.1438-18T>C
|
|
|
|
NM_016203.4(PRKAG2):c.1449T>C (p.Ala483=)
|
rs148632949
|
|
|
NM_016203.4(PRKAG2):c.1464T>C (p.Asn488=)
|
|
|
|
NM_016203.4(PRKAG2):c.1509G>A (p.Gln503=)
|
rs2150988654
|
|
|
NM_016203.4(PRKAG2):c.154C>T (p.Leu52=)
|
|
|
|
NM_016203.4(PRKAG2):c.1551G>A (p.Leu517=)
|
|
|
|
NM_016203.4(PRKAG2):c.1554G>A (p.Glu518=)
|
|
|
|
NM_016203.4(PRKAG2):c.1560C>T (p.Ile520=)
|
rs376762359
|
|
|
NM_016203.4(PRKAG2):c.156G>A (p.Leu52=)
|
rs1169139558
|
|
|
NM_016203.4(PRKAG2):c.1584+17A>G
|
rs2150988377
|
|
|
NM_016203.4(PRKAG2):c.1585-19C>G
|
rs1057523714
|
|
|
NM_016203.4(PRKAG2):c.1587C>G (p.Val529=)
|
rs1563132006
|
|
|
NM_016203.4(PRKAG2):c.1594C>T (p.Leu532=)
|
|
|
|
NM_016203.4(PRKAG2):c.1596G>C (p.Leu532=)
|
rs1804717541
|
|
|
NM_016203.4(PRKAG2):c.1605A>G (p.Val535=)
|
|
|
|
NM_016203.4(PRKAG2):c.1619G>A (p.Ser540Asn)
|
|
|
|
NM_016203.4(PRKAG2):c.1629T>A (p.Gly543=)
|
rs1258497596
|
|
|
NM_016203.4(PRKAG2):c.162T>C (p.Gly54=)
|
|
|
|
NM_016203.4(PRKAG2):c.1651C>T (p.Leu551=)
|
rs2150971482
|
|
|
NM_016203.4(PRKAG2):c.1668C>A (p.Leu556=)
|
rs1307794877
|
|
|
NM_016203.4(PRKAG2):c.1678+11G>T
|
|
|
|
NM_016203.4(PRKAG2):c.1678+16C>G
|
rs761012285
|
|
|
NM_016203.4(PRKAG2):c.1678+18G>A
|
|
|
|
NM_016203.4(PRKAG2):c.1678+18G>T
|
|
|
|
NM_016203.4(PRKAG2):c.1679-12A>G
|
|
|
|
NM_016203.4(PRKAG2):c.1679-14C>T
|
rs1803943848
|
|
|
NM_016203.4(PRKAG2):c.1679-19A>G
|
rs200262620
|
|
|
NM_016203.4(PRKAG2):c.1679-19A>T
|
rs200262620
|
|
|
NM_016203.4(PRKAG2):c.1679-7C>T
|
rs554184398
|
|
|
NM_016203.4(PRKAG2):c.1698A>C (p.Thr566=)
|
|
|
|
NM_016203.4(PRKAG2):c.1704G>C (p.Thr568=)
|
|
|
|
NM_016203.4(PRKAG2):c.1707G>A (p.Glu569=)
|
|
|
|
NM_016203.4(PRKAG2):c.171G>A (p.Lys57=)
|
rs2077016039
|
|
|
NM_016203.4(PRKAG2):c.186+10C>T
|
rs759913875
|
|
|
NM_016203.4(PRKAG2):c.186+20A>C
|
rs771538031
|
|
|
NM_016203.4(PRKAG2):c.187-7dup
|
rs1304458769
|
|
|
NM_016203.4(PRKAG2):c.187-8T>C
|
rs1220186527
|
|
|
NM_016203.4(PRKAG2):c.187-9T>C
|
rs1269982225
|
|
|
NM_016203.4(PRKAG2):c.189G>T (p.Val63=)
|
rs1216653645
|
|
|
NM_016203.4(PRKAG2):c.192C>T (p.Asp64=)
|
|
|
|
NM_016203.4(PRKAG2):c.204C>T (p.Gly68=)
|
rs761181432
|
|
|
NM_016203.4(PRKAG2):c.207G>C (p.Pro69=)
|
|
|
|
NM_016203.4(PRKAG2):c.207G>T (p.Pro69=)
|
rs144384573
|
|
|
NM_016203.4(PRKAG2):c.224G>C (p.Gly75Ala)
|
rs199963585
|
|
|
NM_016203.4(PRKAG2):c.231C>T (p.Phe77=)
|
|
|
|
NM_016203.4(PRKAG2):c.240C>G (p.Gly80=)
|
rs142482217
|
|
|
NM_016203.4(PRKAG2):c.248C>T (p.Pro83Leu)
|
rs757900380
|
|
|
NM_016203.4(PRKAG2):c.249C>T (p.Pro83=)
|
|
|
|
NM_016203.4(PRKAG2):c.24C>A (p.Thr8=)
|
|
|
|
NM_016203.4(PRKAG2):c.252G>C (p.Arg84=)
|
rs2076658352
|
|
|
NM_016203.4(PRKAG2):c.253C>A (p.Pro85Thr)
|
|
|
|
NM_016203.4(PRKAG2):c.261C>T (p.Ser87=)
|
rs1377817526
|
|
|
NM_016203.4(PRKAG2):c.273A>T (p.Ala91=)
|
|
|
|
NM_016203.4(PRKAG2):c.27G>A (p.Lys9=)
|
|
|
|
NM_016203.4(PRKAG2):c.291C>A (p.Thr97=)
|
|
|
|
NM_016203.4(PRKAG2):c.303T>C (p.Ser101=)
|
rs774628602
|
|
|
NM_016203.4(PRKAG2):c.310A>G (p.Thr104Ala)
|
|
|
|
NM_016203.4(PRKAG2):c.321G>A (p.Pro107=)
|
|
|
|
NM_016203.4(PRKAG2):c.341C>T (p.Pro114Leu)
|
rs375174733
|
|
|
NM_016203.4(PRKAG2):c.347G>A (p.Arg116His)
|
rs369471907
|
|
|
NM_016203.4(PRKAG2):c.351C>T (p.Ser117=)
|
rs1048504272
|
|
|
NM_016203.4(PRKAG2):c.357A>G (p.Arg119=)
|
rs1586487326
|
|
|
NM_016203.4(PRKAG2):c.359G>A (p.Arg120His)
|
rs775756069
|
|
|
NM_016203.4(PRKAG2):c.375G>A (p.Gly125=)
|
rs748041666
|
|
|
NM_016203.4(PRKAG2):c.381C>T (p.Phe127=)
|
|
|
|
NM_016203.4(PRKAG2):c.389C>A (p.Ser130Tyr)
|
rs748790230
|
|
|
NM_016203.4(PRKAG2):c.396A>G (p.Lys132=)
|
|
|
|
NM_016203.4(PRKAG2):c.399G>A (p.Glu133=)
|
|
|
|
NM_016203.4(PRKAG2):c.402T>C (p.Ser134=)
|
|
|
|
NM_016203.4(PRKAG2):c.405C>T (p.Ser135=)
|
rs2151803247
|
|
|
NM_016203.4(PRKAG2):c.435G>C (p.Gly145=)
|
rs1432408242
|
|
|
NM_016203.4(PRKAG2):c.441C>A (p.Ile147=)
|
|
|
|
NM_016203.4(PRKAG2):c.466+11G>C
|
|
|
|
NM_016203.4(PRKAG2):c.466+19T>G
|
|
|
|
NM_016203.4(PRKAG2):c.466+8C>T
|
rs958349957
|
|
|
NM_016203.4(PRKAG2):c.467-10T>G
|
rs727503378
|
|
|
NM_016203.4(PRKAG2):c.467-16G>C
|
|
|
|
NM_016203.4(PRKAG2):c.467-19C>G
|
|
|
|
NM_016203.4(PRKAG2):c.467-41_467-18del
|
|
|
|
NM_016203.4(PRKAG2):c.471C>A (p.Ser157=)
|
rs141804012
|
|
|
NM_016203.4(PRKAG2):c.471C>T (p.Ser157=)
|
rs141804012
|
|
|
NM_016203.4(PRKAG2):c.477C>T (p.Leu159=)
|
rs1585681762
|
|
|
NM_016203.4(PRKAG2):c.47G>C (p.Ser16Thr)
|
|
|
|
NM_016203.4(PRKAG2):c.485C>G (p.Ser162Cys)
|
|
|
|
NM_016203.4(PRKAG2):c.492A>G (p.Ser164=)
|
|
|
|
NM_016203.4(PRKAG2):c.501C>A (p.Thr167=)
|
|
|
|
NM_016203.4(PRKAG2):c.510C>G (p.Thr170=)
|
|
|
|
NM_016203.4(PRKAG2):c.510C>T (p.Thr170=)
|
rs1209179957
|
|
|
NM_016203.4(PRKAG2):c.516G>A (p.Gln172=)
|
rs1022959045
|
|
|
NM_016203.4(PRKAG2):c.51C>T (p.Pro17=)
|
|
|
|
NM_016203.4(PRKAG2):c.528C>G (p.Pro176=)
|
|
|
|
NM_016203.4(PRKAG2):c.556C>T (p.Arg186Trp)
|
rs200392688
|
|
|
NM_016203.4(PRKAG2):c.571A>G (p.Ile191Val)
|
rs528201736
|
|
|
NM_016203.4(PRKAG2):c.575A>G (p.Tyr192Cys)
|
|
|
|
NM_016203.4(PRKAG2):c.585T>C (p.Ser195=)
|
|
|
|
NM_016203.4(PRKAG2):c.585T>G (p.Ser195=)
|
|
|
|
NM_016203.4(PRKAG2):c.591C>A (p.Pro197=)
|
rs587781126
|
|
|
NM_016203.4(PRKAG2):c.591C>G (p.Pro197=)
|
rs587781126
|
|
|
NM_016203.4(PRKAG2):c.593C>G (p.Pro198Arg)
|
rs41317142
|
|
|
NM_016203.4(PRKAG2):c.600A>G (p.Thr200=)
|
|
|
|
NM_016203.4(PRKAG2):c.609G>A (p.Arg203=)
|
rs2151476806
|
|
|
NM_016203.4(PRKAG2):c.612C>T (p.Phe204=)
|
rs2151476792
|
|
|
NM_016203.4(PRKAG2):c.618G>T (p.Pro206=)
|
rs145827515
|
|
|
NM_016203.4(PRKAG2):c.660G>T (p.Pro220=)
|
rs774279454
|
|
|
NM_016203.4(PRKAG2):c.66C>G (p.Gly22=)
|
rs730880971
|
|
|
NM_016203.4(PRKAG2):c.684+10G>C
|
|
|
|
NM_016203.4(PRKAG2):c.684+14C>G
|
|
|
|
NM_016203.4(PRKAG2):c.684+19G>A
|
|
|
|
NM_016203.4(PRKAG2):c.685-19TCC[3]
|
|
|
|
NM_016203.4(PRKAG2):c.685-19TCC[5]
|
rs1265462032
|
|
|
NM_016203.4(PRKAG2):c.685-20_685-18dup
|
|
|
|
NM_016203.4(PRKAG2):c.685-5C>T
|
rs779931367
|
|
|
NM_016203.4(PRKAG2):c.685-6C>T
|
rs772481251
|
|
|
NM_016203.4(PRKAG2):c.685-8C>T
|
rs397517279
|
|
|
NM_016203.4(PRKAG2):c.685-9C>A
|
|
|
|
NM_016203.4(PRKAG2):c.685-9C>T
|
rs1824696243
|
|
|
NM_016203.4(PRKAG2):c.690G>T (p.Ala230=)
|
rs756008063
|
|
|
NM_016203.4(PRKAG2):c.693G>A (p.Leu231=)
|
rs931540862
|
|
|
NM_016203.4(PRKAG2):c.711C>G (p.Pro237=)
|
|
|
|
NM_016203.4(PRKAG2):c.714G>C (p.Ala238=)
|
|
|
|
NM_016203.4(PRKAG2):c.720C>G (p.Ala240=)
|
rs752351250
|
|
|
NM_016203.4(PRKAG2):c.754+10C>A
|
|
|
|
NM_016203.4(PRKAG2):c.754+10C>T
|
rs1162430810
|
|
|
NM_016203.4(PRKAG2):c.754+11C>T
|
|
|
|
NM_016203.4(PRKAG2):c.754+17C>A
|
rs772286759
|
|
|
NM_016203.4(PRKAG2):c.754+17C>T
|
|
|
|
NM_016203.4(PRKAG2):c.754+18G>A
|
|
|
|
NM_016203.4(PRKAG2):c.754+19C>G
|
rs1824623715
|
|
|
NM_016203.4(PRKAG2):c.754+19_754+24del
|
rs1287642826
|
|
|
NM_016203.4(PRKAG2):c.755-10T>C
|
|
|
|
NM_016203.4(PRKAG2):c.755-18T>C
|
|
|
|
NM_016203.4(PRKAG2):c.755-19T>C
|
|
|
|
NM_016203.4(PRKAG2):c.755-7C>A
|
|
|
|
NM_016203.4(PRKAG2):c.762A>G (p.Glu254=)
|
rs1158352901
|
|
|
NM_016203.4(PRKAG2):c.777T>C (p.Gly259=)
|
|
|
|
NM_016203.4(PRKAG2):c.780T>A (p.Val260=)
|
rs2151134876
|
|
|
NM_016203.4(PRKAG2):c.798G>A (p.Arg266=)
|
rs2151134700
|
|
|
NM_016203.4(PRKAG2):c.807G>A (p.Lys269=)
|
rs727504618
|
|
|
NM_016203.4(PRKAG2):c.813T>C (p.Tyr271=)
|
|
|
|
NM_016203.4(PRKAG2):c.816C>T (p.Asp272=)
|
rs2151134561
|
|
|
NM_016203.4(PRKAG2):c.846C>T (p.Val282=)
|
rs1563213791
|
|
|
NM_016203.4(PRKAG2):c.852T>C (p.Asp284=)
|
|
|
|
NM_016203.4(PRKAG2):c.858A>T (p.Thr286=)
|
rs763018098
|
|
|
NM_016203.4(PRKAG2):c.861A>G (p.Leu287=)
|
rs2151134396
|
|
|
NM_016203.4(PRKAG2):c.864+10C>G
|
rs1554480836
|
|
|
NM_016203.4(PRKAG2):c.864+10C>T
|
|
|
|
NM_016203.4(PRKAG2):c.864+19C>T
|
|
|
|
NM_016203.4(PRKAG2):c.864+20A>T
|
|
|
|
NM_016203.4(PRKAG2):c.865-14del
|
rs750383082
|
|
|
NM_016203.4(PRKAG2):c.865-7T>G
|
rs1433226385
|
|
|
NM_016203.4(PRKAG2):c.876C>G (p.Ala292=)
|
rs781760634
|
|
|
NM_016203.4(PRKAG2):c.879C>T (p.Phe293=)
|
|
|
|
NM_016203.4(PRKAG2):c.87G>A (p.Lys29=)
|
rs2080410736
|
|
|
NM_016203.4(PRKAG2):c.885T>A (p.Ala295=)
|
rs1425474186
|
|
|
NM_016203.4(PRKAG2):c.900T>A (p.Gly300=)
|
rs1334497430
|
|
|
NM_016203.4(PRKAG2):c.904C>A (p.Arg302=)
|
|
|
|
NM_016203.4(PRKAG2):c.909A>C (p.Ala303=)
|
rs2151043022
|
|
|
NM_016203.4(PRKAG2):c.912G>A (p.Ala304=)
|
rs145029525
|
|
|
NM_016203.4(PRKAG2):c.912G>T (p.Ala304=)
|
rs145029525
|
|
|
NM_016203.4(PRKAG2):c.915A>C (p.Pro305=)
|
|
|
|
NM_016203.4(PRKAG2):c.915A>T (p.Pro305=)
|
rs998511488
|
|
|
NM_016203.4(PRKAG2):c.916C>T (p.Leu306=)
|
|
|
|
NM_016203.4(PRKAG2):c.924G>A (p.Glu308=)
|
|
|
|
NM_016203.4(PRKAG2):c.946+10G>A
|
|
|
|
NM_016203.4(PRKAG2):c.946+15C>T
|
|
|
|
NM_016203.4(PRKAG2):c.946+7A>G
|
rs2151042729
|
|
|
NM_016203.4(PRKAG2):c.946+8G>A
|
rs2151042715
|
|
|
NM_016203.4(PRKAG2):c.946+9T>C
|
|
|
|
NM_016203.4(PRKAG2):c.947-11C>G
|
rs1808531347
|
|
|
NM_016203.4(PRKAG2):c.947-15A>C
|
|
|
|
NM_016203.4(PRKAG2):c.947-18T>C
|
|
|
|
NM_016203.4(PRKAG2):c.947-19A>G
|
|
|
|
NM_016203.4(PRKAG2):c.947-7G>A
|
rs1554464198
|
|
|
NM_016203.4(PRKAG2):c.947-7G>C
|
|
|
|
NM_016203.4(PRKAG2):c.993T>C (p.Tyr331=)
|
rs397517284
|
|
|
NM_016203.4(PRKAG2):c.9C>T (p.Ser3=)
|
|
|
|
NM_016599.5(MYOZ2):c.159T>C (p.Arg53=)
|
rs1578729988
|
|
|
NM_016599.5(MYOZ2):c.252T>C (p.Ser84=)
|
|
|
|
NM_016599.5(MYOZ2):c.303G>T (p.Ser101=)
|
rs527258961
|
|
|
NM_016599.5(MYOZ2):c.377-15T>C
|
|
|
|
NM_016599.5(MYOZ2):c.441C>T (p.Tyr147=)
|
rs1337507818
|
|
|
NM_016599.5(MYOZ2):c.447A>G (p.Gln149=)
|
rs200077093
|
|
|
NM_016599.5(MYOZ2):c.519T>C (p.Pro173=)
|
|
|
|
NM_016599.5(MYOZ2):c.546C>T (p.Tyr182=)
|
|
|
|
NM_016599.5(MYOZ2):c.552C>T (p.Ser184=)
|
|
|
|
NM_016599.5(MYOZ2):c.561-7C>T
|
rs863224424
|
|
|
NM_016599.5(MYOZ2):c.688C>T (p.Arg230Trp)
|
rs372215131
|
|
|
NM_016599.5(MYOZ2):c.705T>C (p.Thr235=)
|
rs1578374385
|
|
|
NM_016599.5(MYOZ2):c.77-18A>G
|
|
|
|
NM_016599.5(MYOZ2):c.77-9G>A
|
rs2149221401
|
|
|
NM_016599.5(MYOZ2):c.792A>G (p.Leu264=)
|
rs1355854115
|
|
|
NM_020297.4(ABCC9):c.1011+7T>C
|
rs1224367944
|
|
|
NM_020297.4(ABCC9):c.1012-13C>A
|
|
|
|
NM_020297.4(ABCC9):c.1012-14del
|
rs727505105
|
|
|
NM_020297.4(ABCC9):c.1012-18T>C
|
|
|
|
NM_020297.4(ABCC9):c.1012-4C>A
|
|
|
|
NM_020297.4(ABCC9):c.1023C>G (p.Thr341=)
|
|
|
|
NM_020297.4(ABCC9):c.1029A>G (p.Ser343=)
|
rs1169246931
|
|
|
NM_020297.4(ABCC9):c.1038A>G (p.Glu346=)
|
rs1948295394
|
|
|
NM_020297.4(ABCC9):c.105C>G (p.Val35=)
|
|
|
|
NM_020297.4(ABCC9):c.1062A>G (p.Leu354=)
|
rs1555114097
|
|
|
NM_020297.4(ABCC9):c.1137T>A (p.Thr379=)
|
|
|
|
NM_020297.4(ABCC9):c.1137T>C (p.Thr379=)
|
rs1389562014
|
|
|
NM_020297.4(ABCC9):c.1143T>C (p.Ile381=)
|
|
|
|
NM_020297.4(ABCC9):c.1152T>C (p.Arg384=)
|
rs1414162483
|
|
|
NM_020297.4(ABCC9):c.1158T>A (p.Ala386=)
|
|
|
|
NM_020297.4(ABCC9):c.1164+20A>G
|
|
|
|
NM_020297.4(ABCC9):c.1165-16T>G
|
rs2137870031
|
|
|
NM_020297.4(ABCC9):c.1165-20C>T
|
|
|
|
NM_020297.4(ABCC9):c.1165-20_1165-19del
|
|
|
|
NM_020297.4(ABCC9):c.1218G>A (p.Gly406=)
|
|
|
|
NM_020297.4(ABCC9):c.1251C>A (p.Val417=)
|
|
|
|
NM_020297.4(ABCC9):c.1288C>T (p.Leu430=)
|
|
|
|
NM_020297.4(ABCC9):c.1317T>G (p.Val439=)
|
|
|
|
NM_020297.4(ABCC9):c.1320+10T>C
|
|
|
|
NM_020297.4(ABCC9):c.1320+17A>G
|
|
|
|
NM_020297.4(ABCC9):c.1321-5T>C
|
|
|
|
NM_020297.4(ABCC9):c.133T>C (p.Leu45=)
|
rs1555125400
|
|
|
NM_020297.4(ABCC9):c.1359A>C (p.Gly453=)
|
rs2137851952
|
|
|
NM_020297.4(ABCC9):c.142+13G>C
|
|
|
|
NM_020297.4(ABCC9):c.142+13G>T
|
|
|
|
NM_020297.4(ABCC9):c.143-5T>C
|
|
|
|
NM_020297.4(ABCC9):c.1446A>G (p.Lys482=)
|
rs2137851181
|
|
|
NM_020297.4(ABCC9):c.144G>A (p.Gly48=)
|
|
|
|
NM_020297.4(ABCC9):c.1455+19A>C
|
|
|
|
NM_020297.4(ABCC9):c.1456-10del
|
rs763459861
|
|
|
NM_020297.4(ABCC9):c.1519T>C (p.Leu507=)
|
|
|
|
NM_020297.4(ABCC9):c.1524T>C (p.Tyr508=)
|
rs1555112390
|
|
|
NM_020297.4(ABCC9):c.1545C>T (p.Cys515=)
|
|
|
|
NM_020297.4(ABCC9):c.1602A>G (p.Leu534=)
|
|
|
|
NM_020297.4(ABCC9):c.1618+7T>G
|
rs1948035927
|
|
|
NM_020297.4(ABCC9):c.1619-12T>G
|
|
|
|
NM_020297.4(ABCC9):c.1619-20C>A
|
rs1357942810
|
|
|
NM_020297.4(ABCC9):c.1629T>C (p.Asn543=)
|
|
|
|
NM_020297.4(ABCC9):c.1659+12_1659+14dup
|
rs1251493509
|
|
|
NM_020297.4(ABCC9):c.1659+13_1659+14del
|
|
|
|
NM_020297.4(ABCC9):c.1659+19C>A
|
|
|
|
NM_020297.4(ABCC9):c.1659+9C>T
|
rs1947346001
|
|
|
NM_020297.4(ABCC9):c.1660-11T>A
|
|
|
|
NM_020297.4(ABCC9):c.1660-7dup
|
rs1592166889
|
|
|
NM_020297.4(ABCC9):c.1662A>G (p.Thr554=)
|
|
|
|
NM_020297.4(ABCC9):c.1671C>T (p.Thr557=)
|
rs746467455
|
|
|
NM_020297.4(ABCC9):c.1674T>C (p.His558=)
|
rs1274940649
|
|
|
NM_020297.4(ABCC9):c.1689A>G (p.Gly563=)
|
|
|
|
NM_020297.4(ABCC9):c.1701A>G (p.Lys567=)
|
|
|
|
NM_020297.4(ABCC9):c.1704T>A (p.Pro568=)
|
rs1317064787
|
|
|
NM_020297.4(ABCC9):c.1719T>C (p.Ala573=)
|
|
|
|
NM_020297.4(ABCC9):c.1737T>C (p.His579=)
|
rs2137738152
|
|
|
NM_020297.4(ABCC9):c.177C>T (p.His59=)
|
rs2138061197
|
|
|
NM_020297.4(ABCC9):c.1785A>G (p.Ala595=)
|
rs1555106091
|
|
|
NM_020297.4(ABCC9):c.1802+10G>A
|
rs375266389
|
|
|
NM_020297.4(ABCC9):c.1802+16T>C
|
|
|
|
NM_020297.4(ABCC9):c.1802+17C>G
|
|
|
|
NM_020297.4(ABCC9):c.1802+7A>T
|
|
|
|
NM_020297.4(ABCC9):c.1802+8C>T
|
rs2137737621
|
|
|
NM_020297.4(ABCC9):c.1802+9T>G
|
rs1209168440
|
|
|
NM_020297.4(ABCC9):c.1803-8T>A
|
|
|
|
NM_020297.4(ABCC9):c.1845T>G (p.Gly615=)
|
|
|
|
NM_020297.4(ABCC9):c.1858C>A (p.Arg620=)
|
|
|
|
NM_020297.4(ABCC9):c.1863T>C (p.Thr621=)
|
rs577810106
|
|
|
NM_020297.4(ABCC9):c.1875G>T (p.Ser625=)
|
rs727502873
|
|
|
NM_020297.4(ABCC9):c.1878T>A (p.Leu626=)
|
rs969420645
|
|
|
NM_020297.4(ABCC9):c.1878T>C (p.Leu626=)
|
|
|
|
NM_020297.4(ABCC9):c.1911+13T>C
|
|
|
|
NM_020297.4(ABCC9):c.1911+8C>T
|
|
|
|
NM_020297.4(ABCC9):c.1912-12T>C
|
rs779165053
|
|
|
NM_020297.4(ABCC9):c.1912-20C>G
|
|
|
|
NM_020297.4(ABCC9):c.1912-4G>A
|
|
|
|
NM_020297.4(ABCC9):c.1912-6A>T
|
|
|
|
NM_020297.4(ABCC9):c.1923T>C (p.Thr641=)
|
|
|
|
NM_020297.4(ABCC9):c.192T>C (p.Leu64=)
|
rs1592270142
|
|
|
NM_020297.4(ABCC9):c.1980G>A (p.Arg660=)
|
rs2137655267
|
|
|
NM_020297.4(ABCC9):c.1992C>T (p.Pro664=)
|
rs780071007
|
|
|
NM_020297.4(ABCC9):c.2001A>G (p.Thr667=)
|
rs549032386
|
|
|
NM_020297.4(ABCC9):c.2019+13T>A
|
|
|
|
NM_020297.4(ABCC9):c.2019+8T>C
|
|
|
|
NM_020297.4(ABCC9):c.2020-15A>G
|
|
|
|
NM_020297.4(ABCC9):c.2020-17G>A
|
rs2137603454
|
|
|
NM_020297.4(ABCC9):c.2020-19C>A
|
|
|
|
NM_020297.4(ABCC9):c.2020-24_2020-20del
|
|
|
|
NM_020297.4(ABCC9):c.2020-4G>T
|
rs372226458
|
|
|
NM_020297.4(ABCC9):c.2025A>G (p.Thr675=)
|
|
|
|
NM_020297.4(ABCC9):c.2028T>C (p.Asn676=)
|
|
|
|
NM_020297.4(ABCC9):c.2058T>G (p.Ala686=)
|
|
|
|
NM_020297.4(ABCC9):c.2062T>C (p.Leu688=)
|
|
|
|
NM_020297.4(ABCC9):c.2092+18T>C
|
|
|
|
NM_020297.4(ABCC9):c.2092+19G>T
|
|
|
|
NM_020297.4(ABCC9):c.2092+20C>A
|
|
|
|
NM_020297.4(ABCC9):c.2092+7G>C
|
|
|
|
NM_020297.4(ABCC9):c.2092+9_2092+11dup
|
|
|
|
NM_020297.4(ABCC9):c.2093-15G>C
|
rs909888885
|
|
|
NM_020297.4(ABCC9):c.2121A>G (p.Val707=)
|
|
|
|
NM_020297.4(ABCC9):c.2130G>A (p.Gly710=)
|
|
|
|
NM_020297.4(ABCC9):c.2151C>T (p.Ala717=)
|
|
|
|
NM_020297.4(ABCC9):c.2184A>G (p.Lys728=)
|
|
|
|
NM_020297.4(ABCC9):c.2198+19G>A
|
rs1346791116
|
|
|
NM_020297.4(ABCC9):c.2198+20G>C
|
rs748756001
|
|
|
NM_020297.4(ABCC9):c.2198+7A>G
|
rs376649913
|
|
|
NM_020297.4(ABCC9):c.2199-19T>C
|
|
|
|
NM_020297.4(ABCC9):c.2199-20A>G
|
rs2137529988
|
|
|
NM_020297.4(ABCC9):c.2199-5T>C
|
rs2137529774
|
|
|
NM_020297.4(ABCC9):c.2199-7C>T
|
rs772185332
|
|
|
NM_020297.4(ABCC9):c.2238-19_2238-17del
|
|
|
|
NM_020297.4(ABCC9):c.2271A>G (p.Gln757=)
|
|
|
|
NM_020297.4(ABCC9):c.2339+14T>C
|
|
|
|
NM_020297.4(ABCC9):c.2339+16T>C
|
|
|
|
NM_020297.4(ABCC9):c.2339+20A>G
|
|
|
|
NM_020297.4(ABCC9):c.2340-6C>T
|
rs2137505837
|
|
|
NM_020297.4(ABCC9):c.2340-9C>T
|
|
|
|
NM_020297.4(ABCC9):c.238C>T (p.Leu80=)
|
|
|
|
NM_020297.4(ABCC9):c.2409T>A (p.Thr803=)
|
rs772727573
|
|
|
NM_020297.4(ABCC9):c.240G>T (p.Leu80=)
|
rs1391578722
|
|
|
NM_020297.4(ABCC9):c.2424+11T>C
|
|
|
|
NM_020297.4(ABCC9):c.2424+15G>A
|
|
|
|
NM_020297.4(ABCC9):c.2424+16T>A
|
rs1945473499
|
|
|
NM_020297.4(ABCC9):c.2424+16T>C
|
|
|
|
NM_020297.4(ABCC9):c.2424+20A>C
|
|
|
|
NM_020297.4(ABCC9):c.2425-15G>A
|
|
|
|
NM_020297.4(ABCC9):c.2425-16G>T
|
|
|
|
NM_020297.4(ABCC9):c.2425-6C>T
|
rs2137495899
|
|
|
NM_020297.4(ABCC9):c.2433C>T (p.Asn811=)
|
|
|
|
NM_020297.4(ABCC9):c.2448G>A (p.Gln816=)
|
|
|
|
NM_020297.4(ABCC9):c.2451G>A (p.Arg817=)
|
|
|
|
NM_020297.4(ABCC9):c.2454G>A (p.Gln818=)
|
rs1945404296
|
|
|
NM_020297.4(ABCC9):c.246G>A (p.Val82=)
|
|
|
|
NM_020297.4(ABCC9):c.2470C>A (p.Arg824=)
|
rs779866340
|
|
|
NM_020297.4(ABCC9):c.2475G>A (p.Ala825=)
|
rs587780845
|
|
|
NM_020297.4(ABCC9):c.2475G>T (p.Ala825=)
|
rs587780845
|
|
|
NM_020297.4(ABCC9):c.2487C>T (p.Asn829=)
|
rs756699664
|
|
|
NM_020297.4(ABCC9):c.2496T>C (p.Ile832=)
|
|
|
|
NM_020297.4(ABCC9):c.2505+11G>C
|
|
|
|
NM_020297.4(ABCC9):c.2505+13C>T
|
|
|
|
NM_020297.4(ABCC9):c.2505+18C>G
|
|
|
|
NM_020297.4(ABCC9):c.2505+19C>T
|
|
|
|
NM_020297.4(ABCC9):c.2506-4G>A
|
rs2137444399
|
|
|
NM_020297.4(ABCC9):c.2506-6T>C
|
|
|
|
NM_020297.4(ABCC9):c.2508T>C (p.Asp836=)
|
|
|
|
NM_020297.4(ABCC9):c.2511T>C (p.Asp837=)
|
|
|
|
NM_020297.4(ABCC9):c.2568G>A (p.Leu856=)
|
|
|
|
NM_020297.4(ABCC9):c.2592G>A (p.Arg864=)
|
|
|
|
NM_020297.4(ABCC9):c.261A>C (p.Ile87=)
|
|
|
|
NM_020297.4(ABCC9):c.2622G>A (p.Gln874=)
|
rs780938779
|
|
|
NM_020297.4(ABCC9):c.2631G>T (p.Thr877=)
|
|
|
|
NM_020297.4(ABCC9):c.2643+12G>A
|
|
|
|
NM_020297.4(ABCC9):c.2644-11G>C
|
rs61926078
|
|
|
NM_020297.4(ABCC9):c.2644-11G>T
|
|
|
|
NM_020297.4(ABCC9):c.2661T>C (p.Asp887=)
|
|
|
|
NM_020297.4(ABCC9):c.2703C>A (p.Thr901=)
|
rs1000035870
|
|
|
NM_020297.4(ABCC9):c.2709T>C (p.Asp903=)
|
|
|
|
NM_020297.4(ABCC9):c.2751A>G (p.Gln917=)
|
rs1285639817
|
|
|
NM_020297.4(ABCC9):c.2769+10C>T
|
|
|
|
NM_020297.4(ABCC9):c.2769+15T>C
|
|
|
|
NM_020297.4(ABCC9):c.2769+16T>A
|
rs2137440535
|
|
|
NM_020297.4(ABCC9):c.2769+17C>A
|
|
|
|
NM_020297.4(ABCC9):c.2769+19G>A
|
|
|
|
NM_020297.4(ABCC9):c.2769+20A>T
|
rs1944998336
|
|
|
NM_020297.4(ABCC9):c.2770-20T>C
|
|
|
|
NM_020297.4(ABCC9):c.2770-6del
|
|
|
|
NM_020297.4(ABCC9):c.2770-7A>T
|
|
|
|
NM_020297.4(ABCC9):c.2799G>A (p.Glu933=)
|
rs1565735141
|
|
|
NM_020297.4(ABCC9):c.2802G>A (p.Arg934=)
|
|
|
|
NM_020297.4(ABCC9):c.2811C>G (p.Leu937=)
|
|
|
|
NM_020297.4(ABCC9):c.2815C>A (p.Arg939=)
|
rs373890183
|
|
|
NM_020297.4(ABCC9):c.2832A>G (p.Arg944=)
|
|
|
|
NM_020297.4(ABCC9):c.284+10C>A
|
|
|
|
NM_020297.4(ABCC9):c.284+13A>G
|
|
|
|
NM_020297.4(ABCC9):c.284+9T>C
|
|
|
|
NM_020297.4(ABCC9):c.2841A>G (p.Lys947=)
|
|
|
|
NM_020297.4(ABCC9):c.285-15_285-14dup
|
|
|
|
NM_020297.4(ABCC9):c.2866+20T>A
|
|
|
|
NM_020297.4(ABCC9):c.2866+3A>G
|
|
|
|
NM_020297.4(ABCC9):c.2866+7C>A
|
|
|
|
NM_020297.4(ABCC9):c.2867-14T>A
|
|
|
|
NM_020297.4(ABCC9):c.2867-18A>G
|
rs1231305461
|
|
|
NM_020297.4(ABCC9):c.2867-20C>G
|
|
|
|
NM_020297.4(ABCC9):c.2898C>T (p.Asn966=)
|
|
|
|
NM_020297.4(ABCC9):c.294A>G (p.Glu98=)
|
rs1466134448
|
|
|
NM_020297.4(ABCC9):c.2961A>G (p.Thr987=)
|
rs1555187333
|
|
|
NM_020297.4(ABCC9):c.2986C>T (p.Leu996=)
|
|
|
|
NM_020297.4(ABCC9):c.3009G>A (p.Leu1003=)
|
rs2137395305
|
|
|
NM_020297.4(ABCC9):c.3012G>A (p.Lys1004=)
|
rs2137395287
|
|
|
NM_020297.4(ABCC9):c.3036C>T (p.Asp1012=)
|
|
|
|
NM_020297.4(ABCC9):c.3063G>A (p.Glu1021=)
|
rs1555187269
|
|
|
NM_020297.4(ABCC9):c.3075C>T (p.Asn1025=)
|
rs1360363021
|
|
|
NM_020297.4(ABCC9):c.3096+14G>A
|
rs376392187
|
|
|
NM_020297.4(ABCC9):c.3096+16T>A
|
|
|
|
NM_020297.4(ABCC9):c.3096+18T>C
|
|
|
|
NM_020297.4(ABCC9):c.3096+9G>C
|
rs765048337
|
|
|
NM_020297.4(ABCC9):c.309C>T (p.His103=)
|
rs2138000179
|
|
|
NM_020297.4(ABCC9):c.3153T>C (p.Leu1051=)
|
|
|
|
NM_020297.4(ABCC9):c.3168T>C (p.Thr1056=)
|
|
|
|
NM_020297.4(ABCC9):c.3204T>C (p.Leu1068=)
|
rs2137388063
|
|
|
NM_020297.4(ABCC9):c.3210C>T (p.His1070=)
|
|
|
|
NM_020297.4(ABCC9):c.3213C>T (p.Asn1071=)
|
|
|
|
NM_020297.4(ABCC9):c.3231C>A (p.Ile1077=)
|
|
|
|
NM_020297.4(ABCC9):c.3246-12T>A
|
|
|
|
NM_020297.4(ABCC9):c.3246-5C>T
|
|
|
|
NM_020297.4(ABCC9):c.3270A>T (p.Gly1090=)
|
|
|
|
NM_020297.4(ABCC9):c.3273G>A (p.Leu1091=)
|
rs144325590
|
|
|
NM_020297.4(ABCC9):c.327G>T (p.Val109=)
|
|
|
|
NM_020297.4(ABCC9):c.3315+10T>G
|
|
|
|
NM_020297.4(ABCC9):c.3315+13G>C
|
|
|
|
NM_020297.4(ABCC9):c.3315+7A>T
|
|
|
|
NM_020297.4(ABCC9):c.3315+8A>G
|
|
|
|
NM_020297.4(ABCC9):c.3315+9C>A
|
rs547388535
|
|
|
NM_020297.4(ABCC9):c.3316-19T>C
|
|
|
|
NM_020297.4(ABCC9):c.3316-7C>T
|
|
|
|
NM_020297.4(ABCC9):c.3336A>G (p.Glu1112=)
|
rs1356618477
|
|
|
NM_020297.4(ABCC9):c.3345T>C (p.Thr1115=)
|
rs2137371614
|
|
|
NM_020297.4(ABCC9):c.336C>T (p.Phe112=)
|
|
|
|
NM_020297.4(ABCC9):c.3390T>C (p.Tyr1130=)
|
rs1443210983
|
|
|
NM_020297.4(ABCC9):c.3402G>A (p.Val1134=)
|
|
|
|
NM_020297.4(ABCC9):c.3420G>A (p.Leu1140=)
|
rs1944436441
|
|
|
NM_020297.4(ABCC9):c.3435C>A (p.Ala1145=)
|
rs373381644
|
|
|
NM_020297.4(ABCC9):c.3473+13G>C
|
|
|
|
NM_020297.4(ABCC9):c.3473+18C>A
|
|
|
|
NM_020297.4(ABCC9):c.3473+19C>T
|
|
|
|
NM_020297.4(ABCC9):c.3474-10T>C
|
rs1175271155
|
|
|
NM_020297.4(ABCC9):c.3474-11C>A
|
|
|
|
NM_020297.4(ABCC9):c.3474-11C>G
|
|
|
|
NM_020297.4(ABCC9):c.3474-15C>G
|
|
|
|
NM_020297.4(ABCC9):c.3480C>T (p.Leu1160=)
|
rs2137338578
|
|
|
NM_020297.4(ABCC9):c.3498T>C (p.Ser1166=)
|
|
|
|
NM_020297.4(ABCC9):c.3552C>G (p.Thr1184=)
|
|
|
|
NM_020297.4(ABCC9):c.3556C>A (p.Arg1186=)
|
rs886049169
|
|
|
NM_020297.4(ABCC9):c.3561C>A (p.Ala1187=)
|
|
|
|
NM_020297.4(ABCC9):c.3566+18T>C
|
rs1944193551
|
|
|
NM_020297.4(ABCC9):c.3567-19G>A
|
|
|
|
NM_020297.4(ABCC9):c.3567-20C>T
|
rs74735818
|
|
|
NM_020297.4(ABCC9):c.3567-9T>C
|
|
|
|
NM_020297.4(ABCC9):c.3582T>C (p.Phe1194=)
|
|
|
|
NM_020297.4(ABCC9):c.3591T>C (p.Arg1197=)
|
rs1303354887
|
|
|
NM_020297.4(ABCC9):c.3597G>A (p.Leu1199=)
|
|
|
|
NM_020297.4(ABCC9):c.3606G>C (p.Thr1202=)
|
rs143316915
|
|
|
NM_020297.4(ABCC9):c.363T>C (p.Tyr121=)
|
rs935662328
|
|
|
NM_020297.4(ABCC9):c.3669+7T>A
|
rs1183466743
|
|
|
NM_020297.4(ABCC9):c.366T>C (p.Tyr122=)
|
rs886049174
|
|
|
NM_020297.4(ABCC9):c.3670-15C>G
|
|
|
|
NM_020297.4(ABCC9):c.3670-15C>T
|
|
|
|
NM_020297.4(ABCC9):c.3670-16T>A
|
|
|
|
NM_020297.4(ABCC9):c.3670-18T>G
|
|
|
|
NM_020297.4(ABCC9):c.3670-20T>G
|
|
|
|
NM_020297.4(ABCC9):c.3670-4A>G
|
rs2137195297
|
|
|
NM_020297.4(ABCC9):c.3693C>T (p.Val1231=)
|
|
|
|
NM_020297.4(ABCC9):c.3729G>C (p.Ser1243=)
|
|
|
|
NM_020297.4(ABCC9):c.3759G>C (p.Leu1253=)
|
rs1344118696
|
|
|
NM_020297.4(ABCC9):c.3762T>C (p.Tyr1254=)
|
|
|
|
NM_020297.4(ABCC9):c.3771+17A>G
|
rs2137194428
|
|
|
NM_020297.4(ABCC9):c.3772-10C>A
|
rs1315658031
|
|
|
NM_020297.4(ABCC9):c.3772-11A>C
|
|
|
|
NM_020297.4(ABCC9):c.3772-7G>T
|
rs1220017831
|
|
|
NM_020297.4(ABCC9):c.3804C>T (p.Asn1268=)
|
rs1942708107
|
|
|
NM_020297.4(ABCC9):c.3888A>C (p.Thr1296=)
|
|
|
|
NM_020297.4(ABCC9):c.3892+16T>C
|
|
|
|
NM_020297.4(ABCC9):c.3892+20T>G
|
|
|
|
NM_020297.4(ABCC9):c.3892+7C>T
|
|
|
|
NM_020297.4(ABCC9):c.3893-12C>T
|
|
|
|
NM_020297.4(ABCC9):c.3893-18C>G
|
|
|
|
NM_020297.4(ABCC9):c.3893-19_3893-15del
|
rs1942583418
|
|
|
NM_020297.4(ABCC9):c.3893-7C>T
|
rs769051998
|
|
|
NM_020297.4(ABCC9):c.3957C>T (p.Val1319=)
|
rs778660636
|
|
|
NM_020297.4(ABCC9):c.3963T>C (p.Tyr1321=)
|
rs2137174129
|
|
|
NM_020297.4(ABCC9):c.3984T>C (p.Val1328=)
|
rs1942576317
|
|
|
NM_020297.4(ABCC9):c.3999G>A (p.Lys1333=)
|
rs1555178738
|
|
|
NM_020297.4(ABCC9):c.4014T>C (p.Pro1338=)
|
rs1555178731
|
|
|
NM_020297.4(ABCC9):c.4023+10C>G
|
rs1591962621
|
|
|
NM_020297.4(ABCC9):c.4023+12C>T
|
rs749922949
|
|
|
NM_020297.4(ABCC9):c.4023+13T>G
|
|
|
|
NM_020297.4(ABCC9):c.4023+15C>T
|
|
|
|
NM_020297.4(ABCC9):c.4044T>A (p.Thr1348=)
|
|
|
|
NM_020297.4(ABCC9):c.4059A>T (p.Ser1353=)
|
|
|
|
NM_020297.4(ABCC9):c.406+16T>G
|
|
|
|
NM_020297.4(ABCC9):c.407-12T>G
|
rs2137930216
|
|
|
NM_020297.4(ABCC9):c.407-13T>G
|
rs199717786
|
|
|
NM_020297.4(ABCC9):c.407-15T>C
|
|
|
|
NM_020297.4(ABCC9):c.407-5T>C
|
rs1948628627
|
|
|
NM_020297.4(ABCC9):c.408C>T (p.Ala136=)
|
|
|
|
NM_020297.4(ABCC9):c.409C>T (p.Leu137=)
|
|
|
|
NM_020297.4(ABCC9):c.4102+9C>T
|
rs1942483437
|
|
|
NM_020297.4(ABCC9):c.4103-12T>C
|
rs2137149143
|
|
|
NM_020297.4(ABCC9):c.4119T>C (p.Asp1373=)
|
|
|
|
NM_020297.4(ABCC9):c.411G>A (p.Leu137=)
|
rs368753369
|
|
|
NM_020297.4(ABCC9):c.411G>C (p.Leu137=)
|
|
|
|
NM_020297.4(ABCC9):c.4146G>A (p.Leu1382=)
|
rs374672511
|
|
|
NM_020297.4(ABCC9):c.4194A>G (p.Leu1398=)
|
rs2137148458
|
|
|
NM_020297.4(ABCC9):c.4209T>C (p.Ile1403=)
|
rs1942280044
|
|
|
NM_020297.4(ABCC9):c.4212-15A>G
|
|
|
|
NM_020297.4(ABCC9):c.4254C>G (p.Leu1418=)
|
|
|
|
NM_020297.4(ABCC9):c.4315+17G>C
|
|
|
|
NM_020297.4(ABCC9):c.4315+19A>G
|
rs375336717
|
|
|
NM_020297.4(ABCC9):c.4315+7T>A
|
|
|
|
NM_020297.4(ABCC9):c.4316-11C>T
|
|
|
|
NM_020297.4(ABCC9):c.4316-15C>T
|
|
|
|
NM_020297.4(ABCC9):c.4316-19G>A
|
|
|
|
NM_020297.4(ABCC9):c.4341G>A (p.Glu1447=)
|
|
|
|
NM_020297.4(ABCC9):c.4437T>A (p.Ile1479=)
|
|
|
|
NM_020297.4(ABCC9):c.4449+18G>A
|
|
|
|
NM_020297.4(ABCC9):c.4449+18G>C
|
|
|
|
NM_020297.4(ABCC9):c.4449+7G>T
|
|
|
|
NM_020297.4(ABCC9):c.4450-10T>C
|
|
|
|
NM_020297.4(ABCC9):c.4450-11T>C
|
|
|
|
NM_020297.4(ABCC9):c.4450-17_4450-16del
|
|
|
|
NM_020297.4(ABCC9):c.4450-18A>C
|
|
|
|
NM_020297.4(ABCC9):c.4450-19C>T
|
|
|
|
NM_020297.4(ABCC9):c.4450-8T>C
|
|
|
|
NM_020297.4(ABCC9):c.4464A>G (p.Gln1488=)
|
|
|
|
NM_020297.4(ABCC9):c.4492C>A (p.Arg1498=)
|
rs1020626669
|
|
|
NM_020297.4(ABCC9):c.4512+10A>G
|
rs752169396
|
|
|
NM_020297.4(ABCC9):c.4512+17G>A
|
|
|
|
NM_020297.4(ABCC9):c.4512+666_4512+668del
|
rs746678905
|
|
|
NM_020297.4(ABCC9):c.4512+667T>C
|
|
|
|
NM_020297.4(ABCC9):c.4512+668_4512+672del
|
|
|
|
NM_020297.4(ABCC9):c.4512+671C>T
|
|
|
|
NM_020297.4(ABCC9):c.4512+672T>C
|
|
|
|
NM_020297.4(ABCC9):c.4512+673A>G
|
|
|
|
NM_020297.4(ABCC9):c.4512+679C>T
|
rs1591928188
|
|
|
NM_020297.4(ABCC9):c.4512+743_4512+744insAAA
|
|
|
|
NM_020297.4(ABCC9):c.4512+746_4512+747insT
|
rs761784169
|
|
|
NM_020297.4(ABCC9):c.4512+782C>T
|
rs1356003940
|
|
|
NM_020297.4(ABCC9):c.4512+815C>A
|
|
|
|
NM_020297.4(ABCC9):c.4512+824G>A
|
|
|
|
NM_020297.4(ABCC9):c.4512+8T>C
|
|
|
|
NM_020297.4(ABCC9):c.454T>C (p.Leu152=)
|
rs1415365495
|
|
|
NM_020297.4(ABCC9):c.471G>A (p.Gln157=)
|
rs2137929434
|
|
|
NM_020297.4(ABCC9):c.492C>T (p.Asn164=)
|
|
|
|
NM_020297.4(ABCC9):c.495G>A (p.Leu165=)
|
|
|
|
NM_020297.4(ABCC9):c.522C>A (p.Val174=)
|
rs1592230207
|
|
|
NM_020297.4(ABCC9):c.537C>A (p.Leu179=)
|
|
|
|
NM_020297.4(ABCC9):c.565C>T (p.Arg189Ter)
|
|
|
|
NM_020297.4(ABCC9):c.573+12A>C
|
rs767155863
|
|
|
NM_020297.4(ABCC9):c.573+13T>C
|
|
|
|
NM_020297.4(ABCC9):c.576A>G (p.Arg192=)
|
|
|
|
NM_020297.4(ABCC9):c.58C>T (p.Leu20=)
|
|
|
|
NM_020297.4(ABCC9):c.639G>A (p.Val213=)
|
rs1213285317
|
|
|
NM_020297.4(ABCC9):c.66T>C (p.Asn22=)
|
rs1591760938
|
|
|
NM_020297.4(ABCC9):c.684C>T (p.Tyr228=)
|
|
|
|
NM_020297.4(ABCC9):c.6C>T (p.Ser2=)
|
rs765382139
|
|
|
NM_020297.4(ABCC9):c.732T>C (p.Asp244=)
|
|
|
|
NM_020297.4(ABCC9):c.733C>T (p.Leu245=)
|
rs2137920700
|
|
|
NM_020297.4(ABCC9):c.751T>C (p.Leu251=)
|
rs2137920508
|
|
|
NM_020297.4(ABCC9):c.795A>G (p.Lys265=)
|
rs1948574298
|
|
|
NM_020297.4(ABCC9):c.804T>C (p.Tyr268=)
|
rs2137919950
|
|
|
NM_020297.4(ABCC9):c.816+12T>C
|
|
|
|
NM_020297.4(ABCC9):c.816+14T>G
|
|
|
|
NM_020297.4(ABCC9):c.817-14_817-4del
|
rs774857795
|
|
|
NM_020297.4(ABCC9):c.817-17_817-14del
|
|
|
|
NM_020297.4(ABCC9):c.817-17_817-15del
|
rs2137892949
|
|
|
NM_020297.4(ABCC9):c.817-20T>C
|
rs1407515504
|
|
|
NM_020297.4(ABCC9):c.817-6dup
|
rs2137892744
|
|
|
NM_020297.4(ABCC9):c.846T>C (p.Thr282=)
|
rs747683989
|
|
|
NM_020297.4(ABCC9):c.849A>G (p.Pro283=)
|
|
|
|
NM_020297.4(ABCC9):c.870C>T (p.Tyr290=)
|
|
|
|
NM_020297.4(ABCC9):c.883C>A (p.Arg295=)
|
|
|
|
NM_020297.4(ABCC9):c.921T>C (p.Ala307=)
|
rs2137891406
|
|
|
NM_020297.4(ABCC9):c.999T>C (p.Asn333=)
|
rs1347562799
|
|
|
NM_020297.4(ABCC9):c.99T>G (p.Pro33=)
|
rs1591760857
|
|
|
NM_020433.5(JPH2):c.1017C>G (p.Gly339=)
|
|
|
|
NM_020433.5(JPH2):c.1089C>T (p.Arg363=)
|
|
|
|
NM_020433.5(JPH2):c.108C>A (p.Gly36=)
|
|
|
|
NM_020433.5(JPH2):c.108C>T (p.Gly36=)
|
|
|
|
NM_020433.5(JPH2):c.1131T>A (p.Ala377=)
|
|
|
|
NM_020433.5(JPH2):c.1140G>A (p.Ala380=)
|
|
|
|
NM_020433.5(JPH2):c.1149G>A (p.Lys383=)
|
rs754243118
|
|
|
NM_020433.5(JPH2):c.1161C>T (p.Ala387=)
|
|
|
|
NM_020433.5(JPH2):c.1169+11G>A
|
|
|
|
NM_020433.5(JPH2):c.1169+16G>A
|
rs375515254
|
|
|
NM_020433.5(JPH2):c.1169+16G>C
|
rs375515254
|
|
|
NM_020433.5(JPH2):c.1169+16G>T
|
|
|
|
NM_020433.5(JPH2):c.1169+20G>T
|
|
|
|
NM_020433.5(JPH2):c.1169+8A>G
|
rs1172047219
|
|
|
NM_020433.5(JPH2):c.1170-17C>A
|
|
|
|
NM_020433.5(JPH2):c.1173A>G (p.Thr391=)
|
|
|
|
NM_020433.5(JPH2):c.1188C>G (p.Ala396=)
|
|
|
|
NM_020433.5(JPH2):c.1212C>A (p.Ala404=)
|
|
|
|
NM_020433.5(JPH2):c.1288+10G>C
|
|
|
|
NM_020433.5(JPH2):c.1288+13A>G
|
|
|
|
NM_020433.5(JPH2):c.1288+19G>A
|
|
|
|
NM_020433.5(JPH2):c.1288+20G>A
|
|
|
|
NM_020433.5(JPH2):c.1288+8_1288+36del
|
|
|
|
NM_020433.5(JPH2):c.1289-13G>C
|
|
|
|
NM_020433.5(JPH2):c.1311G>T (p.Arg437=)
|
|
|
|
NM_020433.5(JPH2):c.1314G>A (p.Leu438=)
|
|
|
|
NM_020433.5(JPH2):c.1326C>T (p.Ile442=)
|
rs2145838921
|
|
|
NM_020433.5(JPH2):c.1353G>A (p.Glu451=)
|
|
|
|
NM_020433.5(JPH2):c.1363C>A (p.Arg455=)
|
|
|
|
NM_020433.5(JPH2):c.1386C>T (p.Leu462=)
|
|
|
|
NM_020433.5(JPH2):c.1410G>T (p.Pro470=)
|
rs751126526
|
|
|
NM_020433.5(JPH2):c.1419C>T (p.His473=)
|
rs1471827464
|
|
|
NM_020433.5(JPH2):c.1435C>A (p.Arg479=)
|
rs1273688341
|
|
|
NM_020433.5(JPH2):c.1437G>T (p.Arg479=)
|
rs2145838750
|
|
|
NM_020433.5(JPH2):c.144G>A (p.Val48=)
|
|
|
|
NM_020433.5(JPH2):c.1464C>G (p.Ala488=)
|
|
|
|
NM_020433.5(JPH2):c.1473C>G (p.Pro491=)
|
|
|
|
NM_020433.5(JPH2):c.147A>G (p.Ala49=)
|
|
|
|
NM_020433.5(JPH2):c.1512C>T (p.Asp504=)
|
rs2145838656
|
|
|
NM_020433.5(JPH2):c.1516C>T (p.Leu506=)
|
|
|
|
NM_020433.5(JPH2):c.1539C>T (p.Asn513=)
|
rs1377444830
|
|
|
NM_020433.5(JPH2):c.1581C>A (p.Ser527=)
|
|
|
|
NM_020433.5(JPH2):c.1587C>A (p.Gly529=)
|
rs780938930
|
|
|
NM_020433.5(JPH2):c.1677G>A (p.Glu559=)
|
|
|
|
NM_020433.5(JPH2):c.1689C>T (p.Tyr563=)
|
rs757000497
|
|
|
NM_020433.5(JPH2):c.1764G>A (p.Glu588=)
|
|
|
|
NM_020433.5(JPH2):c.1809G>A (p.Pro603=)
|
|
|
|
NM_020433.5(JPH2):c.1821C>A (p.Pro607=)
|
rs949299046
|
|
|
NM_020433.5(JPH2):c.1836C>A (p.Pro612=)
|
|
|
|
NM_020433.5(JPH2):c.1836C>G (p.Pro612=)
|
rs988341308
|
|
|
NM_020433.5(JPH2):c.1857C>G (p.Pro619=)
|
|
|
|
NM_020433.5(JPH2):c.1872C>G (p.Pro624=)
|
|
|
|
NM_020433.5(JPH2):c.1893C>T (p.Ala631=)
|
rs760865721
|
|
|
NM_020433.5(JPH2):c.1896G>A (p.Glu632=)
|
|
|
|
NM_020433.5(JPH2):c.1911C>T (p.Ala637=)
|
|
|
|
NM_020433.5(JPH2):c.1917G>A (p.Lys639=)
|
|
|
|
NM_020433.5(JPH2):c.1944G>A (p.Ala648=)
|
|
|
|
NM_020433.5(JPH2):c.1989G>A (p.Glu663=)
|
rs995204674
|
|
|
NM_020433.5(JPH2):c.1992G>A (p.Ala664=)
|
rs781384540
|
|
|
NM_020433.5(JPH2):c.2010+12G>A
|
|
|
|
NM_020433.5(JPH2):c.2010+8T>C
|
|
|
|
NM_020433.5(JPH2):c.2013C>G (p.Val671=)
|
|
|
|
NM_020433.5(JPH2):c.2070C>T (p.Leu690=)
|
|
|
|
NM_020433.5(JPH2):c.2085G>T (p.Leu695=)
|
|
|
|
NM_020433.5(JPH2):c.216G>T (p.Leu72=)
|
rs1204338991
|
|
|
NM_020433.5(JPH2):c.255G>A (p.Glu85=)
|
|
|
|
NM_020433.5(JPH2):c.282C>T (p.Tyr94=)
|
|
|
|
NM_020433.5(JPH2):c.300A>C (p.Ser100=)
|
|
|
|
NM_020433.5(JPH2):c.327C>T (p.Thr109=)
|
|
|
|
NM_020433.5(JPH2):c.379+12T>C
|
|
|
|
NM_020433.5(JPH2):c.379+13G>A
|
|
|
|
NM_020433.5(JPH2):c.379+9A>G
|
|
|
|
NM_020433.5(JPH2):c.380-16C>T
|
|
|
|
NM_020433.5(JPH2):c.380-19G>T
|
|
|
|
NM_020433.5(JPH2):c.384G>A (p.Thr128=)
|
|
|
|
NM_020433.5(JPH2):c.435G>A (p.Gln145=)
|
rs2145879710
|
|
|
NM_020433.5(JPH2):c.468C>G (p.Arg156=)
|
rs553395930
|
|
|
NM_020433.5(JPH2):c.492G>A (p.Ser164=)
|
|
|
|
NM_020433.5(JPH2):c.495C>T (p.Ser165=)
|
rs2072600997
|
|
|
NM_020433.5(JPH2):c.498G>A (p.Leu166=)
|
|
|
|
NM_020433.5(JPH2):c.519C>A (p.Gly173=)
|
|
|
|
NM_020433.5(JPH2):c.534C>T (p.Asp178=)
|
|
|
|
NM_020433.5(JPH2):c.546G>C (p.Ser182=)
|
rs1367650645
|
|
|
NM_020433.5(JPH2):c.549G>T (p.Pro183=)
|
rs1241788627
|
|
|
NM_020433.5(JPH2):c.558C>T (p.Asp186=)
|
|
|
|
NM_020433.5(JPH2):c.567G>A (p.Ala189=)
|
|
|
|
NM_020433.5(JPH2):c.624C>G (p.Ala208=)
|
rs398124358
|
|
|
NM_020433.5(JPH2):c.624C>T (p.Ala208=)
|
rs398124358
|
|
|
NM_020433.5(JPH2):c.627G>A (p.Glu209=)
|
|
|
|
NM_020433.5(JPH2):c.630G>A (p.Ala210=)
|
|
|
|
NM_020433.5(JPH2):c.630G>T (p.Ala210=)
|
|
|
|
NM_020433.5(JPH2):c.688C>T (p.Leu230=)
|
|
|
|
NM_020433.5(JPH2):c.711G>C (p.Thr237=)
|
|
|
|
NM_020433.5(JPH2):c.738C>G (p.Val246=)
|
|
|
|
NM_020433.5(JPH2):c.774C>T (p.Ser258=)
|
|
|
|
NM_020433.5(JPH2):c.789C>T (p.Thr263=)
|
rs1341184691
|
|
|
NM_020433.5(JPH2):c.846T>C (p.Asp282=)
|
rs976324787
|
|
|
NM_020433.5(JPH2):c.849C>T (p.Ile283=)
|
|
|
|
NM_020433.5(JPH2):c.852C>T (p.Asp284=)
|
|
|
|
NM_020433.5(JPH2):c.891C>T (p.Asn297=)
|
rs796364747
|
|
|
NM_020433.5(JPH2):c.915G>C (p.Val305=)
|
|
|
|
NM_020433.5(JPH2):c.930T>C (p.Ser310=)
|
|
|
|
NM_020433.5(JPH2):c.942C>T (p.Tyr314=)
|
rs1555858688
|
|
|
NM_020433.5(JPH2):c.963C>T (p.Asn321=)
|
|
|
|
NM_020433.5(JPH2):c.972C>T (p.His324=)
|
rs757316297
|
|
|
NM_020433.5(JPH2):c.999C>T (p.Asp333=)
|
|
|
|
NM_020433.5(JPH2):c.9G>A (p.Gly3=)
|
|
|
|
NM_021044.4(DHH):c.1182A>G (p.Leu394=)
|
|
|
|
NM_021044.4(DHH):c.303+10G>A
|
rs372590251
|
|
|
NM_021044.4(DHH):c.303+17C>T
|
|
|
|
NM_021044.4(DHH):c.304-15T>C
|
|
|
|
NM_021044.4(DHH):c.304-17C>T
|
|
|
|
NM_021044.4(DHH):c.324C>T (p.Asn108=)
|
|
|
|
NM_021044.4(DHH):c.681G>T (p.Ala227=)
|
|
|
|
NM_021044.4(DHH):c.804G>A (p.Thr268=)
|
|
|
|
NM_021167.5(GATAD1):c.102T>C (p.Thr34=)
|
|
|
|
NM_021167.5(GATAD1):c.141G>A (p.Gly47=)
|
|
|
|
NM_021167.5(GATAD1):c.153G>A (p.Gly51=)
|
rs2115836933
|
|
|
NM_021167.5(GATAD1):c.166GGC[5] (p.Gly59dup)
|
rs876657812
|
|
|
NM_021167.5(GATAD1):c.204C>T (p.Thr68=)
|
|
|
|
NM_021167.5(GATAD1):c.213C>T (p.Thr71=)
|
rs939453468
|
|
|
NM_021167.5(GATAD1):c.234C>G (p.Gly78=)
|
|
|
|
NM_021167.5(GATAD1):c.234C>T (p.Gly78=)
|
rs1789230292
|
|
|
NM_021167.5(GATAD1):c.237G>A (p.Gly79=)
|
|
|
|
NM_021167.5(GATAD1):c.249+12C>G
|
|
|
|
NM_021167.5(GATAD1):c.249+18C>A
|
|
|
|
NM_021167.5(GATAD1):c.249+18C>T
|
|
|
|
NM_021167.5(GATAD1):c.249+20C>T
|
|
|
|
NM_021167.5(GATAD1):c.249+8C>T
|
rs993477660
|
|
|
NM_021167.5(GATAD1):c.250-11_250-8del
|
|
|
|
NM_021167.5(GATAD1):c.250-19T>C
|
|
|
|
NM_021167.5(GATAD1):c.27C>T (p.Cys9=)
|
rs1585162237
|
|
|
NM_021167.5(GATAD1):c.285C>G (p.Leu95=)
|
rs371500622
|
|
|
NM_021167.5(GATAD1):c.306T>A (p.Ser102=)
|
|
|
|
NM_021167.5(GATAD1):c.375+7T>G
|
rs2115845002
|
|
|
NM_021167.5(GATAD1):c.376-5C>T
|
|
|
|
NM_021167.5(GATAD1):c.408A>T (p.Ile136=)
|
|
|
|
NM_021167.5(GATAD1):c.436-13_436-12del
|
|
|
|
NM_021167.5(GATAD1):c.436-17T>C
|
|
|
|
NM_021167.5(GATAD1):c.456T>C (p.Gly152=)
|
|
|
|
NM_021167.5(GATAD1):c.576C>A (p.Leu192=)
|
rs758612559
|
|
|
NM_021167.5(GATAD1):c.585C>G (p.Pro195=)
|
rs1554358970
|
|
|
NM_021167.5(GATAD1):c.619+11C>A
|
|
|
|
NM_021167.5(GATAD1):c.619+19A>G
|
|
|
|
NM_021167.5(GATAD1):c.620-16C>G
|
|
|
|
NM_021167.5(GATAD1):c.620-17C>T
|
|
|
|
NM_021167.5(GATAD1):c.798C>A (p.Ala266=)
|
rs2115886142
|
|
|
NM_021167.5(GATAD1):c.7C>T (p.Leu3=)
|
|
|
|
NM_021167.5(GATAD1):c.84C>T (p.Ile28=)
|
|
|
|
NM_021167.5(GATAD1):c.9G>A (p.Leu3=)
|
|
|
|
NM_022114.4(PRDM16):c.1011C>T (p.Phe337=)
|
|
|
|
NM_022114.4(PRDM16):c.1023C>T (p.Asn341=)
|
|
|
|
NM_022114.4(PRDM16):c.1032+10G>A
|
|
|
|
NM_022114.4(PRDM16):c.1032+12G>C
|
|
|
|
NM_022114.4(PRDM16):c.1032+13G>A
|
|
|
|
NM_022114.4(PRDM16):c.1032+20C>T
|
|
|
|
NM_022114.4(PRDM16):c.1032+21_1032+66del
|
|
|
|
NM_022114.4(PRDM16):c.1033-11C>T
|
|
|
|
NM_022114.4(PRDM16):c.1033-14A>T
|
|
|
|
NM_022114.4(PRDM16):c.1033-17G>A
|
|
|
|
NM_022114.4(PRDM16):c.1033-18C>T
|
|
|
|
NM_022114.4(PRDM16):c.1033-5C>G
|
|
|
|
NM_022114.4(PRDM16):c.1033-8C>T
|
rs1049463147
|
|
|
NM_022114.4(PRDM16):c.1065C>T (p.His355=)
|
|
|
|
NM_022114.4(PRDM16):c.1074G>A (p.Ser358=)
|
rs767835445
|
|
|
NM_022114.4(PRDM16):c.1074G>T (p.Ser358=)
|
rs767835445
|
|
|
NM_022114.4(PRDM16):c.1086C>T (p.Gly362=)
|
|
|
|
NM_022114.4(PRDM16):c.1134C>T (p.Ser378=)
|
rs200169663
|
|
|
NM_022114.4(PRDM16):c.1200C>T (p.His400=)
|
rs1569727120
|
|
|
NM_022114.4(PRDM16):c.1233G>C (p.Arg411=)
|
rs2100662097
|
|
|
NM_022114.4(PRDM16):c.1239G>A (p.Lys413=)
|
|
|
|
NM_022114.4(PRDM16):c.1242G>C (p.Arg414=)
|
rs2100662106
|
|
|
NM_022114.4(PRDM16):c.1248C>T (p.His416=)
|
|
|
|
NM_022114.4(PRDM16):c.1272G>A (p.Lys424=)
|
|
|
|
NM_022114.4(PRDM16):c.1302T>C (p.Thr434=)
|
|
|
|
NM_022114.4(PRDM16):c.1326G>A (p.Arg442=)
|
rs766131529
|
|
|
NM_022114.4(PRDM16):c.1335C>T (p.Cys445=)
|
|
|
|
NM_022114.4(PRDM16):c.1338G>A (p.Glu446=)
|
|
|
|
NM_022114.4(PRDM16):c.1356G>A (p.Thr452=)
|
rs567761188
|
|
|
NM_022114.4(PRDM16):c.1362C>T (p.Gly454=)
|
|
|
|
NM_022114.4(PRDM16):c.1386C>G (p.Pro462=)
|
|
|
|
NM_022114.4(PRDM16):c.1392C>T (p.Thr464=)
|
rs2100662376
|
|
|
NM_022114.4(PRDM16):c.1422C>G (p.Pro474=)
|
|
|
|
NM_022114.4(PRDM16):c.1458C>T (p.Asn486=)
|
|
|
|
NM_022114.4(PRDM16):c.1476G>A (p.Arg492=)
|
|
|
|
NM_022114.4(PRDM16):c.1482C>T (p.His494=)
|
|
|
|
NM_022114.4(PRDM16):c.1491C>T (p.Ser497=)
|
|
|
|
NM_022114.4(PRDM16):c.1506G>C (p.Thr502=)
|
rs375543158
|
|
|
NM_022114.4(PRDM16):c.1530C>G (p.Leu510=)
|
rs1643690100
|
|
|
NM_022114.4(PRDM16):c.1566G>A (p.Leu522=)
|
|
|
|
NM_022114.4(PRDM16):c.1611C>T (p.Ser537=)
|
rs2100662881
|
|
|
NM_022114.4(PRDM16):c.1625C>A (p.Thr542Asn)
|
rs573253046
|
|
|
NM_022114.4(PRDM16):c.1638G>A (p.Lys546=)
|
rs1569729040
|
|
|
NM_022114.4(PRDM16):c.1677C>A (p.Val559=)
|
|
|
|
NM_022114.4(PRDM16):c.1683C>T (p.Ala561=)
|
rs771966209
|
|
|
NM_022114.4(PRDM16):c.1761T>C (p.Cys587=)
|
|
|
|
NM_022114.4(PRDM16):c.1797G>C (p.Ser599=)
|
|
|
|
NM_022114.4(PRDM16):c.1803C>T (p.Gly601=)
|
rs1643696853
|
|
|
NM_022114.4(PRDM16):c.1833G>A (p.Thr611=)
|
|
|
|
NM_022114.4(PRDM16):c.1836G>A (p.Gly612=)
|
rs2100663379
|
|
|
NM_022114.4(PRDM16):c.1857G>A (p.Thr619=)
|
|
|
|
NM_022114.4(PRDM16):c.1866C>T (p.Gly622=)
|
|
|
|
NM_022114.4(PRDM16):c.1881C>T (p.Ser627=)
|
|
|
|
NM_022114.4(PRDM16):c.192G>A (p.Glu64=)
|
|
|
|
NM_022114.4(PRDM16):c.1953C>T (p.Gly651=)
|
rs780589589
|
|
|
NM_022114.4(PRDM16):c.1968G>A (p.Pro656=)
|
|
|
|
NM_022114.4(PRDM16):c.1971G>T (p.Gly657=)
|
|
|
|
NM_022114.4(PRDM16):c.1983C>T (p.Ser661=)
|
rs764211215
|
|
|
NM_022114.4(PRDM16):c.198G>A (p.Ser66=)
|
|
|
|
NM_022114.4(PRDM16):c.1992G>A (p.Glu664=)
|
rs1222175268
|
|
|
NM_022114.4(PRDM16):c.2028G>A (p.Pro676=)
|
|
|
|
NM_022114.4(PRDM16):c.2035G>A (p.Asp679Asn)
|
rs772689095
|
|
|
NM_022114.4(PRDM16):c.2061C>T (p.Gly687=)
|
|
|
|
NM_022114.4(PRDM16):c.2064C>T (p.Ala688=)
|
|
|
|
NM_022114.4(PRDM16):c.2079C>T (p.Ile693=)
|
rs1569731370
|
|
|
NM_022114.4(PRDM16):c.2100C>G (p.Ala700=)
|
rs565237990
|
|
|
NM_022114.4(PRDM16):c.2148G>C (p.Leu716=)
|
rs886908974
|
|
|
NM_022114.4(PRDM16):c.2175C>T (p.Phe725=)
|
rs760788835
|
|
|
NM_022114.4(PRDM16):c.2196C>T (p.Asn732=)
|
rs765462018
|
|
|
NM_022114.4(PRDM16):c.219C>T (p.Tyr73=)
|
rs2100798029
|
|
|
NM_022114.4(PRDM16):c.2235C>T (p.Leu745=)
|
|
|
|
NM_022114.4(PRDM16):c.2247G>A (p.Leu749=)
|
rs1553176942
|
|
|
NM_022114.4(PRDM16):c.2248C>T (p.Leu750=)
|
|
|
|
NM_022114.4(PRDM16):c.2253C>G (p.Val751=)
|
|
|
|
NM_022114.4(PRDM16):c.2259C>G (p.Ala753=)
|
rs548246861
|
|
|
NM_022114.4(PRDM16):c.225T>G (p.Pro75=)
|
|
|
|
NM_022114.4(PRDM16):c.2280C>T (p.Asp760=)
|
rs568097564
|
|
|
NM_022114.4(PRDM16):c.2298C>T (p.Gly766=)
|
|
|
|
NM_022114.4(PRDM16):c.2331C>A (p.Thr777=)
|
rs1341380134
|
|
|
NM_022114.4(PRDM16):c.2361C>T (p.Pro787=)
|
|
|
|
NM_022114.4(PRDM16):c.237G>A (p.Pro79=)
|
rs143467979
|
|
|
NM_022114.4(PRDM16):c.237G>T (p.Pro79=)
|
rs143467979
|
|
|
NM_022114.4(PRDM16):c.2391C>A (p.Ser797=)
|
rs370931714
|
|
|
NM_022114.4(PRDM16):c.2413C>T (p.Leu805=)
|
rs2100664712
|
|
|
NM_022114.4(PRDM16):c.2415G>C (p.Leu805=)
|
|
|
|
NM_022114.4(PRDM16):c.246A>G (p.Ala82=)
|
rs765564758
|
|
|
NM_022114.4(PRDM16):c.2472G>A (p.Lys824=)
|
rs912467063
|
|
|
NM_022114.4(PRDM16):c.2535G>A (p.Ala845=)
|
rs1004240763
|
|
|
NM_022114.4(PRDM16):c.2535G>C (p.Ala845=)
|
rs1004240763
|
|
|
NM_022114.4(PRDM16):c.2604-16C>T
|
rs368705439
|
|
|
NM_022114.4(PRDM16):c.2604-20C>A
|
rs1219390021
|
|
|
NM_022114.4(PRDM16):c.2664G>C (p.Arg888=)
|
|
|
|
NM_022114.4(PRDM16):c.2667G>T (p.Pro889=)
|
rs774537766
|
|
|
NM_022114.4(PRDM16):c.2670C>T (p.Ser890=)
|
|
|
|
NM_022114.4(PRDM16):c.2692-19C>T
|
|
|
|
NM_022114.4(PRDM16):c.2692-9T>C
|
|
|
|
NM_022114.4(PRDM16):c.270C>A (p.Ser90=)
|
rs1569799111
|
|
|
NM_022114.4(PRDM16):c.2724G>A (p.Leu908=)
|
rs757917553
|
|
|
NM_022114.4(PRDM16):c.2764C>T (p.Leu922=)
|
rs576629075
|
|
|
NM_022114.4(PRDM16):c.2778C>G (p.Pro926=)
|
|
|
|
NM_022114.4(PRDM16):c.2815C>A (p.Leu939Ile)
|
rs150022595
|
|
|
NM_022114.4(PRDM16):c.2817C>T (p.Leu939=)
|
rs1638316744
|
|
|
NM_022114.4(PRDM16):c.2826C>T (p.Pro942=)
|
|
|
|
NM_022114.4(PRDM16):c.2861+11C>G
|
|
|
|
NM_022114.4(PRDM16):c.2862-10T>A
|
rs1569751849
|
|
|
NM_022114.4(PRDM16):c.2862-13C>T
|
|
|
|
NM_022114.4(PRDM16):c.2883C>T (p.Pro961=)
|
|
|
|
NM_022114.4(PRDM16):c.288G>A (p.Leu96=)
|
rs752047886
|
|
|
NM_022114.4(PRDM16):c.28C>T (p.Leu10=)
|
rs770141414
|
|
|
NM_022114.4(PRDM16):c.2922T>G (p.Thr974=)
|
|
|
|
NM_022114.4(PRDM16):c.2931G>A (p.Gln977=)
|
|
|
|
NM_022114.4(PRDM16):c.2939+11C>T
|
|
|
|
NM_022114.4(PRDM16):c.2939+12G>A
|
|
|
|
NM_022114.4(PRDM16):c.2939+14G>C
|
|
|
|
NM_022114.4(PRDM16):c.2940-12T>C
|
|
|
|
NM_022114.4(PRDM16):c.2940-13G>C
|
rs2100692247
|
|
|
NM_022114.4(PRDM16):c.2940-16C>A
|
rs374845861
|
|
|
NM_022114.4(PRDM16):c.2970C>T (p.Ile990=)
|
rs1638581994
|
|
|
NM_022114.4(PRDM16):c.2982C>T (p.Leu994=)
|
|
|
|
NM_022114.4(PRDM16):c.3027G>A (p.Lys1009=)
|
|
|
|
NM_022114.4(PRDM16):c.3063C>T (p.Thr1021=)
|
rs1638583619
|
|
|
NM_022114.4(PRDM16):c.3078C>T (p.His1026=)
|
|
|
|
NM_022114.4(PRDM16):c.3096C>T (p.His1032=)
|
|
|
|
NM_022114.4(PRDM16):c.3105A>G (p.Ala1035=)
|
rs2100692467
|
|
|
NM_022114.4(PRDM16):c.3109+15G>T
|
|
|
|
NM_022114.4(PRDM16):c.3110-12G>A
|
|
|
|
NM_022114.4(PRDM16):c.3110-19T>A
|
|
|
|
NM_022114.4(PRDM16):c.3110-7T>C
|
rs1553179293
|
|
|
NM_022114.4(PRDM16):c.3126G>A (p.Gly1042=)
|
|
|
|
NM_022114.4(PRDM16):c.3138C>T (p.Asn1046=)
|
rs2100693217
|
|
|
NM_022114.4(PRDM16):c.3141C>T (p.His1047=)
|
rs754311746
|
|
|
NM_022114.4(PRDM16):c.3150C>G (p.Thr1050=)
|
|
|
|
NM_022114.4(PRDM16):c.3222G>A (p.Ser1074=)
|
rs541306513
|
|
|
NM_022114.4(PRDM16):c.3240T>C (p.Ile1080=)
|
|
|
|
NM_022114.4(PRDM16):c.3284+15G>A
|
|
|
|
NM_022114.4(PRDM16):c.3284+17G>C
|
rs376268478
|
|
|
NM_022114.4(PRDM16):c.3285-15_3285-13del
|
|
|
|
NM_022114.4(PRDM16):c.3285-20C>A
|
|
|
|
NM_022114.4(PRDM16):c.3363G>A (p.Glu1121=)
|
rs749724757
|
|
|
NM_022114.4(PRDM16):c.3366CGA[3] (p.Asp1125dup)
|
rs758774731
|
|
|
NM_022114.4(PRDM16):c.3393G>A (p.Glu1131=)
|
rs2100702079
|
|
|
NM_022114.4(PRDM16):c.339C>T (p.Cys113=)
|
|
|
|
NM_022114.4(PRDM16):c.3414G>A (p.Ser1138=)
|
rs762994553
|
|
|
NM_022114.4(PRDM16):c.3426C>T (p.Thr1142=)
|
|
|
|
NM_022114.4(PRDM16):c.3435C>T (p.Pro1145=)
|
|
|
|
NM_022114.4(PRDM16):c.3441C>T (p.Pro1147=)
|
|
|
|
NM_022114.4(PRDM16):c.3471G>A (p.Glu1157=)
|
rs1638752992
|
|
|
NM_022114.4(PRDM16):c.3486C>T (p.Ala1162=)
|
|
|
|
NM_022114.4(PRDM16):c.3501G>A (p.Val1167=)
|
|
|
|
NM_022114.4(PRDM16):c.3521+13G>A
|
|
|
|
NM_022114.4(PRDM16):c.3522-20C>G
|
|
|
|
NM_022114.4(PRDM16):c.3522-5T>C
|
|
|
|
NM_022114.4(PRDM16):c.3534C>T (p.Asp1178=)
|
|
|
|
NM_022114.4(PRDM16):c.3696+16A>T
|
|
|
|
NM_022114.4(PRDM16):c.3696+7A>G
|
rs746946590
|
|
|
NM_022114.4(PRDM16):c.3697-17C>T
|
rs752429526
|
|
|
NM_022114.4(PRDM16):c.3697-5G>C
|
|
|
|
NM_022114.4(PRDM16):c.3699A>G (p.Ala1233=)
|
|
|
|
NM_022114.4(PRDM16):c.37+23_37+55del
|
|
|
|
NM_022114.4(PRDM16):c.3714G>A (p.Leu1238=)
|
rs1427967709
|
|
|
NM_022114.4(PRDM16):c.3789C>G (p.Ala1263=)
|
|
|
|
NM_022114.4(PRDM16):c.38-19G>A
|
|
|
|
NM_022114.4(PRDM16):c.38-20C>A
|
rs190568539
|
|
|
NM_022114.4(PRDM16):c.38-20C>T
|
rs190568539
|
|
|
NM_022114.4(PRDM16):c.387+10C>T
|
rs190880470
|
|
|
NM_022114.4(PRDM16):c.387+13G>A
|
|
|
|
NM_022114.4(PRDM16):c.387+7G>A
|
|
|
|
NM_022114.4(PRDM16):c.388-18C>T
|
|
|
|
NM_022114.4(PRDM16):c.388-20C>T
|
rs1287323909
|
|
|
NM_022114.4(PRDM16):c.388-8T>C
|
rs2100913261
|
|
|
NM_022114.4(PRDM16):c.39T>C (p.Ser13=)
|
rs1373869540
|
|
|
NM_022114.4(PRDM16):c.414G>A (p.Ser138=)
|
|
|
|
NM_022114.4(PRDM16):c.438+12C>T
|
|
|
|
NM_022114.4(PRDM16):c.438+13G>A
|
rs749399829
|
|
|
NM_022114.4(PRDM16):c.438+16C>T
|
|
|
|
NM_022114.4(PRDM16):c.438+20G>A
|
|
|
|
NM_022114.4(PRDM16):c.438+7G>T
|
rs1198596075
|
|
|
NM_022114.4(PRDM16):c.439-4G>T
|
rs1060504136
|
|
|
NM_022114.4(PRDM16):c.48C>T (p.Asp16=)
|
rs755458264
|
|
|
NM_022114.4(PRDM16):c.525G>A (p.Ala175=)
|
rs761677255
|
|
|
NM_022114.4(PRDM16):c.525G>C (p.Ala175=)
|
rs761677255
|
|
|
NM_022114.4(PRDM16):c.573+10G>A
|
|
|
|
NM_022114.4(PRDM16):c.573+11G>A
|
|
|
|
NM_022114.4(PRDM16):c.573+12C>G
|
|
|
|
NM_022114.4(PRDM16):c.574-20C>G
|
|
|
|
NM_022114.4(PRDM16):c.574-20_574-17del
|
rs565661633
|
|
|
NM_022114.4(PRDM16):c.639C>T (p.Gly213=)
|
|
|
|
NM_022114.4(PRDM16):c.648C>T (p.Pro216=)
|
|
|
|
NM_022114.4(PRDM16):c.663G>A (p.Pro221=)
|
rs780898226
|
|
|
NM_022114.4(PRDM16):c.663G>T (p.Pro221=)
|
rs780898226
|
|
|
NM_022114.4(PRDM16):c.676+16C>A
|
|
|
|
NM_022114.4(PRDM16):c.677-17C>T
|
|
|
|
NM_022114.4(PRDM16):c.677-9C>G
|
|
|
|
NM_022114.4(PRDM16):c.677-9C>T
|
rs755951322
|
|
|
NM_022114.4(PRDM16):c.699C>T (p.Asp233=)
|
|
|
|
NM_022114.4(PRDM16):c.708C>T (p.Asp236=)
|
|
|
|
NM_022114.4(PRDM16):c.72C>T (p.Pro24=)
|
|
|
|
NM_022114.4(PRDM16):c.753C>T (p.Tyr251=)
|
|
|
|
NM_022114.4(PRDM16):c.771G>A (p.Gly257=)
|
|
|
|
NM_022114.4(PRDM16):c.810C>G (p.Pro270=)
|
rs753567065
|
|
|
NM_022114.4(PRDM16):c.816C>T (p.Gly272=)
|
rs2100642536
|
|
|
NM_022114.4(PRDM16):c.876C>T (p.Asn292=)
|
rs1553174363
|
|
|
NM_022114.4(PRDM16):c.884+15T>C
|
rs2100642752
|
|
|
NM_022114.4(PRDM16):c.884+16_884+17del
|
|
|
|
NM_022114.4(PRDM16):c.884+33_884+94del
|
rs1557654935
|
|
|
NM_022114.4(PRDM16):c.884+33_884+94dup
|
|
|
|
NM_022114.4(PRDM16):c.885-14C>T
|
|
|
|
NM_022114.4(PRDM16):c.885-15T>C
|
rs2100646015
|
|
|
NM_022114.4(PRDM16):c.885-8C>T
|
|
|
|
NM_022114.4(PRDM16):c.912G>C (p.Thr304=)
|
|
|
|
NM_022114.4(PRDM16):c.921C>T (p.Arg307=)
|
rs767412035
|
|
|
NM_022114.4(PRDM16):c.930A>G (p.Lys310=)
|
|
|
|
NM_022114.4(PRDM16):c.99C>T (p.Ser33=)
|
|
|
|
NM_022455.5(NSD1):c.1797C>T (p.Ile599=)
|
rs1554189107
|
|
|
NM_022455.5(NSD1):c.2148T>G (p.Thr716=)
|
rs780294858
|
|
|
NM_022455.5(NSD1):c.7914C>T (p.Pro2638=)
|
rs781650846
|
|
|
NM_024334.3(TMEM43):c.1000+13G>C
|
|
|
|
NM_024334.3(TMEM43):c.1001-4A>G
|
rs960212953
|
|
|
NM_024334.3(TMEM43):c.1001-6C>T
|
rs2124997132
|
|
|
NM_024334.3(TMEM43):c.102T>A (p.Gly34=)
|
|
|
|
NM_024334.3(TMEM43):c.1041C>T (p.Gly347=)
|
rs1574942089
|
|
|
NM_024334.3(TMEM43):c.1050C>G (p.Ala350=)
|
|
|
|
NM_024334.3(TMEM43):c.1050C>T (p.Ala350=)
|
rs1574942095
|
|
|
NM_024334.3(TMEM43):c.105G>A (p.Gly35=)
|
|
|
|
NM_024334.3(TMEM43):c.1061G>C (p.Cys354Ser)
|
rs187262922
|
|
|
NM_024334.3(TMEM43):c.1068C>G (p.Ala356=)
|
|
|
|
NM_024334.3(TMEM43):c.1068C>T (p.Ala356=)
|
|
|
|
NM_024334.3(TMEM43):c.1075C>T (p.Leu359=)
|
rs767824014
|
|
|
NM_024334.3(TMEM43):c.1080C>T (p.Thr360=)
|
rs370839609
|
|
|
NM_024334.3(TMEM43):c.1086G>A (p.Leu362=)
|
|
|
|
NM_024334.3(TMEM43):c.1119C>A (p.Pro373=)
|
|
|
|
NM_024334.3(TMEM43):c.1149C>A (p.Ala383=)
|
|
|
|
NM_024334.3(TMEM43):c.1164T>C (p.Leu388=)
|
rs1035334505
|
|
|
NM_024334.3(TMEM43):c.1167T>C (p.Val389=)
|
rs1695251041
|
|
|
NM_024334.3(TMEM43):c.1188C>T (p.Ala396=)
|
rs2124997491
|
|
|
NM_024334.3(TMEM43):c.12+16C>T
|
|
|
|
NM_024334.3(TMEM43):c.1202del (p.Glu400_Ter401insTer)
|
|
|
|
NM_024334.3(TMEM43):c.13-4T>C
|
rs766665492
|
|
|
NM_024334.3(TMEM43):c.135C>G (p.Leu45=)
|
|
|
|
NM_024334.3(TMEM43):c.162+17C>T
|
rs1229821290
|
|
|
NM_024334.3(TMEM43):c.162+20C>T
|
|
|
|
NM_024334.3(TMEM43):c.163-20C>T
|
|
|
|
NM_024334.3(TMEM43):c.165C>T (p.Gly55=)
|
|
|
|
NM_024334.3(TMEM43):c.171A>G (p.Ala57=)
|
|
|
|
NM_024334.3(TMEM43):c.177G>A (p.Lys59=)
|
rs1553602938
|
|
|
NM_024334.3(TMEM43):c.186C>T (p.Thr62=)
|
|
|
|
NM_024334.3(TMEM43):c.201G>A (p.Gly67=)
|
|
|
|
NM_024334.3(TMEM43):c.204C>G (p.Leu68=)
|
|
|
|
NM_024334.3(TMEM43):c.204C>T (p.Leu68=)
|
rs752403292
|
|
|
NM_024334.3(TMEM43):c.207G>C (p.Ser69=)
|
rs886058030
|
|
|
NM_024334.3(TMEM43):c.213G>T (p.Val71=)
|
rs756764750
|
|
|
NM_024334.3(TMEM43):c.21T>C (p.Ser7=)
|
|
|
|
NM_024334.3(TMEM43):c.231C>T (p.Ile77=)
|
rs899266809
|
|
|
NM_024334.3(TMEM43):c.265G>A (p.Val89Met)
|
rs147319971
|
|
|
NM_024334.3(TMEM43):c.267G>A (p.Val89=)
|
rs763697982
|
|
|
NM_024334.3(TMEM43):c.273C>T (p.Ile91=)
|
rs764733979
|
|
|
NM_024334.3(TMEM43):c.286C>A (p.Arg96=)
|
rs754797146
|
|
|
NM_024334.3(TMEM43):c.288G>A (p.Arg96=)
|
rs2124987180
|
|
|
NM_024334.3(TMEM43):c.291A>T (p.Thr97=)
|
rs2124987190
|
|
|
NM_024334.3(TMEM43):c.297+14G>T
|
rs1695088030
|
|
|
NM_024334.3(TMEM43):c.297+16G>T
|
|
|
|
NM_024334.3(TMEM43):c.297+17A>C
|
|
|
|
NM_024334.3(TMEM43):c.298-15T>C
|
|
|
|
NM_024334.3(TMEM43):c.301T>C (p.Leu101=)
|
|
|
|
NM_024334.3(TMEM43):c.30C>T (p.Thr10=)
|
rs757554576
|
|
|
NM_024334.3(TMEM43):c.346C>A (p.Arg116=)
|
rs752588115
|
|
|
NM_024334.3(TMEM43):c.351G>A (p.Arg117=)
|
rs2124987872
|
|
|
NM_024334.3(TMEM43):c.366C>T (p.Tyr122=)
|
rs2124987907
|
|
|
NM_024334.3(TMEM43):c.390C>A (p.Ser130=)
|
|
|
|
NM_024334.3(TMEM43):c.392+16_392+32del
|
rs745331190
|
|
|
NM_024334.3(TMEM43):c.392+6C>T
|
rs1574937711
|
|
|
NM_024334.3(TMEM43):c.393-16T>A
|
|
|
|
NM_024334.3(TMEM43):c.393-18G>A
|
|
|
|
NM_024334.3(TMEM43):c.393-19T>C
|
|
|
|
NM_024334.3(TMEM43):c.393-4G>T
|
rs1247757810
|
|
|
NM_024334.3(TMEM43):c.393-6C>T
|
rs2124988705
|
|
|
NM_024334.3(TMEM43):c.396G>A (p.Glu132=)
|
|
|
|
NM_024334.3(TMEM43):c.39A>G (p.Glu13=)
|
rs1444701312
|
|
|
NM_024334.3(TMEM43):c.414G>A (p.Gln138=)
|
|
|
|
NM_024334.3(TMEM43):c.426G>A (p.Glu142=)
|
rs2124988827
|
|
|
NM_024334.3(TMEM43):c.442+10G>A
|
rs2124988861
|
|
|
NM_024334.3(TMEM43):c.442+13C>T
|
rs781640632
|
|
|
NM_024334.3(TMEM43):c.442+14C>T
|
|
|
|
NM_024334.3(TMEM43):c.442+19dup
|
rs768508021
|
|
|
NM_024334.3(TMEM43):c.443-18A>T
|
|
|
|
NM_024334.3(TMEM43):c.443-4G>A
|
|
|
|
NM_024334.3(TMEM43):c.443-5A>G
|
|
|
|
NM_024334.3(TMEM43):c.45C>G (p.Val15=)
|
rs150334659
|
|
|
NM_024334.3(TMEM43):c.48A>G (p.Lys16=)
|
|
|
|
NM_024334.3(TMEM43):c.492G>A (p.Glu164=)
|
rs949064136
|
|
|
NM_024334.3(TMEM43):c.495T>C (p.Ile165=)
|
|
|
|
NM_024334.3(TMEM43):c.512+15C>T
|
|
|
|
NM_024334.3(TMEM43):c.512+19G>A
|
rs114026215
|
|
|
NM_024334.3(TMEM43):c.512+7G>A
|
rs2124989229
|
|
|
NM_024334.3(TMEM43):c.512+9C>G
|
rs2124989236
|
|
|
NM_024334.3(TMEM43):c.513-11C>T
|
rs1695130290
|
|
|
NM_024334.3(TMEM43):c.513-14C>T
|
|
|
|
NM_024334.3(TMEM43):c.513-16T>G
|
|
|
|
NM_024334.3(TMEM43):c.513-17C>A
|
rs1230270948
|
|
|
NM_024334.3(TMEM43):c.513-17C>T
|
|
|
|
NM_024334.3(TMEM43):c.513-18G>A
|
|
|
|
NM_024334.3(TMEM43):c.513-20C>T
|
rs1054904116
|
|
|
NM_024334.3(TMEM43):c.513-7C>T
|
|
|
|
NM_024334.3(TMEM43):c.513-8T>C
|
rs2124989875
|
|
|
NM_024334.3(TMEM43):c.513-9C>G
|
rs369551282
|
|
|
NM_024334.3(TMEM43):c.51T>G (p.Val17=)
|
rs397517383
|
|
|
NM_024334.3(TMEM43):c.536_537inv (p.Met179Thr)
|
|
|
|
NM_024334.3(TMEM43):c.549C>G (p.Pro183=)
|
|
|
|
NM_024334.3(TMEM43):c.552T>C (p.Phe184=)
|
|
|
|
NM_024334.3(TMEM43):c.573C>T (p.Phe191=)
|
rs1276996116
|
|
|
NM_024334.3(TMEM43):c.576C>T (p.Leu192=)
|
rs1574938735
|
|
|
NM_024334.3(TMEM43):c.57C>G (p.Thr19=)
|
|
|
|
NM_024334.3(TMEM43):c.583+10A>T
|
rs760105643
|
|
|
NM_024334.3(TMEM43):c.583+13C>T
|
|
|
|
NM_024334.3(TMEM43):c.583+16C>T
|
|
|
|
NM_024334.3(TMEM43):c.583+7C>T
|
|
|
|
NM_024334.3(TMEM43):c.583+9C>G
|
|
|
|
NM_024334.3(TMEM43):c.584-15C>T
|
rs1298507684
|
|
|
NM_024334.3(TMEM43):c.584-18C>T
|
|
|
|
NM_024334.3(TMEM43):c.584-5C>T
|
rs932265324
|
|
|
NM_024334.3(TMEM43):c.584-7C>G
|
rs773841507
|
|
|
NM_024334.3(TMEM43):c.584-7C>T
|
|
|
|
NM_024334.3(TMEM43):c.588C>T (p.Leu196=)
|
|
|
|
NM_024334.3(TMEM43):c.60C>T (p.Ser20=)
|
|
|
|
NM_024334.3(TMEM43):c.615C>G (p.Ser205=)
|
rs761287242
|
|
|
NM_024334.3(TMEM43):c.622C>T (p.Leu208=)
|
rs1246435835
|
|
|
NM_024334.3(TMEM43):c.645T>C (p.His215=)
|
rs370782259
|
|
|
NM_024334.3(TMEM43):c.69A>C (p.Pro23=)
|
rs767619018
|
|
|
NM_024334.3(TMEM43):c.705+12G>A
|
rs2124991000
|
|
|
NM_024334.3(TMEM43):c.705+14C>G
|
rs983517574
|
|
|
NM_024334.3(TMEM43):c.705+7G>C
|
rs201916031
|
|
|
NM_024334.3(TMEM43):c.706-13C>T
|
|
|
|
NM_024334.3(TMEM43):c.706-15C>G
|
|
|
|
NM_024334.3(TMEM43):c.706-20T>C
|
rs1001419903
|
|
|
NM_024334.3(TMEM43):c.706-4C>G
|
rs760936714
|
|
|
NM_024334.3(TMEM43):c.706-6C>T
|
rs1404287765
|
|
|
NM_024334.3(TMEM43):c.714C>T (p.Asp238=)
|
|
|
|
NM_024334.3(TMEM43):c.723C>T (p.Val241=)
|
|
|
|
NM_024334.3(TMEM43):c.744G>A (p.Leu248=)
|
rs533455369
|
|
|
NM_024334.3(TMEM43):c.753T>C (p.Asp251=)
|
rs2124991349
|
|
|
NM_024334.3(TMEM43):c.756C>T (p.Asp252=)
|
|
|
|
NM_024334.3(TMEM43):c.759T>C (p.Pro253=)
|
|
|
|
NM_024334.3(TMEM43):c.780+13C>T
|
|
|
|
NM_024334.3(TMEM43):c.780+19G>A
|
rs2124991426
|
|
|
NM_024334.3(TMEM43):c.780+7T>G
|
|
|
|
NM_024334.3(TMEM43):c.781-10C>G
|
rs1695161102
|
|
|
NM_024334.3(TMEM43):c.781-16C>T
|
|
|
|
NM_024334.3(TMEM43):c.781-17C>A
|
|
|
|
NM_024334.3(TMEM43):c.781-17C>G
|
|
|
|
NM_024334.3(TMEM43):c.781-19C>T
|
|
|
|
NM_024334.3(TMEM43):c.781-4C>G
|
rs1445555724
|
|
|
NM_024334.3(TMEM43):c.792T>C (p.Ile264=)
|
rs1408153534
|
|
|
NM_024334.3(TMEM43):c.795C>T (p.Ala265=)
|
|
|
|
NM_024334.3(TMEM43):c.804G>A (p.Arg268=)
|
|
|
|
NM_024334.3(TMEM43):c.810C>T (p.Asp270=)
|
rs763026916
|
|
|
NM_024334.3(TMEM43):c.813G>A (p.Gln271=)
|
|
|
|
NM_024334.3(TMEM43):c.814C>T (p.Leu272=)
|
rs759993739
|
|
|
NM_024334.3(TMEM43):c.837T>G (p.Ser279=)
|
rs751086845
|
|
|
NM_024334.3(TMEM43):c.846C>A (p.Thr282=)
|
rs1384290838
|
|
|
NM_024334.3(TMEM43):c.846C>T (p.Thr282=)
|
rs1384290838
|
|
|
NM_024334.3(TMEM43):c.850C>T (p.Leu284=)
|
|
|
|
NM_024334.3(TMEM43):c.855C>T (p.Leu285=)
|
|
|
|
NM_024334.3(TMEM43):c.867G>A (p.Gly289=)
|
|
|
|
NM_024334.3(TMEM43):c.882+12G>A
|
|
|
|
NM_024334.3(TMEM43):c.882+17A>C
|
|
|
|
NM_024334.3(TMEM43):c.882+18C>T
|
rs1695163911
|
|
|
NM_024334.3(TMEM43):c.882+20C>T
|
rs1695163974
|
|
|
NM_024334.3(TMEM43):c.883-13C>A
|
|
|
|
NM_024334.3(TMEM43):c.883-15C>G
|
|
|
|
NM_024334.3(TMEM43):c.883-16C>T
|
rs2124995118
|
|
|
NM_024334.3(TMEM43):c.883-6C>T
|
|
|
|
NM_024334.3(TMEM43):c.894T>C (p.His298=)
|
|
|
|
NM_024334.3(TMEM43):c.924C>G (p.Thr308=)
|
|
|
|
NM_024334.3(TMEM43):c.924C>T (p.Thr308=)
|
|
|
|
NM_024334.3(TMEM43):c.990C>G (p.Leu330=)
|
|
|
|
NM_024334.3(TMEM43):c.990C>T (p.Leu330=)
|
rs780129544
|
|
|
NM_024334.3(TMEM43):c.99G>C (p.Ser33=)
|
rs147710692
|
|
|
NM_024422.6(DSC2):c.1005A>G (p.Leu335=)
|
|
|
|
NM_024422.6(DSC2):c.1020T>G (p.Thr340=)
|
|
|
|
NM_024422.6(DSC2):c.1029T>C (p.Ile343=)
|
rs1555639124
|
|
|
NM_024422.6(DSC2):c.1038T>C (p.Asp346=)
|
rs2144821248
|
|
|
NM_024422.6(DSC2):c.1041T>C (p.Asp347=)
|
rs758394251
|
|
|
NM_024422.6(DSC2):c.1077+9A>G
|
rs369381870
|
|
|
NM_024422.6(DSC2):c.1078-7A>G
|
rs781417647
|
|
|
NM_024422.6(DSC2):c.1134T>C (p.Val378=)
|
rs921023156
|
|
|
NM_024422.6(DSC2):c.1140T>C (p.Asp380=)
|
rs1252165791
|
|
|
NM_024422.6(DSC2):c.114T>C (p.His38=)
|
|
|
|
NM_024422.6(DSC2):c.1260T>C (p.Val420=)
|
rs2144818822
|
|
|
NM_024422.6(DSC2):c.1263+12T>C
|
|
|
|
NM_024422.6(DSC2):c.1263+14A>T
|
|
|
|
NM_024422.6(DSC2):c.1263+19A>G
|
|
|
|
NM_024422.6(DSC2):c.1263+8_1263+10del
|
rs2144818765
|
|
|
NM_024422.6(DSC2):c.1264-15C>T
|
rs1361768625
|
|
|
NM_024422.6(DSC2):c.1264-19A>G
|
|
|
|
NM_024422.6(DSC2):c.1284G>A (p.Lys428=)
|
rs1987176408
|
|
|
NM_024422.6(DSC2):c.129A>G (p.Leu43=)
|
rs1987671247
|
|
|
NM_024422.6(DSC2):c.12C>A (p.Ala4=)
|
rs1555641335
|
|
|
NM_024422.6(DSC2):c.1317T>C (p.Asn439=)
|
rs1987173870
|
|
|
NM_024422.6(DSC2):c.1323T>C (p.Ala441=)
|
rs745795354
|
|
|
NM_024422.6(DSC2):c.1323T>G (p.Ala441=)
|
rs745795354
|
|
|
NM_024422.6(DSC2):c.1326A>G (p.Pro442=)
|
|
|
|
NM_024422.6(DSC2):c.1371A>G (p.Thr457=)
|
rs1555638728
|
|
|
NM_024422.6(DSC2):c.1374T>A (p.Val458=)
|
rs1295460147
|
|
|
NM_024422.6(DSC2):c.1446A>G (p.Glu482=)
|
|
|
|
NM_024422.6(DSC2):c.1452A>G (p.Ala484=)
|
rs1555638690
|
|
|
NM_024422.6(DSC2):c.1494A>G (p.Pro498=)
|
|
|
|
NM_024422.6(DSC2):c.1520+20A>T
|
|
|
|
NM_024422.6(DSC2):c.1521-11A>G
|
|
|
|
NM_024422.6(DSC2):c.1521-14A>G
|
|
|
|
NM_024422.6(DSC2):c.1521-23_1521-8del
|
|
|
|
NM_024422.6(DSC2):c.154+15A>C
|
|
|
|
NM_024422.6(DSC2):c.154+9G>A
|
rs562001495
|
|
|
NM_024422.6(DSC2):c.155-13A>G
|
|
|
|
NM_024422.6(DSC2):c.155-15G>A
|
|
|
|
NM_024422.6(DSC2):c.155-17G>A
|
|
|
|
NM_024422.6(DSC2):c.155-17G>T
|
|
|
|
NM_024422.6(DSC2):c.1557C>T (p.Thr519=)
|
rs778658088
|
|
|
NM_024422.6(DSC2):c.1575A>T (p.Gly525=)
|
|
|
|
NM_024422.6(DSC2):c.1608G>A (p.Glu536=)
|
|
|
|
NM_024422.6(DSC2):c.1620C>A (p.Ile540=)
|
rs765374888
|
|
|
NM_024422.6(DSC2):c.1620C>T (p.Ile540=)
|
|
|
|
NM_024422.6(DSC2):c.1647C>T (p.Val549=)
|
rs2144812470
|
|
|
NM_024422.6(DSC2):c.1653A>G (p.Ala551=)
|
rs1021990449
|
|
|
NM_024422.6(DSC2):c.1663+9T>C
|
|
|
|
NM_024422.6(DSC2):c.1664-10A>G
|
|
|
|
NM_024422.6(DSC2):c.1664-19T>C
|
|
|
|
NM_024422.6(DSC2):c.1686A>C (p.Thr562=)
|
rs1986964013
|
|
|
NM_024422.6(DSC2):c.1707C>T (p.Asp569=)
|
rs201517977
|
|
|
NM_024422.6(DSC2):c.171C>T (p.Cys57=)
|
|
|
|
NM_024422.6(DSC2):c.1728C>T (p.Phe576=)
|
rs1458351294
|
|
|
NM_024422.6(DSC2):c.1734T>G (p.Pro578=)
|
|
|
|
NM_024422.6(DSC2):c.1750A>G (p.Ile584Val)
|
rs755041461
|
|
|
NM_024422.6(DSC2):c.1752C>T (p.Ile584=)
|
|
|
|
NM_024422.6(DSC2):c.180T>A (p.Ala60=)
|
rs2144847012
|
|
|
NM_024422.6(DSC2):c.1812T>C (p.His604=)
|
|
|
|
NM_024422.6(DSC2):c.1815C>T (p.Gly605=)
|
rs770678394
|
|
|
NM_024422.6(DSC2):c.1824T>C (p.Phe608=)
|
|
|
|
NM_024422.6(DSC2):c.1830T>C (p.Phe610=)
|
rs1986953386
|
|
|
NM_024422.6(DSC2):c.1833T>C (p.Ser611=)
|
rs2144799607
|
|
|
NM_024422.6(DSC2):c.1848T>A (p.Thr616=)
|
|
|
|
NM_024422.6(DSC2):c.1875G>A (p.Leu625=)
|
rs142594406
|
|
|
NM_024422.6(DSC2):c.1888+20G>A
|
|
|
|
NM_024422.6(DSC2):c.1889-14A>G
|
|
|
|
NM_024422.6(DSC2):c.189A>G (p.Leu63=)
|
rs1347894973
|
|
|
NM_024422.6(DSC2):c.1935A>G (p.Ser645=)
|
rs878855084
|
|
|
NM_024422.6(DSC2):c.1938T>C (p.Tyr646=)
|
rs397517395
|
|
|
NM_024422.6(DSC2):c.1956G>T (p.Val652=)
|
|
|
|
NM_024422.6(DSC2):c.1965A>G (p.Arg655=)
|
|
|
|
NM_024422.6(DSC2):c.1977T>C (p.Ser659=)
|
rs770010850
|
|
|
NM_024422.6(DSC2):c.1980T>C (p.Ser660=)
|
rs1986841255
|
|
|
NM_024422.6(DSC2):c.2010C>T (p.Asp670=)
|
|
|
|
NM_024422.6(DSC2):c.2013C>T (p.Cys671=)
|
rs2144791194
|
|
|
NM_024422.6(DSC2):c.2049A>C (p.Pro683=)
|
|
|
|
NM_024422.6(DSC2):c.2058C>T (p.Gly686=)
|
rs1177700048
|
|
|
NM_024422.6(DSC2):c.2061T>C (p.Gly687=)
|
|
|
|
NM_024422.6(DSC2):c.2097A>G (p.Ala699=)
|
|
|
|
NM_024422.6(DSC2):c.2106G>A (p.Leu702=)
|
|
|
|
NM_024422.6(DSC2):c.2116T>C (p.Leu706=)
|
rs1986829654
|
|
|
NM_024422.6(DSC2):c.2125+8T>C
|
|
|
|
NM_024422.6(DSC2):c.2125+9T>G
|
rs1555637547
|
|
|
NM_024422.6(DSC2):c.2126-15dup
|
|
|
|
NM_024422.6(DSC2):c.2126-20A>C
|
|
|
|
NM_024422.6(DSC2):c.2126-4C>A
|
rs2144788686
|
|
|
NM_024422.6(DSC2):c.2126-6C>T
|
|
|
|
NM_024422.6(DSC2):c.2142G>A (p.Leu714=)
|
|
|
|
NM_024422.6(DSC2):c.2160G>C (p.Gly720=)
|
rs2144788466
|
|
|
NM_024422.6(DSC2):c.2175A>G (p.Pro725=)
|
|
|
|
NM_024422.6(DSC2):c.2194T>C (p.Leu732=)
|
|
|
|
NM_024422.6(DSC2):c.2199C>T (p.Ala733=)
|
|
|
|
NM_024422.6(DSC2):c.2217A>G (p.Val739=)
|
|
|
|
NM_024422.6(DSC2):c.2217A>T (p.Val739=)
|
|
|
|
NM_024422.6(DSC2):c.2250+14C>T
|
|
|
|
NM_024422.6(DSC2):c.2251-19C>T
|
|
|
|
NM_024422.6(DSC2):c.2262T>C (p.Asn754=)
|
rs2144784514
|
|
|
NM_024422.6(DSC2):c.2265C>T (p.Gly755=)
|
|
|
|
NM_024422.6(DSC2):c.2271A>G (p.Thr757=)
|
rs2144784473
|
|
|
NM_024422.6(DSC2):c.2286C>T (p.Gly762=)
|
rs549251334
|
|
|
NM_024422.6(DSC2):c.2289T>A (p.Ala763=)
|
|
|
|
NM_024422.6(DSC2):c.2289T>C (p.Ala763=)
|
rs1986739564
|
|
|
NM_024422.6(DSC2):c.2304T>C (p.Val768=)
|
|
|
|
NM_024422.6(DSC2):c.2352C>T (p.Ile784=)
|
rs562571453
|
|
|
NM_024422.6(DSC2):c.2373C>T (p.His791=)
|
|
|
|
NM_024422.6(DSC2):c.2382G>C (p.Ser794=)
|
rs761322462
|
|
|
NM_024422.6(DSC2):c.2394G>A (p.Arg798=)
|
rs1986729754
|
|
|
NM_024422.6(DSC2):c.2406C>T (p.His802=)
|
|
|
|
NM_024422.6(DSC2):c.240T>C (p.Tyr80=)
|
|
|
|
NM_024422.6(DSC2):c.2442G>C (p.Thr814=)
|
rs750971227
|
|
|
NM_024422.6(DSC2):c.2469C>T (p.Tyr823=)
|
rs1393087393
|
|
|
NM_024422.6(DSC2):c.2484T>C (p.Ser828=)
|
|
|
|
NM_024422.6(DSC2):c.2499T>A (p.Arg833=)
|
|
|
|
NM_024422.6(DSC2):c.2502T>C (p.Leu834=)
|
rs1598570166
|
|
|
NM_024422.6(DSC2):c.2505T>G (p.Gly835=)
|
|
|
|
NM_024422.6(DSC2):c.2508+15G>A
|
|
|
|
NM_024422.6(DSC2):c.2508+17G>A
|
|
|
|
NM_024422.6(DSC2):c.2508+19C>A
|
|
|
|
NM_024422.6(DSC2):c.2508+20C>T
|
|
|
|
NM_024422.6(DSC2):c.2509-11C>G
|
rs1353395919
|
|
|
NM_024422.6(DSC2):c.2509-15T>A
|
rs2144781524
|
|
|
NM_024422.6(DSC2):c.2509-19G>A
|
|
|
|
NM_024422.6(DSC2):c.2509-20_2509-18del
|
|
|
|
NM_024422.6(DSC2):c.2509-4G>A
|
|
|
|
NM_024422.6(DSC2):c.2514G>A (p.Val838=)
|
|
|
|
NM_024422.6(DSC2):c.2541C>T (p.His847=)
|
rs1598569474
|
|
|
NM_024422.6(DSC2):c.2559T>C (p.Tyr853=)
|
|
|
|
NM_024422.6(DSC2):c.255T>A (p.Ile85=)
|
rs970871881
|
|
|
NM_024422.6(DSC2):c.255T>C (p.Ile85=)
|
|
|
|
NM_024422.6(DSC2):c.2562C>T (p.Val854=)
|
rs1207984278
|
|
|
NM_024422.6(DSC2):c.2568A>G (p.Thr856=)
|
rs1986693059
|
|
|
NM_024422.6(DSC2):c.2589A>T (p.Gly863=)
|
|
|
|
NM_024422.6(DSC2):c.2625A>G (p.Arg875=)
|
|
|
|
NM_024422.6(DSC2):c.2628A>G (p.Gln876=)
|
|
|
|
NM_024422.6(DSC2):c.2640G>A (p.Gly880=)
|
rs2144780787
|
|
|
NM_024422.6(DSC2):c.2646A>G (p.Glu882=)
|
rs773604134
|
|
|
NM_024422.6(DSC2):c.264C>T (p.Ser88=)
|
rs1435506924
|
|
|
NM_024422.6(DSC2):c.288A>T (p.Ile96=)
|
|
|
|
NM_024422.6(DSC2):c.337T>C (p.Leu113=)
|
rs2144846288
|
|
|
NM_024422.6(DSC2):c.33C>T (p.Asn11=)
|
rs1987976628
|
|
|
NM_024422.6(DSC2):c.342G>A (p.Glu114=)
|
rs1598591230
|
|
|
NM_024422.6(DSC2):c.34G>C (p.Gly12Arg)
|
rs568391206
|
|
|
NM_024422.6(DSC2):c.354+10G>C
|
rs1987618587
|
|
|
NM_024422.6(DSC2):c.354+12T>A
|
|
|
|
NM_024422.6(DSC2):c.354+15A>C
|
rs1303672773
|
|
|
NM_024422.6(DSC2):c.354+16T>C
|
|
|
|
NM_024422.6(DSC2):c.354+7A>T
|
|
|
|
NM_024422.6(DSC2):c.354+9G>C
|
rs1397580089
|
|
|
NM_024422.6(DSC2):c.355-10A>C
|
|
|
|
NM_024422.6(DSC2):c.355-10A>G
|
|
|
|
NM_024422.6(DSC2):c.355-12T>C
|
rs1987585083
|
|
|
NM_024422.6(DSC2):c.355-18C>T
|
rs1159494088
|
|
|
NM_024422.6(DSC2):c.355-9T>C
|
rs925436741
|
|
|
NM_024422.6(DSC2):c.357C>T (p.Val119=)
|
rs1452043194
|
|
|
NM_024422.6(DSC2):c.369A>G (p.Arg123=)
|
|
|
|
NM_024422.6(DSC2):c.372T>C (p.His124=)
|
|
|
|
NM_024422.6(DSC2):c.381A>G (p.Glu127=)
|
|
|
|
NM_024422.6(DSC2):c.393G>A (p.Arg131=)
|
|
|
|
NM_024422.6(DSC2):c.429G>C (p.Ser143=)
|
rs542638302
|
|
|
NM_024422.6(DSC2):c.441C>T (p.Asn147=)
|
rs2144843142
|
|
|
NM_024422.6(DSC2):c.453T>C (p.Pro151=)
|
|
|
|
NM_024422.6(DSC2):c.471A>G (p.Gln157=)
|
rs1367783973
|
|
|
NM_024422.6(DSC2):c.475-13A>G
|
rs751631188
|
|
|
NM_024422.6(DSC2):c.475-5T>C
|
rs1555639919
|
|
|
NM_024422.6(DSC2):c.525T>A (p.Gly175=)
|
|
|
|
NM_024422.6(DSC2):c.525T>C (p.Gly175=)
|
rs541223771
|
|
|
NM_024422.6(DSC2):c.549G>A (p.Arg183=)
|
|
|
|
NM_024422.6(DSC2):c.549G>C (p.Arg183=)
|
rs774025474
|
|
|
NM_024422.6(DSC2):c.555A>G (p.Leu185=)
|
rs768367488
|
|
|
NM_024422.6(DSC2):c.588T>C (p.Tyr196=)
|
rs1987518239
|
|
|
NM_024422.6(DSC2):c.621A>G (p.Glu207=)
|
|
|
|
NM_024422.6(DSC2):c.630+10A>G
|
rs2144838541
|
|
|
NM_024422.6(DSC2):c.630+12A>G
|
|
|
|
NM_024422.6(DSC2):c.630+19G>T
|
rs750910749
|
|
|
NM_024422.6(DSC2):c.630+8C>A
|
rs201147144
|
|
|
NM_024422.6(DSC2):c.631-10C>G
|
rs745848441
|
|
|
NM_024422.6(DSC2):c.631-10C>T
|
|
|
|
NM_024422.6(DSC2):c.648A>C (p.Thr216=)
|
|
|
|
NM_024422.6(DSC2):c.660G>T (p.Gly220=)
|
|
|
|
NM_024422.6(DSC2):c.66C>T (p.Leu22=)
|
rs1987974460
|
|
|
NM_024422.6(DSC2):c.684C>A (p.Pro228=)
|
rs2144833912
|
|
|
NM_024422.6(DSC2):c.69+12C>A
|
rs1326854054
|
|
|
NM_024422.6(DSC2):c.69+15G>C
|
|
|
|
NM_024422.6(DSC2):c.69+7G>A
|
rs544403465
|
|
|
NM_024422.6(DSC2):c.69+9A>T
|
|
|
|
NM_024422.6(DSC2):c.693C>A (p.Ile231=)
|
rs776727405
|
|
|
NM_024422.6(DSC2):c.702G>A (p.Glu234=)
|
rs397517402
|
|
|
NM_024422.6(DSC2):c.72C>A (p.Ile24=)
|
rs757826575
|
|
|
NM_024422.6(DSC2):c.741T>C (p.Thr247=)
|
rs1555639671
|
|
|
NM_024422.6(DSC2):c.741T>G (p.Thr247=)
|
rs1555639671
|
|
|
NM_024422.6(DSC2):c.744T>C (p.Tyr248=)
|
rs756495155
|
|
|
NM_024422.6(DSC2):c.775+11C>A
|
|
|
|
NM_024422.6(DSC2):c.775+18C>T
|
|
|
|
NM_024422.6(DSC2):c.776-13dup
|
rs1987414584
|
|
|
NM_024422.6(DSC2):c.776-5T>C
|
|
|
|
NM_024422.6(DSC2):c.807C>T (p.Asp269=)
|
|
|
|
NM_024422.6(DSC2):c.834A>G (p.Thr278=)
|
rs2144830763
|
|
|
NM_024422.6(DSC2):c.858G>C (p.Gly286=)
|
|
|
|
NM_024422.6(DSC2):c.879C>A (p.Thr293=)
|
rs1394417853
|
|
|
NM_024422.6(DSC2):c.882A>G (p.Leu294=)
|
|
|
|
NM_024422.6(DSC2):c.906C>T (p.Gly302=)
|
rs776857618
|
|
|
NM_024422.6(DSC2):c.915C>T (p.Thr305=)
|
rs1429668963
|
|
|
NM_024422.6(DSC2):c.927T>C (p.Ser309=)
|
rs1434821927
|
|
|
NM_024422.6(DSC2):c.942+11C>A
|
|
|
|
NM_024422.6(DSC2):c.942+11_942+13dup
|
|
|
|
NM_024422.6(DSC2):c.942+14_942+15insTTG
|
rs2144830055
|
|
|
NM_024422.6(DSC2):c.942+21A>T
|
|
|
|
NM_024422.6(DSC2):c.942+8A>C
|
rs1475176981
|
|
|
NM_024422.6(DSC2):c.942+9A>G
|
|
|
|
NM_024422.6(DSC2):c.943-17T>A
|
|
|
|
NM_024422.6(DSC2):c.945A>G (p.Leu315=)
|
rs971660963
|
|
|
NM_024422.6(DSC2):c.975A>C (p.Val325=)
|
|
|
|
NM_024422.6(DSC2):c.978A>G (p.Gln326=)
|
rs1598583853
|
|
|
NM_024422.6(DSC2):c.990T>G (p.Gly330=)
|
rs1396481707
|
|
|
NM_032578.4(MYPN):c.100C>A (p.Arg34=)
|
|
|
|
NM_032578.4(MYPN):c.1011A>G (p.Gly337=)
|
|
|
|
NM_032578.4(MYPN):c.1020C>T (p.Ser340=)
|
rs367548508
|
|
|
NM_032578.4(MYPN):c.1053G>A (p.Ser351=)
|
|
|
|
NM_032578.4(MYPN):c.1053G>T (p.Ser351=)
|
rs371306075
|
|
|
NM_032578.4(MYPN):c.1056T>C (p.Thr352=)
|
rs2134066838
|
|
|
NM_032578.4(MYPN):c.105G>C (p.Ala35=)
|
|
|
|
NM_032578.4(MYPN):c.1078+17T>G
|
|
|
|
NM_032578.4(MYPN):c.1079-17T>C
|
|
|
|
NM_032578.4(MYPN):c.1079-8T>C
|
|
|
|
NM_032578.4(MYPN):c.1089T>C (p.Ser363=)
|
rs1589553096
|
|
|
NM_032578.4(MYPN):c.1110T>C (p.Pro370=)
|
rs1554842258
|
|
|
NM_032578.4(MYPN):c.1131-19T>C
|
rs2134089256
|
|
|
NM_032578.4(MYPN):c.1131-20A>G
|
|
|
|
NM_032578.4(MYPN):c.1161T>A (p.Pro387=)
|
|
|
|
NM_032578.4(MYPN):c.1164C>T (p.Pro388=)
|
rs2134089520
|
|
|
NM_032578.4(MYPN):c.1170C>T (p.Thr390=)
|
|
|
|
NM_032578.4(MYPN):c.1227T>G (p.Arg409=)
|
|
|
|
NM_032578.4(MYPN):c.1246-5del
|
rs2134097247
|
|
|
NM_032578.4(MYPN):c.1266C>T (p.Tyr422=)
|
|
|
|
NM_032578.4(MYPN):c.1305T>A (p.Pro435=)
|
rs750672797
|
|
|
NM_032578.4(MYPN):c.1305T>G (p.Pro435=)
|
|
|
|
NM_032578.4(MYPN):c.1308G>A (p.Val436=)
|
|
|
|
NM_032578.4(MYPN):c.1317+13T>C
|
rs2042742828
|
|
|
NM_032578.4(MYPN):c.1317+17T>A
|
|
|
|
NM_032578.4(MYPN):c.1317+17T>C
|
|
|
|
NM_032578.4(MYPN):c.1318-12T>A
|
|
|
|
NM_032578.4(MYPN):c.1318-20C>T
|
rs2042918490
|
|
|
NM_032578.4(MYPN):c.1318-6T>C
|
rs1362864653
|
|
|
NM_032578.4(MYPN):c.1318-8_1318-6del
|
|
|
|
NM_032578.4(MYPN):c.1335A>T (p.Ser445=)
|
rs1554844105
|
|
|
NM_032578.4(MYPN):c.1371A>G (p.Arg457=)
|
|
|
|
NM_032578.4(MYPN):c.1374A>G (p.Val458=)
|
rs538038536
|
|
|
NM_032578.4(MYPN):c.1386A>T (p.Pro462=)
|
|
|
|
NM_032578.4(MYPN):c.138T>C (p.Ser46=)
|
rs1010889936
|
|
|
NM_032578.4(MYPN):c.1407T>C (p.Tyr469=)
|
|
|
|
NM_032578.4(MYPN):c.1416G>A (p.Gly472=)
|
|
|
|
NM_032578.4(MYPN):c.144T>C (p.Ser48=)
|
|
|
|
NM_032578.4(MYPN):c.1455G>A (p.Gln485=)
|
rs954974822
|
|
|
NM_032578.4(MYPN):c.1459+19T>C
|
|
|
|
NM_032578.4(MYPN):c.1459+8_1459+11del
|
|
|
|
NM_032578.4(MYPN):c.1460-13T>C
|
|
|
|
NM_032578.4(MYPN):c.1483+22_1483+26del
|
|
|
|
NM_032578.4(MYPN):c.1483+9G>A
|
rs760851247
|
|
|
NM_032578.4(MYPN):c.1521A>G (p.Ala507=)
|
rs2134165606
|
|
|
NM_032578.4(MYPN):c.1548T>G (p.Thr516=)
|
rs1589577257
|
|
|
NM_032578.4(MYPN):c.1578C>T (p.Ser526=)
|
|
|
|
NM_032578.4(MYPN):c.1584A>C (p.Ala528=)
|
rs1019522813
|
|
|
NM_032578.4(MYPN):c.1588C>T (p.Leu530=)
|
|
|
|
NM_032578.4(MYPN):c.1600+12T>A
|
rs2134166070
|
|
|
NM_032578.4(MYPN):c.1600+12_1600+13del
|
|
|
|
NM_032578.4(MYPN):c.1600+18C>T
|
|
|
|
NM_032578.4(MYPN):c.1611C>T (p.Asp537=)
|
rs931476648
|
|
|
NM_032578.4(MYPN):c.1644C>T (p.Asn548=)
|
rs183523848
|
|
|
NM_032578.4(MYPN):c.1650C>T (p.Thr550=)
|
|
|
|
NM_032578.4(MYPN):c.1653C>T (p.Thr551=)
|
|
|
|
NM_032578.4(MYPN):c.1662A>T (p.Ala554=)
|
rs71584488
|
|
|
NM_032578.4(MYPN):c.1719C>T (p.Pro573=)
|
|
|
|
NM_032578.4(MYPN):c.1722C>A (p.Pro574=)
|
|
|
|
NM_032578.4(MYPN):c.1722C>T (p.Pro574=)
|
rs1003969153
|
|
|
NM_032578.4(MYPN):c.1776C>T (p.Ser592=)
|
|
|
|
NM_032578.4(MYPN):c.1830A>G (p.Glu610=)
|
rs769460067
|
|
|
NM_032578.4(MYPN):c.1845T>C (p.Ala615=)
|
|
|
|
NM_032578.4(MYPN):c.186T>C (p.Asp62=)
|
rs374434233
|
|
|
NM_032578.4(MYPN):c.1875C>G (p.Pro625=)
|
rs2673793
|
|
|
NM_032578.4(MYPN):c.1887G>A (p.Gln629=)
|
rs1253237224
|
|
|
NM_032578.4(MYPN):c.189T>C (p.Leu63=)
|
rs2133993954
|
|
|
NM_032578.4(MYPN):c.1932C>A (p.Ser644=)
|
rs187664226
|
|
|
NM_032578.4(MYPN):c.195C>A (p.Ala65=)
|
|
|
|
NM_032578.4(MYPN):c.195C>T (p.Ala65=)
|
|
|
|
NM_032578.4(MYPN):c.1974-13G>C
|
|
|
|
NM_032578.4(MYPN):c.1974-20C>T
|
|
|
|
NM_032578.4(MYPN):c.1977T>C (p.Asp659=)
|
rs886039179
|
|
|
NM_032578.4(MYPN):c.2025C>T (p.His675=)
|
|
|
|
NM_032578.4(MYPN):c.2028A>G (p.Gln676=)
|
rs876657537
|
|
|
NM_032578.4(MYPN):c.2049A>C (p.Ser683=)
|
|
|
|
NM_032578.4(MYPN):c.204C>T (p.Ser68=)
|
rs1035588500
|
|
|
NM_032578.4(MYPN):c.2067T>A (p.Pro689=)
|
rs2134198866
|
|
|
NM_032578.4(MYPN):c.2106G>T (p.Ala702=)
|
rs560387426
|
|
|
NM_032578.4(MYPN):c.2151G>C (p.Thr717=)
|
|
|
|
NM_032578.4(MYPN):c.2157C>T (p.Ser719=)
|
|
|
|
NM_032578.4(MYPN):c.2169G>A (p.Pro723=)
|
rs149357638
|
|
|
NM_032578.4(MYPN):c.216A>G (p.Leu72=)
|
rs960256597
|
|
|
NM_032578.4(MYPN):c.2190G>T (p.Thr730=)
|
|
|
|
NM_032578.4(MYPN):c.2199C>A (p.Thr733=)
|
|
|
|
NM_032578.4(MYPN):c.219C>T (p.Asp73=)
|
|
|
|
NM_032578.4(MYPN):c.2229G>C (p.Pro743=)
|
rs148360410
|
|
|
NM_032578.4(MYPN):c.2235C>T (p.Phe745=)
|
|
|
|
NM_032578.4(MYPN):c.225T>C (p.Ser75=)
|
|
|
|
NM_032578.4(MYPN):c.2280A>G (p.Lys760=)
|
rs2134200136
|
|
|
NM_032578.4(MYPN):c.2322T>A (p.Ser774=)
|
|
|
|
NM_032578.4(MYPN):c.2337C>T (p.Ser779=)
|
rs2134200452
|
|
|
NM_032578.4(MYPN):c.2370A>G (p.Thr790=)
|
rs2134200602
|
|
|
NM_032578.4(MYPN):c.237A>G (p.Ala79=)
|
|
|
|
NM_032578.4(MYPN):c.2385A>G (p.Pro795=)
|
|
|
|
NM_032578.4(MYPN):c.2388A>G (p.Pro796=)
|
|
|
|
NM_032578.4(MYPN):c.2409C>A (p.Ser803Arg)
|
rs3814182
|
|
|
NM_032578.4(MYPN):c.2409C>T (p.Ser803=)
|
|
|
|
NM_032578.4(MYPN):c.2421T>C (p.Phe807=)
|
|
|
|
NM_032578.4(MYPN):c.2427C>T (p.Pro809=)
|
|
|
|
NM_032578.4(MYPN):c.243G>A (p.Leu81=)
|
rs2133994150
|
|
|
NM_032578.4(MYPN):c.2442A>T (p.Pro814=)
|
|
|
|
NM_032578.4(MYPN):c.2463C>T (p.Ser821=)
|
rs2134201312
|
|
|
NM_032578.4(MYPN):c.2484T>C (p.Ala828=)
|
|
|
|
NM_032578.4(MYPN):c.2487C>T (p.Phe829=)
|
rs2043197476
|
|
|
NM_032578.4(MYPN):c.2502G>T (p.Leu834=)
|
|
|
|
NM_032578.4(MYPN):c.2550A>G (p.Arg850=)
|
rs886039109
|
|
|
NM_032578.4(MYPN):c.2564+16G>T
|
rs1473150031
|
|
|
NM_032578.4(MYPN):c.2565-17G>A
|
rs1334366122
|
|
|
NM_032578.4(MYPN):c.2565-19G>C
|
|
|
|
NM_032578.4(MYPN):c.2601T>C (p.Ser867=)
|
rs771473380
|
|
|
NM_032578.4(MYPN):c.2622T>C (p.Asp874=)
|
|
|
|
NM_032578.4(MYPN):c.2628T>A (p.Ile876=)
|
|
|
|
NM_032578.4(MYPN):c.2659T>C (p.Leu887=)
|
rs2134204846
|
|
|
NM_032578.4(MYPN):c.2703+17_2703+18delinsCG
|
rs2134205089
|
|
|
NM_032578.4(MYPN):c.2704-17G>C
|
|
|
|
NM_032578.4(MYPN):c.2704-18C>T
|
|
|
|
NM_032578.4(MYPN):c.2704-7T>G
|
rs1589602602
|
|
|
NM_032578.4(MYPN):c.2733G>A (p.Arg911=)
|
rs1060504954
|
|
|
NM_032578.4(MYPN):c.2736G>A (p.Leu912=)
|
rs1057523127
|
|
|
NM_032578.4(MYPN):c.2799A>G (p.Gln933=)
|
|
|
|
NM_032578.4(MYPN):c.2802T>C (p.His934=)
|
|
|
|
NM_032578.4(MYPN):c.2817G>C (p.Thr939=)
|
|
|
|
NM_032578.4(MYPN):c.2847G>A (p.Lys949=)
|
rs2134257828
|
|
|
NM_032578.4(MYPN):c.2859C>T (p.His953=)
|
|
|
|
NM_032578.4(MYPN):c.2871A>C (p.Thr957=)
|
|
|
|
NM_032578.4(MYPN):c.2895C>T (p.Thr965=)
|
rs2134258213
|
|
|
NM_032578.4(MYPN):c.2925+11T>G
|
|
|
|
NM_032578.4(MYPN):c.2926-17A>T
|
|
|
|
NM_032578.4(MYPN):c.2949G>A (p.Lys983=)
|
rs375015526
|
|
|
NM_032578.4(MYPN):c.2952G>A (p.Gln984=)
|
|
|
|
NM_032578.4(MYPN):c.2967T>C (p.Asn989=)
|
rs751078168
|
|
|
NM_032578.4(MYPN):c.2986C>A (p.Arg996=)
|
rs753094063
|
|
|
NM_032578.4(MYPN):c.2988A>G (p.Arg996=)
|
rs1589607174
|
|
|
NM_032578.4(MYPN):c.3000G>A (p.Gly1000=)
|
rs757445753
|
|
|
NM_032578.4(MYPN):c.3003A>G (p.Thr1001=)
|
rs2134277927
|
|
|
NM_032578.4(MYPN):c.3048C>T (p.Asn1016=)
|
|
|
|
NM_032578.4(MYPN):c.3054C>T (p.Thr1018=)
|
|
|
|
NM_032578.4(MYPN):c.3063A>G (p.Ala1021=)
|
|
|
|
NM_032578.4(MYPN):c.3075+13G>C
|
rs1271146904
|
|
|
NM_032578.4(MYPN):c.3075+15T>C
|
|
|
|
NM_032578.4(MYPN):c.3075+5_3075+13del
|
rs864622652
|
|
|
NM_032578.4(MYPN):c.3076-17C>G
|
rs749100162
|
|
|
NM_032578.4(MYPN):c.3076-17C>T
|
|
|
|
NM_032578.4(MYPN):c.3076-4T>A
|
|
|
|
NM_032578.4(MYPN):c.3099C>T (p.His1033=)
|
rs1486921301
|
|
|
NM_032578.4(MYPN):c.3138C>T (p.Thr1046=)
|
rs2043589814
|
|
|
NM_032578.4(MYPN):c.3158+18_3158+19del
|
|
|
|
NM_032578.4(MYPN):c.3158+9A>T
|
|
|
|
NM_032578.4(MYPN):c.3186C>T (p.Asp1062=)
|
|
|
|
NM_032578.4(MYPN):c.3195C>T (p.Pro1065=)
|
|
|
|
NM_032578.4(MYPN):c.3207C>T (p.Arg1069=)
|
|
|
|
NM_032578.4(MYPN):c.3237T>C (p.Pro1079=)
|
rs2134290278
|
|
|
NM_032578.4(MYPN):c.3240G>A (p.Gly1080=)
|
rs2134290293
|
|
|
NM_032578.4(MYPN):c.3267C>T (p.Leu1089=)
|
|
|
|
NM_032578.4(MYPN):c.3285+18T>C
|
|
|
|
NM_032578.4(MYPN):c.3285+20C>A
|
|
|
|
NM_032578.4(MYPN):c.3286-10T>C
|
rs2134299174
|
|
|
NM_032578.4(MYPN):c.3286-17G>A
|
|
|
|
NM_032578.4(MYPN):c.3286-18T>C
|
|
|
|
NM_032578.4(MYPN):c.3306G>A (p.Pro1102=)
|
rs771521427
|
|
|
NM_032578.4(MYPN):c.3306G>T (p.Pro1102=)
|
rs771521427
|
|
|
NM_032578.4(MYPN):c.3354C>G (p.Ser1118=)
|
rs1589611936
|
|
|
NM_032578.4(MYPN):c.3414G>A (p.Gln1138=)
|
|
|
|
NM_032578.4(MYPN):c.3423A>G (p.Ala1141=)
|
rs776844468
|
|
|
NM_032578.4(MYPN):c.3493+9T>C
|
rs2134300845
|
|
|
NM_032578.4(MYPN):c.3493+9T>G
|
|
|
|
NM_032578.4(MYPN):c.3494-14C>T
|
rs776204291
|
|
|
NM_032578.4(MYPN):c.3494-14del
|
rs752408270
|
|
|
NM_032578.4(MYPN):c.3494-15C>T
|
|
|
|
NM_032578.4(MYPN):c.3494-6G>A
|
rs768274852
|
|
|
NM_032578.4(MYPN):c.3494-9C>T
|
|
|
|
NM_032578.4(MYPN):c.3522C>T (p.Ile1174=)
|
|
|
|
NM_032578.4(MYPN):c.3552C>G (p.Pro1184=)
|
rs749396604
|
|
|
NM_032578.4(MYPN):c.3561C>T (p.His1187=)
|
rs1386215092
|
|
|
NM_032578.4(MYPN):c.3576G>A (p.Glu1192=)
|
rs1487958900
|
|
|
NM_032578.4(MYPN):c.3659+13C>T
|
|
|
|
NM_032578.4(MYPN):c.3687C>T (p.Ala1229=)
|
rs2043823035
|
|
|
NM_032578.4(MYPN):c.3696C>T (p.Leu1232=)
|
rs2134338214
|
|
|
NM_032578.4(MYPN):c.3702G>A (p.Gln1234=)
|
|
|
|
NM_032578.4(MYPN):c.3735G>A (p.Thr1245=)
|
|
|
|
NM_032578.4(MYPN):c.3735G>T (p.Thr1245=)
|
rs184347775
|
|
|
NM_032578.4(MYPN):c.3738G>A (p.Leu1246=)
|
|
|
|
NM_032578.4(MYPN):c.3762C>T (p.Ile1254=)
|
|
|
|
NM_032578.4(MYPN):c.3765G>A (p.Val1255=)
|
|
|
|
NM_032578.4(MYPN):c.3786T>C (p.Asp1262=)
|
rs993063021
|
|
|
NM_032578.4(MYPN):c.3793+17T>C
|
|
|
|
NM_032578.4(MYPN):c.3793+8T>C
|
|
|
|
NM_032578.4(MYPN):c.3794-13G>A
|
rs1004183832
|
|
|
NM_032578.4(MYPN):c.3794-19T>C
|
|
|
|
NM_032578.4(MYPN):c.3794-19T>G
|
rs1448398956
|
|
|
NM_032578.4(MYPN):c.3794-9A>C
|
rs1589622747
|
|
|
NM_032578.4(MYPN):c.3794-9A>T
|
|
|
|
NM_032578.4(MYPN):c.3813C>T (p.Ile1271=)
|
|
|
|
NM_032578.4(MYPN):c.3831C>T (p.Val1277=)
|
|
|
|
NM_032578.4(MYPN):c.3852C>T (p.Tyr1284=)
|
|
|
|
NM_032578.4(MYPN):c.3858T>A (p.Ser1286=)
|
rs2134357177
|
|
|
NM_032578.4(MYPN):c.3861C>T (p.Leu1287=)
|
rs2134357185
|
|
|
NM_032578.4(MYPN):c.3867T>C (p.Ser1289=)
|
|
|
|
NM_032578.4(MYPN):c.3879C>T (p.Asp1293=)
|
|
|
|
NM_032578.4(MYPN):c.3912G>A (p.Thr1304=)
|
rs1405000820
|
|
|
NM_032578.4(MYPN):c.3936G>A (p.Arg1312=)
|
|
|
|
NM_032578.4(MYPN):c.3939T>C (p.Ser1313=)
|
|
|
|
NM_032578.4(MYPN):c.3960T>G (p.Leu1320=)
|
|
|
|
NM_032578.4(MYPN):c.3963A>G (p.Ter1321=)
|
rs539338042
|
|
|
NM_032578.4(MYPN):c.396C>T (p.Pro132=)
|
|
|
|
NM_032578.4(MYPN):c.435G>A (p.Gln145=)
|
rs2133994889
|
|
|
NM_032578.4(MYPN):c.465C>A (p.Ala155=)
|
rs142867001
|
|
|
NM_032578.4(MYPN):c.486C>T (p.Ser162=)
|
|
|
|
NM_032578.4(MYPN):c.489C>T (p.Ser163=)
|
rs1277548524
|
|
|
NM_032578.4(MYPN):c.519T>C (p.Ile173=)
|
rs769771296
|
|
|
NM_032578.4(MYPN):c.591C>T (p.Ser197=)
|
rs374950923
|
|
|
NM_032578.4(MYPN):c.616C>A (p.Arg206=)
|
|
|
|
NM_032578.4(MYPN):c.651G>A (p.Ala217=)
|
rs2042252455
|
|
|
NM_032578.4(MYPN):c.678C>T (p.His226=)
|
rs1458929239
|
|
|
NM_032578.4(MYPN):c.682C>T (p.Leu228=)
|
|
|
|
NM_032578.4(MYPN):c.687A>G (p.Glu229=)
|
|
|
|
NM_032578.4(MYPN):c.708T>C (p.Arg236=)
|
rs1023787850
|
|
|
NM_032578.4(MYPN):c.72C>T (p.Thr24=)
|
|
|
|
NM_032578.4(MYPN):c.732G>A (p.Glu244=)
|
|
|
|
NM_032578.4(MYPN):c.741T>A (p.Gly247=)
|
|
|
|
NM_032578.4(MYPN):c.741T>G (p.Gly247=)
|
rs1589529211
|
|
|
NM_032578.4(MYPN):c.744A>G (p.Gly248=)
|
rs749058723
|
|
|
NM_032578.4(MYPN):c.768T>A (p.Pro256=)
|
|
|
|
NM_032578.4(MYPN):c.783T>C (p.Tyr261=)
|
|
|
|
NM_032578.4(MYPN):c.78T>C (p.His26=)
|
|
|
|
NM_032578.4(MYPN):c.807C>T (p.Pro269=)
|
|
|
|
NM_032578.4(MYPN):c.81G>A (p.Arg27=)
|
|
|
|
NM_032578.4(MYPN):c.834A>G (p.Arg278=)
|
rs2133996684
|
|
|
NM_032578.4(MYPN):c.84A>C (p.Gly28=)
|
rs2133993422
|
|
|
NM_032578.4(MYPN):c.861G>A (p.Gln287=)
|
rs559908964
|
|
|
NM_032578.4(MYPN):c.902+12C>T
|
|
|
|
NM_032578.4(MYPN):c.902+12_902+26del
|
|
|
|
NM_032578.4(MYPN):c.903-13del
|
|
|
|
NM_032578.4(MYPN):c.903-15T>C
|
|
|
|
NM_032578.4(MYPN):c.903-19C>G
|
|
|
|
NM_032578.4(MYPN):c.903-20C>A
|
|
|
|
NM_032578.4(MYPN):c.903-8C>G
|
rs2134066099
|
|
|
NM_032578.4(MYPN):c.951C>T (p.Ile317=)
|
rs759998419
|
|
|
NM_032578.4(MYPN):c.960A>G (p.Ala320=)
|
rs2134066348
|
|
|
NM_032578.4(MYPN):c.972C>T (p.His324=)
|
rs2134066433
|
|
|
NM_032578.4(MYPN):c.981C>G (p.Thr327=)
|
rs760798332
|
|
|
NM_032578.4(MYPN):c.984T>C (p.Ile328=)
|
rs146899174
|
|
|
NM_032578.4(MYPN):c.99T>C (p.Ser33=)
|
|
|
|
NM_033118.4(MYLK2):c.1035G>C (p.Leu345=)
|
|
|
|
NM_033118.4(MYLK2):c.1056G>A (p.Pro352=)
|
rs370053164
|
|
|
NM_033118.4(MYLK2):c.1056G>T (p.Pro352=)
|
rs370053164
|
|
|
NM_033118.4(MYLK2):c.1080G>A (p.Glu360=)
|
|
|
|
NM_033118.4(MYLK2):c.1083-8G>A
|
|
|
|
NM_033118.4(MYLK2):c.111C>A (p.Gly37=)
|
rs1389317242
|
|
|
NM_033118.4(MYLK2):c.1161C>G (p.Val387=)
|
|
|
|
NM_033118.4(MYLK2):c.1170C>T (p.Ile390=)
|
|
|
|
NM_033118.4(MYLK2):c.1225-13C>T
|
rs765889473
|
|
|
NM_033118.4(MYLK2):c.1225-14C>A
|
|
|
|
NM_033118.4(MYLK2):c.1245C>T (p.Val415=)
|
|
|
|
NM_033118.4(MYLK2):c.126G>A (p.Lys42=)
|
rs2123125859
|
|
|
NM_033118.4(MYLK2):c.1290A>C (p.Ala430=)
|
rs878855174
|
|
|
NM_033118.4(MYLK2):c.1295+12G>C
|
|
|
|
NM_033118.4(MYLK2):c.1295+9TGGG[2]
|
rs2123139600
|
|
|
NM_033118.4(MYLK2):c.1296-13G>A
|
|
|
|
NM_033118.4(MYLK2):c.135G>A (p.Pro45=)
|
|
|
|
NM_033118.4(MYLK2):c.1407G>A (p.Gly469=)
|
|
|
|
NM_033118.4(MYLK2):c.1424+19C>T
|
|
|
|
NM_033118.4(MYLK2):c.1424+8C>T
|
rs2062304481
|
|
|
NM_033118.4(MYLK2):c.1425-10C>G
|
rs759832182
|
|
|
NM_033118.4(MYLK2):c.1425-10C>T
|
|
|
|
NM_033118.4(MYLK2):c.1425-11C>A
|
|
|
|
NM_033118.4(MYLK2):c.1425-12C>T
|
|
|
|
NM_033118.4(MYLK2):c.1440C>T (p.Ser480=)
|
rs867518927
|
|
|
NM_033118.4(MYLK2):c.1446C>T (p.Phe482=)
|
rs1261064039
|
|
|
NM_033118.4(MYLK2):c.1515C>G (p.Thr505=)
|
rs930435016
|
|
|
NM_033118.4(MYLK2):c.1518T>C (p.Phe506=)
|
|
|
|
NM_033118.4(MYLK2):c.156A>G (p.Lys52=)
|
rs2123125914
|
|
|
NM_033118.4(MYLK2):c.1577+17A>G
|
rs2062308168
|
|
|
NM_033118.4(MYLK2):c.1577+20C>G
|
|
|
|
NM_033118.4(MYLK2):c.1578-11C>T
|
|
|
|
NM_033118.4(MYLK2):c.1578-15C>A
|
rs2123141194
|
|
|
NM_033118.4(MYLK2):c.1659C>A (p.Arg553=)
|
rs727504624
|
|
|
NM_033118.4(MYLK2):c.1710+14C>T
|
|
|
|
NM_033118.4(MYLK2):c.1710+14_1710+15delinsGG
|
rs2123141528
|
|
|
NM_033118.4(MYLK2):c.1710+15A>T
|
rs6060980
|
|
|
NM_033118.4(MYLK2):c.1710+18G>A
|
|
|
|
NM_033118.4(MYLK2):c.1710+20G>C
|
|
|
|
NM_033118.4(MYLK2):c.1710+20G>T
|
|
|
|
NM_033118.4(MYLK2):c.1711-4C>T
|
rs372190501
|
|
|
NM_033118.4(MYLK2):c.1790G>A (p.Ter597=)
|
|
|
|
NM_033118.4(MYLK2):c.240T>G (p.Gly80=)
|
|
|
|
NM_033118.4(MYLK2):c.249C>A (p.Gly83=)
|
|
|
|
NM_033118.4(MYLK2):c.255G>A (p.Gly85=)
|
|
|
|
NM_033118.4(MYLK2):c.255G>T (p.Gly85=)
|
|
|
|
NM_033118.4(MYLK2):c.258C>T (p.Pro86=)
|
rs149280577
|
|
|
NM_033118.4(MYLK2):c.303T>C (p.Thr101=)
|
rs1555789900
|
|
|
NM_033118.4(MYLK2):c.306G>A (p.Ala102=)
|
|
|
|
NM_033118.4(MYLK2):c.348A>G (p.Gly116=)
|
rs754876521
|
|
|
NM_033118.4(MYLK2):c.426C>G (p.Gly142=)
|
|
|
|
NM_033118.4(MYLK2):c.444T>C (p.His148=)
|
rs780660993
|
|
|
NM_033118.4(MYLK2):c.473+17G>C
|
rs772259200
|
|
|
NM_033118.4(MYLK2):c.473+18G>A
|
rs2123126696
|
|
|
NM_033118.4(MYLK2):c.474-10C>T
|
rs772534999
|
|
|
NM_033118.4(MYLK2):c.474-12C>T
|
|
|
|
NM_033118.4(MYLK2):c.474-19_474-18del
|
|
|
|
NM_033118.4(MYLK2):c.487C>T (p.Leu163=)
|
|
|
|
NM_033118.4(MYLK2):c.516A>C (p.Ser172=)
|
|
|
|
NM_033118.4(MYLK2):c.52+13G>C
|
|
|
|
NM_033118.4(MYLK2):c.52+19A>G
|
|
|
|
NM_033118.4(MYLK2):c.52+8G>A
|
|
|
|
NM_033118.4(MYLK2):c.52+9C>A
|
rs2062241484
|
|
|
NM_033118.4(MYLK2):c.53-20G>A
|
|
|
|
NM_033118.4(MYLK2):c.53-20G>T
|
|
|
|
NM_033118.4(MYLK2):c.573C>T (p.Ala191=)
|
|
|
|
NM_033118.4(MYLK2):c.615G>A (p.Lys205=)
|
|
|
|
NM_033118.4(MYLK2):c.627G>A (p.Glu209=)
|
rs587781091
|
|
|
NM_033118.4(MYLK2):c.648C>A (p.Gly216=)
|
rs761603914
|
|
|
NM_033118.4(MYLK2):c.666G>A (p.Gly222=)
|
|
|
|
NM_033118.4(MYLK2):c.669C>T (p.Asp223=)
|
rs2123128080
|
|
|
NM_033118.4(MYLK2):c.711A>G (p.Lys237=)
|
|
|
|
NM_033118.4(MYLK2):c.732C>G (p.Leu244=)
|
rs2123128189
|
|
|
NM_033118.4(MYLK2):c.75A>G (p.Thr25=)
|
|
|
|
NM_033118.4(MYLK2):c.772+14A>T
|
rs2062253179
|
|
|
NM_033118.4(MYLK2):c.773-15T>C
|
|
|
|
NM_033118.4(MYLK2):c.773-7C>T
|
|
|
|
NM_033118.4(MYLK2):c.792G>C (p.Pro264=)
|
rs752288788
|
|
|
NM_033118.4(MYLK2):c.828C>G (p.Thr276=)
|
rs370429139
|
|
|
NM_033118.4(MYLK2):c.831G>A (p.Gly277=)
|
|
|
|
NM_033118.4(MYLK2):c.852T>C (p.Ser284=)
|
rs2123130573
|
|
|
NM_033118.4(MYLK2):c.927C>T (p.Leu309=)
|
|
|
|
NM_033118.4(MYLK2):c.957G>A (p.Gln319=)
|
rs2123131710
|
|
|
NM_033118.4(MYLK2):c.963C>T (p.Pro321=)
|
rs756032622
|
|
|
NM_033118.4(MYLK2):c.972+14G>C
|
rs193922713
|
|
|
NM_033118.4(MYLK2):c.973-13C>T
|
rs750724227
|
|
|
NM_033118.4(MYLK2):c.973-4C>T
|
|
|
|
NM_033118.4(MYLK2):c.981G>C (p.Val327=)
|
|
|
|
NM_144573.4(NEXN):c.1089A>C (p.Thr363=)
|
rs878855209
|
|
|
NM_144573.4(NEXN):c.1137A>G (p.Glu379=)
|
rs1553240026
|
|
|
NM_144573.4(NEXN):c.1140A>G (p.Glu380=)
|
|
|
|
NM_144573.4(NEXN):c.1144T>C (p.Leu382=)
|
|
|
|
NM_144573.4(NEXN):c.1179A>C (p.Thr393=)
|
rs1650467406
|
|
|
NM_144573.4(NEXN):c.1182G>A (p.Glu394=)
|
|
|
|
NM_144573.4(NEXN):c.1200G>A (p.Lys400=)
|
|
|
|
NM_144573.4(NEXN):c.1231C>T (p.Leu411=)
|
|
|
|
NM_144573.4(NEXN):c.1252-12T>A
|
rs1400355724
|
|
|
NM_144573.4(NEXN):c.1252-14_1252-11del
|
rs935328552
|
|
|
NM_144573.4(NEXN):c.1252-19_1252-18del
|
|
|
|
NM_144573.4(NEXN):c.1252-6T>C
|
rs1571156994
|
|
|
NM_144573.4(NEXN):c.1257G>A (p.Glu419=)
|
rs1557990801
|
|
|
NM_144573.4(NEXN):c.133A>C (p.Arg45=)
|
rs2102092028
|
|
|
NM_144573.4(NEXN):c.1368A>G (p.Gly456=)
|
rs397517845
|
|
|
NM_144573.4(NEXN):c.1372T>C (p.Leu458=)
|
rs1356476468
|
|
|
NM_144573.4(NEXN):c.1377T>A (p.Ser459=)
|
rs2102155734
|
|
|
NM_144573.4(NEXN):c.1383A>G (p.Lys461=)
|
|
|
|
NM_144573.4(NEXN):c.1411C>A (p.Arg471=)
|
|
|
|
NM_144573.4(NEXN):c.1437T>G (p.Leu479=)
|
rs2102156211
|
|
|
NM_144573.4(NEXN):c.1473+15del
|
|
|
|
NM_144573.4(NEXN):c.1473+7dup
|
|
|
|
NM_144573.4(NEXN):c.1474-18T>C
|
|
|
|
NM_144573.4(NEXN):c.1509C>T (p.Ser503=)
|
|
|
|
NM_144573.4(NEXN):c.1533G>T (p.Val511=)
|
rs765353395
|
|
|
NM_144573.4(NEXN):c.15C>T (p.Ser5=)
|
|
|
|
NM_144573.4(NEXN):c.1638A>G (p.Glu546=)
|
|
|
|
NM_144573.4(NEXN):c.1659+8G>A
|
|
|
|
NM_144573.4(NEXN):c.1659+9C>T
|
|
|
|
NM_144573.4(NEXN):c.1660-11_1660-7del
|
rs727503344
|
|
|
NM_144573.4(NEXN):c.1660-16A>C
|
|
|
|
NM_144573.4(NEXN):c.1671GGA[2] (p.Glu561_Glu562del)
|
rs397517848
|
|
|
NM_144573.4(NEXN):c.1674G>A (p.Glu558=)
|
rs937473668
|
|
|
NM_144573.4(NEXN):c.1752C>T (p.Phe584=)
|
|
|
|
NM_144573.4(NEXN):c.1779T>G (p.Val593=)
|
|
|
|
NM_144573.4(NEXN):c.1794A>G (p.Pro598=)
|
rs1651468941
|
|
|
NM_144573.4(NEXN):c.1839T>C (p.Ile613=)
|
|
|
|
NM_144573.4(NEXN):c.1921T>C (p.Leu641=)
|
rs1321925816
|
|
|
NM_144573.4(NEXN):c.1950A>G (p.Gly650=)
|
rs2102182136
|
|
|
NM_144573.4(NEXN):c.195A>G (p.Arg65=)
|
rs2102092422
|
|
|
NM_144573.4(NEXN):c.220-13_220-10del
|
rs751831143
|
|
|
NM_144573.4(NEXN):c.220-17T>C
|
|
|
|
NM_144573.4(NEXN):c.220-19_220-16del
|
rs780428399
|
|
|
NM_144573.4(NEXN):c.27+7C>T
|
rs2102087424
|
|
|
NM_144573.4(NEXN):c.28-12C>A
|
|
|
|
NM_144573.4(NEXN):c.298+9C>T
|
|
|
|
NM_144573.4(NEXN):c.321T>A (p.Ala107=)
|
rs1553236762
|
|
|
NM_144573.4(NEXN):c.345G>A (p.Glu115=)
|
|
|
|
NM_144573.4(NEXN):c.352A>C (p.Arg118=)
|
rs2102094430
|
|
|
NM_144573.4(NEXN):c.378A>G (p.Lys126=)
|
|
|
|
NM_144573.4(NEXN):c.381C>A (p.Arg127=)
|
rs2102094631
|
|
|
NM_144573.4(NEXN):c.408G>A (p.Lys136=)
|
rs2102094793
|
|
|
NM_144573.4(NEXN):c.447+11A>T
|
|
|
|
NM_144573.4(NEXN):c.490-14A>G
|
|
|
|
NM_144573.4(NEXN):c.490-15T>A
|
|
|
|
NM_144573.4(NEXN):c.490-21_490-18del
|
rs775189174
|
|
|
NM_144573.4(NEXN):c.522A>C (p.Val174=)
|
|
|
|
NM_144573.4(NEXN):c.591A>G (p.Glu197=)
|
rs2102123700
|
|
|
NM_144573.4(NEXN):c.612C>T (p.Tyr204=)
|
|
|
|
NM_144573.4(NEXN):c.651A>G (p.Pro217=)
|
|
|
|
NM_144573.4(NEXN):c.666A>G (p.Ala222=)
|
|
|
|
NM_144573.4(NEXN):c.732C>T (p.Pro244=)
|
rs201171783
|
|
|
NM_144573.4(NEXN):c.789G>A (p.Lys263=)
|
|
|
|
NM_144573.4(NEXN):c.855G>A (p.Arg285=)
|
rs753748512
|
|
|
NM_144573.4(NEXN):c.864+11A>G
|
|
|
|
NM_144573.4(NEXN):c.930C>T (p.Leu310=)
|
|
|
|
NM_144573.4(NEXN):c.972T>C (p.Asp324=)
|
|
|
|
NM_145046.5(CALR3):c.1002C>T (p.Gly334=)
|
|
|
|
NM_145046.5(CALR3):c.1011+11C>T
|
|
|
|
NM_145046.5(CALR3):c.1011+12G>T
|
rs777158814
|
|
|
NM_145046.5(CALR3):c.1011+16T>A
|
|
|
|
NM_145046.5(CALR3):c.1012-10_1012-9del
|
rs1358738890
|
|
|
NM_145046.5(CALR3):c.1068C>T (p.Arg356=)
|
|
|
|
NM_145046.5(CALR3):c.1095G>A (p.Ser365=)
|
rs200844516
|
|
|
NM_145046.5(CALR3):c.1095G>C (p.Ser365=)
|
rs200844516
|
|
|
NM_145046.5(CALR3):c.1104T>A (p.Ile368=)
|
rs1555775535
|
|
|
NM_145046.5(CALR3):c.1113C>T (p.His371=)
|
|
|
|
NM_145046.5(CALR3):c.1114G>C (p.Glu372Gln)
|
rs140440387
|
|
|
NM_145046.5(CALR3):c.1152T>G (p.Leu384=)
|
rs1443146127
|
|
|
NM_145046.5(CALR3):c.129C>T (p.Asp43=)
|
rs1599723855
|
|
|
NM_145046.5(CALR3):c.193+15A>G
|
|
|
|
NM_145046.5(CALR3):c.193+15_193+16del
|
|
|
|
NM_145046.5(CALR3):c.194-14T>A
|
|
|
|
NM_145046.5(CALR3):c.195T>C (p.Gly65=)
|
rs1599721013
|
|
|
NM_145046.5(CALR3):c.273G>A (p.Leu91=)
|
rs759314483
|
|
|
NM_145046.5(CALR3):c.30C>T (p.Ala10=)
|
|
|
|
NM_145046.5(CALR3):c.345A>G (p.Ala115=)
|
rs2122142658
|
|
|
NM_145046.5(CALR3):c.387T>C (p.Tyr129=)
|
rs2122142562
|
|
|
NM_145046.5(CALR3):c.397+11G>A
|
|
|
|
NM_145046.5(CALR3):c.397+13G>A
|
|
|
|
NM_145046.5(CALR3):c.397+7T>A
|
|
|
|
NM_145046.5(CALR3):c.398-15T>A
|
|
|
|
NM_145046.5(CALR3):c.398-20G>A
|
|
|
|
NM_145046.5(CALR3):c.516C>T (p.Tyr172=)
|
|
|
|
NM_145046.5(CALR3):c.579C>T (p.Ser193=)
|
|
|
|
NM_145046.5(CALR3):c.604T>C (p.Leu202=)
|
|
|
|
NM_145046.5(CALR3):c.63C>G (p.Val21=)
|
rs1163504118
|
|
|
NM_145046.5(CALR3):c.690G>A (p.Lys230=)
|
|
|
|
NM_145046.5(CALR3):c.6C>G (p.Ala2=)
|
|
|
|
NM_145046.5(CALR3):c.738C>T (p.Asp246=)
|
rs780488544
|
|
|
NM_145046.5(CALR3):c.741G>C (p.Leu247=)
|
rs1188902703
|
|
|
NM_145046.5(CALR3):c.777C>A (p.Pro259=)
|
rs143252466
|
|
|
NM_145046.5(CALR3):c.780G>T (p.Pro260=)
|
rs775009764
|
|
|
NM_145046.5(CALR3):c.786+14_786+15del
|
|
|
|
NM_145046.5(CALR3):c.787-8del
|
rs1267486642
|
|
|
NM_145046.5(CALR3):c.816A>G (p.Lys272=)
|
rs2122128398
|
|
|
NM_145046.5(CALR3):c.891T>C (p.Ile297=)
|
|
|
|
NM_145046.5(CALR3):c.91+15C>T
|
|
|
|
NM_145046.5(CALR3):c.960T>C (p.Asp320=)
|
|
|
|
NM_145046.5(CALR3):c.969G>A (p.Glu323=)
|
|
|
|
NM_152594.3(SPRED1):c.1008A>G (p.Val336=)
|
rs1555392775
|
|
|
NM_152594.3(SPRED1):c.1011C>T (p.Tyr337=)
|
|
|
|
NM_152594.3(SPRED1):c.102T>C (p.Leu34=)
|
rs2140978435
|
|
|
NM_152594.3(SPRED1):c.1065T>C (p.Ala355=)
|
|
|
|
NM_152594.3(SPRED1):c.1110C>G (p.Leu370=)
|
rs876657584
|
|
|
NM_152594.3(SPRED1):c.1110C>T (p.Leu370=)
|
|
|
|
NM_152594.3(SPRED1):c.1143A>C (p.Ser381=)
|
|
|
|
NM_152594.3(SPRED1):c.1158T>C (p.Asp386=)
|
rs2141016567
|
|
|
NM_152594.3(SPRED1):c.1170C>G (p.Pro390=)
|
|
|
|
NM_152594.3(SPRED1):c.1170C>T (p.Pro390=)
|
|
|
|
NM_152594.3(SPRED1):c.117A>G (p.Leu39=)
|
|
|
|
NM_152594.3(SPRED1):c.1185T>C (p.Thr395=)
|
|
|
|
NM_152594.3(SPRED1):c.1185T>G (p.Thr395=)
|
|
|
|
NM_152594.3(SPRED1):c.1188C>T (p.Ser396=)
|
|
|
|
NM_152594.3(SPRED1):c.1194C>T (p.Asp398=)
|
rs2141016629
|
|
|
NM_152594.3(SPRED1):c.1200C>T (p.Phe400=)
|
rs2141016638
|
|
|
NM_152594.3(SPRED1):c.1203C>T (p.Cys401=)
|
|
|
|
NM_152594.3(SPRED1):c.1206G>A (p.Leu402=)
|
|
|
|
NM_152594.3(SPRED1):c.1215A>G (p.Leu405=)
|
rs1595764001
|
|
|
NM_152594.3(SPRED1):c.1224A>G (p.Val408=)
|
rs1888489718
|
|
|
NM_152594.3(SPRED1):c.1245A>G (p.Pro415=)
|
|
|
|
NM_152594.3(SPRED1):c.1254C>T (p.Cys418=)
|
rs2141016717
|
|
|
NM_152594.3(SPRED1):c.1296A>G (p.Ala432=)
|
rs2141016767
|
|
|
NM_152594.3(SPRED1):c.1317A>G (p.Lys439=)
|
|
|
|
NM_152594.3(SPRED1):c.1329T>A (p.Ala443=)
|
|
|
|
NM_152594.3(SPRED1):c.159T>C (p.Asn53=)
|
|
|
|
NM_152594.3(SPRED1):c.174T>C (p.Phe58=)
|
rs1595733589
|
|
|
NM_152594.3(SPRED1):c.207+10A>G
|
rs918390069
|
|
|
NM_152594.3(SPRED1):c.207+12T>C
|
|
|
|
NM_152594.3(SPRED1):c.207+16T>G
|
rs1322998447
|
|
|
NM_152594.3(SPRED1):c.208-10C>G
|
rs1353650192
|
|
|
NM_152594.3(SPRED1):c.208-11G>A
|
|
|
|
NM_152594.3(SPRED1):c.208-12G>C
|
|
|
|
NM_152594.3(SPRED1):c.21T>A (p.Thr7=)
|
|
|
|
NM_152594.3(SPRED1):c.228T>A (p.Leu76=)
|
rs763749955
|
|
|
NM_152594.3(SPRED1):c.279G>A (p.Lys93=)
|
rs778384985
|
|
|
NM_152594.3(SPRED1):c.288C>T (p.Asp96=)
|
|
|
|
NM_152594.3(SPRED1):c.290_291delinsGA (p.Lys97Arg)
|
rs1555391042
|
|
|
NM_152594.3(SPRED1):c.300T>C (p.Gly100=)
|
|
|
|
NM_152594.3(SPRED1):c.32+12A>G
|
|
|
|
NM_152594.3(SPRED1):c.32+14T>C
|
rs2140943483
|
|
|
NM_152594.3(SPRED1):c.32+18C>G
|
|
|
|
NM_152594.3(SPRED1):c.32+18C>T
|
|
|
|
NM_152594.3(SPRED1):c.32+3_32+6dup
|
|
|
|
NM_152594.3(SPRED1):c.32+9C>T
|
|
|
|
NM_152594.3(SPRED1):c.33-14T>C
|
|
|
|
NM_152594.3(SPRED1):c.363G>A (p.Glu121=)
|
|
|
|
NM_152594.3(SPRED1):c.376+10C>A
|
rs2140994968
|
|
|
NM_152594.3(SPRED1):c.376+17A>G
|
|
|
|
NM_152594.3(SPRED1):c.376+19T>G
|
|
|
|
NM_152594.3(SPRED1):c.376+9T>G
|
rs1555391063
|
|
|
NM_152594.3(SPRED1):c.377-12C>T
|
|
|
|
NM_152594.3(SPRED1):c.377-16T>G
|
|
|
|
NM_152594.3(SPRED1):c.402T>C (p.Ala134=)
|
rs1341388240
|
|
|
NM_152594.3(SPRED1):c.408G>T (p.Gly136=)
|
|
|
|
NM_152594.3(SPRED1):c.423+10G>T
|
|
|
|
NM_152594.3(SPRED1):c.423+11G>A
|
|
|
|
NM_152594.3(SPRED1):c.423+17A>G
|
rs1263567092
|
|
|
NM_152594.3(SPRED1):c.423+19G>A
|
|
|
|
NM_152594.3(SPRED1):c.423+20G>A
|
|
|
|
NM_152594.3(SPRED1):c.423+8A>G
|
rs2140996685
|
|
|
NM_152594.3(SPRED1):c.424-19T>C
|
|
|
|
NM_152594.3(SPRED1):c.424-19T>G
|
|
|
|
NM_152594.3(SPRED1):c.435G>A (p.Glu145=)
|
|
|
|
NM_152594.3(SPRED1):c.444C>G (p.Ser148=)
|
|
|
|
NM_152594.3(SPRED1):c.459G>A (p.Lys153=)
|
rs1318587614
|
|
|
NM_152594.3(SPRED1):c.486T>G (p.Val162=)
|
rs2141007825
|
|
|
NM_152594.3(SPRED1):c.510C>T (p.Ser170=)
|
rs771673657
|
|
|
NM_152594.3(SPRED1):c.51G>A (p.Val17=)
|
rs864622421
|
|
|
NM_152594.3(SPRED1):c.52C>A (p.Arg18=)
|
|
|
|
NM_152594.3(SPRED1):c.531C>G (p.Pro177=)
|
|
|
|
NM_152594.3(SPRED1):c.531C>T (p.Pro177=)
|
rs1595756882
|
|
|
NM_152594.3(SPRED1):c.546T>C (p.Asn182=)
|
|
|
|
NM_152594.3(SPRED1):c.549C>T (p.Ala183=)
|
|
|
|
NM_152594.3(SPRED1):c.552A>G (p.Arg184=)
|
rs2141007956
|
|
|
NM_152594.3(SPRED1):c.570C>T (p.Ser190=)
|
|
|
|
NM_152594.3(SPRED1):c.576C>T (p.Ala192=)
|
|
|
|
NM_152594.3(SPRED1):c.582+17T>A
|
|
|
|
NM_152594.3(SPRED1):c.582+18T>C
|
|
|
|
NM_152594.3(SPRED1):c.583-15T>C
|
|
|
|
NM_152594.3(SPRED1):c.583-18A>C
|
rs2141014785
|
|
|
NM_152594.3(SPRED1):c.583-8T>C
|
|
|
|
NM_152594.3(SPRED1):c.588A>T (p.Thr196=)
|
|
|
|
NM_152594.3(SPRED1):c.60G>A (p.Val20=)
|
|
|
|
NM_152594.3(SPRED1):c.619A>C (p.Arg207=)
|
|
|
|
NM_152594.3(SPRED1):c.669A>G (p.Leu223=)
|
rs774530752
|
|
|
NM_152594.3(SPRED1):c.684+10G>A
|
rs1555392611
|
|
|
NM_152594.3(SPRED1):c.684+13A>G
|
|
|
|
NM_152594.3(SPRED1):c.685-13G>A
|
|
|
|
NM_152594.3(SPRED1):c.685-15_685-14del
|
rs566051898
|
|
|
NM_152594.3(SPRED1):c.685-17A>T
|
|
|
|
NM_152594.3(SPRED1):c.687C>T (p.Val229=)
|
rs376226762
|
|
|
NM_152594.3(SPRED1):c.69C>T (p.Thr23=)
|
|
|
|
NM_152594.3(SPRED1):c.751C>A (p.Arg251=)
|
rs1172820756
|
|
|
NM_152594.3(SPRED1):c.753A>T (p.Arg251=)
|
|
|
|
NM_152594.3(SPRED1):c.777A>T (p.Ala259=)
|
|
|
|
NM_152594.3(SPRED1):c.843G>A (p.Gln281=)
|
rs1373204659
|
|
|
NM_152594.3(SPRED1):c.852A>G (p.Lys284=)
|
|
|
|
NM_152594.3(SPRED1):c.861T>C (p.Ser287=)
|
|
|
|
NM_152594.3(SPRED1):c.879G>C (p.Leu293=)
|
|
|
|
NM_152594.3(SPRED1):c.885T>C (p.Ser295=)
|
|
|
|
NM_152594.3(SPRED1):c.888T>C (p.Cys296=)
|
|
|
|
NM_152594.3(SPRED1):c.90A>C (p.Gly30=)
|
|
|
|
NM_152594.3(SPRED1):c.912A>G (p.Ser304=)
|
rs2141016283
|
|
|
NM_152594.3(SPRED1):c.915C>G (p.Pro305=)
|
rs2141016292
|
|
|
NM_152594.3(SPRED1):c.939G>T (p.Thr313=)
|
rs140644874
|
|
|
NM_152594.3(SPRED1):c.948C>G (p.Ser316=)
|
rs1595763720
|
|
|
NM_152594.3(SPRED1):c.999T>C (p.Ser333=)
|
|
|
|
NM_152594.3(SPRED1):c.9G>A (p.Glu3=)
|
rs1429162267
|
|
|
NM_181703.4(GJA5):c.1023G>A (p.Lys341=)
|
rs145008952
|
|
|
NM_181703.4(GJA5):c.105C>T (p.Leu35=)
|
|
|
|
NM_181703.4(GJA5):c.1071A>T (p.Ser357=)
|
rs1553226734
|
|
|
NM_181703.4(GJA5):c.117A>G (p.Thr39=)
|
rs2148959468
|
|
|
NM_181703.4(GJA5):c.123T>A (p.Ala41=)
|
rs2148959454
|
|
|
NM_181703.4(GJA5):c.138G>A (p.Gly46=)
|
rs984101534
|
|
|
NM_181703.4(GJA5):c.138G>C (p.Gly46=)
|
|
|
|
NM_181703.4(GJA5):c.213C>T (p.Pro71=)
|
|
|
|
NM_181703.4(GJA5):c.255C>A (p.Val85=)
|
|
|
|
NM_181703.4(GJA5):c.261G>A (p.Thr87=)
|
|
|
|
NM_181703.4(GJA5):c.268C>T (p.Leu90=)
|
|
|
|
NM_181703.4(GJA5):c.297T>G (p.Thr99=)
|
rs146738543
|
|
|
NM_181703.4(GJA5):c.30C>T (p.Phe10=)
|
|
|
|
NM_181703.4(GJA5):c.327G>A (p.Arg109=)
|
rs143695986
|
|
|
NM_181703.4(GJA5):c.351C>T (p.Val117=)
|
|
|
|
NM_181703.4(GJA5):c.381G>A (p.Val127=)
|
|
|
|
NM_181703.4(GJA5):c.399G>T (p.Leu133=)
|
|
|
|
NM_181703.4(GJA5):c.414A>G (p.Glu138=)
|
|
|
|
NM_181703.4(GJA5):c.432C>A (p.Ala144=)
|
|
|
|
NM_181703.4(GJA5):c.435C>T (p.Leu145=)
|
|
|
|
NM_181703.4(GJA5):c.438G>A (p.Gln146=)
|
rs1553226989
|
|
|
NM_181703.4(GJA5):c.445C>T (p.Leu149=)
|
|
|
|
NM_181703.4(GJA5):c.447G>C (p.Leu149=)
|
rs782002899
|
|
|
NM_181703.4(GJA5):c.450C>T (p.Leu150=)
|
|
|
|
NM_181703.4(GJA5):c.510C>A (p.Gly170=)
|
|
|
|
NM_181703.4(GJA5):c.513G>A (p.Gln171=)
|
rs1571066735
|
|
|
NM_181703.4(GJA5):c.525C>T (p.Tyr175=)
|
|
|
|
NM_181703.4(GJA5):c.537G>C (p.Leu179=)
|
rs2148959118
|
|
|
NM_181703.4(GJA5):c.543C>T (p.Thr181=)
|
rs1553226953
|
|
|
NM_181703.4(GJA5):c.544C>T (p.Leu182=)
|
rs1553226951
|
|
|
NM_181703.4(GJA5):c.559A>C (p.Arg187=)
|
|
|
|
NM_181703.4(GJA5):c.567C>G (p.Pro189=)
|
rs2148959089
|
|
|
NM_181703.4(GJA5):c.576C>T (p.His192=)
|
|
|
|
NM_181703.4(GJA5):c.57C>G (p.Thr19=)
|
|
|
|
NM_181703.4(GJA5):c.591C>T (p.Tyr197=)
|
|
|
|
NM_181703.4(GJA5):c.618C>G (p.Val206=)
|
rs2148959048
|
|
|
NM_181703.4(GJA5):c.645T>A (p.Ala215=)
|
|
|
|
NM_181703.4(GJA5):c.685C>T (p.Leu229=)
|
|
|
|
NM_181703.4(GJA5):c.738T>C (p.Ala246=)
|
rs2148958978
|
|
|
NM_181703.4(GJA5):c.756C>A (p.Gly252=)
|
|
|
|
NM_181703.4(GJA5):c.765G>C (p.Val255=)
|
rs2148958937
|
|
|
NM_181703.4(GJA5):c.780C>T (p.Ser260=)
|
rs1663834363
|
|
|
NM_181703.4(GJA5):c.789A>G (p.Pro263=)
|
|
|
|
NM_181703.4(GJA5):c.795C>T (p.Pro265=)
|
|
|
|
NM_181703.4(GJA5):c.813G>A (p.Leu271=)
|
rs2148958892
|
|
|
NM_181703.4(GJA5):c.81T>C (p.Thr27=)
|
|
|
|
NM_181703.4(GJA5):c.843T>C (p.Asn281=)
|
|
|
|
NM_181703.4(GJA5):c.870A>G (p.Gln290=)
|
|
|
|
NM_181703.4(GJA5):c.891C>T (p.Val297=)
|
|
|
|
NM_181703.4(GJA5):c.903A>G (p.Val301=)
|
rs2148958793
|
|
|
NM_181703.4(GJA5):c.945T>A (p.Val315=)
|
rs2148958748
|
|
|
NM_181703.4(GJA5):c.948T>A (p.Arg316=)
|
|
|
|
NM_181703.4(GJA5):c.963T>G (p.Pro321=)
|
|
|
|
NM_181703.4(GJA5):c.978A>C (p.Gly326=)
|
|
|
|
NM_182914.3(SYNE2):c.10065A>G (p.Glu3355=)
|
|
|
|
NM_182914.3(SYNE2):c.10067+13C>T
|
|
|
|
NM_182914.3(SYNE2):c.10068-19T>C
|
|
|
|
NM_182914.3(SYNE2):c.10116C>T (p.Tyr3372=)
|
rs757890554
|
|
|
NM_182914.3(SYNE2):c.1011G>A (p.Glu337=)
|
|
|
|
NM_182914.3(SYNE2):c.10140A>G (p.Thr3380=)
|
|
|
|
NM_182914.3(SYNE2):c.10194G>A (p.Glu3398=)
|
|
|
|
NM_182914.3(SYNE2):c.10212+20G>A
|
rs200261434
|
|
|
NM_182914.3(SYNE2):c.10329G>A (p.Val3443=)
|
rs773990537
|
|
|
NM_182914.3(SYNE2):c.1032G>A (p.Lys344=)
|
|
|
|
NM_182914.3(SYNE2):c.10401G>A (p.Leu3467=)
|
|
|
|
NM_182914.3(SYNE2):c.10431+11C>T
|
|
|
|
NM_182914.3(SYNE2):c.10431+12A>G
|
rs2097353282
|
|
|
NM_182914.3(SYNE2):c.10431+19A>G
|
|
|
|
NM_182914.3(SYNE2):c.10432-7G>C
|
|
|
|
NM_182914.3(SYNE2):c.10432-7G>T
|
rs749169072
|
|
|
NM_182914.3(SYNE2):c.10515G>A (p.Glu3505=)
|
|
|
|
NM_182914.3(SYNE2):c.10560C>T (p.Asn3520=)
|
|
|
|
NM_182914.3(SYNE2):c.10638G>T (p.Gly3546=)
|
rs201834981
|
|
|
NM_182914.3(SYNE2):c.10686A>G (p.Glu3562=)
|
rs2153599710
|
|
|
NM_182914.3(SYNE2):c.10697+10A>T
|
|
|
|
NM_182914.3(SYNE2):c.10698-12G>A
|
|
|
|
NM_182914.3(SYNE2):c.10698-13C>T
|
|
|
|
NM_182914.3(SYNE2):c.10740T>C (p.Thr3580=)
|
|
|
|
NM_182914.3(SYNE2):c.10782T>G (p.Ala3594=)
|
rs1595337089
|
|
|
NM_182914.3(SYNE2):c.10866+14G>A
|
rs2153603601
|
|
|
NM_182914.3(SYNE2):c.10875A>G (p.Gln3625=)
|
|
|
|
NM_182914.3(SYNE2):c.10941C>T (p.Ser3647=)
|
|
|
|
NM_182914.3(SYNE2):c.11023-13G>C
|
|
|
|
NM_182914.3(SYNE2):c.11023-20C>T
|
|
|
|
NM_182914.3(SYNE2):c.11103T>C (p.Asn3701=)
|
rs369232223
|
|
|
NM_182914.3(SYNE2):c.11164-19T>G
|
|
|
|
NM_182914.3(SYNE2):c.1128+10T>C
|
rs2096415870
|
|
|
NM_182914.3(SYNE2):c.1128+19T>G
|
|
|
|
NM_182914.3(SYNE2):c.1129-5T>C
|
|
|
|
NM_182914.3(SYNE2):c.11325T>C (p.Cys3775=)
|
|
|
|
NM_182914.3(SYNE2):c.11346+12A>T
|
|
|
|
NM_182914.3(SYNE2):c.11346+16G>A
|
|
|
|
NM_182914.3(SYNE2):c.11347-14C>T
|
rs1208369187
|
|
|
NM_182914.3(SYNE2):c.11422C>T (p.Leu3808=)
|
rs2153612993
|
|
|
NM_182914.3(SYNE2):c.11478T>G (p.Thr3826=)
|
rs2153613027
|
|
|
NM_182914.3(SYNE2):c.11490T>C (p.Ala3830=)
|
rs2153622100
|
|
|
NM_182914.3(SYNE2):c.114G>T (p.Thr38=)
|
rs369020126
|
|
|
NM_182914.3(SYNE2):c.11550C>T (p.Asp3850=)
|
rs146261323
|
|
|
NM_182914.3(SYNE2):c.1158T>C (p.Tyr386=)
|
|
|
|
NM_182914.3(SYNE2):c.11671-15C>T
|
|
|
|
NM_182914.3(SYNE2):c.1167C>T (p.Pro389=)
|
|
|
|
NM_182914.3(SYNE2):c.11760T>C (p.Asp3920=)
|
|
|
|
NM_182914.3(SYNE2):c.11793+10G>A
|
|
|
|
NM_182914.3(SYNE2):c.11794-14C>T
|
|
|
|
NM_182914.3(SYNE2):c.11794-9A>G
|
|
|
|
NM_182914.3(SYNE2):c.11935C>T (p.Leu3979=)
|
rs76576553
|
|
|
NM_182914.3(SYNE2):c.11944A>G (p.Asn3982Asp)
|
rs10137972
|
|
|
NM_182914.3(SYNE2):c.11977-18G>A
|
|
|
|
NM_182914.3(SYNE2):c.11977-20T>C
|
|
|
|
NM_182914.3(SYNE2):c.12096G>A (p.Leu4032=)
|
|
|
|
NM_182914.3(SYNE2):c.12108+18A>G
|
|
|
|
NM_182914.3(SYNE2):c.12109-10_12109-7del
|
rs755277543
|
|
|
NM_182914.3(SYNE2):c.12117C>T (p.Ile4039=)
|
|
|
|
NM_182914.3(SYNE2):c.12186C>T (p.Ala4062=)
|
rs1037442946
|
|
|
NM_182914.3(SYNE2):c.12306+12T>G
|
|
|
|
NM_182914.3(SYNE2):c.12307-11G>A
|
|
|
|
NM_182914.3(SYNE2):c.12307-13C>T
|
|
|
|
NM_182914.3(SYNE2):c.12307-16G>C
|
|
|
|
NM_182914.3(SYNE2):c.1230G>A (p.Leu410=)
|
|
|
|
NM_182914.3(SYNE2):c.12369C>T (p.Ser4123=)
|
|
|
|
NM_182914.3(SYNE2):c.12381+18C>G
|
rs770009960
|
|
|
NM_182914.3(SYNE2):c.12382-14G>A
|
|
|
|
NM_182914.3(SYNE2):c.12382-4del
|
|
|
|
NM_182914.3(SYNE2):c.12492+13G>A
|
|
|
|
NM_182914.3(SYNE2):c.12492+13_12492+14dup
|
|
|
|
NM_182914.3(SYNE2):c.12492+9G>A
|
rs765088214
|
|
|
NM_182914.3(SYNE2):c.12501T>C (p.Tyr4167=)
|
|
|
|
NM_182914.3(SYNE2):c.12603A>G (p.Thr4201=)
|
rs1324146518
|
|
|
NM_182914.3(SYNE2):c.12609+14G>A
|
|
|
|
NM_182914.3(SYNE2):c.12610-15T>C
|
|
|
|
NM_182914.3(SYNE2):c.12610-4T>G
|
rs1265912294
|
|
|
NM_182914.3(SYNE2):c.12639T>G (p.Thr4213=)
|
rs908687663
|
|
|
NM_182914.3(SYNE2):c.12654C>T (p.Asp4218=)
|
|
|
|
NM_182914.3(SYNE2):c.12754C>T (p.Leu4252=)
|
|
|
|
NM_182914.3(SYNE2):c.12759A>G (p.Gln4253=)
|
|
|
|
NM_182914.3(SYNE2):c.12849A>T (p.Leu4283=)
|
|
|
|
NM_182914.3(SYNE2):c.12873C>G (p.Ala4291=)
|
|
|
|
NM_182914.3(SYNE2):c.1293+18A>G
|
|
|
|
NM_182914.3(SYNE2):c.1294-15T>C
|
|
|
|
NM_182914.3(SYNE2):c.1294-17G>A
|
|
|
|
NM_182914.3(SYNE2):c.1294-18T>C
|
|
|
|
NM_182914.3(SYNE2):c.12966G>A (p.Val4322=)
|
|
|
|
NM_182914.3(SYNE2):c.129A>T (p.Ser43=)
|
|
|
|
NM_182914.3(SYNE2):c.13023+11_13023+12insTC
|
|
|
|
NM_182914.3(SYNE2):c.13023+12C>T
|
|
|
|
NM_182914.3(SYNE2):c.13024-17T>C
|
|
|
|
NM_182914.3(SYNE2):c.13044A>G (p.Lys4348=)
|
rs2153665812
|
|
|
NM_182914.3(SYNE2):c.13056A>G (p.Pro4352=)
|
rs1595663147
|
|
|
NM_182914.3(SYNE2):c.13107T>C (p.Ile4369=)
|
|
|
|
NM_182914.3(SYNE2):c.13113T>C (p.Thr4371=)
|
rs2153665864
|
|
|
NM_182914.3(SYNE2):c.13122A>G (p.Pro4374=)
|
|
|
|
NM_182914.3(SYNE2):c.13125A>G (p.Gln4375=)
|
|
|
|
NM_182914.3(SYNE2):c.1320T>C (p.His440=)
|
|
|
|
NM_182914.3(SYNE2):c.13263T>G (p.Thr4421=)
|
rs1362104612
|
|
|
NM_182914.3(SYNE2):c.13280+20_13280+21del
|
|
|
|
NM_182914.3(SYNE2):c.13326G>A (p.Leu4442=)
|
|
|
|
NM_182914.3(SYNE2):c.13422+10T>C
|
|
|
|
NM_182914.3(SYNE2):c.13422+7C>A
|
|
|
|
NM_182914.3(SYNE2):c.13425T>A (p.Val4475=)
|
|
|
|
NM_182914.3(SYNE2):c.13554+16A>G
|
|
|
|
NM_182914.3(SYNE2):c.13554+18T>C
|
|
|
|
NM_182914.3(SYNE2):c.13555-12C>G
|
rs1175752590
|
|
|
NM_182914.3(SYNE2):c.13566A>G (p.Thr4522=)
|
|
|
|
NM_182914.3(SYNE2):c.13575A>G (p.Ala4525=)
|
|
|
|
NM_182914.3(SYNE2):c.13614G>T (p.Leu4538=)
|
|
|
|
NM_182914.3(SYNE2):c.13644G>A (p.Glu4548=)
|
|
|
|
NM_182914.3(SYNE2):c.13649T>C (p.Met4550Thr)
|
|
|
|
NM_182914.3(SYNE2):c.13683T>A (p.Gly4561=)
|
rs1342620395
|
|
|
NM_182914.3(SYNE2):c.13704C>T (p.Tyr4568=)
|
|
|
|
NM_182914.3(SYNE2):c.13707+10T>G
|
rs61987277
|
|
|
NM_182914.3(SYNE2):c.13707+16C>T
|
|
|
|
NM_182914.3(SYNE2):c.13707+19G>A
|
|
|
|
NM_182914.3(SYNE2):c.13708-13C>G
|
rs146315545
|
|
|
NM_182914.3(SYNE2):c.13708-14C>T
|
|
|
|
NM_182914.3(SYNE2):c.1377A>G (p.Pro459=)
|
|
|
|
NM_182914.3(SYNE2):c.13845G>A (p.Glu4615=)
|
|
|
|
NM_182914.3(SYNE2):c.13887A>G (p.Lys4629=)
|
|
|
|
NM_182914.3(SYNE2):c.13896C>T (p.Leu4632=)
|
rs766703027
|
|
|
NM_182914.3(SYNE2):c.13917+11G>A
|
|
|
|
NM_182914.3(SYNE2):c.13918-2A>G
|
|
|
|
NM_182914.3(SYNE2):c.13918-8T>C
|
rs2153675582
|
|
|
NM_182914.3(SYNE2):c.13947C>T (p.Leu4649=)
|
|
|
|
NM_182914.3(SYNE2):c.14019+11C>G
|
|
|
|
NM_182914.3(SYNE2):c.14031A>G (p.Ala4677=)
|
|
|
|
NM_182914.3(SYNE2):c.1406+15C>T
|
|
|
|
NM_182914.3(SYNE2):c.14061C>T (p.Ser4687=)
|
|
|
|
NM_182914.3(SYNE2):c.1407-13C>T
|
|
|
|
NM_182914.3(SYNE2):c.14074C>T (p.Leu4692=)
|
|
|
|
NM_182914.3(SYNE2):c.141+12A>C
|
|
|
|
NM_182914.3(SYNE2):c.141+18A>G
|
|
|
|
NM_182914.3(SYNE2):c.14112T>G (p.Ala4704=)
|
rs1595719768
|
|
|
NM_182914.3(SYNE2):c.14121G>A (p.Gln4707=)
|
|
|
|
NM_182914.3(SYNE2):c.14133A>G (p.Lys4711=)
|
|
|
|
NM_182914.3(SYNE2):c.14139+20A>G
|
rs1185932205
|
|
|
NM_182914.3(SYNE2):c.14153G>C (p.Ser4718Thr)
|
rs374716181
|
|
|
NM_182914.3(SYNE2):c.14190C>T (p.Leu4730=)
|
|
|
|
NM_182914.3(SYNE2):c.14202C>T (p.Phe4734=)
|
|
|
|
NM_182914.3(SYNE2):c.14259T>C (p.Ile4753=)
|
|
|
|
NM_182914.3(SYNE2):c.14340+12A>G
|
|
|
|
NM_182914.3(SYNE2):c.14340+13C>A
|
|
|
|
NM_182914.3(SYNE2):c.14340+7C>G
|
|
|
|
NM_182914.3(SYNE2):c.14341-11C>A
|
rs369669657
|
|
|
NM_182914.3(SYNE2):c.14341-13C>G
|
rs2153681733
|
|
|
NM_182914.3(SYNE2):c.14341-16T>C
|
|
|
|
NM_182914.3(SYNE2):c.14496G>A (p.Lys4832=)
|
|
|
|
NM_182914.3(SYNE2):c.14514+19C>T
|
|
|
|
NM_182914.3(SYNE2):c.14514+20G>C
|
|
|
|
NM_182914.3(SYNE2):c.14596T>C (p.Leu4866=)
|
|
|
|
NM_182914.3(SYNE2):c.14598G>A (p.Leu4866=)
|
|
|
|
NM_182914.3(SYNE2):c.14601G>A (p.Val4867=)
|
rs1595748002
|
|
|
NM_182914.3(SYNE2):c.14637A>C (p.Ser4879=)
|
|
|
|
NM_182914.3(SYNE2):c.14646+20G>T
|
|
|
|
NM_182914.3(SYNE2):c.14655A>G (p.Lys4885=)
|
rs1595771604
|
|
|
NM_182914.3(SYNE2):c.14667T>C (p.Gly4889=)
|
rs576736744
|
|
|
NM_182914.3(SYNE2):c.14676C>T (p.His4892=)
|
rs375987275
|
|
|
NM_182914.3(SYNE2):c.147T>C (p.Thr49=)
|
|
|
|
NM_182914.3(SYNE2):c.14832G>A (p.Lys4944=)
|
rs1419168476
|
|
|
NM_182914.3(SYNE2):c.14843+13G>C
|
|
|
|
NM_182914.3(SYNE2):c.14844-5G>A
|
rs17825431
|
|
|
NM_182914.3(SYNE2):c.14847T>C (p.Tyr4949=)
|
rs779131429
|
|
|
NM_182914.3(SYNE2):c.14976+16A>G
|
|
|
|
NM_182914.3(SYNE2):c.14977-9C>G
|
|
|
|
NM_182914.3(SYNE2):c.15129A>G (p.Gln5043=)
|
|
|
|
NM_182914.3(SYNE2):c.15175T>C (p.Leu5059=)
|
|
|
|
NM_182914.3(SYNE2):c.15237T>A (p.Thr5079=)
|
rs754139822
|
|
|
NM_182914.3(SYNE2):c.15307-9T>G
|
|
|
|
NM_182914.3(SYNE2):c.15351C>T (p.Phe5117=)
|
rs569092674
|
|
|
NM_182914.3(SYNE2):c.1539A>G (p.Glu513=)
|
rs1596005871
|
|
|
NM_182914.3(SYNE2):c.15450G>A (p.Gln5150=)
|
|
|
|
NM_182914.3(SYNE2):c.15483+12C>T
|
|
|
|
NM_182914.3(SYNE2):c.15483+13G>A
|
rs369303929
|
|
|
NM_182914.3(SYNE2):c.15484-14_15484-13del
|
|
|
|
NM_182914.3(SYNE2):c.15495A>G (p.Leu5165=)
|
rs1555509783
|
|
|
NM_182914.3(SYNE2):c.15543C>A (p.Ile5181=)
|
|
|
|
NM_182914.3(SYNE2):c.15609C>T (p.Ile5203=)
|
|
|
|
NM_182914.3(SYNE2):c.15621G>A (p.Lys5207=)
|
|
|
|
NM_182914.3(SYNE2):c.15624G>T (p.Leu5208=)
|
rs371688900
|
|
|
NM_182914.3(SYNE2):c.15627C>T (p.Leu5209=)
|
|
|
|
NM_182914.3(SYNE2):c.15657T>G (p.Leu5219=)
|
|
|
|
NM_182914.3(SYNE2):c.1570-8C>T
|
|
|
|
NM_182914.3(SYNE2):c.15717G>A (p.Gly5239=)
|
rs770064129
|
|
|
NM_182914.3(SYNE2):c.15774A>G (p.Arg5258=)
|
rs1595869914
|
|
|
NM_182914.3(SYNE2):c.15786C>T (p.Leu5262=)
|
|
|
|
NM_182914.3(SYNE2):c.15792+16del
|
|
|
|
NM_182914.3(SYNE2):c.15918G>C (p.Val5306=)
|
rs767882664
|
|
|
NM_182914.3(SYNE2):c.15963+12A>G
|
|
|
|
NM_182914.3(SYNE2):c.15964-11G>C
|
|
|
|
NM_182914.3(SYNE2):c.15964-19T>G
|
|
|
|
NM_182914.3(SYNE2):c.15964-9_15964-8del
|
rs1205823094
|
|
|
NM_182914.3(SYNE2):c.15990T>C (p.Ser5330=)
|
|
|
|
NM_182914.3(SYNE2):c.15T>C (p.Pro5=)
|
rs2153351102
|
|
|
NM_182914.3(SYNE2):c.16095-12T>C
|
rs1461495571
|
|
|
NM_182914.3(SYNE2):c.16095-13G>A
|
|
|
|
NM_182914.3(SYNE2):c.16095-13G>C
|
|
|
|
NM_182914.3(SYNE2):c.16095-14C>G
|
|
|
|
NM_182914.3(SYNE2):c.16095-14C>T
|
rs748585321
|
|
|
NM_182914.3(SYNE2):c.16116C>T (p.Ala5372=)
|
|
|
|
NM_182914.3(SYNE2):c.16261C>T (p.Leu5421=)
|
rs1477350865
|
|
|
NM_182914.3(SYNE2):c.16290G>A (p.Gln5430=)
|
|
|
|
NM_182914.3(SYNE2):c.16300-20C>T
|
|
|
|
NM_182914.3(SYNE2):c.16302G>A (p.Glu5434=)
|
|
|
|
NM_182914.3(SYNE2):c.16328AAG[1] (p.Glu5444del)
|
rs751691446
|
|
|
NM_182914.3(SYNE2):c.16368C>G (p.Leu5456=)
|
rs1395361762
|
|
|
NM_182914.3(SYNE2):c.16377C>T (p.Pro5459=)
|
|
|
|
NM_182914.3(SYNE2):c.16392C>T (p.Thr5464=)
|
|
|
|
NM_182914.3(SYNE2):c.16410C>T (p.Gly5470=)
|
|
|
|
NM_182914.3(SYNE2):c.16413C>G (p.Pro5471=)
|
rs2153717931
|
|
|
NM_182914.3(SYNE2):c.16437T>C (p.Ala5479=)
|
|
|
|
NM_182914.3(SYNE2):c.16480-12C>A
|
|
|
|
NM_182914.3(SYNE2):c.16488C>T (p.Leu5496=)
|
|
|
|
NM_182914.3(SYNE2):c.1649-4G>A
|
rs768330126
|
|
|
NM_182914.3(SYNE2):c.16563T>C (p.Asp5521=)
|
rs2153721081
|
|
|
NM_182914.3(SYNE2):c.16572C>T (p.His5524=)
|
rs746969779
|
|
|
NM_182914.3(SYNE2):c.16606-7A>T
|
rs778409368
|
|
|
NM_182914.3(SYNE2):c.16608T>C (p.Asn5536=)
|
rs2153722940
|
|
|
NM_182914.3(SYNE2):c.16701G>T (p.Thr5567=)
|
rs200950664
|
|
|
NM_182914.3(SYNE2):c.16731G>A (p.Arg5577=)
|
|
|
|
NM_182914.3(SYNE2):c.16746A>C (p.Ala5582=)
|
rs1056022982
|
|
|
NM_182914.3(SYNE2):c.16760+12C>G
|
rs1269780296
|
|
|
NM_182914.3(SYNE2):c.16761-6T>C
|
|
|
|
NM_182914.3(SYNE2):c.16791G>A (p.Lys5597=)
|
rs2153723202
|
|
|
NM_182914.3(SYNE2):c.16842A>G (p.Glu5614=)
|
|
|
|
NM_182914.3(SYNE2):c.16893G>A (p.Gln5631=)
|
rs2153723304
|
|
|
NM_182914.3(SYNE2):c.17007A>G (p.Glu5669=)
|
|
|
|
NM_182914.3(SYNE2):c.17034G>A (p.Thr5678=)
|
|
|
|
NM_182914.3(SYNE2):c.17055C>T (p.Val5685=)
|
|
|
|
NM_182914.3(SYNE2):c.17100G>A (p.Arg5700=)
|
rs1249953280
|
|
|
NM_182914.3(SYNE2):c.17175A>C (p.Ala5725=)
|
|
|
|
NM_182914.3(SYNE2):c.17235+15G>A
|
|
|
|
NM_182914.3(SYNE2):c.17236-14_17236-11del
|
|
|
|
NM_182914.3(SYNE2):c.17236-6T>C
|
|
|
|
NM_182914.3(SYNE2):c.17295A>G (p.Gly5765=)
|
rs2153731238
|
|
|
NM_182914.3(SYNE2):c.17322G>C (p.Leu5774=)
|
rs2098427101
|
|
|
NM_182914.3(SYNE2):c.17352C>A (p.Ile5784=)
|
rs371404598
|
|
|
NM_182914.3(SYNE2):c.1737C>T (p.Ser579=)
|
|
|
|
NM_182914.3(SYNE2):c.17415C>T (p.Phe5805=)
|
|
|
|
NM_182914.3(SYNE2):c.17430+13C>T
|
|
|
|
NM_182914.3(SYNE2):c.17430+18T>G
|
rs2153731336
|
|
|
NM_182914.3(SYNE2):c.1746A>G (p.Gln582=)
|
rs2096582034
|
|
|
NM_182914.3(SYNE2):c.17523C>T (p.His5841=)
|
rs202141038
|
|
|
NM_182914.3(SYNE2):c.1753C>T (p.Leu585=)
|
|
|
|
NM_182914.3(SYNE2):c.17556+16C>T
|
|
|
|
NM_182914.3(SYNE2):c.17557-17_17557-15del
|
rs781761095
|
|
|
NM_182914.3(SYNE2):c.17557-4G>T
|
|
|
|
NM_182914.3(SYNE2):c.17618C>A (p.Ala5873Glu)
|
rs563482043
|
|
|
NM_182914.3(SYNE2):c.17640C>T (p.Leu5880=)
|
|
|
|
NM_182914.3(SYNE2):c.17685C>T (p.His5895=)
|
rs1596080039
|
|
|
NM_182914.3(SYNE2):c.17712+10C>G
|
rs2139503640
|
|
|
NM_182914.3(SYNE2):c.17713-4G>T
|
|
|
|
NM_182914.3(SYNE2):c.17730G>A (p.Gln5910=)
|
rs2139570393
|
|
|
NM_182914.3(SYNE2):c.17751T>C (p.Asn5917=)
|
rs898812637
|
|
|
NM_182914.3(SYNE2):c.17754A>T (p.Thr5918=)
|
|
|
|
NM_182914.3(SYNE2):c.17784G>A (p.Glu5928=)
|
rs572217007
|
|
|
NM_182914.3(SYNE2):c.17814C>T (p.Asn5938=)
|
|
|
|
NM_182914.3(SYNE2):c.17877C>T (p.Cys5959=)
|
rs764653982
|
|
|
NM_182914.3(SYNE2):c.17964A>G (p.Arg5988=)
|
|
|
|
NM_182914.3(SYNE2):c.17976C>T (p.Ile5992=)
|
|
|
|
NM_182914.3(SYNE2):c.18030C>T (p.Ile6010=)
|
|
|
|
NM_182914.3(SYNE2):c.18038+15A>G
|
|
|
|
NM_182914.3(SYNE2):c.18038+16A>G
|
|
|
|
NM_182914.3(SYNE2):c.18039-16C>A
|
|
|
|
NM_182914.3(SYNE2):c.18039-4G>A
|
|
|
|
NM_182914.3(SYNE2):c.18039-6G>A
|
|
|
|
NM_182914.3(SYNE2):c.18105C>T (p.Arg6035=)
|
|
|
|
NM_182914.3(SYNE2):c.18189C>T (p.Leu6063=)
|
|
|
|
NM_182914.3(SYNE2):c.18190G>A (p.Ala6064Thr)
|
rs182079744
|
|
|
NM_182914.3(SYNE2):c.18201+11C>T
|
|
|
|
NM_182914.3(SYNE2):c.18202-10G>A
|
rs754429236
|
|
|
NM_182914.3(SYNE2):c.18202-6T>C
|
|
|
|
NM_182914.3(SYNE2):c.18271C>T (p.Leu6091=)
|
|
|
|
NM_182914.3(SYNE2):c.1837-20G>A
|
|
|
|
NM_182914.3(SYNE2):c.1837-5T>C
|
|
|
|
NM_182914.3(SYNE2):c.18389+8C>T
|
rs748398363
|
|
|
NM_182914.3(SYNE2):c.18417G>A (p.Gln6139=)
|
rs371461730
|
|
|
NM_182914.3(SYNE2):c.18464C>T (p.Ala6155Val)
|
|
|
|
NM_182914.3(SYNE2):c.18495A>G (p.Ser6165=)
|
|
|
|
NM_182914.3(SYNE2):c.18528G>C (p.Leu6176=)
|
|
|
|
NM_182914.3(SYNE2):c.18541-4G>A
|
rs777089980
|
|
|
NM_182914.3(SYNE2):c.18541-5T>C
|
|
|
|
NM_182914.3(SYNE2):c.18541-6A>G
|
|
|
|
NM_182914.3(SYNE2):c.18576G>A (p.Gln6192=)
|
|
|
|
NM_182914.3(SYNE2):c.18601C>A (p.Arg6201=)
|
rs151081811
|
|
|
NM_182914.3(SYNE2):c.18606G>T (p.Arg6202=)
|
|
|
|
NM_182914.3(SYNE2):c.18621C>T (p.Asn6207=)
|
rs929148063
|
|
|
NM_182914.3(SYNE2):c.18705C>G (p.Ala6235=)
|
|
|
|
NM_182914.3(SYNE2):c.18724-11C>A
|
|
|
|
NM_182914.3(SYNE2):c.18724-6T>C
|
rs2140199846
|
|
|
NM_182914.3(SYNE2):c.1881T>A (p.Thr627=)
|
|
|
|
NM_182914.3(SYNE2):c.18837C>T (p.Ala6279=)
|
|
|
|
NM_182914.3(SYNE2):c.18838G>A (p.Asp6280Asn)
|
|
|
|
NM_182914.3(SYNE2):c.18862-13C>T
|
|
|
|
NM_182914.3(SYNE2):c.18951G>A (p.Leu6317=)
|
|
|
|
NM_182914.3(SYNE2):c.19002G>A (p.Gln6334=)
|
|
|
|
NM_182914.3(SYNE2):c.19167T>C (p.Ser6389=)
|
rs747527253
|
|
|
NM_182914.3(SYNE2):c.19179G>C (p.Leu6393=)
|
rs2140246772
|
|
|
NM_182914.3(SYNE2):c.19200G>A (p.Gly6400=)
|
rs369292348
|
|
|
NM_182914.3(SYNE2):c.19233C>T (p.Ser6411=)
|
|
|
|
NM_182914.3(SYNE2):c.19275G>A (p.Val6425=)
|
rs772092387
|
|
|
NM_182914.3(SYNE2):c.19275G>C (p.Val6425=)
|
rs772092387
|
|
|
NM_182914.3(SYNE2):c.19275G>T (p.Val6425=)
|
rs772092387
|
|
|
NM_182914.3(SYNE2):c.19296A>G (p.Glu6432=)
|
|
|
|
NM_182914.3(SYNE2):c.19395G>A (p.Ala6465=)
|
|
|
|
NM_182914.3(SYNE2):c.19402+11G>A
|
|
|
|
NM_182914.3(SYNE2):c.19402+13C>T
|
|
|
|
NM_182914.3(SYNE2):c.19402+14del
|
rs754629074
|
|
|
NM_182914.3(SYNE2):c.19402+20T>C
|
|
|
|
NM_182914.3(SYNE2):c.19402+7C>G
|
rs1435729964
|
|
|
NM_182914.3(SYNE2):c.19403-17G>T
|
|
|
|
NM_182914.3(SYNE2):c.19416G>A (p.Ser6472=)
|
|
|
|
NM_182914.3(SYNE2):c.19419T>C (p.Asp6473=)
|
rs1222194629
|
|
|
NM_182914.3(SYNE2):c.19512T>C (p.Pro6504=)
|
rs945745890
|
|
|
NM_182914.3(SYNE2):c.19515G>A (p.Ala6505=)
|
|
|
|
NM_182914.3(SYNE2):c.19524C>A (p.Thr6508=)
|
|
|
|
NM_182914.3(SYNE2):c.19524C>T (p.Thr6508=)
|
|
|
|
NM_182914.3(SYNE2):c.19542+10_19542+11delinsGT
|
|
|
|
NM_182914.3(SYNE2):c.19560T>C (p.Pro6520=)
|
rs2140328414
|
|
|
NM_182914.3(SYNE2):c.19620A>G (p.Glu6540=)
|
rs755594887
|
|
|
NM_182914.3(SYNE2):c.19641C>T (p.Ile6547=)
|
|
|
|
NM_182914.3(SYNE2):c.19644A>G (p.Thr6548=)
|
|
|
|
NM_182914.3(SYNE2):c.19658-16G>A
|
|
|
|
NM_182914.3(SYNE2):c.19658-4C>A
|
|
|
|
NM_182914.3(SYNE2):c.19701C>T (p.His6567=)
|
rs1432528248
|
|
|
NM_182914.3(SYNE2):c.19734G>A (p.Gln6578=)
|
rs1390602240
|
|
|
NM_182914.3(SYNE2):c.19860+16G>C
|
|
|
|
NM_182914.3(SYNE2):c.19894T>C (p.Leu6632=)
|
|
|
|
NM_182914.3(SYNE2):c.19902C>T (p.Val6634=)
|
rs1281358104
|
|
|
NM_182914.3(SYNE2):c.19914G>C (p.Val6638=)
|
|
|
|
NM_182914.3(SYNE2):c.19944C>T (p.Ser6648=)
|
rs1360220384
|
|
|
NM_182914.3(SYNE2):c.19947C>G (p.Pro6649=)
|
|
|
|
NM_182914.3(SYNE2):c.19947C>T (p.Pro6649=)
|
|
|
|
NM_182914.3(SYNE2):c.19974C>G (p.Leu6658=)
|
|
|
|
NM_182914.3(SYNE2):c.2001+8C>A
|
rs1594650966
|
|
|
NM_182914.3(SYNE2):c.2001+8C>G
|
|
|
|
NM_182914.3(SYNE2):c.20010C>T (p.Gly6670=)
|
rs748703042
|
|
|
NM_182914.3(SYNE2):c.20016G>A (p.Val6672=)
|
rs2140383197
|
|
|
NM_182914.3(SYNE2):c.2002-12T>G
|
|
|
|
NM_182914.3(SYNE2):c.20031G>A (p.Gly6677=)
|
|
|
|
NM_182914.3(SYNE2):c.20033G>C (p.Gly6678Ala)
|
rs140676416
|
|
|
NM_182914.3(SYNE2):c.20043G>A (p.Gln6681=)
|
rs938735293
|
|
|
NM_182914.3(SYNE2):c.20046G>A (p.Ser6682=)
|
|
|
|
NM_182914.3(SYNE2):c.20061+10C>G
|
rs2098689996
|
|
|
NM_182914.3(SYNE2):c.20116C>A (p.Arg6706=)
|
|
|
|
NM_182914.3(SYNE2):c.20160G>T (p.Arg6720=)
|
|
|
|
NM_182914.3(SYNE2):c.20191-8G>C
|
rs1596324923
|
|
|
NM_182914.3(SYNE2):c.20253C>T (p.Asn6751=)
|
rs867115050
|
|
|
NM_182914.3(SYNE2):c.20338C>A (p.Arg6780=)
|
rs138437515
|
|
|
NM_182914.3(SYNE2):c.20382+13G>A
|
|
|
|
NM_182914.3(SYNE2):c.20403C>A (p.Pro6801=)
|
|
|
|
NM_182914.3(SYNE2):c.20469+15C>G
|
rs374908266
|
|
|
NM_182914.3(SYNE2):c.20469+8G>T
|
|
|
|
NM_182914.3(SYNE2):c.20470-40_20470-18del
|
rs2140501772
|
|
|
NM_182914.3(SYNE2):c.20470-7C>G
|
rs1555563835
|
|
|
NM_182914.3(SYNE2):c.20472C>T (p.Phe6824=)
|
rs1567706037
|
|
|
NM_182914.3(SYNE2):c.20516+18T>C
|
rs2098712580
|
|
|
NM_182914.3(SYNE2):c.20516+18_20516+21dup
|
rs2140505248
|
|
|
NM_182914.3(SYNE2):c.20517-12C>T
|
|
|
|
NM_182914.3(SYNE2):c.20517-15C>G
|
|
|
|
NM_182914.3(SYNE2):c.20517-19C>A
|
rs375356310
|
|
|
NM_182914.3(SYNE2):c.20551C>G (p.Leu6851Val)
|
rs564532190
|
|
|
NM_182914.3(SYNE2):c.20553C>T (p.Leu6851=)
|
|
|
|
NM_182914.3(SYNE2):c.20598G>A (p.Leu6866=)
|
rs369949914
|
|
|
NM_182914.3(SYNE2):c.20598G>C (p.Leu6866=)
|
rs369949914
|
|
|
NM_182914.3(SYNE2):c.20610C>T (p.Leu6870=)
|
|
|
|
NM_182914.3(SYNE2):c.20634C>T (p.Ser6878=)
|
rs143162390
|
|
|
NM_182914.3(SYNE2):c.20718C>T (p.Pro6906=)
|
rs547101639
|
|
|
NM_182914.3(SYNE2):c.207T>C (p.Asp69=)
|
rs2153417448
|
|
|
NM_182914.3(SYNE2):c.2133T>C (p.Asn711=)
|
|
|
|
NM_182914.3(SYNE2):c.2152-11G>A
|
|
|
|
NM_182914.3(SYNE2):c.2304A>G (p.Glu768=)
|
|
|
|
NM_182914.3(SYNE2):c.2314-10G>A
|
|
|
|
NM_182914.3(SYNE2):c.237+20C>A
|
|
|
|
NM_182914.3(SYNE2):c.2421T>A (p.Val807=)
|
|
|
|
NM_182914.3(SYNE2):c.2448T>A (p.Ile816=)
|
rs1594712638
|
|
|
NM_182914.3(SYNE2):c.2472+11A>G
|
|
|
|
NM_182914.3(SYNE2):c.2472+2TC[2]
|
rs768588312
|
|
|
NM_182914.3(SYNE2):c.2472+8T>C
|
rs757397771
|
|
|
NM_182914.3(SYNE2):c.2475C>A (p.Ile825=)
|
|
|
|
NM_182914.3(SYNE2):c.2496A>G (p.Ala832=)
|
|
|
|
NM_182914.3(SYNE2):c.2498C>G (p.Ala833Gly)
|
rs200503488
|
|
|
NM_182914.3(SYNE2):c.2499G>T (p.Ala833=)
|
rs761478156
|
|
|
NM_182914.3(SYNE2):c.2595G>A (p.Gln865=)
|
|
|
|
NM_182914.3(SYNE2):c.2598G>A (p.Gln866=)
|
rs2153485917
|
|
|
NM_182914.3(SYNE2):c.2622C>T (p.Pro874=)
|
|
|
|
NM_182914.3(SYNE2):c.2652A>G (p.Ala884=)
|
|
|
|
NM_182914.3(SYNE2):c.2664T>C (p.Ser888=)
|
rs2153490426
|
|
|
NM_182914.3(SYNE2):c.2665A>G (p.Asn889Asp)
|
rs370800852
|
|
|
NM_182914.3(SYNE2):c.2724T>C (p.Thr908=)
|
|
|
|
NM_182914.3(SYNE2):c.2782-5T>C
|
|
|
|
NM_182914.3(SYNE2):c.2782-5dup
|
rs750650701
|
|
|
NM_182914.3(SYNE2):c.2874G>A (p.Lys958=)
|
|
|
|
NM_182914.3(SYNE2):c.288T>C (p.His96=)
|
|
|
|
NM_182914.3(SYNE2):c.2940+8A>G
|
rs1016739113
|
|
|
NM_182914.3(SYNE2):c.2941-20T>C
|
|
|
|
NM_182914.3(SYNE2):c.297A>G (p.Thr99=)
|
|
|
|
NM_182914.3(SYNE2):c.2982C>T (p.His994=)
|
rs1278857159
|
|
|
NM_182914.3(SYNE2):c.3004C>T (p.Leu1002=)
|
|
|
|
NM_182914.3(SYNE2):c.3039A>G (p.Gln1013=)
|
rs765896679
|
|
|
NM_182914.3(SYNE2):c.315+20A>C
|
rs2153417624
|
|
|
NM_182914.3(SYNE2):c.3150C>T (p.Asn1050=)
|
|
|
|
NM_182914.3(SYNE2):c.3152+9T>C
|
rs2096719929
|
|
|
NM_182914.3(SYNE2):c.3153-16T>C
|
|
|
|
NM_182914.3(SYNE2):c.3153-19A>G
|
|
|
|
NM_182914.3(SYNE2):c.3153-20C>T
|
|
|
|
NM_182914.3(SYNE2):c.3153-9C>G
|
rs1295049768
|
|
|
NM_182914.3(SYNE2):c.316-11T>C
|
rs749478491
|
|
|
NM_182914.3(SYNE2):c.3234A>C (p.Ser1078=)
|
|
|
|
NM_182914.3(SYNE2):c.3244-7C>T
|
rs766912711
|
|
|
NM_182914.3(SYNE2):c.3279A>G (p.Ser1093=)
|
|
|
|
NM_182914.3(SYNE2):c.3294G>A (p.Leu1098=)
|
rs766305428
|
|
|
NM_182914.3(SYNE2):c.3354-13T>G
|
|
|
|
NM_182914.3(SYNE2):c.3381A>G (p.Glu1127=)
|
rs2153500255
|
|
|
NM_182914.3(SYNE2):c.339T>A (p.Val113=)
|
|
|
|
NM_182914.3(SYNE2):c.3456G>T (p.Leu1152=)
|
|
|
|
NM_182914.3(SYNE2):c.3471A>T (p.Thr1157=)
|
|
|
|
NM_182914.3(SYNE2):c.3480+9del
|
rs754100176
|
|
|
NM_182914.3(SYNE2):c.3481-17T>A
|
|
|
|
NM_182914.3(SYNE2):c.3558C>T (p.Asp1186=)
|
|
|
|
NM_182914.3(SYNE2):c.3591C>T (p.Asp1197=)
|
|
|
|
NM_182914.3(SYNE2):c.3645A>G (p.Glu1215=)
|
|
|
|
NM_182914.3(SYNE2):c.3696TCT[1] (p.Leu1234del)
|
rs777263472
|
|
|
NM_182914.3(SYNE2):c.3720T>C (p.Pro1240=)
|
|
|
|
NM_182914.3(SYNE2):c.3786+7A>G
|
rs778686599
|
|
|
NM_182914.3(SYNE2):c.381A>G (p.Leu127=)
|
rs2153417791
|
|
|
NM_182914.3(SYNE2):c.3846C>T (p.Gly1282=)
|
|
|
|
NM_182914.3(SYNE2):c.3855A>T (p.Val1285=)
|
rs371327530
|
|
|
NM_182914.3(SYNE2):c.3882A>G (p.Leu1294=)
|
|
|
|
NM_182914.3(SYNE2):c.4023C>T (p.Pro1341=)
|
|
|
|
NM_182914.3(SYNE2):c.402C>T (p.His134=)
|
rs2153417811
|
|
|
NM_182914.3(SYNE2):c.4032C>T (p.Asp1344=)
|
|
|
|
NM_182914.3(SYNE2):c.408+15G>A
|
|
|
|
NM_182914.3(SYNE2):c.409-16A>T
|
rs1358509460
|
|
|
NM_182914.3(SYNE2):c.4119G>A (p.Lys1373=)
|
|
|
|
NM_182914.3(SYNE2):c.4194C>G (p.Ser1398=)
|
|
|
|
NM_182914.3(SYNE2):c.4248T>C (p.Tyr1416=)
|
|
|
|
NM_182914.3(SYNE2):c.4260G>A (p.Glu1420=)
|
rs2153506009
|
|
|
NM_182914.3(SYNE2):c.4338G>C (p.Val1446=)
|
|
|
|
NM_182914.3(SYNE2):c.4397+13C>T
|
|
|
|
NM_182914.3(SYNE2):c.4398-11T>A
|
rs2096801796
|
|
|
NM_182914.3(SYNE2):c.4398-8T>A
|
|
|
|
NM_182914.3(SYNE2):c.4440T>C (p.Tyr1480=)
|
|
|
|
NM_182914.3(SYNE2):c.4512C>T (p.Thr1504=)
|
rs935097653
|
|
|
NM_182914.3(SYNE2):c.4572C>T (p.Thr1524=)
|
|
|
|
NM_182914.3(SYNE2):c.4577+15dup
|
|
|
|
NM_182914.3(SYNE2):c.4578-8A>G
|
rs1315906572
|
|
|
NM_182914.3(SYNE2):c.4617A>G (p.Gln1539=)
|
rs2153516799
|
|
|
NM_182914.3(SYNE2):c.4647T>A (p.Thr1549=)
|
|
|
|
NM_182914.3(SYNE2):c.4728+14C>T
|
|
|
|
NM_182914.3(SYNE2):c.4728+16A>C
|
|
|
|
NM_182914.3(SYNE2):c.4728+16A>G
|
|
|
|
NM_182914.3(SYNE2):c.4729-15A>G
|
|
|
|
NM_182914.3(SYNE2):c.4729-15A>T
|
|
|
|
NM_182914.3(SYNE2):c.474G>C (p.Val158=)
|
|
|
|
NM_182914.3(SYNE2):c.4752T>C (p.Phe1584=)
|
rs377521714
|
|
|
NM_182914.3(SYNE2):c.4791C>T (p.Val1597=)
|
|
|
|
NM_182914.3(SYNE2):c.4803A>T (p.Leu1601=)
|
|
|
|
NM_182914.3(SYNE2):c.4806A>G (p.Gln1602=)
|
|
|
|
NM_182914.3(SYNE2):c.4839G>A (p.Glu1613=)
|
rs751067571
|
|
|
NM_182914.3(SYNE2):c.4888-7A>G
|
rs2096903178
|
|
|
NM_182914.3(SYNE2):c.489T>C (p.Pro163=)
|
rs2153430559
|
|
|
NM_182914.3(SYNE2):c.4941G>A (p.Leu1647=)
|
|
|
|
NM_182914.3(SYNE2):c.4971C>A (p.Val1657=)
|
rs2153528215
|
|
|
NM_182914.3(SYNE2):c.4992G>A (p.Lys1664=)
|
rs367993417
|
|
|
NM_182914.3(SYNE2):c.5010A>G (p.Glu1670=)
|
rs2153528258
|
|
|
NM_182914.3(SYNE2):c.5040A>G (p.Glu1680=)
|
|
|
|
NM_182914.3(SYNE2):c.5208A>C (p.Gly1736=)
|
|
|
|
NM_182914.3(SYNE2):c.5221C>T (p.His1741Tyr)
|
|
|
|
NM_182914.3(SYNE2):c.5226A>G (p.Ala1742=)
|
|
|
|
NM_182914.3(SYNE2):c.5238C>T (p.Ser1746=)
|
|
|
|
NM_182914.3(SYNE2):c.5298C>T (p.Ser1766=)
|
rs1216620814
|
|
|
NM_182914.3(SYNE2):c.5301C>T (p.Leu1767=)
|
|
|
|
NM_182914.3(SYNE2):c.5316T>G (p.Ser1772=)
|
|
|
|
NM_182914.3(SYNE2):c.5352+9G>A
|
|
|
|
NM_182914.3(SYNE2):c.5478T>C (p.Asn1826=)
|
|
|
|
NM_182914.3(SYNE2):c.5499A>G (p.Gln1833=)
|
|
|
|
NM_182914.3(SYNE2):c.54C>T (p.Ile18=)
|
|
|
|
NM_182914.3(SYNE2):c.5511T>G (p.Ser1837=)
|
|
|
|
NM_182914.3(SYNE2):c.5524+10A>G
|
|
|
|
NM_182914.3(SYNE2):c.5524+12A>G
|
rs2153533933
|
|
|
NM_182914.3(SYNE2):c.5525-12T>C
|
|
|
|
NM_182914.3(SYNE2):c.5525-7C>T
|
|
|
|
NM_182914.3(SYNE2):c.5535G>A (p.Lys1845=)
|
rs753226338
|
|
|
NM_182914.3(SYNE2):c.5637+15T>C
|
|
|
|
NM_182914.3(SYNE2):c.5637+8AT[2]
|
|
|
|
NM_182914.3(SYNE2):c.5766C>T (p.Phe1922=)
|
|
|
|
NM_182914.3(SYNE2):c.5840+10A>G
|
rs751855197
|
|
|
NM_182914.3(SYNE2):c.5840+16G>A
|
rs1359053735
|
|
|
NM_182914.3(SYNE2):c.5841-17G>C
|
rs376253496
|
|
|
NM_182914.3(SYNE2):c.5841-8T>C
|
|
|
|
NM_182914.3(SYNE2):c.590+15A>G
|
|
|
|
NM_182914.3(SYNE2):c.5906_5907inv (p.Met1969Thr)
|
|
|
|
NM_182914.3(SYNE2):c.5943A>G (p.Gln1981=)
|
rs2153537897
|
|
|
NM_182914.3(SYNE2):c.5967G>A (p.Gln1989=)
|
rs1367701552
|
|
|
NM_182914.3(SYNE2):c.6012G>T (p.Gly2004=)
|
rs2096968280
|
|
|
NM_182914.3(SYNE2):c.6021A>G (p.Glu2007=)
|
rs554969084
|
|
|
NM_182914.3(SYNE2):c.6060T>C (p.Asp2020=)
|
|
|
|
NM_182914.3(SYNE2):c.6165T>C (p.His2055=)
|
|
|
|
NM_182914.3(SYNE2):c.6210C>T (p.Ser2070=)
|
|
|
|
NM_182914.3(SYNE2):c.6225A>G (p.Pro2075=)
|
rs773319758
|
|
|
NM_182914.3(SYNE2):c.6297C>T (p.Thr2099=)
|
rs2153539753
|
|
|
NM_182914.3(SYNE2):c.6300C>T (p.Ile2100=)
|
|
|
|
NM_182914.3(SYNE2):c.6327C>T (p.Ala2109=)
|
rs778614480
|
|
|
NM_182914.3(SYNE2):c.633A>G (p.Arg211=)
|
|
|
|
NM_182914.3(SYNE2):c.6405-15T>C
|
|
|
|
NM_182914.3(SYNE2):c.6405-9G>C
|
|
|
|
NM_182914.3(SYNE2):c.6424C>T (p.Leu2142=)
|
|
|
|
NM_182914.3(SYNE2):c.6516A>G (p.Gln2172=)
|
|
|
|
NM_182914.3(SYNE2):c.6599A>G (p.Lys2200Arg)
|
rs551801857
|
|
|
NM_182914.3(SYNE2):c.6654C>T (p.Phe2218=)
|
rs2153541094
|
|
|
NM_182914.3(SYNE2):c.66T>C (p.His22=)
|
|
|
|
NM_182914.3(SYNE2):c.6714+18A>G
|
|
|
|
NM_182914.3(SYNE2):c.6715-13G>T
|
|
|
|
NM_182914.3(SYNE2):c.672A>G (p.Arg224=)
|
|
|
|
NM_182914.3(SYNE2):c.6732G>A (p.Leu2244=)
|
rs1442241383
|
|
|
NM_182914.3(SYNE2):c.6741C>T (p.His2247=)
|
|
|
|
NM_182914.3(SYNE2):c.6879+17A>G
|
|
|
|
NM_182914.3(SYNE2):c.6879+20C>T
|
|
|
|
NM_182914.3(SYNE2):c.6880-10C>T
|
rs2097030118
|
|
|
NM_182914.3(SYNE2):c.6880-4G>T
|
rs776756586
|
|
|
NM_182914.3(SYNE2):c.6916T>C (p.Leu2306=)
|
|
|
|
NM_182914.3(SYNE2):c.6A>G (p.Ala2=)
|
|
|
|
NM_182914.3(SYNE2):c.7010G>A (p.Cys2337Tyr)
|
rs762996751
|
|
|
NM_182914.3(SYNE2):c.7014A>G (p.Lys2338=)
|
|
|
|
NM_182914.3(SYNE2):c.7023T>C (p.Asp2341=)
|
rs2153545532
|
|
|
NM_182914.3(SYNE2):c.7024T>C (p.Leu2342=)
|
|
|
|
NM_182914.3(SYNE2):c.7074C>T (p.Asn2358=)
|
|
|
|
NM_182914.3(SYNE2):c.7185A>T (p.Ala2395=)
|
|
|
|
NM_182914.3(SYNE2):c.7194G>A (p.Lys2398=)
|
|
|
|
NM_182914.3(SYNE2):c.7214T>A (p.Ile2405Lys)
|
|
|
|
NM_182914.3(SYNE2):c.7257T>G (p.Leu2419=)
|
|
|
|
NM_182914.3(SYNE2):c.7299G>A (p.Glu2433=)
|
|
|
|
NM_182914.3(SYNE2):c.7377+11A>G
|
|
|
|
NM_182914.3(SYNE2):c.7378-17G>T
|
|
|
|
NM_182914.3(SYNE2):c.7378-19C>G
|
|
|
|
NM_182914.3(SYNE2):c.7407A>G (p.Lys2469=)
|
|
|
|
NM_182914.3(SYNE2):c.7487A>G (p.Tyr2496Cys)
|
rs536644359
|
|
|
NM_182914.3(SYNE2):c.7491G>A (p.Ser2497=)
|
rs375202949
|
|
|
NM_182914.3(SYNE2):c.7491G>C (p.Ser2497=)
|
|
|
|
NM_182914.3(SYNE2):c.750A>G (p.Glu250=)
|
|
|
|
NM_182914.3(SYNE2):c.753A>G (p.Gln251=)
|
|
|
|
NM_182914.3(SYNE2):c.7581A>G (p.Glu2527=)
|
|
|
|
NM_182914.3(SYNE2):c.7617G>A (p.Leu2539=)
|
rs200359168
|
|
|
NM_182914.3(SYNE2):c.7644-10del
|
|
|
|
NM_182914.3(SYNE2):c.7695A>T (p.Ala2565=)
|
|
|
|
NM_182914.3(SYNE2):c.7716T>C (p.Asp2572=)
|
|
|
|
NM_182914.3(SYNE2):c.7731G>A (p.Leu2577=)
|
|
|
|
NM_182914.3(SYNE2):c.7812A>G (p.Glu2604=)
|
rs2153576146
|
|
|
NM_182914.3(SYNE2):c.7878T>C (p.Asp2626=)
|
|
|
|
NM_182914.3(SYNE2):c.788-7C>G
|
rs769211907
|
|
|
NM_182914.3(SYNE2):c.7890C>T (p.Thr2630=)
|
|
|
|
NM_182914.3(SYNE2):c.7914T>G (p.Thr2638=)
|
|
|
|
NM_182914.3(SYNE2):c.7947A>G (p.Leu2649=)
|
|
|
|
NM_182914.3(SYNE2):c.80-11T>G
|
|
|
|
NM_182914.3(SYNE2):c.80-14T>A
|
|
|
|
NM_182914.3(SYNE2):c.80-4A>G
|
rs774804800
|
|
|
NM_182914.3(SYNE2):c.8118A>T (p.Ile2706=)
|
|
|
|
NM_182914.3(SYNE2):c.8146T>C (p.Leu2716=)
|
rs1353602939
|
|
|
NM_182914.3(SYNE2):c.8352G>A (p.Ser2784=)
|
|
|
|
NM_182914.3(SYNE2):c.8364G>A (p.Glu2788=)
|
|
|
|
NM_182914.3(SYNE2):c.8403_8404inv (p.Ser2802Gly)
|
|
|
|
NM_182914.3(SYNE2):c.8434C>A (p.Arg2812=)
|
|
|
|
NM_182914.3(SYNE2):c.8435G>A (p.Arg2812Gln)
|
rs553109676
|
|
|
NM_182914.3(SYNE2):c.8442A>G (p.Gln2814=)
|
|
|
|
NM_182914.3(SYNE2):c.844C>T (p.Leu282=)
|
rs1595894315
|
|
|
NM_182914.3(SYNE2):c.8655A>G (p.Gln2885=)
|
|
|
|
NM_182914.3(SYNE2):c.8712G>A (p.Glu2904=)
|
|
|
|
NM_182914.3(SYNE2):c.8733A>G (p.Leu2911=)
|
|
|
|
NM_182914.3(SYNE2):c.8799T>C (p.Asn2933=)
|
rs2097236513
|
|
|
NM_182914.3(SYNE2):c.8820C>T (p.His2940=)
|
rs1177872028
|
|
|
NM_182914.3(SYNE2):c.8844C>T (p.Phe2948=)
|
|
|
|
NM_182914.3(SYNE2):c.8862G>A (p.Ala2954=)
|
rs373930498
|
|
|
NM_182914.3(SYNE2):c.888+10C>A
|
|
|
|
NM_182914.3(SYNE2):c.889-9A>G
|
|
|
|
NM_182914.3(SYNE2):c.8902T>C (p.Leu2968=)
|
|
|
|
NM_182914.3(SYNE2):c.8931T>C (p.Val2977=)
|
rs1555453730
|
|
|
NM_182914.3(SYNE2):c.9144T>C (p.Tyr3048=)
|
rs1331113396
|
|
|
NM_182914.3(SYNE2):c.9183A>G (p.Gln3061=)
|
|
|
|
NM_182914.3(SYNE2):c.9231G>C (p.Pro3077=)
|
rs199659722
|
|
|
NM_182914.3(SYNE2):c.9330C>A (p.Thr3110=)
|
|
|
|
NM_182914.3(SYNE2):c.9423A>G (p.Val3141=)
|
|
|
|
NM_182914.3(SYNE2):c.9438A>G (p.Pro3146=)
|
|
|
|
NM_182914.3(SYNE2):c.9516A>G (p.Leu3172=)
|
|
|
|
NM_182914.3(SYNE2):c.9519G>A (p.Gln3173=)
|
rs779254549
|
|
|
NM_182914.3(SYNE2):c.9552T>C (p.His3184=)
|
rs2153577571
|
|
|
NM_182914.3(SYNE2):c.9573T>C (p.Asn3191=)
|
rs2097243006
|
|
|
NM_182914.3(SYNE2):c.9633T>C (p.Ala3211=)
|
rs1335670113
|
|
|
NM_182914.3(SYNE2):c.9669G>A (p.Ala3223=)
|
|
|
|
NM_182914.3(SYNE2):c.9744+18T>G
|
|
|
|
NM_182914.3(SYNE2):c.9745-11C>T
|
|
|
|
NM_182914.3(SYNE2):c.9768A>G (p.Glu3256=)
|
rs2153580472
|
|
|
NM_182914.3(SYNE2):c.9789A>G (p.Glu3263=)
|
rs1202584954
|
|
|
NM_182914.3(SYNE2):c.9816C>T (p.Ile3272=)
|
|
|
|
NM_182914.3(SYNE2):c.9870A>G (p.Glu3290=)
|
|
|
|
NM_182914.3(SYNE2):c.990+11T>C
|
|
|
|
NM_182914.3(SYNE2):c.991-16A>T
|
|
|
|
NM_182914.3(SYNE2):c.9926A>T (p.His3309Leu)
|
rs8010699
|
|
|
NM_182914.3(SYNE2):c.9939C>T (p.Leu3313=)
|
|
|
|
NM_182914.3(SYNE2):c.9979C>T (p.Leu3327=)
|
|
|
|
NM_182961.3(SYNE1):c.23146-7dup
|
rs770820426
|
|
|
NM_182961.4(SYNE1):c.10053T>C (p.Thr3351=)
|
|
|
|
NM_182961.4(SYNE1):c.10071C>G (p.Pro3357=)
|
|
|
|
NM_182961.4(SYNE1):c.10092G>A (p.Gln3364=)
|
rs2154076978
|
|
|
NM_182961.4(SYNE1):c.10182T>C (p.Tyr3394=)
|
rs2154069329
|
|
|
NM_182961.4(SYNE1):c.10195C>A (p.Arg3399=)
|
|
|
|
NM_182961.4(SYNE1):c.1020G>A (p.Val340=)
|
|
|
|
NM_182961.4(SYNE1):c.10221T>C (p.Ser3407=)
|
|
|
|
NM_182961.4(SYNE1):c.10260G>A (p.Ala3420=)
|
rs145287138
|
|
|
NM_182961.4(SYNE1):c.10264C>T (p.Leu3422=)
|
|
|
|
NM_182961.4(SYNE1):c.10269G>C (p.Arg3423=)
|
|
|
|
NM_182961.4(SYNE1):c.10287C>T (p.Leu3429=)
|
|
|
|
NM_182961.4(SYNE1):c.10296C>A (p.Ala3432=)
|
rs2096943229
|
|
|
NM_182961.4(SYNE1):c.10300-13A>T
|
|
|
|
NM_182961.4(SYNE1):c.10300-5T>C
|
rs1295479380
|
|
|
NM_182961.4(SYNE1):c.10332C>T (p.Ser3444=)
|
|
|
|
NM_182961.4(SYNE1):c.10335G>A (p.Leu3445=)
|
|
|
|
NM_182961.4(SYNE1):c.10347C>T (p.Ile3449=)
|
|
|
|
NM_182961.4(SYNE1):c.10356A>G (p.Lys3452=)
|
rs1318434658
|
|
|
NM_182961.4(SYNE1):c.10383C>T (p.Val3461=)
|
|
|
|
NM_182961.4(SYNE1):c.1048-7del
|
rs2154296673
|
|
|
NM_182961.4(SYNE1):c.10488G>A (p.Glu3496=)
|
|
|
|
NM_182961.4(SYNE1):c.10545C>T (p.Leu3515=)
|
rs527448479
|
|
|
NM_182961.4(SYNE1):c.10557A>G (p.Ser3519=)
|
|
|
|
NM_182961.4(SYNE1):c.10593A>G (p.Thr3531=)
|
|
|
|
NM_182961.4(SYNE1):c.10608+11C>T
|
|
|
|
NM_182961.4(SYNE1):c.10608+12T>A
|
|
|
|
NM_182961.4(SYNE1):c.10635G>A (p.Gly3545=)
|
|
|
|
NM_182961.4(SYNE1):c.10665C>T (p.Thr3555=)
|
rs2154051145
|
|
|
NM_182961.4(SYNE1):c.10788G>T (p.Val3596=)
|
|
|
|
NM_182961.4(SYNE1):c.1086G>A (p.Arg362=)
|
|
|
|
NM_182961.4(SYNE1):c.10870A>G (p.Arg3624Gly)
|
rs766081119
|
|
|
NM_182961.4(SYNE1):c.10879C>A (p.Arg3627Ser)
|
rs149712464
|
|
|
NM_182961.4(SYNE1):c.10880G>A (p.Arg3627His)
|
rs755667715
|
|
|
NM_182961.4(SYNE1):c.10927-14C>T
|
rs2154047106
|
|
|
NM_182961.4(SYNE1):c.10927-19C>T
|
rs765562019
|
|
|
NM_182961.4(SYNE1):c.10956A>G (p.Arg3652=)
|
|
|
|
NM_182961.4(SYNE1):c.11010C>T (p.His3670=)
|
rs143673038
|
|
|
NM_182961.4(SYNE1):c.11030G>A (p.Cys3677Tyr)
|
rs148028681
|
|
|
NM_182961.4(SYNE1):c.11067G>T (p.Leu3689=)
|
rs2154046463
|
|
|
NM_182961.4(SYNE1):c.11082+14del
|
rs2154046352
|
|
|
NM_182961.4(SYNE1):c.11082+8G>A
|
|
|
|
NM_182961.4(SYNE1):c.11091A>C (p.Ile3697=)
|
|
|
|
NM_182961.4(SYNE1):c.11166C>T (p.Gly3722=)
|
|
|
|
NM_182961.4(SYNE1):c.11172T>C (p.Thr3724=)
|
|
|
|
NM_182961.4(SYNE1):c.11248T>C (p.Leu3750=)
|
|
|
|
NM_182961.4(SYNE1):c.11253+8C>T
|
|
|
|
NM_182961.4(SYNE1):c.11391G>A (p.Leu3797=)
|
rs2154039780
|
|
|
NM_182961.4(SYNE1):c.11398C>T (p.Leu3800=)
|
|
|
|
NM_182961.4(SYNE1):c.11439A>G (p.Lys3813=)
|
|
|
|
NM_182961.4(SYNE1):c.11581-20T>G
|
|
|
|
NM_182961.4(SYNE1):c.11616A>G (p.Ser3872=)
|
|
|
|
NM_182961.4(SYNE1):c.11664G>A (p.Gln3888=)
|
rs1563267356
|
|
|
NM_182961.4(SYNE1):c.11667C>T (p.Asp3889=)
|
|
|
|
NM_182961.4(SYNE1):c.11685A>G (p.Lys3895=)
|
rs774133216
|
|
|
NM_182961.4(SYNE1):c.11691T>C (p.Asp3897=)
|
rs794727886
|
|
|
NM_182961.4(SYNE1):c.1176G>C (p.Val392=)
|
|
|
|
NM_182961.4(SYNE1):c.117T>C (p.Ser39=)
|
|
|
|
NM_182961.4(SYNE1):c.1185+8C>T
|
|
|
|
NM_182961.4(SYNE1):c.1186-14T>A
|
rs1388629828
|
|
|
NM_182961.4(SYNE1):c.1186-15C>A
|
|
|
|
NM_182961.4(SYNE1):c.1188C>G (p.Leu396=)
|
rs1252508397
|
|
|
NM_182961.4(SYNE1):c.11902-14T>C
|
rs1192832505
|
|
|
NM_182961.4(SYNE1):c.11902-21_11902-19dup
|
|
|
|
NM_182961.4(SYNE1):c.11913A>G (p.Glu3971=)
|
|
|
|
NM_182961.4(SYNE1):c.11992C>T (p.Leu3998=)
|
|
|
|
NM_182961.4(SYNE1):c.12015C>T (p.Asn4005=)
|
rs1370153399
|
|
|
NM_182961.4(SYNE1):c.12018G>T (p.Val4006=)
|
|
|
|
NM_182961.4(SYNE1):c.12060C>A (p.Ile4020=)
|
|
|
|
NM_182961.4(SYNE1):c.12079-15A>T
|
|
|
|
NM_182961.4(SYNE1):c.12168G>A (p.Gln4056=)
|
|
|
|
NM_182961.4(SYNE1):c.12213A>G (p.Glu4071=)
|
|
|
|
NM_182961.4(SYNE1):c.12219T>C (p.Ile4073=)
|
rs2154018582
|
|
|
NM_182961.4(SYNE1):c.12225+16A>C
|
|
|
|
NM_182961.4(SYNE1):c.12234C>T (p.His4078=)
|
|
|
|
NM_182961.4(SYNE1):c.12270A>G (p.Leu4090=)
|
rs1436148487
|
|
|
NM_182961.4(SYNE1):c.12285C>G (p.Ser4095=)
|
|
|
|
NM_182961.4(SYNE1):c.12309G>A (p.Ser4103=)
|
|
|
|
NM_182961.4(SYNE1):c.12351+19A>G
|
|
|
|
NM_182961.4(SYNE1):c.12408G>A (p.Lys4136=)
|
|
|
|
NM_182961.4(SYNE1):c.12444T>C (p.Asp4148=)
|
rs2096403666
|
|
|
NM_182961.4(SYNE1):c.12489G>A (p.Leu4163=)
|
|
|
|
NM_182961.4(SYNE1):c.12528+8T>C
|
rs1590375315
|
|
|
NM_182961.4(SYNE1):c.12546A>G (p.Leu4182=)
|
|
|
|
NM_182961.4(SYNE1):c.1254G>A (p.Leu418=)
|
|
|
|
NM_182961.4(SYNE1):c.1254G>T (p.Leu418=)
|
rs777939640
|
|
|
NM_182961.4(SYNE1):c.12573C>A (p.Thr4191=)
|
rs143851739
|
|
|
NM_182961.4(SYNE1):c.12585G>A (p.Lys4195=)
|
rs149536991
|
|
|
NM_182961.4(SYNE1):c.12606G>A (p.Lys4202=)
|
|
|
|
NM_182961.4(SYNE1):c.12636T>C (p.Asn4212=)
|
|
|
|
NM_182961.4(SYNE1):c.1263G>C (p.Ala421=)
|
rs949049150
|
|
|
NM_182961.4(SYNE1):c.12684G>C (p.Leu4228=)
|
rs2153982221
|
|
|
NM_182961.4(SYNE1):c.1269G>A (p.Val423=)
|
|
|
|
NM_182961.4(SYNE1):c.12795-14C>A
|
|
|
|
NM_182961.4(SYNE1):c.12852A>G (p.Ala4284=)
|
|
|
|
NM_182961.4(SYNE1):c.12876T>C (p.Ile4292=)
|
|
|
|
NM_182961.4(SYNE1):c.12897G>A (p.Lys4299=)
|
|
|
|
NM_182961.4(SYNE1):c.129+7G>A
|
rs1219452466
|
|
|
NM_182961.4(SYNE1):c.1290C>T (p.Thr430=)
|
rs755709525
|
|
|
NM_182961.4(SYNE1):c.12927T>C (p.Asp4309=)
|
|
|
|
NM_182961.4(SYNE1):c.12948A>G (p.Glu4316=)
|
rs1590242706
|
|
|
NM_182961.4(SYNE1):c.12C>T (p.Ser4=)
|
|
|
|
NM_182961.4(SYNE1):c.130-13T>G
|
|
|
|
NM_182961.4(SYNE1):c.13002G>A (p.Arg4334=)
|
rs2096250896
|
|
|
NM_182961.4(SYNE1):c.13023C>G (p.Thr4341=)
|
|
|
|
NM_182961.4(SYNE1):c.13191G>A (p.Lys4397=)
|
rs2153974179
|
|
|
NM_182961.4(SYNE1):c.1323G>A (p.Thr441=)
|
rs748132028
|
|
|
NM_182961.4(SYNE1):c.13257G>A (p.Glu4419=)
|
rs777483692
|
|
|
NM_182961.4(SYNE1):c.13323G>T (p.Val4441=)
|
rs770562637
|
|
|
NM_182961.4(SYNE1):c.13359C>T (p.Ser4453=)
|
|
|
|
NM_182961.4(SYNE1):c.1338T>C (p.Leu446=)
|
|
|
|
NM_182961.4(SYNE1):c.13422A>G (p.Arg4474=)
|
rs1590231826
|
|
|
NM_182961.4(SYNE1):c.13443C>T (p.His4481=)
|
|
|
|
NM_182961.4(SYNE1):c.1351-15T>A
|
rs750754911
|
|
|
NM_182961.4(SYNE1):c.1351-20T>A
|
|
|
|
NM_182961.4(SYNE1):c.1351-6T>C
|
rs1441507558
|
|
|
NM_182961.4(SYNE1):c.13536A>T (p.Gly4512=)
|
|
|
|
NM_182961.4(SYNE1):c.13545C>T (p.Ala4515=)
|
rs2153973054
|
|
|
NM_182961.4(SYNE1):c.13554C>G (p.Arg4518=)
|
rs115535983
|
|
|
NM_182961.4(SYNE1):c.13626C>T (p.Val4542=)
|
rs766469216
|
|
|
NM_182961.4(SYNE1):c.13725C>T (p.Cys4575=)
|
|
|
|
NM_182961.4(SYNE1):c.13752T>C (p.Val4584=)
|
|
|
|
NM_182961.4(SYNE1):c.13845T>C (p.Tyr4615=)
|
|
|
|
NM_182961.4(SYNE1):c.13863G>T (p.Thr4621=)
|
|
|
|
NM_182961.4(SYNE1):c.13902T>C (p.Asn4634=)
|
|
|
|
NM_182961.4(SYNE1):c.13998C>G (p.Val4666=)
|
|
|
|
NM_182961.4(SYNE1):c.14061G>T (p.Leu4687=)
|
rs3734365
|
|
|
NM_182961.4(SYNE1):c.14106C>T (p.Thr4702=)
|
rs146180064
|
|
|
NM_182961.4(SYNE1):c.1413T>C (p.Ser471=)
|
|
|
|
NM_182961.4(SYNE1):c.1419C>T (p.Asn473=)
|
|
|
|
NM_182961.4(SYNE1):c.14226C>T (p.Ser4742=)
|
rs2153970972
|
|
|
NM_182961.4(SYNE1):c.14247A>G (p.Pro4749=)
|
|
|
|
NM_182961.4(SYNE1):c.14331C>T (p.Thr4777=)
|
rs768076321
|
|
|
NM_182961.4(SYNE1):c.14439G>A (p.Glu4813=)
|
|
|
|
NM_182961.4(SYNE1):c.14508C>T (p.Thr4836=)
|
|
|
|
NM_182961.4(SYNE1):c.14565G>A (p.Arg4855=)
|
|
|
|
NM_182961.4(SYNE1):c.14571G>A (p.Gln4857=)
|
rs1327323805
|
|
|
NM_182961.4(SYNE1):c.1458C>A (p.Ala486=)
|
|
|
|
NM_182961.4(SYNE1):c.14619T>G (p.Gly4873=)
|
rs1355049690
|
|
|
NM_182961.4(SYNE1):c.14664C>T (p.Asp4888=)
|
|
|
|
NM_182961.4(SYNE1):c.14739A>G (p.Leu4913=)
|
|
|
|
NM_182961.4(SYNE1):c.14751G>A (p.Leu4917=)
|
rs769489729
|
|
|
NM_182961.4(SYNE1):c.14808C>T (p.Ser4936=)
|
rs886044346
|
|
|
NM_182961.4(SYNE1):c.14829G>T (p.Ala4943=)
|
|
|
|
NM_182961.4(SYNE1):c.1483A>G (p.Thr495Ala)
|
rs200954103
|
|
|
NM_182961.4(SYNE1):c.14883G>C (p.Ala4961=)
|
rs539549948
|
|
|
NM_182961.4(SYNE1):c.14928C>T (p.Asp4976=)
|
rs2153968669
|
|
|
NM_182961.4(SYNE1):c.14955+7A>G
|
|
|
|
NM_182961.4(SYNE1):c.14956-14T>G
|
rs368344443
|
|
|
NM_182961.4(SYNE1):c.1498C>T (p.Leu500=)
|
|
|
|
NM_182961.4(SYNE1):c.1500A>G (p.Leu500=)
|
|
|
|
NM_182961.4(SYNE1):c.15045G>A (p.Leu5015=)
|
rs2153955529
|
|
|
NM_182961.4(SYNE1):c.1516T>C (p.Leu506=)
|
rs2154279133
|
|
|
NM_182961.4(SYNE1):c.15294-14T>C
|
|
|
|
NM_182961.4(SYNE1):c.15294-15T>C
|
rs2153953166
|
|
|
NM_182961.4(SYNE1):c.15363A>G (p.Glu5121=)
|
rs2153952873
|
|
|
NM_182961.4(SYNE1):c.1539C>G (p.Leu513=)
|
|
|
|
NM_182961.4(SYNE1):c.1539C>T (p.Leu513=)
|
|
|
|
NM_182961.4(SYNE1):c.153C>T (p.Asp51=)
|
rs779081280
|
|
|
NM_182961.4(SYNE1):c.15453G>A (p.Val5151=)
|
|
|
|
NM_182961.4(SYNE1):c.15516C>G (p.Thr5172=)
|
rs777234795
|
|
|
NM_182961.4(SYNE1):c.15516C>T (p.Thr5172=)
|
rs777234795
|
|
|
NM_182961.4(SYNE1):c.15540C>G (p.Thr5180=)
|
rs748254961
|
|
|
NM_182961.4(SYNE1):c.15561C>A (p.Thr5187=)
|
rs780148867
|
|
|
NM_182961.4(SYNE1):c.15561C>T (p.Thr5187=)
|
|
|
|
NM_182961.4(SYNE1):c.1557A>G (p.Ala519=)
|
|
|
|
NM_182961.4(SYNE1):c.15618G>A (p.Leu5206=)
|
rs143034606
|
|
|
NM_182961.4(SYNE1):c.15636G>A (p.Glu5212=)
|
|
|
|
NM_182961.4(SYNE1):c.1563A>G (p.Ser521=)
|
|
|
|
NM_182961.4(SYNE1):c.15657+19G>A
|
|
|
|
NM_182961.4(SYNE1):c.15657+7T>G
|
|
|
|
NM_182961.4(SYNE1):c.15658-12A>G
|
|
|
|
NM_182961.4(SYNE1):c.15658-16G>A
|
|
|
|
NM_182961.4(SYNE1):c.15729G>A (p.Ser5243=)
|
rs1417590001
|
|
|
NM_182961.4(SYNE1):c.15750T>A (p.Leu5250=)
|
rs779480129
|
|
|
NM_182961.4(SYNE1):c.15771C>T (p.Phe5257=)
|
rs763330101
|
|
|
NM_182961.4(SYNE1):c.15774T>A (p.Val5258=)
|
rs2095952504
|
|
|
NM_182961.4(SYNE1):c.15798G>A (p.Ser5266=)
|
|
|
|
NM_182961.4(SYNE1):c.15816G>C (p.Arg5272=)
|
rs762050069
|
|
|
NM_182961.4(SYNE1):c.15849C>G (p.Ala5283=)
|
|
|
|
NM_182961.4(SYNE1):c.15849C>T (p.Ala5283=)
|
rs748953708
|
|
|
NM_182961.4(SYNE1):c.15858C>G (p.Thr5286=)
|
|
|
|
NM_182961.4(SYNE1):c.15897C>T (p.Ala5299=)
|
rs1590061246
|
|
|
NM_182961.4(SYNE1):c.1596G>A (p.Arg532=)
|
rs771982103
|
|
|
NM_182961.4(SYNE1):c.16083+16_16083+18del
|
rs756884141
|
|
|
NM_182961.4(SYNE1):c.16084-11C>A
|
|
|
|
NM_182961.4(SYNE1):c.16084-13A>G
|
|
|
|
NM_182961.4(SYNE1):c.16156T>C (p.Leu5386=)
|
rs2095864787
|
|
|
NM_182961.4(SYNE1):c.1617T>C (p.Leu539=)
|
rs886043491
|
|
|
NM_182961.4(SYNE1):c.16236+7C>T
|
|
|
|
NM_182961.4(SYNE1):c.1623A>G (p.Gln541=)
|
|
|
|
NM_182961.4(SYNE1):c.16257A>G (p.Glu5419=)
|
|
|
|
NM_182961.4(SYNE1):c.16278G>T (p.Thr5426=)
|
|
|
|
NM_182961.4(SYNE1):c.16294C>A (p.Arg5432=)
|
rs575137601
|
|
|
NM_182961.4(SYNE1):c.1632+12G>A
|
|
|
|
NM_182961.4(SYNE1):c.1632+7C>A
|
rs779081729
|
|
|
NM_182961.4(SYNE1):c.16326A>G (p.Thr5442=)
|
|
|
|
NM_182961.4(SYNE1):c.16383C>T (p.Asp5461=)
|
|
|
|
NM_182961.4(SYNE1):c.16390-6A>G
|
rs886043083
|
|
|
NM_182961.4(SYNE1):c.16410T>C (p.Asp5470=)
|
|
|
|
NM_182961.4(SYNE1):c.16434A>G (p.Glu5478=)
|
|
|
|
NM_182961.4(SYNE1):c.16443A>C (p.Ala5481=)
|
rs1255821455
|
|
|
NM_182961.4(SYNE1):c.16461G>A (p.Leu5487=)
|
|
|
|
NM_182961.4(SYNE1):c.16551T>C (p.Asn5517=)
|
|
|
|
NM_182961.4(SYNE1):c.16573-11T>C
|
|
|
|
NM_182961.4(SYNE1):c.16578A>G (p.Ala5526=)
|
rs1589922810
|
|
|
NM_182961.4(SYNE1):c.16584T>C (p.His5528=)
|
|
|
|
NM_182961.4(SYNE1):c.16618T>C (p.Leu5540=)
|
rs2153893153
|
|
|
NM_182961.4(SYNE1):c.16662T>C (p.Ile5554=)
|
rs2153892983
|
|
|
NM_182961.4(SYNE1):c.16711-4C>G
|
rs2153837083
|
|
|
NM_182961.4(SYNE1):c.16746G>A (p.Glu5582=)
|
|
|
|
NM_182961.4(SYNE1):c.16764G>A (p.Glu5588=)
|
|
|
|
NM_182961.4(SYNE1):c.16809T>C (p.Ser5603=)
|
|
|
|
NM_182961.4(SYNE1):c.1680C>T (p.Tyr560=)
|
|
|
|
NM_182961.4(SYNE1):c.16849C>A (p.Arg5617=)
|
|
|
|
NM_182961.4(SYNE1):c.16897-20C>T
|
|
|
|
NM_182961.4(SYNE1):c.16921T>C (p.Leu5641=)
|
rs1554410681
|
|
|
NM_182961.4(SYNE1):c.16929G>A (p.Lys5643=)
|
|
|
|
NM_182961.4(SYNE1):c.16942T>C (p.Leu5648=)
|
|
|
|
NM_182961.4(SYNE1):c.16963C>T (p.Leu5655=)
|
|
|
|
NM_182961.4(SYNE1):c.16974A>G (p.Pro5658=)
|
rs771166232
|
|
|
NM_182961.4(SYNE1):c.16984C>A (p.Arg5662Ser)
|
rs145899734
|
|
|
NM_182961.4(SYNE1):c.17001G>A (p.Glu5667=)
|
rs2153836703
|
|
|
NM_182961.4(SYNE1):c.17019+7C>T
|
rs2095511412
|
|
|
NM_182961.4(SYNE1):c.17020-10G>A
|
rs1307856395
|
|
|
NM_182961.4(SYNE1):c.17020-12T>G
|
rs1236300785
|
|
|
NM_182961.4(SYNE1):c.17020-9C>A
|
rs2153836238
|
|
|
NM_182961.4(SYNE1):c.17067G>C (p.Val5689=)
|
|
|
|
NM_182961.4(SYNE1):c.17079G>A (p.Gln5693=)
|
|
|
|
NM_182961.4(SYNE1):c.17121T>G (p.Pro5707=)
|
|
|
|
NM_182961.4(SYNE1):c.17133T>G (p.Ala5711=)
|
rs2153836101
|
|
|
NM_182961.4(SYNE1):c.17145G>A (p.Leu5715=)
|
|
|
|
NM_182961.4(SYNE1):c.17161C>A (p.Arg5721=)
|
rs138941941
|
|
|
NM_182961.4(SYNE1):c.17202+16C>T
|
|
|
|
NM_182961.4(SYNE1):c.17203-15T>G
|
|
|
|
NM_182961.4(SYNE1):c.17203-3A>T
|
rs1156531105
|
|
|
NM_182961.4(SYNE1):c.17203-8T>C
|
|
|
|
NM_182961.4(SYNE1):c.1729+8A>C
|
|
|
|
NM_182961.4(SYNE1):c.17322G>A (p.Leu5774=)
|
rs752995421
|
|
|
NM_182961.4(SYNE1):c.17346+16G>A
|
|
|
|
NM_182961.4(SYNE1):c.17346+18G>A
|
|
|
|
NM_182961.4(SYNE1):c.17347-5C>T
|
rs886043152
|
|
|
NM_182961.4(SYNE1):c.17367G>A (p.Lys5789=)
|
|
|
|
NM_182961.4(SYNE1):c.17448G>C (p.Leu5816=)
|
|
|
|
NM_182961.4(SYNE1):c.17483C>G (p.Thr5828Arg)
|
rs150376715
|
|
|
NM_182961.4(SYNE1):c.17484A>G (p.Thr5828=)
|
|
|
|
NM_182961.4(SYNE1):c.17496T>C (p.Asp5832=)
|
|
|
|
NM_182961.4(SYNE1):c.17499G>A (p.Gly5833=)
|
rs754642929
|
|
|
NM_182961.4(SYNE1):c.17529C>G (p.Pro5843=)
|
rs775771199
|
|
|
NM_182961.4(SYNE1):c.17529C>T (p.Pro5843=)
|
rs775771199
|
|
|
NM_182961.4(SYNE1):c.17541+12G>T
|
|
|
|
NM_182961.4(SYNE1):c.17541+13_17541+15del
|
|
|
|
NM_182961.4(SYNE1):c.17541+17T>A
|
|
|
|
NM_182961.4(SYNE1):c.17586G>A (p.Glu5862=)
|
rs186716473
|
|
|
NM_182961.4(SYNE1):c.17610C>T (p.Asn5870=)
|
|
|
|
NM_182961.4(SYNE1):c.17652T>C (p.Pro5884=)
|
|
|
|
NM_182961.4(SYNE1):c.17661T>C (p.Asn5887=)
|
|
|
|
NM_182961.4(SYNE1):c.17683-18T>C
|
|
|
|
NM_182961.4(SYNE1):c.17703C>T (p.Ala5901=)
|
|
|
|
NM_182961.4(SYNE1):c.1770C>T (p.Thr590=)
|
|
|
|
NM_182961.4(SYNE1):c.17716A>C (p.Arg5906=)
|
rs1178186821
|
|
|
NM_182961.4(SYNE1):c.17733T>G (p.Ala5911=)
|
rs1240369601
|
|
|
NM_182961.4(SYNE1):c.1773C>T (p.Thr591=)
|
|
|
|
NM_182961.4(SYNE1):c.17748C>T (p.Pro5916=)
|
|
|
|
NM_182961.4(SYNE1):c.17778A>G (p.Glu5926=)
|
rs997194150
|
|
|
NM_182961.4(SYNE1):c.17796C>T (p.Ser5932=)
|
rs531884117
|
|
|
NM_182961.4(SYNE1):c.17839T>C (p.Leu5947=)
|
rs2153785123
|
|
|
NM_182961.4(SYNE1):c.17851-6G>A
|
|
|
|
NM_182961.4(SYNE1):c.17865G>A (p.Gln5955=)
|
|
|
|
NM_182961.4(SYNE1):c.17925C>A (p.Ile5975=)
|
|
|
|
NM_182961.4(SYNE1):c.17943C>T (p.Ala5981=)
|
|
|
|
NM_182961.4(SYNE1):c.1794A>G (p.Ser598=)
|
rs141424852
|
|
|
NM_182961.4(SYNE1):c.17964G>A (p.Glu5988=)
|
rs1589457034
|
|
|
NM_182961.4(SYNE1):c.18012+12del
|
|
|
|
NM_182961.4(SYNE1):c.18016T>C (p.Leu6006=)
|
rs1589316417
|
|
|
NM_182961.4(SYNE1):c.18039C>G (p.Leu6013=)
|
|
|
|
NM_182961.4(SYNE1):c.18078G>A (p.Glu6026=)
|
|
|
|
NM_182961.4(SYNE1):c.180T>A (p.Gly60=)
|
rs761395846
|
|
|
NM_182961.4(SYNE1):c.180T>C (p.Gly60=)
|
rs761395846
|
|
|
NM_182961.4(SYNE1):c.180T>G (p.Gly60=)
|
rs761395846
|
|
|
NM_182961.4(SYNE1):c.18147C>T (p.Val6049=)
|
|
|
|
NM_182961.4(SYNE1):c.18186G>C (p.Ser6062=)
|
rs1057523204
|
|
|
NM_182961.4(SYNE1):c.18202T>C (p.Leu6068=)
|
rs995318683
|
|
|
NM_182961.4(SYNE1):c.18208-26_18208-12del
|
|
|
|
NM_182961.4(SYNE1):c.18240G>A (p.Arg6080=)
|
rs567954466
|
|
|
NM_182961.4(SYNE1):c.18259A>C (p.Arg6087=)
|
rs2153724903
|
|
|
NM_182961.4(SYNE1):c.18276C>T (p.Ala6092=)
|
rs2153724828
|
|
|
NM_182961.4(SYNE1):c.18381+12G>C
|
rs1405193041
|
|
|
NM_182961.4(SYNE1):c.18381+9dup
|
rs1160319452
|
|
|
NM_182961.4(SYNE1):c.18382-19_18382-17dup
|
rs1379525352
|
|
|
NM_182961.4(SYNE1):c.18382-9T>C
|
|
|
|
NM_182961.4(SYNE1):c.18414G>A (p.Val6138=)
|
|
|
|
NM_182961.4(SYNE1):c.18447C>T (p.Asn6149=)
|
rs374468447
|
|
|
NM_182961.4(SYNE1):c.18459G>A (p.Glu6153=)
|
|
|
|
NM_182961.4(SYNE1):c.18486C>G (p.Ala6162=)
|
rs140168690
|
|
|
NM_182961.4(SYNE1):c.18528G>C (p.Leu6176=)
|
|
|
|
NM_182961.4(SYNE1):c.18573+13G>C
|
|
|
|
NM_182961.4(SYNE1):c.18574-11G>A
|
rs1477560269
|
|
|
NM_182961.4(SYNE1):c.18574-11G>C
|
|
|
|
NM_182961.4(SYNE1):c.18574-12C>T
|
|
|
|
NM_182961.4(SYNE1):c.18576A>G (p.Gly6192=)
|
rs1267116175
|
|
|
NM_182961.4(SYNE1):c.18588G>A (p.Glu6196=)
|
|
|
|
NM_182961.4(SYNE1):c.18633C>G (p.Gly6211=)
|
|
|
|
NM_182961.4(SYNE1):c.186A>G (p.Lys62=)
|
rs768365924
|
|
|
NM_182961.4(SYNE1):c.18705+7T>C
|
rs2153679057
|
|
|
NM_182961.4(SYNE1):c.18706-12T>C
|
|
|
|
NM_182961.4(SYNE1):c.18720A>G (p.Glu6240=)
|
|
|
|
NM_182961.4(SYNE1):c.18726C>T (p.Ala6242=)
|
|
|
|
NM_182961.4(SYNE1):c.18759T>C (p.Ser6253=)
|
rs2153673156
|
|
|
NM_182961.4(SYNE1):c.18789G>T (p.Ser6263=)
|
|
|
|
NM_182961.4(SYNE1):c.18815+8T>C
|
rs2153672915
|
|
|
NM_182961.4(SYNE1):c.18844T>C (p.Leu6282=)
|
|
|
|
NM_182961.4(SYNE1):c.18849G>A (p.Gly6283=)
|
rs776505129
|
|
|
NM_182961.4(SYNE1):c.18864A>G (p.Lys6288=)
|
|
|
|
NM_182961.4(SYNE1):c.1890G>A (p.Glu630=)
|
|
|
|
NM_182961.4(SYNE1):c.18945T>C (p.Asn6315=)
|
|
|
|
NM_182961.4(SYNE1):c.18981C>T (p.Ser6327=)
|
|
|
|
NM_182961.4(SYNE1):c.19071A>T (p.Gly6357=)
|
|
|
|
NM_182961.4(SYNE1):c.19104+11G>A
|
rs1210886004
|
|
|
NM_182961.4(SYNE1):c.19105-16G>A
|
|
|
|
NM_182961.4(SYNE1):c.19105-19C>T
|
|
|
|
NM_182961.4(SYNE1):c.19155T>C (p.Asp6385=)
|
rs2153623542
|
|
|
NM_182961.4(SYNE1):c.19158A>C (p.Gly6386=)
|
|
|
|
NM_182961.4(SYNE1):c.19170C>G (p.Thr6390=)
|
|
|
|
NM_182961.4(SYNE1):c.19176T>G (p.Thr6392=)
|
rs2153623427
|
|
|
NM_182961.4(SYNE1):c.19218A>C (p.Ala6406=)
|
rs199869602
|
|
|
NM_182961.4(SYNE1):c.19260+10G>A
|
|
|
|
NM_182961.4(SYNE1):c.19260+20C>T
|
|
|
|
NM_182961.4(SYNE1):c.19261-19G>T
|
|
|
|
NM_182961.4(SYNE1):c.19293A>G (p.Glu6431=)
|
|
|
|
NM_182961.4(SYNE1):c.1932+17C>A
|
|
|
|
NM_182961.4(SYNE1):c.1932+19A>G
|
|
|
|
NM_182961.4(SYNE1):c.1932+9G>T
|
rs746181375
|
|
|
NM_182961.4(SYNE1):c.1933-6G>T
|
rs1451399398
|
|
|
NM_182961.4(SYNE1):c.1933-8T>C
|
rs2154267701
|
|
|
NM_182961.4(SYNE1):c.19335A>C (p.Pro6445=)
|
rs749079132
|
|
|
NM_182961.4(SYNE1):c.19365A>G (p.Glu6455=)
|
rs886044212
|
|
|
NM_182961.4(SYNE1):c.19410A>G (p.Ser6470=)
|
|
|
|
NM_182961.4(SYNE1):c.19422A>G (p.Gln6474=)
|
|
|
|
NM_182961.4(SYNE1):c.19446A>G (p.Arg6482=)
|
|
|
|
NM_182961.4(SYNE1):c.19467C>T (p.Phe6489=)
|
rs919585920
|
|
|
NM_182961.4(SYNE1):c.19470+13T>A
|
|
|
|
NM_182961.4(SYNE1):c.19470+14T>C
|
|
|
|
NM_182961.4(SYNE1):c.19470+14_19470+16del
|
|
|
|
NM_182961.4(SYNE1):c.19471-13C>T
|
rs1161750776
|
|
|
NM_182961.4(SYNE1):c.19488G>A (p.Leu6496=)
|
rs1393141949
|
|
|
NM_182961.4(SYNE1):c.19572+15C>T
|
|
|
|
NM_182961.4(SYNE1):c.19584G>A (p.Gln6528=)
|
|
|
|
NM_182961.4(SYNE1):c.19627T>C (p.Leu6543=)
|
|
|
|
NM_182961.4(SYNE1):c.19686G>A (p.Lys6562=)
|
rs1562462293
|
|
|
NM_182961.4(SYNE1):c.19692+7C>G
|
|
|
|
NM_182961.4(SYNE1):c.19693-19T>C
|
|
|
|
NM_182961.4(SYNE1):c.19693-20T>C
|
rs2153563935
|
|
|
NM_182961.4(SYNE1):c.19779G>A (p.Arg6593=)
|
|
|
|
NM_182961.4(SYNE1):c.19812T>C (p.Thr6604=)
|
|
|
|
NM_182961.4(SYNE1):c.19815T>C (p.Gly6605=)
|
rs776418227
|
|
|
NM_182961.4(SYNE1):c.19863G>A (p.Glu6621=)
|
rs2153563113
|
|
|
NM_182961.4(SYNE1):c.1986T>C (p.Asp662=)
|
rs754185293
|
|
|
NM_182961.4(SYNE1):c.19893+18G>T
|
rs1306460593
|
|
|
NM_182961.4(SYNE1):c.19894-17T>C
|
|
|
|
NM_182961.4(SYNE1):c.19894-20T>C
|
|
|
|
NM_182961.4(SYNE1):c.19914A>G (p.Glu6638=)
|
|
|
|
NM_182961.4(SYNE1):c.19968C>A (p.Val6656=)
|
|
|
|
NM_182961.4(SYNE1):c.19996C>T (p.Leu6666=)
|
|
|
|
NM_182961.4(SYNE1):c.20067+18A>C
|
rs186247729
|
|
|
NM_182961.4(SYNE1):c.20067+18A>G
|
|
|
|
NM_182961.4(SYNE1):c.20067+18A>T
|
|
|
|
NM_182961.4(SYNE1):c.20068-13G>A
|
|
|
|
NM_182961.4(SYNE1):c.20070G>A (p.Thr6690=)
|
rs141263831
|
|
|
NM_182961.4(SYNE1):c.20082G>A (p.Leu6694=)
|
|
|
|
NM_182961.4(SYNE1):c.20178T>A (p.Ile6726=)
|
rs1588441873
|
|
|
NM_182961.4(SYNE1):c.20190A>G (p.Thr6730=)
|
rs1244012304
|
|
|
NM_182961.4(SYNE1):c.20200-8T>C
|
|
|
|
NM_182961.4(SYNE1):c.20208A>G (p.Lys6736=)
|
rs1020385567
|
|
|
NM_182961.4(SYNE1):c.2037G>A (p.Leu679=)
|
rs1593222147
|
|
|
NM_182961.4(SYNE1):c.20396+18T>C
|
rs2153534765
|
|
|
NM_182961.4(SYNE1):c.20397-11A>G
|
|
|
|
NM_182961.4(SYNE1):c.20397-16A>G
|
|
|
|
NM_182961.4(SYNE1):c.20419C>T (p.Leu6807=)
|
|
|
|
NM_182961.4(SYNE1):c.20460T>C (p.Phe6820=)
|
|
|
|
NM_182961.4(SYNE1):c.20514T>C (p.His6838=)
|
rs2153528771
|
|
|
NM_182961.4(SYNE1):c.20529+7C>A
|
|
|
|
NM_182961.4(SYNE1):c.20530-16T>A
|
rs2083385032
|
|
|
NM_182961.4(SYNE1):c.20530-19A>G
|
|
|
|
NM_182961.4(SYNE1):c.20530-9T>A
|
rs2153525429
|
|
|
NM_182961.4(SYNE1):c.20580G>A (p.Leu6860=)
|
rs188203038
|
|
|
NM_182961.4(SYNE1):c.20580G>C (p.Leu6860=)
|
|
|
|
NM_182961.4(SYNE1):c.20586T>C (p.Thr6862=)
|
rs2083373670
|
|
|
NM_182961.4(SYNE1):c.20619C>T (p.Asp6873=)
|
|
|
|
NM_182961.4(SYNE1):c.20629C>T (p.Leu6877=)
|
|
|
|
NM_182961.4(SYNE1):c.2067G>A (p.Arg689=)
|
rs2154267528
|
|
|
NM_182961.4(SYNE1):c.20757C>T (p.Val6919=)
|
|
|
|
NM_182961.4(SYNE1):c.20796G>A (p.Lys6932=)
|
|
|
|
NM_182961.4(SYNE1):c.20829C>T (p.Tyr6943=)
|
rs1327298373
|
|
|
NM_182961.4(SYNE1):c.20863-12dup
|
|
|
|
NM_182961.4(SYNE1):c.20863-7T>G
|
|
|
|
NM_182961.4(SYNE1):c.20919C>T (p.Ser6973=)
|
|
|
|
NM_182961.4(SYNE1):c.20961T>C (p.Ser6987=)
|
|
|
|
NM_182961.4(SYNE1):c.2097+20A>C
|
rs201761319
|
|
|
NM_182961.4(SYNE1):c.2097+20A>G
|
|
|
|
NM_182961.4(SYNE1):c.20985A>G (p.Gln6995=)
|
|
|
|
NM_182961.4(SYNE1):c.21039+12G>A
|
|
|
|
NM_182961.4(SYNE1):c.21039+17C>T
|
|
|
|
NM_182961.4(SYNE1):c.21039+8A>G
|
|
|
|
NM_182961.4(SYNE1):c.21040-6G>A
|
|
|
|
NM_182961.4(SYNE1):c.21069T>A (p.Ser7023=)
|
|
|
|
NM_182961.4(SYNE1):c.21141A>G (p.Gln7047=)
|
|
|
|
NM_182961.4(SYNE1):c.21181C>T (p.Leu7061=)
|
|
|
|
NM_182961.4(SYNE1):c.21352-20A>G
|
|
|
|
NM_182961.4(SYNE1):c.21352-7T>G
|
rs756684680
|
|
|
NM_182961.4(SYNE1):c.21405C>T (p.His7135=)
|
rs2153478766
|
|
|
NM_182961.4(SYNE1):c.21414C>G (p.Ala7138=)
|
rs144904215
|
|
|
NM_182961.4(SYNE1):c.21447C>T (p.Ala7149=)
|
|
|
|
NM_182961.4(SYNE1):c.21453C>T (p.Tyr7151=)
|
|
|
|
NM_182961.4(SYNE1):c.21522+14T>C
|
|
|
|
NM_182961.4(SYNE1):c.21522+18C>T
|
rs1588175016
|
|
|
NM_182961.4(SYNE1):c.21523-11T>C
|
|
|
|
NM_182961.4(SYNE1):c.21523-6G>C
|
rs774046000
|
|
|
NM_182961.4(SYNE1):c.21594A>G (p.Leu7198=)
|
|
|
|
NM_182961.4(SYNE1):c.21711A>G (p.Leu7237=)
|
|
|
|
NM_182961.4(SYNE1):c.21717G>A (p.Gln7239=)
|
|
|
|
NM_182961.4(SYNE1):c.21793C>T (p.Leu7265=)
|
rs2153463509
|
|
|
NM_182961.4(SYNE1):c.2181C>G (p.Ala727=)
|
rs1593209190
|
|
|
NM_182961.4(SYNE1):c.21879G>A (p.Leu7293=)
|
rs749164483
|
|
|
NM_182961.4(SYNE1):c.21972G>A (p.Ser7324=)
|
|
|
|
NM_182961.4(SYNE1):c.21981C>G (p.Leu7327=)
|
rs148868250
|
|
|
NM_182961.4(SYNE1):c.21981C>T (p.Leu7327=)
|
rs148868250
|
|
|
NM_182961.4(SYNE1):c.21984T>A (p.Ser7328=)
|
rs779374633
|
|
|
NM_182961.4(SYNE1):c.22023C>T (p.Cys7341=)
|
|
|
|
NM_182961.4(SYNE1):c.22044+14A>G
|
|
|
|
NM_182961.4(SYNE1):c.22044+8G>T
|
|
|
|
NM_182961.4(SYNE1):c.22045-11T>C
|
|
|
|
NM_182961.4(SYNE1):c.22131G>A (p.Gly7377=)
|
rs1419205712
|
|
|
NM_182961.4(SYNE1):c.2214T>C (p.Ser738=)
|
|
|
|
NM_182961.4(SYNE1):c.22191+20A>T
|
|
|
|
NM_182961.4(SYNE1):c.22191+7G>T
|
|
|
|
NM_182961.4(SYNE1):c.22194A>T (p.Gly7398=)
|
|
|
|
NM_182961.4(SYNE1):c.22215C>T (p.Ser7405=)
|
rs560939744
|
|
|
NM_182961.4(SYNE1):c.22227T>C (p.Asp7409=)
|
|
|
|
NM_182961.4(SYNE1):c.2230C>T (p.Leu744=)
|
|
|
|
NM_182961.4(SYNE1):c.22346+12A>C
|
|
|
|
NM_182961.4(SYNE1):c.22347-13T>C
|
|
|
|
NM_182961.4(SYNE1):c.22347-20C>T
|
|
|
|
NM_182961.4(SYNE1):c.22347-9T>A
|
rs535951024
|
|
|
NM_182961.4(SYNE1):c.22356G>A (p.Gln7452=)
|
|
|
|
NM_182961.4(SYNE1):c.22476A>G (p.Glu7492=)
|
|
|
|
NM_182961.4(SYNE1):c.22485A>G (p.Arg7495=)
|
|
|
|
NM_182961.4(SYNE1):c.22495-10dup
|
rs767966157
|
|
|
NM_182961.4(SYNE1):c.22495-18_22495-16del
|
rs1438172102
|
|
|
NM_182961.4(SYNE1):c.225+16T>C
|
|
|
|
NM_182961.4(SYNE1):c.225+16T>G
|
|
|
|
NM_182961.4(SYNE1):c.2250+14G>T
|
|
|
|
NM_182961.4(SYNE1):c.22503A>G (p.Gln7501=)
|
|
|
|
NM_182961.4(SYNE1):c.2251-15C>T
|
rs758553708
|
|
|
NM_182961.4(SYNE1):c.22515C>T (p.Phe7505=)
|
|
|
|
NM_182961.4(SYNE1):c.22536C>T (p.His7512=)
|
|
|
|
NM_182961.4(SYNE1):c.22590-5A>G
|
|
|
|
NM_182961.4(SYNE1):c.226-12C>T
|
|
|
|
NM_182961.4(SYNE1):c.22749C>G (p.Ser7583=)
|
|
|
|
NM_182961.4(SYNE1):c.22764T>C (p.Ser7588=)
|
rs2153408930
|
|
|
NM_182961.4(SYNE1):c.22806C>T (p.Thr7602=)
|
|
|
|
NM_182961.4(SYNE1):c.22824+13_22824+15del
|
|
|
|
NM_182961.4(SYNE1):c.22824+9C>T
|
|
|
|
NM_182961.4(SYNE1):c.22836A>G (p.Lys7612=)
|
|
|
|
NM_182961.4(SYNE1):c.22839G>A (p.Val7613=)
|
rs1048202250
|
|
|
NM_182961.4(SYNE1):c.22842T>C (p.Phe7614=)
|
rs2076502631
|
|
|
NM_182961.4(SYNE1):c.22863C>T (p.Tyr7621=)
|
|
|
|
NM_182961.4(SYNE1):c.22872T>C (p.Thr7624=)
|
|
|
|
NM_182961.4(SYNE1):c.22878G>A (p.Glu7626=)
|
|
|
|
NM_182961.4(SYNE1):c.23007C>T (p.Ala7669=)
|
|
|
|
NM_182961.4(SYNE1):c.23020-7A>G
|
|
|
|
NM_182961.4(SYNE1):c.23076C>T (p.Phe7692=)
|
|
|
|
NM_182961.4(SYNE1):c.23091G>A (p.Ser7697=)
|
|
|
|
NM_182961.4(SYNE1):c.23139T>C (p.Arg7713=)
|
rs899533876
|
|
|
NM_182961.4(SYNE1):c.23145+10T>C
|
|
|
|
NM_182961.4(SYNE1):c.23146-10T>C
|
rs2153229720
|
|
|
NM_182961.4(SYNE1):c.23146-7T>C
|
|
|
|
NM_182961.4(SYNE1):c.23146-7del
|
rs770820426
|
|
|
NM_182961.4(SYNE1):c.23146-9T>C
|
|
|
|
NM_182961.4(SYNE1):c.23211C>T (p.Thr7737=)
|
|
|
|
NM_182961.4(SYNE1):c.23214C>A (p.Leu7738=)
|
rs543882781
|
|
|
NM_182961.4(SYNE1):c.23301+13C>A
|
|
|
|
NM_182961.4(SYNE1):c.23301+13C>T
|
|
|
|
NM_182961.4(SYNE1):c.23301+20T>A
|
rs2153229361
|
|
|
NM_182961.4(SYNE1):c.23302-18C>T
|
rs2153180743
|
|
|
NM_182961.4(SYNE1):c.23302-4T>C
|
|
|
|
NM_182961.4(SYNE1):c.23302-5T>C
|
|
|
|
NM_182961.4(SYNE1):c.23367C>T (p.Asn7789=)
|
|
|
|
NM_182961.4(SYNE1):c.23460+10G>T
|
rs376484866
|
|
|
NM_182961.4(SYNE1):c.23460+11C>G
|
|
|
|
NM_182961.4(SYNE1):c.23461-11T>G
|
|
|
|
NM_182961.4(SYNE1):c.23550C>T (p.Ser7850=)
|
|
|
|
NM_182961.4(SYNE1):c.23577G>A (p.Leu7859=)
|
rs2153132926
|
|
|
NM_182961.4(SYNE1):c.23628-16C>T
|
|
|
|
NM_182961.4(SYNE1):c.23628-17C>G
|
|
|
|
NM_182961.4(SYNE1):c.23640G>A (p.Leu7880=)
|
|
|
|
NM_182961.4(SYNE1):c.23650C>T (p.Leu7884=)
|
rs1259207970
|
|
|
NM_182961.4(SYNE1):c.23658C>T (p.Ala7886=)
|
|
|
|
NM_182961.4(SYNE1):c.23727C>G (p.Ala7909=)
|
rs200146485
|
|
|
NM_182961.4(SYNE1):c.23790+11A>G
|
rs1462193161
|
|
|
NM_182961.4(SYNE1):c.23790+9T>C
|
rs2153024919
|
|
|
NM_182961.4(SYNE1):c.23791-12G>A
|
rs754785678
|
|
|
NM_182961.4(SYNE1):c.23791-6del
|
rs757124573
|
|
|
NM_182961.4(SYNE1):c.23841C>G (p.Leu7947=)
|
rs760917529
|
|
|
NM_182961.4(SYNE1):c.23856C>G (p.Val7952=)
|
rs772056716
|
|
|
NM_182961.4(SYNE1):c.2385G>A (p.Gln795=)
|
|
|
|
NM_182961.4(SYNE1):c.23868C>T (p.Asp7956=)
|
|
|
|
NM_182961.4(SYNE1):c.23883C>T (p.Ala7961=)
|
|
|
|
NM_182961.4(SYNE1):c.23892C>T (p.Ala7964=)
|
|
|
|
NM_182961.4(SYNE1):c.2391C>A (p.Thr797=)
|
rs201500601
|
|
|
NM_182961.4(SYNE1):c.23934G>C (p.Arg7978=)
|
|
|
|
NM_182961.4(SYNE1):c.23978+16G>T
|
|
|
|
NM_182961.4(SYNE1):c.23979-7G>A
|
rs376918337
|
|
|
NM_182961.4(SYNE1):c.24000G>A (p.Leu8000=)
|
|
|
|
NM_182961.4(SYNE1):c.24078C>T (p.Ser8026=)
|
rs2061111726
|
|
|
NM_182961.4(SYNE1):c.2409C>T (p.Tyr803=)
|
|
|
|
NM_182961.4(SYNE1):c.24105C>T (p.Ala8035=)
|
rs2061106684
|
|
|
NM_182961.4(SYNE1):c.24114A>G (p.Glu8038=)
|
rs2061105872
|
|
|
NM_182961.4(SYNE1):c.24130-12C>G
|
|
|
|
NM_182961.4(SYNE1):c.24157C>T (p.Leu8053=)
|
rs2152920109
|
|
|
NM_182961.4(SYNE1):c.24174G>A (p.Leu8058=)
|
rs928170278
|
|
|
NM_182961.4(SYNE1):c.24183G>A (p.Lys8061=)
|
rs2152919904
|
|
|
NM_182961.4(SYNE1):c.24225A>T (p.Ala8075=)
|
rs910415
|
|
|
NM_182961.4(SYNE1):c.24249C>T (p.His8083=)
|
|
|
|
NM_182961.4(SYNE1):c.24274C>T (p.Leu8092=)
|
rs2152919136
|
|
|
NM_182961.4(SYNE1):c.24303C>T (p.Arg8101=)
|
|
|
|
NM_182961.4(SYNE1):c.24313-12C>T
|
|
|
|
NM_182961.4(SYNE1):c.24366C>G (p.Val8122=)
|
rs764796963
|
|
|
NM_182961.4(SYNE1):c.24378G>A (p.Glu8126=)
|
rs754573881
|
|
|
NM_182961.4(SYNE1):c.24393C>T (p.Leu8131=)
|
|
|
|
NM_182961.4(SYNE1):c.243C>T (p.Arg81=)
|
|
|
|
NM_182961.4(SYNE1):c.24405A>G (p.Glu8135=)
|
rs2152915378
|
|
|
NM_182961.4(SYNE1):c.24441G>A (p.Lys8147=)
|
rs2060427405
|
|
|
NM_182961.4(SYNE1):c.24444A>G (p.Gln8148=)
|
rs2152914979
|
|
|
NM_182961.4(SYNE1):c.24450+15T>C
|
|
|
|
NM_182961.4(SYNE1):c.24451-20A>T
|
|
|
|
NM_182961.4(SYNE1):c.24495G>A (p.Gln8165=)
|
rs760658485
|
|
|
NM_182961.4(SYNE1):c.2454G>A (p.Glu818=)
|
rs2098714051
|
|
|
NM_182961.4(SYNE1):c.24597C>T (p.Val8199=)
|
|
|
|
NM_182961.4(SYNE1):c.24643-14G>A
|
|
|
|
NM_182961.4(SYNE1):c.24643-20del
|
|
|
|
NM_182961.4(SYNE1):c.24643-7C>T
|
|
|
|
NM_182961.4(SYNE1):c.24681G>A (p.Leu8227=)
|
|
|
|
NM_182961.4(SYNE1):c.24687G>A (p.Leu8229=)
|
rs1418252063
|
|
|
NM_182961.4(SYNE1):c.24708G>A (p.Ser8236=)
|
|
|
|
NM_182961.4(SYNE1):c.24723C>T (p.His8241=)
|
rs141586001
|
|
|
NM_182961.4(SYNE1):c.24777C>G (p.Leu8259=)
|
|
|
|
NM_182961.4(SYNE1):c.24780G>T (p.Ser8260=)
|
rs766320378
|
|
|
NM_182961.4(SYNE1):c.24810A>G (p.Ser8270=)
|
|
|
|
NM_182961.4(SYNE1):c.24843C>A (p.Ile8281=)
|
|
|
|
NM_182961.4(SYNE1):c.24927A>G (p.Glu8309=)
|
|
|
|
NM_182961.4(SYNE1):c.24933G>A (p.Gln8311=)
|
|
|
|
NM_182961.4(SYNE1):c.24976+8A>G
|
|
|
|
NM_182961.4(SYNE1):c.24976+9G>A
|
rs749217089
|
|
|
NM_182961.4(SYNE1):c.24977-15T>C
|
|
|
|
NM_182961.4(SYNE1):c.24977-1706C>T
|
|
|
|
NM_182961.4(SYNE1):c.24977-1711_24977-1709del
|
|
|
|
NM_182961.4(SYNE1):c.24977-1803G>C
|
|
|
|
NM_182961.4(SYNE1):c.24977-4G>A
|
|
|
|
NM_182961.4(SYNE1):c.24978G>T (p.Gly8326=)
|
|
|
|
NM_182961.4(SYNE1):c.24987T>C (p.Ser8329=)
|
rs1562984259
|
|
|
NM_182961.4(SYNE1):c.25011A>G (p.Gln8337=)
|
|
|
|
NM_182961.4(SYNE1):c.25119+18C>A
|
|
|
|
NM_182961.4(SYNE1):c.25120-11T>C
|
|
|
|
NM_182961.4(SYNE1):c.25120-20G>A
|
|
|
|
NM_182961.4(SYNE1):c.25120-9T>C
|
|
|
|
NM_182961.4(SYNE1):c.25129C>T (p.Leu8377=)
|
|
|
|
NM_182961.4(SYNE1):c.25134C>A (p.Gly8378=)
|
rs576598951
|
|
|
NM_182961.4(SYNE1):c.25140C>T (p.Cys8380=)
|
rs1585993590
|
|
|
NM_182961.4(SYNE1):c.25242G>A (p.Thr8414=)
|
|
|
|
NM_182961.4(SYNE1):c.25246+7G>A
|
rs1585989458
|
|
|
NM_182961.4(SYNE1):c.25246+8C>G
|
rs760126474
|
|
|
NM_182961.4(SYNE1):c.25247-16_25247-15dup
|
rs2152800859
|
|
|
NM_182961.4(SYNE1):c.25347G>A (p.Leu8449=)
|
rs1292954995
|
|
|
NM_182961.4(SYNE1):c.25377G>C (p.Thr8459=)
|
rs755748581
|
|
|
NM_182961.4(SYNE1):c.25383G>A (p.Glu8461=)
|
rs2152799773
|
|
|
NM_182961.4(SYNE1):c.25387T>C (p.Leu8463=)
|
|
|
|
NM_182961.4(SYNE1):c.25434C>T (p.Ile8478=)
|
|
|
|
NM_182961.4(SYNE1):c.25458+13T>C
|
|
|
|
NM_182961.4(SYNE1):c.25459-8C>A
|
|
|
|
NM_182961.4(SYNE1):c.25464C>G (p.Leu8488=)
|
rs2152753360
|
|
|
NM_182961.4(SYNE1):c.25509T>C (p.Asn8503=)
|
|
|
|
NM_182961.4(SYNE1):c.25542C>T (p.Ser8514=)
|
|
|
|
NM_182961.4(SYNE1):c.25659+16G>C
|
|
|
|
NM_182961.4(SYNE1):c.25659+18C>G
|
|
|
|
NM_182961.4(SYNE1):c.25660-11_25660-10del
|
rs1585772300
|
|
|
NM_182961.4(SYNE1):c.25660-4G>A
|
|
|
|
NM_182961.4(SYNE1):c.25660-8T>C
|
rs371504964
|
|
|
NM_182961.4(SYNE1):c.2569-14T>G
|
rs2154258222
|
|
|
NM_182961.4(SYNE1):c.2569-19G>C
|
|
|
|
NM_182961.4(SYNE1):c.25704C>T (p.Asn8568=)
|
rs559811773
|
|
|
NM_182961.4(SYNE1):c.2572C>T (p.Leu858=)
|
|
|
|
NM_182961.4(SYNE1):c.25731C>G (p.Val8577=)
|
rs2152737515
|
|
|
NM_182961.4(SYNE1):c.25746C>T (p.Asn8582=)
|
rs774875575
|
|
|
NM_182961.4(SYNE1):c.25758G>A (p.Glu8586=)
|
|
|
|
NM_182961.4(SYNE1):c.25788+18dup
|
rs1187750937
|
|
|
NM_182961.4(SYNE1):c.25789-10G>A
|
rs2056337983
|
|
|
NM_182961.4(SYNE1):c.25807T>C (p.Leu8603=)
|
|
|
|
NM_182961.4(SYNE1):c.25866T>C (p.Asn8622=)
|
|
|
|
NM_182961.4(SYNE1):c.25935C>T (p.Leu8645=)
|
|
|
|
NM_182961.4(SYNE1):c.2598G>A (p.Lys866=)
|
rs1288453744
|
|
|
NM_182961.4(SYNE1):c.25992T>C (p.Ser8664=)
|
rs2152718592
|
|
|
NM_182961.4(SYNE1):c.25C>A (p.Arg9=)
|
|
|
|
NM_182961.4(SYNE1):c.26001+11A>T
|
|
|
|
NM_182961.4(SYNE1):c.26001+7_26001+8delinsTC
|
rs2152718365
|
|
|
NM_182961.4(SYNE1):c.26002-17A>G
|
|
|
|
NM_182961.4(SYNE1):c.26002-7C>T
|
|
|
|
NM_182961.4(SYNE1):c.26040C>T (p.Thr8680=)
|
|
|
|
NM_182961.4(SYNE1):c.26043A>G (p.Ser8681=)
|
rs1657226622
|
|
|
NM_182961.4(SYNE1):c.2604C>A (p.Thr868=)
|
|
|
|
NM_182961.4(SYNE1):c.26055T>C (p.Ser8685=)
|
|
|
|
NM_182961.4(SYNE1):c.26094+17C>T
|
|
|
|
NM_182961.4(SYNE1):c.26094+18G>A
|
|
|
|
NM_182961.4(SYNE1):c.26095-15G>A
|
|
|
|
NM_182961.4(SYNE1):c.26100A>G (p.Arg8700=)
|
rs1554372048
|
|
|
NM_182961.4(SYNE1):c.26148T>C (p.His8716=)
|
|
|
|
NM_182961.4(SYNE1):c.26153+18T>A
|
rs1057523744
|
|
|
NM_182961.4(SYNE1):c.26153+8C>T
|
|
|
|
NM_182961.4(SYNE1):c.26154-10C>A
|
rs749838365
|
|
|
NM_182961.4(SYNE1):c.26154-10C>T
|
rs749838365
|
|
|
NM_182961.4(SYNE1):c.26154-16T>A
|
|
|
|
NM_182961.4(SYNE1):c.26154-9T>C
|
|
|
|
NM_182961.4(SYNE1):c.26172C>T (p.Ser8724=)
|
|
|
|
NM_182961.4(SYNE1):c.26241A>G (p.Ala8747=)
|
rs2152525767
|
|
|
NM_182961.4(SYNE1):c.26325C>G (p.Ala8775=)
|
|
|
|
NM_182961.4(SYNE1):c.26376T>C (p.Asn8792=)
|
rs2152524493
|
|
|
NM_182961.4(SYNE1):c.2688G>A (p.Arg896=)
|
rs766583731
|
|
|
NM_182961.4(SYNE1):c.2727+14C>T
|
|
|
|
NM_182961.4(SYNE1):c.2772C>T (p.Thr924=)
|
|
|
|
NM_182961.4(SYNE1):c.2835T>A (p.Ile945=)
|
|
|
|
NM_182961.4(SYNE1):c.2859G>A (p.Lys953=)
|
rs2098689434
|
|
|
NM_182961.4(SYNE1):c.285A>G (p.Ala95=)
|
rs2154348348
|
|
|
NM_182961.4(SYNE1):c.2871G>A (p.Glu957=)
|
|
|
|
NM_182961.4(SYNE1):c.2881C>A (p.Arg961=)
|
|
|
|
NM_182961.4(SYNE1):c.2886A>G (p.Arg962=)
|
|
|
|
NM_182961.4(SYNE1):c.288C>G (p.Leu96=)
|
|
|
|
NM_182961.4(SYNE1):c.2893-12C>G
|
|
|
|
NM_182961.4(SYNE1):c.2893-15C>T
|
|
|
|
NM_182961.4(SYNE1):c.2893-6T>C
|
rs886042945
|
|
|
NM_182961.4(SYNE1):c.2946T>C (p.Cys982=)
|
|
|
|
NM_182961.4(SYNE1):c.2958C>T (p.Thr986=)
|
|
|
|
NM_182961.4(SYNE1):c.297C>T (p.Leu99=)
|
rs1355556442
|
|
|
NM_182961.4(SYNE1):c.2988G>C (p.Gly996=)
|
|
|
|
NM_182961.4(SYNE1):c.2991G>C (p.Leu997=)
|
|
|
|
NM_182961.4(SYNE1):c.3004C>A (p.Arg1002=)
|
rs1264723962
|
|
|
NM_182961.4(SYNE1):c.3009G>A (p.Lys1003=)
|
|
|
|
NM_182961.4(SYNE1):c.3027+18G>A
|
|
|
|
NM_182961.4(SYNE1):c.310-18T>G
|
rs1353458809
|
|
|
NM_182961.4(SYNE1):c.310-495A>G
|
|
|
|
NM_182961.4(SYNE1):c.310-498_310-497del
|
|
|
|
NM_182961.4(SYNE1):c.310-506C>T
|
|
|
|
NM_182961.4(SYNE1):c.310-8T>C
|
|
|
|
NM_182961.4(SYNE1):c.3186+18C>T
|
|
|
|
NM_182961.4(SYNE1):c.3186+18del
|
rs2154250649
|
|
|
NM_182961.4(SYNE1):c.3186+20A>G
|
rs2154250647
|
|
|
NM_182961.4(SYNE1):c.3186+9C>A
|
|
|
|
NM_182961.4(SYNE1):c.3243C>T (p.Ile1081=)
|
|
|
|
NM_182961.4(SYNE1):c.3258G>A (p.Val1086=)
|
|
|
|
NM_182961.4(SYNE1):c.3324C>A (p.Leu1108=)
|
rs1392215550
|
|
|
NM_182961.4(SYNE1):c.3395+20C>G
|
|
|
|
NM_182961.4(SYNE1):c.3395+7T>C
|
|
|
|
NM_182961.4(SYNE1):c.339T>C (p.Asp113=)
|
|
|
|
NM_182961.4(SYNE1):c.3504+13T>C
|
|
|
|
NM_182961.4(SYNE1):c.3504+9A>G
|
|
|
|
NM_182961.4(SYNE1):c.3660G>A (p.Leu1220=)
|
|
|
|
NM_182961.4(SYNE1):c.3669+13C>T
|
|
|
|
NM_182961.4(SYNE1):c.3669+20T>G
|
|
|
|
NM_182961.4(SYNE1):c.3670-14T>C
|
rs780827995
|
|
|
NM_182961.4(SYNE1):c.3670-17T>C
|
|
|
|
NM_182961.4(SYNE1):c.3810A>G (p.Glu1270=)
|
rs2154239316
|
|
|
NM_182961.4(SYNE1):c.3837+17C>A
|
|
|
|
NM_182961.4(SYNE1):c.384C>T (p.Thr128=)
|
rs773315965
|
|
|
NM_182961.4(SYNE1):c.3852G>A (p.Arg1284=)
|
|
|
|
NM_182961.4(SYNE1):c.3873T>C (p.Asp1291=)
|
rs778275142
|
|
|
NM_182961.4(SYNE1):c.3912G>C (p.Gly1304=)
|
|
|
|
NM_182961.4(SYNE1):c.393A>C (p.Leu131=)
|
rs139291592
|
|
|
NM_182961.4(SYNE1):c.393A>G (p.Leu131=)
|
rs139291592
|
|
|
NM_182961.4(SYNE1):c.4008+18G>A
|
rs2154232610
|
|
|
NM_182961.4(SYNE1):c.4008+20G>A
|
|
|
|
NM_182961.4(SYNE1):c.4009-19T>C
|
|
|
|
NM_182961.4(SYNE1):c.402+16del
|
rs1459487255
|
|
|
NM_182961.4(SYNE1):c.402+18C>A
|
|
|
|
NM_182961.4(SYNE1):c.403-16G>A
|
|
|
|
NM_182961.4(SYNE1):c.408A>G (p.Glu136=)
|
|
|
|
NM_182961.4(SYNE1):c.4098C>T (p.Phe1366=)
|
|
|
|
NM_182961.4(SYNE1):c.4149+11del
|
|
|
|
NM_182961.4(SYNE1):c.4149+14C>T
|
|
|
|
NM_182961.4(SYNE1):c.4149+9T>C
|
rs1554706986
|
|
|
NM_182961.4(SYNE1):c.4150-20G>A
|
|
|
|
NM_182961.4(SYNE1):c.4150-20G>T
|
rs372652425
|
|
|
NM_182961.4(SYNE1):c.4162C>A (p.Arg1388=)
|
rs34028822
|
|
|
NM_182961.4(SYNE1):c.4218A>C (p.Ile1406=)
|
rs368727420
|
|
|
NM_182961.4(SYNE1):c.4218A>T (p.Ile1406=)
|
|
|
|
NM_182961.4(SYNE1):c.4221G>A (p.Pro1407=)
|
rs200370595
|
|
|
NM_182961.4(SYNE1):c.4239G>A (p.Lys1413=)
|
rs895948901
|
|
|
NM_182961.4(SYNE1):c.4257G>A (p.Gln1419=)
|
|
|
|
NM_182961.4(SYNE1):c.4275A>G (p.Glu1425=)
|
rs2154214696
|
|
|
NM_182961.4(SYNE1):c.42C>T (p.Ile14=)
|
|
|
|
NM_182961.4(SYNE1):c.4305A>G (p.Glu1435=)
|
rs2098470446
|
|
|
NM_182961.4(SYNE1):c.4310+7G>C
|
rs1564002853
|
|
|
NM_182961.4(SYNE1):c.4413C>T (p.Ala1471=)
|
|
|
|
NM_182961.4(SYNE1):c.4425G>A (p.Ser1475=)
|
|
|
|
NM_182961.4(SYNE1):c.4461+12A>C
|
|
|
|
NM_182961.4(SYNE1):c.4461+18_4461+20del
|
|
|
|
NM_182961.4(SYNE1):c.4462-10T>C
|
|
|
|
NM_182961.4(SYNE1):c.4521C>A (p.Ala1507=)
|
|
|
|
NM_182961.4(SYNE1):c.453C>T (p.Ser151=)
|
rs749920635
|
|
|
NM_182961.4(SYNE1):c.4548T>C (p.Thr1516=)
|
rs776593228
|
|
|
NM_182961.4(SYNE1):c.4689+12T>A
|
|
|
|
NM_182961.4(SYNE1):c.4689+13C>G
|
|
|
|
NM_182961.4(SYNE1):c.4689+15A>G
|
|
|
|
NM_182961.4(SYNE1):c.4689+16C>G
|
|
|
|
NM_182961.4(SYNE1):c.4690-14C>T
|
|
|
|
NM_182961.4(SYNE1):c.4690-15G>A
|
rs2154201104
|
|
|
NM_182961.4(SYNE1):c.4782A>G (p.Glu1594=)
|
|
|
|
NM_182961.4(SYNE1):c.4788+19A>G
|
rs764033698
|
|
|
NM_182961.4(SYNE1):c.4788+20T>C
|
|
|
|
NM_182961.4(SYNE1):c.4789-10C>T
|
|
|
|
NM_182961.4(SYNE1):c.4789-13G>C
|
|
|
|
NM_182961.4(SYNE1):c.4789-5_4789-3del
|
rs1592495200
|
|
|
NM_182961.4(SYNE1):c.4789-6T>C
|
|
|
|
NM_182961.4(SYNE1):c.4789-9T>G
|
|
|
|
NM_182961.4(SYNE1):c.4824G>C (p.Ala1608=)
|
|
|
|
NM_182961.4(SYNE1):c.4890G>A (p.Ala1630=)
|
|
|
|
NM_182961.4(SYNE1):c.4894C>T (p.Leu1632=)
|
|
|
|
NM_182961.4(SYNE1):c.4902G>A (p.Gln1634=)
|
rs886044228
|
|
|
NM_182961.4(SYNE1):c.4923G>A (p.Arg1641=)
|
|
|
|
NM_182961.4(SYNE1):c.4944G>A (p.Thr1648=)
|
|
|
|
NM_182961.4(SYNE1):c.4959G>C (p.Leu1653=)
|
|
|
|
NM_182961.4(SYNE1):c.4976+10A>G
|
|
|
|
NM_182961.4(SYNE1):c.4977-18G>T
|
|
|
|
NM_182961.4(SYNE1):c.5019G>A (p.Arg1673=)
|
|
|
|
NM_182961.4(SYNE1):c.5058T>C (p.Ser1686=)
|
|
|
|
NM_182961.4(SYNE1):c.5070C>A (p.Val1690=)
|
rs146789107
|
|
|
NM_182961.4(SYNE1):c.5070C>G (p.Val1690=)
|
rs146789107
|
|
|
NM_182961.4(SYNE1):c.5100+19G>A
|
rs901073481
|
|
|
NM_182961.4(SYNE1):c.5101-10T>C
|
|
|
|
NM_182961.4(SYNE1):c.5101-8T>C
|
|
|
|
NM_182961.4(SYNE1):c.5412T>A (p.Thr1804=)
|
rs2154186762
|
|
|
NM_182961.4(SYNE1):c.5421+8G>A
|
rs750258642
|
|
|
NM_182961.4(SYNE1):c.5421+9del
|
rs774622835
|
|
|
NM_182961.4(SYNE1):c.5422-7C>G
|
|
|
|
NM_182961.4(SYNE1):c.5424C>T (p.Asp1808=)
|
|
|
|
NM_182961.4(SYNE1):c.5622C>G (p.Leu1874=)
|
rs1481434570
|
|
|
NM_182961.4(SYNE1):c.5655C>G (p.Arg1885=)
|
|
|
|
NM_182961.4(SYNE1):c.5706T>C (p.Ser1902=)
|
|
|
|
NM_182961.4(SYNE1):c.5754A>G (p.Ala1918=)
|
rs1350643988
|
|
|
NM_182961.4(SYNE1):c.5808T>C (p.His1936=)
|
|
|
|
NM_182961.4(SYNE1):c.581+13A>G
|
|
|
|
NM_182961.4(SYNE1):c.581+7A>T
|
|
|
|
NM_182961.4(SYNE1):c.5811G>A (p.Leu1937=)
|
|
|
|
NM_182961.4(SYNE1):c.582-7C>T
|
rs1328050233
|
|
|
NM_182961.4(SYNE1):c.5874G>A (p.Glu1958=)
|
rs2098158523
|
|
|
NM_182961.4(SYNE1):c.5883G>A (p.Arg1961=)
|
rs997152435
|
|
|
NM_182961.4(SYNE1):c.5910G>A (p.Gln1970=)
|
|
|
|
NM_182961.4(SYNE1):c.5935T>C (p.Leu1979=)
|
rs2098157630
|
|
|
NM_182961.4(SYNE1):c.5943A>G (p.Lys1981=)
|
rs1195163643
|
|
|
NM_182961.4(SYNE1):c.5946A>G (p.Ala1982=)
|
|
|
|
NM_182961.4(SYNE1):c.6051-13T>C
|
|
|
|
NM_182961.4(SYNE1):c.6051-18T>C
|
|
|
|
NM_182961.4(SYNE1):c.6105A>G (p.Leu2035=)
|
|
|
|
NM_182961.4(SYNE1):c.6150A>C (p.Val2050=)
|
|
|
|
NM_182961.4(SYNE1):c.615G>A (p.Lys205=)
|
rs1594201432
|
|
|
NM_182961.4(SYNE1):c.6162T>A (p.Pro2054=)
|
rs2154176982
|
|
|
NM_182961.4(SYNE1):c.6225T>C (p.His2075=)
|
|
|
|
NM_182961.4(SYNE1):c.6234G>A (p.Gln2078=)
|
|
|
|
NM_182961.4(SYNE1):c.624A>G (p.Arg208=)
|
rs2154331618
|
|
|
NM_182961.4(SYNE1):c.6288A>T (p.Ser2096=)
|
rs2154170171
|
|
|
NM_182961.4(SYNE1):c.6294A>G (p.Val2098=)
|
|
|
|
NM_182961.4(SYNE1):c.6357G>A (p.Glu2119=)
|
|
|
|
NM_182961.4(SYNE1):c.6432C>T (p.Asn2144=)
|
|
|
|
NM_182961.4(SYNE1):c.6480C>T (p.His2160=)
|
|
|
|
NM_182961.4(SYNE1):c.6540+14del
|
|
|
|
NM_182961.4(SYNE1):c.6540+18G>A
|
|
|
|
NM_182961.4(SYNE1):c.6555T>C (p.Leu2185=)
|
|
|
|
NM_182961.4(SYNE1):c.6586C>T (p.Leu2196=)
|
|
|
|
NM_182961.4(SYNE1):c.6606A>G (p.Val2202=)
|
rs2154165470
|
|
|
NM_182961.4(SYNE1):c.6642C>T (p.Asn2214=)
|
|
|
|
NM_182961.4(SYNE1):c.6645C>T (p.Asn2215=)
|
rs1193871694
|
|
|
NM_182961.4(SYNE1):c.669A>G (p.Glu223=)
|
rs1294047431
|
|
|
NM_182961.4(SYNE1):c.67+8G>A
|
|
|
|
NM_182961.4(SYNE1):c.6723+20A>G
|
|
|
|
NM_182961.4(SYNE1):c.672G>A (p.Leu224=)
|
rs2099051768
|
|
|
NM_182961.4(SYNE1):c.6745T>C (p.Leu2249=)
|
rs1563754171
|
|
|
NM_182961.4(SYNE1):c.6795T>C (p.Thr2265=)
|
rs2154157073
|
|
|
NM_182961.4(SYNE1):c.6813G>C (p.Pro2271=)
|
|
|
|
NM_182961.4(SYNE1):c.6825+19C>G
|
|
|
|
NM_182961.4(SYNE1):c.6826-7T>C
|
|
|
|
NM_182961.4(SYNE1):c.6894C>A (p.Thr2298=)
|
rs1554629711
|
|
|
NM_182961.4(SYNE1):c.6897G>A (p.Leu2299=)
|
|
|
|
NM_182961.4(SYNE1):c.6921A>C (p.Thr2307=)
|
rs898678358
|
|
|
NM_182961.4(SYNE1):c.696C>A (p.Gly232=)
|
|
|
|
NM_182961.4(SYNE1):c.6975A>G (p.Glu2325=)
|
|
|
|
NM_182961.4(SYNE1):c.6978G>A (p.Ser2326=)
|
|
|
|
NM_182961.4(SYNE1):c.7017G>A (p.Leu2339=)
|
|
|
|
NM_182961.4(SYNE1):c.7029+18A>G
|
|
|
|
NM_182961.4(SYNE1):c.7030-14C>G
|
|
|
|
NM_182961.4(SYNE1):c.7032T>C (p.Asp2344=)
|
|
|
|
NM_182961.4(SYNE1):c.7041A>G (p.Lys2347=)
|
rs1035633192
|
|
|
NM_182961.4(SYNE1):c.7104C>G (p.Arg2368=)
|
|
|
|
NM_182961.4(SYNE1):c.7110C>T (p.Tyr2370=)
|
|
|
|
NM_182961.4(SYNE1):c.7131C>T (p.Ser2377=)
|
|
|
|
NM_182961.4(SYNE1):c.7237+14G>A
|
|
|
|
NM_182961.4(SYNE1):c.7237+17del
|
|
|
|
NM_182961.4(SYNE1):c.7238-9T>C
|
rs1591882273
|
|
|
NM_182961.4(SYNE1):c.723T>C (p.Asp241=)
|
|
|
|
NM_182961.4(SYNE1):c.7284A>C (p.Ala2428=)
|
rs886043162
|
|
|
NM_182961.4(SYNE1):c.7296A>G (p.Ser2432=)
|
|
|
|
NM_182961.4(SYNE1):c.7350+15A>T
|
|
|
|
NM_182961.4(SYNE1):c.735C>T (p.Ile245=)
|
|
|
|
NM_182961.4(SYNE1):c.7365A>G (p.Ser2455=)
|
rs761520305
|
|
|
NM_182961.4(SYNE1):c.7488T>C (p.Phe2496=)
|
|
|
|
NM_182961.4(SYNE1):c.7494A>G (p.Ala2498=)
|
|
|
|
NM_182961.4(SYNE1):c.7556+15C>T
|
|
|
|
NM_182961.4(SYNE1):c.7557-18G>A
|
|
|
|
NM_182961.4(SYNE1):c.7569G>A (p.Gln2523=)
|
|
|
|
NM_182961.4(SYNE1):c.756C>A (p.Ile252=)
|
rs1241383804
|
|
|
NM_182961.4(SYNE1):c.7593C>T (p.Ile2531=)
|
rs201679896
|
|
|
NM_182961.4(SYNE1):c.7707T>C (p.Ala2569=)
|
|
|
|
NM_182961.4(SYNE1):c.7713-10T>C
|
rs2154134126
|
|
|
NM_182961.4(SYNE1):c.7713-11C>T
|
rs201131946
|
|
|
NM_182961.4(SYNE1):c.7713-12_7713-11del
|
|
|
|
NM_182961.4(SYNE1):c.7713-12_7713-11insTTTTTTTT
|
|
|
|
NM_182961.4(SYNE1):c.7713-13_7713-12insTTTTTTC
|
|
|
|
NM_182961.4(SYNE1):c.7713-17_7713-13dup
|
|
|
|
NM_182961.4(SYNE1):c.7713-17_7713-16insTTTTTTC
|
|
|
|
NM_182961.4(SYNE1):c.7713-18_7713-17insTTTTTC
|
rs1554611398
|
|
|
NM_182961.4(SYNE1):c.7713-18_7713-17insTTTTTTC
|
rs746802599
|
|
|
NM_182961.4(SYNE1):c.7713-18_7713-17insTTTTTTTC
|
rs2097634535
|
|
|
NM_182961.4(SYNE1):c.7713-19_7713-18insTTTTTTC
|
rs781073860
|
|
|
NM_182961.4(SYNE1):c.7713-23_7713-13dup
|
rs756232172
|
|
|
NM_182961.4(SYNE1):c.7713-4T>A
|
rs571742202
|
|
|
NM_182961.4(SYNE1):c.7713-5T>C
|
rs893217390
|
|
|
NM_182961.4(SYNE1):c.7719T>G (p.Ser2573=)
|
|
|
|
NM_182961.4(SYNE1):c.778+12A>G
|
|
|
|
NM_182961.4(SYNE1):c.778+13T>G
|
rs775117869
|
|
|
NM_182961.4(SYNE1):c.778+17T>C
|
rs2154331395
|
|
|
NM_182961.4(SYNE1):c.779-11T>C
|
|
|
|
NM_182961.4(SYNE1):c.779-17C>A
|
|
|
|
NM_182961.4(SYNE1):c.7866C>G (p.Ala2622=)
|
|
|
|
NM_182961.4(SYNE1):c.7965G>A (p.Gly2655=)
|
|
|
|
NM_182961.4(SYNE1):c.7971A>G (p.Lys2657=)
|
|
|
|
NM_182961.4(SYNE1):c.7977C>A (p.Thr2659=)
|
rs1032522783
|
|
|
NM_182961.4(SYNE1):c.7980G>A (p.Leu2660=)
|
|
|
|
NM_182961.4(SYNE1):c.8004+16G>A
|
|
|
|
NM_182961.4(SYNE1):c.8004+8C>T
|
|
|
|
NM_182961.4(SYNE1):c.8025T>G (p.Gly2675=)
|
|
|
|
NM_182961.4(SYNE1):c.8172T>C (p.Ala2724=)
|
|
|
|
NM_182961.4(SYNE1):c.8177+12A>G
|
|
|
|
NM_182961.4(SYNE1):c.8214T>C (p.Tyr2738=)
|
rs561155086
|
|
|
NM_182961.4(SYNE1):c.8310C>T (p.Phe2770=)
|
rs749172868
|
|
|
NM_182961.4(SYNE1):c.8328C>G (p.Leu2776=)
|
|
|
|
NM_182961.4(SYNE1):c.8394G>A (p.Arg2798=)
|
rs1212269934
|
|
|
NM_182961.4(SYNE1):c.8412A>G (p.Thr2804=)
|
rs1352615188
|
|
|
NM_182961.4(SYNE1):c.8415G>A (p.Glu2805=)
|
rs200537411
|
|
|
NM_182961.4(SYNE1):c.8488-15T>C
|
rs754541640
|
|
|
NM_182961.4(SYNE1):c.8559A>G (p.Thr2853=)
|
rs2154124074
|
|
|
NM_182961.4(SYNE1):c.8580G>A (p.Lys2860=)
|
rs2154124018
|
|
|
NM_182961.4(SYNE1):c.8595G>C (p.Arg2865=)
|
|
|
|
NM_182961.4(SYNE1):c.8640A>G (p.Leu2880=)
|
|
|
|
NM_182961.4(SYNE1):c.8652+9A>T
|
|
|
|
NM_182961.4(SYNE1):c.8653-17G>A
|
|
|
|
NM_182961.4(SYNE1):c.8706G>A (p.Ser2902=)
|
|
|
|
NM_182961.4(SYNE1):c.870T>C (p.Thr290=)
|
|
|
|
NM_182961.4(SYNE1):c.8715C>T (p.Pro2905=)
|
|
|
|
NM_182961.4(SYNE1):c.8730C>T (p.Asn2910=)
|
rs1591551475
|
|
|
NM_182961.4(SYNE1):c.8754C>T (p.Leu2918=)
|
|
|
|
NM_182961.4(SYNE1):c.8838C>T (p.Asn2946=)
|
rs2154115463
|
|
|
NM_182961.4(SYNE1):c.888+9T>C
|
|
|
|
NM_182961.4(SYNE1):c.8883A>G (p.Gln2961=)
|
|
|
|
NM_182961.4(SYNE1):c.8893C>T (p.Leu2965=)
|
|
|
|
NM_182961.4(SYNE1):c.9006A>G (p.Gly3002=)
|
|
|
|
NM_182961.4(SYNE1):c.9147-15G>T
|
|
|
|
NM_182961.4(SYNE1):c.9177G>A (p.Gln3059=)
|
|
|
|
NM_182961.4(SYNE1):c.9183A>G (p.Lys3061=)
|
|
|
|
NM_182961.4(SYNE1):c.9243T>A (p.Val3081=)
|
|
|
|
NM_182961.4(SYNE1):c.9261C>A (p.Thr3087=)
|
|
|
|
NM_182961.4(SYNE1):c.9309T>C (p.Ser3103=)
|
|
|
|
NM_182961.4(SYNE1):c.9324+20A>T
|
|
|
|
NM_182961.4(SYNE1):c.9324+7G>T
|
rs2097282528
|
|
|
NM_182961.4(SYNE1):c.9325-10T>C
|
|
|
|
NM_182961.4(SYNE1):c.9325-4A>G
|
rs1444975317
|
|
|
NM_182961.4(SYNE1):c.9357C>T (p.His3119=)
|
|
|
|
NM_182961.4(SYNE1):c.9375G>C (p.Leu3125=)
|
rs376622495
|
|
|
NM_182961.4(SYNE1):c.939+14A>T
|
rs531123529
|
|
|
NM_182961.4(SYNE1):c.939+15A>C
|
|
|
|
NM_182961.4(SYNE1):c.9411A>G (p.Lys3137=)
|
rs975537862
|
|
|
NM_182961.4(SYNE1):c.9417A>G (p.Lys3139=)
|
|
|
|
NM_182961.4(SYNE1):c.9450A>G (p.Ala3150=)
|
|
|
|
NM_182961.4(SYNE1):c.9480T>C (p.Asn3160=)
|
|
|
|
NM_182961.4(SYNE1):c.9483C>T (p.Leu3161=)
|
rs778123025
|
|
|
NM_182961.4(SYNE1):c.9507+7A>G
|
|
|
|
NM_182961.4(SYNE1):c.9508-12A>G
|
|
|
|
NM_182961.4(SYNE1):c.9508-16A>G
|
|
|
|
NM_182961.4(SYNE1):c.9508-20C>T
|
|
|
|
NM_182961.4(SYNE1):c.9609C>T (p.Leu3203=)
|
rs1591297339
|
|
|
NM_182961.4(SYNE1):c.9612T>C (p.Tyr3204=)
|
rs1030698096
|
|
|
NM_182961.4(SYNE1):c.9645G>A (p.Lys3215=)
|
|
|
|
NM_182961.4(SYNE1):c.9651+15T>G
|
|
|
|
NM_182961.4(SYNE1):c.9652-15G>T
|
|
|
|
NM_182961.4(SYNE1):c.9652-18C>T
|
|
|
|
NM_182961.4(SYNE1):c.9652-8C>T
|
|
|
|
NM_182961.4(SYNE1):c.9697C>T (p.Leu3233=)
|
|
|
|
NM_182961.4(SYNE1):c.9715C>G (p.Gln3239Glu)
|
rs149901087
|
|
|
NM_182961.4(SYNE1):c.9744G>A (p.Lys3248=)
|
rs2097133437
|
|
|
NM_182961.4(SYNE1):c.9765G>T (p.Ser3255=)
|
rs759631028
|
|
|
NM_182961.4(SYNE1):c.9808-16T>C
|
|
|
|
NM_182961.4(SYNE1):c.9822A>G (p.Arg3274=)
|
|
|
|
NM_182961.4(SYNE1):c.9864G>A (p.Gly3288=)
|
rs1591250414
|
|
|
NM_182961.4(SYNE1):c.9864G>C (p.Gly3288=)
|
|
|
|
NM_182961.4(SYNE1):c.9897G>A (p.Ala3299=)
|
rs184006845
|
|
|
NM_182961.4(SYNE1):c.9903C>T (p.His3301=)
|
rs767709050
|
|
|
NM_182961.4(SYNE1):c.9966G>A (p.Lys3322=)
|
|
|
|
NM_182961.4(SYNE1):c.9978A>G (p.Leu3326=)
|
rs1286630366
|
|
|
NM_182961.4(SYNE1):c.9990A>G (p.Lys3330=)
|
|
|