NM_006393.3(NEBL):c.1008+5A>G
|
rs703089
|
0.98186
|
NM_000335.5(SCN5A):c.3183A>G (p.Glu1061=)
|
rs7430407
|
0.90302
|
NM_000335.5(SCN5A):c.87A>G (p.Ala29=)
|
rs6599230
|
0.80621
|
NM_006440.5(TXNRD2):c.1109T>C (p.Ile370Thr)
|
rs1139793
|
0.77627
|
NM_001134363.3(RBM20):c.3667G>C (p.Glu1223Gln)
|
rs942077
|
0.74386
|
NM_014391.2(ANKRD1):c.-145T>C
|
rs10881855
|
0.67382
|
NM_006393.3(NEBL):c.480+3069G>A
|
rs3858198
|
0.55160
|
NM_006440.5(TXNRD2):c.177C>T (p.Ala59=)
|
rs5748470
|
0.50192
|
NM_000335.5(SCN5A):c.5454T>C (p.Asp1818=)
|
rs1805126
|
0.44288
|
NM_006393.3(NEBL):c.1671+9T>C
|
rs10491056
|
0.42572
|
NM_014391.3(ANKRD1):c.*59A>G
|
rs3939
|
0.38933
|
NM_006440.5(TXNRD2):c.196G>T (p.Ala66Ser)
|
rs5748469
|
0.35646
|
NM_001318895.3(FHL2):c.688+12G>T
|
rs2278502
|
0.31336
|
NM_006440.5(TXNRD2):c.1206G>A (p.Pro402=)
|
rs1139795
|
0.27722
|
NM_006440.5(TXNRD2):c.774+14C>A
|
rs12169091
|
0.25670
|
NM_006440.5(TXNRD2):c.1086+17G>A
|
rs2239893
|
0.25106
|
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg)
|
rs1805124
|
0.24768
|
NM_170707.4(LMNA):c.1338T>C (p.Asp446=)
|
rs505058
|
0.23806
|
NM_006393.3(NEBL):c.2031G>A (p.Arg677=)
|
rs1006363
|
0.22278
|
NM_006440.5(TXNRD2):c.103+340G>A
|
rs2020917
|
0.21780
|
NM_001134363.3(RBM20):c.1527+8C>T
|
rs7077757
|
0.21586
|
NM_001318895.3(FHL2):c.689-12C>G
|
rs2244182
|
0.21176
|
NM_001134363.3(RBM20):c.90G>A (p.Arg30=)
|
rs35141404
|
0.20903
|
NM_006440.5(TXNRD2):c.246C>T (p.Leu82=)
|
rs11541479
|
0.20721
|
NM_170707.4(LMNA):c.1698C>T (p.His566=)
|
rs4641
|
0.20715
|
NM_170707.4(LMNA):c.861T>C (p.Ala287=)
|
rs538089
|
0.18331
|
NM_170707.4(LMNA):c.1157+16G>A
|
rs534807
|
0.18318
|
NM_000335.5(SCN5A):c.1141-3C>A
|
rs41312433
|
0.16821
|
NM_001318895.3(FHL2):c.819C>T (p.Pro273=)
|
rs11124029
|
0.16120
|
NM_006440.5(TXNRD2):c.662+14G>A
|
rs9606176
|
0.13466
|
NM_006393.3(NEBL):c.2997A>G (p.Thr999=)
|
rs2296614
|
0.08806
|
NM_001318895.3(FHL2):c.804C>T (p.Asp268=)
|
rs3087523
|
0.08785
|
NM_006440.5(TXNRD2):c.1347+20A>G
|
rs113605285
|
0.08271
|
NM_003476.5(CSRP3):c.336G>A (p.Ala112=)
|
rs13451
|
0.07238
|
NM_000335.5(SCN5A):c.5841C>T (p.Ile1947=)
|
rs13324293
|
0.06728
|
NM_006393.3(NEBL):c.1051A>G (p.Met351Val)
|
rs4025981
|
0.05741
|
NM_006393.3(NEBL):c.1962T>A (p.Asn654Lys)
|
rs4748728
|
0.05648
|
NM_006393.3(NEBL):c.1132G>C (p.Asp378His)
|
rs41277370
|
0.05503
|
NM_000335.5(SCN5A):c.4845C>T (p.Phe1615=)
|
rs41315495
|
0.05498
|
NM_170707.4(LMNA):c.810+13G>T
|
rs11264444
|
0.05317
|
NM_000335.5(SCN5A):c.2788-6C>T
|
rs41260344
|
0.04241
|
NM_006440.5(TXNRD2):c.662+13C>T
|
rs45550336
|
0.03292
|
NM_006440.5(TXNRD2):c.526G>C (p.Glu176Gln)
|
rs61736929
|
0.02373
|
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr)
|
rs7626962
|
0.02208
|
NM_000335.5(SCN5A):c.2263-18T>C
|
rs9835588
|
0.02184
|
NM_006440.5(TXNRD2):c.374+13C>T
|
rs9606178
|
0.02112
|
NM_000335.5(SCN5A):c.482+16G>C
|
rs41312949
|
0.01894
|
NM_014391.3(ANKRD1):c.346-15T>A
|
rs11595794
|
0.01849
|
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser)
|
rs146934311
|
0.01744
|
NM_006440.5(TXNRD2):c.1099C>T (p.Leu367=)
|
rs35544159
|
0.01575
|
NM_001318895.3(FHL2):c.530G>A (p.Arg177Gln)
|
rs113188481
|
0.01458
|
NM_001318895.3(FHL2):c.120C>T (p.Cys40=)
|
rs11537578
|
0.01197
|
NM_006440.5(TXNRD2):c.1445+18C>T
|
rs41431147
|
0.01166
|
NM_006393.3(NEBL):c.656C>A (p.Ala219Asp)
|
rs2296610
|
0.01104
|
NM_014391.3(ANKRD1):c.*366G>A
|
rs17102330
|
0.01092
|
NM_000116.5(TAFAZZIN):c.-88G>C
|
rs113130344
|
0.01021
|
NM_001927.4(DES):c.1375G>A (p.Val459Ile)
|
rs73991549
|
0.00981
|
NM_006440.5(TXNRD2):c.1233C>T (p.Ser411=)
|
rs35099271
|
0.00966
|
NM_003098.3(SNTA1):c.317G>A (p.Arg106Gln)
|
rs75025585
|
0.00904
|
NM_006393.3(NEBL):c.2057T>C (p.Val686Ala)
|
rs74120667
|
0.00888
|
NM_006393.3(NEBL):c.2182A>G (p.Thr728Ala)
|
rs71535732
|
0.00843
|
NM_006440.5(TXNRD2):c.591+18del
|
rs200848663
|
0.00807
|
NM_170707.4(LMNA):c.51C>T (p.Ser17=)
|
rs11549668
|
0.00797
|
NM_001318895.3(FHL2):c.678C>T (p.Asn226=)
|
rs137869171
|
0.00794
|
NM_014391.3(ANKRD1):c.*41T>G
|
rs150520404
|
0.00788
|
NM_006393.3(NEBL):c.191A>G (p.Lys64Arg)
|
rs71578975
|
0.00786
|
NM_014391.3(ANKRD1):c.-17A>G
|
rs79341122
|
0.00753
|
NM_014391.3(ANKRD1):c.348G>A (p.Thr116=)
|
rs137914723
|
0.00748
|
NM_004006.3(DMD):c.2391T>G (p.Asn797Lys)
|
rs72468681
|
0.00714
|
NM_001318895.3(FHL2):c.331+16T>C
|
rs76372678
|
0.00659
|
NM_014391.3(ANKRD1):c.*319A>G
|
rs142439928
|
0.00587
|
NM_001368067.1(LDB3):c.349G>A (p.Asp117Asn)
|
rs121908338
|
0.00584
|
NM_001032283.3(TMPO):c.565+2487C>T
|
rs17028450
|
0.00576
|
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu)
|
rs189569984
|
0.00554
|
NM_006393.3(NEBL):c.1008+4C>T
|
rs71534253
|
0.00540
|
NM_006393.3(NEBL):c.1117-6T>G
|
rs71578938
|
0.00538
|
NM_006393.3(NEBL):c.1861A>G (p.Ile621Val)
|
rs79718972
|
0.00532
|
NM_006440.5(TXNRD2):c.375-19T>G
|
rs147120537
|
0.00527
|
NM_006440.5(TXNRD2):c.529-6C>T
|
rs116054286
|
0.00525
|
NM_014391.3(ANKRD1):c.-34C>T
|
rs114144205
|
0.00522
|
NM_014391.3(ANKRD1):c.*588A>C
|
rs137950655
|
0.00510
|
NM_006440.5(TXNRD2):c.1087-11C>T
|
rs577814757
|
0.00505
|
NM_006393.3(NEBL):c.11C>T (p.Pro4Leu)
|
rs114918858
|
0.00501
|
NM_001318895.3(FHL2):c.689-10C>G
|
rs115841332
|
0.00456
|
NM_002471.4(MYH6):c.4651-12A>C
|
rs193922653
|
0.00413
|
NM_014391.3(ANKRD1):c.148G>C (p.Ala50Pro)
|
rs28730751
|
0.00387
|
NM_006393.3(NEBL):c.180G>C (p.Lys60Asn)
|
rs41277374
|
0.00382
|
NM_001318895.3(FHL2):c.321C>T (p.Thr107=)
|
rs139644436
|
0.00380
|
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr)
|
rs72650011
|
0.00378
|
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln)
|
rs34580776
|
0.00376
|
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=)
|
rs35902788
|
0.00370
|
NM_004006.3(DMD):c.3406A>T (p.Thr1136Ser)
|
rs3827462
|
0.00356
|
NM_001105206.3(LAMA4):c.2810A>G (p.Glu937Gly)
|
rs35605307
|
0.00349
|
NM_020297.4(ABCC9):c.2523C>T (p.Ala841=)
|
rs144537241
|
0.00345
|
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn)
|
rs201370621
|
0.00344
|
NM_004281.4(BAG3):c.249C>A (p.His83Gln)
|
rs151331972
|
0.00344
|
NM_001148.6(ANK2):c.9454A>G (p.Thr3152Ala)
|
rs61741040
|
0.00340
|
NM_006393.3(NEBL):c.480+3A>G
|
rs71578983
|
0.00336
|
NM_006440.5(TXNRD2):c.210C>T (p.Tyr70=)
|
rs186462665
|
0.00333
|
NM_006440.5(TXNRD2):c.103+19G>A
|
rs45536341
|
0.00329
|
NM_170707.4(LMNA):c.357C>T (p.Arg119=)
|
rs41313880
|
0.00321
|
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu)
|
rs71534278
|
0.00318
|
NM_001267550.2(TTN):c.2765G>A (p.Arg922His)
|
rs56046320
|
0.00295
|
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn)
|
rs41302885
|
0.00290
|
NM_006393.3(NEBL):c.1450-9T>G
|
rs45628140
|
0.00280
|
NM_001308093.3(GATA4):c.825C>T (p.Cys275=)
|
rs55980825
|
0.00275
|
NM_006393.3(NEBL):c.2149-5G>A
|
rs71578956
|
0.00272
|
NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg)
|
rs45550635
|
0.00271
|
NM_014391.3(ANKRD1):c.319G>T (p.Val107Leu)
|
rs114435632
|
0.00269
|
NM_014000.3(VCL):c.3258+10A>T
|
rs71579379
|
0.00267
|
NM_006440.5(TXNRD2):c.816C>T (p.Gly272=)
|
rs144584524
|
0.00266
|
NM_001267550.2(TTN):c.92537T>C (p.Val30846Ala)
|
rs77968867
|
0.00262
|
NM_001267550.2(TTN):c.64762G>A (p.Gly21588Arg)
|
rs181717727
|
0.00261
|
NM_001267550.2(TTN):c.88708A>G (p.Ile29570Val)
|
rs139506970
|
0.00255
|
NM_006393.3(NEBL):c.154-11C>A
|
rs41277376
|
0.00252
|
NM_001267550.2(TTN):c.97490T>C (p.Ile32497Thr)
|
rs55660660
|
0.00251
|
NM_001267550.2(TTN):c.83740A>G (p.Thr27914Ala)
|
rs188370772
|
0.00250
|
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu)
|
rs11570112
|
0.00247
|
NM_006393.3(NEBL):c.2654C>T (p.Ser885Phe)
|
rs143584663
|
0.00245
|
NM_001134363.3(RBM20):c.150A>T (p.Pro50=)
|
rs376936285
|
0.00244
|
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val)
|
rs35550482
|
0.00244
|
NM_005751.5(AKAP9):c.1372G>C (p.Ala458Pro)
|
rs143894795
|
0.00241
|
NM_014000.3(VCL):c.1907A>G (p.His636Arg)
|
rs71579374
|
0.00240
|
NM_006393.3(NEBL):c.109T>C (p.Leu37=)
|
rs140734883
|
0.00213
|
NM_006393.3(NEBL):c.604G>A (p.Gly202Arg)
|
rs137973321
|
0.00210
|
NM_000116.5(TAFAZZIN):c.646+14C>T
|
rs191527230
|
0.00206
|
NM_007078.3(LDB3):c.1460G>A (p.Arg487His)
|
rs146265188
|
0.00189
|
NM_001032283.3(TMPO):c.565+1728G>C
|
rs145703021
|
0.00188
|
NM_006393.3(NEBL):c.1869+8C>G
|
rs188529864
|
0.00188
|
NM_004006.3(DMD):c.9682T>C (p.Phe3228Leu)
|
rs141392048
|
0.00180
|
NM_001318895.3(FHL2):c.109G>T (p.Ala37Ser)
|
rs74575749
|
0.00175
|
NM_014391.3(ANKRD1):c.*343A>G
|
rs41286920
|
0.00174
|
NM_001267550.2(TTN):c.35264A>C (p.Lys11755Thr)
|
rs189966800
|
0.00172
|
NM_006393.3(NEBL):c.267C>G (p.Tyr89Ter)
|
rs147622517
|
0.00154
|
NM_006440.5(TXNRD2):c.110A>T (p.Gln37Leu)
|
rs148092370
|
0.00150
|
NM_001267550.2(TTN):c.37432C>T (p.Pro12478Ser)
|
rs200992277
|
0.00143
|
NM_001032283.3(TMPO):c.565+1696C>T
|
rs141443652
|
0.00142
|
NM_005726.6(TSFM):c.856C>T (p.Gln286Ter)
|
rs201754030
|
0.00136
|
NM_006393.3(NEBL):c.2685C>T (p.Asp895=)
|
rs140245727
|
0.00135
|
NM_006393.3(NEBL):c.2482A>G (p.Ile828Val)
|
rs143930021
|
0.00132
|
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys)
|
rs140148105
|
0.00130
|
NM_006440.5(TXNRD2):c.505G>A (p.Gly169Ser)
|
rs138462062
|
0.00128
|
NM_006393.3(NEBL):c.624C>T (p.Pro208=)
|
rs111854914
|
0.00124
|
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr)
|
rs199865688
|
0.00122
|
NM_001267550.2(TTN):c.53096G>A (p.Arg17699His)
|
rs72646808
|
0.00118
|
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)
|
rs142000963
|
0.00117
|
NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp)
|
rs140640738
|
0.00113
|
NM_001267550.2(TTN):c.90536G>A (p.Arg30179His)
|
rs149567378
|
0.00113
|
NM_001267550.2(TTN):c.13859G>A (p.Gly4620Asp)
|
rs55857742
|
0.00111
|
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser)
|
rs184412722
|
0.00111
|
NM_001267550.2(TTN):c.49919G>C (p.Ser16640Thr)
|
rs55663050
|
0.00110
|
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser)
|
rs143978652
|
0.00110
|
NM_004006.3(DMD):c.7571G>A (p.Arg2524His)
|
rs151244052
|
0.00109
|
NM_001267550.2(TTN):c.91765G>A (p.Ala30589Thr)
|
rs148617456
|
0.00108
|
NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe)
|
rs191484894
|
0.00108
|
NM_006440.5(TXNRD2):c.933C>T (p.Thr311=)
|
rs187065627
|
0.00108
|
NM_001267550.2(TTN):c.64789G>A (p.Val21597Met)
|
rs150661999
|
0.00107
|
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His)
|
rs187705120
|
0.00106
|
NM_001267550.2(TTN):c.101891G>A (p.Arg33964His)
|
rs55669553
|
0.00106
|
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His)
|
rs149855485
|
0.00106
|
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr)
|
rs146181477
|
0.00106
|
NM_006440.5(TXNRD2):c.1016A>T (p.Gln339Leu)
|
rs200606822
|
0.00106
|
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met)
|
rs146627500
|
0.00104
|
NM_001267550.2(TTN):c.45175G>A (p.Ala15059Thr)
|
rs144668626
|
0.00104
|
NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys)
|
rs56264840
|
0.00104
|
NM_006440.5(TXNRD2):c.1195G>A (p.Val399Ile)
|
rs201222740
|
0.00104
|
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly)
|
rs150430592
|
0.00103
|
NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val)
|
rs56347248
|
0.00102
|
NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val)
|
rs201562505
|
0.00102
|
NM_006440.5(TXNRD2):c.1523G>A (p.Arg508His)
|
rs201391000
|
0.00102
|
NM_006440.5(TXNRD2):c.762C>T (p.Arg254=)
|
rs180876642
|
0.00101
|
NM_001267550.2(TTN):c.79612A>G (p.Thr26538Ala)
|
rs150682764
|
0.00100
|
NM_003803.4(MYOM1):c.1978C>G (p.Pro660Ala)
|
rs201104206
|
0.00100
|
NM_000238.4(KCNH2):c.3133C>T (p.Leu1045Phe)
|
rs199473025
|
0.00098
|
NM_001267550.2(TTN):c.7961G>A (p.Arg2654Lys)
|
rs147207100
|
0.00096
|
NM_014391.2(ANKRD1):c.-79C>T
|
rs369861544
|
0.00095
|
NM_000116.5(TAFAZZIN):c.*560G>A
|
rs782808430
|
0.00094
|
NM_001318895.3(FHL2):c.85G>A (p.Val29Met)
|
rs56284940
|
0.00093
|
NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln)
|
rs150797476
|
0.00092
|
NM_005138.3(SCO2):c.16_17insAGCATGCAGCAGTGACTCA (p.Arg6fs)
|
rs749838192
|
0.00091
|
NM_181486.4(TBX5):c.836G>A (p.Arg279Gln)
|
rs115178276
|
0.00087
|
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser)
|
rs193922380
|
0.00086
|
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe)
|
rs145393807
|
0.00085
|
NM_001458.5(FLNC):c.7947C>T (p.Phe2649=)
|
rs368849358
|
0.00083
|
NM_001267550.2(TTN):c.13976A>G (p.Tyr4659Cys)
|
rs34706803
|
0.00081
|
NM_006440.5(TXNRD2):c.374+17G>A
|
rs200108545
|
0.00080
|
NM_001267550.2(TTN):c.102103G>A (p.Asp34035Asn)
|
rs144963736
|
0.00078
|
NM_006393.3(NEBL):c.1838G>A (p.Arg613Gln)
|
rs151035799
|
0.00074
|
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr)
|
rs72648227
|
0.00073
|
NM_022114.4(PRDM16):c.3154G>A (p.Ala1052Thr)
|
rs113879347
|
0.00072
|
NM_133379.5(TTN):c.16613G>A (p.Arg5538His)
|
rs145932311
|
0.00071
|
NM_001103.4(ACTN2):c.26A>G (p.Gln9Arg)
|
rs121434525
|
0.00070
|
NM_006440.5(TXNRD2):c.303A>G (p.Ala101=)
|
rs200076623
|
0.00069
|
NM_014391.3(ANKRD1):c.369G>A (p.Thr123=)
|
rs148979787
|
0.00069
|
NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys)
|
rs146868519
|
0.00067
|
NM_000335.5(SCN5A):c.5504T>C (p.Ile1835Thr)
|
rs45563942
|
0.00066
|
NM_001134363.3(RBM20):c.680G>T (p.Gly227Val)
|
rs202238753
|
0.00066
|
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met)
|
rs72648237
|
0.00066
|
NM_006393.3(NEBL):c.994G>A (p.Val332Ile)
|
rs150518045
|
0.00065
|
NM_001267550.2(TTN):c.50758C>G (p.Pro16920Ala)
|
rs377289817
|
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_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys)
|
rs201312636
|
0.00063
|
NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr)
|
rs72629793
|
0.00063
|
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met)
|
rs142951505
|
0.00061
|
NM_001267550.2(TTN):c.39211+6C>T
|
rs187365142
|
0.00061
|
NM_006440.5(TXNRD2):c.1461T>C (p.Tyr487=)
|
rs376363162
|
0.00061
|
NM_001267550.2(TTN):c.29042-2A>C
|
rs6716782
|
0.00060
|
NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys)
|
rs199506676
|
0.00059
|
NM_001927.4(DES):c.934G>A (p.Asp312Asn)
|
rs34337334
|
0.00059
|
NM_000152.5(GAA):c.1343G>C (p.Ser448Thr)
|
rs145712232
|
0.00057
|
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser)
|
rs192766485
|
0.00057
|
NM_006393.3(NEBL):c.1008+8C>G
|
rs376842299
|
0.00054
|
NM_006440.5(TXNRD2):c.1174T>C (p.Tyr392His)
|
rs201971987
|
0.00052
|
NM_006393.3(NEBL):c.2054C>T (p.Ala685Val)
|
rs146218038
|
0.00051
|
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu)
|
rs45496496
|
0.00050
|
NM_001005242.3(PKP2):c.1379-2019C>T
|
rs149930872
|
0.00049
|
NM_001267550.2(TTN):c.31763-1G>A
|
rs202234172
|
0.00048
|
NM_006440.5(TXNRD2):c.775-19G>A
|
rs189646218
|
0.00048
|
NM_006440.5(TXNRD2):c.1509G>A (p.Glu503=)
|
rs200619889
|
0.00045
|
NM_006393.3(NEBL):c.277A>G (p.Ile93Val)
|
rs762884881
|
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_001267550.2(TTN):c.39044-9T>A
|
rs184888200
|
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_006440.5(TXNRD2):c.375-8C>T
|
rs180876844
|
0.00041
|
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp)
|
rs146379816
|
0.00039
|
NM_001943.5(DSG2):c.1781T>C (p.Leu594Pro)
|
rs199681901
|
0.00038
|
NM_006440.5(TXNRD2):c.462C>T (p.Tyr154=)
|
rs182857388
|
0.00038
|
NM_006440.5(TXNRD2):c.662+11C>G
|
rs373734411
|
0.00038
|
NM_001943.5(DSG2):c.716T>C (p.Val239Ala)
|
rs200997703
|
0.00037
|
NM_014391.3(ANKRD1):c.313C>T (p.Pro105Ser)
|
rs148189486
|
0.00037
|
NM_000116.5(TAFAZZIN):c.*396C>T
|
rs144283894
|
0.00036
|
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys)
|
rs199669878
|
0.00036
|
NM_001318895.3(FHL2):c.207G>A (p.Ser69=)
|
rs138189036
|
0.00036
|
NM_001318895.3(FHL2):c.337C>T (p.Arg113Cys)
|
rs140148322
|
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_006393.3(NEBL):c.2148+4T>C
|
rs193163659
|
0.00035
|
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys)
|
rs147415451
|
0.00033
|
NM_006393.3(NEBL):c.827T>C (p.Met276Thr)
|
rs141285752
|
0.00033
|
NM_004415.4(DSP):c.273+5G>A
|
rs200473206
|
0.00031
|
NM_006440.5(TXNRD2):c.1308C>T (p.Phe436=)
|
rs190301927
|
0.00031
|
NM_001267550.2(TTN):c.88733G>A (p.Arg29578His)
|
rs374147064
|
0.00030
|
NM_006393.3(NEBL):c.682C>G (p.Gln228Glu)
|
rs143644290
|
0.00030
|
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met)
|
rs145387010
|
0.00030
|
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala)
|
rs143139258
|
0.00029
|
NM_006440.5(TXNRD2):c.229+15A>G
|
rs370756162
|
0.00029
|
NM_024422.6(DSC2):c.1559T>C (p.Ile520Thr)
|
rs561310777
|
0.00029
|
NM_170707.4(LMNA):c.1584G>A (p.Thr528=)
|
rs80356812
|
0.00029
|
NM_001134363.3(RBM20):c.3115C>T (p.Pro1039Ser)
|
rs727503392
|
0.00028
|
NM_001148.6(ANK2):c.1910C>T (p.Ala637Val)
|
rs150488571
|
0.00028
|
NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu)
|
rs185962498
|
0.00028
|
NM_001267550.2(TTN):c.65729T>C (p.Ile21910Thr)
|
rs146941600
|
0.00028
|
NM_013266.4(CTNNA3):c.2573T>C (p.Leu858Ser)
|
rs41313840
|
0.00028
|
NM_014391.3(ANKRD1):c.*642G>A
|
rs184423047
|
0.00027
|
NM_000256.3(MYBPC3):c.1721G>A (p.Arg574Gln)
|
rs397515922
|
0.00026
|
NM_001458.5(FLNC):c.4097A>G (p.Asn1366Ser)
|
rs185746835
|
0.00026
|
NM_007078.3(LDB3):c.2092G>A (p.Ala698Thr)
|
rs45577134
|
0.00026
|
NM_000232.5(SGCB):c.794C>T (p.Thr265Ile)
|
rs116214830
|
0.00025
|
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met)
|
rs200119454
|
0.00025
|
NM_001318895.3(FHL2):c.738C>T (p.Asn246=)
|
rs755230829
|
0.00024
|
NM_001386795.1(DTNA):c.1330C>T (p.Arg444Trp)
|
rs199867593
|
0.00024
|
NM_006440.5(TXNRD2):c.957C>G (p.Val319=)
|
rs371700934
|
0.00024
|
NM_001267550.2(TTN):c.25066C>T (p.Arg8356Cys)
|
rs201810836
|
0.00023
|
NM_002230.4(JUP):c.546G>A (p.Ser182=)
|
rs202038498
|
0.00023
|
NM_004006.3(DMD):c.1337A>G (p.His446Arg)
|
rs72468699
|
0.00023
|
NM_006440.5(TXNRD2):c.1275+18C>T
|
rs374333900
|
0.00023
|
NM_006440.5(TXNRD2):c.77T>G (p.Val26Gly)
|
rs925920723
|
0.00023
|
NM_002471.4(MYH6):c.2614C>T (p.Arg872Cys)
|
rs201193346
|
0.00022
|
NM_002471.4(MYH6):c.4505G>A (p.Arg1502Gln)
|
rs199936506
|
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_000426.4(LAMA2):c.8905C>T (p.Arg2969Cys)
|
rs374888837
|
0.00021
|
NM_006393.3(NEBL):c.27A>C (p.Ile9=)
|
rs536400111
|
0.00021
|
NM_006393.3(NEBL):c.82-4A>G
|
rs368268112
|
0.00021
|
NM_006440.5(TXNRD2):c.1077C>T (p.Asp359=)
|
rs147383232
|
0.00021
|
NM_006440.5(TXNRD2):c.1086+12G>A
|
rs143966577
|
0.00021
|
NM_006440.5(TXNRD2):c.683-6C>T
|
rs757160421
|
0.00021
|
NM_014391.2(ANKRD1):c.-167C>T
|
rs568634889
|
0.00021
|
NM_001267550.2(TTN):c.48460+5G>A
|
rs374413644
|
0.00020
|
NM_006393.3(NEBL):c.2417C>T (p.Thr806Ile)
|
rs200705273
|
0.00020
|
NM_006440.5(TXNRD2):c.1137G>C (p.Val379=)
|
rs184640901
|
0.00020
|
NM_006440.5(TXNRD2):c.173-19del
|
rs770032943
|
0.00020
|
NM_000335.5(SCN5A):c.998+5G>A
|
rs187531872
|
0.00019
|
NM_000337.6(SGCD):c.848A>G (p.Gln283Arg)
|
rs397516338
|
0.00019
|
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln)
|
rs115407852
|
0.00019
|
NM_001267550.2(TTN):c.38975A>T (p.Lys12992Ile)
|
rs746094582
|
0.00019
|
NM_002471.4(MYH6):c.4328C>A (p.Ala1443Asp)
|
rs727503234
|
0.00019
|
NM_002471.4(MYH6):c.824T>A (p.Ile275Asn)
|
rs201327273
|
0.00019
|
NM_004415.4(DSP):c.8415C>T (p.Ala2805=)
|
rs377148997
|
0.00019
|
NM_006393.3(NEBL):c.14T>C (p.Val5Ala)
|
rs145770601
|
0.00019
|
NM_006393.3(NEBL):c.1728T>C (p.Asp576=)
|
rs1528182
|
0.00019
|
NM_006393.3(NEBL):c.1837C>T (p.Arg613Ter)
|
rs146471913
|
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.221C>G (p.Ser74Cys)
|
rs200942544
|
0.00019
|
NM_006440.5(TXNRD2):c.585C>G (p.Pro195=)
|
rs201760306
|
0.00019
|
NM_006440.5(TXNRD2):c.662C>T (p.Thr221Met)
|
rs188258380
|
0.00019
|
NM_000152.5(GAA):c.1285C>G (p.Gln429Glu)
|
rs528369909
|
0.00018
|
NM_000447.3(PSEN2):c.149A>G (p.Gln50Arg)
|
rs143501870
|
0.00018
|
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr)
|
rs72646853
|
0.00018
|
NM_001318895.3(FHL2):c.174C>T (p.Asp58=)
|
rs141208906
|
0.00018
|
NM_001318895.3(FHL2):c.402G>C (p.Gln134His)
|
rs199585402
|
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_001267550.2(TTN):c.101708G>A (p.Arg33903His)
|
rs72629782
|
0.00017
|
NM_006440.5(TXNRD2):c.682+15C>T
|
rs201450101
|
0.00017
|
NM_000426.4(LAMA2):c.7057C>T (p.Arg2353Cys)
|
rs145885540
|
0.00016
|
NM_001005242.3(PKP2):c.1951C>T (p.Arg651Cys)
|
rs199583774
|
0.00016
|
NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp)
|
rs200420897
|
0.00016
|
NM_001267550.2(TTN):c.53881+5G>A
|
rs753527304
|
0.00016
|
NM_001318895.3(FHL2):c.108C>T (p.Phe36=)
|
rs201189319
|
0.00016
|
NM_001458.5(FLNC):c.1108A>G (p.Met370Val)
|
rs370406338
|
0.00016
|
NM_002230.4(JUP):c.1924+8G>C
|
rs730880115
|
0.00016
|
NM_002471.4(MYH6):c.67C>T (p.Arg23Cys)
|
rs587782959
|
0.00016
|
NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr)
|
rs201302282
|
0.00016
|
NM_004415.4(DSP):c.1949A>G (p.Asn650Ser)
|
rs145650440
|
0.00016
|
NM_006393.3(NEBL):c.1302C>G (p.Ile434Met)
|
rs202112717
|
0.00016
|
NM_006393.3(NEBL):c.2101C>A (p.Pro701Thr)
|
rs371551337
|
0.00016
|
NM_006393.3(NEBL):c.258+1G>A
|
rs139581346
|
0.00016
|
NM_006393.3(NEBL):c.2775C>T (p.Pro925=)
|
rs199887353
|
0.00016
|
NM_006440.5(TXNRD2):c.2T>C (p.Met1Thr)
|
rs749057584
|
0.00016
|
NM_006440.5(TXNRD2):c.591+1G>C
|
rs200610775
|
0.00016
|
NM_006440.5(TXNRD2):c.834C>G (p.Gly278=)
|
rs371075332
|
0.00016
|
NM_000152.5(GAA):c.368G>A (p.Gly123Glu)
|
rs138034915
|
0.00015
|
NM_000257.4(MYH7):c.5562G>A (p.Thr1854=)
|
rs368706722
|
0.00015
|
NM_001267550.2(TTN):c.92699A>G (p.Asn30900Ser)
|
rs186234393
|
0.00015
|
NM_001134363.3(RBM20):c.2393C>T (p.Pro798Leu)
|
rs730880184
|
0.00014
|
NM_001318895.3(FHL2):c.332-7A>G
|
rs748658755
|
0.00014
|
NM_001318895.3(FHL2):c.523A>C (p.Thr175Pro)
|
rs200116659
|
0.00014
|
NM_001927.4(DES):c.893C>T (p.Ser298Leu)
|
rs62636491
|
0.00014
|
NM_002471.4(MYH6):c.1132G>A (p.Gly378Ser)
|
rs148962966
|
0.00014
|
NM_004281.4(BAG3):c.1634C>G (p.Pro545Arg)
|
rs759348679
|
0.00014
|
NM_006393.3(NEBL):c.1227+5G>A
|
rs370026081
|
0.00014
|
NM_006393.3(NEBL):c.1864A>C (p.Ser622Arg)
|
rs142157051
|
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.480+11G>A
|
rs769167750
|
0.00014
|
NM_006393.3(NEBL):c.489T>C (p.Tyr163=)
|
rs141153708
|
0.00014
|
NM_006440.5(TXNRD2):c.1036C>T (p.Arg346Trp)
|
rs61736941
|
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.199G>A (p.Val67Met)
|
rs372803804
|
0.00014
|
NM_006440.5(TXNRD2):c.259G>A (p.Val87Ile)
|
rs201658653
|
0.00014
|
NM_006440.5(TXNRD2):c.771C>T (p.Asp257=)
|
rs536545192
|
0.00014
|
NM_014000.3(VCL):c.2828_2829del (p.Pro943fs)
|
rs781036800
|
0.00014
|
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr)
|
rs45478699
|
0.00013
|
NM_001035.3(RYR2):c.3251G>A (p.Arg1084Lys)
|
rs193922624
|
0.00013
|
NM_001318895.3(FHL2):c.507C>T (p.Ile169=)
|
rs539301452
|
0.00013
|
NM_001318895.3(FHL2):c.512C>T (p.Thr171Met)
|
rs727504674
|
0.00013
|
NM_006393.3(NEBL):c.393T>C (p.Asp131=)
|
rs759593690
|
0.00013
|
NM_006440.5(TXNRD2):c.1158C>T (p.Ser386=)
|
rs558954630
|
0.00013
|
NM_006440.5(TXNRD2):c.1475G>A (p.Arg492Gln)
|
rs368561764
|
0.00013
|
NM_006440.5(TXNRD2):c.821G>A (p.Arg274Gln)
|
rs374364917
|
0.00013
|
NM_014391.3(ANKRD1):c.*489G>A
|
rs192827821
|
0.00013
|
NM_001134363.3(RBM20):c.1027C>T (p.His343Tyr)
|
rs112226602
|
0.00012
|
NM_001267550.2(TTN):c.59402G>A (p.Gly19801Asp)
|
rs202206216
|
0.00012
|
NM_001378969.1(KCND3):c.1354G>A (p.Glu452Lys)
|
rs200532657
|
0.00012
|
NM_006393.3(NEBL):c.1008+14C>T
|
rs369037243
|
0.00012
|
NM_006393.3(NEBL):c.214C>A (p.Pro72Thr)
|
rs150000482
|
0.00012
|
NM_006440.5(TXNRD2):c.103+13C>T
|
rs917431888
|
0.00012
|
NM_006440.5(TXNRD2):c.623G>A (p.Ser208Asn)
|
rs201531690
|
0.00012
|
NM_006440.5(TXNRD2):c.96C>T (p.Gly32=)
|
rs767140410
|
0.00012
|
NM_032578.4(MYPN):c.3913A>G (p.Met1305Val)
|
rs730880170
|
0.00012
|
NM_032578.4(MYPN):c.3934C>T (p.Arg1312Trp)
|
rs142354704
|
0.00012
|
NM_000335.5(SCN5A):c.3832G>A (p.Val1278Ile)
|
rs199473341
|
0.00011
|
NM_000426.4(LAMA2):c.8842G>A (p.Gly2948Ser)
|
rs143638361
|
0.00011
|
NM_001105206.3(LAMA4):c.1999G>T (p.Asp667Tyr)
|
rs397516720
|
0.00011
|
NM_001267550.2(TTN):c.102737G>A (p.Arg34246His)
|
rs372716177
|
0.00011
|
NM_001267550.2(TTN):c.11113del (p.Arg3705fs)
|
rs746386040
|
0.00011
|
NM_001267550.2(TTN):c.22090C>T (p.Arg7364Trp)
|
rs397517500
|
0.00011
|
NM_001267550.2(TTN):c.50858-3C>T
|
rs587782987
|
0.00011
|
NM_001267550.2(TTN):c.53590A>G (p.Thr17864Ala)
|
rs375309278
|
0.00011
|
NM_001318895.3(FHL2):c.192C>T (p.Ala64=)
|
rs199943518
|
0.00011
|
NM_006393.3(NEBL):c.2650C>T (p.His884Tyr)
|
rs191259903
|
0.00011
|
NM_006393.3(NEBL):c.523G>A (p.Ala175Thr)
|
rs71541562
|
0.00011
|
NM_006440.5(TXNRD2):c.1177G>A (p.Asp393Asn)
|
rs369142382
|
0.00011
|
NM_006440.5(TXNRD2):c.543C>T (p.Ala181=)
|
rs367754522
|
0.00011
|
NM_007078.3(LDB3):c.794G>A (p.Arg265His)
|
rs45458895
|
0.00011
|
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys)
|
rs137853197
|
0.00011
|
NM_000719.7(CACNA1C):c.5717G>A (p.Arg1906Gln)
|
rs758166168
|
0.00010
|
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu)
|
rs149513743
|
0.00010
|
NM_006393.3(NEBL):c.1674A>C (p.Arg558Ser)
|
rs376405982
|
0.00010
|
NM_006393.3(NEBL):c.2344A>G (p.Met782Val)
|
rs200574474
|
0.00010
|
NM_006440.5(TXNRD2):c.236G>A (p.Arg79Gln)
|
rs373979810
|
0.00010
|
NM_006440.5(TXNRD2):c.801C>T (p.His267=)
|
rs550803593
|
0.00010
|
NM_014391.2(ANKRD1):c.-102C>T
|
rs549813663
|
0.00010
|
NM_014391.2(ANKRD1):c.-131C>T
|
rs538475043
|
0.00010
|
NM_032578.4(MYPN):c.259C>G (p.Pro87Ala)
|
rs376945733
|
0.00010
|
NM_000335.5(SCN5A):c.5686C>T (p.Arg1896Trp)
|
rs45465995
|
0.00009
|
NM_001318895.3(FHL2):c.392G>A (p.Arg131His)
|
rs371421189
|
0.00009
|
NM_001318895.3(FHL2):c.820G>A (p.Asp274Asn)
|
rs145070796
|
0.00009
|
NM_001368067.1(LDB3):c.433G>A (p.Gly145Ser)
|
rs376489385
|
0.00009
|
NM_002230.4(JUP):c.578T>C (p.Met193Thr)
|
rs139496777
|
0.00009
|
NM_004415.4(DSP):c.5513G>A (p.Arg1838His)
|
rs377715841
|
0.00009
|
NM_004415.4(DSP):c.5617C>T (p.Arg1873Cys)
|
rs144392839
|
0.00009
|
NM_006393.3(NEBL):c.120A>G (p.Glu40=)
|
rs397517203
|
0.00009
|
NM_006393.3(NEBL):c.1652C>T (p.Thr551Ile)
|
rs191012363
|
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_006393.3(NEBL):c.582+9T>C
|
rs185873503
|
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_006440.5(TXNRD2):c.1549C>T (p.Pro517Ser)
|
rs756196216
|
0.00009
|
NM_006440.5(TXNRD2):c.745C>T (p.Arg249Cys)
|
rs557142042
|
0.00009
|
NM_014391.3(ANKRD1):c.108T>C (p.Ala36=)
|
rs145211719
|
0.00009
|
NM_001134363.3(RBM20):c.2147G>A (p.Arg716Gln)
|
rs375798246
|
0.00008
|
NM_004006.3(DMD):c.7919C>G (p.Ala2640Gly)
|
rs146020545
|
0.00008
|
NM_004281.4(BAG3):c.211C>T (p.Arg71Trp)
|
rs387906874
|
0.00008
|
NM_006393.3(NEBL):c.1540G>T (p.Ala514Ser)
|
rs781572930
|
0.00008
|
NM_006393.3(NEBL):c.1946A>G (p.Gln649Arg)
|
rs770416802
|
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_006393.3(NEBL):c.2612-11C>T
|
rs200934881
|
0.00008
|
NM_006440.5(TXNRD2):c.1030G>T (p.Asp344Tyr)
|
rs373839226
|
0.00008
|
NM_000116.5(TAFAZZIN):c.*618A>G
|
rs781924638
|
0.00007
|
NM_000256.3(MYBPC3):c.814C>T (p.Arg272Cys)
|
rs397516075
|
0.00007
|
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys)
|
rs199473339
|
0.00007
|
NM_002230.4(JUP):c.526C>T (p.Arg176Trp)
|
rs368336007
|
0.00007
|
NM_002230.4(JUP):c.56C>T (p.Thr19Ile)
|
rs570878629
|
0.00007
|
NM_006393.3(NEBL):c.1366A>G (p.Ile456Val)
|
rs144402571
|
0.00007
|
NM_006393.3(NEBL):c.2848A>G (p.Met950Val)
|
rs201838351
|
0.00007
|
NM_006393.3(NEBL):c.535C>T (p.Arg179Ter)
|
rs370153729
|
0.00007
|
NM_006440.5(TXNRD2):c.175G>A (p.Ala59Thr)
|
rs752863555
|
0.00007
|
NM_006440.5(TXNRD2):c.611A>G (p.Tyr204Cys)
|
rs199765650
|
0.00007
|
NM_006440.5(TXNRD2):c.949+11G>A
|
rs772807846
|
0.00007
|
NM_144573.4(NEXN):c.586C>T (p.Arg196Cys)
|
rs369486891
|
0.00007
|
NM_000335.5(SCN5A):c.142G>A (p.Glu48Lys)
|
rs199473048
|
0.00006
|
NM_000335.5(SCN5A):c.393-5C>A
|
rs368678204
|
0.00006
|
NM_001077653.2(TBX20):c.10A>T (p.Thr4Ser)
|
rs147393830
|
0.00006
|
NM_001105206.3(LAMA4):c.631A>C (p.Asn211His)
|
rs371848733
|
0.00006
|
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His)
|
rs563762318
|
0.00006
|
NM_001267550.2(TTN):c.107696T>C (p.Ile35899Thr)
|
rs372276487
|
0.00006
|
NM_001267550.2(TTN):c.3295G>A (p.Val1099Met)
|
rs368282893
|
0.00006
|
NM_001267550.2(TTN):c.39895+1G>T
|
rs749931280
|
0.00006
|
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter)
|
rs72646846
|
0.00006
|
NM_001267550.2(TTN):c.75034C>T (p.Arg25012Trp)
|
rs368914555
|
0.00006
|
NM_001267550.2(TTN):c.83272T>C (p.Phe27758Leu)
|
rs188323108
|
0.00006
|
NM_002018.4(FLII):c.3718C>T (p.Arg1240Cys)
|
rs563225941
|
0.00006
|
NM_002471.4(MYH6):c.1171C>A (p.Leu391Met)
|
rs869025472
|
0.00006
|
NM_002471.4(MYH6):c.4216G>A (p.Val1406Met)
|
rs201566738
|
0.00006
|
NM_006393.3(NEBL):c.1225G>A (p.Glu409Lys)
|
rs767565380
|
0.00006
|
NM_006393.3(NEBL):c.1258A>G (p.Ile420Val)
|
rs761905318
|
0.00006
|
NM_006393.3(NEBL):c.1272A>G (p.Gly424=)
|
rs727504866
|
0.00006
|
NM_006393.3(NEBL):c.1339-20T>C
|
rs370957821
|
0.00006
|
NM_006393.3(NEBL):c.1715C>T (p.Ser572Phe)
|
rs778833975
|
0.00006
|
NM_006393.3(NEBL):c.1721T>C (p.Ile574Thr)
|
rs754884291
|
0.00006
|
NM_006393.3(NEBL):c.1776+15C>G
|
rs373748632
|
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.2346+6G>A
|
rs201822024
|
0.00006
|
NM_006393.3(NEBL):c.2398G>A (p.Val800Ile)
|
rs367986765
|
0.00006
|
NM_006393.3(NEBL):c.2619G>A (p.Ala873=)
|
rs140803920
|
0.00006
|
NM_006393.3(NEBL):c.326T>C (p.Ile109Thr)
|
rs371620771
|
0.00006
|
NM_006393.3(NEBL):c.367G>A (p.Glu123Lys)
|
rs189440246
|
0.00006
|
NM_006393.3(NEBL):c.430G>C (p.Glu144Gln)
|
rs147430943
|
0.00006
|
NM_006393.3(NEBL):c.56G>A (p.Gly19Glu)
|
rs727503338
|
0.00006
|
NM_006393.3(NEBL):c.740A>G (p.Asn247Ser)
|
rs147901148
|
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.1091G>A (p.Arg364Gln)
|
rs199734322
|
0.00006
|
NM_006440.5(TXNRD2):c.1126A>G (p.Arg376Gly)
|
rs371547623
|
0.00006
|
NM_006440.5(TXNRD2):c.1157C>A (p.Ser386Tyr)
|
rs377598025
|
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.1559C>G (p.Thr520Arg)
|
rs774708598
|
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_006440.5(TXNRD2):c.820C>T (p.Arg274Trp)
|
rs571571452
|
0.00006
|
NM_014391.3(ANKRD1):c.544C>T (p.Arg182Cys)
|
rs754717867
|
0.00006
|
NM_022114.4(PRDM16):c.3352G>A (p.Val1118Met)
|
rs542279737
|
0.00006
|
NM_022114.4(PRDM16):c.76C>T (p.Arg26Trp)
|
rs769704263
|
0.00006
|
NM_024422.6(DSC2):c.1091T>G (p.Val364Gly)
|
rs368089478
|
0.00006
|
NM_032578.4(MYPN):c.2540G>T (p.Gly847Val)
|
rs181848049
|
0.00006
|
NM_032578.4(MYPN):c.3886T>A (p.Ser1296Thr)
|
rs199585352
|
0.00006
|
NM_133379.5(TTN):c.13939del (p.Glu4647fs)
|
rs781363456
|
0.00006
|
NM_144573.4(NEXN):c.1453G>A (p.Glu485Lys)
|
rs368812830
|
0.00006
|
NM_201384.3(PLEC):c.1123G>A (p.Val375Met)
|
rs199866423
|
0.00006
|
NM_000257.4(MYH7):c.4294G>A (p.Val1432Ile)
|
rs144200285
|
0.00005
|
NM_001005242.3(PKP2):c.1372A>G (p.Ile458Val)
|
rs199571473
|
0.00005
|
NM_001134363.3(RBM20):c.3523A>G (p.Thr1175Ala)
|
rs768548680
|
0.00005
|
NM_001267550.2(TTN):c.1800+1G>A
|
rs397517497
|
0.00005
|
NM_001267550.2(TTN):c.31762G>A (p.Val10588Ile)
|
rs372371333
|
0.00005
|
NM_001267550.2(TTN):c.86821+2T>A
|
rs397517735
|
0.00005
|
NM_001318895.3(FHL2):c.374C>A (p.Thr125Asn)
|
rs773356788
|
0.00005
|
NM_001318895.3(FHL2):c.725G>A (p.Arg242Gln)
|
rs188279857
|
0.00005
|
NM_002294.3(LAMP2):c.32G>T (p.Gly11Val)
|
rs3180515
|
0.00005
|
NM_002471.4(MYH6):c.5642A>G (p.Lys1881Arg)
|
rs750886219
|
0.00005
|
NM_004006.3(DMD):c.10228G>A (p.Val3410Ile)
|
rs751030250
|
0.00005
|
NM_004006.3(DMD):c.2245A>G (p.Ile749Val)
|
rs771803281
|
0.00005
|
NM_004415.4(DSP):c.2569G>A (p.Gly857Ser)
|
rs548695484
|
0.00005
|
NM_006393.3(NEBL):c.1117-3C>T
|
rs376080967
|
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.2092A>G (p.Ile698Val)
|
rs565742208
|
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.259-2A>T
|
rs904604682
|
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_006393.3(NEBL):c.993C>T (p.Ala331=)
|
rs375117092
|
0.00005
|
NM_006440.5(TXNRD2):c.1008C>T (p.Pro336=)
|
rs746370708
|
0.00005
|
NM_006440.5(TXNRD2):c.1348-2A>G
|
rs768600057
|
0.00005
|
NM_006440.5(TXNRD2):c.1413C>T (p.Gly471=)
|
rs753841469
|
0.00005
|
NM_006440.5(TXNRD2):c.235C>T (p.Arg79Trp)
|
rs762060966
|
0.00005
|
NM_006440.5(TXNRD2):c.850G>C (p.Val284Leu)
|
rs201177571
|
0.00005
|
NM_006440.5(TXNRD2):c.917C>T (p.Thr306Met)
|
rs371153395
|
0.00005
|
NM_133379.5(TTN):c.16135C>T (p.Pro5379Ser)
|
rs182516675
|
0.00005
|
NM_144573.4(NEXN):c.865-5G>A
|
rs727505353
|
0.00005
|
NM_201384.3(PLEC):c.9424G>A (p.Gly3142Ser)
|
rs373523333
|
0.00005
|
NM_000231.3(SGCG):c.371G>T (p.Gly124Val)
|
rs183204936
|
0.00004
|
NM_000256.3(MYBPC3):c.1091C>T (p.Ala364Val)
|
rs778161908
|
0.00004
|
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met)
|
rs371488302
|
0.00004
|
NM_000335.5(SCN5A):c.5792C>T (p.Ala1931Val)
|
rs371194826
|
0.00004
|
NM_001005242.3(PKP2):c.2233A>G (p.Ile745Val)
|
rs551045165
|
0.00004
|
NM_001005242.3(PKP2):c.464G>C (p.Ser155Thr)
|
rs141438322
|
0.00004
|
NM_001035.3(RYR2):c.12837G>A (p.Met4279Ile)
|
rs750117613
|
0.00004
|
NM_001035.3(RYR2):c.4692G>A (p.Met1564Ile)
|
rs201675951
|
0.00004
|
NM_001148.6(ANK2):c.7105G>T (p.Val2369Phe)
|
rs758054052
|
0.00004
|
NM_001267550.2(TTN):c.2494G>T (p.Ala832Ser)
|
rs376133574
|
0.00004
|
NM_001267550.2(TTN):c.31472T>C (p.Met10491Thr)
|
rs769226745
|
0.00004
|
NM_001267550.2(TTN):c.40558+1G>A
|
rs368219776
|
0.00004
|
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter)
|
rs574660186
|
0.00004
|
NM_001267550.2(TTN):c.6958C>T (p.Arg2320Cys)
|
rs776478343
|
0.00004
|
NM_001318895.3(FHL2):c.121G>A (p.Glu41Lys)
|
rs552625336
|
0.00004
|
NM_001318895.3(FHL2):c.430A>G (p.Lys144Glu)
|
rs770284685
|
0.00004
|
NM_001318895.3(FHL2):c.782G>A (p.Arg261His)
|
rs371759004
|
0.00004
|
NM_001318895.3(FHL2):c.84C>T (p.Cys28=)
|
rs375234968
|
0.00004
|
NM_001386795.1(DTNA):c.2168C>T (p.Thr723Met)
|
rs200977103
|
0.00004
|
NM_001943.5(DSG2):c.2328C>A (p.Phe776Leu)
|
rs771104668
|
0.00004
|
NM_004006.3(DMD):c.2251C>T (p.Arg751Trp)
|
rs373475448
|
0.00004
|
NM_004415.4(DSP):c.137G>A (p.Gly46Asp)
|
rs140403872
|
0.00004
|
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys)
|
rs367752002
|
0.00004
|
NM_004415.4(DSP):c.4490G>A (p.Arg1497Gln)
|
rs727505037
|
0.00004
|
NM_004415.4(DSP):c.8117A>T (p.Lys2706Met)
|
rs537588390
|
0.00004
|
NM_005477.3(HCN4):c.559G>A (p.Ala187Thr)
|
rs761571946
|
0.00004
|
NM_005633.4(SOS1):c.2156G>C (p.Gly719Ala)
|
rs200794965
|
0.00004
|
NM_005681.4(TAF1A):c.1021G>A (p.Gly341Arg)
|
rs765321518
|
0.00004
|
NM_006393.3(NEBL):c.1008+15G>A
|
rs375728589
|
0.00004
|
NM_006393.3(NEBL):c.1108C>A (p.Gln370Lys)
|
rs146198369
|
0.00004
|
NM_006393.3(NEBL):c.1116+17G>C
|
rs370094745
|
0.00004
|
NM_006393.3(NEBL):c.1205A>C (p.Tyr402Ser)
|
rs375569591
|
0.00004
|
NM_006393.3(NEBL):c.1227+4C>T
|
rs373813159
|
0.00004
|
NM_006393.3(NEBL):c.1316G>A (p.Arg439Gln)
|
rs755916272
|
0.00004
|
NM_006393.3(NEBL):c.1339-19_1339-18insC
|
rs762491132
|
0.00004
|
NM_006393.3(NEBL):c.1667G>C (p.Ser556Thr)
|
rs373244101
|
0.00004
|
NM_006393.3(NEBL):c.182C>T (p.Ser61Phe)
|
rs543765307
|
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.1997C>T (p.Pro666Leu)
|
rs771905060
|
0.00004
|
NM_006393.3(NEBL):c.2006T>C (p.Met669Thr)
|
rs375197621
|
0.00004
|
NM_006393.3(NEBL):c.2012C>T (p.Pro671Leu)
|
rs770107953
|
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.2323del (p.Glu775fs)
|
rs776502857
|
0.00004
|
NM_006393.3(NEBL):c.2347-9C>T
|
rs750957531
|
0.00004
|
NM_006393.3(NEBL):c.241G>A (p.Gly81Ser)
|
rs369862013
|
0.00004
|
NM_006393.3(NEBL):c.2445G>A (p.Val815=)
|
rs578252294
|
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.2718C>A (p.Ser906Arg)
|
rs768402237
|
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.310C>T (p.Arg104Trp)
|
rs548671032
|
0.00004
|
NM_006393.3(NEBL):c.311G>A (p.Arg104Gln)
|
rs537661572
|
0.00004
|
NM_006393.3(NEBL):c.412G>C (p.Asp138His)
|
rs561316471
|
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.625G>A (p.Ala209Thr)
|
rs142138590
|
0.00004
|
NM_006393.3(NEBL):c.715A>G (p.Met239Val)
|
rs1037792824
|
0.00004
|
NM_006393.3(NEBL):c.721G>A (p.Asp241Asn)
|
rs372364915
|
0.00004
|
NM_006393.3(NEBL):c.798+7T>A
|
rs771324301
|
0.00004
|
NM_006393.3(NEBL):c.815A>G (p.Asp272Gly)
|
rs778861859
|
0.00004
|
NM_006393.3(NEBL):c.872A>G (p.His291Arg)
|
rs147853594
|
0.00004
|
NM_006393.3(NEBL):c.903+12A>G
|
rs745380674
|
0.00004
|
NM_006393.3(NEBL):c.903C>T (p.Gly301=)
|
rs200799762
|
0.00004
|
NM_006440.5(TXNRD2):c.1001C>T (p.Thr334Ile)
|
rs780014083
|
0.00004
|
NM_006440.5(TXNRD2):c.1054C>A (p.Pro352Thr)
|
rs1388529732
|
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.1376T>C (p.Leu459Pro)
|
rs776104767
|
0.00004
|
NM_006440.5(TXNRD2):c.139G>A (p.Gly47Arg)
|
rs759298418
|
0.00004
|
NM_006440.5(TXNRD2):c.1406A>G (p.Asn469Ser)
|
rs757704344
|
0.00004
|
NM_006440.5(TXNRD2):c.1436T>C (p.Leu479Pro)
|
rs756559860
|
0.00004
|
NM_006440.5(TXNRD2):c.1514T>A (p.Val505Asp)
|
rs759613137
|
0.00004
|
NM_006440.5(TXNRD2):c.1522C>T (p.Arg508Cys)
|
rs368176907
|
0.00004
|
NM_006440.5(TXNRD2):c.40C>T (p.Arg14Cys)
|
rs1259706318
|
0.00004
|
NM_006440.5(TXNRD2):c.449+4C>T
|
rs755751835
|
0.00004
|
NM_006440.5(TXNRD2):c.461A>T (p.Tyr154Phe)
|
rs886509891
|
0.00004
|
NM_006440.5(TXNRD2):c.507C>T (p.Gly169=)
|
rs374068797
|
0.00004
|
NM_006440.5(TXNRD2):c.595G>A (p.Glu199Lys)
|
rs763888077
|
0.00004
|
NM_006440.5(TXNRD2):c.760C>T (p.Arg254Cys)
|
rs183950022
|
0.00004
|
NM_006440.5(TXNRD2):c.949+13C>T
|
rs540907669
|
0.00004
|
NM_014391.3(ANKRD1):c.821A>G (p.Tyr274Cys)
|
rs374486076
|
0.00004
|
NM_014391.3(ANKRD1):c.838A>G (p.Ile280Val)
|
rs144770680
|
0.00004
|
NM_014391.3(ANKRD1):c.881A>G (p.His294Arg)
|
rs754657888
|
0.00004
|
NM_015978.3(TNNI3K):c.500T>C (p.Phe167Ser)
|
rs201917013
|
0.00004
|
NM_017780.4(CHD7):c.4516G>A (p.Gly1506Ser)
|
rs750258756
|
0.00004
|
NM_020433.5(JPH2):c.1282C>T (p.Gln428Ter)
|
rs199896820
|
0.00004
|
NM_133379.5(TTN):c.16516G>T (p.Glu5506Ter)
|
rs148430495
|
0.00004
|
NM_170707.4(LMNA):c.1556C>T (p.Thr519Ile)
|
rs753988867
|
0.00004
|
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln)
|
rs59301204
|
0.00004
|
NM_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val)
|
rs200909606
|
0.00003
|
NM_000219.6(KCNE1):c.173C>T (p.Thr58Ile)
|
rs747321794
|
0.00003
|
NM_000257.4(MYH7):c.161G>A (p.Arg54Gln)
|
rs397516117
|
0.00003
|
NM_000337.6(SGCD):c.699+72A>C
|
rs376317697
|
0.00003
|
NM_000426.4(LAMA2):c.2735C>T (p.Ala912Val)
|
rs376580266
|
0.00003
|
NM_001005242.3(PKP2):c.1404T>A (p.Asn468Lys)
|
rs1208347768
|
0.00003
|
NM_001018005.2(TPM1):c.845C>G (p.Thr282Ser)
|
rs397516395
|
0.00003
|
NM_001035.3(RYR2):c.8209-4T>C
|
rs371966353
|
0.00003
|
NM_001077653.2(TBX20):c.994C>T (p.Pro332Ser)
|
rs201431768
|
0.00003
|
NM_001267550.2(TTN):c.1245+3A>G
|
rs757221300
|
0.00003
|
NM_001267550.2(TTN):c.26893G>A (p.Glu8965Lys)
|
rs200325324
|
0.00003
|
NM_001267550.2(TTN):c.31594G>A (p.Val10532Ile)
|
rs763955552
|
0.00003
|
NM_001267550.2(TTN):c.41641C>T (p.Arg13881Ter)
|
rs747469275
|
0.00003
|
NM_001267550.2(TTN):c.46079T>C (p.Ile15360Thr)
|
rs1465320800
|
0.00003
|
NM_001267550.2(TTN):c.49648+2del
|
rs727504851
|
0.00003
|
NM_001267550.2(TTN):c.88421G>A (p.Trp29474Ter)
|
rs869025546
|
0.00003
|
NM_001267550.2(TTN):c.90913T>C (p.Tyr30305His)
|
rs544353741
|
0.00003
|
NM_001267550.2(TTN):c.9164-2A>T
|
rs777369921
|
0.00003
|
NM_001267550.2(TTN):c.9884C>T (p.Thr3295Met)
|
rs191708454
|
0.00003
|
NM_001276345.2(TNNT2):c.436G>A (p.Glu146Lys)
|
rs371142225
|
0.00003
|
NM_001289808.2(CRYAB):c.31C>T (p.Arg11Cys)
|
rs781902168
|
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.281C>T (p.Ser94Phe)
|
rs201826187
|
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_001318895.3(FHL2):c.487G>A (p.Val163Ile)
|
rs753660280
|
0.00003
|
NM_001318895.3(FHL2):c.688G>A (p.Gly230Arg)
|
rs534279240
|
0.00003
|
NM_001943.5(DSG2):c.3040G>A (p.Val1014Ile)
|
rs200830807
|
0.00003
|
NM_002471.4(MYH6):c.3583C>T (p.Arg1195Cys)
|
rs769756450
|
0.00003
|
NM_003673.4(TCAP):c.259C>T (p.Arg87Trp)
|
rs777518512
|
0.00003
|
NM_004415.4(DSP):c.344A>G (p.Asn115Ser)
|
rs28763958
|
0.00003
|
NM_004415.4(DSP):c.3650C>T (p.Thr1217Met)
|
rs535202724
|
0.00003
|
NM_004415.4(DSP):c.5066T>C (p.Ile1689Thr)
|
rs869025394
|
0.00003
|
NM_004517.4(ILK):c.734T>A (p.Phe245Tyr)
|
rs869025438
|
0.00003
|
NM_005572.4(LMNA):c.1712G>A (p.Arg571His)
|
rs200917748
|
0.00003
|
NM_006393.3(NEBL):c.113G>T (p.Ser38Ile)
|
rs375265257
|
0.00003
|
NM_006393.3(NEBL):c.153+15T>G
|
rs397517204
|
0.00003
|
NM_006393.3(NEBL):c.1639C>T (p.Arg547Ter)
|
rs149647815
|
0.00003
|
NM_006393.3(NEBL):c.1689A>G (p.Glu563=)
|
rs1423516014
|
0.00003
|
NM_006393.3(NEBL):c.1776+10_1776+11insGCT
|
rs752802559
|
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.2041G>A (p.Glu681Lys)
|
rs1060503679
|
0.00003
|
NM_006393.3(NEBL):c.2148+1G>A
|
rs762179161
|
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.2401G>A (p.Val801Met)
|
rs772136984
|
0.00003
|
NM_006393.3(NEBL):c.2518+6C>G
|
rs771316603
|
0.00003
|
NM_006393.3(NEBL):c.2533C>T (p.Arg845Cys)
|
rs776914197
|
0.00003
|
NM_006393.3(NEBL):c.2596C>T (p.Leu866Phe)
|
rs373721327
|
0.00003
|
NM_006393.3(NEBL):c.2644C>T (p.Arg882Ter)
|
rs151012132
|
0.00003
|
NM_006393.3(NEBL):c.2667C>T (p.Phe889=)
|
rs780103943
|
0.00003
|
NM_006393.3(NEBL):c.2841G>A (p.Met947Ile)
|
rs745574506
|
0.00003
|
NM_006393.3(NEBL):c.498C>T (p.Asp166=)
|
rs371105861
|
0.00003
|
NM_006393.3(NEBL):c.536G>A (p.Arg179Gln)
|
rs750476653
|
0.00003
|
NM_006393.3(NEBL):c.670A>G (p.Lys224Glu)
|
rs148079637
|
0.00003
|
NM_006393.3(NEBL):c.795C>G (p.Ser265Arg)
|
rs368513995
|
0.00003
|
NM_006393.3(NEBL):c.798+1G>A
|
rs746179839
|
0.00003
|
NM_006393.3(NEBL):c.81+8A>G
|
rs371780063
|
0.00003
|
NM_006393.3(NEBL):c.903+1G>T
|
rs775057540
|
0.00003
|
NM_006393.3(NEBL):c.904C>T (p.Arg302Ter)
|
rs149737043
|
0.00003
|
NM_006440.5(TXNRD2):c.1037G>A (p.Arg346Gln)
|
rs201349663
|
0.00003
|
NM_006440.5(TXNRD2):c.1446G>T (p.Lys482Asn)
|
rs371797598
|
0.00003
|
NM_006440.5(TXNRD2):c.1453G>T (p.Ala485Ser)
|
rs960962542
|
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.1535G>A (p.Arg512His)
|
rs375708279
|
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.544G>A (p.Asp182Asn)
|
rs752857898
|
0.00003
|
NM_006440.5(TXNRD2):c.572G>A (p.Arg191Gln)
|
rs730880248
|
0.00003
|
NM_006440.5(TXNRD2):c.846G>A (p.Ser282=)
|
rs373979565
|
0.00003
|
NM_014391.3(ANKRD1):c.*627A>G
|
rs886047475
|
0.00003
|
NM_020297.4(ABCC9):c.1985T>C (p.Leu662Pro)
|
rs869025346
|
0.00003
|
NM_022114.4(PRDM16):c.872C>T (p.Pro291Leu)
|
rs397514744
|
0.00003
|
NM_032578.4(MYPN):c.2150C>T (p.Thr717Met)
|
rs141276802
|
0.00003
|
NM_133379.5(TTN):c.12538T>A (p.Cys4180Ser)
|
rs548549470
|
0.00003
|
NM_170707.4(LMNA):c.1001G>A (p.Ser334Asn)
|
rs370656306
|
0.00003
|
NM_170707.4(LMNA):c.937-8C>A
|
rs751707982
|
0.00003
|
NM_000116.5(TAFAZZIN):c.*33G>A
|
rs782129745
|
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_000256.3(MYBPC3):c.1814A>G (p.Asp605Gly)
|
rs372371774
|
0.00002
|
NM_000257.4(MYH7):c.1856C>T (p.Thr619Ile)
|
rs541143322
|
0.00002
|
NM_000257.4(MYH7):c.4499G>A (p.Arg1500Gln)
|
rs121913647
|
0.00002
|
NM_000335.5(SCN5A):c.2014G>A (p.Ala672Thr)
|
rs199473140
|
0.00002
|
NM_000337.6(SGCD):c.32G>A (p.Arg11Gln)
|
rs752548592
|
0.00002
|
NM_001005242.3(PKP2):c.2068A>G (p.Thr690Ala)
|
rs867374780
|
0.00002
|
NM_001032283.3(TMPO):c.370C>T (p.Leu124Phe)
|
rs375619307
|
0.00002
|
NM_001267550.2(TTN):c.107377+1G>A
|
rs112188483
|
0.00002
|
NM_001267550.2(TTN):c.26765G>A (p.Arg8922Gln)
|
rs397517520
|
0.00002
|
NM_001267550.2(TTN):c.33164C>T (p.Pro11055Leu)
|
rs193051231
|
0.00002
|
NM_001267550.2(TTN):c.80858C>T (p.Thr26953Met)
|
rs377506142
|
0.00002
|
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs)
|
rs397517776
|
0.00002
|
NM_001276345.2(TNNT2):c.544G>T (p.Ala182Ser)
|
rs730881097
|
0.00002
|
NM_001318895.3(FHL2):c.175C>T (p.Arg59Trp)
|
rs753335287
|
0.00002
|
NM_001318895.3(FHL2):c.186T>C (p.His62=)
|
rs1462640060
|
0.00002
|
NM_001318895.3(FHL2):c.274T>C (p.Cys92Arg)
|
rs149138019
|
0.00002
|
NM_001318895.3(FHL2):c.275G>A (p.Cys92Tyr)
|
rs765835400
|
0.00002
|
NM_001318895.3(FHL2):c.332-6T>A
|
rs754744445
|
0.00002
|
NM_001318895.3(FHL2):c.502-16C>T
|
rs1278363053
|
0.00002
|
NM_001318895.3(FHL2):c.644A>C (p.Asp215Ala)
|
rs758618755
|
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_001458.5(FLNC):c.5408G>A (p.Arg1803Gln)
|
rs757482925
|
0.00002
|
NM_001927.4(DES):c.1048C>T (p.Arg350Trp)
|
rs62636492
|
0.00002
|
NM_002667.5(PLN):c.116T>G (p.Leu39Ter)
|
rs111033560
|
0.00002
|
NM_003239.5(TGFB3):c.883G>C (p.Gly295Arg)
|
rs766164843
|
0.00002
|
NM_006393.3(NEBL):c.1110A>C (p.Gln370His)
|
rs1267119039
|
0.00002
|
NM_006393.3(NEBL):c.1279C>T (p.Leu427Phe)
|
rs770142870
|
0.00002
|
NM_006393.3(NEBL):c.1429G>C (p.Ala477Pro)
|
rs758358892
|
0.00002
|
NM_006393.3(NEBL):c.16T>C (p.Phe6Leu)
|
rs777445403
|
0.00002
|
NM_006393.3(NEBL):c.1963-13C>T
|
rs727504904
|
0.00002
|
NM_006393.3(NEBL):c.1978C>A (p.Gln660Lys)
|
rs11012351
|
0.00002
|
NM_006393.3(NEBL):c.2026G>A (p.Val676Met)
|
rs149878829
|
0.00002
|
NM_006393.3(NEBL):c.2043G>A (p.Glu681=)
|
rs763968575
|
0.00002
|
NM_006393.3(NEBL):c.2044C>T (p.Gln682Ter)
|
rs763512999
|
0.00002
|
NM_006393.3(NEBL):c.205A>G (p.Thr69Ala)
|
rs780384504
|
0.00002
|
NM_006393.3(NEBL):c.2104C>T (p.Pro702Ser)
|
rs780795108
|
0.00002
|
NM_006393.3(NEBL):c.2108A>G (p.Glu703Gly)
|
rs907637021
|
0.00002
|
NM_006393.3(NEBL):c.2148+19C>A
|
rs769120353
|
0.00002
|
NM_006393.3(NEBL):c.218T>C (p.Met73Thr)
|
rs374218451
|
0.00002
|
NM_006393.3(NEBL):c.2241G>A (p.Ser747=)
|
rs377702958
|
0.00002
|
NM_006393.3(NEBL):c.2242-16A>G
|
rs757332145
|
0.00002
|
NM_006393.3(NEBL):c.2310G>A (p.Met770Ile)
|
rs200334335
|
0.00002
|
NM_006393.3(NEBL):c.2329C>T (p.Gln777Ter)
|
rs752922937
|
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.2485G>A (p.Val829Met)
|
rs727504979
|
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.2645G>A (p.Arg882Gln)
|
rs758877499
|
0.00002
|
NM_006393.3(NEBL):c.2757A>G (p.Glu919=)
|
rs878854903
|
0.00002
|
NM_006393.3(NEBL):c.2868A>G (p.Leu956=)
|
rs779415582
|
0.00002
|
NM_006393.3(NEBL):c.2869-10C>G
|
rs373167913
|
0.00002
|
NM_006393.3(NEBL):c.36A>C (p.Glu12Asp)
|
rs368491819
|
0.00002
|
NM_006393.3(NEBL):c.571A>T (p.Ile191Phe)
|
rs746403443
|
0.00002
|
NM_006393.3(NEBL):c.599G>C (p.Gly200Ala)
|
rs727503336
|
0.00002
|
NM_006393.3(NEBL):c.650A>G (p.Glu217Gly)
|
rs755291598
|
0.00002
|
NM_006393.3(NEBL):c.807C>G (p.Tyr269Ter)
|
rs748781067
|
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.104-3C>G
|
rs746380381
|
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.1090C>T (p.Arg364Trp)
|
rs772667712
|
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.1123G>A (p.Gly375Arg)
|
rs757239766
|
0.00002
|
NM_006440.5(TXNRD2):c.112C>T (p.Arg38Trp)
|
rs1044687486
|
0.00002
|
NM_006440.5(TXNRD2):c.1152C>T (p.Gly384=)
|
rs766934707
|
0.00002
|
NM_006440.5(TXNRD2):c.1321C>T (p.Arg441Ter)
|
rs200162480
|
0.00002
|
NM_006440.5(TXNRD2):c.1322G>A (p.Arg441Gln)
|
rs759374389
|
0.00002
|
NM_006440.5(TXNRD2):c.1348-9G>A
|
rs774694967
|
0.00002
|
NM_006440.5(TXNRD2):c.1398T>C (p.Leu466=)
|
rs781691483
|
0.00002
|
NM_006440.5(TXNRD2):c.1463C>T (p.Ala488Val)
|
rs752947034
|
0.00002
|
NM_006440.5(TXNRD2):c.1534C>T (p.Arg512Cys)
|
rs201943415
|
0.00002
|
NM_006440.5(TXNRD2):c.214G>A (p.Glu72Lys)
|
rs779740988
|
0.00002
|
NM_006440.5(TXNRD2):c.230-9A>G
|
rs368172149
|
0.00002
|
NM_006440.5(TXNRD2):c.361G>A (p.Val121Met)
|
rs756368327
|
0.00002
|
NM_006440.5(TXNRD2):c.417del (p.Asn140fs)
|
rs780054798
|
0.00002
|
NM_006440.5(TXNRD2):c.529-5C>T
|
rs766288973
|
0.00002
|
NM_006440.5(TXNRD2):c.571C>T (p.Arg191Trp)
|
rs751123675
|
0.00002
|
NM_006440.5(TXNRD2):c.847C>T (p.Arg283Trp)
|
rs200981451
|
0.00002
|
NM_006440.5(TXNRD2):c.868G>A (p.Gly290Ser)
|
rs777357363
|
0.00002
|
NM_006440.5(TXNRD2):c.869G>T (p.Gly290Val)
|
rs543290126
|
0.00002
|
NM_006440.5(TXNRD2):c.918G>A (p.Thr306=)
|
rs763086193
|
0.00002
|
NM_006440.5(TXNRD2):c.969A>C (p.Arg323Ser)
|
rs765171416
|
0.00002
|
NM_007078.3(LDB3):c.1703G>A (p.Arg568His)
|
rs769156627
|
0.00002
|
NM_014391.3(ANKRD1):c.909C>T (p.Phe303=)
|
rs765093690
|
0.00002
|
NM_014476.6(PDLIM3):c.476T>A (p.Ile159Asn)
|
rs730880177
|
0.00002
|
NM_020433.5(JPH2):c.1564C>T (p.Arg522Trp)
|
rs770850932
|
0.00002
|
NM_024422.6(DSC2):c.394C>T (p.Arg132Cys)
|
rs727504578
|
0.00002
|
NM_032578.4(MYPN):c.458A>G (p.Lys153Arg)
|
rs199476401
|
0.00002
|
NM_133379.5(TTN):c.13022C>G (p.Ser4341Ter)
|
rs763408700
|
0.00002
|
NM_170707.4(LMNA):c.1960C>T (p.Arg654Ter)
|
rs267607544
|
0.00002
|
NM_170707.4(LMNA):c.294G>A (p.Glu98=)
|
rs886045363
|
0.00002
|
NM_170707.4(LMNA):c.295C>A (p.Arg99Ser)
|
rs886045364
|
0.00002
|
NM_170707.4(LMNA):c.884C>T (p.Ser295Leu)
|
rs769210828
|
0.00002
|
NM_170707.4(LMNA):c.986G>A (p.Arg329His)
|
rs397517913
|
0.00002
|
NM_182914.3(SYNE2):c.9392A>G (p.Asp3131Gly)
|
rs730880220
|
0.00002
|
NM_000116.5(TAFAZZIN):c.535C>G (p.Pro179Ala)
|
rs397515744
|
0.00001
|
NM_000116.5(TAFAZZIN):c.675G>A (p.Pro225=)
|
rs201046790
|
0.00001
|
NM_000232.5(SGCB):c.1A>G (p.Met1Val)
|
rs398123262
|
0.00001
|
NM_000232.5(SGCB):c.680G>A (p.Arg227His)
|
rs762079028
|
0.00001
|
NM_000256.3(MYBPC3):c.1433C>T (p.Ser478Leu)
|
rs730880540
|
0.00001
|
NM_000256.3(MYBPC3):c.821+1G>A
|
rs397516073
|
0.00001
|
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys)
|
rs121913625
|
0.00001
|
NM_000257.4(MYH7):c.1700G>A (p.Arg567His)
|
rs377491278
|
0.00001
|
NM_000257.4(MYH7):c.2508C>G (p.Ile836Met)
|
rs772442923
|
0.00001
|
NM_000257.4(MYH7):c.3866G>A (p.Arg1289Gln)
|
rs1287612987
|
0.00001
|
NM_000257.4(MYH7):c.4822C>T (p.Arg1608Cys)
|
rs746571601
|
0.00001
|
NM_000257.4(MYH7):c.5030G>A (p.Arg1677His)
|
rs730880914
|
0.00001
|
NM_000257.4(MYH7):c.5530G>A (p.Glu1844Lys)
|
rs730880821
|
0.00001
|
NM_000257.4(MYH7):c.5588G>A (p.Arg1863Gln)
|
rs45520836
|
0.00001
|
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp)
|
rs45516091
|
0.00001
|
NM_000257.4(MYH7):c.821T>C (p.Ile274Thr)
|
rs773456019
|
0.00001
|
NM_000335.5(SCN5A):c.1036G>A (p.Glu346Lys)
|
rs368552426
|
0.00001
|
NM_000335.5(SCN5A):c.1604G>A (p.Arg535Gln)
|
rs199473121
|
0.00001
|
NM_000335.5(SCN5A):c.2314G>A (p.Asp772Asn)
|
rs199473157
|
0.00001
|
NM_000335.5(SCN5A):c.3371C>G (p.Ala1124Gly)
|
rs730880206
|
0.00001
|
NM_000335.5(SCN5A):c.5100G>T (p.Met1700Ile)
|
rs769843988
|
0.00001
|
NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln)
|
rs45546039
|
0.00001
|
NM_000363.5(TNNI3):c.24+2T>A
|
rs777702465
|
0.00001
|
NM_000426.4(LAMA2):c.470C>G (p.Ser157Cys)
|
rs756699354
|
0.00001
|
NM_000432.4(MYL2):c.31G>A (p.Gly11Arg)
|
rs397516402
|
0.00001
|
NM_001018005.2(TPM1):c.257C>G (p.Ala86Gly)
|
rs757577112
|
0.00001
|
NM_001018005.2(TPM1):c.850A>G (p.Ile284Val)
|
rs199476322
|
0.00001
|
NM_001032283.3(TMPO):c.565+1165G>C
|
rs191275106
|
0.00001
|
NM_001035.3(RYR2):c.1699G>C (p.Ala567Pro)
|
rs753758467
|
0.00001
|
NM_001035.3(RYR2):c.2203+3_2203+4dup
|
rs730880376
|
0.00001
|
NM_001105206.3(LAMA4):c.1121G>A (p.Ser374Asn)
|
rs869025449
|
0.00001
|
NM_001105206.3(LAMA4):c.188C>T (p.Ala63Val)
|
rs370868386
|
0.00001
|
NM_001134363.3(RBM20):c.1013T>C (p.Met338Thr)
|
rs876657970
|
0.00001
|
NM_001134363.3(RBM20):c.1281G>A (p.Trp427Ter)
|
rs869025504
|
0.00001
|
NM_001134363.3(RBM20):c.1898C>T (p.Pro633Leu)
|
rs747880281
|
0.00001
|
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His)
|
rs267607004
|
0.00001
|
NM_001134363.3(RBM20):c.2176C>T (p.Arg726Ter)
|
rs1393804220
|
0.00001
|
NM_001134363.3(RBM20):c.2382A>C (p.Arg794Ser)
|
rs999008497
|
0.00001
|
NM_001134363.3(RBM20):c.3076G>A (p.Glu1026Lys)
|
rs866975469
|
0.00001
|
NM_001134363.3(RBM20):c.686A>G (p.Tyr229Cys)
|
rs1478721868
|
0.00001
|
NM_001256850.1(TTN):c.51809dup (p.Asp17270fs)
|
rs397517626
|
0.00001
|
NM_001267550.2(TTN):c.103408G>T (p.Glu34470Ter)
|
rs769023413
|
0.00001
|
NM_001267550.2(TTN):c.103540G>A (p.Val34514Ile)
|
rs769311670
|
0.00001
|
NM_001267550.2(TTN):c.104092C>T (p.Arg34698Ter)
|
rs727504184
|
0.00001
|
NM_001267550.2(TTN):c.104347C>T (p.Leu34783Phe)
|
rs539735520
|
0.00001
|
NM_001267550.2(TTN):c.104947C>T (p.Gln34983Ter)
|
rs991187915
|
0.00001
|
NM_001267550.2(TTN):c.10592C>G (p.Ser3531Ter)
|
rs767420661
|
0.00001
|
NM_001267550.2(TTN):c.106342C>T (p.Arg35448Trp)
|
rs530453291
|
0.00001
|
NM_001267550.2(TTN):c.10852C>T (p.Gln3618Ter)
|
rs779064556
|
0.00001
|
NM_001267550.2(TTN):c.12026A>G (p.Tyr4009Cys)
|
rs753367343
|
0.00001
|
NM_001267550.2(TTN):c.14093-1G>A
|
rs869312099
|
0.00001
|
NM_001267550.2(TTN):c.21142C>T (p.Arg7048Ter)
|
rs770579313
|
0.00001
|
NM_001267550.2(TTN):c.23386C>T (p.Arg7796Ter)
|
rs748111134
|
0.00001
|
NM_001267550.2(TTN):c.27328+5G>A
|
rs397517521
|
0.00001
|
NM_001267550.2(TTN):c.27607G>A (p.Glu9203Lys)
|
rs769097909
|
0.00001
|
NM_001267550.2(TTN):c.27914G>A (p.Arg9305Gln)
|
rs397517527
|
0.00001
|
NM_001267550.2(TTN):c.3011A>C (p.Glu1004Ala)
|
rs1413214135
|
0.00001
|
NM_001267550.2(TTN):c.31426+1G>C
|
rs6749719
|
0.00001
|
NM_001267550.2(TTN):c.325C>T (p.Arg109Ter)
|
rs150954246
|
0.00001
|
NM_001267550.2(TTN):c.33418+1G>A
|
rs746588865
|
0.00001
|
NM_001267550.2(TTN):c.35338G>A (p.Glu11780Lys)
|
rs2066744414
|
0.00001
|
NM_001267550.2(TTN):c.41282G>A (p.Arg13761His)
|
rs781139091
|
0.00001
|
NM_001267550.2(TTN):c.43600C>T (p.Gln14534Ter)
|
rs727504499
|
0.00001
|
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter)
|
rs140743001
|
0.00001
|
NM_001267550.2(TTN):c.45307C>T (p.Arg15103Ter)
|
rs397517580
|
0.00001
|
NM_001267550.2(TTN):c.47495G>A (p.Arg15832Gln)
|
rs376140223
|
0.00001
|
NM_001267550.2(TTN):c.48527G>A (p.Trp16176Ter)
|
rs869312048
|
0.00001
|
NM_001267550.2(TTN):c.50170C>T (p.Arg16724Ter)
|
rs794729265
|
0.00001
|
NM_001267550.2(TTN):c.50999G>A (p.Arg17000Lys)
|
rs767481574
|
0.00001
|
NM_001267550.2(TTN):c.51436+1G>A
|
rs761807131
|
0.00001
|
NM_001267550.2(TTN):c.52021C>T (p.Arg17341Ter)
|
rs926741242
|
0.00001
|
NM_001267550.2(TTN):c.57544+4A>G
|
rs869312053
|
0.00001
|
NM_001267550.2(TTN):c.57995del (p.His19332fs)
|
rs397517633
|
0.00001
|
NM_001267550.2(TTN):c.58732+2T>C
|
rs869312054
|
0.00001
|
NM_001267550.2(TTN):c.59693G>A (p.Trp19898Ter)
|
rs974671846
|
0.00001
|
NM_001267550.2(TTN):c.59920C>A (p.Pro19974Thr)
|
rs778877970
|
0.00001
|
NM_001267550.2(TTN):c.6355G>T (p.Glu2119Ter)
|
rs869312098
|
0.00001
|
NM_001267550.2(TTN):c.66283C>T (p.Arg22095Trp)
|
rs571093313
|
0.00001
|
NM_001267550.2(TTN):c.6915G>T (p.Glu2305Asp)
|
rs778211562
|
0.00001
|
NM_001267550.2(TTN):c.71348G>A (p.Arg23783His)
|
rs145504744
|
0.00001
|
NM_001267550.2(TTN):c.71881G>A (p.Val23961Ile)
|
rs397517690
|
0.00001
|
NM_001267550.2(TTN):c.72669del (p.Asp24224fs)
|
rs727504531
|
0.00001
|
NM_001267550.2(TTN):c.74527A>G (p.Asn24843Asp)
|
rs373527654
|
0.00001
|
NM_001267550.2(TTN):c.75123T>A (p.Tyr25041Ter)
|
rs753526510
|
0.00001
|
NM_001267550.2(TTN):c.80716C>T (p.Arg26906Ter)
|
rs727505284
|
0.00001
|
NM_001267550.2(TTN):c.82525C>T (p.Arg27509Ter)
|
rs1575649368
|
0.00001
|
NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter)
|
rs770038577
|
0.00001
|
NM_001267550.2(TTN):c.9176A>T (p.Glu3059Val)
|
rs727504501
|
0.00001
|
NM_001267550.2(TTN):c.92780T>A (p.Ile30927Lys)
|
rs531432790
|
0.00001
|
NM_001267550.2(TTN):c.9448C>T (p.Arg3150Ter)
|
rs146572907
|
0.00001
|
NM_001267550.2(TTN):c.94748G>A (p.Arg31583His)
|
rs727503544
|
0.00001
|
NM_001267550.2(TTN):c.94855C>T (p.Arg31619Ter)
|
rs869312121
|
0.00001
|
NM_001267550.2(TTN):c.97050dup (p.Glu32351fs)
|
rs794729365
|
0.00001
|
NM_001267550.2(TTN):c.97192+4A>G
|
rs370069759
|
0.00001
|
NM_001267550.2(TTN):c.98465A>G (p.Asp32822Gly)
|
rs191054704
|
0.00001
|
NM_001267550.2(TTN):c.98506C>T (p.Arg32836Ter)
|
rs869312085
|
0.00001
|
NM_001267550.2(TTN):c.98917A>G (p.Ile32973Val)
|
rs773080115
|
0.00001
|
NM_001276345.2(TNNT2):c.452G>A (p.Arg151Gln)
|
rs730881101
|
0.00001
|
NM_001318895.3(FHL2):c.104T>G (p.Leu35Arg)
|
rs1470032926
|
0.00001
|
NM_001318895.3(FHL2):c.130G>A (p.Gly44Arg)
|
rs780938900
|
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.176G>A (p.Arg59Gln)
|
rs766070936
|
0.00001
|
NM_001318895.3(FHL2):c.193T>C (p.Cys65Arg)
|
rs768709080
|
0.00001
|
NM_001318895.3(FHL2):c.211T>G (p.Cys71Gly)
|
rs1255979544
|
0.00001
|
NM_001318895.3(FHL2):c.224T>G (p.Leu75Arg)
|
rs1208356626
|
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.406A>G (p.Ile136Val)
|
rs780774664
|
0.00001
|
NM_001318895.3(FHL2):c.502-11C>T
|
rs750695509
|
0.00001
|
NM_001318895.3(FHL2):c.509C>T (p.Thr170Ile)
|
rs750539692
|
0.00001
|
NM_001318895.3(FHL2):c.513G>A (p.Thr171=)
|
rs1018740778
|
0.00001
|
NM_001318895.3(FHL2):c.595C>T (p.Arg199Cys)
|
rs373259092
|
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_001318895.3(FHL2):c.72G>C (p.Glu24Asp)
|
rs781170250
|
0.00001
|
NM_001318895.3(FHL2):c.739G>A (p.Asp247Asn)
|
rs769888361
|
0.00001
|
NM_001318895.3(FHL2):c.815G>A (p.Cys272Tyr)
|
rs773266937
|
0.00001
|
NM_001386795.1(DTNA):c.2200G>A (p.Asp734Asn)
|
rs769251451
|
0.00001
|
NM_001458.5(FLNC):c.1468C>T (p.Arg490Cys)
|
rs1422233407
|
0.00001
|
NM_001458.5(FLNC):c.2263C>T (p.Arg755Trp)
|
rs990718751
|
0.00001
|
NM_001458.5(FLNC):c.490C>T (p.Arg164Trp)
|
rs1460797312
|
0.00001
|
NM_001927.4(DES):c.286G>T (p.Ala96Ser)
|
rs201190593
|
0.00001
|
NM_001943.5(DSG2):c.1072G>A (p.Ala358Thr)
|
rs758537946
|
0.00001
|
NM_001943.5(DSG2):c.1105A>G (p.Lys369Glu)
|
rs727505208
|
0.00001
|
NM_002230.4(JUP):c.1555C>G (p.Gln519Glu)
|
rs139454583
|
0.00001
|
NM_002294.3(LAMP2):c.214G>A (p.Val72Met)
|
rs778193991
|
0.00001
|
NM_002471.4(MYH6):c.3133A>G (p.Lys1045Glu)
|
rs869025474
|
0.00001
|
NM_002471.4(MYH6):c.4471G>A (p.Glu1491Lys)
|
rs1314169075
|
0.00001
|
NM_002667.5(PLN):c.73C>T (p.Arg25Cys)
|
rs761056344
|
0.00001
|
NM_002880.4(RAF1):c.1922C>T (p.Thr641Met)
|
rs587777587
|
0.00001
|
NM_003280.3(TNNC1):c.442A>G (p.Ile148Val)
|
rs397516848
|
0.00001
|
NM_003319.4(TTN):c.16349dup (p.Phe5451fs)
|
rs752856716
|
0.00001
|
NM_003673.4(TCAP):c.157C>T (p.Gln53Ter)
|
rs104894655
|
0.00001
|
NM_003673.4(TCAP):c.49C>T (p.Arg17Cys)
|
rs869025530
|
0.00001
|
NM_004006.3(DMD):c.*39A>T
|
rs371730838
|
0.00001
|
NM_004006.3(DMD):c.2972A>G (p.Glu991Gly)
|
rs747374618
|
0.00001
|
NM_004006.3(DMD):c.4449G>A (p.Met1483Ile)
|
rs765355046
|
0.00001
|
NM_004168.4(SDHA):c.1234G>A (p.Gly412Ser)
|
rs768055345
|
0.00001
|
NM_004281.4(BAG3):c.322G>A (p.Val108Met)
|
rs730880053
|
0.00001
|
NM_004281.4(BAG3):c.367C>T (p.Arg123Ter)
|
rs387906875
|
0.00001
|
NM_004281.4(BAG3):c.55C>T (p.Arg19Cys)
|
rs727502896
|
0.00001
|
NM_004281.4(BAG3):c.881G>A (p.Arg294His)
|
rs151335530
|
0.00001
|
NM_004333.6(BRAF):c.1690A>G (p.Met564Val)
|
rs745783052
|
0.00001
|
NM_004415.4(DSP):c.3973A>C (p.Lys1325Gln)
|
rs41302883
|
0.00001
|
NM_004415.4(DSP):c.8477G>A (p.Arg2826His)
|
rs548754771
|
0.00001
|
NM_005633.4(SOS1):c.1820T>C (p.Ile607Thr)
|
rs758699499
|
0.00001
|
NM_005633.4(SOS1):c.2728G>C (p.Asp910His)
|
rs369277679
|
0.00001
|
NM_005633.4(SOS1):c.571G>A (p.Glu191Lys)
|
rs886041241
|
0.00001
|
NM_005751.5(AKAP9):c.2478A>G (p.Ile826Met)
|
rs777349648
|
0.00001
|
NM_005751.5(AKAP9):c.3448C>T (p.Leu1150Phe)
|
rs750350575
|
0.00001
|
NM_006393.3(NEBL):c.1003A>C (p.Ser335Arg)
|
rs771769135
|
0.00001
|
NM_006393.3(NEBL):c.103G>A (p.Glu35Lys)
|
rs878854902
|
0.00001
|
NM_006393.3(NEBL):c.1074A>G (p.Pro358=)
|
rs1180113998
|
0.00001
|
NM_006393.3(NEBL):c.1079A>T (p.Tyr360Phe)
|
rs1317887456
|
0.00001
|
NM_006393.3(NEBL):c.1130A>G (p.Glu377Gly)
|
rs373129570
|
0.00001
|
NM_006393.3(NEBL):c.1144G>A (p.Glu382Lys)
|
rs749629919
|
0.00001
|
NM_006393.3(NEBL):c.1207A>G (p.Ile403Val)
|
rs200534792
|
0.00001
|
NM_006393.3(NEBL):c.1208T>C (p.Ile403Thr)
|
rs766378863
|
0.00001
|
NM_006393.3(NEBL):c.1246T>G (p.Leu416Val)
|
rs1473800986
|
0.00001
|
NM_006393.3(NEBL):c.1346A>G (p.Tyr449Cys)
|
rs535927510
|
0.00001
|
NM_006393.3(NEBL):c.1367T>C (p.Ile456Thr)
|
rs761169055
|
0.00001
|
NM_006393.3(NEBL):c.1441G>A (p.Ala481Thr)
|
rs1291010559
|
0.00001
|
NM_006393.3(NEBL):c.1442C>T (p.Ala481Val)
|
rs1237891829
|
0.00001
|
NM_006393.3(NEBL):c.1449+8G>C
|
rs754000768
|
0.00001
|
NM_006393.3(NEBL):c.149G>A (p.Ser50Asn)
|
rs1207801626
|
0.00001
|
NM_006393.3(NEBL):c.153+5G>A
|
rs766864066
|
0.00001
|
NM_006393.3(NEBL):c.1541C>T (p.Ala514Val)
|
rs1256153819
|
0.00001
|
NM_006393.3(NEBL):c.1543T>A (p.Ser515Thr)
|
rs990217100
|
0.00001
|
NM_006393.3(NEBL):c.1546G>A (p.Glu516Lys)
|
rs45461595
|
0.00001
|
NM_006393.3(NEBL):c.1549A>G (p.Met517Val)
|
rs1430856878
|
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.157C>T (p.Arg53Cys)
|
rs759216770
|
0.00001
|
NM_006393.3(NEBL):c.1608G>T (p.Met536Ile)
|
rs794729078
|
0.00001
|
NM_006393.3(NEBL):c.1611A>C (p.Gln537His)
|
rs865956162
|
0.00001
|
NM_006393.3(NEBL):c.1613T>A (p.Val538Glu)
|
rs534382445
|
0.00001
|
NM_006393.3(NEBL):c.1632T>C (p.Asp544=)
|
rs1308048675
|
0.00001
|
NM_006393.3(NEBL):c.1773T>G (p.Ser591Arg)
|
rs1206155356
|
0.00001
|
NM_006393.3(NEBL):c.1776G>A (p.Ala592=)
|
rs113406843
|
0.00001
|
NM_006393.3(NEBL):c.1826C>G (p.Pro609Arg)
|
rs942030467
|
0.00001
|
NM_006393.3(NEBL):c.1879A>G (p.Lys627Glu)
|
rs766695780
|
0.00001
|
NM_006393.3(NEBL):c.1961A>T (p.Asn654Ile)
|
rs1839521789
|
0.00001
|
NM_006393.3(NEBL):c.1993A>C (p.Thr665Pro)
|
rs936216558
|
0.00001
|
NM_006393.3(NEBL):c.1996C>T (p.Pro666Ser)
|
rs772963438
|
0.00001
|
NM_006393.3(NEBL):c.2002A>G (p.Ser668Gly)
|
rs774221912
|
0.00001
|
NM_006393.3(NEBL):c.2016G>A (p.Glu672=)
|
rs757626106
|
0.00001
|
NM_006393.3(NEBL):c.2033G>A (p.Arg678Gln)
|
rs774294999
|
0.00001
|
NM_006393.3(NEBL):c.2055+8G>A
|
rs747359685
|
0.00001
|
NM_006393.3(NEBL):c.2105C>T (p.Pro702Leu)
|
rs1838860400
|
0.00001
|
NM_006393.3(NEBL):c.2174G>C (p.Arg725Thr)
|
rs772956028
|
0.00001
|
NM_006393.3(NEBL):c.2232T>C (p.Asn744=)
|
rs1588672485
|
0.00001
|
NM_006393.3(NEBL):c.2241+6T>C
|
rs757456889
|
0.00001
|
NM_006393.3(NEBL):c.2297A>T (p.Asp766Val)
|
rs1479921102
|
0.00001
|
NM_006393.3(NEBL):c.2308A>G (p.Met770Val)
|
rs745738658
|
0.00001
|
NM_006393.3(NEBL):c.2390T>C (p.Phe797Ser)
|
rs1838312385
|
0.00001
|
NM_006393.3(NEBL):c.2407G>A (p.Asp803Asn)
|
rs774594552
|
0.00001
|
NM_006393.3(NEBL):c.242G>C (p.Gly81Ala)
|
rs1442801795
|
0.00001
|
NM_006393.3(NEBL):c.2451C>T (p.Ser817=)
|
rs375714953
|
0.00001
|
NM_006393.3(NEBL):c.2507G>A (p.Gly836Glu)
|
rs768915725
|
0.00001
|
NM_006393.3(NEBL):c.2513T>C (p.Ile838Thr)
|
rs749452317
|
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.2588C>G (p.Ser863Cys)
|
rs150152361
|
0.00001
|
NM_006393.3(NEBL):c.2602A>G (p.Met868Val)
|
rs908360300
|
0.00001
|
NM_006393.3(NEBL):c.2607C>G (p.Leu869=)
|
rs773544548
|
0.00001
|
NM_006393.3(NEBL):c.2611+6A>G
|
rs762305537
|
0.00001
|
NM_006393.3(NEBL):c.2668G>A (p.Gly890Ser)
|
rs756192561
|
0.00001
|
NM_006393.3(NEBL):c.2679C>T (p.Leu893=)
|
rs1437022892
|
0.00001
|
NM_006393.3(NEBL):c.2681G>A (p.Gly894Glu)
|
rs876657926
|
0.00001
|
NM_006393.3(NEBL):c.2704G>A (p.Glu902Lys)
|
rs761425280
|
0.00001
|
NM_006393.3(NEBL):c.2761G>C (p.Ala921Pro)
|
rs1057518516
|
0.00001
|
NM_006393.3(NEBL):c.2820C>T (p.His940=)
|
rs532565487
|
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.2913C>T (p.Asp971=)
|
rs575423101
|
0.00001
|
NM_006393.3(NEBL):c.2914G>A (p.Glu972Lys)
|
rs1554769095
|
0.00001
|
NM_006393.3(NEBL):c.2931C>T (p.Asp977=)
|
rs375982678
|
0.00001
|
NM_006393.3(NEBL):c.2959A>G (p.Ile987Val)
|
rs746298728
|
0.00001
|
NM_006393.3(NEBL):c.2T>C (p.Met1Thr)
|
rs972622200
|
0.00001
|
NM_006393.3(NEBL):c.300T>C (p.Ser100=)
|
rs747440079
|
0.00001
|
NM_006393.3(NEBL):c.3028A>G (p.Ile1010Val)
|
rs1400947444
|
0.00001
|
NM_006393.3(NEBL):c.325A>G (p.Ile109Val)
|
rs750081149
|
0.00001
|
NM_006393.3(NEBL):c.340G>T (p.Ala114Ser)
|
rs996144249
|
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.463A>G (p.Asn155Asp)
|
rs1344682606
|
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.640C>G (p.Pro214Ala)
|
rs1392632186
|
0.00001
|
NM_006393.3(NEBL):c.684A>G (p.Gln228=)
|
rs533225203
|
0.00001
|
NM_006393.3(NEBL):c.685-1G>C
|
rs1843486814
|
0.00001
|
NM_006393.3(NEBL):c.686T>C (p.Ile229Thr)
|
rs774523404
|
0.00001
|
NM_006393.3(NEBL):c.738C>T (p.Tyr246=)
|
rs778455217
|
0.00001
|
NM_006393.3(NEBL):c.743C>T (p.Pro248Leu)
|
rs1409547551
|
0.00001
|
NM_006393.3(NEBL):c.798T>C (p.Asn266=)
|
rs770019579
|
0.00001
|
NM_006393.3(NEBL):c.799-4A>G
|
rs773699320
|
0.00001
|
NM_006393.3(NEBL):c.834T>A (p.Asp278Glu)
|
rs562939997
|
0.00001
|
NM_006393.3(NEBL):c.837A>G (p.Pro279=)
|
rs1211641825
|
0.00001
|
NM_006393.3(NEBL):c.857T>A (p.Leu286Ter)
|
rs752717041
|
0.00001
|
NM_006393.3(NEBL):c.901G>A (p.Gly301Ser)
|
rs773469997
|
0.00001
|
NM_006393.3(NEBL):c.903+18C>T
|
rs993846016
|
0.00001
|
NM_006393.3(NEBL):c.903+2dup
|
rs1473850704
|
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_006393.3(NEBL):c.986G>T (p.Gly329Val)
|
rs776185255
|
0.00001
|
NM_006393.3(NEBL):c.989A>G (p.Asn330Ser)
|
rs876657927
|
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.1078G>A (p.Val360Met)
|
rs747350610
|
0.00001
|
NM_006440.5(TXNRD2):c.1086+4C>T
|
rs753380240
|
0.00001
|
NM_006440.5(TXNRD2):c.1087-2A>G
|
rs1289412583
|
0.00001
|
NM_006440.5(TXNRD2):c.1131C>T (p.Leu377=)
|
rs773930137
|
0.00001
|
NM_006440.5(TXNRD2):c.113G>A (p.Arg38Gln)
|
rs777384922
|
0.00001
|
NM_006440.5(TXNRD2):c.1156T>C (p.Ser386Pro)
|
rs960610186
|
0.00001
|
NM_006440.5(TXNRD2):c.1169T>G (p.Met390Arg)
|
rs758236709
|
0.00001
|
NM_006440.5(TXNRD2):c.1194C>T (p.Thr398=)
|
rs372301925
|
0.00001
|
NM_006440.5(TXNRD2):c.1214A>G (p.Tyr405Cys)
|
rs934895346
|
0.00001
|
NM_006440.5(TXNRD2):c.1234G>A (p.Glu412Lys)
|
rs781432469
|
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.1285G>A (p.Ala429Thr)
|
rs767323099
|
0.00001
|
NM_006440.5(TXNRD2):c.1289A>C (p.His430Pro)
|
rs376463546
|
0.00001
|
NM_006440.5(TXNRD2):c.1331C>G (p.Ser444Cys)
|
rs749643976
|
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.1412G>A (p.Gly471Asp)
|
rs754916024
|
0.00001
|
NM_006440.5(TXNRD2):c.1414G>A (p.Glu472Lys)
|
rs766076027
|
0.00001
|
NM_006440.5(TXNRD2):c.1417G>A (p.Val473Ile)
|
rs760570314
|
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.1460A>G (p.Tyr487Cys)
|
rs367711380
|
0.00001
|
NM_006440.5(TXNRD2):c.1465C>T (p.Gln489Ter)
|
rs759650391
|
0.00001
|
NM_006440.5(TXNRD2):c.1480G>A (p.Val494Met)
|
rs762203465
|
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.172+3A>G
|
rs923193498
|
0.00001
|
NM_006440.5(TXNRD2):c.172G>A (p.Ala58Thr)
|
rs764378793
|
0.00001
|
NM_006440.5(TXNRD2):c.224C>T (p.Pro75Leu)
|
rs888739263
|
0.00001
|
NM_006440.5(TXNRD2):c.230-8C>T
|
rs750889743
|
0.00001
|
NM_006440.5(TXNRD2):c.238T>C (p.Trp80Arg)
|
rs762714876
|
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.338A>G (p.Tyr113Cys)
|
rs905391308
|
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.380A>G (p.Lys127Arg)
|
rs753524446
|
0.00001
|
NM_006440.5(TXNRD2):c.395T>C (p.Val132Ala)
|
rs1449070418
|
0.00001
|
NM_006440.5(TXNRD2):c.430C>T (p.Arg144Cys)
|
rs749157073
|
0.00001
|
NM_006440.5(TXNRD2):c.449+11T>C
|
rs767028260
|
0.00001
|
NM_006440.5(TXNRD2):c.449G>A (p.Arg150Lys)
|
rs755356370
|
0.00001
|
NM_006440.5(TXNRD2):c.450-1G>A
|
rs755703700
|
0.00001
|
NM_006440.5(TXNRD2):c.46C>T (p.Arg16Trp)
|
rs777650793
|
0.00001
|
NM_006440.5(TXNRD2):c.497C>T (p.Thr166Met)
|
rs553337931
|
0.00001
|
NM_006440.5(TXNRD2):c.508G>A (p.Val170Ile)
|
rs574389555
|
0.00001
|
NM_006440.5(TXNRD2):c.529A>G (p.Ile177Val)
|
rs373970291
|
0.00001
|
NM_006440.5(TXNRD2):c.532C>T (p.Leu178=)
|
rs1416081507
|
0.00001
|
NM_006440.5(TXNRD2):c.575C>T (p.Pro192Leu)
|
rs747572047
|
0.00001
|
NM_006440.5(TXNRD2):c.587C>T (p.Thr196Met)
|
rs531899091
|
0.00001
|
NM_006440.5(TXNRD2):c.588G>A (p.Thr196=)
|
rs377699868
|
0.00001
|
NM_006440.5(TXNRD2):c.589C>G (p.His197Asp)
|
rs762695606
|
0.00001
|
NM_006440.5(TXNRD2):c.591C>T (p.His197=)
|
rs543644944
|
0.00001
|
NM_006440.5(TXNRD2):c.662+1G>A
|
rs1317400468
|
0.00001
|
NM_006440.5(TXNRD2):c.672C>T (p.Val224=)
|
rs768078454
|
0.00001
|
NM_006440.5(TXNRD2):c.715G>A (p.Gly239Arg)
|
rs978493213
|
0.00001
|
NM_006440.5(TXNRD2):c.720T>G (p.Ile240Met)
|
rs1246351128
|
0.00001
|
NM_006440.5(TXNRD2):c.746G>A (p.Arg249His)
|
rs760799626
|
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.775C>A (p.Gln259Lys)
|
rs1939470316
|
0.00001
|
NM_006440.5(TXNRD2):c.845C>T (p.Ser282Leu)
|
rs368200536
|
0.00001
|
NM_006440.5(TXNRD2):c.849G>T (p.Arg283=)
|
rs559964753
|
0.00001
|
NM_006440.5(TXNRD2):c.860T>G (p.Leu287Arg)
|
rs989125451
|
0.00001
|
NM_006440.5(TXNRD2):c.861C>T (p.Leu287=)
|
rs746457439
|
0.00001
|
NM_006440.5(TXNRD2):c.88G>T (p.Ala30Ser)
|
rs1315091228
|
0.00001
|
NM_006440.5(TXNRD2):c.896G>A (p.Ser299Asn)
|
rs779054925
|
0.00001
|
NM_006440.5(TXNRD2):c.904G>A (p.Gly302Ser)
|
rs781228620
|
0.00001
|
NM_006440.5(TXNRD2):c.905G>A (p.Gly302Asp)
|
rs757519340
|
0.00001
|
NM_006440.5(TXNRD2):c.949+14G>A
|
rs373223971
|
0.00001
|
NM_006440.5(TXNRD2):c.949+3A>G
|
rs770435568
|
0.00001
|
NM_006440.5(TXNRD2):c.950-19C>T
|
rs541350051
|
0.00001
|
NM_006440.5(TXNRD2):c.965C>A (p.Thr322Asn)
|
rs752178604
|
0.00001
|
NM_006440.5(TXNRD2):c.993G>C (p.Gly331=)
|
rs774604998
|
0.00001
|
NM_006663.4(PPP1R13L):c.1219C>T (p.Gln407Ter)
|
rs1290915929
|
0.00001
|
NM_007078.3(LDB3):c.91C>T (p.Arg31Trp)
|
rs367792378
|
0.00001
|
NM_014000.3(VCL):c.1713del (p.Ala573fs)
|
rs779488376
|
0.00001
|
NM_014000.3(VCL):c.1961A>C (p.Asn654Thr)
|
rs1591709946
|
0.00001
|
NM_014000.3(VCL):c.562C>T (p.Arg188Ter)
|
rs397517244
|
0.00001
|
NM_014391.3(ANKRD1):c.3G>C (p.Met1Ile)
|
rs188706671
|
0.00001
|
NM_014391.3(ANKRD1):c.560C>T (p.Ser187Phe)
|
rs397517251
|
0.00001
|
NM_014391.3(ANKRD1):c.943C>T (p.Arg315Cys)
|
rs775584071
|
0.00001
|
NM_014476.6(PDLIM3):c.743G>A (p.Arg248His)
|
rs377158204
|
0.00001
|
NM_015141.4(GPD1L):c.692G>A (p.Arg231His)
|
rs869025436
|
0.00001
|
NM_020297.4(ABCC9):c.2950C>T (p.Arg984Cys)
|
rs78979794
|
0.00001
|
NM_020297.4(ABCC9):c.4352T>C (p.Val1451Ala)
|
rs397517190
|
0.00001
|
NM_020433.5(JPH2):c.278G>A (p.Arg93His)
|
rs1131692244
|
0.00001
|
NM_022114.4(PRDM16):c.2362A>T (p.Met788Leu)
|
rs768208960
|
0.00001
|
NM_024334.3(TMEM43):c.803G>T (p.Arg268Leu)
|
rs769969149
|
0.00001
|
NM_032578.4(MYPN):c.1876G>A (p.Asp626Asn)
|
rs754064567
|
0.00001
|
NM_032578.4(MYPN):c.308A>T (p.Asp103Val)
|
rs758026056
|
0.00001
|
NM_130797.4(DPP6):c.2077C>T (p.Arg693Trp)
|
rs869025385
|
0.00001
|
NM_133379.5(TTN):c.16529del (p.Val5510fs)
|
rs774991940
|
0.00001
|
NM_144573.4(NEXN):c.1619T>C (p.Met540Thr)
|
rs531641059
|
0.00001
|
NM_145046.5(CALR3):c.67T>A (p.Phe23Ile)
|
rs368506422
|
0.00001
|
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)
|
rs386134243
|
0.00001
|
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys)
|
rs397517889
|
0.00001
|
NM_170707.4(LMNA):c.1163G>A (p.Arg388His)
|
rs267607576
|
0.00001
|
NM_170707.4(LMNA):c.1195C>T (p.Arg399Cys)
|
rs58672172
|
0.00001
|
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys)
|
rs150840924
|
0.00001
|
NM_170707.4(LMNA):c.1412G>A (p.Arg471His)
|
rs267607578
|
0.00001
|
NM_170707.4(LMNA):c.356+1G>C
|
rs794728589
|
0.00001
|
NM_170707.4(LMNA):c.448A>G (p.Thr150Ala)
|
rs58917027
|
0.00001
|
NM_170707.4(LMNA):c.565C>T (p.Arg189Trp)
|
rs267607626
|
0.00001
|
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys)
|
rs794728591
|
0.00001
|
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter)
|
rs60682848
|
0.00001
|
NM_170707.4(LMNA):c.725C>T (p.Ala242Val)
|
rs397517906
|
0.00001
|
NM_170707.4(LMNA):c.749C>T (p.Ala250Val)
|
rs397517907
|
0.00001
|
NM_170707.4(LMNA):c.768G>A (p.Val256=)
|
rs794728593
|
0.00001
|
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys)
|
rs56816490
|
0.00001
|
NM_170707.4(LMNA):c.952G>A (p.Ala318Thr)
|
rs267607574
|
0.00001
|
NM_201596.3(CACNB2):c.1276G>A (p.Ala426Thr)
|
rs1336353571
|
0.00001
|
NC_000002.11:g.(?_105977730)_(106002983_?)dup
|
|
|
NC_000010.10:g.(?_21074676)_(21076257_?)dup
|
|
|
NC_000010.11:g.(?_20828510)_(20828654_?)del
|
|
|
NC_000010.11:g.(?_20828520)_(20828644_?)del
|
|
|
NC_000010.11:g.(?_20840719)_(20840869_?)del
|
|
|
NC_000010.11:g.(?_20840729)_(20840859_?)del
|
|
|
NC_000022.10:g.(?_19743473)_(19929346_?)dup
|
|
|
NC_000022.10:g.(?_19862041)_(19930515_?)dup
|
|
|
NC_000022.10:g.(?_19864618)_(19929336_?)dup
|
|
|
NC_000022.10:g.(?_19864628)_(19883124_?)del
|
|
|
NC_000022.10:g.(?_19918553)_(19969614_?)del
|
|
|
NC_000022.10:g.(?_19929214)_(19929336_?)dup
|
|
|
NC_000022.11:g.(?_19877095)_(19941813_?)del
|
|
|
NC_000022.11:g.(?_19911357)_(19911467_?)del
|
|
|
NC_000022.11:g.(?_19911367)_(19911457_?)del
|
|
|
NC_000022.11:g.(?_19931010)_(19941823_?)del
|
|
|
NM_000088.4(COL1A1):c.4339G>T (p.Val1447Phe)
|
|
|
NM_000116.5(TAFAZZIN):c.*165T>A
|
rs2068620449
|
|
NM_000116.5(TAFAZZIN):c.*387C>T
|
rs1057515819
|
|
NM_000116.5(TAFAZZIN):c.*470=
|
rs743547
|
|
NM_000116.5(TAFAZZIN):c.*648A>C
|
rs1413243483
|
|
NM_000116.5(TAFAZZIN):c.49T>C (p.Trp17Arg)
|
rs2068313278
|
|
NM_000116.5(TAFAZZIN):c.504G>A (p.Lys168=)
|
rs1057515818
|
|
NM_000116.5(TAFAZZIN):c.647-6C>T
|
rs901353067
|
|
NM_000116.5(TAFAZZIN):c.718G>C (p.Gly240Arg)
|
rs387907218
|
|
NM_000116.5(TAFAZZIN):c.823C>T (p.Gln275Ter)
|
rs397515750
|
|
NM_000117.3(EMD):c.23C>G (p.Ser8Trp)
|
rs869025400
|
|
NM_000138.5(FBN1):c.657C>G (p.His219Gln)
|
|
|
NM_000232.5(SGCB):c.12GGC[3] (p.Ala9del)
|
rs768838951
|
|
NM_000232.5(SGCB):c.368A>C (p.Tyr123Ser)
|
rs398123263
|
|
NM_000256.3(MYBPC3):c.1826C>T (p.Ala609Val)
|
rs730880553
|
|
NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn)
|
rs371564200
|
|
NM_000256.3(MYBPC3):c.1960C>G (p.Arg654Gly)
|
rs397515939
|
|
NM_000256.3(MYBPC3):c.2504del (p.Arg835fs)
|
rs876657704
|
|
NM_000256.3(MYBPC3):c.3599T>C (p.Leu1200Pro)
|
rs397516028
|
|
NM_000256.3(MYBPC3):c.742G>T (p.Asp248Tyr)
|
|
|
NM_000256.3(MYBPC3):c.93C>A (p.Ala31=)
|
|
|
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln)
|
rs397516089
|
|
NM_000257.4(MYH7):c.1128C>A (p.Asp376Glu)
|
rs2231126
|
|
NM_000257.4(MYH7):c.1477_1478del (p.Met493fs)
|
rs727504336
|
|
NM_000257.4(MYH7):c.1565A>T (p.Asp522Val)
|
rs1595086146
|
|
NM_000257.4(MYH7):c.1572C>G (p.Ile524Met)
|
rs769484001
|
|
NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys)
|
rs606231324
|
|
NM_000257.4(MYH7):c.1584G>A (p.Met528Ile)
|
rs727503265
|
|
NM_000257.4(MYH7):c.1594T>C (p.Ser532Pro)
|
rs121913642
|
|
NM_000257.4(MYH7):c.1791C>A (p.Asn597Lys)
|
rs397516122
|
|
NM_000257.4(MYH7):c.1798C>T (p.Pro600Ser)
|
rs397516123
|
|
NM_000257.4(MYH7):c.1888+1G>A
|
rs113186231
|
|
NM_000257.4(MYH7):c.1922G>C (p.Gly641Ala)
|
rs1555338080
|
|
NM_000257.4(MYH7):c.1997A>G (p.His666Arg)
|
rs769919688
|
|
NM_000257.4(MYH7):c.2242T>C (p.Ser748Pro)
|
rs876657879
|
|
NM_000257.4(MYH7):c.2347C>G (p.Arg783Gly)
|
rs727503258
|
|
NM_000257.4(MYH7):c.2348G>C (p.Arg783Pro)
|
rs397516142
|
|
NM_000257.4(MYH7):c.2678C>T (p.Ala893Val)
|
rs727503254
|
|
NM_000257.4(MYH7):c.2710C>T (p.Arg904Cys)
|
rs727503253
|
|
NM_000257.4(MYH7):c.2711G>A (p.Arg904His)
|
rs397516165
|
|
NM_000257.4(MYH7):c.3020T>C (p.Leu1007Pro)
|
rs730880763
|
|
NM_000257.4(MYH7):c.323G>A (p.Arg108His)
|
rs730880832
|
|
NM_000257.4(MYH7):c.3634C>T (p.Arg1212Trp)
|
rs1555337102
|
|
NM_000257.4(MYH7):c.3929A>C (p.Gln1310Pro)
|
rs869025481
|
|
NM_000257.4(MYH7):c.4276G>A (p.Glu1426Lys)
|
rs397516208
|
|
NM_000257.4(MYH7):c.4351A>G (p.Lys1451Glu)
|
|
|
NM_000257.4(MYH7):c.4498C>T (p.Arg1500Trp)
|
rs45544633
|
|
NM_000257.4(MYH7):c.4501G>T (p.Glu1501Ter)
|
rs1595074652
|
|
NM_000257.4(MYH7):c.4510A>T (p.Asn1504Tyr)
|
rs869025482
|
|
NM_000257.4(MYH7):c.457del (p.His153fs)
|
rs397516224
|
|
NM_000257.4(MYH7):c.475G>C (p.Asp159His)
|
rs730880155
|
|
NM_000257.4(MYH7):c.4808C>T (p.Ala1603Val)
|
rs1892198053
|
|
NM_000257.4(MYH7):c.4985G>A (p.Arg1662His)
|
rs370328209
|
|
NM_000257.4(MYH7):c.5395G>A (p.Glu1799Lys)
|
rs730880816
|
|
NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys)
|
rs397516248
|
|
NM_000257.4(MYH7):c.5413C>A (p.Leu1805Ile)
|
rs1892134324
|
|
NM_000257.4(MYH7):c.5494C>T (p.Arg1832Cys)
|
rs201865159
|
|
NM_000257.4(MYH7):c.5717C>G (p.Ala1906Gly)
|
rs397516252
|
|
NM_000257.4(MYH7):c.5726G>C (p.Arg1909Pro)
|
rs397516253
|
|
NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys)
|
rs397516254
|
|
NM_000257.4(MYH7):c.5741_5744delinsT (p.Glu1914_Ser1915delinsVal)
|
rs869025483
|
|
NM_000257.4(MYH7):c.5767A>G (p.Lys1923Glu)
|
rs1595070373
|
|
NM_000257.4(MYH7):c.5769del (p.Ser1924fs)
|
rs1892066954
|
|
NM_000257.4(MYH7):c.602T>C (p.Ile201Thr)
|
rs397516258
|
|
NM_000335.5(SCN5A):c.1300T>A (p.Phe434Ile)
|
|
|
NM_000335.5(SCN5A):c.1671C>G (p.His557Gln)
|
rs762858787
|
|
NM_000335.5(SCN5A):c.2440C>T (p.Arg814Trp)
|
rs199473161
|
|
NM_000335.5(SCN5A):c.413T>C (p.Met138Thr)
|
rs730880203
|
|
NM_000335.5(SCN5A):c.4264G>A (p.Asp1422Asn)
|
rs746291609
|
|
NM_000335.5(SCN5A):c.4557C>G (p.Phe1519Leu)
|
rs199473642
|
|
NM_000335.5(SCN5A):c.4775T>C (p.Ile1592Thr)
|
|
|
NM_000335.5(SCN5A):c.4780G>C (p.Asp1594His)
|
rs137854607
|
|
NM_000335.5(SCN5A):c.528dup (p.Leu177fs)
|
|
|
NM_000335.5(SCN5A):c.589G>T (p.Asp197Tyr)
|
rs1553605667
|
|
NM_000335.5(SCN5A):c.6010C>G (p.Pro2004Ala)
|
rs199473337
|
|
NM_000337.6(SGCD):c.538A>T (p.Thr180Ser)
|
rs1187720404
|
|
NM_000363.5(TNNI3):c.194C>T (p.Ala65Val)
|
rs1057518784
|
|
NM_000363.5(TNNI3):c.464T>C (p.Met155Thr)
|
rs397516352
|
|
NM_000363.5(TNNI3):c.496T>C (p.Ser166Pro)
|
rs1599909123
|
|
NM_000363.5(TNNI3):c.538G>A (p.Asp180Asn)
|
rs1060503103
|
|
NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys)
|
rs397516355
|
|
NM_000363.5(TNNI3):c.550G>A (p.Glu184Lys)
|
rs397516356
|
|
NM_000426.4(LAMA2):c.4607C>T (p.Pro1536Leu)
|
rs1776956586
|
|
NM_000426.4(LAMA2):c.7040G>T (p.Gly2347Val)
|
rs529981007
|
|
NM_000426.4(LAMA2):c.7525_7528dup (p.Ser2510fs)
|
rs2114834553
|
|
NM_000432.4(MYL2):c.262G>A (p.Glu88Lys)
|
rs869025484
|
|
NM_000432.4(MYL2):c.421G>A (p.Ala141Thr)
|
rs727504559
|
|
NM_001018005.2(TPM1):c.163G>A (p.Asp55Asn)
|
rs397516363
|
|
NM_001018005.2(TPM1):c.23T>G (p.Met8Arg)
|
rs397516364
|
|
NM_001018005.2(TPM1):c.275T>C (p.Ile92Thr)
|
rs199476310
|
|
NM_001018005.2(TPM1):c.337C>G (p.Leu113Val)
|
rs397516369
|
|
NM_001018005.2(TPM1):c.340G>C (p.Glu114Gln)
|
rs1596361271
|
|
NM_001018005.2(TPM1):c.341A>G (p.Glu114Gly)
|
rs397516370
|
|
NM_001018005.2(TPM1):c.416A>T (p.Glu139Val)
|
rs727504389
|
|
NM_001018005.2(TPM1):c.423G>C (p.Met141Ile)
|
rs397516371
|
|
NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn)
|
rs397516373
|
|
NM_001018005.2(TPM1):c.479G>A (p.Arg160His)
|
rs199476311
|
|
NM_001018005.2(TPM1):c.496G>A (p.Ala166Thr)
|
rs876657662
|
|
NM_001018005.2(TPM1):c.533G>A (p.Arg178His)
|
rs397516375
|
|
NM_001018005.2(TPM1):c.688G>A (p.Asp230Asn)
|
rs199476317
|
|
NM_001018005.2(TPM1):c.725C>T (p.Ala242Val)
|
rs397516387
|
|
NM_001018100.5(MYZAP):c.236C>A (p.Ser79Ter)
|
rs992189342
|
|
NM_001018116.2(CAVIN4):c.721CTGAGACAGTCAGGGGAGAGG[1] (p.234LRQSGER[2])
|
rs746462546
|
|
NM_001035.3(RYR2):c.10471C>G (p.Leu3491Val)
|
rs747700917
|
|
NM_001035.3(RYR2):c.2026G>A (p.Glu676Lys)
|
rs1572596015
|
|
NM_001035.3(RYR2):c.3839C>G (p.Ser1280Cys)
|
rs759424061
|
|
NM_001035.3(RYR2):c.6517G>A (p.Glu2173Lys)
|
|
|
NM_001077653.2(TBX20):c.208G>A (p.Gly70Ser)
|
rs1584359977
|
|
NM_001079802.2(FKTN):c.1371_1381dup (p.Tyr461fs)
|
rs727502847
|
|
NM_001079843.3(CASZ1):c.2443_2459del (p.Val815fs)
|
rs2100221588
|
|
NM_001079843.3(CASZ1):c.559G>A (p.Gly187Ser)
|
|
|
NM_001100.4(ACTA1):c.766C>G (p.Arg256Gly)
|
|
|
NM_001100.4(ACTA1):c.880G>T (p.Asp294Tyr)
|
|
|
NM_001103.4(ACTN2):c.2423C>T (p.Thr808Ile)
|
rs148833906
|
|
NM_001105206.3(LAMA4):c.2493G>A (p.Lys831=)
|
rs869025450
|
|
NM_001105206.3(LAMA4):c.3742A>G (p.Ile1248Val)
|
rs547323858
|
|
NM_001134363.3(RBM20):c.150_153del (p.Pro52fs)
|
rs1861841498
|
|
NM_001134363.3(RBM20):c.154C>A (p.Pro52Thr)
|
rs2134793204
|
|
NM_001134363.3(RBM20):c.1793A>C (p.Gln598Pro)
|
rs2135078982
|
|
NM_001134363.3(RBM20):c.1901G>T (p.Arg634Leu)
|
rs267607001
|
|
NM_001134363.3(RBM20):c.1904C>A (p.Ser635Tyr)
|
rs1114167331
|
|
NM_001134363.3(RBM20):c.1906C>A (p.Arg636Ser)
|
rs267607002
|
|
NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu)
|
rs267607003
|
|
NM_001134363.3(RBM20):c.2004C>A (p.Asp668Glu)
|
rs749563704
|
|
NM_001134363.3(RBM20):c.2205G>A (p.Glu735=)
|
rs1844785808
|
|
NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys)
|
rs397516607
|
|
NM_001134363.3(RBM20):c.2746G>A (p.Glu916Lys)
|
rs727504859
|
|
NM_001134363.3(RBM20):c.2893G>A (p.Gly965Arg)
|
rs2135121307
|
|
NM_001134363.3(RBM20):c.298C>T (p.Leu100Phe)
|
rs1590673852
|
|
NM_001134363.3(RBM20):c.3047G>C (p.Gly1016Ala)
|
rs540014314
|
|
NM_001134363.3(RBM20):c.3261_3262delinsG (p.Ser1087fs)
|
rs727504763
|
|
NM_001134363.3(RBM20):c.3496T>C (p.Cys1166Arg)
|
rs869025506
|
|
NM_001134363.3(RBM20):c.3517G>A (p.Glu1173Lys)
|
rs542297252
|
|
NM_001134363.3(RBM20):c.580A>G (p.Met194Val)
|
rs2135042187
|
|
NM_001134363.3(RBM20):c.611C>T (p.Pro204Leu)
|
rs869025503
|
|
NM_001144967.3(NEDD4L):c.1333C>T (p.Arg445Cys)
|
rs1131690797
|
|
NM_001145809.2(MYH14):c.988_989delinsCT (p.Glu330Leu)
|
|
|
NM_001146156.2(GSK3B):c.910-2987C>T
|
|
|
NM_001148.6(ANK2):c.9871C>T (p.Pro3291Ser)
|
rs869025361
|
|
NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del)
|
rs397516641
|
|
NM_001256850.1(TTN):c.86916dup (p.Val28973fs)
|
rs730880365
|
|
NM_001267550.2(TTN):c.100026_100030del (p.Ser33344fs)
|
rs727503537
|
|
NM_001267550.2(TTN):c.100445C>A (p.Ser33482Ter)
|
rs869312086
|
|
NM_001267550.2(TTN):c.100555_100571del (p.Val33519fs)
|
|
|
NM_001267550.2(TTN):c.100603G>A (p.Glu33535Lys)
|
rs1691401261
|
|
NM_001267550.2(TTN):c.101021_101022del (p.Arg33674fs)
|
rs869312087
|
|
NM_001267550.2(TTN):c.101098_101099insT (p.Asp33700fs)
|
rs869312122
|
|
NM_001267550.2(TTN):c.101208G>A (p.Trp33736Ter)
|
rs1559047711
|
|
NM_001267550.2(TTN):c.10120A>T (p.Lys3374Ter)
|
rs770029258
|
|
NM_001267550.2(TTN):c.1013G>A (p.Gly338Asp)
|
rs2093698726
|
|
NM_001267550.2(TTN):c.101789del (p.Leu33930fs)
|
rs1575285509
|
|
NM_001267550.2(TTN):c.101996G>A (p.Trp33999Ter)
|
rs869312068
|
|
NM_001267550.2(TTN):c.10241_10247del (p.Tyr3414fs)
|
rs876657663
|
|
NM_001267550.2(TTN):c.102630del (p.Lys34210_Val34211insTer)
|
rs869312101
|
|
NM_001267550.2(TTN):c.102946del (p.Tyr34316fs)
|
|
|
NM_001267550.2(TTN):c.102949C>T (p.Gln34317Ter)
|
rs397517787
|
|
NM_001267550.2(TTN):c.103360del (p.Glu34454fs)
|
rs760768093
|
|
NM_001267550.2(TTN):c.103374C>G (p.Tyr34458Ter)
|
rs1060500505
|
|
NM_001267550.2(TTN):c.103599_103602del (p.Arg34534fs)
|
rs730880246
|
|
NM_001267550.2(TTN):c.104010C>A (p.Tyr34670Ter)
|
rs751039219
|
|
NM_001267550.2(TTN):c.104457C>A (p.Tyr34819Ter)
|
|
|
NM_001267550.2(TTN):c.106374+1del
|
rs763404256
|
|
NM_001267550.2(TTN):c.106629del (p.Ala35544fs)
|
rs869312069
|
|
NM_001267550.2(TTN):c.10799C>A (p.Ser3600Ter)
|
rs374300381
|
|
NM_001267550.2(TTN):c.11183dup (p.Leu3729fs)
|
rs778172350
|
|
NM_001267550.2(TTN):c.11444del (p.Lys3815fs)
|
rs1574099951
|
|
NM_001267550.2(TTN):c.11912G>A (p.Trp3971Ter)
|
rs869312102
|
|
NM_001267550.2(TTN):c.12057dup (p.Ser4020fs)
|
|
|
NM_001267550.2(TTN):c.12208G>T (p.Glu4070Ter)
|
rs397517830
|
|
NM_001267550.2(TTN):c.12405del (p.Asn4135fs)
|
rs727503658
|
|
NM_001267550.2(TTN):c.12643_12644del (p.Gln4215fs)
|
rs869312038
|
|
NM_001267550.2(TTN):c.12645del (p.Gln4215fs)
|
|
|
NM_001267550.2(TTN):c.12757C>T (p.Gln4253Ter)
|
rs869312039
|
|
NM_001267550.2(TTN):c.12870dup (p.Val4291fs)
|
rs869025556
|
|
NM_001267550.2(TTN):c.13058del (p.Pro4353fs)
|
rs1408345511
|
|
NM_001267550.2(TTN):c.13115del (p.Val4372fs)
|
rs2154317965
|
|
NM_001267550.2(TTN):c.13592C>G (p.Ser4531Ter)
|
rs2154317682
|
|
NM_001267550.2(TTN):c.13732G>T (p.Glu4578Ter)
|
|
|
NM_001267550.2(TTN):c.13760del (p.Glu4587fs)
|
rs1266489077
|
|
NM_001267550.2(TTN):c.13900G>T (p.Glu4634Ter)
|
rs869312103
|
|
NM_001267550.2(TTN):c.14056del (p.Thr4686fs)
|
rs869312104
|
|
NM_001267550.2(TTN):c.14334T>G (p.Tyr4778Ter)
|
|
|
NM_001267550.2(TTN):c.15776-1G>T
|
rs869312094
|
|
NM_001267550.2(TTN):c.18265G>A (p.Asp6089Asn)
|
rs560203827
|
|
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu)
|
rs149523263
|
|
NM_001267550.2(TTN):c.2396C>T (p.Thr799Met)
|
rs149061352
|
|
NM_001267550.2(TTN):c.24385G>T (p.Glu8129Ter)
|
rs727504843
|
|
NM_001267550.2(TTN):c.26161G>A (p.Val8721Met)
|
rs777730788
|
|
NM_001267550.2(TTN):c.2841G>T (p.Ser947=)
|
rs774074192
|
|
NM_001267550.2(TTN):c.29062del (p.Ala9688fs)
|
rs869312040
|
|
NM_001267550.2(TTN):c.2926T>C (p.Trp976Arg)
|
rs267607155
|
|
NM_001267550.2(TTN):c.3034C>T (p.Arg1012Ter)
|
rs397517547
|
|
NM_001267550.2(TTN):c.30484_30493del (p.Thr10162fs)
|
rs727504452
|
|
NM_001267550.2(TTN):c.30803-2A>G
|
rs869312089
|
|
NM_001267550.2(TTN):c.30994C>G (p.Pro10332Ala)
|
rs757869762
|
|
NM_001267550.2(TTN):c.31594G>T (p.Val10532Phe)
|
rs763955552
|
|
NM_001267550.2(TTN):c.32095+5G>A
|
rs869312090
|
|
NM_001267550.2(TTN):c.32554+1G>C
|
rs376018437
|
|
NM_001267550.2(TTN):c.32888-1del
|
rs869312041
|
|
NM_001267550.2(TTN):c.33094+1G>A
|
rs786205398
|
|
NM_001267550.2(TTN):c.34132del (p.Leu11378fs)
|
rs869025551
|
|
NM_001267550.2(TTN):c.35225A>T (p.Lys11742Ile)
|
rs2067070782
|
|
NM_001267550.2(TTN):c.37502C>T (p.Pro12501Leu)
|
rs1236045684
|
|
NM_001267550.2(TTN):c.3780T>G (p.Tyr1260Ter)
|
|
|
NM_001267550.2(TTN):c.39833AGA[1] (p.Lys13279del)
|
rs765355244
|
|
NM_001267550.2(TTN):c.4027C>T (p.Gln1343Ter)
|
rs727503697
|
|
NM_001267550.2(TTN):c.40520G>A (p.Arg13507His)
|
rs771858747
|
|
NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu)
|
rs587780488
|
|
NM_001267550.2(TTN):c.40608del (p.Lys13536fs)
|
rs1284446305
|
|
NM_001267550.2(TTN):c.4136T>C (p.Leu1379Ser)
|
|
|
NM_001267550.2(TTN):c.41447del (p.Gly13816fs)
|
rs869312042
|
|
NM_001267550.2(TTN):c.41473C>T (p.Arg13825Ter)
|
rs869312043
|
|
NM_001267550.2(TTN):c.41483del (p.Pro13828fs)
|
rs876657664
|
|
NM_001267550.2(TTN):c.41609-2A>C
|
rs730880244
|
|
NM_001267550.2(TTN):c.41610del (p.Val13871fs)
|
rs397517565
|
|
NM_001267550.2(TTN):c.41835T>G (p.Tyr13945Ter)
|
rs869312105
|
|
NM_001267550.2(TTN):c.42598_42599insG (p.Met14200fs)
|
rs1553742630
|
|
NM_001267550.2(TTN):c.42636del (p.Ala14213fs)
|
rs869312106
|
|
NM_001267550.2(TTN):c.42968dup (p.Pro14324fs)
|
rs1553741321
|
|
NM_001267550.2(TTN):c.43604_43607dup (p.His14537fs)
|
rs1576685753
|
|
NM_001267550.2(TTN):c.43631T>C (p.Met14544Thr)
|
rs1576685386
|
|
NM_001267550.2(TTN):c.43792del (p.Gly14597_Val14598insTer)
|
rs869312044
|
|
NM_001267550.2(TTN):c.43943T>A (p.Leu14648Ter)
|
|
|
NM_001267550.2(TTN):c.44191C>T (p.Leu14731Phe)
|
rs771361227
|
|
NM_001267550.2(TTN):c.44281+1G>A
|
rs771562210
|
|
NM_001267550.2(TTN):c.44284C>T (p.Arg14762Ter)
|
rs770767998
|
|
NM_001267550.2(TTN):c.44364del (p.Tyr14789fs)
|
rs397517576
|
|
NM_001267550.2(TTN):c.45391del (p.Ile15131fs)
|
rs869312091
|
|
NM_001267550.2(TTN):c.45535A>T (p.Lys15179Ter)
|
rs1559877046
|
|
NM_001267550.2(TTN):c.45756dup (p.Tyr15253fs)
|
rs869312045
|
|
NM_001267550.2(TTN):c.45812T>G (p.Leu15271Ter)
|
rs869312046
|
|
NM_001267550.2(TTN):c.45895+1G>A
|
rs727504589
|
|
NM_001267550.2(TTN):c.45896-2A>G
|
rs869025548
|
|
NM_001267550.2(TTN):c.46069_46070del (p.Met15357fs)
|
rs397517584
|
|
NM_001267550.2(TTN):c.46216G>A (p.Asp15406Asn)
|
|
|
NM_001267550.2(TTN):c.46236C>A (p.Cys15412Ter)
|
rs368200299
|
|
NM_001267550.2(TTN):c.46603C>T (p.Arg15535Ter)
|
rs764654357
|
|
NM_001267550.2(TTN):c.46630del (p.Arg15544fs)
|
|
|
NM_001267550.2(TTN):c.46759del (p.Met15587fs)
|
|
|
NM_001267550.2(TTN):c.46773T>A (p.Tyr15591Ter)
|
rs397517586
|
|
NM_001267550.2(TTN):c.46782C>A (p.Tyr15594Ter)
|
rs397517587
|
|
NM_001267550.2(TTN):c.47142_47143dup (p.Glu15715fs)
|
rs869312107
|
|
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs)
|
rs756433029
|
|
NM_001267550.2(TTN):c.47506C>T (p.Gln15836Ter)
|
rs397517589
|
|
NM_001267550.2(TTN):c.47692C>T (p.Arg15898Ter)
|
rs775186117
|
|
NM_001267550.2(TTN):c.47697C>A (p.Cys15899Ter)
|
rs373040154
|
|
NM_001267550.2(TTN):c.47784del (p.Asn15928fs)
|
|
|
NM_001267550.2(TTN):c.47875+1G>A
|
rs869312047
|
|
NM_001267550.2(TTN):c.48761-1G>C
|
rs876657665
|
|
NM_001267550.2(TTN):c.48863del (p.Pro16288fs)
|
rs794729320
|
|
NM_001267550.2(TTN):c.49346-1G>A
|
rs869312070
|
|
NM_001267550.2(TTN):c.49458G>A (p.Trp16486Ter)
|
rs869312108
|
|
NM_001267550.2(TTN):c.49813del (p.Val16605fs)
|
rs730880245
|
|
NM_001267550.2(TTN):c.50247del (p.Phe16749fs)
|
rs869312071
|
|
NM_001267550.2(TTN):c.50467_50468del (p.Gln16823fs)
|
|
|
NM_001267550.2(TTN):c.50533del (p.Ser16845fs)
|
|
|
NM_001267550.2(TTN):c.50618G>A (p.Trp16873Ter)
|
rs397517601
|
|
NM_001267550.2(TTN):c.51129dup (p.Val17044fs)
|
|
|
NM_001267550.2(TTN):c.51302del (p.Glu17101fs)
|
|
|
NM_001267550.2(TTN):c.51436C>T (p.Gln17146Ter)
|
rs906494713
|
|
NM_001267550.2(TTN):c.51739+1G>C
|
rs727504799
|
|
NM_001267550.2(TTN):c.51870del (p.Glu17291fs)
|
rs1553691320
|
|
NM_001267550.2(TTN):c.52035_52036insTT (p.Leu17346fs)
|
rs869312049
|
|
NM_001267550.2(TTN):c.52128del (p.Phe17376fs)
|
rs869312095
|
|
NM_001267550.2(TTN):c.52223_52227dup (p.Asp17410fs)
|
rs869312050
|
|
NM_001267550.2(TTN):c.52226_52229del (p.Lys17409fs)
|
rs727503615
|
|
NM_001267550.2(TTN):c.52334_52335del (p.Val17445fs)
|
rs2055522786
|
|
NM_001267550.2(TTN):c.52769G>A (p.Trp17590Ter)
|
|
|
NM_001267550.2(TTN):c.53156T>C (p.Val17719Ala)
|
rs564121832
|
|
NM_001267550.2(TTN):c.5327C>A (p.Thr1776Asn)
|
|
|
NM_001267550.2(TTN):c.53393del (p.Gly17798fs)
|
rs794729324
|
|
NM_001267550.2(TTN):c.53488G>T (p.Gly17830Ter)
|
rs759231562
|
|
NM_001267550.2(TTN):c.53606del (p.Leu17869fs)
|
|
|
NM_001267550.2(TTN):c.53653G>T (p.Glu17885Ter)
|
rs727503607
|
|
NM_001267550.2(TTN):c.5383A>T (p.Lys1795Ter)
|
rs1574659116
|
|
NM_001267550.2(TTN):c.53881+1G>T
|
rs869312051
|
|
NM_001267550.2(TTN):c.53918del (p.Gly17973fs)
|
rs1486129583
|
|
NM_001267550.2(TTN):c.54316G>A (p.Asp18106Asn)
|
rs2054384818
|
|
NM_001267550.2(TTN):c.54327del (p.Lys18110fs)
|
rs2054381012
|
|
NM_001267550.2(TTN):c.54636T>G (p.Tyr18212Ter)
|
rs397517620
|
|
NM_001267550.2(TTN):c.54638G>A (p.Trp18213Ter)
|
rs727503602
|
|
NM_001267550.2(TTN):c.54990dup (p.Thr18331fs)
|
rs869025552
|
|
NM_001267550.2(TTN):c.55303-1G>A
|
rs748369265
|
|
NM_001267550.2(TTN):c.55525_55531del (p.Asp18509fs)
|
rs869312052
|
|
NM_001267550.2(TTN):c.55679G>A (p.Gly18560Asp)
|
rs1334608070
|
|
NM_001267550.2(TTN):c.55800G>A (p.Trp18600Ter)
|
rs727503598
|
|
NM_001267550.2(TTN):c.56145dup (p.Leu18716fs)
|
|
|
NM_001267550.2(TTN):c.56206del (p.Thr18736fs)
|
rs869312109
|
|
NM_001267550.2(TTN):c.56647+1G>A
|
rs397517624
|
|
NM_001267550.2(TTN):c.56834del (p.Gly18945fs)
|
rs869312110
|
|
NM_001267550.2(TTN):c.56892dup (p.Ala18965fs)
|
|
|
NM_001267550.2(TTN):c.57215del (p.Gly19072fs)
|
rs397517628
|
|
NM_001267550.2(TTN):c.57297del (p.Asp19100fs)
|
|
|
NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter)
|
rs72646831
|
|
NM_001267550.2(TTN):c.57847+5_57847+8del
|
rs587782988
|
|
NM_001267550.2(TTN):c.58172del (p.Asp19391fs)
|
rs869312072
|
|
NM_001267550.2(TTN):c.58838del (p.Tyr19613fs)
|
rs1576141328
|
|
NM_001267550.2(TTN):c.59186_59188delinsCTTCT (p.Arg19729fs)
|
|
|
NM_001267550.2(TTN):c.59205del (p.Glu19735fs)
|
rs397517643
|
|
NM_001267550.2(TTN):c.59352del (p.Glu19785fs)
|
rs869312111
|
|
NM_001267550.2(TTN):c.59411dup (p.Arg19805fs)
|
rs755261062
|
|
NM_001267550.2(TTN):c.59627-1G>A
|
rs869312073
|
|
NM_001267550.2(TTN):c.60367G>A (p.Glu20123Lys)
|
rs1407608886
|
|
NM_001267550.2(TTN):c.60399del (p.Ser20134fs)
|
rs727504466
|
|
NM_001267550.2(TTN):c.60490G>C (p.Val20164Leu)
|
rs72646843
|
|
NM_001267550.2(TTN):c.60931C>T (p.Arg20311Ter)
|
rs869312055
|
|
NM_001267550.2(TTN):c.61495C>T (p.Arg20499Ter)
|
rs869312112
|
|
NM_001267550.2(TTN):c.62217T>A (p.Tyr20739Ter)
|
rs727503586
|
|
NM_001267550.2(TTN):c.62506C>T (p.Arg20836Ter)
|
rs757231565
|
|
NM_001267550.2(TTN):c.62581_62584dup (p.Leu20862fs)
|
|
|
NM_001267550.2(TTN):c.62909dup (p.Glu20971fs)
|
rs876657666
|
|
NM_001267550.2(TTN):c.63025C>T (p.Arg21009Ter)
|
rs368452607
|
|
NM_001267550.2(TTN):c.63571C>A (p.Pro21191Thr)
|
rs2049345864
|
|
NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter)
|
rs764243269
|
|
NM_001267550.2(TTN):c.64038T>G (p.Tyr21346Ter)
|
rs1161735211
|
|
NM_001267550.2(TTN):c.64094-2A>G
|
rs876657667
|
|
NM_001267550.2(TTN):c.64259dup (p.Val21421fs)
|
|
|
NM_001267550.2(TTN):c.64318A>T (p.Arg21440Ter)
|
rs1576014673
|
|
NM_001267550.2(TTN):c.64397-1G>C
|
rs876657668
|
|
NM_001267550.2(TTN):c.64453C>T (p.Arg21485Ter)
|
rs768345594
|
|
NM_001267550.2(TTN):c.65476G>T (p.Glu21826Ter)
|
rs763824247
|
|
NM_001267550.2(TTN):c.65576-2A>G
|
rs869025549
|
|
NM_001267550.2(TTN):c.65819dup (p.Asn21940fs)
|
|
|
NM_001267550.2(TTN):c.66618C>A (p.Cys22206Ter)
|
rs397517664
|
|
NM_001267550.2(TTN):c.66753T>G (p.Tyr22251Ter)
|
rs2047743679
|
|
NM_001267550.2(TTN):c.6678_6681del (p.Lys2227fs)
|
rs397517698
|
|
NM_001267550.2(TTN):c.67157_67161dup (p.Asn22388delinsSerTer)
|
|
|
NM_001267550.2(TTN):c.67159del (p.Ile22386_Ile22387insTer)
|
rs869312092
|
|
NM_001267550.2(TTN):c.67302T>G (p.Tyr22434Ter)
|
|
|
NM_001267550.2(TTN):c.67571G>A (p.Ser22524Asn)
|
rs397517670
|
|
NM_001267550.2(TTN):c.67637-2A>G
|
rs869025550
|
|
NM_001267550.2(TTN):c.67875_67876dup (p.Lys22626fs)
|
|
|
NM_001267550.2(TTN):c.67900G>T (p.Gly22634Ter)
|
|
|
NM_001267550.2(TTN):c.68022del (p.Glu22675fs)
|
rs2047085522
|
|
NM_001267550.2(TTN):c.68195C>A (p.Ser22732Ter)
|
rs727505352
|
|
NM_001267550.2(TTN):c.68225-1G>C
|
rs1575854773
|
|
NM_001267550.2(TTN):c.68437G>T (p.Glu22813Ter)
|
rs200797552
|
|
NM_001267550.2(TTN):c.68449C>T (p.Arg22817Ter)
|
rs371678190
|
|
NM_001267550.2(TTN):c.68737G>T (p.Glu22913Ter)
|
|
|
NM_001267550.2(TTN):c.69412+1G>A
|
rs869312074
|
|
NM_001267550.2(TTN):c.69458_69461dup (p.Asn23154fs)
|
rs397517679
|
|
NM_001267550.2(TTN):c.69491_69492del (p.Val23164fs)
|
rs869312113
|
|
NM_001267550.2(TTN):c.69522T>G (p.Tyr23174Ter)
|
rs2154173235
|
|
NM_001267550.2(TTN):c.69630C>A (p.Tyr23210Ter)
|
rs777602537
|
|
NM_001267550.2(TTN):c.69639dup (p.Val23214fs)
|
rs869025557
|
|
NM_001267550.2(TTN):c.69783G>A (p.Trp23261Ter)
|
rs730880241
|
|
NM_001267550.2(TTN):c.69843del (p.Lys23281_Val23282insTer)
|
rs869312075
|
|
NM_001267550.2(TTN):c.69877G>T (p.Gly23293Ter)
|
rs869312114
|
|
NM_001267550.2(TTN):c.70045G>T (p.Glu23349Ter)
|
|
|
NM_001267550.2(TTN):c.70051C>T (p.Arg23351Ter)
|
rs1060500575
|
|
NM_001267550.2(TTN):c.70274G>C (p.Ser23425Thr)
|
rs980974415
|
|
NM_001267550.2(TTN):c.70275del (p.Ser23425fs)
|
rs727504655
|
|
NM_001267550.2(TTN):c.70791del (p.Gly23598fs)
|
rs869312076
|
|
NM_001267550.2(TTN):c.71083G>T (p.Glu23695Ter)
|
rs1575796530
|
|
NM_001267550.2(TTN):c.71321G>A (p.Trp23774Ter)
|
rs727503567
|
|
NM_001267550.2(TTN):c.71500C>T (p.Gln23834Ter)
|
rs730880242
|
|
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter)
|
rs397517689
|
|
NM_001267550.2(TTN):c.71634del (p.Ala23879fs)
|
rs727503565
|
|
NM_001267550.2(TTN):c.71980_71986delinsTA (p.Ala23994_Glu23996delinsTer)
|
rs794729338
|
|
NM_001267550.2(TTN):c.72431G>A (p.Trp24144Ter)
|
|
|
NM_001267550.2(TTN):c.73109G>A (p.Trp24370Ter)
|
rs869312115
|
|
NM_001267550.2(TTN):c.7330+5G>C
|
rs869025547
|
|
NM_001267550.2(TTN):c.73387del (p.Ala24463fs)
|
rs1553607425
|
|
NM_001267550.2(TTN):c.73568del (p.Pro24523fs)
|
rs1559415567
|
|
NM_001267550.2(TTN):c.73827del (p.Glu24609fs)
|
rs397517695
|
|
NM_001267550.2(TTN):c.73828_73835del (p.Val24611fs)
|
rs1708504899
|
|
NM_001267550.2(TTN):c.73845del (p.Glu24615fs)
|
rs397517696
|
|
NM_001267550.2(TTN):c.74242del (p.Thr24748fs)
|
|
|
NM_001267550.2(TTN):c.74306dup (p.Asn24769fs)
|
rs869312056
|
|
NM_001267550.2(TTN):c.74338C>T (p.Arg24780Ter)
|
rs794729285
|
|
NM_001267550.2(TTN):c.74370_74373dup (p.Asn24792delinsAspTer)
|
|
|
NM_001267550.2(TTN):c.74468C>G (p.Ala24823Gly)
|
rs368071644
|
|
NM_001267550.2(TTN):c.74560del (p.Thr24854fs)
|
|
|
NM_001267550.2(TTN):c.74880_74883dup (p.Pro24962fs)
|
rs869312116
|
|
NM_001267550.2(TTN):c.75314dup (p.Val25106fs)
|
rs869025558
|
|
NM_001267550.2(TTN):c.75443del (p.Gly25148fs)
|
rs1553603456
|
|
NM_001267550.2(TTN):c.75546C>A (p.Tyr25182Ter)
|
rs1553603152
|
|
NM_001267550.2(TTN):c.76115dup (p.Asn25372fs)
|
rs774604740
|
|
NM_001267550.2(TTN):c.76116_76117insA (p.His25373fs)
|
rs869312077
|
|
NM_001267550.2(TTN):c.76383_76386del (p.Asn25462fs)
|
rs869312078
|
|
NM_001267550.2(TTN):c.78095_78098del (p.Arg26032fs)
|
rs869312117
|
|
NM_001267550.2(TTN):c.78184G>T (p.Glu26062Ter)
|
rs869312057
|
|
NM_001267550.2(TTN):c.78507del (p.Gly26170fs)
|
rs869312058
|
|
NM_001267550.2(TTN):c.78991C>T (p.Arg26331Ter)
|
rs779996703
|
|
NM_001267550.2(TTN):c.79070_79071del (p.Tyr26357fs)
|
|
|
NM_001267550.2(TTN):c.79684C>T (p.Arg26562Ter)
|
rs869025545
|
|
NM_001267550.2(TTN):c.8023A>T (p.Arg2675Ter)
|
|
|
NM_001267550.2(TTN):c.80398dup (p.Met26800fs)
|
|
|
NM_001267550.2(TTN):c.80413del (p.Glu26805fs)
|
|
|
NM_001267550.2(TTN):c.80494G>T (p.Glu26832Ter)
|
rs780512337
|
|
NM_001267550.2(TTN):c.80514del (p.Val26839fs)
|
rs2154164951
|
|
NM_001267550.2(TTN):c.80635C>T (p.Gln26879Ter)
|
rs79926414
|
|
NM_001267550.2(TTN):c.80950G>T (p.Glu26984Ter)
|
rs1060500562
|
|
NM_001267550.2(TTN):c.81262_81269del (p.Gln27088fs)
|
rs869312059
|
|
NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter)
|
rs557312035
|
|
NM_001267550.2(TTN):c.81341dup (p.Asn27115fs)
|
rs1575663327
|
|
NM_001267550.2(TTN):c.81518del (p.Pro27173fs)
|
rs869312079
|
|
NM_001267550.2(TTN):c.81521del (p.Pro27174fs)
|
rs1553577362
|
|
NM_001267550.2(TTN):c.81532G>T (p.Glu27178Ter)
|
rs397517721
|
|
NM_001267550.2(TTN):c.81878_81879del (p.Phe27293fs)
|
rs727504660
|
|
NM_001267550.2(TTN):c.81886del (p.Glu27296fs)
|
rs727503557
|
|
NM_001267550.2(TTN):c.81936_81937delinsAT (p.Asp27312_Gly27313delinsGluTer)
|
|
|
NM_001267550.2(TTN):c.82513del (p.Ile27505fs)
|
rs869312060
|
|
NM_001267550.2(TTN):c.82773G>A (p.Trp27591Ter)
|
rs727505288
|
|
NM_001267550.2(TTN):c.8307_8308del (p.Ala2770fs)
|
rs869312037
|
|
NM_001267550.2(TTN):c.83340_83341delinsTTT (p.Lys27780fs)
|
|
|
NM_001267550.2(TTN):c.83407del (p.Val27803fs)
|
rs727504782
|
|
NM_001267550.2(TTN):c.83497G>T (p.Gly27833Ter)
|
rs2154160857
|
|
NM_001267550.2(TTN):c.83515C>T (p.Arg27839Ter)
|
rs869312118
|
|
NM_001267550.2(TTN):c.83575_83579del (p.Lys27859fs)
|
|
|
NM_001267550.2(TTN):c.83603del (p.Gly27868fs)
|
rs727505014
|
|
NM_001267550.2(TTN):c.83789_83790del (p.Glu27930fs)
|
rs869025559
|
|
NM_001267550.2(TTN):c.83843del (p.Arg27948fs)
|
rs1703956616
|
|
NM_001267550.2(TTN):c.84376C>T (p.Gln28126Ter)
|
rs869312119
|
|
NM_001267550.2(TTN):c.84757del (p.Cys28253fs)
|
|
|
NM_001267550.2(TTN):c.85008_85011del (p.Glu28338fs)
|
rs869312100
|
|
NM_001267550.2(TTN):c.85200_85203del (p.Arg28401fs)
|
rs1703415128
|
|
NM_001267550.2(TTN):c.85510G>T (p.Glu28504Ter)
|
rs876657670
|
|
NM_001267550.2(TTN):c.85891del (p.Ala28631fs)
|
rs1575610911
|
|
NM_001267550.2(TTN):c.86168del (p.Phe28723fs)
|
|
|
NM_001267550.2(TTN):c.86363G>A (p.Trp28788Ter)
|
rs1064793814
|
|
NM_001267550.2(TTN):c.86437G>T (p.Glu28813Ter)
|
rs868494032
|
|
NM_001267550.2(TTN):c.86459_86460del (p.Ser28820fs)
|
rs869312080
|
|
NM_001267550.2(TTN):c.86641del (p.His28881fs)
|
rs869312061
|
|
NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer)
|
rs727504856
|
|
NM_001267550.2(TTN):c.86821+1G>C
|
|
|
NM_001267550.2(TTN):c.86967G>A (p.Trp28989Ter)
|
rs869312062
|
|
NM_001267550.2(TTN):c.87157A>G (p.Thr29053Ala)
|
rs1702238937
|
|
NM_001267550.2(TTN):c.87316G>T (p.Glu29106Ter)
|
rs730880243
|
|
NM_001267550.2(TTN):c.87516del (p.Tyr29173fs)
|
rs727503552
|
|
NM_001267550.2(TTN):c.87624C>A (p.Tyr29208Ter)
|
rs772121356
|
|
NM_001267550.2(TTN):c.87705C>G (p.Tyr29235Ter)
|
rs1575584918
|
|
NM_001267550.2(TTN):c.87706+1G>C
|
|
|
NM_001267550.2(TTN):c.87716del (p.Gly29239fs)
|
rs869312028
|
|
NM_001267550.2(TTN):c.8780_8781insAT (p.Phe2927fs)
|
rs2091199299
|
|
NM_001267550.2(TTN):c.87849del (p.Leu29283fs)
|
rs869025554
|
|
NM_001267550.2(TTN):c.87887_87890del (p.His29296fs)
|
rs869312120
|
|
NM_001267550.2(TTN):c.89197_89197+2del
|
rs397517741
|
|
NM_001267550.2(TTN):c.89750dup (p.Val29918fs)
|
rs869312063
|
|
NM_001267550.2(TTN):c.89839C>T (p.Arg29947Ter)
|
rs727505224
|
|
NM_001267550.2(TTN):c.89900_89903del (p.Asn29967fs)
|
rs869312081
|
|
NM_001267550.2(TTN):c.90087_90088del (p.Glu30029fs)
|
rs869312064
|
|
NM_001267550.2(TTN):c.90322_90323insT (p.Glu30108fs)
|
rs869312082
|
|
NM_001267550.2(TTN):c.90370G>T (p.Glu30124Ter)
|
rs1553539995
|
|
NM_001267550.2(TTN):c.90587del (p.Lys30196fs)
|
rs397517749
|
|
NM_001267550.2(TTN):c.91034G>A (p.Trp30345Ter)
|
rs1575512482
|
|
NM_001267550.2(TTN):c.91097_91100del (p.Arg30366fs)
|
rs769422187
|
|
NM_001267550.2(TTN):c.91341_91343delinsTAAGTGGGTGTGA (p.Leu30447_Arg30448delinsPheLysTrpValTer)
|
rs727505076
|
|
NM_001267550.2(TTN):c.91476T>G (p.Tyr30492Ter)
|
rs727504646
|
|
NM_001267550.2(TTN):c.91613_91620del (p.Ile30538fs)
|
|
|
NM_001267550.2(TTN):c.91715dup (p.Asn30572fs)
|
rs779129892
|
|
NM_001267550.2(TTN):c.92284_92288dup (p.Ser30763fs)
|
rs756367933
|
|
NM_001267550.2(TTN):c.92478dup (p.Val30827fs)
|
rs2154147931
|
|
NM_001267550.2(TTN):c.92683C>T (p.Arg30895Ter)
|
rs869312065
|
|
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter)
|
rs72648250
|
|
NM_001267550.2(TTN):c.93897del (p.Phe31299fs)
|
rs397517758
|
|
NM_001267550.2(TTN):c.93974C>A (p.Ser31325Ter)
|
|
|
NM_001267550.2(TTN):c.94180delinsTCTAGCAG (p.Pro31394fs)
|
rs727503547
|
|
NM_001267550.2(TTN):c.94249del (p.Val31417fs)
|
rs869025555
|
|
NM_001267550.2(TTN):c.94344_94347del (p.Lys31448fs)
|
rs727503546
|
|
NM_001267550.2(TTN):c.94562dup (p.Thr31522fs)
|
rs869312083
|
|
NM_001267550.2(TTN):c.94648G>A (p.Glu31550Lys)
|
|
|
NM_001267550.2(TTN):c.94805_94806del (p.Pro31602fs)
|
|
|
NM_001267550.2(TTN):c.94852_94858del (p.Ala31618fs)
|
rs869312066
|
|
NM_001267550.2(TTN):c.95415_95416+2del
|
rs769407533
|
|
NM_001267550.2(TTN):c.95416+4_95416+7del
|
|
|
NM_001267550.2(TTN):c.95966del (p.Asn31989fs)
|
rs72648265
|
|
NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn)
|
rs200540781
|
|
NM_001267550.2(TTN):c.96268C>T (p.Gln32090Ter)
|
rs876657671
|
|
NM_001267550.2(TTN):c.96460dup (p.Thr32154fs)
|
rs869312084
|
|
NM_001267550.2(TTN):c.96613G>A (p.Val32205Met)
|
rs372312129
|
|
NM_001267550.2(TTN):c.96892C>T (p.Gln32298Ter)
|
rs201108270
|
|
NM_001267550.2(TTN):c.9727C>T (p.Gln3243Ter)
|
rs869312093
|
|
NM_001267550.2(TTN):c.97336G>T (p.Gly32446Ter)
|
|
|
NM_001267550.2(TTN):c.97492+1G>C
|
rs727505319
|
|
NM_001267550.2(TTN):c.97524A>G (p.Ile32508Met)
|
rs755848026
|
|
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro)
|
rs55704830
|
|
NM_001267550.2(TTN):c.98054A>G (p.Glu32685Gly)
|
|
|
NM_001267550.2(TTN):c.98134G>T (p.Glu32712Ter)
|
rs727504679
|
|
NM_001267550.2(TTN):c.98265_98268dup (p.His32757fs)
|
rs869312067
|
|
NM_001267550.2(TTN):c.98528G>A (p.Trp32843Ter)
|
rs727504550
|
|
NM_001267550.2(TTN):c.98551C>T (p.Arg32851Ter)
|
rs553821887
|
|
NM_001267550.2(TTN):c.98989+1G>A
|
rs112240298
|
|
NM_001267550.2(TTN):c.98994del (p.Lys32998fs)
|
rs727504535
|
|
NM_001267550.2(TTN):c.99866-1G>A
|
rs876657672
|
|
NM_001276345.2(TNNT2):c.294T>A (p.Asp98Glu)
|
rs397516454
|
|
NM_001276345.2(TNNT2):c.294T>G (p.Asp98Glu)
|
rs397516454
|
|
NM_001276345.2(TNNT2):c.354_355delinsGT (p.His119Tyr)
|
rs876658027
|
|
NM_001276345.2(TNNT2):c.382G>A (p.Glu128Lys)
|
rs397516461
|
|
NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp)
|
rs74315380
|
|
NM_001276345.2(TNNT2):c.422G>A (p.Arg141Gln)
|
rs397516464
|
|
NM_001276345.2(TNNT2):c.422G>C (p.Arg141Pro)
|
rs397516464
|
|
NM_001276345.2(TNNT2):c.430C>G (p.Arg144Gly)
|
rs45525839
|
|
NM_001276345.2(TNNT2):c.430C>T (p.Arg144Trp)
|
rs45525839
|
|
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp)
|
rs74315379
|
|
NM_001276345.2(TNNT2):c.547C>G (p.Arg183Gly)
|
rs727503512
|
|
NM_001276345.2(TNNT2):c.547C>T (p.Arg183Trp)
|
rs727503512
|
|
NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln)
|
rs397516471
|
|
NM_001276345.2(TNNT2):c.572T>G (p.Met191Arg)
|
rs869025538
|
|
NM_001276345.2(TNNT2):c.630G>C (p.Lys210Asn)
|
|
|
NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp)
|
rs45586240
|
|
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del)
|
rs45578238
|
|
NM_001276345.2(TNNT2):c.651G>C (p.Lys217Asn)
|
rs1571605501
|
|
NM_001276345.2(TNNT2):c.652A>G (p.Lys218Glu)
|
|
|
NM_001276345.2(TNNT2):c.808G>A (p.Glu270Lys)
|
rs1131691898
|
|
NM_001276345.2(TNNT2):c.817G>A (p.Val273Ile)
|
rs1571590208
|
|
NM_001281740.3(FHOD3):c.2077C>T (p.Arg693Trp)
|
|
|
NM_001281740.3(FHOD3):c.4304G>A (p.Cys1435Tyr)
|
|
|
NM_001289808.2(CRYAB):c.22C>T (p.Pro8Ser)
|
rs782654756
|
|
NM_001292034.3(TAB2):c.1354C>T (p.Arg452Ter)
|
rs2114887942
|
|
NM_001318895.3(FHL2):c.109G>A (p.Ala37Thr)
|
rs74575749
|
|
NM_001318895.3(FHL2):c.10C>A (p.Arg4Ser)
|
|
|
NM_001318895.3(FHL2):c.11G>C (p.Arg4Pro)
|
rs369109946
|
|
NM_001318895.3(FHL2):c.121G>T (p.Glu41Ter)
|
rs552625336
|
|
NM_001318895.3(FHL2):c.125A>G (p.Glu42Gly)
|
rs1045395933
|
|
NM_001318895.3(FHL2):c.128G>A (p.Cys43Tyr)
|
rs745717988
|
|
NM_001318895.3(FHL2):c.139A>G (p.Ile47Val)
|
rs1682314685
|
|
NM_001318895.3(FHL2):c.142G>A (p.Gly48Ser)
|
rs777846521
|
|
NM_001318895.3(FHL2):c.143G>A (p.Gly48Asp)
|
rs1196386664
|
|
NM_001318895.3(FHL2):c.154A>G (p.Lys52Glu)
|
|
|
NM_001318895.3(FHL2):c.156+9T>C
|
rs1573341781
|
|
NM_001318895.3(FHL2):c.157-3C>T
|
rs112533691
|
|
NM_001318895.3(FHL2):c.157-9G>A
|
|
|
NM_001318895.3(FHL2):c.162G>T (p.Leu54Phe)
|
|
|
NM_001318895.3(FHL2):c.183G>T (p.Trp61Cys)
|
rs772913386
|
|
NM_001318895.3(FHL2):c.191C>G (p.Ala64Gly)
|
rs533310258
|
|
NM_001318895.3(FHL2):c.191C>T (p.Ala64Val)
|
|
|
NM_001318895.3(FHL2):c.208C>G (p.Gln70Glu)
|
|
|
NM_001318895.3(FHL2):c.210G>T (p.Gln70His)
|
|
|
NM_001318895.3(FHL2):c.218A>G (p.Asn73Ser)
|
|
|
NM_001318895.3(FHL2):c.219C>G (p.Asn73Lys)
|
rs1681256120
|
|
NM_001318895.3(FHL2):c.235C>G (p.Pro79Ala)
|
|
|
NM_001318895.3(FHL2):c.235_249del (p.Pro79_Lys83del)
|
|
|
NM_001318895.3(FHL2):c.243T>C (p.Ala81=)
|
|
|
NM_001318895.3(FHL2):c.254A>G (p.Asp85Gly)
|
|
|
NM_001318895.3(FHL2):c.269C>T (p.Thr90Ile)
|
|
|
NM_001318895.3(FHL2):c.270A>G (p.Thr90=)
|
|
|
NM_001318895.3(FHL2):c.278A>T (p.Tyr93Phe)
|
|
|
NM_001318895.3(FHL2):c.285C>G (p.Asn95Lys)
|
rs374383740
|
|
NM_001318895.3(FHL2):c.285C>T (p.Asn95=)
|
rs374383740
|
|
NM_001318895.3(FHL2):c.293C>T (p.Ser98Leu)
|
rs982423684
|
|
NM_001318895.3(FHL2):c.29G>A (p.Cys10Tyr)
|
rs1682328689
|
|
NM_001318895.3(FHL2):c.2T>C (p.Met1Thr)
|
|
|
NM_001318895.3(FHL2):c.307G>A (p.Glu103Lys)
|
rs1681246655
|
|
NM_001318895.3(FHL2):c.311G>A (p.Cys104Tyr)
|
|
|
NM_001318895.3(FHL2):c.331+10C>A
|
|
|
NM_001318895.3(FHL2):c.331+6G>A
|
|
|
NM_001318895.3(FHL2):c.332-11_332-3del
|
|
|
NM_001318895.3(FHL2):c.332-14G>T
|
|
|
NM_001318895.3(FHL2):c.336C>G (p.Thr112=)
|
|
|
NM_001318895.3(FHL2):c.336C>T (p.Thr112=)
|
rs140501334
|
|
NM_001318895.3(FHL2):c.337dup (p.Arg113fs)
|
rs2104507065
|
|
NM_001318895.3(FHL2):c.338G>A (p.Arg113His)
|
rs752531815
|
|
NM_001318895.3(FHL2):c.338G>T (p.Arg113Leu)
|
|
|
NM_001318895.3(FHL2):c.351C>T (p.Tyr117=)
|
rs1553415161
|
|
NM_001318895.3(FHL2):c.388C>T (p.His130Tyr)
|
rs983602593
|
|
NM_001318895.3(FHL2):c.391C>T (p.Arg131Cys)
|
rs397517959
|
|
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.462T>G (p.Tyr154Ter)
|
|
|
NM_001318895.3(FHL2):c.475G>A (p.Ala159Thr)
|
rs1680725217
|
|
NM_001318895.3(FHL2):c.486C>T (p.Cys162=)
|
|
|
NM_001318895.3(FHL2):c.497A>G (p.Lys166Arg)
|
rs2104506293
|
|
NM_001318895.3(FHL2):c.4A>G (p.Thr2Ala)
|
|
|
NM_001318895.3(FHL2):c.501+16C>T
|
|
|
NM_001318895.3(FHL2):c.501+17C>T
|
rs761990478
|
|
NM_001318895.3(FHL2):c.501+5C>G
|
|
|
NM_001318895.3(FHL2):c.501+6T>C
|
|
|
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.502-1G>C
|
rs2104487265
|
|
NM_001318895.3(FHL2):c.502-5T>C
|
rs2104487279
|
|
NM_001318895.3(FHL2):c.513G>C (p.Thr171=)
|
|
|
NM_001318895.3(FHL2):c.521T>A (p.Val174Asp)
|
rs144442113
|
|
NM_001318895.3(FHL2):c.521T>C (p.Val174Ala)
|
rs144442113
|
|
NM_001318895.3(FHL2):c.529C>T (p.Arg177Trp)
|
|
|
NM_001318895.3(FHL2):c.533A>C (p.Glu178Ala)
|
rs1009986435
|
|
NM_001318895.3(FHL2):c.533del (p.Glu178fs)
|
rs1680417431
|
|
NM_001318895.3(FHL2):c.540C>T (p.Pro180=)
|
rs1210749693
|
|
NM_001318895.3(FHL2):c.550G>A (p.Glu184Lys)
|
rs1573274516
|
|
NM_001318895.3(FHL2):c.559G>A (p.Val187Met)
|
rs570903247
|
|
NM_001318895.3(FHL2):c.559G>T (p.Val187Leu)
|
rs570903247
|
|
NM_001318895.3(FHL2):c.566_593del (p.Thr189fs)
|
|
|
NM_001318895.3(FHL2):c.568G>A (p.Ala190Thr)
|
rs1279971079
|
|
NM_001318895.3(FHL2):c.56A>G (p.Tyr19Cys)
|
|
|
NM_001318895.3(FHL2):c.56A>T (p.Tyr19Phe)
|
|
|
NM_001318895.3(FHL2):c.574A>G (p.Arg192Gly)
|
|
|
NM_001318895.3(FHL2):c.576G>A (p.Arg192=)
|
rs747844229
|
|
NM_001318895.3(FHL2):c.596G>A (p.Arg199His)
|
|
|
NM_001318895.3(FHL2):c.610G>A (p.Asp204Asn)
|
rs906250700
|
|
NM_001318895.3(FHL2):c.612T>C (p.Asp204=)
|
|
|
NM_001318895.3(FHL2):c.62T>A (p.Leu21Gln)
|
rs755805016
|
|
NM_001318895.3(FHL2):c.64C>T (p.Arg22Trp)
|
|
|
NM_001318895.3(FHL2):c.655A>C (p.Lys219Gln)
|
|
|
NM_001318895.3(FHL2):c.65G>A (p.Arg22Gln)
|
|
|
NM_001318895.3(FHL2):c.675C>A (p.Thr225=)
|
rs1426474074
|
|
NM_001318895.3(FHL2):c.678C>A (p.Asn226Lys)
|
rs137869171
|
|
NM_001318895.3(FHL2):c.687C>T (p.Ser229=)
|
|
|
NM_001318895.3(FHL2):c.689-2A>G
|
rs1231396526
|
|
NM_001318895.3(FHL2):c.698_699delinsAA (p.Gly233Glu)
|
|
|
NM_001318895.3(FHL2):c.721G>A (p.Glu241Lys)
|
rs1680249986
|
|
NM_001318895.3(FHL2):c.729G>C (p.Gln243His)
|
|
|
NM_001318895.3(FHL2):c.72G>A (p.Glu24=)
|
|
|
NM_001318895.3(FHL2):c.731G>A (p.Trp244Ter)
|
rs2104477866
|
|
NM_001318895.3(FHL2):c.735T>C (p.His245=)
|
rs1573267301
|
|
NM_001318895.3(FHL2):c.738C>G (p.Asn246Lys)
|
|
|
NM_001318895.3(FHL2):c.73dup (p.Ser25fs)
|
rs1682322677
|
|
NM_001318895.3(FHL2):c.742T>C (p.Cys248Arg)
|
rs2104477768
|
|
NM_001318895.3(FHL2):c.74G>A (p.Ser25Asn)
|
|
|
NM_001318895.3(FHL2):c.752G>C (p.Cys251Ser)
|
|
|
NM_001318895.3(FHL2):c.756G>T (p.Lys252Asn)
|
|
|
NM_001318895.3(FHL2):c.759G>A (p.Lys253=)
|
rs1680246034
|
|
NM_001318895.3(FHL2):c.760T>C (p.Cys254Arg)
|
|
|
NM_001318895.3(FHL2):c.794C>G (p.Thr265Arg)
|
|
|
NM_001318895.3(FHL2):c.801G>A (p.Arg267=)
|
rs1573266848
|
|
NM_001318895.3(FHL2):c.805G>A (p.Asp269Asn)
|
|
|
NM_001318895.3(FHL2):c.816C>T (p.Cys272=)
|
rs1573266714
|
|
NM_001318895.3(FHL2):c.81C>A (p.Tyr27Ter)
|
rs727503060
|
|
NM_001318895.3(FHL2):c.823T>G (p.Cys275Gly)
|
rs730880110
|
|
NM_001318895.3(FHL2):c.82T>C (p.Cys28Arg)
|
|
|
NM_001318895.3(FHL2):c.86T>C (p.Val29Ala)
|
|
|
NM_001330.5(CTF1):c.465dup (p.Ala156fs)
|
rs1218236539
|
|
NM_001386795.1(DTNA):c.1265del (p.Ser422fs)
|
|
|
NM_001458.4(FLNC):c.[2971C>T];[318C>G]
|
|
|
NM_001458.5(FLNC):c.233G>A (p.Ser78Asn)
|
rs2128932201
|
|
NM_001458.5(FLNC):c.2785_2786del (p.Thr929fs)
|
|
|
NM_001458.5(FLNC):c.2917G>A (p.Gly973Ser)
|
rs2128936113
|
|
NM_001458.5(FLNC):c.3193-2_3201del
|
|
|
NM_001458.5(FLNC):c.3275_3278delinsAAGA (p.Thr1092_Gly1093delinsLysAsp)
|
rs1585159928
|
|
NM_001458.5(FLNC):c.4192A>G (p.Lys1398Glu)
|
rs1585162066
|
|
NM_001458.5(FLNC):c.4566G>T (p.Gln1522His)
|
rs559667295
|
|
NM_001458.5(FLNC):c.4926_4927insACGTCACA (p.Val1643fs)
|
rs1402879259
|
|
NM_001458.5(FLNC):c.5194G>A (p.Val1732Met)
|
rs374848954
|
|
NM_001458.5(FLNC):c.5503C>T (p.Gln1835Ter)
|
|
|
NM_001458.5(FLNC):c.5897C>A (p.Ser1966Ter)
|
|
|
NM_001458.5(FLNC):c.6883C>T (p.Gln2295Ter)
|
rs1585169831
|
|
NM_001792.5(CDH2):c.1762A>G (p.Thr588Ala)
|
|
|
NM_001927.4(DES):c.1234G>A (p.Glu412Lys)
|
rs869025380
|
|
NM_001927.4(DES):c.1360C>T (p.Arg454Trp)
|
rs267607490
|
|
NM_001927.4(DES):c.376G>A (p.Val126Met)
|
rs876657770
|
|
NM_001927.4(DES):c.38C>T (p.Ser13Phe)
|
rs62636495
|
|
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs)
|
rs397516706
|
|
NM_001999.4(FBN2):c.2679C>G (p.Ser893Arg)
|
rs778473524
|
|
NM_002230.4(JUP):c.1291_1292del (p.Gln431fs)
|
|
|
NM_002230.4(JUP):c.947T>G (p.Val316Gly)
|
rs1915485566
|
|
NM_002230.4(JUP):c.986G>T (p.Trp329Leu)
|
rs1915476980
|
|
NM_002294.3(LAMP2):c.139C>T (p.Gln47Ter)
|
rs2147287624
|
|
NM_002294.3(LAMP2):c.35_52del (p.Ser12_Val17del)
|
rs2147294820
|
|
NM_002294.3(LAMP2):c.999del (p.Glu334fs)
|
rs727504557
|
|
NM_002471.4(MYH6):c.1334A>G (p.Asn445Ser)
|
|
|
NM_002471.4(MYH6):c.2538G>C (p.Glu846Asp)
|
rs730880150
|
|
NM_002471.4(MYH6):c.4231G>A (p.Ala1411Thr)
|
|
|
NM_002471.4(MYH6):c.5476_5477delinsAA (p.Gly1826Asn)
|
rs878854502
|
|
NM_002667.5(PLN):c.25C>T (p.Arg9Cys)
|
rs111033559
|
|
NM_002667.5(PLN):c.37AGA[1] (p.Arg14del)
|
rs397516784
|
|
NM_002880.4(RAF1):c.1220T>A (p.Leu407His)
|
rs869025502
|
|
NM_003280.3(TNNC1):c.25G>A (p.Val9Ile)
|
rs1578264552
|
|
NM_003280.3(TNNC1):c.469A>T (p.Met157Leu)
|
rs730880230
|
|
NM_003319.4(TTN):c.45637dup (p.Thr15213fs)
|
rs876657669
|
|
NM_003319.4(TTN):c.50226dup (p.Ser16743fs)
|
rs730880343
|
|
NM_003319.4(TTN):c.53802_53817del (p.Ala17933_Tyr17934insTer)
|
rs727503559
|
|
NM_003319.4(TTN):c.63583dup (p.Tyr21195fs)
|
rs397517750
|
|
NM_003319.4(TTN):c.80003_80028+4del
|
rs1553479603
|
|
NM_003373.4(VCL):c.659dup (p.Asn220fs)
|
rs397517245
|
|
NM_003373.4(VCL):c.670dup (p.Glu224fs)
|
rs876657674
|
|
NM_003443.3(ZBTB17):c.709CAAGAGGAG[3] (p.237QEE[3])
|
rs573935183
|
|
NM_003476.5(CSRP3):c.233G>T (p.Gly78Val)
|
rs963128995
|
|
NM_003476.5(CSRP3):c.354G>A (p.Glu118=)
|
rs876657767
|
|
NM_003476.5(CSRP3):c.420G>C (p.Trp140Cys)
|
rs1565050320
|
|
NM_003476.5(CSRP3):c.46A>T (p.Thr16Ser)
|
rs1565053147
|
|
NM_003476.5(CSRP3):c.49del (p.Val17fs)
|
rs869025378
|
|
NM_003476.5(CSRP3):c.96G>A (p.Lys32=)
|
rs1565053085
|
|
NM_003673.4(TCAP):c.472C>T (p.Arg158Cys)
|
rs397516863
|
|
NM_004006.3(DMD):c.10034G>A (p.Arg3345Gln)
|
|
|
NM_004006.3(DMD):c.6118-3C>A
|
rs730880074
|
|
NM_004100.4(EYA4):c.724_(804_?)del
|
|
|
NM_004281.4(BAG3):c.100_107del (p.Thr34fs)
|
rs727505283
|
|
NM_004281.4(BAG3):c.1067del (p.Pro356fs)
|
rs727505109
|
|
NM_004281.4(BAG3):c.1153_1160del (p.Ser385fs)
|
rs2134068940
|
|
NM_004281.4(BAG3):c.1297C>T (p.Gln433Ter)
|
rs730880055
|
|
NM_004281.4(BAG3):c.1363G>A (p.Glu455Lys)
|
rs397516881
|
|
NM_004281.4(BAG3):c.252_258dup (p.Pro87fs)
|
rs1564773559
|
|
NM_004281.4(BAG3):c.653G>T (p.Arg218Leu)
|
|
|
NM_004281.4(BAG3):c.72del (p.Gly25fs)
|
rs727502897
|
|
NM_004281.4(BAG3):c.730C>T (p.Gln244Ter)
|
rs876657634
|
|
NM_004281.4(BAG3):c.77G>A (p.Trp26Ter)
|
rs1554875409
|
|
NM_004281.4(BAG3):c.909+1G>A
|
rs869025365
|
|
NM_004281.4(BAG3):c.925C>T (p.Arg309Ter)
|
rs869248137
|
|
NM_004333.6(BRAF):c.83GCGCCG[2] (p.28GA[2])
|
rs397507458
|
|
NM_004387.4(NKX2-5):c.627GCC[4] (p.Pro214del)
|
rs746833511
|
|
NM_004415.2(DSP):c.2131_2132del
|
rs587782927
|
|
NM_004415.4(DSP):c.1067C>A (p.Thr356Lys)
|
rs780626687
|
|
NM_004415.4(DSP):c.1140+2T>G
|
rs869025398
|
|
NM_004415.4(DSP):c.1544C>T (p.Pro515Leu)
|
rs730880079
|
|
NM_004415.4(DSP):c.1615C>T (p.Gln539Ter)
|
rs727504498
|
|
NM_004415.4(DSP):c.2130+1G>A
|
rs727505115
|
|
NM_004415.4(DSP):c.2432T>C (p.Leu811Pro)
|
rs869025391
|
|
NM_004415.4(DSP):c.2614A>T (p.Lys872Ter)
|
|
|
NM_004415.4(DSP):c.2848dup (p.Ile950fs)
|
rs397516927
|
|
NM_004415.4(DSP):c.3133C>T (p.Arg1045Ter)
|
rs1554108012
|
|
NM_004415.4(DSP):c.3346T>C (p.Tyr1116His)
|
rs1581815394
|
|
NM_004415.4(DSP):c.3444T>A (p.Cys1148Ter)
|
|
|
NM_004415.4(DSP):c.3507C>A (p.Tyr1169Ter)
|
rs148894066
|
|
NM_004415.4(DSP):c.3617del (p.Asn1205_Leu1206insTer)
|
|
|
NM_004415.4(DSP):c.4003C>T (p.Gln1335Ter)
|
rs879255521
|
|
NM_004415.4(DSP):c.478C>T (p.Arg160Ter)
|
rs397516943
|
|
NM_004415.4(DSP):c.491_492delinsAGCTCGAGTCCCTCG (p.Ala164fs)
|
rs727504738
|
|
NM_004415.4(DSP):c.534_535insA (p.Gly179fs)
|
rs397516945
|
|
NM_004415.4(DSP):c.5378_5379dup (p.Ala1794fs)
|
rs727502994
|
|
NM_004415.4(DSP):c.55C>T (p.Arg19Cys)
|
rs777340009
|
|
NM_004415.4(DSP):c.5725del (p.Ile1909fs)
|
rs869025399
|
|
NM_004415.4(DSP):c.6185A>G (p.His2062Arg)
|
rs730880086
|
|
NM_004415.4(DSP):c.6305G>C (p.Gly2102Ala)
|
rs572843477
|
|
NM_004415.4(DSP):c.6393del (p.Gly2133fs)
|
rs730880093
|
|
NM_004415.4(DSP):c.712dup (p.Ile238fs)
|
rs397516956
|
|
NM_004415.4(DSP):c.7308T>A (p.Asp2436Glu)
|
rs1581823824
|
|
NM_004415.4(DSP):c.7570_7573del (p.Thr2524fs)
|
rs1561703922
|
|
NM_004415.4(DSP):c.867C>A (p.Cys289Ter)
|
rs397516973
|
|
NM_004588.5(SCN2B):c.332C>T (p.Ser111Leu)
|
rs868793059
|
|
NM_005159.5(ACTC1):c.553C>T (p.Arg185Trp)
|
rs397517065
|
|
NM_005159.5(ACTC1):c.602C>T (p.Ser201Phe)
|
rs730880038
|
|
NM_005159.5(ACTC1):c.756T>G (p.Ile252Met)
|
rs371940910
|
|
NM_005159.5(ACTC1):c.809-58TG[17]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.866T>C (p.Ile289Thr)
|
rs727504379
|
|
NM_005257.6(GATA6):c.701del (p.Pro234fs)
|
|
|
NM_005633.4(SOS1):c.2230A>G (p.Arg744Gly)
|
rs1669494952
|
|
NM_005633.4(SOS1):c.3601C>T (p.Arg1201Trp)
|
rs752395541
|
|
NM_005633.4(SOS1):c.3839AAG[3] (p.Glu1281dup)
|
rs1175436231
|
|
NM_006393.3(NEBL):c.1004G>T (p.Ser335Ile)
|
rs1842654577
|
|
NM_006393.3(NEBL):c.1008+18C>T
|
rs75903914
|
|
NM_006393.3(NEBL):c.1008+1G>C
|
|
|
NM_006393.3(NEBL):c.1008+4_1008+5inv
|
|
|
NM_006393.3(NEBL):c.1008+5A>T
|
|
|
NM_006393.3(NEBL):c.1008+8C>T
|
rs376842299
|
|
NM_006393.3(NEBL):c.1009-10T>C
|
rs1842402338
|
|
NM_006393.3(NEBL):c.1009-6A>G
|
|
|
NM_006393.3(NEBL):c.1009-9C>A
|
rs761381479
|
|
NM_006393.3(NEBL):c.1009G>T (p.Val337Leu)
|
|
|
NM_006393.3(NEBL):c.1020del (p.Glu341fs)
|
rs2131052910
|
|
NM_006393.3(NEBL):c.1021GAA[1] (p.Glu342del)
|
|
|
NM_006393.3(NEBL):c.1028A>G (p.Tyr343Cys)
|
rs876657925
|
|
NM_006393.3(NEBL):c.1037del (p.Asn346fs)
|
rs767349615
|
|
NM_006393.3(NEBL):c.1039A>G (p.Lys347Glu)
|
rs1842398385
|
|
NM_006393.3(NEBL):c.1062T>G (p.Phe354Leu)
|
rs996916612
|
|
NM_006393.3(NEBL):c.1076C>T (p.Ser359Leu)
|
rs1842393771
|
|
NM_006393.3(NEBL):c.1088C>T (p.Ser363Leu)
|
rs747086170
|
|
NM_006393.3(NEBL):c.1104G>C (p.Lys368Asn)
|
rs2131051844
|
|
NM_006393.3(NEBL):c.1112G>A (p.Ser371Asn)
|
|
|
NM_006393.3(NEBL):c.1117-17G>T
|
|
|
NM_006393.3(NEBL):c.1119A>G (p.Lys373=)
|
rs1381516485
|
|
NM_006393.3(NEBL):c.1123del (p.Tyr375fs)
|
|
|
NM_006393.3(NEBL):c.1125C>T (p.Tyr375=)
|
|
|
NM_006393.3(NEBL):c.1129G>T (p.Glu377Ter)
|
|
|
NM_006393.3(NEBL):c.113G>A (p.Ser38Asn)
|
|
|
NM_006393.3(NEBL):c.116T>C (p.Met39Thr)
|
|
|
NM_006393.3(NEBL):c.1189T>G (p.Phe397Val)
|
|
|
NM_006393.3(NEBL):c.1195C>T (p.His399Tyr)
|
|
|
NM_006393.3(NEBL):c.1197T>G (p.His399Gln)
|
rs903764018
|
|
NM_006393.3(NEBL):c.1212C>T (p.Thr404=)
|
|
|
NM_006393.3(NEBL):c.1221G>A (p.Leu407=)
|
rs2131006177
|
|
NM_006393.3(NEBL):c.1227+1G>A
|
rs1841789797
|
|
NM_006393.3(NEBL):c.1227+5G>C
|
rs370026081
|
|
NM_006393.3(NEBL):c.1228-13T>A
|
rs2130972710
|
|
NM_006393.3(NEBL):c.1228-3T>C
|
rs1588750815
|
|
NM_006393.3(NEBL):c.1228-4A>G
|
|
|
NM_006393.3(NEBL):c.1228-4A>T
|
|
|
NM_006393.3(NEBL):c.1228-6_1228-5del
|
|
|
NM_006393.3(NEBL):c.1234T>C (p.Tyr412His)
|
|
|
NM_006393.3(NEBL):c.1241A>C (p.Lys414Thr)
|
|
|
NM_006393.3(NEBL):c.1243G>A (p.Asp415Asn)
|
|
|
NM_006393.3(NEBL):c.1244A>C (p.Asp415Ala)
|
|
|
NM_006393.3(NEBL):c.1246T>A (p.Leu416Met)
|
|
|
NM_006393.3(NEBL):c.1253del (p.Asn418fs)
|
rs768079285
|
|
NM_006393.3(NEBL):c.1259T>C (p.Ile420Thr)
|
rs1841346894
|
|
NM_006393.3(NEBL):c.1269A>G (p.Lys423=)
|
rs138932199
|
|
NM_006393.3(NEBL):c.1269A>T (p.Lys423Asn)
|
rs138932199
|
|
NM_006393.3(NEBL):c.1274T>C (p.Met425Thr)
|
|
|
NM_006393.3(NEBL):c.1300A>C (p.Ile434Leu)
|
|
|
NM_006393.3(NEBL):c.1308A>G (p.Arg436=)
|
|
|
NM_006393.3(NEBL):c.1315C>T (p.Arg439Ter)
|
|
|
NM_006393.3(NEBL):c.1318G>A (p.Ala440Thr)
|
|
|
NM_006393.3(NEBL):c.1322C>G (p.Ser441Cys)
|
rs1841337096
|
|
NM_006393.3(NEBL):c.1338+19C>T
|
rs2130970836
|
|
NM_006393.3(NEBL):c.1338+2377C>T
|
|
|
NM_006393.3(NEBL):c.1339-3C>G
|
|
|
NM_006393.3(NEBL):c.135C>T (p.Cys45=)
|
rs757156256
|
|
NM_006393.3(NEBL):c.136A>G (p.Thr46Ala)
|
rs751607557
|
|
NM_006393.3(NEBL):c.1378A>G (p.Lys460Glu)
|
|
|
NM_006393.3(NEBL):c.1391_1392delinsGG (p.Ala464Gly)
|
rs2130934659
|
|
NM_006393.3(NEBL):c.1401C>G (p.Asp467Glu)
|
rs769479569
|
|
NM_006393.3(NEBL):c.1414C>T (p.Gln472Ter)
|
|
|
NM_006393.3(NEBL):c.1424A>G (p.Lys475Arg)
|
|
|
NM_006393.3(NEBL):c.1429G>A (p.Ala477Thr)
|
|
|
NM_006393.3(NEBL):c.1431_1437del (p.Ala477_Ala478insTer)
|
|
|
NM_006393.3(NEBL):c.1434A>G (p.Ala478=)
|
rs2130934253
|
|
NM_006393.3(NEBL):c.1439T>C (p.Ile480Thr)
|
|
|
NM_006393.3(NEBL):c.1449+12G>A
|
|
|
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.1457A>G (p.Tyr486Cys)
|
|
|
NM_006393.3(NEBL):c.1466A>T (p.Asp489Val)
|
|
|
NM_006393.3(NEBL):c.1469T>C (p.Leu490Pro)
|
rs1840423988
|
|
NM_006393.3(NEBL):c.1473G>A (p.Glu491=)
|
|
|
NM_006393.3(NEBL):c.1473G>T (p.Glu491Asp)
|
|
|
NM_006393.3(NEBL):c.1478A>G (p.Glu493Gly)
|
|
|
NM_006393.3(NEBL):c.1491A>G (p.Lys497=)
|
|
|
NM_006393.3(NEBL):c.1508_1509del (p.Thr503fs)
|
|
|
NM_006393.3(NEBL):c.150C>T (p.Ser50=)
|
rs1465019438
|
|
NM_006393.3(NEBL):c.1510_1513del (p.Asp504fs)
|
rs745728544
|
|
NM_006393.3(NEBL):c.151G>A (p.Asp51Asn)
|
rs1269179367
|
|
NM_006393.3(NEBL):c.153+12G>T
|
rs761120845
|
|
NM_006393.3(NEBL):c.153+1G>A
|
|
|
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.154-3dup
|
rs751577413
|
|
NM_006393.3(NEBL):c.1545C>T (p.Ser515=)
|
|
|
NM_006393.3(NEBL):c.1549A>T (p.Met517Leu)
|
rs1430856878
|
|
NM_006393.3(NEBL):c.1560+18T>A
|
rs1210297527
|
|
NM_006393.3(NEBL):c.1560+18T>C
|
|
|
NM_006393.3(NEBL):c.1560+2T>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.1563del (p.Lys521fs)
|
rs1840390408
|
|
NM_006393.3(NEBL):c.1566A>G (p.Gln522=)
|
|
|
NM_006393.3(NEBL):c.1572del (p.Lys525fs)
|
rs879600856
|
|
NM_006393.3(NEBL):c.1584A>C (p.Glu528Asp)
|
rs1840387740
|
|
NM_006393.3(NEBL):c.1597G>A (p.Gly533Arg)
|
rs541364544
|
|
NM_006393.3(NEBL):c.1604G>A (p.Gly535Glu)
|
|
|
NM_006393.3(NEBL):c.1614G>A (p.Val538=)
|
rs1840384699
|
|
NM_006393.3(NEBL):c.1616G>A (p.Ser539Asn)
|
|
|
NM_006393.3(NEBL):c.1618A>G (p.Met540Val)
|
|
|
NM_006393.3(NEBL):c.161A>G (p.Tyr54Cys)
|
|
|
NM_006393.3(NEBL):c.161A>T (p.Tyr54Phe)
|
|
|
NM_006393.3(NEBL):c.1621G>T (p.Asp541Tyr)
|
|
|
NM_006393.3(NEBL):c.1636C>T (p.Leu546Phe)
|
|
|
NM_006393.3(NEBL):c.1640G>A (p.Arg547Gln)
|
rs747238199
|
|
NM_006393.3(NEBL):c.1643C>G (p.Ala548Gly)
|
rs2130907056
|
|
NM_006393.3(NEBL):c.1671+18A>G
|
|
|
NM_006393.3(NEBL):c.1671+20G>A
|
|
|
NM_006393.3(NEBL):c.1671+4G>A
|
rs528164655
|
|
NM_006393.3(NEBL):c.1671+5G>C
|
|
|
NM_006393.3(NEBL):c.1672-15T>C
|
|
|
NM_006393.3(NEBL):c.1672-3T>C
|
rs1554779376
|
|
NM_006393.3(NEBL):c.1672-5T>G
|
|
|
NM_006393.3(NEBL):c.1672A>C (p.Arg558=)
|
rs944343501
|
|
NM_006393.3(NEBL):c.1677G>T (p.Lys559Asn)
|
rs1013844942
|
|
NM_006393.3(NEBL):c.1691C>T (p.Ala564Val)
|
rs1840109648
|
|
NM_006393.3(NEBL):c.1696A>C (p.Lys566Gln)
|
rs1060503680
|
|
NM_006393.3(NEBL):c.1722A>G (p.Ile574Met)
|
|
|
NM_006393.3(NEBL):c.1723G>A (p.Ala575Thr)
|
|
|
NM_006393.3(NEBL):c.1732C>T (p.Pro578Ser)
|
|
|
NM_006393.3(NEBL):c.173_174del (p.Glu57_Phe58insTer)
|
rs1846880633
|
|
NM_006393.3(NEBL):c.1756A>G (p.Thr586Ala)
|
|
|
NM_006393.3(NEBL):c.1758_1762del (p.Gln587fs)
|
rs758450195
|
|
NM_006393.3(NEBL):c.1775C>A (p.Ala592Glu)
|
rs146275785
|
|
NM_006393.3(NEBL):c.1775C>T (p.Ala592Val)
|
rs146275785
|
|
NM_006393.3(NEBL):c.1777-19T>A
|
|
|
NM_006393.3(NEBL):c.1777-19T>C
|
|
|
NM_006393.3(NEBL):c.1783T>G (p.Tyr595Asp)
|
rs2130874323
|
|
NM_006393.3(NEBL):c.1785T>C (p.Tyr595=)
|
|
|
NM_006393.3(NEBL):c.1803T>C (p.Ala601=)
|
rs2130874098
|
|
NM_006393.3(NEBL):c.1810G>A (p.Ala604Thr)
|
|
|
NM_006393.3(NEBL):c.1821T>C (p.Asp607=)
|
|
|
NM_006393.3(NEBL):c.1833C>T (p.Ile611=)
|
|
|
NM_006393.3(NEBL):c.1837C>A (p.Arg613=)
|
rs146471913
|
|
NM_006393.3(NEBL):c.1837C>G (p.Arg613Gly)
|
|
|
NM_006393.3(NEBL):c.1859A>G (p.Asn620Ser)
|
|
|
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.1869+5G>A
|
rs1346776842
|
|
NM_006393.3(NEBL):c.1869A>G (p.Ser623=)
|
|
|
NM_006393.3(NEBL):c.1870-19A>G
|
|
|
NM_006393.3(NEBL):c.1870-1G>T
|
rs112010030
|
|
NM_006393.3(NEBL):c.1870-20T>G
|
|
|
NM_006393.3(NEBL):c.1872G>A (p.Val624=)
|
|
|
NM_006393.3(NEBL):c.1895A>G (p.His632Arg)
|
|
|
NM_006393.3(NEBL):c.1906A>G (p.Ile636Val)
|
rs1564356559
|
|
NM_006393.3(NEBL):c.1916C>T (p.Pro639Leu)
|
|
|
NM_006393.3(NEBL):c.1928del (p.Lys643fs)
|
rs754334553
|
|
NM_006393.3(NEBL):c.1933G>A (p.Val645Ile)
|
rs1169892636
|
|
NM_006393.3(NEBL):c.1940A>G (p.Glu647Gly)
|
|
|
NM_006393.3(NEBL):c.1943dup (p.Asn648fs)
|
|
|
NM_006393.3(NEBL):c.1948A>G (p.Lys650Glu)
|
|
|
NM_006393.3(NEBL):c.1952A>C (p.Asn651Thr)
|
|
|
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.1987A>C (p.Lys663Gln)
|
rs751064460
|
|
NM_006393.3(NEBL):c.198A>C (p.Thr66=)
|
|
|
NM_006393.3(NEBL):c.1990G>T (p.Ala664Ser)
|
rs2130827997
|
|
NM_006393.3(NEBL):c.2015A>T (p.Glu672Val)
|
|
|
NM_006393.3(NEBL):c.2020G>A (p.Glu674Lys)
|
|
|
NM_006393.3(NEBL):c.2024G>A (p.Arg675Lys)
|
rs1839060822
|
|
NM_006393.3(NEBL):c.2032C>T (p.Arg678Ter)
|
|
|
NM_006393.3(NEBL):c.2041_2043dup (p.Glu681_Gln682insGlu)
|
|
|
NM_006393.3(NEBL):c.2050A>C (p.Ser684Arg)
|
|
|
NM_006393.3(NEBL):c.2051G>A (p.Ser684Asn)
|
|
|
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.2063A>T (p.Tyr688Phe)
|
|
|
NM_006393.3(NEBL):c.2066A>G (p.Lys689Arg)
|
rs1838865198
|
|
NM_006393.3(NEBL):c.2070A>T (p.Gly690=)
|
|
|
NM_006393.3(NEBL):c.2080C>A (p.Arg694=)
|
|
|
NM_006393.3(NEBL):c.2110C>G (p.Leu704Val)
|
rs751282061
|
|
NM_006393.3(NEBL):c.2122A>C (p.Lys708Gln)
|
|
|
NM_006393.3(NEBL):c.2147A>G (p.Asn716Ser)
|
|
|
NM_006393.3(NEBL):c.2148+19del
|
|
|
NM_006393.3(NEBL):c.2148+2T>A
|
|
|
NM_006393.3(NEBL):c.2149-2A>C
|
rs367588562
|
|
NM_006393.3(NEBL):c.2155T>G (p.Tyr719Asp)
|
rs1427758049
|
|
NM_006393.3(NEBL):c.2164C>A (p.Gln722Lys)
|
rs1459943747
|
|
NM_006393.3(NEBL):c.2177C>A (p.Ala726Asp)
|
|
|
NM_006393.3(NEBL):c.2183C>T (p.Thr728Ile)
|
|
|
NM_006393.3(NEBL):c.2191G>A (p.Val731Ile)
|
|
|
NM_006393.3(NEBL):c.2192dup (p.Thr732fs)
|
|
|
NM_006393.3(NEBL):c.2196T>G (p.Thr732=)
|
|
|
NM_006393.3(NEBL):c.21G>A (p.Glu7=)
|
rs1767961581
|
|
NM_006393.3(NEBL):c.2230A>C (p.Asn744His)
|
rs2130804609
|
|
NM_006393.3(NEBL):c.2237G>C (p.Ser746Thr)
|
|
|
NM_006393.3(NEBL):c.2241+18T>C
|
|
|
NM_006393.3(NEBL):c.2242-1G>A
|
|
|
NM_006393.3(NEBL):c.2242-4G>T
|
|
|
NM_006393.3(NEBL):c.2252C>T (p.Thr751Ile)
|
|
|
NM_006393.3(NEBL):c.2262_2275del (p.His754fs)
|
|
|
NM_006393.3(NEBL):c.2266C>T (p.Gln756Ter)
|
|
|
NM_006393.3(NEBL):c.2275G>C (p.Gly759Arg)
|
|
|
NM_006393.3(NEBL):c.2287C>G (p.Leu763Val)
|
rs768389033
|
|
NM_006393.3(NEBL):c.2289G>C (p.Leu763=)
|
rs1196603745
|
|
NM_006393.3(NEBL):c.2301A>T (p.Thr767=)
|
|
|
NM_006393.3(NEBL):c.2313A>T (p.Arg771Ser)
|
|
|
NM_006393.3(NEBL):c.2315A>T (p.His772Leu)
|
|
|
NM_006393.3(NEBL):c.2332A>T (p.Asn778Tyr)
|
|
|
NM_006393.3(NEBL):c.2335C>A (p.His779Asn)
|
rs1438423663
|
|
NM_006393.3(NEBL):c.2346+18C>A
|
|
|
NM_006393.3(NEBL):c.2346+5G>A
|
|
|
NM_006393.3(NEBL):c.2347-18T>C
|
rs2130788646
|
|
NM_006393.3(NEBL):c.2347G>A (p.Val783Ile)
|
|
|
NM_006393.3(NEBL):c.2363A>G (p.Asp788Gly)
|
|
|
NM_006393.3(NEBL):c.2364T>C (p.Asp788=)
|
rs1838317526
|
|
NM_006393.3(NEBL):c.2365T>A (p.Phe789Ile)
|
rs1564345984
|
|
NM_006393.3(NEBL):c.2391T>G (p.Phe797Leu)
|
rs1060503681
|
|
NM_006393.3(NEBL):c.2418A>G (p.Thr806=)
|
rs2130787886
|
|
NM_006393.3(NEBL):c.241G>T (p.Gly81Cys)
|
rs369862013
|
|
NM_006393.3(NEBL):c.2428A>G (p.Arg810Gly)
|
|
|
NM_006393.3(NEBL):c.242G>A (p.Gly81Asp)
|
rs1442801795
|
|
NM_006393.3(NEBL):c.242del (p.Gly81fs)
|
|
|
NM_006393.3(NEBL):c.2433G>A (p.Lys811=)
|
|
|
NM_006393.3(NEBL):c.2439C>A (p.Thr813=)
|
rs757884238
|
|
NM_006393.3(NEBL):c.2446G>A (p.Val816Ile)
|
rs2130787684
|
|
NM_006393.3(NEBL):c.2448C>T (p.Val816=)
|
|
|
NM_006393.3(NEBL):c.2452G>A (p.Asp818Asn)
|
|
|
NM_006393.3(NEBL):c.2465A>T (p.Lys822Ile)
|
|
|
NM_006393.3(NEBL):c.2468G>A (p.Gly823Glu)
|
rs2130787472
|
|
NM_006393.3(NEBL):c.2470G>C (p.Val824Leu)
|
|
|
NM_006393.3(NEBL):c.2475C>T (p.His825=)
|
rs727503334
|
|
NM_006393.3(NEBL):c.2480A>G (p.His827Arg)
|
rs372763596
|
|
NM_006393.3(NEBL):c.2481C>G (p.His827Gln)
|
|
|
NM_006393.3(NEBL):c.2483T>A (p.Ile828Asn)
|
rs2130787312
|
|
NM_006393.3(NEBL):c.2499G>T (p.Arg833Ser)
|
rs727505285
|
|
NM_006393.3(NEBL):c.2501G>A (p.Arg834Lys)
|
|
|
NM_006393.3(NEBL):c.250A>T (p.Ile84Phe)
|
|
|
NM_006393.3(NEBL):c.2511C>T (p.Ile837=)
|
|
|
NM_006393.3(NEBL):c.2517T>G (p.Val839=)
|
|
|
NM_006393.3(NEBL):c.2518+10C>A
|
rs747607700
|
|
NM_006393.3(NEBL):c.2518+13C>T
|
|
|
NM_006393.3(NEBL):c.2519-1G>A
|
|
|
NM_006393.3(NEBL):c.2519-1G>T
|
|
|
NM_006393.3(NEBL):c.2519-2A>G
|
|
|
NM_006393.3(NEBL):c.2519-2del
|
rs754453916
|
|
NM_006393.3(NEBL):c.2519-3A>G
|
rs1396613955
|
|
NM_006393.3(NEBL):c.2534G>A (p.Arg845His)
|
rs761052528
|
|
NM_006393.3(NEBL):c.2543C>T (p.Pro848Leu)
|
rs1837961214
|
|
NM_006393.3(NEBL):c.258+3A>G
|
|
|
NM_006393.3(NEBL):c.259-10T>C
|
|
|
NM_006393.3(NEBL):c.259-19C>G
|
|
|
NM_006393.3(NEBL):c.259-2A>G
|
|
|
NM_006393.3(NEBL):c.259-6_259-5insT
|
|
|
NM_006393.3(NEBL):c.259-7C>G
|
rs201590910
|
|
NM_006393.3(NEBL):c.259-7C>T
|
|
|
NM_006393.3(NEBL):c.2599C>T (p.His867Tyr)
|
|
|
NM_006393.3(NEBL):c.259G>A (p.Ala87Thr)
|
rs368856187
|
|
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.2612-6A>G
|
rs377317796
|
|
NM_006393.3(NEBL):c.2618C>T (p.Ala873Val)
|
|
|
NM_006393.3(NEBL):c.2643T>C (p.Ser881=)
|
|
|
NM_006393.3(NEBL):c.2645G>T (p.Arg882Leu)
|
rs758877499
|
|
NM_006393.3(NEBL):c.2653T>C (p.Ser885Pro)
|
|
|
NM_006393.3(NEBL):c.2658C>G (p.Ser886Arg)
|
|
|
NM_006393.3(NEBL):c.2674G>T (p.Gly892Cys)
|
|
|
NM_006393.3(NEBL):c.2682A>G (p.Gly894=)
|
rs1334949712
|
|
NM_006393.3(NEBL):c.2683GAC[1] (p.Asp896del)
|
rs1837836867
|
|
NM_006393.3(NEBL):c.2686G>A (p.Asp896Asn)
|
|
|
NM_006393.3(NEBL):c.2686dup (p.Asp896fs)
|
rs766320208
|
|
NM_006393.3(NEBL):c.2689A>G (p.Arg897Gly)
|
rs2130760889
|
|
NM_006393.3(NEBL):c.2699_2700delinsAA (p.Ile900Lys)
|
|
|
NM_006393.3(NEBL):c.2725T>C (p.Cys909Arg)
|
|
|
NM_006393.3(NEBL):c.2726G>A (p.Cys909Tyr)
|
|
|
NM_006393.3(NEBL):c.2734G>A (p.Glu912Lys)
|
|
|
NM_006393.3(NEBL):c.2737G>A (p.Val913Ile)
|
rs1564341986
|
|
NM_006393.3(NEBL):c.2740A>T (p.Thr914Ser)
|
rs1369499702
|
|
NM_006393.3(NEBL):c.2747C>T (p.Pro916Leu)
|
rs143149169
|
|
NM_006393.3(NEBL):c.275C>G (p.Thr92Ser)
|
|
|
NM_006393.3(NEBL):c.2771T>A (p.Leu924His)
|
|
|
NM_006393.3(NEBL):c.2776G>A (p.Gly926Arg)
|
|
|
NM_006393.3(NEBL):c.2777G>C (p.Gly926Ala)
|
|
|
NM_006393.3(NEBL):c.2778A>T (p.Gly926=)
|
rs1835500948
|
|
NM_006393.3(NEBL):c.2813A>G (p.Tyr938Cys)
|
rs1024719266
|
|
NM_006393.3(NEBL):c.2814C>T (p.Tyr938=)
|
|
|
NM_006393.3(NEBL):c.2816T>A (p.Met939Lys)
|
|
|
NM_006393.3(NEBL):c.2823G>A (p.Gln941=)
|
|
|
NM_006393.3(NEBL):c.2830G>A (p.Val944Met)
|
|
|
NM_006393.3(NEBL):c.2833_2841del (p.Ser945_Met947del)
|
|
|
NM_006393.3(NEBL):c.2839A>C (p.Met947Leu)
|
|
|
NM_006393.3(NEBL):c.2847A>T (p.Ser949=)
|
rs1060504994
|
|
NM_006393.3(NEBL):c.2849T>C (p.Met950Thr)
|
rs1835493262
|
|
NM_006393.3(NEBL):c.284C>G (p.Ala95Gly)
|
rs769868347
|
|
NM_006393.3(NEBL):c.2851C>T (p.Gln951Ter)
|
rs2131619034
|
|
NM_006393.3(NEBL):c.2864dup (p.Asn955fs)
|
rs2131618949
|
|
NM_006393.3(NEBL):c.2868+11A>C
|
rs2131618868
|
|
NM_006393.3(NEBL):c.2869-9C>T
|
|
|
NM_006393.3(NEBL):c.2890G>A (p.Asp964Asn)
|
|
|
NM_006393.3(NEBL):c.2895C>T (p.Tyr965=)
|
rs2131613989
|
|
NM_006393.3(NEBL):c.2897G>T (p.Ser966Ile)
|
|
|
NM_006393.3(NEBL):c.28A>G (p.Lys10Glu)
|
|
|
NM_006393.3(NEBL):c.2905G>T (p.Asp969Tyr)
|
rs1588586303
|
|
NM_006393.3(NEBL):c.2906A>G (p.Asp969Gly)
|
rs2131613917
|
|
NM_006393.3(NEBL):c.2932G>A (p.Gly978Ser)
|
rs1835362564
|
|
NM_006393.3(NEBL):c.2934C>T (p.Gly978=)
|
|
|
NM_006393.3(NEBL):c.2935G>A (p.Asp979Asn)
|
|
|
NM_006393.3(NEBL):c.2943C>A (p.Ile981=)
|
|
|
NM_006393.3(NEBL):c.2947A>G (p.Asn983Asp)
|
rs1835360345
|
|
NM_006393.3(NEBL):c.2949C>T (p.Asn983=)
|
|
|
NM_006393.3(NEBL):c.2955G>T (p.Gln985His)
|
rs201571938
|
|
NM_006393.3(NEBL):c.2965G>A (p.Asp989Asn)
|
|
|
NM_006393.3(NEBL):c.2966A>G (p.Asp989Gly)
|
|
|
NM_006393.3(NEBL):c.2979C>T (p.Tyr993=)
|
|
|
NM_006393.3(NEBL):c.297T>G (p.Asn99Lys)
|
rs1363794425
|
|
NM_006393.3(NEBL):c.2985A>G (p.Thr995=)
|
rs534621300
|
|
NM_006393.3(NEBL):c.3013C>T (p.Leu1005Phe)
|
|
|
NM_006393.3(NEBL):c.3021G>A (p.Ala1007=)
|
|
|
NM_006393.3(NEBL):c.3031G>A (p.Glu1011Lys)
|
rs375208825
|
|
NM_006393.3(NEBL):c.3036T>C (p.Phe1012=)
|
|
|
NM_006393.3(NEBL):c.3043T>C (p.Ter1015Gln)
|
rs763015983
|
|
NM_006393.3(NEBL):c.311G>T (p.Arg104Leu)
|
|
|
NM_006393.3(NEBL):c.312G>T (p.Arg104=)
|
|
|
NM_006393.3(NEBL):c.327T>C (p.Ile109=)
|
|
|
NM_006393.3(NEBL):c.344_346del (p.Gly115del)
|
rs773042028
|
|
NM_006393.3(NEBL):c.359T>C (p.Leu120Pro)
|
|
|
NM_006393.3(NEBL):c.366T>A (p.Ser122Arg)
|
|
|
NM_006393.3(NEBL):c.369+12C>T
|
|
|
NM_006393.3(NEBL):c.369+1G>A
|
|
|
NM_006393.3(NEBL):c.369+4G>A
|
|
|
NM_006393.3(NEBL):c.370-10T>C
|
|
|
NM_006393.3(NEBL):c.370-19A>C
|
|
|
NM_006393.3(NEBL):c.370-2A>G
|
|
|
NM_006393.3(NEBL):c.373G>A (p.Ala125Thr)
|
|
|
NM_006393.3(NEBL):c.383A>G (p.Gln128Arg)
|
rs139809958
|
|
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.418G>C (p.Ala140Pro)
|
rs2131316427
|
|
NM_006393.3(NEBL):c.419C>G (p.Ala140Gly)
|
|
|
NM_006393.3(NEBL):c.434C>T (p.Pro145Leu)
|
rs1845953617
|
|
NM_006393.3(NEBL):c.439G>A (p.Glu147Lys)
|
|
|
NM_006393.3(NEBL):c.448C>T (p.His150Tyr)
|
|
|
NM_006393.3(NEBL):c.451G>A (p.Ala151Thr)
|
|
|
NM_006393.3(NEBL):c.454A>G (p.Met152Val)
|
|
|
NM_006393.3(NEBL):c.455T>C (p.Met152Thr)
|
|
|
NM_006393.3(NEBL):c.456G>A (p.Met152Ile)
|
rs1238447316
|
|
NM_006393.3(NEBL):c.464A>G (p.Asn155Ser)
|
|
|
NM_006393.3(NEBL):c.479A>G (p.Asn160Ser)
|
|
|
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.480T>G (p.Asn160Lys)
|
|
|
NM_006393.3(NEBL):c.481-10C>T
|
|
|
NM_006393.3(NEBL):c.481-14C>G
|
|
|
NM_006393.3(NEBL):c.481-18A>T
|
|
|
NM_006393.3(NEBL):c.481-6G>A
|
rs1286250524
|
|
NM_006393.3(NEBL):c.496G>C (p.Asp166His)
|
rs780036701
|
|
NM_006393.3(NEBL):c.498C>A (p.Asp166Glu)
|
rs371105861
|
|
NM_006393.3(NEBL):c.502C>G (p.Gln168Glu)
|
|
|
NM_006393.3(NEBL):c.505_526dup (p.Glu176fs)
|
|
|
NM_006393.3(NEBL):c.509C>T (p.Thr170Ile)
|
rs1564404256
|
|
NM_006393.3(NEBL):c.515C>T (p.Thr172Met)
|
rs548438161
|
|
NM_006393.3(NEBL):c.528A>G (p.Glu176=)
|
|
|
NM_006393.3(NEBL):c.53T>C (p.Ile18Thr)
|
|
|
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.574A>G (p.Ile192Val)
|
rs758465790
|
|
NM_006393.3(NEBL):c.582+14C>T
|
|
|
NM_006393.3(NEBL):c.582+15T>C
|
|
|
NM_006393.3(NEBL):c.58G>A (p.Glu20Lys)
|
rs2131413901
|
|
NM_006393.3(NEBL):c.590A>G (p.Tyr197Cys)
|
|
|
NM_006393.3(NEBL):c.614A>G (p.Asn205Ser)
|
rs794729077
|
|
NM_006393.3(NEBL):c.641C>T (p.Pro214Leu)
|
|
|
NM_006393.3(NEBL):c.647T>C (p.Phe216Ser)
|
|
|
NM_006393.3(NEBL):c.652C>T (p.His218Tyr)
|
|
|
NM_006393.3(NEBL):c.658G>A (p.Val220Met)
|
rs571563897
|
|
NM_006393.3(NEBL):c.658G>T (p.Val220Leu)
|
rs571563897
|
|
NM_006393.3(NEBL):c.65A>G (p.Glu22Gly)
|
|
|
NM_006393.3(NEBL):c.67_72del (p.Asn23_Glu24del)
|
rs778962398
|
|
NM_006393.3(NEBL):c.685-11T>C
|
|
|
NM_006393.3(NEBL):c.685-15T>G
|
|
|
NM_006393.3(NEBL):c.687T>G (p.Ile229Met)
|
rs768661641
|
|
NM_006393.3(NEBL):c.692A>T (p.Tyr231Phe)
|
rs920640841
|
|
NM_006393.3(NEBL):c.700A>G (p.Lys234Glu)
|
rs568662113
|
|
NM_006393.3(NEBL):c.709A>G (p.Asn237Asp)
|
rs1588846853
|
|
NM_006393.3(NEBL):c.711T>C (p.Asn237=)
|
rs2131147146
|
|
NM_006393.3(NEBL):c.722A>T (p.Asp241Val)
|
|
|
NM_006393.3(NEBL):c.72AGA[1] (p.Glu25del)
|
rs794729080
|
|
NM_006393.3(NEBL):c.732T>A (p.His244Gln)
|
rs1843479030
|
|
NM_006393.3(NEBL):c.738C>G (p.Tyr246Ter)
|
rs778455217
|
|
NM_006393.3(NEBL):c.755C>T (p.Ala252Val)
|
rs2131146354
|
|
NM_006393.3(NEBL):c.765_766delinsAA (p.Gln256Lys)
|
rs1843470481
|
|
NM_006393.3(NEBL):c.773A>G (p.Gln258Arg)
|
rs924565857
|
|
NM_006393.3(NEBL):c.791C>T (p.Ala264Val)
|
rs548922223
|
|
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.801G>T (p.Val267=)
|
|
|
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.814G>C (p.Asp272His)
|
|
|
NM_006393.3(NEBL):c.82-15T>C
|
rs2131413042
|
|
NM_006393.3(NEBL):c.82-8dup
|
|
|
NM_006393.3(NEBL):c.822A>G (p.Gln274=)
|
|
|
NM_006393.3(NEBL):c.826A>G (p.Met276Val)
|
rs1373986579
|
|
NM_006393.3(NEBL):c.828G>A (p.Met276Ile)
|
|
|
NM_006393.3(NEBL):c.838G>A (p.Val280Ile)
|
|
|
NM_006393.3(NEBL):c.853A>G (p.Asn285Asp)
|
rs1843299381
|
|
NM_006393.3(NEBL):c.858G>C (p.Leu286Phe)
|
|
|
NM_006393.3(NEBL):c.858G>T (p.Leu286Phe)
|
rs765274802
|
|
NM_006393.3(NEBL):c.858GTT[1] (p.Leu287del)
|
rs757466908
|
|
NM_006393.3(NEBL):c.863T>C (p.Phe288Ser)
|
|
|
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_006393.3(NEBL):c.903+1G>A
|
rs775057540
|
|
NM_006393.3(NEBL):c.903+2del
|
rs1588839902
|
|
NM_006393.3(NEBL):c.903+4dup
|
rs1564391383
|
|
NM_006393.3(NEBL):c.905G>A (p.Arg302Gln)
|
|
|
NM_006393.3(NEBL):c.940A>G (p.Met314Val)
|
|
|
NM_006393.3(NEBL):c.942G>A (p.Met314Ile)
|
|
|
NM_006393.3(NEBL):c.959A>G (p.Asp320Gly)
|
|
|
NM_006393.3(NEBL):c.962C>T (p.Ala321Val)
|
rs1842659148
|
|
NM_006393.3(NEBL):c.976C>T (p.His326Tyr)
|
rs1232048555
|
|
NM_006393.3(NEBL):c.980A>G (p.His327Arg)
|
|
|
NM_006440.5(TXNRD2):c.1002T>C (p.Thr334=)
|
rs1938875775
|
|
NM_006440.5(TXNRD2):c.1009G>A (p.Asp337Asn)
|
|
|
NM_006440.5(TXNRD2):c.1011C>A (p.Asp337Glu)
|
rs1569073275
|
|
NM_006440.5(TXNRD2):c.1029G>A (p.Val343=)
|
rs758006460
|
|
NM_006440.5(TXNRD2):c.103+13C>G
|
|
|
NM_006440.5(TXNRD2):c.103+14dup
|
rs756452923
|
|
NM_006440.5(TXNRD2):c.103+17G>T
|
|
|
NM_006440.5(TXNRD2):c.1032C>A (p.Asp344Glu)
|
|
|
NM_006440.5(TXNRD2):c.1032C>T (p.Asp344=)
|
rs759106464
|
|
NM_006440.5(TXNRD2):c.103G>C (p.Ala35Pro)
|
|
|
NM_006440.5(TXNRD2):c.104-10del
|
|
|
NM_006440.5(TXNRD2):c.104-12C>G
|
|
|
NM_006440.5(TXNRD2):c.104-14A>T
|
|
|
NM_006440.5(TXNRD2):c.104-1G>A
|
rs781473800
|
|
NM_006440.5(TXNRD2):c.1058A>C (p.His353Pro)
|
rs1307604976
|
|
NM_006440.5(TXNRD2):c.1058A>G (p.His353Arg)
|
rs1307604976
|
|
NM_006440.5(TXNRD2):c.1059C>T (p.His353=)
|
rs2145939709
|
|
NM_006440.5(TXNRD2):c.1066G>A (p.Ala356Thr)
|
rs576244023
|
|
NM_006440.5(TXNRD2):c.1070T>C (p.Ile357Thr)
|
|
|
NM_006440.5(TXNRD2):c.1078G>C (p.Val360Leu)
|
|
|
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.1087-16del
|
rs34827823
|
|
NM_006440.5(TXNRD2):c.1087-16dup
|
|
|
NM_006440.5(TXNRD2):c.1087-4C>T
|
rs942304915
|
|
NM_006440.5(TXNRD2):c.1091G>T (p.Arg364Leu)
|
rs199734322
|
|
NM_006440.5(TXNRD2):c.1106C>A (p.Pro369His)
|
rs1489194482
|
|
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.1117A>G (p.Met373Val)
|
rs2145933186
|
|
NM_006440.5(TXNRD2):c.1118T>C (p.Met373Thr)
|
rs1938732295
|
|
NM_006440.5(TXNRD2):c.1122C>G (p.Ala374=)
|
|
|
NM_006440.5(TXNRD2):c.1123G>C (p.Gly375Arg)
|
rs757239766
|
|
NM_006440.5(TXNRD2):c.1124G>T (p.Gly375Val)
|
|
|
NM_006440.5(TXNRD2):c.1142G>A (p.Arg381Gln)
|
rs774909194
|
|
NM_006440.5(TXNRD2):c.1150G>A (p.Gly384Ser)
|
rs192869629
|
|
NM_006440.5(TXNRD2):c.1150G>C (p.Gly384Arg)
|
rs192869629
|
|
NM_006440.5(TXNRD2):c.1153G>A (p.Gly385Arg)
|
rs528059873
|
|
NM_006440.5(TXNRD2):c.1154G>C (p.Gly385Ala)
|
rs1938727490
|
|
NM_006440.5(TXNRD2):c.1173C>T (p.Asp391=)
|
|
|
NM_006440.5(TXNRD2):c.1178A>G (p.Asp393Gly)
|
rs2145932871
|
|
NM_006440.5(TXNRD2):c.1180A>G (p.Asn394Asp)
|
|
|
NM_006440.5(TXNRD2):c.1182T>C (p.Asn394=)
|
rs1938724361
|
|
NM_006440.5(TXNRD2):c.1183-10_1183-7del
|
rs1569070709
|
|
NM_006440.5(TXNRD2):c.1183-4T>C
|
|
|
NM_006440.5(TXNRD2):c.1188C>T (p.Pro396=)
|
|
|
NM_006440.5(TXNRD2):c.1191G>A (p.Thr397=)
|
rs1292463748
|
|
NM_006440.5(TXNRD2):c.11T>C (p.Met4Thr)
|
rs1429174414
|
|
NM_006440.5(TXNRD2):c.1205C>T (p.Pro402Leu)
|
|
|
NM_006440.5(TXNRD2):c.1252C>T (p.Arg418Cys)
|
|
|
NM_006440.5(TXNRD2):c.1253G>A (p.Arg418His)
|
rs1388670551
|
|
NM_006440.5(TXNRD2):c.1254C>T (p.Arg418=)
|
rs1188379074
|
|
NM_006440.5(TXNRD2):c.1257C>T (p.His419=)
|
|
|
NM_006440.5(TXNRD2):c.1258G>A (p.Gly420Arg)
|
|
|
NM_006440.5(TXNRD2):c.1262A>G (p.Gln421Arg)
|
|
|
NM_006440.5(TXNRD2):c.1266G>A (p.Glu422=)
|
rs1569070557
|
|
NM_006440.5(TXNRD2):c.1266G>C (p.Glu422Asp)
|
rs1569070557
|
|
NM_006440.5(TXNRD2):c.1275+6G>A
|
|
|
NM_006440.5(TXNRD2):c.1276-11C>A
|
|
|
NM_006440.5(TXNRD2):c.1276-16_1276-14del
|
rs543441133
|
|
NM_006440.5(TXNRD2):c.1276-1G>A
|
rs2145927925
|
|
NM_006440.5(TXNRD2):c.1280A>G (p.Tyr427Cys)
|
rs1938608628
|
|
NM_006440.5(TXNRD2):c.1284C>T (p.His428=)
|
|
|
NM_006440.5(TXNRD2):c.1301T>C (p.Leu434Pro)
|
rs2145927851
|
|
NM_006440.5(TXNRD2):c.1302G>A (p.Leu434=)
|
|
|
NM_006440.5(TXNRD2):c.1310C>T (p.Thr437Met)
|
|
|
NM_006440.5(TXNRD2):c.1311G>A (p.Thr437=)
|
|
|
NM_006440.5(TXNRD2):c.1332C>A (p.Ser444=)
|
rs1938606312
|
|
NM_006440.5(TXNRD2):c.1334A>G (p.Gln445Arg)
|
rs1938606140
|
|
NM_006440.5(TXNRD2):c.1347+13G>A
|
|
|
NM_006440.5(TXNRD2):c.1348-13G>A
|
|
|
NM_006440.5(TXNRD2):c.136G>A (p.Gly46Ser)
|
|
|
NM_006440.5(TXNRD2):c.1370dup (p.Gln458fs)
|
rs758790391
|
|
NM_006440.5(TXNRD2):c.1371A>G (p.Pro457=)
|
|
|
NM_006440.5(TXNRD2):c.1375C>T (p.Leu459=)
|
rs2145927277
|
|
NM_006440.5(TXNRD2):c.1378G>A (p.Val460Met)
|
rs770442788
|
|
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>G (p.Asn469Lys)
|
rs200063300
|
|
NM_006440.5(TXNRD2):c.1407C>T (p.Asn469=)
|
rs200063300
|
|
NM_006440.5(TXNRD2):c.1420A>G (p.Thr474Ala)
|
|
|
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.1445+7C>A
|
|
|
NM_006440.5(TXNRD2):c.1445A>C (p.Lys482Thr)
|
rs763072970
|
|
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.1451G>A (p.Gly484Glu)
|
rs1409074647
|
|
NM_006440.5(TXNRD2):c.1460A>C (p.Tyr487Ser)
|
|
|
NM_006440.5(TXNRD2):c.1471A>G (p.Met491Val)
|
|
|
NM_006440.5(TXNRD2):c.1478C>T (p.Thr493Ile)
|
|
|
NM_006440.5(TXNRD2):c.1484G>T (p.Gly495Val)
|
|
|
NM_006440.5(TXNRD2):c.1492C>T (p.Pro498Ser)
|
rs1569068105
|
|
NM_006440.5(TXNRD2):c.1499_1500delinsAA (p.Cys500Ter)
|
|
|
NM_006440.5(TXNRD2):c.14C>G (p.Ala5Gly)
|
|
|
NM_006440.5(TXNRD2):c.14C>T (p.Ala5Val)
|
rs775392322
|
|
NM_006440.5(TXNRD2):c.1514T>C (p.Val505Ala)
|
rs759613137
|
|
NM_006440.5(TXNRD2):c.1515C>T (p.Val505=)
|
|
|
NM_006440.5(TXNRD2):c.1522C>G (p.Arg508Gly)
|
rs368176907
|
|
NM_006440.5(TXNRD2):c.1546G>C (p.Asp516His)
|
rs1221993025
|
|
NM_006440.5(TXNRD2):c.1553C>T (p.Thr518Met)
|
|
|
NM_006440.5(TXNRD2):c.1560A>C (p.Thr520=)
|
rs763666305
|
|
NM_006440.5(TXNRD2):c.1572G>A (p.Gly524=)
|
|
|
NM_006440.5(TXNRD2):c.1575A>C (p.Ter525Tyr)
|
|
|
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.177_178delinsTT (p.Gln60Ter)
|
rs1940808459
|
|
NM_006440.5(TXNRD2):c.187A>G (p.Arg63Gly)
|
rs2146049658
|
|
NM_006440.5(TXNRD2):c.198C>T (p.Ala66=)
|
|
|
NM_006440.5(TXNRD2):c.1A>G (p.Met1Val)
|
|
|
NM_006440.5(TXNRD2):c.205G>T (p.Asp69Tyr)
|
rs768403549
|
|
NM_006440.5(TXNRD2):c.20C>G (p.Ala7Gly)
|
|
|
NM_006440.5(TXNRD2):c.211G>A (p.Val71Met)
|
|
|
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.230-2A>G
|
|
|
NM_006440.5(TXNRD2):c.236G>T (p.Arg79Leu)
|
rs373979810
|
|
NM_006440.5(TXNRD2):c.247G>A (p.Gly83Ser)
|
|
|
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.26G>C (p.Arg9Pro)
|
|
|
NM_006440.5(TXNRD2):c.279C>T (p.Pro93=)
|
|
|
NM_006440.5(TXNRD2):c.284A>G (p.Lys95Arg)
|
|
|
NM_006440.5(TXNRD2):c.299C>A (p.Ala100Glu)
|
rs767878935
|
|
NM_006440.5(TXNRD2):c.299C>T (p.Ala100Val)
|
|
|
NM_006440.5(TXNRD2):c.29G>C (p.Gly10Ala)
|
rs1159919237
|
|
NM_006440.5(TXNRD2):c.300G>A (p.Ala100=)
|
|
|
NM_006440.5(TXNRD2):c.313G>A (p.Gly105Ser)
|
rs1429132177
|
|
NM_006440.5(TXNRD2):c.335A>G (p.Asn112Ser)
|
|
|
NM_006440.5(TXNRD2):c.335A>T (p.Asn112Ile)
|
rs758941896
|
|
NM_006440.5(TXNRD2):c.337T>C (p.Tyr113His)
|
rs869025560
|
|
NM_006440.5(TXNRD2):c.364C>A (p.Pro122Thr)
|
|
|
NM_006440.5(TXNRD2):c.364C>T (p.Pro122Ser)
|
rs1432720365
|
|
NM_006440.5(TXNRD2):c.365C>T (p.Pro122Leu)
|
|
|
NM_006440.5(TXNRD2):c.366G>T (p.Pro122=)
|
rs3747068
|
|
NM_006440.5(TXNRD2):c.374+16C>A
|
rs141500917
|
|
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.382A>T (p.Met128Leu)
|
rs1940724639
|
|
NM_006440.5(TXNRD2):c.385G>A (p.Ala129Thr)
|
|
|
NM_006440.5(TXNRD2):c.392C>G (p.Ala131Gly)
|
rs368359642
|
|
NM_006440.5(TXNRD2):c.392C>T (p.Ala131Val)
|
rs368359642
|
|
NM_006440.5(TXNRD2):c.403del (p.His135fs)
|
rs1940723314
|
|
NM_006440.5(TXNRD2):c.406G>A (p.Val136Met)
|
rs749100112
|
|
NM_006440.5(TXNRD2):c.413C>T (p.Ser138Phe)
|
|
|
NM_006440.5(TXNRD2):c.41_42delinsTT (p.Arg14Leu)
|
rs2146120283
|
|
NM_006440.5(TXNRD2):c.428A>G (p.His143Arg)
|
|
|
NM_006440.5(TXNRD2):c.431G>A (p.Arg144His)
|
rs748674090
|
|
NM_006440.5(TXNRD2):c.431G>C (p.Arg144Pro)
|
rs748674090
|
|
NM_006440.5(TXNRD2):c.431G>T (p.Arg144Leu)
|
|
|
NM_006440.5(TXNRD2):c.43T>A (p.Phe15Ile)
|
|
|
NM_006440.5(TXNRD2):c.449+13T>C
|
|
|
NM_006440.5(TXNRD2):c.449+14C>G
|
|
|
NM_006440.5(TXNRD2):c.449+2T>G
|
|
|
NM_006440.5(TXNRD2):c.449+3A>G
|
rs754205571
|
|
NM_006440.5(TXNRD2):c.449+7_449+12del
|
|
|
NM_006440.5(TXNRD2):c.450-15_450-14del
|
rs767787404
|
|
NM_006440.5(TXNRD2):c.450-2A>G
|
|
|
NM_006440.5(TXNRD2):c.462C>G (p.Tyr154Ter)
|
rs182857388
|
|
NM_006440.5(TXNRD2):c.479G>A (p.Ser160Asn)
|
rs1255947483
|
|
NM_006440.5(TXNRD2):c.486T>C (p.Val162=)
|
|
|
NM_006440.5(TXNRD2):c.51G>C (p.Trp17Cys)
|
rs2146120227
|
|
NM_006440.5(TXNRD2):c.528+2T>C
|
rs775856560
|
|
NM_006440.5(TXNRD2):c.529-3_529-2del
|
|
|
NM_006440.5(TXNRD2):c.529-8C>A
|
rs754998172
|
|
NM_006440.5(TXNRD2):c.529-9dup
|
|
|
NM_006440.5(TXNRD2):c.52C>T (p.Arg18Trp)
|
rs1060501404
|
|
NM_006440.5(TXNRD2):c.553A>G (p.Ile185Val)
|
|
|
NM_006440.5(TXNRD2):c.564T>C (p.Thr188=)
|
|
|
NM_006440.5(TXNRD2):c.56C>T (p.Thr19Met)
|
|
|
NM_006440.5(TXNRD2):c.58C>T (p.Gln20Ter)
|
|
|
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+1G>A
|
rs200610775
|
|
NM_006440.5(TXNRD2):c.591+4_591+5del
|
|
|
NM_006440.5(TXNRD2):c.591+7G>T
|
rs1166950452
|
|
NM_006440.5(TXNRD2):c.592-2_602del
|
|
|
NM_006440.5(TXNRD2):c.593T>C (p.Ile198Thr)
|
|
|
NM_006440.5(TXNRD2):c.599G>A (p.Gly200Asp)
|
rs112854076
|
|
NM_006440.5(TXNRD2):c.59A>T (p.Gln20Leu)
|
|
|
NM_006440.5(TXNRD2):c.631A>G (p.Ile211Val)
|
|
|
NM_006440.5(TXNRD2):c.64G>A (p.Val22Met)
|
rs370819229
|
|
NM_006440.5(TXNRD2):c.64G>T (p.Val22Leu)
|
rs370819229
|
|
NM_006440.5(TXNRD2):c.650C>T (p.Ser217Phe)
|
|
|
NM_006440.5(TXNRD2):c.655G>C (p.Gly219Arg)
|
rs1940404247
|
|
NM_006440.5(TXNRD2):c.662+10G>T
|
rs2146024963
|
|
NM_006440.5(TXNRD2):c.662+14G>T
|
|
|
NM_006440.5(TXNRD2):c.662+6G>A
|
rs887858049
|
|
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.663-3C>T
|
rs778588418
|
|
NM_006440.5(TXNRD2):c.663-5A>G
|
|
|
NM_006440.5(TXNRD2):c.663-7C>T
|
rs753045205
|
|
NM_006440.5(TXNRD2):c.670G>T (p.Val224Phe)
|
|
|
NM_006440.5(TXNRD2):c.677C>T (p.Ala226Val)
|
|
|
NM_006440.5(TXNRD2):c.682+13dup
|
|
|
NM_006440.5(TXNRD2):c.682+16G>A
|
rs377147143
|
|
NM_006440.5(TXNRD2):c.682+5C>G
|
|
|
NM_006440.5(TXNRD2):c.682+6C>A
|
|
|
NM_006440.5(TXNRD2):c.682+9T>G
|
rs2145979515
|
|
NM_006440.5(TXNRD2):c.683-16A>C
|
rs2145976926
|
|
NM_006440.5(TXNRD2):c.68C>A (p.Ala23Glu)
|
rs532340383
|
|
NM_006440.5(TXNRD2):c.692T>C (p.Leu231Pro)
|
|
|
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.704G>C (p.Gly235Ala)
|
rs1259831281
|
|
NM_006440.5(TXNRD2):c.70_76dup (p.Val26fs)
|
|
|
NM_006440.5(TXNRD2):c.722G>A (p.Gly241Glu)
|
|
|
NM_006440.5(TXNRD2):c.72C>T (p.Gly24=)
|
|
|
NM_006440.5(TXNRD2):c.737T>C (p.Ile246Thr)
|
|
|
NM_006440.5(TXNRD2):c.751A>G (p.Ile251Val)
|
|
|
NM_006440.5(TXNRD2):c.754C>G (p.Pro252Ala)
|
|
|
NM_006440.5(TXNRD2):c.763G>C (p.Gly255Arg)
|
rs76079250
|
|
NM_006440.5(TXNRD2):c.769G>A (p.Asp257Asn)
|
|
|
NM_006440.5(TXNRD2):c.774+16C>T
|
|
|
NM_006440.5(TXNRD2):c.774+6G>T
|
|
|
NM_006440.5(TXNRD2):c.775-1G>A
|
rs2145970512
|
|
NM_006440.5(TXNRD2):c.77T>C (p.Val26Ala)
|
rs925920723
|
|
NM_006440.5(TXNRD2):c.77_83dup (p.Ala30fs)
|
rs1162449700
|
|
NM_006440.5(TXNRD2):c.783C>T (p.Ser261=)
|
rs2145970463
|
|
NM_006440.5(TXNRD2):c.789G>A (p.Met263Ile)
|
rs1939469611
|
|
NM_006440.5(TXNRD2):c.812A>G (p.His271Arg)
|
|
|
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.839C>T (p.Ala280Val)
|
rs2145970224
|
|
NM_006440.5(TXNRD2):c.83G>T (p.Gly28Val)
|
|
|
NM_006440.5(TXNRD2):c.840C>A (p.Ala280=)
|
rs1416399071
|
|
NM_006440.5(TXNRD2):c.848G>A (p.Arg283Gln)
|
|
|
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.87_98del (p.27RGAA[1])
|
rs766448975
|
|
NM_006440.5(TXNRD2):c.87_98dup (p.27RGAA[3])
|
rs766448975
|
|
NM_006440.5(TXNRD2):c.895A>C (p.Ser299Arg)
|
rs5992495
|
|
NM_006440.5(TXNRD2):c.8C>T (p.Ala3Val)
|
|
|
NM_006440.5(TXNRD2):c.903C>A (p.Thr301=)
|
rs35695986
|
|
NM_006440.5(TXNRD2):c.903C>T (p.Thr301=)
|
rs35695986
|
|
NM_006440.5(TXNRD2):c.90_101dup (p.27_30RGAA[3])
|
rs1008629337
|
|
NM_006440.5(TXNRD2):c.917C>G (p.Thr306Arg)
|
|
|
NM_006440.5(TXNRD2):c.92G>C (p.Arg31Pro)
|
|
|
NM_006440.5(TXNRD2):c.934G>A (p.Val312Ile)
|
|
|
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.955G>A (p.Val319Ile)
|
|
|
NM_006440.5(TXNRD2):c.957C>T (p.Val319=)
|
|
|
NM_006440.5(TXNRD2):c.958C>T (p.Pro320Ser)
|
rs1938879786
|
|
NM_006440.5(TXNRD2):c.965C>G (p.Thr322Ser)
|
rs752178604
|
|
NM_006440.5(TXNRD2):c.967A>G (p.Arg323Gly)
|
|
|
NM_006440.5(TXNRD2):c.974T>C (p.Leu325Pro)
|
rs759476139
|
|
NM_006440.5(TXNRD2):c.987G>A (p.Lys329=)
|
rs1454322676
|
|
NM_006663.4(PPP1R13L):c.1537del (p.Val513fs)
|
rs34338233
|
|
NM_006663.4(PPP1R13L):c.1610del (p.Pro537fs)
|
rs1972986097
|
|
NM_006663.4(PPP1R13L):c.2167A>C (p.Thr723Pro)
|
rs1972850689
|
|
NM_006663.4(PPP1R13L):c.2396G>C (p.Trp799Ser)
|
rs748300482
|
|
NM_006663.4(PPP1R13L):c.2486_2487delinsTC (p.Ter829Phe)
|
rs1972735240
|
|
NM_006663.4(PPP1R13L):c.736_764del (p.Pro246fs)
|
rs1973093514
|
|
NM_006767.4(LZTR1):c.385A>G (p.Ser129Gly)
|
|
|
NM_007271.4(STK38):c.222dup (p.Glu75fs)
|
rs1582441467
|
|
NM_013266.4(CTNNA3):c.2053A>G (p.Ser685Gly)
|
rs199697536
|
|
NM_013266.4(CTNNA3):c.242C>T (p.Thr81Ile)
|
rs730880070
|
|
NM_013266.4(CTNNA3):c.2430del (p.Ala811fs)
|
rs869025379
|
|
NM_013266.4(CTNNA3):c.2571del (p.Pro857_Leu858insTer)
|
rs587782935
|
|
NM_014000.3(VCL):c.1157A>G (p.Lys386Arg)
|
rs200342284
|
|
NM_014000.3(VCL):c.1382C>A (p.Ala461Asp)
|
rs886038800
|
|
NM_014000.3(VCL):c.1544-2A>G
|
rs727503738
|
|
NM_014000.3(VCL):c.1762C>T (p.Gln588Ter)
|
rs727504381
|
|
NM_014000.3(VCL):c.1973T>C (p.Val658Ala)
|
rs372691803
|
|
NM_014000.3(VCL):c.2035G>T (p.Ala679Ser)
|
rs375392559
|
|
NM_014000.3(VCL):c.2862_2864del (p.Leu955del)
|
rs397517237
|
|
NM_014000.3(VCL):c.2882C>A (p.Pro961Gln)
|
rs754591130
|
|
NM_014391.2(ANKRD1):c.-131C>G
|
rs538475043
|
|
NM_014391.3(ANKRD1):c.*286C>T
|
rs886047479
|
|
NM_014391.3(ANKRD1):c.*371T>G
|
rs531523887
|
|
NM_014391.3(ANKRD1):c.*607C>A
|
rs146219881
|
|
NM_014391.3(ANKRD1):c.*634G>A
|
rs1301081047
|
|
NM_014391.3(ANKRD1):c.196C>G (p.Arg66Gly)
|
rs397517249
|
|
NM_014391.3(ANKRD1):c.222dup (p.Leu75fs)
|
rs776659587
|
|
NM_014391.3(ANKRD1):c.346-15_346-14del
|
rs794728971
|
|
NM_014391.3(ANKRD1):c.37_93dup (p.Lys13_Gly31dup)
|
rs1564575040
|
|
NM_014391.3(ANKRD1):c.437C>T (p.Pro146Leu)
|
rs1181799982
|
|
NM_014391.3(ANKRD1):c.55G>C (p.Glu19Gln)
|
rs886047480
|
|
NM_014391.3(ANKRD1):c.677C>T (p.Ala226Val)
|
rs730880050
|
|
NM_014391.3(ANKRD1):c.798G>C (p.Lys266Asn)
|
rs1847359872
|
|
NM_014423.4(AFF4):c.2324G>C (p.Arg775Pro)
|
|
|
NM_014908.4(DOLK):c.374C>A (p.Ser125Ter)
|
rs1841682105
|
|
NM_015978.3(TNNI3K):c.731G>T (p.Arg244Leu)
|
|
|
NM_015978.3(TNNI3K):c.736G>C (p.Gly246Arg)
|
|
|
NM_016203.4(PRKAG2):c.1681G>C (p.Ala561Pro)
|
rs61744760
|
|
NM_017636.4(TRPM4):c.337C>T (p.Arg113Cys)
|
|
|
NM_019884.3(GSK3A):c.146G>C (p.Gly49Ala)
|
rs1131690798
|
|
NM_020297.4(ABCC9):c.3284G>A (p.Arg1095His)
|
rs869025347
|
|
NM_020297.4(ABCC9):c.4450-5del
|
rs4148680
|
|
NM_020297.4(ABCC9):c.4512+744_4512+746delinsAAAT
|
rs869025349
|
|
NM_020297.4(ABCC9):c.4637G>T (p.Arg1546Leu)
|
rs773377070
|
|
NM_020297.4(ABCC9):c.588C>G (p.Phe196Leu)
|
rs1948583041
|
|
NM_020433.5(JPH2):c.1227C>G (p.Asn409Lys)
|
rs869025441
|
|
NM_020433.5(JPH2):c.479G>A (p.Arg160His)
|
|
|
NM_020433.5(JPH2):c.598T>G (p.Phe200Val)
|
|
|
NM_022114.4(PRDM16):c.1788C>G (p.Ser596Arg)
|
rs766972389
|
|
NM_024301.5(FKRP):c.128C>G (p.Ser43Cys)
|
rs1555738085
|
|
NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu)
|
rs63750743
|
|
NM_024422.6(DSC2):c.1035T>G (p.Ile345Met)
|
rs1255214987
|
|
NM_024422.6(DSC2):c.2012_2013delinsCT (p.Cys671Ser)
|
rs869025387
|
|
NM_024422.6(DSC2):c.448G>A (p.Gly150Ser)
|
|
|
NM_032578.4(MYPN):c.1600+4A>G
|
rs1589577356
|
|
NM_032578.4(MYPN):c.3271C>T (p.Arg1091Trp)
|
rs754707304
|
|
NM_032578.4(MYPN):c.3335C>A (p.Pro1112His)
|
rs71534278
|
|
NM_032578.4(MYPN):c.3808C>G (p.Gln1270Glu)
|
rs730880169
|
|
NM_133378.4(TTN):c.10361-1262dup
|
rs876657673
|
|
NM_133378.4(TTN):c.41592_41611del (p.Val13865fs)
|
rs727504825
|
|
NM_133379.5(TTN):c.10443del (p.Lys3481fs)
|
rs869312096
|
|
NM_133379.5(TTN):c.13410dup (p.Gly4471fs)
|
rs768458450
|
|
NM_133379.5(TTN):c.13479del (p.Ala4494fs)
|
|
|
NM_133379.5(TTN):c.13660dup (p.Ile4554fs)
|
rs771985828
|
|
NM_133379.5(TTN):c.13705G>T (p.Glu4569Ter)
|
rs372994805
|
|
NM_133379.5(TTN):c.14460_14470dup (p.Arg4824fs)
|
rs869312088
|
|
NM_133379.5(TTN):c.15305del (p.Thr5102fs)
|
rs869312097
|
|
NM_144573.4(NEXN):c.1175G>A (p.Arg392Gln)
|
rs971313210
|
|
NM_144573.4(NEXN):c.1238A>G (p.Gln413Arg)
|
rs1650473441
|
|
NM_144573.4(NEXN):c.1573GAA[3] (p.Glu528del)
|
rs764505909
|
|
NM_144573.4(NEXN):c.1630del (p.Gln544fs)
|
rs730880172
|
|
NM_145046.5(CALR3):c.1067G>T (p.Arg356Leu)
|
rs140290452
|
|
NM_145331.3(MAP3K7):c.795TTG[1] (p.Cys266del)
|
rs2127974453
|
|
NM_152879.3(DGKD):c.541C>T (p.Arg181Cys)
|
|
|
NM_170707.4(LMNA):c.1086del (p.Leu363fs)
|
rs58389804
|
|
NM_170707.4(LMNA):c.1106T>C (p.Leu369Pro)
|
rs397517886
|
|
NM_170707.4(LMNA):c.1111_1125del (p.Met371_Ala375del)
|
rs397517887
|
|
NM_170707.4(LMNA):c.1112_1115dup (p.Glu372fs)
|
rs397517888
|
|
NM_170707.4(LMNA):c.1294C>T (p.Gln432Ter)
|
rs267607618
|
|
NM_170707.4(LMNA):c.1300_1307del (p.His433_Ala434insTer)
|
rs267607577
|
|
NM_170707.4(LMNA):c.1304_1307dup (p.Ser437fs)
|
rs267607577
|
|
NM_170707.4(LMNA):c.1526dup (p.Thr510fs)
|
rs58013325
|
|
NM_170707.4(LMNA):c.154C>G (p.Leu52Val)
|
rs397517895
|
|
NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro)
|
rs57520892
|
|
NM_170707.4(LMNA):c.1609-1G>A
|
rs111569862
|
|
NM_170707.4(LMNA):c.1609-3C>G
|
rs267607581
|
|
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys)
|
rs56984562
|
|
NM_170707.4(LMNA):c.1622G>A (p.Arg541His)
|
rs61444459
|
|
NM_170707.4(LMNA):c.16C>T (p.Gln6Ter)
|
rs61046466
|
|
NM_170707.4(LMNA):c.244G>A (p.Glu82Lys)
|
rs59270054
|
|
NM_170707.4(LMNA):c.250G>A (p.Glu84Lys)
|
rs794728602
|
|
NM_170707.4(LMNA):c.263C>G (p.Ala88Gly)
|
rs869025455
|
|
NM_170707.4(LMNA):c.348dup (p.Lys117fs)
|
rs267607646
|
|
NM_170707.4(LMNA):c.364AAG[1] (p.Lys123del)
|
rs794728597
|
|
NM_170707.4(LMNA):c.448A>C (p.Thr150Pro)
|
rs58917027
|
|
NM_170707.4(LMNA):c.476del (p.Glu159fs)
|
rs876657650
|
|
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys)
|
rs28933093
|
|
NM_170707.4(LMNA):c.485T>C (p.Leu162Pro)
|
rs267607594
|
|
NM_170707.4(LMNA):c.513+1G>C
|
rs397517904
|
|
NM_170707.4(LMNA):c.555_556del (p.Asp185fs)
|
rs1572358674
|
|
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln)
|
rs267607571
|
|
NM_170707.4(LMNA):c.585C>G (p.Asn195Lys)
|
rs28933091
|
|
NM_170707.4(LMNA):c.589_593delinsACTTGAAG (p.Leu197_Gln198delinsThrTer)
|
rs1572358821
|
|
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys)
|
rs61195471
|
|
NM_170707.4(LMNA):c.608A>G (p.Glu203Gly)
|
rs28933092
|
|
NM_170707.4(LMNA):c.661C>T (p.Arg221Cys)
|
rs869025457
|
|
NM_170707.4(LMNA):c.700C>T (p.Gln234Ter)
|
rs267607573
|
|
NM_170707.4(LMNA):c.710T>C (p.Phe237Ser)
|
rs730880132
|
|
NM_170707.4(LMNA):c.711_729delinsCC (p.Glu238fs)
|
rs1572359848
|
|
NM_170707.4(LMNA):c.763del (p.Gln255fs)
|
rs397517908
|
|
NM_170707.4(LMNA):c.778AAG[1] (p.Lys261del)
|
rs58978449
|
|
NM_170707.4(LMNA):c.784G>T (p.Glu262Ter)
|
rs397517909
|
|
NM_170707.4(LMNA):c.799T>C (p.Tyr267His)
|
rs267607593
|
|
NM_170707.4(LMNA):c.859del (p.Ala287fs)
|
rs59564495
|
|
NM_170707.4(LMNA):c.863C>G (p.Ala288Gly)
|
rs397517911
|
|
NM_170707.4(LMNA):c.937-8C>G
|
rs751707982
|
|
NM_170707.4(LMNA):c.958del (p.Leu320fs)
|
rs397517915
|
|
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter)
|
rs267607554
|
|
NM_172201.2(KCNE2):c.285G>T (p.Lys95Asn)
|
rs1555837113
|
|
NM_174934.4(SCN4B):c.271C>A (p.Pro91Thr)
|
rs113659925
|
|
NM_181486.4(TBX5):c.652C>T (p.Gln218Ter)
|
rs2136410724
|
|
NM_182914.3(SYNE2):c.14407del (p.Ser4803fs)
|
rs869025529
|
|
NM_182961.4(SYNE1):c.14895_14896del (p.His4965fs)
|
rs730880219
|
|
NM_198060.4(NRAP):c.3703-1G>T
|
|
|
NM_213569.2(NEBL):c.357+73449dup
|
rs57918610
|
|
NM_213569.2(NEBL):c.357+73457del
|
rs57918610
|
|
NM_213569.2(NEBL):c.358-4751_358-4740del
|
rs2130816665
|
|