|
NM_004415.4(DSP):c.741= (p.Ala247=)
|
rs2806234
|
0.99917
|
|
NM_001035.3(RYR2):c.10935+18C>T
|
rs2797445
|
0.98361
|
|
NM_001035.3(RYR2):c.6906T>C (p.Leu2302=)
|
rs707189
|
0.96110
|
|
NM_001035.3(RYR2):c.10776C>T (p.Ser3592=)
|
rs2685301
|
0.95962
|
|
NM_001035.3(RYR2):c.10503C>T (p.Thr3501=)
|
rs2797441
|
0.95950
|
|
NM_001035.3(RYR2):c.3423+49A>G
|
rs2805390
|
0.90629
|
|
NM_001035.3(RYR2):c.2973A>G (p.Ser991=)
|
rs2253273
|
0.84980
|
|
NM_006073.4(TRDN):c.601C>G (p.Leu201Val)
|
rs6902416
|
0.84721
|
|
NM_002230.4(JUP):c.909+17T>C
|
rs12942034
|
0.81403
|
|
NM_002230.4(JUP):c.213T>C (p.Asp71=)
|
rs7405731
|
0.77675
|
|
NM_002230.4(JUP):c.2046+22A>G
|
rs7216034
|
0.77249
|
|
NM_004415.4(DSP):c.2091A>G (p.Gly697=)
|
rs2076304
|
0.76849
|
|
NM_004415.4(DSP):c.2631G>A (p.Arg877=)
|
rs1016835
|
0.74603
|
|
NM_001005242.3(PKP2):c.2013+45G>A
|
rs10772008
|
0.73962
|
|
NM_001035.3(RYR2):c.11326-23C>T
|
rs2253831
|
0.73062
|
|
NM_001035.3(RYR2):c.2718+26A>G
|
rs2618702
|
0.71570
|
|
NM_001232.4(CASQ2):c.420+6T>C
|
rs9428083
|
0.71176
|
|
NM_002230.4(JUP):c.1774-34C>A
|
rs8067890
|
0.71145
|
|
NM_002230.4(JUP):c.*225T>C
|
rs4627408
|
0.70932
|
|
NM_004415.4(DSP):c.8472G>C (p.Gly2824=)
|
rs2744380
|
0.68624
|
|
NM_001035.3(RYR2):c.13783-6A>G
|
rs790901
|
0.66919
|
|
NM_002230.4(JUP):c.2089A>T (p.Met697Leu)
|
rs1126821
|
0.66611
|
|
NM_001035.3(RYR2):c.13913+12A>C
|
rs790900
|
0.66578
|
|
NM_002230.4(JUP):c.-88A>G
|
rs4796702
|
0.65910
|
|
NM_024334.3(TMEM43):c.*115T>C
|
rs1043943
|
0.65275
|
|
NM_004628.5(XPC):c.2815C>A (p.Gln939Lys)
|
rs2228001
|
0.64910
|
|
NM_001035.3(RYR2):c.13783-21G>A
|
rs790902
|
0.64306
|
|
NM_001005242.3(PKP2):c.*1431G>A
|
rs1046150
|
0.62602
|
|
NM_001005242.3(PKP2):c.*1196G>A
|
rs1046138
|
0.61624
|
|
NM_001005242.3(PKP2):c.*251C>G
|
rs12612
|
0.61058
|
|
NM_001035.3(RYR2):c.13476+16A>G
|
rs2256242
|
0.60593
|
|
NM_006073.4(TRDN):c.484+1457C>T
|
rs9490795
|
0.56990
|
|
NM_001035.3(RYR2):c.677-11T>A
|
rs10754602
|
0.53281
|
|
NM_001035.3(RYR2):c.1359C>T (p.Ser453=)
|
rs3765097
|
0.51474
|
|
NM_001005242.3(PKP2):c.*812C>T
|
rs9394
|
0.50975
|
|
NM_001943.5(DSG2):c.861C>T (p.Asn287=)
|
rs2230233
|
0.50779
|
|
NM_006073.4(TRDN):c.383C>G (p.Thr128Ser)
|
rs9490809
|
0.50546
|
|
NM_004572.3(PKP2):c.-116C>T
|
rs187291890
|
0.48955
|
|
NM_013266.4(CTNNA3):c.1281+18601C>T
|
rs6480209
|
0.48391
|
|
NM_001035.3(RYR2):c.1612+14T>C
|
rs2045955
|
0.48321
|
|
NM_001943.5(DSG2):c.*1866T>C
|
rs1047433
|
0.48313
|
|
NM_001943.5(DSG2):c.3321T>C (p.Val1107=)
|
rs1791235
|
0.48308
|
|
NM_001035.3(RYR2):c.7806C>T (p.His2602=)
|
rs684923
|
0.47802
|
|
NM_013266.4(CTNNA3):c.1787G>A (p.Ser596Asn)
|
rs4548513
|
0.47526
|
|
NM_013266.4(CTNNA3):c.292+13A>G
|
rs3750863
|
0.45524
|
|
NM_006073.4(TRDN):c.2051-19G>A
|
rs7754205
|
0.42872
|
|
NM_001035.3(RYR2):c.6556-41G>A
|
rs10802626
|
0.39733
|
|
NM_001232.4(CASQ2):c.1185C>T (p.Asp395=)
|
rs7413162
|
0.39681
|
|
NM_001035.3(RYR2):c.14091-25G>A
|
rs9428384
|
0.37110
|
|
NM_001035.3(RYR2):c.11963-11T>C
|
rs790889
|
0.35417
|
|
NM_006073.4(TRDN):c.1188A>G (p.Lys396=)
|
rs6901953
|
0.35392
|
|
NM_024334.3(TMEM43):c.536T>C (p.Met179Thr)
|
rs2340917
|
0.35127
|
|
NM_001035.3(RYR2):c.13476+47G>A
|
rs16835818
|
0.34821
|
|
NM_001232.4(CASQ2):c.196A>G (p.Thr66Ala)
|
rs4074536
|
0.34486
|
|
NM_001035.3(RYR2):c.464-8A>C
|
rs10925391
|
0.33866
|
|
NM_006073.4(TRDN):c.1186+16C>T
|
rs3813328
|
0.33405
|
|
NM_013266.4(CTNNA3):c.2266-10T>G
|
rs2105702
|
0.32828
|
|
NM_024334.3(TMEM43):c.504A>T (p.Lys168Asn)
|
rs4685076
|
0.29043
|
|
NM_004415.4(DSP):c.7122C>T (p.Thr2374=)
|
rs2076300
|
0.28306
|
|
NM_001035.3(RYR2):c.*1140A>G
|
rs12594
|
0.28188
|
|
NM_004415.4(DSP):c.2862C>T (p.Cys954=)
|
rs2064217
|
0.27166
|
|
NM_004415.4(DSP):c.*197C>T
|
rs12250
|
0.26572
|
|
NM_004415.4(DSP):c.2091= (p.Gly697=)
|
rs2076304
|
0.23152
|
|
NM_004628.5(XPC):c.*96C>G
|
rs2229090
|
0.22357
|
|
NM_001943.5(DSG2):c.828+16C>A
|
rs3737378
|
0.22345
|
|
NM_001943.5(DSG2):c.2318G>A (p.Arg773Lys)
|
rs2278792
|
0.22185
|
|
NM_001943.5(DSG2):c.*565A>G
|
rs11542765
|
0.21489
|
|
NM_001035.3(RYR2):c.8873A>G (p.Gln2958Arg)
|
rs34967813
|
0.20632
|
|
NM_013266.4(CTNNA3):c.293-19A>T
|
rs1909654
|
0.20576
|
|
NM_001005242.3(PKP2):c.1097T>C (p.Leu366Pro)
|
rs1046116
|
0.20181
|
|
NM_001005242.3(PKP2):c.2357+13_2357+14insC
|
rs149968852
|
0.19813
|
|
NM_004415.4(DSP):c.5213G>A (p.Arg1738Gln)
|
rs6929069
|
0.19612
|
|
NM_024334.3(TMEM43):c.*779A>C
|
rs13069
|
0.19544
|
|
NM_024334.3(TMEM43):c.*1424T>C
|
rs10468
|
0.19535
|
|
NM_024422.6(DSC2):c.2326A>G (p.Ile776Val)
|
rs1893963
|
0.18480
|
|
NM_001943.5(DSG2):c.2505A>G (p.Thr835=)
|
rs1042769
|
0.18278
|
|
NM_001005242.3(PKP2):c.2168-21del
|
rs57690055
|
0.18222
|
|
NM_004415.4(DSP):c.1dup (p.Met1fs)
|
rs17133512
|
0.17362
|
|
NM_006073.4(TRDN):c.1257C>A (p.Asp419Glu)
|
rs17737379
|
0.17356
|
|
NM_006073.4(TRDN):c.1370-11C>A
|
rs9401658
|
0.16989
|
|
NM_004628.5(XPC):c.*618A>G
|
rs2470458
|
0.16965
|
|
NM_024334.3(TMEM43):c.*1374T>C
|
rs8516
|
0.16859
|
|
NM_006073.4(TRDN):c.1211T>G (p.Val404Gly)
|
rs28494009
|
0.16504
|
|
NM_001035.3(RYR2):c.*1307C>T
|
rs16835904
|
0.16356
|
|
NM_024334.3(TMEM43):c.883-47C>T
|
rs2731320
|
0.16071
|
|
NM_024334.3(TMEM43):c.*463A>G
|
rs1043953
|
0.15711
|
|
NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys)
|
rs2076299
|
0.13777
|
|
NM_001943.5(DSG2):c.*1339G>A
|
rs9304101
|
0.13688
|
|
NM_013266.4(CTNNA3):c.579+15T>G
|
rs10997691
|
0.12289
|
|
NM_024422.6(DSC2):c.111A>G (p.Leu37=)
|
rs12954874
|
0.10312
|
|
NM_001035.3(RYR2):c.849-8T>C
|
rs16835237
|
0.09863
|
|
NM_024422.6(DSC2):c.*579T>C
|
rs59914360
|
0.09730
|
|
NM_006073.4(TRDN):c.1408C>A (p.Leu470Met)
|
rs6569336
|
0.09024
|
|
NM_024422.6(DSC2):c.32A>G (p.Asn11Ser)
|
rs868333
|
0.08191
|
|
NM_004415.4(DSP):c.126T>C (p.Tyr42=)
|
rs36087964
|
0.06956
|
|
NM_001005242.3(PKP2):c.2167+7C>T
|
rs74072938
|
0.06473
|
|
NM_001035.3(RYR2):c.5656G>A (p.Gly1886Ser)
|
rs3766871
|
0.06110
|
|
NM_001035.3(RYR2):c.1611G>A (p.Leu537=)
|
rs78281932
|
0.05734
|
|
NM_001035.3(RYR2):c.4684-11C>T
|
rs7546045
|
0.05719
|
|
NM_013266.4(CTNNA3):c.460-13T>C
|
rs7903421
|
0.05538
|
|
NM_024334.3(TMEM43):c.*719G>T
|
rs3796308
|
0.05531
|
|
NM_001943.5(DSG2):c.2137G>A (p.Glu713Lys)
|
rs79241126
|
0.05477
|
|
NM_001005242.3(PKP2):c.*1271G>C
|
rs12314796
|
0.05196
|
|
NM_001005242.3(PKP2):c.*1563G>T
|
rs1046154
|
0.05190
|
|
NM_001232.4(CASQ2):c.1194T>C (p.Asp398=)
|
rs28730711
|
0.04871
|
|
NM_004415.4(DSP):c.4578C>A (p.Asn1526Lys)
|
rs28763966
|
0.04717
|
|
NM_003239.5(TGFB3):c.-614C>T
|
rs11466414
|
0.04715
|
|
NM_002230.4(JUP):c.1653+10C>A
|
rs73983658
|
0.04634
|
|
NM_013266.4(CTNNA3):c.1872C>A (p.Val624=)
|
rs10997034
|
0.04630
|
|
NM_004415.4(DSP):c.8175C>A (p.Arg2725=)
|
rs11558731
|
0.04375
|
|
NM_024334.3(TMEM43):c.*312A>C
|
rs11920099
|
0.04223
|
|
NM_002230.4(JUP):c.425G>A (p.Arg142His)
|
rs41283425
|
0.03910
|
|
NM_013266.4(CTNNA3):c.1531+16T>C
|
rs78806593
|
0.03870
|
|
NM_001035.3(RYR2):c.13564-41A>G
|
rs114289907
|
0.03849
|
|
NM_001035.3(RYR2):c.*647C>T
|
rs16835894
|
0.03547
|
|
NM_001035.3(RYR2):c.5400A>G (p.Lys1800=)
|
rs3820216
|
0.03524
|
|
NM_002230.4(JUP):c.405C>T (p.Asp135=)
|
rs17850807
|
0.03356
|
|
NM_002230.4(JUP):c.*709G>C
|
rs56339743
|
0.03348
|
|
NM_002230.4(JUP):c.*286C>T
|
rs73983656
|
0.03337
|
|
NM_006073.4(TRDN):c.1805-6C>T
|
rs201544606
|
0.03259
|
|
NM_006073.4(TRDN):c.1105+5G>A
|
rs41284430
|
0.03253
|
|
NM_024334.3(TMEM43):c.*277C>T
|
rs11943
|
0.03059
|
|
NM_004415.4(DSP):c.423-16_423-15insC
|
rs113028223
|
0.03015
|
|
NM_001035.3(RYR2):c.1776A>T (p.Gly592=)
|
rs72549414
|
0.02926
|
|
NM_001005242.3(PKP2):c.-22C>G
|
rs373925978
|
0.02916
|
|
NM_013266.4(CTNNA3):c.843+17A>G
|
rs77409659
|
0.02787
|
|
NM_004415.4(DSP):c.913A>T (p.Ile305Phe)
|
rs17604693
|
0.02655
|
|
NM_004415.4(DSP):c.1903+7T>C
|
rs28763962
|
0.02605
|
|
NM_024334.3(TMEM43):c.163-14C>T
|
rs113745859
|
0.02553
|
|
NM_001035.3(RYR2):c.8437-7dup
|
rs148246251
|
0.02544
|
|
NM_024334.3(TMEM43):c.*924T>C
|
rs79741000
|
0.02523
|
|
NM_024334.3(TMEM43):c.*217G>A
|
rs116757981
|
0.02517
|
|
NM_001232.4(CASQ2):c.731A>G (p.His244Arg)
|
rs28730716
|
0.02511
|
|
NM_004415.4(DSP):c.273+10C>T
|
rs56148603
|
0.02451
|
|
NM_006073.4(TRDN):c.1805-5dup
|
rs755375052
|
0.02440
|
|
NM_013266.4(CTNNA3):c.1655C>T (p.Thr552Met)
|
rs61737718
|
0.02389
|
|
NM_001035.3(RYR2):c.9449+8T>A
|
rs60777199
|
0.02348
|
|
NM_001943.5(DSG2):c.524-9T>A
|
rs11876289
|
0.02255
|
|
NM_013266.4(CTNNA3):c.393G>A (p.Ala131=)
|
rs80182543
|
0.02215
|
|
NM_001232.4(CASQ2):c.1014+9C>T
|
rs77775029
|
0.02121
|
|
NM_001232.4(CASQ2):c.1005T>C (p.Asn335=)
|
rs28730712
|
0.02116
|
|
NM_024334.3(TMEM43):c.909C>T (p.Ser303=)
|
rs35100587
|
0.02012
|
|
NM_001035.3(RYR2):c.11557+19C>T
|
rs113408406
|
0.01994
|
|
NM_013266.4(CTNNA3):c.478T>A (p.Ser160Thr)
|
rs61749223
|
0.01916
|
|
NM_001005242.3(PKP2):c.209G>T (p.Ser70Ile)
|
rs75909145
|
0.01900
|
|
NM_001035.3(RYR2):c.*56C>A
|
rs74703306
|
0.01808
|
|
NM_001035.3(RYR2):c.*328C>T
|
rs76286925
|
0.01804
|
|
NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu)
|
rs41315858
|
0.01767
|
|
NM_004415.4(DSP):c.*276_*278del
|
rs144440643
|
0.01744
|
|
NM_001035.3(RYR2):c.14421C>T (p.Asp4807=)
|
rs75206601
|
0.01733
|
|
NM_024422.6(DSC2):c.*1096T>C
|
rs74749519
|
0.01657
|
|
NM_002230.4(JUP):c.*669C>T
|
rs8074883
|
0.01622
|
|
NM_002230.4(JUP):c.867C>T (p.Thr289=)
|
rs2230407
|
0.01591
|
|
NM_006073.4(TRDN):c.1620A>G (p.Ile540Met)
|
rs7771303
|
0.01556
|
|
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly)
|
rs56229512
|
0.01531
|
|
NM_002230.4(JUP):c.*853C>T
|
rs55919561
|
0.01530
|
|
NM_013266.4(CTNNA3):c.348A>C (p.Pro116=)
|
rs61749224
|
0.01511
|
|
NM_001035.3(RYR2):c.1519G>A (p.Val507Ile)
|
rs16835270
|
0.01462
|
|
NM_002230.4(JUP):c.*623G>A
|
rs55634776
|
0.01451
|
|
NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp)
|
rs11570076
|
0.01409
|
|
NM_004415.4(DSP):c.4773G>A (p.Arg1591=)
|
rs28763968
|
0.01341
|
|
NM_001035.3(RYR2):c.6928+4G>A
|
rs79862521
|
0.01335
|
|
NM_001035.3(RYR2):c.4684-5G>C
|
rs7522981
|
0.01334
|
|
NM_003239.5(TGFB3):c.-543T>A
|
rs74448762
|
0.01331
|
|
NM_001035.3(RYR2):c.11988C>T (p.Gly3996=)
|
rs56226196
|
0.01290
|
|
NM_001232.4(CASQ2):c.226G>A (p.Val76Met)
|
rs10801999
|
0.01289
|
|
NM_006073.4(TRDN):c.1096G>A (p.Ala366Thr)
|
rs35047281
|
0.01253
|
|
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser)
|
rs80325569
|
0.01244
|
|
NM_001943.5(DSG2):c.217-5G>T
|
rs80073511
|
0.01232
|
|
NM_006073.4(TRDN):c.1016G>A (p.Ser339Asn)
|
rs35766971
|
0.01214
|
|
NM_024422.6(DSC2):c.-298C>T
|
rs149977713
|
0.01170
|
|
NM_004415.4(DSP):c.3963G>A (p.Gln1321=)
|
rs61731476
|
0.01161
|
|
NM_001035.3(RYR2):c.*1160A>G
|
rs114925843
|
0.01131
|
|
NM_024422.6(DSC2):c.*1604A>G
|
rs188072930
|
0.01130
|
|
NM_001035.3(RYR2):c.10230+20T>C
|
rs74323916
|
0.01122
|
|
NM_024334.3(TMEM43):c.*1160A>G
|
rs9842062
|
0.01099
|
|
NM_001943.5(DSG2):c.3243C>T (p.Val1081=)
|
rs11542379
|
0.01097
|
|
NM_001035.3(RYR2):c.6440+20C>T
|
rs115755128
|
0.01092
|
|
NM_004628.5(XPC):c.*192T>C
|
rs3731178
|
0.01085
|
|
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp)
|
rs113449357
|
0.01077
|
|
NM_013266.4(CTNNA3):c.1603C>T (p.Arg535Cys)
|
rs41274090
|
0.01060
|
|
NM_001035.3(RYR2):c.11880+13_11880+16del
|
rs199562036
|
0.01032
|
|
NM_001035.3(RYR2):c.2397-6C>T
|
rs78165942
|
0.01029
|
|
NM_004415.4(DSP):c.3510G>A (p.Glu1170=)
|
rs28763964
|
0.01023
|
|
NM_001005242.3(PKP2):c.791C>T (p.Ala264Val)
|
rs62001016
|
0.01013
|
|
NM_001035.3(RYR2):c.*787C>A
|
rs143228973
|
0.00997
|
|
NM_001035.3(RYR2):c.13977G>A (p.Glu4659=)
|
rs78369334
|
0.00989
|
|
NM_001035.3(RYR2):c.2204-7C>G
|
rs147479514
|
0.00944
|
|
NM_004415.4(DSP):c.6390T>C (p.Ala2130=)
|
rs28763969
|
0.00940
|
|
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys)
|
rs28763967
|
0.00925
|
|
NM_001943.5(DSG2):c.1543G>A (p.Val515Ile)
|
rs2230235
|
0.00917
|
|
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val)
|
rs78652302
|
0.00908
|
|
NM_006073.4(TRDN):c.403G>A (p.Glu135Lys)
|
rs192289289
|
0.00900
|
|
NM_001943.5(DSG2):c.*677T>C
|
rs113622947
|
0.00882
|
|
NM_024334.3(TMEM43):c.222C>T (p.Pro74=)
|
rs34099410
|
0.00841
|
|
NM_024422.6(DSC2):c.351A>G (p.Thr117=)
|
rs117812913
|
0.00832
|
|
NM_002230.4(JUP):c.2047-14C>G
|
rs116666639
|
0.00819
|
|
NM_001943.5(DSG2):c.3135A>C (p.Thr1045=)
|
rs8095704
|
0.00801
|
|
NM_001035.3(RYR2):c.11835C>T (p.Val3945=)
|
rs78939657
|
0.00787
|
|
NM_005633.4(SOS1):c.1964C>T (p.Pro655Leu)
|
rs56219475
|
0.00787
|
|
NM_013266.4(CTNNA3):c.1047C>T (p.Asn349=)
|
rs60262757
|
0.00761
|
|
NM_002230.4(JUP):c.1942G>A (p.Val648Ile)
|
rs143043662
|
0.00760
|
|
NM_001267550.2(TTN):c.34970G>A (p.Arg11657His)
|
rs59887778
|
0.00758
|
|
NM_002230.4(JUP):c.1563A>G (p.Ala521=)
|
rs149926974
|
0.00753
|
|
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val)
|
rs72549415
|
0.00737
|
|
NM_006073.4(TRDN):c.1871-15G>A
|
rs59935057
|
0.00724
|
|
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn)
|
rs143004808
|
0.00716
|
|
NM_006073.4(TRDN):c.274G>A (p.Val92Ile)
|
rs34808221
|
0.00711
|
|
NM_004415.4(DSP):c.2673T>C (p.Tyr891=)
|
rs146407262
|
0.00703
|
|
NM_004415.4(DSP):c.8300C>A (p.Thr2767Asn)
|
rs34884895
|
0.00701
|
|
NM_001035.3(RYR2):c.13260+14A>G
|
rs141528541
|
0.00700
|
|
NM_001943.5(DSG2):c.*1844A>G
|
rs16962096
|
0.00700
|
|
NM_001035.3(RYR2):c.7342+16A>G
|
rs76678214
|
0.00698
|
|
NM_001943.5(DSG2):c.2587A>C (p.Met863Leu)
|
rs16962093
|
0.00694
|
|
NM_024422.6(DSC2):c.*1283A>G
|
rs141273986
|
0.00682
|
|
NM_001005242.3(PKP2):c.*48dup
|
rs369140281
|
0.00677
|
|
NM_001005242.3(PKP2):c.174G>T (p.Glu58Asp)
|
rs146708884
|
0.00677
|
|
NM_001035.3(RYR2):c.2046A>G (p.Thr682=)
|
rs116098815
|
0.00675
|
|
NM_024334.3(TMEM43):c.698A>G (p.Tyr233Cys)
|
rs35924492
|
0.00660
|
|
NM_001035.3(RYR2):c.8448C>T (p.Asp2816=)
|
rs144876996
|
0.00659
|
|
NM_001943.5(DSG2):c.2647T>C (p.Ser883Pro)
|
rs34417028
|
0.00652
|
|
NM_006073.4(TRDN):c.1538-13T>G
|
rs55704802
|
0.00651
|
|
NM_001943.5(DSG2):c.2708C>T (p.Thr903Ile)
|
rs34065672
|
0.00649
|
|
NM_004415.4(DSP):c.*9T>A
|
rs11558732
|
0.00645
|
|
NM_001035.3(RYR2):c.576+7G>C
|
rs10925392
|
0.00643
|
|
NM_002230.4(JUP):c.*1027G>C
|
rs147905567
|
0.00640
|
|
NM_002230.4(JUP):c.*2C>T
|
rs112879398
|
0.00630
|
|
NM_024334.3(TMEM43):c.953C>T (p.Ala318Val)
|
rs11924644
|
0.00629
|
|
NM_001943.5(DSG2):c.*1385C>T
|
rs116439025
|
0.00624
|
|
NM_002230.4(JUP):c.1224C>T (p.Leu408=)
|
rs2230408
|
0.00620
|
|
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe)
|
rs28763961
|
0.00618
|
|
NM_001035.3(RYR2):c.*130G>A
|
rs12725752
|
0.00614
|
|
NM_001943.4(DSG2):c.-94G>C
|
rs149048465
|
0.00607
|
|
NM_001035.3(RYR2):c.14299-12A>G
|
rs41267519
|
0.00603
|
|
NM_024334.3(TMEM43):c.1096G>A (p.Ala366Thr)
|
rs36083134
|
0.00599
|
|
NM_001267550.2(TTN):c.90638T>C (p.Ile30213Thr)
|
rs114026724
|
0.00598
|
|
NM_001035.3(RYR2):c.10143-18A>G
|
rs3736542
|
0.00594
|
|
NM_004415.4(DSP):c.1702-18C>T
|
rs148417566
|
0.00594
|
|
NM_024422.6(DSC2):c.1719C>T (p.Asn573=)
|
rs140167653
|
0.00590
|
|
NM_004415.4(DSP):c.105G>A (p.Gly35=)
|
rs77445784
|
0.00587
|
|
NM_001005242.3(PKP2):c.*646G>A
|
rs144983891
|
0.00577
|
|
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser)
|
rs113902911
|
0.00572
|
|
NM_002230.4(JUP):c.1774-13C>T
|
rs116772523
|
0.00553
|
|
NM_024334.3(TMEM43):c.*1054_*1058del
|
rs550702296
|
0.00553
|
|
NM_001943.5(DSG2):c.473T>G (p.Val158Gly)
|
rs191143292
|
0.00550
|
|
NM_001035.3(RYR2):c.14809-15C>G
|
rs790897
|
0.00538
|
|
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp)
|
rs35028636
|
0.00535
|
|
NM_002230.4(JUP):c.*239G>A
|
rs115919416
|
0.00526
|
|
NC_000018.10:g.31103416C>G
|
rs75494355
|
0.00512
|
|
NM_002230.4(JUP):c.777C>T (p.Gly259=)
|
rs34890640
|
0.00507
|
|
NM_004415.4(DSP):c.8481C>T (p.Ser2827=)
|
rs151029175
|
0.00494
|
|
NM_001035.3(RYR2):c.1292+20C>T
|
rs182050281
|
0.00493
|
|
NM_004415.4(DSP):c.2630+18C>T
|
rs145963404
|
0.00475
|
|
NM_001005242.3(PKP2):c.*202C>T
|
rs77988382
|
0.00472
|
|
NM_001005242.3(PKP2):c.*281A>G
|
rs78540632
|
0.00463
|
|
NM_001035.3(RYR2):c.1863C>T (p.His621=)
|
rs17686573
|
0.00461
|
|
NM_006073.4(TRDN):c.1567+19T>C
|
rs182813107
|
0.00459
|
|
NM_024422.6(DSC2):c.*1658G>A
|
rs185216732
|
0.00455
|
|
NM_001035.3(RYR2):c.14029C>T (p.Leu4677=)
|
rs112864477
|
0.00446
|
|
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly)
|
rs142841727
|
0.00439
|
|
NM_006073.4(TRDN):c.1721-4A>G
|
rs60743141
|
0.00430
|
|
NM_001005242.3(PKP2):c.1116T>C (p.Ala372=)
|
rs142742483
|
0.00423
|
|
NM_013266.4(CTNNA3):c.2553G>A (p.Lys851=)
|
rs115814032
|
0.00420
|
|
NM_001005242.3(PKP2):c.1460T>G (p.Ile487Ser)
|
rs147240502
|
0.00417
|
|
NM_001035.3(RYR2):c.7365C>T (p.Asp2455=)
|
rs72549416
|
0.00413
|
|
NM_013266.4(CTNNA3):c.99+11C>T
|
rs115451937
|
0.00411
|
|
NM_024334.3(TMEM43):c.*806A>C
|
rs58476065
|
0.00408
|
|
NM_001943.5(DSG2):c.266A>G (p.Tyr89Cys)
|
rs2230232
|
0.00406
|
|
NM_001035.3(RYR2):c.7038A>C (p.Ala2346=)
|
rs116601686
|
0.00399
|
|
NM_001035.3(RYR2):c.7488C>T (p.Leu2496=)
|
rs143906555
|
0.00397
|
|
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met)
|
rs146882581
|
0.00396
|
|
NM_001232.4(CASQ2):c.*503G>A
|
rs72554068
|
0.00381
|
|
NM_017636.4(TRPM4):c.1682A>C (p.Asp561Ala)
|
rs56355369
|
0.00373
|
|
NM_001035.3(RYR2):c.13566C>T (p.Val4522=)
|
rs57360419
|
0.00366
|
|
NM_024422.6(DSC2):c.*1017C>T
|
rs191171295
|
0.00357
|
|
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe)
|
rs146181116
|
0.00343
|
|
NM_001035.3(RYR2):c.13740G>A (p.Thr4580=)
|
rs115854664
|
0.00333
|
|
NM_001134363.3(RBM20):c.3373G>A (p.Glu1125Lys)
|
rs116908219
|
0.00333
|
|
NM_001943.5(DSG2):c.*131C>T
|
rs146873880
|
0.00328
|
|
NM_201384.3(PLEC):c.5476C>T (p.Arg1826Trp)
|
rs200575795
|
0.00326
|
|
NM_013266.4(CTNNA3):c.2142G>A (p.Glu714=)
|
rs115972723
|
0.00315
|
|
NM_001035.3(RYR2):c.11476+15C>T
|
rs192323827
|
0.00312
|
|
NM_001035.3(RYR2):c.9666C>T (p.Ala3222=)
|
rs116442127
|
0.00308
|
|
NM_001035.3(RYR2):c.11880+16G>A
|
rs73103904
|
0.00306
|
|
NM_006073.4(TRDN):c.1510G>A (p.Gly504Ser)
|
rs150531306
|
0.00305
|
|
NM_001792.5(CDH2):c.885C>T (p.Asp295=)
|
rs17493618
|
0.00300
|
|
NM_004572.3(PKP2):c.-90G>T
|
rs552373947
|
0.00300
|
|
NM_001943.5(DSG2):c.*705G>A
|
rs57112788
|
0.00298
|
|
NM_024422.6(DSC2):c.*46A>T
|
rs77431927
|
0.00294
|
|
NM_001792.5(CDH2):c.702+6A>T
|
rs17493682
|
0.00293
|
|
NM_013266.4(CTNNA3):c.1587T>A (p.Asp529Glu)
|
rs74141466
|
0.00293
|
|
NM_013266.4(CTNNA3):c.1588G>T (p.Ala530Ser)
|
rs74141465
|
0.00293
|
|
NM_024422.6(DSC2):c.*1237G>A
|
rs28530723
|
0.00292
|
|
NM_024422.6(DSC2):c.1264-5C>T
|
rs183614856
|
0.00292
|
|
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn)
|
rs41302885
|
0.00290
|
|
NM_001943.5(DSG2):c.2211C>T (p.Gly737=)
|
rs74578148
|
0.00288
|
|
NM_001943.5(DSG2):c.2886T>G (p.Ile962Met)
|
rs79229040
|
0.00285
|
|
NM_001943.5(DSG2):c.2586T>C (p.Ser862=)
|
rs78310842
|
0.00284
|
|
NM_001035.3(RYR2):c.1218G>A (p.Ser406=)
|
rs147389346
|
0.00283
|
|
NM_001035.3(RYR2):c.3849A>G (p.Leu1283=)
|
rs143603583
|
0.00282
|
|
NM_001035.3(RYR2):c.9867G>A (p.Gly3289=)
|
rs190537182
|
0.00281
|
|
NM_004415.4(DSP):c.4141A>T (p.Thr1381Ser)
|
rs77758574
|
0.00270
|
|
NM_001005242.3(PKP2):c.819G>A (p.Pro273=)
|
rs3748279
|
0.00266
|
|
NM_013266.4(CTNNA3):c.1611G>A (p.Ala537=)
|
rs146900023
|
0.00266
|
|
NM_001035.3(RYR2):c.5613C>T (p.Asp1871=)
|
rs116774472
|
0.00265
|
|
NM_004415.4(DSP):c.7995G>A (p.Thr2665=)
|
rs35379048
|
0.00265
|
|
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=)
|
rs138073811
|
0.00264
|
|
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser)
|
rs72648949
|
0.00262
|
|
NM_001943.5(DSG2):c.*1674G>A
|
rs115630812
|
0.00261
|
|
NM_002230.4(JUP):c.2025T>C (p.His675=)
|
rs140670556
|
0.00259
|
|
NM_002230.4(JUP):c.1159-13C>A
|
rs201627219
|
0.00258
|
|
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile)
|
rs146102241
|
0.00255
|
|
NM_013266.4(CTNNA3):c.483C>T (p.Leu161=)
|
rs74142830
|
0.00255
|
|
NM_001035.3(RYR2):c.13983C>T (p.Tyr4661=)
|
rs138498780
|
0.00254
|
|
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe)
|
rs150821281
|
0.00252
|
|
NM_020297.4(ABCC9):c.407-14C>A
|
rs201279882
|
0.00248
|
|
NM_024422.6(DSC2):c.*1475G>C
|
rs180728052
|
0.00248
|
|
NM_001943.5(DSG2):c.1051A>G (p.Ser351Gly)
|
rs139326669
|
0.00246
|
|
NM_001232.4(CASQ2):c.198G>A (p.Thr66=)
|
rs74114618
|
0.00243
|
|
NM_001035.3(RYR2):c.4068C>T (p.Pro1356=)
|
rs199821105
|
0.00240
|
|
NM_013266.4(CTNNA3):c.1133G>A (p.Arg378His)
|
rs143682596
|
0.00240
|
|
NM_001005242.3(PKP2):c.1171-11T>C
|
rs183414126
|
0.00239
|
|
NM_001035.3(RYR2):c.6441-19C>T
|
rs140440259
|
0.00239
|
|
NM_001035.3(RYR2):c.2204-16G>T
|
rs368648602
|
0.00235
|
|
NM_001005242.3(PKP2):c.*1394A>T
|
rs112547924
|
0.00232
|
|
NM_006073.4(TRDN):c.430C>T (p.His144Tyr)
|
rs79182520
|
0.00232
|
|
NM_001005242.3(PKP2):c.2260A>G (p.Thr754Ala)
|
rs112592855
|
0.00231
|
|
NM_001005242.3(PKP2):c.939C>T (p.Ser313=)
|
rs61729381
|
0.00229
|
|
NM_001943.5(DSG2):c.*504A>G
|
rs139121154
|
0.00229
|
|
NM_001035.3(RYR2):c.6555+6G>A
|
rs372661934
|
0.00228
|
|
NM_024422.6(DSC2):c.*185A>G
|
rs147458812
|
0.00227
|
|
NM_024334.3(TMEM43):c.*8C>T
|
rs192707412
|
0.00225
|
|
NM_001005242.3(PKP2):c.*683T>C
|
rs144110140
|
0.00224
|
|
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met)
|
rs149617776
|
0.00223
|
|
NM_001035.3(RYR2):c.4989C>T (p.Ala1663=)
|
rs147060179
|
0.00220
|
|
NM_001943.5(DSG2):c.2484T>C (p.Asp828=)
|
rs201051252
|
0.00217
|
|
NM_004415.4(DSP):c.2596C>T (p.Arg866Cys)
|
rs142429411
|
0.00214
|
|
NM_002230.4(JUP):c.-96G>A
|
rs552101358
|
0.00212
|
|
NM_001035.3(RYR2):c.6555+8C>T
|
rs1759122
|
0.00211
|
|
NM_001005242.3(PKP2):c.972G>A (p.Ala324=)
|
rs142636176
|
0.00208
|
|
NM_001005242.3(PKP2):c.1379-18A>G
|
rs113698150
|
0.00207
|
|
NM_001035.3(RYR2):c.2396+17T>G
|
rs376363428
|
0.00207
|
|
NM_013266.4(CTNNA3):c.33C>T (p.Ile11=)
|
rs61735044
|
0.00206
|
|
NM_001035.3(RYR2):c.2760G>A (p.Glu920=)
|
rs186181155
|
0.00205
|
|
NM_001943.5(DSG2):c.*990G>A
|
rs553112355
|
0.00205
|
|
NM_001005242.3(PKP2):c.2168-19T>A
|
rs527736735
|
0.00203
|
|
NM_001035.3(RYR2):c.10324-4A>G
|
rs72751287
|
0.00203
|
|
NM_004415.4(DSP):c.4383G>A (p.Glu1461=)
|
rs140029036
|
0.00197
|
|
NM_004415.4(DSP):c.4588G>T (p.Val1530Phe)
|
rs141227126
|
0.00197
|
|
NM_001943.5(DSG2):c.3082G>A (p.Gly1028Ser)
|
rs150864240
|
0.00196
|
|
NM_001005242.3(PKP2):c.951G>A (p.Ala317=)
|
rs61729382
|
0.00195
|
|
NM_004415.4(DSP):c.1488G>A (p.Thr496=)
|
rs35820473
|
0.00195
|
|
NM_024422.6(DSC2):c.2616C>T (p.Cys872=)
|
rs61731920
|
0.00194
|
|
NM_001943.5(DSG2):c.6G>A (p.Ala2=)
|
rs368809971
|
0.00193
|
|
NM_013266.4(CTNNA3):c.2172A>C (p.Pro724=)
|
rs116662854
|
0.00191
|
|
NM_001005242.3(PKP2):c.706G>T (p.Ala236Ser)
|
rs62001015
|
0.00189
|
|
NM_013266.4(CTNNA3):c.742G>T (p.Ala248Ser)
|
rs192093851
|
0.00189
|
|
NM_001943.5(DSG2):c.*1399A>G
|
rs117440439
|
0.00186
|
|
NM_004415.4(DSP):c.1206G>A (p.Lys402=)
|
rs150422458
|
0.00185
|
|
NM_001943.5(DSG2):c.1550C>T (p.Ala517Val)
|
rs200509948
|
0.00184
|
|
NM_006073.4(TRDN):c.1531C>A (p.Pro511Thr)
|
rs146935076
|
0.00183
|
|
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys)
|
rs185788586
|
0.00182
|
|
NM_001943.4(DSG2):c.-79C>G
|
rs552915392
|
0.00179
|
|
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp)
|
rs148041814
|
0.00178
|
|
NM_013266.4(CTNNA3):c.1195C>A (p.Leu399Ile)
|
rs115276158
|
0.00178
|
|
NM_013266.4(CTNNA3):c.429T>C (p.Asp143=)
|
rs111880127
|
0.00178
|
|
NM_001943.5(DSG2):c.45+16G>C
|
rs199519502
|
0.00177
|
|
NM_001943.5(DSG2):c.-55G>C
|
rs551539015
|
0.00176
|
|
NM_001943.5(DSG2):c.1652-12C>T
|
rs140850369
|
0.00173
|
|
NM_001943.5(DSG2):c.*989C>T
|
rs140755940
|
0.00172
|
|
NM_002471.4(MYH6):c.3979-2A>C
|
rs1158854454
|
0.00172
|
|
NM_013266.4(CTNNA3):c.580-8C>T
|
rs141983252
|
0.00170
|
|
NM_013266.4(CTNNA3):c.2158A>C (p.Arg720=)
|
rs143867269
|
0.00169
|
|
NM_001035.3(RYR2):c.13782+20A>G
|
rs368059068
|
0.00162
|
|
NM_001232.4(CASQ2):c.421-14G>A
|
rs139281637
|
0.00159
|
|
NM_001943.5(DSG2):c.1174G>A (p.Val392Ile)
|
rs193922639
|
0.00158
|
|
NM_001035.3(RYR2):c.14756+12C>T
|
rs2275693
|
0.00156
|
|
NM_004415.4(DSP):c.1920C>T (p.Ile640=)
|
rs74806300
|
0.00156
|
|
NM_001035.3(RYR2):c.4596+12G>A
|
rs148557427
|
0.00153
|
|
NM_201384.3(PLEC):c.8051G>A (p.Arg2684Gln)
|
rs200239963
|
0.00153
|
|
NM_001035.3(RYR2):c.2301G>T (p.Ser767=)
|
rs117588730
|
0.00150
|
|
NM_001943.5(DSG2):c.166G>A (p.Val56Met)
|
rs121913013
|
0.00150
|
|
NM_001005242.3(PKP2):c.2353G>A (p.Asp785Asn)
|
rs151264959
|
0.00148
|
|
NM_001035.3(RYR2):c.309+7C>T
|
rs377710043
|
0.00146
|
|
NM_002230.4(JUP):c.*21C>A
|
rs41275669
|
0.00146
|
|
NM_001035.3(RYR2):c.9067+12C>T
|
rs112365440
|
0.00143
|
|
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp)
|
rs145933612
|
0.00143
|
|
NM_001005242.3(PKP2):c.1012A>G (p.Thr338Ala)
|
rs139851304
|
0.00142
|
|
NM_001032283.3(TMPO):c.565+1696C>T
|
rs141443652
|
0.00142
|
|
NM_024422.6(DSC2):c.-408T>C
|
rs188926948
|
0.00141
|
|
NM_024422.6(DSC2):c.*764T>A
|
rs539965523
|
0.00140
|
|
NM_004415.4(DSP):c.6678T>A (p.Gly2226=)
|
rs149070106
|
0.00139
|
|
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val)
|
rs151024019
|
0.00138
|
|
NM_001035.3(RYR2):c.9560A>G (p.Lys3187Arg)
|
rs184218219
|
0.00137
|
|
NM_001943.5(DSG2):c.3295A>G (p.Thr1099Ala)
|
rs79068489
|
0.00137
|
|
NM_006073.4(TRDN):c.1713A>C (p.Glu571Asp)
|
rs201115952
|
0.00133
|
|
NM_001035.3(RYR2):c.10641G>A (p.Thr3547=)
|
rs144256966
|
0.00132
|
|
NM_004415.4(DSP):c.3696C>A (p.Ser1232=)
|
rs141120358
|
0.00132
|
|
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly)
|
rs28763965
|
0.00131
|
|
NM_001943.5(DSG2):c.2368C>T (p.His790Tyr)
|
rs114544564
|
0.00130
|
|
NM_002230.4(JUP):c.*771G>C
|
rs569650118
|
0.00130
|
|
NM_013266.4(CTNNA3):c.1453A>T (p.Thr485Ser)
|
rs140913916
|
0.00130
|
|
NM_001943.5(DSG2):c.1875G>C (p.Leu625=)
|
rs35743180
|
0.00128
|
|
NM_004415.4(DSP):c.*39T>C
|
rs145079869
|
0.00128
|
|
NM_006073.4(TRDN):c.1367A>G (p.Gln456Arg)
|
rs200243235
|
0.00128
|
|
NM_001943.5(DSG2):c.*1530T>C
|
rs15668
|
0.00126
|
|
NM_004415.4(DSP):c.2346C>T (p.Asp782=)
|
rs139071827
|
0.00126
|
|
NM_002230.4(JUP):c.*787A>G
|
rs551870163
|
0.00125
|
|
NM_004415.4(DSP):c.522T>C (p.Cys174=)
|
rs144781697
|
0.00124
|
|
NM_001035.3(RYR2):c.5586C>T (p.Asp1862=)
|
rs193922628
|
0.00123
|
|
NM_001035.3(RYR2):c.4740G>A (p.Pro1580=)
|
rs79811945
|
0.00119
|
|
NM_001035.3(RYR2):c.726C>T (p.Asp242=)
|
rs76380341
|
0.00119
|
|
NM_004415.4(DSP):c.939+17C>T
|
rs140481492
|
0.00118
|
|
NM_001035.3(RYR2):c.4605G>A (p.Pro1535=)
|
rs201916326
|
0.00117
|
|
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=)
|
rs41267517
|
0.00116
|
|
NM_013266.4(CTNNA3):c.1936C>T (p.Arg646Cys)
|
rs111425421
|
0.00116
|
|
NM_001943.5(DSG2):c.2703A>G (p.Lys901=)
|
rs113591687
|
0.00114
|
|
NM_004415.4(DSP):c.2986-6T>A
|
rs144748036
|
0.00108
|
|
NM_001035.3(RYR2):c.*509A>G
|
rs565288028
|
0.00105
|
|
NM_001035.3(RYR2):c.1143C>T (p.Ser381=)
|
rs368844286
|
0.00105
|
|
NM_001267550.2(TTN):c.91589C>T (p.Pro30530Leu)
|
rs200875379
|
0.00105
|
|
NM_001035.3(RYR2):c.1135G>A (p.Val379Met)
|
rs199693714
|
0.00104
|
|
NM_001943.5(DSG2):c.221A>G (p.His74Arg)
|
rs201855245
|
0.00104
|
|
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile)
|
rs139399951
|
0.00104
|
|
NM_001035.3(RYR2):c.1296C>A (p.Gly432=)
|
rs184176405
|
0.00103
|
|
NM_004415.4(DSP):c.8455A>C (p.Met2819Leu)
|
rs138329459
|
0.00103
|
|
NM_024422.6(DSC2):c.*1541A>T
|
rs571420655
|
0.00101
|
|
NM_024334.3(TMEM43):c.392+16G>A
|
rs150859949
|
0.00100
|
|
NM_000238.4(KCNH2):c.3133C>T (p.Leu1045Phe)
|
rs199473025
|
0.00098
|
|
NM_004572.3(PKP2):c.-99T>C
|
rs565997897
|
0.00098
|
|
NM_006073.4(TRDN):c.932-4C>G
|
rs77768246
|
0.00098
|
|
NM_013266.4(CTNNA3):c.844-15G>A
|
rs201089736
|
0.00098
|
|
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly)
|
rs139139859
|
0.00096
|
|
NM_004415.4(DSP):c.88G>A (p.Val30Met)
|
rs121912998
|
0.00094
|
|
NM_024422.6(DSC2):c.34G>A (p.Gly12Arg)
|
rs568391206
|
0.00093
|
|
NM_001005242.3(PKP2):c.156G>A (p.Lys52=)
|
rs201210997
|
0.00092
|
|
NM_003239.5(TGFB3):c.293C>T (p.Ser98Leu)
|
rs142047577
|
0.00092
|
|
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys)
|
rs142885240
|
0.00091
|
|
NM_002230.4(JUP):c.567C>T (p.Val189=)
|
rs35297577
|
0.00090
|
|
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu)
|
rs151310601
|
0.00089
|
|
NM_024334.3(TMEM43):c.163-6T>A
|
rs372434224
|
0.00088
|
|
NM_004415.4(DSP):c.7734C>T (p.Ser2578=)
|
rs28763970
|
0.00087
|
|
NM_001035.3(RYR2):c.828A>G (p.Arg276=)
|
rs180711819
|
0.00086
|
|
NM_013266.4(CTNNA3):c.2160-19T>C
|
rs200450770
|
0.00086
|
|
NM_001035.3(RYR2):c.231G>A (p.Ala77=)
|
rs376225470
|
0.00084
|
|
NM_201384.3(PLEC):c.5471C>T (p.Ala1824Val)
|
rs542642242
|
0.00084
|
|
NM_004415.4(DSP):c.741G>A (p.Ala247=)
|
rs2806234
|
0.00083
|
|
NM_024422.6(DSC2):c.*534A>G
|
rs373266930
|
0.00083
|
|
NM_145046.5(CALR3):c.245A>G (p.Lys82Arg)
|
rs142951029
|
0.00083
|
|
NM_002230.4(JUP):c.*98C>T
|
rs112151379
|
0.00080
|
|
NM_024422.6(DSC2):c.*1104G>A
|
rs186055396
|
0.00080
|
|
NM_024422.6(DSC2):c.2636A>G (p.Asp879Gly)
|
rs143342988
|
0.00079
|
|
NM_004415.4(DSP):c.8605A>G (p.Ile2869Val)
|
rs28763971
|
0.00077
|
|
NM_001232.4(CASQ2):c.481A>G (p.Ile161Val)
|
rs146333579
|
0.00076
|
|
NM_001105206.3(LAMA4):c.1959T>C (p.Asp653=)
|
rs143269044
|
0.00074
|
|
NM_002230.4(JUP):c.2059A>G (p.Ile687Val)
|
rs138366708
|
0.00074
|
|
NM_001005242.3(PKP2):c.1171-10T>C
|
rs200122872
|
0.00073
|
|
NM_001943.5(DSG2):c.216+16G>A
|
rs200239610
|
0.00073
|
|
NM_004415.4(DSP):c.4065T>C (p.Tyr1355=)
|
rs148478829
|
0.00073
|
|
NM_024422.6(DSC2):c.*1784G>T
|
rs375290800
|
0.00073
|
|
NM_001035.3(RYR2):c.7619A>G (p.His2540Arg)
|
rs200105499
|
0.00072
|
|
NM_001035.3(RYR2):c.1134C>T (p.Asp378=)
|
rs193922621
|
0.00071
|
|
NM_001035.3(RYR2):c.14484G>T (p.Gly4828=)
|
rs370996795
|
0.00071
|
|
NM_001035.3(RYR2):c.3030T>C (p.Asp1010=)
|
rs138064129
|
0.00071
|
|
NM_001005242.3(PKP2):c.1379-2067G>A
|
rs138538072
|
0.00070
|
|
NM_006073.4(TRDN):c.84C>T (p.Pro28=)
|
rs145992727
|
0.00070
|
|
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys)
|
rs144799937
|
0.00070
|
|
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr)
|
rs201500134
|
0.00069
|
|
NM_024334.3(TMEM43):c.424G>A (p.Glu142Lys)
|
rs145619906
|
0.00069
|
|
NM_024422.6(DSC2):c.1789G>T (p.Val597Phe)
|
rs143040393
|
0.00068
|
|
NM_001232.3(CASQ2):c.-234C>A
|
rs553316024
|
0.00067
|
|
NM_004415.4(DSP):c.782C>T (p.Ala261Val)
|
rs139509870
|
0.00067
|
|
NM_001035.3(RYR2):c.11557+14C>T
|
rs374155447
|
0.00066
|
|
NM_001035.3(RYR2):c.14090+14C>T
|
rs374425124
|
0.00066
|
|
NM_003239.5(TGFB3):c.179C>T (p.Thr60Met)
|
rs4252315
|
0.00066
|
|
NM_024422.6(DSC2):c.172T>G (p.Phe58Val)
|
rs138749562
|
0.00066
|
|
NM_024334.3(TMEM43):c.780+16A>G
|
rs146077457
|
0.00065
|
|
NM_001005242.3(PKP2):c.*1246C>T
|
rs187618849
|
0.00064
|
|
NM_013266.4(CTNNA3):c.156G>C (p.Ser52=)
|
rs61759502
|
0.00064
|
|
NM_000335.5(SCN5A):c.5357G>A (p.Ser1786Asn)
|
rs199473316
|
0.00063
|
|
NM_001035.3(RYR2):c.1110A>G (p.Leu370=)
|
rs150705689
|
0.00063
|
|
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln)
|
rs149514924
|
0.00063
|
|
NM_001035.3(RYR2):c.4347T>C (p.Asp1449=)
|
rs368930040
|
0.00063
|
|
NM_001035.3(RYR2):c.615C>T (p.Ala205=)
|
rs112680790
|
0.00063
|
|
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly)
|
rs147000526
|
0.00062
|
|
NM_001035.3(RYR2):c.2935G>T (p.Ala979Ser)
|
rs202015519
|
0.00061
|
|
NM_001943.5(DSG2):c.852T>C (p.Asn284=)
|
rs62095193
|
0.00061
|
|
NM_024422.6(DSC2):c.2498G>A (p.Arg833His)
|
rs370325533
|
0.00061
|
|
NM_001005242.3(PKP2):c.1955A>G (p.Asn652Ser)
|
rs140852019
|
0.00060
|
|
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala)
|
rs191564916
|
0.00060
|
|
NM_005751.5(AKAP9):c.10672A>G (p.Ile3558Val)
|
rs144054367
|
0.00060
|
|
NM_006073.4(TRDN):c.277C>T (p.Arg93Cys)
|
rs370788759
|
0.00060
|
|
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val)
|
rs148185335
|
0.00060
|
|
NM_001035.3(RYR2):c.11092-10A>T
|
rs577119352
|
0.00059
|
|
NM_001035.3(RYR2):c.3054T>C (p.Tyr1018=)
|
rs113422365
|
0.00058
|
|
NM_013266.4(CTNNA3):c.1900G>A (p.Glu634Lys)
|
rs77165728
|
0.00058
|
|
NM_001035.3(RYR2):c.3230T>C (p.Val1077Ala)
|
rs202176504
|
0.00057
|
|
NM_024422.6(DSC2):c.270G>A (p.Glu90=)
|
rs138643506
|
0.00056
|
|
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu)
|
rs146664754
|
0.00055
|
|
NM_004415.4(DSP):c.1778A>G (p.Asn593Ser)
|
rs34239595
|
0.00055
|
|
NM_013266.4(CTNNA3):c.1929C>T (p.His643=)
|
rs147760277
|
0.00055
|
|
NM_001035.3(RYR2):c.*980T>C
|
rs147077947
|
0.00054
|
|
NM_001943.5(DSG2):c.*2C>T
|
rs183494886
|
0.00054
|
|
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu)
|
rs113451409
|
0.00054
|
|
NM_001943.5(DSG2):c.44T>A (p.Leu15Gln)
|
rs372174546
|
0.00054
|
|
NM_001005242.3(PKP2):c.1379-2054C>T
|
rs144620127
|
0.00053
|
|
NM_001035.3(RYR2):c.1548T>C (p.Asp516=)
|
rs146129084
|
0.00053
|
|
NM_024422.6(DSC2):c.1901G>A (p.Arg634His)
|
rs200475862
|
0.00052
|
|
NM_001005242.3(PKP2):c.2168-6T>C
|
rs368531764
|
0.00051
|
|
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=)
|
rs370332882
|
0.00051
|
|
NM_001035.3(RYR2):c.12663C>T (p.Ser4221=)
|
rs370297602
|
0.00051
|
|
NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met)
|
rs200236750
|
0.00051
|
|
NM_001005242.3(PKP2):c.1379-2109G>A
|
rs139159464
|
0.00050
|
|
NM_001005242.3(PKP2):c.1379-2019C>T
|
rs149930872
|
0.00049
|
|
NM_001035.3(RYR2):c.9450-3T>C
|
rs188671846
|
0.00049
|
|
NM_002230.4(JUP):c.1054+7A>T
|
rs371988639
|
0.00049
|
|
NM_002230.4(JUP):c.297G>A (p.Ser99=)
|
rs200976464
|
0.00049
|
|
NM_001035.3(RYR2):c.10231-4T>C
|
rs117180147
|
0.00048
|
|
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly)
|
rs200525962
|
0.00048
|
|
NM_004415.4(DSP):c.1574+14G>T
|
rs200443042
|
0.00048
|
|
NM_024334.3(TMEM43):c.705+7G>A
|
rs201916031
|
0.00048
|
|
NM_001035.3(RYR2):c.8209-3A>G
|
rs376788358
|
0.00047
|
|
NM_004415.4(DSP):c.8019C>T (p.Asp2673=)
|
rs144275591
|
0.00047
|
|
NM_001035.3(RYR2):c.13261-18C>T
|
rs376854613
|
0.00046
|
|
NM_001035.3(RYR2):c.1822C>T (p.His608Tyr)
|
rs727504718
|
0.00046
|
|
NM_001035.3(RYR2):c.3888C>T (p.Asn1296=)
|
rs373721253
|
0.00046
|
|
NM_001035.3(RYR2):c.5619A>G (p.Ala1873=)
|
rs373282364
|
0.00046
|
|
NM_001035.3(RYR2):c.7233C>T (p.Ala2411=)
|
rs367994477
|
0.00046
|
|
NM_004415.4(DSP):c.8301C>G (p.Thr2767=)
|
rs145362059
|
0.00046
|
|
NM_024334.3(TMEM43):c.1105C>T (p.Leu369Phe)
|
rs144152046
|
0.00046
|
|
NM_001035.3(RYR2):c.6337G>A (p.Val2113Met)
|
rs186906598
|
0.00045
|
|
NM_024334.3(TMEM43):c.516C>T (p.Ala172=)
|
rs148432515
|
0.00045
|
|
NM_024422.6(DSC2):c.*472T>A
|
rs555348907
|
0.00045
|
|
NM_024422.6(DSC2):c.2497C>T (p.Arg833Cys)
|
rs142410803
|
0.00045
|
|
NM_006073.4(TRDN):c.1895G>A (p.Arg632Lys)
|
rs181571822
|
0.00044
|
|
NM_006073.4(TRDN):c.611-19A>T
|
rs142018848
|
0.00044
|
|
NM_013266.4(CTNNA3):c.1132C>T (p.Arg378Cys)
|
rs187752783
|
0.00044
|
|
NM_024334.3(TMEM43):c.279C>T (p.Gly93=)
|
rs149883381
|
0.00044
|
|
NM_001035.3(RYR2):c.1053A>G (p.Thr351=)
|
rs187565743
|
0.00043
|
|
NM_001035.3(RYR2):c.13974A>G (p.Gly4658=)
|
rs374606415
|
0.00043
|
|
NM_001035.3(RYR2):c.14152-17C>G
|
rs368078898
|
0.00043
|
|
NM_004415.4(DSP):c.2683T>C (p.Tyr895His)
|
rs375891215
|
0.00043
|
|
NM_001035.3(RYR2):c.2397-16C>T
|
rs12081629
|
0.00042
|
|
NM_001035.3(RYR2):c.463+14G>A
|
rs776302587
|
0.00042
|
|
NM_001267550.2(TTN):c.21548G>A (p.Cys7183Tyr)
|
rs189951108
|
0.00042
|
|
NM_004415.4(DSP):c.3123C>T (p.Leu1041=)
|
rs149929637
|
0.00042
|
|
NM_006073.4(TRDN):c.546G>A (p.Lys182=)
|
rs377594350
|
0.00042
|
|
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys)
|
rs199601548
|
0.00041
|
|
NM_001035.3(RYR2):c.12705C>T (p.Phe4235=)
|
rs373606009
|
0.00041
|
|
NM_001035.3(RYR2):c.273+18G>A
|
rs371912039
|
0.00041
|
|
NM_002230.4(JUP):c.510G>A (p.Ser170=)
|
rs140539043
|
0.00041
|
|
NM_004415.4(DSP):c.2723G>A (p.Arg908His)
|
rs142494121
|
0.00041
|
|
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln)
|
rs142803672
|
0.00041
|
|
NM_006073.4(TRDN):c.1193A>T (p.Glu398Val)
|
rs374355537
|
0.00041
|
|
NM_024334.3(TMEM43):c.45C>A (p.Val15=)
|
rs150334659
|
0.00041
|
|
NM_001005242.3(PKP2):c.1418A>G (p.Asn473Ser)
|
rs144536197
|
0.00039
|
|
NM_001035.3(RYR2):c.9519T>C (p.Thr3173=)
|
rs371931287
|
0.00039
|
|
NM_001232.4(CASQ2):c.928G>A (p.Asp310Asn)
|
rs141314684
|
0.00039
|
|
NM_001267550.2(TTN):c.53122A>G (p.Lys17708Glu)
|
rs185913848
|
0.00039
|
|
NM_001943.5(DSG2):c.*211A>G
|
rs555912274
|
0.00039
|
|
NM_001943.5(DSG2):c.121C>A (p.His41Asn)
|
rs201499704
|
0.00039
|
|
NM_004415.4(DSP):c.4500G>T (p.Leu1500=)
|
rs372881903
|
0.00039
|
|
NM_020297.4(ABCC9):c.2050G>A (p.Gly684Ser)
|
rs148174226
|
0.00039
|
|
NM_001035.3(RYR2):c.10381A>G (p.Met3461Val)
|
rs147512481
|
0.00038
|
|
NM_001035.3(RYR2):c.11246-11del
|
rs397516503
|
0.00038
|
|
NM_001035.3(RYR2):c.11496C>T (p.Asp3832=)
|
rs397516505
|
0.00038
|
|
NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys)
|
rs200092869
|
0.00038
|
|
NM_001943.5(DSG2):c.*889G>A
|
rs886053729
|
0.00038
|
|
NM_001943.5(DSG2):c.1781T>C (p.Leu594Pro)
|
rs199681901
|
0.00038
|
|
NM_001943.5(DSG2):c.3266G>A (p.Gly1089Asp)
|
rs200264407
|
0.00038
|
|
NM_002230.4(JUP):c.1807G>T (p.Val603Leu)
|
rs200327969
|
0.00038
|
|
NM_004415.4(DSP):c.6296C>T (p.Pro2099Leu)
|
rs201625698
|
0.00038
|
|
NM_004415.4(DSP):c.688G>A (p.Asp230Asn)
|
rs147315869
|
0.00038
|
|
NM_006073.4(TRDN):c.1538-19T>A
|
rs142237914
|
0.00038
|
|
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr)
|
rs72648940
|
0.00037
|
|
NM_001943.5(DSG2):c.*737C>G
|
rs767211637
|
0.00037
|
|
NM_001943.5(DSG2):c.716T>C (p.Val239Ala)
|
rs200997703
|
0.00037
|
|
NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln)
|
rs184154918
|
0.00037
|
|
NM_002230.4(JUP):c.1366G>A (p.Val456Ile)
|
rs78437817
|
0.00036
|
|
NM_002230.4(JUP):c.633C>T (p.Asn211=)
|
rs372145644
|
0.00036
|
|
NM_004415.4(DSP):c.6319G>C (p.Val2107Leu)
|
rs144263721
|
0.00036
|
|
NM_004415.4(DSP):c.8199G>C (p.Thr2733=)
|
rs145085696
|
0.00036
|
|
NM_006073.4(TRDN):c.1472-12G>A
|
rs375364108
|
0.00036
|
|
NM_006073.4(TRDN):c.367G>A (p.Asp123Asn)
|
rs201021891
|
0.00036
|
|
NM_024334.3(TMEM43):c.777C>T (p.His259=)
|
rs143958148
|
0.00036
|
|
NM_024422.6(DSC2):c.1914G>C (p.Gln638His)
|
rs147742157
|
0.00036
|
|
NM_001035.3(RYR2):c.*399A>G
|
rs184537159
|
0.00035
|
|
NM_024334.3(TMEM43):c.484G>A (p.Asp162Asn)
|
rs150425166
|
0.00035
|
|
NM_024422.6(DSC2):c.1775C>T (p.Ala592Val)
|
rs140232809
|
0.00035
|
|
NM_001005242.3(PKP2):c.2355T>C (p.Asp785=)
|
rs142362933
|
0.00034
|
|
NM_001035.3(RYR2):c.463+6dup
|
rs397516534
|
0.00034
|
|
NM_001035.3(RYR2):c.7925G>A (p.Arg2642Lys)
|
rs377473366
|
0.00034
|
|
NM_001943.5(DSG2):c.829-19_829-18del
|
rs111241096
|
0.00034
|
|
NM_004415.4(DSP):c.2288A>G (p.Tyr763Cys)
|
rs113967308
|
0.00034
|
|
NM_006073.4(TRDN):c.71T>A (p.Val24Glu)
|
rs201097255
|
0.00034
|
|
NM_013266.4(CTNNA3):c.2159+15A>G
|
rs749117441
|
0.00034
|
|
NM_013266.4(CTNNA3):c.2524C>T (p.Arg842Trp)
|
rs199852825
|
0.00034
|
|
NM_024422.6(DSC2):c.174T>C (p.Phe58=)
|
rs150792047
|
0.00034
|
|
NM_001232.4(CASQ2):c.874G>T (p.Ala292Ser)
|
rs200643387
|
0.00033
|
|
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys)
|
rs147415451
|
0.00033
|
|
NM_004415.4(DSP):c.6295C>A (p.Pro2099Thr)
|
rs200752536
|
0.00033
|
|
NM_006073.4(TRDN):c.1472-13C>T
|
rs367962513
|
0.00033
|
|
NM_001232.4(CASQ2):c.320-18C>T
|
rs376871374
|
0.00032
|
|
NM_001943.5(DSG2):c.*1036C>G
|
rs191443311
|
0.00032
|
|
NM_001943.5(DSG2):c.2192A>C (p.Gln731Pro)
|
rs202063433
|
0.00032
|
|
NM_004415.4(DSP):c.531C>G (p.Gly177=)
|
rs138865799
|
0.00032
|
|
NM_024422.6(DSC2):c.1269G>A (p.Leu423=)
|
rs376049846
|
0.00032
|
|
NM_001035.3(RYR2):c.11092-6A>T
|
rs397516501
|
0.00031
|
|
NM_001035.3(RYR2):c.11646+18T>A
|
rs368433873
|
0.00031
|
|
NM_001035.3(RYR2):c.12842C>T (p.Thr4281Met)
|
rs201829896
|
0.00031
|
|
NM_001035.3(RYR2):c.3067-16_3067-15del
|
rs727504453
|
0.00031
|
|
NM_001035.3(RYR2):c.774-14G>T
|
rs370114411
|
0.00031
|
|
NM_001232.4(CASQ2):c.1131A>T (p.Glu377Asp)
|
rs148824162
|
0.00031
|
|
NM_001267550.2(TTN):c.43690T>A (p.Ser14564Thr)
|
rs181189778
|
0.00031
|
|
NM_002230.4(JUP):c.*339C>T
|
rs575041614
|
0.00031
|
|
NM_004415.4(DSP):c.273+5G>A
|
rs200473206
|
0.00031
|
|
NM_013266.4(CTNNA3):c.880G>A (p.Glu294Lys)
|
rs146475470
|
0.00031
|
|
NM_024334.3(TMEM43):c.442+7G>A
|
rs373590238
|
0.00031
|
|
NM_001005242.3(PKP2):c.1863G>A (p.Pro621=)
|
rs146144731
|
0.00030
|
|
NM_001035.3(RYR2):c.1292+19G>A
|
rs368198276
|
0.00030
|
|
NM_001035.3(RYR2):c.9923A>G (p.Asn3308Ser)
|
rs201081663
|
0.00030
|
|
NM_001943.5(DSG2):c.*1831T>C
|
rs546796254
|
0.00030
|
|
NM_001943.5(DSG2):c.1280+18G>C
|
rs141175168
|
0.00030
|
|
NM_004415.4(DSP):c.1574+7C>T
|
rs375717504
|
0.00030
|
|
NM_001035.3(RYR2):c.649A>G (p.Ile217Val)
|
rs200642525
|
0.00029
|
|
NM_002230.4(JUP):c.459C>T (p.Asp153=)
|
rs376289528
|
0.00029
|
|
NM_004415.4(DSP):c.5991G>A (p.Gly1997=)
|
rs538244495
|
0.00029
|
|
NM_006073.4(TRDN):c.992-17T>G
|
rs189142809
|
0.00029
|
|
NM_024422.6(DSC2):c.1559T>C (p.Ile520Thr)
|
rs561310777
|
0.00029
|
|
NM_001035.3(RYR2):c.10231-5C>T
|
rs186326951
|
0.00028
|
|
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys)
|
rs571985775
|
0.00028
|
|
NM_001035.3(RYR2):c.14809-20C>T
|
rs141119268
|
0.00028
|
|
NM_001232.4(CASQ2):c.861C>A (p.Ile287=)
|
rs143718767
|
0.00028
|
|
NM_006073.4(TRDN):c.1811C>T (p.Thr604Ile)
|
rs763939252
|
0.00028
|
|
NM_013266.4(CTNNA3):c.1192G>A (p.Val398Ile)
|
rs145043626
|
0.00028
|
|
NM_013266.4(CTNNA3):c.1937G>A (p.Arg646His)
|
rs370269225
|
0.00028
|
|
NM_013266.4(CTNNA3):c.2573T>C (p.Leu858Ser)
|
rs41313840
|
0.00028
|
|
NM_001035.3(RYR2):c.*55T>C
|
rs192720264
|
0.00027
|
|
NM_004415.4(DSP):c.1154C>T (p.Ala385Val)
|
rs146737031
|
0.00027
|
|
NM_001005242.3(PKP2):c.696C>T (p.Asp232=)
|
rs375677250
|
0.00026
|
|
NM_001005242.3(PKP2):c.983G>C (p.Gly328Ala)
|
rs144651139
|
0.00026
|
|
NM_001035.3(RYR2):c.*1108A>G
|
rs540171235
|
0.00026
|
|
NM_001035.3(RYR2):c.12917T>C (p.Phe4306Ser)
|
rs776091285
|
0.00026
|
|
NM_001035.3(RYR2):c.14757-19A>G
|
rs190533014
|
0.00026
|
|
NM_001035.3(RYR2):c.8831-9A>C
|
rs187977513
|
0.00026
|
|
NM_002230.4(JUP):c.486G>A (p.Ala162=)
|
rs113317262
|
0.00026
|
|
NM_004415.4(DSP):c.*47T>C
|
rs376397291
|
0.00026
|
|
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr)
|
rs148147581
|
0.00026
|
|
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln)
|
rs116888866
|
0.00026
|
|
NM_006073.4(TRDN):c.2187G>T (p.Gln729His)
|
rs373439044
|
0.00026
|
|
NM_013266.4(CTNNA3):c.387G>A (p.Leu129=)
|
rs143943926
|
0.00026
|
|
NM_024422.6(DSC2):c.*1927T>C
|
rs532718510
|
0.00026
|
|
NM_024422.6(DSC2):c.631-13dup
|
rs551337657
|
0.00026
|
|
NM_001035.3(RYR2):c.2574G>A (p.Thr858=)
|
rs367992907
|
0.00025
|
|
NM_001035.3(RYR2):c.6689-12T>C
|
rs370972311
|
0.00025
|
|
NM_001035.3(RYR2):c.8204A>C (p.Asp2735Ala)
|
rs1213772557
|
0.00025
|
|
NM_001943.5(DSG2):c.*300G>A
|
rs747504155
|
0.00025
|
|
NM_002230.4(JUP):c.1910G>A (p.Arg637His)
|
rs142095597
|
0.00025
|
|
NM_004415.4(DSP):c.3297G>C (p.Lys1099Asn)
|
rs370550974
|
0.00025
|
|
NM_004415.4(DSP):c.7848G>A (p.Ser2616=)
|
rs148798300
|
0.00025
|
|
NM_024422.6(DSC2):c.1729A>G (p.Ile577Val)
|
rs201845641
|
0.00025
|
|
NM_001035.3(RYR2):c.-63G>T
|
rs578020342
|
0.00024
|
|
NM_001035.3(RYR2):c.10554+16T>C
|
rs370288739
|
0.00024
|
|
NM_001035.3(RYR2):c.12492G>A (p.Gln4164=)
|
rs377293019
|
0.00024
|
|
NM_001035.3(RYR2):c.3720C>T (p.Ala1240=)
|
rs750335699
|
0.00024
|
|
NM_001035.3(RYR2):c.892C>T (p.Arg298Cys)
|
rs551099887
|
0.00024
|
|
NM_001232.4(CASQ2):c.985C>T (p.Pro329Ser)
|
rs28730713
|
0.00024
|
|
NM_001267550.2(TTN):c.59113C>T (p.Arg19705Cys)
|
rs72646839
|
0.00024
|
|
NM_001943.5(DSG2):c.2913T>G (p.Ala971=)
|
rs200793530
|
0.00024
|
|
NM_004415.4(DSP):c.6381C>T (p.Ala2127=)
|
rs146315412
|
0.00024
|
|
NM_013266.4(CTNNA3):c.155C>T (p.Ser52Leu)
|
rs139105272
|
0.00024
|
|
NM_024334.3(TMEM43):c.1111T>C (p.Tyr371His)
|
rs116911972
|
0.00024
|
|
NM_024334.3(TMEM43):c.564C>T (p.Gly188=)
|
rs143124744
|
0.00024
|
|
NM_024422.6(DSC2):c.1520+8C>G
|
rs372979057
|
0.00024
|
|
NM_024422.6(DSC2):c.857G>T (p.Gly286Val)
|
rs199682735
|
0.00024
|
|
NM_001005242.3(PKP2):c.*330A>G
|
rs375759731
|
0.00023
|
|
NM_001005242.3(PKP2):c.1379-2025G>A
|
rs537458442
|
0.00023
|
|
NM_001035.3(RYR2):c.2907-19C>T
|
rs549409624
|
0.00023
|
|
NM_001035.3(RYR2):c.8060G>A (p.Ser2687Asn)
|
rs202020477
|
0.00023
|
|
NM_002230.4(JUP):c.546G>A (p.Ser182=)
|
rs202038498
|
0.00023
|
|
NM_004415.4(DSP):c.2794-4dup
|
rs397516924
|
0.00023
|
|
NM_006073.4(TRDN):c.1783+18G>A
|
rs374452538
|
0.00023
|
|
NM_024422.6(DSC2):c.*1628T>G
|
rs767804423
|
0.00023
|
|
NM_024422.6(DSC2):c.-113C>A
|
rs866593085
|
0.00023
|
|
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg)
|
rs147109895
|
0.00023
|
|
NM_001005242.3(PKP2):c.*110T>G
|
rs575103888
|
0.00022
|
|
NM_001005242.3(PKP2):c.198G>A (p.Arg66=)
|
rs144106848
|
0.00022
|
|
NM_001005242.3(PKP2):c.302G>A (p.Arg101His)
|
rs149542398
|
0.00022
|
|
NM_001943.5(DSG2):c.*608G>A
|
rs886053724
|
0.00022
|
|
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu)
|
rs151178348
|
0.00022
|
|
NM_004415.4(DSP):c.422+14A>G
|
rs533188973
|
0.00022
|
|
NM_004415.4(DSP):c.6207C>T (p.Val2069=)
|
rs147398792
|
0.00022
|
|
NM_006073.4(TRDN):c.375C>T (p.Asp125=)
|
rs377440434
|
0.00022
|
|
NM_013266.4(CTNNA3):c.1422G>A (p.Ala474=)
|
rs372258059
|
0.00022
|
|
NM_013266.4(CTNNA3):c.2601G>A (p.Thr867=)
|
rs575703238
|
0.00022
|
|
NM_013266.4(CTNNA3):c.779A>G (p.Gln260Arg)
|
rs190073606
|
0.00022
|
|
NM_024422.6(DSC2):c.*1704G>T
|
rs181853776
|
0.00022
|
|
NM_024422.6(DSC2):c.854T>C (p.Ile285Thr)
|
rs199918720
|
0.00022
|
|
NM_001005242.3(PKP2):c.*22G>A
|
rs371003054
|
0.00021
|
|
NM_001035.3(RYR2):c.1005+13A>G
|
rs552027921
|
0.00021
|
|
NM_001035.3(RYR2):c.10143-19T>C
|
rs373127797
|
0.00021
|
|
NM_001035.3(RYR2):c.13137C>A (p.Ile4379=)
|
rs369917806
|
0.00021
|
|
NM_001035.3(RYR2):c.1477-17_1477-16insC
|
rs746069322
|
0.00021
|
|
NM_001035.3(RYR2):c.2389G>A (p.Gly797Arg)
|
rs200121281
|
0.00021
|
|
NM_001035.3(RYR2):c.2613+4C>G
|
rs371880082
|
0.00021
|
|
NM_001035.3(RYR2):c.577-14G>A
|
rs148019277
|
0.00021
|
|
NM_001232.4(CASQ2):c.607-15T>C
|
rs138298959
|
0.00021
|
|
NM_002230.4(JUP):c.1507G>A (p.Gly503Ser)
|
rs376051686
|
0.00021
|
|
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys)
|
rs150339369
|
0.00021
|
|
NM_004415.4(DSP):c.5035C>T (p.His1679Tyr)
|
rs762561997
|
0.00021
|
|
NM_024334.3(TMEM43):c.1095G>A (p.Ala365=)
|
rs141675061
|
0.00021
|
|
NM_024334.3(TMEM43):c.347G>A (p.Arg116Gln)
|
rs143535006
|
0.00021
|
|
NM_024334.3(TMEM43):c.896G>C (p.Arg299Thr)
|
rs139590716
|
0.00021
|
|
NM_024422.6(DSC2):c.2546A>C (p.His849Pro)
|
rs184487763
|
0.00021
|
|
NM_024422.6(DSC2):c.348A>G (p.Gln116=)
|
rs137941742
|
0.00021
|
|
NM_024422.6(DSC2):c.907G>A (p.Val303Met)
|
rs145560678
|
0.00021
|
|
NM_001035.3(RYR2):c.13303A>G (p.Thr4435Ala)
|
rs374019555
|
0.00020
|
|
NM_001035.3(RYR2):c.14220C>T (p.Ala4740=)
|
rs368971586
|
0.00020
|
|
NM_001035.3(RYR2):c.1939C>T (p.Arg647Cys)
|
rs202040519
|
0.00020
|
|
NM_002230.4(JUP):c.258G>A (p.Arg86=)
|
rs147159111
|
0.00020
|
|
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala)
|
rs142717240
|
0.00020
|
|
NM_013266.4(CTNNA3):c.1574T>C (p.Leu525Ser)
|
rs369650158
|
0.00020
|
|
NM_000335.5(SCN5A):c.998+5G>A
|
rs187531872
|
0.00019
|
|
NM_001035.3(RYR2):c.1006-12C>T
|
rs367998175
|
0.00019
|
|
NM_001035.3(RYR2):c.3024G>A (p.Ala1008=)
|
rs566157997
|
0.00019
|
|
NM_001035.3(RYR2):c.3356G>A (p.Arg1119His)
|
rs201312753
|
0.00019
|
|
NM_001232.4(CASQ2):c.*929C>T
|
rs547458797
|
0.00019
|
|
NM_001232.4(CASQ2):c.1011A>T (p.Thr337=)
|
rs137999497
|
0.00019
|
|
NM_001943.5(DSG2):c.*739G>A
|
rs775624337
|
0.00019
|
|
NM_002230.4(JUP):c.1941C>T (p.Ala647=)
|
rs368865601
|
0.00019
|
|
NM_002230.4(JUP):c.2069A>G (p.Asn690Ser)
|
rs147628503
|
0.00019
|
|
NM_004415.4(DSP):c.1344G>A (p.Leu448=)
|
rs138226280
|
0.00019
|
|
NM_004415.4(DSP):c.6010G>T (p.Val2004Phe)
|
rs764692193
|
0.00019
|
|
NM_004415.4(DSP):c.6247C>T (p.Arg2083Cys)
|
rs370093129
|
0.00019
|
|
NM_004415.4(DSP):c.6351T>C (p.Asp2117=)
|
rs148743859
|
0.00019
|
|
NM_004415.4(DSP):c.8415C>T (p.Ala2805=)
|
rs377148997
|
0.00019
|
|
NM_004415.4(DSP):c.961G>C (p.Val321Leu)
|
rs143994626
|
0.00019
|
|
NM_006073.4(TRDN):c.1537+1G>A
|
rs189125299
|
0.00019
|
|
NM_013266.4(CTNNA3):c.1282-18T>C
|
rs374341741
|
0.00019
|
|
NM_201384.3(PLEC):c.5390G>A (p.Arg1797His)
|
rs782581787
|
0.00019
|
|
NM_001005242.3(PKP2):c.*839C>T
|
rs542578192
|
0.00018
|
|
NM_001035.3(RYR2):c.11116G>A (p.Asp3706Asn)
|
rs942040362
|
0.00018
|
|
NM_001035.3(RYR2):c.3225C>T (p.Ala1075=)
|
rs727505215
|
0.00018
|
|
NM_001035.3(RYR2):c.3408C>A (p.Ala1136=)
|
rs371248758
|
0.00018
|
|
NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys)
|
rs564806219
|
0.00018
|
|
NM_001943.5(DSG2):c.2334+9G>A
|
rs776516070
|
0.00018
|
|
NM_002230.4(JUP):c.1377G>T (p.Leu459=)
|
rs147370522
|
0.00018
|
|
NM_002230.4(JUP):c.1582G>A (p.Val528Ile)
|
rs368271628
|
0.00018
|
|
NM_002230.4(JUP):c.2031G>A (p.Pro677=)
|
rs188888662
|
0.00018
|
|
NM_002230.4(JUP):c.426C>T (p.Arg142=)
|
rs142599474
|
0.00018
|
|
NM_004415.4(DSP):c.269A>G (p.Gln90Arg)
|
rs188516326
|
0.00018
|
|
NM_013266.4(CTNNA3):c.18A>T (p.Pro6=)
|
rs138580439
|
0.00018
|
|
NM_013266.4(CTNNA3):c.2378G>A (p.Gly793Glu)
|
rs188248522
|
0.00018
|
|
NM_024422.6(DSC2):c.135C>T (p.Ala45=)
|
rs749323567
|
0.00018
|
|
NM_024422.6(DSC2):c.2264G>T (p.Gly755Val)
|
rs367990772
|
0.00018
|
|
NM_001005242.3(PKP2):c.928G>A (p.Val310Met)
|
rs768396351
|
0.00017
|
|
NM_001035.3(RYR2):c.4761C>T (p.His1587=)
|
rs369612535
|
0.00017
|
|
NM_001943.5(DSG2):c.1280+17C>T
|
rs199885701
|
0.00017
|
|
NM_001943.5(DSG2):c.1851C>T (p.Leu617=)
|
rs202057770
|
0.00017
|
|
NM_002230.4(JUP):c.1296C>T (p.Asn432=)
|
rs544224850
|
0.00017
|
|
NM_004415.4(DSP):c.2121C>T (p.Asn707=)
|
rs368590198
|
0.00017
|
|
NM_004415.4(DSP):c.3153C>T (p.Asn1051=)
|
rs563387839
|
0.00017
|
|
NM_006073.4(TRDN):c.1215A>G (p.Glu405=)
|
rs939674538
|
0.00017
|
|
NM_006073.4(TRDN):c.419A>G (p.Lys140Arg)
|
rs200953683
|
0.00017
|
|
NM_024334.3(TMEM43):c.361A>G (p.Met121Val)
|
rs369878538
|
0.00017
|
|
NM_024334.3(TMEM43):c.443-9C>T
|
rs371866082
|
0.00017
|
|
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys)
|
rs193922377
|
0.00016
|
|
NM_001005242.3(PKP2):c.1379-2068C>T
|
rs377424658
|
0.00016
|
|
NM_001005242.3(PKP2):c.1504G>A (p.Ala502Thr)
|
rs368740836
|
0.00016
|
|
NM_001005242.3(PKP2):c.176A>T (p.Gln59Leu)
|
rs730880179
|
0.00016
|
|
NM_001005242.3(PKP2):c.1888G>A (p.Val630Met)
|
rs143038626
|
0.00016
|
|
NM_001005242.3(PKP2):c.1951C>T (p.Arg651Cys)
|
rs199583774
|
0.00016
|
|
NM_001005242.3(PKP2):c.307C>A (p.Pro103Thr)
|
rs139215336
|
0.00016
|
|
NM_001005242.3(PKP2):c.336+17T>G
|
rs185681814
|
0.00016
|
|
NM_001035.3(RYR2):c.*1329C>G
|
rs749767730
|
0.00016
|
|
NM_001035.3(RYR2):c.10962A>C (p.Glu3654Asp)
|
rs547005691
|
0.00016
|
|
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn)
|
rs193922623
|
0.00016
|
|
NM_001035.3(RYR2):c.2711A>G (p.Tyr904Cys)
|
rs201131315
|
0.00016
|
|
NM_001035.3(RYR2):c.2755G>A (p.Val919Met)
|
rs201079716
|
0.00016
|
|
NM_001035.3(RYR2):c.4445G>A (p.Arg1482His)
|
rs373024059
|
0.00016
|
|
NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser)
|
rs185237690
|
0.00016
|
|
NM_001035.3(RYR2):c.7075C>A (p.Arg2359=)
|
rs200921429
|
0.00016
|
|
NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp)
|
rs200420897
|
0.00016
|
|
NM_001035.3(RYR2):c.8592A>G (p.Gly2864=)
|
rs763801208
|
0.00016
|
|
NM_001232.4(CASQ2):c.1087G>A (p.Glu363Lys)
|
rs1193520667
|
0.00016
|
|
NM_001232.4(CASQ2):c.177G>A (p.Pro59=)
|
rs371260149
|
0.00016
|
|
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu)
|
rs72629783
|
0.00016
|
|
NM_001267550.2(TTN):c.36936A>T (p.Lys12312Asn)
|
rs765517955
|
0.00016
|
|
NM_001943.5(DSG2):c.*2034C>T
|
rs886053738
|
0.00016
|
|
NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg)
|
rs201564919
|
0.00016
|
|
NM_001943.5(DSG2):c.2434G>A (p.Gly812Ser)
|
rs121913010
|
0.00016
|
|
NM_001943.5(DSG2):c.783T>A (p.Arg261=)
|
rs369869320
|
0.00016
|
|
NM_002230.4(JUP):c.1172G>A (p.Ser391Asn)
|
rs199826380
|
0.00016
|
|
NM_002230.4(JUP):c.1924+8G>C
|
rs730880115
|
0.00016
|
|
NM_002230.4(JUP):c.2178C>T (p.Ile726=)
|
rs141295561
|
0.00016
|
|
NM_002230.4(JUP):c.527G>A (p.Arg176Gln)
|
rs144171604
|
0.00016
|
|
NM_004415.4(DSP):c.-157G>A
|
rs886061742
|
0.00016
|
|
NM_004415.4(DSP):c.1949A>G (p.Asn650Ser)
|
rs145650440
|
0.00016
|
|
NM_004415.4(DSP):c.2468C>T (p.Ser823Leu)
|
rs141834182
|
0.00016
|
|
NM_004415.4(DSP):c.3706A>G (p.Arg1236Gly)
|
rs377098318
|
0.00016
|
|
NM_004415.4(DSP):c.4775A>G (p.Lys1592Arg)
|
rs200421954
|
0.00016
|
|
NM_004415.4(DSP):c.6479G>A (p.Arg2160Gln)
|
rs146642551
|
0.00016
|
|
NM_004415.4(DSP):c.7599T>C (p.Ala2533=)
|
rs374266378
|
0.00016
|
|
NM_004415.4(DSP):c.8482G>A (p.Gly2828Ser)
|
rs369682599
|
0.00016
|
|
NM_004415.4(DSP):c.943C>T (p.Arg315Cys)
|
rs200476515
|
0.00016
|
|
NM_006073.4(TRDN):c.1282C>T (p.Arg428Ter)
|
rs202219343
|
0.00016
|
|
NM_006073.4(TRDN):c.85G>A (p.Gly29Arg)
|
rs763469367
|
0.00016
|
|
NM_013266.4(CTNNA3):c.1421C>T (p.Ala474Val)
|
rs201810511
|
0.00016
|
|
NM_013266.4(CTNNA3):c.718A>G (p.Thr240Ala)
|
rs367570454
|
0.00016
|
|
NM_024422.6(DSC2):c.1766T>C (p.Met589Thr)
|
rs201856473
|
0.00016
|
|
NM_024422.6(DSC2):c.2471C>T (p.Ser824Leu)
|
rs143413607
|
0.00016
|
|
NM_170707.4(LMNA):c.1657G>A (p.Asp553Asn)
|
rs373671419
|
0.00016
|
|
NM_001005242.3(PKP2):c.195C>T (p.Ala65=)
|
rs397517014
|
0.00015
|
|
NM_001005242.3(PKP2):c.2301C>T (p.Arg767=)
|
rs369166666
|
0.00015
|
|
NM_001005242.3(PKP2):c.805G>A (p.Gly269Arg)
|
rs757285245
|
0.00015
|
|
NM_001032283.3(TMPO):c.565+2376C>T
|
rs202035749
|
0.00015
|
|
NM_001035.3(RYR2):c.*142C>T
|
rs552725083
|
0.00015
|
|
NM_001035.3(RYR2):c.6022+5G>A
|
rs376389213
|
0.00015
|
|
NM_001943.5(DSG2):c.*1263C>T
|
rs192887371
|
0.00015
|
|
NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys)
|
rs371146201
|
0.00015
|
|
NM_002230.4(JUP):c.*413C>T
|
rs559600252
|
0.00015
|
|
NM_002230.4(JUP):c.2086+13C>T
|
rs199935213
|
0.00015
|
|
NM_006073.4(TRDN):c.239C>T (p.Ser80Phe)
|
rs181287533
|
0.00015
|
|
NM_013266.4(CTNNA3):c.457G>C (p.Ala153Pro)
|
rs147116577
|
0.00015
|
|
NM_024422.6(DSC2):c.1521-7C>T
|
rs374810953
|
0.00015
|
|
NM_024422.6(DSC2):c.2019C>T (p.Thr673=)
|
rs201469817
|
0.00015
|
|
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys)
|
rs61094188
|
0.00015
|
|
NM_001005242.3(PKP2):c.1171-17A>G
|
rs372942306
|
0.00014
|
|
NM_001005242.3(PKP2):c.1379-2006C>T
|
rs1460366599
|
0.00014
|
|
NM_001005242.3(PKP2):c.1379-2066C>T
|
rs373399921
|
0.00014
|
|
NM_001035.3(RYR2):c.10523T>C (p.Ile3508Thr)
|
rs115622575
|
0.00014
|
|
NM_001035.3(RYR2):c.1476+4C>T
|
rs369442980
|
0.00014
|
|
NM_001035.3(RYR2):c.3152G>A (p.Arg1051His)
|
rs79457258
|
0.00014
|
|
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg)
|
rs200450676
|
0.00014
|
|
NM_001035.3(RYR2):c.4747C>T (p.Pro1583Ser)
|
rs200070226
|
0.00014
|
|
NM_001035.3(RYR2):c.8367T>C (p.Ile2789=)
|
rs563219502
|
0.00014
|
|
NM_001035.3(RYR2):c.8378G>A (p.Arg2793Gln)
|
rs559773178
|
0.00014
|
|
NM_001035.3(RYR2):c.8830+17C>T
|
rs1042309310
|
0.00014
|
|
NM_001232.4(CASQ2):c.338G>A (p.Ser113Asn)
|
rs199750975
|
0.00014
|
|
NM_001943.5(DSG2):c.*422C>T
|
rs886053722
|
0.00014
|
|
NM_001943.5(DSG2):c.*696G>A
|
rs773284085
|
0.00014
|
|
NM_001943.5(DSG2):c.3353C>T (p.Ser1118Phe)
|
rs368703304
|
0.00014
|
|
NM_001943.5(DSG2):c.430G>A (p.Glu144Lys)
|
rs199842209
|
0.00014
|
|
NM_002230.4(JUP):c.708-4C>G
|
rs201313464
|
0.00014
|
|
NM_002230.4(JUP):c.801C>T (p.Ala267=)
|
rs138397457
|
0.00014
|
|
NM_002230.4(JUP):c.84G>A (p.Ser28=)
|
rs144137028
|
0.00014
|
|
NM_003239.5(TGFB3):c.-547dup
|
rs886050802
|
0.00014
|
|
NM_004415.3(DSP):c.-281C>T
|
rs547069600
|
0.00014
|
|
NM_004415.4(DSP):c.1534A>G (p.Ile512Val)
|
rs202025438
|
0.00014
|
|
NM_004415.4(DSP):c.242G>A (p.Cys81Tyr)
|
rs140965835
|
0.00014
|
|
NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln)
|
rs138907450
|
0.00014
|
|
NM_004415.4(DSP):c.521G>T (p.Cys174Phe)
|
rs377507763
|
0.00014
|
|
NM_004415.4(DSP):c.6192T>C (p.Asn2064=)
|
rs371230455
|
0.00014
|
|
NM_004415.4(DSP):c.889G>A (p.Asp297Asn)
|
rs201930322
|
0.00014
|
|
NM_013266.4(CTNNA3):c.1374+10C>T
|
rs375506184
|
0.00014
|
|
NM_013266.4(CTNNA3):c.1848A>T (p.Thr616=)
|
rs182490263
|
0.00014
|
|
NM_013266.4(CTNNA3):c.1977+18G>C
|
rs574293198
|
0.00014
|
|
NM_013266.4(CTNNA3):c.2066C>T (p.Ala689Val)
|
rs150734357
|
0.00014
|
|
NM_013266.4(CTNNA3):c.768A>G (p.Ser256=)
|
rs140926333
|
0.00014
|
|
NM_024334.3(TMEM43):c.280G>A (p.Ala94Thr)
|
rs369142200
|
0.00014
|
|
NM_024334.3(TMEM43):c.864C>T (p.His288=)
|
rs377585035
|
0.00014
|
|
NM_024422.6(DSC2):c.*2029A>T
|
rs548041881
|
0.00014
|
|
NM_024422.6(DSC2):c.2226A>G (p.Thr742=)
|
rs142807209
|
0.00014
|
|
NM_001005242.3(PKP2):c.1379-2018G>A
|
rs369518480
|
0.00013
|
|
NM_001005242.3(PKP2):c.1509T>C (p.Asn503=)
|
rs143782040
|
0.00013
|
|
NM_001005242.3(PKP2):c.1842A>G (p.Gln614=)
|
rs138901574
|
0.00013
|
|
NM_001035.3(RYR2):c.11811C>T (p.His3937=)
|
rs370924416
|
0.00013
|
|
NM_001035.3(RYR2):c.14703G>C (p.Val4901=)
|
rs201371633
|
0.00013
|
|
NM_001035.3(RYR2):c.3067-15T>C
|
rs185110433
|
0.00013
|
|
NM_001035.3(RYR2):c.3153C>T (p.Arg1051=)
|
rs397516524
|
0.00013
|
|
NM_001035.3(RYR2):c.3251G>A (p.Arg1084Lys)
|
rs193922624
|
0.00013
|
|
NM_001035.3(RYR2):c.3951G>A (p.Thr1317=)
|
rs372097270
|
0.00013
|
|
NM_001035.3(RYR2):c.4911-19A>G
|
rs140517111
|
0.00013
|
|
NM_001035.3(RYR2):c.5373C>A (p.Thr1791=)
|
rs765283048
|
0.00013
|
|
NM_001035.3(RYR2):c.7062C>T (p.Ala2354=)
|
rs182038403
|
0.00013
|
|
NM_001035.3(RYR2):c.9963G>A (p.Pro3321=)
|
rs199730192
|
0.00013
|
|
NM_001232.4(CASQ2):c.533-6C>T
|
rs545407254
|
0.00013
|
|
NM_001267550.2(TTN):c.33059A>G (p.Tyr11020Cys)
|
rs72650035
|
0.00013
|
|
NM_001943.5(DSG2):c.148G>A (p.Ala50Thr)
|
rs1267795586
|
0.00013
|
|
NM_001943.5(DSG2):c.2744G>C (p.Arg915Thr)
|
rs375358300
|
0.00013
|
|
NM_001943.5(DSG2):c.45+9C>G
|
rs376573409
|
0.00013
|
|
NM_001943.5(DSG2):c.545A>G (p.Asn182Ser)
|
rs368512832
|
0.00013
|
|
NM_002230.4(JUP):c.1365C>T (p.Ala455=)
|
rs77375949
|
0.00013
|
|
NM_002230.4(JUP):c.545C>T (p.Ser182Leu)
|
rs145592971
|
0.00013
|
|
NM_003239.5(TGFB3):c.1169A>T (p.Tyr390Phe)
|
rs996297395
|
0.00013
|
|
NM_004415.4(DSP):c.*577G>A
|
rs886061755
|
0.00013
|
|
NM_004415.4(DSP):c.1575-15C>G
|
rs369184165
|
0.00013
|
|
NM_004415.4(DSP):c.251G>A (p.Arg84Gln)
|
rs373736975
|
0.00013
|
|
NM_004415.4(DSP):c.2552T>A (p.Leu851Gln)
|
rs111368396
|
0.00013
|
|
NM_004415.4(DSP):c.2774G>A (p.Arg925Gln)
|
rs139799237
|
0.00013
|
|
NM_004415.4(DSP):c.3562T>C (p.Tyr1188His)
|
rs141508330
|
0.00013
|
|
NM_004415.4(DSP):c.4386C>T (p.Ser1462=)
|
rs149981214
|
0.00013
|
|
NM_006073.4(TRDN):c.1627C>A (p.Gln543Lys)
|
rs9398723
|
0.00013
|
|
NM_006073.4(TRDN):c.591A>C (p.Glu197Asp)
|
rs751143632
|
0.00013
|
|
NM_013266.4(CTNNA3):c.2501G>T (p.Arg834Leu)
|
rs373081692
|
0.00013
|
|
NM_024334.3(TMEM43):c.718C>T (p.Arg240Cys)
|
rs367910936
|
0.00013
|
|
NM_024422.6(DSC2):c.*1158A>G
|
rs749440073
|
0.00013
|
|
NM_024422.6(DSC2):c.1788G>A (p.Ala596=)
|
rs146161960
|
0.00013
|
|
NM_024422.6(DSC2):c.2298G>C (p.Gln766His)
|
rs139558481
|
0.00013
|
|
NM_024422.6(DSC2):c.547C>T (p.Arg183Trp)
|
rs368082152
|
0.00013
|
|
NM_024422.6(DSC2):c.734A>C (p.Glu245Ala)
|
rs373201722
|
0.00013
|
|
NM_001005242.3(PKP2):c.1379-2005A>G
|
rs397516995
|
0.00012
|
|
NM_001005242.3(PKP2):c.1540G>A (p.Val514Ile)
|
rs376102257
|
0.00012
|
|
NM_001005242.3(PKP2):c.306C>A (p.Ser102=)
|
rs376613662
|
0.00012
|
|
NM_001005242.3(PKP2):c.682G>A (p.Asp228Asn)
|
rs143954425
|
0.00012
|
|
NM_001035.3(RYR2):c.6280G>A (p.Gly2094Ser)
|
rs777365708
|
0.00012
|
|
NM_001035.3(RYR2):c.7824+20G>A
|
rs373240466
|
0.00012
|
|
NM_001943.5(DSG2):c.*1071T>C
|
rs183684674
|
0.00012
|
|
NM_001943.5(DSG2):c.*1596T>C
|
rs549396103
|
0.00012
|
|
NM_001943.5(DSG2):c.*847T>C
|
rs930886277
|
0.00012
|
|
NM_001943.5(DSG2):c.3283C>A (p.His1095Asn)
|
rs140193292
|
0.00012
|
|
NM_001943.5(DSG2):c.81+17A>G
|
rs547399759
|
0.00012
|
|
NM_002230.4(JUP):c.1959C>T (p.Ser653=)
|
rs375451560
|
0.00012
|
|
NM_004415.4(DSP):c.*289C>T
|
rs886061749
|
0.00012
|
|
NM_004415.4(DSP):c.2037A>G (p.Ile679Met)
|
rs151049942
|
0.00012
|
|
NM_004415.4(DSP):c.2134G>A (p.Val712Met)
|
rs397516922
|
0.00012
|
|
NM_004415.4(DSP):c.3600T>G (p.Asn1200Lys)
|
rs202049575
|
0.00012
|
|
NM_004415.4(DSP):c.7125G>A (p.Gly2375=)
|
rs141709096
|
0.00012
|
|
NM_006073.4(TRDN):c.300G>A (p.Thr100=)
|
rs377393927
|
0.00012
|
|
NM_013266.4(CTNNA3):c.832G>A (p.Asp278Asn)
|
rs143693772
|
0.00012
|
|
NM_001005242.3(PKP2):c.*303A>G
|
rs148693924
|
0.00011
|
|
NM_001005242.3(PKP2):c.1323G>T (p.Arg441=)
|
rs3748278
|
0.00011
|
|
NM_001005242.3(PKP2):c.1740G>T (p.Glu580Asp)
|
rs370219248
|
0.00011
|
|
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro)
|
rs144601090
|
0.00011
|
|
NM_001005242.3(PKP2):c.2392G>A (p.Val798Ile)
|
rs368633311
|
0.00011
|
|
NM_001035.3(RYR2):c.*1152G>A
|
rs551419848
|
0.00011
|
|
NM_001035.3(RYR2):c.10221G>A (p.Ser3407=)
|
rs373769240
|
0.00011
|
|
NM_001035.3(RYR2):c.10700G>A (p.Arg3567His)
|
rs577371071
|
0.00011
|
|
NM_001035.3(RYR2):c.14808+3A>G
|
rs377491955
|
0.00011
|
|
NM_001035.3(RYR2):c.2630A>C (p.His877Pro)
|
rs561321743
|
0.00011
|
|
NM_001035.3(RYR2):c.402C>T (p.Ser134=)
|
rs776832019
|
0.00011
|
|
NM_001035.3(RYR2):c.4096A>G (p.Thr1366Ala)
|
rs369982130
|
0.00011
|
|
NM_001035.3(RYR2):c.6793-3C>T
|
rs372314209
|
0.00011
|
|
NM_001035.3(RYR2):c.7099G>A (p.Gly2367Arg)
|
rs369152386
|
0.00011
|
|
NM_001035.3(RYR2):c.7542G>A (p.Leu2514=)
|
rs371088367
|
0.00011
|
|
NM_001035.3(RYR2):c.8208+15A>G
|
rs142975943
|
0.00011
|
|
NM_001035.3(RYR2):c.8419A>G (p.Ile2807Val)
|
rs1394059438
|
0.00011
|
|
NM_001035.3(RYR2):c.9655G>A (p.Val3219Met)
|
rs371147744
|
0.00011
|
|
NM_001232.3(CASQ2):c.-225G>A
|
rs535999427
|
0.00011
|
|
NM_001232.4(CASQ2):c.421-18G>C
|
rs202228431
|
0.00011
|
|
NM_001232.4(CASQ2):c.421-20A>T
|
rs201559752
|
0.00011
|
|
NM_001232.4(CASQ2):c.540G>A (p.Lys180=)
|
rs72554057
|
0.00011
|
|
NM_001943.5(DSG2):c.*1803A>G
|
rs147816088
|
0.00011
|
|
NM_001943.5(DSG2):c.1299T>C (p.Asp433=)
|
rs367548984
|
0.00011
|
|
NM_001943.5(DSG2):c.1478A>G (p.Asn493Ser)
|
rs375679311
|
0.00011
|
|
NM_001943.5(DSG2):c.2360A>G (p.Asp787Gly)
|
rs369868954
|
0.00011
|
|
NM_001943.5(DSG2):c.2506C>G (p.Leu836Val)
|
rs767979763
|
0.00011
|
|
NM_002230.4(JUP):c.1159-20G>A
|
rs782463183
|
0.00011
|
|
NM_002230.4(JUP):c.1989C>T (p.Arg663=)
|
rs145175985
|
0.00011
|
|
NM_002230.4(JUP):c.352G>A (p.Glu118Lys)
|
rs149004293
|
0.00011
|
|
NM_003239.5(TGFB3):c.757G>A (p.Val253Met)
|
rs532517095
|
0.00011
|
|
NM_004415.4(DSP):c.1483G>A (p.Val495Met)
|
rs372014020
|
0.00011
|
|
NM_004415.4(DSP):c.237C>T (p.Ser79=)
|
rs146521568
|
0.00011
|
|
NM_004415.4(DSP):c.3646A>G (p.Ile1216Val)
|
rs199795359
|
0.00011
|
|
NM_004415.4(DSP):c.5744G>A (p.Arg1915His)
|
rs146617683
|
0.00011
|
|
NM_004415.4(DSP):c.6360C>T (p.Thr2120=)
|
rs374252141
|
0.00011
|
|
NM_004415.4(DSP):c.6566G>A (p.Arg2189Gln)
|
rs766933370
|
0.00011
|
|
NM_004415.4(DSP):c.6753G>A (p.Lys2251=)
|
rs750294829
|
0.00011
|
|
NM_004415.4(DSP):c.6799A>T (p.Thr2267Ser)
|
rs181378432
|
0.00011
|
|
NM_004415.4(DSP):c.687C>T (p.Gly229=)
|
rs112877191
|
0.00011
|
|
NM_004415.4(DSP):c.816G>A (p.Leu272=)
|
rs376184294
|
0.00011
|
|
NM_004415.4(DSP):c.8173C>T (p.Arg2725Cys)
|
rs141078292
|
0.00011
|
|
NM_004415.4(DSP):c.897C>T (p.Ser299=)
|
rs121912992
|
0.00011
|
|
NM_006073.4(TRDN):c.129G>A (p.Thr43=)
|
rs373840513
|
0.00011
|
|
NM_006073.4(TRDN):c.23-19T>G
|
rs370102595
|
0.00011
|
|
NM_006073.4(TRDN):c.365A>G (p.Asp122Gly)
|
rs749353413
|
0.00011
|
|
NM_006073.4(TRDN):c.510A>G (p.Gly170=)
|
rs773658957
|
0.00011
|
|
NM_013266.4(CTNNA3):c.1231A>G (p.Ile411Val)
|
rs372808360
|
0.00011
|
|
NM_013266.4(CTNNA3):c.1303A>G (p.Met435Val)
|
rs377404952
|
0.00011
|
|
NM_013266.4(CTNNA3):c.1628G>A (p.Arg543Gln)
|
rs369033938
|
0.00011
|
|
NM_013266.4(CTNNA3):c.1692G>A (p.Thr564=)
|
rs138798862
|
0.00011
|
|
NM_013266.4(CTNNA3):c.1732+8A>G
|
rs372686443
|
0.00011
|
|
NM_013266.4(CTNNA3):c.2006A>T (p.Glu669Val)
|
rs377166040
|
0.00011
|
|
NM_013266.4(CTNNA3):c.578A>G (p.Gln193Arg)
|
rs373233387
|
0.00011
|
|
NM_017636.4(TRPM4):c.1139C>T (p.Ala380Val)
|
rs150894548
|
0.00011
|
|
NM_024334.3(TMEM43):c.429G>A (p.Thr143=)
|
rs201217046
|
0.00011
|
|
NM_024334.3(TMEM43):c.91G>A (p.Glu31Lys)
|
rs754536393
|
0.00011
|
|
NM_024422.6(DSC2):c.*1408A>G
|
rs539091896
|
0.00011
|
|
NM_024422.6(DSC2):c.*753T>G
|
rs940327323
|
0.00011
|
|
NM_024422.6(DSC2):c.1070G>A (p.Arg357His)
|
rs201201194
|
0.00011
|
|
NM_024422.6(DSC2):c.630+8C>T
|
rs201147144
|
0.00011
|
|
NM_001005242.3(PKP2):c.*932C>A
|
rs766792445
|
0.00010
|
|
NM_001005242.3(PKP2):c.45C>T (p.Thr15=)
|
rs759214983
|
0.00010
|
|
NM_001005242.3(PKP2):c.826C>T (p.Pro276Ser)
|
rs201944276
|
0.00010
|
|
NM_001035.3(RYR2):c.12114T>C (p.Asp4038=)
|
rs368103385
|
0.00010
|
|
NM_001035.3(RYR2):c.13267A>C (p.Lys4423Gln)
|
rs376908332
|
0.00010
|
|
NM_001035.3(RYR2):c.13957-5C>G
|
rs189772599
|
0.00010
|
|
NM_001035.3(RYR2):c.2357G>A (p.Gly786Asp)
|
rs182778119
|
0.00010
|
|
NM_001035.3(RYR2):c.3883A>G (p.Ser1295Gly)
|
rs200574919
|
0.00010
|
|
NM_001035.3(RYR2):c.4069G>C (p.Asp1357His)
|
rs193922626
|
0.00010
|
|
NM_001035.3(RYR2):c.4094C>T (p.Ala1365Val)
|
rs373261115
|
0.00010
|
|
NM_001035.3(RYR2):c.5571G>A (p.Pro1857=)
|
rs371934582
|
0.00010
|
|
NM_001035.3(RYR2):c.8590+4A>G
|
rs778964264
|
0.00010
|
|
NM_001035.3(RYR2):c.9067+10C>T
|
rs372631657
|
0.00010
|
|
NM_001035.3(RYR2):c.9068-20G>T
|
rs766109127
|
0.00010
|
|
NM_001035.3(RYR2):c.9190G>A (p.Ala3064Thr)
|
rs375482798
|
0.00010
|
|
NM_001035.3(RYR2):c.9368-12C>T
|
rs559526695
|
0.00010
|
|
NM_001232.4(CASQ2):c.1186G>A (p.Asp396Asn)
|
rs368007942
|
0.00010
|
|
NM_001943.5(DSG2):c.1597G>A (p.Val533Ile)
|
rs199761749
|
0.00010
|
|
NM_001943.5(DSG2):c.2643C>T (p.Thr881=)
|
rs180695545
|
0.00010
|
|
NM_001943.5(DSG2):c.523+20T>C
|
rs775127367
|
0.00010
|
|
NM_002230.4(JUP):c.-55C>T
|
rs886052921
|
0.00010
|
|
NM_002230.4(JUP):c.1565C>T (p.Ala522Val)
|
rs1060502679
|
0.00010
|
|
NM_002230.4(JUP):c.1654-7C>T
|
rs1395283149
|
0.00010
|
|
NM_002230.4(JUP):c.608G>A (p.Arg203His)
|
rs200221163
|
0.00010
|
|
NM_002230.4(JUP):c.707+20G>A
|
rs782523305
|
0.00010
|
|
NM_002230.4(JUP):c.926A>G (p.Asn309Ser)
|
rs140606359
|
0.00010
|
|
NM_004415.4(DSP):c.1140+6T>C
|
rs534740669
|
0.00010
|
|
NM_004415.4(DSP):c.3146C>T (p.Ser1049Leu)
|
rs751361395
|
0.00010
|
|
NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile)
|
rs151115778
|
0.00010
|
|
NM_004415.4(DSP):c.3922C>T (p.Arg1308Trp)
|
rs144641271
|
0.00010
|
|
NM_004415.4(DSP):c.4780C>T (p.Leu1594=)
|
rs149463707
|
0.00010
|
|
NM_004415.4(DSP):c.4992G>C (p.Leu1664=)
|
rs772302453
|
0.00010
|
|
NM_004415.4(DSP):c.5304G>C (p.Gly1768=)
|
rs530612211
|
0.00010
|
|
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu)
|
rs149513743
|
0.00010
|
|
NM_004415.4(DSP):c.7278T>C (p.Tyr2426=)
|
rs78843072
|
0.00010
|
|
NM_004415.4(DSP):c.8493G>C (p.Ser2831=)
|
rs397516969
|
0.00010
|
|
NM_004415.4(DSP):c.987G>A (p.Leu329=)
|
rs564435126
|
0.00010
|
|
NM_006073.4(TRDN):c.125C>T (p.Thr42Met)
|
rs371627659
|
0.00010
|
|
NM_006073.4(TRDN):c.1951+6C>A
|
rs781510666
|
0.00010
|
|
NM_006073.4(TRDN):c.2093A>G (p.Asn698Ser)
|
rs377368177
|
0.00010
|
|
NM_013266.4(CTNNA3):c.1219C>T (p.Arg407Trp)
|
rs138643733
|
0.00010
|
|
NM_013266.4(CTNNA3):c.1850T>C (p.Ile617Thr)
|
rs190239785
|
0.00010
|
|
NM_013266.4(CTNNA3):c.2211G>C (p.Met737Ile)
|
rs192848934
|
0.00010
|
|
NM_013266.4(CTNNA3):c.2482G>A (p.Ala828Thr)
|
rs753950562
|
0.00010
|
|
NM_013266.4(CTNNA3):c.2550G>A (p.Met850Ile)
|
rs138237676
|
0.00010
|
|
NM_016203.4(PRKAG2):c.425C>T (p.Thr142Ile)
|
rs397517270
|
0.00010
|
|
NM_024334.3(TMEM43):c.169G>A (p.Ala57Thr)
|
rs151010429
|
0.00010
|
|
NM_024422.6(DSC2):c.1721G>A (p.Ser574Asn)
|
rs150318400
|
0.00010
|
|
NM_024422.6(DSC2):c.1844C>A (p.Ser615Tyr)
|
rs756304120
|
0.00010
|
|
NM_024422.6(DSC2):c.2314G>A (p.Val772Met)
|
rs146029947
|
0.00010
|
|
NM_001005242.3(PKP2):c.1379-2065G>A
|
rs771856087
|
0.00009
|
|
NM_001005242.3(PKP2):c.2302G>A (p.Asp768Asn)
|
rs200947767
|
0.00009
|
|
NM_001005242.3(PKP2):c.996G>A (p.Leu332=)
|
rs144574595
|
0.00009
|
|
NM_001035.3(RYR2):c.10680T>A (p.His3560Gln)
|
rs727503404
|
0.00009
|
|
NM_001035.3(RYR2):c.13069G>A (p.Ala4357Thr)
|
rs747622318
|
0.00009
|
|
NM_001035.3(RYR2):c.14101A>G (p.Ile4701Val)
|
rs755065507
|
0.00009
|
|
NM_001035.3(RYR2):c.2828T>C (p.Leu943Ser)
|
rs373665895
|
0.00009
|
|
NM_001035.3(RYR2):c.3598+13T>C
|
rs145104355
|
0.00009
|
|
NM_001035.3(RYR2):c.4044G>A (p.Lys1348=)
|
rs755391572
|
0.00009
|
|
NM_001035.3(RYR2):c.4273A>G (p.Thr1425Ala)
|
rs776046135
|
0.00009
|
|
NM_001035.3(RYR2):c.463+9C>T
|
rs559545973
|
0.00009
|
|
NM_001035.3(RYR2):c.4800C>T (p.Pro1600=)
|
rs546340378
|
0.00009
|
|
NM_001035.3(RYR2):c.5600A>C (p.Glu1867Ala)
|
rs539021736
|
0.00009
|
|
NM_001035.3(RYR2):c.5754C>T (p.Val1918=)
|
rs397516545
|
0.00009
|
|
NM_001035.3(RYR2):c.5756G>A (p.Arg1919Gln)
|
rs199893812
|
0.00009
|
|
NM_001035.3(RYR2):c.639C>T (p.Ser213=)
|
rs375180398
|
0.00009
|
|
NM_001035.3(RYR2):c.6441-8C>G
|
rs770177812
|
0.00009
|
|
NM_001035.3(RYR2):c.7083T>C (p.Gly2361=)
|
rs749474378
|
0.00009
|
|
NM_001035.3(RYR2):c.7094A>G (p.Asn2365Ser)
|
rs369774984
|
0.00009
|
|
NM_001035.3(RYR2):c.7511C>T (p.Thr2504Met)
|
rs769219555
|
0.00009
|
|
NM_001035.3(RYR2):c.7689A>G (p.Lys2563=)
|
rs201082550
|
0.00009
|
|
NM_001035.3(RYR2):c.9129-9A>G
|
rs992812963
|
0.00009
|
|
NM_001232.4(CASQ2):c.*457C>T
|
rs375002557
|
0.00009
|
|
NM_001232.4(CASQ2):c.235C>T (p.Leu79Phe)
|
rs771298193
|
0.00009
|
|
NM_001232.4(CASQ2):c.80C>T (p.Thr27Ile)
|
rs773237428
|
0.00009
|
|
NM_001232.4(CASQ2):c.898G>A (p.Asp300Asn)
|
rs376147306
|
0.00009
|
|
NM_001792.5(CDH2):c.1306G>A (p.Asp436Asn)
|
rs142861371
|
0.00009
|
|
NM_001943.5(DSG2):c.*425T>C
|
rs192049697
|
0.00009
|
|
NM_001943.5(DSG2):c.147C>T (p.Arg49=)
|
rs531036279
|
0.00009
|
|
NM_001943.5(DSG2):c.2096G>T (p.Ser699Ile)
|
rs727504770
|
0.00009
|
|
NM_001943.5(DSG2):c.379-3C>T
|
rs376556524
|
0.00009
|
|
NM_002230.3(JUP):c.*1136C>T
|
rs539534709
|
0.00009
|
|
NM_002230.4(JUP):c.1372G>A (p.Ala458Thr)
|
rs139559495
|
0.00009
|
|
NM_002230.4(JUP):c.1862T>C (p.Ile621Thr)
|
rs752594411
|
0.00009
|
|
NM_002230.4(JUP):c.578T>C (p.Met193Thr)
|
rs139496777
|
0.00009
|
|
NM_002230.4(JUP):c.892G>A (p.Gly298Ser)
|
rs199597864
|
0.00009
|
|
NM_003239.5(TGFB3):c.*185C>T
|
rs3917216
|
0.00009
|
|
NM_004415.4(DSP):c.*58T>C
|
rs753281894
|
0.00009
|
|
NM_004415.4(DSP):c.2799G>C (p.Leu933Phe)
|
rs372922674
|
0.00009
|
|
NM_004415.4(DSP):c.3096C>T (p.Thr1032=)
|
rs139199849
|
0.00009
|
|
NM_004415.4(DSP):c.3981C>T (p.Ile1327=)
|
rs397516934
|
0.00009
|
|
NM_004415.4(DSP):c.4175G>A (p.Arg1392Gln)
|
rs201736018
|
0.00009
|
|
NM_004415.4(DSP):c.424C>T (p.Leu142Phe)
|
rs373769397
|
0.00009
|
|
NM_004415.4(DSP):c.4750G>A (p.Ala1584Thr)
|
rs191778417
|
0.00009
|
|
NM_004415.4(DSP):c.5513G>A (p.Arg1838His)
|
rs377715841
|
0.00009
|
|
NM_004415.4(DSP):c.5523A>C (p.Ser1841=)
|
rs730882116
|
0.00009
|
|
NM_004415.4(DSP):c.5617C>T (p.Arg1873Cys)
|
rs144392839
|
0.00009
|
|
NM_004415.4(DSP):c.5796C>G (p.Arg1932=)
|
rs148845182
|
0.00009
|
|
NM_004415.4(DSP):c.667G>A (p.Gly223Ser)
|
rs200806163
|
0.00009
|
|
NM_004415.4(DSP):c.7077C>T (p.Ile2359=)
|
rs966841386
|
0.00009
|
|
NM_004415.4(DSP):c.7852C>T (p.Pro2618Ser)
|
rs376005629
|
0.00009
|
|
NM_004415.4(DSP):c.8544A>C (p.Gly2848=)
|
rs201876903
|
0.00009
|
|
NM_006073.4(TRDN):c.1808G>C (p.Gly603Ala)
|
rs766406818
|
0.00009
|
|
NM_006073.4(TRDN):c.1951+15C>T
|
rs370036052
|
0.00009
|
|
NM_006073.4(TRDN):c.727A>G (p.Thr243Ala)
|
rs376208769
|
0.00009
|
|
NM_006073.4(TRDN):c.884C>T (p.Pro295Leu)
|
rs201899630
|
0.00009
|
|
NM_006073.4(TRDN):c.932-11G>T
|
rs954424960
|
0.00009
|
|
NM_013266.4(CTNNA3):c.1175C>T (p.Thr392Met)
|
rs146777494
|
0.00009
|
|
NM_013266.4(CTNNA3):c.1507A>C (p.Ile503Leu)
|
rs147802834
|
0.00009
|
|
NM_013266.4(CTNNA3):c.1604G>A (p.Arg535His)
|
rs139378888
|
0.00009
|
|
NM_013266.4(CTNNA3):c.1790C>T (p.Ser597Leu)
|
rs780346090
|
0.00009
|
|
NM_013266.4(CTNNA3):c.1978-9A>G
|
rs771655401
|
0.00009
|
|
NM_013266.4(CTNNA3):c.1978-9_1978-8del
|
rs750667259
|
0.00009
|
|
NM_013266.4(CTNNA3):c.1979C>T (p.Ala660Val)
|
rs778640435
|
0.00009
|
|
NM_013266.4(CTNNA3):c.399G>A (p.Thr133=)
|
rs150376558
|
0.00009
|
|
NM_013266.4(CTNNA3):c.448C>T (p.His150Tyr)
|
rs368622093
|
0.00009
|
|
NM_024334.3(TMEM43):c.271A>G (p.Ile91Val)
|
rs144811578
|
0.00009
|
|
NM_024334.3(TMEM43):c.865G>A (p.Gly289Arg)
|
rs730880226
|
0.00009
|
|
NM_024422.6(DSC2):c.-25C>G
|
rs904308285
|
0.00009
|
|
NM_024422.6(DSC2):c.1802A>C (p.Glu601Ala)
|
rs537381028
|
0.00009
|
|
NM_024422.6(DSC2):c.2251-5T>G
|
rs374262463
|
0.00009
|
|
NM_024422.6(DSC2):c.23G>T (p.Gly8Val)
|
rs794728063
|
0.00009
|
|
NM_024422.6(DSC2):c.82G>T (p.Ala28Ser)
|
rs139979318
|
0.00009
|
|
NM_024422.6(DSC2):c.951C>T (p.Asp317=)
|
rs749810775
|
0.00009
|
|
NM_001005242.3(PKP2):c.1379-2038T>C
|
rs781397552
|
0.00008
|
|
NM_001005242.3(PKP2):c.194C>T (p.Ala65Val)
|
rs139924723
|
0.00008
|
|
NM_001005242.3(PKP2):c.888C>T (p.His296=)
|
rs397517029
|
0.00008
|
|
NM_001005242.3(PKP2):c.918C>T (p.Pro306=)
|
rs368656084
|
0.00008
|
|
NM_001035.3(RYR2):c.*107G>A
|
rs867864296
|
0.00008
|
|
NM_001035.3(RYR2):c.11092-11T>A
|
rs1040339463
|
0.00008
|
|
NM_001035.3(RYR2):c.11151A>G (p.Lys3717=)
|
rs748235560
|
0.00008
|
|
NM_001035.3(RYR2):c.12047T>A (p.Phe4016Tyr)
|
rs375021201
|
0.00008
|
|
NM_001035.3(RYR2):c.13080C>T (p.Ser4360=)
|
rs369964660
|
0.00008
|
|
NM_001035.3(RYR2):c.1318G>A (p.Ala440Thr)
|
rs371878264
|
0.00008
|
|
NM_001035.3(RYR2):c.13329-11T>G
|
rs778172821
|
0.00008
|
|
NM_001035.3(RYR2):c.13695C>T (p.Ser4565=)
|
rs377503418
|
0.00008
|
|
NM_001035.3(RYR2):c.13718G>A (p.Arg4573His)
|
rs371157286
|
0.00008
|
|
NM_001035.3(RYR2):c.1454G>A (p.Arg485Gln)
|
rs752144775
|
0.00008
|
|
NM_001035.3(RYR2):c.1561G>A (p.Glu521Lys)
|
rs759494098
|
0.00008
|
|
NM_001035.3(RYR2):c.3721G>A (p.Val1241Ile)
|
rs185715460
|
0.00008
|
|
NM_001035.3(RYR2):c.4101A>G (p.Lys1367=)
|
rs376792533
|
0.00008
|
|
NM_001035.3(RYR2):c.4735G>A (p.Val1579Met)
|
rs763389778
|
0.00008
|
|
NM_001035.3(RYR2):c.5790T>C (p.Asp1930=)
|
rs764867305
|
0.00008
|
|
NM_001035.3(RYR2):c.629C>T (p.Thr210Ile)
|
rs371086868
|
0.00008
|
|
NM_001035.3(RYR2):c.6445A>G (p.Ile2149Val)
|
rs767258350
|
0.00008
|
|
NM_001035.3(RYR2):c.684C>T (p.Leu228=)
|
rs72549417
|
0.00008
|
|
NM_001035.3(RYR2):c.7158C>T (p.Asn2386=)
|
rs376057173
|
0.00008
|
|
NM_001035.3(RYR2):c.7608T>C (p.Ala2536=)
|
rs367987360
|
0.00008
|
|
NM_001035.3(RYR2):c.9397A>G (p.Ile3133Val)
|
rs1032783973
|
0.00008
|
|
NM_001035.3(RYR2):c.9518C>T (p.Thr3173Ile)
|
rs746161154
|
0.00008
|
|
NM_001035.3(RYR2):c.9619A>G (p.Asn3207Asp)
|
rs372601642
|
0.00008
|
|
NM_001035.3(RYR2):c.9820A>G (p.Asn3274Asp)
|
rs751551400
|
0.00008
|
|
NM_001035.3(RYR2):c.9891G>A (p.Lys3297=)
|
rs368661838
|
0.00008
|
|
NM_001232.4(CASQ2):c.1015-3C>T
|
rs375320117
|
0.00008
|
|
NM_001232.4(CASQ2):c.748C>T (p.Arg250Cys)
|
rs151115064
|
0.00008
|
|
NM_001232.4(CASQ2):c.758G>A (p.Arg253His)
|
rs199571249
|
0.00008
|
|
NM_001232.4(CASQ2):c.774T>C (p.Phe258=)
|
rs181769947
|
0.00008
|
|
NM_001232.4(CASQ2):c.855G>C (p.Leu285=)
|
rs148562107
|
0.00008
|
|
NM_001232.4(CASQ2):c.860T>A (p.Ile287Asn)
|
rs368165922
|
0.00008
|
|
NM_002230.4(JUP):c.1982G>A (p.Arg661Gln)
|
rs555499592
|
0.00008
|
|
NM_002230.4(JUP):c.475G>T (p.Val159Leu)
|
rs782702266
|
0.00008
|
|
NM_002230.4(JUP):c.809T>A (p.Leu270Gln)
|
rs794729040
|
0.00008
|
|
NM_002230.4(JUP):c.891C>T (p.Tyr297=)
|
rs397517302
|
0.00008
|
|
NM_003239.5(TGFB3):c.101A>G (p.His34Arg)
|
rs199791687
|
0.00008
|
|
NM_003239.5(TGFB3):c.97G>A (p.Gly33Ser)
|
rs781353815
|
0.00008
|
|
NM_004415.4(DSP):c.107G>C (p.Gly36Ala)
|
rs778506459
|
0.00008
|
|
NM_004415.4(DSP):c.2125C>T (p.Leu709Phe)
|
rs1431507005
|
0.00008
|
|
NM_004415.4(DSP):c.5316T>C (p.Asp1772=)
|
rs376186141
|
0.00008
|
|
NM_004415.4(DSP):c.7552G>A (p.Val2518Ile)
|
rs757394666
|
0.00008
|
|
NM_004415.4(DSP):c.888C>T (p.Tyr296=)
|
rs149701627
|
0.00008
|
|
NM_006073.4(TRDN):c.1137T>G (p.Asp379Glu)
|
rs200706450
|
0.00008
|
|
NM_006073.4(TRDN):c.1576A>C (p.Ile526Leu)
|
rs375091695
|
0.00008
|
|
NM_006073.4(TRDN):c.1952-8C>T
|
rs188767077
|
0.00008
|
|
NM_013266.4(CTNNA3):c.1450C>T (p.Arg484Cys)
|
rs200182913
|
0.00008
|
|
NM_024334.3(TMEM43):c.1089C>T (p.Thr363=)
|
rs145094507
|
0.00008
|
|
NM_024334.3(TMEM43):c.286C>G (p.Arg96Gly)
|
rs754797146
|
0.00008
|
|
NM_024334.3(TMEM43):c.428C>T (p.Thr143Met)
|
rs544554435
|
0.00008
|
|
NM_024334.3(TMEM43):c.798G>A (p.Arg266=)
|
rs139078900
|
0.00008
|
|
NM_024422.6(DSC2):c.136G>A (p.Glu46Lys)
|
rs180908546
|
0.00008
|
|
NM_024422.6(DSC2):c.295T>A (p.Ser99Thr)
|
rs199714872
|
0.00008
|
|
NM_024422.6(DSC2):c.4G>A (p.Glu2Lys)
|
rs762556795
|
0.00008
|
|
NM_024422.6(DSC2):c.596G>A (p.Arg199His)
|
rs374707462
|
0.00008
|
|
NM_001005242.3(PKP2):c.2360A>G (p.Tyr787Cys)
|
rs200411128
|
0.00007
|
|
NM_001005242.3(PKP2):c.795G>T (p.Gly265=)
|
rs375268778
|
0.00007
|
|
NM_001005242.3(PKP2):c.927C>T (p.Ala309=)
|
rs200152448
|
0.00007
|
|
NM_001035.3(RYR2):c.*761G>A
|
rs1034404143
|
0.00007
|
|
NM_001035.3(RYR2):c.10017C>T (p.His3339=)
|
rs376439588
|
0.00007
|
|
NM_001035.3(RYR2):c.1144G>A (p.Val382Met)
|
rs370057029
|
0.00007
|
|
NM_001035.3(RYR2):c.11766G>A (p.Glu3922=)
|
rs774625105
|
0.00007
|
|
NM_001035.3(RYR2):c.12291C>T (p.Asn4097=)
|
rs377313490
|
0.00007
|
|
NM_001035.3(RYR2):c.12669G>A (p.Lys4223=)
|
rs147887477
|
0.00007
|
|
NM_001035.3(RYR2):c.13329-3T>C
|
rs542440592
|
0.00007
|
|
NM_001035.3(RYR2):c.1396C>G (p.Pro466Ala)
|
rs376612295
|
0.00007
|
|
NM_001035.3(RYR2):c.1491C>T (p.Leu497=)
|
rs774279425
|
0.00007
|
|
NM_001035.3(RYR2):c.2104G>A (p.Gly702Arg)
|
rs569386030
|
0.00007
|
|
NM_001035.3(RYR2):c.51T>C (p.Asp17=)
|
rs373674802
|
0.00007
|
|
NM_001035.3(RYR2):c.5822G>A (p.Arg1941His)
|
rs373600053
|
0.00007
|
|
NM_001035.3(RYR2):c.7495G>A (p.Ala2499Thr)
|
rs191850147
|
0.00007
|
|
NM_001035.3(RYR2):c.8830+19T>C
|
rs770534794
|
0.00007
|
|
NM_001232.4(CASQ2):c.475G>A (p.Glu159Lys)
|
rs375598471
|
0.00007
|
|
NM_001232.4(CASQ2):c.503T>C (p.Ile168Thr)
|
rs148057999
|
0.00007
|
|
NM_001232.4(CASQ2):c.532+17C>A
|
rs768587375
|
0.00007
|
|
NM_001943.5(DSG2):c.*392A>G
|
rs886053721
|
0.00007
|
|
NM_001943.5(DSG2):c.1397C>T (p.Thr466Ile)
|
rs769137357
|
0.00007
|
|
NM_001943.5(DSG2):c.3195T>C (p.Thr1065=)
|
rs544981484
|
0.00007
|
|
NM_001943.5(DSG2):c.3244C>G (p.Pro1082Ala)
|
rs191300661
|
0.00007
|
|
NM_001943.5(DSG2):c.600C>A (p.Ile200=)
|
rs535646295
|
0.00007
|
|
NM_002230.4(JUP):c.1774-6C>T
|
rs375016135
|
0.00007
|
|
NM_002230.4(JUP):c.2030C>T (p.Pro677Leu)
|
rs782622653
|
0.00007
|
|
NM_002230.4(JUP):c.2230C>T (p.Leu744=)
|
rs782069599
|
0.00007
|
|
NM_002230.4(JUP):c.356C>T (p.Pro119Leu)
|
rs376123010
|
0.00007
|
|
NM_002230.4(JUP):c.427G>A (p.Ala143Thr)
|
rs375788626
|
0.00007
|
|
NM_002230.4(JUP):c.526C>T (p.Arg176Trp)
|
rs368336007
|
0.00007
|
|
NM_002230.4(JUP):c.529C>T (p.Arg177Trp)
|
rs148484473
|
0.00007
|
|
NM_002230.4(JUP):c.56C>T (p.Thr19Ile)
|
rs570878629
|
0.00007
|
|
NM_002230.4(JUP):c.958C>T (p.Arg320Cys)
|
rs200740462
|
0.00007
|
|
NM_004415.4(DSP):c.1044+10A>C
|
rs750114473
|
0.00007
|
|
NM_004415.4(DSP):c.1044+12G>A
|
rs775969969
|
0.00007
|
|
NM_004415.4(DSP):c.1839C>T (p.Thr613=)
|
rs397516921
|
0.00007
|
|
NM_004415.4(DSP):c.2941A>G (p.Lys981Glu)
|
rs747580402
|
0.00007
|
|
NM_004415.4(DSP):c.3102C>T (p.Ile1034=)
|
rs569974617
|
0.00007
|
|
NM_004415.4(DSP):c.4749C>T (p.Thr1583=)
|
rs745348231
|
0.00007
|
|
NM_004415.4(DSP):c.4901G>A (p.Arg1634Gln)
|
rs144106775
|
0.00007
|
|
NM_004415.4(DSP):c.4943A>G (p.Gln1648Arg)
|
rs202232360
|
0.00007
|
|
NM_004415.4(DSP):c.5363A>G (p.Gln1788Arg)
|
rs139673146
|
0.00007
|
|
NM_004415.4(DSP):c.7563T>C (p.Asp2521=)
|
rs984412074
|
0.00007
|
|
NM_004415.4(DSP):c.8172G>T (p.Gln2724His)
|
rs372569211
|
0.00007
|
|
NM_006073.4(TRDN):c.1063G>T (p.Ala355Ser)
|
rs776657049
|
0.00007
|
|
NM_006073.4(TRDN):c.1187-3C>T
|
rs375421435
|
0.00007
|
|
NM_006073.4(TRDN):c.1673-8T>C
|
rs202183696
|
0.00007
|
|
NM_006073.4(TRDN):c.1801C>G (p.Pro601Ala)
|
rs376214235
|
0.00007
|
|
NM_006073.4(TRDN):c.1831+12C>A
|
rs368167703
|
0.00007
|
|
NM_006073.4(TRDN):c.1832-4C>A
|
rs539547575
|
0.00007
|
|
NM_006073.4(TRDN):c.728C>T (p.Thr243Ile)
|
rs769684583
|
0.00007
|
|
NM_013266.4(CTNNA3):c.1691C>T (p.Thr564Met)
|
rs538149393
|
0.00007
|
|
NM_032578.4(MYPN):c.140C>T (p.Pro47Leu)
|
rs777446804
|
0.00007
|
|
NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp)
|
rs199473044
|
0.00006
|
|
NM_001005242.3(PKP2):c.*215G>A
|
rs886049318
|
0.00006
|
|
NM_001005242.3(PKP2):c.1093A>G (p.Met365Val)
|
rs143900944
|
0.00006
|
|
NM_001005242.3(PKP2):c.1190T>A (p.Ile397Asn)
|
rs772334698
|
0.00006
|
|
NM_001005242.3(PKP2):c.1230C>T (p.Asp410=)
|
rs148364390
|
0.00006
|
|
NM_001005242.3(PKP2):c.1444A>G (p.Thr482Ala)
|
rs397516999
|
0.00006
|
|
NM_001005242.3(PKP2):c.2171A>C (p.Lys724Thr)
|
rs201487421
|
0.00006
|
|
NM_001005242.3(PKP2):c.2332A>G (p.Ile778Val)
|
rs145324631
|
0.00006
|
|
NM_001005242.3(PKP2):c.2350G>A (p.Gly784Ser)
|
rs750119363
|
0.00006
|
|
NM_001005242.3(PKP2):c.486G>A (p.Thr162=)
|
rs189040311
|
0.00006
|
|
NM_001005242.3(PKP2):c.900G>A (p.Thr300=)
|
rs140235564
|
0.00006
|
|
NM_001005242.3(PKP2):c.968_969del (p.Gln323fs)
|
rs745882420
|
0.00006
|
|
NM_001005242.3(PKP2):c.985A>C (p.Ser329Arg)
|
rs779173447
|
0.00006
|
|
NM_001035.3(RYR2):c.10494+13T>G
|
rs796484463
|
0.00006
|
|
NM_001035.3(RYR2):c.10725+4A>T
|
rs116444428
|
0.00006
|
|
NM_001035.3(RYR2):c.10838+4G>A
|
rs776923037
|
0.00006
|
|
NM_001035.3(RYR2):c.11403-16T>C
|
rs560731755
|
0.00006
|
|
NM_001035.3(RYR2):c.11974A>C (p.Asn3992His)
|
rs781352451
|
0.00006
|
|
NM_001035.3(RYR2):c.12076T>G (p.Leu4026Val)
|
rs765141566
|
0.00006
|
|
NM_001035.3(RYR2):c.13206C>T (p.Leu4402=)
|
rs397516509
|
0.00006
|
|
NM_001035.3(RYR2):c.13237C>A (p.Pro4413Thr)
|
rs773441342
|
0.00006
|
|
NM_001035.3(RYR2):c.14310C>T (p.Thr4770=)
|
rs372967537
|
0.00006
|
|
NM_001035.3(RYR2):c.14658C>G (p.Thr4886=)
|
rs771308728
|
0.00006
|
|
NM_001035.3(RYR2):c.14808+17A>C
|
rs368520821
|
0.00006
|
|
NM_001035.3(RYR2):c.14844T>C (p.Cys4948=)
|
rs540984275
|
0.00006
|
|
NM_001035.3(RYR2):c.1511G>A (p.Arg504His)
|
rs201600087
|
0.00006
|
|
NM_001035.3(RYR2):c.1518C>T (p.His506=)
|
rs372620246
|
0.00006
|
|
NM_001035.3(RYR2):c.1612+13A>G
|
rs368200572
|
0.00006
|
|
NM_001035.3(RYR2):c.1962-12G>A
|
rs368241264
|
0.00006
|
|
NM_001035.3(RYR2):c.2045C>G (p.Thr682Arg)
|
rs377285489
|
0.00006
|
|
NM_001035.3(RYR2):c.2203+13C>T
|
rs183060058
|
0.00006
|
|
NM_001035.3(RYR2):c.2573C>T (p.Thr858Met)
|
rs377068202
|
0.00006
|
|
NM_001035.3(RYR2):c.2643A>C (p.Ile881=)
|
rs751869107
|
0.00006
|
|
NM_001035.3(RYR2):c.2717C>T (p.Pro906Leu)
|
rs397516522
|
0.00006
|
|
NM_001035.3(RYR2):c.273+12A>G
|
rs773831812
|
0.00006
|
|
NM_001035.3(RYR2):c.2772G>A (p.Leu924=)
|
rs780664060
|
0.00006
|
|
NM_001035.3(RYR2):c.3164G>A (p.Arg1055His)
|
rs757490010
|
0.00006
|
|
NM_001035.3(RYR2):c.3266G>A (p.Arg1089His)
|
rs552564367
|
0.00006
|
|
NM_001035.3(RYR2):c.3483C>T (p.Val1161=)
|
rs777622110
|
0.00006
|
|
NM_001035.3(RYR2):c.3507C>T (p.Asn1169=)
|
rs746106606
|
0.00006
|
|
NM_001035.3(RYR2):c.3836G>C (p.Ser1279Thr)
|
rs751419465
|
0.00006
|
|
NM_001035.3(RYR2):c.4143C>T (p.Pro1381=)
|
rs762991553
|
0.00006
|
|
NM_001035.3(RYR2):c.4488C>T (p.Pro1496=)
|
rs370082063
|
0.00006
|
|
NM_001035.3(RYR2):c.4596+4C>T
|
rs397516532
|
0.00006
|
|
NM_001035.3(RYR2):c.4683+9A>G
|
rs368678508
|
0.00006
|
|
NM_001035.3(RYR2):c.4695T>C (p.Pro1565=)
|
rs368826662
|
0.00006
|
|
NM_001035.3(RYR2):c.5253C>T (p.Ile1751=)
|
rs745565940
|
0.00006
|
|
NM_001035.3(RYR2):c.5614G>A (p.Asp1872Asn)
|
rs761770946
|
0.00006
|
|
NM_001035.3(RYR2):c.5835C>T (p.Asn1945=)
|
rs189299988
|
0.00006
|
|
NM_001035.3(RYR2):c.5916+10T>C
|
rs372125472
|
0.00006
|
|
NM_001035.3(RYR2):c.5917-12T>G
|
rs746414195
|
0.00006
|
|
NM_001035.3(RYR2):c.6166+8G>A
|
rs373112536
|
0.00006
|
|
NM_001035.3(RYR2):c.6320C>T (p.Thr2107Met)
|
rs370331492
|
0.00006
|
|
NM_001035.3(RYR2):c.6440+6T>C
|
rs775678664
|
0.00006
|
|
NM_001035.3(RYR2):c.6738G>T (p.Ser2246=)
|
rs368207198
|
0.00006
|
|
NM_001035.3(RYR2):c.7149C>T (p.His2383=)
|
rs183606632
|
0.00006
|
|
NM_001035.3(RYR2):c.7222-12T>C
|
rs540308433
|
0.00006
|
|
NM_001035.3(RYR2):c.7494G>A (p.Ala2498=)
|
rs533068485
|
0.00006
|
|
NM_001035.3(RYR2):c.7697G>A (p.Arg2566Gln)
|
rs532016557
|
0.00006
|
|
NM_001035.3(RYR2):c.76G>A (p.Ala26Thr)
|
rs368974917
|
0.00006
|
|
NM_001035.3(RYR2):c.7815G>A (p.Met2605Ile)
|
rs1244019330
|
0.00006
|
|
NM_001035.3(RYR2):c.8248T>A (p.Ser2750Thr)
|
rs547987180
|
0.00006
|
|
NM_001035.3(RYR2):c.8416C>T (p.Arg2806Cys)
|
rs727504134
|
0.00006
|
|
NM_001035.3(RYR2):c.8437-1390C>T
|
rs1402357546
|
0.00006
|
|
NM_001035.3(RYR2):c.8437-3T>C
|
rs924080705
|
0.00006
|
|
NM_001035.3(RYR2):c.848+8G>C
|
rs373075790
|
0.00006
|
|
NM_001035.3(RYR2):c.9450-9C>T
|
rs752779628
|
0.00006
|
|
NM_001035.3(RYR2):c.9569G>A (p.Arg3190Gln)
|
rs369276868
|
0.00006
|
|
NM_001035.3(RYR2):c.9672C>T (p.Ser3224=)
|
rs370740528
|
0.00006
|
|
NM_001232.4(CASQ2):c.1121A>G (p.Asp374Gly)
|
rs886045158
|
0.00006
|
|
NM_001232.4(CASQ2):c.1148A>G (p.Asp383Gly)
|
rs397516640
|
0.00006
|
|
NM_001232.4(CASQ2):c.270C>A (p.Gly90=)
|
rs72554056
|
0.00006
|
|
NM_001943.5(DSG2):c.*289A>G
|
rs541237335
|
0.00006
|
|
NM_001943.5(DSG2):c.1089G>A (p.Ser363=)
|
rs372598337
|
0.00006
|
|
NM_001943.5(DSG2):c.1491C>T (p.Pro497=)
|
rs587780928
|
0.00006
|
|
NM_001943.5(DSG2):c.15G>C (p.Pro5=)
|
rs772663614
|
0.00006
|
|
NM_001943.5(DSG2):c.1643G>A (p.Arg548His)
|
rs551034751
|
0.00006
|
|
NM_001943.5(DSG2):c.1847C>T (p.Ala616Val)
|
rs375527314
|
0.00006
|
|
NM_001943.5(DSG2):c.1949C>T (p.Thr650Ile)
|
rs373512167
|
0.00006
|
|
NM_001943.5(DSG2):c.2001+20A>G
|
rs746383404
|
0.00006
|
|
NM_001943.5(DSG2):c.2033G>C (p.Gly678Ala)
|
rs372494397
|
0.00006
|
|
NM_001943.5(DSG2):c.2085G>A (p.Thr695=)
|
rs554396523
|
0.00006
|
|
NM_001943.5(DSG2):c.2241C>T (p.Thr747=)
|
rs767628208
|
0.00006
|
|
NM_001943.5(DSG2):c.513G>T (p.Leu171Phe)
|
rs199926617
|
0.00006
|
|
NM_001943.5(DSG2):c.524-6T>C
|
rs755923878
|
0.00006
|
|
NM_001943.5(DSG2):c.98A>G (p.Asn33Ser)
|
rs727505205
|
0.00006
|
|
NM_002230.4(JUP):c.*351G>A
|
rs782725604
|
0.00006
|
|
NM_002230.4(JUP):c.-51C>G
|
rs886052920
|
0.00006
|
|
NM_002230.4(JUP):c.1055-14del
|
rs140002183
|
0.00006
|
|
NM_002230.4(JUP):c.109G>A (p.Val37Ile)
|
rs150769772
|
0.00006
|
|
NM_002230.4(JUP):c.1713C>G (p.Ala571=)
|
rs138446862
|
0.00006
|
|
NM_002230.4(JUP):c.1909C>T (p.Arg637Cys)
|
rs531732438
|
0.00006
|
|
NM_002230.4(JUP):c.1912A>C (p.Asn638His)
|
rs782658008
|
0.00006
|
|
NM_002230.4(JUP):c.2167_2172del (p.Asp723_Tyr724del)
|
rs782439900
|
0.00006
|
|
NM_002230.4(JUP):c.530G>A (p.Arg177Gln)
|
rs371481933
|
0.00006
|
|
NM_002230.4(JUP):c.561C>T (p.Ala187=)
|
rs139552714
|
0.00006
|
|
NM_002230.4(JUP):c.568G>A (p.Val190Met)
|
rs370143312
|
0.00006
|
|
NM_002230.4(JUP):c.762C>T (p.Leu254=)
|
rs781805854
|
0.00006
|
|
NM_002230.4(JUP):c.778G>A (p.Ala260Thr)
|
rs149623442
|
0.00006
|
|
NM_002230.4(JUP):c.972T>C (p.Tyr324=)
|
rs781889333
|
0.00006
|
|
NM_003239.5(TGFB3):c.235C>G (p.Leu79Val)
|
rs371230847
|
0.00006
|
|
NM_003803.4(MYOM1):c.2138G>A (p.Arg713His)
|
rs183881662
|
0.00006
|
|
NM_004415.4(DSP):c.1155G>A (p.Ala385=)
|
rs140488069
|
0.00006
|
|
NM_004415.4(DSP):c.1494G>A (p.Pro498=)
|
rs764544754
|
0.00006
|
|
NM_004415.4(DSP):c.174A>G (p.Gln58=)
|
rs140384933
|
0.00006
|
|
NM_004415.4(DSP):c.183G>A (p.Thr61=)
|
rs150383703
|
0.00006
|
|
NM_004415.4(DSP):c.2122G>A (p.Glu708Lys)
|
rs773113261
|
0.00006
|
|
NM_004415.4(DSP):c.2437-20T>G
|
rs778134276
|
0.00006
|
|
NM_004415.4(DSP):c.259C>G (p.Leu87Val)
|
rs377652477
|
0.00006
|
|
NM_004415.4(DSP):c.2630+19G>A
|
rs139830549
|
0.00006
|
|
NM_004415.4(DSP):c.3294C>G (p.Asp1098Glu)
|
rs535762713
|
0.00006
|
|
NM_004415.4(DSP):c.3304G>A (p.Gly1102Ser)
|
rs2491079
|
0.00006
|
|
NM_004415.4(DSP):c.3338G>A (p.Arg1113Gln)
|
rs768455823
|
0.00006
|
|
NM_004415.4(DSP):c.3836C>T (p.Ala1279Val)
|
rs753270443
|
0.00006
|
|
NM_004415.4(DSP):c.4022G>A (p.Arg1341His)
|
rs112242645
|
0.00006
|
|
NM_004415.4(DSP):c.4117A>G (p.Thr1373Ala)
|
rs200745877
|
0.00006
|
|
NM_004415.4(DSP):c.4320G>A (p.Val1440=)
|
rs571103583
|
0.00006
|
|
NM_004415.4(DSP):c.4793T>A (p.Leu1598Gln)
|
rs369449858
|
0.00006
|
|
NM_004415.4(DSP):c.4914C>T (p.Asp1638=)
|
rs750113099
|
0.00006
|
|
NM_004415.4(DSP):c.5197G>A (p.Asp1733Asn)
|
rs138588403
|
0.00006
|
|
NM_004415.4(DSP):c.5417C>G (p.Thr1806Ser)
|
rs149773722
|
0.00006
|
|
NM_004415.4(DSP):c.5463C>T (p.Val1821=)
|
rs961915749
|
0.00006
|
|
NM_004415.4(DSP):c.561C>T (p.Val187=)
|
rs199585428
|
0.00006
|
|
NM_004415.4(DSP):c.6188G>A (p.Arg2063Gln)
|
rs142927608
|
0.00006
|
|
NM_004415.4(DSP):c.6511A>G (p.Asn2171Asp)
|
rs149827779
|
0.00006
|
|
NM_004415.4(DSP):c.6654C>T (p.Thr2218=)
|
rs727503005
|
0.00006
|
|
NM_004415.4(DSP):c.726+7G>C
|
rs370309952
|
0.00006
|
|
NM_004415.4(DSP):c.729C>T (p.Arg243=)
|
rs141028505
|
0.00006
|
|
NM_004415.4(DSP):c.7548G>A (p.Arg2516=)
|
rs756527780
|
0.00006
|
|
NM_004415.4(DSP):c.783G>A (p.Ala261=)
|
rs764596108
|
0.00006
|
|
NM_004415.4(DSP):c.8268A>C (p.Ile2756=)
|
rs397516963
|
0.00006
|
|
NM_004415.4(DSP):c.915C>T (p.Ile305=)
|
rs148395326
|
0.00006
|
|
NM_006073.4(TRDN):c.1105G>A (p.Ala369Thr)
|
rs369198088
|
0.00006
|
|
NM_006073.4(TRDN):c.1106-8T>C
|
rs575469218
|
0.00006
|
|
NM_006073.4(TRDN):c.1832-15T>C
|
rs904511303
|
0.00006
|
|
NM_006073.4(TRDN):c.1975+8C>T
|
rs754046696
|
0.00006
|
|
NM_006073.4(TRDN):c.2084A>T (p.Asp695Val)
|
rs202040879
|
0.00006
|
|
NM_006073.4(TRDN):c.550G>T (p.Ala184Ser)
|
rs576028226
|
0.00006
|
|
NM_006073.4(TRDN):c.613C>T (p.Gln205Ter)
|
rs397515458
|
0.00006
|
|
NM_006073.4(TRDN):c.797A>G (p.Gln266Arg)
|
rs200068375
|
0.00006
|
|
NM_013266.4(CTNNA3):c.1035G>A (p.Glu345=)
|
rs368211074
|
0.00006
|
|
NM_013266.4(CTNNA3):c.1120C>T (p.Arg374Cys)
|
rs370981751
|
0.00006
|
|
NM_013266.4(CTNNA3):c.1476C>T (p.Val492=)
|
rs182681928
|
0.00006
|
|
NM_013266.4(CTNNA3):c.1491A>G (p.Val497=)
|
rs141098613
|
0.00006
|
|
NM_013266.4(CTNNA3):c.1651G>A (p.Val551Ile)
|
rs750835711
|
0.00006
|
|
NM_013266.4(CTNNA3):c.1959C>T (p.Thr653=)
|
rs556623128
|
0.00006
|
|
NM_013266.4(CTNNA3):c.2159+13A>G
|
rs895448832
|
0.00006
|
|
NM_013266.4(CTNNA3):c.796C>T (p.Pro266Ser)
|
rs199985402
|
0.00006
|
|
NM_013266.4(CTNNA3):c.844-10C>T
|
rs754623972
|
0.00006
|
|
NM_024334.3(TMEM43):c.1185A>G (p.Pro395=)
|
rs747754860
|
0.00006
|
|
NM_024334.3(TMEM43):c.214G>A (p.Val72Met)
|
rs368603914
|
0.00006
|
|
NM_024334.3(TMEM43):c.442+20C>T
|
rs202103307
|
0.00006
|
|
NM_024334.3(TMEM43):c.53A>G (p.Lys18Arg)
|
rs1214893591
|
0.00006
|
|
NM_024334.3(TMEM43):c.578C>T (p.Ser193Leu)
|
rs140380494
|
0.00006
|
|
NM_024334.3(TMEM43):c.797G>A (p.Arg266Gln)
|
rs193922707
|
0.00006
|
|
NM_024334.3(TMEM43):c.802C>T (p.Arg268Trp)
|
rs201138253
|
0.00006
|
|
NM_024334.3(TMEM43):c.921G>A (p.Lys307=)
|
rs201771608
|
0.00006
|
|
NM_024334.3(TMEM43):c.981A>G (p.Thr327=)
|
rs764960823
|
0.00006
|
|
NM_024422.6(DSC2):c.1091T>G (p.Val364Gly)
|
rs368089478
|
0.00006
|
|
NM_024422.6(DSC2):c.1264-18A>G
|
rs374946259
|
0.00006
|
|
NM_024422.6(DSC2):c.1291A>G (p.Met431Val)
|
rs377287621
|
0.00006
|
|
NM_024422.6(DSC2):c.1591A>C (p.Arg531=)
|
rs727502981
|
0.00006
|
|
NM_024422.6(DSC2):c.1638T>C (p.Asn546=)
|
rs145987522
|
0.00006
|
|
NM_024422.6(DSC2):c.2103G>A (p.Leu701=)
|
rs141726394
|
0.00006
|
|
NM_024422.6(DSC2):c.2126-7C>G
|
rs936641955
|
0.00006
|
|
NM_024422.6(DSC2):c.2139G>A (p.Thr713=)
|
rs112532429
|
0.00006
|
|
NM_024422.6(DSC2):c.2151G>C (p.Gly717=)
|
rs752691135
|
0.00006
|
|
NM_024422.6(DSC2):c.2162C>T (p.Thr721Met)
|
rs759513934
|
0.00006
|
|
NM_024422.6(DSC2):c.2245A>C (p.Lys749Gln)
|
rs765067237
|
0.00006
|
|
NM_024422.6(DSC2):c.2259G>A (p.Ala753=)
|
rs201086521
|
0.00006
|
|
NM_024422.6(DSC2):c.2603C>T (p.Ser868Phe)
|
rs141873745
|
0.00006
|
|
NM_024422.6(DSC2):c.266C>T (p.Ser89Leu)
|
rs141379407
|
0.00006
|
|
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn)
|
rs74315445
|
0.00005
|
|
NM_000432.4(MYL2):c.433G>A (p.Asp145Asn)
|
rs199567559
|
0.00005
|
|
NM_001005242.3(PKP2):c.1137C>T (p.His379=)
|
rs754927123
|
0.00005
|
|
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter)
|
rs372827156
|
0.00005
|
|
NM_001005242.3(PKP2):c.123G>T (p.Ala41=)
|
rs757273590
|
0.00005
|
|
NM_001005242.3(PKP2):c.1372A>G (p.Ile458Val)
|
rs199571473
|
0.00005
|
|
NM_001005242.3(PKP2):c.1379-1960T>C
|
rs1028861380
|
0.00005
|
|
NM_001005242.3(PKP2):c.1379-2000T>A
|
rs769899368
|
0.00005
|
|
NM_001005242.3(PKP2):c.1379-2072C>T
|
rs758950276
|
0.00005
|
|
NM_001005242.3(PKP2):c.1451C>T (p.Thr484Met)
|
rs774942476
|
0.00005
|
|
NM_001005242.3(PKP2):c.1809T>G (p.Cys603Trp)
|
rs767935208
|
0.00005
|
|
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter)
|
rs121434420
|
0.00005
|
|
NM_001005242.3(PKP2):c.576G>A (p.Pro192=)
|
rs373380483
|
0.00005
|
|
NM_001005242.3(PKP2):c.725C>T (p.Thr242Met)
|
rs201580443
|
0.00005
|
|
NM_001005242.3(PKP2):c.895C>T (p.Arg299Cys)
|
rs564987195
|
0.00005
|
|
NM_001005242.3(PKP2):c.899C>A (p.Thr300Lys)
|
rs553098424
|
0.00005
|
|
NM_001005242.3(PKP2):c.974C>T (p.Ala325Val)
|
rs201803918
|
0.00005
|
|
NM_001035.3(RYR2):c.*566G>T
|
rs886046293
|
0.00005
|
|
NM_001035.3(RYR2):c.10293T>C (p.Leu3431=)
|
rs727505058
|
0.00005
|
|
NM_001035.3(RYR2):c.10699C>T (p.Arg3567Cys)
|
rs559154874
|
0.00005
|
|
NM_001035.3(RYR2):c.11206G>A (p.Ala3736Thr)
|
rs375095599
|
0.00005
|
|
NM_001035.3(RYR2):c.11418T>C (p.Asn3806=)
|
rs889979768
|
0.00005
|
|
NM_001035.3(RYR2):c.12189G>A (p.Thr4063=)
|
rs368948386
|
0.00005
|
|
NM_001035.3(RYR2):c.13600C>T (p.Pro4534Ser)
|
rs199624074
|
0.00005
|
|
NM_001035.3(RYR2):c.1973A>G (p.Asn658Ser)
|
rs2009813
|
0.00005
|
|
NM_001035.3(RYR2):c.2039A>G (p.Asp680Gly)
|
rs758835308
|
0.00005
|
|
NM_001035.3(RYR2):c.2410C>T (p.Leu804Phe)
|
rs577451406
|
0.00005
|
|
NM_001035.3(RYR2):c.4160+15C>T
|
rs376097712
|
0.00005
|
|
NM_001035.3(RYR2):c.5454T>C (p.Phe1818=)
|
rs201218861
|
0.00005
|
|
NM_001035.3(RYR2):c.5793T>G (p.Asp1931Glu)
|
rs372222227
|
0.00005
|
|
NM_001035.3(RYR2):c.594C>T (p.Asn198=)
|
rs727504676
|
0.00005
|
|
NM_001035.3(RYR2):c.8147A>T (p.Lys2716Ile)
|
rs749618476
|
0.00005
|
|
NM_001035.3(RYR2):c.815G>T (p.Arg272Leu)
|
rs377368967
|
0.00005
|
|
NM_001035.3(RYR2):c.8209-13G>C
|
rs759582222
|
0.00005
|
|
NM_001035.3(RYR2):c.9251G>A (p.Arg3084Gln)
|
rs747605864
|
0.00005
|
|
NM_001035.3(RYR2):c.9580+9G>A
|
rs767679867
|
0.00005
|
|
NM_001148.6(ANK2):c.10708G>A (p.Glu3570Lys)
|
rs180843436
|
0.00005
|
|
NM_001232.4(CASQ2):c.158G>T (p.Cys53Phe)
|
rs151168851
|
0.00005
|
|
NM_001232.4(CASQ2):c.173A>T (p.Glu58Val)
|
rs764732977
|
0.00005
|
|
NM_001232.4(CASQ2):c.897C>T (p.Pro299=)
|
rs752053912
|
0.00005
|
|
NM_001232.4(CASQ2):c.927C>T (p.Asp309=)
|
rs749266321
|
0.00005
|
|
NM_001943.5(DSG2):c.*859G>A
|
rs886053727
|
0.00005
|
|
NM_001943.5(DSG2):c.1656C>T (p.Thr552=)
|
rs756426150
|
0.00005
|
|
NM_001943.5(DSG2):c.165C>T (p.Pro55=)
|
rs780650457
|
0.00005
|
|
NM_001943.5(DSG2):c.175C>T (p.Arg59Trp)
|
rs749602291
|
0.00005
|
|
NM_001943.5(DSG2):c.2275G>A (p.Gly759Arg)
|
rs765793636
|
0.00005
|
|
NM_001943.5(DSG2):c.2341G>T (p.Ala781Ser)
|
rs760402926
|
0.00005
|
|
NM_001943.5(DSG2):c.2471G>A (p.Arg824His)
|
rs376858770
|
0.00005
|
|
NM_001943.5(DSG2):c.2597C>T (p.Ala866Val)
|
rs553730922
|
0.00005
|
|
NM_001943.5(DSG2):c.2780C>T (p.Pro927Leu)
|
rs146402368
|
0.00005
|
|
NM_001943.5(DSG2):c.2897G>C (p.Arg966Thr)
|
rs764925318
|
0.00005
|
|
NM_001943.5(DSG2):c.3095C>T (p.Thr1032Ile)
|
rs775546937
|
0.00005
|
|
NM_001943.5(DSG2):c.82-19C>G
|
rs746455736
|
0.00005
|
|
NM_001943.5(DSG2):c.862G>A (p.Val288Ile)
|
rs780374242
|
0.00005
|
|
NM_001943.5(DSG2):c.961T>A (p.Phe321Ile)
|
rs201040643
|
0.00005
|
|
NM_002230.4(JUP):c.*728A>C
|
rs889216050
|
0.00005
|
|
NM_002230.4(JUP):c.*906A>C
|
rs569644513
|
0.00005
|
|
NM_002230.4(JUP):c.1039G>A (p.Ala347Thr)
|
rs782301706
|
0.00005
|
|
NM_002230.4(JUP):c.1130G>A (p.Arg377His)
|
rs794729044
|
0.00005
|
|
NM_002230.4(JUP):c.1452C>T (p.Ala484=)
|
rs374831874
|
0.00005
|
|
NM_002230.4(JUP):c.1455C>T (p.Ile485=)
|
rs368692517
|
0.00005
|
|
NM_002230.4(JUP):c.1710C>T (p.Leu570=)
|
rs375801194
|
0.00005
|
|
NM_002230.4(JUP):c.1857C>T (p.Asp619=)
|
rs782623854
|
0.00005
|
|
NM_002230.4(JUP):c.2102A>G (p.Tyr701Cys)
|
rs781857012
|
0.00005
|
|
NM_002230.4(JUP):c.412G>A (p.Glu138Lys)
|
rs150245906
|
0.00005
|
|
NM_002230.4(JUP):c.460G>A (p.Glu154Lys)
|
rs782765314
|
0.00005
|
|
NM_002230.4(JUP):c.560C>T (p.Ala187Val)
|
rs782370709
|
0.00005
|
|
NM_002230.4(JUP):c.748C>T (p.Leu250=)
|
rs545386394
|
0.00005
|
|
NM_002230.4(JUP):c.989C>A (p.Thr330Asn)
|
rs782145797
|
0.00005
|
|
NM_002230.4(JUP):c.998G>A (p.Arg333His)
|
rs727503099
|
0.00005
|
|
NM_003239.5(TGFB3):c.559G>A (p.Gly187Ser)
|
rs201063101
|
0.00005
|
|
NM_004006.3(DMD):c.1713T>A (p.Phe571Leu)
|
rs587782936
|
0.00005
|
|
NM_004415.4(DSP):c.*62A>T
|
rs182788116
|
0.00005
|
|
NM_004415.4(DSP):c.1034A>G (p.Asp345Gly)
|
rs753855393
|
0.00005
|
|
NM_004415.4(DSP):c.1983T>C (p.Asn661=)
|
rs770735715
|
0.00005
|
|
NM_004415.4(DSP):c.2247A>G (p.Leu749=)
|
rs28763963
|
0.00005
|
|
NM_004415.4(DSP):c.2569G>A (p.Gly857Ser)
|
rs548695484
|
0.00005
|
|
NM_004415.4(DSP):c.284A>G (p.Tyr95Cys)
|
rs781226937
|
0.00005
|
|
NM_004415.4(DSP):c.3507C>T (p.Tyr1169=)
|
rs148894066
|
0.00005
|
|
NM_004415.4(DSP):c.3971A>T (p.Asn1324Ile)
|
rs749820299
|
0.00005
|
|
NM_004415.4(DSP):c.4401A>G (p.Gln1467=)
|
rs199818953
|
0.00005
|
|
NM_004415.4(DSP):c.5063C>T (p.Ala1688Val)
|
rs372288373
|
0.00005
|
|
NM_004415.4(DSP):c.5221G>A (p.Ala1741Thr)
|
rs777773801
|
0.00005
|
|
NM_004415.4(DSP):c.5285G>A (p.Arg1762Gln)
|
rs751849031
|
0.00005
|
|
NM_004415.4(DSP):c.5555G>A (p.Arg1852His)
|
rs193922669
|
0.00005
|
|
NM_004415.4(DSP):c.643G>A (p.Glu215Lys)
|
rs148095061
|
0.00005
|
|
NM_004415.4(DSP):c.6452G>A (p.Arg2151Gln)
|
rs367759510
|
0.00005
|
|
NM_004415.4(DSP):c.6565C>T (p.Arg2189Trp)
|
rs767661570
|
0.00005
|
|
NM_004415.4(DSP):c.6718C>G (p.Gln2240Glu)
|
rs374262024
|
0.00005
|
|
NM_004415.4(DSP):c.727-10T>G
|
rs375327581
|
0.00005
|
|
NM_004415.4(DSP):c.778-20C>T
|
rs762596346
|
0.00005
|
|
NM_004415.4(DSP):c.7964C>G (p.Ala2655Gly)
|
rs193922671
|
0.00005
|
|
NM_004415.4(DSP):c.8255G>A (p.Arg2752Gln)
|
rs769706539
|
0.00005
|
|
NM_004415.4(DSP):c.8281G>A (p.Ala2761Thr)
|
rs376751288
|
0.00005
|
|
NM_004415.4(DSP):c.8462C>T (p.Ser2821Leu)
|
rs201826850
|
0.00005
|
|
NM_004415.4(DSP):c.8507G>A (p.Gly2836Glu)
|
rs764232504
|
0.00005
|
|
NM_004415.4(DSP):c.8524C>T (p.Arg2842Cys)
|
rs144850908
|
0.00005
|
|
NM_004415.4(DSP):c.916G>A (p.Ala306Thr)
|
rs368193211
|
0.00005
|
|
NM_004628.5(XPC):c.2421-11T>C
|
rs3731167
|
0.00005
|
|
NM_006073.4(TRDN):c.1276A>C (p.Thr426Pro)
|
rs1040336692
|
0.00005
|
|
NM_006073.4(TRDN):c.1361T>C (p.Val454Ala)
|
rs745960330
|
0.00005
|
|
NM_006073.4(TRDN):c.1471+5T>C
|
rs374426512
|
0.00005
|
|
NM_006073.4(TRDN):c.1537+17C>T
|
rs369584691
|
0.00005
|
|
NM_006073.4(TRDN):c.224A>T (p.Asn75Ile)
|
rs368939536
|
0.00005
|
|
NM_006073.4(TRDN):c.484+6C>G
|
rs115773202
|
0.00005
|
|
NM_006073.4(TRDN):c.52G>C (p.Asp18His)
|
rs372554839
|
0.00005
|
|
NM_006073.4(TRDN):c.94C>T (p.Leu32=)
|
rs755548582
|
0.00005
|
|
NM_013266.4(CTNNA3):c.165C>T (p.Ala55=)
|
rs141527898
|
0.00005
|
|
NM_013266.4(CTNNA3):c.1739C>T (p.Pro580Leu)
|
rs368000502
|
0.00005
|
|
NM_013266.4(CTNNA3):c.377G>A (p.Arg126His)
|
rs730880071
|
0.00005
|
|
NM_013266.4(CTNNA3):c.449A>G (p.His150Arg)
|
rs546550340
|
0.00005
|
|
NM_013266.4(CTNNA3):c.644C>T (p.Ser215Phe)
|
rs146441824
|
0.00005
|
|
NM_013266.4(CTNNA3):c.867C>G (p.Leu289=)
|
rs149090594
|
0.00005
|
|
NM_024334.3(TMEM43):c.442+12G>C
|
rs530183718
|
0.00005
|
|
NM_024334.3(TMEM43):c.679C>G (p.His227Asp)
|
rs201460674
|
0.00005
|
|
NM_024334.3(TMEM43):c.882+17A>G
|
rs370443570
|
0.00005
|
|
NM_024422.6(DSC2):c.*1972A>C
|
rs751949322
|
0.00005
|
|
NM_024422.6(DSC2):c.1069C>T (p.Arg357Cys)
|
rs879255385
|
0.00005
|
|
NM_024422.6(DSC2):c.835C>T (p.Arg279Cys)
|
rs193922708
|
0.00005
|
|
NM_000219.6(KCNE1):c.127G>A (p.Glu43Lys)
|
rs755781709
|
0.00004
|
|
NM_001005242.3(PKP2):c.*41G>A
|
rs754465954
|
0.00004
|
|
NM_001005242.3(PKP2):c.1010G>A (p.Ser337Asn)
|
rs144401285
|
0.00004
|
|
NM_001005242.3(PKP2):c.1064G>A (p.Arg355Gln)
|
rs370868564
|
0.00004
|
|
NM_001005242.3(PKP2):c.1238G>A (p.Arg413Gln)
|
rs200715477
|
0.00004
|
|
NM_001005242.3(PKP2):c.12C>T (p.Pro4=)
|
rs397516991
|
0.00004
|
|
NM_001005242.3(PKP2):c.1378+18T>C
|
rs374266697
|
0.00004
|
|
NM_001005242.3(PKP2):c.1379-1967_1379-1966del
|
rs1491439367
|
0.00004
|
|
NM_001005242.3(PKP2):c.1379-1968C>G
|
rs754530494
|
0.00004
|
|
NM_001005242.3(PKP2):c.1379-1997G>A
|
rs781072699
|
0.00004
|
|
NM_001005242.3(PKP2):c.1379-2020G>A
|
rs1415117420
|
0.00004
|
|
NM_001005242.3(PKP2):c.1379-2022G>A
|
rs111450489
|
0.00004
|
|
NM_001005242.3(PKP2):c.1379-2102C>G
|
rs762631031
|
0.00004
|
|
NM_001005242.3(PKP2):c.1452G>A (p.Thr484=)
|
rs727504098
|
0.00004
|
|
NM_001005242.3(PKP2):c.1464C>T (p.Ile488=)
|
rs145387575
|
0.00004
|
|
NM_001005242.3(PKP2):c.1537A>G (p.Asn513Asp)
|
rs200343561
|
0.00004
|
|
NM_001005242.3(PKP2):c.1556+18C>G
|
rs370617388
|
0.00004
|
|
NM_001005242.3(PKP2):c.1575C>T (p.Gly525=)
|
rs780049494
|
0.00004
|
|
NM_001005242.3(PKP2):c.1576G>A (p.Ala526Thr)
|
rs558637427
|
0.00004
|
|
NM_001005242.3(PKP2):c.1608C>T (p.Asp536=)
|
rs397517006
|
0.00004
|
|
NM_001005242.3(PKP2):c.1825A>G (p.Arg609Gly)
|
rs775103879
|
0.00004
|
|
NM_001005242.3(PKP2):c.1874G>C (p.Ser625Thr)
|
rs779926314
|
0.00004
|
|
NM_001005242.3(PKP2):c.1889T>C (p.Val630Ala)
|
rs751965920
|
0.00004
|
|
NM_001005242.3(PKP2):c.1965A>G (p.Gln655=)
|
rs727505293
|
0.00004
|
|
NM_001005242.3(PKP2):c.2001C>T (p.Ala667=)
|
rs529442984
|
0.00004
|
|
NM_001005242.3(PKP2):c.2002G>A (p.Gly668Arg)
|
rs200844640
|
0.00004
|
|
NM_001005242.3(PKP2):c.2018C>T (p.Pro673Leu)
|
rs144018320
|
0.00004
|
|
NM_001005242.3(PKP2):c.2019G>A (p.Pro673=)
|
rs147995773
|
0.00004
|
|
NM_001005242.3(PKP2):c.2090G>T (p.Gly697Val)
|
rs143503798
|
0.00004
|
|
NM_001005242.3(PKP2):c.2121G>A (p.Ser707=)
|
rs139098675
|
0.00004
|
|
NM_001005242.3(PKP2):c.213C>T (p.Ser71=)
|
rs1173618581
|
0.00004
|
|
NM_001005242.3(PKP2):c.2141G>A (p.Arg714Gln)
|
rs397517020
|
0.00004
|
|
NM_001005242.3(PKP2):c.2233A>G (p.Ile745Val)
|
rs551045165
|
0.00004
|
|
NM_001005242.3(PKP2):c.2352C>T (p.Gly784=)
|
rs727504509
|
0.00004
|
|
NM_001005242.3(PKP2):c.2357+1G>A
|
rs111517471
|
0.00004
|
|
NM_001005242.3(PKP2):c.2480G>A (p.Arg827Gln)
|
rs372263407
|
0.00004
|
|
NM_001005242.3(PKP2):c.2504T>C (p.Leu835Pro)
|
rs775572104
|
0.00004
|
|
NM_001005242.3(PKP2):c.364C>T (p.Arg122Cys)
|
rs759377911
|
0.00004
|
|
NM_001005242.3(PKP2):c.464G>C (p.Ser155Thr)
|
rs141438322
|
0.00004
|
|
NM_001005242.3(PKP2):c.468G>A (p.Pro156=)
|
rs756166702
|
0.00004
|
|
NM_001005242.3(PKP2):c.548G>A (p.Ser183Asn)
|
rs373222905
|
0.00004
|
|
NM_001005242.3(PKP2):c.634C>T (p.Arg212Cys)
|
rs766379716
|
0.00004
|
|
NM_001005242.3(PKP2):c.714G>A (p.Pro238=)
|
rs727503372
|
0.00004
|
|
NM_001005242.3(PKP2):c.789G>A (p.Thr263=)
|
rs760432217
|
0.00004
|
|
NM_001005242.3(PKP2):c.950C>T (p.Ala317Val)
|
rs775318947
|
0.00004
|
|
NM_001005242.3(PKP2):c.953A>C (p.His318Pro)
|
rs181098323
|
0.00004
|
|
NM_001005242.3(PKP2):c.963C>T (p.Val321=)
|
rs202207343
|
0.00004
|
|
NM_001035.3(RYR2):c.*218T>G
|
rs373132792
|
0.00004
|
|
NM_001035.3(RYR2):c.10035G>A (p.Arg3345=)
|
rs754976419
|
0.00004
|
|
NM_001035.3(RYR2):c.1005+7C>T
|
rs774100182
|
0.00004
|
|
NM_001035.3(RYR2):c.10452G>T (p.Gly3484=)
|
rs199498105
|
0.00004
|
|
NM_001035.3(RYR2):c.10495-14A>G
|
rs727505057
|
0.00004
|
|
NM_001035.3(RYR2):c.10640C>T (p.Thr3547Met)
|
rs552050895
|
0.00004
|
|
NM_001035.3(RYR2):c.1068C>T (p.Tyr356=)
|
rs776823422
|
0.00004
|
|
NM_001035.3(RYR2):c.11115C>T (p.Asp3705=)
|
rs752297019
|
0.00004
|
|
NM_001035.3(RYR2):c.11132T>A (p.Val3711Glu)
|
rs1036775644
|
0.00004
|
|
NM_001035.3(RYR2):c.11476+10A>C
|
rs794728702
|
0.00004
|
|
NM_001035.3(RYR2):c.11476+14dup
|
rs780419779
|
0.00004
|
|
NM_001035.3(RYR2):c.11557+15G>A
|
rs761490797
|
0.00004
|
|
NM_001035.3(RYR2):c.11647-16C>A
|
rs369311028
|
0.00004
|
|
NM_001035.3(RYR2):c.1207A>C (p.Ile403Leu)
|
rs142797573
|
0.00004
|
|
NM_001035.3(RYR2):c.12084G>A (p.Ser4028=)
|
rs751821960
|
0.00004
|
|
NM_001035.3(RYR2):c.12207T>C (p.Cys4069=)
|
rs756280887
|
0.00004
|
|
NM_001035.3(RYR2):c.12276G>A (p.Lys4092=)
|
rs974833291
|
0.00004
|
|
NM_001035.3(RYR2):c.12427A>C (p.Lys4143Gln)
|
rs750908017
|
0.00004
|
|
NM_001035.3(RYR2):c.1249C>G (p.Arg417Gly)
|
rs564822776
|
0.00004
|
|
NM_001035.3(RYR2):c.12541G>A (p.Gly4181Arg)
|
rs775477470
|
0.00004
|
|
NM_001035.3(RYR2):c.12664G>A (p.Glu4222Lys)
|
rs758453646
|
0.00004
|
|
NM_001035.3(RYR2):c.12837G>A (p.Met4279Ile)
|
rs750117613
|
0.00004
|
|
NM_001035.3(RYR2):c.12858C>T (p.Ser4286=)
|
rs185482345
|
0.00004
|
|
NM_001035.3(RYR2):c.12859T>C (p.Tyr4287His)
|
rs190009333
|
0.00004
|
|
NM_001035.3(RYR2):c.12944G>A (p.Gly4315Glu)
|
rs766109950
|
0.00004
|
|
NM_001035.3(RYR2):c.13249G>C (p.Glu4417Gln)
|
rs903232857
|
0.00004
|
|
NM_001035.3(RYR2):c.13254A>T (p.Lys4418Asn)
|
rs934659622
|
0.00004
|
|
NM_001035.3(RYR2):c.13293A>G (p.Glu4431=)
|
rs778248995
|
0.00004
|
|
NM_001035.3(RYR2):c.13398C>T (p.His4466=)
|
rs373913909
|
0.00004
|
|
NM_001035.3(RYR2):c.1358G>C (p.Ser453Thr)
|
rs761911597
|
0.00004
|
|
NM_001035.3(RYR2):c.13913+17A>G
|
rs371894104
|
0.00004
|
|
NM_001035.3(RYR2):c.147G>C (p.Leu49Phe)
|
rs727504508
|
0.00004
|
|
NM_001035.3(RYR2):c.1574C>G (p.Ser525Cys)
|
rs776188922
|
0.00004
|
|
NM_001035.3(RYR2):c.1838T>C (p.Val613Ala)
|
rs1057512489
|
0.00004
|
|
NM_001035.3(RYR2):c.2512C>G (p.Arg838Gly)
|
rs1407524067
|
0.00004
|
|
NM_001035.3(RYR2):c.2521A>G (p.Lys841Glu)
|
rs563091152
|
0.00004
|
|
NM_001035.3(RYR2):c.2545G>A (p.Asp849Asn)
|
rs372569289
|
0.00004
|
|
NM_001035.3(RYR2):c.2629C>T (p.His877Tyr)
|
rs372575878
|
0.00004
|
|
NM_001035.3(RYR2):c.2718+19T>C
|
rs773320230
|
0.00004
|
|
NM_001035.3(RYR2):c.294+15G>A
|
rs750047302
|
0.00004
|
|
NM_001035.3(RYR2):c.3025C>T (p.Arg1009Trp)
|
rs368040638
|
0.00004
|
|
NM_001035.3(RYR2):c.309G>A (p.Lys103=)
|
rs532274202
|
0.00004
|
|
NM_001035.3(RYR2):c.3372G>A (p.Pro1124=)
|
rs368017980
|
0.00004
|
|
NM_001035.3(RYR2):c.3397C>T (p.Arg1133Cys)
|
rs748085424
|
0.00004
|
|
NM_001035.3(RYR2):c.3423+10C>A
|
rs876657577
|
0.00004
|
|
NM_001035.3(RYR2):c.345C>T (p.Tyr115=)
|
rs397516525
|
0.00004
|
|
NM_001035.3(RYR2):c.3481G>C (p.Val1161Leu)
|
rs372761438
|
0.00004
|
|
NM_001035.3(RYR2):c.385-14T>C
|
rs372287944
|
0.00004
|
|
NM_001035.3(RYR2):c.3896T>C (p.Ile1299Thr)
|
rs772551383
|
0.00004
|
|
NM_001035.3(RYR2):c.3971G>C (p.Gly1324Ala)
|
rs773678614
|
0.00004
|
|
NM_001035.3(RYR2):c.4076T>C (p.Val1359Ala)
|
rs1005458283
|
0.00004
|
|
NM_001035.3(RYR2):c.4160+7A>G
|
rs377465289
|
0.00004
|
|
NM_001035.3(RYR2):c.463+18C>T
|
rs756719910
|
0.00004
|
|
NM_001035.3(RYR2):c.464-12G>A
|
rs766779504
|
0.00004
|
|
NM_001035.3(RYR2):c.4692G>A (p.Met1564Ile)
|
rs201675951
|
0.00004
|
|
NM_001035.3(RYR2):c.4707A>G (p.Gly1569=)
|
rs761012789
|
0.00004
|
|
NM_001035.3(RYR2):c.4875G>A (p.Leu1625=)
|
rs369323506
|
0.00004
|
|
NM_001035.3(RYR2):c.5004G>A (p.Gly1668=)
|
rs371085573
|
0.00004
|
|
NM_001035.3(RYR2):c.5238C>T (p.His1746=)
|
rs371966699
|
0.00004
|
|
NM_001035.3(RYR2):c.5494G>A (p.Gly1832Ser)
|
rs727504983
|
0.00004
|
|
NM_001035.3(RYR2):c.5508C>T (p.Asn1836=)
|
rs777640285
|
0.00004
|
|
NM_001035.3(RYR2):c.5515T>C (p.Leu1839=)
|
rs375521843
|
0.00004
|
|
NM_001035.3(RYR2):c.5550G>A (p.Val1850=)
|
rs764164889
|
0.00004
|
|
NM_001035.3(RYR2):c.5588C>T (p.Thr1863Met)
|
rs770863319
|
0.00004
|
|
NM_001035.3(RYR2):c.5593G>A (p.Glu1865Lys)
|
rs553819263
|
0.00004
|
|
NM_001035.3(RYR2):c.5637T>C (p.Gly1879=)
|
rs751554639
|
0.00004
|
|
NM_001035.3(RYR2):c.5662C>T (p.Arg1888Trp)
|
rs1006109370
|
0.00004
|
|
NM_001035.3(RYR2):c.5923A>G (p.Met1975Val)
|
rs200318013
|
0.00004
|
|
NM_001035.3(RYR2):c.601T>C (p.Leu201=)
|
rs752523583
|
0.00004
|
|
NM_001035.3(RYR2):c.6046T>A (p.Ser2016Thr)
|
rs575248331
|
0.00004
|
|
NM_001035.3(RYR2):c.6279C>T (p.Asp2093=)
|
rs771328006
|
0.00004
|
|
NM_001035.3(RYR2):c.6299G>A (p.Arg2100Gln)
|
rs796202631
|
0.00004
|
|
NM_001035.3(RYR2):c.6433G>C (p.Gly2145Arg)
|
rs587782974
|
0.00004
|
|
NM_001035.3(RYR2):c.677-13T>G
|
rs571476497
|
0.00004
|
|
NM_001035.3(RYR2):c.6780G>A (p.Pro2260=)
|
rs758855412
|
0.00004
|
|
NM_001035.3(RYR2):c.7076G>A (p.Arg2359Gln)
|
rs727504976
|
0.00004
|
|
NM_001035.3(RYR2):c.7201C>T (p.Arg2401Cys)
|
rs1321283106
|
0.00004
|
|
NM_001035.3(RYR2):c.7386A>G (p.Pro2462=)
|
rs546545700
|
0.00004
|
|
NM_001035.3(RYR2):c.7428T>C (p.Tyr2476=)
|
rs770823825
|
0.00004
|
|
NM_001035.3(RYR2):c.7459C>A (p.Leu2487Ile)
|
rs748581317
|
0.00004
|
|
NM_001035.3(RYR2):c.7623C>T (p.His2541=)
|
rs753435083
|
0.00004
|
|
NM_001035.3(RYR2):c.8181C>T (p.His2727=)
|
rs746562398
|
0.00004
|
|
NM_001035.3(RYR2):c.8309T>C (p.Ile2770Thr)
|
rs397516550
|
0.00004
|
|
NM_001035.3(RYR2):c.8436+15C>T
|
rs536793514
|
0.00004
|
|
NM_001035.3(RYR2):c.8591-8A>G
|
rs1369273531
|
0.00004
|
|
NM_001035.3(RYR2):c.9129-20C>G
|
rs770609583
|
0.00004
|
|
NM_001035.3(RYR2):c.9435T>C (p.Ser3145=)
|
rs774657844
|
0.00004
|
|
NM_001035.3(RYR2):c.9449+16G>A
|
rs765138478
|
0.00004
|
|
NM_001035.3(RYR2):c.9450-17G>A
|
rs575213280
|
0.00004
|
|
NM_001035.3(RYR2):c.950T>C (p.Met317Thr)
|
rs367601258
|
0.00004
|
|
NM_001035.3(RYR2):c.9736A>G (p.Met3246Val)
|
rs745839689
|
0.00004
|
|
NM_001035.3(RYR2):c.9783C>T (p.Ala3261=)
|
rs370556829
|
0.00004
|
|
NM_001035.3(RYR2):c.982G>A (p.Ala328Thr)
|
rs201669522
|
0.00004
|
|
NM_001134363.3(RBM20):c.1814C>T (p.Ala605Val)
|
rs754805893
|
0.00004
|
|
NM_001134363.3(RBM20):c.2371C>T (p.Arg791Trp)
|
rs529403382
|
0.00004
|
|
NM_001232.4(CASQ2):c.376G>C (p.Asp126His)
|
rs727502908
|
0.00004
|
|
NM_001232.4(CASQ2):c.606+12T>C
|
rs763932609
|
0.00004
|
|
NM_001232.4(CASQ2):c.738-16_738-15insC
|
rs747358070
|
0.00004
|
|
NM_001232.4(CASQ2):c.751C>T (p.Arg251Cys)
|
rs781113955
|
0.00004
|
|
NM_001232.4(CASQ2):c.924G>A (p.Pro308=)
|
rs761798969
|
0.00004
|
|
NM_001792.5(CDH2):c.14C>T (p.Ala5Val)
|
rs1284853215
|
0.00004
|
|
NM_001943.5(DSG2):c.*1136G>A
|
rs764985189
|
0.00004
|
|
NM_001943.5(DSG2):c.*806C>T
|
rs961192815
|
0.00004
|
|
NM_001943.5(DSG2):c.-33G>A
|
rs903231469
|
0.00004
|
|
NM_001943.5(DSG2):c.1063G>A (p.Ala355Thr)
|
rs201046640
|
0.00004
|
|
NM_001943.5(DSG2):c.1110T>C (p.Pro370=)
|
rs772805008
|
0.00004
|
|
NM_001943.5(DSG2):c.1204G>A (p.Asp402Asn)
|
rs397516701
|
0.00004
|
|
NM_001943.5(DSG2):c.1688T>G (p.Leu563Arg)
|
rs780469370
|
0.00004
|
|
NM_001943.5(DSG2):c.1837G>A (p.Ala613Thr)
|
rs368257724
|
0.00004
|
|
NM_001943.5(DSG2):c.1878A>G (p.Leu626=)
|
rs771576658
|
0.00004
|
|
NM_001943.5(DSG2):c.1885C>T (p.Pro629Ser)
|
rs200804638
|
0.00004
|
|
NM_001943.5(DSG2):c.1903T>C (p.Cys635Arg)
|
rs940804506
|
0.00004
|
|
NM_001943.5(DSG2):c.1911C>T (p.Cys637=)
|
rs201654341
|
0.00004
|
|
NM_001943.5(DSG2):c.1920C>T (p.Gly640=)
|
rs775642244
|
0.00004
|
|
NM_001943.5(DSG2):c.2004G>A (p.Val668=)
|
rs773645222
|
0.00004
|
|
NM_001943.5(DSG2):c.2043A>T (p.Leu681=)
|
rs780836969
|
0.00004
|
|
NM_001943.5(DSG2):c.208A>G (p.Ile70Val)
|
rs769713919
|
0.00004
|
|
NM_001943.5(DSG2):c.2328C>A (p.Phe776Leu)
|
rs771104668
|
0.00004
|
|
NM_001943.5(DSG2):c.2405A>G (p.Glu802Gly)
|
rs763315024
|
0.00004
|
|
NM_001943.5(DSG2):c.2470C>T (p.Arg824Cys)
|
rs201845396
|
0.00004
|
|
NM_001943.5(DSG2):c.2702A>G (p.Lys901Arg)
|
rs886039190
|
0.00004
|
|
NM_001943.5(DSG2):c.273A>G (p.Gly91=)
|
rs376944801
|
0.00004
|
|
NM_001943.5(DSG2):c.2906C>T (p.Ala969Val)
|
rs373598034
|
0.00004
|
|
NM_001943.5(DSG2):c.2959G>T (p.Val987Phe)
|
rs141405267
|
0.00004
|
|
NM_001943.5(DSG2):c.3118G>A (p.Val1040Ile)
|
rs201966605
|
0.00004
|
|
NM_001943.5(DSG2):c.3129T>G (p.Asn1043Lys)
|
rs727502992
|
0.00004
|
|
NM_001943.5(DSG2):c.3167C>T (p.Thr1056Ile)
|
rs767538450
|
0.00004
|
|
NM_001943.5(DSG2):c.3171G>A (p.Leu1057=)
|
rs376020729
|
0.00004
|
|
NM_001943.5(DSG2):c.3293C>G (p.Ser1098Cys)
|
rs2848673
|
0.00004
|
|
NM_001943.5(DSG2):c.390C>T (p.Tyr130=)
|
rs369489095
|
0.00004
|
|
NM_001943.5(DSG2):c.45+17G>A
|
rs752853934
|
0.00004
|
|
NM_001943.5(DSG2):c.523+6A>G
|
rs769467654
|
0.00004
|
|
NM_001943.5(DSG2):c.593A>G (p.Tyr198Cys)
|
rs786204291
|
0.00004
|
|
NM_001943.5(DSG2):c.873G>A (p.Thr291=)
|
rs760706353
|
0.00004
|
|
NM_002230.4(JUP):c.*87G>A
|
rs375989026
|
0.00004
|
|
NM_002230.4(JUP):c.1035G>C (p.Lys345Asn)
|
rs150194093
|
0.00004
|
|
NM_002230.4(JUP):c.115A>G (p.Ser39Gly)
|
rs782211863
|
0.00004
|
|
NM_002230.4(JUP):c.1219G>A (p.Val407Ile)
|
rs370913228
|
0.00004
|
|
NM_002230.4(JUP):c.1280C>T (p.Thr427Met)
|
rs781982717
|
0.00004
|
|
NM_002230.4(JUP):c.1331G>A (p.Arg444His)
|
rs369507567
|
0.00004
|
|
NM_002230.4(JUP):c.1359G>T (p.Glu453Asp)
|
rs376608339
|
0.00004
|
|
NM_002230.4(JUP):c.1371C>T (p.Cys457=)
|
rs531692563
|
0.00004
|
|
NM_002230.4(JUP):c.1486C>A (p.Pro496Thr)
|
rs1220042864
|
0.00004
|
|
NM_002230.4(JUP):c.1550C>T (p.Pro517Leu)
|
rs781988240
|
0.00004
|
|
NM_002230.4(JUP):c.161C>T (p.Thr54Met)
|
rs782529328
|
0.00004
|
|
NM_002230.4(JUP):c.162G>C (p.Thr54=)
|
rs377681053
|
0.00004
|
|
NM_002230.4(JUP):c.1653G>A (p.Thr551=)
|
rs782044013
|
0.00004
|
|
NM_002230.4(JUP):c.1715G>A (p.Arg572Gln)
|
rs397517298
|
0.00004
|
|
NM_002230.4(JUP):c.1806C>T (p.Arg602=)
|
rs781934535
|
0.00004
|
|
NM_002230.4(JUP):c.1880C>T (p.Ser627Leu)
|
rs781883243
|
0.00004
|
|
NM_002230.4(JUP):c.1882G>A (p.Ala628Thr)
|
rs730880114
|
0.00004
|
|
NM_002230.4(JUP):c.1902G>T (p.Leu634=)
|
rs145808264
|
0.00004
|
|
NM_002230.4(JUP):c.1914C>T (p.Asn638=)
|
rs368772249
|
0.00004
|
|
NM_002230.4(JUP):c.1932C>T (p.Tyr644=)
|
rs201704572
|
0.00004
|
|
NM_002230.4(JUP):c.1945C>T (p.Leu649=)
|
rs149148171
|
0.00004
|
|
NM_002230.4(JUP):c.2086+14G>A
|
rs727504485
|
0.00004
|
|
NM_002230.4(JUP):c.2104C>T (p.Arg702Cys)
|
rs545547083
|
0.00004
|
|
NM_002230.4(JUP):c.2105G>A (p.Arg702His)
|
rs200690479
|
0.00004
|
|
NM_002230.4(JUP):c.2122G>A (p.Asp708Asn)
|
rs781804177
|
0.00004
|
|
NM_002230.4(JUP):c.2128C>T (p.Pro710Ser)
|
rs782693565
|
0.00004
|
|
NM_002230.4(JUP):c.257G>A (p.Arg86Gln)
|
rs782341732
|
0.00004
|
|
NM_002230.4(JUP):c.321G>A (p.Glu107=)
|
rs781978743
|
0.00004
|
|
NM_002230.4(JUP):c.329C>T (p.Ala110Val)
|
rs782770278
|
0.00004
|
|
NM_002230.4(JUP):c.493A>G (p.Ile165Val)
|
rs782461741
|
0.00004
|
|
NM_002230.4(JUP):c.522G>A (p.Ala174=)
|
rs782745301
|
0.00004
|
|
NM_002230.4(JUP):c.607C>T (p.Arg203Cys)
|
rs147354282
|
0.00004
|
|
NM_002230.4(JUP):c.624C>G (p.Ile208Met)
|
rs566435665
|
0.00004
|
|
NM_002230.4(JUP):c.746C>T (p.Thr249Met)
|
rs377612199
|
0.00004
|
|
NM_002230.4(JUP):c.945C>T (p.Leu315=)
|
rs146804895
|
0.00004
|
|
NM_002230.4(JUP):c.966C>T (p.Tyr322=)
|
rs200952834
|
0.00004
|
|
NM_003239.5(TGFB3):c.-30G>A
|
rs770828281
|
0.00004
|
|
NM_003239.5(TGFB3):c.850C>T (p.Pro284Ser)
|
rs1018415204
|
0.00004
|
|
NM_003239.5(TGFB3):c.872C>T (p.Pro291Leu)
|
rs145121701
|
0.00004
|
|
NM_004281.4(BAG3):c.652C>T (p.Arg218Trp)
|
rs397514506
|
0.00004
|
|
NM_004415.4(DSP):c.1005A>G (p.Gln335=)
|
rs200961741
|
0.00004
|
|
NM_004415.4(DSP):c.1222A>C (p.Asn408His)
|
rs142129767
|
0.00004
|
|
NM_004415.4(DSP):c.137G>A (p.Gly46Asp)
|
rs140403872
|
0.00004
|
|
NM_004415.4(DSP):c.1413A>G (p.Gln471=)
|
rs376983987
|
0.00004
|
|
NM_004415.4(DSP):c.1418A>G (p.Gln473Arg)
|
rs746802503
|
0.00004
|
|
NM_004415.4(DSP):c.1443G>A (p.Glu481=)
|
rs149126992
|
0.00004
|
|
NM_004415.4(DSP):c.1469G>A (p.Arg490His)
|
rs747815091
|
0.00004
|
|
NM_004415.4(DSP):c.2308G>A (p.Val770Ile)
|
rs1225927424
|
0.00004
|
|
NM_004415.4(DSP):c.2317C>T (p.Leu773=)
|
rs767433534
|
0.00004
|
|
NM_004415.4(DSP):c.2360A>G (p.Tyr787Cys)
|
rs778350289
|
0.00004
|
|
NM_004415.4(DSP):c.2622C>G (p.Ile874Met)
|
rs751067479
|
0.00004
|
|
NM_004415.4(DSP):c.2631-5C>T
|
rs773772683
|
0.00004
|
|
NM_004415.4(DSP):c.264C>T (p.Ile88=)
|
rs727502997
|
0.00004
|
|
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys)
|
rs367752002
|
0.00004
|
|
NM_004415.4(DSP):c.2796C>T (p.Asn932=)
|
rs368981849
|
0.00004
|
|
NM_004415.4(DSP):c.2866A>T (p.Asn956Tyr)
|
rs397516928
|
0.00004
|
|
NM_004415.4(DSP):c.3134G>A (p.Arg1045Gln)
|
rs374263890
|
0.00004
|
|
NM_004415.4(DSP):c.3684A>C (p.Lys1228Asn)
|
rs765645957
|
0.00004
|
|
NM_004415.4(DSP):c.3863A>G (p.Lys1288Arg)
|
rs746482538
|
0.00004
|
|
NM_004415.4(DSP):c.3904C>T (p.Arg1302Cys)
|
rs775594375
|
0.00004
|
|
NM_004415.4(DSP):c.4199G>A (p.Arg1400Gln)
|
rs748109826
|
0.00004
|
|
NM_004415.4(DSP):c.4490G>A (p.Arg1497Gln)
|
rs727505037
|
0.00004
|
|
NM_004415.4(DSP):c.4696C>G (p.Leu1566Val)
|
rs201785897
|
0.00004
|
|
NM_004415.4(DSP):c.4752G>A (p.Ala1584=)
|
rs201213622
|
0.00004
|
|
NM_004415.4(DSP):c.4819G>A (p.Glu1607Lys)
|
rs750054075
|
0.00004
|
|
NM_004415.4(DSP):c.4915G>A (p.Val1639Met)
|
rs539587517
|
0.00004
|
|
NM_004415.4(DSP):c.4996C>T (p.Arg1666Trp)
|
rs758312365
|
0.00004
|
|
NM_004415.4(DSP):c.4997G>A (p.Arg1666Gln)
|
rs768577891
|
0.00004
|
|
NM_004415.4(DSP):c.5173C>T (p.Arg1725Trp)
|
rs200336897
|
0.00004
|
|
NM_004415.4(DSP):c.5194G>A (p.Asp1732Asn)
|
rs780224658
|
0.00004
|
|
NM_004415.4(DSP):c.5222C>T (p.Ala1741Val)
|
rs749124581
|
0.00004
|
|
NM_004415.4(DSP):c.5522C>T (p.Ser1841Leu)
|
rs397516947
|
0.00004
|
|
NM_004415.4(DSP):c.5554C>T (p.Arg1852Cys)
|
rs550818559
|
0.00004
|
|
NM_004415.4(DSP):c.5668A>G (p.Arg1890Gly)
|
rs762079110
|
0.00004
|
|
NM_004415.4(DSP):c.5795G>A (p.Arg1932His)
|
rs770522444
|
0.00004
|
|
NM_004415.4(DSP):c.5839T>C (p.Tyr1947His)
|
rs767259019
|
0.00004
|
|
NM_004415.4(DSP):c.596G>A (p.Arg199Lys)
|
rs143648545
|
0.00004
|
|
NM_004415.4(DSP):c.598-4G>A
|
rs747448946
|
0.00004
|
|
NM_004415.4(DSP):c.6240C>T (p.Phe2080=)
|
rs757650857
|
0.00004
|
|
NM_004415.4(DSP):c.6442G>A (p.Ala2148Thr)
|
rs144539278
|
0.00004
|
|
NM_004415.4(DSP):c.6595C>T (p.Leu2199Phe)
|
rs549451471
|
0.00004
|
|
NM_004415.4(DSP):c.7035A>G (p.Gly2345=)
|
rs780379988
|
0.00004
|
|
NM_004415.4(DSP):c.7128G>T (p.Gly2376=)
|
rs756684406
|
0.00004
|
|
NM_004415.4(DSP):c.7332G>T (p.Leu2444=)
|
rs1330371919
|
0.00004
|
|
NM_004415.4(DSP):c.7738G>T (p.Asp2580Tyr)
|
rs371129517
|
0.00004
|
|
NM_004415.4(DSP):c.7970C>T (p.Thr2657Ile)
|
rs1478775642
|
0.00004
|
|
NM_004415.4(DSP):c.8084T>A (p.Phe2695Tyr)
|
rs764994940
|
0.00004
|
|
NM_004415.4(DSP):c.8117A>T (p.Lys2706Met)
|
rs537588390
|
0.00004
|
|
NM_004415.4(DSP):c.8209G>C (p.Val2737Leu)
|
rs149123428
|
0.00004
|
|
NM_004415.4(DSP):c.8229G>A (p.Gly2743=)
|
rs1060503979
|
0.00004
|
|
NM_004415.4(DSP):c.8259G>A (p.Lys2753=)
|
rs1005570207
|
0.00004
|
|
NM_004415.4(DSP):c.8500C>T (p.Arg2834Cys)
|
rs753033333
|
0.00004
|
|
NM_004415.4(DSP):c.8590T>C (p.Phe2864Leu)
|
rs764514210
|
0.00004
|
|
NM_004415.4(DSP):c.939C>T (p.Ser313=)
|
rs766580649
|
0.00004
|
|
NM_004628.5(XPC):c.*133G>A
|
rs377250919
|
0.00004
|
|
NM_006073.4(TRDN):c.1011G>A (p.Lys337=)
|
rs886039062
|
0.00004
|
|
NM_006073.4(TRDN):c.1035T>C (p.Ile345=)
|
rs376370234
|
0.00004
|
|
NM_006073.4(TRDN):c.1136-1G>A
|
rs769776218
|
0.00004
|
|
NM_006073.4(TRDN):c.1156C>A (p.Pro386Thr)
|
rs555383967
|
0.00004
|
|
NM_006073.4(TRDN):c.1219+4A>G
|
rs189551080
|
0.00004
|
|
NM_006073.4(TRDN):c.1322-10T>A
|
rs764565579
|
0.00004
|
|
NM_006073.4(TRDN):c.1420+20A>G
|
rs1274691409
|
0.00004
|
|
NM_006073.4(TRDN):c.1568-4T>A
|
rs764779610
|
0.00004
|
|
NM_006073.4(TRDN):c.1589C>G (p.Ala530Gly)
|
rs367716594
|
0.00004
|
|
NM_006073.4(TRDN):c.1598-6T>G
|
rs554635684
|
0.00004
|
|
NM_006073.4(TRDN):c.1683T>C (p.Val561=)
|
rs777229118
|
0.00004
|
|
NM_006073.4(TRDN):c.1932A>G (p.Gln644=)
|
rs976397587
|
0.00004
|
|
NM_006073.4(TRDN):c.1967G>A (p.Arg656Lys)
|
rs1028703114
|
0.00004
|
|
NM_006073.4(TRDN):c.2131C>T (p.Arg711Cys)
|
rs373408498
|
0.00004
|
|
NM_006073.4(TRDN):c.2132G>A (p.Arg711His)
|
rs763375903
|
0.00004
|
|
NM_006073.4(TRDN):c.2135C>T (p.Pro712Leu)
|
rs761888858
|
0.00004
|
|
NM_006073.4(TRDN):c.2138G>A (p.Gly713Glu)
|
rs536487170
|
0.00004
|
|
NM_006073.4(TRDN):c.2179C>T (p.Gln727Ter)
|
rs201041981
|
0.00004
|
|
NM_006073.4(TRDN):c.348T>G (p.Ser116=)
|
rs746361154
|
0.00004
|
|
NM_006073.4(TRDN):c.352G>T (p.Asp118Tyr)
|
rs762075230
|
0.00004
|
|
NM_006073.4(TRDN):c.376G>A (p.Glu126Lys)
|
rs539743603
|
0.00004
|
|
NM_006073.4(TRDN):c.540T>C (p.Pro180=)
|
rs765743451
|
0.00004
|
|
NM_006073.4(TRDN):c.575A>C (p.Lys192Thr)
|
rs777796676
|
0.00004
|
|
NM_006073.4(TRDN):c.825C>T (p.Asp275=)
|
rs375079402
|
0.00004
|
|
NM_006073.4(TRDN):c.991G>A (p.Glu331Lys)
|
rs763851599
|
0.00004
|
|
NM_013266.4(CTNNA3):c.1048-18G>A
|
rs777458138
|
0.00004
|
|
NM_013266.4(CTNNA3):c.1215T>C (p.Asn405=)
|
rs775938724
|
0.00004
|
|
NM_013266.4(CTNNA3):c.1674C>T (p.Tyr558=)
|
rs757471865
|
0.00004
|
|
NM_013266.4(CTNNA3):c.1721T>C (p.Leu574Pro)
|
rs375428912
|
0.00004
|
|
NM_013266.4(CTNNA3):c.1800G>A (p.Val600=)
|
rs137910578
|
0.00004
|
|
NM_013266.4(CTNNA3):c.1823A>T (p.Asp608Val)
|
rs138314889
|
0.00004
|
|
NM_013266.4(CTNNA3):c.1841A>G (p.Tyr614Cys)
|
rs770893892
|
0.00004
|
|
NM_013266.4(CTNNA3):c.1884+7T>G
|
rs762826132
|
0.00004
|
|
NM_013266.4(CTNNA3):c.2054G>A (p.Ser685Asn)
|
rs774933459
|
0.00004
|
|
NM_013266.4(CTNNA3):c.2259T>C (p.Ala753=)
|
rs761705979
|
0.00004
|
|
NM_013266.4(CTNNA3):c.2401-11T>G
|
rs761888151
|
0.00004
|
|
NM_013266.4(CTNNA3):c.2404G>T (p.Asp802Tyr)
|
rs530727340
|
0.00004
|
|
NM_013266.4(CTNNA3):c.264G>A (p.Thr88=)
|
rs752481842
|
0.00004
|
|
NM_013266.4(CTNNA3):c.794C>T (p.Pro265Leu)
|
rs151069922
|
0.00004
|
|
NM_013266.4(CTNNA3):c.822A>C (p.Gly274=)
|
rs779601781
|
0.00004
|
|
NM_013266.4(CTNNA3):c.959C>T (p.Thr320Met)
|
rs139460414
|
0.00004
|
|
NM_013266.4(CTNNA3):c.973C>T (p.Arg325Ter)
|
rs369024617
|
0.00004
|
|
NM_013266.4(CTNNA3):c.980G>A (p.Arg327Gln)
|
rs748583513
|
0.00004
|
|
NM_024334.3(TMEM43):c.1021C>T (p.Arg341Ter)
|
rs778127887
|
0.00004
|
|
NM_024334.3(TMEM43):c.1026C>A (p.Asp342Glu)
|
rs376514478
|
0.00004
|
|
NM_024334.3(TMEM43):c.121A>G (p.Met41Val)
|
rs144334386
|
0.00004
|
|
NM_024334.3(TMEM43):c.166C>T (p.Arg56Cys)
|
rs201094625
|
0.00004
|
|
NM_024334.3(TMEM43):c.206C>T (p.Ser69Leu)
|
rs369779779
|
0.00004
|
|
NM_024334.3(TMEM43):c.231C>G (p.Ile77Met)
|
rs899266809
|
0.00004
|
|
NM_024334.3(TMEM43):c.310C>G (p.Pro104Ala)
|
rs775872602
|
0.00004
|
|
NM_024334.3(TMEM43):c.402C>T (p.Thr134=)
|
rs370422391
|
0.00004
|
|
NM_024334.3(TMEM43):c.413A>G (p.Gln138Arg)
|
rs397517384
|
0.00004
|
|
NM_024334.3(TMEM43):c.447dup (p.Glu150Ter)
|
rs1423539317
|
0.00004
|
|
NM_024334.3(TMEM43):c.487C>T (p.Arg163Ter)
|
rs147336367
|
0.00004
|
|
NM_024334.3(TMEM43):c.518T>C (p.Met173Thr)
|
rs373023080
|
0.00004
|
|
NM_024334.3(TMEM43):c.579G>A (p.Ser193=)
|
rs369319499
|
0.00004
|
|
NM_024334.3(TMEM43):c.624A>G (p.Leu208=)
|
rs527942696
|
0.00004
|
|
NM_024334.3(TMEM43):c.705+11A>T
|
rs960038220
|
0.00004
|
|
NM_024334.3(TMEM43):c.742C>A (p.Leu248Met)
|
rs780389237
|
0.00004
|
|
NM_024334.3(TMEM43):c.750C>T (p.Gly250=)
|
rs374222050
|
0.00004
|
|
NM_024334.3(TMEM43):c.947G>C (p.Trp316Ser)
|
rs199526104
|
0.00004
|
|
NM_024422.6(DSC2):c.*1346T>A
|
rs1029495207
|
0.00004
|
|
NM_024422.6(DSC2):c.*1444A>G
|
rs886053684
|
0.00004
|
|
NM_024422.6(DSC2):c.-187C>T
|
rs562293556
|
0.00004
|
|
NM_024422.6(DSC2):c.1034T>C (p.Ile345Thr)
|
rs777688726
|
0.00004
|
|
NM_024422.6(DSC2):c.1176T>C (p.Asn392=)
|
rs769365346
|
0.00004
|
|
NM_024422.6(DSC2):c.1308T>C (p.Gly436=)
|
rs762786487
|
0.00004
|
|
NM_024422.6(DSC2):c.1552G>C (p.Val518Leu)
|
rs397517394
|
0.00004
|
|
NM_024422.6(DSC2):c.160C>T (p.Leu54=)
|
rs149347582
|
0.00004
|
|
NM_024422.6(DSC2):c.1776G>A (p.Ala592=)
|
rs727502980
|
0.00004
|
|
NM_024422.6(DSC2):c.2175A>C (p.Pro725=)
|
rs921649870
|
0.00004
|
|
NM_024422.6(DSC2):c.2191G>A (p.Asp731Asn)
|
rs762055797
|
0.00004
|
|
NM_024422.6(DSC2):c.2202G>A (p.Gln734=)
|
rs775922060
|
0.00004
|
|
NM_024422.6(DSC2):c.2208C>T (p.Asn736=)
|
rs727504534
|
0.00004
|
|
NM_024422.6(DSC2):c.2251-20G>A
|
rs779900062
|
0.00004
|
|
NM_024422.6(DSC2):c.2335G>A (p.Gly779Arg)
|
rs139290300
|
0.00004
|
|
NM_024422.6(DSC2):c.2366G>A (p.Gly789Glu)
|
rs766828422
|
0.00004
|
|
NM_024422.6(DSC2):c.239A>G (p.Tyr80Cys)
|
rs369761766
|
0.00004
|
|
NM_024422.6(DSC2):c.2509-16T>C
|
rs978907622
|
0.00004
|
|
NM_024422.6(DSC2):c.2576A>G (p.Tyr859Cys)
|
rs758950880
|
0.00004
|
|
NM_024422.6(DSC2):c.2591C>T (p.Ser864Leu)
|
rs202031070
|
0.00004
|
|
NM_024422.6(DSC2):c.286A>G (p.Ile96Val)
|
rs772447450
|
0.00004
|
|
NM_024422.6(DSC2):c.397G>A (p.Ala133Thr)
|
rs200218585
|
0.00004
|
|
NM_024422.6(DSC2):c.408A>G (p.Arg136=)
|
rs561653481
|
0.00004
|
|
NM_024422.6(DSC2):c.490G>A (p.Ala164Thr)
|
rs978623916
|
0.00004
|
|
NM_024422.6(DSC2):c.630+15G>A
|
rs201596999
|
0.00004
|
|
NM_024422.6(DSC2):c.669A>G (p.Pro223=)
|
rs923697621
|
0.00004
|
|
NM_024422.6(DSC2):c.69+18C>T
|
rs1274405499
|
0.00004
|
|
NM_024422.6(DSC2):c.69+8T>C
|
rs921767833
|
0.00004
|
|
NM_024422.6(DSC2):c.70-7T>G
|
rs184341263
|
0.00004
|
|
NM_024422.6(DSC2):c.776-12T>G
|
rs397517403
|
0.00004
|
|
NM_000257.4(MYH7):c.2599G>A (p.Glu867Lys)
|
rs558673680
|
0.00003
|
|
NM_001005242.3(PKP2):c.*227T>C
|
rs886049317
|
0.00003
|
|
NM_001005242.3(PKP2):c.1035-11del
|
rs1393167652
|
0.00003
|
|
NM_001005242.3(PKP2):c.1080C>T (p.Leu360=)
|
rs397516984
|
0.00003
|
|
NM_001005242.3(PKP2):c.1379-2011G>A
|
rs140301552
|
0.00003
|
|
NM_001005242.3(PKP2):c.1379-2056C>T
|
rs749052785
|
0.00003
|
|
NM_001005242.3(PKP2):c.1404T>A (p.Asn468Lys)
|
rs1208347768
|
0.00003
|
|
NM_001005242.3(PKP2):c.146A>G (p.Gln49Arg)
|
rs763492084
|
0.00003
|
|
NM_001005242.3(PKP2):c.1519G>A (p.Asp507Asn)
|
rs763427502
|
0.00003
|
|
NM_001005242.3(PKP2):c.1528A>G (p.Ile510Val)
|
rs397517002
|
0.00003
|
|
NM_001005242.3(PKP2):c.1557-1G>C
|
rs78897684
|
0.00003
|
|
NM_001005242.3(PKP2):c.1679C>T (p.Thr560Met)
|
rs373360192
|
0.00003
|
|
NM_001005242.3(PKP2):c.1796A>G (p.Lys599Arg)
|
rs533659697
|
0.00003
|
|
NM_001005242.3(PKP2):c.1819C>T (p.Arg607Ter)
|
rs751288871
|
0.00003
|
|
NM_001005242.3(PKP2):c.1945A>G (p.Ser649Gly)
|
rs375295635
|
0.00003
|
|
NM_001005242.3(PKP2):c.1948G>A (p.Val650Ile)
|
rs747525514
|
0.00003
|
|
NM_001005242.3(PKP2):c.1968A>T (p.Glu656Asp)
|
rs879210282
|
0.00003
|
|
NM_001005242.3(PKP2):c.1998G>A (p.Thr666=)
|
rs371089832
|
0.00003
|
|
NM_001005242.3(PKP2):c.19C>T (p.Pro7Ser)
|
rs764645176
|
0.00003
|
|
NM_001005242.3(PKP2):c.2014-1G>C
|
rs193922674
|
0.00003
|
|
NM_001005242.3(PKP2):c.2081T>G (p.Leu694Arg)
|
rs794729115
|
0.00003
|
|
NM_001005242.3(PKP2):c.2168-20T>G
|
rs759180353
|
0.00003
|
|
NM_001005242.3(PKP2):c.223G>A (p.Gly75Arg)
|
rs765852160
|
0.00003
|
|
NM_001005242.3(PKP2):c.224-8G>T
|
rs1486692885
|
0.00003
|
|
NM_001005242.3(PKP2):c.236G>A (p.Arg79Gln)
|
rs766802880
|
0.00003
|
|
NM_001005242.3(PKP2):c.2372A>G (p.Lys791Arg)
|
rs372729739
|
0.00003
|
|
NM_001005242.3(PKP2):c.2405C>T (p.Ser802Phe)
|
rs768808114
|
0.00003
|
|
NM_001005242.3(PKP2):c.2487C>T (p.Ala829=)
|
rs747191995
|
0.00003
|
|
NM_001005242.3(PKP2):c.259G>C (p.Val87Leu)
|
rs750028032
|
0.00003
|
|
NM_001005242.3(PKP2):c.293T>C (p.Val98Ala)
|
rs775434969
|
0.00003
|
|
NM_001005242.3(PKP2):c.360A>G (p.Glu120=)
|
rs764868621
|
0.00003
|
|
NM_001005242.3(PKP2):c.591C>T (p.Ser197=)
|
rs769438623
|
0.00003
|
|
NM_001005242.3(PKP2):c.611G>A (p.Arg204His)
|
rs755215178
|
0.00003
|
|
NM_001035.3(RYR2):c.*338C>T
|
rs879161531
|
0.00003
|
|
NM_001035.3(RYR2):c.*781T>A
|
rs139272315
|
0.00003
|
|
NM_001035.3(RYR2):c.*946C>T
|
rs762908336
|
0.00003
|
|
NM_001035.3(RYR2):c.1024G>A (p.Val342Met)
|
rs371898166
|
0.00003
|
|
NM_001035.3(RYR2):c.10323+16G>A
|
rs961862052
|
0.00003
|
|
NM_001035.3(RYR2):c.10495-10T>C
|
rs750850264
|
0.00003
|
|
NM_001035.3(RYR2):c.10709G>A (p.Arg3570Gln)
|
rs751520590
|
0.00003
|
|
NM_001035.3(RYR2):c.10725+9A>C
|
rs747973819
|
0.00003
|
|
NM_001035.3(RYR2):c.1092A>C (p.Gln364His)
|
rs763183698
|
0.00003
|
|
NM_001035.3(RYR2):c.10936-13G>T
|
rs376086028
|
0.00003
|
|
NM_001035.3(RYR2):c.11208G>C (p.Ala3736=)
|
rs750384592
|
0.00003
|
|
NM_001035.3(RYR2):c.11497G>A (p.Asp3833Asn)
|
rs768711283
|
0.00003
|
|
NM_001035.3(RYR2):c.1154G>C (p.Gly385Ala)
|
rs373148638
|
0.00003
|
|
NM_001035.3(RYR2):c.1165C>T (p.Arg389Cys)
|
rs376135032
|
0.00003
|
|
NM_001035.3(RYR2):c.1171-14T>G
|
rs751389436
|
0.00003
|
|
NM_001035.3(RYR2):c.1172C>G (p.Ala391Gly)
|
rs374306538
|
0.00003
|
|
NM_001035.3(RYR2):c.11730C>T (p.Ile3910=)
|
rs764373699
|
0.00003
|
|
NM_001035.3(RYR2):c.11877G>A (p.Ser3959=)
|
rs754610647
|
0.00003
|
|
NM_001035.3(RYR2):c.11G>C (p.Gly4Ala)
|
rs866878858
|
0.00003
|
|
NM_001035.3(RYR2):c.12027C>T (p.Asn4009=)
|
rs763374929
|
0.00003
|
|
NM_001035.3(RYR2):c.12075T>C (p.Asp4025=)
|
rs570554092
|
0.00003
|
|
NM_001035.3(RYR2):c.12241G>A (p.Glu4081Lys)
|
rs763004638
|
0.00003
|
|
NM_001035.3(RYR2):c.1241G>A (p.Arg414His)
|
rs371121679
|
0.00003
|
|
NM_001035.3(RYR2):c.12540C>T (p.Gly4180=)
|
rs772125105
|
0.00003
|
|
NM_001035.3(RYR2):c.12658G>A (p.Glu4220Lys)
|
rs753433827
|
0.00003
|
|
NM_001035.3(RYR2):c.13044G>A (p.Glu4348=)
|
rs559197657
|
0.00003
|
|
NM_001035.3(RYR2):c.13175A>G (p.Lys4392Arg)
|
rs753733164
|
0.00003
|
|
NM_001035.3(RYR2):c.1324G>T (p.Ala442Ser)
|
rs747344666
|
0.00003
|
|
NM_001035.3(RYR2):c.13327G>A (p.Glu4443Lys)
|
rs1409192667
|
0.00003
|
|
NM_001035.3(RYR2):c.13406G>C (p.Arg4469Thr)
|
rs759882217
|
0.00003
|
|
NM_001035.3(RYR2):c.13593G>A (p.Lys4531=)
|
rs548313130
|
0.00003
|
|
NM_001035.3(RYR2):c.13666G>A (p.Ala4556Thr)
|
rs189345192
|
0.00003
|
|
NM_001035.3(RYR2):c.13672C>T (p.His4558Tyr)
|
rs773264033
|
0.00003
|
|
NM_001035.3(RYR2):c.14152-15G>A
|
rs371785571
|
0.00003
|
|
NM_001035.3(RYR2):c.14167G>A (p.Ala4723Thr)
|
rs397516514
|
0.00003
|
|
NM_001035.3(RYR2):c.14493C>T (p.Ile4831=)
|
rs375456172
|
0.00003
|
|
NM_001035.3(RYR2):c.14694C>T (p.Phe4898=)
|
rs542501813
|
0.00003
|
|
NM_001035.3(RYR2):c.1477-8C>T
|
rs876657575
|
0.00003
|
|
NM_001035.3(RYR2):c.1665C>T (p.Leu555=)
|
rs371262363
|
0.00003
|
|
NM_001035.3(RYR2):c.1674G>A (p.Leu558=)
|
rs1324895345
|
0.00003
|
|
NM_001035.3(RYR2):c.1773A>G (p.Glu591=)
|
rs1187362255
|
0.00003
|
|
NM_001035.3(RYR2):c.1789A>G (p.Ile597Val)
|
rs770408945
|
0.00003
|
|
NM_001035.3(RYR2):c.1962-13C>T
|
rs549804448
|
0.00003
|
|
NM_001035.3(RYR2):c.2203+4C>T
|
rs371445192
|
0.00003
|
|
NM_001035.3(RYR2):c.2396+10T>C
|
rs745329806
|
0.00003
|
|
NM_001035.3(RYR2):c.2544C>T (p.Arg848=)
|
rs748097250
|
0.00003
|
|
NM_001035.3(RYR2):c.2617G>A (p.Val873Met)
|
rs369248015
|
0.00003
|
|
NM_001035.3(RYR2):c.274-3C>T
|
rs776347774
|
0.00003
|
|
NM_001035.3(RYR2):c.294+3A>G
|
rs1321804058
|
0.00003
|
|
NM_001035.3(RYR2):c.2951G>A (p.Ser984Asn)
|
rs730880188
|
0.00003
|
|
NM_001035.3(RYR2):c.295A>C (p.Lys99Gln)
|
rs1172697175
|
0.00003
|
|
NM_001035.3(RYR2):c.3214+7T>G
|
rs748941127
|
0.00003
|
|
NM_001035.3(RYR2):c.3243C>T (p.Thr1081=)
|
rs771680871
|
0.00003
|
|
NM_001035.3(RYR2):c.3270C>G (p.Ala1090=)
|
rs1344074824
|
0.00003
|
|
NM_001035.3(RYR2):c.3361G>C (p.Gly1121Arg)
|
rs199682282
|
0.00003
|
|
NM_001035.3(RYR2):c.336A>G (p.Thr112=)
|
rs536426427
|
0.00003
|
|
NM_001035.3(RYR2):c.3423+6T>G
|
rs1057521957
|
0.00003
|
|
NM_001035.3(RYR2):c.3460C>T (p.Arg1154Cys)
|
rs765617616
|
0.00003
|
|
NM_001035.3(RYR2):c.348A>G (p.Gly116=)
|
rs775744289
|
0.00003
|
|
NM_001035.3(RYR2):c.3660T>A (p.Asp1220Glu)
|
rs1019112544
|
0.00003
|
|
NM_001035.3(RYR2):c.3808-10C>T
|
rs779454549
|
0.00003
|
|
NM_001035.3(RYR2):c.3822C>T (p.Asp1274=)
|
rs761365777
|
0.00003
|
|
NM_001035.3(RYR2):c.3827C>T (p.Thr1276Ile)
|
rs762899950
|
0.00003
|
|
NM_001035.3(RYR2):c.385-17del
|
rs771168005
|
0.00003
|
|
NM_001035.3(RYR2):c.4276-16T>C
|
rs772146128
|
0.00003
|
|
NM_001035.3(RYR2):c.4410A>G (p.Gly1470=)
|
rs727503399
|
0.00003
|
|
NM_001035.3(RYR2):c.464-13C>T
|
rs372610981
|
0.00003
|
|
NM_001035.3(RYR2):c.4684-6C>T
|
rs755712032
|
0.00003
|
|
NM_001035.3(RYR2):c.4689G>A (p.Val1563=)
|
rs1259232031
|
0.00003
|
|
NM_001035.3(RYR2):c.4802A>G (p.Asn1601Ser)
|
rs1474971861
|
0.00003
|
|
NM_001035.3(RYR2):c.4829G>A (p.Arg1610Gln)
|
rs764687833
|
0.00003
|
|
NM_001035.3(RYR2):c.5001T>C (p.Leu1667=)
|
rs397516537
|
0.00003
|
|
NM_001035.3(RYR2):c.5011C>T (p.Arg1671Trp)
|
rs747404408
|
0.00003
|
|
NM_001035.3(RYR2):c.5021A>G (p.His1674Arg)
|
rs771414167
|
0.00003
|
|
NM_001035.3(RYR2):c.5066T>C (p.Ile1689Thr)
|
rs763907583
|
0.00003
|
|
NM_001035.3(RYR2):c.5169C>T (p.Asn1723=)
|
rs772441741
|
0.00003
|
|
NM_001035.3(RYR2):c.5278C>T (p.Arg1760Trp)
|
rs776550479
|
0.00003
|
|
NM_001035.3(RYR2):c.5371A>G (p.Thr1791Ala)
|
rs1025023837
|
0.00003
|
|
NM_001035.3(RYR2):c.5570C>T (p.Pro1857Leu)
|
rs568198475
|
0.00003
|
|
NM_001035.3(RYR2):c.5761C>T (p.Arg1921Trp)
|
rs760010432
|
0.00003
|
|
NM_001035.3(RYR2):c.5762G>A (p.Arg1921Gln)
|
rs370568809
|
0.00003
|
|
NM_001035.3(RYR2):c.5774T>C (p.Ile1925Thr)
|
rs761505396
|
0.00003
|
|
NM_001035.3(RYR2):c.6158A>G (p.Lys2053Arg)
|
rs771590345
|
0.00003
|
|
NM_001035.3(RYR2):c.6172C>T (p.Leu2058=)
|
rs756447467
|
0.00003
|
|
NM_001035.3(RYR2):c.6232C>T (p.Pro2078Ser)
|
rs780993255
|
0.00003
|
|
NM_001035.3(RYR2):c.6441-15C>T
|
rs747176905
|
0.00003
|
|
NM_001035.3(RYR2):c.6627G>A (p.Gln2209=)
|
rs373686520
|
0.00003
|
|
NM_001035.3(RYR2):c.6772C>T (p.Arg2258Cys)
|
rs757350594
|
0.00003
|
|
NM_001035.3(RYR2):c.6936T>C (p.Ser2312=)
|
rs1282237936
|
0.00003
|
|
NM_001035.3(RYR2):c.708G>A (p.Leu236=)
|
rs773746218
|
0.00003
|
|
NM_001035.3(RYR2):c.7098C>T (p.Ser2366=)
|
rs375631485
|
0.00003
|
|
NM_001035.3(RYR2):c.719A>G (p.His240Arg)
|
rs369512347
|
0.00003
|
|
NM_001035.3(RYR2):c.7342+4A>T
|
rs771358777
|
0.00003
|
|
NM_001035.3(RYR2):c.7354G>A (p.Val2452Met)
|
rs377136047
|
0.00003
|
|
NM_001035.3(RYR2):c.7493C>T (p.Ala2498Val)
|
rs374191985
|
0.00003
|
|
NM_001035.3(RYR2):c.7512+13C>T
|
rs777383641
|
0.00003
|
|
NM_001035.3(RYR2):c.7624G>T (p.Ala2542Ser)
|
rs373602064
|
0.00003
|
|
NM_001035.3(RYR2):c.8041A>T (p.Met2681Leu)
|
rs768547151
|
0.00003
|
|
NM_001035.3(RYR2):c.8209-12C>A
|
rs767601681
|
0.00003
|
|
NM_001035.3(RYR2):c.8209-4T>C
|
rs371966353
|
0.00003
|
|
NM_001035.3(RYR2):c.8262G>C (p.Gln2754His)
|
rs773748242
|
0.00003
|
|
NM_001035.3(RYR2):c.837G>A (p.Thr279=)
|
rs769682840
|
0.00003
|
|
NM_001035.3(RYR2):c.8436+9T>G
|
rs371760672
|
0.00003
|
|
NM_001035.3(RYR2):c.849-13C>T
|
rs757524222
|
0.00003
|
|
NM_001035.3(RYR2):c.8515-7A>G
|
rs766622060
|
0.00003
|
|
NM_001035.3(RYR2):c.8913T>C (p.Ile2971=)
|
rs755520825
|
0.00003
|
|
NM_001035.3(RYR2):c.8936G>A (p.Arg2979His)
|
rs753179691
|
0.00003
|
|
NM_001035.3(RYR2):c.9018-11T>C
|
rs781149223
|
0.00003
|
|
NM_001035.3(RYR2):c.9189C>T (p.Asn3063=)
|
rs531651646
|
0.00003
|
|
NM_001035.3(RYR2):c.926T>C (p.Met309Thr)
|
rs542853582
|
0.00003
|
|
NM_001035.3(RYR2):c.9418T>G (p.Leu3140Val)
|
rs796586893
|
0.00003
|
|
NM_001035.3(RYR2):c.9441C>T (p.Tyr3147=)
|
rs760338814
|
0.00003
|
|
NM_001035.3(RYR2):c.953A>G (p.Asp318Gly)
|
rs1268335647
|
0.00003
|
|
NM_001035.3(RYR2):c.9755A>G (p.His3252Arg)
|
rs760379293
|
0.00003
|
|
NM_001035.3(RYR2):c.9996G>A (p.Thr3332=)
|
rs760131228
|
0.00003
|
|
NM_001232.4(CASQ2):c.1097T>C (p.Leu366Pro)
|
rs762153545
|
0.00003
|
|
NM_001232.4(CASQ2):c.1188T>C (p.Asp396=)
|
rs751885773
|
0.00003
|
|
NM_001232.4(CASQ2):c.141G>C (p.Lys47Asn)
|
rs1553197917
|
0.00003
|
|
NM_001232.4(CASQ2):c.175C>T (p.Pro59Ser)
|
rs866858282
|
0.00003
|
|
NM_001232.4(CASQ2):c.234+3A>G
|
rs727502909
|
0.00003
|
|
NM_001232.4(CASQ2):c.421-7A>T
|
rs776008006
|
0.00003
|
|
NM_001232.4(CASQ2):c.491A>G (p.Tyr164Cys)
|
rs72554062
|
0.00003
|
|
NM_001232.4(CASQ2):c.627G>A (p.Leu209=)
|
rs1291884749
|
0.00003
|
|
NM_001232.4(CASQ2):c.650A>G (p.Tyr217Cys)
|
rs373227317
|
0.00003
|
|
NM_001232.4(CASQ2):c.681C>T (p.Ile227=)
|
rs769189583
|
0.00003
|
|
NM_001232.4(CASQ2):c.752G>A (p.Arg251His)
|
rs200265771
|
0.00003
|
|
NM_001232.4(CASQ2):c.878G>A (p.Arg293Gln)
|
rs377691566
|
0.00003
|
|
NM_001232.4(CASQ2):c.923C>T (p.Pro308Leu)
|
rs139228801
|
0.00003
|
|
NM_001232.4(CASQ2):c.943G>A (p.Val315Ile)
|
rs771188512
|
0.00003
|
|
NM_001232.4(CASQ2):c.979T>C (p.Phe327Leu)
|
rs976749091
|
0.00003
|
|
NM_001267550.2(TTN):c.39056C>T (p.Pro13019Leu)
|
rs763845436
|
0.00003
|
|
NM_001943.4(DSG2):c.-156G>A
|
rs886053707
|
0.00003
|
|
NM_001943.5(DSG2):c.1119T>C (p.Ile373=)
|
rs770547012
|
0.00003
|
|
NM_001943.5(DSG2):c.1194C>T (p.Ser398=)
|
rs770669833
|
0.00003
|
|
NM_001943.5(DSG2):c.122A>T (p.His41Leu)
|
rs777373864
|
0.00003
|
|
NM_001943.5(DSG2):c.1303G>A (p.Asp435Asn)
|
rs370509593
|
0.00003
|
|
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys)
|
rs576404380
|
0.00003
|
|
NM_001943.5(DSG2):c.1418C>T (p.Ser473Leu)
|
rs774607590
|
0.00003
|
|
NM_001943.5(DSG2):c.1481A>C (p.Asp494Ala)
|
rs193298428
|
0.00003
|
|
NM_001943.5(DSG2):c.1524C>T (p.His508=)
|
rs560004953
|
0.00003
|
|
NM_001943.5(DSG2):c.1536T>C (p.Tyr512=)
|
rs952187023
|
0.00003
|
|
NM_001943.5(DSG2):c.1555G>T (p.Asp519Tyr)
|
rs778119035
|
0.00003
|
|
NM_001943.5(DSG2):c.1642C>T (p.Arg548Cys)
|
rs550400909
|
0.00003
|
|
NM_001943.5(DSG2):c.1792G>A (p.Gly598Ser)
|
rs773666300
|
0.00003
|
|
NM_001943.5(DSG2):c.2079A>C (p.Glu693Asp)
|
rs375595872
|
0.00003
|
|
NM_001943.5(DSG2):c.216+3A>C
|
rs774208829
|
0.00003
|
|
NM_001943.5(DSG2):c.2162A>G (p.His721Arg)
|
rs756912703
|
0.00003
|
|
NM_001943.5(DSG2):c.2234C>T (p.Thr745Met)
|
rs727504783
|
0.00003
|
|
NM_001943.5(DSG2):c.2304C>T (p.Asn768=)
|
rs368514815
|
0.00003
|
|
NM_001943.5(DSG2):c.2340G>T (p.Ala780=)
|
rs375539435
|
0.00003
|
|
NM_001943.5(DSG2):c.2421G>T (p.Leu807=)
|
rs374775982
|
0.00003
|
|
NM_001943.5(DSG2):c.2426C>T (p.Ala809Val)
|
rs1278738577
|
0.00003
|
|
NM_001943.5(DSG2):c.2468A>G (p.Asp823Gly)
|
rs777642924
|
0.00003
|
|
NM_001943.5(DSG2):c.2510C>A (p.Ala837Asp)
|
rs756338201
|
0.00003
|
|
NM_001943.5(DSG2):c.2638A>C (p.Asn880His)
|
rs745617885
|
0.00003
|
|
NM_001943.5(DSG2):c.2880C>G (p.Ser960Arg)
|
rs374807974
|
0.00003
|
|
NM_001943.5(DSG2):c.2960T>C (p.Val987Ala)
|
rs727502991
|
0.00003
|
|
NM_001943.5(DSG2):c.3039C>A (p.Tyr1013Ter)
|
rs539821357
|
0.00003
|
|
NM_001943.5(DSG2):c.3040G>A (p.Val1014Ile)
|
rs200830807
|
0.00003
|
|
NM_001943.5(DSG2):c.3210G>A (p.Thr1070=)
|
rs771104963
|
0.00003
|
|
NM_001943.5(DSG2):c.3228G>A (p.Val1076=)
|
rs373966845
|
0.00003
|
|
NM_001943.5(DSG2):c.55A>G (p.Asn19Asp)
|
rs185266383
|
0.00003
|
|
NM_001943.5(DSG2):c.706A>G (p.Thr236Ala)
|
rs727502985
|
0.00003
|
|
NM_001943.5(DSG2):c.721G>A (p.Ala241Thr)
|
rs371918777
|
0.00003
|
|
NM_001943.5(DSG2):c.806T>C (p.Ile269Thr)
|
rs727502986
|
0.00003
|
|
NM_001943.5(DSG2):c.84C>G (p.Val28=)
|
rs397516711
|
0.00003
|
|
NM_002230.4(JUP):c.*567C>G
|
rs886052914
|
0.00003
|
|
NM_002230.4(JUP):c.*573C>T
|
rs886052913
|
0.00003
|
|
NM_002230.4(JUP):c.*670G>T
|
rs782166986
|
0.00003
|
|
NM_002230.4(JUP):c.1099C>G (p.Arg367Gly)
|
rs76416187
|
0.00003
|
|
NM_002230.4(JUP):c.1218C>T (p.Asn406=)
|
rs782565128
|
0.00003
|
|
NM_002230.4(JUP):c.1222C>T (p.Leu408Phe)
|
rs369755953
|
0.00003
|
|
NM_002230.4(JUP):c.1235C>T (p.Thr412Met)
|
rs782551865
|
0.00003
|
|
NM_002230.4(JUP):c.1290A>G (p.Thr430=)
|
rs897549158
|
0.00003
|
|
NM_002230.4(JUP):c.1379G>A (p.Arg460His)
|
rs397517296
|
0.00003
|
|
NM_002230.4(JUP):c.1430G>A (p.Arg477His)
|
rs781788038
|
0.00003
|
|
NM_002230.4(JUP):c.1439A>G (p.Tyr480Cys)
|
rs782756834
|
0.00003
|
|
NM_002230.4(JUP):c.1497+15C>T
|
rs1208242034
|
0.00003
|
|
NM_002230.4(JUP):c.153C>T (p.Arg51=)
|
rs1002288225
|
0.00003
|
|
NM_002230.4(JUP):c.1653+18G>A
|
rs1057520950
|
0.00003
|
|
NM_002230.4(JUP):c.1692C>T (p.Thr564=)
|
rs781958880
|
0.00003
|
|
NM_002230.4(JUP):c.1729C>T (p.Arg577Cys)
|
rs782354654
|
0.00003
|
|
NM_002230.4(JUP):c.1933G>A (p.Ala645Thr)
|
rs727504778
|
0.00003
|
|
NM_002230.4(JUP):c.1995C>T (p.Ser665=)
|
rs782094877
|
0.00003
|
|
NM_002230.4(JUP):c.1996G>A (p.Val666Met)
|
rs372369061
|
0.00003
|
|
NM_002230.4(JUP):c.2021A>G (p.Lys674Arg)
|
rs1914011596
|
0.00003
|
|
NM_002230.4(JUP):c.2087-14C>T
|
rs781839198
|
0.00003
|
|
NM_002230.4(JUP):c.2189G>A (p.Ser730Asn)
|
rs782261124
|
0.00003
|
|
NM_002230.4(JUP):c.332C>T (p.Thr111Ile)
|
rs782080859
|
0.00003
|
|
NM_002230.4(JUP):c.357G>A (p.Pro119=)
|
rs782579395
|
0.00003
|
|
NM_002230.4(JUP):c.435C>T (p.Pro145=)
|
rs781786854
|
0.00003
|
|
NM_002230.4(JUP):c.467C>T (p.Pro156Leu)
|
rs782052422
|
0.00003
|
|
NM_002230.4(JUP):c.474G>A (p.Val158=)
|
rs572405296
|
0.00003
|
|
NM_002230.4(JUP):c.509C>T (p.Ser170Leu)
|
rs782284038
|
0.00003
|
|
NM_002230.4(JUP):c.66C>T (p.Tyr22=)
|
rs782575179
|
0.00003
|
|
NM_002230.4(JUP):c.707+13G>A
|
rs370998940
|
0.00003
|
|
NM_002230.4(JUP):c.723G>A (p.Ser241=)
|
rs564635690
|
0.00003
|
|
NM_002230.4(JUP):c.789C>T (p.Ala263=)
|
rs781822316
|
0.00003
|
|
NM_003239.5(TGFB3):c.591C>T (p.Ala197=)
|
rs375090568
|
0.00003
|
|
NM_003239.5(TGFB3):c.859C>T (p.Arg287Trp)
|
rs757774610
|
0.00003
|
|
NM_004415.4(DSP):c.*358A>T
|
rs886061752
|
0.00003
|
|
NM_004415.4(DSP):c.1045-8T>C
|
rs201633815
|
0.00003
|
|
NM_004415.4(DSP):c.1103T>C (p.Ile368Thr)
|
rs141163578
|
0.00003
|
|
NM_004415.4(DSP):c.1254C>G (p.Ile418Met)
|
rs752264359
|
0.00003
|
|
NM_004415.4(DSP):c.1267-14A>T
|
rs374439921
|
0.00003
|
|
NM_004415.4(DSP):c.1324T>G (p.Ser442Ala)
|
rs755492444
|
0.00003
|
|
NM_004415.4(DSP):c.1420-15T>C
|
rs569955363
|
0.00003
|
|
NM_004415.4(DSP):c.1487C>T (p.Thr496Met)
|
rs374283517
|
0.00003
|
|
NM_004415.4(DSP):c.1501G>A (p.Val501Ile)
|
rs368778031
|
0.00003
|
|
NM_004415.4(DSP):c.1512T>C (p.Leu504=)
|
rs537526794
|
0.00003
|
|
NM_004415.4(DSP):c.1557C>T (p.Ala519=)
|
rs769629611
|
0.00003
|
|
NM_004415.4(DSP):c.1630A>C (p.Met544Leu)
|
rs201960323
|
0.00003
|
|
NM_004415.4(DSP):c.1695C>T (p.Ile565=)
|
rs752714010
|
0.00003
|
|
NM_004415.4(DSP):c.1743C>T (p.Ala581=)
|
rs139095230
|
0.00003
|
|
NM_004415.4(DSP):c.1840G>A (p.Asp614Asn)
|
rs764951792
|
0.00003
|
|
NM_004415.4(DSP):c.1904-12T>G
|
rs750869804
|
0.00003
|
|
NM_004415.4(DSP):c.1904-17C>G
|
rs370715047
|
0.00003
|
|
NM_004415.4(DSP):c.201C>T (p.Asn67=)
|
rs774432635
|
0.00003
|
|
NM_004415.4(DSP):c.2038G>A (p.Glu680Lys)
|
rs1186943530
|
0.00003
|
|
NM_004415.4(DSP):c.2047G>A (p.Glu683Lys)
|
rs775181391
|
0.00003
|
|
NM_004415.4(DSP):c.2052C>A (p.Gly684=)
|
rs760191477
|
0.00003
|
|
NM_004415.4(DSP):c.21C>T (p.Ser7=)
|
rs750532252
|
0.00003
|
|
NM_004415.4(DSP):c.2310A>C (p.Val770=)
|
rs762909119
|
0.00003
|
|
NM_004415.4(DSP):c.2345A>G (p.Asp782Gly)
|
rs557966264
|
0.00003
|
|
NM_004415.4(DSP):c.2540C>T (p.Pro847Leu)
|
rs727504657
|
0.00003
|
|
NM_004415.4(DSP):c.2546A>G (p.Tyr849Cys)
|
rs778636665
|
0.00003
|
|
NM_004415.4(DSP):c.2566T>C (p.Phe856Leu)
|
rs779253041
|
0.00003
|
|
NM_004415.4(DSP):c.256G>C (p.Glu86Gln)
|
rs764993760
|
0.00003
|
|
NM_004415.4(DSP):c.2720G>A (p.Arg907His)
|
rs774665110
|
0.00003
|
|
NM_004415.4(DSP):c.2722C>T (p.Arg908Cys)
|
rs376932045
|
0.00003
|
|
NM_004415.4(DSP):c.3015A>G (p.Glu1005=)
|
rs397516930
|
0.00003
|
|
NM_004415.4(DSP):c.3153C>A (p.Asn1051Lys)
|
rs563387839
|
0.00003
|
|
NM_004415.4(DSP):c.3231G>A (p.Ala1077=)
|
rs368214030
|
0.00003
|
|
NM_004415.4(DSP):c.3275C>T (p.Ser1092Leu)
|
rs755481878
|
0.00003
|
|
NM_004415.4(DSP):c.344A>G (p.Asn115Ser)
|
rs28763958
|
0.00003
|
|
NM_004415.4(DSP):c.3551G>A (p.Arg1184Gln)
|
rs147909031
|
0.00003
|
|
NM_004415.4(DSP):c.363C>T (p.Leu121=)
|
rs748204541
|
0.00003
|
|
NM_004415.4(DSP):c.3650C>T (p.Thr1217Met)
|
rs535202724
|
0.00003
|
|
NM_004415.4(DSP):c.3651G>A (p.Thr1217=)
|
rs1057522191
|
0.00003
|
|
NM_004415.4(DSP):c.3760G>A (p.Val1254Ile)
|
rs778448699
|
0.00003
|
|
NM_004415.4(DSP):c.4005G>A (p.Gln1335=)
|
rs775720924
|
0.00003
|
|
NM_004415.4(DSP):c.4019G>A (p.Arg1340His)
|
rs765247380
|
0.00003
|
|
NM_004415.4(DSP):c.4041A>G (p.Glu1347=)
|
rs200671552
|
0.00003
|
|
NM_004415.4(DSP):c.4077C>T (p.Ile1359=)
|
rs747249306
|
0.00003
|
|
NM_004415.4(DSP):c.4081A>C (p.Ser1361Arg)
|
rs747326519
|
0.00003
|
|
NM_004415.4(DSP):c.4105G>A (p.Glu1369Lys)
|
rs141805096
|
0.00003
|
|
NM_004415.4(DSP):c.4373G>A (p.Arg1458Gln)
|
rs370063434
|
0.00003
|
|
NM_004415.4(DSP):c.4377A>G (p.Thr1459=)
|
rs771910118
|
0.00003
|
|
NM_004415.4(DSP):c.4387G>A (p.Val1463Ile)
|
rs948230523
|
0.00003
|
|
NM_004415.4(DSP):c.4492A>G (p.Lys1498Glu)
|
rs794728122
|
0.00003
|
|
NM_004415.4(DSP):c.4540C>T (p.Leu1514=)
|
rs754783192
|
0.00003
|
|
NM_004415.4(DSP):c.4573A>G (p.Ile1525Val)
|
rs145796901
|
0.00003
|
|
NM_004415.4(DSP):c.4741A>G (p.Lys1581Glu)
|
rs186842903
|
0.00003
|
|
NM_004415.4(DSP):c.484C>T (p.Arg162Cys)
|
rs760711308
|
0.00003
|
|
NM_004415.4(DSP):c.4855del (p.Leu1619fs)
|
rs1231490307
|
0.00003
|
|
NM_004415.4(DSP):c.485G>T (p.Arg162Leu)
|
rs397516944
|
0.00003
|
|
NM_004415.4(DSP):c.5019A>T (p.Glu1673Asp)
|
rs773113214
|
0.00003
|
|
NM_004415.4(DSP):c.5066T>C (p.Ile1689Thr)
|
rs869025394
|
0.00003
|
|
NM_004415.4(DSP):c.5154G>A (p.Leu1718=)
|
rs376620183
|
0.00003
|
|
NM_004415.4(DSP):c.5223G>A (p.Ala1741=)
|
rs201984474
|
0.00003
|
|
NM_004415.4(DSP):c.5414G>A (p.Cys1805Tyr)
|
rs768161038
|
0.00003
|
|
NM_004415.4(DSP):c.55C>A (p.Arg19Ser)
|
rs777340009
|
0.00003
|
|
NM_004415.4(DSP):c.578G>T (p.Gly193Val)
|
rs750350474
|
0.00003
|
|
NM_004415.4(DSP):c.5827A>G (p.Arg1943Gly)
|
rs140663822
|
0.00003
|
|
NM_004415.4(DSP):c.5865T>C (p.Thr1955=)
|
rs1306745746
|
0.00003
|
|
NM_004415.4(DSP):c.5899G>A (p.Val1967Met)
|
rs397516949
|
0.00003
|
|
NM_004415.4(DSP):c.6062C>G (p.Ala2021Gly)
|
rs760673242
|
0.00003
|
|
NM_004415.4(DSP):c.607G>A (p.Asp203Asn)
|
rs374100807
|
0.00003
|
|
NM_004415.4(DSP):c.6187C>G (p.Arg2063Gly)
|
rs374090050
|
0.00003
|
|
NM_004415.4(DSP):c.6248G>A (p.Arg2083His)
|
rs574637009
|
0.00003
|
|
NM_004415.4(DSP):c.6310del (p.Thr2104fs)
|
rs730880092
|
0.00003
|
|
NM_004415.4(DSP):c.6368G>A (p.Arg2123His)
|
rs142272846
|
0.00003
|
|
NM_004415.4(DSP):c.6416A>G (p.Asn2139Ser)
|
rs765687440
|
0.00003
|
|
NM_004415.4(DSP):c.6496C>A (p.Arg2166=)
|
rs141026028
|
0.00003
|
|
NM_004415.4(DSP):c.665G>A (p.Arg222Gln)
|
rs377749481
|
0.00003
|
|
NM_004415.4(DSP):c.6935T>C (p.Val2312Ala)
|
rs886061748
|
0.00003
|
|
NM_004415.4(DSP):c.7014G>C (p.Gly2338=)
|
rs1054965369
|
0.00003
|
|
NM_004415.4(DSP):c.7039A>G (p.Ile2347Val)
|
rs768837509
|
0.00003
|
|
NM_004415.4(DSP):c.7075A>G (p.Ile2359Val)
|
rs774087560
|
0.00003
|
|
NM_004415.4(DSP):c.7123G>A (p.Gly2375Arg)
|
rs376923069
|
0.00003
|
|
NM_004415.4(DSP):c.7569G>A (p.Lys2523=)
|
rs1230846776
|
0.00003
|
|
NM_004415.4(DSP):c.7588A>T (p.Ile2530Phe)
|
rs397516958
|
0.00003
|
|
NM_004415.4(DSP):c.7653C>T (p.Ser2551=)
|
rs746983874
|
0.00003
|
|
NM_004415.4(DSP):c.7826T>C (p.Phe2609Ser)
|
rs397516959
|
0.00003
|
|
NM_004415.4(DSP):c.7915C>T (p.Arg2639Trp)
|
rs771553674
|
0.00003
|
|
NM_004415.4(DSP):c.837G>A (p.Thr279=)
|
rs368051840
|
0.00003
|
|
NM_004415.4(DSP):c.8401C>G (p.Arg2801Gly)
|
rs760215987
|
0.00003
|
|
NM_004415.4(DSP):c.8433G>A (p.Lys2811=)
|
rs753011095
|
0.00003
|
|
NM_004415.4(DSP):c.860A>G (p.Asn287Ser)
|
rs138872423
|
0.00003
|
|
NM_004415.4(DSP):c.997A>G (p.Ser333Gly)
|
rs773685575
|
0.00003
|
|
NM_006073.4(TRDN):c.1019A>G (p.Glu340Gly)
|
rs745751151
|
0.00003
|
|
NM_006073.4(TRDN):c.1186+13A>T
|
rs374832854
|
0.00003
|
|
NM_006073.4(TRDN):c.126G>A (p.Thr42=)
|
rs774324909
|
0.00003
|
|
NM_006073.4(TRDN):c.1273+16T>C
|
rs1055067085
|
0.00003
|
|
NM_006073.4(TRDN):c.1321+15A>G
|
rs373855431
|
0.00003
|
|
NM_006073.4(TRDN):c.1369+9A>G
|
rs373926690
|
0.00003
|
|
NM_006073.4(TRDN):c.1420+1G>T
|
rs1375657667
|
0.00003
|
|
NM_006073.4(TRDN):c.1420+7G>A
|
rs1468907376
|
0.00003
|
|
NM_006073.4(TRDN):c.1421-20T>C
|
rs1018226745
|
0.00003
|
|
NM_006073.4(TRDN):c.1601T>G (p.Ile534Arg)
|
rs926868398
|
0.00003
|
|
NM_006073.4(TRDN):c.1651A>G (p.Thr551Ala)
|
rs1304157111
|
0.00003
|
|
NM_006073.4(TRDN):c.1672+8G>T
|
rs372811049
|
0.00003
|
|
NM_006073.4(TRDN):c.1708A>G (p.Ile570Val)
|
rs915231524
|
0.00003
|
|
NM_006073.4(TRDN):c.1733C>A (p.Pro578Gln)
|
rs761240477
|
0.00003
|
|
NM_006073.4(TRDN):c.1754G>A (p.Arg585Gln)
|
rs199986608
|
0.00003
|
|
NM_006073.4(TRDN):c.1783G>A (p.Asp595Asn)
|
rs771170294
|
0.00003
|
|
NM_006073.4(TRDN):c.196G>T (p.Val66Phe)
|
rs372169818
|
0.00003
|
|
NM_006073.4(TRDN):c.2050+16G>A
|
rs543899749
|
0.00003
|
|
NM_006073.4(TRDN):c.2073T>C (p.Cys691=)
|
rs776628762
|
0.00003
|
|
NM_006073.4(TRDN):c.2143A>G (p.Ser715Gly)
|
rs768748530
|
0.00003
|
|
NM_006073.4(TRDN):c.22+29A>G
|
rs774068079
|
0.00003
|
|
NM_006073.4(TRDN):c.22+8T>C
|
rs754212646
|
0.00003
|
|
NM_006073.4(TRDN):c.25A>G (p.Asn9Asp)
|
rs768303943
|
0.00003
|
|
NM_006073.4(TRDN):c.32C>T (p.Ser11Phe)
|
rs760549842
|
0.00003
|
|
NM_006073.4(TRDN):c.46G>C (p.Val16Leu)
|
rs974343553
|
0.00003
|
|
NM_006073.4(TRDN):c.610+20T>G
|
rs1236681855
|
0.00003
|
|
NM_006073.4(TRDN):c.611-14T>A
|
rs181140338
|
0.00003
|
|
NM_006073.4(TRDN):c.931+19C>T
|
rs1319851680
|
0.00003
|
|
NM_007078.3(LDB3):c.1672A>G (p.Ile558Val)
|
rs372331627
|
0.00003
|
|
NM_013266.4(CTNNA3):c.1007G>A (p.Arg336His)
|
rs372482202
|
0.00003
|
|
NM_013266.4(CTNNA3):c.1064G>A (p.Arg355Lys)
|
rs375610128
|
0.00003
|
|
NM_013266.4(CTNNA3):c.1281+4A>G
|
rs1364739747
|
0.00003
|
|
NM_013266.4(CTNNA3):c.1282-16T>A
|
rs1380666219
|
0.00003
|
|
NM_013266.4(CTNNA3):c.1610C>T (p.Ala537Val)
|
rs769674937
|
0.00003
|
|
NM_013266.4(CTNNA3):c.1627C>T (p.Arg543Trp)
|
rs372758887
|
0.00003
|
|
NM_013266.4(CTNNA3):c.1630G>A (p.Ala544Thr)
|
rs376250417
|
0.00003
|
|
NM_013266.4(CTNNA3):c.2098G>A (p.Asp700Asn)
|
rs570471424
|
0.00003
|
|
NM_013266.4(CTNNA3):c.2278T>C (p.Ser760Pro)
|
rs760532002
|
0.00003
|
|
NM_013266.4(CTNNA3):c.232C>T (p.Gln78Ter)
|
rs201306690
|
0.00003
|
|
NM_013266.4(CTNNA3):c.2368C>G (p.Gln790Glu)
|
rs758882774
|
0.00003
|
|
NM_013266.4(CTNNA3):c.2614A>C (p.Arg872=)
|
rs746704810
|
0.00003
|
|
NM_013266.4(CTNNA3):c.2628A>G (p.Ala876=)
|
rs377740786
|
0.00003
|
|
NM_013266.4(CTNNA3):c.305A>T (p.Lys102Ile)
|
rs777996573
|
0.00003
|
|
NM_013266.4(CTNNA3):c.452T>G (p.Val151Gly)
|
rs756167695
|
0.00003
|
|
NM_013266.4(CTNNA3):c.571C>T (p.Arg191Cys)
|
rs755934798
|
0.00003
|
|
NM_013266.4(CTNNA3):c.674G>T (p.Cys225Phe)
|
rs747835139
|
0.00003
|
|
NM_013266.4(CTNNA3):c.907C>T (p.Arg303Cys)
|
rs747726450
|
0.00003
|
|
NM_013266.4(CTNNA3):c.935C>T (p.Ala312Val)
|
rs758173783
|
0.00003
|
|
NM_013266.4(CTNNA3):c.999C>A (p.Asn333Lys)
|
rs146754105
|
0.00003
|
|
NM_017636.4(TRPM4):c.3512G>A (p.Arg1171His)
|
rs762615860
|
0.00003
|
|
NM_024334.3(TMEM43):c.*849T>C
|
rs886058034
|
0.00003
|
|
NM_024334.3(TMEM43):c.1000+12G>A
|
rs749592639
|
0.00003
|
|
NM_024334.3(TMEM43):c.1112A>G (p.Tyr371Cys)
|
rs752269639
|
0.00003
|
|
NM_024334.3(TMEM43):c.1114C>T (p.Arg372Ter)
|
rs773224617
|
0.00003
|
|
NM_024334.3(TMEM43):c.180G>A (p.Thr60=)
|
rs765703685
|
0.00003
|
|
NM_024334.3(TMEM43):c.189A>G (p.Ser63=)
|
rs934304715
|
0.00003
|
|
NM_024334.3(TMEM43):c.403G>A (p.Glu135Lys)
|
rs140347235
|
0.00003
|
|
NM_024334.3(TMEM43):c.406G>A (p.Asp136Asn)
|
rs559271953
|
0.00003
|
|
NM_024334.3(TMEM43):c.512+12G>A
|
rs766205020
|
0.00003
|
|
NM_024334.3(TMEM43):c.584-13C>G
|
rs748146417
|
0.00003
|
|
NM_024334.3(TMEM43):c.591C>T (p.Ile197=)
|
rs145024252
|
0.00003
|
|
NM_024334.3(TMEM43):c.644A>C (p.His215Pro)
|
rs730880225
|
0.00003
|
|
NM_024334.3(TMEM43):c.661C>T (p.Arg221Cys)
|
rs182464375
|
0.00003
|
|
NM_024334.3(TMEM43):c.684C>T (p.Ser228=)
|
rs371019231
|
0.00003
|
|
NM_024334.3(TMEM43):c.692C>T (p.Pro231Leu)
|
rs533275736
|
0.00003
|
|
NM_024334.3(TMEM43):c.748G>A (p.Gly250Ser)
|
rs371797765
|
0.00003
|
|
NM_024334.3(TMEM43):c.796C>T (p.Arg266Trp)
|
rs139842014
|
0.00003
|
|
NM_024334.3(TMEM43):c.83G>A (p.Arg28Gln)
|
rs757651177
|
0.00003
|
|
NM_024334.3(TMEM43):c.96C>T (p.Thr32=)
|
rs1021721320
|
0.00003
|
|
NM_024334.3(TMEM43):c.980C>G (p.Thr327Arg)
|
rs368111230
|
0.00003
|
|
NM_024422.6(DSC2):c.*166C>G
|
rs886053692
|
0.00003
|
|
NM_024422.6(DSC2):c.*864G>A
|
rs746780312
|
0.00003
|
|
NM_024422.6(DSC2):c.-366A>G
|
rs886053700
|
0.00003
|
|
NM_024422.6(DSC2):c.1018A>G (p.Thr340Ala)
|
rs368299411
|
0.00003
|
|
NM_024422.6(DSC2):c.1019C>A (p.Thr340Asn)
|
rs757065157
|
0.00003
|
|
NM_024422.6(DSC2):c.1048G>T (p.Asp350Tyr)
|
rs766413086
|
0.00003
|
|
NM_024422.6(DSC2):c.115G>A (p.Val39Ile)
|
rs1447651355
|
0.00003
|
|
NM_024422.6(DSC2):c.1264-4G>A
|
rs377439942
|
0.00003
|
|
NM_024422.6(DSC2):c.1537G>T (p.Asp513Tyr)
|
rs373324195
|
0.00003
|
|
NM_024422.6(DSC2):c.1663+4A>G
|
rs369849387
|
0.00003
|
|
NM_024422.6(DSC2):c.1814G>A (p.Gly605Asp)
|
rs1342808624
|
0.00003
|
|
NM_024422.6(DSC2):c.1881A>G (p.Ala627=)
|
rs752023626
|
0.00003
|
|
NM_024422.6(DSC2):c.2036A>G (p.His679Arg)
|
rs145710244
|
0.00003
|
|
NM_024422.6(DSC2):c.2059G>A (p.Gly687Ser)
|
rs199616533
|
0.00003
|
|
NM_024422.6(DSC2):c.2126G>A (p.Cys709Tyr)
|
rs145831682
|
0.00003
|
|
NM_024422.6(DSC2):c.2157T>C (p.Ser719=)
|
rs985629599
|
0.00003
|
|
NM_024422.6(DSC2):c.2250+12G>T
|
rs201039801
|
0.00003
|
|
NM_024422.6(DSC2):c.2509-9C>T
|
rs773056962
|
0.00003
|
|
NM_024422.6(DSC2):c.2595G>A (p.Val865=)
|
rs765879750
|
0.00003
|
|
NM_024422.6(DSC2):c.2624G>A (p.Arg875Gln)
|
rs535014010
|
0.00003
|
|
NM_024422.6(DSC2):c.321G>T (p.Lys107Asn)
|
rs140856220
|
0.00003
|
|
NM_024422.6(DSC2):c.395G>A (p.Arg132His)
|
rs375410133
|
0.00003
|
|
NM_024422.6(DSC2):c.595C>T (p.Arg199Cys)
|
rs769787593
|
0.00003
|
|
NM_024422.6(DSC2):c.601G>A (p.Val201Ile)
|
rs202058544
|
0.00003
|
|
NM_024422.6(DSC2):c.619G>C (p.Glu207Gln)
|
rs200634448
|
0.00003
|
|
NM_024422.6(DSC2):c.630+19G>A
|
rs750910749
|
0.00003
|
|
NM_024422.6(DSC2):c.663T>A (p.Tyr221Ter)
|
rs145476705
|
0.00003
|
|
NM_024422.6(DSC2):c.708A>G (p.Glu236=)
|
rs377279601
|
0.00003
|
|
NM_024422.6(DSC2):c.776-13T>G
|
rs370595433
|
0.00003
|
|
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala)
|
rs201015785
|
0.00003
|
|
NM_024422.6(DSC2):c.818C>T (p.Pro273Leu)
|
rs864622708
|
0.00003
|
|
NM_024422.6(DSC2):c.841A>G (p.Lys281Glu)
|
rs373697870
|
0.00003
|
|
NM_024422.6(DSC2):c.870A>G (p.Pro290=)
|
rs142653119
|
0.00003
|
|
NM_024422.6(DSC2):c.943-9T>C
|
rs750684563
|
0.00003
|
|
NM_133379.5(TTN):c.16321C>T (p.Arg5441Ter)
|
rs201273719
|
0.00003
|
|
NM_000023.4(SGCA):c.58G>A (p.Asp20Asn)
|
rs759284746
|
0.00002
|
|
NM_001005242.3(PKP2):c.*1220A>G
|
rs886049306
|
0.00002
|
|
NM_001005242.3(PKP2):c.*607A>C
|
rs187797390
|
0.00002
|
|
NM_001005242.3(PKP2):c.1045A>G (p.Met349Val)
|
rs199957846
|
0.00002
|
|
NM_001005242.3(PKP2):c.1127T>C (p.Phe376Ser)
|
rs56869013
|
0.00002
|
|
NM_001005242.3(PKP2):c.1171-13G>A
|
rs200137461
|
0.00002
|
|
NM_001005242.3(PKP2):c.1183C>T (p.Arg395Cys)
|
rs761238380
|
0.00002
|
|
NM_001005242.3(PKP2):c.1206G>A (p.Gln402=)
|
rs773905605
|
0.00002
|
|
NM_001005242.3(PKP2):c.1308A>G (p.Leu436=)
|
rs1439169005
|
0.00002
|
|
NM_001005242.3(PKP2):c.1322G>A (p.Arg441Gln)
|
rs753912985
|
0.00002
|
|
NM_001005242.3(PKP2):c.1379-1972G>A
|
rs779392697
|
0.00002
|
|
NM_001005242.3(PKP2):c.1379-2012C>T
|
rs760461056
|
0.00002
|
|
NM_001005242.3(PKP2):c.1379-2071G>A
|
rs776244945
|
0.00002
|
|
NM_001005242.3(PKP2):c.1379-2103A>G
|
rs764608036
|
0.00002
|
|
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter)
|
rs193922672
|
0.00002
|
|
NM_001005242.3(PKP2):c.1483C>G (p.Pro495Ala)
|
rs543325231
|
0.00002
|
|
NM_001005242.3(PKP2):c.1510G>T (p.Gly504Cys)
|
rs374641292
|
0.00002
|
|
NM_001005242.3(PKP2):c.1556+7C>T
|
rs752585335
|
0.00002
|
|
NM_001005242.3(PKP2):c.1557-14G>T
|
rs748072057
|
0.00002
|
|
NM_001005242.3(PKP2):c.155A>G (p.Lys52Arg)
|
rs549598534
|
0.00002
|
|
NM_001005242.3(PKP2):c.1610G>A (p.Gly537Glu)
|
rs866789949
|
0.00002
|
|
NM_001005242.3(PKP2):c.1674+15A>C
|
rs749247141
|
0.00002
|
|
NM_001005242.3(PKP2):c.1820G>A (p.Arg607Gln)
|
rs763648594
|
0.00002
|
|
NM_001005242.3(PKP2):c.1840-7T>C
|
rs1362643840
|
0.00002
|
|
NM_001005242.3(PKP2):c.1857G>A (p.Pro619=)
|
rs760434776
|
0.00002
|
|
NM_001005242.3(PKP2):c.1878C>T (p.Asn626=)
|
rs769943903
|
0.00002
|
|
NM_001005242.3(PKP2):c.1887C>T (p.Gly629=)
|
rs368325383
|
0.00002
|
|
NM_001005242.3(PKP2):c.193G>T (p.Ala65Ser)
|
rs143323961
|
0.00002
|
|
NM_001005242.3(PKP2):c.1943A>G (p.Lys648Arg)
|
rs776915959
|
0.00002
|
|
NM_001005242.3(PKP2):c.1952G>A (p.Arg651His)
|
rs758813231
|
0.00002
|
|
NM_001005242.3(PKP2):c.2068A>G (p.Thr690Ala)
|
rs867374780
|
0.00002
|
|
NM_001005242.3(PKP2):c.2072G>A (p.Arg691Gln)
|
rs547215531
|
0.00002
|
|
NM_001005242.3(PKP2):c.2140C>T (p.Arg714Trp)
|
rs537046857
|
0.00002
|
|
NM_001005242.3(PKP2):c.2167+8G>A
|
rs371564682
|
0.00002
|
|
NM_001005242.3(PKP2):c.2234T>C (p.Ile745Thr)
|
rs543233804
|
0.00002
|
|
NM_001005242.3(PKP2):c.2316C>T (p.Thr772=)
|
rs369837002
|
0.00002
|
|
NM_001005242.3(PKP2):c.2358-19A>G
|
rs767272150
|
0.00002
|
|
NM_001005242.3(PKP2):c.2404T>G (p.Ser802Ala)
|
rs1183143350
|
0.00002
|
|
NM_001005242.3(PKP2):c.2420C>T (p.Thr807Met)
|
rs146118033
|
0.00002
|
|
NM_001005242.3(PKP2):c.2421G>A (p.Thr807=)
|
rs199900632
|
0.00002
|
|
NM_001005242.3(PKP2):c.2454T>G (p.Phe818Leu)
|
rs1408272849
|
0.00002
|
|
NM_001005242.3(PKP2):c.2483C>T (p.Thr828Ile)
|
rs370599966
|
0.00002
|
|
NM_001005242.3(PKP2):c.288T>G (p.Asp96Glu)
|
rs762825735
|
0.00002
|
|
NM_001005242.3(PKP2):c.361G>A (p.Gly121Ser)
|
rs1295581142
|
0.00002
|
|
NM_001005242.3(PKP2):c.382G>A (p.Ala128Thr)
|
rs1193697338
|
0.00002
|
|
NM_001005242.3(PKP2):c.387G>A (p.Gln129=)
|
rs768974835
|
0.00002
|
|
NM_001005242.3(PKP2):c.418T>A (p.Ser140Thr)
|
rs727503373
|
0.00002
|
|
NM_001005242.3(PKP2):c.558C>T (p.Ala186=)
|
rs184522105
|
0.00002
|
|
NM_001005242.3(PKP2):c.582T>C (p.Tyr194=)
|
rs532048791
|
0.00002
|
|
NM_001005242.3(PKP2):c.587G>A (p.Arg196His)
|
rs146566525
|
0.00002
|
|
NM_001005242.3(PKP2):c.600G>A (p.Val200=)
|
rs781305034
|
0.00002
|
|
NM_001005242.3(PKP2):c.602G>A (p.Gly201Glu)
|
rs757316313
|
0.00002
|
|
NM_001005242.3(PKP2):c.663C>A (p.Tyr221Ter)
|
rs767987619
|
0.00002
|
|
NM_001005242.3(PKP2):c.687C>T (p.Thr229=)
|
rs1209406571
|
0.00002
|
|
NM_001005242.3(PKP2):c.68G>A (p.Gly23Glu)
|
rs746530389
|
0.00002
|
|
NM_001005242.3(PKP2):c.804C>T (p.Val268=)
|
rs781271804
|
0.00002
|
|
NM_001005242.3(PKP2):c.818C>T (p.Pro273Leu)
|
rs878943755
|
0.00002
|
|
NM_001005242.3(PKP2):c.976G>A (p.Ala326Thr)
|
rs148480056
|
0.00002
|
|
NM_001005242.3(PKP2):c.978A>G (p.Ala326=)
|
rs775137004
|
0.00002
|
|
NM_001035.3(RYR2):c.*472A>G
|
rs1006941124
|
0.00002
|
|
NM_001035.3(RYR2):c.*869G>A
|
rs886046303
|
0.00002
|
|
NM_001035.3(RYR2):c.10059C>A (p.Leu3353=)
|
rs370015676
|
0.00002
|
|
NM_001035.3(RYR2):c.1022G>C (p.Gly341Ala)
|
rs565413020
|
0.00002
|
|
NM_001035.3(RYR2):c.10258G>A (p.Val3420Ile)
|
rs397516497
|
0.00002
|
|
NM_001035.3(RYR2):c.10260T>C (p.Val3420=)
|
rs778112871
|
0.00002
|
|
NM_001035.3(RYR2):c.10360C>T (p.Arg3454Cys)
|
rs773252606
|
0.00002
|
|
NM_001035.3(RYR2):c.10373G>A (p.Arg3458Gln)
|
rs762944627
|
0.00002
|
|
NM_001035.3(RYR2):c.10444G>A (p.Ala3482Thr)
|
rs757656504
|
0.00002
|
|
NM_001035.3(RYR2):c.10517G>A (p.Arg3506Gln)
|
rs748805290
|
0.00002
|
|
NM_001035.3(RYR2):c.1066T>C (p.Tyr356His)
|
rs794728718
|
0.00002
|
|
NM_001035.3(RYR2):c.10708C>T (p.Arg3570Trp)
|
rs765835441
|
0.00002
|
|
NM_001035.3(RYR2):c.11018G>A (p.Arg3673Gln)
|
rs778111237
|
0.00002
|
|
NM_001035.3(RYR2):c.11039+7T>C
|
rs569571855
|
0.00002
|
|
NM_001035.3(RYR2):c.11090A>G (p.Lys3697Arg)
|
rs754610757
|
0.00002
|
|
NM_001035.3(RYR2):c.11208G>A (p.Ala3736=)
|
rs750384592
|
0.00002
|
|
NM_001035.3(RYR2):c.1166G>A (p.Arg389His)
|
rs200685968
|
0.00002
|
|
NM_001035.3(RYR2):c.1171-11C>T
|
rs200226512
|
0.00002
|
|
NM_001035.3(RYR2):c.11963-4C>T
|
rs747161273
|
0.00002
|
|
NM_001035.3(RYR2):c.11982G>A (p.Thr3994=)
|
rs368634803
|
0.00002
|
|
NM_001035.3(RYR2):c.12039T>C (p.Ile4013=)
|
rs775228348
|
0.00002
|
|
NM_001035.3(RYR2):c.12091A>G (p.Thr4031Ala)
|
rs755148895
|
0.00002
|
|
NM_001035.3(RYR2):c.12111C>T (p.Pro4037=)
|
rs770463326
|
0.00002
|
|
NM_001035.3(RYR2):c.12160A>G (p.Ser4054Gly)
|
rs376781046
|
0.00002
|
|
NM_001035.3(RYR2):c.1217C>T (p.Ser406Leu)
|
rs759830423
|
0.00002
|
|
NM_001035.3(RYR2):c.12215C>T (p.Thr4072Met)
|
rs928224285
|
0.00002
|
|
NM_001035.3(RYR2):c.12282C>T (p.Ile4094=)
|
rs764339831
|
0.00002
|
|
NM_001035.3(RYR2):c.12331A>C (p.Asn4111His)
|
rs192890834
|
0.00002
|
|
NM_001035.3(RYR2):c.12552G>A (p.Glu4184=)
|
rs1300867476
|
0.00002
|
|
NM_001035.3(RYR2):c.12579C>T (p.Cys4193=)
|
rs369532267
|
0.00002
|
|
NM_001035.3(RYR2):c.12648G>A (p.Ala4216=)
|
rs781557399
|
0.00002
|
|
NM_001035.3(RYR2):c.12674G>A (p.Arg4225Lys)
|
rs1223110750
|
0.00002
|
|
NM_001035.3(RYR2):c.12865A>G (p.Ser4289Gly)
|
rs1386632671
|
0.00002
|
|
NM_001035.3(RYR2):c.12957C>T (p.Val4319=)
|
rs727504438
|
0.00002
|
|
NM_001035.3(RYR2):c.13195A>G (p.Asn4399Asp)
|
rs764884250
|
0.00002
|
|
NM_001035.3(RYR2):c.1319C>T (p.Ala440Val)
|
rs758904216
|
0.00002
|
|
NM_001035.3(RYR2):c.13411G>A (p.Gly4471Arg)
|
rs794728797
|
0.00002
|
|
NM_001035.3(RYR2):c.13477-18A>G
|
rs1381666659
|
0.00002
|
|
NM_001035.3(RYR2):c.1354G>A (p.Val452Ile)
|
rs375218751
|
0.00002
|
|
NM_001035.3(RYR2):c.13563+4C>T
|
rs926460699
|
0.00002
|
|
NM_001035.3(RYR2):c.13635A>T (p.Thr4545=)
|
rs779762647
|
0.00002
|
|
NM_001035.3(RYR2):c.13712C>T (p.Thr4571Met)
|
rs200803276
|
0.00002
|
|
NM_001035.3(RYR2):c.14019C>T (p.Asp4673=)
|
rs1303103945
|
0.00002
|
|
NM_001035.3(RYR2):c.1404G>A (p.Glu468=)
|
rs768538183
|
0.00002
|
|
NM_001035.3(RYR2):c.14090+19C>T
|
rs534019715
|
0.00002
|
|
NM_001035.3(RYR2):c.14151+14A>G
|
rs1451364457
|
0.00002
|
|
NM_001035.3(RYR2):c.143T>C (p.Phe48Ser)
|
rs774559907
|
0.00002
|
|
NM_001035.3(RYR2):c.14406A>G (p.Pro4802=)
|
rs767234031
|
0.00002
|
|
NM_001035.3(RYR2):c.14434-14T>A
|
rs1490862924
|
0.00002
|
|
NM_001035.3(RYR2):c.1464C>T (p.Leu488=)
|
rs755432808
|
0.00002
|
|
NM_001035.3(RYR2):c.14721C>T (p.Thr4907=)
|
rs766261818
|
0.00002
|
|
NM_001035.3(RYR2):c.1476+3C>T
|
rs1387762631
|
0.00002
|
|
NM_001035.3(RYR2):c.14808+13T>A
|
rs747353568
|
0.00002
|
|
NM_001035.3(RYR2):c.14808+15A>G
|
rs769022695
|
0.00002
|
|
NM_001035.3(RYR2):c.14871C>T (p.Cys4957=)
|
rs752034170
|
0.00002
|
|
NM_001035.3(RYR2):c.14896C>T (p.Leu4966=)
|
rs368031082
|
0.00002
|
|
NM_001035.3(RYR2):c.1612+8G>A
|
rs375122829
|
0.00002
|
|
NM_001035.3(RYR2):c.1613C>T (p.Ala538Val)
|
rs1461019181
|
0.00002
|
|
NM_001035.3(RYR2):c.1614G>A (p.Ala538=)
|
rs566885717
|
0.00002
|
|
NM_001035.3(RYR2):c.1675A>G (p.Ile559Val)
|
rs773609522
|
0.00002
|
|
NM_001035.3(RYR2):c.1707A>G (p.Ser569=)
|
rs757215216
|
0.00002
|
|
NM_001035.3(RYR2):c.1709-4T>C
|
rs1482457874
|
0.00002
|
|
NM_001035.3(RYR2):c.1828-10C>A
|
rs755233180
|
0.00002
|
|
NM_001035.3(RYR2):c.1940G>A (p.Arg647His)
|
rs766330093
|
0.00002
|
|
NM_001035.3(RYR2):c.2029T>A (p.Leu677Met)
|
rs750815004
|
0.00002
|
|
NM_001035.3(RYR2):c.2130C>T (p.Gly710=)
|
rs536694711
|
0.00002
|
|
NM_001035.3(RYR2):c.2251A>G (p.Thr751Ala)
|
rs878854154
|
0.00002
|
|
NM_001035.3(RYR2):c.232C>T (p.Leu78=)
|
rs1454549719
|
0.00002
|
|
NM_001035.3(RYR2):c.2374G>A (p.Val792Ile)
|
rs764485892
|
0.00002
|
|
NM_001035.3(RYR2):c.2397-12C>T
|
rs754549931
|
0.00002
|
|
NM_001035.3(RYR2):c.2459C>G (p.Ala820Gly)
|
rs748492817
|
0.00002
|
|
NM_001035.3(RYR2):c.2506C>A (p.His836Asn)
|
rs760544949
|
0.00002
|
|
NM_001035.3(RYR2):c.2615T>C (p.Ile872Thr)
|
rs749607906
|
0.00002
|
|
NM_001035.3(RYR2):c.273+9C>T
|
rs770574179
|
0.00002
|
|
NM_001035.3(RYR2):c.3093C>T (p.Arg1031=)
|
rs775738392
|
0.00002
|
|
NM_001035.3(RYR2):c.3163C>T (p.Arg1055Cys)
|
rs754181384
|
0.00002
|
|
NM_001035.3(RYR2):c.3168G>A (p.Thr1056=)
|
rs1183058696
|
0.00002
|
|
NM_001035.3(RYR2):c.3180C>T (p.Tyr1060=)
|
rs398123540
|
0.00002
|
|
NM_001035.3(RYR2):c.322G>A (p.Gly108Ser)
|
rs1431073529
|
0.00002
|
|
NM_001035.3(RYR2):c.3237C>T (p.Ser1079=)
|
rs770116364
|
0.00002
|
|
NM_001035.3(RYR2):c.3461G>A (p.Arg1154His)
|
rs530867686
|
0.00002
|
|
NM_001035.3(RYR2):c.3484G>A (p.Val1162Met)
|
rs377030538
|
0.00002
|
|
NM_001035.3(RYR2):c.364C>T (p.Arg122Cys)
|
rs397516527
|
0.00002
|
|
NM_001035.3(RYR2):c.36G>C (p.Gln12His)
|
rs746811389
|
0.00002
|
|
NM_001035.3(RYR2):c.372C>G (p.Ser124=)
|
rs1478989523
|
0.00002
|
|
NM_001035.3(RYR2):c.384+11_384+12del
|
rs773309544
|
0.00002
|
|
NM_001035.3(RYR2):c.3877C>G (p.Gln1293Glu)
|
rs962100875
|
0.00002
|
|
NM_001035.3(RYR2):c.3933G>A (p.Ala1311=)
|
rs573948177
|
0.00002
|
|
NM_001035.3(RYR2):c.3978C>G (p.Gly1326=)
|
rs745839967
|
0.00002
|
|
NM_001035.3(RYR2):c.40C>T (p.Leu14=)
|
rs878854156
|
0.00002
|
|
NM_001035.3(RYR2):c.4148G>A (p.Arg1383His)
|
rs752124839
|
0.00002
|
|
NM_001035.3(RYR2):c.4160+16G>A
|
rs587781142
|
0.00002
|
|
NM_001035.3(RYR2):c.4161-5T>C
|
rs1416816823
|
0.00002
|
|
NM_001035.3(RYR2):c.4329G>A (p.Val1443=)
|
rs397516531
|
0.00002
|
|
NM_001035.3(RYR2):c.4489G>A (p.Gly1497Arg)
|
rs748678280
|
0.00002
|
|
NM_001035.3(RYR2):c.453G>A (p.Glu151=)
|
rs541334277
|
0.00002
|
|
NM_001035.3(RYR2):c.458C>T (p.Thr153Ile)
|
rs766802574
|
0.00002
|
|
NM_001035.3(RYR2):c.4596+6C>T
|
rs766080208
|
0.00002
|
|
NM_001035.3(RYR2):c.4603C>T (p.Pro1535Ser)
|
rs1376021262
|
0.00002
|
|
NM_001035.3(RYR2):c.464-17T>C
|
rs1424840637
|
0.00002
|
|
NM_001035.3(RYR2):c.4684-15C>T
|
rs201780507
|
0.00002
|
|
NM_001035.3(RYR2):c.469G>T (p.Ala157Ser)
|
rs753443369
|
0.00002
|
|
NM_001035.3(RYR2):c.4733C>G (p.Pro1578Arg)
|
rs765351308
|
0.00002
|
|
NM_001035.3(RYR2):c.4852T>C (p.Leu1618=)
|
rs780985525
|
0.00002
|
|
NM_001035.3(RYR2):c.4899T>C (p.Pro1633=)
|
rs1060503853
|
0.00002
|
|
NM_001035.3(RYR2):c.4917T>C (p.Val1639=)
|
rs1060503850
|
0.00002
|
|
NM_001035.3(RYR2):c.5006A>G (p.Asn1669Ser)
|
rs727503400
|
0.00002
|
|
NM_001035.3(RYR2):c.5096G>A (p.Arg1699His)
|
rs779464111
|
0.00002
|
|
NM_001035.3(RYR2):c.5181C>A (p.Val1727=)
|
rs776534086
|
0.00002
|
|
NM_001035.3(RYR2):c.5199G>A (p.Thr1733=)
|
rs758505260
|
0.00002
|
|
NM_001035.3(RYR2):c.5254G>A (p.Gly1752Ser)
|
rs771662129
|
0.00002
|
|
NM_001035.3(RYR2):c.5428G>C (p.Val1810Leu)
|
rs754364233
|
0.00002
|
|
NM_001035.3(RYR2):c.5509G>A (p.Glu1837Lys)
|
rs749184443
|
0.00002
|
|
NM_001035.3(RYR2):c.5517G>A (p.Leu1839=)
|
rs369835453
|
0.00002
|
|
NM_001035.3(RYR2):c.556G>A (p.Val186Met)
|
rs201211033
|
0.00002
|
|
NM_001035.3(RYR2):c.5574G>A (p.Glu1858=)
|
rs752393757
|
0.00002
|
|
NM_001035.3(RYR2):c.5671G>A (p.Glu1891Lys)
|
rs1224597817
|
0.00002
|
|
NM_001035.3(RYR2):c.5715+8G>A
|
rs763395468
|
0.00002
|
|
NM_001035.3(RYR2):c.5801C>T (p.Ala1934Val)
|
rs368009389
|
0.00002
|
|
NM_001035.3(RYR2):c.5825T>G (p.Phe1942Cys)
|
rs397516546
|
0.00002
|
|
NM_001035.3(RYR2):c.5917A>G (p.Ile1973Val)
|
rs780681855
|
0.00002
|
|
NM_001035.3(RYR2):c.6006T>C (p.Asp2002=)
|
rs1234291975
|
0.00002
|
|
NM_001035.3(RYR2):c.6013A>G (p.Thr2005Ala)
|
rs373235823
|
0.00002
|
|
NM_001035.3(RYR2):c.6083G>A (p.Arg2028His)
|
rs1313042151
|
0.00002
|
|
NM_001035.3(RYR2):c.6234C>T (p.Pro2078=)
|
rs748063607
|
0.00002
|
|
NM_001035.3(RYR2):c.6254T>C (p.Phe2085Ser)
|
rs762814340
|
0.00002
|
|
NM_001035.3(RYR2):c.6284T>C (p.Ile2095Thr)
|
rs142498105
|
0.00002
|
|
NM_001035.3(RYR2):c.6495G>A (p.Leu2165=)
|
rs1328477417
|
0.00002
|
|
NM_001035.3(RYR2):c.6537T>G (p.Leu2179=)
|
rs1450139846
|
0.00002
|
|
NM_001035.3(RYR2):c.676+18A>G
|
rs1173261409
|
0.00002
|
|
NM_001035.3(RYR2):c.6793-12T>C
|
rs180775271
|
0.00002
|
|
NM_001035.3(RYR2):c.6800G>A (p.Arg2267His)
|
rs759012078
|
0.00002
|
|
NM_001035.3(RYR2):c.7060G>T (p.Ala2354Ser)
|
rs773070579
|
0.00002
|
|
NM_001035.3(RYR2):c.7063G>A (p.Glu2355Lys)
|
rs754990305
|
0.00002
|
|
NM_001035.3(RYR2):c.7115+20C>G
|
rs373092652
|
0.00002
|
|
NM_001035.3(RYR2):c.7284C>T (p.Pro2428=)
|
rs563608396
|
0.00002
|
|
NM_001035.3(RYR2):c.7315G>A (p.Ala2439Thr)
|
rs367818536
|
0.00002
|
|
NM_001035.3(RYR2):c.7329A>G (p.Pro2443=)
|
rs375553387
|
0.00002
|
|
NM_001035.3(RYR2):c.7375G>A (p.Gly2459Arg)
|
rs1481363942
|
0.00002
|
|
NM_001035.3(RYR2):c.7458T>G (p.His2486Gln)
|
rs377763795
|
0.00002
|
|
NM_001035.3(RYR2):c.782A>G (p.His261Arg)
|
rs577416427
|
0.00002
|
|
NM_001035.3(RYR2):c.7965+16G>A
|
rs1242583907
|
0.00002
|
|
NM_001035.3(RYR2):c.8013A>G (p.Ala2671=)
|
rs1237709417
|
0.00002
|
|
NM_001035.3(RYR2):c.8018C>T (p.Ala2673Val)
|
rs869025513
|
0.00002
|
|
NM_001035.3(RYR2):c.8130T>G (p.Asn2710Lys)
|
rs876661388
|
0.00002
|
|
NM_001035.3(RYR2):c.8205C>A (p.Asp2735Glu)
|
rs794728823
|
0.00002
|
|
NM_001035.3(RYR2):c.8357G>C (p.Gly2786Ala)
|
rs1060500149
|
0.00002
|
|
NM_001035.3(RYR2):c.8398C>G (p.Leu2800Val)
|
rs1060500143
|
0.00002
|
|
NM_001035.3(RYR2):c.8407C>T (p.Arg2803Trp)
|
rs754674622
|
0.00002
|
|
NM_001035.3(RYR2):c.8408G>A (p.Arg2803Gln)
|
rs780643623
|
0.00002
|
|
NM_001035.3(RYR2):c.8449G>A (p.Ala2817Thr)
|
rs527576067
|
0.00002
|
|
NM_001035.3(RYR2):c.8470C>T (p.Arg2824Trp)
|
rs796052204
|
0.00002
|
|
NM_001035.3(RYR2):c.8590+18C>T
|
rs376966521
|
0.00002
|
|
NM_001035.3(RYR2):c.8696A>G (p.Asn2899Ser)
|
rs1057524444
|
0.00002
|
|
NM_001035.3(RYR2):c.8742G>A (p.Thr2914=)
|
rs751520306
|
0.00002
|
|
NM_001035.3(RYR2):c.8749A>G (p.Ile2917Val)
|
rs981753891
|
0.00002
|
|
NM_001035.3(RYR2):c.8798T>G (p.Val2933Gly)
|
rs550691734
|
0.00002
|
|
NM_001035.3(RYR2):c.8896-14T>C
|
rs761596075
|
0.00002
|
|
NM_001035.3(RYR2):c.9085A>G (p.Ile3029Val)
|
rs370141970
|
0.00002
|
|
NM_001035.3(RYR2):c.9094T>G (p.Cys3032Gly)
|
rs193007458
|
0.00002
|
|
NM_001035.3(RYR2):c.9259C>T (p.Pro3087Ser)
|
rs777736127
|
0.00002
|
|
NM_001035.3(RYR2):c.9442G>A (p.Val3148Met)
|
rs876657994
|
0.00002
|
|
NM_001035.3(RYR2):c.9561G>C (p.Lys3187Asn)
|
rs1060500168
|
0.00002
|
|
NM_001035.3(RYR2):c.9585C>T (p.Leu3195=)
|
rs747861813
|
0.00002
|
|
NM_001035.3(RYR2):c.9641T>A (p.Leu3214His)
|
rs752385143
|
0.00002
|
|
NM_001035.3(RYR2):c.9673G>A (p.Gly3225Ser)
|
rs780484631
|
0.00002
|
|
NM_001035.3(RYR2):c.9738G>A (p.Met3246Ile)
|
rs771846177
|
0.00002
|
|
NM_001035.3(RYR2):c.9743G>A (p.Arg3248His)
|
rs1041429670
|
0.00002
|
|
NM_001105206.3(LAMA4):c.3506C>T (p.Pro1169Leu)
|
rs730880123
|
0.00002
|
|
NM_001232.4(CASQ2):c.1046A>T (p.Asp349Val)
|
rs372865933
|
0.00002
|
|
NM_001232.4(CASQ2):c.1074G>A (p.Leu358=)
|
rs753872950
|
0.00002
|
|
NM_001232.4(CASQ2):c.114C>T (p.Ser38=)
|
rs571353035
|
0.00002
|
|
NM_001232.4(CASQ2):c.164A>G (p.Tyr55Cys)
|
rs1436844070
|
0.00002
|
|
NM_001232.4(CASQ2):c.234+2T>C
|
rs757789935
|
0.00002
|
|
NM_001232.4(CASQ2):c.44C>G (p.Ser15Cys)
|
rs185539994
|
0.00002
|
|
NM_001232.4(CASQ2):c.474C>T (p.Phe158=)
|
rs754879716
|
0.00002
|
|
NM_001232.4(CASQ2):c.478C>T (p.Arg160Cys)
|
rs750680032
|
0.00002
|
|
NM_001232.4(CASQ2):c.479G>A (p.Arg160His)
|
rs372283956
|
0.00002
|
|
NM_001232.4(CASQ2):c.607-17A>G
|
rs374227794
|
0.00002
|
|
NM_001232.4(CASQ2):c.633G>T (p.Met211Ile)
|
rs377762175
|
0.00002
|
|
NM_001232.4(CASQ2):c.673A>G (p.Ile225Val)
|
rs774546117
|
0.00002
|
|
NM_001232.4(CASQ2):c.737+6T>A
|
rs760688872
|
0.00002
|
|
NM_001232.4(CASQ2):c.762A>G (p.Pro254=)
|
rs753016201
|
0.00002
|
|
NM_001232.4(CASQ2):c.893A>G (p.Asn298Ser)
|
rs548536938
|
0.00002
|
|
NM_001267550.2(TTN):c.78508G>A (p.Gly26170Ser)
|
rs781248790
|
0.00002
|
|
NM_001943.5(DSG2):c.*1471T>C
|
rs574977992
|
0.00002
|
|
NM_001943.5(DSG2):c.*238T>G
|
rs555035341
|
0.00002
|
|
NM_001943.5(DSG2):c.1014+7A>G
|
rs756562276
|
0.00002
|
|
NM_001943.5(DSG2):c.1195G>A (p.Glu399Lys)
|
rs774863785
|
0.00002
|
|
NM_001943.5(DSG2):c.1280+16A>G
|
rs370932437
|
0.00002
|
|
NM_001943.5(DSG2):c.1392A>G (p.Thr464=)
|
rs373918593
|
0.00002
|
|
NM_001943.5(DSG2):c.1480G>A (p.Asp494Asn)
|
rs747248279
|
0.00002
|
|
NM_001943.5(DSG2):c.1503G>T (p.Glu501Asp)
|
rs1191142951
|
0.00002
|
|
NM_001943.5(DSG2):c.1651+15T>C
|
rs781396686
|
0.00002
|
|
NM_001943.5(DSG2):c.1668G>T (p.Leu556=)
|
rs1173417819
|
0.00002
|
|
NM_001943.5(DSG2):c.1820A>G (p.Tyr607Cys)
|
rs766843045
|
0.00002
|
|
NM_001943.5(DSG2):c.1914A>G (p.Gly638=)
|
rs200395484
|
0.00002
|
|
NM_001943.5(DSG2):c.2084C>T (p.Thr695Met)
|
rs200137091
|
0.00002
|
|
NM_001943.5(DSG2):c.2100C>T (p.Ser700=)
|
rs397516704
|
0.00002
|
|
NM_001943.5(DSG2):c.2165G>A (p.Arg722Lys)
|
rs376819371
|
0.00002
|
|
NM_001943.5(DSG2):c.2212G>A (p.Ala738Thr)
|
rs397516705
|
0.00002
|
|
NM_001943.5(DSG2):c.2269A>T (p.Met757Leu)
|
rs750010743
|
0.00002
|
|
NM_001943.5(DSG2):c.2339C>T (p.Ala780Val)
|
rs547406532
|
0.00002
|
|
NM_001943.5(DSG2):c.2569C>T (p.Pro857Ser)
|
rs775091459
|
0.00002
|
|
NM_001943.5(DSG2):c.2623A>G (p.Met875Val)
|
rs370316475
|
0.00002
|
|
NM_001943.5(DSG2):c.2833A>G (p.Thr945Ala)
|
rs746297630
|
0.00002
|
|
NM_001943.5(DSG2):c.2853G>A (p.Val951=)
|
rs775759794
|
0.00002
|
|
NM_001943.5(DSG2):c.2996C>T (p.Ser999Leu)
|
rs762717195
|
0.00002
|
|
NM_001943.5(DSG2):c.2997G>A (p.Ser999=)
|
rs763888499
|
0.00002
|
|
NM_001943.5(DSG2):c.3112A>G (p.Ile1038Val)
|
rs774113529
|
0.00002
|
|
NM_001943.5(DSG2):c.3225G>A (p.Thr1075=)
|
rs773954315
|
0.00002
|
|
NM_001943.5(DSG2):c.3291T>C (p.Asn1097=)
|
rs757473850
|
0.00002
|
|
NM_001943.5(DSG2):c.356G>A (p.Arg119Gln)
|
rs532305326
|
0.00002
|
|
NM_001943.5(DSG2):c.45+18G>T
|
rs762894860
|
0.00002
|
|
NM_001943.5(DSG2):c.527C>T (p.Thr176Ile)
|
rs536617217
|
0.00002
|
|
NM_001943.5(DSG2):c.57C>T (p.Asn19=)
|
rs587780925
|
0.00002
|
|
NM_001943.5(DSG2):c.637C>T (p.Leu213=)
|
rs1317752156
|
0.00002
|
|
NM_001943.5(DSG2):c.675T>C (p.Val225=)
|
rs576938518
|
0.00002
|
|
NM_001943.5(DSG2):c.691-15T>C
|
rs1255608052
|
0.00002
|
|
NM_001943.5(DSG2):c.82-17A>G
|
rs757764234
|
0.00002
|
|
NM_001943.5(DSG2):c.86T>C (p.Leu29Ser)
|
rs786205361
|
0.00002
|
|
NM_001943.5(DSG2):c.8G>A (p.Arg3Gln)
|
rs979865463
|
0.00002
|
|
NM_001943.5(DSG2):c.919C>G (p.Leu307Val)
|
rs1052070604
|
0.00002
|
|
NM_001943.5(DSG2):c.973A>G (p.Thr325Ala)
|
rs745763739
|
0.00002
|
|
NM_001943.5(DSG2):c.977A>T (p.Asp326Val)
|
rs769699241
|
0.00002
|
|
NM_001943.5(DSG2):c.991G>A (p.Glu331Lys)
|
rs121913012
|
0.00002
|
|
NM_002230.4(JUP):c.*19G>A
|
rs782012233
|
0.00002
|
|
NM_002230.4(JUP):c.*316G>A
|
rs910457325
|
0.00002
|
|
NM_002230.4(JUP):c.1086C>T (p.Thr362=)
|
rs781838058
|
0.00002
|
|
NM_002230.4(JUP):c.1152C>T (p.Thr384=)
|
rs782386210
|
0.00002
|
|
NM_002230.4(JUP):c.1324A>T (p.Ile442Phe)
|
rs142213474
|
0.00002
|
|
NM_002230.4(JUP):c.1354A>T (p.Thr452Ser)
|
rs794729045
|
0.00002
|
|
NM_002230.4(JUP):c.1407C>T (p.Ala469=)
|
rs782450410
|
0.00002
|
|
NM_002230.4(JUP):c.148G>A (p.Gly50Arg)
|
rs374008304
|
0.00002
|
|
NM_002230.4(JUP):c.1490T>G (p.Leu497Arg)
|
rs1327324458
|
0.00002
|
|
NM_002230.4(JUP):c.1513A>G (p.Ile505Val)
|
rs955019712
|
0.00002
|
|
NM_002230.4(JUP):c.159C>T (p.Tyr53=)
|
rs370760069
|
0.00002
|
|
NM_002230.4(JUP):c.1618C>T (p.Arg540Cys)
|
rs782455234
|
0.00002
|
|
NM_002230.4(JUP):c.1714C>T (p.Arg572Trp)
|
rs559297418
|
0.00002
|
|
NM_002230.4(JUP):c.1753A>G (p.Thr585Ala)
|
rs782653485
|
0.00002
|
|
NM_002230.4(JUP):c.1804C>T (p.Arg602Cys)
|
rs199511559
|
0.00002
|
|
NM_002230.4(JUP):c.1850C>T (p.Ala617Val)
|
rs782465804
|
0.00002
|
|
NM_002230.4(JUP):c.1865A>T (p.Asp622Val)
|
rs1021325325
|
0.00002
|
|
NM_002230.4(JUP):c.1924+18A>C
|
rs1057520892
|
0.00002
|
|
NM_002230.4(JUP):c.195G>T (p.Val65=)
|
rs1454514424
|
0.00002
|
|
NM_002230.4(JUP):c.2087-18C>T
|
rs776307936
|
0.00002
|
|
NM_002230.4(JUP):c.2153T>C (p.Met718Thr)
|
rs782336064
|
0.00002
|
|
NM_002230.4(JUP):c.2191G>A (p.Asp731Asn)
|
rs782647137
|
0.00002
|
|
NM_002230.4(JUP):c.2194G>A (p.Gly732Ser)
|
rs781885294
|
0.00002
|
|
NM_002230.4(JUP):c.2208G>A (p.Pro736=)
|
rs371508357
|
0.00002
|
|
NM_002230.4(JUP):c.274G>T (p.Gly92Cys)
|
rs781875765
|
0.00002
|
|
NM_002230.4(JUP):c.286G>A (p.Glu96Lys)
|
rs191683892
|
0.00002
|
|
NM_002230.4(JUP):c.351C>T (p.Ala117=)
|
rs397517300
|
0.00002
|
|
NM_002230.4(JUP):c.436G>A (p.Glu146Lys)
|
rs146581757
|
0.00002
|
|
NM_002230.4(JUP):c.447A>G (p.Lys149=)
|
rs199853316
|
0.00002
|
|
NM_002230.4(JUP):c.502C>G (p.Gln168Glu)
|
rs1322804388
|
0.00002
|
|
NM_002230.4(JUP):c.51G>A (p.Gln17=)
|
rs782236888
|
0.00002
|
|
NM_002230.4(JUP):c.521C>T (p.Ala174Val)
|
rs146786437
|
0.00002
|
|
NM_002230.4(JUP):c.524C>T (p.Ser175Leu)
|
rs782435477
|
0.00002
|
|
NM_002230.4(JUP):c.533C>T (p.Ala178Val)
|
rs781976753
|
0.00002
|
|
NM_002230.4(JUP):c.572G>A (p.Arg191His)
|
rs143502391
|
0.00002
|
|
NM_002230.4(JUP):c.646C>T (p.Arg216Trp)
|
rs1490199319
|
0.00002
|
|
NM_002230.4(JUP):c.654G>A (p.Gly218=)
|
rs112105828
|
0.00002
|
|
NM_002230.4(JUP):c.660C>T (p.Leu220=)
|
rs782771003
|
0.00002
|
|
NM_002230.4(JUP):c.675G>A (p.Ser225=)
|
rs782063643
|
0.00002
|
|
NM_002230.4(JUP):c.682A>G (p.Ile228Val)
|
rs374566089
|
0.00002
|
|
NM_002230.4(JUP):c.694G>A (p.Val232Ile)
|
rs137989964
|
0.00002
|
|
NM_002230.4(JUP):c.707+14C>T
|
rs1313165709
|
0.00002
|
|
NM_002230.4(JUP):c.765G>A (p.Leu255=)
|
rs782535119
|
0.00002
|
|
NM_002230.4(JUP):c.804C>T (p.Asp268=)
|
rs782667629
|
0.00002
|
|
NM_002230.4(JUP):c.833A>G (p.Asn278Ser)
|
rs541560189
|
0.00002
|
|
NM_002230.4(JUP):c.902A>G (p.Glu301Gly)
|
rs782058451
|
0.00002
|
|
NM_002230.4(JUP):c.951G>C (p.Gln317His)
|
rs782215140
|
0.00002
|
|
NM_002230.4(JUP):c.964T>C (p.Tyr322His)
|
rs557075259
|
0.00002
|
|
NM_002230.4(JUP):c.99C>T (p.Cys33=)
|
rs139172952
|
0.00002
|
|
NM_003239.5(TGFB3):c.488G>A (p.Arg163Gln)
|
rs920721092
|
0.00002
|
|
NM_003239.5(TGFB3):c.796C>T (p.Arg266Cys)
|
rs770911263
|
0.00002
|
|
NM_003239.5(TGFB3):c.908A>C (p.Asp303Ala)
|
rs768423844
|
0.00002
|
|
NM_004415.4(DSP):c.1040T>C (p.Ile347Thr)
|
rs757208743
|
0.00002
|
|
NM_004415.4(DSP):c.104G>C (p.Gly35Ala)
|
rs202194206
|
0.00002
|
|
NM_004415.4(DSP):c.1068G>A (p.Thr356=)
|
rs766094745
|
0.00002
|
|
NM_004415.4(DSP):c.1149A>G (p.Glu383=)
|
rs572980966
|
0.00002
|
|
NM_004415.4(DSP):c.1191C>T (p.Asp397=)
|
rs1046392713
|
0.00002
|
|
NM_004415.4(DSP):c.1215C>T (p.Cys405=)
|
rs377500825
|
0.00002
|
|
NM_004415.4(DSP):c.1235A>G (p.Gln412Arg)
|
rs1183147646
|
0.00002
|
|
NM_004415.4(DSP):c.1298G>A (p.Arg433His)
|
rs752143388
|
0.00002
|
|
NM_004415.4(DSP):c.130C>T (p.Arg44Trp)
|
rs1255744065
|
0.00002
|
|
NM_004415.4(DSP):c.1349C>T (p.Pro450Leu)
|
rs756357907
|
0.00002
|
|
NM_004415.4(DSP):c.1419+18A>C
|
rs772789817
|
0.00002
|
|
NM_004415.4(DSP):c.1419+5G>C
|
rs1004508873
|
0.00002
|
|
NM_004415.4(DSP):c.1493C>T (p.Pro498Leu)
|
rs761051181
|
0.00002
|
|
NM_004415.4(DSP):c.1522G>A (p.Val508Met)
|
rs751537483
|
0.00002
|
|
NM_004415.4(DSP):c.1663A>T (p.Ile555Phe)
|
rs763241703
|
0.00002
|
|
NM_004415.4(DSP):c.1677G>A (p.Lys559=)
|
rs143356115
|
0.00002
|
|
NM_004415.4(DSP):c.1732A>C (p.Lys578Gln)
|
rs761478865
|
0.00002
|
|
NM_004415.4(DSP):c.1744G>A (p.Asp582Asn)
|
rs756671027
|
0.00002
|
|
NM_004415.4(DSP):c.1816C>T (p.Arg606Trp)
|
rs372467697
|
0.00002
|
|
NM_004415.4(DSP):c.1903+4G>A
|
rs757726608
|
0.00002
|
|
NM_004415.4(DSP):c.2027G>A (p.Arg676His)
|
rs777782794
|
0.00002
|
|
NM_004415.4(DSP):c.2046C>T (p.Cys682=)
|
rs771674559
|
0.00002
|
|
NM_004415.4(DSP):c.2184T>A (p.Asp728Glu)
|
rs750383681
|
0.00002
|
|
NM_004415.4(DSP):c.2234A>G (p.Glu745Gly)
|
rs969462343
|
0.00002
|
|
NM_004415.4(DSP):c.2275G>A (p.Val759Ile)
|
rs745544854
|
0.00002
|
|
NM_004415.4(DSP):c.2329A>G (p.Ile777Val)
|
rs755860619
|
0.00002
|
|
NM_004415.4(DSP):c.2364A>G (p.Glu788=)
|
rs1397865751
|
0.00002
|
|
NM_004415.4(DSP):c.2443A>G (p.Lys815Glu)
|
rs774638728
|
0.00002
|
|
NM_004415.4(DSP):c.2479A>T (p.Thr827Ser)
|
rs1009521297
|
0.00002
|
|
NM_004415.4(DSP):c.2568C>T (p.Phe856=)
|
rs746036365
|
0.00002
|
|
NM_004415.4(DSP):c.2674C>T (p.Arg892Cys)
|
rs750800025
|
0.00002
|
|
NM_004415.4(DSP):c.2675G>A (p.Arg892His)
|
rs758592774
|
0.00002
|
|
NM_004415.4(DSP):c.2719C>T (p.Arg907Cys)
|
rs749051278
|
0.00002
|
|
NM_004415.4(DSP):c.2771T>C (p.Met924Thr)
|
rs752816142
|
0.00002
|
|
NM_004415.4(DSP):c.2861G>A (p.Cys954Tyr)
|
rs779878192
|
0.00002
|
|
NM_004415.4(DSP):c.3147G>A (p.Ser1049=)
|
rs756341143
|
0.00002
|
|
NM_004415.4(DSP):c.3243G>A (p.Glu1081=)
|
rs761399419
|
0.00002
|
|
NM_004415.4(DSP):c.3282G>A (p.Lys1094=)
|
rs2491080
|
0.00002
|
|
NM_004415.4(DSP):c.3303C>T (p.Tyr1101=)
|
rs372440854
|
0.00002
|
|
NM_004415.4(DSP):c.3388G>A (p.Asp1130Asn)
|
rs765769174
|
0.00002
|
|
NM_004415.4(DSP):c.3642T>A (p.Ile1214=)
|
rs755908729
|
0.00002
|
|
NM_004415.4(DSP):c.3661A>G (p.Ile1221Val)
|
rs794728120
|
0.00002
|
|
NM_004415.4(DSP):c.3729A>G (p.Ser1243=)
|
rs150241609
|
0.00002
|
|
NM_004415.4(DSP):c.3753T>C (p.Asp1251=)
|
rs749003139
|
0.00002
|
|
NM_004415.4(DSP):c.3754G>A (p.Glu1252Lys)
|
rs1262533485
|
0.00002
|
|
NM_004415.4(DSP):c.3766C>T (p.Leu1256Phe)
|
rs775080202
|
0.00002
|
|
NM_004415.4(DSP):c.3774C>A (p.Asp1258Glu)
|
rs748733750
|
0.00002
|
|
NM_004415.4(DSP):c.3800G>A (p.Arg1267Gln)
|
rs759698959
|
0.00002
|
|
NM_004415.4(DSP):c.3835G>A (p.Ala1279Thr)
|
rs763915365
|
0.00002
|
|
NM_004415.4(DSP):c.384G>A (p.Met128Ile)
|
rs930440897
|
0.00002
|
|
NM_004415.4(DSP):c.3877A>G (p.Ile1293Val)
|
rs376555665
|
0.00002
|
|
NM_004415.4(DSP):c.3912G>C (p.Glu1304Asp)
|
rs764189408
|
0.00002
|
|
NM_004415.4(DSP):c.3954G>A (p.Lys1318=)
|
rs866656949
|
0.00002
|
|
NM_004415.4(DSP):c.4104C>A (p.Thr1368=)
|
rs1464715776
|
0.00002
|
|
NM_004415.4(DSP):c.4221A>G (p.Glu1407=)
|
rs144427450
|
0.00002
|
|
NM_004415.4(DSP):c.4233G>C (p.Arg1411Ser)
|
rs771721410
|
0.00002
|
|
NM_004415.4(DSP):c.4275G>T (p.Arg1425Ser)
|
rs763489227
|
0.00002
|
|
NM_004415.4(DSP):c.4466T>G (p.Leu1489Arg)
|
rs746782582
|
0.00002
|
|
NM_004415.4(DSP):c.4471G>A (p.Asp1491Asn)
|
rs768402359
|
0.00002
|
|
NM_004415.4(DSP):c.4478A>C (p.Glu1493Ala)
|
rs760433367
|
0.00002
|
|
NM_004415.4(DSP):c.449G>A (p.Arg150Gln)
|
rs587782940
|
0.00002
|
|
NM_004415.4(DSP):c.4514C>T (p.Ala1505Val)
|
rs375919492
|
0.00002
|
|
NM_004415.4(DSP):c.4565C>T (p.Thr1522Met)
|
rs375150075
|
0.00002
|
|
NM_004415.4(DSP):c.4610G>A (p.Arg1537His)
|
rs762135558
|
0.00002
|
|
NM_004415.4(DSP):c.4657G>A (p.Asp1553Asn)
|
rs730880084
|
0.00002
|
|
NM_004415.4(DSP):c.4670C>T (p.Thr1557Met)
|
rs747582734
|
0.00002
|
|
NM_004415.4(DSP):c.467T>A (p.Ile156Asn)
|
rs767692014
|
0.00002
|
|
NM_004415.4(DSP):c.4767C>T (p.Cys1589=)
|
rs763203149
|
0.00002
|
|
NM_004415.4(DSP):c.4808G>A (p.Arg1603Lys)
|
rs869025393
|
0.00002
|
|
NM_004415.4(DSP):c.4867T>C (p.Ser1623Pro)
|
rs749679496
|
0.00002
|
|
NM_004415.4(DSP):c.4886G>T (p.Ser1629Ile)
|
rs200243976
|
0.00002
|
|
NM_004415.4(DSP):c.4991T>G (p.Leu1664Arg)
|
rs746139953
|
0.00002
|
|
NM_004415.4(DSP):c.5009A>G (p.Gln1670Arg)
|
rs1052973336
|
0.00002
|
|
NM_004415.4(DSP):c.517A>T (p.Thr173Ser)
|
rs1372912970
|
0.00002
|
|
NM_004415.4(DSP):c.5183G>A (p.Arg1728Lys)
|
rs750854585
|
0.00002
|
|
NM_004415.4(DSP):c.5193C>T (p.Tyr1731=)
|
rs201663619
|
0.00002
|
|
NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile)
|
rs34738426
|
0.00002
|
|
NM_004415.4(DSP):c.5358A>G (p.Lys1786=)
|
rs771810995
|
0.00002
|
|
NM_004415.4(DSP):c.5383T>A (p.Ser1795Thr)
|
rs764279057
|
0.00002
|
|
NM_004415.4(DSP):c.5610A>G (p.Gln1870=)
|
rs777420903
|
0.00002
|
|
NM_004415.4(DSP):c.5655A>G (p.Arg1885=)
|
rs768996277
|
0.00002
|
|
NM_004415.4(DSP):c.5726T>C (p.Ile1909Thr)
|
rs752360866
|
0.00002
|
|
NM_004415.4(DSP):c.5913G>T (p.Leu1971=)
|
rs373416071
|
0.00002
|
|
NM_004415.4(DSP):c.5932A>G (p.Met1978Val)
|
rs770077556
|
0.00002
|
|
NM_004415.4(DSP):c.5935C>G (p.Gln1979Glu)
|
rs773436512
|
0.00002
|
|
NM_004415.4(DSP):c.6054C>T (p.Ile2018=)
|
rs369700204
|
0.00002
|
|
NM_004415.4(DSP):c.6100G>A (p.Ala2034Thr)
|
rs1043978096
|
0.00002
|
|
NM_004415.4(DSP):c.6223C>T (p.Arg2075Trp)
|
rs751050235
|
0.00002
|
|
NM_004415.4(DSP):c.6269A>G (p.Glu2090Gly)
|
rs755069593
|
0.00002
|
|
NM_004415.4(DSP):c.6345G>T (p.Leu2115Phe)
|
rs766950975
|
0.00002
|
|
NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser)
|
rs372393122
|
0.00002
|
|
NM_004415.4(DSP):c.6451C>T (p.Arg2151Trp)
|
rs181608152
|
0.00002
|
|
NM_004415.4(DSP):c.6464A>G (p.Asp2155Gly)
|
rs752740718
|
0.00002
|
|
NM_004415.4(DSP):c.6476A>T (p.Tyr2159Phe)
|
rs1581822548
|
0.00002
|
|
NM_004415.4(DSP):c.6516T>C (p.Phe2172=)
|
rs1266595950
|
0.00002
|
|
NM_004415.4(DSP):c.6542T>C (p.Val2181Ala)
|
rs730880088
|
0.00002
|
|
NM_004415.4(DSP):c.6597C>T (p.Leu2199=)
|
rs567782337
|
0.00002
|
|
NM_004415.4(DSP):c.6655G>A (p.Val2219Ile)
|
rs397516953
|
0.00002
|
|
NM_004415.4(DSP):c.668G>A (p.Gly223Asp)
|
rs199509943
|
0.00002
|
|
NM_004415.4(DSP):c.6690G>A (p.Pro2230=)
|
rs145751089
|
0.00002
|
|
NM_004415.4(DSP):c.6732C>T (p.Asp2244=)
|
rs764124433
|
0.00002
|
|
NM_004415.4(DSP):c.6762C>T (p.Leu2254=)
|
rs138683913
|
0.00002
|
|
NM_004415.4(DSP):c.7074C>T (p.Leu2358=)
|
rs766369241
|
0.00002
|
|
NM_004415.4(DSP):c.7116C>T (p.Ile2372=)
|
rs185213858
|
0.00002
|
|
NM_004415.4(DSP):c.7117G>A (p.Ala2373Thr)
|
rs373965771
|
0.00002
|
|
NM_004415.4(DSP):c.7184G>A (p.Gly2395Asp)
|
rs777930834
|
0.00002
|
|
NM_004415.4(DSP):c.7185C>T (p.Gly2395=)
|
rs1296848321
|
0.00002
|
|
NM_004415.4(DSP):c.7191C>T (p.Phe2397=)
|
rs150574081
|
0.00002
|
|
NM_004415.4(DSP):c.7197G>A (p.Glu2399=)
|
rs372594837
|
0.00002
|
|
NM_004415.4(DSP):c.7200A>C (p.Glu2400Asp)
|
rs1209240894
|
0.00002
|
|
NM_004415.4(DSP):c.72G>A (p.Pro24=)
|
rs780463807
|
0.00002
|
|
NM_004415.4(DSP):c.7310A>G (p.Glu2437Gly)
|
rs794728132
|
0.00002
|
|
NM_004415.4(DSP):c.740C>T (p.Ala247Val)
|
rs544360130
|
0.00002
|
|
NM_004415.4(DSP):c.7575C>T (p.Gly2525=)
|
rs780156504
|
0.00002
|
|
NM_004415.4(DSP):c.7622G>A (p.Arg2541Lys)
|
rs142078450
|
0.00002
|
|
NM_004415.4(DSP):c.7787T>C (p.Ile2596Thr)
|
rs770590535
|
0.00002
|
|
NM_004415.4(DSP):c.7836C>T (p.Thr2612=)
|
rs762381028
|
0.00002
|
|
NM_004415.4(DSP):c.7883T>C (p.Leu2628Pro)
|
rs147484870
|
0.00002
|
|
NM_004415.4(DSP):c.7924G>A (p.Val2642Ile)
|
rs869025397
|
0.00002
|
|
NM_004415.4(DSP):c.797T>C (p.Met266Thr)
|
rs370890663
|
0.00002
|
|
NM_004415.4(DSP):c.8042A>C (p.Asp2681Ala)
|
rs746166372
|
0.00002
|
|
NM_004415.4(DSP):c.8044C>G (p.Gln2682Glu)
|
rs772365921
|
0.00002
|
|
NM_004415.4(DSP):c.8109A>G (p.Gly2703=)
|
rs78736738
|
0.00002
|
|
NM_004415.4(DSP):c.8233A>G (p.Ile2745Val)
|
rs747284663
|
0.00002
|
|
NM_004415.4(DSP):c.8256G>A (p.Arg2752=)
|
rs1313648350
|
0.00002
|
|
NM_004415.4(DSP):c.8279C>T (p.Ala2760Val)
|
rs774309765
|
0.00002
|
|
NM_004415.4(DSP):c.82T>G (p.Tyr28Asp)
|
rs766454930
|
0.00002
|
|
NM_004415.4(DSP):c.8374T>A (p.Ser2792Thr)
|
rs727504570
|
0.00002
|
|
NM_004415.4(DSP):c.8394T>A (p.Thr2798=)
|
rs775346694
|
0.00002
|
|
NM_004415.4(DSP):c.8402G>A (p.Arg2801His)
|
rs763712887
|
0.00002
|
|
NM_004415.4(DSP):c.8484C>G (p.Gly2828=)
|
rs1467235605
|
0.00002
|
|
NM_004415.4(DSP):c.8536C>G (p.Arg2846Gly)
|
rs397516972
|
0.00002
|
|
NM_004415.4(DSP):c.939+16G>A
|
rs781034092
|
0.00002
|
|
NM_004415.4(DSP):c.940-15T>C
|
rs766635749
|
0.00002
|
|
NM_006073.4(TRDN):c.1043A>G (p.Glu348Gly)
|
rs755708624
|
0.00002
|
|
NM_006073.4(TRDN):c.1098A>C (p.Ala366=)
|
rs1425417640
|
0.00002
|
|
NM_006073.4(TRDN):c.110C>T (p.Thr37Ile)
|
rs1289581577
|
0.00002
|
|
NM_006073.4(TRDN):c.117C>T (p.Asp39=)
|
rs750571542
|
0.00002
|
|
NM_006073.4(TRDN):c.1186+11G>T
|
rs1476535612
|
0.00002
|
|
NM_006073.4(TRDN):c.1220-3C>T
|
rs773907258
|
0.00002
|
|
NM_006073.4(TRDN):c.127A>G (p.Thr43Ala)
|
rs367564871
|
0.00002
|
|
NM_006073.4(TRDN):c.1547G>C (p.Gly516Ala)
|
rs145032876
|
0.00002
|
|
NM_006073.4(TRDN):c.1567G>C (p.Glu523Gln)
|
rs1319380436
|
0.00002
|
|
NM_006073.4(TRDN):c.1582A>G (p.Lys528Glu)
|
rs774550097
|
0.00002
|
|
NM_006073.4(TRDN):c.1625-17C>A
|
rs543749199
|
0.00002
|
|
NM_006073.4(TRDN):c.1671A>G (p.Pro557=)
|
rs935484433
|
0.00002
|
|
NM_006073.4(TRDN):c.1776A>C (p.Ile592=)
|
rs367716265
|
0.00002
|
|
NM_006073.4(TRDN):c.1871-6A>G
|
rs185268405
|
0.00002
|
|
NM_006073.4(TRDN):c.1934T>G (p.Leu645Ter)
|
rs747836980
|
0.00002
|
|
NM_006073.4(TRDN):c.1951+16G>A
|
rs377046739
|
0.00002
|
|
NM_006073.4(TRDN):c.1975+5G>T
|
rs899940538
|
0.00002
|
|
NM_006073.4(TRDN):c.1976-6C>G
|
rs368752139
|
0.00002
|
|
NM_006073.4(TRDN):c.1990G>A (p.Val664Ile)
|
rs756257644
|
0.00002
|
|
NM_006073.4(TRDN):c.2110T>A (p.Phe704Ile)
|
rs780892167
|
0.00002
|
|
NM_006073.4(TRDN):c.2164C>G (p.Pro722Ala)
|
rs774449661
|
0.00002
|
|
NM_006073.4(TRDN):c.2182G>A (p.Gly728Arg)
|
rs777497275
|
0.00002
|
|
NM_006073.4(TRDN):c.2185C>T (p.Gln729Ter)
|
rs769741426
|
0.00002
|
|
NM_006073.4(TRDN):c.439A>G (p.Lys147Glu)
|
rs554795197
|
0.00002
|
|
NM_006073.4(TRDN):c.484+7del
|
rs764922806
|
0.00002
|
|
NM_006073.4(TRDN):c.485-7T>C
|
rs921833812
|
0.00002
|
|
NM_006073.4(TRDN):c.551-4T>C
|
rs1413167708
|
0.00002
|
|
NM_006073.4(TRDN):c.605C>T (p.Ala202Val)
|
rs765653366
|
0.00002
|
|
NM_006073.4(TRDN):c.863C>T (p.Pro288Leu)
|
rs1408332939
|
0.00002
|
|
NM_006073.4(TRDN):c.931+10T>A
|
rs754118635
|
0.00002
|
|
NM_006073.4(TRDN):c.992-12T>C
|
rs1184620677
|
0.00002
|
|
NM_013266.4(CTNNA3):c.1128+7G>T
|
rs200113495
|
0.00002
|
|
NM_013266.4(CTNNA3):c.1176G>A (p.Thr392=)
|
rs138898184
|
0.00002
|
|
NM_013266.4(CTNNA3):c.1248G>A (p.Ala416=)
|
rs1046657762
|
0.00002
|
|
NM_013266.4(CTNNA3):c.1402G>A (p.Ala468Thr)
|
rs151007312
|
0.00002
|
|
NM_013266.4(CTNNA3):c.1451G>A (p.Arg484His)
|
rs748621335
|
0.00002
|
|
NM_013266.4(CTNNA3):c.1488C>T (p.Ala496=)
|
rs774425528
|
0.00002
|
|
NM_013266.4(CTNNA3):c.1531+10T>G
|
rs370348361
|
0.00002
|
|
NM_013266.4(CTNNA3):c.1695A>G (p.Glu565=)
|
rs755301482
|
0.00002
|
|
NM_013266.4(CTNNA3):c.16_17insA (p.Pro6fs)
|
rs776492451
|
0.00002
|
|
NM_013266.4(CTNNA3):c.1740T>C (p.Pro580=)
|
rs775370911
|
0.00002
|
|
NM_013266.4(CTNNA3):c.1853A>G (p.His618Arg)
|
rs184992188
|
0.00002
|
|
NM_013266.4(CTNNA3):c.1880T>A (p.Ile627Asn)
|
rs755658279
|
0.00002
|
|
NM_013266.4(CTNNA3):c.1885-16T>C
|
rs754598894
|
0.00002
|
|
NM_013266.4(CTNNA3):c.1885-9T>C
|
rs766156283
|
0.00002
|
|
NM_013266.4(CTNNA3):c.2133C>T (p.Ile711=)
|
rs754084649
|
0.00002
|
|
NM_013266.4(CTNNA3):c.213C>G (p.Asp71Glu)
|
rs771791661
|
0.00002
|
|
NM_013266.4(CTNNA3):c.2647T>C (p.Leu883=)
|
rs751884087
|
0.00002
|
|
NM_013266.4(CTNNA3):c.370G>A (p.Ala124Thr)
|
rs779719958
|
0.00002
|
|
NM_013266.4(CTNNA3):c.592C>A (p.Pro198Thr)
|
rs777817815
|
0.00002
|
|
NM_013266.4(CTNNA3):c.622C>T (p.Arg208Ter)
|
rs755323657
|
0.00002
|
|
NM_013266.4(CTNNA3):c.66C>T (p.Thr22=)
|
rs761454862
|
0.00002
|
|
NM_013266.4(CTNNA3):c.670G>C (p.Ala224Pro)
|
rs1396052717
|
0.00002
|
|
NM_013266.4(CTNNA3):c.67G>A (p.Val23Met)
|
rs776250185
|
0.00002
|
|
NM_013266.4(CTNNA3):c.764C>T (p.Ala255Val)
|
rs1477830086
|
0.00002
|
|
NM_013266.4(CTNNA3):c.76C>A (p.Leu26Ile)
|
rs1327418198
|
0.00002
|
|
NM_013266.4(CTNNA3):c.843+7C>T
|
rs1479648857
|
0.00002
|
|
NM_013266.4(CTNNA3):c.894A>G (p.Pro298=)
|
rs1219455652
|
0.00002
|
|
NM_013266.4(CTNNA3):c.945G>A (p.Ala315=)
|
rs375992799
|
0.00002
|
|
NM_013266.4(CTNNA3):c.99+5T>C
|
rs200746095
|
0.00002
|
|
NM_024334.3(TMEM43):c.1000+16G>A
|
rs377252553
|
0.00002
|
|
NM_024334.3(TMEM43):c.1000+5G>T
|
rs376589026
|
0.00002
|
|
NM_024334.3(TMEM43):c.1001-7T>C
|
rs781382808
|
0.00002
|
|
NM_024334.3(TMEM43):c.1022G>A (p.Arg341Gln)
|
rs749727938
|
0.00002
|
|
NM_024334.3(TMEM43):c.1059C>G (p.Phe353Leu)
|
rs730880227
|
0.00002
|
|
NM_024334.3(TMEM43):c.1140C>T (p.Ala380=)
|
rs1055842863
|
0.00002
|
|
NM_024334.3(TMEM43):c.1172G>A (p.Arg391Gln)
|
rs757742631
|
0.00002
|
|
NM_024334.3(TMEM43):c.1184C>G (p.Pro395Arg)
|
rs1169613716
|
0.00002
|
|
NM_024334.3(TMEM43):c.179C>T (p.Thr60Met)
|
rs1362645227
|
0.00002
|
|
NM_024334.3(TMEM43):c.216G>A (p.Val72=)
|
rs943527392
|
0.00002
|
|
NM_024334.3(TMEM43):c.317A>G (p.Tyr106Cys)
|
rs747310600
|
0.00002
|
|
NM_024334.3(TMEM43):c.31C>T (p.Arg11Trp)
|
rs201085402
|
0.00002
|
|
NM_024334.3(TMEM43):c.323T>C (p.Val108Ala)
|
rs182351748
|
0.00002
|
|
NM_024334.3(TMEM43):c.32G>A (p.Arg11Gln)
|
rs568179990
|
0.00002
|
|
NM_024334.3(TMEM43):c.355G>A (p.Val119Met)
|
rs757430674
|
0.00002
|
|
NM_024334.3(TMEM43):c.468C>T (p.Ile156=)
|
rs769654404
|
0.00002
|
|
NM_024334.3(TMEM43):c.475A>G (p.Lys159Glu)
|
rs1269566290
|
0.00002
|
|
NM_024334.3(TMEM43):c.600C>T (p.Val200=)
|
rs760323011
|
0.00002
|
|
NM_024334.3(TMEM43):c.601G>A (p.Asp201Asn)
|
rs138182276
|
0.00002
|
|
NM_024334.3(TMEM43):c.625T>G (p.Ser209Ala)
|
rs397517386
|
0.00002
|
|
NM_024334.3(TMEM43):c.705+6C>T
|
rs185025731
|
0.00002
|
|
NM_024334.3(TMEM43):c.719G>A (p.Arg240His)
|
rs758817244
|
0.00002
|
|
NM_024334.3(TMEM43):c.747C>T (p.Ser249=)
|
rs549809535
|
0.00002
|
|
NM_024334.3(TMEM43):c.778G>A (p.Val260Met)
|
rs758872772
|
0.00002
|
|
NM_024334.3(TMEM43):c.781-4C>T
|
rs1445555724
|
0.00002
|
|
NM_024334.3(TMEM43):c.829A>T (p.Thr277Ser)
|
rs532872056
|
0.00002
|
|
NM_024334.3(TMEM43):c.956T>C (p.Met319Thr)
|
rs775113815
|
0.00002
|
|
NM_024334.3(TMEM43):c.98C>T (p.Ser33Leu)
|
rs539753097
|
0.00002
|
|
NM_024422.6(DSC2):c.*1110A>G
|
rs1358624129
|
0.00002
|
|
NM_024422.6(DSC2):c.*1356G>A
|
rs1986629320
|
0.00002
|
|
NM_024422.6(DSC2):c.*784G>T
|
rs1613246
|
0.00002
|
|
NM_024422.6(DSC2):c.-155G>T
|
rs886053699
|
0.00002
|
|
NM_024422.6(DSC2):c.1033A>G (p.Ile345Val)
|
rs1177194145
|
0.00002
|
|
NM_024422.6(DSC2):c.1231A>G (p.Lys411Glu)
|
rs560482778
|
0.00002
|
|
NM_024422.6(DSC2):c.1263+10A>G
|
rs1462640047
|
0.00002
|
|
NM_024422.6(DSC2):c.1401G>A (p.Glu467=)
|
rs977781359
|
0.00002
|
|
NM_024422.6(DSC2):c.1438A>G (p.Met480Val)
|
rs370616107
|
0.00002
|
|
NM_024422.6(DSC2):c.1456G>A (p.Val486Met)
|
rs188634770
|
0.00002
|
|
NM_024422.6(DSC2):c.149G>A (p.Gly50Asp)
|
rs397517391
|
0.00002
|
|
NM_024422.6(DSC2):c.1667G>A (p.Gly556Glu)
|
rs977269905
|
0.00002
|
|
NM_024422.6(DSC2):c.1680G>A (p.Thr560=)
|
rs567202599
|
0.00002
|
|
NM_024422.6(DSC2):c.1846A>G (p.Thr616Ala)
|
rs753887142
|
0.00002
|
|
NM_024422.6(DSC2):c.1862G>T (p.Arg621Ile)
|
rs1225904818
|
0.00002
|
|
NM_024422.6(DSC2):c.1875G>C (p.Leu625=)
|
rs142594406
|
0.00002
|
|
NM_024422.6(DSC2):c.1986T>G (p.Thr662=)
|
rs757613258
|
0.00002
|
|
NM_024422.6(DSC2):c.2031C>T (p.Cys677=)
|
rs754488475
|
0.00002
|
|
NM_024422.6(DSC2):c.20C>T (p.Ser7Phe)
|
rs1227564823
|
0.00002
|
|
NM_024422.6(DSC2):c.2126-20A>T
|
rs779297158
|
0.00002
|
|
NM_024422.6(DSC2):c.2138C>T (p.Thr713Met)
|
rs180863872
|
0.00002
|
|
NM_024422.6(DSC2):c.2163G>A (p.Thr721=)
|
rs773220437
|
0.00002
|
|
NM_024422.6(DSC2):c.2287G>A (p.Ala763Thr)
|
rs777004957
|
0.00002
|
|
NM_024422.6(DSC2):c.2381C>T (p.Ser794Leu)
|
rs1617629
|
0.00002
|
|
NM_024422.6(DSC2):c.2392C>T (p.Arg798Trp)
|
rs201548399
|
0.00002
|
|
NM_024422.6(DSC2):c.2475G>C (p.Glu825Asp)
|
rs776401728
|
0.00002
|
|
NM_024422.6(DSC2):c.2571T>C (p.Tyr857=)
|
rs370144781
|
0.00002
|
|
NM_024422.6(DSC2):c.2664G>T (p.Glu888Asp)
|
rs748675400
|
0.00002
|
|
NM_024422.6(DSC2):c.27C>T (p.Ser9=)
|
rs1406804472
|
0.00002
|
|
NM_024422.6(DSC2):c.324A>G (p.Lys108=)
|
rs779651366
|
0.00002
|
|
NM_024422.6(DSC2):c.360A>G (p.Leu120=)
|
rs375772629
|
0.00002
|
|
NM_024422.6(DSC2):c.394C>T (p.Arg132Cys)
|
rs727504578
|
0.00002
|
|
NM_024422.6(DSC2):c.489G>A (p.Thr163=)
|
rs752952811
|
0.00002
|
|
NM_024422.6(DSC2):c.658G>A (p.Gly220Arg)
|
rs750961818
|
0.00002
|
|
NM_024422.6(DSC2):c.69+9A>G
|
rs1268711423
|
0.00002
|
|
NM_024422.6(DSC2):c.745A>C (p.Thr249Pro)
|
rs149848359
|
0.00002
|
|
NM_024422.6(DSC2):c.750T>C (p.Phe250=)
|
rs781667894
|
0.00002
|
|
NM_024422.6(DSC2):c.824C>T (p.Thr275Met)
|
rs397517404
|
0.00002
|
|
NM_024422.6(DSC2):c.865C>T (p.Pro289Ser)
|
rs200802591
|
0.00002
|
|
NM_024422.6(DSC2):c.874C>T (p.Pro292Ser)
|
rs767340313
|
0.00002
|
|
NM_024422.6(DSC2):c.898A>G (p.Thr300Ala)
|
rs531245154
|
0.00002
|
|
NM_024422.6(DSC2):c.943-1G>A
|
rs796756333
|
0.00002
|
|
NM_024422.6(DSC2):c.965A>G (p.Lys322Arg)
|
rs1157312147
|
0.00002
|
|
NM_024422.6(DSC2):c.977A>C (p.Gln326Pro)
|
rs397517409
|
0.00002
|
|
NM_000257.4(MYH7):c.4301G>A (p.Arg1434His)
|
rs780625785
|
0.00001
|
|
NM_000257.4(MYH7):c.4817G>A (p.Arg1606His)
|
rs373514686
|
0.00001
|
|
NM_000335.5(SCN5A):c.2399G>A (p.Arg800His)
|
rs566251672
|
0.00001
|
|
NM_000335.5(SCN5A):c.4514C>T (p.Pro1505Leu)
|
rs766554531
|
0.00001
|
|
NM_000335.5(SCN5A):c.5690G>A (p.Arg1897His)
|
rs370694515
|
0.00001
|
|
NM_001005242.3(PKP2):c.1024T>C (p.Ser342Pro)
|
rs563797120
|
0.00001
|
|
NM_001005242.3(PKP2):c.1025C>T (p.Ser342Phe)
|
rs1282672078
|
0.00001
|
|
NM_001005242.3(PKP2):c.1034+10C>T
|
rs759397762
|
0.00001
|
|
NM_001005242.3(PKP2):c.1034+1G>A
|
rs869025496
|
0.00001
|
|
NM_001005242.3(PKP2):c.1035-9T>C
|
rs1057522716
|
0.00001
|
|
NM_001005242.3(PKP2):c.1063C>T (p.Arg355Ter)
|
rs754912778
|
0.00001
|
|
NM_001005242.3(PKP2):c.1069G>A (p.Val357Met)
|
rs766334171
|
0.00001
|
|
NM_001005242.3(PKP2):c.1086A>G (p.Ala362=)
|
rs376167178
|
0.00001
|
|
NM_001005242.3(PKP2):c.1091A>T (p.His364Leu)
|
rs763114466
|
0.00001
|
|
NM_001005242.3(PKP2):c.1095G>A (p.Met365Ile)
|
rs770333863
|
0.00001
|
|
NM_001005242.3(PKP2):c.1106G>A (p.Arg369Lys)
|
rs771293688
|
0.00001
|
|
NM_001005242.3(PKP2):c.110A>G (p.Lys37Arg)
|
rs781400459
|
0.00001
|
|
NM_001005242.3(PKP2):c.1129A>G (p.Ile377Val)
|
rs1565596114
|
0.00001
|
|
NM_001005242.3(PKP2):c.1130T>C (p.Ile377Thr)
|
rs397516985
|
0.00001
|
|
NM_001005242.3(PKP2):c.1132C>T (p.Gln378Ter)
|
rs397516986
|
0.00001
|
|
NM_001005242.3(PKP2):c.1138G>A (p.Glu380Lys)
|
rs878898365
|
0.00001
|
|
NM_001005242.3(PKP2):c.1162C>T (p.Arg388Trp)
|
rs766209297
|
0.00001
|
|
NM_001005242.3(PKP2):c.1163G>A (p.Arg388Gln)
|
rs756000218
|
0.00001
|
|
NM_001005242.3(PKP2):c.1171-2A>G
|
rs794729133
|
0.00001
|
|
NM_001005242.3(PKP2):c.1181T>A (p.Leu394His)
|
rs766842360
|
0.00001
|
|
NM_001005242.3(PKP2):c.1231G>A (p.Val411Ile)
|
rs192041220
|
0.00001
|
|
NM_001005242.3(PKP2):c.1236G>A (p.Gln412=)
|
rs779749104
|
0.00001
|
|
NM_001005242.3(PKP2):c.1292T>C (p.Leu431Ser)
|
rs143397927
|
0.00001
|
|
NM_001005242.3(PKP2):c.1312G>A (p.Gly438Arg)
|
rs1956689163
|
0.00001
|
|
NM_001005242.3(PKP2):c.1321C>T (p.Arg441Trp)
|
rs755233999
|
0.00001
|
|
NM_001005242.3(PKP2):c.1326G>A (p.Leu442=)
|
rs377076035
|
0.00001
|
|
NM_001005242.3(PKP2):c.1329C>G (p.Leu443=)
|
rs1365569704
|
0.00001
|
|
NM_001005242.3(PKP2):c.1363A>G (p.Lys455Glu)
|
rs1649395606
|
0.00001
|
|
NM_001005242.3(PKP2):c.1367A>C (p.Lys456Thr)
|
rs750897570
|
0.00001
|
|
NM_001005242.3(PKP2):c.1379-1983C>G
|
rs377000496
|
0.00001
|
|
NM_001005242.3(PKP2):c.1379-1998C>T
|
rs151212477
|
0.00001
|
|
NM_001005242.3(PKP2):c.1379-2023C>T
|
rs587781108
|
0.00001
|
|
NM_001005242.3(PKP2):c.1379-2028C>A
|
rs752119095
|
0.00001
|
|
NM_001005242.3(PKP2):c.1379-2033G>A
|
rs757689437
|
0.00001
|
|
NM_001005242.3(PKP2):c.1379-2051G>A
|
rs1408803372
|
0.00001
|
|
NM_001005242.3(PKP2):c.1379-2055G>A
|
rs920363668
|
0.00001
|
|
NM_001005242.3(PKP2):c.1379-2111C>T
|
rs1172703594
|
0.00001
|
|
NM_001005242.3(PKP2):c.1379-2112A>G
|
rs367657856
|
0.00001
|
|
NM_001005242.3(PKP2):c.1379-2A>T
|
rs1453983744
|
0.00001
|
|
NM_001005242.3(PKP2):c.1379-5T>C
|
rs189036647
|
0.00001
|
|
NM_001005242.3(PKP2):c.1394T>C (p.Leu465Ser)
|
rs374163198
|
0.00001
|
|
NM_001005242.3(PKP2):c.1419T>C (p.Asn473=)
|
rs757126132
|
0.00001
|
|
NM_001005242.3(PKP2):c.1426A>G (p.Ile476Val)
|
rs763749576
|
0.00001
|
|
NM_001005242.3(PKP2):c.1429A>G (p.Thr477Ala)
|
rs775192286
|
0.00001
|
|
NM_001005242.3(PKP2):c.1446G>A (p.Thr482=)
|
rs370753286
|
0.00001
|
|
NM_001005242.3(PKP2):c.1457A>T (p.Asn486Ile)
|
rs780349259
|
0.00001
|
|
NM_001005242.3(PKP2):c.1476T>C (p.Ser492=)
|
rs751082209
|
0.00001
|
|
NM_001005242.3(PKP2):c.1492G>A (p.Asp498Asn)
|
rs879068263
|
0.00001
|
|
NM_001005242.3(PKP2):c.149C>T (p.Thr50Ile)
|
rs1402887591
|
0.00001
|
|
NM_001005242.3(PKP2):c.14G>A (p.Gly5Asp)
|
rs774778142
|
0.00001
|
|
NM_001005242.3(PKP2):c.1515G>A (p.Leu505=)
|
rs148533214
|
0.00001
|
|
NM_001005242.3(PKP2):c.1518C>T (p.Leu506=)
|
rs1320642436
|
0.00001
|
|
NM_001005242.3(PKP2):c.1539C>T (p.Asn513=)
|
rs535581825
|
0.00001
|
|
NM_001005242.3(PKP2):c.154A>G (p.Lys52Glu)
|
rs920017662
|
0.00001
|
|
NM_001005242.3(PKP2):c.1557-7del
|
rs1258853212
|
0.00001
|
|
NM_001005242.3(PKP2):c.158G>A (p.Ser53Asn)
|
rs776363973
|
0.00001
|
|
NM_001005242.3(PKP2):c.1604G>A (p.Cys535Tyr)
|
rs1956409874
|
0.00001
|
|
NM_001005242.3(PKP2):c.1641A>G (p.Arg547=)
|
rs1264399626
|
0.00001
|
|
NM_001005242.3(PKP2):c.165G>T (p.Arg55=)
|
rs1472609900
|
0.00001
|
|
NM_001005242.3(PKP2):c.1671del (p.Asp557fs)
|
rs794729129
|
0.00001
|
|
NM_001005242.3(PKP2):c.1674+13A>C
|
rs768698663
|
0.00001
|
|
NM_001005242.3(PKP2):c.1674+7C>G
|
rs868645170
|
0.00001
|
|
NM_001005242.3(PKP2):c.1680G>A (p.Thr560=)
|
rs773662874
|
0.00001
|
|
NM_001005242.3(PKP2):c.1711T>A (p.Ser571Thr)
|
rs768286281
|
0.00001
|
|
NM_001005242.3(PKP2):c.1716C>A (p.Tyr572Ter)
|
rs1486464304
|
0.00001
|
|
NM_001005242.3(PKP2):c.1748C>G (p.Ser583Cys)
|
rs769817013
|
0.00001
|
|
NM_001005242.3(PKP2):c.1757T>C (p.Ile586Thr)
|
rs397517011
|
0.00001
|
|
NM_001005242.3(PKP2):c.1760A>G (p.Tyr587Cys)
|
rs1060501183
|
0.00001
|
|
NM_001005242.3(PKP2):c.1762A>G (p.Ile588Val)
|
rs1169362109
|
0.00001
|
|
NM_001005242.3(PKP2):c.1772G>A (p.Arg591Gln)
|
rs755076586
|
0.00001
|
|
NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter)
|
rs397517012
|
0.00001
|
|
NM_001005242.3(PKP2):c.1784C>A (p.Thr595Asn)
|
rs1354122232
|
0.00001
|
|
NM_001005242.3(PKP2):c.1794C>A (p.Asn598Lys)
|
rs727503370
|
0.00001
|
|
NM_001005242.3(PKP2):c.1834A>T (p.Lys612Ter)
|
rs1158333072
|
0.00001
|
|
NM_001005242.3(PKP2):c.1840-10G>C
|
rs768000598
|
0.00001
|
|
NM_001005242.3(PKP2):c.1840-13T>C
|
rs533952272
|
0.00001
|
|
NM_001005242.3(PKP2):c.1840-5G>C
|
rs752016948
|
0.00001
|
|
NM_001005242.3(PKP2):c.1846C>T (p.Gln616Ter)
|
rs762753884
|
0.00001
|
|
NM_001005242.3(PKP2):c.1896G>T (p.Trp632Cys)
|
rs193922673
|
0.00001
|
|
NM_001005242.3(PKP2):c.1916T>C (p.Ile639Thr)
|
rs1956376395
|
0.00001
|
|
NM_001005242.3(PKP2):c.1920G>T (p.Arg640Ser)
|
rs760660042
|
0.00001
|
|
NM_001005242.3(PKP2):c.192C>A (p.Leu64=)
|
rs768376044
|
0.00001
|
|
NM_001005242.3(PKP2):c.1932C>T (p.Ser644=)
|
rs763042549
|
0.00001
|
|
NM_001005242.3(PKP2):c.1939G>A (p.Ala647Thr)
|
rs759920696
|
0.00001
|
|
NM_001005242.3(PKP2):c.1985T>C (p.Leu662Pro)
|
rs878854709
|
0.00001
|
|
NM_001005242.3(PKP2):c.1989G>T (p.Gln663His)
|
rs765884775
|
0.00001
|
|
NM_001005242.3(PKP2):c.2013+3G>A
|
rs1222272381
|
0.00001
|
|
NM_001005242.3(PKP2):c.2013+6_2013+9dup
|
rs768133889
|
0.00001
|
|
NM_001005242.3(PKP2):c.2014-12C>G
|
rs990954323
|
0.00001
|
|
NM_001005242.3(PKP2):c.2014-7A>G
|
rs1555141645
|
0.00001
|
|
NM_001005242.3(PKP2):c.2017C>T (p.Pro673Ser)
|
rs757205704
|
0.00001
|
|
NM_001005242.3(PKP2):c.2030C>T (p.Ala677Val)
|
rs1359431679
|
0.00001
|
|
NM_001005242.3(PKP2):c.2070C>G (p.Thr690=)
|
rs587781109
|
0.00001
|
|
NM_001005242.3(PKP2):c.2071C>G (p.Arg691Gly)
|
rs121434421
|
0.00001
|
|
NM_001005242.3(PKP2):c.212C>T (p.Ser71Phe)
|
rs796597346
|
0.00001
|
|
NM_001005242.3(PKP2):c.2159A>G (p.Asn720Ser)
|
rs767496004
|
0.00001
|
|
NM_001005242.3(PKP2):c.2168-5T>C
|
rs1227875716
|
0.00001
|
|
NM_001005242.3(PKP2):c.2176A>T (p.Thr726Ser)
|
rs1249551566
|
0.00001
|
|
NM_001005242.3(PKP2):c.2194T>C (p.Ser732Pro)
|
rs1114167346
|
0.00001
|
|
NM_001005242.3(PKP2):c.2200A>G (p.Ile734Val)
|
rs556563706
|
0.00001
|
|
NM_001005242.3(PKP2):c.2213T>C (p.Val738Ala)
|
rs1555141066
|
0.00001
|
|
NM_001005242.3(PKP2):c.2216C>T (p.Pro739Leu)
|
rs758834771
|
0.00001
|
|
NM_001005242.3(PKP2):c.2217G>A (p.Pro739=)
|
rs753226330
|
0.00001
|
|
NM_001005242.3(PKP2):c.222C>A (p.Asn74Lys)
|
rs753180642
|
0.00001
|
|
NM_001005242.3(PKP2):c.224-11C>A
|
rs928408888
|
0.00001
|
|
NM_001005242.3(PKP2):c.224-9T>C
|
rs1238184418
|
0.00001
|
|
NM_001005242.3(PKP2):c.2246C>A (p.Ala749Asp)
|
rs727504950
|
0.00001
|
|
NM_001005242.3(PKP2):c.224G>A (p.Gly75Glu)
|
rs267603443
|
0.00001
|
|
NM_001005242.3(PKP2):c.2282A>G (p.Asn761Ser)
|
rs1488359220
|
0.00001
|
|
NM_001005242.3(PKP2):c.2300G>A (p.Arg767His)
|
rs533884071
|
0.00001
|
|
NM_001005242.3(PKP2):c.2317G>A (p.Gly773Arg)
|
rs766775778
|
0.00001
|
|
NM_001005242.3(PKP2):c.2349A>G (p.Ala783=)
|
rs139258347
|
0.00001
|
|
NM_001005242.3(PKP2):c.2356G>C (p.Ala786Pro)
|
rs768463319
|
0.00001
|
|
NM_001005242.3(PKP2):c.2358-6T>C
|
rs761613652
|
0.00001
|
|
NM_001005242.3(PKP2):c.2363C>T (p.Ala788Val)
|
rs763663760
|
0.00001
|
|
NM_001005242.3(PKP2):c.2379T>C (p.Ser793=)
|
rs532024812
|
0.00001
|
|
NM_001005242.3(PKP2):c.2391C>T (p.Ser797=)
|
rs772225819
|
0.00001
|
|
NM_001005242.3(PKP2):c.2409G>A (p.Leu803=)
|
rs374689137
|
0.00001
|
|
NM_001005242.3(PKP2):c.2411G>C (p.Trp804Ser)
|
rs117425357
|
0.00001
|
|
NM_001005242.3(PKP2):c.2428C>T (p.His810Tyr)
|
rs397517023
|
0.00001
|
|
NM_001005242.3(PKP2):c.2438A>T (p.Tyr813Phe)
|
rs751287217
|
0.00001
|
|
NM_001005242.3(PKP2):c.2445+9A>G
|
rs770027185
|
0.00001
|
|
NM_001005242.3(PKP2):c.2446-2A>C
|
rs1060501188
|
0.00001
|
|
NM_001005242.3(PKP2):c.2446-8T>C
|
rs794729101
|
0.00001
|
|
NM_001005242.3(PKP2):c.2455A>G (p.Lys819Glu)
|
rs1235732912
|
0.00001
|
|
NM_001005242.3(PKP2):c.2457G>A (p.Lys819=)
|
rs777477467
|
0.00001
|
|
NM_001005242.3(PKP2):c.2471T>A (p.Val824Asp)
|
rs752195586
|
0.00001
|
|
NM_001005242.3(PKP2):c.2479C>T (p.Arg827Trp)
|
rs754873048
|
0.00001
|
|
NM_001005242.3(PKP2):c.2502C>T (p.Ser834=)
|
rs763095604
|
0.00001
|
|
NM_001005242.3(PKP2):c.298G>A (p.Gly100Ser)
|
rs769509055
|
0.00001
|
|
NM_001005242.3(PKP2):c.29A>G (p.Tyr10Cys)
|
rs1181973282
|
0.00001
|
|
NM_001005242.3(PKP2):c.301C>T (p.Arg101Cys)
|
rs796827562
|
0.00001
|
|
NM_001005242.3(PKP2):c.35A>G (p.Tyr12Cys)
|
rs763433296
|
0.00001
|
|
NM_001005242.3(PKP2):c.374G>A (p.Arg125Lys)
|
rs1278479150
|
0.00001
|
|
NM_001005242.3(PKP2):c.390C>G (p.Tyr130Ter)
|
rs763303290
|
0.00001
|
|
NM_001005242.3(PKP2):c.39C>T (p.Ile13=)
|
rs770102631
|
0.00001
|
|
NM_001005242.3(PKP2):c.405C>T (p.Ser135=)
|
rs775423741
|
0.00001
|
|
NM_001005242.3(PKP2):c.409G>A (p.Glu137Lys)
|
rs781739949
|
0.00001
|
|
NM_001005242.3(PKP2):c.414A>T (p.Glu138Asp)
|
rs771153426
|
0.00001
|
|
NM_001005242.3(PKP2):c.454C>T (p.Pro152Ser)
|
rs972806409
|
0.00001
|
|
NM_001005242.3(PKP2):c.462C>G (p.Ser154Arg)
|
rs397517026
|
0.00001
|
|
NM_001005242.3(PKP2):c.467C>T (p.Pro156Leu)
|
rs766360871
|
0.00001
|
|
NM_001005242.3(PKP2):c.473G>A (p.Arg158Lys)
|
rs397517027
|
0.00001
|
|
NM_001005242.3(PKP2):c.484A>G (p.Thr162Ala)
|
rs765195368
|
0.00001
|
|
NM_001005242.3(PKP2):c.485C>T (p.Thr162Met)
|
rs759687672
|
0.00001
|
|
NM_001005242.3(PKP2):c.492C>T (p.Ser164=)
|
rs747582030
|
0.00001
|
|
NM_001005242.3(PKP2):c.493G>A (p.Asp165Asn)
|
rs886049322
|
0.00001
|
|
NM_001005242.3(PKP2):c.498C>T (p.Tyr166=)
|
rs772439804
|
0.00001
|
|
NM_001005242.3(PKP2):c.525G>A (p.Gly175=)
|
rs748807540
|
0.00001
|
|
NM_001005242.3(PKP2):c.530C>A (p.Thr177Asn)
|
rs779467662
|
0.00001
|
|
NM_001005242.3(PKP2):c.533dup (p.His179fs)
|
rs769220833
|
0.00001
|
|
NM_001005242.3(PKP2):c.536A>G (p.His179Arg)
|
rs1371222715
|
0.00001
|
|
NM_001005242.3(PKP2):c.553C>T (p.Arg185Trp)
|
rs571569344
|
0.00001
|
|
NM_001005242.3(PKP2):c.554G>A (p.Arg185Gln)
|
rs765477952
|
0.00001
|
|
NM_001005242.3(PKP2):c.559G>A (p.Ala187Thr)
|
rs200095747
|
0.00001
|
|
NM_001005242.3(PKP2):c.575C>T (p.Pro192Leu)
|
rs748566573
|
0.00001
|
|
NM_001005242.3(PKP2):c.598G>A (p.Val200Met)
|
rs369923216
|
0.00001
|
|
NM_001005242.3(PKP2):c.610C>T (p.Arg204Cys)
|
rs777497296
|
0.00001
|
|
NM_001005242.3(PKP2):c.681C>T (p.Ser227=)
|
rs762263587
|
0.00001
|
|
NM_001005242.3(PKP2):c.688G>A (p.Val230Ile)
|
rs543281875
|
0.00001
|
|
NM_001005242.3(PKP2):c.713C>T (p.Pro238Leu)
|
rs560220280
|
0.00001
|
|
NM_001005242.3(PKP2):c.720G>A (p.Leu240=)
|
rs777567315
|
0.00001
|
|
NM_001005242.3(PKP2):c.726G>A (p.Thr242=)
|
rs866886453
|
0.00001
|
|
NM_001005242.3(PKP2):c.746G>A (p.Ser249Asn)
|
rs1085307949
|
0.00001
|
|
NM_001005242.3(PKP2):c.748C>T (p.Arg250Cys)
|
rs577631447
|
0.00001
|
|
NM_001005242.3(PKP2):c.784C>A (p.Leu262Met)
|
rs199701968
|
0.00001
|
|
NM_001005242.3(PKP2):c.788C>T (p.Thr263Met)
|
rs543758984
|
0.00001
|
|
NM_001005242.3(PKP2):c.830T>C (p.Leu277Pro)
|
rs772827289
|
0.00001
|
|
NM_001005242.3(PKP2):c.837C>T (p.Pro279=)
|
rs572938229
|
0.00001
|
|
NM_001005242.3(PKP2):c.837_838del (p.Val280fs)
|
rs772220644
|
0.00001
|
|
NM_001005242.3(PKP2):c.838G>A (p.Val280Ile)
|
rs748148237
|
0.00001
|
|
NM_001005242.3(PKP2):c.854C>T (p.Ala285Val)
|
rs372664096
|
0.00001
|
|
NM_001005242.3(PKP2):c.878G>C (p.Ser293Thr)
|
rs1323074715
|
0.00001
|
|
NM_001005242.3(PKP2):c.8C>T (p.Ala3Val)
|
rs1033569962
|
0.00001
|
|
NM_001005242.3(PKP2):c.903G>A (p.Leu301=)
|
rs934225556
|
0.00001
|
|
NM_001005242.3(PKP2):c.909A>G (p.Glu303=)
|
rs376001513
|
0.00001
|
|
NM_001005242.3(PKP2):c.914G>A (p.Gly305Glu)
|
rs146683466
|
0.00001
|
|
NM_001005242.3(PKP2):c.915G>A (p.Gly305=)
|
rs1274553859
|
0.00001
|
|
NM_001005242.3(PKP2):c.921T>C (p.Ser307=)
|
rs941328238
|
0.00001
|
|
NM_001005242.3(PKP2):c.925G>A (p.Ala309Thr)
|
rs761677945
|
0.00001
|
|
NM_001005242.3(PKP2):c.931G>C (p.Asp311His)
|
rs1956947554
|
0.00001
|
|
NM_001005242.3(PKP2):c.934T>G (p.Ser312Ala)
|
rs756604557
|
0.00001
|
|
NM_001005242.3(PKP2):c.941G>A (p.Gly314Glu)
|
rs139903989
|
0.00001
|
|
NM_001005242.3(PKP2):c.958A>G (p.Thr320Ala)
|
rs879225885
|
0.00001
|
|
NM_001005242.3(PKP2):c.975C>T (p.Ala325=)
|
rs369921166
|
0.00001
|
|
NM_001005242.3(PKP2):c.994C>T (p.Leu332=)
|
rs1956945387
|
0.00001
|
|
NM_001035.3(RYR2):c.*1131A>G
|
rs1023948327
|
0.00001
|
|
NM_001035.3(RYR2):c.*1268G>A
|
rs1231042485
|
0.00001
|
|
NM_001035.3(RYR2):c.*299C>G
|
rs886046288
|
0.00001
|
|
NM_001035.3(RYR2):c.*988C>T
|
rs898651416
|
0.00001
|
|
NM_001035.3(RYR2):c.-15A>G
|
rs772056240
|
0.00001
|
|
NM_001035.3(RYR2):c.10002G>A (p.Val3334=)
|
rs1265756833
|
0.00001
|
|
NM_001035.3(RYR2):c.10008G>A (p.Glu3336=)
|
rs753175584
|
0.00001
|
|
NM_001035.3(RYR2):c.10033del (p.Arg3345fs)
|
rs1060503778
|
0.00001
|
|
NM_001035.3(RYR2):c.10037G>A (p.Gly3346Glu)
|
rs1688603399
|
0.00001
|
|
NM_001035.3(RYR2):c.10047G>A (p.Ser3349=)
|
rs144428932
|
0.00001
|
|
NM_001035.3(RYR2):c.1006-6C>T
|
rs1010185386
|
0.00001
|
|
NM_001035.3(RYR2):c.10079C>T (p.Thr3360Ile)
|
rs924056885
|
0.00001
|
|
NM_001035.3(RYR2):c.10087G>C (p.Ala3363Pro)
|
rs374584820
|
0.00001
|
|
NM_001035.3(RYR2):c.10096C>T (p.Leu3366Phe)
|
rs377712921
|
0.00001
|
|
NM_001035.3(RYR2):c.10119G>A (p.Leu3373=)
|
rs1363597090
|
0.00001
|
|
NM_001035.3(RYR2):c.10125A>G (p.Arg3375=)
|
rs764396074
|
0.00001
|
|
NM_001035.3(RYR2):c.10142+3A>G
|
rs936725908
|
0.00001
|
|
NM_001035.3(RYR2):c.10142+4T>C
|
rs397516496
|
0.00001
|
|
NM_001035.3(RYR2):c.10142+6A>T
|
rs766051753
|
0.00001
|
|
NM_001035.3(RYR2):c.10143-10T>C
|
rs1300930938
|
0.00001
|
|
NM_001035.3(RYR2):c.10155A>G (p.Leu3385=)
|
rs543120030
|
0.00001
|
|
NM_001035.3(RYR2):c.10161G>A (p.Glu3387=)
|
rs1391492847
|
0.00001
|
|
NM_001035.3(RYR2):c.10174G>A (p.Ala3392Thr)
|
rs1325112585
|
0.00001
|
|
NM_001035.3(RYR2):c.10189C>T (p.Arg3397Cys)
|
rs764084155
|
0.00001
|
|
NM_001035.3(RYR2):c.10191C>A (p.Arg3397=)
|
rs1029985619
|
0.00001
|
|
NM_001035.3(RYR2):c.10200T>C (p.Ala3400=)
|
rs779316628
|
0.00001
|
|
NM_001035.3(RYR2):c.10220C>T (p.Ser3407Leu)
|
rs780287361
|
0.00001
|
|
NM_001035.3(RYR2):c.10230+15A>G
|
rs770179743
|
0.00001
|
|
NM_001035.3(RYR2):c.10230T>C (p.His3410=)
|
rs370078129
|
0.00001
|
|
NM_001035.3(RYR2):c.10247A>C (p.Glu3416Ala)
|
rs1409897706
|
0.00001
|
|
NM_001035.3(RYR2):c.10257C>T (p.Phe3419=)
|
rs748715725
|
0.00001
|
|
NM_001035.3(RYR2):c.10266G>C (p.Gln3422His)
|
rs368064371
|
0.00001
|
|
NM_001035.3(RYR2):c.10323+19T>A
|
rs765263725
|
0.00001
|
|
NM_001035.3(RYR2):c.10324-13C>G
|
rs1188052509
|
0.00001
|
|
NM_001035.3(RYR2):c.10361G>A (p.Arg3454His)
|
rs1229045575
|
0.00001
|
|
NM_001035.3(RYR2):c.10370A>C (p.Asp3457Ala)
|
rs544496844
|
0.00001
|
|
NM_001035.3(RYR2):c.10389C>T (p.Thr3463=)
|
rs878854151
|
0.00001
|
|
NM_001035.3(RYR2):c.1038A>G (p.Val346=)
|
rs796573345
|
0.00001
|
|
NM_001035.3(RYR2):c.1043G>A (p.Gly348Asp)
|
rs747138259
|
0.00001
|
|
NM_001035.3(RYR2):c.10524A>T (p.Ile3508=)
|
rs770094996
|
0.00001
|
|
NM_001035.3(RYR2):c.10529G>A (p.Arg3510His)
|
rs375947003
|
0.00001
|
|
NM_001035.3(RYR2):c.10529G>T (p.Arg3510Leu)
|
rs375947003
|
0.00001
|
|
NM_001035.3(RYR2):c.10551C>A (p.Gly3517=)
|
rs768797598
|
0.00001
|
|
NM_001035.3(RYR2):c.10555-10T>C
|
rs540655909
|
0.00001
|
|
NM_001035.3(RYR2):c.10555-4G>A
|
rs1309517155
|
0.00001
|
|
NM_001035.3(RYR2):c.10581A>G (p.Gln3527=)
|
rs760635634
|
0.00001
|
|
NM_001035.3(RYR2):c.10612A>C (p.Thr3538Pro)
|
rs894881755
|
0.00001
|
|
NM_001035.3(RYR2):c.10615G>A (p.Asp3539Asn)
|
rs766991919
|
0.00001
|
|
NM_001035.3(RYR2):c.10622C>A (p.Thr3541Asn)
|
rs1169415432
|
0.00001
|
|
NM_001035.3(RYR2):c.10637A>G (p.Lys3546Arg)
|
rs1011095512
|
0.00001
|
|
NM_001035.3(RYR2):c.10662A>T (p.Ile3554=)
|
rs1558290857
|
0.00001
|
|
NM_001035.3(RYR2):c.10681C>G (p.Leu3561Val)
|
rs1022428392
|
0.00001
|
|
NM_001035.3(RYR2):c.10725+17A>G
|
rs562857494
|
0.00001
|
|
NM_001035.3(RYR2):c.10767A>G (p.Lys3589=)
|
rs1176468756
|
0.00001
|
|
NM_001035.3(RYR2):c.1077A>G (p.Ser359=)
|
rs727505317
|
0.00001
|
|
NM_001035.3(RYR2):c.10816G>A (p.Ala3606Thr)
|
rs772511386
|
0.00001
|
|
NM_001035.3(RYR2):c.10826A>G (p.Tyr3609Cys)
|
rs747372037
|
0.00001
|
|
NM_001035.3(RYR2):c.10844G>A (p.Arg3615Gln)
|
rs879255349
|
0.00001
|
|
NM_001035.3(RYR2):c.1085A>G (p.Tyr362Cys)
|
rs1287712794
|
0.00001
|
|
NM_001035.3(RYR2):c.10873G>A (p.Glu3625Lys)
|
rs1225994973
|
0.00001
|
|
NM_001035.3(RYR2):c.10897G>A (p.Glu3633Lys)
|
rs748501600
|
0.00001
|
|
NM_001035.3(RYR2):c.10956A>G (p.Pro3652=)
|
rs765137450
|
0.00001
|
|
NM_001035.3(RYR2):c.10970G>A (p.Gly3657Asp)
|
rs876661020
|
0.00001
|
|
NM_001035.3(RYR2):c.10973C>G (p.Thr3658Ser)
|
rs766499417
|
0.00001
|
|
NM_001035.3(RYR2):c.10975A>G (p.Lys3659Glu)
|
rs184527312
|
0.00001
|
|
NM_001035.3(RYR2):c.10982T>C (p.Val3661Ala)
|
rs1163500187
|
0.00001
|
|
NM_001035.3(RYR2):c.10987C>T (p.Pro3663Ser)
|
rs1299197961
|
0.00001
|
|
NM_001035.3(RYR2):c.11036A>G (p.Lys3679Arg)
|
rs758125356
|
0.00001
|
|
NM_001035.3(RYR2):c.11039+13G>T
|
rs727504882
|
0.00001
|
|
NM_001035.3(RYR2):c.11040-3C>T
|
rs876657984
|
0.00001
|
|
NM_001035.3(RYR2):c.11040-6C>T
|
rs764492350
|
0.00001
|
|
NM_001035.3(RYR2):c.11040-8T>C
|
rs1346619924
|
0.00001
|
|
NM_001035.3(RYR2):c.11055T>C (p.Asp3685=)
|
rs368014495
|
0.00001
|
|
NM_001035.3(RYR2):c.11065A>G (p.Met3689Val)
|
rs1215940793
|
0.00001
|
|
NM_001035.3(RYR2):c.11111A>G (p.Asp3704Gly)
|
rs1334028810
|
0.00001
|
|
NM_001035.3(RYR2):c.11112T>C (p.Asp3704=)
|
rs779013786
|
0.00001
|
|
NM_001035.3(RYR2):c.11118T>C (p.Asp3706=)
|
rs1691685791
|
0.00001
|
|
NM_001035.3(RYR2):c.11131G>A (p.Val3711Met)
|
rs1307926430
|
0.00001
|
|
NM_001035.3(RYR2):c.11146-6G>A
|
rs886046277
|
0.00001
|
|
NM_001035.3(RYR2):c.11158G>C (p.Glu3720Gln)
|
rs770241781
|
0.00001
|
|
NM_001035.3(RYR2):c.1115T>A (p.Leu372His)
|
rs763658621
|
0.00001
|
|
NM_001035.3(RYR2):c.11196C>T (p.His3732=)
|
rs774786081
|
0.00001
|
|
NM_001035.3(RYR2):c.11205C>T (p.Gly3735=)
|
rs756763032
|
0.00001
|
|
NM_001035.3(RYR2):c.11207C>T (p.Ala3736Val)
|
rs1209754420
|
0.00001
|
|
NM_001035.3(RYR2):c.11229A>C (p.Thr3743=)
|
rs755203769
|
0.00001
|
|
NM_001035.3(RYR2):c.11245+14A>G
|
rs566690905
|
0.00001
|
|
NM_001035.3(RYR2):c.11250A>C (p.Glu3750Asp)
|
rs769433180
|
0.00001
|
|
NM_001035.3(RYR2):c.11252C>G (p.Thr3751Ser)
|
rs772768256
|
0.00001
|
|
NM_001035.3(RYR2):c.11266G>A (p.Ala3756Thr)
|
rs942942966
|
0.00001
|
|
NM_001035.3(RYR2):c.11307G>A (p.Gly3769=)
|
rs1253833653
|
0.00001
|
|
NM_001035.3(RYR2):c.11326-4A>G
|
rs727504876
|
0.00001
|
|
NM_001035.3(RYR2):c.11385C>G (p.Gly3795=)
|
rs919989129
|
0.00001
|
|
NM_001035.3(RYR2):c.11402+6G>A
|
rs374183234
|
0.00001
|
|
NM_001035.3(RYR2):c.11428C>T (p.Arg3810Ter)
|
rs1446308525
|
0.00001
|
|
NM_001035.3(RYR2):c.11477-14T>C
|
rs1219270773
|
0.00001
|
|
NM_001035.3(RYR2):c.11477-20T>A
|
rs1347306061
|
0.00001
|
|
NM_001035.3(RYR2):c.11480A>C (p.Glu3827Ala)
|
rs1446930267
|
0.00001
|
|
NM_001035.3(RYR2):c.11484G>T (p.Lys3828Asn)
|
rs1200279072
|
0.00001
|
|
NM_001035.3(RYR2):c.11485G>A (p.Val3829Ile)
|
rs886524806
|
0.00001
|
|
NM_001035.3(RYR2):c.11552A>G (p.Asn3851Ser)
|
rs967116157
|
0.00001
|
|
NM_001035.3(RYR2):c.11558-10T>A
|
rs1060500167
|
0.00001
|
|
NM_001035.3(RYR2):c.11558-15T>C
|
rs753142009
|
0.00001
|
|
NM_001035.3(RYR2):c.11592T>C (p.Asn3864=)
|
rs1335514890
|
0.00001
|
|
NM_001035.3(RYR2):c.1159A>C (p.Ile387Leu)
|
rs748169418
|
0.00001
|
|
NM_001035.3(RYR2):c.11601T>C (p.Thr3867=)
|
rs1226933021
|
0.00001
|
|
NM_001035.3(RYR2):c.11608A>G (p.Ile3870Val)
|
rs1333353951
|
0.00001
|
|
NM_001035.3(RYR2):c.11622T>G (p.Thr3874=)
|
rs1258139963
|
0.00001
|
|
NM_001035.3(RYR2):c.11634A>G (p.Leu3878=)
|
rs587781143
|
0.00001
|
|
NM_001035.3(RYR2):c.1163A>G (p.Gln388Arg)
|
rs397516506
|
0.00001
|
|
NM_001035.3(RYR2):c.11647-18A>G
|
rs772991575
|
0.00001
|
|
NM_001035.3(RYR2):c.11647-5C>T
|
rs1470967404
|
0.00001
|
|
NM_001035.3(RYR2):c.11672A>T (p.Tyr3891Phe)
|
rs1430332496
|
0.00001
|
|
NM_001035.3(RYR2):c.1170+10T>C
|
rs760377600
|
0.00001
|
|
NM_001035.3(RYR2):c.1174A>G (p.Ile392Val)
|
rs574563209
|
0.00001
|
|
NM_001035.3(RYR2):c.11775+6C>A
|
rs758183625
|
0.00001
|
|
NM_001035.3(RYR2):c.11776-6C>T
|
rs761155489
|
0.00001
|
|
NM_001035.3(RYR2):c.11839T>C (p.Phe3947Leu)
|
rs1490290877
|
0.00001
|
|
NM_001035.3(RYR2):c.11859T>C (p.His3953=)
|
rs751268867
|
0.00001
|
|
NM_001035.3(RYR2):c.11894T>C (p.Ile3965Thr)
|
rs1272734214
|
0.00001
|
|
NM_001035.3(RYR2):c.11922G>A (p.Leu3974=)
|
rs769084479
|
0.00001
|
|
NM_001035.3(RYR2):c.11958A>G (p.Leu3986=)
|
rs762362078
|
0.00001
|
|
NM_001035.3(RYR2):c.11962+17C>G
|
rs770285624
|
0.00001
|
|
NM_001035.3(RYR2):c.11963-9T>C
|
rs113583794
|
0.00001
|
|
NM_001035.3(RYR2):c.11968G>A (p.Val3990Ile)
|
rs1210103464
|
0.00001
|
|
NM_001035.3(RYR2):c.11998G>A (p.Val4000Met)
|
rs773760019
|
0.00001
|
|
NM_001035.3(RYR2):c.12023A>G (p.Asn4008Ser)
|
rs1330847491
|
0.00001
|
|
NM_001035.3(RYR2):c.12057G>A (p.Met4019Ile)
|
rs763668006
|
0.00001
|
|
NM_001035.3(RYR2):c.12083C>T (p.Ser4028Leu)
|
rs779666612
|
0.00001
|
|
NM_001035.3(RYR2):c.12152C>T (p.Ala4051Val)
|
rs1326672128
|
0.00001
|
|
NM_001035.3(RYR2):c.12153G>A (p.Ala4051=)
|
rs768288201
|
0.00001
|
|
NM_001035.3(RYR2):c.12167A>G (p.Lys4056Arg)
|
rs762743022
|
0.00001
|
|
NM_001035.3(RYR2):c.12168G>A (p.Lys4056=)
|
rs1573932788
|
0.00001
|
|
NM_001035.3(RYR2):c.12174C>T (p.Tyr4058=)
|
rs766262728
|
0.00001
|
|
NM_001035.3(RYR2):c.12192A>C (p.Glu4064Asp)
|
rs1172947190
|
0.00001
|
|
NM_001035.3(RYR2):c.12198T>G (p.Leu4066=)
|
rs767815859
|
0.00001
|
|
NM_001035.3(RYR2):c.12210G>A (p.Ala4070=)
|
rs757703714
|
0.00001
|
|
NM_001035.3(RYR2):c.12234C>T (p.Leu4078=)
|
rs769308688
|
0.00001
|
|
NM_001035.3(RYR2):c.12244G>A (p.Glu4082Lys)
|
rs774241742
|
0.00001
|
|
NM_001035.3(RYR2):c.12283G>A (p.Gly4095Ser)
|
rs753850982
|
0.00001
|
|
NM_001035.3(RYR2):c.12292G>A (p.Val4098Ile)
|
rs1047248475
|
0.00001
|
|
NM_001035.3(RYR2):c.12297C>T (p.Ala4099=)
|
rs369971378
|
0.00001
|
|
NM_001035.3(RYR2):c.12298G>A (p.Val4100Ile)
|
rs758785338
|
0.00001
|
|
NM_001035.3(RYR2):c.12315C>T (p.Leu4105=)
|
rs184625125
|
0.00001
|
|
NM_001035.3(RYR2):c.12333C>T (p.Asn4111=)
|
rs748716535
|
0.00001
|
|
NM_001035.3(RYR2):c.12334G>A (p.Asp4112Asn)
|
rs1695348814
|
0.00001
|
|
NM_001035.3(RYR2):c.12336T>C (p.Asp4112=)
|
rs770434178
|
0.00001
|
|
NM_001035.3(RYR2):c.12366A>G (p.Ala4122=)
|
rs373185648
|
0.00001
|
|
NM_001035.3(RYR2):c.12387C>T (p.Phe4129=)
|
rs1238580758
|
0.00001
|
|
NM_001035.3(RYR2):c.12397C>T (p.Leu4133=)
|
rs1553322794
|
0.00001
|
|
NM_001035.3(RYR2):c.12403C>T (p.Arg4135Cys)
|
rs761039434
|
0.00001
|
|
NM_001035.3(RYR2):c.12404G>A (p.Arg4135His)
|
rs764202302
|
0.00001
|
|
NM_001035.3(RYR2):c.1240C>T (p.Arg414Cys)
|
rs764698152
|
0.00001
|
|
NM_001035.3(RYR2):c.12435C>T (p.Ile4145=)
|
rs954641240
|
0.00001
|
|
NM_001035.3(RYR2):c.12471A>G (p.Arg4157=)
|
rs751897207
|
0.00001
|
|
NM_001035.3(RYR2):c.12489C>T (p.Pro4163=)
|
rs777321777
|
0.00001
|
|
NM_001035.3(RYR2):c.12497A>G (p.Lys4166Arg)
|
rs1450189858
|
0.00001
|
|
NM_001035.3(RYR2):c.1250G>A (p.Arg417Gln)
|
rs751428303
|
0.00001
|
|
NM_001035.3(RYR2):c.12557T>C (p.Met4186Thr)
|
rs1224160104
|
0.00001
|
|
NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp)
|
rs190140598
|
0.00001
|
|
NM_001035.3(RYR2):c.12621G>A (p.Ser4207=)
|
rs969138992
|
0.00001
|
|
NM_001035.3(RYR2):c.12627G>A (p.Ser4209=)
|
rs3753631
|
0.00001
|
|
NM_001035.3(RYR2):c.12638A>G (p.Glu4213Gly)
|
rs1178157004
|
0.00001
|
|
NM_001035.3(RYR2):c.12639G>C (p.Glu4213Asp)
|
rs1695374375
|
0.00001
|
|
NM_001035.3(RYR2):c.12660A>C (p.Glu4220Asp)
|
rs1323430299
|
0.00001
|
|
NM_001035.3(RYR2):c.12692C>T (p.Pro4231Leu)
|
rs1321340277
|
0.00001
|
|
NM_001035.3(RYR2):c.12693G>A (p.Pro4231=)
|
rs748387463
|
0.00001
|
|
NM_001035.3(RYR2):c.12700G>A (p.Ala4234Thr)
|
rs773317989
|
0.00001
|
|
NM_001035.3(RYR2):c.12715C>T (p.Leu4239=)
|
rs766396305
|
0.00001
|
|
NM_001035.3(RYR2):c.12720G>C (p.Thr4240=)
|
rs774851947
|
0.00001
|
|
NM_001035.3(RYR2):c.12752A>G (p.Asn4251Ser)
|
rs750064223
|
0.00001
|
|
NM_001035.3(RYR2):c.12767T>C (p.Met4256Thr)
|
rs530277653
|
0.00001
|
|
NM_001035.3(RYR2):c.12770G>A (p.Arg4257Gln)
|
rs371396204
|
0.00001
|
|
NM_001035.3(RYR2):c.12820A>T (p.Met4274Leu)
|
rs1304617213
|
0.00001
|
|
NM_001035.3(RYR2):c.12826G>A (p.Val4276Met)
|
rs368599791
|
0.00001
|
|
NM_001035.3(RYR2):c.1284A>T (p.Arg428Ser)
|
rs777771262
|
0.00001
|
|
NM_001035.3(RYR2):c.12860A>G (p.Tyr4287Cys)
|
rs1422123208
|
0.00001
|
|
NM_001035.3(RYR2):c.12887A>C (p.His4296Pro)
|
rs1695398009
|
0.00001
|
|
NM_001035.3(RYR2):c.12906C>T (p.Phe4302=)
|
rs1265667422
|
0.00001
|
|
NM_001035.3(RYR2):c.12912C>G (p.Gly4304=)
|
rs1245462519
|
0.00001
|
|
NM_001035.3(RYR2):c.12913T>C (p.Phe4305Leu)
|
rs1477602829
|
0.00001
|
|
NM_001035.3(RYR2):c.12920G>A (p.Arg4307His)
|
rs769146715
|
0.00001
|
|
NM_001035.3(RYR2):c.12927T>A (p.Ile4309=)
|
rs777132279
|
0.00001
|
|
NM_001035.3(RYR2):c.1293-7A>G
|
rs1185030643
|
0.00001
|
|
NM_001035.3(RYR2):c.12960A>G (p.Glu4320=)
|
rs1456795811
|
0.00001
|
|
NM_001035.3(RYR2):c.12991T>C (p.Leu4331=)
|
rs1327823442
|
0.00001
|
|
NM_001035.3(RYR2):c.12994G>A (p.Ala4332Thr)
|
rs1695407325
|
0.00001
|
|
NM_001035.3(RYR2):c.13061T>G (p.Leu4354Arg)
|
rs1361307283
|
0.00001
|
|
NM_001035.3(RYR2):c.13068C>T (p.Ala4356=)
|
rs779932052
|
0.00001
|
|
NM_001035.3(RYR2):c.13079C>T (p.Ser4360Phe)
|
rs982384666
|
0.00001
|
|
NM_001035.3(RYR2):c.13081G>A (p.Glu4361Lys)
|
rs794728795
|
0.00001
|
|
NM_001035.3(RYR2):c.13088T>C (p.Leu4363Pro)
|
rs762239413
|
0.00001
|
|
NM_001035.3(RYR2):c.13093G>A (p.Asp4365Asn)
|
rs372880584
|
0.00001
|
|
NM_001035.3(RYR2):c.13103A>G (p.Glu4368Gly)
|
rs1483523927
|
0.00001
|
|
NM_001035.3(RYR2):c.13198G>T (p.Ala4400Ser)
|
rs750662333
|
0.00001
|
|
NM_001035.3(RYR2):c.1320G>A (p.Ala440=)
|
rs887478410
|
0.00001
|
|
NM_001035.3(RYR2):c.13212C>T (p.Asp4404=)
|
rs758548582
|
0.00001
|
|
NM_001035.3(RYR2):c.13216A>T (p.Met4406Leu)
|
rs1328615953
|
0.00001
|
|
NM_001035.3(RYR2):c.13220G>A (p.Ser4407Asn)
|
rs755585430
|
0.00001
|
|
NM_001035.3(RYR2):c.13252A>G (p.Lys4418Glu)
|
rs1029442866
|
0.00001
|
|
NM_001035.3(RYR2):c.13261-11A>T
|
rs1391876423
|
0.00001
|
|
NM_001035.3(RYR2):c.13283A>G (p.Glu4428Gly)
|
rs1254605642
|
0.00001
|
|
NM_001035.3(RYR2):c.13301A>C (p.Glu4434Ala)
|
rs771286329
|
0.00001
|
|
NM_001035.3(RYR2):c.13326C>T (p.Ala4442=)
|
rs768161152
|
0.00001
|
|
NM_001035.3(RYR2):c.13329-10G>C
|
rs754319442
|
0.00001
|
|
NM_001035.3(RYR2):c.13329-15T>C
|
rs1188175665
|
0.00001
|
|
NM_001035.3(RYR2):c.13351G>A (p.Glu4451Lys)
|
rs780734342
|
0.00001
|
|
NM_001035.3(RYR2):c.1335C>T (p.Val445=)
|
rs573201028
|
0.00001
|
|
NM_001035.3(RYR2):c.13370A>G (p.Lys4457Arg)
|
rs747584325
|
0.00001
|
|
NM_001035.3(RYR2):c.13379A>G (p.Gln4460Arg)
|
rs762879895
|
0.00001
|
|
NM_001035.3(RYR2):c.13399A>G (p.Thr4467Ala)
|
rs774270919
|
0.00001
|
|
NM_001035.3(RYR2):c.13405A>G (p.Arg4469Gly)
|
rs367809296
|
0.00001
|
|
NM_001035.3(RYR2):c.13410C>T (p.Tyr4470=)
|
rs183933829
|
0.00001
|
|
NM_001035.3(RYR2):c.13423G>A (p.Val4475Met)
|
rs1275899087
|
0.00001
|
|
NM_001035.3(RYR2):c.13425G>T (p.Val4475=)
|
rs760691911
|
0.00001
|
|
NM_001035.3(RYR2):c.13449A>G (p.Lys4483=)
|
rs1008224442
|
0.00001
|
|
NM_001035.3(RYR2):c.13457C>G (p.Ala4486Gly)
|
rs779309213
|
0.00001
|
|
NM_001035.3(RYR2):c.1345A>G (p.Ile449Val)
|
rs775428443
|
0.00001
|
|
NM_001035.3(RYR2):c.1346T>G (p.Ile449Arg)
|
rs373331669
|
0.00001
|
|
NM_001035.3(RYR2):c.13476+6A>G
|
rs1457866950
|
0.00001
|
|
NM_001035.3(RYR2):c.13477-9C>T
|
rs1351628892
|
0.00001
|
|
NM_001035.3(RYR2):c.13482T>C (p.Tyr4494=)
|
rs886046279
|
0.00001
|
|
NM_001035.3(RYR2):c.13504A>C (p.Met4502Leu)
|
rs876657985
|
0.00001
|
|
NM_001035.3(RYR2):c.13526T>C (p.Val4509Ala)
|
rs1209033509
|
0.00001
|
|
NM_001035.3(RYR2):c.1353C>T (p.Ser451=)
|
rs764245031
|
0.00001
|
|
NM_001035.3(RYR2):c.13564-18T>A
|
rs776614513
|
0.00001
|
|
NM_001035.3(RYR2):c.13604C>T (p.Thr4535Met)
|
rs756839134
|
0.00001
|
|
NM_001035.3(RYR2):c.13615A>C (p.Ser4539Arg)
|
rs778498741
|
0.00001
|
|
NM_001035.3(RYR2):c.13623T>C (p.Asn4541=)
|
rs1389335931
|
0.00001
|
|
NM_001035.3(RYR2):c.13624G>A (p.Ala4542Thr)
|
rs1296705206
|
0.00001
|
|
NM_001035.3(RYR2):c.13647C>T (p.Ser4549=)
|
rs1166610736
|
0.00001
|
|
NM_001035.3(RYR2):c.13655A>G (p.His4552Arg)
|
rs768299786
|
0.00001
|
|
NM_001035.3(RYR2):c.13656T>C (p.His4552=)
|
rs397516512
|
0.00001
|
|
NM_001035.3(RYR2):c.13661T>C (p.Ile4554Thr)
|
rs1234650666
|
0.00001
|
|
NM_001035.3(RYR2):c.13665C>T (p.Ile4555=)
|
rs375213838
|
0.00001
|
|
NM_001035.3(RYR2):c.13681C>T (p.Leu4561=)
|
rs372599604
|
0.00001
|
|
NM_001035.3(RYR2):c.13696G>A (p.Gly4566Ser)
|
rs767716570
|
0.00001
|
|
NM_001035.3(RYR2):c.13734G>A (p.Leu4578=)
|
rs1268914442
|
0.00001
|
|
NM_001035.3(RYR2):c.13743C>G (p.Val4581=)
|
rs377670364
|
0.00001
|
|
NM_001035.3(RYR2):c.13783-4G>A
|
rs1364773484
|
0.00001
|
|
NM_001035.3(RYR2):c.13788A>T (p.Pro4596=)
|
rs368675632
|
0.00001
|
|
NM_001035.3(RYR2):c.13806A>G (p.Arg4602=)
|
rs1230311017
|
0.00001
|
|
NM_001035.3(RYR2):c.13900G>A (p.Val4634Ile)
|
rs756310498
|
0.00001
|
|
NM_001035.3(RYR2):c.13902A>C (p.Val4634=)
|
rs1449876826
|
0.00001
|
|
NM_001035.3(RYR2):c.1392C>A (p.His464Gln)
|
rs749032742
|
0.00001
|
|
NM_001035.3(RYR2):c.13957-10A>G
|
rs780730833
|
0.00001
|
|
NM_001035.3(RYR2):c.13976A>G (p.Glu4659Gly)
|
rs749030677
|
0.00001
|
|
NM_001035.3(RYR2):c.1397C>A (p.Pro466Gln)
|
rs967199869
|
0.00001
|
|
NM_001035.3(RYR2):c.13984G>A (p.Gly4662Ser)
|
rs886039213
|
0.00001
|
|
NM_001035.3(RYR2):c.14024C>A (p.Ala4675Glu)
|
rs1172831046
|
0.00001
|
|
NM_001035.3(RYR2):c.1403A>G (p.Glu468Gly)
|
rs1282053556
|
0.00001
|
|
NM_001035.3(RYR2):c.14040T>C (p.Ser4680=)
|
rs938907868
|
0.00001
|
|
NM_001035.3(RYR2):c.14041G>A (p.Asp4681Asn)
|
rs1478475074
|
0.00001
|
|
NM_001035.3(RYR2):c.14055G>A (p.Lys4685=)
|
rs765409439
|
0.00001
|
|
NM_001035.3(RYR2):c.1405C>T (p.His469Tyr)
|
rs776288769
|
0.00001
|
|
NM_001035.3(RYR2):c.14066A>G (p.Lys4689Arg)
|
rs1085307711
|
0.00001
|
|
NM_001035.3(RYR2):c.14085A>C (p.Ser4695=)
|
rs758566439
|
0.00001
|
|
NM_001035.3(RYR2):c.14090+15G>A
|
rs375767595
|
0.00001
|
|
NM_001035.3(RYR2):c.14098T>G (p.Ser4700Ala)
|
rs766629125
|
0.00001
|
|
NM_001035.3(RYR2):c.14151+1G>A
|
rs745576995
|
0.00001
|
|
NM_001035.3(RYR2):c.14151C>T (p.Asn4717=)
|
rs1479892874
|
0.00001
|
|
NM_001035.3(RYR2):c.14152-3T>C
|
rs376797615
|
0.00001
|
|
NM_001035.3(RYR2):c.1423A>C (p.Lys475Gln)
|
rs765389300
|
0.00001
|
|
NM_001035.3(RYR2):c.1424A>G (p.Lys475Arg)
|
rs750510651
|
0.00001
|
|
NM_001035.3(RYR2):c.14301C>T (p.Leu4767=)
|
rs369715118
|
0.00001
|
|
NM_001035.3(RYR2):c.14302G>A (p.Val4768Ile)
|
rs775534249
|
0.00001
|
|
NM_001035.3(RYR2):c.14344A>G (p.Thr4782Ala)
|
rs762305687
|
0.00001
|
|
NM_001035.3(RYR2):c.14369G>A (p.Arg4790Gln)
|
rs750780758
|
0.00001
|
|
NM_001035.3(RYR2):c.14415A>G (p.Lys4805=)
|
rs397516515
|
0.00001
|
|
NM_001035.3(RYR2):c.14422G>A (p.Asp4808Asn)
|
rs777414943
|
0.00001
|
|
NM_001035.3(RYR2):c.14433+10T>A
|
rs1174588915
|
0.00001
|
|
NM_001035.3(RYR2):c.1444C>T (p.Leu482=)
|
rs117903753
|
0.00001
|
|
NM_001035.3(RYR2):c.14502A>G (p.Pro4834=)
|
rs368463791
|
0.00001
|
|
NM_001035.3(RYR2):c.14590+11T>C
|
rs750269889
|
0.00001
|
|
NM_001035.3(RYR2):c.14591-4C>T
|
rs1298987321
|
0.00001
|
|
NM_001035.3(RYR2):c.14625C>T (p.Asp4875=)
|
rs1184589246
|
0.00001
|
|
NM_001035.3(RYR2):c.14757-14C>A
|
rs1574129539
|
0.00001
|
|
NM_001035.3(RYR2):c.1476+5G>A
|
rs778668388
|
0.00001
|
|
NM_001035.3(RYR2):c.14781C>T (p.Asn4927=)
|
rs559218380
|
0.00001
|
|
NM_001035.3(RYR2):c.14808+12A>C
|
rs886046281
|
0.00001
|
|
NM_001035.3(RYR2):c.14811A>G (p.Glu4937=)
|
rs1282956982
|
0.00001
|
|
NM_001035.3(RYR2):c.14841G>T (p.Arg4947Ser)
|
rs1252294768
|
0.00001
|
|
NM_001035.3(RYR2):c.14850A>G (p.Glu4950=)
|
rs947052066
|
0.00001
|
|
NM_001035.3(RYR2):c.14869T>A (p.Cys4957Ser)
|
rs758500988
|
0.00001
|
|
NM_001035.3(RYR2):c.14884T>A (p.Tyr4962Asn)
|
rs748937501
|
0.00001
|
|
NM_001035.3(RYR2):c.1492G>A (p.Val498Met)
|
rs760100468
|
0.00001
|
|
NM_001035.3(RYR2):c.1504A>G (p.Ile502Val)
|
rs1309242606
|
0.00001
|
|
NM_001035.3(RYR2):c.1509C>A (p.Asp503Glu)
|
rs764532025
|
0.00001
|
|
NM_001035.3(RYR2):c.1517A>T (p.His506Leu)
|
rs1476195040
|
0.00001
|
|
NM_001035.3(RYR2):c.1526G>A (p.Ser509Asn)
|
rs1558850631
|
0.00001
|
|
NM_001035.3(RYR2):c.1537C>G (p.His513Asp)
|
rs1230792928
|
0.00001
|
|
NM_001035.3(RYR2):c.1559G>A (p.Arg520Gln)
|
rs564957172
|
0.00001
|
|
NM_001035.3(RYR2):c.1573T>G (p.Ser525Ala)
|
rs1207389001
|
0.00001
|
|
NM_001035.3(RYR2):c.1575T>C (p.Ser525=)
|
rs576451595
|
0.00001
|
|
NM_001035.3(RYR2):c.1612+7A>C
|
rs371061260
|
0.00001
|
|
NM_001035.3(RYR2):c.1698A>C (p.Glu566Asp)
|
rs1397154786
|
0.00001
|
|
NM_001035.3(RYR2):c.1699G>C (p.Ala567Pro)
|
rs753758467
|
0.00001
|
|
NM_001035.3(RYR2):c.171T>C (p.Asn57=)
|
rs1355336223
|
0.00001
|
|
NM_001035.3(RYR2):c.1775G>A (p.Gly592Glu)
|
rs794728724
|
0.00001
|
|
NM_001035.3(RYR2):c.177C>T (p.Pro59=)
|
rs1274699222
|
0.00001
|
|
NM_001035.3(RYR2):c.1843T>G (p.Cys615Gly)
|
rs1055900110
|
0.00001
|
|
NM_001035.3(RYR2):c.1864G>A (p.Gly622Arg)
|
rs376243998
|
0.00001
|
|
NM_001035.3(RYR2):c.1903A>C (p.Asn635His)
|
rs768241033
|
0.00001
|
|
NM_001035.3(RYR2):c.1909C>A (p.Leu637Ile)
|
rs1159892117
|
0.00001
|
|
NM_001035.3(RYR2):c.1927T>A (p.Leu643Ile)
|
rs368918887
|
0.00001
|
|
NM_001035.3(RYR2):c.1951C>T (p.His651Tyr)
|
rs759839219
|
0.00001
|
|
NM_001035.3(RYR2):c.1963A>T (p.Met655Leu)
|
rs1664091653
|
0.00001
|
|
NM_001035.3(RYR2):c.1976T>G (p.Ile659Ser)
|
rs753013388
|
0.00001
|
|
NM_001035.3(RYR2):c.1987G>A (p.Val663Ile)
|
rs374277541
|
0.00001
|
|
NM_001035.3(RYR2):c.2022C>T (p.Tyr674=)
|
rs1411379557
|
0.00001
|
|
NM_001035.3(RYR2):c.2050C>A (p.Pro684Thr)
|
rs1553473182
|
0.00001
|
|
NM_001035.3(RYR2):c.2081G>A (p.Arg694Gln)
|
rs190787113
|
0.00001
|
|
NM_001035.3(RYR2):c.2101G>A (p.Glu701Lys)
|
rs748762074
|
0.00001
|
|
NM_001035.3(RYR2):c.2121T>A (p.Pro707=)
|
rs1004858931
|
0.00001
|
|
NM_001035.3(RYR2):c.2125G>T (p.Gly709Trp)
|
rs775143324
|
0.00001
|
|
NM_001035.3(RYR2):c.2131G>A (p.Glu711Lys)
|
rs1470689668
|
0.00001
|
|
NM_001035.3(RYR2):c.2146A>G (p.Asn716Asp)
|
rs1395171532
|
0.00001
|
|
NM_001035.3(RYR2):c.2174A>G (p.Tyr725Cys)
|
rs776700027
|
0.00001
|
|
NM_001035.3(RYR2):c.2175T>C (p.Tyr725=)
|
rs758813812
|
0.00001
|
|
NM_001035.3(RYR2):c.2203+3_2203+4dup
|
rs730880376
|
0.00001
|
|
NM_001035.3(RYR2):c.2204-14T>G
|
rs767973692
|
0.00001
|
|
NM_001035.3(RYR2):c.2215C>T (p.Arg739Cys)
|
rs1170501862
|
0.00001
|
|
NM_001035.3(RYR2):c.2216G>A (p.Arg739His)
|
rs955065308
|
0.00001
|
|
NM_001035.3(RYR2):c.2223A>G (p.Val741=)
|
rs117242563
|
0.00001
|
|
NM_001035.3(RYR2):c.2253T>G (p.Thr751=)
|
rs762905211
|
0.00001
|
|
NM_001035.3(RYR2):c.2260G>T (p.Val754Phe)
|
rs376923538
|
0.00001
|
|
NM_001035.3(RYR2):c.226C>T (p.Arg76Trp)
|
rs542777295
|
0.00001
|
|
NM_001035.3(RYR2):c.2275T>A (p.Leu759Ile)
|
rs768063536
|
0.00001
|
|
NM_001035.3(RYR2):c.2300C>T (p.Ser767Leu)
|
rs749979131
|
0.00001
|
|
NM_001035.3(RYR2):c.2306G>A (p.Arg769Gln)
|
rs754901791
|
0.00001
|
|
NM_001035.3(RYR2):c.2320C>A (p.Pro774Thr)
|
rs780965490
|
0.00001
|
|
NM_001035.3(RYR2):c.2323G>A (p.Val775Ile)
|
rs747893832
|
0.00001
|
|
NM_001035.3(RYR2):c.2350A>T (p.Ile784Phe)
|
rs794728729
|
0.00001
|
|
NM_001035.3(RYR2):c.2354A>G (p.Asp785Gly)
|
rs1572613741
|
0.00001
|
|
NM_001035.3(RYR2):c.2364C>A (p.Phe788Leu)
|
rs776018906
|
0.00001
|
|
NM_001035.3(RYR2):c.2373C>T (p.Val791=)
|
rs770431899
|
0.00001
|
|
NM_001035.3(RYR2):c.2379T>C (p.Ser793=)
|
rs1230175710
|
0.00001
|
|
NM_001035.3(RYR2):c.2394A>G (p.Ile798Met)
|
rs192876953
|
0.00001
|
|
NM_001035.3(RYR2):c.2402G>T (p.Arg801Leu)
|
rs371157868
|
0.00001
|
|
NM_001035.3(RYR2):c.2416G>C (p.Gly806Arg)
|
rs1227019047
|
0.00001
|
|
NM_001035.3(RYR2):c.2420G>A (p.Arg807Gln)
|
rs753611255
|
0.00001
|
|
NM_001035.3(RYR2):c.2423A>G (p.His808Arg)
|
rs757443712
|
0.00001
|
|
NM_001035.3(RYR2):c.2444C>T (p.Pro815Leu)
|
rs537596448
|
0.00001
|
|
NM_001035.3(RYR2):c.2457T>C (p.Tyr819=)
|
rs776868355
|
0.00001
|
|
NM_001035.3(RYR2):c.2484A>G (p.Pro828=)
|
rs1323860626
|
0.00001
|
|
NM_001035.3(RYR2):c.2513G>A (p.Arg838Gln)
|
rs764043352
|
0.00001
|
|
NM_001035.3(RYR2):c.2542C>T (p.Arg848Cys)
|
rs765102386
|
0.00001
|
|
NM_001035.3(RYR2):c.2543G>A (p.Arg848His)
|
rs1247047478
|
0.00001
|
|
NM_001035.3(RYR2):c.2551C>T (p.Leu851=)
|
rs1487401743
|
0.00001
|
|
NM_001035.3(RYR2):c.2562A>G (p.Thr854=)
|
rs727503398
|
0.00001
|
|
NM_001035.3(RYR2):c.256G>A (p.Val86Met)
|
rs1217618479
|
0.00001
|
|
NM_001035.3(RYR2):c.2603A>G (p.Asp868Gly)
|
rs1272250863
|
0.00001
|
|
NM_001035.3(RYR2):c.2613+16C>T
|
rs542609503
|
0.00001
|
|
NM_001035.3(RYR2):c.2614-11G>C
|
rs778125348
|
0.00001
|
|
NM_001035.3(RYR2):c.2614-12T>C
|
rs928458049
|
0.00001
|
|
NM_001035.3(RYR2):c.2616C>T (p.Ile872=)
|
rs376641425
|
0.00001
|
|
NM_001035.3(RYR2):c.2632C>T (p.Leu878=)
|
rs376834009
|
0.00001
|
|
NM_001035.3(RYR2):c.2642T>G (p.Ile881Arg)
|
rs762792701
|
0.00001
|
|
NM_001035.3(RYR2):c.2650A>G (p.Lys884Glu)
|
rs767642846
|
0.00001
|
|
NM_001035.3(RYR2):c.2663A>G (p.Asn888Ser)
|
rs1289969599
|
0.00001
|
|
NM_001035.3(RYR2):c.2698C>T (p.Leu900Phe)
|
rs754314526
|
0.00001
|
|
NM_001035.3(RYR2):c.2707C>A (p.Gln903Lys)
|
rs1458382114
|
0.00001
|
|
NM_001035.3(RYR2):c.2712T>C (p.Tyr904=)
|
rs758586059
|
0.00001
|
|
NM_001035.3(RYR2):c.2719-10C>A
|
rs898992768
|
0.00001
|
|
NM_001035.3(RYR2):c.2719-4T>A
|
rs397516523
|
0.00001
|
|
NM_001035.3(RYR2):c.274-10C>G
|
rs1699258662
|
0.00001
|
|
NM_001035.3(RYR2):c.2745C>T (p.His915=)
|
rs754398749
|
0.00001
|
|
NM_001035.3(RYR2):c.2773C>T (p.Pro925Ser)
|
rs1023177526
|
0.00001
|
|
NM_001035.3(RYR2):c.2784G>A (p.Glu928=)
|
rs1183256756
|
0.00001
|
|
NM_001035.3(RYR2):c.2786G>A (p.Arg929His)
|
rs876657988
|
0.00001
|
|
NM_001035.3(RYR2):c.2808G>A (p.Ser936=)
|
rs1057521205
|
0.00001
|
|
NM_001035.3(RYR2):c.284T>A (p.Val95Glu)
|
rs900519025
|
0.00001
|
|
NM_001035.3(RYR2):c.2863G>A (p.Glu955Lys)
|
rs745798722
|
0.00001
|
|
NM_001035.3(RYR2):c.2904G>C (p.Lys968Asn)
|
rs768807940
|
0.00001
|
|
NM_001035.3(RYR2):c.2907T>C (p.Asn969=)
|
rs763800107
|
0.00001
|
|
NM_001035.3(RYR2):c.2922T>C (p.Ser974=)
|
rs750392459
|
0.00001
|
|
NM_001035.3(RYR2):c.294+13A>C
|
rs773161376
|
0.00001
|
|
NM_001035.3(RYR2):c.2941A>G (p.Met981Val)
|
rs768893657
|
0.00001
|
|
NM_001035.3(RYR2):c.2945A>G (p.Asp982Gly)
|
rs1461569961
|
0.00001
|
|
NM_001035.3(RYR2):c.2949G>A (p.Leu983=)
|
rs926827556
|
0.00001
|
|
NM_001035.3(RYR2):c.295-8C>T
|
rs764545272
|
0.00001
|
|
NM_001035.3(RYR2):c.2960A>C (p.Lys987Thr)
|
rs1294571823
|
0.00001
|
|
NM_001035.3(RYR2):c.2969C>T (p.Pro990Leu)
|
rs912594681
|
0.00001
|
|
NM_001035.3(RYR2):c.2978A>G (p.Glu993Gly)
|
rs760019189
|
0.00001
|
|
NM_001035.3(RYR2):c.2984T>C (p.Met995Thr)
|
rs1009381849
|
0.00001
|
|
NM_001035.3(RYR2):c.3015T>C (p.Asn1005=)
|
rs758290360
|
0.00001
|
|
NM_001035.3(RYR2):c.3026G>A (p.Arg1009Gln)
|
rs754812132
|
0.00001
|
|
NM_001035.3(RYR2):c.3037C>T (p.Arg1013Trp)
|
rs777740439
|
0.00001
|
|
NM_001035.3(RYR2):c.3057C>A (p.Gly1019=)
|
rs1343531428
|
0.00001
|
|
NM_001035.3(RYR2):c.3066+11A>G
|
rs764894788
|
0.00001
|
|
NM_001035.3(RYR2):c.3067-14G>C
|
rs757471501
|
0.00001
|
|
NM_001035.3(RYR2):c.3069C>T (p.Asp1023=)
|
rs751382226
|
0.00001
|
|
NM_001035.3(RYR2):c.3070G>T (p.Val1024Leu)
|
rs1291873158
|
0.00001
|
|
NM_001035.3(RYR2):c.3089C>T (p.Pro1030Leu)
|
rs1404965456
|
0.00001
|
|
NM_001035.3(RYR2):c.309+16A>G
|
rs886038386
|
0.00001
|
|
NM_001035.3(RYR2):c.310-16T>G
|
rs1558698164
|
0.00001
|
|
NM_001035.3(RYR2):c.310-5T>G
|
rs1487803250
|
0.00001
|
|
NM_001035.3(RYR2):c.3105C>T (p.Tyr1035=)
|
rs747358776
|
0.00001
|
|
NM_001035.3(RYR2):c.3108T>C (p.Thr1036=)
|
rs1439044859
|
0.00001
|
|
NM_001035.3(RYR2):c.3142G>A (p.Asp1048Asn)
|
rs1384422533
|
0.00001
|
|
NM_001035.3(RYR2):c.3151C>T (p.Arg1051Cys)
|
rs533330664
|
0.00001
|
|
NM_001035.3(RYR2):c.3154G>A (p.Glu1052Lys)
|
rs1271333166
|
0.00001
|
|
NM_001035.3(RYR2):c.3167C>T (p.Thr1056Met)
|
rs779146564
|
0.00001
|
|
NM_001035.3(RYR2):c.3181G>A (p.Gly1061Ser)
|
rs747447414
|
0.00001
|
|
NM_001035.3(RYR2):c.3214+9G>A
|
rs377240715
|
0.00001
|
|
NM_001035.3(RYR2):c.3220A>G (p.Arg1074Gly)
|
rs1559038380
|
0.00001
|
|
NM_001035.3(RYR2):c.3226G>A (p.Glu1076Lys)
|
rs781547572
|
0.00001
|
|
NM_001035.3(RYR2):c.3238G>A (p.Gly1080Ser)
|
rs727504969
|
0.00001
|
|
NM_001035.3(RYR2):c.3240C>T (p.Gly1080=)
|
rs745511565
|
0.00001
|
|
NM_001035.3(RYR2):c.3244G>A (p.Gly1082Arg)
|
rs774797663
|
0.00001
|
|
NM_001035.3(RYR2):c.326G>C (p.Gly109Ala)
|
rs1572014527
|
0.00001
|
|
NM_001035.3(RYR2):c.3271G>A (p.Glu1091Lys)
|
rs730880191
|
0.00001
|
|
NM_001035.3(RYR2):c.3294C>T (p.Ala1098=)
|
rs773622667
|
0.00001
|
|
NM_001035.3(RYR2):c.3295G>A (p.Gly1099Arg)
|
rs767849564
|
0.00001
|
|
NM_001035.3(RYR2):c.3400G>T (p.Ala1134Ser)
|
rs886046265
|
0.00001
|
|
NM_001035.3(RYR2):c.340C>G (p.Leu114Val)
|
rs759271857
|
0.00001
|
|
NM_001035.3(RYR2):c.3417C>T (p.Gly1139=)
|
rs1368724013
|
0.00001
|
|
NM_001035.3(RYR2):c.3424-4A>G
|
rs1170393191
|
0.00001
|
|
NM_001035.3(RYR2):c.3431G>A (p.Arg1144Gln)
|
rs193125030
|
0.00001
|
|
NM_001035.3(RYR2):c.3456T>C (p.Tyr1152=)
|
rs762130498
|
0.00001
|
|
NM_001035.3(RYR2):c.3506A>G (p.Asn1169Ser)
|
rs979486756
|
0.00001
|
|
NM_001035.3(RYR2):c.3513C>T (p.His1171=)
|
rs924029503
|
0.00001
|
|
NM_001035.3(RYR2):c.3514A>T (p.Thr1172Ser)
|
rs760782284
|
0.00001
|
|
NM_001035.3(RYR2):c.3517A>G (p.Met1173Val)
|
rs762372863
|
0.00001
|
|
NM_001035.3(RYR2):c.3537T>C (p.Gly1179=)
|
rs397516526
|
0.00001
|
|
NM_001035.3(RYR2):c.3594C>T (p.Gly1198=)
|
rs185212949
|
0.00001
|
|
NM_001035.3(RYR2):c.3598+16T>G
|
rs886038387
|
0.00001
|
|
NM_001035.3(RYR2):c.3599-13T>C
|
rs1420645453
|
0.00001
|
|
NM_001035.3(RYR2):c.3610G>A (p.Val1204Met)
|
rs1435421903
|
0.00001
|
|
NM_001035.3(RYR2):c.3622G>A (p.Gly1208Arg)
|
rs770286824
|
0.00001
|
|
NM_001035.3(RYR2):c.3638G>C (p.Gly1213Ala)
|
rs766838912
|
0.00001
|
|
NM_001035.3(RYR2):c.3648C>T (p.Asn1216=)
|
rs983874662
|
0.00001
|
|
NM_001035.3(RYR2):c.365G>A (p.Arg122His)
|
rs727503396
|
0.00001
|
|
NM_001035.3(RYR2):c.3674A>C (p.Lys1225Thr)
|
rs1185398824
|
0.00001
|
|
NM_001035.3(RYR2):c.3677A>G (p.Tyr1226Cys)
|
rs371124046
|
0.00001
|
|
NM_001035.3(RYR2):c.3707A>G (p.Tyr1236Cys)
|
rs1421115838
|
0.00001
|
|
NM_001035.3(RYR2):c.3729A>C (p.Thr1243=)
|
rs536080941
|
0.00001
|
|
NM_001035.3(RYR2):c.3735G>A (p.Arg1245=)
|
rs190884873
|
0.00001
|
|
NM_001035.3(RYR2):c.3767C>T (p.Pro1256Leu)
|
rs773915323
|
0.00001
|
|
NM_001035.3(RYR2):c.3805G>C (p.Glu1269Gln)
|
rs763766154
|
0.00001
|
|
NM_001035.3(RYR2):c.3807+20A>G
|
rs1377676188
|
0.00001
|
|
NM_001035.3(RYR2):c.3808-17G>A
|
rs374061574
|
0.00001
|
|
NM_001035.3(RYR2):c.3808-18C>T
|
rs996356470
|
0.00001
|
|
NM_001035.3(RYR2):c.3808-20A>G
|
rs1420964292
|
0.00001
|
|
NM_001035.3(RYR2):c.3808-9G>A
|
rs557880129
|
0.00001
|
|
NM_001035.3(RYR2):c.3823G>A (p.Gly1275Ser)
|
rs769294223
|
0.00001
|
|
NM_001035.3(RYR2):c.3839C>T (p.Ser1280Phe)
|
rs759424061
|
0.00001
|
|
NM_001035.3(RYR2):c.3844T>C (p.Cys1282Arg)
|
rs1057518304
|
0.00001
|
|
NM_001035.3(RYR2):c.3890C>T (p.Thr1297Ile)
|
rs746350036
|
0.00001
|
|
NM_001035.3(RYR2):c.3894T>G (p.Asp1298Glu)
|
rs1383564773
|
0.00001
|
|
NM_001035.3(RYR2):c.3898A>C (p.Met1300Leu)
|
rs769384124
|
0.00001
|
|
NM_001035.3(RYR2):c.3899T>C (p.Met1300Thr)
|
rs772739688
|
0.00001
|
|
NM_001035.3(RYR2):c.3910C>T (p.Leu1304=)
|
rs555317545
|
0.00001
|
|
NM_001035.3(RYR2):c.3920C>T (p.Pro1307Leu)
|
rs1412253468
|
0.00001
|
|
NM_001035.3(RYR2):c.3924C>T (p.Ile1308=)
|
rs761010650
|
0.00001
|
|
NM_001035.3(RYR2):c.3930C>T (p.Cys1310=)
|
rs764454542
|
0.00001
|
|
NM_001035.3(RYR2):c.3931G>A (p.Ala1311Thr)
|
rs368635274
|
0.00001
|
|
NM_001035.3(RYR2):c.3932C>T (p.Ala1311Val)
|
rs757471928
|
0.00001
|
|
NM_001035.3(RYR2):c.3950C>T (p.Thr1317Met)
|
rs752107643
|
0.00001
|
|
NM_001035.3(RYR2):c.3955G>A (p.Ala1319Thr)
|
rs376526841
|
0.00001
|
|
NM_001035.3(RYR2):c.3958G>A (p.Gly1320Arg)
|
rs1264658238
|
0.00001
|
|
NM_001035.3(RYR2):c.3964C>T (p.Leu1322Phe)
|
rs770433289
|
0.00001
|
|
NM_001035.3(RYR2):c.3973G>C (p.Ala1325Pro)
|
rs1043523829
|
0.00001
|
|
NM_001035.3(RYR2):c.3987G>A (p.Gly1329=)
|
rs775470259
|
0.00001
|
|
NM_001035.3(RYR2):c.4010A>G (p.Tyr1337Cys)
|
rs765369749
|
0.00001
|
|
NM_001035.3(RYR2):c.401C>G (p.Ser134Cys)
|
rs768757680
|
0.00001
|
|
NM_001035.3(RYR2):c.4020T>A (p.Asp1340Glu)
|
rs1040456396
|
0.00001
|
|
NM_001035.3(RYR2):c.4078G>A (p.Asp1360Asn)
|
rs1274140033
|
0.00001
|
|
NM_001035.3(RYR2):c.4095T>G (p.Ala1365=)
|
rs376401462
|
0.00001
|
|
NM_001035.3(RYR2):c.4097C>A (p.Thr1366Asn)
|
rs531412940
|
0.00001
|
|
NM_001035.3(RYR2):c.409C>T (p.Arg137Trp)
|
rs761916230
|
0.00001
|
|
NM_001035.3(RYR2):c.4121A>G (p.Lys1374Arg)
|
rs1675089718
|
0.00001
|
|
NM_001035.3(RYR2):c.412T>G (p.Ser138Ala)
|
rs765875891
|
0.00001
|
|
NM_001035.3(RYR2):c.4161-17C>T
|
rs1237981976
|
0.00001
|
|
NM_001035.3(RYR2):c.4182G>A (p.Lys1394=)
|
rs953147627
|
0.00001
|
|
NM_001035.3(RYR2):c.4191C>T (p.Tyr1397=)
|
rs753181426
|
0.00001
|
|
NM_001035.3(RYR2):c.4209A>G (p.Ala1403=)
|
rs727505126
|
0.00001
|
|
NM_001035.3(RYR2):c.4215C>T (p.Leu1405=)
|
rs754504287
|
0.00001
|
|
NM_001035.3(RYR2):c.4241G>A (p.Arg1414Gln)
|
rs727504850
|
0.00001
|
|
NM_001035.3(RYR2):c.4250A>G (p.Tyr1417Cys)
|
rs777557037
|
0.00001
|
|
NM_001035.3(RYR2):c.4266A>G (p.Gln1422=)
|
rs759662492
|
0.00001
|
|
NM_001035.3(RYR2):c.4274C>T (p.Thr1425Met)
|
rs761181641
|
0.00001
|
|
NM_001035.3(RYR2):c.4275+7G>T
|
rs1573005697
|
0.00001
|
|
NM_001035.3(RYR2):c.4276-10A>G
|
rs551064291
|
0.00001
|
|
NM_001035.3(RYR2):c.4280A>G (p.Tyr1427Cys)
|
rs1427196403
|
0.00001
|
|
NM_001035.3(RYR2):c.4294A>C (p.Ile1432Leu)
|
rs769163639
|
0.00001
|
|
NM_001035.3(RYR2):c.4305A>G (p.Gly1435=)
|
rs776968385
|
0.00001
|
|
NM_001035.3(RYR2):c.4359T>C (p.Tyr1453=)
|
rs1054102228
|
0.00001
|
|
NM_001035.3(RYR2):c.4366G>A (p.Gly1456Ser)
|
rs1265113691
|
0.00001
|
|
NM_001035.3(RYR2):c.4387C>T (p.Arg1463Cys)
|
rs764144130
|
0.00001
|
|
NM_001035.3(RYR2):c.4389C>T (p.Arg1463=)
|
rs1391863207
|
0.00001
|
|
NM_001035.3(RYR2):c.4398A>G (p.Thr1466=)
|
rs1431223559
|
0.00001
|
|
NM_001035.3(RYR2):c.4428G>A (p.Val1476=)
|
rs747148516
|
0.00001
|
|
NM_001035.3(RYR2):c.4444C>T (p.Arg1482Cys)
|
rs564869863
|
0.00001
|
|
NM_001035.3(RYR2):c.4452C>T (p.Asn1484=)
|
rs1291160405
|
0.00001
|
|
NM_001035.3(RYR2):c.4457A>G (p.Tyr1486Cys)
|
rs1353376223
|
0.00001
|
|
NM_001035.3(RYR2):c.4458T>C (p.Tyr1486=)
|
rs780368223
|
0.00001
|
|
NM_001035.3(RYR2):c.4498C>T (p.Arg1500Cys)
|
rs778394498
|
0.00001
|
|
NM_001035.3(RYR2):c.4503C>A (p.Asn1501Lys)
|
rs794728735
|
0.00001
|
|
NM_001035.3(RYR2):c.4507A>G (p.Asn1503Asp)
|
rs794728736
|
0.00001
|
|
NM_001035.3(RYR2):c.4538C>T (p.Ala1513Val)
|
rs895086218
|
0.00001
|
|
NM_001035.3(RYR2):c.4587A>G (p.Thr1529=)
|
rs373148393
|
0.00001
|
|
NM_001035.3(RYR2):c.4596+16T>C
|
rs755095790
|
0.00001
|
|
NM_001035.3(RYR2):c.4626G>A (p.Ala1542=)
|
rs1272771676
|
0.00001
|
|
NM_001035.3(RYR2):c.463+10T>C
|
rs193922627
|
0.00001
|
|
NM_001035.3(RYR2):c.4641T>G (p.Ala1547=)
|
rs1676561693
|
0.00001
|
|
NM_001035.3(RYR2):c.4653T>C (p.Asn1551=)
|
rs759834317
|
0.00001
|
|
NM_001035.3(RYR2):c.4666G>A (p.Glu1556Lys)
|
rs1048532590
|
0.00001
|
|
NM_001035.3(RYR2):c.4668G>A (p.Glu1556=)
|
rs370332700
|
0.00001
|
|
NM_001035.3(RYR2):c.4677A>T (p.Arg1559Ser)
|
rs756330224
|
0.00001
|
|
NM_001035.3(RYR2):c.4680A>C (p.Ile1560=)
|
rs754412394
|
0.00001
|
|
NM_001035.3(RYR2):c.4683+18T>C
|
rs371394153
|
0.00001
|
|
NM_001035.3(RYR2):c.4683+7A>T
|
rs757658900
|
0.00001
|
|
NM_001035.3(RYR2):c.4684-4C>T
|
rs748788260
|
0.00001
|
|
NM_001035.3(RYR2):c.468G>A (p.Glu156=)
|
rs763840882
|
0.00001
|
|
NM_001035.3(RYR2):c.4700C>T (p.Ser1567Leu)
|
rs772008541
|
0.00001
|
|
NM_001035.3(RYR2):c.4701G>A (p.Ser1567=)
|
rs775379095
|
0.00001
|
|
NM_001035.3(RYR2):c.4710A>G (p.Leu1570=)
|
rs1401322778
|
0.00001
|
|
NM_001035.3(RYR2):c.4723C>T (p.His1575Tyr)
|
rs397516535
|
0.00001
|
|
NM_001035.3(RYR2):c.4732C>T (p.Pro1578Ser)
|
rs761852488
|
0.00001
|
|
NM_001035.3(RYR2):c.4752G>A (p.Pro1584=)
|
rs780111656
|
0.00001
|
|
NM_001035.3(RYR2):c.4753C>T (p.Arg1585Cys)
|
rs528206995
|
0.00001
|
|
NM_001035.3(RYR2):c.4754G>A (p.Arg1585His)
|
rs1392451418
|
0.00001
|
|
NM_001035.3(RYR2):c.4779C>T (p.His1593=)
|
rs769774527
|
0.00001
|
|
NM_001035.3(RYR2):c.4780G>A (p.Val1594Ile)
|
rs794728737
|
0.00001
|
|
NM_001035.3(RYR2):c.4791C>T (p.Ser1597=)
|
rs766910108
|
0.00001
|
|
NM_001035.3(RYR2):c.4793G>A (p.Arg1598Lys)
|
rs1056392680
|
0.00001
|
|
NM_001035.3(RYR2):c.48+11T>A
|
rs1273557361
|
0.00001
|
|
NM_001035.3(RYR2):c.4828C>T (p.Arg1610Ter)
|
rs794728738
|
0.00001
|
|
NM_001035.3(RYR2):c.4831A>G (p.Ile1611Val)
|
rs755572625
|
0.00001
|
|
NM_001035.3(RYR2):c.483C>T (p.Thr161=)
|
rs780513819
|
0.00001
|
|
NM_001035.3(RYR2):c.4840C>T (p.Arg1614Cys)
|
rs373079767
|
0.00001
|
|
NM_001035.3(RYR2):c.4841G>A (p.Arg1614His)
|
rs746943081
|
0.00001
|
|
NM_001035.3(RYR2):c.4847G>A (p.Gly1616Asp)
|
rs1295709441
|
0.00001
|
|
NM_001035.3(RYR2):c.4882A>G (p.Met1628Val)
|
rs757286828
|
0.00001
|
|
NM_001035.3(RYR2):c.49-10C>T
|
rs760891474
|
0.00001
|
|
NM_001035.3(RYR2):c.49-8C>T
|
rs764876896
|
0.00001
|
|
NM_001035.3(RYR2):c.4905A>G (p.Glu1635=)
|
rs1028004368
|
0.00001
|
|
NM_001035.3(RYR2):c.4911A>G (p.Arg1637=)
|
rs1251055364
|
0.00001
|
|
NM_001035.3(RYR2):c.4950G>C (p.Leu1650Phe)
|
rs376251968
|
0.00001
|
|
NM_001035.3(RYR2):c.5046A>C (p.Glu1682Asp)
|
rs3766870
|
0.00001
|
|
NM_001035.3(RYR2):c.5056C>T (p.Leu1686Phe)
|
rs752684338
|
0.00001
|
|
NM_001035.3(RYR2):c.505C>T (p.Arg169Ter)
|
rs749930577
|
0.00001
|
|
NM_001035.3(RYR2):c.5102G>C (p.Gly1701Ala)
|
rs750602360
|
0.00001
|
|
NM_001035.3(RYR2):c.5136C>T (p.Ser1712=)
|
rs397516540
|
0.00001
|
|
NM_001035.3(RYR2):c.513A>G (p.Glu171=)
|
rs923459089
|
0.00001
|
|
NM_001035.3(RYR2):c.5149G>T (p.Ala1717Ser)
|
rs547829995
|
0.00001
|
|
NM_001035.3(RYR2):c.5198C>T (p.Thr1733Met)
|
rs750668049
|
0.00001
|
|
NM_001035.3(RYR2):c.5235A>G (p.Lys1745=)
|
rs755089780
|
0.00001
|
|
NM_001035.3(RYR2):c.5247A>G (p.Pro1749=)
|
rs779576294
|
0.00001
|
|
NM_001035.3(RYR2):c.5261G>C (p.Ser1754Thr)
|
rs397516542
|
0.00001
|
|
NM_001035.3(RYR2):c.5268C>G (p.Ser1756=)
|
rs768147036
|
0.00001
|
|
NM_001035.3(RYR2):c.5279G>A (p.Arg1760Gln)
|
rs765106198
|
0.00001
|
|
NM_001035.3(RYR2):c.5298C>T (p.Pro1766=)
|
rs570743152
|
0.00001
|
|
NM_001035.3(RYR2):c.5336G>A (p.Ser1779Asn)
|
rs778312204
|
0.00001
|
|
NM_001035.3(RYR2):c.5363A>C (p.Lys1788Thr)
|
rs779637196
|
0.00001
|
|
NM_001035.3(RYR2):c.5404G>A (p.Gly1802Ser)
|
rs773181830
|
0.00001
|
|
NM_001035.3(RYR2):c.5406C>T (p.Gly1802=)
|
rs1553522322
|
0.00001
|
|
NM_001035.3(RYR2):c.5411T>C (p.Leu1804Pro)
|
rs1411508789
|
0.00001
|
|
NM_001035.3(RYR2):c.5416G>A (p.Ala1806Thr)
|
rs767728159
|
0.00001
|
|
NM_001035.3(RYR2):c.5419C>T (p.Arg1807Trp)
|
rs752863160
|
0.00001
|
|
NM_001035.3(RYR2):c.5420G>A (p.Arg1807Gln)
|
rs730880192
|
0.00001
|
|
NM_001035.3(RYR2):c.5466C>T (p.Ile1822=)
|
rs1481865807
|
0.00001
|
|
NM_001035.3(RYR2):c.5487G>T (p.Leu1829=)
|
rs371250741
|
0.00001
|
|
NM_001035.3(RYR2):c.5499C>A (p.Ile1833=)
|
rs974906491
|
0.00001
|
|
NM_001035.3(RYR2):c.5542C>T (p.Pro1848Ser)
|
rs760731968
|
0.00001
|
|
NM_001035.3(RYR2):c.555C>T (p.Ser185=)
|
rs369484232
|
0.00001
|
|
NM_001035.3(RYR2):c.5589G>T (p.Thr1863=)
|
rs778971089
|
0.00001
|
|
NM_001035.3(RYR2):c.5590C>A (p.Leu1864Met)
|
rs1202498329
|
0.00001
|
|
NM_001035.3(RYR2):c.5595G>A (p.Glu1865=)
|
rs1054011849
|
0.00001
|
|
NM_001035.3(RYR2):c.5598A>G (p.Lys1866=)
|
rs1573126569
|
0.00001
|
|
NM_001035.3(RYR2):c.561C>T (p.Ser187=)
|
rs1303356039
|
0.00001
|
|
NM_001035.3(RYR2):c.5645A>G (p.Glu1882Gly)
|
rs376441643
|
0.00001
|
|
NM_001035.3(RYR2):c.5664G>C (p.Arg1888=)
|
rs758277755
|
0.00001
|
|
NM_001035.3(RYR2):c.5680C>A (p.Leu1894Ile)
|
rs555692728
|
0.00001
|
|
NM_001035.3(RYR2):c.569G>A (p.Arg190Lys)
|
rs1237664259
|
0.00001
|
|
NM_001035.3(RYR2):c.5700G>A (p.Glu1900=)
|
rs769862888
|
0.00001
|
|
NM_001035.3(RYR2):c.5710T>C (p.Leu1904=)
|
rs1286936034
|
0.00001
|
|
NM_001035.3(RYR2):c.5712G>A (p.Leu1904=)
|
rs377763336
|
0.00001
|
|
NM_001035.3(RYR2):c.5715+11C>T
|
rs766754503
|
0.00001
|
|
NM_001035.3(RYR2):c.5717T>C (p.Met1906Thr)
|
rs748307254
|
0.00001
|
|
NM_001035.3(RYR2):c.5751G>T (p.Gln1917His)
|
rs1259517167
|
0.00001
|
|
NM_001035.3(RYR2):c.5755C>T (p.Arg1919Trp)
|
rs771469528
|
0.00001
|
|
NM_001035.3(RYR2):c.5763G>A (p.Arg1921=)
|
rs886046270
|
0.00001
|
|
NM_001035.3(RYR2):c.5821C>A (p.Arg1941Ser)
|
rs754811291
|
0.00001
|
|
NM_001035.3(RYR2):c.5824T>C (p.Phe1942Leu)
|
rs368669045
|
0.00001
|
|
NM_001035.3(RYR2):c.5874A>C (p.Thr1958=)
|
rs746302767
|
0.00001
|
|
NM_001035.3(RYR2):c.5916+9A>G
|
rs1002006336
|
0.00001
|
|
NM_001035.3(RYR2):c.5933A>G (p.Asn1978Ser)
|
rs773006920
|
0.00001
|
|
NM_001035.3(RYR2):c.5949A>C (p.Lys1983Asn)
|
rs1181887323
|
0.00001
|
|
NM_001035.3(RYR2):c.5977C>T (p.Arg1993Cys)
|
rs767406030
|
0.00001
|
|
NM_001035.3(RYR2):c.5978G>A (p.Arg1993His)
|
rs551362343
|
0.00001
|
|
NM_001035.3(RYR2):c.6023-7A>G
|
rs771502164
|
0.00001
|
|
NM_001035.3(RYR2):c.6042T>C (p.Asp2014=)
|
rs376907409
|
0.00001
|
|
NM_001035.3(RYR2):c.6079G>A (p.Gly2027Arg)
|
rs1226663873
|
0.00001
|
|
NM_001035.3(RYR2):c.6096G>C (p.Leu2032=)
|
rs1482965096
|
0.00001
|
|
NM_001035.3(RYR2):c.6140C>T (p.Pro2047Leu)
|
rs1464384648
|
0.00001
|
|
NM_001035.3(RYR2):c.6159A>G (p.Lys2053=)
|
rs779498979
|
0.00001
|
|
NM_001035.3(RYR2):c.6166+10A>G
|
rs776614601
|
0.00001
|
|
NM_001035.3(RYR2):c.6167-15A>G
|
rs1559136122
|
0.00001
|
|
NM_001035.3(RYR2):c.6167-3C>T
|
rs1327145604
|
0.00001
|
|
NM_001035.3(RYR2):c.6167-4G>A
|
rs1290343163
|
0.00001
|
|
NM_001035.3(RYR2):c.616G>A (p.Ala206Thr)
|
rs930769080
|
0.00001
|
|
NM_001035.3(RYR2):c.6174G>A (p.Leu2058=)
|
rs531705847
|
0.00001
|
|
NM_001035.3(RYR2):c.6185T>C (p.Ile2062Thr)
|
rs750073486
|
0.00001
|
|
NM_001035.3(RYR2):c.6203G>A (p.Arg2068Gln)
|
rs869025512
|
0.00001
|
|
NM_001035.3(RYR2):c.6230A>G (p.Asp2077Gly)
|
rs1415188748
|
0.00001
|
|
NM_001035.3(RYR2):c.6233C>T (p.Pro2078Leu)
|
rs1158268722
|
0.00001
|
|
NM_001035.3(RYR2):c.625C>G (p.Gln209Glu)
|
rs749414350
|
0.00001
|
|
NM_001035.3(RYR2):c.6265C>T (p.His2089Tyr)
|
rs1057524513
|
0.00001
|
|
NM_001035.3(RYR2):c.6267T>C (p.His2089=)
|
rs1222494774
|
0.00001
|
|
NM_001035.3(RYR2):c.6269G>A (p.Arg2090Gln)
|
rs1379845021
|
0.00001
|
|
NM_001035.3(RYR2):c.6321G>A (p.Thr2107=)
|
rs764476121
|
0.00001
|
|
NM_001035.3(RYR2):c.6336C>T (p.Ser2112=)
|
rs373777614
|
0.00001
|
|
NM_001035.3(RYR2):c.6346A>G (p.Thr2116Ala)
|
rs780707255
|
0.00001
|
|
NM_001035.3(RYR2):c.6393T>C (p.Ser2131=)
|
rs370087757
|
0.00001
|
|
NM_001035.3(RYR2):c.6430C>T (p.Arg2144Cys)
|
rs770847446
|
0.00001
|
|
NM_001035.3(RYR2):c.6431G>A (p.Arg2144His)
|
rs1243083109
|
0.00001
|
|
NM_001035.3(RYR2):c.6443A>T (p.Asp2148Val)
|
rs1375995287
|
0.00001
|
|
NM_001035.3(RYR2):c.6468C>T (p.Tyr2156=)
|
rs1057522408
|
0.00001
|
|
NM_001035.3(RYR2):c.6504C>T (p.His2168=)
|
rs760237464
|
0.00001
|
|
NM_001035.3(RYR2):c.6519G>T (p.Glu2173Asp)
|
rs368920731
|
0.00001
|
|
NM_001035.3(RYR2):c.6534C>T (p.Val2178=)
|
rs904724019
|
0.00001
|
|
NM_001035.3(RYR2):c.6556-15A>G
|
rs1431223272
|
0.00001
|
|
NM_001035.3(RYR2):c.6606C>T (p.Tyr2202=)
|
rs1270857666
|
0.00001
|
|
NM_001035.3(RYR2):c.6618A>C (p.Ile2206=)
|
rs778352961
|
0.00001
|
|
NM_001035.3(RYR2):c.6688+13C>A
|
rs1262322008
|
0.00001
|
|
NM_001035.3(RYR2):c.6773G>A (p.Arg2258His)
|
rs779289104
|
0.00001
|
|
NM_001035.3(RYR2):c.6779C>T (p.Pro2260Leu)
|
rs746319435
|
0.00001
|
|
NM_001035.3(RYR2):c.6786A>G (p.Leu2262=)
|
rs747343896
|
0.00001
|
|
NM_001035.3(RYR2):c.6793-17_6793-16dup
|
rs761591314
|
0.00001
|
|
NM_001035.3(RYR2):c.6811G>A (p.Gly2271Ser)
|
rs375371340
|
0.00001
|
|
NM_001035.3(RYR2):c.6825A>G (p.Gln2275=)
|
rs529339356
|
0.00001
|
|
NM_001035.3(RYR2):c.6849G>C (p.Lys2283Asn)
|
rs1558114884
|
0.00001
|
|
NM_001035.3(RYR2):c.6862A>G (p.Ile2288Val)
|
rs1228663009
|
0.00001
|
|
NM_001035.3(RYR2):c.6903T>C (p.Phe2301=)
|
rs1681104404
|
0.00001
|
|
NM_001035.3(RYR2):c.6952A>G (p.Asn2318Asp)
|
rs1006334960
|
0.00001
|
|
NM_001035.3(RYR2):c.6976C>T (p.Arg2326Trp)
|
rs1207293121
|
0.00001
|
|
NM_001035.3(RYR2):c.6981G>A (p.Arg2327=)
|
rs1198957149
|
0.00001
|
|
NM_001035.3(RYR2):c.6997C>A (p.Pro2333Thr)
|
rs370137005
|
0.00001
|
|
NM_001035.3(RYR2):c.7029T>A (p.Leu2343=)
|
rs1376856675
|
0.00001
|
|
NM_001035.3(RYR2):c.7040T>C (p.Met2347Thr)
|
rs1177415020
|
0.00001
|
|
NM_001035.3(RYR2):c.7055A>G (p.Lys2352Arg)
|
rs1378161090
|
0.00001
|
|
NM_001035.3(RYR2):c.7057A>G (p.Ile2353Val)
|
rs375356774
|
0.00001
|
|
NM_001035.3(RYR2):c.7117G>T (p.Asp2373Tyr)
|
rs397516548
|
0.00001
|
|
NM_001035.3(RYR2):c.7185G>A (p.Leu2395=)
|
rs769210153
|
0.00001
|
|
NM_001035.3(RYR2):c.7220A>C (p.His2407Pro)
|
rs1197580766
|
0.00001
|
|
NM_001035.3(RYR2):c.7230T>C (p.His2410=)
|
rs754982634
|
0.00001
|
|
NM_001035.3(RYR2):c.7234G>A (p.Gly2412Arg)
|
rs550534270
|
0.00001
|
|
NM_001035.3(RYR2):c.7236G>A (p.Gly2412=)
|
rs1553265780
|
0.00001
|
|
NM_001035.3(RYR2):c.7260G>A (p.Arg2420=)
|
rs771684537
|
0.00001
|
|
NM_001035.3(RYR2):c.7290A>G (p.Gly2430=)
|
rs765196007
|
0.00001
|
|
NM_001035.3(RYR2):c.7302C>T (p.Gly2434=)
|
rs766592875
|
0.00001
|
|
NM_001035.3(RYR2):c.7359A>G (p.Glu2453=)
|
rs779456443
|
0.00001
|
|
NM_001035.3(RYR2):c.7373C>T (p.Ala2458Val)
|
rs768478443
|
0.00001
|
|
NM_001035.3(RYR2):c.7374G>A (p.Ala2458=)
|
rs780891381
|
0.00001
|
|
NM_001035.3(RYR2):c.7377G>A (p.Gly2459=)
|
rs747614796
|
0.00001
|
|
NM_001035.3(RYR2):c.737C>T (p.Thr246Ile)
|
rs757478498
|
0.00001
|
|
NM_001035.3(RYR2):c.7443A>G (p.Gln2481=)
|
rs759314800
|
0.00001
|
|
NM_001035.3(RYR2):c.7512+14G>A
|
rs748775701
|
0.00001
|
|
NM_001035.3(RYR2):c.7512G>A (p.Thr2504=)
|
rs1682411061
|
0.00001
|
|
NM_001035.3(RYR2):c.7528A>G (p.Thr2510Ala)
|
rs777279244
|
0.00001
|
|
NM_001035.3(RYR2):c.7550A>G (p.Asn2517Ser)
|
rs1314129285
|
0.00001
|
|
NM_001035.3(RYR2):c.7570G>A (p.Val2524Ile)
|
rs934248102
|
0.00001
|
|
NM_001035.3(RYR2):c.7578A>G (p.Pro2526=)
|
rs763555863
|
0.00001
|
|
NM_001035.3(RYR2):c.75C>T (p.Thr25=)
|
rs751027523
|
0.00001
|
|
NM_001035.3(RYR2):c.7621C>A (p.His2541Asn)
|
rs763814352
|
0.00001
|
|
NM_001035.3(RYR2):c.7654G>A (p.Val2552Met)
|
rs746822781
|
0.00001
|
|
NM_001035.3(RYR2):c.7658A>G (p.Tyr2553Cys)
|
rs1358268703
|
0.00001
|
|
NM_001035.3(RYR2):c.7696C>T (p.Arg2566Trp)
|
rs773475551
|
0.00001
|
|
NM_001035.3(RYR2):c.769C>T (p.Arg257Trp)
|
rs750477551
|
0.00001
|
|
NM_001035.3(RYR2):c.773+18T>C
|
rs758435186
|
0.00001
|
|
NM_001035.3(RYR2):c.7733+3G>A
|
rs1014182598
|
0.00001
|
|
NM_001035.3(RYR2):c.7750A>G (p.Met2584Val)
|
rs772541555
|
0.00001
|
|
NM_001035.3(RYR2):c.7782T>C (p.Phe2594=)
|
rs1320297410
|
0.00001
|
|
NM_001035.3(RYR2):c.7807G>A (p.Ala2603Thr)
|
rs59331340
|
0.00001
|
|
NM_001035.3(RYR2):c.7825-5C>T
|
rs1288446861
|
0.00001
|
|
NM_001035.3(RYR2):c.7936T>A (p.Trp2646Arg)
|
rs769118599
|
0.00001
|
|
NM_001035.3(RYR2):c.7940G>A (p.Gly2647Asp)
|
rs776908944
|
0.00001
|
|
NM_001035.3(RYR2):c.7955T>A (p.Leu2652Gln)
|
rs748531950
|
0.00001
|
|
NM_001035.3(RYR2):c.7955T>C (p.Leu2652Pro)
|
rs748531950
|
0.00001
|
|
NM_001035.3(RYR2):c.795C>T (p.Gly265=)
|
rs189449390
|
0.00001
|
|
NM_001035.3(RYR2):c.796G>A (p.Ala266Thr)
|
rs373326624
|
0.00001
|
|
NM_001035.3(RYR2):c.8019G>A (p.Ala2673=)
|
rs745484020
|
0.00001
|
|
NM_001035.3(RYR2):c.8027T>C (p.Leu2676Ser)
|
rs1338788038
|
0.00001
|
|
NM_001035.3(RYR2):c.8028G>A (p.Leu2676=)
|
rs775159757
|
0.00001
|
|
NM_001035.3(RYR2):c.8058C>T (p.Val2686=)
|
rs761566087
|
0.00001
|
|
NM_001035.3(RYR2):c.8063T>A (p.Met2688Lys)
|
rs1257768473
|
0.00001
|
|
NM_001035.3(RYR2):c.8075A>G (p.Gln2692Arg)
|
rs370072276
|
0.00001
|
|
NM_001035.3(RYR2):c.8083A>G (p.Met2695Val)
|
rs886959086
|
0.00001
|
|
NM_001035.3(RYR2):c.808C>T (p.His270Tyr)
|
rs745558219
|
0.00001
|
|
NM_001035.3(RYR2):c.8107C>A (p.Pro2703Thr)
|
rs763186606
|
0.00001
|
|
NM_001035.3(RYR2):c.8129+20C>A
|
rs755080362
|
0.00001
|
|
NM_001035.3(RYR2):c.8130-5C>T
|
rs1683411935
|
0.00001
|
|
NM_001035.3(RYR2):c.8143G>A (p.Glu2715Lys)
|
rs756472432
|
0.00001
|
|
NM_001035.3(RYR2):c.8149T>C (p.Leu2717=)
|
rs1296293752
|
0.00001
|
|
NM_001035.3(RYR2):c.819C>T (p.Ser273=)
|
rs746461178
|
0.00001
|
|
NM_001035.3(RYR2):c.8209-9T>C
|
rs1184943114
|
0.00001
|
|
NM_001035.3(RYR2):c.8228A>G (p.Tyr2743Cys)
|
rs368952500
|
0.00001
|
|
NM_001035.3(RYR2):c.8269A>G (p.Met2757Val)
|
rs376015452
|
0.00001
|
|
NM_001035.3(RYR2):c.8283G>A (p.Lys2761=)
|
rs780778878
|
0.00001
|
|
NM_001035.3(RYR2):c.8287T>C (p.Leu2763=)
|
rs1057520868
|
0.00001
|
|
NM_001035.3(RYR2):c.8298+16T>C
|
rs775650063
|
0.00001
|
|
NM_001035.3(RYR2):c.8298+5G>A
|
rs773129405
|
0.00001
|
|
NM_001035.3(RYR2):c.8298+6G>C
|
rs915760671
|
0.00001
|
|
NM_001035.3(RYR2):c.8310T>G (p.Ile2770Met)
|
rs974847063
|
0.00001
|
|
NM_001035.3(RYR2):c.8314C>T (p.Arg2772Cys)
|
rs754379518
|
0.00001
|
|
NM_001035.3(RYR2):c.8325C>T (p.Ile2775=)
|
rs1474322992
|
0.00001
|
|
NM_001035.3(RYR2):c.836C>A (p.Thr279Lys)
|
rs754312807
|
0.00001
|
|
NM_001035.3(RYR2):c.836C>T (p.Thr279Met)
|
rs754312807
|
0.00001
|
|
NM_001035.3(RYR2):c.8377C>T (p.Arg2793Trp)
|
rs373172640
|
0.00001
|
|
NM_001035.3(RYR2):c.8392A>T (p.Met2798Leu)
|
rs1275797500
|
0.00001
|
|
NM_001035.3(RYR2):c.8414G>A (p.Arg2805His)
|
rs1247067433
|
0.00001
|
|
NM_001035.3(RYR2):c.8417G>A (p.Arg2806His)
|
rs955927781
|
0.00001
|
|
NM_001035.3(RYR2):c.8434C>G (p.Gln2812Glu)
|
rs377285717
|
0.00001
|
|
NM_001035.3(RYR2):c.8450C>T (p.Ala2817Val)
|
rs765782802
|
0.00001
|
|
NM_001035.3(RYR2):c.848+1G>A
|
rs772984053
|
0.00001
|
|
NM_001035.3(RYR2):c.8482A>C (p.Met2828Leu)
|
rs948094250
|
0.00001
|
|
NM_001035.3(RYR2):c.8486G>A (p.Ser2829Asn)
|
rs752268870
|
0.00001
|
|
NM_001035.3(RYR2):c.848C>T (p.Ala283Val)
|
rs1163526442
|
0.00001
|
|
NM_001035.3(RYR2):c.849-10T>C
|
rs771173251
|
0.00001
|
|
NM_001035.3(RYR2):c.849-12del
|
rs765156667
|
0.00001
|
|
NM_001035.3(RYR2):c.8493T>C (p.Val2831=)
|
rs755660659
|
0.00001
|
|
NM_001035.3(RYR2):c.8496A>G (p.Thr2832=)
|
rs375915461
|
0.00001
|
|
NM_001035.3(RYR2):c.8559A>C (p.Ala2853=)
|
rs1381591533
|
0.00001
|
|
NM_001035.3(RYR2):c.8568G>A (p.Lys2856=)
|
rs887194766
|
0.00001
|
|
NM_001035.3(RYR2):c.8583G>A (p.Glu2861=)
|
rs1312234082
|
0.00001
|
|
NM_001035.3(RYR2):c.8591-6T>C
|
rs371383631
|
0.00001
|
|
NM_001035.3(RYR2):c.8606C>T (p.Pro2869Leu)
|
rs374318917
|
0.00001
|
|
NM_001035.3(RYR2):c.8621A>G (p.Tyr2874Cys)
|
rs1481998485
|
0.00001
|
|
NM_001035.3(RYR2):c.8631G>A (p.Leu2877=)
|
rs1060503848
|
0.00001
|
|
NM_001035.3(RYR2):c.8652G>A (p.Lys2884=)
|
rs758284122
|
0.00001
|
|
NM_001035.3(RYR2):c.865A>G (p.Ile289Val)
|
rs767673456
|
0.00001
|
|
NM_001035.3(RYR2):c.8681A>G (p.Lys2894Arg)
|
rs1374749880
|
0.00001
|
|
NM_001035.3(RYR2):c.8714+13A>G
|
rs876657579
|
0.00001
|
|
NM_001035.3(RYR2):c.8714+20A>G
|
rs1176577543
|
0.00001
|
|
NM_001035.3(RYR2):c.8714+9A>T
|
rs541149328
|
0.00001
|
|
NM_001035.3(RYR2):c.8715-16_8715-14dup
|
rs1236198880
|
0.00001
|
|
NM_001035.3(RYR2):c.8715-7C>G
|
rs1015823961
|
0.00001
|
|
NM_001035.3(RYR2):c.8734C>T (p.Leu2912=)
|
rs772605413
|
0.00001
|
|
NM_001035.3(RYR2):c.8736G>A (p.Leu2912=)
|
rs762521873
|
0.00001
|
|
NM_001035.3(RYR2):c.876A>T (p.Gly292=)
|
rs1306804742
|
0.00001
|
|
NM_001035.3(RYR2):c.8791C>T (p.Arg2931Cys)
|
rs777983238
|
0.00001
|
|
NM_001035.3(RYR2):c.8792G>T (p.Arg2931Leu)
|
rs905226907
|
0.00001
|
|
NM_001035.3(RYR2):c.8805A>G (p.Glu2935=)
|
rs915071961
|
0.00001
|
|
NM_001035.3(RYR2):c.8816A>G (p.Tyr2939Cys)
|
rs375408791
|
0.00001
|
|
NM_001035.3(RYR2):c.881C>T (p.Pro294Leu)
|
rs750542606
|
0.00001
|
|
NM_001035.3(RYR2):c.8831-4A>G
|
rs1253963504
|
0.00001
|
|
NM_001035.3(RYR2):c.8879T>C (p.Ile2960Thr)
|
rs759048462
|
0.00001
|
|
NM_001035.3(RYR2):c.8896-9T>C
|
rs773401697
|
0.00001
|
|
NM_001035.3(RYR2):c.8899G>A (p.Val2967Ile)
|
rs751546090
|
0.00001
|
|
NM_001035.3(RYR2):c.893G>A (p.Arg298His)
|
rs754259295
|
0.00001
|
|
NM_001035.3(RYR2):c.894C>T (p.Arg298=)
|
rs758606310
|
0.00001
|
|
NM_001035.3(RYR2):c.8956G>A (p.Ala2986Thr)
|
rs745482544
|
0.00001
|
|
NM_001035.3(RYR2):c.8993A>G (p.Asn2998Ser)
|
rs1243409978
|
0.00001
|
|
NM_001035.3(RYR2):c.9021A>G (p.Leu3007=)
|
rs748115355
|
0.00001
|
|
NM_001035.3(RYR2):c.9050A>G (p.His3017Arg)
|
rs777560001
|
0.00001
|
|
NM_001035.3(RYR2):c.9052A>G (p.Arg3018Gly)
|
rs748968052
|
0.00001
|
|
NM_001035.3(RYR2):c.9129-18C>G
|
rs780255237
|
0.00001
|
|
NM_001035.3(RYR2):c.9129-5T>C
|
rs1687846483
|
0.00001
|
|
NM_001035.3(RYR2):c.9138G>A (p.Met3046Ile)
|
rs867521152
|
0.00001
|
|
NM_001035.3(RYR2):c.9156T>C (p.Ser3052=)
|
rs760836447
|
0.00001
|
|
NM_001035.3(RYR2):c.916T>G (p.Leu306Val)
|
rs1159486360
|
0.00001
|
|
NM_001035.3(RYR2):c.9213C>T (p.Thr3071=)
|
rs759125855
|
0.00001
|
|
NM_001035.3(RYR2):c.9246C>T (p.His3082=)
|
rs1409285303
|
0.00001
|
|
NM_001035.3(RYR2):c.9284A>G (p.Asn3095Ser)
|
rs778591641
|
0.00001
|
|
NM_001035.3(RYR2):c.9293C>T (p.Thr3098Ile)
|
rs1227241969
|
0.00001
|
|
NM_001035.3(RYR2):c.9295G>C (p.Val3099Leu)
|
rs745616771
|
0.00001
|
|
NM_001035.3(RYR2):c.9329A>C (p.Glu3110Ala)
|
rs1419674808
|
0.00001
|
|
NM_001035.3(RYR2):c.9338G>A (p.Gly3113Asp)
|
rs770278770
|
0.00001
|
|
NM_001035.3(RYR2):c.9351C>T (p.Phe3117=)
|
rs773455753
|
0.00001
|
|
NM_001035.3(RYR2):c.9352G>A (p.Gly3118Arg)
|
rs730880194
|
0.00001
|
|
NM_001035.3(RYR2):c.9367+3A>G
|
rs767212566
|
0.00001
|
|
NM_001035.3(RYR2):c.939C>T (p.Asn313=)
|
rs925308875
|
0.00001
|
|
NM_001035.3(RYR2):c.9407G>A (p.Ser3136Asn)
|
rs748194372
|
0.00001
|
|
NM_001035.3(RYR2):c.9414T>C (p.Tyr3138=)
|
rs770274059
|
0.00001
|
|
NM_001035.3(RYR2):c.9425C>A (p.Thr3142Asn)
|
rs1299273877
|
0.00001
|
|
NM_001035.3(RYR2):c.9432G>A (p.Lys3144=)
|
rs367780360
|
0.00001
|
|
NM_001035.3(RYR2):c.9449+3A>G
|
rs1688012992
|
0.00001
|
|
NM_001035.3(RYR2):c.9454C>T (p.Arg3152Cys)
|
rs181105904
|
0.00001
|
|
NM_001035.3(RYR2):c.9492T>G (p.Gly3164=)
|
rs1252667379
|
0.00001
|
|
NM_001035.3(RYR2):c.9506C>T (p.Ala3169Val)
|
rs1411593172
|
0.00001
|
|
NM_001035.3(RYR2):c.9549C>T (p.Ile3183=)
|
rs1360654111
|
0.00001
|
|
NM_001035.3(RYR2):c.9551A>G (p.Tyr3184Cys)
|
rs772804208
|
0.00001
|
|
NM_001035.3(RYR2):c.95A>C (p.Gln32Pro)
|
rs909314611
|
0.00001
|
|
NM_001035.3(RYR2):c.9603G>A (p.Val3201=)
|
rs369285719
|
0.00001
|
|
NM_001035.3(RYR2):c.9621C>T (p.Asn3207=)
|
rs1370012835
|
0.00001
|
|
NM_001035.3(RYR2):c.9625C>A (p.Pro3209Thr)
|
rs767375014
|
0.00001
|
|
NM_001035.3(RYR2):c.9626C>T (p.Pro3209Leu)
|
rs956317332
|
0.00001
|
|
NM_001035.3(RYR2):c.9627G>A (p.Pro3209=)
|
rs377730320
|
0.00001
|
|
NM_001035.3(RYR2):c.9646G>A (p.Glu3216Lys)
|
rs760965671
|
0.00001
|
|
NM_001035.3(RYR2):c.9667G>A (p.Glu3223Lys)
|
rs556291797
|
0.00001
|
|
NM_001035.3(RYR2):c.9669G>C (p.Glu3223Asp)
|
rs377626309
|
0.00001
|
|
NM_001035.3(RYR2):c.9679C>T (p.Arg3227Cys)
|
rs747271394
|
0.00001
|
|
NM_001035.3(RYR2):c.9680G>A (p.Arg3227His)
|
rs755897867
|
0.00001
|
|
NM_001035.3(RYR2):c.9686C>T (p.Thr3229Ile)
|
rs1688441480
|
0.00001
|
|
NM_001035.3(RYR2):c.9691A>G (p.Met3231Val)
|
rs374899980
|
0.00001
|
|
NM_001035.3(RYR2):c.9692T>C (p.Met3231Thr)
|
rs1472732790
|
0.00001
|
|
NM_001035.3(RYR2):c.9703A>G (p.Met3235Val)
|
rs773957909
|
0.00001
|
|
NM_001035.3(RYR2):c.9742C>T (p.Arg3248Cys)
|
rs1290534109
|
0.00001
|
|
NM_001035.3(RYR2):c.9768C>T (p.Asn3256=)
|
rs574525966
|
0.00001
|
|
NM_001035.3(RYR2):c.9772C>T (p.Pro3258Ser)
|
rs368028300
|
0.00001
|
|
NM_001035.3(RYR2):c.9778C>T (p.Arg3260Trp)
|
rs765325906
|
0.00001
|
|
NM_001035.3(RYR2):c.9779G>A (p.Arg3260Gln)
|
rs750415021
|
0.00001
|
|
NM_001035.3(RYR2):c.9813G>A (p.Glu3271=)
|
rs757310700
|
0.00001
|
|
NM_001035.3(RYR2):c.9817A>G (p.Met3273Val)
|
rs1365049763
|
0.00001
|
|
NM_001035.3(RYR2):c.9841T>C (p.Leu3281=)
|
rs786205424
|
0.00001
|
|
NM_001035.3(RYR2):c.985T>C (p.Phe329Leu)
|
rs911638241
|
0.00001
|
|
NM_001035.3(RYR2):c.9872A>T (p.Asp3291Val)
|
rs1209752961
|
0.00001
|
|
NM_001035.3(RYR2):c.9874G>A (p.Glu3292Lys)
|
rs553445235
|
0.00001
|
|
NM_001035.3(RYR2):c.9901+11G>A
|
rs765377031
|
0.00001
|
|
NM_001035.3(RYR2):c.9902-14C>T
|
rs1190539351
|
0.00001
|
|
NM_001035.3(RYR2):c.9902-7T>C
|
rs1026024594
|
0.00001
|
|
NM_001035.3(RYR2):c.9903G>A (p.Val3301=)
|
rs756970130
|
0.00001
|
|
NM_001035.3(RYR2):c.9911A>G (p.Gln3304Arg)
|
rs794728766
|
0.00001
|
|
NM_001035.3(RYR2):c.9927A>G (p.Lys3309=)
|
rs184937795
|
0.00001
|
|
NM_001035.3(RYR2):c.9936T>A (p.Pro3312=)
|
rs967337973
|
0.00001
|
|
NM_001035.3(RYR2):c.9942C>G (p.Leu3314=)
|
rs746973997
|
0.00001
|
|
NM_001035.3(RYR2):c.994C>T (p.Arg332Trp)
|
rs876657995
|
0.00001
|
|
NM_001035.3(RYR2):c.995G>A (p.Arg332Gln)
|
rs1558793119
|
0.00001
|
|
NM_001035.3(RYR2):c.9962C>T (p.Pro3321Leu)
|
rs747933306
|
0.00001
|
|
NM_001035.3(RYR2):c.9993T>C (p.Ala3331=)
|
rs369150213
|
0.00001
|
|
NM_001035.3(RYR2):c.9995C>T (p.Thr3332Met)
|
rs774437805
|
0.00001
|
|
NM_001105206.3(LAMA4):c.2576C>T (p.Thr859Met)
|
rs730880121
|
0.00001
|
|
NM_001105206.3(LAMA4):c.4607G>T (p.Gly1536Val)
|
rs368316926
|
0.00001
|
|
NM_001148.6(ANK2):c.7247G>A (p.Arg2416Gln)
|
rs766001488
|
0.00001
|
|
NM_001232.4(CASQ2):c.1006G>A (p.Val336Ile)
|
rs886045160
|
0.00001
|
|
NM_001232.4(CASQ2):c.1015-10C>T
|
rs760797081
|
0.00001
|
|
NM_001232.4(CASQ2):c.1050C>T (p.Asp350=)
|
rs758060229
|
0.00001
|
|
NM_001232.4(CASQ2):c.1052A>G (p.Asp351Gly)
|
rs200899037
|
0.00001
|
|
NM_001232.4(CASQ2):c.1081T>A (p.Trp361Arg)
|
rs375811174
|
0.00001
|
|
NM_001232.4(CASQ2):c.111T>C (p.Leu37=)
|
rs1317500264
|
0.00001
|
|
NM_001232.4(CASQ2):c.1136A>T (p.Asp379Val)
|
rs940257382
|
0.00001
|
|
NM_001232.4(CASQ2):c.1150A>G (p.Asn384Asp)
|
rs772619751
|
0.00001
|
|
NM_001232.4(CASQ2):c.128A>G (p.Lys43Arg)
|
rs1163471411
|
0.00001
|
|
NM_001232.4(CASQ2):c.133G>T (p.Val45Phe)
|
rs746405346
|
0.00001
|
|
NM_001232.4(CASQ2):c.172G>A (p.Glu58Lys)
|
rs376824588
|
0.00001
|
|
NM_001232.4(CASQ2):c.210C>G (p.Phe70Leu)
|
rs774492523
|
0.00001
|
|
NM_001232.4(CASQ2):c.225C>T (p.Ile75=)
|
rs1373884863
|
0.00001
|
|
NM_001232.4(CASQ2):c.227T>C (p.Val76Ala)
|
rs1649199632
|
0.00001
|
|
NM_001232.4(CASQ2):c.229C>T (p.Leu77Phe)
|
rs781778467
|
0.00001
|
|
NM_001232.4(CASQ2):c.257A>G (p.His86Arg)
|
rs372587044
|
0.00001
|
|
NM_001232.4(CASQ2):c.281T>C (p.Val94Ala)
|
rs755766840
|
0.00001
|
|
NM_001232.4(CASQ2):c.289A>G (p.Lys97Glu)
|
rs750159744
|
0.00001
|
|
NM_001232.4(CASQ2):c.319+18G>A
|
rs757103068
|
0.00001
|
|
NM_001232.4(CASQ2):c.319+20T>C
|
rs751551798
|
0.00001
|
|
NM_001232.4(CASQ2):c.333A>G (p.Glu111=)
|
rs727502910
|
0.00001
|
|
NM_001232.4(CASQ2):c.361C>T (p.Arg121Cys)
|
rs570840019
|
0.00001
|
|
NM_001232.4(CASQ2):c.409T>C (p.Phe137Leu)
|
rs762328417
|
0.00001
|
|
NM_001232.4(CASQ2):c.449G>T (p.Ser150Ile)
|
rs772041539
|
0.00001
|
|
NM_001232.4(CASQ2):c.469G>C (p.Ala157Pro)
|
rs779063209
|
0.00001
|
|
NM_001232.4(CASQ2):c.482T>C (p.Ile161Thr)
|
rs151201435
|
0.00001
|
|
NM_001232.4(CASQ2):c.492C>T (p.Tyr164=)
|
rs886038422
|
0.00001
|
|
NM_001232.4(CASQ2):c.495C>T (p.Ile165=)
|
rs1447782106
|
0.00001
|
|
NM_001232.4(CASQ2):c.501C>G (p.Leu167=)
|
rs146051391
|
0.00001
|
|
NM_001232.4(CASQ2):c.518G>T (p.Ser173Ile)
|
rs786205790
|
0.00001
|
|
NM_001232.4(CASQ2):c.533-12T>G
|
rs774246167
|
0.00001
|
|
NM_001232.4(CASQ2):c.533-15T>C
|
rs370268584
|
0.00001
|
|
NM_001232.4(CASQ2):c.533-20A>G
|
rs760173068
|
0.00001
|
|
NM_001232.4(CASQ2):c.576C>A (p.Tyr192Ter)
|
rs758748280
|
0.00001
|
|
NM_001232.4(CASQ2):c.606+7_606+9del
|
rs752653901
|
0.00001
|
|
NM_001232.4(CASQ2):c.615G>T (p.Lys205Asn)
|
rs758082383
|
0.00001
|
|
NM_001232.4(CASQ2):c.645C>T (p.Asp215=)
|
rs1320292050
|
0.00001
|
|
NM_001232.4(CASQ2):c.702A>G (p.Glu234=)
|
rs756693726
|
0.00001
|
|
NM_001232.4(CASQ2):c.711G>T (p.Leu237=)
|
rs777363402
|
0.00001
|
|
NM_001232.4(CASQ2):c.737+19G>C
|
rs761915819
|
0.00001
|
|
NM_001232.4(CASQ2):c.738-19T>C
|
rs759948112
|
0.00001
|
|
NM_001232.4(CASQ2):c.759C>T (p.Arg253=)
|
rs1210277732
|
0.00001
|
|
NM_001232.4(CASQ2):c.783G>A (p.Trp261Ter)
|
rs776874142
|
0.00001
|
|
NM_001232.4(CASQ2):c.784-11T>G
|
rs761150514
|
0.00001
|
|
NM_001232.4(CASQ2):c.784-19T>C
|
rs765442639
|
0.00001
|
|
NM_001232.4(CASQ2):c.793T>G (p.Leu265Val)
|
rs772419873
|
0.00001
|
|
NM_001232.4(CASQ2):c.839-2A>G
|
rs1338756025
|
0.00001
|
|
NM_001232.4(CASQ2):c.83A>G (p.Tyr28Cys)
|
rs1230753325
|
0.00001
|
|
NM_001232.4(CASQ2):c.846C>T (p.Tyr282=)
|
rs764692110
|
0.00001
|
|
NM_001232.4(CASQ2):c.862C>G (p.Leu288Val)
|
rs772096506
|
0.00001
|
|
NM_001232.4(CASQ2):c.877C>T (p.Arg293Trp)
|
rs201306936
|
0.00001
|
|
NM_001232.4(CASQ2):c.884A>G (p.Asn295Ser)
|
rs781565627
|
0.00001
|
|
NM_001232.4(CASQ2):c.903G>A (p.Leu301=)
|
rs1350273999
|
0.00001
|
|
NM_001232.4(CASQ2):c.912G>A (p.Leu304=)
|
rs146074006
|
0.00001
|
|
NM_001232.4(CASQ2):c.939+1G>T
|
rs905985075
|
0.00001
|
|
NM_001232.4(CASQ2):c.957G>A (p.Glu319=)
|
rs758803168
|
0.00001
|
|
NM_001232.4(CASQ2):c.971T>C (p.Ile324Thr)
|
rs369403991
|
0.00001
|
|
NM_001232.4(CASQ2):c.98G>A (p.Arg33Gln)
|
rs749547712
|
0.00001
|
|
NM_001267550.2(TTN):c.56963-3C>T
|
rs375979145
|
0.00001
|
|
NM_001267550.2(TTN):c.68827G>T (p.Ala22943Ser)
|
rs878941853
|
0.00001
|
|
NM_001792.5(CDH2):c.1100C>T (p.Thr367Met)
|
rs200933425
|
0.00001
|
|
NM_001943.4(DSG2):c.-144G>A
|
rs1478833586
|
0.00001
|
|
NM_001943.4(DSG2):c.-178G>A
|
rs1367107745
|
0.00001
|
|
NM_001943.5(DSG2):c.*599_*600del
|
rs1491095224
|
0.00001
|
|
NM_001943.5(DSG2):c.*666G>T
|
rs1475926412
|
0.00001
|
|
NM_001943.5(DSG2):c.1000G>A (p.Val334Met)
|
rs761360851
|
0.00001
|
|
NM_001943.5(DSG2):c.1013A>T (p.Lys338Met)
|
rs1454000095
|
0.00001
|
|
NM_001943.5(DSG2):c.1014+1G>A
|
rs587782939
|
0.00001
|
|
NM_001943.5(DSG2):c.1017A>G (p.Glu339=)
|
rs1325947416
|
0.00001
|
|
NM_001943.5(DSG2):c.1045G>A (p.Asp349Asn)
|
rs754281384
|
0.00001
|
|
NM_001943.5(DSG2):c.1056T>A (p.Val352=)
|
rs969901158
|
0.00001
|
|
NM_001943.5(DSG2):c.1072G>A (p.Ala358Thr)
|
rs758537946
|
0.00001
|
|
NM_001943.5(DSG2):c.108G>A (p.Lys36=)
|
rs761947230
|
0.00001
|
|
NM_001943.5(DSG2):c.1105A>G (p.Lys369Glu)
|
rs727505208
|
0.00001
|
|
NM_001943.5(DSG2):c.1106A>T (p.Lys369Met)
|
rs375740419
|
0.00001
|
|
NM_001943.5(DSG2):c.1109C>G (p.Pro370Arg)
|
rs1555627121
|
0.00001
|
|
NM_001943.5(DSG2):c.1116C>G (p.Pro372=)
|
rs542079618
|
0.00001
|
|
NM_001943.5(DSG2):c.1163T>G (p.Phe388Cys)
|
rs369214871
|
0.00001
|
|
NM_001943.5(DSG2):c.1173C>T (p.Ser391=)
|
rs763242004
|
0.00001
|
|
NM_001943.5(DSG2):c.1209A>G (p.Arg403=)
|
rs1467727719
|
0.00001
|
|
NM_001943.5(DSG2):c.1251T>C (p.Asp417=)
|
rs942476545
|
0.00001
|
|
NM_001943.5(DSG2):c.1280+8A>G
|
rs377662063
|
0.00001
|
|
NM_001943.5(DSG2):c.1281-16G>T
|
rs756914573
|
0.00001
|
|
NM_001943.5(DSG2):c.1281A>G (p.Arg427=)
|
rs370547219
|
0.00001
|
|
NM_001943.5(DSG2):c.1281A>T (p.Arg427Ser)
|
rs370547219
|
0.00001
|
|
NM_001943.5(DSG2):c.1284T>C (p.Tyr428=)
|
rs202095254
|
0.00001
|
|
NM_001943.5(DSG2):c.128A>G (p.His43Arg)
|
rs370922106
|
0.00001
|
|
NM_001943.5(DSG2):c.1292T>C (p.Leu431Ser)
|
rs540113579
|
0.00001
|
|
NM_001943.5(DSG2):c.1304A>G (p.Asp435Gly)
|
rs767684377
|
0.00001
|
|
NM_001943.5(DSG2):c.1308T>A (p.Asn436Lys)
|
rs1163162410
|
0.00001
|
|
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln)
|
rs121913008
|
0.00001
|
|
NM_001943.5(DSG2):c.1434A>G (p.Arg478=)
|
rs755732646
|
0.00001
|
|
NM_001943.5(DSG2):c.1439C>T (p.Thr480Ile)
|
rs1598819592
|
0.00001
|
|
NM_001943.5(DSG2):c.1441A>G (p.Ile481Val)
|
rs368419383
|
0.00001
|
|
NM_001943.5(DSG2):c.1458T>C (p.Leu486=)
|
rs779518495
|
0.00001
|
|
NM_001943.5(DSG2):c.145C>T (p.Arg49Cys)
|
rs762526848
|
0.00001
|
|
NM_001943.5(DSG2):c.1460T>G (p.Ile487Ser)
|
rs776525113
|
0.00001
|
|
NM_001943.5(DSG2):c.1466T>C (p.Val489Ala)
|
rs748619993
|
0.00001
|
|
NM_001943.5(DSG2):c.1479C>T (p.Asn493=)
|
rs778100657
|
0.00001
|
|
NM_001943.5(DSG2):c.1484A>G (p.Asn495Ser)
|
rs1343972091
|
0.00001
|
|
NM_001943.5(DSG2):c.1489C>A (p.Pro497Thr)
|
rs1293179210
|
0.00001
|
|
NM_001943.5(DSG2):c.1499T>C (p.Ile500Thr)
|
rs769741655
|
0.00001
|
|
NM_001943.5(DSG2):c.1520G>A (p.Cys507Tyr)
|
rs121913009
|
0.00001
|
|
NM_001943.5(DSG2):c.1525G>A (p.Asp509Asn)
|
rs753406968
|
0.00001
|
|
NM_001943.5(DSG2):c.1533G>A (p.Glu511=)
|
rs754553761
|
0.00001
|
|
NM_001943.5(DSG2):c.1537G>A (p.Val513Met)
|
rs1325342385
|
0.00001
|
|
NM_001943.5(DSG2):c.1562A>G (p.Asp521Gly)
|
rs730880077
|
0.00001
|
|
NM_001943.5(DSG2):c.1592T>G (p.Phe531Cys)
|
rs200484060
|
0.00001
|
|
NM_001943.5(DSG2):c.1596C>T (p.Ser532=)
|
rs775653162
|
0.00001
|
|
NM_001943.5(DSG2):c.159C>T (p.Thr53=)
|
rs959566645
|
0.00001
|
|
NM_001943.5(DSG2):c.160G>A (p.Ala54Thr)
|
rs549421694
|
0.00001
|
|
NM_001943.5(DSG2):c.1612C>T (p.Pro538Ser)
|
rs766053352
|
0.00001
|
|
NM_001943.5(DSG2):c.1622C>G (p.Ala541Gly)
|
rs764745535
|
0.00001
|
|
NM_001943.5(DSG2):c.1624G>C (p.Glu542Gln)
|
rs376784940
|
0.00001
|
|
NM_001943.5(DSG2):c.1633A>C (p.Lys545Gln)
|
rs544175105
|
0.00001
|
|
NM_001943.5(DSG2):c.164C>T (p.Pro55Leu)
|
rs748684045
|
0.00001
|
|
NM_001943.5(DSG2):c.1652-5T>A
|
rs750711733
|
0.00001
|
|
NM_001943.5(DSG2):c.1652-8C>T
|
rs770497608
|
0.00001
|
|
NM_001943.5(DSG2):c.1750C>T (p.Gln584Ter)
|
rs794728086
|
0.00001
|
|
NM_001943.5(DSG2):c.1754T>G (p.Val585Gly)
|
rs1226887053
|
0.00001
|
|
NM_001943.5(DSG2):c.1758T>C (p.Leu586=)
|
rs773812422
|
0.00001
|
|
NM_001943.5(DSG2):c.176G>A (p.Arg59Gln)
|
rs768794560
|
0.00001
|
|
NM_001943.5(DSG2):c.1784A>G (p.His595Arg)
|
rs371326860
|
0.00001
|
|
NM_001943.5(DSG2):c.1791C>T (p.Ser597=)
|
rs768167385
|
0.00001
|
|
NM_001943.5(DSG2):c.1814A>T (p.Asp605Val)
|
rs761157959
|
0.00001
|
|
NM_001943.5(DSG2):c.1821T>C (p.Tyr607=)
|
rs1230368091
|
0.00001
|
|
NM_001943.5(DSG2):c.1826G>T (p.Gly609Val)
|
rs754168863
|
0.00001
|
|
NM_001943.5(DSG2):c.1829T>C (p.Leu610Pro)
|
rs755196345
|
0.00001
|
|
NM_001943.5(DSG2):c.1831G>A (p.Gly611Arg)
|
rs779056577
|
0.00001
|
|
NM_001943.5(DSG2):c.1836C>T (p.Pro612=)
|
rs374288967
|
0.00001
|
|
NM_001943.5(DSG2):c.1843A>G (p.Ile615Val)
|
rs794728087
|
0.00001
|
|
NM_001943.5(DSG2):c.1880-11T>C
|
rs779853197
|
0.00001
|
|
NM_001943.5(DSG2):c.1880-3C>T
|
rs2073264462
|
0.00001
|
|
NM_001943.5(DSG2):c.1880-6G>A
|
rs1264314764
|
0.00001
|
|
NM_001943.5(DSG2):c.1921G>A (p.Ala641Thr)
|
rs1445203397
|
0.00001
|
|
NM_001943.5(DSG2):c.192G>A (p.Leu64=)
|
rs1377946410
|
0.00001
|
|
NM_001943.5(DSG2):c.1947C>T (p.Gly649=)
|
rs1331421711
|
0.00001
|
|
NM_001943.5(DSG2):c.1957A>T (p.Met653Leu)
|
rs1382682032
|
0.00001
|
|
NM_001943.5(DSG2):c.1996G>C (p.Asp666His)
|
rs771623047
|
0.00001
|
|
NM_001943.5(DSG2):c.2001+3C>G
|
rs746471051
|
0.00001
|
|
NM_001943.5(DSG2):c.2010A>G (p.Pro670=)
|
rs777621113
|
0.00001
|
|
NM_001943.5(DSG2):c.2035G>A (p.Gly679Ser)
|
rs756896076
|
0.00001
|
|
NM_001943.5(DSG2):c.2068A>G (p.Met690Val)
|
rs1453554024
|
0.00001
|
|
NM_001943.5(DSG2):c.2074A>G (p.Lys692Glu)
|
rs997161591
|
0.00001
|
|
NM_001943.5(DSG2):c.2110A>G (p.Ile704Val)
|
rs141388237
|
0.00001
|
|
NM_001943.5(DSG2):c.2111T>C (p.Ile704Thr)
|
rs759420598
|
0.00001
|
|
NM_001943.5(DSG2):c.2136C>T (p.Ser712=)
|
rs762885119
|
0.00001
|
|
NM_001943.5(DSG2):c.2203G>A (p.Ala735Thr)
|
rs1179912383
|
0.00001
|
|
NM_001943.5(DSG2):c.2215A>G (p.Ile739Val)
|
rs772240008
|
0.00001
|
|
NM_001943.5(DSG2):c.222T>C (p.His74=)
|
rs367797047
|
0.00001
|
|
NM_001943.5(DSG2):c.2252C>T (p.Thr751Ile)
|
rs727502989
|
0.00001
|
|
NM_001943.5(DSG2):c.2274C>T (p.Ala758=)
|
rs778950229
|
0.00001
|
|
NM_001943.5(DSG2):c.2334+18G>T
|
rs367606402
|
0.00001
|
|
NM_001943.5(DSG2):c.2335-8C>G
|
rs561964101
|
0.00001
|
|
NM_001943.5(DSG2):c.2335-9T>C
|
rs757355636
|
0.00001
|
|
NM_001943.5(DSG2):c.233C>A (p.Ala78Glu)
|
rs769649528
|
0.00001
|
|
NM_001943.5(DSG2):c.2375_2379dup (p.Asp794fs)
|
rs773328409
|
0.00001
|
|
NM_001943.5(DSG2):c.2397T>C (p.Tyr799=)
|
rs200201181
|
0.00001
|
|
NM_001943.5(DSG2):c.2399C>G (p.Ser800Cys)
|
rs794728090
|
0.00001
|
|
NM_001943.5(DSG2):c.2418G>A (p.Ser806=)
|
rs751831001
|
0.00001
|
|
NM_001943.5(DSG2):c.2420T>C (p.Leu807Pro)
|
rs1384172051
|
0.00001
|
|
NM_001943.5(DSG2):c.2424T>C (p.Asn808=)
|
rs1288711942
|
0.00001
|
|
NM_001943.5(DSG2):c.2436T>C (p.Gly812=)
|
rs551487195
|
0.00001
|
|
NM_001943.5(DSG2):c.2442C>T (p.Cys814=)
|
rs1394059699
|
0.00001
|
|
NM_001943.5(DSG2):c.2491C>T (p.Leu831Phe)
|
rs763547599
|
0.00001
|
|
NM_001943.5(DSG2):c.2498T>G (p.Phe833Cys)
|
rs2073302543
|
0.00001
|
|
NM_001943.5(DSG2):c.2525G>A (p.Gly842Asp)
|
rs374177723
|
0.00001
|
|
NM_001943.5(DSG2):c.2534T>C (p.Ile845Thr)
|
rs1303479214
|
0.00001
|
|
NM_001943.5(DSG2):c.2538T>C (p.Asp846=)
|
rs755061815
|
0.00001
|
|
NM_001943.5(DSG2):c.2558A>G (p.Gln853Arg)
|
rs1567934468
|
0.00001
|
|
NM_001943.5(DSG2):c.2583A>G (p.Thr861=)
|
rs774775322
|
0.00001
|
|
NM_001943.5(DSG2):c.2589G>A (p.Met863Ile)
|
rs375955157
|
0.00001
|
|
NM_001943.5(DSG2):c.2614G>C (p.Glu872Gln)
|
rs754057911
|
0.00001
|
|
NM_001943.5(DSG2):c.2628T>C (p.Val876=)
|
rs775842543
|
0.00001
|
|
NM_001943.5(DSG2):c.2642C>T (p.Thr881Ile)
|
rs760786694
|
0.00001
|
|
NM_001943.5(DSG2):c.2648C>T (p.Ser883Phe)
|
rs371498622
|
0.00001
|
|
NM_001943.5(DSG2):c.2679T>C (p.Ser893=)
|
rs1432407239
|
0.00001
|
|
NM_001943.5(DSG2):c.2681T>G (p.Leu894Trp)
|
rs759746836
|
0.00001
|
|
NM_001943.5(DSG2):c.2690C>A (p.Ala897Asp)
|
rs765238150
|
0.00001
|
|
NM_001943.5(DSG2):c.2691C>G (p.Ala897=)
|
rs576107985
|
0.00001
|
|
NM_001943.5(DSG2):c.269C>T (p.Thr90Ile)
|
rs772744115
|
0.00001
|
|
NM_001943.5(DSG2):c.2710C>G (p.Gln904Glu)
|
rs372335085
|
0.00001
|
|
NM_001943.5(DSG2):c.2713G>A (p.Glu905Lys)
|
rs1156468696
|
0.00001
|
|
NM_001943.5(DSG2):c.2716A>G (p.Ile906Val)
|
rs748894535
|
0.00001
|
|
NM_001943.5(DSG2):c.2729G>T (p.Arg910Ile)
|
rs778488673
|
0.00001
|
|
NM_001943.5(DSG2):c.2741C>G (p.Ser914Cys)
|
rs771214695
|
0.00001
|
|
NM_001943.5(DSG2):c.2742T>C (p.Ser914=)
|
rs529198523
|
0.00001
|
|
NM_001943.5(DSG2):c.2750C>T (p.Ala917Val)
|
rs775670183
|
0.00001
|
|
NM_001943.5(DSG2):c.2751G>A (p.Ala917=)
|
rs763063602
|
0.00001
|
|
NM_001943.5(DSG2):c.2753A>G (p.Gln918Arg)
|
rs1367277603
|
0.00001
|
|
NM_001943.5(DSG2):c.2754A>G (p.Gln918=)
|
rs764157519
|
0.00001
|
|
NM_001943.5(DSG2):c.2768C>G (p.Pro923Arg)
|
rs1408093009
|
0.00001
|
|
NM_001943.5(DSG2):c.2797G>A (p.Val933Met)
|
rs373055076
|
0.00001
|
|
NM_001943.5(DSG2):c.2802A>G (p.Ile934Met)
|
rs368584610
|
0.00001
|
|
NM_001943.5(DSG2):c.2807C>T (p.Thr936Ile)
|
rs1221413592
|
0.00001
|
|
NM_001943.5(DSG2):c.2813C>A (p.Thr938Asn)
|
rs919875624
|
0.00001
|
|
NM_001943.5(DSG2):c.287A>T (p.Glu96Val)
|
rs2073123571
|
0.00001
|
|
NM_001943.5(DSG2):c.2908C>T (p.Pro970Ser)
|
rs758058872
|
0.00001
|
|
NM_001943.5(DSG2):c.2953G>A (p.Val985Ile)
|
rs749540432
|
0.00001
|
|
NM_001943.5(DSG2):c.296T>A (p.Phe99Tyr)
|
rs1275376903
|
0.00001
|
|
NM_001943.5(DSG2):c.297T>C (p.Phe99=)
|
rs1045965107
|
0.00001
|
|
NM_001943.5(DSG2):c.2987G>A (p.Gly996Glu)
|
rs1567934945
|
0.00001
|
|
NM_001943.5(DSG2):c.298G>C (p.Gly100Arg)
|
rs754405184
|
0.00001
|
|
NM_001943.5(DSG2):c.2991T>A (p.Gly997=)
|
rs765129273
|
0.00001
|
|
NM_001943.5(DSG2):c.3013A>G (p.Thr1005Ala)
|
rs1386679487
|
0.00001
|
|
NM_001943.5(DSG2):c.3044T>C (p.Met1015Thr)
|
rs886053716
|
0.00001
|
|
NM_001943.5(DSG2):c.3086T>C (p.Val1029Ala)
|
rs769806198
|
0.00001
|
|
NM_001943.5(DSG2):c.308T>C (p.Val103Ala)
|
rs876657790
|
0.00001
|
|
NM_001943.5(DSG2):c.3101C>T (p.Ala1034Val)
|
rs762885186
|
0.00001
|
|
NM_001943.5(DSG2):c.3137T>C (p.Val1046Ala)
|
rs2073312094
|
0.00001
|
|
NM_001943.5(DSG2):c.31C>T (p.Leu11=)
|
rs1220091298
|
0.00001
|
|
NM_001943.5(DSG2):c.3205A>G (p.Met1069Val)
|
rs1024370144
|
0.00001
|
|
NM_001943.5(DSG2):c.3224C>T (p.Thr1075Met)
|
rs943749481
|
0.00001
|
|
NM_001943.5(DSG2):c.3279T>C (p.Ser1093=)
|
rs758768074
|
0.00001
|
|
NM_001943.5(DSG2):c.3309T>C (p.Ser1103=)
|
rs1195224927
|
0.00001
|
|
NM_001943.5(DSG2):c.3340C>G (p.Gln1114Glu)
|
rs776078563
|
0.00001
|
|
NM_001943.5(DSG2):c.3354C>G (p.Ser1118=)
|
rs879254344
|
0.00001
|
|
NM_001943.5(DSG2):c.355C>T (p.Arg119Ter)
|
rs753052874
|
0.00001
|
|
NM_001943.5(DSG2):c.379-1G>A
|
rs1472037685
|
0.00001
|
|
NM_001943.5(DSG2):c.379-4T>C
|
rs753141182
|
0.00001
|
|
NM_001943.5(DSG2):c.391G>A (p.Ala131Thr)
|
rs373542380
|
0.00001
|
|
NM_001943.5(DSG2):c.3G>A (p.Met1Ile)
|
rs1021457619
|
0.00001
|
|
NM_001943.5(DSG2):c.445G>A (p.Val149Ile)
|
rs372606274
|
0.00001
|
|
NM_001943.5(DSG2):c.447T>C (p.Val149=)
|
rs1389484271
|
0.00001
|
|
NM_001943.5(DSG2):c.45+19A>G
|
rs764211843
|
0.00001
|
|
NM_001943.5(DSG2):c.458A>G (p.Asn153Ser)
|
rs375597675
|
0.00001
|
|
NM_001943.5(DSG2):c.46-11T>C
|
rs757891590
|
0.00001
|
|
NM_001943.5(DSG2):c.46-3C>T
|
rs777302616
|
0.00001
|
|
NM_001943.5(DSG2):c.465C>T (p.Asn155=)
|
rs751814575
|
0.00001
|
|
NM_001943.5(DSG2):c.466G>A (p.Glu156Lys)
|
rs566251077
|
0.00001
|
|
NM_001943.5(DSG2):c.46A>G (p.Ile16Val)
|
rs376660601
|
0.00001
|
|
NM_001943.5(DSG2):c.470C>T (p.Pro157Leu)
|
rs587782938
|
0.00001
|
|
NM_001943.5(DSG2):c.511T>C (p.Leu171=)
|
rs1271440899
|
0.00001
|
|
NM_001943.5(DSG2):c.523+2T>C
|
rs397516709
|
0.00001
|
|
NM_001943.5(DSG2):c.536T>C (p.Met179Thr)
|
rs753854046
|
0.00001
|
|
NM_001943.5(DSG2):c.561T>C (p.Asp187=)
|
rs573318445
|
0.00001
|
|
NM_001943.5(DSG2):c.562G>A (p.Glu188Lys)
|
rs763948986
|
0.00001
|
|
NM_001943.5(DSG2):c.581C>T (p.Ser194Leu)
|
rs374875442
|
0.00001
|
|
NM_001943.5(DSG2):c.582G>A (p.Ser194=)
|
rs748768578
|
0.00001
|
|
NM_001943.5(DSG2):c.58G>A (p.Val20Ile)
|
rs746192055
|
0.00001
|
|
NM_001943.5(DSG2):c.613C>T (p.Pro205Ser)
|
rs200946320
|
0.00001
|
|
NM_001943.5(DSG2):c.624T>G (p.Pro208=)
|
rs1275487240
|
0.00001
|
|
NM_001943.5(DSG2):c.633C>T (p.Phe211=)
|
rs2073132518
|
0.00001
|
|
NM_001943.5(DSG2):c.648T>C (p.Asp216=)
|
rs1235715453
|
0.00001
|
|
NM_001943.5(DSG2):c.653G>A (p.Gly218Glu)
|
rs794728082
|
0.00001
|
|
NM_001943.5(DSG2):c.677C>T (p.Thr226Ile)
|
rs751490881
|
0.00001
|
|
NM_001943.5(DSG2):c.690+12T>C
|
rs779806555
|
0.00001
|
|
NM_001943.5(DSG2):c.690+1G>A
|
rs750176752
|
0.00001
|
|
NM_001943.5(DSG2):c.690G>A (p.Glu230=)
|
rs767433640
|
0.00001
|
|
NM_001943.5(DSG2):c.693A>G (p.Glu231=)
|
rs775582591
|
0.00001
|
|
NM_001943.5(DSG2):c.713C>T (p.Thr238Ile)
|
rs767523704
|
0.00001
|
|
NM_001943.5(DSG2):c.720A>G (p.Glu240=)
|
rs756024562
|
0.00001
|
|
NM_001943.5(DSG2):c.770A>G (p.Gln257Arg)
|
rs765118809
|
0.00001
|
|
NM_001943.5(DSG2):c.782G>A (p.Arg261His)
|
rs727502984
|
0.00001
|
|
NM_001943.5(DSG2):c.789G>A (p.Leu263=)
|
rs1389678806
|
0.00001
|
|
NM_001943.5(DSG2):c.792T>A (p.Asp264Glu)
|
rs869025388
|
0.00001
|
|
NM_001943.5(DSG2):c.795C>G (p.Val265=)
|
rs771324254
|
0.00001
|
|
NM_001943.5(DSG2):c.81+10C>T
|
rs764150806
|
0.00001
|
|
NM_001943.5(DSG2):c.81+7A>G
|
rs763204534
|
0.00001
|
|
NM_001943.5(DSG2):c.813A>G (p.Val271=)
|
rs769992634
|
0.00001
|
|
NM_001943.5(DSG2):c.82-1G>A
|
rs746353565
|
0.00001
|
|
NM_001943.5(DSG2):c.82-3T>C
|
rs370099811
|
0.00001
|
|
NM_001943.5(DSG2):c.828+5C>T
|
rs373286117
|
0.00001
|
|
NM_001943.5(DSG2):c.829-18T>C
|
rs1014175452
|
0.00001
|
|
NM_001943.5(DSG2):c.829-5T>C
|
rs373438324
|
0.00001
|
|
NM_001943.5(DSG2):c.872C>T (p.Thr291Met)
|
rs774563205
|
0.00001
|
|
NM_001943.5(DSG2):c.874C>T (p.Arg292Cys)
|
rs770921270
|
0.00001
|
|
NM_001943.5(DSG2):c.880A>G (p.Lys294Glu)
|
rs752432726
|
0.00001
|
|
NM_001943.5(DSG2):c.884T>C (p.Val295Ala)
|
rs762588785
|
0.00001
|
|
NM_001943.5(DSG2):c.889G>A (p.Asp297Asn)
|
rs751012696
|
0.00001
|
|
NM_001943.5(DSG2):c.902T>C (p.Ile301Thr)
|
rs1370553229
|
0.00001
|
|
NM_001943.5(DSG2):c.908C>T (p.Ser303Phe)
|
rs757792714
|
0.00001
|
|
NM_001943.5(DSG2):c.939A>C (p.Ala313=)
|
rs1191660971
|
0.00001
|
|
NM_001943.5(DSG2):c.942A>G (p.Ser314=)
|
rs780279875
|
0.00001
|
|
NM_001943.5(DSG2):c.990C>T (p.Asn330=)
|
rs140575919
|
0.00001
|
|
NM_001943.5(DSG2):c.996A>G (p.Gly332=)
|
rs1568106929
|
0.00001
|
|
NM_001943.5(DSG2):c.998T>C (p.Ile333Thr)
|
rs773871942
|
0.00001
|
|
NM_002230.4(JUP):c.*436G>A
|
rs886052915
|
0.00001
|
|
NM_002230.4(JUP):c.100G>A (p.Val34Met)
|
rs794729029
|
0.00001
|
|
NM_002230.4(JUP):c.1017C>T (p.Ser339=)
|
rs782357007
|
0.00001
|
|
NM_002230.4(JUP):c.1055-12T>A
|
rs782667212
|
0.00001
|
|
NM_002230.4(JUP):c.1055-8T>C
|
rs1394581499
|
0.00001
|
|
NM_002230.4(JUP):c.1059G>A (p.Gly353=)
|
rs782648533
|
0.00001
|
|
NM_002230.4(JUP):c.1069C>G (p.Leu357Val)
|
rs1455055075
|
0.00001
|
|
NM_002230.4(JUP):c.107C>T (p.Ser36Phe)
|
rs1555607036
|
0.00001
|
|
NM_002230.4(JUP):c.1080C>T (p.His360=)
|
rs1406214813
|
0.00001
|
|
NM_002230.4(JUP):c.108C>T (p.Ser36=)
|
rs371142035
|
0.00001
|
|
NM_002230.4(JUP):c.1096C>A (p.Pro366Thr)
|
rs782690097
|
0.00001
|
|
NM_002230.4(JUP):c.1096C>G (p.Pro366Ala)
|
rs782690097
|
0.00001
|
|
NM_002230.4(JUP):c.1100G>T (p.Arg367Leu)
|
rs782067441
|
0.00001
|
|
NM_002230.4(JUP):c.1125C>T (p.Thr375=)
|
rs782108002
|
0.00001
|
|
NM_002230.4(JUP):c.1128G>A (p.Leu376=)
|
rs781926392
|
0.00001
|
|
NM_002230.4(JUP):c.1129C>A (p.Arg377Ser)
|
rs368564000
|
0.00001
|
|
NM_002230.4(JUP):c.1158+10G>T
|
rs199917743
|
0.00001
|
|
NM_002230.4(JUP):c.1158+2_1158+4dup
|
rs782280458
|
0.00001
|
|
NM_002230.4(JUP):c.1165C>T (p.Leu389=)
|
rs1057523570
|
0.00001
|
|
NM_002230.4(JUP):c.1204G>A (p.Val402Met)
|
rs782241125
|
0.00001
|
|
NM_002230.4(JUP):c.1213G>A (p.Val405Ile)
|
rs200019016
|
0.00001
|
|
NM_002230.4(JUP):c.1236G>A (p.Thr412=)
|
rs376391674
|
0.00001
|
|
NM_002230.4(JUP):c.1262A>G (p.Asn421Ser)
|
rs782135453
|
0.00001
|
|
NM_002230.4(JUP):c.1299C>T (p.Ser433=)
|
rs376345105
|
0.00001
|
|
NM_002230.4(JUP):c.1300G>A (p.Gly434Ser)
|
rs1555602250
|
0.00001
|
|
NM_002230.4(JUP):c.1308G>T (p.Glu436Asp)
|
rs782594495
|
0.00001
|
|
NM_002230.4(JUP):c.1327C>T (p.Leu443=)
|
rs140537908
|
0.00001
|
|
NM_002230.4(JUP):c.1330C>T (p.Arg444Cys)
|
rs781793865
|
0.00001
|
|
NM_002230.4(JUP):c.1333G>C (p.Ala445Pro)
|
rs782465430
|
0.00001
|
|
NM_002230.4(JUP):c.1336G>T (p.Gly446Cys)
|
rs781876461
|
0.00001
|
|
NM_002230.4(JUP):c.1347C>T (p.Asp449=)
|
rs763261901
|
0.00001
|
|
NM_002230.4(JUP):c.1355C>T (p.Thr452Met)
|
rs781888888
|
0.00001
|
|
NM_002230.4(JUP):c.136G>A (p.Asp46Asn)
|
rs782308879
|
0.00001
|
|
NM_002230.4(JUP):c.1378C>T (p.Arg460Cys)
|
rs782575391
|
0.00001
|
|
NM_002230.4(JUP):c.1380C>T (p.Arg460=)
|
rs782212737
|
0.00001
|
|
NM_002230.4(JUP):c.1391G>A (p.Ser464Asn)
|
rs1060502681
|
0.00001
|
|
NM_002230.4(JUP):c.1394G>A (p.Arg465His)
|
rs369486398
|
0.00001
|
|
NM_002230.4(JUP):c.1400C>T (p.Pro467Leu)
|
rs782667501
|
0.00001
|
|
NM_002230.4(JUP):c.1470C>T (p.Asn490=)
|
rs149248322
|
0.00001
|
|
NM_002230.4(JUP):c.1500A>T (p.Ala500=)
|
rs869025443
|
0.00001
|
|
NM_002230.4(JUP):c.1506C>T (p.Ile502=)
|
rs372963143
|
0.00001
|
|
NM_002230.4(JUP):c.151C>T (p.Arg51Cys)
|
rs782254006
|
0.00001
|
|
NM_002230.4(JUP):c.152G>A (p.Arg51His)
|
rs571707598
|
0.00001
|
|
NM_002230.4(JUP):c.1551G>A (p.Pro517=)
|
rs988891105
|
0.00001
|
|
NM_002230.4(JUP):c.1555C>G (p.Gln519Glu)
|
rs139454583
|
0.00001
|
|
NM_002230.4(JUP):c.1566G>A (p.Ala522=)
|
rs547437428
|
0.00001
|
|
NM_002230.4(JUP):c.1576C>T (p.Arg526Cys)
|
rs782309611
|
0.00001
|
|
NM_002230.4(JUP):c.1586A>T (p.Gln529Leu)
|
rs1914310860
|
0.00001
|
|
NM_002230.4(JUP):c.1599G>A (p.Lys533=)
|
rs150699961
|
0.00001
|
|
NM_002230.4(JUP):c.1606C>G (p.Gln536Glu)
|
rs782683108
|
0.00001
|
|
NM_002230.4(JUP):c.160A>G (p.Thr54Ala)
|
rs781784933
|
0.00001
|
|
NM_002230.4(JUP):c.1619G>T (p.Arg540Leu)
|
rs376881608
|
0.00001
|
|
NM_002230.4(JUP):c.1623C>T (p.His541=)
|
rs782477974
|
0.00001
|
|
NM_002230.4(JUP):c.1624G>A (p.Val542Ile)
|
rs571375136
|
0.00001
|
|
NM_002230.4(JUP):c.1631C>T (p.Ala544Val)
|
rs782762751
|
0.00001
|
|
NM_002230.4(JUP):c.1652C>T (p.Thr551Met)
|
rs1038719021
|
0.00001
|
|
NM_002230.4(JUP):c.1667T>C (p.Met556Thr)
|
rs781884735
|
0.00001
|
|
NM_002230.4(JUP):c.1730G>A (p.Arg577His)
|
rs373434456
|
0.00001
|
|
NM_002230.4(JUP):c.1744C>T (p.Arg582Trp)
|
rs782205755
|
0.00001
|
|
NM_002230.4(JUP):c.1760C>T (p.Pro587Leu)
|
rs782490959
|
0.00001
|
|
NM_002230.4(JUP):c.1762C>T (p.Leu588=)
|
rs781900856
|
0.00001
|
|
NM_002230.4(JUP):c.1770G>A (p.Val590=)
|
rs782444566
|
0.00001
|
|
NM_002230.4(JUP):c.1774-16C>T
|
rs371727352
|
0.00001
|
|
NM_002230.4(JUP):c.1774-8C>T
|
rs781837434
|
0.00001
|
|
NM_002230.4(JUP):c.1780T>A (p.Tyr594Asn)
|
rs1555599033
|
0.00001
|
|
NM_002230.4(JUP):c.1785G>A (p.Ser595=)
|
rs782816522
|
0.00001
|
|
NM_002230.4(JUP):c.1787C>T (p.Ser596Leu)
|
rs940226194
|
0.00001
|
|
NM_002230.4(JUP):c.1805G>A (p.Arg602His)
|
rs909955430
|
0.00001
|
|
NM_002230.4(JUP):c.1815C>T (p.Ala605=)
|
rs543862977
|
0.00001
|
|
NM_002230.4(JUP):c.1851G>A (p.Ala617=)
|
rs1031612674
|
0.00001
|
|
NM_002230.4(JUP):c.1854C>T (p.Ala618=)
|
rs782176670
|
0.00001
|
|
NM_002230.4(JUP):c.1868C>G (p.Ala623Gly)
|
rs782760341
|
0.00001
|
|
NM_002230.4(JUP):c.1873G>C (p.Gly625Arg)
|
rs1060502678
|
0.00001
|
|
NM_002230.4(JUP):c.1876G>A (p.Ala626Thr)
|
rs782547688
|
0.00001
|
|
NM_002230.4(JUP):c.1883C>T (p.Ala628Val)
|
rs1475273502
|
0.00001
|
|
NM_002230.4(JUP):c.1885C>T (p.Pro629Ser)
|
rs1188860546
|
0.00001
|
|
NM_002230.4(JUP):c.1908C>T (p.Ser636=)
|
rs782122765
|
0.00001
|
|
NM_002230.4(JUP):c.1916A>G (p.Glu639Gly)
|
rs1914057795
|
0.00001
|
|
NM_002230.4(JUP):c.1920C>T (p.Gly640=)
|
rs376699725
|
0.00001
|
|
NM_002230.4(JUP):c.1924+14G>T
|
rs201959663
|
0.00001
|
|
NM_002230.4(JUP):c.1925-19T>G
|
rs545000698
|
0.00001
|
|
NM_002230.4(JUP):c.192G>A (p.Gly64=)
|
rs141237794
|
0.00001
|
|
NM_002230.4(JUP):c.1990G>A (p.Val664Met)
|
rs782695128
|
0.00001
|
|
NM_002230.4(JUP):c.200C>T (p.Pro67Leu)
|
rs1427489722
|
0.00001
|
|
NM_002230.4(JUP):c.2013C>T (p.Ser671=)
|
rs1326867934
|
0.00001
|
|
NM_002230.4(JUP):c.2060T>C (p.Ile687Thr)
|
rs1181838480
|
0.00001
|
|
NM_002230.4(JUP):c.2078A>G (p.Tyr693Cys)
|
rs782475413
|
0.00001
|
|
NM_002230.4(JUP):c.208+1G>A
|
rs373761090
|
0.00001
|
|
NM_002230.4(JUP):c.2084A>G (p.Asp695Gly)
|
rs781859850
|
0.00001
|
|
NM_002230.4(JUP):c.2086+18T>A
|
rs782095299
|
0.00001
|
|
NM_002230.4(JUP):c.2086+7G>C
|
rs727504940
|
0.00001
|
|
NM_002230.4(JUP):c.2087-5C>T
|
rs886052917
|
0.00001
|
|
NM_002230.4(JUP):c.209-12C>G
|
rs201194744
|
0.00001
|
|
NM_002230.4(JUP):c.209-8G>A
|
rs1165044090
|
0.00001
|
|
NM_002230.4(JUP):c.2099C>T (p.Thr700Ile)
|
rs1913627808
|
0.00001
|
|
NM_002230.4(JUP):c.210T>C (p.Gly70=)
|
rs782504602
|
0.00001
|
|
NM_002230.4(JUP):c.211G>T (p.Asp71Tyr)
|
rs781869872
|
0.00001
|
|
NM_002230.4(JUP):c.2121C>T (p.Ser707=)
|
rs1477036549
|
0.00001
|
|
NM_002230.4(JUP):c.2132T>C (p.Leu711Pro)
|
rs782096012
|
0.00001
|
|
NM_002230.4(JUP):c.2149C>G (p.His717Asp)
|
rs1347008405
|
0.00001
|
|
NM_002230.4(JUP):c.2179G>A (p.Asp727Asn)
|
rs1285789744
|
0.00001
|
|
NM_002230.4(JUP):c.2193C>T (p.Asp731=)
|
rs199683273
|
0.00001
|
|
NM_002230.4(JUP):c.21G>C (p.Met7Ile)
|
rs782076076
|
0.00001
|
|
NM_002230.4(JUP):c.250C>T (p.Arg84Trp)
|
rs782306414
|
0.00001
|
|
NM_002230.4(JUP):c.251G>A (p.Arg84Gln)
|
rs782061304
|
0.00001
|
|
NM_002230.4(JUP):c.252G>A (p.Arg84=)
|
rs1555605953
|
0.00001
|
|
NM_002230.4(JUP):c.256C>T (p.Arg86Trp)
|
rs782240305
|
0.00001
|
|
NM_002230.4(JUP):c.266T>C (p.Met89Thr)
|
rs542745694
|
0.00001
|
|
NM_002230.4(JUP):c.285C>T (p.Gly95=)
|
rs1555605900
|
0.00001
|
|
NM_002230.4(JUP):c.296C>T (p.Ser99Leu)
|
rs554046226
|
0.00001
|
|
NM_002230.4(JUP):c.311C>A (p.Thr104Asn)
|
rs1185864978
|
0.00001
|
|
NM_002230.4(JUP):c.315G>C (p.Gln105His)
|
rs375489362
|
0.00001
|
|
NM_002230.4(JUP):c.335A>G (p.Asn112Ser)
|
rs372364561
|
0.00001
|
|
NM_002230.4(JUP):c.343C>T (p.Arg115Ter)
|
rs782203227
|
0.00001
|
|
NM_002230.4(JUP):c.344G>A (p.Arg115Gln)
|
rs369722007
|
0.00001
|
|
NM_002230.4(JUP):c.346C>T (p.Leu116=)
|
rs147121864
|
0.00001
|
|
NM_002230.4(JUP):c.374C>T (p.Ser125Leu)
|
rs782527770
|
0.00001
|
|
NM_002230.4(JUP):c.406G>A (p.Asp136Asn)
|
rs782392706
|
0.00001
|
|
NM_002230.4(JUP):c.411C>T (p.Ala137=)
|
rs782089101
|
0.00001
|
|
NM_002230.4(JUP):c.414G>A (p.Glu138=)
|
rs370003514
|
0.00001
|
|
NM_002230.4(JUP):c.424C>T (p.Arg142Cys)
|
rs199591001
|
0.00001
|
|
NM_002230.4(JUP):c.469-12T>C
|
rs782699765
|
0.00001
|
|
NM_002230.4(JUP):c.469-16del
|
rs782421393
|
0.00001
|
|
NM_002230.4(JUP):c.485C>T (p.Ala162Val)
|
rs369121094
|
0.00001
|
|
NM_002230.4(JUP):c.494T>C (p.Ile165Thr)
|
rs1254146503
|
0.00001
|
|
NM_002230.4(JUP):c.525G>A (p.Ser175=)
|
rs782794110
|
0.00001
|
|
NM_002230.4(JUP):c.534C>T (p.Ala178=)
|
rs1916171269
|
0.00001
|
|
NM_002230.4(JUP):c.562G>A (p.Ala188Thr)
|
rs782585387
|
0.00001
|
|
NM_002230.4(JUP):c.571C>T (p.Arg191Cys)
|
rs781905238
|
0.00001
|
|
NM_002230.4(JUP):c.591C>T (p.Ser197=)
|
rs781813778
|
0.00001
|
|
NM_002230.4(JUP):c.592G>A (p.Asp198Asn)
|
rs782799529
|
0.00001
|
|
NM_002230.4(JUP):c.601A>G (p.Thr201Ala)
|
rs781999758
|
0.00001
|
|
NM_002230.4(JUP):c.628C>T (p.His210Tyr)
|
rs1567818128
|
0.00001
|
|
NM_002230.4(JUP):c.647G>A (p.Arg216Gln)
|
rs782498980
|
0.00001
|
|
NM_002230.4(JUP):c.648G>C (p.Arg216=)
|
rs781795344
|
0.00001
|
|
NM_002230.4(JUP):c.661G>A (p.Ala221Thr)
|
rs782076415
|
0.00001
|
|
NM_002230.4(JUP):c.674C>T (p.Ser225Leu)
|
rs782685734
|
0.00001
|
|
NM_002230.4(JUP):c.680G>A (p.Gly227Asp)
|
rs782010606
|
0.00001
|
|
NM_002230.4(JUP):c.697C>T (p.Arg233Cys)
|
rs529126058
|
0.00001
|
|
NM_002230.4(JUP):c.698G>A (p.Arg233His)
|
rs1304500107
|
0.00001
|
|
NM_002230.4(JUP):c.705C>T (p.Leu235=)
|
rs887639693
|
0.00001
|
|
NM_002230.4(JUP):c.707+5C>A
|
rs375580484
|
0.00001
|
|
NM_002230.4(JUP):c.707+7A>G
|
rs373101758
|
0.00001
|
|
NM_002230.4(JUP):c.708-12C>G
|
rs781970079
|
0.00001
|
|
NM_002230.4(JUP):c.708-7C>T
|
rs397517301
|
0.00001
|
|
NM_002230.4(JUP):c.71C>T (p.Ser24Leu)
|
rs782460555
|
0.00001
|
|
NM_002230.4(JUP):c.750G>A (p.Leu250=)
|
rs148381639
|
0.00001
|
|
NM_002230.4(JUP):c.764T>G (p.Leu255Arg)
|
rs878854482
|
0.00001
|
|
NM_002230.4(JUP):c.782A>G (p.Lys261Arg)
|
rs782527507
|
0.00001
|
|
NM_002230.4(JUP):c.788C>T (p.Ala263Val)
|
rs1287470595
|
0.00001
|
|
NM_002230.4(JUP):c.794G>A (p.Arg265His)
|
rs782440692
|
0.00001
|
|
NM_002230.4(JUP):c.807G>T (p.Gly269=)
|
rs781992518
|
0.00001
|
|
NM_002230.4(JUP):c.818T>C (p.Met273Thr)
|
rs782091454
|
0.00001
|
|
NM_002230.4(JUP):c.849G>T (p.Lys283Asn)
|
rs794729054
|
0.00001
|
|
NM_002230.4(JUP):c.868G>A (p.Asp290Asn)
|
rs982161216
|
0.00001
|
|
NM_002230.4(JUP):c.870C>T (p.Asp290=)
|
rs1915903703
|
0.00001
|
|
NM_002230.4(JUP):c.87C>T (p.Gly29=)
|
rs199530395
|
0.00001
|
|
NM_002230.4(JUP):c.884T>C (p.Leu295Pro)
|
rs1567815863
|
0.00001
|
|
NM_002230.4(JUP):c.88G>A (p.Ala30Thr)
|
rs782733459
|
0.00001
|
|
NM_002230.4(JUP):c.910-5C>T
|
rs1750432359
|
0.00001
|
|
NM_002230.4(JUP):c.928G>A (p.Gly310Ser)
|
rs1597808505
|
0.00001
|
|
NM_002230.4(JUP):c.936C>G (p.Pro312=)
|
rs375094290
|
0.00001
|
|
NM_002230.4(JUP):c.942C>T (p.Ala314=)
|
rs782573436
|
0.00001
|
|
NM_002230.4(JUP):c.946G>A (p.Val316Met)
|
rs782285849
|
0.00001
|
|
NM_002230.4(JUP):c.950A>T (p.Gln317Leu)
|
rs782509792
|
0.00001
|
|
NM_002230.4(JUP):c.967A>G (p.Ser323Gly)
|
rs781857323
|
0.00001
|
|
NM_002230.4(JUP):c.969T>C (p.Ser323=)
|
rs868945297
|
0.00001
|
|
NM_002230.4(JUP):c.990C>T (p.Thr330=)
|
rs1057521340
|
0.00001
|
|
NM_002230.4(JUP):c.997C>T (p.Arg333Cys)
|
rs782031185
|
0.00001
|
|
NM_003239.5(TGFB3):c.*495C>T
|
rs387906514
|
0.00001
|
|
NM_003239.5(TGFB3):c.230G>A (p.Arg77Gln)
|
rs1036545575
|
0.00001
|
|
NM_003239.5(TGFB3):c.294G>A (p.Ser98=)
|
rs778214495
|
0.00001
|
|
NM_003239.5(TGFB3):c.463C>T (p.Arg155Trp)
|
rs868258653
|
0.00001
|
|
NM_003239.5(TGFB3):c.487C>T (p.Arg163Trp)
|
rs142601521
|
0.00001
|
|
NM_003239.5(TGFB3):c.521T>A (p.Leu174His)
|
rs869025534
|
0.00001
|
|
NM_003239.5(TGFB3):c.580C>T (p.Arg194Trp)
|
rs368004396
|
0.00001
|
|
NM_003239.5(TGFB3):c.77C>G (p.Thr26Ser)
|
rs771543236
|
0.00001
|
|
NM_003239.5(TGFB3):c.82A>C (p.Thr28Pro)
|
rs564013964
|
0.00001
|
|
NM_003239.5(TGFB3):c.916T>C (p.Tyr306His)
|
rs1299759608
|
0.00001
|
|
NM_003239.5(TGFB3):c.965T>C (p.Ile322Thr)
|
rs762643638
|
0.00001
|
|
NM_004415.4(DSP):c.*112A>G
|
rs141059005
|
0.00001
|
|
NM_004415.4(DSP):c.*137T>C
|
rs756543548
|
0.00001
|
|
NM_004415.4(DSP):c.1012C>T (p.Leu338Phe)
|
rs774852168
|
0.00001
|
|
NM_004415.4(DSP):c.1016A>G (p.Asn339Ser)
|
rs746245682
|
0.00001
|
|
NM_004415.4(DSP):c.1044+11T>C
|
rs772511991
|
0.00001
|
|
NM_004415.4(DSP):c.1045-18G>A
|
rs1332704469
|
0.00001
|
|
NM_004415.4(DSP):c.1045-3C>T
|
rs765077011
|
0.00001
|
|
NM_004415.4(DSP):c.1051A>G (p.Met351Val)
|
rs1372435657
|
0.00001
|
|
NM_004415.4(DSP):c.1065G>A (p.Gln355=)
|
rs750289780
|
0.00001
|
|
NM_004415.4(DSP):c.106G>A (p.Gly36Ser)
|
rs1395509692
|
0.00001
|
|
NM_004415.4(DSP):c.1077T>C (p.Ser359=)
|
rs1179244955
|
0.00001
|
|
NM_004415.4(DSP):c.108C>T (p.Gly36=)
|
rs755510597
|
0.00001
|
|
NM_004415.4(DSP):c.1102A>T (p.Ile368Phe)
|
rs794728112
|
0.00001
|
|
NM_004415.4(DSP):c.111C>T (p.Thr37=)
|
rs727502995
|
0.00001
|
|
NM_004415.4(DSP):c.1136T>C (p.Phe379Ser)
|
rs1064795084
|
0.00001
|
|
NM_004415.4(DSP):c.1141-14C>T
|
rs1258179786
|
0.00001
|
|
NM_004415.4(DSP):c.117G>T (p.Arg39Ser)
|
rs748578019
|
0.00001
|
|
NM_004415.4(DSP):c.1197C>G (p.Ile399Met)
|
rs375828592
|
0.00001
|
|
NM_004415.4(DSP):c.120G>A (p.Met40Ile)
|
rs1377575571
|
0.00001
|
|
NM_004415.4(DSP):c.1225A>T (p.Met409Leu)
|
rs890837021
|
0.00001
|
|
NM_004415.4(DSP):c.1262T>C (p.Leu421Pro)
|
rs763523373
|
0.00001
|
|
NM_004415.4(DSP):c.1266+5C>T
|
rs1052624321
|
0.00001
|
|
NM_004415.4(DSP):c.1268A>G (p.Lys423Arg)
|
rs1175321093
|
0.00001
|
|
NM_004415.4(DSP):c.1274G>A (p.Arg425Gln)
|
rs397516916
|
0.00001
|
|
NM_004415.4(DSP):c.1279A>G (p.Lys427Glu)
|
rs1430756602
|
0.00001
|
|
NM_004415.4(DSP):c.1281A>G (p.Lys427=)
|
rs1758928792
|
0.00001
|
|
NM_004415.4(DSP):c.1283T>A (p.Ile428Asn)
|
rs760246407
|
0.00001
|
|
NM_004415.4(DSP):c.1291T>C (p.Tyr431His)
|
rs1039885114
|
0.00001
|
|
NM_004415.4(DSP):c.1297C>T (p.Arg433Cys)
|
rs767032884
|
0.00001
|
|
NM_004415.4(DSP):c.1323G>C (p.Lys441Asn)
|
rs1037212969
|
0.00001
|
|
NM_004415.4(DSP):c.136G>A (p.Gly46Ser)
|
rs371517189
|
0.00001
|
|
NM_004415.4(DSP):c.1378C>G (p.Pro460Ala)
|
rs749422119
|
0.00001
|
|
NM_004415.4(DSP):c.1383T>C (p.Ile461=)
|
rs1758933736
|
0.00001
|
|
NM_004415.4(DSP):c.1452G>A (p.Leu484=)
|
rs1413578599
|
0.00001
|
|
NM_004415.4(DSP):c.1468C>T (p.Arg490Cys)
|
rs781084693
|
0.00001
|
|
NM_004415.4(DSP):c.146C>G (p.Thr49Ser)
|
rs151153655
|
0.00001
|
|
NM_004415.4(DSP):c.1482C>T (p.Tyr494=)
|
rs772925425
|
0.00001
|
|
NM_004415.4(DSP):c.1502T>C (p.Val501Ala)
|
rs544017143
|
0.00001
|
|
NM_004415.4(DSP):c.1528C>T (p.Leu510=)
|
rs1019692996
|
0.00001
|
|
NM_004415.4(DSP):c.153G>A (p.Gln51=)
|
rs1450725914
|
0.00001
|
|
NM_004415.4(DSP):c.1545G>A (p.Pro515=)
|
rs747953037
|
0.00001
|
|
NM_004415.4(DSP):c.1553T>G (p.Leu518Arg)
|
rs1758969230
|
0.00001
|
|
NM_004415.4(DSP):c.1562A>C (p.Asp521Ala)
|
rs748790273
|
0.00001
|
|
NM_004415.4(DSP):c.1564C>G (p.Leu522Val)
|
rs1230995902
|
0.00001
|
|
NM_004415.4(DSP):c.1568C>T (p.Ser523Phe)
|
rs1276338018
|
0.00001
|
|
NM_004415.4(DSP):c.1574+3A>G
|
rs1231896749
|
0.00001
|
|
NM_004415.4(DSP):c.1575-16C>G
|
rs756806835
|
0.00001
|
|
NM_004415.4(DSP):c.1575-7C>T
|
rs1203683996
|
0.00001
|
|
NM_004415.4(DSP):c.1582C>G (p.Gln528Glu)
|
rs1267435790
|
0.00001
|
|
NM_004415.4(DSP):c.1582C>T (p.Gln528Ter)
|
rs1267435790
|
0.00001
|
|
NM_004415.4(DSP):c.1590C>T (p.Tyr530=)
|
rs769196176
|
0.00001
|
|
NM_004415.4(DSP):c.163G>T (p.Gly55Cys)
|
rs1214660308
|
0.00001
|
|
NM_004415.4(DSP):c.165C>T (p.Gly55=)
|
rs1041730733
|
0.00001
|
|
NM_004415.4(DSP):c.1671A>G (p.Ile557Met)
|
rs766505506
|
0.00001
|
|
NM_004415.4(DSP):c.170+16G>A
|
rs1475829163
|
0.00001
|
|
NM_004415.4(DSP):c.1702-10C>A
|
rs774406075
|
0.00001
|
|
NM_004415.4(DSP):c.171-4T>C
|
rs1554105598
|
0.00001
|
|
NM_004415.4(DSP):c.1714C>T (p.Arg572Trp)
|
rs796851273
|
0.00001
|
|
NM_004415.4(DSP):c.1715G>A (p.Arg572Gln)
|
rs370531666
|
0.00001
|
|
NM_004415.4(DSP):c.1725T>C (p.Asp575=)
|
rs756392585
|
0.00001
|
|
NM_004415.4(DSP):c.1726T>C (p.Tyr576His)
|
rs1251859576
|
0.00001
|
|
NM_004415.4(DSP):c.1728C>T (p.Tyr576=)
|
rs760696358
|
0.00001
|
|
NM_004415.4(DSP):c.1730T>C (p.Met577Thr)
|
rs141956992
|
0.00001
|
|
NM_004415.4(DSP):c.1731G>A (p.Met577Ile)
|
rs794728101
|
0.00001
|
|
NM_004415.4(DSP):c.1737G>A (p.Thr579=)
|
rs150734502
|
0.00001
|
|
NM_004415.4(DSP):c.1812C>T (p.Asp604=)
|
rs1428325875
|
0.00001
|
|
NM_004415.4(DSP):c.181A>G (p.Thr61Ala)
|
rs1380249575
|
0.00001
|
|
NM_004415.4(DSP):c.1821A>G (p.Lys607=)
|
rs768675424
|
0.00001
|
|
NM_004415.4(DSP):c.1824A>G (p.Ile608Met)
|
rs776461292
|
0.00001
|
|
NM_004415.4(DSP):c.182C>T (p.Thr61Met)
|
rs200250096
|
0.00001
|
|
NM_004415.4(DSP):c.1860G>A (p.Gln620=)
|
rs762658467
|
0.00001
|
|
NM_004415.4(DSP):c.1864C>T (p.Leu622=)
|
rs200790278
|
0.00001
|
|
NM_004415.4(DSP):c.1901C>G (p.Thr634Arg)
|
rs139964486
|
0.00001
|
|
NM_004415.4(DSP):c.195C>T (p.His65=)
|
rs1324720466
|
0.00001
|
|
NM_004415.4(DSP):c.1960G>A (p.Val654Ile)
|
rs375629257
|
0.00001
|
|
NM_004415.4(DSP):c.1973A>G (p.Asn658Ser)
|
rs749183448
|
0.00001
|
|
NM_004415.4(DSP):c.197A>T (p.Gln66Leu)
|
rs794728152
|
0.00001
|
|
NM_004415.4(DSP):c.1992A>G (p.Gln664=)
|
rs759117503
|
0.00001
|
|
NM_004415.4(DSP):c.2023A>G (p.Ile675Val)
|
rs142619902
|
0.00001
|
|
NM_004415.4(DSP):c.2030G>A (p.Arg677Lys)
|
rs749238502
|
0.00001
|
|
NM_004415.4(DSP):c.2054G>C (p.Arg685Thr)
|
rs1212756552
|
0.00001
|
|
NM_004415.4(DSP):c.2071C>T (p.Leu691Phe)
|
rs1363445022
|
0.00001
|
|
NM_004415.4(DSP):c.2073C>G (p.Leu691=)
|
rs768290750
|
0.00001
|
|
NM_004415.4(DSP):c.2077C>G (p.Leu693Val)
|
rs1339486272
|
0.00001
|
|
NM_004415.4(DSP):c.2081C>T (p.Ala694Val)
|
rs543446763
|
0.00001
|
|
NM_004415.4(DSP):c.210C>T (p.Thr70=)
|
rs1303431114
|
0.00001
|
|
NM_004415.4(DSP):c.2130+8T>C
|
rs1450035171
|
0.00001
|
|
NM_004415.4(DSP):c.2131-10T>C
|
rs369821143
|
0.00001
|
|
NM_004415.4(DSP):c.2131-19T>C
|
rs1302281595
|
0.00001
|
|
NM_004415.4(DSP):c.2131-5G>C
|
rs767939332
|
0.00001
|
|
NM_004415.4(DSP):c.2158G>T (p.Ala720Ser)
|
rs1180846023
|
0.00001
|
|
NM_004415.4(DSP):c.2192C>A (p.Ala731Asp)
|
rs1280322841
|
0.00001
|
|
NM_004415.4(DSP):c.2194A>G (p.Asn732Asp)
|
rs746785505
|
0.00001
|
|
NM_004415.4(DSP):c.223C>T (p.Leu75=)
|
rs746019083
|
0.00001
|
|
NM_004415.4(DSP):c.2246T>C (p.Leu749Pro)
|
rs935504136
|
0.00001
|
|
NM_004415.4(DSP):c.2260G>A (p.Glu754Lys)
|
rs730880080
|
0.00001
|
|
NM_004415.4(DSP):c.2265T>C (p.Asn755=)
|
rs770798708
|
0.00001
|
|
NM_004415.4(DSP):c.2270A>G (p.Asn757Ser)
|
rs372354883
|
0.00001
|
|
NM_004415.4(DSP):c.2280A>C (p.Thr760=)
|
rs1375561193
|
0.00001
|
|
NM_004415.4(DSP):c.2287T>C (p.Tyr763His)
|
rs1064794463
|
0.00001
|
|
NM_004415.4(DSP):c.2298-17T>G
|
rs375721577
|
0.00001
|
|
NM_004415.4(DSP):c.2298-3C>T
|
rs1300722110
|
0.00001
|
|
NM_004415.4(DSP):c.2316A>T (p.Ala772=)
|
rs754896726
|
0.00001
|
|
NM_004415.4(DSP):c.2377G>A (p.Glu793Lys)
|
rs755067397
|
0.00001
|
|
NM_004415.4(DSP):c.2423G>A (p.Arg808His)
|
rs372906646
|
0.00001
|
|
NM_004415.4(DSP):c.2436+2T>C
|
rs774514264
|
0.00001
|
|
NM_004415.4(DSP):c.2437-9dup
|
rs1239613725
|
0.00001
|
|
NM_004415.4(DSP):c.2469G>A (p.Ser823=)
|
rs368945617
|
0.00001
|
|
NM_004415.4(DSP):c.2472G>A (p.Leu824=)
|
rs763798166
|
0.00001
|
|
NM_004415.4(DSP):c.2482A>G (p.Met828Val)
|
rs1338201926
|
0.00001
|
|
NM_004415.4(DSP):c.249G>A (p.Met83Ile)
|
rs1426930663
|
0.00001
|
|
NM_004415.4(DSP):c.2502A>G (p.Lys834=)
|
rs764842338
|
0.00001
|
|
NM_004415.4(DSP):c.2510A>C (p.Gln837Pro)
|
rs1202933658
|
0.00001
|
|
NM_004415.4(DSP):c.2515C>T (p.His839Tyr)
|
rs1561693806
|
0.00001
|
|
NM_004415.4(DSP):c.2550_2552dup (p.Leu851dup)
|
rs730880373
|
0.00001
|
|
NM_004415.4(DSP):c.2597G>A (p.Arg866His)
|
rs764965132
|
0.00001
|
|
NM_004415.4(DSP):c.2609T>C (p.Ile870Thr)
|
rs534413559
|
0.00001
|
|
NM_004415.4(DSP):c.2617C>G (p.Gln873Glu)
|
rs794728118
|
0.00001
|
|
NM_004415.4(DSP):c.2629A>C (p.Arg877=)
|
rs1581810753
|
0.00001
|
|
NM_004415.4(DSP):c.2630+10C>A
|
rs757717367
|
0.00001
|
|
NM_004415.4(DSP):c.2630+3A>G
|
rs1174928581
|
0.00001
|
|
NM_004415.4(DSP):c.2644G>A (p.Glu882Lys)
|
rs730880081
|
0.00001
|
|
NM_004415.4(DSP):c.2658G>A (p.Lys886=)
|
rs201404613
|
0.00001
|
|
NM_004415.4(DSP):c.265G>A (p.Val89Met)
|
rs766022243
|
0.00001
|
|
NM_004415.4(DSP):c.2666G>A (p.Arg889Lys)
|
rs762341335
|
0.00001
|
|
NM_004415.4(DSP):c.2689G>C (p.Ala897Pro)
|
rs1008407158
|
0.00001
|
|
NM_004415.4(DSP):c.268C>T (p.Gln90Ter)
|
rs886039343
|
0.00001
|
|
NM_004415.4(DSP):c.2728G>A (p.Asp910Asn)
|
rs775080138
|
0.00001
|
|
NM_004415.4(DSP):c.273+11C>G
|
rs1234194955
|
0.00001
|
|
NM_004415.4(DSP):c.273+3A>G
|
rs794728107
|
0.00001
|
|
NM_004415.4(DSP):c.273+9T>C
|
rs1439195112
|
0.00001
|
|
NM_004415.4(DSP):c.2793+19T>C
|
rs778502149
|
0.00001
|
|
NM_004415.4(DSP):c.2822G>A (p.Arg941Gln)
|
rs759869347
|
0.00001
|
|
NM_004415.4(DSP):c.2841A>G (p.Val947=)
|
rs1489060030
|
0.00001
|
|
NM_004415.4(DSP):c.2850T>G (p.Ile950Met)
|
rs727502999
|
0.00001
|
|
NM_004415.4(DSP):c.2858T>C (p.Leu953Pro)
|
rs745641212
|
0.00001
|
|
NM_004415.4(DSP):c.2872A>G (p.Ile958Val)
|
rs377116090
|
0.00001
|
|
NM_004415.4(DSP):c.2877+19G>A
|
rs1167474508
|
0.00001
|
|
NM_004415.4(DSP):c.2877+9G>T
|
rs1759263896
|
0.00001
|
|
NM_004415.4(DSP):c.2878-4G>A
|
rs758303966
|
0.00001
|
|
NM_004415.4(DSP):c.2886G>C (p.Glu962Asp)
|
rs1483445708
|
0.00001
|
|
NM_004415.4(DSP):c.2906C>T (p.Thr969Ile)
|
rs1265482489
|
0.00001
|
|
NM_004415.4(DSP):c.2924T>C (p.Leu975Pro)
|
rs1473895931
|
0.00001
|
|
NM_004415.4(DSP):c.2925G>A (p.Leu975=)
|
rs1163951082
|
0.00001
|
|
NM_004415.4(DSP):c.2933T>A (p.Ile978Lys)
|
rs1060500615
|
0.00001
|
|
NM_004415.4(DSP):c.2959T>A (p.Ser987Thr)
|
rs397516929
|
0.00001
|
|
NM_004415.4(DSP):c.2962C>T (p.Pro988Ser)
|
rs774742340
|
0.00001
|
|
NM_004415.4(DSP):c.2966C>T (p.Ser989Phe)
|
rs746346559
|
0.00001
|
|
NM_004415.4(DSP):c.2985G>A (p.Glu995=)
|
rs768858918
|
0.00001
|
|
NM_004415.4(DSP):c.2991A>C (p.Ala997=)
|
rs780686578
|
0.00001
|
|
NM_004415.4(DSP):c.2993A>T (p.Asp998Val)
|
rs752344739
|
0.00001
|
|
NM_004415.4(DSP):c.2995G>A (p.Val999Ile)
|
rs1261418744
|
0.00001
|
|
NM_004415.4(DSP):c.2T>G (p.Met1Arg)
|
rs748738880
|
0.00001
|
|
NM_004415.4(DSP):c.3001G>T (p.Ala1001Ser)
|
rs1218975129
|
0.00001
|
|
NM_004415.4(DSP):c.3004C>T (p.Arg1002Trp)
|
rs772551736
|
0.00001
|
|
NM_004415.4(DSP):c.3011T>C (p.Ile1004Thr)
|
rs910919703
|
0.00001
|
|
NM_004415.4(DSP):c.3025A>G (p.Arg1009Gly)
|
rs1413346143
|
0.00001
|
|
NM_004415.4(DSP):c.3039T>C (p.Tyr1013=)
|
rs1383881452
|
0.00001
|
|
NM_004415.4(DSP):c.3059T>C (p.Met1020Thr)
|
rs773331618
|
0.00001
|
|
NM_004415.4(DSP):c.3067A>C (p.Ser1023Arg)
|
rs766388963
|
0.00001
|
|
NM_004415.4(DSP):c.3084+9T>C
|
rs751450713
|
0.00001
|
|
NM_004415.4(DSP):c.3084G>A (p.Lys1028=)
|
rs964949139
|
0.00001
|
|
NM_004415.4(DSP):c.308G>A (p.Arg103Gln)
|
rs775015862
|
0.00001
|
|
NM_004415.4(DSP):c.3117G>A (p.Glu1039=)
|
rs763766403
|
0.00001
|
|
NM_004415.4(DSP):c.3141C>T (p.Ala1047=)
|
rs1421186832
|
0.00001
|
|
NM_004415.4(DSP):c.314G>A (p.Arg105Gln)
|
rs762238621
|
0.00001
|
|
NM_004415.4(DSP):c.3216C>T (p.Phe1072=)
|
rs774512190
|
0.00001
|
|
NM_004415.4(DSP):c.321G>A (p.Leu107=)
|
rs765707433
|
0.00001
|
|
NM_004415.4(DSP):c.3221C>T (p.Ala1074Val)
|
rs745849763
|
0.00001
|
|
NM_004415.4(DSP):c.3222G>A (p.Ala1074=)
|
rs772040899
|
0.00001
|
|
NM_004415.4(DSP):c.3249G>A (p.Lys1083=)
|
rs764787427
|
0.00001
|
|
NM_004415.4(DSP):c.326A>C (p.Glu109Ala)
|
rs918984340
|
0.00001
|
|
NM_004415.4(DSP):c.3277G>A (p.Ala1093Thr)
|
rs1185986064
|
0.00001
|
|
NM_004415.4(DSP):c.327G>A (p.Glu109=)
|
rs750816128
|
0.00001
|
|
NM_004415.4(DSP):c.3323A>G (p.Asn1108Ser)
|
rs771948271
|
0.00001
|
|
NM_004415.4(DSP):c.3333C>A (p.Ile1111=)
|
rs1759349079
|
0.00001
|
|
NM_004415.4(DSP):c.3343A>G (p.Thr1115Ala)
|
rs761524542
|
0.00001
|
|
NM_004415.4(DSP):c.3379T>C (p.Ser1127Pro)
|
rs1581815458
|
0.00001
|
|
NM_004415.4(DSP):c.3396T>C (p.Phe1132=)
|
rs41302881
|
0.00001
|
|
NM_004415.4(DSP):c.340G>A (p.Ala114Thr)
|
rs751745906
|
0.00001
|
|
NM_004415.4(DSP):c.3453G>A (p.Glu1151=)
|
rs1554108084
|
0.00001
|
|
NM_004415.4(DSP):c.3471A>G (p.Lys1157=)
|
rs371743739
|
0.00001
|
|
NM_004415.4(DSP):c.3520T>C (p.Leu1174=)
|
rs1355577119
|
0.00001
|
|
NM_004415.4(DSP):c.3530T>A (p.Leu1177Gln)
|
rs770489625
|
0.00001
|
|
NM_004415.4(DSP):c.3540A>G (p.Glu1180=)
|
rs555514197
|
0.00001
|
|
NM_004415.4(DSP):c.3550C>T (p.Arg1184Trp)
|
rs761331634
|
0.00001
|
|
NM_004415.4(DSP):c.3601G>A (p.Glu1201Lys)
|
rs751566392
|
0.00001
|
|
NM_004415.4(DSP):c.3605A>T (p.Glu1202Val)
|
rs374266534
|
0.00001
|
|
NM_004415.4(DSP):c.3644A>G (p.Asn1215Ser)
|
rs777375223
|
0.00001
|
|
NM_004415.4(DSP):c.3649A>T (p.Thr1217Ser)
|
rs770484693
|
0.00001
|
|
NM_004415.4(DSP):c.364G>A (p.Asp122Asn)
|
rs756013600
|
0.00001
|
|
NM_004415.4(DSP):c.3680A>G (p.Gln1227Arg)
|
rs1458557680
|
0.00001
|
|
NM_004415.4(DSP):c.3701A>G (p.Asn1234Ser)
|
rs185367490
|
0.00001
|
|
NM_004415.4(DSP):c.3715C>T (p.Leu1239Phe)
|
rs752645827
|
0.00001
|
|
NM_004415.4(DSP):c.3740G>A (p.Arg1247Gln)
|
rs867067755
|
0.00001
|
|
NM_004415.4(DSP):c.3742G>A (p.Asp1248Asn)
|
rs989348634
|
0.00001
|
|
NM_004415.4(DSP):c.3757A>C (p.Ile1253Leu)
|
rs924651718
|
0.00001
|
|
NM_004415.4(DSP):c.3805C>T (p.Arg1269Ter)
|
rs767643821
|
0.00001
|
|
NM_004415.4(DSP):c.3819C>T (p.Asn1273=)
|
rs1390665527
|
0.00001
|
|
NM_004415.4(DSP):c.3820G>A (p.Ala1274Thr)
|
rs1285435504
|
0.00001
|
|
NM_004415.4(DSP):c.3838T>C (p.Cys1280Arg)
|
rs1473719755
|
0.00001
|
|
NM_004415.4(DSP):c.3843C>T (p.Gly1281=)
|
rs757848395
|
0.00001
|
|
NM_004415.4(DSP):c.385C>T (p.Arg129Trp)
|
rs777763456
|
0.00001
|
|
NM_004415.4(DSP):c.3864G>A (p.Lys1288=)
|
rs768166626
|
0.00001
|
|
NM_004415.4(DSP):c.3865C>T (p.Gln1289Ter)
|
rs778178956
|
0.00001
|
|
NM_004415.4(DSP):c.386G>A (p.Arg129Gln)
|
rs749155619
|
0.00001
|
|
NM_004415.4(DSP):c.3878T>C (p.Ile1293Thr)
|
rs759823665
|
0.00001
|
|
NM_004415.4(DSP):c.38C>T (p.Thr13Ile)
|
rs201133637
|
0.00001
|
|
NM_004415.4(DSP):c.3903G>A (p.Gln1301=)
|
rs1284991362
|
0.00001
|
|
NM_004415.4(DSP):c.3905G>A (p.Arg1302His)
|
rs760691999
|
0.00001
|
|
NM_004415.4(DSP):c.3919G>A (p.Ala1307Thr)
|
rs367579811
|
0.00001
|
|
NM_004415.4(DSP):c.3973A>C (p.Lys1325Gln)
|
rs41302883
|
0.00001
|
|
NM_004415.4(DSP):c.4021C>T (p.Arg1341Cys)
|
rs547568275
|
0.00001
|
|
NM_004415.4(DSP):c.4043T>G (p.Leu1348Arg)
|
rs767003564
|
0.00001
|
|
NM_004415.4(DSP):c.4046G>A (p.Ser1349Asn)
|
rs144465638
|
0.00001
|
|
NM_004415.4(DSP):c.4061A>G (p.Asn1354Ser)
|
rs746333083
|
0.00001
|
|
NM_004415.4(DSP):c.408T>G (p.Asp136Glu)
|
rs774188472
|
0.00001
|
|
NM_004415.4(DSP):c.4103C>T (p.Thr1368Ile)
|
rs530481219
|
0.00001
|
|
NM_004415.4(DSP):c.4112A>G (p.Asn1371Ser)
|
rs369649373
|
0.00001
|
|
NM_004415.4(DSP):c.4118C>T (p.Thr1373Ile)
|
rs762930286
|
0.00001
|
|
NM_004415.4(DSP):c.4125C>A (p.Thr1375=)
|
rs766338180
|
0.00001
|
|
NM_004415.4(DSP):c.4142C>G (p.Thr1381Ser)
|
rs767174407
|
0.00001
|
|
NM_004415.4(DSP):c.4173C>T (p.Tyr1391=)
|
rs75537269
|
0.00001
|
|
NM_004415.4(DSP):c.4174C>T (p.Arg1392Trp)
|
rs987487921
|
0.00001
|
|
NM_004415.4(DSP):c.4184T>A (p.Ile1395Lys)
|
rs1220191244
|
0.00001
|
|
NM_004415.4(DSP):c.423-17G>A
|
rs936607131
|
0.00001
|
|
NM_004415.4(DSP):c.423G>C (p.Arg141Ser)
|
rs771688614
|
0.00001
|
|
NM_004415.4(DSP):c.4242C>T (p.Asn1414=)
|
rs375941706
|
0.00001
|
|
NM_004415.4(DSP):c.4248A>G (p.Leu1416=)
|
rs760259046
|
0.00001
|
|
NM_004415.4(DSP):c.4274G>A (p.Arg1425Lys)
|
rs577560157
|
0.00001
|
|
NM_004415.4(DSP):c.4303G>C (p.Ala1435Pro)
|
rs751972271
|
0.00001
|
|
NM_004415.4(DSP):c.4305_4309del (p.Thr1436fs)
|
rs1554108287
|
0.00001
|
|
NM_004415.4(DSP):c.4311C>G (p.Gly1437=)
|
rs781353867
|
0.00001
|
|
NM_004415.4(DSP):c.4312T>C (p.Ser1438Pro)
|
rs1561698695
|
0.00001
|
|
NM_004415.4(DSP):c.431A>C (p.Gln144Pro)
|
rs768178768
|
0.00001
|
|
NM_004415.4(DSP):c.4347T>G (p.Val1449=)
|
rs778043017
|
0.00001
|
|
NM_004415.4(DSP):c.4358A>C (p.Gln1453Pro)
|
rs1464785832
|
0.00001
|
|
NM_004415.4(DSP):c.4359A>G (p.Gln1453=)
|
rs1174059606
|
0.00001
|
|
NM_004415.4(DSP):c.4376C>T (p.Thr1459Ile)
|
rs1160666212
|
0.00001
|
|
NM_004415.4(DSP):c.4395T>C (p.Tyr1465=)
|
rs1236464864
|
0.00001
|
|
NM_004415.4(DSP):c.4405C>T (p.Leu1469Phe)
|
rs752121953
|
0.00001
|
|
NM_004415.4(DSP):c.4419C>T (p.Ala1473=)
|
rs727504542
|
0.00001
|
|
NM_004415.4(DSP):c.4433A>G (p.Asp1478Gly)
|
rs767339003
|
0.00001
|
|
NM_004415.4(DSP):c.4446G>A (p.Glu1482=)
|
rs145213715
|
0.00001
|
|
NM_004415.4(DSP):c.4448T>C (p.Ile1483Thr)
|
rs745872344
|
0.00001
|
|
NM_004415.4(DSP):c.4457T>C (p.Leu1486Ser)
|
rs779863353
|
0.00001
|
|
NM_004415.4(DSP):c.4470C>T (p.Ile1490=)
|
rs1759402221
|
0.00001
|
|
NM_004415.4(DSP):c.4518del (p.Arg1506fs)
|
rs1289037294
|
0.00001
|
|
NM_004415.4(DSP):c.4526G>A (p.Arg1509Lys)
|
rs577061462
|
0.00001
|
|
NM_004415.4(DSP):c.4531C>T (p.Gln1511Ter)
|
rs397516940
|
0.00001
|
|
NM_004415.4(DSP):c.4563G>A (p.Ala1521=)
|
rs774258993
|
0.00001
|
|
NM_004415.4(DSP):c.4566G>A (p.Thr1522=)
|
rs1159243386
|
0.00001
|
|
NM_004415.4(DSP):c.4592A>C (p.Gln1531Pro)
|
rs1208037043
|
0.00001
|
|
NM_004415.4(DSP):c.4620C>T (p.Ile1540=)
|
rs1385558717
|
0.00001
|
|
NM_004415.4(DSP):c.4621G>A (p.Asp1541Asn)
|
rs750607476
|
0.00001
|
|
NM_004415.4(DSP):c.4625A>G (p.Tyr1542Cys)
|
rs1279142467
|
0.00001
|
|
NM_004415.4(DSP):c.4666A>G (p.Ile1556Val)
|
rs530647574
|
0.00001
|
|
NM_004415.4(DSP):c.4668C>T (p.Ile1556=)
|
rs1299604004
|
0.00001
|
|
NM_004415.4(DSP):c.4671G>A (p.Thr1557=)
|
rs367767551
|
0.00001
|
|
NM_004415.4(DSP):c.4684T>C (p.Ser1562Pro)
|
rs1394590334
|
0.00001
|
|
NM_004415.4(DSP):c.4698G>A (p.Leu1566=)
|
rs751608838
|
0.00001
|
|
NM_004415.4(DSP):c.4716G>A (p.Lys1572=)
|
rs1759413690
|
0.00001
|
|
NM_004415.4(DSP):c.4735C>T (p.Arg1579Trp)
|
rs755868373
|
0.00001
|
|
NM_004415.4(DSP):c.4736G>A (p.Arg1579Gln)
|
rs397516942
|
0.00001
|
|
NM_004415.4(DSP):c.4748C>G (p.Thr1583Ser)
|
rs778603023
|
0.00001
|
|
NM_004415.4(DSP):c.4754C>T (p.Ser1585Leu)
|
rs773622004
|
0.00001
|
|
NM_004415.4(DSP):c.4779G>A (p.Lys1593=)
|
rs759646052
|
0.00001
|
|
NM_004415.4(DSP):c.479G>A (p.Arg160Gln)
|
rs752941845
|
0.00001
|
|
NM_004415.4(DSP):c.4811C>T (p.Ser1604Leu)
|
rs757018930
|
0.00001
|
|
NM_004415.4(DSP):c.4812G>A (p.Ser1604=)
|
rs778729982
|
0.00001
|
|
NM_004415.4(DSP):c.4841A>G (p.Asn1614Ser)
|
rs1759419529
|
0.00001
|
|
NM_004415.4(DSP):c.4859A>G (p.Glu1620Gly)
|
rs1423503309
|
0.00001
|
|
NM_004415.4(DSP):c.4862A>G (p.Gln1621Arg)
|
rs1226931552
|
0.00001
|
|
NM_004415.4(DSP):c.4916T>G (p.Val1639Gly)
|
rs1304994640
|
0.00001
|
|
NM_004415.4(DSP):c.4950C>G (p.Thr1650=)
|
rs948524246
|
0.00001
|
|
NM_004415.4(DSP):c.4961T>C (p.Leu1654Pro)
|
rs749730642
|
0.00001
|
|
NM_004415.4(DSP):c.4983C>T (p.Val1661=)
|
rs755233649
|
0.00001
|
|
NM_004415.4(DSP):c.498C>T (p.Ser166=)
|
rs372869942
|
0.00001
|
|
NM_004415.4(DSP):c.5014C>G (p.Gln1672Glu)
|
rs786205416
|
0.00001
|
|
NM_004415.4(DSP):c.5062G>A (p.Ala1688Thr)
|
rs757753880
|
0.00001
|
|
NM_004415.4(DSP):c.508G>A (p.Gly170Arg)
|
rs779608764
|
0.00001
|
|
NM_004415.4(DSP):c.5091T>C (p.Asn1697=)
|
rs780353871
|
0.00001
|
|
NM_004415.4(DSP):c.50T>G (p.Met17Arg)
|
rs559248100
|
0.00001
|
|
NM_004415.4(DSP):c.5118G>A (p.Leu1706=)
|
rs747132423
|
0.00001
|
|
NM_004415.4(DSP):c.5120A>T (p.Gln1707Leu)
|
rs768870428
|
0.00001
|
|
NM_004415.4(DSP):c.5123C>T (p.Ser1708Phe)
|
rs372452104
|
0.00001
|
|
NM_004415.4(DSP):c.5130A>T (p.Thr1710=)
|
rs1339008022
|
0.00001
|
|
NM_004415.4(DSP):c.5153T>C (p.Leu1718Ser)
|
rs1278859783
|
0.00001
|
|
NM_004415.4(DSP):c.5186T>G (p.Leu1729Arg)
|
rs377344768
|
0.00001
|
|
NM_004415.4(DSP):c.5202G>C (p.Leu1734=)
|
rs755220841
|
0.00001
|
|
NM_004415.4(DSP):c.5217C>T (p.Ser1739=)
|
rs748263306
|
0.00001
|
|
NM_004415.4(DSP):c.5242A>G (p.Thr1748Ala)
|
rs1315952619
|
0.00001
|
|
NM_004415.4(DSP):c.5244C>T (p.Thr1748=)
|
rs759222918
|
0.00001
|
|
NM_004415.4(DSP):c.5261G>A (p.Ser1754Asn)
|
rs763526083
|
0.00001
|
|
NM_004415.4(DSP):c.5283C>T (p.Asn1761=)
|
rs763355815
|
0.00001
|
|
NM_004415.4(DSP):c.5284C>T (p.Arg1762Trp)
|
rs766833113
|
0.00001
|
|
NM_004415.4(DSP):c.5380-12C>T
|
rs1393661264
|
0.00001
|
|
NM_004415.4(DSP):c.5380-15C>A
|
rs753028657
|
0.00001
|
|
NM_004415.4(DSP):c.5396A>G (p.Gln1799Arg)
|
rs987386495
|
0.00001
|
|
NM_004415.4(DSP):c.5412G>T (p.Gln1804His)
|
rs779809935
|
0.00001
|
|
NM_004415.4(DSP):c.5485C>G (p.Leu1829Val)
|
rs769284245
|
0.00001
|
|
NM_004415.4(DSP):c.5550A>G (p.Lys1850=)
|
rs1759482564
|
0.00001
|
|
NM_004415.4(DSP):c.5589C>T (p.Asp1863=)
|
rs751379396
|
0.00001
|
|
NM_004415.4(DSP):c.5593A>T (p.Asn1865Tyr)
|
rs562015789
|
0.00001
|
|
NM_004415.4(DSP):c.5594A>G (p.Asn1865Ser)
|
rs780714982
|
0.00001
|
|
NM_004415.4(DSP):c.5611T>G (p.Tyr1871Asp)
|
rs374844169
|
0.00001
|
|
NM_004415.4(DSP):c.5618G>A (p.Arg1873His)
|
rs776088292
|
0.00001
|
|
NM_004415.4(DSP):c.5631T>C (p.Ala1877=)
|
rs1231651139
|
0.00001
|
|
NM_004415.4(DSP):c.5647T>C (p.Ser1883Pro)
|
rs1056652234
|
0.00001
|
|
NM_004415.4(DSP):c.5649G>A (p.Ser1883=)
|
rs760974941
|
0.00001
|
|
NM_004415.4(DSP):c.5656G>C (p.Glu1886Gln)
|
rs776728790
|
0.00001
|
|
NM_004415.4(DSP):c.5698G>A (p.Glu1900Lys)
|
rs751447598
|
0.00001
|
|
NM_004415.4(DSP):c.5707C>A (p.Gln1903Lys)
|
rs794728103
|
0.00001
|
|
NM_004415.4(DSP):c.5722A>G (p.Arg1908Gly)
|
rs781030107
|
0.00001
|
|
NM_004415.4(DSP):c.5749C>T (p.Leu1917=)
|
rs936938713
|
0.00001
|
|
NM_004415.4(DSP):c.5752G>A (p.Glu1918Lys)
|
rs1352220803
|
0.00001
|
|
NM_004415.4(DSP):c.5779C>G (p.Gln1927Glu)
|
rs794728104
|
0.00001
|
|
NM_004415.4(DSP):c.5794C>T (p.Arg1932Cys)
|
rs748825632
|
0.00001
|
|
NM_004415.4(DSP):c.5804A>G (p.Tyr1935Cys)
|
rs777048976
|
0.00001
|
|
NM_004415.4(DSP):c.5805T>C (p.Tyr1935=)
|
rs748358814
|
0.00001
|
|
NM_004415.4(DSP):c.5810G>A (p.Arg1937Lys)
|
rs375502200
|
0.00001
|
|
NM_004415.4(DSP):c.5820T>C (p.Asp1940=)
|
rs763026647
|
0.00001
|
|
NM_004415.4(DSP):c.582G>T (p.Trp194Cys)
|
rs1345570966
|
0.00001
|
|
NM_004415.4(DSP):c.5834G>A (p.Arg1945His)
|
rs759516161
|
0.00001
|
|
NM_004415.4(DSP):c.5838A>C (p.Pro1946=)
|
rs369822839
|
0.00001
|
|
NM_004415.4(DSP):c.5859C>G (p.Thr1953=)
|
rs752518537
|
0.00001
|
|
NM_004415.4(DSP):c.5875T>C (p.Trp1959Arg)
|
rs1759501923
|
0.00001
|
|
NM_004415.4(DSP):c.5880C>T (p.Thr1960=)
|
rs375883982
|
0.00001
|
|
NM_004415.4(DSP):c.5881G>A (p.Val1961Ile)
|
rs368869076
|
0.00001
|
|
NM_004415.4(DSP):c.588G>A (p.Arg196=)
|
rs754666224
|
0.00001
|
|
NM_004415.4(DSP):c.5912T>C (p.Leu1971Pro)
|
rs397516950
|
0.00001
|
|
NM_004415.4(DSP):c.5958C>T (p.Ile1986=)
|
rs577625038
|
0.00001
|
|
NM_004415.4(DSP):c.5959G>A (p.Asp1987Asn)
|
rs759443302
|
0.00001
|
|
NM_004415.4(DSP):c.5963A>G (p.Lys1988Arg)
|
rs767516148
|
0.00001
|
|
NM_004415.4(DSP):c.5964A>G (p.Lys1988=)
|
rs775247252
|
0.00001
|
|
NM_004415.4(DSP):c.597+8G>A
|
rs992434570
|
0.00001
|
|
NM_004415.4(DSP):c.5976C>A (p.Asp1992Glu)
|
rs763921000
|
0.00001
|
|
NM_004415.4(DSP):c.598-5C>T
|
rs765653540
|
0.00001
|
|
NM_004415.4(DSP):c.5984T>C (p.Leu1995Ser)
|
rs794728128
|
0.00001
|
|
NM_004415.4(DSP):c.599C>T (p.Ala200Val)
|
rs1337095425
|
0.00001
|
|
NM_004415.4(DSP):c.6002T>A (p.Val2001Glu)
|
rs926676669
|
0.00001
|
|
NM_004415.4(DSP):c.6038G>A (p.Arg2013Gln)
|
rs557263443
|
0.00001
|
|
NM_004415.4(DSP):c.6059G>C (p.Gly2020Ala)
|
rs1327599046
|
0.00001
|
|
NM_004415.4(DSP):c.6086A>G (p.Tyr2029Cys)
|
rs753271305
|
0.00001
|
|
NM_004415.4(DSP):c.6112A>C (p.Lys2038Gln)
|
rs185846631
|
0.00001
|
|
NM_004415.4(DSP):c.6137T>G (p.Val2046Gly)
|
rs746016404
|
0.00001
|
|
NM_004415.4(DSP):c.6141G>C (p.Met2047Ile)
|
rs374226658
|
0.00001
|
|
NM_004415.4(DSP):c.6150G>A (p.Glu2050=)
|
rs1166392485
|
0.00001
|
|
NM_004415.4(DSP):c.61G>A (p.Glu21Lys)
|
rs747956457
|
0.00001
|
|
NM_004415.4(DSP):c.6224G>A (p.Arg2075Gln)
|
rs759000314
|
0.00001
|
|
NM_004415.4(DSP):c.6233T>C (p.Ile2078Thr)
|
rs377035113
|
0.00001
|
|
NM_004415.4(DSP):c.6235G>C (p.Asp2079His)
|
rs992731463
|
0.00001
|
|
NM_004415.4(DSP):c.6241G>A (p.Asp2081Asn)
|
rs779129603
|
0.00001
|
|
NM_004415.4(DSP):c.6259T>C (p.Tyr2087His)
|
rs780332266
|
0.00001
|
|
NM_004415.4(DSP):c.6325G>A (p.Glu2109Lys)
|
rs397516951
|
0.00001
|
|
NM_004415.4(DSP):c.6332T>C (p.Ile2111Thr)
|
rs370865499
|
0.00001
|
|
NM_004415.4(DSP):c.6346A>G (p.Ile2116Val)
|
rs777184414
|
0.00001
|
|
NM_004415.4(DSP):c.634G>A (p.Ala212Thr)
|
rs1028793473
|
0.00001
|
|
NM_004415.4(DSP):c.6359C>T (p.Thr2120Ile)
|
rs1759528864
|
0.00001
|
|
NM_004415.4(DSP):c.6367C>T (p.Arg2123Cys)
|
rs372242085
|
0.00001
|
|
NM_004415.4(DSP):c.6385A>G (p.Ile2129Val)
|
rs755981187
|
0.00001
|
|
NM_004415.4(DSP):c.6403G>A (p.Val2135Ile)
|
rs1416815807
|
0.00001
|
|
NM_004415.4(DSP):c.6415A>G (p.Asn2139Asp)
|
rs762434061
|
0.00001
|
|
NM_004415.4(DSP):c.6441C>A (p.Val2147=)
|
rs762513279
|
0.00001
|
|
NM_004415.4(DSP):c.6455G>T (p.Gly2152Val)
|
rs1040120840
|
0.00001
|
|
NM_004415.4(DSP):c.6497G>A (p.Arg2166Gln)
|
rs771692503
|
0.00001
|
|
NM_004415.4(DSP):c.6547T>G (p.Tyr2183Asp)
|
rs763549172
|
0.00001
|
|
NM_004415.4(DSP):c.6549C>T (p.Tyr2183=)
|
rs771461040
|
0.00001
|
|
NM_004415.4(DSP):c.6550G>A (p.Val2184Met)
|
rs774832931
|
0.00001
|
|
NM_004415.4(DSP):c.6576C>A (p.Ile2192=)
|
rs1032400756
|
0.00001
|
|
NM_004415.4(DSP):c.6585T>C (p.His2195=)
|
rs1759541694
|
0.00001
|
|
NM_004415.4(DSP):c.6587C>T (p.Thr2196Ile)
|
rs958098310
|
0.00001
|
|
NM_004415.4(DSP):c.6592C>G (p.Leu2198Val)
|
rs752057967
|
0.00001
|
|
NM_004415.4(DSP):c.664C>T (p.Arg222Trp)
|
rs1233981969
|
0.00001
|
|
NM_004415.4(DSP):c.6689C>T (p.Pro2230Leu)
|
rs759982048
|
0.00001
|
|
NM_004415.4(DSP):c.6699C>T (p.Val2233=)
|
rs767835744
|
0.00001
|
|
NM_004415.4(DSP):c.6733G>A (p.Glu2245Lys)
|
rs539763516
|
0.00001
|
|
NM_004415.4(DSP):c.6776G>A (p.Cys2259Tyr)
|
rs754635738
|
0.00001
|
|
NM_004415.4(DSP):c.677A>G (p.Asn226Ser)
|
rs921332894
|
0.00001
|
|
NM_004415.4(DSP):c.6812A>C (p.Lys2271Thr)
|
rs730880089
|
0.00001
|
|
NM_004415.4(DSP):c.6852A>G (p.Arg2284=)
|
rs141148057
|
0.00001
|
|
NM_004415.4(DSP):c.6859A>T (p.Thr2287Ser)
|
rs869025396
|
0.00001
|
|
NM_004415.4(DSP):c.6879A>G (p.Glu2293=)
|
rs1327990933
|
0.00001
|
|
NM_004415.4(DSP):c.6902T>C (p.Ile2301Thr)
|
rs772381363
|
0.00001
|
|
NM_004415.4(DSP):c.6921C>T (p.Asn2307=)
|
rs775897238
|
0.00001
|
|
NM_004415.4(DSP):c.6927G>A (p.Arg2309=)
|
rs747248981
|
0.00001
|
|
NM_004415.4(DSP):c.692A>G (p.Tyr231Cys)
|
rs770210088
|
0.00001
|
|
NM_004415.4(DSP):c.6930A>G (p.Leu2310=)
|
rs1759552189
|
0.00001
|
|
NM_004415.4(DSP):c.6939G>A (p.Glu2313=)
|
rs1471693700
|
0.00001
|
|
NM_004415.4(DSP):c.6947A>G (p.Tyr2316Cys)
|
rs765245807
|
0.00001
|
|
NM_004415.4(DSP):c.6956G>A (p.Gly2319Asp)
|
rs762943687
|
0.00001
|
|
NM_004415.4(DSP):c.695G>A (p.Arg232His)
|
rs749438581
|
0.00001
|
|
NM_004415.4(DSP):c.6968T>C (p.Ile2323Thr)
|
rs777901747
|
0.00001
|
|
NM_004415.4(DSP):c.7000C>T (p.Arg2334Ter)
|
rs369482721
|
0.00001
|
|
NM_004415.4(DSP):c.7046C>G (p.Ser2349Cys)
|
rs769930190
|
0.00001
|
|
NM_004415.4(DSP):c.7066A>T (p.Lys2356Ter)
|
rs1561703331
|
0.00001
|
|
NM_004415.4(DSP):c.7068G>A (p.Lys2356=)
|
rs762892811
|
0.00001
|
|
NM_004415.4(DSP):c.7083G>A (p.Lys2361=)
|
rs1273820779
|
0.00001
|
|
NM_004415.4(DSP):c.7089C>T (p.His2363=)
|
rs1001343270
|
0.00001
|
|
NM_004415.4(DSP):c.7102T>C (p.Leu2368=)
|
rs1581823488
|
0.00001
|
|
NM_004415.4(DSP):c.7162G>A (p.Val2388Ile)
|
rs370490538
|
0.00001
|
|
NM_004415.4(DSP):c.7172C>T (p.Ala2391Val)
|
rs879254351
|
0.00001
|
|
NM_004415.4(DSP):c.7193A>G (p.Asn2398Ser)
|
rs1251606363
|
0.00001
|
|
NM_004415.4(DSP):c.720C>T (p.Ala240=)
|
rs1324798719
|
0.00001
|
|
NM_004415.4(DSP):c.7215C>T (p.Leu2405=)
|
rs191226040
|
0.00001
|
|
NM_004415.4(DSP):c.7249G>T (p.Asp2417Tyr)
|
rs760501352
|
0.00001
|
|
NM_004415.4(DSP):c.726+8T>C
|
rs1554106248
|
0.00001
|
|
NM_004415.4(DSP):c.7279C>A (p.Leu2427Met)
|
rs555784793
|
0.00001
|
|
NM_004415.4(DSP):c.7287A>G (p.Leu2429=)
|
rs764641630
|
0.00001
|
|
NM_004415.4(DSP):c.7341A>C (p.Lys2447Asn)
|
rs755448403
|
0.00001
|
|
NM_004415.4(DSP):c.7390C>T (p.Arg2464Cys)
|
rs778822920
|
0.00001
|
|
NM_004415.4(DSP):c.7396G>A (p.Val2466Met)
|
rs745862520
|
0.00001
|
|
NM_004415.4(DSP):c.7413A>G (p.Pro2471=)
|
rs772161814
|
0.00001
|
|
NM_004415.4(DSP):c.7433C>T (p.Ser2478Phe)
|
rs1759570987
|
0.00001
|
|
NM_004415.4(DSP):c.7451A>G (p.Lys2484Arg)
|
rs1346398330
|
0.00001
|
|
NM_004415.4(DSP):c.7465G>A (p.Asp2489Asn)
|
rs760552749
|
0.00001
|
|
NM_004415.4(DSP):c.7470T>C (p.Tyr2490=)
|
rs372896350
|
0.00001
|
|
NM_004415.4(DSP):c.7501T>C (p.Cys2501Arg)
|
rs776405018
|
0.00001
|
|
NM_004415.4(DSP):c.7534G>T (p.Asp2512Tyr)
|
rs772574987
|
0.00001
|
|
NM_004415.4(DSP):c.7551G>A (p.Val2517=)
|
rs754127386
|
0.00001
|
|
NM_004415.4(DSP):c.7562A>G (p.Asp2521Gly)
|
rs758490440
|
0.00001
|
|
NM_004415.4(DSP):c.7583A>G (p.Tyr2528Cys)
|
rs746932951
|
0.00001
|
|
NM_004415.4(DSP):c.7596T>C (p.Asp2532=)
|
rs769362448
|
0.00001
|
|
NM_004415.4(DSP):c.7618G>A (p.Asp2540Asn)
|
rs761136328
|
0.00001
|
|
NM_004415.4(DSP):c.7641C>G (p.Tyr2547Ter)
|
rs1464253797
|
0.00001
|
|
NM_004415.4(DSP):c.7644A>T (p.Arg2548=)
|
rs886039159
|
0.00001
|
|
NM_004415.4(DSP):c.764A>T (p.Tyr255Phe)
|
rs1490279963
|
0.00001
|
|
NM_004415.4(DSP):c.7650C>T (p.Gly2550=)
|
rs780277298
|
0.00001
|
|
NM_004415.4(DSP):c.7694A>C (p.Asn2565Thr)
|
rs769572594
|
0.00001
|
|
NM_004415.4(DSP):c.7701C>T (p.Val2567=)
|
rs772907439
|
0.00001
|
|
NM_004415.4(DSP):c.7702G>A (p.Gly2568Ser)
|
rs139486943
|
0.00001
|
|
NM_004415.4(DSP):c.772C>T (p.Leu258=)
|
rs147522043
|
0.00001
|
|
NM_004415.4(DSP):c.7731C>T (p.Val2577=)
|
rs1320894353
|
0.00001
|
|
NM_004415.4(DSP):c.7735G>A (p.Asp2579Asn)
|
rs750744914
|
0.00001
|
|
NM_004415.4(DSP):c.7745T>G (p.Phe2582Cys)
|
rs751712837
|
0.00001
|
|
NM_004415.4(DSP):c.7767A>G (p.Ser2589=)
|
rs755928079
|
0.00001
|
|
NM_004415.4(DSP):c.777+12T>G
|
rs764388232
|
0.00001
|
|
NM_004415.4(DSP):c.7778T>G (p.Ile2593Ser)
|
rs563272509
|
0.00001
|
|
NM_004415.4(DSP):c.778-9C>T
|
rs773949949
|
0.00001
|
|
NM_004415.4(DSP):c.7783A>G (p.Thr2595Ala)
|
rs1170072296
|
0.00001
|
|
NM_004415.4(DSP):c.7784C>T (p.Thr2595Ile)
|
rs772951950
|
0.00001
|
|
NM_004415.4(DSP):c.7810A>G (p.Ile2604Val)
|
rs1301635888
|
0.00001
|
|
NM_004415.4(DSP):c.7819A>G (p.Ser2607Gly)
|
rs1371480664
|
0.00001
|
|
NM_004415.4(DSP):c.7847C>T (p.Ser2616Leu)
|
rs571577908
|
0.00001
|
|
NM_004415.4(DSP):c.7855A>G (p.Ile2619Val)
|
rs767630308
|
0.00001
|
|
NM_004415.4(DSP):c.7864A>G (p.Ile2622Val)
|
rs752616130
|
0.00001
|
|
NM_004415.4(DSP):c.7876G>C (p.Glu2626Gln)
|
rs144821643
|
0.00001
|
|
NM_004415.4(DSP):c.7885G>A (p.Glu2629Lys)
|
rs756976948
|
0.00001
|
|
NM_004415.4(DSP):c.7910T>C (p.Ile2637Thr)
|
rs1229128923
|
0.00001
|
|
NM_004415.4(DSP):c.7918G>T (p.Gly2640Cys)
|
rs770390645
|
0.00001
|
|
NM_004415.4(DSP):c.7923C>T (p.Ile2641=)
|
rs773906008
|
0.00001
|
|
NM_004415.4(DSP):c.7926T>G (p.Val2642=)
|
rs917556170
|
0.00001
|
|
NM_004415.4(DSP):c.7934T>C (p.Ile2645Thr)
|
rs749682166
|
0.00001
|
|
NM_004415.4(DSP):c.7937C>T (p.Thr2646Met)
|
rs1425701789
|
0.00001
|
|
NM_004415.4(DSP):c.794G>A (p.Arg265Lys)
|
rs1064796438
|
0.00001
|
|
NM_004415.4(DSP):c.7962G>A (p.Gln2654=)
|
rs767539050
|
0.00001
|
|
NM_004415.4(DSP):c.7986C>A (p.His2662Gln)
|
rs753720770
|
0.00001
|
|
NM_004415.4(DSP):c.7990A>G (p.Thr2664Ala)
|
rs1260154229
|
0.00001
|
|
NM_004415.4(DSP):c.7994C>T (p.Thr2665Met)
|
rs151309106
|
0.00001
|
|
NM_004415.4(DSP):c.8014C>G (p.Gln2672Glu)
|
rs1064793890
|
0.00001
|
|
NM_004415.4(DSP):c.8015A>C (p.Gln2672Pro)
|
rs1060500612
|
0.00001
|
|
NM_004415.4(DSP):c.8032G>A (p.Gly2678Ser)
|
rs1371748682
|
0.00001
|
|
NM_004415.4(DSP):c.8050A>G (p.Met2684Val)
|
rs147801650
|
0.00001
|
|
NM_004415.4(DSP):c.8053G>T (p.Ala2685Ser)
|
rs760754021
|
0.00001
|
|
NM_004415.4(DSP):c.8087T>C (p.Ile2696Thr)
|
rs1415854040
|
0.00001
|
|
NM_004415.4(DSP):c.8094C>T (p.Phe2698=)
|
rs1201885200
|
0.00001
|
|
NM_004415.4(DSP):c.809G>A (p.Arg270Gln)
|
rs1203795810
|
0.00001
|
|
NM_004415.4(DSP):c.8123C>T (p.Ser2708Leu)
|
rs1194266904
|
0.00001
|
|
NM_004415.4(DSP):c.8133G>T (p.Glu2711Asp)
|
rs375348086
|
0.00001
|
|
NM_004415.4(DSP):c.8136A>T (p.Ala2712=)
|
rs1759620884
|
0.00001
|
|
NM_004415.4(DSP):c.8137G>A (p.Val2713Met)
|
rs1219478425
|
0.00001
|
|
NM_004415.4(DSP):c.8152C>A (p.Leu2718Ile)
|
rs727504569
|
0.00001
|
|
NM_004415.4(DSP):c.8159A>T (p.Tyr2720Phe)
|
rs367972703
|
0.00001
|
|
NM_004415.4(DSP):c.8162A>G (p.Glu2721Gly)
|
rs1324438820
|
0.00001
|
|
NM_004415.4(DSP):c.8174G>A (p.Arg2725His)
|
rs776674939
|
0.00001
|
|
NM_004415.4(DSP):c.8191T>C (p.Tyr2731His)
|
rs201397978
|
0.00001
|
|
NM_004415.4(DSP):c.8197A>T (p.Thr2733Ser)
|
rs1157650702
|
0.00001
|
|
NM_004415.4(DSP):c.8210T>C (p.Val2737Ala)
|
rs794728155
|
0.00001
|
|
NM_004415.4(DSP):c.8216C>T (p.Pro2739Leu)
|
rs761527198
|
0.00001
|
|
NM_004415.4(DSP):c.8217G>A (p.Pro2739=)
|
rs755508926
|
0.00001
|
|
NM_004415.4(DSP):c.8235A>G (p.Ile2745Met)
|
rs768893360
|
0.00001
|
|
NM_004415.4(DSP):c.8253C>G (p.Ile2751Met)
|
rs1165200201
|
0.00001
|
|
NM_004415.4(DSP):c.8277C>T (p.Arg2759=)
|
rs1248664648
|
0.00001
|
|
NM_004415.4(DSP):c.8278G>A (p.Ala2760Thr)
|
rs991726607
|
0.00001
|
|
NM_004415.4(DSP):c.8309A>G (p.Tyr2770Cys)
|
rs371020228
|
0.00001
|
|
NM_004415.4(DSP):c.8310T>C (p.Tyr2770=)
|
rs750982524
|
0.00001
|
|
NM_004415.4(DSP):c.8330C>A (p.Pro2777His)
|
rs376273136
|
0.00001
|
|
NM_004415.4(DSP):c.8364C>T (p.Ala2788=)
|
rs756256863
|
0.00001
|
|
NM_004415.4(DSP):c.8372G>A (p.Arg2791His)
|
rs749339594
|
0.00001
|
|
NM_004415.4(DSP):c.8389A>G (p.Ile2797Val)
|
rs1040353645
|
0.00001
|
|
NM_004415.4(DSP):c.8390T>C (p.Ile2797Thr)
|
rs769734918
|
0.00001
|
|
NM_004415.4(DSP):c.8404C>T (p.Leu2802Phe)
|
rs201271117
|
0.00001
|
|
NM_004415.4(DSP):c.844G>A (p.Glu282Lys)
|
rs397516966
|
0.00001
|
|
NM_004415.4(DSP):c.8476C>T (p.Arg2826Cys)
|
rs139969658
|
0.00001
|
|
NM_004415.4(DSP):c.8477G>A (p.Arg2826His)
|
rs548754771
|
0.00001
|
|
NM_004415.4(DSP):c.8495G>T (p.Gly2832Val)
|
rs397516970
|
0.00001
|
|
NM_004415.4(DSP):c.8498C>G (p.Ser2833Cys)
|
rs767961179
|
0.00001
|
|
NM_004415.4(DSP):c.8508A>G (p.Gly2836=)
|
rs754074127
|
0.00001
|
|
NM_004415.4(DSP):c.8511T>C (p.Ser2837=)
|
rs757475874
|
0.00001
|
|
NM_004415.4(DSP):c.8529T>C (p.Ser2843=)
|
rs780005300
|
0.00001
|
|
NM_004415.4(DSP):c.8539A>C (p.Arg2847=)
|
rs113629968
|
0.00001
|
|
NM_004415.4(DSP):c.8566T>A (p.Ser2856Thr)
|
rs148550678
|
0.00001
|
|
NM_004415.4(DSP):c.8580T>C (p.Tyr2860=)
|
rs201441128
|
0.00001
|
|
NM_004415.4(DSP):c.8606T>C (p.Ile2869Thr)
|
rs1759656543
|
0.00001
|
|
NM_004415.4(DSP):c.8610G>A (p.Gly2870=)
|
rs910215418
|
0.00001
|
|
NM_004415.4(DSP):c.867C>T (p.Cys289=)
|
rs397516973
|
0.00001
|
|
NM_004415.4(DSP):c.917C>G (p.Ala306Gly)
|
rs1758833983
|
0.00001
|
|
NM_004415.4(DSP):c.939+19G>T
|
rs777724973
|
0.00001
|
|
NM_004415.4(DSP):c.939+1G>A
|
rs727504443
|
0.00001
|
|
NM_004415.4(DSP):c.940-5C>T
|
rs368391882
|
0.00001
|
|
NM_004415.4(DSP):c.940-9C>T
|
rs1016646349
|
0.00001
|
|
NM_004415.4(DSP):c.946A>G (p.Met316Val)
|
rs201672777
|
0.00001
|
|
NM_004415.4(DSP):c.965A>G (p.Lys322Arg)
|
rs757098196
|
0.00001
|
|
NM_004415.4(DSP):c.976C>T (p.Leu326Phe)
|
rs117961973
|
0.00001
|
|
NM_004415.4(DSP):c.998G>A (p.Ser333Asn)
|
rs749695729
|
0.00001
|
|
NM_004415.4(DSP):c.9C>T (p.Cys3=)
|
rs769032973
|
0.00001
|
|
NM_004572.3(PKP2):c.-51C>T
|
rs886049326
|
0.00001
|
|
NM_004572.3(PKP2):c.-66G>C
|
rs1157974448
|
0.00001
|
|
NM_006073.4(TRDN):c.1051+7C>A
|
rs767743181
|
0.00001
|
|
NM_006073.4(TRDN):c.1052-9del
|
rs1404718387
|
0.00001
|
|
NM_006073.4(TRDN):c.1060A>G (p.Lys354Glu)
|
rs761972576
|
0.00001
|
|
NM_006073.4(TRDN):c.1083G>C (p.Gly361=)
|
rs878854815
|
0.00001
|
|
NM_006073.4(TRDN):c.1101A>G (p.Ala367=)
|
rs1186052488
|
0.00001
|
|
NM_006073.4(TRDN):c.1106-16A>G
|
rs1195466991
|
0.00001
|
|
NM_006073.4(TRDN):c.1108G>A (p.Ala370Thr)
|
rs1781990629
|
0.00001
|
|
NM_006073.4(TRDN):c.1115A>G (p.Lys372Arg)
|
rs1259355217
|
0.00001
|
|
NM_006073.4(TRDN):c.1130A>G (p.Lys377Arg)
|
rs750876367
|
0.00001
|
|
NM_006073.4(TRDN):c.1135+10A>T
|
rs765785141
|
0.00001
|
|
NM_006073.4(TRDN):c.1136-14C>T
|
rs1781747541
|
0.00001
|
|
NM_006073.4(TRDN):c.1136-19T>C
|
rs1454829896
|
0.00001
|
|
NM_006073.4(TRDN):c.1148C>T (p.Thr383Ile)
|
rs780744224
|
0.00001
|
|
NM_006073.4(TRDN):c.1165G>T (p.Val389Leu)
|
rs768208179
|
0.00001
|
|
NM_006073.4(TRDN):c.1206A>T (p.Lys402Asn)
|
rs745563456
|
0.00001
|
|
NM_006073.4(TRDN):c.1219+8T>A
|
rs749762696
|
0.00001
|
|
NM_006073.4(TRDN):c.1220-19T>G
|
rs1278216509
|
0.00001
|
|
NM_006073.4(TRDN):c.1222A>G (p.Lys408Glu)
|
rs771278361
|
0.00001
|
|
NM_006073.4(TRDN):c.1249C>G (p.Pro417Ala)
|
rs773700571
|
0.00001
|
|
NM_006073.4(TRDN):c.1273+4T>C
|
rs1261345499
|
0.00001
|
|
NM_006073.4(TRDN):c.1274-6T>A
|
rs1034356533
|
0.00001
|
|
NM_006073.4(TRDN):c.1283G>A (p.Arg428Gln)
|
rs371336992
|
0.00001
|
|
NM_006073.4(TRDN):c.1286C>A (p.Ala429Asp)
|
rs1297242196
|
0.00001
|
|
NM_006073.4(TRDN):c.128C>T (p.Thr43Met)
|
rs748832633
|
0.00001
|
|
NM_006073.4(TRDN):c.1305G>A (p.Ala435=)
|
rs1170118704
|
0.00001
|
|
NM_006073.4(TRDN):c.1321+1G>A
|
rs775407481
|
0.00001
|
|
NM_006073.4(TRDN):c.1321+2T>C
|
rs772232730
|
0.00001
|
|
NM_006073.4(TRDN):c.134G>T (p.Ser45Ile)
|
rs748395950
|
0.00001
|
|
NM_006073.4(TRDN):c.1383A>G (p.Glu461=)
|
rs1279027887
|
0.00001
|
|
NM_006073.4(TRDN):c.1393A>G (p.Lys465Glu)
|
rs1779922492
|
0.00001
|
|
NM_006073.4(TRDN):c.1395G>C (p.Lys465Asn)
|
rs1323480717
|
0.00001
|
|
NM_006073.4(TRDN):c.1420+2T>C
|
rs1197905831
|
0.00001
|
|
NM_006073.4(TRDN):c.1421-15G>A
|
rs561559208
|
0.00001
|
|
NM_006073.4(TRDN):c.1471+11A>G
|
rs1562265333
|
0.00001
|
|
NM_006073.4(TRDN):c.1471+7T>G
|
rs766394390
|
0.00001
|
|
NM_006073.4(TRDN):c.1487A>T (p.Lys496Ile)
|
rs1219920478
|
0.00001
|
|
NM_006073.4(TRDN):c.1501T>A (p.Ser501Thr)
|
rs370559465
|
0.00001
|
|
NM_006073.4(TRDN):c.1510+10T>C
|
rs762076675
|
0.00001
|
|
NM_006073.4(TRDN):c.1533T>C (p.Pro511=)
|
rs1216108172
|
0.00001
|
|
NM_006073.4(TRDN):c.1537+5G>A
|
rs1418472166
|
0.00001
|
|
NM_006073.4(TRDN):c.1537C>A (p.Gln513Lys)
|
rs757355311
|
0.00001
|
|
NM_006073.4(TRDN):c.1563G>A (p.Lys521=)
|
rs573190326
|
0.00001
|
|
NM_006073.4(TRDN):c.1567+18A>G
|
rs1323353333
|
0.00001
|
|
NM_006073.4(TRDN):c.1567+2T>C
|
rs1384476992
|
0.00001
|
|
NM_006073.4(TRDN):c.1569G>T (p.Glu523Asp)
|
rs1395279008
|
0.00001
|
|
NM_006073.4(TRDN):c.1593A>G (p.Lys531=)
|
rs769926882
|
0.00001
|
|
NM_006073.4(TRDN):c.1597+10G>T
|
rs150165710
|
0.00001
|
|
NM_006073.4(TRDN):c.1597+20A>G
|
rs1334825625
|
0.00001
|
|
NM_006073.4(TRDN):c.1614G>A (p.Val538=)
|
rs566498843
|
0.00001
|
|
NM_006073.4(TRDN):c.1622A>G (p.His541Arg)
|
rs919195476
|
0.00001
|
|
NM_006073.4(TRDN):c.1624+3A>G
|
rs917121544
|
0.00001
|
|
NM_006073.4(TRDN):c.1625-8A>G
|
rs776538507
|
0.00001
|
|
NM_006073.4(TRDN):c.1631A>T (p.Asp544Val)
|
rs1417883411
|
0.00001
|
|
NM_006073.4(TRDN):c.1660C>G (p.His554Asp)
|
rs749072053
|
0.00001
|
|
NM_006073.4(TRDN):c.1673-3C>G
|
rs762200112
|
0.00001
|
|
NM_006073.4(TRDN):c.1682T>A (p.Val561Asp)
|
rs947096255
|
0.00001
|
|
NM_006073.4(TRDN):c.1690C>G (p.Gln564Glu)
|
rs892905883
|
0.00001
|
|
NM_006073.4(TRDN):c.1695A>G (p.Val565=)
|
rs1480745340
|
0.00001
|
|
NM_006073.4(TRDN):c.1738+8A>G
|
rs368262681
|
0.00001
|
|
NM_006073.4(TRDN):c.1765C>A (p.Pro589Thr)
|
rs374035597
|
0.00001
|
|
NM_006073.4(TRDN):c.1766C>A (p.Pro589His)
|
rs371717903
|
0.00001
|
|
NM_006073.4(TRDN):c.176C>T (p.Thr59Met)
|
rs397515459
|
0.00001
|
|
NM_006073.4(TRDN):c.17C>T (p.Ala6Val)
|
rs764897557
|
0.00001
|
|
NM_006073.4(TRDN):c.1805-2A>G
|
rs1417676099
|
0.00001
|
|
NM_006073.4(TRDN):c.1819G>C (p.Val607Leu)
|
rs775485689
|
0.00001
|
|
NM_006073.4(TRDN):c.1853C>T (p.Ser618Phe)
|
rs1270608603
|
0.00001
|
|
NM_006073.4(TRDN):c.1870+5A>T
|
rs1041234944
|
0.00001
|
|
NM_006073.4(TRDN):c.1879G>C (p.Asp627His)
|
rs997711349
|
0.00001
|
|
NM_006073.4(TRDN):c.1904A>G (p.Lys635Arg)
|
rs1179112140
|
0.00001
|
|
NM_006073.4(TRDN):c.1952-5T>C
|
rs780537847
|
0.00001
|
|
NM_006073.4(TRDN):c.1952-6T>A
|
rs1452400104
|
0.00001
|
|
NM_006073.4(TRDN):c.1954G>A (p.Glu652Lys)
|
rs1194412303
|
0.00001
|
|
NM_006073.4(TRDN):c.1962T>G (p.Pro654=)
|
rs1021493361
|
0.00001
|
|
NM_006073.4(TRDN):c.1976-3T>C
|
rs934486291
|
0.00001
|
|
NM_006073.4(TRDN):c.2007A>G (p.Lys669=)
|
rs758215926
|
0.00001
|
|
NM_006073.4(TRDN):c.2015-9A>G
|
rs774914841
|
0.00001
|
|
NM_006073.4(TRDN):c.2027A>G (p.Asp676Gly)
|
rs1775147117
|
0.00001
|
|
NM_006073.4(TRDN):c.2050+9A>G
|
rs778722280
|
0.00001
|
|
NM_006073.4(TRDN):c.2060G>A (p.Ser687Asn)
|
rs1188001301
|
0.00001
|
|
NM_006073.4(TRDN):c.2074G>A (p.Val692Ile)
|
rs1208049678
|
0.00001
|
|
NM_006073.4(TRDN):c.2087G>A (p.Gly696Glu)
|
rs770748006
|
0.00001
|
|
NM_006073.4(TRDN):c.2091C>T (p.Tyr697=)
|
rs749118163
|
0.00001
|
|
NM_006073.4(TRDN):c.2092A>C (p.Asn698His)
|
rs777779916
|
0.00001
|
|
NM_006073.4(TRDN):c.2122C>T (p.Pro708Ser)
|
rs751278695
|
0.00001
|
|
NM_006073.4(TRDN):c.2176C>T (p.Gln726Ter)
|
rs1414689230
|
0.00001
|
|
NM_006073.4(TRDN):c.22+18C>T
|
rs549609889
|
0.00001
|
|
NM_006073.4(TRDN):c.22+4T>C
|
rs757565507
|
0.00001
|
|
NM_006073.4(TRDN):c.232+6T>G
|
rs747825904
|
0.00001
|
|
NM_006073.4(TRDN):c.232+8C>A
|
rs371069080
|
0.00001
|
|
NM_006073.4(TRDN):c.310T>A (p.Tyr104Asn)
|
rs566714157
|
0.00001
|
|
NM_006073.4(TRDN):c.311A>G (p.Tyr104Cys)
|
rs1345111830
|
0.00001
|
|
NM_006073.4(TRDN):c.335A>T (p.Asp112Val)
|
rs772376488
|
0.00001
|
|
NM_006073.4(TRDN):c.360A>T (p.Glu120Asp)
|
rs1433101332
|
0.00001
|
|
NM_006073.4(TRDN):c.371G>A (p.Gly124Asp)
|
rs1781225730
|
0.00001
|
|
NM_006073.4(TRDN):c.398T>C (p.Ile133Thr)
|
rs1218113277
|
0.00001
|
|
NM_006073.4(TRDN):c.463G>A (p.Glu155Lys)
|
rs1386718060
|
0.00001
|
|
NM_006073.4(TRDN):c.480T>G (p.Thr160=)
|
rs1020844292
|
0.00001
|
|
NM_006073.4(TRDN):c.482A>C (p.Lys161Thr)
|
rs886039003
|
0.00001
|
|
NM_006073.4(TRDN):c.485-13T>C
|
rs886061034
|
0.00001
|
|
NM_006073.4(TRDN):c.502G>A (p.Glu168Lys)
|
rs545032318
|
0.00001
|
|
NM_006073.4(TRDN):c.527A>T (p.Glu176Val)
|
rs1174526334
|
0.00001
|
|
NM_006073.4(TRDN):c.529A>T (p.Lys177Ter)
|
rs1468290898
|
0.00001
|
|
NM_006073.4(TRDN):c.541G>T (p.Glu181Ter)
|
rs1198103383
|
0.00001
|
|
NM_006073.4(TRDN):c.558C>A (p.His186Gln)
|
rs1173699706
|
0.00001
|
|
NM_006073.4(TRDN):c.576A>G (p.Lys192=)
|
rs756125825
|
0.00001
|
|
NM_006073.4(TRDN):c.604G>A (p.Ala202Thr)
|
rs1335196025
|
0.00001
|
|
NM_006073.4(TRDN):c.606G>A (p.Ala202=)
|
rs1410476969
|
0.00001
|
|
NM_006073.4(TRDN):c.610+19A>G
|
rs1482036297
|
0.00001
|
|
NM_006073.4(TRDN):c.630T>A (p.Thr210=)
|
rs983727872
|
0.00001
|
|
NM_006073.4(TRDN):c.652A>C (p.Thr218Pro)
|
rs1778805040
|
0.00001
|
|
NM_006073.4(TRDN):c.665T>G (p.Val222Gly)
|
rs758037868
|
0.00001
|
|
NM_006073.4(TRDN):c.754G>T (p.Asp252Tyr)
|
rs749401047
|
0.00001
|
|
NM_006073.4(TRDN):c.755A>G (p.Asp252Gly)
|
rs969285752
|
0.00001
|
|
NM_006073.4(TRDN):c.762G>C (p.Glu254Asp)
|
rs746983339
|
0.00001
|
|
NM_006073.4(TRDN):c.804A>G (p.Ala268=)
|
rs748948862
|
0.00001
|
|
NM_006073.4(TRDN):c.811C>T (p.Arg271Ter)
|
rs1201954479
|
0.00001
|
|
NM_006073.4(TRDN):c.812G>A (p.Arg271Gln)
|
rs772783444
|
0.00001
|
|
NM_006073.4(TRDN):c.826A>G (p.Ile276Val)
|
rs150412658
|
0.00001
|
|
NM_006073.4(TRDN):c.851C>G (p.Pro284Arg)
|
rs755534468
|
0.00001
|
|
NM_006073.4(TRDN):c.853+3A>G
|
rs372783263
|
0.00001
|
|
NM_006073.4(TRDN):c.853+6C>A
|
rs1331217957
|
0.00001
|
|
NM_006073.4(TRDN):c.854-7T>C
|
rs762404582
|
0.00001
|
|
NM_006073.4(TRDN):c.885G>A (p.Pro295=)
|
rs769189541
|
0.00001
|
|
NM_006073.4(TRDN):c.894A>G (p.Gln298=)
|
rs1489564658
|
0.00001
|
|
NM_006073.4(TRDN):c.902G>A (p.Arg301Lys)
|
rs780453421
|
0.00001
|
|
NM_006073.4(TRDN):c.911C>T (p.Pro304Leu)
|
rs750105528
|
0.00001
|
|
NM_006073.4(TRDN):c.931+14T>C
|
rs1776694685
|
0.00001
|
|
NM_006073.4(TRDN):c.931+6T>C
|
rs913713029
|
0.00001
|
|
NM_006073.4(TRDN):c.947A>G (p.Lys316Arg)
|
rs1200632068
|
0.00001
|
|
NM_006073.4(TRDN):c.949A>G (p.Lys317Glu)
|
rs138624936
|
0.00001
|
|
NM_006073.4(TRDN):c.990A>G (p.Lys330=)
|
rs941068115
|
0.00001
|
|
NM_006073.4(TRDN):c.991+10T>G
|
rs1451400888
|
0.00001
|
|
NM_006073.4(TRDN):c.991+11T>G
|
rs1245038855
|
0.00001
|
|
NM_006073.4(TRDN):c.991+3A>G
|
rs961504074
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1000G>A (p.Ala334Thr)
|
rs1195868563
|
0.00001
|
|
NM_013266.4(CTNNA3):c.106A>C (p.Thr36Pro)
|
rs760248318
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1073C>A (p.Thr358Asn)
|
rs751471841
|
0.00001
|
|
NM_013266.4(CTNNA3):c.108del (p.Leu37_Val38insTer)
|
rs1843301169
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1091A>G (p.Asp364Gly)
|
rs753966151
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1094A>G (p.Asn365Ser)
|
rs764419738
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1154T>C (p.Val385Ala)
|
rs149348606
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1172A>T (p.Asp391Val)
|
rs772157953
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1186C>G (p.Leu396Val)
|
rs376091500
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1220G>A (p.Arg407Gln)
|
rs369880246
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1247C>T (p.Ala416Val)
|
rs1032740164
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1256A>G (p.His419Arg)
|
rs1292553472
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1263C>T (p.His421=)
|
rs140907744
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1272G>A (p.Arg424=)
|
rs774491415
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1278A>G (p.Val426=)
|
rs143981286
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1282G>A (p.Val428Met)
|
rs770912324
|
0.00001
|
|
NM_013266.4(CTNNA3):c.130C>G (p.Pro44Ala)
|
rs759426077
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1318G>A (p.Asp440Asn)
|
rs545174357
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1334T>C (p.Val445Ala)
|
rs954678537
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1375-10A>G
|
rs371356128
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1375-15T>A
|
rs368074391
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1382A>G (p.Asn461Ser)
|
rs751206907
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1459G>A (p.Glu487Lys)
|
rs746514516
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1461G>A (p.Glu487=)
|
rs779637505
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1508T>C (p.Ile503Thr)
|
rs770318219
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1509T>C (p.Ile503=)
|
rs375080368
|
0.00001
|
|
NM_013266.4(CTNNA3):c.151C>T (p.Arg51Cys)
|
rs749212121
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1531+9T>G
|
rs746503264
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1532-12A>G
|
rs1421217417
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1566C>T (p.Ile522=)
|
rs2092818980
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1657G>T (p.Gly553Cys)
|
rs371983729
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1724C>G (p.Thr575Arg)
|
rs2092816708
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1733-1G>C
|
rs193155648
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1771G>A (p.Glu591Lys)
|
rs769809500
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1794G>A (p.Leu598=)
|
rs1302194870
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1865G>A (p.Cys622Tyr)
|
rs367616357
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1884+5G>A
|
rs766237431
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1894G>A (p.Glu632Lys)
|
rs1060502222
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1955A>G (p.Gln652Arg)
|
rs768222263
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1962A>G (p.Glu654=)
|
rs750151799
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1978-11A>G
|
rs369905481
|
0.00001
|
|
NM_013266.4(CTNNA3):c.1978-3T>G
|
rs1384475219
|
0.00001
|
|
NM_013266.4(CTNNA3):c.2023G>A (p.Glu675Lys)
|
rs1415628169
|
0.00001
|
|
NM_013266.4(CTNNA3):c.2025G>A (p.Glu675=)
|
rs940633257
|
0.00001
|
|
NM_013266.4(CTNNA3):c.2044A>G (p.Lys682Glu)
|
rs911988614
|
0.00001
|
|
NM_013266.4(CTNNA3):c.2058G>A (p.Lys686=)
|
rs745562600
|
0.00001
|
|
NM_013266.4(CTNNA3):c.2061G>A (p.Leu687=)
|
rs1380267136
|
0.00001
|
|
NM_013266.4(CTNNA3):c.2117A>G (p.Lys706Arg)
|
rs758519231
|
0.00001
|
|
NM_013266.4(CTNNA3):c.2122A>G (p.Met708Val)
|
rs148554495
|
0.00001
|
|
NM_013266.4(CTNNA3):c.2126G>A (p.Cys709Tyr)
|
rs1458100029
|
0.00001
|
|
NM_013266.4(CTNNA3):c.214A>G (p.Lys72Glu)
|
rs371997421
|
0.00001
|
|
NM_013266.4(CTNNA3):c.2174T>A (p.Leu725Gln)
|
rs2078479556
|
0.00001
|
|
NM_013266.4(CTNNA3):c.2205G>A (p.Ala735=)
|
rs745959148
|
0.00001
|
|
NM_013266.4(CTNNA3):c.2217A>T (p.Ser739=)
|
rs778040551
|
0.00001
|
|
NM_013266.4(CTNNA3):c.2349T>C (p.Ser783=)
|
rs769069364
|
0.00001
|
|
NM_013266.4(CTNNA3):c.2377G>A (p.Gly793Arg)
|
rs778606956
|
0.00001
|
|
NM_013266.4(CTNNA3):c.2455G>A (p.Val819Met)
|
rs1239218750
|
0.00001
|
|
NM_013266.4(CTNNA3):c.2494A>T (p.Ile832Phe)
|
rs376310020
|
0.00001
|
|
NM_013266.4(CTNNA3):c.2523C>T (p.Pro841=)
|
rs769407192
|
0.00001
|
|
NM_013266.4(CTNNA3):c.2525G>A (p.Arg842Gln)
|
rs780903815
|
0.00001
|
|
NM_013266.4(CTNNA3):c.2562A>G (p.Ala854=)
|
rs752661010
|
0.00001
|
|
NM_013266.4(CTNNA3):c.2575A>T (p.Ile859Phe)
|
rs766896063
|
0.00001
|
|
NM_013266.4(CTNNA3):c.2616A>C (p.Arg872Ser)
|
rs775103016
|
0.00001
|
|
NM_013266.4(CTNNA3):c.2630A>C (p.Lys877Thr)
|
rs781167292
|
0.00001
|
|
NM_013266.4(CTNNA3):c.313G>T (p.Ala105Ser)
|
rs1261483627
|
0.00001
|
|
NM_013266.4(CTNNA3):c.323T>C (p.Phe108Ser)
|
rs1206597536
|
0.00001
|
|
NM_013266.4(CTNNA3):c.334C>T (p.Pro112Ser)
|
rs1485074194
|
0.00001
|
|
NM_013266.4(CTNNA3):c.362T>A (p.Val121Glu)
|
rs1840603727
|
0.00001
|
|
NM_013266.4(CTNNA3):c.373G>T (p.Ala125Ser)
|
rs550249818
|
0.00001
|
|
NM_013266.4(CTNNA3):c.392C>T (p.Ala131Val)
|
rs774544494
|
0.00001
|
|
NM_013266.4(CTNNA3):c.416C>T (p.Ala139Val)
|
rs528701683
|
0.00001
|
|
NM_013266.4(CTNNA3):c.417G>A (p.Ala139=)
|
rs1204895034
|
0.00001
|
|
NM_013266.4(CTNNA3):c.425T>C (p.Ile142Thr)
|
rs769116433
|
0.00001
|
|
NM_013266.4(CTNNA3):c.480T>C (p.Ser160=)
|
rs766602512
|
0.00001
|
|
NM_013266.4(CTNNA3):c.623G>A (p.Arg208Gln)
|
rs369420715
|
0.00001
|
|
NM_013266.4(CTNNA3):c.646C>T (p.Pro216Ser)
|
rs768170868
|
0.00001
|
|
NM_013266.4(CTNNA3):c.682C>T (p.His228Tyr)
|
rs1342375122
|
0.00001
|
|
NM_013266.4(CTNNA3):c.694G>C (p.Ala232Pro)
|
rs1277837578
|
0.00001
|
|
NM_013266.4(CTNNA3):c.767C>T (p.Ser256Leu)
|
rs1864559262
|
0.00001
|
|
NM_013266.4(CTNNA3):c.770A>G (p.Gln257Arg)
|
rs767234618
|
0.00001
|
|
NM_013266.4(CTNNA3):c.843+8G>A
|
rs755796270
|
0.00001
|
|
NM_013266.4(CTNNA3):c.849A>G (p.Leu283=)
|
rs762976031
|
0.00001
|
|
NM_013266.4(CTNNA3):c.851T>C (p.Ile284Thr)
|
rs1385868561
|
0.00001
|
|
NM_013266.4(CTNNA3):c.889C>T (p.Arg297Ter)
|
rs771161312
|
0.00001
|
|
NM_013266.4(CTNNA3):c.898C>T (p.Leu300=)
|
rs1862478317
|
0.00001
|
|
NM_013266.4(CTNNA3):c.957T>A (p.Cys319Ter)
|
rs1862472784
|
0.00001
|
|
NM_013266.4(CTNNA3):c.967T>A (p.Leu323Ile)
|
rs113836576
|
0.00001
|
|
NM_013266.4(CTNNA3):c.974G>A (p.Arg325Gln)
|
rs773609785
|
0.00001
|
|
NM_013266.4(CTNNA3):c.986T>C (p.Ile329Thr)
|
rs181929603
|
0.00001
|
|
NM_013266.4(CTNNA3):c.99G>A (p.Gln33=)
|
rs1230378653
|
0.00001
|
|
NM_024334.3(TMEM43):c.1000+2T>C
|
rs748618994
|
0.00001
|
|
NM_024334.3(TMEM43):c.1000+6T>C
|
rs773749788
|
0.00001
|
|
NM_024334.3(TMEM43):c.1001-11C>T
|
rs755132712
|
0.00001
|
|
NM_024334.3(TMEM43):c.1037T>C (p.Ile346Thr)
|
rs1286798674
|
0.00001
|
|
NM_024334.3(TMEM43):c.1058T>C (p.Phe353Ser)
|
rs565997790
|
0.00001
|
|
NM_024334.3(TMEM43):c.1067C>T (p.Ala356Val)
|
rs1465084342
|
0.00001
|
|
NM_024334.3(TMEM43):c.1074G>A (p.Ser358=)
|
rs377104916
|
0.00001
|
|
NM_024334.3(TMEM43):c.1085T>G (p.Leu362Arg)
|
rs756256793
|
0.00001
|
|
NM_024334.3(TMEM43):c.1090G>A (p.Val364Met)
|
rs754236206
|
0.00001
|
|
NM_024334.3(TMEM43):c.1115G>A (p.Arg372Gln)
|
rs749140979
|
0.00001
|
|
NM_024334.3(TMEM43):c.1120_1121del (p.Leu374fs)
|
rs746672224
|
0.00001
|
|
NM_024334.3(TMEM43):c.1141G>A (p.Gly381Ser)
|
rs767916602
|
0.00001
|
|
NM_024334.3(TMEM43):c.1158C>T (p.Pro386=)
|
rs1377312502
|
0.00001
|
|
NM_024334.3(TMEM43):c.1177C>T (p.Arg393Trp)
|
rs765762863
|
0.00001
|
|
NM_024334.3(TMEM43):c.1178G>A (p.Arg393Gln)
|
rs758037497
|
0.00001
|
|
NM_024334.3(TMEM43):c.118C>G (p.Leu40Val)
|
rs755682525
|
0.00001
|
|
NM_024334.3(TMEM43):c.136T>C (p.Ser46Pro)
|
rs145510310
|
0.00001
|
|
NM_024334.3(TMEM43):c.13T>C (p.Tyr5His)
|
rs727505249
|
0.00001
|
|
NM_024334.3(TMEM43):c.163-2A>T
|
rs745694031
|
0.00001
|
|
NM_024334.3(TMEM43):c.164G>A (p.Gly55Asp)
|
rs201453637
|
0.00001
|
|
NM_024334.3(TMEM43):c.167G>A (p.Arg56His)
|
rs747164382
|
0.00001
|
|
NM_024334.3(TMEM43):c.168C>T (p.Arg56=)
|
rs768752495
|
0.00001
|
|
NM_024334.3(TMEM43):c.178A>T (p.Thr60Ser)
|
rs1695084121
|
0.00001
|
|
NM_024334.3(TMEM43):c.182C>G (p.Ala61Gly)
|
rs1225730180
|
0.00001
|
|
NM_024334.3(TMEM43):c.186C>G (p.Thr62=)
|
rs773764939
|
0.00001
|
|
NM_024334.3(TMEM43):c.207G>A (p.Ser69=)
|
rs886058030
|
0.00001
|
|
NM_024334.3(TMEM43):c.208C>T (p.Leu70Phe)
|
rs577359875
|
0.00001
|
|
NM_024334.3(TMEM43):c.213G>A (p.Val71=)
|
rs756764750
|
0.00001
|
|
NM_024334.3(TMEM43):c.223G>A (p.Asp75Asn)
|
rs138764471
|
0.00001
|
|
NM_024334.3(TMEM43):c.227G>A (p.Ser76Asn)
|
rs144663367
|
0.00001
|
|
NM_024334.3(TMEM43):c.235A>G (p.Ser79Gly)
|
rs930770110
|
0.00001
|
|
NM_024334.3(TMEM43):c.244C>G (p.Pro82Ala)
|
rs148171303
|
0.00001
|
|
NM_024334.3(TMEM43):c.245C>T (p.Pro82Leu)
|
rs748242385
|
0.00001
|
|
NM_024334.3(TMEM43):c.246G>A (p.Pro82=)
|
rs376098518
|
0.00001
|
|
NM_024334.3(TMEM43):c.251A>G (p.Asn84Ser)
|
rs773605236
|
0.00001
|
|
NM_024334.3(TMEM43):c.26G>A (p.Ser9Asn)
|
rs1695062743
|
0.00001
|
|
NM_024334.3(TMEM43):c.275T>C (p.Ile92Thr)
|
rs555913548
|
0.00001
|
|
NM_024334.3(TMEM43):c.324C>T (p.Val108=)
|
rs371279985
|
0.00001
|
|
NM_024334.3(TMEM43):c.329T>C (p.Leu110Pro)
|
rs1553602985
|
0.00001
|
|
NM_024334.3(TMEM43):c.333G>A (p.Pro111=)
|
rs774276092
|
0.00001
|
|
NM_024334.3(TMEM43):c.344T>C (p.Leu115Pro)
|
rs376182664
|
0.00001
|
|
NM_024334.3(TMEM43):c.346C>T (p.Arg116Trp)
|
rs752588115
|
0.00001
|
|
NM_024334.3(TMEM43):c.354C>T (p.His118=)
|
rs754103544
|
0.00001
|
|
NM_024334.3(TMEM43):c.380C>T (p.Thr127Ile)
|
rs754381041
|
0.00001
|
|
NM_024334.3(TMEM43):c.381T>C (p.Thr127=)
|
rs778409275
|
0.00001
|
|
NM_024334.3(TMEM43):c.392+8G>C
|
rs187725428
|
0.00001
|
|
NM_024334.3(TMEM43):c.392+9T>C
|
rs780392028
|
0.00001
|
|
NM_024334.3(TMEM43):c.401C>A (p.Thr134Asn)
|
rs778405877
|
0.00001
|
|
NM_024334.3(TMEM43):c.42T>C (p.His14=)
|
rs773252383
|
0.00001
|
|
NM_024334.3(TMEM43):c.443-10C>T
|
rs1695115549
|
0.00001
|
|
NM_024334.3(TMEM43):c.443-12C>G
|
rs368555747
|
0.00001
|
|
NM_024334.3(TMEM43):c.47A>T (p.Lys16Ile)
|
rs770619613
|
0.00001
|
|
NM_024334.3(TMEM43):c.483C>T (p.Phe161=)
|
rs772842801
|
0.00001
|
|
NM_024334.3(TMEM43):c.494T>C (p.Ile165Thr)
|
rs1339170856
|
0.00001
|
|
NM_024334.3(TMEM43):c.497G>C (p.Gly166Ala)
|
rs767516734
|
0.00001
|
|
NM_024334.3(TMEM43):c.49G>A (p.Val17Ile)
|
rs370973153
|
0.00001
|
|
NM_024334.3(TMEM43):c.500A>G (p.His167Arg)
|
rs775986881
|
0.00001
|
|
NM_024334.3(TMEM43):c.512+8C>A
|
rs757632483
|
0.00001
|
|
NM_024334.3(TMEM43):c.515C>T (p.Ala172Val)
|
rs553757132
|
0.00001
|
|
NM_024334.3(TMEM43):c.520G>A (p.Ala174Thr)
|
rs397517385
|
0.00001
|
|
NM_024334.3(TMEM43):c.530C>T (p.Ser177Leu)
|
rs1167948235
|
0.00001
|
|
NM_024334.3(TMEM43):c.542C>T (p.Thr181Ile)
|
rs1695131103
|
0.00001
|
|
NM_024334.3(TMEM43):c.548C>G (p.Pro183Arg)
|
rs746116143
|
0.00001
|
|
NM_024334.3(TMEM43):c.560T>C (p.Ile187Thr)
|
rs772317634
|
0.00001
|
|
NM_024334.3(TMEM43):c.583+8T>C
|
rs377518739
|
0.00001
|
|
NM_024334.3(TMEM43):c.584-16A>G
|
rs562436722
|
0.00001
|
|
NM_024334.3(TMEM43):c.592G>A (p.Asp198Asn)
|
rs1383512011
|
0.00001
|
|
NM_024334.3(TMEM43):c.606del (p.Phe203fs)
|
rs753024549
|
0.00001
|
|
NM_024334.3(TMEM43):c.62C>T (p.Ser21Phe)
|
rs794729183
|
0.00001
|
|
NM_024334.3(TMEM43):c.646G>A (p.Val216Met)
|
rs143735210
|
0.00001
|
|
NM_024334.3(TMEM43):c.658C>T (p.Arg220Cys)
|
rs562700595
|
0.00001
|
|
NM_024334.3(TMEM43):c.659G>A (p.Arg220His)
|
rs570836197
|
0.00001
|
|
NM_024334.3(TMEM43):c.65dup (p.Pro23fs)
|
rs1300909566
|
0.00001
|
|
NM_024334.3(TMEM43):c.662G>A (p.Arg221His)
|
rs774735646
|
0.00001
|
|
NM_024334.3(TMEM43):c.664G>A (p.Gly222Arg)
|
rs746183974
|
0.00001
|
|
NM_024334.3(TMEM43):c.686A>G (p.Glu229Gly)
|
rs764671990
|
0.00001
|
|
NM_024334.3(TMEM43):c.700C>T (p.Pro234Ser)
|
rs374202326
|
0.00001
|
|
NM_024334.3(TMEM43):c.704A>C (p.Glu235Ala)
|
rs751419150
|
0.00001
|
|
NM_024334.3(TMEM43):c.705+5G>T
|
rs754716462
|
0.00001
|
|
NM_024334.3(TMEM43):c.734A>G (p.Tyr245Cys)
|
rs150478052
|
0.00001
|
|
NM_024334.3(TMEM43):c.751G>A (p.Asp251Asn)
|
rs375481688
|
0.00001
|
|
NM_024334.3(TMEM43):c.763C>T (p.Leu255=)
|
rs761968722
|
0.00001
|
|
NM_024334.3(TMEM43):c.768C>A (p.Gly256=)
|
rs955293392
|
0.00001
|
|
NM_024334.3(TMEM43):c.781-13G>T
|
rs202207425
|
0.00001
|
|
NM_024334.3(TMEM43):c.781-3C>T
|
rs780142044
|
0.00001
|
|
NM_024334.3(TMEM43):c.78G>A (p.Leu26=)
|
rs1695064079
|
0.00001
|
|
NM_024334.3(TMEM43):c.801G>A (p.Gln267=)
|
rs1258459178
|
0.00001
|
|
NM_024334.3(TMEM43):c.803G>T (p.Arg268Leu)
|
rs769969149
|
0.00001
|
|
NM_024334.3(TMEM43):c.831C>T (p.Thr277=)
|
rs758007704
|
0.00001
|
|
NM_024334.3(TMEM43):c.834G>A (p.Lys278=)
|
rs151009158
|
0.00001
|
|
NM_024334.3(TMEM43):c.840G>C (p.Gly280=)
|
rs755018311
|
0.00001
|
|
NM_024334.3(TMEM43):c.852G>A (p.Leu284=)
|
rs139211731
|
0.00001
|
|
NM_024334.3(TMEM43):c.855C>G (p.Leu285=)
|
rs1337055313
|
0.00001
|
|
NM_024334.3(TMEM43):c.859C>T (p.His287Tyr)
|
rs780299346
|
0.00001
|
|
NM_024334.3(TMEM43):c.873C>T (p.Phe291=)
|
rs1452047536
|
0.00001
|
|
NM_024334.3(TMEM43):c.882+8C>T
|
rs920512368
|
0.00001
|
|
NM_024334.3(TMEM43):c.893A>G (p.His298Arg)
|
rs1285837389
|
0.00001
|
|
NM_024334.3(TMEM43):c.895A>G (p.Arg299Gly)
|
rs757038162
|
0.00001
|
|
NM_024334.3(TMEM43):c.90C>T (p.Ser30=)
|
rs373839281
|
0.00001
|
|
NM_024334.3(TMEM43):c.940G>C (p.Ala314Pro)
|
rs1431861933
|
0.00001
|
|
NM_024334.3(TMEM43):c.959T>G (p.Phe320Cys)
|
rs886787374
|
0.00001
|
|
NM_024334.3(TMEM43):c.961A>G (p.Met321Val)
|
rs397517387
|
0.00001
|
|
NM_024334.3(TMEM43):c.973C>T (p.Leu325Phe)
|
rs373644386
|
0.00001
|
|
NM_024334.3(TMEM43):c.982C>T (p.Arg328Trp)
|
rs561883271
|
0.00001
|
|
NM_024334.3(TMEM43):c.983G>A (p.Arg328Gln)
|
rs185611706
|
0.00001
|
|
NM_024334.3(TMEM43):c.993C>T (p.Tyr331=)
|
rs755042745
|
0.00001
|
|
NM_024334.3(TMEM43):c.997T>G (p.Leu333Val)
|
rs1487754536
|
0.00001
|
|
NM_024334.3(TMEM43):c.99G>A (p.Ser33=)
|
rs147710692
|
0.00001
|
|
NM_024422.6(DSC2):c.*1401C>T
|
rs886053685
|
0.00001
|
|
NM_024422.6(DSC2):c.-132C>A
|
rs886053698
|
0.00001
|
|
NM_024422.6(DSC2):c.-381G>C
|
rs886053701
|
0.00001
|
|
NM_024422.6(DSC2):c.1024A>G (p.Ile342Val)
|
rs746745677
|
0.00001
|
|
NM_024422.6(DSC2):c.1039G>T (p.Asp347Tyr)
|
rs1214725211
|
0.00001
|
|
NM_024422.6(DSC2):c.1057C>A (p.Pro353Thr)
|
rs999869714
|
0.00001
|
|
NM_024422.6(DSC2):c.105G>A (p.Val35=)
|
rs776441487
|
0.00001
|
|
NM_024422.6(DSC2):c.1077+11G>T
|
rs727504868
|
0.00001
|
|
NM_024422.6(DSC2):c.1077+15T>C
|
rs374321855
|
0.00001
|
|
NM_024422.6(DSC2):c.1081G>A (p.Val361Met)
|
rs751810874
|
0.00001
|
|
NM_024422.6(DSC2):c.1103C>T (p.Thr368Ile)
|
rs538663626
|
0.00001
|
|
NM_024422.6(DSC2):c.1110T>C (p.Asp370=)
|
rs1567977994
|
0.00001
|
|
NM_024422.6(DSC2):c.1120T>G (p.Leu374Val)
|
rs1987251997
|
0.00001
|
|
NM_024422.6(DSC2):c.1123C>T (p.Arg375Ter)
|
rs794728075
|
0.00001
|
|
NM_024422.6(DSC2):c.1124G>A (p.Arg375Gln)
|
rs770412621
|
0.00001
|
|
NM_024422.6(DSC2):c.1131T>G (p.Thr377=)
|
rs772815380
|
0.00001
|
|
NM_024422.6(DSC2):c.1172C>A (p.Ala391Asp)
|
rs1300215880
|
0.00001
|
|
NM_024422.6(DSC2):c.120C>A (p.Pro40=)
|
rs773259822
|
0.00001
|
|
NM_024422.6(DSC2):c.1230C>T (p.Ala410=)
|
rs778090203
|
0.00001
|
|
NM_024422.6(DSC2):c.1238A>G (p.Asn413Ser)
|
rs1293927459
|
0.00001
|
|
NM_024422.6(DSC2):c.1309G>C (p.Val437Leu)
|
rs775579662
|
0.00001
|
|
NM_024422.6(DSC2):c.1315A>G (p.Asn439Asp)
|
rs148712725
|
0.00001
|
|
NM_024422.6(DSC2):c.133G>A (p.Ala45Thr)
|
rs1467311353
|
0.00001
|
|
NM_024422.6(DSC2):c.1347A>G (p.Pro449=)
|
rs1157738158
|
0.00001
|
|
NM_024422.6(DSC2):c.1399G>C (p.Glu467Gln)
|
rs1208470556
|
0.00001
|
|
NM_024422.6(DSC2):c.1402G>A (p.Gly468Ser)
|
rs149316362
|
0.00001
|
|
NM_024422.6(DSC2):c.1410G>A (p.Glu470=)
|
rs551265924
|
0.00001
|
|
NM_024422.6(DSC2):c.1421C>T (p.Pro474Leu)
|
rs776398212
|
0.00001
|
|
NM_024422.6(DSC2):c.1435C>T (p.Arg479Cys)
|
rs138761522
|
0.00001
|
|
NM_024422.6(DSC2):c.1438A>C (p.Met480Leu)
|
rs370616107
|
0.00001
|
|
NM_024422.6(DSC2):c.144T>G (p.Leu48=)
|
rs1598592489
|
0.00001
|
|
NM_024422.6(DSC2):c.1469G>A (p.Ser490Asn)
|
rs780446276
|
0.00001
|
|
NM_024422.6(DSC2):c.146T>C (p.Val49Ala)
|
rs1275514075
|
0.00001
|
|
NM_024422.6(DSC2):c.14G>T (p.Arg5Leu)
|
rs899009158
|
0.00001
|
|
NM_024422.6(DSC2):c.1506T>A (p.Ser502Arg)
|
rs756803622
|
0.00001
|
|
NM_024422.6(DSC2):c.1520+6T>C
|
rs1029243199
|
0.00001
|
|
NM_024422.6(DSC2):c.1521-18A>G
|
rs886506694
|
0.00001
|
|
NM_024422.6(DSC2):c.1521-5A>G
|
rs397517392
|
0.00001
|
|
NM_024422.6(DSC2):c.154+6G>A
|
rs778131915
|
0.00001
|
|
NM_024422.6(DSC2):c.1547G>A (p.Gly516Glu)
|
rs1402893994
|
0.00001
|
|
NM_024422.6(DSC2):c.1548G>T (p.Gly516=)
|
rs1465276759
|
0.00001
|
|
NM_024422.6(DSC2):c.155-3C>T
|
rs745988877
|
0.00001
|
|
NM_024422.6(DSC2):c.1560T>C (p.Ile520=)
|
rs1193943164
|
0.00001
|
|
NM_024422.6(DSC2):c.1568A>G (p.Asn523Ser)
|
rs766187198
|
0.00001
|
|
NM_024422.6(DSC2):c.1577C>T (p.Ser526Leu)
|
rs887847751
|
0.00001
|
|
NM_024422.6(DSC2):c.1579A>G (p.Ile527Val)
|
rs756058875
|
0.00001
|
|
NM_024422.6(DSC2):c.1581C>G (p.Ile527Met)
|
rs750329563
|
0.00001
|
|
NM_024422.6(DSC2):c.1596C>T (p.Ser532=)
|
rs1387501743
|
0.00001
|
|
NM_024422.6(DSC2):c.159C>T (p.Asn53=)
|
rs952701114
|
0.00001
|
|
NM_024422.6(DSC2):c.1627G>A (p.Gly543Ser)
|
rs1418248949
|
0.00001
|
|
NM_024422.6(DSC2):c.1628G>A (p.Gly543Asp)
|
rs977709312
|
0.00001
|
|
NM_024422.6(DSC2):c.1634A>G (p.Tyr545Cys)
|
rs776917359
|
0.00001
|
|
NM_024422.6(DSC2):c.1678A>G (p.Thr560Ala)
|
rs1314129882
|
0.00001
|
|
NM_024422.6(DSC2):c.1679C>T (p.Thr560Met)
|
rs772775522
|
0.00001
|
|
NM_024422.6(DSC2):c.1693A>G (p.Ile565Val)
|
rs780712159
|
0.00001
|
|
NM_024422.6(DSC2):c.1697T>C (p.Ile566Thr)
|
rs1399123480
|
0.00001
|
|
NM_024422.6(DSC2):c.1712A>G (p.Asn571Ser)
|
rs1462605063
|
0.00001
|
|
NM_024422.6(DSC2):c.1781T>C (p.Ile594Thr)
|
rs915888072
|
0.00001
|
|
NM_024422.6(DSC2):c.1783G>A (p.Val595Ile)
|
rs1447974524
|
0.00001
|
|
NM_024422.6(DSC2):c.1796C>G (p.Pro599Arg)
|
rs377384219
|
0.00001
|
|
NM_024422.6(DSC2):c.1803G>A (p.Glu601=)
|
rs1288832288
|
0.00001
|
|
NM_024422.6(DSC2):c.1889-10A>G
|
rs1371722130
|
0.00001
|
|
NM_024422.6(DSC2):c.1906T>G (p.Ser636Ala)
|
rs1191039477
|
0.00001
|
|
NM_024422.6(DSC2):c.1907C>T (p.Ser636Phe)
|
rs764355417
|
0.00001
|
|
NM_024422.6(DSC2):c.1910A>G (p.Tyr637Cys)
|
rs758990451
|
0.00001
|
|
NM_024422.6(DSC2):c.1916A>G (p.Asn639Ser)
|
rs369281243
|
0.00001
|
|
NM_024422.6(DSC2):c.1924C>G (p.Pro642Ala)
|
rs368353349
|
0.00001
|
|
NM_024422.6(DSC2):c.1926A>G (p.Pro642=)
|
rs776278152
|
0.00001
|
|
NM_024422.6(DSC2):c.1971C>A (p.Gly657=)
|
rs397517396
|
0.00001
|
|
NM_024422.6(DSC2):c.1981G>A (p.Val661Ile)
|
rs781419827
|
0.00001
|
|
NM_024422.6(DSC2):c.1990T>C (p.Leu664=)
|
rs747173696
|
0.00001
|
|
NM_024422.6(DSC2):c.1996G>A (p.Val666Ile)
|
rs758646191
|
0.00001
|
|
NM_024422.6(DSC2):c.2004G>A (p.Leu668=)
|
rs1986839093
|
0.00001
|
|
NM_024422.6(DSC2):c.2010C>A (p.Asp670Glu)
|
rs1423264468
|
0.00001
|
|
NM_024422.6(DSC2):c.2039G>T (p.Arg680Leu)
|
rs374002111
|
0.00001
|
|
NM_024422.6(DSC2):c.2047C>A (p.Pro683Thr)
|
rs1386709734
|
0.00001
|
|
NM_024422.6(DSC2):c.2068G>T (p.Val690Leu)
|
rs768784624
|
0.00001
|
|
NM_024422.6(DSC2):c.2073A>G (p.Gln691=)
|
rs776903280
|
0.00001
|
|
NM_024422.6(DSC2):c.2082G>T (p.Lys694Asn)
|
rs397517397
|
0.00001
|
|
NM_024422.6(DSC2):c.2084G>A (p.Trp695Ter)
|
rs963715928
|
0.00001
|
|
NM_024422.6(DSC2):c.2104T>C (p.Leu702=)
|
rs753742489
|
0.00001
|
|
NM_024422.6(DSC2):c.2125+18T>G
|
rs750103770
|
0.00001
|
|
NM_024422.6(DSC2):c.2125T>G (p.Cys709Gly)
|
rs755534194
|
0.00001
|
|
NM_024422.6(DSC2):c.2126-11T>C
|
rs1283105269
|
0.00001
|
|
NM_024422.6(DSC2):c.2147G>C (p.Cys716Ser)
|
rs764008863
|
0.00001
|
|
NM_024422.6(DSC2):c.2206A>G (p.Asn736Asp)
|
rs371950232
|
0.00001
|
|
NM_024422.6(DSC2):c.2215G>T (p.Val739Leu)
|
rs780610767
|
0.00001
|
|
NM_024422.6(DSC2):c.2231C>T (p.Ala744Val)
|
rs758269321
|
0.00001
|
|
NM_024422.6(DSC2):c.2244C>T (p.Asp748=)
|
rs886039103
|
0.00001
|
|
NM_024422.6(DSC2):c.2256T>C (p.Ser752=)
|
rs1369056367
|
0.00001
|
|
NM_024422.6(DSC2):c.2258C>T (p.Ala753Val)
|
rs1217851416
|
0.00001
|
|
NM_024422.6(DSC2):c.2294C>T (p.Ala765Val)
|
rs771628564
|
0.00001
|
|
NM_024422.6(DSC2):c.2300G>A (p.Gly767Glu)
|
rs772898155
|
0.00001
|
|
NM_024422.6(DSC2):c.2313C>T (p.Thr771=)
|
rs778571921
|
0.00001
|
|
NM_024422.6(DSC2):c.2318G>C (p.Gly773Ala)
|
rs749174176
|
0.00001
|
|
NM_024422.6(DSC2):c.2328C>G (p.Ile776Met)
|
rs1789054
|
0.00001
|
|
NM_024422.6(DSC2):c.2334C>T (p.Asn778=)
|
rs1282599604
|
0.00001
|
|
NM_024422.6(DSC2):c.2353G>A (p.Glu785Lys)
|
rs752873618
|
0.00001
|
|
NM_024422.6(DSC2):c.2354A>G (p.Glu785Gly)
|
rs769747496
|
0.00001
|
|
NM_024422.6(DSC2):c.2370A>G (p.Gly790=)
|
rs761302953
|
0.00001
|
|
NM_024422.6(DSC2):c.2379C>A (p.Thr793=)
|
rs773813155
|
0.00001
|
|
NM_024422.6(DSC2):c.237C>T (p.Val79=)
|
rs1002646457
|
0.00001
|
|
NM_024422.6(DSC2):c.2382G>A (p.Ser794=)
|
rs761322462
|
0.00001
|
|
NM_024422.6(DSC2):c.2391C>T (p.Cys797=)
|
rs544366164
|
0.00001
|
|
NM_024422.6(DSC2):c.2396G>A (p.Gly799Glu)
|
rs794728071
|
0.00001
|
|
NM_024422.6(DSC2):c.2408A>G (p.His803Arg)
|
rs150124218
|
0.00001
|
|
NM_024422.6(DSC2):c.2416C>T (p.Leu806=)
|
rs758409608
|
0.00001
|
|
NM_024422.6(DSC2):c.2430G>A (p.Arg810=)
|
rs755276378
|
0.00001
|
|
NM_024422.6(DSC2):c.2441C>T (p.Thr814Met)
|
rs756497616
|
0.00001
|
|
NM_024422.6(DSC2):c.2446G>A (p.Val816Met)
|
rs377700521
|
0.00001
|
|
NM_024422.6(DSC2):c.2452A>G (p.Asn818Asp)
|
rs1454999415
|
0.00001
|
|
NM_024422.6(DSC2):c.2472G>A (p.Ser824=)
|
rs374348925
|
0.00001
|
|
NM_024422.6(DSC2):c.2509-8C>T
|
rs772194578
|
0.00001
|
|
NM_024422.6(DSC2):c.2512G>A (p.Val838Met)
|
rs1986695514
|
0.00001
|
|
NM_024422.6(DSC2):c.2545C>T (p.His849Tyr)
|
rs1312909126
|
0.00001
|
|
NM_024422.6(DSC2):c.2588G>A (p.Gly863Glu)
|
rs778423904
|
0.00001
|
|
NM_024422.6(DSC2):c.2592G>A (p.Ser864=)
|
rs1241309506
|
0.00001
|
|
NM_024422.6(DSC2):c.2597C>G (p.Ala866Gly)
|
rs760363798
|
0.00001
|
|
NM_024422.6(DSC2):c.2610T>C (p.Gly870=)
|
rs761875347
|
0.00001
|
|
NM_024422.6(DSC2):c.2623C>T (p.Arg875Ter)
|
rs727504823
|
0.00001
|
|
NM_024422.6(DSC2):c.2626C>G (p.Gln876Glu)
|
rs727504906
|
0.00001
|
|
NM_024422.6(DSC2):c.2642T>A (p.Leu881His)
|
rs1231247825
|
0.00001
|
|
NM_024422.6(DSC2):c.2694C>A (p.Cys898Ter)
|
rs1986684188
|
0.00001
|
|
NM_024422.6(DSC2):c.285C>T (p.Thr95=)
|
rs773333125
|
0.00001
|
|
NM_024422.6(DSC2):c.325A>C (p.Ile109Leu)
|
rs1256252633
|
0.00001
|
|
NM_024422.6(DSC2):c.327A>G (p.Ile109Met)
|
rs373305929
|
0.00001
|
|
NM_024422.6(DSC2):c.34_35del (p.Gly12fs)
|
rs1395367133
|
0.00001
|
|
NM_024422.6(DSC2):c.354+9G>A
|
rs1397580089
|
0.00001
|
|
NM_024422.6(DSC2):c.355-3G>T
|
rs975997446
|
0.00001
|
|
NM_024422.6(DSC2):c.363G>T (p.Lys121Asn)
|
rs762877422
|
0.00001
|
|
NM_024422.6(DSC2):c.373A>G (p.Thr125Ala)
|
rs369061469
|
0.00001
|
|
NM_024422.6(DSC2):c.396C>T (p.Arg132=)
|
rs773053517
|
0.00001
|
|
NM_024422.6(DSC2):c.425G>C (p.Cys142Ser)
|
rs1478081073
|
0.00001
|
|
NM_024422.6(DSC2):c.429G>A (p.Ser143=)
|
rs542638302
|
0.00001
|
|
NM_024422.6(DSC2):c.435A>G (p.Leu145=)
|
rs1167062231
|
0.00001
|
|
NM_024422.6(DSC2):c.448G>C (p.Gly150Arg)
|
rs1220979594
|
0.00001
|
|
NM_024422.6(DSC2):c.474+5C>T
|
rs397517400
|
0.00001
|
|
NM_024422.6(DSC2):c.474+9T>C
|
rs1400346935
|
0.00001
|
|
NM_024422.6(DSC2):c.475-4C>T
|
rs1431130615
|
0.00001
|
|
NM_024422.6(DSC2):c.478C>A (p.Gln160Lys)
|
rs374844700
|
0.00001
|
|
NM_024422.6(DSC2):c.47G>A (p.Arg16Gln)
|
rs869025386
|
0.00001
|
|
NM_024422.6(DSC2):c.488C>T (p.Thr163Met)
|
rs758759298
|
0.00001
|
|
NM_024422.6(DSC2):c.506T>C (p.Ile169Thr)
|
rs1185834011
|
0.00001
|
|
NM_024422.6(DSC2):c.508T>C (p.Tyr170His)
|
rs1484093917
|
0.00001
|
|
NM_024422.6(DSC2):c.509A>G (p.Tyr170Cys)
|
rs759910399
|
0.00001
|
|
NM_024422.6(DSC2):c.517A>T (p.Ile173Leu)
|
rs766855728
|
0.00001
|
|
NM_024422.6(DSC2):c.537C>A (p.Asp179Glu)
|
rs1987521149
|
0.00001
|
|
NM_024422.6(DSC2):c.540A>G (p.Gln180=)
|
rs1291095173
|
0.00001
|
|
NM_024422.6(DSC2):c.549G>T (p.Arg183=)
|
rs774025474
|
0.00001
|
|
NM_024422.6(DSC2):c.561T>C (p.Tyr187=)
|
rs749063028
|
0.00001
|
|
NM_024422.6(DSC2):c.585G>A (p.Leu195=)
|
rs912124448
|
0.00001
|
|
NM_024422.6(DSC2):c.608G>A (p.Arg203His)
|
rs758527425
|
0.00001
|
|
NM_024422.6(DSC2):c.60G>A (p.Leu20=)
|
rs1201166808
|
0.00001
|
|
NM_024422.6(DSC2):c.617A>G (p.Tyr206Cys)
|
rs753004247
|
0.00001
|
|
NM_024422.6(DSC2):c.627T>C (p.Phe209=)
|
rs754168300
|
0.00001
|
|
NM_024422.6(DSC2):c.62C>A (p.Thr21Asn)
|
rs931909783
|
0.00001
|
|
NM_024422.6(DSC2):c.631-2A>G
|
rs397514042
|
0.00001
|
|
NM_024422.6(DSC2):c.631-3C>T
|
rs1262481741
|
0.00001
|
|
NM_024422.6(DSC2):c.638C>T (p.Ala213Val)
|
rs1299475740
|
0.00001
|
|
NM_024422.6(DSC2):c.646A>G (p.Thr216Ala)
|
rs755298693
|
0.00001
|
|
NM_024422.6(DSC2):c.687A>G (p.Leu229=)
|
rs371192108
|
0.00001
|
|
NM_024422.6(DSC2):c.69+1G>A
|
rs1245669690
|
0.00001
|
|
NM_024422.6(DSC2):c.697A>G (p.Ile233Val)
|
rs886039077
|
0.00001
|
|
NM_024422.6(DSC2):c.70-9A>G
|
rs752022380
|
0.00001
|
|
NM_024422.6(DSC2):c.70A>G (p.Ile24Val)
|
rs1228372400
|
0.00001
|
|
NM_024422.6(DSC2):c.746C>A (p.Thr249Asn)
|
rs1987447409
|
0.00001
|
|
NM_024422.6(DSC2):c.775+8C>A
|
rs757814061
|
0.00001
|
|
NM_024422.6(DSC2):c.777C>T (p.Gly259=)
|
rs565694087
|
0.00001
|
|
NM_024422.6(DSC2):c.825G>A (p.Thr275=)
|
rs767301887
|
0.00001
|
|
NM_024422.6(DSC2):c.836G>A (p.Arg279His)
|
rs775614779
|
0.00001
|
|
NM_024422.6(DSC2):c.872C>T (p.Ser291Leu)
|
rs755952123
|
0.00001
|
|
NM_024422.6(DSC2):c.880C>A (p.Leu294Ile)
|
rs761796202
|
0.00001
|
|
NM_024422.6(DSC2):c.901A>G (p.Thr301Ala)
|
rs576466497
|
0.00001
|
|
NM_024422.6(DSC2):c.942+22C>G
|
rs748709100
|
0.00001
|
|
NM_024422.6(DSC2):c.949G>A (p.Asp317Asn)
|
rs769219956
|
0.00001
|
|
NM_024422.6(DSC2):c.975A>G (p.Val325=)
|
rs1411764092
|
0.00001
|
|
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)
|
rs386134243
|
0.00001
|
|
NM_170707.4(LMNA):c.725C>T (p.Ala242Val)
|
rs397517906
|
0.00001
|
|
NM_201596.3(CACNB2):c.503G>A (p.Cys168Tyr)
|
rs773215003
|
0.00001
|
|
GRCh37/hg19 1q43(chr1:237413038-237540797)
|
|
|
|
NC_000001.10:g.(?_116243862)_(116287553_?)dup
|
|
|
|
NC_000001.10:g.(?_116243862)_(116311162_?)dup
|
|
|
|
NC_000001.10:g.(?_116260441)_(116311162_?)dup
|
|
|
|
NC_000001.10:g.(?_116269603)_(116269753_?)del
|
|
|
|
NC_000001.10:g.(?_116275502)_(116280976_?)dup
|
|
|
|
NC_000001.10:g.(?_116310909)_(116947066_?)dup
|
|
|
|
NC_000001.10:g.(?_236849954)_(237551503_?)dup
|
|
|
|
NC_000001.10:g.(?_236902582)_(237995947_?)del
|
|
|
|
NC_000001.10:g.(?_237205812)_(237205879_?)del
|
|
|
|
NC_000001.10:g.(?_237205822)_(237205889_?)dup
|
|
|
|
NC_000001.10:g.(?_237205822)_(237519305_?)dup
|
|
|
|
NC_000001.10:g.(?_237433777)_(237433936_?)dup
|
|
|
|
NC_000001.10:g.(?_237433777)_(237527692_?)dup
|
|
|
|
NC_000001.10:g.(?_237433777)_(237540755_?)dup
|
|
|
|
NC_000001.10:g.(?_237433791)_(237519291_?)dup
|
|
|
|
NC_000001.10:g.(?_237519245)_(237519305_?)del
|
|
|
|
NC_000001.10:g.(?_237519245)_(237586568_?)dup
|
|
|
|
NC_000001.10:g.(?_237519255)_(237758967_?)del
|
|
|
|
NC_000001.10:g.(?_237538007)_(237714001_?)dup
|
|
|
|
NC_000001.10:g.(?_237580329)_(237995947_?)dup
|
|
|
|
NC_000001.10:g.(?_237711721)_(237982502_?)dup
|
|
|
|
NC_000001.10:g.(?_237753073)_(237924348_?)del
|
|
|
|
NC_000001.10:g.(?_237765305)_(237995947_?)dup
|
|
|
|
NC_000001.10:g.(?_237796858)_(237995947_?)dup
|
|
|
|
NC_000001.10:g.(?_237889553)_(237995947_?)dup
|
|
|
|
NC_000001.10:g.(?_237893540)_(237995947_?)dup
|
|
|
|
NC_000001.10:g.(?_237919568)_(237921096_?)del
|
|
|
|
NC_000001.10:g.(?_237923056)_(237995947_?)del
|
|
|
|
NC_000001.10:g.(?_237941946)_(237995947_?)del
|
|
|
|
NC_000001.10:g.(?_237965136)_(237995947_?)dup
|
|
|
|
NC_000001.10:g.(?_237982316)_(237982512_?)del
|
|
|
|
NC_000001.11:g.(?_237270487)_(237832657_?)del
|
|
|
|
NC_000001.11:g.(?_237270487)_(237832657_?)dup
|
|
|
|
NC_000001.11:g.(?_237441309)_(237454584_?)del
|
|
|
|
NC_000001.11:g.(?_237441309)_(237456745_?)del
|
|
|
|
NC_000001.11:g.(?_237666502)_(237794007_?)del
|
|
|
|
NC_000001.11:g.(?_237756278)_(237832657_?)del
|
|
|
|
NC_000001.11:g.(?_237770797)_(237773658_?)del
|
|
|
|
NC_000003.11:g.(?_14166440)_(14185180_?)dup
|
|
|
|
NC_000003.11:g.(?_14166684)_(14183305_?)del
|
|
|
|
NC_000003.11:g.(?_14166694)_(14183295_?)dup
|
|
|
|
NC_000003.11:g.(?_14180660)_(14180817_?)del
|
|
|
|
NC_000003.12:g.(?_14125184)_(14141805_?)dup
|
|
|
|
NC_000006.11:g.(?_123539726)_(123825066_?)dup
|
|
|
|
NC_000006.11:g.(?_123539746)_(123833527_?)del
|
|
|
|
NC_000006.11:g.(?_123539746)_(123957920_?)del
|
|
|
|
NC_000006.11:g.(?_123539746)_(123957920_?)dup
|
|
|
|
NC_000006.11:g.(?_123573537)_(123573600_?)del
|
|
|
|
NC_000006.11:g.(?_123573537)_(123595835_?)del
|
|
|
|
NC_000006.11:g.(?_123580749)_(123595835_?)dup
|
|
|
|
NC_000006.11:g.(?_123581737)_(123581803_?)del
|
|
|
|
NC_000006.11:g.(?_123637582)_(123673751_?)dup
|
|
|
|
NC_000006.11:g.(?_123637592)_(123637650_?)del
|
|
|
|
NC_000006.11:g.(?_123658744)_(123760168_?)dup
|
|
|
|
NC_000006.11:g.(?_123687260)_(123687347_?)del
|
|
|
|
NC_000006.11:g.(?_123703243)_(123703312_?)del
|
|
|
|
NC_000006.11:g.(?_123714759)_(123786138_?)dup
|
|
|
|
NC_000006.11:g.(?_123759188)_(123760168_?)del
|
|
|
|
NC_000006.11:g.(?_123786031)_(123786148_?)del
|
|
|
|
NC_000006.11:g.(?_123786031)_(123786148_?)dup
|
|
|
|
NC_000006.11:g.(?_123818318)_(123825066_?)del
|
|
|
|
NC_000006.11:g.(?_123833428)_(123837371_?)del
|
|
|
|
NC_000006.11:g.(?_123851631)_(123851730_?)del
|
|
|
|
NC_000006.11:g.(?_123851631)_(123868537_?)del
|
|
|
|
NC_000006.11:g.(?_7542149)_(7542338_?)del
|
|
|
|
NC_000006.11:g.(?_7542149)_(7542338_?)dup
|
|
|
|
NC_000006.11:g.(?_7542149)_(7586111_?)del
|
|
|
|
NC_000006.11:g.(?_7542149)_(7880576_?)dup
|
|
|
|
NC_000006.11:g.(?_7552967)_(7579627_?)del
|
|
|
|
NC_000006.11:g.(?_7565582)_(7568149_?)del
|
|
|
|
NC_000006.11:g.(?_7565582)_(7569583_?)del
|
|
|
|
NC_000006.11:g.(?_7567563)_(7584301_?)del
|
|
|
|
NC_000006.11:g.(?_7576220)_(7581055_?)del
|
|
|
|
NC_000006.11:g.(?_7579782)_(7581194_?)del
|
|
|
|
NC_000006.11:g.(?_7582855)_(7586131_?)del
|
|
|
|
NC_000006.11:g.(?_7582865)_(7586121_?)del
|
|
|
|
NC_000006.11:g.(?_7583161)_(7587903_?)del
|
|
|
|
NC_000006.12:g.(?_123218591)_(123224141_?)del
|
|
|
|
NC_000006.12:g.(?_123438043)_(123465003_?)del
|
|
|
|
NC_000006.12:g.(?_123497183)_(123512372_?)dup
|
|
|
|
NC_000006.12:g.(?_7541896)_(7585898_?)del
|
|
|
|
NC_000006.12:g.(?_7541906)_(7585888_?)del
|
|
|
|
NC_000006.12:g.(?_7570417)_(7585898_?)del
|
|
|
|
NC_000006.12:g.(?_7570427)_(7585888_?)del
|
|
|
|
NC_000006.12:g.123503896TCTGT[1]
|
|
|
|
NC_000010.10:g.(?_67680088)_(67680395_?)del
|
|
|
|
NC_000010.10:g.(?_67680088)_(68535302_?)dup
|
|
|
|
NC_000010.10:g.(?_67726350)_(67748575_?)del
|
|
|
|
NC_000010.10:g.(?_67829046)_(68139130_?)dup
|
|
|
|
NC_000010.10:g.(?_67829046)_(68280551_?)del
|
|
|
|
NC_000010.10:g.(?_67829056)_(67829257_?)del
|
|
|
|
NC_000010.10:g.(?_67862895)_(67863027_?)del
|
|
|
|
NC_000010.10:g.(?_67862905)_(68535292_?)del
|
|
|
|
NC_000010.10:g.(?_68040208)_(68040399_?)dup
|
|
|
|
NC_000010.10:g.(?_68040208)_(68381562_?)dup
|
|
|
|
NC_000010.10:g.(?_68040218)_(68040389_?)del
|
|
|
|
NC_000010.10:g.(?_68138890)_(68280551_?)del
|
|
|
|
NC_000010.10:g.(?_68138890)_(68381562_?)dup
|
|
|
|
NC_000010.10:g.(?_68280355)_(68280551_?)dup
|
|
|
|
NC_000010.10:g.(?_68280355)_(68526194_?)del
|
|
|
|
NC_000010.10:g.(?_68280355)_(68535302_?)del
|
|
|
|
NC_000010.10:g.(?_68280355)_(68535302_?)dup
|
|
|
|
NC_000010.10:g.(?_68381430)_(68526194_?)del
|
|
|
|
NC_000010.10:g.(?_68381430)_(68535302_?)del
|
|
|
|
NC_000010.10:g.(?_68381430)_(69407271_?)dup
|
|
|
|
NC_000010.10:g.(?_68507421)_(68526194_?)del
|
|
|
|
NC_000010.10:g.(?_68535192)_(68535292_?)del
|
|
|
|
NC_000010.10:g.(?_68940055)_(68940298_?)dup
|
|
|
|
NC_000010.10:g.(?_68940065)_(68940288_?)dup
|
|
|
|
NC_000010.10:g.(?_68940069)_(68979634_?)dup
|
|
|
|
NC_000010.10:g.(?_69281580)_(69407271_?)del
|
|
|
|
NC_000010.10:g.(?_69366595)_(69366827_?)del
|
|
|
|
NC_000010.10:g.(?_69366595)_(69407271_?)dup
|
|
|
|
NC_000010.10:g.(?_69366605)_(69366817_?)del
|
|
|
|
NC_000010.10:g.(?_69366605)_(69407286_?)dup
|
|
|
|
NC_000010.11:g.(?_66280450)_(66280641_?)del
|
|
|
|
NC_000010.11:g.(?_66379132)_(66379372_?)del
|
|
|
|
NC_000010.11:g.(?_66520597)_(66520793_?)del
|
|
|
|
NC_000010.11:g.(?_66520597)_(66621804_?)del
|
|
|
|
NC_000010.11:g.(?_66520607)_(66520783_?)del
|
|
|
|
NC_000010.11:g.(?_66520607)_(66621794_?)del
|
|
|
|
NC_000010.11:g.(?_66520607)_(66775534_?)del
|
|
|
|
NC_000010.11:g.(?_66621672)_(66621804_?)del
|
|
|
|
NC_000010.11:g.(?_66621682)_(66621794_?)del
|
|
|
|
NC_000010.11:g.(?_66621682)_(66775534_?)del
|
|
|
|
NC_000010.11:g.(?_66766244)_(66775544_?)del
|
|
|
|
NC_000010.11:g.(?_66766254)_(66775534_?)del
|
|
|
|
NC_000010.11:g.(?_66775424)_(66775544_?)del
|
|
|
|
NC_000010.11:g.(?_67539493)_(67539679_?)del
|
|
|
|
NC_000010.11:g.67606900_67606901insAlu
|
|
|
|
NC_000012.11:g.(?_32729272)_(33049685_?)dup
|
|
|
|
NC_000012.11:g.(?_32729292)_(33049665_?)dup
|
|
|
|
NC_000012.11:g.(?_32772622)_(33049675_?)dup
|
|
|
|
NC_000012.11:g.(?_32945338)_(32977116_?)del
|
|
|
|
NC_000012.11:g.(?_32945348)_(32949242_?)del
|
|
|
|
NC_000012.11:g.(?_32945348)_(33049675_?)dup
|
|
|
|
NC_000012.11:g.(?_32945358)_(32945685_?)del
|
|
|
|
NC_000012.11:g.(?_32945358)_(32949252_?)del
|
|
|
|
NC_000012.11:g.(?_32945358)_(32949252_?)dup
|
|
|
|
NC_000012.11:g.(?_32945558)_(32949252_?)dup
|
|
|
|
NC_000012.11:g.(?_32949023)_(32949252_?)del
|
|
|
|
NC_000012.11:g.(?_32949023)_(32955510_?)del
|
|
|
|
NC_000012.11:g.(?_32949033)_(32949242_?)del
|
|
|
|
NC_000012.11:g.(?_32949033)_(32955500_?)del
|
|
|
|
NC_000012.11:g.(?_32974270)_(32977116_?)dup
|
|
|
|
NC_000012.11:g.(?_32975391)_(32977106_?)dup
|
|
|
|
NC_000012.11:g.(?_32993942)_(33003927_?)dup
|
|
|
|
NC_000012.11:g.(?_33003680)_(33003927_?)del
|
|
|
|
NC_000012.11:g.(?_33003694)_(33003913_?)del
|
|
|
|
NC_000012.11:g.(?_33021841)_(33022016_?)del
|
|
|
|
NC_000012.11:g.(?_33021841)_(33031986_?)del
|
|
|
|
NC_000012.11:g.(?_33021841)_(33031986_?)dup
|
|
|
|
NC_000012.11:g.(?_33021841)_(33049665_?)dup
|
|
|
|
NC_000012.11:g.(?_33021841)_(33049685_?)dup
|
|
|
|
NC_000012.11:g.(?_33021851)_(33031976_?)del
|
|
|
|
NC_000012.11:g.(?_33030760)_(33031986_?)del
|
|
|
|
NC_000012.11:g.(?_33030760)_(33049665_?)del
|
|
|
|
NC_000012.11:g.(?_33049423)_(33049665_?)dup
|
|
|
|
NC_000012.12:g.(?_32792404)_(32896751_?)del
|
|
|
|
NC_000012.12:g.(?_32792414)_(32796308_?)dup
|
|
|
|
NC_000012.12:g.(?_32792414)_(32896741_?)del
|
|
|
|
NC_000012.12:g.(?_32792634)_(32796308_?)dup
|
|
|
|
NC_000012.12:g.(?_32802383)_(32802576_?)del
|
|
|
|
NC_000012.12:g.(?_32824025)_(32824182_?)del
|
|
|
|
NC_000012.12:g.(?_32824035)_(32824172_?)del
|
|
|
|
NC_000012.12:g.(?_32850756)_(32850983_?)del
|
|
|
|
NC_000012.12:g.(?_32850756)_(32850983_?)dup
|
|
|
|
NC_000012.12:g.(?_32868917)_(32869072_?)del
|
|
|
|
NC_000012.12:g.(?_32877836)_(32879042_?)del
|
|
|
|
NC_000012.12:g.(?_32877836)_(32896741_?)del
|
|
|
|
NC_000012.12:g.(?_32877846)_(32879032_?)del
|
|
|
|
NC_000012.12:g.32896640_32896911del
|
|
|
|
NC_000017.10:g.(?_39911986)_(39928116_?)dup
|
|
|
|
NC_000017.11:g.(?_41771637)_(41771864_?)del
|
|
|
|
NC_000018.10:g.(?_31068005)_(31070860_?)del
|
|
|
|
NC_000018.10:g.(?_31070706)_(31070870_?)del
|
|
|
|
NC_000018.10:g.(?_31092081)_(31101991_?)del
|
|
|
|
NC_000018.10:g.(?_31498242)_(31598685_?)dup
|
|
|
|
NC_000018.10:g.(?_31519793)_(31519947_?)del
|
|
|
|
NC_000018.9:g.(?_28647961)_(28681954_?)dup
|
|
|
|
NC_000018.9:g.(?_28647971)_(28673616_?)dup
|
|
|
|
NC_000018.9:g.(?_28647981)_(28681934_?)dup
|
|
|
|
NC_000018.9:g.(?_28654629)_(28673626_?)dup
|
|
|
|
NC_000018.9:g.(?_28673502)_(28673626_?)dup
|
|
|
|
NC_000018.9:g.(?_28673522)_(28673606_?)del
|
|
|
|
NC_000018.9:g.(?_28681846)_(28681934_?)del
|
|
|
|
NC_000018.9:g.(?_29078215)_(29178638_?)dup
|
|
|
|
NC_000018.9:g.(?_29098182)_(29178638_?)dup
|
|
|
|
NC_000018.9:g.(?_29099325)_(29099910_?)del
|
|
|
|
NC_000018.9:g.(?_29099746)_(29099920_?)del
|
|
|
|
NC_000018.9:g.(?_29115213)_(29126706_?)del
|
|
|
|
NC_000018.9:g.(?_29115223)_(29118951_?)del
|
|
|
|
NC_000018.9:g.(?_29118704)_(29126716_?)dup
|
|
|
|
NC_000018.9:g.(?_29122463)_(29122835_?)del
|
|
|
|
NM_000238.4(KCNH2):c.473-7C>G
|
rs146570628
|
|
|
NM_000256.3(MYBPC3):c.177_187del (p.Glu60fs)
|
rs397515925
|
|
|
NM_000256.3(MYBPC3):c.3118T>G (p.Ser1040Ala)
|
rs730880139
|
|
|
NM_000256.3(MYBPC3):c.503T>C (p.Val168Ala)
|
rs727505267
|
|
|
NM_000257.4(MYH7):c.3715A>G (p.Ile1239Val)
|
rs1114167342
|
|
|
NM_000335.5(SCN5A):c.1247A>G (p.Tyr416Cys)
|
rs372395294
|
|
|
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp)
|
rs36210423
|
|
|
NM_000335.5(SCN5A):c.1840C>T (p.Pro614Ser)
|
rs730880204
|
|
|
NM_000335.5(SCN5A):c.2184_2186del (p.Leu729del)
|
rs1060499940
|
|
|
NM_000335.5(SCN5A):c.2383G>C (p.Glu795Gln)
|
|
|
|
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter)
|
rs137854613
|
|
|
NM_000335.5(SCN5A):c.6045G>A (p.Val2015=)
|
rs1060499941
|
|
|
NM_001005242.3(PKP2):c.*1023C>T
|
rs886049309
|
|
|
NM_001005242.3(PKP2):c.*1048G>T
|
rs886049308
|
|
|
NM_001005242.3(PKP2):c.*1159A>T
|
rs886049307
|
|
|
NM_001005242.3(PKP2):c.*1199del
|
rs11476598
|
|
|
NM_001005242.3(PKP2):c.*1311del
|
rs3833501
|
|
|
NM_001005242.3(PKP2):c.*1527G>A
|
rs1238128272
|
|
|
NM_001005242.3(PKP2):c.*1602A>G
|
rs760973876
|
|
|
NM_001005242.3(PKP2):c.*180C>G
|
rs886049319
|
|
|
NM_001005242.3(PKP2):c.*252A>G
|
rs886049316
|
|
|
NM_001005242.3(PKP2):c.*320C>A
|
rs886049315
|
|
|
NM_001005242.3(PKP2):c.*400A>G
|
rs529644235
|
|
|
NM_001005242.3(PKP2):c.*429A>T
|
rs1956071585
|
|
|
NM_001005242.3(PKP2):c.*578_*583dup
|
rs137947383
|
|
|
NM_001005242.3(PKP2):c.*579C>A
|
rs886049314
|
|
|
NM_001005242.3(PKP2):c.*753C>G
|
rs886049313
|
|
|
NM_001005242.3(PKP2):c.*910C>A
|
rs886049312
|
|
|
NM_001005242.3(PKP2):c.*944C>A
|
rs6488090
|
|
|
NM_001005242.3(PKP2):c.*953C>A
|
rs886049311
|
|
|
NM_001005242.3(PKP2):c.*962C>A
|
rs886049310
|
|
|
NM_001005242.3(PKP2):c.-15G>T
|
rs886049325
|
|
|
NM_001005242.3(PKP2):c.-9_12dup (p.Pro4_Gly5insThrGlyProMetAlaAlaPro)
|
rs770443705
|
|
|
NM_001005242.3(PKP2):c.1002T>C (p.Thr334=)
|
rs2137945629
|
|
|
NM_001005242.3(PKP2):c.1002_1003del (p.Arg336fs)
|
|
|
|
NM_001005242.3(PKP2):c.1003G>T (p.Glu335Ter)
|
rs1396519956
|
|
|
NM_001005242.3(PKP2):c.1019C>T (p.Thr340Ile)
|
rs1592762999
|
|
|
NM_001005242.3(PKP2):c.101C>G (p.Ser34Cys)
|
rs1957128054
|
|
|
NM_001005242.3(PKP2):c.1020T>C (p.Thr340=)
|
|
|
|
NM_001005242.3(PKP2):c.1029G>A (p.Gln343=)
|
|
|
|
NM_001005242.3(PKP2):c.102C>T (p.Ser34=)
|
rs2138010805
|
|
|
NM_001005242.3(PKP2):c.102dup (p.Glu35fs)
|
|
|
|
NM_001005242.3(PKP2):c.1033G>A (p.Gly345Arg)
|
rs1592762989
|
|
|
NM_001005242.3(PKP2):c.1034+13C>G
|
|
|
|
NM_001005242.3(PKP2):c.1034+19C>T
|
|
|
|
NM_001005242.3(PKP2):c.1034+1G>C
|
rs869025496
|
|
|
NM_001005242.3(PKP2):c.1034+1G>T
|
rs869025496
|
|
|
NM_001005242.3(PKP2):c.1034+1del
|
rs1555148011
|
|
|
NM_001005242.3(PKP2):c.1034+4del
|
rs397516983
|
|
|
NM_001005242.3(PKP2):c.1034+9C>G
|
|
|
|
NM_001005242.3(PKP2):c.1034G>A (p.Gly345Glu)
|
|
|
|
NM_001005242.3(PKP2):c.1035-13C>T
|
rs1189037360
|
|
|
NM_001005242.3(PKP2):c.1035-18C>T
|
rs1373621892
|
|
|
NM_001005242.3(PKP2):c.1035-1G>A
|
rs1555147210
|
|
|
NM_001005242.3(PKP2):c.1035-20dup
|
|
|
|
NM_001005242.3(PKP2):c.1035-8_1035-5del
|
|
|
|
NM_001005242.3(PKP2):c.1035G>A (p.Gly345=)
|
rs905404609
|
|
|
NM_001005242.3(PKP2):c.1039G>A (p.Ala347Thr)
|
rs1164976319
|
|
|
NM_001005242.3(PKP2):c.1046T>G (p.Met349Arg)
|
|
|
|
NM_001005242.3(PKP2):c.1048G>A (p.Glu350Lys)
|
rs147264025
|
|
|
NM_001005242.3(PKP2):c.1058T>C (p.Leu353Pro)
|
rs1956875248
|
|
|
NM_001005242.3(PKP2):c.1058_1059del (p.Leu353fs)
|
|
|
|
NM_001005242.3(PKP2):c.1059G>A (p.Leu353=)
|
|
|
|
NM_001005242.3(PKP2):c.1066G>C (p.Ala356Pro)
|
rs1956875094
|
|
|
NM_001005242.3(PKP2):c.1073G>A (p.Ser358Asn)
|
rs1215591759
|
|
|
NM_001005242.3(PKP2):c.1075A>G (p.Met359Val)
|
rs1336886985
|
|
|
NM_001005242.3(PKP2):c.1079T>C (p.Leu360Pro)
|
rs730880180
|
|
|
NM_001005242.3(PKP2):c.107C>T (p.Ala36Val)
|
|
|
|
NM_001005242.3(PKP2):c.1081G>A (p.Glu361Lys)
|
|
|
|
NM_001005242.3(PKP2):c.1090C>T (p.His364Tyr)
|
rs2137919820
|
|
|
NM_001005242.3(PKP2):c.10C>A (p.Pro4Thr)
|
|
|
|
NM_001005242.3(PKP2):c.1101A>G (p.Pro367=)
|
rs776927054
|
|
|
NM_001005242.3(PKP2):c.1104C>G (p.Ser368=)
|
rs892666132
|
|
|
NM_001005242.3(PKP2):c.1107G>A (p.Arg369=)
|
|
|
|
NM_001005242.3(PKP2):c.1114G>A (p.Ala372Thr)
|
rs200586695
|
|
|
NM_001005242.3(PKP2):c.1114G>C (p.Ala372Pro)
|
rs200586695
|
|
|
NM_001005242.3(PKP2):c.1117G>A (p.Ala373Thr)
|
rs2137919581
|
|
|
NM_001005242.3(PKP2):c.1120G>T (p.Ala374Ser)
|
|
|
|
NM_001005242.3(PKP2):c.1122T>C (p.Ala374=)
|
rs2137919557
|
|
|
NM_001005242.3(PKP2):c.1123A>T (p.Thr375Ser)
|
rs2137919547
|
|
|
NM_001005242.3(PKP2):c.1125_1132del (p.Phe376fs)
|
rs794729124
|
|
|
NM_001005242.3(PKP2):c.1126_1131dup (p.Ile377_Gln378insPheIle)
|
|
|
|
NM_001005242.3(PKP2):c.1127del (p.Phe376fs)
|
rs2137919527
|
|
|
NM_001005242.3(PKP2):c.1133A>G (p.Gln378Arg)
|
rs1956873618
|
|
|
NM_001005242.3(PKP2):c.1133A>T (p.Gln378Leu)
|
rs1956873618
|
|
|
NM_001005242.3(PKP2):c.1138G>T (p.Glu380Ter)
|
rs878898365
|
|
|
NM_001005242.3(PKP2):c.1139A>C (p.Glu380Ala)
|
|
|
|
NM_001005242.3(PKP2):c.1140G>T (p.Glu380Asp)
|
|
|
|
NM_001005242.3(PKP2):c.1152A>G (p.Lys384=)
|
|
|
|
NM_001005242.3(PKP2):c.1163G>C (p.Arg388Pro)
|
rs756000218
|
|
|
NM_001005242.3(PKP2):c.1170+10A>C
|
|
|
|
NM_001005242.3(PKP2):c.1170+14T>A
|
|
|
|
NM_001005242.3(PKP2):c.1170+15C>A
|
rs1395923604
|
|
|
NM_001005242.3(PKP2):c.1170+17G>A
|
|
|
|
NM_001005242.3(PKP2):c.1170+18T>C
|
rs2137919020
|
|
|
NM_001005242.3(PKP2):c.1170+18T>G
|
|
|
|
NM_001005242.3(PKP2):c.1170+19C>G
|
|
|
|
NM_001005242.3(PKP2):c.1170+1G>A
|
rs786204392
|
|
|
NM_001005242.3(PKP2):c.1170+1G>C
|
|
|
|
NM_001005242.3(PKP2):c.1170+1G>T
|
|
|
|
NM_001005242.3(PKP2):c.1170+2T>A
|
rs397516987
|
|
|
NM_001005242.3(PKP2):c.1170+2T>C
|
rs397516987
|
|
|
NM_001005242.3(PKP2):c.1170+3G>A
|
rs1956872807
|
|
|
NM_001005242.3(PKP2):c.1170+3G>C
|
|
|
|
NM_001005242.3(PKP2):c.1170+4_1170+5del
|
rs2137919094
|
|
|
NM_001005242.3(PKP2):c.1170+4_1170+7del
|
rs397516988
|
|
|
NM_001005242.3(PKP2):c.1170+5G>A
|
rs794729105
|
|
|
NM_001005242.3(PKP2):c.1170+5G>T
|
rs794729105
|
|
|
NM_001005242.3(PKP2):c.1171-19G>A
|
rs376451546
|
|
|
NM_001005242.3(PKP2):c.1171-19G>T
|
rs376451546
|
|
|
NM_001005242.3(PKP2):c.1171-20T>C
|
|
|
|
NM_001005242.3(PKP2):c.1171-20T>G
|
rs1592750729
|
|
|
NM_001005242.3(PKP2):c.1171-5_1171-2dup
|
rs2137863489
|
|
|
NM_001005242.3(PKP2):c.1177C>A (p.Gln393Lys)
|
|
|
|
NM_001005242.3(PKP2):c.1177C>T (p.Gln393Ter)
|
rs786204393
|
|
|
NM_001005242.3(PKP2):c.1180C>T (p.Leu394Phe)
|
rs886049321
|
|
|
NM_001005242.3(PKP2):c.1184G>A (p.Arg395His)
|
rs773611613
|
|
|
NM_001005242.3(PKP2):c.1189A>G (p.Ile397Val)
|
rs1956691539
|
|
|
NM_001005242.3(PKP2):c.1189A>T (p.Ile397Phe)
|
|
|
|
NM_001005242.3(PKP2):c.118C>G (p.Leu40Val)
|
rs1039022167
|
|
|
NM_001005242.3(PKP2):c.1195A>C (p.Lys399Gln)
|
|
|
|
NM_001005242.3(PKP2):c.1204C>T (p.Gln402Ter)
|
|
|
|
NM_001005242.3(PKP2):c.1211dup (p.Val406fs)
|
rs397516989
|
|
|
NM_001005242.3(PKP2):c.1212A>C (p.Leu404=)
|
|
|
|
NM_001005242.3(PKP2):c.1212A>G (p.Leu404=)
|
rs1592750669
|
|
|
NM_001005242.3(PKP2):c.1217_1379-790inv
|
|
|
|
NM_001005242.3(PKP2):c.1219C>T (p.Gln407Ter)
|
rs1555145520
|
|
|
NM_001005242.3(PKP2):c.121del (p.Ala41fs)
|
|
|
|
NM_001005242.3(PKP2):c.1224T>C (p.Asn408=)
|
|
|
|
NM_001005242.3(PKP2):c.1231G>T (p.Val411Phe)
|
rs192041220
|
|
|
NM_001005242.3(PKP2):c.1233T>G (p.Val411=)
|
rs2137863106
|
|
|
NM_001005242.3(PKP2):c.1237C>G (p.Arg413Gly)
|
|
|
|
NM_001005242.3(PKP2):c.123G>A (p.Ala41=)
|
|
|
|
NM_001005242.3(PKP2):c.1244T>G (p.Val415Gly)
|
rs1335415987
|
|
|
NM_001005242.3(PKP2):c.1251G>T (p.Gly417=)
|
rs567854722
|
|
|
NM_001005242.3(PKP2):c.1252del (p.Ala418fs)
|
rs1555145509
|
|
|
NM_001005242.3(PKP2):c.1256T>C (p.Leu419Ser)
|
rs1265030036
|
|
|
NM_001005242.3(PKP2):c.125G>A (p.Gly42Glu)
|
|
|
|
NM_001005242.3(PKP2):c.1264_1265del (p.Leu422fs)
|
rs1956690062
|
|
|
NM_001005242.3(PKP2):c.126G>A (p.Gly42=)
|
rs2138010654
|
|
|
NM_001005242.3(PKP2):c.1271T>C (p.Phe424Ser)
|
rs397516990
|
|
|
NM_001005242.3(PKP2):c.1278C>T (p.Asp426=)
|
|
|
|
NM_001005242.3(PKP2):c.1286A>G (p.Asn429Ser)
|
rs2137862708
|
|
|
NM_001005242.3(PKP2):c.1294G>C (p.Glu432Gln)
|
rs1956689490
|
|
|
NM_001005242.3(PKP2):c.1295_1323dup (p.Leu442delinsArgTrpLeuAsnTer)
|
|
|
|
NM_001005242.3(PKP2):c.1297G>A (p.Val433Met)
|
|
|
|
NM_001005242.3(PKP2):c.12C>A (p.Pro4=)
|
|
|
|
NM_001005242.3(PKP2):c.1301dup (p.Ala434_Glu435insTer)
|
rs876657659
|
|
|
NM_001005242.3(PKP2):c.1307_1315delinsATTTAGTT (p.Leu436fs)
|
rs397516992
|
|
|
NM_001005242.3(PKP2):c.130_131delinsCC (p.Ser44Pro)
|
|
|
|
NM_001005242.3(PKP2):c.1314G>T (p.Gly438=)
|
rs2137862483
|
|
|
NM_001005242.3(PKP2):c.131G>A (p.Ser44Asn)
|
|
|
|
NM_001005242.3(PKP2):c.1332G>C (p.Gln444His)
|
|
|
|
NM_001005242.3(PKP2):c.1338G>A (p.Leu446=)
|
|
|
|
NM_001005242.3(PKP2):c.1345A>G (p.Thr449Ala)
|
rs2137862264
|
|
|
NM_001005242.3(PKP2):c.1353C>T (p.Asp451=)
|
rs879074880
|
|
|
NM_001005242.3(PKP2):c.1359G>A (p.Glu453=)
|
rs1158553343
|
|
|
NM_001005242.3(PKP2):c.1361C>T (p.Thr454Ile)
|
rs2137862174
|
|
|
NM_001005242.3(PKP2):c.1366A>C (p.Lys456Gln)
|
rs1555145493
|
|
|
NM_001005242.3(PKP2):c.1367A>G (p.Lys456Arg)
|
rs750897570
|
|
|
NM_001005242.3(PKP2):c.1368del (p.Lys456fs)
|
rs1393661338
|
|
|
NM_001005242.3(PKP2):c.1368dup (p.Gln457fs)
|
rs1393661338
|
|
|
NM_001005242.3(PKP2):c.1369C>A (p.Gln457Lys)
|
rs1956688410
|
|
|
NM_001005242.3(PKP2):c.1369_1372del (p.Lys456_Gln457insTer)
|
rs397516993
|
|
|
NM_001005242.3(PKP2):c.1373T>A (p.Ile458Lys)
|
rs1036553117
|
|
|
NM_001005242.3(PKP2):c.1377A>G (p.Thr459=)
|
rs1565590176
|
|
|
NM_001005242.3(PKP2):c.1378+17A>G
|
|
|
|
NM_001005242.3(PKP2):c.1378+1G>A
|
rs397516994
|
|
|
NM_001005242.3(PKP2):c.1378+1G>C
|
rs397516994
|
|
|
NM_001005242.3(PKP2):c.1378+2T>A
|
rs762103704
|
|
|
NM_001005242.3(PKP2):c.1378+5T>C
|
rs767415624
|
|
|
NM_001005242.3(PKP2):c.1379-1966del
|
rs1555144717
|
|
|
NM_001005242.3(PKP2):c.1379-1967C>T
|
|
|
|
NM_001005242.3(PKP2):c.1379-1976G>A
|
rs1332615728
|
|
|
NM_001005242.3(PKP2):c.1379-1980C>G
|
|
|
|
NM_001005242.3(PKP2):c.1379-1984C>G
|
rs759017992
|
|
|
NM_001005242.3(PKP2):c.1379-1984C>T
|
rs759017992
|
|
|
NM_001005242.3(PKP2):c.1379-1986G>T
|
rs1956614139
|
|
|
NM_001005242.3(PKP2):c.1379-1989C>T
|
|
|
|
NM_001005242.3(PKP2):c.1379-1990G>A
|
rs747472526
|
|
|
NM_001005242.3(PKP2):c.1379-1990G>T
|
|
|
|
NM_001005242.3(PKP2):c.1379-1992C>T
|
rs2137837678
|
|
|
NM_001005242.3(PKP2):c.1379-1994A>G
|
|
|
|
NM_001005242.3(PKP2):c.1379-1998C>A
|
rs151212477
|
|
|
NM_001005242.3(PKP2):c.1379-2002A>G
|
rs1283785731
|
|
|
NM_001005242.3(PKP2):c.1379-2004G>A
|
|
|
|
NM_001005242.3(PKP2):c.1379-2010A>G
|
rs1382350974
|
|
|
NM_001005242.3(PKP2):c.1379-2010A>T
|
|
|
|
NM_001005242.3(PKP2):c.1379-2011G>C
|
rs140301552
|
|
|
NM_001005242.3(PKP2):c.1379-2021G>T
|
rs2137837919
|
|
|
NM_001005242.3(PKP2):c.1379-2027A>G
|
rs778247181
|
|
|
NM_001005242.3(PKP2):c.1379-2039C>T
|
rs1257306156
|
|
|
NM_001005242.3(PKP2):c.1379-2040A>G
|
|
|
|
NM_001005242.3(PKP2):c.1379-2043A>G
|
rs1188858368
|
|
|
NM_001005242.3(PKP2):c.1379-2045C>T
|
rs557373206
|
|
|
NM_001005242.3(PKP2):c.1379-2045_1379-1738del
|
rs2137836547
|
|
|
NM_001005242.3(PKP2):c.1379-2047_1379-2043del
|
rs775995156
|
|
|
NM_001005242.3(PKP2):c.1379-2056C>G
|
|
|
|
NM_001005242.3(PKP2):c.1379-2058C>T
|
|
|
|
NM_001005242.3(PKP2):c.1379-2060C>G
|
rs1565587911
|
|
|
NM_001005242.3(PKP2):c.1379-2062G>A
|
|
|
|
NM_001005242.3(PKP2):c.1379-2068C>A
|
|
|
|
NM_001005242.3(PKP2):c.1379-2075_1379-2074dup
|
|
|
|
NM_001005242.3(PKP2):c.1379-2080T>C
|
rs2137838317
|
|
|
NM_001005242.3(PKP2):c.1379-2081A>G
|
rs2137838328
|
|
|
NM_001005242.3(PKP2):c.1379-2083G>A
|
rs1592747658
|
|
|
NM_001005242.3(PKP2):c.1379-2088A>G
|
rs2137838364
|
|
|
NM_001005242.3(PKP2):c.1379-2091A>T
|
|
|
|
NM_001005242.3(PKP2):c.1379-2101A>G
|
rs1424035271
|
|
|
NM_001005242.3(PKP2):c.1379-2105A>G
|
rs376606525
|
|
|
NM_001005242.3(PKP2):c.1379-2107C>T
|
|
|
|
NM_001005242.3(PKP2):c.1379-2114G>A
|
rs2137838518
|
|
|
NM_001005242.3(PKP2):c.1379-2117T>A
|
rs1956617482
|
|
|
NM_001005242.3(PKP2):c.1379G>A (p.Gly460Asp)
|
rs755399089
|
|
|
NM_001005242.3(PKP2):c.1382del (p.Leu461fs)
|
|
|
|
NM_001005242.3(PKP2):c.1383G>A (p.Leu461=)
|
rs2137831117
|
|
|
NM_001005242.3(PKP2):c.1385T>C (p.Leu462Pro)
|
|
|
|
NM_001005242.3(PKP2):c.1388G>A (p.Trp463Ter)
|
rs2137831087
|
|
|
NM_001005242.3(PKP2):c.1389G>A (p.Trp463Ter)
|
|
|
|
NM_001005242.3(PKP2):c.1390A>C (p.Asn464His)
|
|
|
|
NM_001005242.3(PKP2):c.1391_1406del (p.Asn464fs)
|
rs2137830958
|
|
|
NM_001005242.3(PKP2):c.1398A>C (p.Ser466=)
|
rs1163940991
|
|
|
NM_001005242.3(PKP2):c.1399_1408del (p.Ser467fs)
|
rs794729125
|
|
|
NM_001005242.3(PKP2):c.139GGC[3] (p.Gly48dup)
|
rs944330366
|
|
|
NM_001005242.3(PKP2):c.1400C>T (p.Ser467Phe)
|
rs1287872807
|
|
|
NM_001005242.3(PKP2):c.1409A>G (p.Lys470Arg)
|
|
|
|
NM_001005242.3(PKP2):c.1410del (p.Lys470fs)
|
rs1565586958
|
|
|
NM_001005242.3(PKP2):c.1411C>G (p.Leu471Val)
|
rs878854708
|
|
|
NM_001005242.3(PKP2):c.1415A>G (p.Lys472Arg)
|
rs749926313
|
|
|
NM_001005242.3(PKP2):c.1423A>C (p.Met475Leu)
|
|
|
|
NM_001005242.3(PKP2):c.1427T>A (p.Ile476Lys)
|
rs762789806
|
|
|
NM_001005242.3(PKP2):c.1432G>A (p.Glu478Lys)
|
rs1956588010
|
|
|
NM_001005242.3(PKP2):c.1434dup (p.Ala479fs)
|
rs1565586921
|
|
|
NM_001005242.3(PKP2):c.1435G>T (p.Ala479Ser)
|
rs766622938
|
|
|
NM_001005242.3(PKP2):c.1439del (p.Leu480fs)
|
|
|
|
NM_001005242.3(PKP2):c.1442T>G (p.Leu481Arg)
|
rs397516998
|
|
|
NM_001005242.3(PKP2):c.1443T>C (p.Leu481=)
|
|
|
|
NM_001005242.3(PKP2):c.1447del (p.Thr482_Leu483insTer)
|
rs794729126
|
|
|
NM_001005242.3(PKP2):c.1448T>G (p.Leu483Arg)
|
rs397517000
|
|
|
NM_001005242.3(PKP2):c.144_165del (p.Gln49fs)
|
rs930283260
|
|
|
NM_001005242.3(PKP2):c.1465A>G (p.Ile489Val)
|
rs1956587369
|
|
|
NM_001005242.3(PKP2):c.1478G>T (p.Gly493Val)
|
|
|
|
NM_001005242.3(PKP2):c.1482G>A (p.Trp494Ter)
|
rs397517001
|
|
|
NM_001005242.3(PKP2):c.1485T>C (p.Pro495=)
|
rs879043258
|
|
|
NM_001005242.3(PKP2):c.1489G>A (p.Gly497Arg)
|
rs2137830279
|
|
|
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs)
|
rs397516997
|
|
|
NM_001005242.3(PKP2):c.148_151dup (p.Val51fs)
|
|
|
|
NM_001005242.3(PKP2):c.1491del (p.Asp498fs)
|
|
|
|
NM_001005242.3(PKP2):c.1493_1498del (p.Asp498_Pro500delinsAla)
|
|
|
|
NM_001005242.3(PKP2):c.1497C>T (p.Tyr499=)
|
rs765139046
|
|
|
NM_001005242.3(PKP2):c.1498_1499insTT (p.Pro500fs)
|
rs1318070848
|
|
|
NM_001005242.3(PKP2):c.14del (p.Gly5fs)
|
rs397516996
|
|
|
NM_001005242.3(PKP2):c.1506A>T (p.Ala502=)
|
rs2137830158
|
|
|
NM_001005242.3(PKP2):c.1511G>T (p.Gly504Val)
|
rs1592746320
|
|
|
NM_001005242.3(PKP2):c.1511del (p.Gly504fs)
|
rs794729137
|
|
|
NM_001005242.3(PKP2):c.1520A>G (p.Asp507Gly)
|
rs1555144465
|
|
|
NM_001005242.3(PKP2):c.152_153del (p.Val51fs)
|
rs1957127435
|
|
|
NM_001005242.3(PKP2):c.1532del (p.Phe511fs)
|
rs794729127
|
|
|
NM_001005242.3(PKP2):c.1538A>G (p.Asn513Ser)
|
rs2137829917
|
|
|
NM_001005242.3(PKP2):c.1542_1549del (p.Thr515fs)
|
rs1064796069
|
|
|
NM_001005242.3(PKP2):c.1544C>T (p.Thr515Ile)
|
|
|
|
NM_001005242.3(PKP2):c.1554A>C (p.Leu518=)
|
|
|
|
NM_001005242.3(PKP2):c.1556+10C>T
|
rs1057521860
|
|
|
NM_001005242.3(PKP2):c.1556+11C>G
|
rs754845481
|
|
|
NM_001005242.3(PKP2):c.1556+15A>T
|
|
|
|
NM_001005242.3(PKP2):c.1556+1G>A
|
rs397517003
|
|
|
NM_001005242.3(PKP2):c.1556+9A>G
|
rs397517004
|
|
|
NM_001005242.3(PKP2):c.1557-10T>G
|
|
|
|
NM_001005242.3(PKP2):c.1557-14_1557-8del
|
rs1220372775
|
|
|
NM_001005242.3(PKP2):c.1557-15dup
|
|
|
|
NM_001005242.3(PKP2):c.1557-2A>G
|
rs1555143143
|
|
|
NM_001005242.3(PKP2):c.1557-5G>A
|
rs1956411165
|
|
|
NM_001005242.3(PKP2):c.1557-8dup
|
rs200009796
|
|
|
NM_001005242.3(PKP2):c.155dup (p.Ser53fs)
|
rs958681660
|
|
|
NM_001005242.3(PKP2):c.1565G>T (p.Ser522Ile)
|
rs1478657141
|
|
|
NM_001005242.3(PKP2):c.1569T>C (p.Ser523=)
|
rs1592738689
|
|
|
NM_001005242.3(PKP2):c.156G>C (p.Lys52Asn)
|
rs201210997
|
|
|
NM_001005242.3(PKP2):c.1573G>A (p.Gly525Ser)
|
rs1956410714
|
|
|
NM_001005242.3(PKP2):c.1577del (p.Ala526fs)
|
rs397517005
|
|
|
NM_001005242.3(PKP2):c.1584del (p.Arg529fs)
|
rs1592738654
|
|
|
NM_001005242.3(PKP2):c.1586G>A (p.Arg529Lys)
|
rs1555143136
|
|
|
NM_001005242.3(PKP2):c.1592C>T (p.Ala531Val)
|
|
|
|
NM_001005242.3(PKP2):c.1593G>A (p.Ala531=)
|
rs760093803
|
|
|
NM_001005242.3(PKP2):c.1593G>C (p.Ala531=)
|
rs760093803
|
|
|
NM_001005242.3(PKP2):c.1593G>T (p.Ala531=)
|
rs760093803
|
|
|
NM_001005242.3(PKP2):c.1593_1596dup (p.Arg533fs)
|
rs1555143134
|
|
|
NM_001005242.3(PKP2):c.1594A>T (p.Met532Leu)
|
rs1298544159
|
|
|
NM_001005242.3(PKP2):c.1597AGA[1] (p.Arg534del)
|
rs1956409943
|
|
|
NM_001005242.3(PKP2):c.159C>A (p.Ser53Arg)
|
rs770694213
|
|
|
NM_001005242.3(PKP2):c.15C>G (p.Gly5=)
|
rs1390632513
|
|
|
NM_001005242.3(PKP2):c.15C>T (p.Gly5=)
|
rs1390632513
|
|
|
NM_001005242.3(PKP2):c.1600A>C (p.Arg534=)
|
rs541792948
|
|
|
NM_001005242.3(PKP2):c.1602A>T (p.Arg534Ser)
|
rs1956409909
|
|
|
NM_001005242.3(PKP2):c.1609G>A (p.Gly537Arg)
|
|
|
|
NM_001005242.3(PKP2):c.1612C>T (p.Leu538Phe)
|
rs794729134
|
|
|
NM_001005242.3(PKP2):c.1613T>C (p.Leu538Pro)
|
rs1565581687
|
|
|
NM_001005242.3(PKP2):c.1616T>C (p.Ile539Thr)
|
rs1956409566
|
|
|
NM_001005242.3(PKP2):c.1616_1623dup (p.Val543fs)
|
rs2137783366
|
|
|
NM_001005242.3(PKP2):c.1625del (p.Leu542fs)
|
rs1060501182
|
|
|
NM_001005242.3(PKP2):c.1627del (p.Val543fs)
|
rs397517008
|
|
|
NM_001005242.3(PKP2):c.1628del (p.Val543fs)
|
rs397517009
|
|
|
NM_001005242.3(PKP2):c.1631A>G (p.His544Arg)
|
rs1956409116
|
|
|
NM_001005242.3(PKP2):c.1636G>A (p.Val546Ile)
|
rs1475361697
|
|
|
NM_001005242.3(PKP2):c.1638C>T (p.Val546=)
|
rs2137783220
|
|
|
NM_001005242.3(PKP2):c.163C>T (p.Arg55Trp)
|
|
|
|
NM_001005242.3(PKP2):c.1644A>T (p.Gly548=)
|
rs1555143127
|
|
|
NM_001005242.3(PKP2):c.1649T>A (p.Ile550Asn)
|
rs1592738583
|
|
|
NM_001005242.3(PKP2):c.1649T>C (p.Ile550Thr)
|
|
|
|
NM_001005242.3(PKP2):c.1663C>A (p.Pro555Thr)
|
rs771808028
|
|
|
NM_001005242.3(PKP2):c.1667del (p.Asp556fs)
|
rs794729128
|
|
|
NM_001005242.3(PKP2):c.1673del (p.Lys558fs)
|
|
|
|
NM_001005242.3(PKP2):c.1674+12G>C
|
|
|
|
NM_001005242.3(PKP2):c.1674+18T>C
|
|
|
|
NM_001005242.3(PKP2):c.1675-10G>A
|
|
|
|
NM_001005242.3(PKP2):c.1675-11del
|
|
|
|
NM_001005242.3(PKP2):c.1675-19T>G
|
|
|
|
NM_001005242.3(PKP2):c.1675-2A>G
|
rs2137778300
|
|
|
NM_001005242.3(PKP2):c.1675-3C>T
|
rs1592737932
|
|
|
NM_001005242.3(PKP2):c.1675G>A (p.Ala559Thr)
|
rs2137778289
|
|
|
NM_001005242.3(PKP2):c.1680_1681delinsTT (p.Glu561Ter)
|
|
|
|
NM_001005242.3(PKP2):c.1689dup (p.Val564fs)
|
rs397517010
|
|
|
NM_001005242.3(PKP2):c.1690G>A (p.Val564Met)
|
rs1565581029
|
|
|
NM_001005242.3(PKP2):c.1707C>T (p.Asn569=)
|
|
|
|
NM_001005242.3(PKP2):c.1708C>A (p.Leu570Ile)
|
rs1956392355
|
|
|
NM_001005242.3(PKP2):c.1708del (p.Leu570fs)
|
rs1555142994
|
|
|
NM_001005242.3(PKP2):c.1709T>C (p.Leu570Pro)
|
|
|
|
NM_001005242.3(PKP2):c.1712C>T (p.Ser571Phe)
|
rs1060501186
|
|
|
NM_001005242.3(PKP2):c.1714T>C (p.Tyr572His)
|
|
|
|
NM_001005242.3(PKP2):c.1716C>G (p.Tyr572Ter)
|
|
|
|
NM_001005242.3(PKP2):c.1719G>A (p.Gln573=)
|
|
|
|
NM_001005242.3(PKP2):c.1726G>A (p.Ala576Thr)
|
|
|
|
NM_001005242.3(PKP2):c.1727C>A (p.Ala576Glu)
|
rs2137777851
|
|
|
NM_001005242.3(PKP2):c.1729G>A (p.Glu577Lys)
|
|
|
|
NM_001005242.3(PKP2):c.172G>T (p.Glu58Ter)
|
|
|
|
NM_001005242.3(PKP2):c.1732C>T (p.Leu578Phe)
|
|
|
|
NM_001005242.3(PKP2):c.1734C>G (p.Leu578=)
|
rs1460314882
|
|
|
NM_001005242.3(PKP2):c.1737A>G (p.Pro579=)
|
rs766498974
|
|
|
NM_001005242.3(PKP2):c.1737A>T (p.Pro579=)
|
|
|
|
NM_001005242.3(PKP2):c.1738G>T (p.Glu580Ter)
|
rs1956391770
|
|
|
NM_001005242.3(PKP2):c.173A>G (p.Glu58Gly)
|
|
|
|
NM_001005242.3(PKP2):c.173dup (p.Gln59fs)
|
|
|
|
NM_001005242.3(PKP2):c.1742_1743del (p.Lys581fs)
|
|
|
|
NM_001005242.3(PKP2):c.1744T>A (p.Tyr582Asn)
|
rs794729112
|
|
|
NM_001005242.3(PKP2):c.1748C>T (p.Ser583Phe)
|
rs769817013
|
|
|
NM_001005242.3(PKP2):c.174G>A (p.Glu58=)
|
rs146708884
|
|
|
NM_001005242.3(PKP2):c.1750C>T (p.Gln584Ter)
|
rs2137777670
|
|
|
NM_001005242.3(PKP2):c.1755del (p.Asn585fs)
|
rs2137777604
|
|
|
NM_001005242.3(PKP2):c.1756A>G (p.Ile586Val)
|
|
|
|
NM_001005242.3(PKP2):c.1757del (p.Ile586fs)
|
|
|
|
NM_001005242.3(PKP2):c.175C>G (p.Gln59Glu)
|
rs1957126844
|
|
|
NM_001005242.3(PKP2):c.175C>T (p.Gln59Ter)
|
rs1957126844
|
|
|
NM_001005242.3(PKP2):c.1769del (p.Asn590fs)
|
rs1064793231
|
|
|
NM_001005242.3(PKP2):c.1771C>T (p.Arg591Trp)
|
rs778928536
|
|
|
NM_001005242.3(PKP2):c.1771del (p.Arg591fs)
|
rs1555142984
|
|
|
NM_001005242.3(PKP2):c.1772G>T (p.Arg591Leu)
|
|
|
|
NM_001005242.3(PKP2):c.1782G>T (p.Gln594His)
|
|
|
|
NM_001005242.3(PKP2):c.1785_1803dup (p.Gly602Ter)
|
rs1555142971
|
|
|
NM_001005242.3(PKP2):c.1788CAA[2] (p.Asn598del)
|
rs750084387
|
|
|
NM_001005242.3(PKP2):c.1788_1789del (p.Asp596fs)
|
|
|
|
NM_001005242.3(PKP2):c.1794C>T (p.Asn598=)
|
rs727503370
|
|
|
NM_001005242.3(PKP2):c.1804G>A (p.Gly602Arg)
|
rs960192135
|
|
|
NM_001005242.3(PKP2):c.1809T>C (p.Cys603=)
|
rs767935208
|
|
|
NM_001005242.3(PKP2):c.180G>T (p.Val60=)
|
|
|
|
NM_001005242.3(PKP2):c.1820_1823dup (p.Ser608fs)
|
rs397517013
|
|
|
NM_001005242.3(PKP2):c.182A>G (p.Gln61Arg)
|
|
|
|
NM_001005242.3(PKP2):c.1831G>T (p.Val611Leu)
|
rs1003410304
|
|
|
NM_001005242.3(PKP2):c.1839+2T>A
|
|
|
|
NM_001005242.3(PKP2):c.1839+6T>C
|
rs985611212
|
|
|
NM_001005242.3(PKP2):c.1839+6T>G
|
|
|
|
NM_001005242.3(PKP2):c.1840-10G>A
|
rs768000598
|
|
|
NM_001005242.3(PKP2):c.1840-19T>C
|
|
|
|
NM_001005242.3(PKP2):c.1840-1G>C
|
rs2137774389
|
|
|
NM_001005242.3(PKP2):c.1840-6G>T
|
|
|
|
NM_001005242.3(PKP2):c.1842dup (p.Tyr615fs)
|
rs1956378850
|
|
|
NM_001005242.3(PKP2):c.1848G>A (p.Gln616=)
|
rs759353036
|
|
|
NM_001005242.3(PKP2):c.1851C>T (p.Asp617=)
|
rs752732048
|
|
|
NM_001005242.3(PKP2):c.1852G>A (p.Val618Met)
|
rs770909247
|
|
|
NM_001005242.3(PKP2):c.1854G>A (p.Val618=)
|
|
|
|
NM_001005242.3(PKP2):c.1856C>A (p.Pro619Gln)
|
|
|
|
NM_001005242.3(PKP2):c.1856C>T (p.Pro619Leu)
|
rs1056066633
|
|
|
NM_001005242.3(PKP2):c.1862C>G (p.Pro621Arg)
|
rs773061639
|
|
|
NM_001005242.3(PKP2):c.1866G>A (p.Glu622=)
|
rs1956377972
|
|
|
NM_001005242.3(PKP2):c.1867G>T (p.Glu623Ter)
|
rs397517015
|
|
|
NM_001005242.3(PKP2):c.1870A>G (p.Lys624Glu)
|
|
|
|
NM_001005242.3(PKP2):c.1872G>A (p.Lys624=)
|
rs1395644069
|
|
|
NM_001005242.3(PKP2):c.1876A>G (p.Asn626Asp)
|
rs2137773947
|
|
|
NM_001005242.3(PKP2):c.1878C>A (p.Asn626Lys)
|
rs769943903
|
|
|
NM_001005242.3(PKP2):c.1879C>T (p.Pro627Ser)
|
rs1956377569
|
|
|
NM_001005242.3(PKP2):c.187A>C (p.Thr63Pro)
|
rs886049324
|
|
|
NM_001005242.3(PKP2):c.1881C>T (p.Pro627=)
|
|
|
|
NM_001005242.3(PKP2):c.1881del (p.Lys628fs)
|
rs764817683
|
|
|
NM_001005242.3(PKP2):c.1882A>G (p.Lys628Glu)
|
|
|
|
NM_001005242.3(PKP2):c.1883_1887delinsG (p.Lys628fs)
|
|
|
|
NM_001005242.3(PKP2):c.1883del (p.Lys628fs)
|
|
|
|
NM_001005242.3(PKP2):c.1893G>A (p.Glu631=)
|
|
|
|
NM_001005242.3(PKP2):c.1893G>T (p.Glu631Asp)
|
rs879110663
|
|
|
NM_001005242.3(PKP2):c.1896G>A (p.Trp632Ter)
|
rs193922673
|
|
|
NM_001005242.3(PKP2):c.1901G>A (p.Trp634Ter)
|
|
|
|
NM_001005242.3(PKP2):c.1904del (p.His635fs)
|
rs2137773640
|
|
|
NM_001005242.3(PKP2):c.1908C>T (p.Ser636=)
|
rs138495471
|
|
|
NM_001005242.3(PKP2):c.190dup (p.Leu64fs)
|
rs762288961
|
|
|
NM_001005242.3(PKP2):c.1912G>T (p.Val638Phe)
|
rs2137773553
|
|
|
NM_001005242.3(PKP2):c.1925A>G (p.Tyr642Cys)
|
rs1291783957
|
|
|
NM_001005242.3(PKP2):c.1926T>A (p.Tyr642Ter)
|
rs1444213066
|
|
|
NM_001005242.3(PKP2):c.1941C>T (p.Ala647=)
|
|
|
|
NM_001005242.3(PKP2):c.1942A>G (p.Lys648Glu)
|
|
|
|
NM_001005242.3(PKP2):c.1949_1951delinsATCGCCAAAA (p.Val650fs)
|
rs1064792929
|
|
|
NM_001005242.3(PKP2):c.1961C>A (p.Thr654Lys)
|
rs1592737188
|
|
|
NM_001005242.3(PKP2):c.1963C>T (p.Gln655Ter)
|
|
|
|
NM_001005242.3(PKP2):c.1968del (p.Ala657fs)
|
rs1956374971
|
|
|
NM_001005242.3(PKP2):c.1981G>A (p.Ala661Thr)
|
rs1199864691
|
|
|
NM_001005242.3(PKP2):c.1986G>A (p.Leu662=)
|
rs2137772910
|
|
|
NM_001005242.3(PKP2):c.1987C>T (p.Gln663Ter)
|
rs397517017
|
|
|
NM_001005242.3(PKP2):c.198del (p.Lys67fs)
|
rs1555149952
|
|
|
NM_001005242.3(PKP2):c.1993C>T (p.Leu665Phe)
|
rs397517018
|
|
|
NM_001005242.3(PKP2):c.1997C>T (p.Thr666Met)
|
rs397517016
|
|
|
NM_001005242.3(PKP2):c.1998G>C (p.Thr666=)
|
rs371089832
|
|
|
NM_001005242.3(PKP2):c.1998G>T (p.Thr666=)
|
rs371089832
|
|
|
NM_001005242.3(PKP2):c.199A>C (p.Lys67Gln)
|
|
|
|
NM_001005242.3(PKP2):c.199A>G (p.Lys67Glu)
|
rs1555149950
|
|
|
NM_001005242.3(PKP2):c.1A>G (p.Met1Val)
|
rs794729107
|
|
|
NM_001005242.3(PKP2):c.1A>T (p.Met1Leu)
|
|
|
|
NM_001005242.3(PKP2):c.2003G>A (p.Gly668Glu)
|
rs1348373466
|
|
|
NM_001005242.3(PKP2):c.2003G>C (p.Gly668Ala)
|
rs1348373466
|
|
|
NM_001005242.3(PKP2):c.2006G>A (p.Ser669Asn)
|
|
|
|
NM_001005242.3(PKP2):c.2007T>C (p.Ser669=)
|
rs2137772710
|
|
|
NM_001005242.3(PKP2):c.2008G>A (p.Gly670Arg)
|
|
|
|
NM_001005242.3(PKP2):c.200A>G (p.Lys67Arg)
|
rs1957126196
|
|
|
NM_001005242.3(PKP2):c.2013+2T>C
|
|
|
|
NM_001005242.3(PKP2):c.2013+5G>A
|
|
|
|
NM_001005242.3(PKP2):c.2013+6T>A
|
rs1592737126
|
|
|
NM_001005242.3(PKP2):c.2013+8T>C
|
|
|
|
NM_001005242.3(PKP2):c.2013A>G (p.Pro671=)
|
rs1956373944
|
|
|
NM_001005242.3(PKP2):c.2014-16A>G
|
|
|
|
NM_001005242.3(PKP2):c.2014-1_2014del
|
|
|
|
NM_001005242.3(PKP2):c.2014-3C>T
|
rs2137725939
|
|
|
NM_001005242.3(PKP2):c.2014A>T (p.Met672Leu)
|
|
|
|
NM_001005242.3(PKP2):c.201G>A (p.Lys67=)
|
rs1957126171
|
|
|
NM_001005242.3(PKP2):c.2023_2024delinsCT (p.Ser675Leu)
|
rs1956192621
|
|
|
NM_001005242.3(PKP2):c.2028G>A (p.Val676=)
|
rs1397771521
|
|
|
NM_001005242.3(PKP2):c.2036C>T (p.Thr679Ile)
|
|
|
|
NM_001005242.3(PKP2):c.2037A>G (p.Thr679=)
|
rs377504106
|
|
|
NM_001005242.3(PKP2):c.2037A>T (p.Thr679=)
|
rs377504106
|
|
|
NM_001005242.3(PKP2):c.2042T>A (p.Val681Asp)
|
rs1227501219
|
|
|
NM_001005242.3(PKP2):c.2043C>T (p.Val681=)
|
rs1422427818
|
|
|
NM_001005242.3(PKP2):c.2044C>T (p.Gln682Ter)
|
rs1325285497
|
|
|
NM_001005242.3(PKP2):c.2047A>T (p.Lys683Ter)
|
rs1956192249
|
|
|
NM_001005242.3(PKP2):c.2048A>G (p.Lys683Arg)
|
rs1478626016
|
|
|
NM_001005242.3(PKP2):c.2055T>C (p.Ser685=)
|
|
|
|
NM_001005242.3(PKP2):c.2062C>T (p.Gln688Ter)
|
rs1956192035
|
|
|
NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs)
|
rs397517021
|
|
|
NM_001005242.3(PKP2):c.2066_2070del (p.His689fs)
|
rs397517021
|
|
|
NM_001005242.3(PKP2):c.2066_2071delinsG (p.His689fs)
|
rs878854710
|
|
|
NM_001005242.3(PKP2):c.206G>T (p.Arg69Leu)
|
rs1388260138
|
|
|
NM_001005242.3(PKP2):c.2071C>T (p.Arg691Ter)
|
rs121434421
|
|
|
NM_001005242.3(PKP2):c.2077A>G (p.Met693Val)
|
|
|
|
NM_001005242.3(PKP2):c.2083C>T (p.His695Tyr)
|
|
|
|
NM_001005242.3(PKP2):c.2086G>A (p.Val696Ile)
|
rs1956191269
|
|
|
NM_001005242.3(PKP2):c.2087T>A (p.Val696Asp)
|
|
|
|
NM_001005242.3(PKP2):c.2089G>C (p.Gly697Arg)
|
rs2137725489
|
|
|
NM_001005242.3(PKP2):c.208A>G (p.Ser70Gly)
|
|
|
|
NM_001005242.3(PKP2):c.2097_2099dup (p.Pro699_Ser700insArg)
|
rs1324822103
|
|
|
NM_001005242.3(PKP2):c.2098A>G (p.Ser700Gly)
|
|
|
|
NM_001005242.3(PKP2):c.2101G>T (p.Val701Leu)
|
rs757159896
|
|
|
NM_001005242.3(PKP2):c.2113_2114delinsAT (p.Ala705Ile)
|
rs1565574704
|
|
|
NM_001005242.3(PKP2):c.2119T>C (p.Ser707Pro)
|
rs1592729555
|
|
|
NM_001005242.3(PKP2):c.2125C>T (p.Leu709=)
|
rs2137725297
|
|
|
NM_001005242.3(PKP2):c.2126T>A (p.Leu709Gln)
|
|
|
|
NM_001005242.3(PKP2):c.212C>G (p.Ser71Cys)
|
|
|
|
NM_001005242.3(PKP2):c.2130G>A (p.Arg710=)
|
rs2137725263
|
|
|
NM_001005242.3(PKP2):c.2138C>A (p.Ser713Tyr)
|
rs1956190526
|
|
|
NM_001005242.3(PKP2):c.213C>G (p.Ser71=)
|
rs1173618581
|
|
|
NM_001005242.3(PKP2):c.2148_2149del (p.Leu718fs)
|
rs1592729525
|
|
|
NM_001005242.3(PKP2):c.214G>T (p.Val72Leu)
|
rs397517019
|
|
|
NM_001005242.3(PKP2):c.2151T>G (p.Ser717=)
|
|
|
|
NM_001005242.3(PKP2):c.2152C>T (p.Leu718=)
|
rs1592729512
|
|
|
NM_001005242.3(PKP2):c.2153T>G (p.Leu718Arg)
|
|
|
|
NM_001005242.3(PKP2):c.2154G>C (p.Leu718=)
|
|
|
|
NM_001005242.3(PKP2):c.2156del (p.Gln719fs)
|
|
|
|
NM_001005242.3(PKP2):c.2161_2167+1008del
|
|
|
|
NM_001005242.3(PKP2):c.2166T>C (p.Ile722=)
|
|
|
|
NM_001005242.3(PKP2):c.2166T>G (p.Ile722Met)
|
rs1442934924
|
|
|
NM_001005242.3(PKP2):c.2167+11A>G
|
rs551378645
|
|
|
NM_001005242.3(PKP2):c.2167+1G>A
|
rs794729116
|
|
|
NM_001005242.3(PKP2):c.2167+3G>T
|
rs2137725110
|
|
|
NM_001005242.3(PKP2):c.2168-10C>T
|
rs1410924735
|
|
|
NM_001005242.3(PKP2):c.2168-11del
|
rs746936605
|
|
|
NM_001005242.3(PKP2):c.2168-11dup
|
rs746936605
|
|
|
NM_001005242.3(PKP2):c.2168-16T>C
|
|
|
|
NM_001005242.3(PKP2):c.2168-16T>G
|
rs746498808
|
|
|
NM_001005242.3(PKP2):c.2168-19T>G
|
rs527736735
|
|
|
NM_001005242.3(PKP2):c.2168-1G>A
|
rs1060501184
|
|
|
NM_001005242.3(PKP2):c.2168-21_2168-19del
|
rs747997926
|
|
|
NM_001005242.3(PKP2):c.2168-21_2168-20del
|
rs200266270
|
|
|
NM_001005242.3(PKP2):c.2168-4G>C
|
rs376231586
|
|
|
NM_001005242.3(PKP2):c.2168-4G>T
|
rs376231586
|
|
|
NM_001005242.3(PKP2):c.2171A>G (p.Lys724Arg)
|
|
|
|
NM_001005242.3(PKP2):c.2175A>T (p.Glu725Asp)
|
|
|
|
NM_001005242.3(PKP2):c.2177C>T (p.Thr726Ile)
|
rs2137708917
|
|
|
NM_001005242.3(PKP2):c.2180_2181del (p.Leu727fs)
|
rs1064794350
|
|
|
NM_001005242.3(PKP2):c.2181C>T (p.Leu727=)
|
rs1032835001
|
|
|
NM_001005242.3(PKP2):c.2186A>C (p.Asp729Ala)
|
rs1956123004
|
|
|
NM_001005242.3(PKP2):c.218G>C (p.Gly73Ala)
|
|
|
|
NM_001005242.3(PKP2):c.218dup (p.Asn74fs)
|
rs1257456477
|
|
|
NM_001005242.3(PKP2):c.2190G>A (p.Leu730=)
|
rs886049320
|
|
|
NM_001005242.3(PKP2):c.2193_2198del (p.Ser732_Ile733del)
|
|
|
|
NM_001005242.3(PKP2):c.2195C>T (p.Ser732Phe)
|
|
|
|
NM_001005242.3(PKP2):c.2197A>G (p.Ile733Val)
|
rs749907181
|
|
|
NM_001005242.3(PKP2):c.2202_2206delinsCAGT (p.Pro735fs)
|
rs397517022
|
|
|
NM_001005242.3(PKP2):c.2203C>G (p.Pro735Ala)
|
|
|
|
NM_001005242.3(PKP2):c.2221A>G (p.Thr741Ala)
|
|
|
|
NM_001005242.3(PKP2):c.2222C>T (p.Thr741Ile)
|
|
|
|
NM_001005242.3(PKP2):c.2228T>G (p.Leu743Arg)
|
rs145553222
|
|
|
NM_001005242.3(PKP2):c.2229T>G (p.Leu743=)
|
|
|
|
NM_001005242.3(PKP2):c.223+12C>T
|
|
|
|
NM_001005242.3(PKP2):c.223+13C>A
|
|
|
|
NM_001005242.3(PKP2):c.223+13C>T
|
|
|
|
NM_001005242.3(PKP2):c.223+18C>T
|
|
|
|
NM_001005242.3(PKP2):c.223+6T>G
|
rs755600420
|
|
|
NM_001005242.3(PKP2):c.2234T>A (p.Ile745Asn)
|
rs543233804
|
|
|
NM_001005242.3(PKP2):c.2235T>A (p.Ile745=)
|
|
|
|
NM_001005242.3(PKP2):c.2236G>A (p.Glu746Lys)
|
rs2137708520
|
|
|
NM_001005242.3(PKP2):c.224-10T>C
|
rs1956962712
|
|
|
NM_001005242.3(PKP2):c.224-14T>C
|
|
|
|
NM_001005242.3(PKP2):c.224-1639_274del
|
|
|
|
NM_001005242.3(PKP2):c.224-18A>G
|
rs370733920
|
|
|
NM_001005242.3(PKP2):c.224-18A>T
|
rs370733920
|
|
|
NM_001005242.3(PKP2):c.224-1G>A
|
|
|
|
NM_001005242.3(PKP2):c.224-3C>A
|
|
|
|
NM_001005242.3(PKP2):c.224-3C>G
|
rs786204387
|
|
|
NM_001005242.3(PKP2):c.2251G>A (p.Ala751Thr)
|
|
|
|
NM_001005242.3(PKP2):c.2251G>C (p.Ala751Pro)
|
|
|
|
NM_001005242.3(PKP2):c.2251G>T (p.Ala751Ser)
|
|
|
|
NM_001005242.3(PKP2):c.2254T>C (p.Cys752Arg)
|
rs794729098
|
|
|
NM_001005242.3(PKP2):c.2261_2269del (p.Thr754_Asn756del)
|
rs1270283587
|
|
|
NM_001005242.3(PKP2):c.2262A>G (p.Thr754=)
|
rs2137708394
|
|
|
NM_001005242.3(PKP2):c.2265G>A (p.Leu755=)
|
rs267603441
|
|
|
NM_001005242.3(PKP2):c.2271C>T (p.Asn757=)
|
|
|
|
NM_001005242.3(PKP2):c.2272A>G (p.Ile758Val)
|
rs1956121104
|
|
|
NM_001005242.3(PKP2):c.2273T>C (p.Ile758Thr)
|
|
|
|
NM_001005242.3(PKP2):c.2276del (p.Ile759fs)
|
rs1956120988
|
|
|
NM_001005242.3(PKP2):c.2277C>G (p.Ile759Met)
|
rs1956120923
|
|
|
NM_001005242.3(PKP2):c.2282del (p.Asn761fs)
|
rs1956120794
|
|
|
NM_001005242.3(PKP2):c.2284A>T (p.Ser762Cys)
|
|
|
|
NM_001005242.3(PKP2):c.2288A>T (p.Tyr763Phe)
|
rs2137708194
|
|
|
NM_001005242.3(PKP2):c.2292G>C (p.Gln764His)
|
|
|
|
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser)
|
rs139734328
|
|
|
NM_001005242.3(PKP2):c.2299C>T (p.Arg767Cys)
|
rs139734328
|
|
|
NM_001005242.3(PKP2):c.2300G>C (p.Arg767Pro)
|
rs533884071
|
|
|
NM_001005242.3(PKP2):c.2307T>C (p.Leu769=)
|
|
|
|
NM_001005242.3(PKP2):c.230T>C (p.Leu77Pro)
|
rs754446972
|
|
|
NM_001005242.3(PKP2):c.2318G>A (p.Gly773Glu)
|
rs1956119815
|
|
|
NM_001005242.3(PKP2):c.2319G>A (p.Gly773=)
|
|
|
|
NM_001005242.3(PKP2):c.2320G>A (p.Gly774Ser)
|
rs1592726250
|
|
|
NM_001005242.3(PKP2):c.2321G>A (p.Gly774Asp)
|
rs1192534020
|
|
|
NM_001005242.3(PKP2):c.2321G>T (p.Gly774Val)
|
rs1192534020
|
|
|
NM_001005242.3(PKP2):c.2323A>T (p.Ile775Phe)
|
|
|
|
NM_001005242.3(PKP2):c.2326C>A (p.Gln776Lys)
|
|
|
|
NM_001005242.3(PKP2):c.2340C>T (p.Ala780=)
|
|
|
|
NM_001005242.3(PKP2):c.2346T>C (p.Ser782=)
|
rs2137707818
|
|
|
NM_001005242.3(PKP2):c.2346del (p.Ser782fs)
|
|
|
|
NM_001005242.3(PKP2):c.234C>T (p.His78=)
|
rs1591829350
|
|
|
NM_001005242.3(PKP2):c.2356G>A (p.Ala786Thr)
|
rs768463319
|
|
|
NM_001005242.3(PKP2):c.2357+12_2357+13insC
|
rs1555141019
|
|
|
NM_001005242.3(PKP2):c.2357+13G>A
|
|
|
|
NM_001005242.3(PKP2):c.2357+1G>T
|
rs111517471
|
|
|
NM_001005242.3(PKP2):c.2357+5G>A
|
rs1555141020
|
|
|
NM_001005242.3(PKP2):c.2357+6T>A
|
rs1956118785
|
|
|
NM_001005242.3(PKP2):c.2357+6T>G
|
|
|
|
NM_001005242.3(PKP2):c.2357C>T (p.Ala786Val)
|
|
|
|
NM_001005242.3(PKP2):c.2358-10T>C
|
|
|
|
NM_001005242.3(PKP2):c.2358-14C>A
|
|
|
|
NM_001005242.3(PKP2):c.2358-1_2358delinsTT
|
rs1956082403
|
|
|
NM_001005242.3(PKP2):c.2358-20G>T
|
|
|
|
NM_001005242.3(PKP2):c.2358-2A>G
|
rs1956082474
|
|
|
NM_001005242.3(PKP2):c.2358-3C>G
|
rs1565571096
|
|
|
NM_001005242.3(PKP2):c.2358-9T>C
|
rs1592724586
|
|
|
NM_001005242.3(PKP2):c.2358C>T (p.Ala786=)
|
rs1555140707
|
|
|
NM_001005242.3(PKP2):c.2359_2366del (p.Tyr787fs)
|
|
|
|
NM_001005242.3(PKP2):c.2361T>A (p.Tyr787Ter)
|
|
|
|
NM_001005242.3(PKP2):c.2362G>T (p.Ala788Ser)
|
rs1956082270
|
|
|
NM_001005242.3(PKP2):c.2368A>G (p.Asn790Asp)
|
|
|
|
NM_001005242.3(PKP2):c.2369A>G (p.Asn790Ser)
|
|
|
|
NM_001005242.3(PKP2):c.2370C>G (p.Asn790Lys)
|
rs775519219
|
|
|
NM_001005242.3(PKP2):c.2374G>A (p.Ala792Thr)
|
|
|
|
NM_001005242.3(PKP2):c.2375C>A (p.Ala792Glu)
|
rs759322948
|
|
|
NM_001005242.3(PKP2):c.2377del (p.Ser793fs)
|
rs727504432
|
|
|
NM_001005242.3(PKP2):c.2380A>G (p.Lys794Glu)
|
rs1247384437
|
|
|
NM_001005242.3(PKP2):c.2383G>A (p.Ala795Thr)
|
|
|
|
NM_001005242.3(PKP2):c.2384C>T (p.Ala795Val)
|
|
|
|
NM_001005242.3(PKP2):c.2387C>T (p.Ala796Val)
|
rs267603440
|
|
|
NM_001005242.3(PKP2):c.2388T>G (p.Ala796=)
|
rs1956081645
|
|
|
NM_001005242.3(PKP2):c.2398C>T (p.Leu800=)
|
rs2137698131
|
|
|
NM_001005242.3(PKP2):c.2399T>C (p.Leu800Pro)
|
rs794729100
|
|
|
NM_001005242.3(PKP2):c.2402A>T (p.Tyr801Phe)
|
rs1060501187
|
|
|
NM_001005242.3(PKP2):c.2404T>C (p.Ser802Pro)
|
rs1183143350
|
|
|
NM_001005242.3(PKP2):c.2404del (p.Ser802fs)
|
|
|
|
NM_001005242.3(PKP2):c.2405C>A (p.Ser802Tyr)
|
rs768808114
|
|
|
NM_001005242.3(PKP2):c.2408_2411del (p.Leu803fs)
|
rs2137698036
|
|
|
NM_001005242.3(PKP2):c.2415A>G (p.Ala805=)
|
|
|
|
NM_001005242.3(PKP2):c.2418C>T (p.His806=)
|
rs756749174
|
|
|
NM_001005242.3(PKP2):c.2419del (p.Thr807fs)
|
rs727504786
|
|
|
NM_001005242.3(PKP2):c.2422G>A (p.Glu808Lys)
|
rs727505312
|
|
|
NM_001005242.3(PKP2):c.2422del (p.Glu808fs)
|
rs1353074803
|
|
|
NM_001005242.3(PKP2):c.2427G>A (p.Leu809=)
|
|
|
|
NM_001005242.3(PKP2):c.2437_2445+41del
|
rs1064792928
|
|
|
NM_001005242.3(PKP2):c.2445+11G>A
|
|
|
|
NM_001005242.3(PKP2):c.2445+11G>T
|
rs1356336963
|
|
|
NM_001005242.3(PKP2):c.2445+16A>G
|
rs1956080169
|
|
|
NM_001005242.3(PKP2):c.2445+17G>A
|
|
|
|
NM_001005242.3(PKP2):c.2445+18G>A
|
|
|
|
NM_001005242.3(PKP2):c.2445+3A>G
|
rs1956080399
|
|
|
NM_001005242.3(PKP2):c.2445+8C>G
|
rs2137697843
|
|
|
NM_001005242.3(PKP2):c.2446-10dup
|
rs397517024
|
|
|
NM_001005242.3(PKP2):c.2446-11T>C
|
|
|
|
NM_001005242.3(PKP2):c.2446-17G>A
|
|
|
|
NM_001005242.3(PKP2):c.2446-3A>G
|
rs1956078300
|
|
|
NM_001005242.3(PKP2):c.2446-4A>G
|
|
|
|
NM_001005242.3(PKP2):c.2446-5del
|
|
|
|
NM_001005242.3(PKP2):c.2446-8T>G
|
rs794729101
|
|
|
NM_001005242.3(PKP2):c.2448T>C (p.Ala816=)
|
|
|
|
NM_001005242.3(PKP2):c.2455A>C (p.Lys819Gln)
|
rs1235732912
|
|
|
NM_001005242.3(PKP2):c.2460G>A (p.Lys820=)
|
|
|
|
NM_001005242.3(PKP2):c.2461A>G (p.Thr821Ala)
|
|
|
|
NM_001005242.3(PKP2):c.2462C>T (p.Thr821Ile)
|
|
|
|
NM_001005242.3(PKP2):c.2466_2469del (p.Asp822fs)
|
rs1956077836
|
|
|
NM_001005242.3(PKP2):c.2470G>A (p.Val824Ile)
|
|
|
|
NM_001005242.3(PKP2):c.2471T>G (p.Val824Gly)
|
|
|
|
NM_001005242.3(PKP2):c.2473A>G (p.Asn825Asp)
|
|
|
|
NM_001005242.3(PKP2):c.2474A>C (p.Asn825Thr)
|
|
|
|
NM_001005242.3(PKP2):c.2485G>A (p.Ala829Thr)
|
|
|
|
NM_001005242.3(PKP2):c.2489A>G (p.Lys830Arg)
|
rs1956077369
|
|
|
NM_001005242.3(PKP2):c.2499C>A (p.His833Gln)
|
rs202094467
|
|
|
NM_001005242.3(PKP2):c.2501C>T (p.Ser834Phe)
|
rs1216433436
|
|
|
NM_001005242.3(PKP2):c.2504T>G (p.Leu835Arg)
|
rs775572104
|
|
|
NM_001005242.3(PKP2):c.250C>T (p.Pro84Ser)
|
rs756468173
|
|
|
NM_001005242.3(PKP2):c.2511C>T (p.Asp837=)
|
|
|
|
NM_001005242.3(PKP2):c.252T>G (p.Pro84=)
|
rs1591829338
|
|
|
NM_001005242.3(PKP2):c.253G>A (p.Glu85Lys)
|
rs2137953226
|
|
|
NM_001005242.3(PKP2):c.253G>T (p.Glu85Ter)
|
rs2137953226
|
|
|
NM_001005242.3(PKP2):c.253_256del (p.Glu85fs)
|
rs786204388
|
|
|
NM_001005242.3(PKP2):c.256dup (p.Tyr86fs)
|
rs794729120
|
|
|
NM_001005242.3(PKP2):c.257A>G (p.Tyr86Cys)
|
|
|
|
NM_001005242.3(PKP2):c.258T>C (p.Tyr86=)
|
|
|
|
NM_001005242.3(PKP2):c.261C>T (p.Val87=)
|
|
|
|
NM_001005242.3(PKP2):c.265A>T (p.Asn89Tyr)
|
rs1335621190
|
|
|
NM_001005242.3(PKP2):c.269_272del (p.Leu90fs)
|
rs397517025
|
|
|
NM_001005242.3(PKP2):c.273C>T (p.His91=)
|
|
|
|
NM_001005242.3(PKP2):c.273_277del (p.His91_Leu92insTer)
|
rs1555148259
|
|
|
NM_001005242.3(PKP2):c.274T>C (p.Leu92=)
|
|
|
|
NM_001005242.3(PKP2):c.274T>G (p.Leu92Val)
|
rs773851296
|
|
|
NM_001005242.3(PKP2):c.275T>A (p.Leu92Ter)
|
rs763639737
|
|
|
NM_001005242.3(PKP2):c.275T>C (p.Leu92Ser)
|
|
|
|
NM_001005242.3(PKP2):c.278T>G (p.Val93Gly)
|
rs2137952929
|
|
|
NM_001005242.3(PKP2):c.28T>C (p.Tyr10His)
|
rs1237779872
|
|
|
NM_001005242.3(PKP2):c.296_300dup (p.Arg101fs)
|
rs2137952811
|
|
|
NM_001005242.3(PKP2):c.2T>C (p.Met1Thr)
|
rs1957129506
|
|
|
NM_001005242.3(PKP2):c.302G>T (p.Arg101Leu)
|
|
|
|
NM_001005242.3(PKP2):c.305C>T (p.Ser102Phe)
|
rs990377209
|
|
|
NM_001005242.3(PKP2):c.306C>T (p.Ser102=)
|
|
|
|
NM_001005242.3(PKP2):c.307C>G (p.Pro103Ala)
|
rs139215336
|
|
|
NM_001005242.3(PKP2):c.307C>T (p.Pro103Ser)
|
rs139215336
|
|
|
NM_001005242.3(PKP2):c.308_309del (p.Pro103fs)
|
|
|
|
NM_001005242.3(PKP2):c.309T>C (p.Pro103=)
|
rs2137952679
|
|
|
NM_001005242.3(PKP2):c.30C>T (p.Tyr10=)
|
|
|
|
NM_001005242.3(PKP2):c.313C>G (p.Pro105Ala)
|
rs375035084
|
|
|
NM_001005242.3(PKP2):c.31G>T (p.Gly11Cys)
|
rs1250140346
|
|
|
NM_001005242.3(PKP2):c.327C>T (p.Asp109=)
|
rs1285494956
|
|
|
NM_001005242.3(PKP2):c.329dup (p.Met110fs)
|
rs2137952495
|
|
|
NM_001005242.3(PKP2):c.32G>C (p.Gly11Ala)
|
rs1359957288
|
|
|
NM_001005242.3(PKP2):c.335dup (p.Ala113fs)
|
|
|
|
NM_001005242.3(PKP2):c.336+10C>G
|
rs2137952378
|
|
|
NM_001005242.3(PKP2):c.336+16A>C
|
|
|
|
NM_001005242.3(PKP2):c.336+17dup
|
rs2137952357
|
|
|
NM_001005242.3(PKP2):c.336+1G>T
|
rs2137952423
|
|
|
NM_001005242.3(PKP2):c.336+20A>G
|
|
|
|
NM_001005242.3(PKP2):c.336+7del
|
|
|
|
NM_001005242.3(PKP2):c.336+8del
|
rs1591829238
|
|
|
NM_001005242.3(PKP2):c.336G>A (p.Lys112=)
|
rs2137952432
|
|
|
NM_001005242.3(PKP2):c.337-19T>G
|
rs780342528
|
|
|
NM_001005242.3(PKP2):c.337-2A>T
|
rs786204389
|
|
|
NM_001005242.3(PKP2):c.337-4G>A
|
rs751175344
|
|
|
NM_001005242.3(PKP2):c.337-5T>G
|
rs2137951361
|
|
|
NM_001005242.3(PKP2):c.337-8_337-7del
|
|
|
|
NM_001005242.3(PKP2):c.337G>T (p.Ala113Ser)
|
|
|
|
NM_001005242.3(PKP2):c.343A>G (p.Thr115Ala)
|
|
|
|
NM_001005242.3(PKP2):c.348T>A (p.Thr116=)
|
|
|
|
NM_001005242.3(PKP2):c.357T>C (p.Tyr119=)
|
rs758097199
|
|
|
NM_001005242.3(PKP2):c.357T>G (p.Tyr119Ter)
|
|
|
|
NM_001005242.3(PKP2):c.359A>C (p.Glu120Ala)
|
|
|
|
NM_001005242.3(PKP2):c.365G>A (p.Arg122His)
|
rs201306582
|
|
|
NM_001005242.3(PKP2):c.365G>T (p.Arg122Leu)
|
rs201306582
|
|
|
NM_001005242.3(PKP2):c.368G>A (p.Trp123Ter)
|
rs760576804
|
|
|
NM_001005242.3(PKP2):c.369G>A (p.Trp123Ter)
|
rs774663443
|
|
|
NM_001005242.3(PKP2):c.36C>T (p.Tyr12=)
|
|
|
|
NM_001005242.3(PKP2):c.371del (p.Gly124fs)
|
|
|
|
NM_001005242.3(PKP2):c.379dup (p.Thr127fs)
|
rs2137950985
|
|
|
NM_001005242.3(PKP2):c.387G>T (p.Gln129His)
|
|
|
|
NM_001005242.3(PKP2):c.38T>A (p.Ile13Asn)
|
rs775889367
|
|
|
NM_001005242.3(PKP2):c.390C>T (p.Tyr130=)
|
rs763303290
|
|
|
NM_001005242.3(PKP2):c.397C>T (p.Gln133Ter)
|
rs794729132
|
|
|
NM_001005242.3(PKP2):c.402G>A (p.Lys134=)
|
|
|
|
NM_001005242.3(PKP2):c.406G>A (p.Val136Met)
|
rs567795321
|
|
|
NM_001005242.3(PKP2):c.406G>T (p.Val136Leu)
|
rs567795321
|
|
|
NM_001005242.3(PKP2):c.409del (p.Glu137fs)
|
|
|
|
NM_001005242.3(PKP2):c.411A>G (p.Glu137=)
|
rs1591829029
|
|
|
NM_001005242.3(PKP2):c.417G>A (p.Arg139=)
|
|
|
|
NM_001005242.3(PKP2):c.420C>T (p.Ser140=)
|
rs2389115
|
|
|
NM_001005242.3(PKP2):c.427C>T (p.His143Tyr)
|
|
|
|
NM_001005242.3(PKP2):c.428_430dup (p.His143dup)
|
rs2137950571
|
|
|
NM_001005242.3(PKP2):c.433C>G (p.Leu145Val)
|
|
|
|
NM_001005242.3(PKP2):c.433C>T (p.Leu145=)
|
|
|
|
NM_001005242.3(PKP2):c.433_434del (p.Leu145fs)
|
|
|
|
NM_001005242.3(PKP2):c.438G>A (p.Arg146=)
|
|
|
|
NM_001005242.3(PKP2):c.440G>C (p.Arg147Thr)
|
rs1956955311
|
|
|
NM_001005242.3(PKP2):c.447G>A (p.Glu149=)
|
|
|
|
NM_001005242.3(PKP2):c.453T>C (p.Ser151=)
|
|
|
|
NM_001005242.3(PKP2):c.45C>A (p.Thr15=)
|
rs759214983
|
|
|
NM_001005242.3(PKP2):c.460A>G (p.Ser154Gly)
|
rs1956955101
|
|
|
NM_001005242.3(PKP2):c.463A>G (p.Ser155Gly)
|
|
|
|
NM_001005242.3(PKP2):c.464dup (p.Ser155fs)
|
rs2137950376
|
|
|
NM_001005242.3(PKP2):c.466C>G (p.Pro156Ala)
|
rs794729102
|
|
|
NM_001005242.3(PKP2):c.469G>A (p.Glu157Lys)
|
rs1956954911
|
|
|
NM_001005242.3(PKP2):c.470A>T (p.Glu157Val)
|
rs886049323
|
|
|
NM_001005242.3(PKP2):c.472_473del (p.Arg158fs)
|
rs2137950267
|
|
|
NM_001005242.3(PKP2):c.482A>G (p.Tyr161Cys)
|
|
|
|
NM_001005242.3(PKP2):c.488A>G (p.His163Arg)
|
|
|
|
NM_001005242.3(PKP2):c.489C>T (p.His163=)
|
rs771398047
|
|
|
NM_001005242.3(PKP2):c.499C>T (p.Gln167Ter)
|
rs1565599473
|
|
|
NM_001005242.3(PKP2):c.502T>C (p.Tyr168His)
|
rs1956954455
|
|
|
NM_001005242.3(PKP2):c.510G>A (p.Gln170=)
|
rs1591828909
|
|
|
NM_001005242.3(PKP2):c.514A>C (p.Ser172Arg)
|
rs2137949935
|
|
|
NM_001005242.3(PKP2):c.517C>T (p.Gln173Ter)
|
rs794729103
|
|
|
NM_001005242.3(PKP2):c.523G>T (p.Gly175Trp)
|
rs2137949835
|
|
|
NM_001005242.3(PKP2):c.525G>T (p.Gly175=)
|
|
|
|
NM_001005242.3(PKP2):c.527A>G (p.His176Arg)
|
rs1380823797
|
|
|
NM_001005242.3(PKP2):c.528C>T (p.His176=)
|
|
|
|
NM_001005242.3(PKP2):c.536A>C (p.His179Pro)
|
rs1371222715
|
|
|
NM_001005242.3(PKP2):c.53G>A (p.Gly18Asp)
|
|
|
|
NM_001005242.3(PKP2):c.544del (p.Glu182fs)
|
|
|
|
NM_001005242.3(PKP2):c.549_551del (p.Ser183del)
|
rs1358236902
|
|
|
NM_001005242.3(PKP2):c.558C>A (p.Ala186=)
|
|
|
|
NM_001005242.3(PKP2):c.561C>G (p.Ala187=)
|
|
|
|
NM_001005242.3(PKP2):c.567A>G (p.Leu189=)
|
rs1555148149
|
|
|
NM_001005242.3(PKP2):c.56A>C (p.Gln19Pro)
|
|
|
|
NM_001005242.3(PKP2):c.582T>A (p.Tyr194Ter)
|
rs532048791
|
|
|
NM_001005242.3(PKP2):c.582T>G (p.Tyr194Ter)
|
rs532048791
|
|
|
NM_001005242.3(PKP2):c.584C>T (p.Ala195Val)
|
rs1041783952
|
|
|
NM_001005242.3(PKP2):c.586C>T (p.Arg196Cys)
|
rs748957791
|
|
|
NM_001005242.3(PKP2):c.592G>A (p.Glu198Lys)
|
rs1040585677
|
|
|
NM_001005242.3(PKP2):c.596T>A (p.Ile199Asn)
|
|
|
|
NM_001005242.3(PKP2):c.597C>T (p.Ile199=)
|
rs866985131
|
|
|
NM_001005242.3(PKP2):c.59A>G (p.Gln20Arg)
|
rs2138011134
|
|
|
NM_001005242.3(PKP2):c.604dup (p.Val202fs)
|
|
|
|
NM_001005242.3(PKP2):c.613G>A (p.Ala205Thr)
|
|
|
|
NM_001005242.3(PKP2):c.621C>A (p.Thr207=)
|
rs2137949092
|
|
|
NM_001005242.3(PKP2):c.623del (p.Thr208fs)
|
rs794729122
|
|
|
NM_001005242.3(PKP2):c.629G>A (p.Arg210Lys)
|
rs1555148132
|
|
|
NM_001005242.3(PKP2):c.635G>A (p.Arg212His)
|
rs1369618463
|
|
|
NM_001005242.3(PKP2):c.635G>T (p.Arg212Leu)
|
|
|
|
NM_001005242.3(PKP2):c.647C>G (p.Thr216Arg)
|
rs2137948919
|
|
|
NM_001005242.3(PKP2):c.654_655del (p.His218fs)
|
rs1591828796
|
|
|
NM_001005242.3(PKP2):c.654_679dup (p.Ser227fs)
|
|
|
|
NM_001005242.3(PKP2):c.655A>G (p.Arg219Gly)
|
rs1309098966
|
|
|
NM_001005242.3(PKP2):c.656G>A (p.Arg219Lys)
|
|
|
|
NM_001005242.3(PKP2):c.657A>G (p.Arg219=)
|
rs750880081
|
|
|
NM_001005242.3(PKP2):c.658C>T (p.Gln220Ter)
|
rs886041322
|
|
|
NM_001005242.3(PKP2):c.659A>G (p.Gln220Arg)
|
|
|
|
NM_001005242.3(PKP2):c.663C>T (p.Tyr221=)
|
rs767987619
|
|
|
NM_001005242.3(PKP2):c.669_671dup (p.Gly224dup)
|
rs2137948788
|
|
|
NM_001005242.3(PKP2):c.671G>A (p.Gly224Asp)
|
rs942876582
|
|
|
NM_001005242.3(PKP2):c.672C>T (p.Gly224=)
|
rs2137948758
|
|
|
NM_001005242.3(PKP2):c.67G>T (p.Gly23Ter)
|
|
|
|
NM_001005242.3(PKP2):c.681C>G (p.Ser227Arg)
|
rs762263587
|
|
|
NM_001005242.3(PKP2):c.68del (p.Gly23fs)
|
rs1555149975
|
|
|
NM_001005242.3(PKP2):c.69A>G (p.Gly23=)
|
rs1591836131
|
|
|
NM_001005242.3(PKP2):c.704_708dup (p.Asn237fs)
|
|
|
|
NM_001005242.3(PKP2):c.717C>T (p.Ala239=)
|
rs143777637
|
|
|
NM_001005242.3(PKP2):c.724A>G (p.Thr242Ala)
|
|
|
|
NM_001005242.3(PKP2):c.730C>G (p.Pro244Ala)
|
rs756376477
|
|
|
NM_001005242.3(PKP2):c.735G>A (p.Arg245=)
|
|
|
|
NM_001005242.3(PKP2):c.739G>C (p.Gly247Arg)
|
rs1035589373
|
|
|
NM_001005242.3(PKP2):c.73C>G (p.Leu25Val)
|
rs1555149974
|
|
|
NM_001005242.3(PKP2):c.746G>T (p.Ser249Ile)
|
rs1085307949
|
|
|
NM_001005242.3(PKP2):c.749G>A (p.Arg250His)
|
rs369332786
|
|
|
NM_001005242.3(PKP2):c.749G>T (p.Arg250Leu)
|
rs369332786
|
|
|
NM_001005242.3(PKP2):c.750C>T (p.Arg250=)
|
rs1327751203
|
|
|
NM_001005242.3(PKP2):c.752G>A (p.Ser251Asn)
|
|
|
|
NM_001005242.3(PKP2):c.755T>C (p.Met252Thr)
|
|
|
|
NM_001005242.3(PKP2):c.759_769del (p.Asn254fs)
|
rs2137948074
|
|
|
NM_001005242.3(PKP2):c.762C>T (p.Asn254=)
|
rs1034147527
|
|
|
NM_001005242.3(PKP2):c.764T>C (p.Leu255Pro)
|
|
|
|
NM_001005242.3(PKP2):c.766T>A (p.Leu256Met)
|
|
|
|
NM_001005242.3(PKP2):c.771G>A (p.Glu257=)
|
rs1060504159
|
|
|
NM_001005242.3(PKP2):c.772A>T (p.Lys258Ter)
|
rs727504430
|
|
|
NM_001005242.3(PKP2):c.775G>T (p.Glu259Ter)
|
rs1425855043
|
|
|
NM_001005242.3(PKP2):c.779A>G (p.Asn260Ser)
|
|
|
|
NM_001005242.3(PKP2):c.785T>C (p.Leu262Pro)
|
|
|
|
NM_001005242.3(PKP2):c.786G>T (p.Leu262=)
|
|
|
|
NM_001005242.3(PKP2):c.792A>C (p.Ala264=)
|
rs2137947897
|
|
|
NM_001005242.3(PKP2):c.806G>A (p.Gly269Glu)
|
rs1341619257
|
|
|
NM_001005242.3(PKP2):c.808C>T (p.Gln270Ter)
|
|
|
|
NM_001005242.3(PKP2):c.809A>G (p.Gln270Arg)
|
|
|
|
NM_001005242.3(PKP2):c.811G>A (p.Val271Ile)
|
rs876657953
|
|
|
NM_001005242.3(PKP2):c.822G>C (p.Leu274=)
|
|
|
|
NM_001005242.3(PKP2):c.827C>T (p.Pro276Leu)
|
|
|
|
NM_001005242.3(PKP2):c.828C>T (p.Pro276=)
|
rs2137947497
|
|
|
NM_001005242.3(PKP2):c.830T>G (p.Leu277Arg)
|
|
|
|
NM_001005242.3(PKP2):c.834G>C (p.Gln278His)
|
|
|
|
NM_001005242.3(PKP2):c.849C>T (p.Asn283=)
|
|
|
|
NM_001005242.3(PKP2):c.861del (p.Arg287fs)
|
rs2137947261
|
|
|
NM_001005242.3(PKP2):c.870G>A (p.Trp290Ter)
|
|
|
|
NM_001005242.3(PKP2):c.875A>C (p.Gln292Pro)
|
|
|
|
NM_001005242.3(PKP2):c.875A>G (p.Gln292Arg)
|
|
|
|
NM_001005242.3(PKP2):c.887A>C (p.His296Pro)
|
|
|
|
NM_001005242.3(PKP2):c.891C>G (p.Ser297Arg)
|
rs2137947060
|
|
|
NM_001005242.3(PKP2):c.893C>T (p.Thr298Ile)
|
rs753271708
|
|
|
NM_001005242.3(PKP2):c.896G>A (p.Arg299His)
|
rs755425370
|
|
|
NM_001005242.3(PKP2):c.899C>T (p.Thr300Met)
|
rs553098424
|
|
|
NM_001005242.3(PKP2):c.89T>A (p.Leu30Gln)
|
rs1957128191
|
|
|
NM_001005242.3(PKP2):c.905G>A (p.Arg302Lys)
|
|
|
|
NM_001005242.3(PKP2):c.912T>C (p.Ala304=)
|
rs1591828546
|
|
|
NM_001005242.3(PKP2):c.916C>A (p.Pro306Thr)
|
rs1209340253
|
|
|
NM_001005242.3(PKP2):c.916_931del (p.Pro306fs)
|
|
|
|
NM_001005242.3(PKP2):c.919A>G (p.Ser307Gly)
|
|
|
|
NM_001005242.3(PKP2):c.920G>T (p.Ser307Ile)
|
|
|
|
NM_001005242.3(PKP2):c.921dup (p.Val308fs)
|
|
|
|
NM_001005242.3(PKP2):c.923_1034+262del
|
|
|
|
NM_001005242.3(PKP2):c.924C>A (p.Val308=)
|
|
|
|
NM_001005242.3(PKP2):c.926_928dup (p.Ala309dup)
|
rs869025497
|
|
|
NM_001005242.3(PKP2):c.928G>C (p.Val310Leu)
|
|
|
|
NM_001005242.3(PKP2):c.928_938dup (p.Ser313fs)
|
rs2137946568
|
|
|
NM_001005242.3(PKP2):c.929_951dup (p.His318fs)
|
rs1064792927
|
|
|
NM_001005242.3(PKP2):c.92_93insCCGCCCCCGCCCCCGGGCCCGACTGCGCGTGCCCGGCCGGAGCCGCGCCCCCTCCTCAGGGAAGGCCGG (p.Ala31_Leu32insArgProArgProArgAlaArgLeuArgValProGlyArgSerArgAlaProSerSerGlyLysAlaGly)
|
|
|
|
NM_001005242.3(PKP2):c.934T>C (p.Ser312Pro)
|
rs756604557
|
|
|
NM_001005242.3(PKP2):c.938del (p.Ser313fs)
|
rs2137946556
|
|
|
NM_001005242.3(PKP2):c.940G>A (p.Gly314Arg)
|
rs551812289
|
|
|
NM_001005242.3(PKP2):c.942G>A (p.Gly314=)
|
rs1956947291
|
|
|
NM_001005242.3(PKP2):c.946A>C (p.Arg316=)
|
|
|
|
NM_001005242.3(PKP2):c.947G>A (p.Arg316Lys)
|
rs1956947177
|
|
|
NM_001005242.3(PKP2):c.94C>A (p.Leu32Met)
|
|
|
|
NM_001005242.3(PKP2):c.951_983delinsAC (p.His318fs)
|
rs397517030
|
|
|
NM_001005242.3(PKP2):c.951del (p.His318fs)
|
rs1555148048
|
|
|
NM_001005242.3(PKP2):c.954C>T (p.His318=)
|
|
|
|
NM_001005242.3(PKP2):c.958_979del (p.Thr320fs)
|
|
|
|
NM_001005242.3(PKP2):c.95T>G (p.Leu32Arg)
|
rs1011184194
|
|
|
NM_001005242.3(PKP2):c.962_965del (p.Val321fs)
|
rs2137946218
|
|
|
NM_001005242.3(PKP2):c.963C>G (p.Val321=)
|
|
|
|
NM_001005242.3(PKP2):c.963del (p.Gly322fs)
|
|
|
|
NM_001005242.3(PKP2):c.964G>A (p.Gly322Ser)
|
rs200069860
|
|
|
NM_001005242.3(PKP2):c.964G>C (p.Gly322Arg)
|
|
|
|
NM_001005242.3(PKP2):c.964G>T (p.Gly322Cys)
|
rs200069860
|
|
|
NM_001005242.3(PKP2):c.966_967del (p.Gln323fs)
|
rs2137946195
|
|
|
NM_001005242.3(PKP2):c.968A>G (p.Gln323Arg)
|
rs879096591
|
|
|
NM_001005242.3(PKP2):c.968_971delinsGCT (p.Gln323fs)
|
rs1555148035
|
|
|
NM_001005242.3(PKP2):c.968_971inv (p.Gln323_Ala324delinsArgLeu)
|
|
|
|
NM_001005242.3(PKP2):c.968_975dup (p.Ala326fs)
|
rs1555148032
|
|
|
NM_001005242.3(PKP2):c.971C>T (p.Ala324Val)
|
rs529523595
|
|
|
NM_001005242.3(PKP2):c.972G>C (p.Ala324=)
|
rs142636176
|
|
|
NM_001005242.3(PKP2):c.972G>T (p.Ala324=)
|
rs142636176
|
|
|
NM_001005242.3(PKP2):c.975C>A (p.Ala325=)
|
rs369921166
|
|
|
NM_001005242.3(PKP2):c.976G>T (p.Ala326Ser)
|
|
|
|
NM_001005242.3(PKP2):c.977C>A (p.Ala326Glu)
|
rs762949110
|
|
|
NM_001005242.3(PKP2):c.980G>A (p.Gly327Glu)
|
rs759660796
|
|
|
NM_001005242.3(PKP2):c.980G>T (p.Gly327Val)
|
rs759660796
|
|
|
NM_001005242.3(PKP2):c.983G>T (p.Gly328Val)
|
rs144651139
|
|
|
NM_001005242.3(PKP2):c.983dup (p.Ser329fs)
|
rs786205353
|
|
|
NM_001005242.3(PKP2):c.985A>G (p.Ser329Gly)
|
rs779173447
|
|
|
NM_001005242.3(PKP2):c.985A>T (p.Ser329Cys)
|
rs779173447
|
|
|
NM_001005242.3(PKP2):c.986_992del (p.Ser329fs)
|
rs1373300155
|
|
|
NM_001005242.3(PKP2):c.987del (p.Ser329fs)
|
rs1432861552
|
|
|
NM_001005242.3(PKP2):c.990G>A (p.Gly330=)
|
rs749862514
|
|
|
NM_001005242.3(PKP2):c.999C>T (p.Leu333=)
|
rs2137945654
|
|
|
NM_001005242.3(PKP2):c.9C>T (p.Ala3=)
|
|
|
|
NM_001008844.3(DSP):c.3582+1242dup
|
rs727503003
|
|
|
NM_001035.3(RYR2):c.*1023G>T
|
rs886046304
|
|
|
NM_001035.3(RYR2):c.*1065A>G
|
rs886046305
|
|
|
NM_001035.3(RYR2):c.*1070G>T
|
rs886046306
|
|
|
NM_001035.3(RYR2):c.*129C>G
|
rs16835891
|
|
|
NM_001035.3(RYR2):c.*167_*168dup
|
rs886046284
|
|
|
NM_001035.3(RYR2):c.*187C>A
|
rs886046285
|
|
|
NM_001035.3(RYR2):c.*1_*5dup (p.Ter4968=)
|
rs1252973606
|
|
|
NM_001035.3(RYR2):c.*206C>A
|
rs886046286
|
|
|
NM_001035.3(RYR2):c.*272C>A
|
rs886046287
|
|
|
NM_001035.3(RYR2):c.*354A>G
|
rs886046289
|
|
|
NM_001035.3(RYR2):c.*378C>A
|
rs886046290
|
|
|
NM_001035.3(RYR2):c.*379T>G
|
rs886046291
|
|
|
NM_001035.3(RYR2):c.*578del
|
rs113047070
|
|
|
NM_001035.3(RYR2):c.*578dup
|
rs113047070
|
|
|
NM_001035.3(RYR2):c.*642A>C
|
rs886046297
|
|
|
NM_001035.3(RYR2):c.*646del
|
rs377407067
|
|
|
NM_001035.3(RYR2):c.*646dup
|
rs377407067
|
|
|
NM_001035.3(RYR2):c.*711C>G
|
rs544493822
|
|
|
NM_001035.3(RYR2):c.*712C>G
|
rs886046300
|
|
|
NM_001035.3(RYR2):c.*713C>G
|
rs886046301
|
|
|
NM_001035.3(RYR2):c.*714C>G
|
rs12406863
|
|
|
NM_001035.3(RYR2):c.*715_*716insGC
|
rs886046302
|
|
|
NM_001035.3(RYR2):c.*716del
|
rs397983403
|
|
|
NM_001035.3(RYR2):c.*716dup
|
rs397983403
|
|
|
NM_001035.3(RYR2):c.*717G>C
|
rs867345276
|
|
|
NM_001035.3(RYR2):c.*717GCCCCC[1]
|
rs886046299
|
|
|
NM_001035.3(RYR2):c.*723G>C
|
rs1348404826
|
|
|
NM_001035.3(RYR2):c.*79C>A
|
rs886046282
|
|
|
NM_001035.3(RYR2):c.*84del
|
rs764277833
|
|
|
NM_001035.3(RYR2):c.*890_*893dup
|
rs10667874
|
|
|
NM_001035.3(RYR2):c.-20C>A
|
rs778527185
|
|
|
NM_001035.3(RYR2):c.-27C>A
|
rs886046260
|
|
|
NM_001035.3(RYR2):c.10017C>A (p.His3339Gln)
|
|
|
|
NM_001035.3(RYR2):c.10020G>T (p.Leu3340=)
|
rs2149066994
|
|
|
NM_001035.3(RYR2):c.10024G>C (p.Ala3342Pro)
|
rs779445295
|
|
|
NM_001035.3(RYR2):c.10026T>C (p.Ala3342=)
|
rs2149067032
|
|
|
NM_001035.3(RYR2):c.10031_10034del (p.Ala3344fs)
|
|
|
|
NM_001035.3(RYR2):c.10032C>G (p.Ala3344=)
|
rs2149067070
|
|
|
NM_001035.3(RYR2):c.10035G>C (p.Arg3345Ser)
|
rs754976419
|
|
|
NM_001035.3(RYR2):c.10035G>T (p.Arg3345Ser)
|
rs754976419
|
|
|
NM_001035.3(RYR2):c.10038G>A (p.Gly3346=)
|
|
|
|
NM_001035.3(RYR2):c.10038G>T (p.Gly3346=)
|
|
|
|
NM_001035.3(RYR2):c.10041C>T (p.Asp3347=)
|
|
|
|
NM_001035.3(RYR2):c.10042A>G (p.Met3348Val)
|
rs2149067182
|
|
|
NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu)
|
rs786205455
|
|
|
NM_001035.3(RYR2):c.1005+19T>G
|
|
|
|
NM_001035.3(RYR2):c.1005+1G>A
|
rs1705774837
|
|
|
NM_001035.3(RYR2):c.1005+3G>A
|
rs1705775231
|
|
|
NM_001035.3(RYR2):c.1005+7C>G
|
rs774100182
|
|
|
NM_001035.3(RYR2):c.1005+9G>A
|
rs1052046365
|
|
|
NM_001035.3(RYR2):c.10051G>A (p.Ala3351Thr)
|
rs1057524349
|
|
|
NM_001035.3(RYR2):c.10051G>T (p.Ala3351Ser)
|
rs1057524349
|
|
|
NM_001035.3(RYR2):c.10059C>T (p.Leu3353=)
|
rs370015676
|
|
|
NM_001035.3(RYR2):c.1005G>T (p.Lys335Asn)
|
rs2150058766
|
|
|
NM_001035.3(RYR2):c.1006-15C>T
|
|
|
|
NM_001035.3(RYR2):c.1006-15del
|
|
|
|
NM_001035.3(RYR2):c.1006-20T>A
|
rs2150146334
|
|
|
NM_001035.3(RYR2):c.1006-8C>T
|
rs1425668743
|
|
|
NM_001035.3(RYR2):c.10062C>T (p.Leu3354=)
|
rs931521804
|
|
|
NM_001035.3(RYR2):c.10067T>A (p.Leu3356Gln)
|
|
|
|
NM_001035.3(RYR2):c.10076T>C (p.Phe3359Ser)
|
|
|
|
NM_001035.3(RYR2):c.10078A>G (p.Thr3360Ala)
|
|
|
|
NM_001035.3(RYR2):c.1007A>G (p.Glu336Gly)
|
rs1553453324
|
|
|
NM_001035.3(RYR2):c.10084C>G (p.Leu3362Val)
|
|
|
|
NM_001035.3(RYR2):c.1008A>G (p.Glu336=)
|
|
|
|
NM_001035.3(RYR2):c.10093G>A (p.Asp3365Asn)
|
rs1688609248
|
|
|
NM_001035.3(RYR2):c.10098C>G (p.Leu3366=)
|
|
|
|
NM_001035.3(RYR2):c.10098C>T (p.Leu3366=)
|
|
|
|
NM_001035.3(RYR2):c.100A>G (p.Lys34Glu)
|
rs876661385
|
|
|
NM_001035.3(RYR2):c.10105T>C (p.Phe3369Leu)
|
|
|
|
NM_001035.3(RYR2):c.10121T>C (p.Ile3374Thr)
|
|
|
|
NM_001035.3(RYR2):c.10127T>A (p.Phe3376Tyr)
|
rs876657983
|
|
|
NM_001035.3(RYR2):c.10137T>C (p.Tyr3379=)
|
|
|
|
NM_001035.3(RYR2):c.10142+15A>C
|
|
|
|
NM_001035.3(RYR2):c.10142+15A>G
|
|
|
|
NM_001035.3(RYR2):c.10142+8C>G
|
|
|
|
NM_001035.3(RYR2):c.10142G>A (p.Arg3381Lys)
|
rs1060500154
|
|
|
NM_001035.3(RYR2):c.10143-15_10143-12del
|
rs2149069509
|
|
|
NM_001035.3(RYR2):c.10145C>G (p.Ala3382Gly)
|
rs1688652177
|
|
|
NM_001035.3(RYR2):c.10146A>C (p.Ala3382=)
|
rs773965844
|
|
|
NM_001035.3(RYR2):c.10146A>T (p.Ala3382=)
|
|
|
|
NM_001035.3(RYR2):c.10171G>A (p.Glu3391Lys)
|
|
|
|
NM_001035.3(RYR2):c.10174G>T (p.Ala3392Ser)
|
rs1325112585
|
|
|
NM_001035.3(RYR2):c.1017T>G (p.Asp339Glu)
|
|
|
|
NM_001035.3(RYR2):c.10189C>G (p.Arg3397Gly)
|
|
|
|
NM_001035.3(RYR2):c.10190G>A (p.Arg3397His)
|
rs753630324
|
|
|
NM_001035.3(RYR2):c.10190G>T (p.Arg3397Leu)
|
rs753630324
|
|
|
NM_001035.3(RYR2):c.10198G>T (p.Ala3400Ser)
|
|
|
|
NM_001035.3(RYR2):c.10205T>C (p.Val3402Ala)
|
rs1553294519
|
|
|
NM_001035.3(RYR2):c.10209dup (p.Ile3404fs)
|
rs1688657241
|
|
|
NM_001035.3(RYR2):c.10224G>A (p.Lys3408=)
|
|
|
|
NM_001035.3(RYR2):c.10230+16T>C
|
|
|
|
NM_001035.3(RYR2):c.10230+9_10230+15del
|
rs1573617993
|
|
|
NM_001035.3(RYR2):c.10231-11C>T
|
rs1688861182
|
|
|
NM_001035.3(RYR2):c.10231-17C>A
|
|
|
|
NM_001035.3(RYR2):c.1023G>A (p.Gly341=)
|
|
|
|
NM_001035.3(RYR2):c.10241G>A (p.Arg3414Lys)
|
rs1131692324
|
|
|
NM_001035.3(RYR2):c.10248G>A (p.Glu3416=)
|
|
|
|
NM_001035.3(RYR2):c.10287T>C (p.Ser3429=)
|
rs1301505729
|
|
|
NM_001035.3(RYR2):c.10299T>A (p.Thr3433=)
|
|
|
|
NM_001035.3(RYR2):c.102G>T (p.Lys34Asn)
|
|
|
|
NM_001035.3(RYR2):c.10302T>C (p.Asp3434=)
|
rs775183266
|
|
|
NM_001035.3(RYR2):c.10310C>T (p.Ser3437Leu)
|
|
|
|
NM_001035.3(RYR2):c.10314G>T (p.Lys3438Asn)
|
rs2149079692
|
|
|
NM_001035.3(RYR2):c.10315A>G (p.Met3439Val)
|
|
|
|
NM_001035.3(RYR2):c.1031_1035del (p.Lys344fs)
|
rs2150146622
|
|
|
NM_001035.3(RYR2):c.10323+13dup
|
rs886046276
|
|
|
NM_001035.3(RYR2):c.10323+15T>A
|
|
|
|
NM_001035.3(RYR2):c.10323+20C>T
|
|
|
|
NM_001035.3(RYR2):c.10323+9A>G
|
|
|
|
NM_001035.3(RYR2):c.10324-10T>G
|
rs2149100282
|
|
|
NM_001035.3(RYR2):c.10324-11_10324-10del
|
rs2149100270
|
|
|
NM_001035.3(RYR2):c.10324-12T>C
|
|
|
|
NM_001035.3(RYR2):c.10324-13C>T
|
|
|
|
NM_001035.3(RYR2):c.10324-17T>G
|
|
|
|
NM_001035.3(RYR2):c.10324-19A>C
|
rs2149100202
|
|
|
NM_001035.3(RYR2):c.10324-7T>C
|
rs2149100302
|
|
|
NM_001035.3(RYR2):c.10324-9G>A
|
rs1238809463
|
|
|
NM_001035.3(RYR2):c.10325C>T (p.Ala3442Val)
|
rs727503403
|
|
|
NM_001035.3(RYR2):c.1032del (p.Glu345fs)
|
rs1707880851
|
|
|
NM_001035.3(RYR2):c.1033G>C (p.Glu345Gln)
|
|
|
|
NM_001035.3(RYR2):c.10342G>C (p.Glu3448Gln)
|
rs1553298016
|
|
|
NM_001035.3(RYR2):c.10344A>G (p.Glu3448=)
|
|
|
|
NM_001035.3(RYR2):c.10348A>C (p.Lys3450Gln)
|
|
|
|
NM_001035.3(RYR2):c.10360C>G (p.Arg3454Gly)
|
|
|
|
NM_001035.3(RYR2):c.10364A>G (p.Lys3455Arg)
|
rs1573649552
|
|
|
NM_001035.3(RYR2):c.10372C>T (p.Arg3458Trp)
|
|
|
|
NM_001035.3(RYR2):c.10374G>T (p.Arg3458=)
|
|
|
|
NM_001035.3(RYR2):c.10376A>G (p.Tyr3459Cys)
|
|
|
|
NM_001035.3(RYR2):c.1037T>G (p.Val346Gly)
|
|
|
|
NM_001035.3(RYR2):c.10384C>T (p.Gln3462Ter)
|
|
|
|
NM_001035.3(RYR2):c.103C>G (p.Leu35Val)
|
rs1689577425
|
|
|
NM_001035.3(RYR2):c.10405G>C (p.Ala3469Pro)
|
rs759811978
|
|
|
NM_001035.3(RYR2):c.10407T>G (p.Ala3469=)
|
|
|
|
NM_001035.3(RYR2):c.10414C>T (p.Arg3472Trp)
|
rs1689344988
|
|
|
NM_001035.3(RYR2):c.10415G>A (p.Arg3472Gln)
|
|
|
|
NM_001035.3(RYR2):c.10417T>C (p.Leu3473=)
|
rs767626639
|
|
|
NM_001035.3(RYR2):c.10425C>G (p.Pro3475=)
|
rs756160043
|
|
|
NM_001035.3(RYR2):c.10427T>C (p.Ile3476Thr)
|
rs764621718
|
|
|
NM_001035.3(RYR2):c.10430G>A (p.Gly3477Glu)
|
rs1468634766
|
|
|
NM_001035.3(RYR2):c.10433T>C (p.Leu3478Ser)
|
|
|
|
NM_001035.3(RYR2):c.10434G>A (p.Leu3478=)
|
rs2149100807
|
|
|
NM_001035.3(RYR2):c.10438A>T (p.Ile3480Phe)
|
|
|
|
NM_001035.3(RYR2):c.10446C>T (p.Ala3482=)
|
rs746150182
|
|
|
NM_001035.3(RYR2):c.10465A>G (p.Ile3489Val)
|
|
|
|
NM_001035.3(RYR2):c.10468G>A (p.Ala3490Thr)
|
|
|
|
NM_001035.3(RYR2):c.10478A>G (p.Lys3493Arg)
|
rs2149100952
|
|
|
NM_001035.3(RYR2):c.10483C>T (p.Arg3495Ter)
|
rs2149100975
|
|
|
NM_001035.3(RYR2):c.10491C>G (p.Ser3497Arg)
|
|
|
|
NM_001035.3(RYR2):c.10494+1G>T
|
|
|
|
NM_001035.3(RYR2):c.10494+7_10494+11dup
|
|
|
|
NM_001035.3(RYR2):c.10494+8_10494+9del
|
rs760691531
|
|
|
NM_001035.3(RYR2):c.10495-12A>G
|
|
|
|
NM_001035.3(RYR2):c.10495-16AT[2]
|
rs764166022
|
|
|
NM_001035.3(RYR2):c.10495-9T>C
|
|
|
|
NM_001035.3(RYR2):c.10501A>G (p.Thr3501Ala)
|
rs1689443133
|
|
|
NM_001035.3(RYR2):c.10502_10503delinsTT (p.Thr3501Ile)
|
rs1558281668
|
|
|
NM_001035.3(RYR2):c.10503C>A (p.Thr3501=)
|
rs2797441
|
|
|
NM_001035.3(RYR2):c.10505A>C (p.Glu3502Ala)
|
|
|
|
NM_001035.3(RYR2):c.10505A>G (p.Glu3502Gly)
|
|
|
|
NM_001035.3(RYR2):c.10515A>T (p.Val3505=)
|
|
|
|
NM_001035.3(RYR2):c.10524A>G (p.Ile3508Met)
|
rs770094996
|
|
|
NM_001035.3(RYR2):c.10528C>A (p.Arg3510Ser)
|
rs201749277
|
|
|
NM_001035.3(RYR2):c.10528C>T (p.Arg3510Cys)
|
rs201749277
|
|
|
NM_001035.3(RYR2):c.10537A>G (p.Ile3513Val)
|
|
|
|
NM_001035.3(RYR2):c.10545A>G (p.Leu3515=)
|
rs1246758548
|
|
|
NM_001035.3(RYR2):c.1054T>C (p.Ser352Pro)
|
rs2150146732
|
|
|
NM_001035.3(RYR2):c.10554+6C>A
|
|
|
|
NM_001035.3(RYR2):c.10555-16T>C
|
|
|
|
NM_001035.3(RYR2):c.10555-2A>C
|
|
|
|
NM_001035.3(RYR2):c.10555-2A>G
|
|
|
|
NM_001035.3(RYR2):c.10555-3C>T
|
rs1202806553
|
|
|
NM_001035.3(RYR2):c.10555-7dup
|
rs776795619
|
|
|
NM_001035.3(RYR2):c.10555-9T>C
|
|
|
|
NM_001035.3(RYR2):c.10557G>A (p.Leu3519=)
|
rs558910032
|
|
|
NM_001035.3(RYR2):c.10574G>A (p.Arg3525Lys)
|
rs2149125484
|
|
|
NM_001035.3(RYR2):c.10591T>C (p.Tyr3531His)
|
rs1689893434
|
|
|
NM_001035.3(RYR2):c.10616A>G (p.Asp3539Gly)
|
rs1689895717
|
|
|
NM_001035.3(RYR2):c.10617T>C (p.Asp3539=)
|
|
|
|
NM_001035.3(RYR2):c.10620T>C (p.Asp3540=)
|
rs2149125659
|
|
|
NM_001035.3(RYR2):c.10626A>G (p.Ser3542=)
|
|
|
|
NM_001035.3(RYR2):c.10630_10652dup (p.Val3551_Leu3552insGlnArgArgArgTer)
|
|
|
|
NM_001035.3(RYR2):c.10631C>G (p.Pro3544Arg)
|
rs752032924
|
|
|
NM_001035.3(RYR2):c.10631C>T (p.Pro3544Leu)
|
rs752032924
|
|
|
NM_001035.3(RYR2):c.10632A>G (p.Pro3544=)
|
rs1689897244
|
|
|
NM_001035.3(RYR2):c.10635G>A (p.Glu3545=)
|
rs1558290780
|
|
|
NM_001035.3(RYR2):c.10643T>C (p.Val3548Ala)
|
|
|
|
NM_001035.3(RYR2):c.10648A>G (p.Arg3550Gly)
|
rs1553300589
|
|
|
NM_001035.3(RYR2):c.10649G>C (p.Arg3550Thr)
|
rs1689899254
|
|
|
NM_001035.3(RYR2):c.10651G>A (p.Val3551Ile)
|
|
|
|
NM_001035.3(RYR2):c.10656G>A (p.Leu3552=)
|
|
|
|
NM_001035.3(RYR2):c.10659T>C (p.Asp3553=)
|
|
|
|
NM_001035.3(RYR2):c.10663G>A (p.Ala3555Thr)
|
rs1689900582
|
|
|
NM_001035.3(RYR2):c.10665A>T (p.Ala3555=)
|
rs764666057
|
|
|
NM_001035.3(RYR2):c.10669G>C (p.Val3557Leu)
|
rs2149125892
|
|
|
NM_001035.3(RYR2):c.10671G>A (p.Val3557=)
|
|
|
|
NM_001035.3(RYR2):c.10672C>A (p.Leu3558Ile)
|
rs1689901276
|
|
|
NM_001035.3(RYR2):c.10672C>T (p.Leu3558Phe)
|
rs1689901276
|
|
|
NM_001035.3(RYR2):c.10677T>C (p.Phe3559=)
|
rs2149125932
|
|
|
NM_001035.3(RYR2):c.10679A>G (p.His3560Arg)
|
|
|
|
NM_001035.3(RYR2):c.10680T>C (p.His3560=)
|
rs727503404
|
|
|
NM_001035.3(RYR2):c.10686A>G (p.Glu3562=)
|
rs1553300632
|
|
|
NM_001035.3(RYR2):c.10689+12T>C
|
|
|
|
NM_001035.3(RYR2):c.10689+13G>A
|
|
|
|
NM_001035.3(RYR2):c.10689+17A>G
|
|
|
|
NM_001035.3(RYR2):c.10690-4T>A
|
rs1219349222
|
|
|
NM_001035.3(RYR2):c.10690-6T>C
|
rs1314601816
|
|
|
NM_001035.3(RYR2):c.10690A>C (p.Lys3564Gln)
|
|
|
|
NM_001035.3(RYR2):c.10692G>A (p.Lys3564=)
|
|
|
|
NM_001035.3(RYR2):c.1069G>A (p.Gly357Ser)
|
rs1401116572
|
|
|
NM_001035.3(RYR2):c.10704G>A (p.Val3568=)
|
rs1000043466
|
|
|
NM_001035.3(RYR2):c.10707T>C (p.Gly3569=)
|
rs2149138721
|
|
|
NM_001035.3(RYR2):c.1070G>A (p.Gly357Asp)
|
|
|
|
NM_001035.3(RYR2):c.10715A>G (p.His3572Arg)
|
|
|
|
NM_001035.3(RYR2):c.1071T>A (p.Gly357=)
|
rs2150146835
|
|
|
NM_001035.3(RYR2):c.10725+17dup
|
|
|
|
NM_001035.3(RYR2):c.10725+20G>A
|
|
|
|
NM_001035.3(RYR2):c.10725+2G>A
|
|
|
|
NM_001035.3(RYR2):c.10725+6T>C
|
rs2149138948
|
|
|
NM_001035.3(RYR2):c.10725+7A>G
|
rs2149138963
|
|
|
NM_001035.3(RYR2):c.10726-19T>G
|
|
|
|
NM_001035.3(RYR2):c.10726-7A>G
|
|
|
|
NM_001035.3(RYR2):c.1073A>G (p.Asp358Gly)
|
rs2150146849
|
|
|
NM_001035.3(RYR2):c.10741A>G (p.Arg3581Gly)
|
rs1690263854
|
|
|
NM_001035.3(RYR2):c.10742G>A (p.Arg3581Lys)
|
rs1390354432
|
|
|
NM_001035.3(RYR2):c.10749A>G (p.Lys3583=)
|
|
|
|
NM_001035.3(RYR2):c.10758A>G (p.Val3586=)
|
rs2149142188
|
|
|
NM_001035.3(RYR2):c.1075T>C (p.Ser359Pro)
|
|
|
|
NM_001035.3(RYR2):c.10765A>C (p.Lys3589Gln)
|
|
|
|
NM_001035.3(RYR2):c.10766A>C (p.Lys3589Thr)
|
rs730880195
|
|
|
NM_001035.3(RYR2):c.10770A>G (p.Leu3590=)
|
rs903446046
|
|
|
NM_001035.3(RYR2):c.10773G>A (p.Leu3591=)
|
|
|
|
NM_001035.3(RYR2):c.10779G>A (p.Lys3593=)
|
|
|
|
NM_001035.3(RYR2):c.10806C>T (p.Cys3602=)
|
|
|
|
NM_001035.3(RYR2):c.10810C>T (p.Arg3604Trp)
|
|
|
|
NM_001035.3(RYR2):c.10811G>A (p.Arg3604Gln)
|
rs56228594
|
|
|
NM_001035.3(RYR2):c.10817C>T (p.Ala3606Val)
|
|
|
|
NM_001035.3(RYR2):c.10818C>T (p.Ala3606=)
|
rs1558298221
|
|
|
NM_001035.3(RYR2):c.10824A>G (p.Leu3608=)
|
rs1223609812
|
|
|
NM_001035.3(RYR2):c.10825T>C (p.Tyr3609His)
|
|
|
|
NM_001035.3(RYR2):c.10829A>G (p.Asn3610Ser)
|
|
|
|
NM_001035.3(RYR2):c.1082G>A (p.Cys361Tyr)
|
rs794728719
|
|
|
NM_001035.3(RYR2):c.10837A>G (p.Arg3613Gly)
|
rs2149142608
|
|
|
NM_001035.3(RYR2):c.10838+14T>C
|
|
|
|
NM_001035.3(RYR2):c.10838+15del
|
|
|
|
NM_001035.3(RYR2):c.10839-17T>C
|
|
|
|
NM_001035.3(RYR2):c.10839-8C>T
|
rs2149159271
|
|
|
NM_001035.3(RYR2):c.10841A>T (p.His3614Leu)
|
|
|
|
NM_001035.3(RYR2):c.10853A>G (p.Asn3618Ser)
|
rs1690559112
|
|
|
NM_001035.3(RYR2):c.10860_10863del (p.Leu3621fs)
|
|
|
|
NM_001035.3(RYR2):c.10878G>A (p.Lys3626=)
|
|
|
|
NM_001035.3(RYR2):c.10888G>C (p.Glu3630Gln)
|
rs747565166
|
|
|
NM_001035.3(RYR2):c.10893A>T (p.Thr3631=)
|
rs1207013704
|
|
|
NM_001035.3(RYR2):c.10904A>G (p.Tyr3635Cys)
|
rs886044331
|
|
|
NM_001035.3(RYR2):c.10914T>C (p.Asp3638=)
|
rs1690563932
|
|
|
NM_001035.3(RYR2):c.10916A>T (p.Lys3639Ile)
|
rs1312457776
|
|
|
NM_001035.3(RYR2):c.10922T>C (p.Ile3641Thr)
|
rs1060500145
|
|
|
NM_001035.3(RYR2):c.10933G>A (p.Ala3645Thr)
|
rs1558304228
|
|
|
NM_001035.3(RYR2):c.10935+11A>T
|
|
|
|
NM_001035.3(RYR2):c.10935+16G>T
|
|
|
|
NM_001035.3(RYR2):c.10935+17_10935+18delinsTT
|
rs1690568496
|
|
|
NM_001035.3(RYR2):c.10935+3A>C
|
|
|
|
NM_001035.3(RYR2):c.10935+4T>C
|
|
|
|
NM_001035.3(RYR2):c.10935+6T>C
|
rs773965672
|
|
|
NM_001035.3(RYR2):c.10935A>G (p.Ala3645=)
|
rs770623086
|
|
|
NM_001035.3(RYR2):c.10936-15T>A
|
rs372569768
|
|
|
NM_001035.3(RYR2):c.10936-15T>C
|
|
|
|
NM_001035.3(RYR2):c.10936-19A>G
|
|
|
|
NM_001035.3(RYR2):c.10936-5dup
|
|
|
|
NM_001035.3(RYR2):c.10936-8T>C
|
|
|
|
NM_001035.3(RYR2):c.1093C>G (p.His365Asp)
|
rs2150146977
|
|
|
NM_001035.3(RYR2):c.10940C>T (p.Pro3647Leu)
|
rs776678165
|
|
|
NM_001035.3(RYR2):c.10948G>C (p.Glu3650Gln)
|
rs1690737524
|
|
|
NM_001035.3(RYR2):c.10952C>T (p.Pro3651Leu)
|
|
|
|
NM_001035.3(RYR2):c.1095T>A (p.His365Gln)
|
rs1707886367
|
|
|
NM_001035.3(RYR2):c.10960G>C (p.Glu3654Gln)
|
|
|
|
NM_001035.3(RYR2):c.10963G>C (p.Asp3655His)
|
|
|
|
NM_001035.3(RYR2):c.10965T>C (p.Asp3655=)
|
rs1573718403
|
|
|
NM_001035.3(RYR2):c.10969G>A (p.Gly3657Ser)
|
rs1476256919
|
|
|
NM_001035.3(RYR2):c.10974T>C (p.Thr3658=)
|
rs2149168019
|
|
|
NM_001035.3(RYR2):c.10977G>A (p.Lys3659=)
|
rs2149168060
|
|
|
NM_001035.3(RYR2):c.10984G>C (p.Asp3662His)
|
|
|
|
NM_001035.3(RYR2):c.10992A>G (p.Leu3664=)
|
rs2149168131
|
|
|
NM_001035.3(RYR2):c.10993C>T (p.His3665Tyr)
|
rs1374577335
|
|
|
NM_001035.3(RYR2):c.10994A>G (p.His3665Arg)
|
|
|
|
NM_001035.3(RYR2):c.11003T>A (p.Ile3668Asn)
|
rs1573718675
|
|
|
NM_001035.3(RYR2):c.11004C>T (p.Ile3668=)
|
rs1464010382
|
|
|
NM_001035.3(RYR2):c.11005C>T (p.Leu3669Phe)
|
|
|
|
NM_001035.3(RYR2):c.11014A>C (p.Ser3672Arg)
|
|
|
|
NM_001035.3(RYR2):c.11017C>T (p.Arg3673Trp)
|
rs796052205
|
|
|
NM_001035.3(RYR2):c.11024C>A (p.Ala3675Asp)
|
|
|
|
NM_001035.3(RYR2):c.11024C>G (p.Ala3675Gly)
|
rs794728770
|
|
|
NM_001035.3(RYR2):c.11030C>A (p.Thr3677Lys)
|
|
|
|
NM_001035.3(RYR2):c.11037A>G (p.Lys3679=)
|
|
|
|
NM_001035.3(RYR2):c.11039+14G>C
|
rs748101859
|
|
|
NM_001035.3(RYR2):c.11039+17T>C
|
rs2149168464
|
|
|
NM_001035.3(RYR2):c.11039+4del
|
|
|
|
NM_001035.3(RYR2):c.11039+6G>A
|
rs779549361
|
|
|
NM_001035.3(RYR2):c.11039+9G>A
|
|
|
|
NM_001035.3(RYR2):c.11040-14C>A
|
|
|
|
NM_001035.3(RYR2):c.11040-19T>C
|
|
|
|
NM_001035.3(RYR2):c.11040-20T>C
|
|
|
|
NM_001035.3(RYR2):c.11068G>C (p.Ala3690Pro)
|
rs751278951
|
|
|
NM_001035.3(RYR2):c.11069C>T (p.Ala3690Val)
|
|
|
|
NM_001035.3(RYR2):c.1107C>T (p.Gly369=)
|
rs767221382
|
|
|
NM_001035.3(RYR2):c.11087C>A (p.Ala3696Glu)
|
rs1269339524
|
|
|
NM_001035.3(RYR2):c.11089A>G (p.Lys3697Glu)
|
|
|
|
NM_001035.3(RYR2):c.1108C>T (p.Leu370=)
|
rs534621173
|
|
|
NM_001035.3(RYR2):c.11091+11A>G
|
rs1690899283
|
|
|
NM_001035.3(RYR2):c.11091+13C>G
|
|
|
|
NM_001035.3(RYR2):c.11091+16T>G
|
|
|
|
NM_001035.3(RYR2):c.11091+16dup
|
|
|
|
NM_001035.3(RYR2):c.11091+20G>A
|
|
|
|
NM_001035.3(RYR2):c.11091+5A>G
|
|
|
|
NM_001035.3(RYR2):c.11092-16T>G
|
|
|
|
NM_001035.3(RYR2):c.11092-21_11092-5del
|
|
|
|
NM_001035.3(RYR2):c.11092-5T>C
|
rs1322016202
|
|
|
NM_001035.3(RYR2):c.11092-8del
|
rs752640368
|
|
|
NM_001035.3(RYR2):c.11092-8dup
|
|
|
|
NM_001035.3(RYR2):c.11099A>G (p.His3700Arg)
|
|
|
|
NM_001035.3(RYR2):c.11116G>T (p.Asp3706Tyr)
|
rs942040362
|
|
|
NM_001035.3(RYR2):c.11120G>A (p.Gly3707Asp)
|
rs755613281
|
|
|
NM_001035.3(RYR2):c.11133G>A (p.Val3711=)
|
|
|
|
NM_001035.3(RYR2):c.11140T>G (p.Phe3714Val)
|
rs794728771
|
|
|
NM_001035.3(RYR2):c.11144A>G (p.Glu3715Gly)
|
rs1573761441
|
|
|
NM_001035.3(RYR2):c.11145+18G>A
|
|
|
|
NM_001035.3(RYR2):c.11145+5G>A
|
rs1691689283
|
|
|
NM_001035.3(RYR2):c.11145A>C (p.Glu3715Asp)
|
rs2149211578
|
|
|
NM_001035.3(RYR2):c.11146-15G>T
|
rs1692945934
|
|
|
NM_001035.3(RYR2):c.11146-17T>C
|
|
|
|
NM_001035.3(RYR2):c.11146-19G>A
|
|
|
|
NM_001035.3(RYR2):c.11146-8G>A
|
rs1425021300
|
|
|
NM_001035.3(RYR2):c.11150A>G (p.Lys3717Arg)
|
rs1060500141
|
|
|
NM_001035.3(RYR2):c.11152G>T (p.Glu3718Ter)
|
|
|
|
NM_001035.3(RYR2):c.11164C>T (p.Gln3722Ter)
|
rs2149261821
|
|
|
NM_001035.3(RYR2):c.11168A>C (p.Lys3723Thr)
|
rs2149261830
|
|
|
NM_001035.3(RYR2):c.11169G>C (p.Lys3723Asn)
|
rs1692948108
|
|
|
NM_001035.3(RYR2):c.11171T>G (p.Leu3724Arg)
|
rs1692948283
|
|
|
NM_001035.3(RYR2):c.11175A>G (p.Leu3725=)
|
rs2149261872
|
|
|
NM_001035.3(RYR2):c.11176T>C (p.Tyr3726His)
|
rs1692948665
|
|
|
NM_001035.3(RYR2):c.11180A>G (p.Gln3727Arg)
|
rs1692948853
|
|
|
NM_001035.3(RYR2):c.11181G>A (p.Gln3727=)
|
|
|
|
NM_001035.3(RYR2):c.11181G>T (p.Gln3727His)
|
rs773884612
|
|
|
NM_001035.3(RYR2):c.11188C>T (p.Arg3730Ter)
|
rs2149261911
|
|
|
NM_001035.3(RYR2):c.11197G>A (p.Asp3733Asn)
|
rs760307737
|
|
|
NM_001035.3(RYR2):c.1119T>G (p.Thr373=)
|
rs202231354
|
|
|
NM_001035.3(RYR2):c.1119_1122del (p.Tyr374fs)
|
rs1707888448
|
|
|
NM_001035.3(RYR2):c.11200C>T (p.Arg3734Cys)
|
rs1060500150
|
|
|
NM_001035.3(RYR2):c.11202T>A (p.Arg3734=)
|
rs763792914
|
|
|
NM_001035.3(RYR2):c.11202T>G (p.Arg3734=)
|
rs763792914
|
|
|
NM_001035.3(RYR2):c.11207C>G (p.Ala3736Gly)
|
|
|
|
NM_001035.3(RYR2):c.11217G>A (p.Met3739Ile)
|
rs397516502
|
|
|
NM_001035.3(RYR2):c.11218G>T (p.Val3740Leu)
|
rs536555602
|
|
|
NM_001035.3(RYR2):c.11234G>T (p.Ser3745Ile)
|
rs1573821691
|
|
|
NM_001035.3(RYR2):c.11237C>A (p.Ala3746Asp)
|
rs1573821711
|
|
|
NM_001035.3(RYR2):c.11241C>G (p.Ser3747Arg)
|
rs1692954847
|
|
|
NM_001035.3(RYR2):c.11243A>G (p.Lys3748Arg)
|
|
|
|
NM_001035.3(RYR2):c.11245+18C>G
|
|
|
|
NM_001035.3(RYR2):c.11245+7T>G
|
rs548465188
|
|
|
NM_001035.3(RYR2):c.11245+9C>A
|
rs1692956819
|
|
|
NM_001035.3(RYR2):c.11246-17T>C
|
rs2149266209
|
|
|
NM_001035.3(RYR2):c.11246-3T>G
|
rs761460667
|
|
|
NM_001035.3(RYR2):c.11246-5C>A
|
|
|
|
NM_001035.3(RYR2):c.11246-6T>A
|
rs2149266259
|
|
|
NM_001035.3(RYR2):c.11246-8T>A
|
|
|
|
NM_001035.3(RYR2):c.11250A>G (p.Glu3750=)
|
|
|
|
NM_001035.3(RYR2):c.11281C>T (p.Leu3761Phe)
|
|
|
|
NM_001035.3(RYR2):c.11288T>C (p.Ile3763Thr)
|
rs1693078772
|
|
|
NM_001035.3(RYR2):c.1128T>C (p.Ser376=)
|
rs2150147217
|
|
|
NM_001035.3(RYR2):c.11293A>G (p.Ile3765Val)
|
rs767346230
|
|
|
NM_001035.3(RYR2):c.112G>A (p.Ala38Thr)
|
rs747977592
|
|
|
NM_001035.3(RYR2):c.11301T>A (p.Asn3767Lys)
|
rs1693079970
|
|
|
NM_001035.3(RYR2):c.11305G>A (p.Gly3769Arg)
|
|
|
|
NM_001035.3(RYR2):c.11312C>G (p.Ser3771Cys)
|
|
|
|
NM_001035.3(RYR2):c.11315C>T (p.Thr3772Ile)
|
|
|
|
NM_001035.3(RYR2):c.11321A>G (p.Gln3774Arg)
|
rs2149266454
|
|
|
NM_001035.3(RYR2):c.11325+7G>A
|
|
|
|
NM_001035.3(RYR2):c.11325+9T>C
|
|
|
|
NM_001035.3(RYR2):c.11326-10A>T
|
|
|
|
NM_001035.3(RYR2):c.11326-17T>G
|
|
|
|
NM_001035.3(RYR2):c.11326-19G>A
|
|
|
|
NM_001035.3(RYR2):c.11326A>G (p.Lys3776Glu)
|
rs1558357338
|
|
|
NM_001035.3(RYR2):c.11329A>G (p.Met3777Val)
|
rs2149272666
|
|
|
NM_001035.3(RYR2):c.11331G>T (p.Met3777Ile)
|
|
|
|
NM_001035.3(RYR2):c.11339A>G (p.Tyr3780Cys)
|
|
|
|
NM_001035.3(RYR2):c.11346G>A (p.Lys3782=)
|
|
|
|
NM_001035.3(RYR2):c.11355G>A (p.Lys3785=)
|
rs553416597
|
|
|
NM_001035.3(RYR2):c.11362G>A (p.Gly3788Ser)
|
rs775471018
|
|
|
NM_001035.3(RYR2):c.11376C>T (p.Ser3792=)
|
|
|
|
NM_001035.3(RYR2):c.11379G>A (p.Leu3793=)
|
|
|
|
NM_001035.3(RYR2):c.11380_11388del (p.Ala3794_Leu3796del)
|
rs1693267402
|
|
|
NM_001035.3(RYR2):c.11397A>G (p.Ser3799=)
|
rs1573837527
|
|
|
NM_001035.3(RYR2):c.11397A>T (p.Ser3799=)
|
|
|
|
NM_001035.3(RYR2):c.11398T>A (p.Cys3800Ser)
|
rs397516504
|
|
|
NM_001035.3(RYR2):c.11398T>C (p.Cys3800Arg)
|
rs397516504
|
|
|
NM_001035.3(RYR2):c.11399G>T (p.Cys3800Phe)
|
rs1239093704
|
|
|
NM_001035.3(RYR2):c.113C>A (p.Ala38Glu)
|
rs1689579128
|
|
|
NM_001035.3(RYR2):c.11402+4A>G
|
rs1553313446
|
|
|
NM_001035.3(RYR2):c.11402+7A>T
|
rs765365656
|
|
|
NM_001035.3(RYR2):c.11402+7_11402+9del
|
rs794728701
|
|
|
NM_001035.3(RYR2):c.11403-10G>T
|
rs1226426842
|
|
|
NM_001035.3(RYR2):c.11403-11T>C
|
rs2149276943
|
|
|
NM_001035.3(RYR2):c.11403-13C>T
|
|
|
|
NM_001035.3(RYR2):c.11403-14C>A
|
rs1284487377
|
|
|
NM_001035.3(RYR2):c.11403-17T>A
|
|
|
|
NM_001035.3(RYR2):c.11403-4A>G
|
rs1318526635
|
|
|
NM_001035.3(RYR2):c.11403T>C (p.Ser3801=)
|
rs1261086877
|
|
|
NM_001035.3(RYR2):c.11406C>T (p.Val3802=)
|
|
|
|
NM_001035.3(RYR2):c.11413C>T (p.Leu3805=)
|
|
|
|
NM_001035.3(RYR2):c.11420C>T (p.Ala3807Val)
|
|
|
|
NM_001035.3(RYR2):c.11427G>A (p.Glu3809=)
|
rs553350678
|
|
|
NM_001035.3(RYR2):c.11432A>C (p.Gln3811Pro)
|
rs1553313890
|
|
|
NM_001035.3(RYR2):c.11433A>C (p.Gln3811His)
|
|
|
|
NM_001035.3(RYR2):c.11444A>G (p.Glu3815Gly)
|
rs2149277178
|
|
|
NM_001035.3(RYR2):c.11447G>A (p.Gly3816Asp)
|
|
|
|
NM_001035.3(RYR2):c.11470G>T (p.Gly3824Ter)
|
rs2149277250
|
|
|
NM_001035.3(RYR2):c.11476+12_11476+37del
|
|
|
|
NM_001035.3(RYR2):c.11476+17T>A
|
|
|
|
NM_001035.3(RYR2):c.11476+9G>A
|
rs1019749781
|
|
|
NM_001035.3(RYR2):c.11477-8T>C
|
|
|
|
NM_001035.3(RYR2):c.1147A>G (p.Arg383Gly)
|
rs1707894005
|
|
|
NM_001035.3(RYR2):c.11503T>G (p.Phe3835Val)
|
|
|
|
NM_001035.3(RYR2):c.11505C>T (p.Phe3835=)
|
|
|
|
NM_001035.3(RYR2):c.11508C>T (p.Thr3836=)
|
|
|
|
NM_001035.3(RYR2):c.11515C>G (p.Leu3839Val)
|
|
|
|
NM_001035.3(RYR2):c.11528T>C (p.Leu3843Pro)
|
|
|
|
NM_001035.3(RYR2):c.11536C>T (p.Leu3846Phe)
|
rs1573882536
|
|
|
NM_001035.3(RYR2):c.11542G>A (p.Glu3848Lys)
|
rs1060500166
|
|
|
NM_001035.3(RYR2):c.1154G>A (p.Gly385Glu)
|
|
|
|
NM_001035.3(RYR2):c.11557+11C>T
|
rs1354704411
|
|
|
NM_001035.3(RYR2):c.11557+17A>T
|
|
|
|
NM_001035.3(RYR2):c.11557+3T>C
|
|
|
|
NM_001035.3(RYR2):c.11558-12dup
|
rs769193958
|
|
|
NM_001035.3(RYR2):c.11558-17T>G
|
|
|
|
NM_001035.3(RYR2):c.11558-18T>G
|
|
|
|
NM_001035.3(RYR2):c.11558-19A>G
|
|
|
|
NM_001035.3(RYR2):c.11558-19A>T
|
rs2149314406
|
|
|
NM_001035.3(RYR2):c.11558-4A>C
|
|
|
|
NM_001035.3(RYR2):c.11558-4del
|
rs2149314509
|
|
|
NM_001035.3(RYR2):c.1156T>C (p.Ser386Pro)
|
|
|
|
NM_001035.3(RYR2):c.11570A>G (p.Tyr3857Cys)
|
rs587782975
|
|
|
NM_001035.3(RYR2):c.11583G>T (p.Gln3861His)
|
|
|
|
NM_001035.3(RYR2):c.11588G>A (p.Gly3863Asp)
|
rs794728775
|
|
|
NM_001035.3(RYR2):c.11589C>T (p.Gly3863=)
|
|
|
|
NM_001035.3(RYR2):c.11590A>G (p.Asn3864Asp)
|
rs1573887621
|
|
|
NM_001035.3(RYR2):c.11604C>G (p.Val3868=)
|
|
|
|
NM_001035.3(RYR2):c.11606A>G (p.Asn3869Ser)
|
rs1246024470
|
|
|
NM_001035.3(RYR2):c.11611A>G (p.Ile3871Val)
|
|
|
|
NM_001035.3(RYR2):c.11615T>C (p.Ile3872Thr)
|
rs2149314712
|
|
|
NM_001035.3(RYR2):c.11621C>T (p.Thr3874Ile)
|
rs2149314726
|
|
|
NM_001035.3(RYR2):c.11623G>A (p.Val3875Ile)
|
rs1060500137
|
|
|
NM_001035.3(RYR2):c.11623G>T (p.Val3875Leu)
|
rs1060500137
|
|
|
NM_001035.3(RYR2):c.11624T>C (p.Val3875Ala)
|
rs1558381851
|
|
|
NM_001035.3(RYR2):c.11632C>G (p.Leu3878Val)
|
rs1694316783
|
|
|
NM_001035.3(RYR2):c.11639G>A (p.Arg3880Lys)
|
rs766515965
|
|
|
NM_001035.3(RYR2):c.11643T>G (p.Val3881=)
|
rs1558381908
|
|
|
NM_001035.3(RYR2):c.11646+17A>G
|
|
|
|
NM_001035.3(RYR2):c.11646+19T>G
|
|
|
|
NM_001035.3(RYR2):c.11646+1G>T
|
rs2149314836
|
|
|
NM_001035.3(RYR2):c.11646+7T>G
|
rs2149314843
|
|
|
NM_001035.3(RYR2):c.11646+8G>A
|
|
|
|
NM_001035.3(RYR2):c.11646+8G>T
|
|
|
|
NM_001035.3(RYR2):c.11646+9C>A
|
rs2149314865
|
|
|
NM_001035.3(RYR2):c.11647-15_11647-13del
|
|
|
|
NM_001035.3(RYR2):c.11647-16C>T
|
|
|
|
NM_001035.3(RYR2):c.11647-7T>C
|
rs771126125
|
|
|
NM_001035.3(RYR2):c.11647-9A>G
|
|
|
|
NM_001035.3(RYR2):c.11655T>C (p.Ile3885=)
|
rs2149319005
|
|
|
NM_001035.3(RYR2):c.11661C>T (p.Asp3887=)
|
rs759576710
|
|
|
NM_001035.3(RYR2):c.1166G>C (p.Arg389Pro)
|
rs200685968
|
|
|
NM_001035.3(RYR2):c.11672A>G (p.Tyr3891Cys)
|
|
|
|
NM_001035.3(RYR2):c.11676C>T (p.Tyr3892=)
|
rs1168445245
|
|
|
NM_001035.3(RYR2):c.11688T>C (p.Asp3896=)
|
|
|
|
NM_001035.3(RYR2):c.11689G>C (p.Val3897Leu)
|
|
|
|
NM_001035.3(RYR2):c.1170+16A>G
|
|
|
|
NM_001035.3(RYR2):c.1170+19A>T
|
rs1707901143
|
|
|
NM_001035.3(RYR2):c.1170+19dup
|
rs1167148257
|
|
|
NM_001035.3(RYR2):c.1170+1G>C
|
rs1707898107
|
|
|
NM_001035.3(RYR2):c.1171-12G>A
|
|
|
|
NM_001035.3(RYR2):c.1171-18A>C
|
|
|
|
NM_001035.3(RYR2):c.1171-18A>G
|
|
|
|
NM_001035.3(RYR2):c.1171-18del
|
|
|
|
NM_001035.3(RYR2):c.11710C>T (p.Arg3904Trp)
|
rs998659755
|
|
|
NM_001035.3(RYR2):c.11711G>A (p.Arg3904Gln)
|
|
|
|
NM_001035.3(RYR2):c.11725G>A (p.Ala3909Thr)
|
|
|
|
NM_001035.3(RYR2):c.1172C>A (p.Ala391Asp)
|
rs374306538
|
|
|
NM_001035.3(RYR2):c.11754C>A (p.Asn3918Lys)
|
rs886046278
|
|
|
NM_001035.3(RYR2):c.11756C>G (p.Thr3919Ser)
|
rs1694434184
|
|
|
NM_001035.3(RYR2):c.11757T>C (p.Thr3919=)
|
rs1694434380
|
|
|
NM_001035.3(RYR2):c.1175T>C (p.Ile392Thr)
|
rs1267247155
|
|
|
NM_001035.3(RYR2):c.11760T>A (p.Leu3920=)
|
|
|
|
NM_001035.3(RYR2):c.11760T>C (p.Leu3920=)
|
|
|
|
NM_001035.3(RYR2):c.11760del (p.Thr3921fs)
|
|
|
|
NM_001035.3(RYR2):c.11762C>G (p.Thr3921Arg)
|
|
|
|
NM_001035.3(RYR2):c.11765A>G (p.Glu3922Gly)
|
|
|
|
NM_001035.3(RYR2):c.11768A>G (p.Tyr3923Cys)
|
|
|
|
NM_001035.3(RYR2):c.11775+9T>C
|
|
|
|
NM_001035.3(RYR2):c.11776-13G>T
|
|
|
|
NM_001035.3(RYR2):c.11776-17G>A
|
|
|
|
NM_001035.3(RYR2):c.11776-17G>T
|
|
|
|
NM_001035.3(RYR2):c.11776-18T>A
|
|
|
|
NM_001035.3(RYR2):c.11776-18T>G
|
rs746044321
|
|
|
NM_001035.3(RYR2):c.11776-3C>T
|
|
|
|
NM_001035.3(RYR2):c.11776-7G>A
|
|
|
|
NM_001035.3(RYR2):c.11776-9A>G
|
|
|
|
NM_001035.3(RYR2):c.11778T>G (p.Gly3926=)
|
rs2149335282
|
|
|
NM_001035.3(RYR2):c.11779C>T (p.Pro3927Ser)
|
rs2149335295
|
|
|
NM_001035.3(RYR2):c.1177A>T (p.Met393Leu)
|
|
|
|
NM_001035.3(RYR2):c.11784C>T (p.Cys3928=)
|
rs764651068
|
|
|
NM_001035.3(RYR2):c.11787T>C (p.Thr3929=)
|
|
|
|
NM_001035.3(RYR2):c.11788G>C (p.Gly3930Arg)
|
rs1573911397
|
|
|
NM_001035.3(RYR2):c.11794C>A (p.Gln3932Lys)
|
rs2149335347
|
|
|
NM_001035.3(RYR2):c.1179G>A (p.Met393Ile)
|
rs80313920
|
|
|
NM_001035.3(RYR2):c.11800A>T (p.Ser3934Cys)
|
|
|
|
NM_001035.3(RYR2):c.11805G>C (p.Leu3935Phe)
|
|
|
|
NM_001035.3(RYR2):c.11808A>C (p.Ala3936=)
|
|
|
|
NM_001035.3(RYR2):c.11812A>C (p.Ser3938Arg)
|
rs794728825
|
|
|
NM_001035.3(RYR2):c.11814C>A (p.Ser3938Arg)
|
rs794728704
|
|
|
NM_001035.3(RYR2):c.11827G>A (p.Ala3943Thr)
|
rs762237329
|
|
|
NM_001035.3(RYR2):c.11833G>A (p.Val3945Ile)
|
|
|
|
NM_001035.3(RYR2):c.11836G>A (p.Gly3946Ser)
|
rs794728777
|
|
|
NM_001035.3(RYR2):c.11836G>C (p.Gly3946Arg)
|
rs794728777
|
|
|
NM_001035.3(RYR2):c.11837G>A (p.Gly3946Asp)
|
rs1226397753
|
|
|
NM_001035.3(RYR2):c.11848G>C (p.Val3950Leu)
|
|
|
|
NM_001035.3(RYR2):c.11863C>A (p.Gln3955Lys)
|
|
|
|
NM_001035.3(RYR2):c.11863C>G (p.Gln3955Glu)
|
rs1558393802
|
|
|
NM_001035.3(RYR2):c.11865G>C (p.Gln3955His)
|
rs1573911593
|
|
|
NM_001035.3(RYR2):c.11877G>T (p.Ser3959=)
|
rs754610647
|
|
|
NM_001035.3(RYR2):c.11880+11T>C
|
|
|
|
NM_001035.3(RYR2):c.11880+14C>G
|
|
|
|
NM_001035.3(RYR2):c.11880+14C>T
|
rs756052547
|
|
|
NM_001035.3(RYR2):c.11880+3_11880+6del
|
rs1694864201
|
|
|
NM_001035.3(RYR2):c.11880+4AACT[2]
|
rs773240729
|
|
|
NM_001035.3(RYR2):c.11880+4AACT[4]
|
rs773240729
|
|
|
NM_001035.3(RYR2):c.11881-10A>G
|
rs1573922749
|
|
|
NM_001035.3(RYR2):c.1188A>G (p.Glu396=)
|
rs2150166045
|
|
|
NM_001035.3(RYR2):c.11901A>C (p.Leu3967=)
|
rs2149344840
|
|
|
NM_001035.3(RYR2):c.11908G>T (p.Glu3970Ter)
|
rs2149344856
|
|
|
NM_001035.3(RYR2):c.11911T>C (p.Leu3971=)
|
rs1393069119
|
|
|
NM_001035.3(RYR2):c.11912_11915del (p.Leu3971fs)
|
|
|
|
NM_001035.3(RYR2):c.11914A>G (p.Met3972Val)
|
rs1085307997
|
|
|
NM_001035.3(RYR2):c.11916G>A (p.Met3972Ile)
|
rs1308840171
|
|
|
NM_001035.3(RYR2):c.11917G>T (p.Asp3973Tyr)
|
|
|
|
NM_001035.3(RYR2):c.11919T>G (p.Asp3973Glu)
|
rs370103782
|
|
|
NM_001035.3(RYR2):c.11920C>A (p.Leu3974Met)
|
|
|
|
NM_001035.3(RYR2):c.11928G>T (p.Lys3976Asn)
|
rs2149344926
|
|
|
NM_001035.3(RYR2):c.11937G>A (p.Val3979=)
|
|
|
|
NM_001035.3(RYR2):c.11939T>A (p.Val3980Asp)
|
rs1573923041
|
|
|
NM_001035.3(RYR2):c.11940C>T (p.Val3980=)
|
|
|
|
NM_001035.3(RYR2):c.11946G>T (p.Leu3982Phe)
|
rs2149344987
|
|
|
NM_001035.3(RYR2):c.1194C>T (p.His398=)
|
rs794728816
|
|
|
NM_001035.3(RYR2):c.11950T>C (p.Ser3984Pro)
|
rs1695118126
|
|
|
NM_001035.3(RYR2):c.11954_11957dup (p.Leu3986fs)
|
|
|
|
NM_001035.3(RYR2):c.11959G>C (p.Glu3987Gln)
|
rs794728778
|
|
|
NM_001035.3(RYR2):c.1195A>G (p.Met399Val)
|
rs1708243371
|
|
|
NM_001035.3(RYR2):c.11962+12T>G
|
|
|
|
NM_001035.3(RYR2):c.11962+13del
|
|
|
|
NM_001035.3(RYR2):c.11962+15T>C
|
|
|
|
NM_001035.3(RYR2):c.11962+1_11962+4dup
|
rs2149345025
|
|
|
NM_001035.3(RYR2):c.11962+20T>C
|
|
|
|
NM_001035.3(RYR2):c.11962+20_11962+21del
|
|
|
|
NM_001035.3(RYR2):c.11962+9_11962+13dup
|
rs764190942
|
|
|
NM_001035.3(RYR2):c.11963-11T>G
|
rs790889
|
|
|
NM_001035.3(RYR2):c.11963-19G>A
|
|
|
|
NM_001035.3(RYR2):c.11963G>A (p.Gly3988Asp)
|
|
|
|
NM_001035.3(RYR2):c.11964T>A (p.Gly3988=)
|
|
|
|
NM_001035.3(RYR2):c.11965A>G (p.Asn3989Asp)
|
rs794728779
|
|
|
NM_001035.3(RYR2):c.11967T>G (p.Asn3989Lys)
|
rs2149351960
|
|
|
NM_001035.3(RYR2):c.11969T>C (p.Val3990Ala)
|
rs1210976038
|
|
|
NM_001035.3(RYR2):c.1196T>C (p.Met399Thr)
|
rs1708243535
|
|
|
NM_001035.3(RYR2):c.11971G>A (p.Val3991Ile)
|
|
|
|
NM_001035.3(RYR2):c.1197G>C (p.Met399Ile)
|
|
|
|
NM_001035.3(RYR2):c.11984T>C (p.Ile3995Thr)
|
|
|
|
NM_001035.3(RYR2):c.11986G>A (p.Gly3996Ser)
|
rs1060500160
|
|
|
NM_001035.3(RYR2):c.11989A>G (p.Lys3997Glu)
|
rs1064794210
|
|
|
NM_001035.3(RYR2):c.1198G>A (p.Asp400Asn)
|
rs1553454821
|
|
|
NM_001035.3(RYR2):c.11992C>T (p.Gln3998Ter)
|
rs1558403704
|
|
|
NM_001035.3(RYR2):c.1199A>C (p.Asp400Ala)
|
|
|
|
NM_001035.3(RYR2):c.1199A>G (p.Asp400Gly)
|
|
|
|
NM_001035.3(RYR2):c.11G>T (p.Gly4Val)
|
rs866878858
|
|
|
NM_001035.3(RYR2):c.12000G>A (p.Val4000=)
|
|
|
|
NM_001035.3(RYR2):c.12001G>A (p.Asp4001Asn)
|
rs1553322501
|
|
|
NM_001035.3(RYR2):c.12001G>C (p.Asp4001His)
|
rs1553322501
|
|
|
NM_001035.3(RYR2):c.12006G>A (p.Met4002Ile)
|
rs1695315646
|
|
|
NM_001035.3(RYR2):c.12014A>G (p.Glu4005Gly)
|
rs1695315832
|
|
|
NM_001035.3(RYR2):c.12022AAC[1] (p.Asn4009del)
|
rs1573931958
|
|
|
NM_001035.3(RYR2):c.12026A>G (p.Asn4009Ser)
|
rs1396528117
|
|
|
NM_001035.3(RYR2):c.12031G>A (p.Glu4011Lys)
|
rs771155451
|
|
|
NM_001035.3(RYR2):c.12042C>G (p.Leu4014=)
|
|
|
|
NM_001035.3(RYR2):c.12045A>G (p.Lys4015=)
|
|
|
|
NM_001035.3(RYR2):c.12080C>T (p.Thr4027Met)
|
|
|
|
NM_001035.3(RYR2):c.12081G>A (p.Thr4027=)
|
rs1695321287
|
|
|
NM_001035.3(RYR2):c.12093T>G (p.Thr4031=)
|
|
|
|
NM_001035.3(RYR2):c.12106G>A (p.Asp4036Asn)
|
rs748216455
|
|
|
NM_001035.3(RYR2):c.12112G>A (p.Asp4038Asn)
|
|
|
|
NM_001035.3(RYR2):c.12116G>T (p.Gly4039Val)
|
rs749706996
|
|
|
NM_001035.3(RYR2):c.12117C>G (p.Gly4039=)
|
|
|
|
NM_001035.3(RYR2):c.12122G>T (p.Gly4041Val)
|
|
|
|
NM_001035.3(RYR2):c.12138G>A (p.Arg4046=)
|
rs2149352520
|
|
|
NM_001035.3(RYR2):c.12139G>C (p.Asp4047His)
|
rs727505103
|
|
|
NM_001035.3(RYR2):c.12139G>T (p.Asp4047Tyr)
|
rs727505103
|
|
|
NM_001035.3(RYR2):c.12141C>T (p.Asp4047=)
|
rs1232796204
|
|
|
NM_001035.3(RYR2):c.12142T>G (p.Phe4048Val)
|
|
|
|
NM_001035.3(RYR2):c.12179A>G (p.Gln4060Arg)
|
|
|
|
NM_001035.3(RYR2):c.1218G>C (p.Ser406=)
|
rs147389346
|
|
|
NM_001035.3(RYR2):c.1219A>C (p.Arg407=)
|
rs1382123934
|
|
|
NM_001035.3(RYR2):c.12209C>T (p.Ala4070Val)
|
|
|
|
NM_001035.3(RYR2):c.12214A>C (p.Thr4072Pro)
|
rs1558404448
|
|
|
NM_001035.3(RYR2):c.12216G>A (p.Thr4072=)
|
|
|
|
NM_001035.3(RYR2):c.12225T>C (p.Asn4075=)
|
rs2149352904
|
|
|
NM_001035.3(RYR2):c.12231C>A (p.Thr4077=)
|
rs1325431679
|
|
|
NM_001035.3(RYR2):c.12235G>A (p.Asp4079Asn)
|
rs868071612
|
|
|
NM_001035.3(RYR2):c.12239A>G (p.Tyr4080Cys)
|
rs794728781
|
|
|
NM_001035.3(RYR2):c.12240C>T (p.Tyr4080=)
|
rs1335612184
|
|
|
NM_001035.3(RYR2):c.12243A>G (p.Glu4081=)
|
rs766202701
|
|
|
NM_001035.3(RYR2):c.12244G>C (p.Glu4082Gln)
|
rs774241742
|
|
|
NM_001035.3(RYR2):c.12245A>C (p.Glu4082Ala)
|
rs1057524762
|
|
|
NM_001035.3(RYR2):c.12249C>A (p.Phe4083Leu)
|
rs371599450
|
|
|
NM_001035.3(RYR2):c.12249C>T (p.Phe4083=)
|
rs371599450
|
|
|
NM_001035.3(RYR2):c.12250G>A (p.Val4084Ile)
|
rs1695339297
|
|
|
NM_001035.3(RYR2):c.12258C>T (p.Arg4086=)
|
rs2149353086
|
|
|
NM_001035.3(RYR2):c.12264C>T (p.His4088=)
|
rs1558404698
|
|
|
NM_001035.3(RYR2):c.12265G>A (p.Glu4089Lys)
|
|
|
|
NM_001035.3(RYR2):c.12268C>G (p.Pro4090Ala)
|
|
|
|
NM_001035.3(RYR2):c.12268C>T (p.Pro4090Ser)
|
rs794728782
|
|
|
NM_001035.3(RYR2):c.12269C>T (p.Pro4090Leu)
|
rs2149353116
|
|
|
NM_001035.3(RYR2):c.12271_12272delinsAG (p.Ala4091Arg)
|
rs794728837
|
|
|
NM_001035.3(RYR2):c.12272C>G (p.Ala4091Gly)
|
|
|
|
NM_001035.3(RYR2):c.12272C>T (p.Ala4091Val)
|
rs794728783
|
|
|
NM_001035.3(RYR2):c.12273G>C (p.Ala4091=)
|
rs966083978
|
|
|
NM_001035.3(RYR2):c.12279C>G (p.Asp4093Glu)
|
|
|
|
NM_001035.3(RYR2):c.12282C>A (p.Ile4094=)
|
|
|
|
NM_001035.3(RYR2):c.12290A>G (p.Asn4097Ser)
|
rs794728784
|
|
|
NM_001035.3(RYR2):c.1229A>G (p.His410Arg)
|
|
|
|
NM_001035.3(RYR2):c.12301C>T (p.Leu4101Phe)
|
rs794728785
|
|
|
NM_001035.3(RYR2):c.12312C>G (p.Asn4104Lys)
|
rs121918599
|
|
|
NM_001035.3(RYR2):c.12313C>T (p.Leu4105Phe)
|
|
|
|
NM_001035.3(RYR2):c.1231G>A (p.Glu411Lys)
|
rs866407992
|
|
|
NM_001035.3(RYR2):c.12320A>C (p.Glu4107Ala)
|
rs2149353356
|
|
|
NM_001035.3(RYR2):c.12320A>T (p.Glu4107Val)
|
|
|
|
NM_001035.3(RYR2):c.12322C>T (p.His4108Tyr)
|
|
|
|
NM_001035.3(RYR2):c.12325A>C (p.Met4109Leu)
|
rs730880196
|
|
|
NM_001035.3(RYR2):c.12325A>G (p.Met4109Val)
|
rs730880196
|
|
|
NM_001035.3(RYR2):c.12326T>C (p.Met4109Thr)
|
rs1373714510
|
|
|
NM_001035.3(RYR2):c.12327G>T (p.Met4109Ile)
|
|
|
|
NM_001035.3(RYR2):c.12333C>G (p.Asn4111Lys)
|
|
|
|
NM_001035.3(RYR2):c.12340C>G (p.Arg4114Gly)
|
|
|
|
NM_001035.3(RYR2):c.12343C>T (p.Leu4115Phe)
|
rs1695349832
|
|
|
NM_001035.3(RYR2):c.12344T>G (p.Leu4115Arg)
|
|
|
|
NM_001035.3(RYR2):c.12348G>T (p.Gln4116His)
|
rs2149353492
|
|
|
NM_001035.3(RYR2):c.12354T>C (p.Phe4118=)
|
|
|
|
NM_001035.3(RYR2):c.12357G>A (p.Leu4119=)
|
rs2149353502
|
|
|
NM_001035.3(RYR2):c.12365_12367del (p.Ala4122del)
|
rs1695350400
|
|
|
NM_001035.3(RYR2):c.12369G>T (p.Glu4123Asp)
|
rs759484925
|
|
|
NM_001035.3(RYR2):c.1236A>G (p.Glu412=)
|
rs2150166360
|
|
|
NM_001035.3(RYR2):c.12372C>A (p.Ser4124Arg)
|
rs771994461
|
|
|
NM_001035.3(RYR2):c.12372C>T (p.Ser4124=)
|
rs771994461
|
|
|
NM_001035.3(RYR2):c.12375C>G (p.Val4125=)
|
rs1434635546
|
|
|
NM_001035.3(RYR2):c.12376C>T (p.Leu4126=)
|
|
|
|
NM_001035.3(RYR2):c.12385T>C (p.Phe4129Leu)
|
rs1573934226
|
|
|
NM_001035.3(RYR2):c.12385T>G (p.Phe4129Val)
|
rs1573934226
|
|
|
NM_001035.3(RYR2):c.12386del (p.Phe4129fs)
|
|
|
|
NM_001035.3(RYR2):c.12401G>C (p.Gly4134Ala)
|
rs1573934290
|
|
|
NM_001035.3(RYR2):c.12401G>T (p.Gly4134Val)
|
rs1573934290
|
|
|
NM_001035.3(RYR2):c.12402C>A (p.Gly4134=)
|
rs2149353678
|
|
|
NM_001035.3(RYR2):c.12404G>T (p.Arg4135Leu)
|
rs764202302
|
|
|
NM_001035.3(RYR2):c.12408C>T (p.Ile4136=)
|
rs1294331175
|
|
|
NM_001035.3(RYR2):c.12415A>G (p.Met4139Val)
|
rs1199657338
|
|
|
NM_001035.3(RYR2):c.1241G>T (p.Arg414Leu)
|
rs371121679
|
|
|
NM_001035.3(RYR2):c.12423C>T (p.Ser4141=)
|
|
|
|
NM_001035.3(RYR2):c.12424G>A (p.Ala4142Thr)
|
rs761834154
|
|
|
NM_001035.3(RYR2):c.1242C>T (p.Arg414=)
|
|
|
|
NM_001035.3(RYR2):c.12430C>T (p.Arg4144Cys)
|
rs1298823746
|
|
|
NM_001035.3(RYR2):c.1243A>G (p.Thr415Ala)
|
rs545357663
|
|
|
NM_001035.3(RYR2):c.12446A>G (p.Tyr4149Cys)
|
rs1234449785
|
|
|
NM_001035.3(RYR2):c.12447T>C (p.Tyr4149=)
|
rs2149353878
|
|
|
NM_001035.3(RYR2):c.1244C>A (p.Thr415Lys)
|
rs1288202574
|
|
|
NM_001035.3(RYR2):c.1244C>T (p.Thr415Ile)
|
|
|
|
NM_001035.3(RYR2):c.12455T>A (p.Ile4152Asn)
|
rs1695358851
|
|
|
NM_001035.3(RYR2):c.12458G>C (p.Ser4153Thr)
|
rs999437630
|
|
|
NM_001035.3(RYR2):c.12458G>T (p.Ser4153Ile)
|
rs999437630
|
|
|
NM_001035.3(RYR2):c.12463T>A (p.Ser4155Thr)
|
rs1060500135
|
|
|
NM_001035.3(RYR2):c.12464C>A (p.Ser4155Tyr)
|
rs2149353940
|
|
|
NM_001035.3(RYR2):c.12468C>T (p.Ser4156=)
|
|
|
|
NM_001035.3(RYR2):c.12470G>A (p.Arg4157Gln)
|
rs794728786
|
|
|
NM_001035.3(RYR2):c.12475C>A (p.Gln4159Lys)
|
|
|
|
NM_001035.3(RYR2):c.12477G>T (p.Gln4159His)
|
rs1558405653
|
|
|
NM_001035.3(RYR2):c.12487C>G (p.Pro4163Ala)
|
|
|
|
NM_001035.3(RYR2):c.12494T>C (p.Val4165Ala)
|
|
|
|
NM_001035.3(RYR2):c.12499G>A (p.Glu4167Lys)
|
rs1695363148
|
|
|
NM_001035.3(RYR2):c.1249C>T (p.Arg417Ter)
|
rs564822776
|
|
|
NM_001035.3(RYR2):c.12510_12513dup (p.Phe4172fs)
|
rs1553322884
|
|
|
NM_001035.3(RYR2):c.12511C>G (p.Gln4171Glu)
|
|
|
|
NM_001035.3(RYR2):c.12519A>G (p.Ile4173Met)
|
rs1553322892
|
|
|
NM_001035.3(RYR2):c.12521T>A (p.Phe4174Tyr)
|
|
|
|
NM_001035.3(RYR2):c.12521T>G (p.Phe4174Cys)
|
|
|
|
NM_001035.3(RYR2):c.12525C>A (p.Asp4175Glu)
|
rs1347472531
|
|
|
NM_001035.3(RYR2):c.12525C>T (p.Asp4175=)
|
rs1347472531
|
|
|
NM_001035.3(RYR2):c.12530T>A (p.Val4177Asp)
|
rs1553322906
|
|
|
NM_001035.3(RYR2):c.12530T>C (p.Val4177Ala)
|
rs1553322906
|
|
|
NM_001035.3(RYR2):c.12532A>T (p.Asn4178Tyr)
|
rs1481201233
|
|
|
NM_001035.3(RYR2):c.12533A>G (p.Asn4178Ser)
|
rs794728787
|
|
|
NM_001035.3(RYR2):c.12534C>T (p.Asn4178=)
|
|
|
|
NM_001035.3(RYR2):c.12535G>A (p.Glu4179Lys)
|
rs867488053
|
|
|
NM_001035.3(RYR2):c.12539G>T (p.Gly4180Val)
|
rs1558405816
|
|
|
NM_001035.3(RYR2):c.12545A>C (p.Glu4182Ala)
|
rs794728788
|
|
|
NM_001035.3(RYR2):c.12549A>C (p.Lys4183Asn)
|
rs760519665
|
|
|
NM_001035.3(RYR2):c.12550_12552del (p.Glu4184del)
|
rs1558405887
|
|
|
NM_001035.3(RYR2):c.12568G>A (p.Val4190Met)
|
rs1308975705
|
|
|
NM_001035.3(RYR2):c.12568G>C (p.Val4190Leu)
|
rs1308975705
|
|
|
NM_001035.3(RYR2):c.12569T>A (p.Val4190Glu)
|
rs1064794753
|
|
|
NM_001035.3(RYR2):c.12571A>G (p.Asn4191Asp)
|
|
|
|
NM_001035.3(RYR2):c.12574T>G (p.Phe4192Val)
|
|
|
|
NM_001035.3(RYR2):c.12578G>A (p.Cys4193Tyr)
|
rs1573935244
|
|
|
NM_001035.3(RYR2):c.12580G>A (p.Glu4194Lys)
|
|
|
|
NM_001035.3(RYR2):c.12582G>A (p.Glu4194=)
|
rs2149354363
|
|
|
NM_001035.3(RYR2):c.12587C>T (p.Thr4196Ile)
|
rs2149354389
|
|
|
NM_001035.3(RYR2):c.12588C>T (p.Thr4196=)
|
|
|
|
NM_001035.3(RYR2):c.12589A>C (p.Ile4197Leu)
|
rs765238394
|
|
|
NM_001035.3(RYR2):c.12589A>G (p.Ile4197Val)
|
rs765238394
|
|
|
NM_001035.3(RYR2):c.1258C>A (p.Arg420=)
|
rs190140598
|
|
|
NM_001035.3(RYR2):c.1259G>A (p.Arg420Gln)
|
rs794728721
|
|
|
NM_001035.3(RYR2):c.12602A>G (p.Gln4201Arg)
|
rs121918605
|
|
|
NM_001035.3(RYR2):c.12603G>T (p.Gln4201His)
|
rs2149354441
|
|
|
NM_001035.3(RYR2):c.12606G>A (p.Leu4202=)
|
rs2149354452
|
|
|
NM_001035.3(RYR2):c.12608C>T (p.Ala4203Val)
|
rs794728792
|
|
|
NM_001035.3(RYR2):c.12609G>A (p.Ala4203=)
|
rs372943408
|
|
|
NM_001035.3(RYR2):c.12609G>T (p.Ala4203=)
|
rs372943408
|
|
|
NM_001035.3(RYR2):c.12612T>C (p.Ala4204=)
|
|
|
|
NM_001035.3(RYR2):c.12614A>G (p.Gln4205Arg)
|
|
|
|
NM_001035.3(RYR2):c.12620C>T (p.Ser4207Leu)
|
rs2149354495
|
|
|
NM_001035.3(RYR2):c.12636C>T (p.Asn4212=)
|
|
|
|
NM_001035.3(RYR2):c.12637G>A (p.Glu4213Lys)
|
rs1695373966
|
|
|
NM_001035.3(RYR2):c.1263C>T (p.Ser421=)
|
|
|
|
NM_001035.3(RYR2):c.12647C>A (p.Ala4216Glu)
|
|
|
|
NM_001035.3(RYR2):c.12647C>T (p.Ala4216Val)
|
|
|
|
NM_001035.3(RYR2):c.1264A>G (p.Thr422Ala)
|
rs1350054663
|
|
|
NM_001035.3(RYR2):c.12655G>A (p.Glu4219Lys)
|
rs1417926762
|
|
|
NM_001035.3(RYR2):c.12660A>G (p.Glu4220=)
|
rs1323430299
|
|
|
NM_001035.3(RYR2):c.12666G>A (p.Glu4222=)
|
rs1573935771
|
|
|
NM_001035.3(RYR2):c.12667A>G (p.Lys4223Glu)
|
|
|
|
NM_001035.3(RYR2):c.12667_12669del (p.Lys4223del)
|
rs794728838
|
|
|
NM_001035.3(RYR2):c.1266A>G (p.Thr422=)
|
rs928759971
|
|
|
NM_001035.3(RYR2):c.12678G>A (p.Pro4226=)
|
|
|
|
NM_001035.3(RYR2):c.12678G>T (p.Pro4226=)
|
rs768348987
|
|
|
NM_001035.3(RYR2):c.12679G>A (p.Glu4227Lys)
|
rs2149354765
|
|
|
NM_001035.3(RYR2):c.12682G>A (p.Glu4228Lys)
|
|
|
|
NM_001035.3(RYR2):c.12692C>A (p.Pro4231Gln)
|
rs1321340277
|
|
|
NM_001035.3(RYR2):c.12692dup (p.Arg4232fs)
|
|
|
|
NM_001035.3(RYR2):c.12697A>G (p.Met4233Val)
|
rs2149354852
|
|
|
NM_001035.3(RYR2):c.12708C>T (p.Phe4236=)
|
rs2149354917
|
|
|
NM_001035.3(RYR2):c.12711C>T (p.Ser4237=)
|
rs1412516019
|
|
|
NM_001035.3(RYR2):c.12712A>G (p.Ile4238Val)
|
rs1695382742
|
|
|
NM_001035.3(RYR2):c.12717G>C (p.Leu4239=)
|
|
|
|
NM_001035.3(RYR2):c.12718A>G (p.Thr4240Ala)
|
|
|
|
NM_001035.3(RYR2):c.12720G>A (p.Thr4240=)
|
rs774851947
|
|
|
NM_001035.3(RYR2):c.12730G>T (p.Ala4244Ser)
|
|
|
|
NM_001035.3(RYR2):c.12735G>A (p.Leu4245=)
|
|
|
|
NM_001035.3(RYR2):c.12741G>A (p.Ala4247=)
|
rs753089069
|
|
|
NM_001035.3(RYR2):c.12745A>T (p.Arg4249Trp)
|
rs1695385129
|
|
|
NM_001035.3(RYR2):c.12750C>T (p.Tyr4250=)
|
rs2149355086
|
|
|
NM_001035.3(RYR2):c.12753T>C (p.Asn4251=)
|
|
|
|
NM_001035.3(RYR2):c.12759G>A (p.Leu4253=)
|
rs2149355131
|
|
|
NM_001035.3(RYR2):c.12773T>C (p.Met4258Thr)
|
|
|
|
NM_001035.3(RYR2):c.12775C>T (p.Leu4259Phe)
|
|
|
|
NM_001035.3(RYR2):c.12777C>T (p.Leu4259=)
|
|
|
|
NM_001035.3(RYR2):c.12780T>C (p.Ser4260=)
|
|
|
|
NM_001035.3(RYR2):c.12785A>G (p.Lys4262Arg)
|
|
|
|
NM_001035.3(RYR2):c.12791T>G (p.Leu4264Arg)
|
rs2149355228
|
|
|
NM_001035.3(RYR2):c.12792G>A (p.Leu4264=)
|
rs749454470
|
|
|
NM_001035.3(RYR2):c.12795G>A (p.Lys4265=)
|
rs1695389411
|
|
|
NM_001035.3(RYR2):c.12800A>G (p.Gln4267Arg)
|
|
|
|
NM_001035.3(RYR2):c.12801G>A (p.Gln4267=)
|
|
|
|
NM_001035.3(RYR2):c.1280A>G (p.Asn427Ser)
|
rs753007912
|
|
|
NM_001035.3(RYR2):c.12811G>A (p.Val4271Ile)
|
|
|
|
NM_001035.3(RYR2):c.1281T>C (p.Asn427=)
|
rs375691875
|
|
|
NM_001035.3(RYR2):c.12843G>T (p.Thr4281=)
|
|
|
|
NM_001035.3(RYR2):c.12845C>T (p.Ala4282Val)
|
|
|
|
NM_001035.3(RYR2):c.12846C>G (p.Ala4282=)
|
|
|
|
NM_001035.3(RYR2):c.12857C>G (p.Ser4286Cys)
|
rs2149355491
|
|
|
NM_001035.3(RYR2):c.12861C>G (p.Tyr4287Ter)
|
rs570414987
|
|
|
NM_001035.3(RYR2):c.12861C>T (p.Tyr4287=)
|
|
|
|
NM_001035.3(RYR2):c.12874A>G (p.Met4292Val)
|
|
|
|
NM_001035.3(RYR2):c.12880C>T (p.Leu4294Phe)
|
|
|
|
NM_001035.3(RYR2):c.12883T>C (p.Leu4295=)
|
|
|
|
NM_001035.3(RYR2):c.12892G>A (p.Val4298Met)
|
rs745927659
|
|
|
NM_001035.3(RYR2):c.12893T>C (p.Val4298Ala)
|
rs984942880
|
|
|
NM_001035.3(RYR2):c.12898_12909del (p.Ser4300_Arg4303del)
|
|
|
|
NM_001035.3(RYR2):c.12901G>A (p.Val4301Ile)
|
rs772007722
|
|
|
NM_001035.3(RYR2):c.1292+10C>A
|
|
|
|
NM_001035.3(RYR2):c.1292+15G>A
|
|
|
|
NM_001035.3(RYR2):c.1292+16T>C
|
rs2150166881
|
|
|
NM_001035.3(RYR2):c.1292+3A>G
|
rs1572361996
|
|
|
NM_001035.3(RYR2):c.1292+4C>A
|
|
|
|
NM_001035.3(RYR2):c.1292+7T>G
|
rs1572362013
|
|
|
NM_001035.3(RYR2):c.1293-13T>C
|
|
|
|
NM_001035.3(RYR2):c.1293-14A>T
|
rs752527636
|
|
|
NM_001035.3(RYR2):c.1293-18G>A
|
rs1572400333
|
|
|
NM_001035.3(RYR2):c.1293-6T>C
|
rs756239888
|
|
|
NM_001035.3(RYR2):c.12931A>C (p.Ser4311Arg)
|
rs2149355805
|
|
|
NM_001035.3(RYR2):c.12934C>T (p.Leu4312=)
|
|
|
|
NM_001035.3(RYR2):c.12936G>A (p.Leu4312=)
|
rs2149355823
|
|
|
NM_001035.3(RYR2):c.12939G>C (p.Leu4313=)
|
rs893697261
|
|
|
NM_001035.3(RYR2):c.1293G>A (p.Arg431=)
|
rs1658550441
|
|
|
NM_001035.3(RYR2):c.12946_12947del (p.Gly4316fs)
|
rs2149355859
|
|
|
NM_001035.3(RYR2):c.12947G>T (p.Gly4316Val)
|
rs1471117005
|
|
|
NM_001035.3(RYR2):c.12950G>T (p.Ser4317Ile)
|
|
|
|
NM_001035.3(RYR2):c.12960A>T (p.Glu4320Asp)
|
|
|
|
NM_001035.3(RYR2):c.12962G>T (p.Gly4321Val)
|
|
|
|
NM_001035.3(RYR2):c.12966T>A (p.Ala4322=)
|
|
|
|
NM_001035.3(RYR2):c.1296C>T (p.Gly432=)
|
rs184176405
|
|
|
NM_001035.3(RYR2):c.12972G>T (p.Lys4324Asn)
|
|
|
|
NM_001035.3(RYR2):c.12980T>A (p.Val4327Asp)
|
|
|
|
NM_001035.3(RYR2):c.12980T>C (p.Val4327Ala)
|
|
|
|
NM_001035.3(RYR2):c.1298T>C (p.Leu433Pro)
|
rs121918602
|
|
|
NM_001035.3(RYR2):c.12990G>T (p.Leu4330=)
|
rs1558407591
|
|
|
NM_001035.3(RYR2):c.12997A>G (p.Asn4333Asp)
|
rs371680410
|
|
|
NM_001035.3(RYR2):c.129C>T (p.Gly43=)
|
rs749566745
|
|
|
NM_001035.3(RYR2):c.13002G>A (p.Met4334Ile)
|
|
|
|
NM_001035.3(RYR2):c.13009C>A (p.Pro4337Thr)
|
|
|
|
NM_001035.3(RYR2):c.1300G>A (p.Asp434Asn)
|
rs1658551806
|
|
|
NM_001035.3(RYR2):c.13012A>G (p.Thr4338Ala)
|
|
|
|
NM_001035.3(RYR2):c.13012A>T (p.Thr4338Ser)
|
|
|
|
NM_001035.3(RYR2):c.13018G>A (p.Asp4340Asn)
|
|
|
|
NM_001035.3(RYR2):c.13023G>A (p.Glu4341=)
|
rs2149356131
|
|
|
NM_001035.3(RYR2):c.13031G>A (p.Gly4344Glu)
|
|
|
|
NM_001035.3(RYR2):c.13044G>T (p.Glu4348Asp)
|
rs559197657
|
|
|
NM_001035.3(RYR2):c.13047A>G (p.Gly4349=)
|
rs2149356229
|
|
|
NM_001035.3(RYR2):c.13049A>G (p.Glu4350Gly)
|
|
|
|
NM_001035.3(RYR2):c.13057C>G (p.Pro4353Ala)
|
|
|
|
NM_001035.3(RYR2):c.13065A>G (p.Glu4355=)
|
rs1695412040
|
|
|
NM_001035.3(RYR2):c.13067C>T (p.Ala4356Val)
|
rs981875785
|
|
|
NM_001035.3(RYR2):c.13072C>T (p.Leu4358=)
|
|
|
|
NM_001035.3(RYR2):c.13077C>T (p.Pro4359=)
|
rs1695413897
|
|
|
NM_001035.3(RYR2):c.13078T>G (p.Ser4360Ala)
|
rs1420181587
|
|
|
NM_001035.3(RYR2):c.13080C>G (p.Ser4360=)
|
rs369964660
|
|
|
NM_001035.3(RYR2):c.13081G>C (p.Glu4361Gln)
|
|
|
|
NM_001035.3(RYR2):c.13092C>T (p.Thr4364=)
|
|
|
|
NM_001035.3(RYR2):c.13098A>G (p.Leu4366=)
|
rs2149356435
|
|
|
NM_001035.3(RYR2):c.1309A>G (p.Ser437Gly)
|
rs1658552670
|
|
|
NM_001035.3(RYR2):c.13100A>G (p.Lys4367Arg)
|
rs2149356442
|
|
|
NM_001035.3(RYR2):c.13101G>A (p.Lys4367=)
|
|
|
|
NM_001035.3(RYR2):c.13114G>A (p.Glu4372Lys)
|
rs1294591565
|
|
|
NM_001035.3(RYR2):c.13120G>A (p.Asp4374Asn)
|
|
|
|
NM_001035.3(RYR2):c.13130C>T (p.Ser4377Leu)
|
rs869025514
|
|
|
NM_001035.3(RYR2):c.13131G>A (p.Ser4377=)
|
|
|
|
NM_001035.3(RYR2):c.13134C>T (p.Asp4378=)
|
|
|
|
NM_001035.3(RYR2):c.1314G>A (p.Lys438=)
|
rs2150216878
|
|
|
NM_001035.3(RYR2):c.13156A>C (p.Arg4386=)
|
|
|
|
NM_001035.3(RYR2):c.13163G>A (p.Gly4388Glu)
|
rs1695420157
|
|
|
NM_001035.3(RYR2):c.13167A>G (p.Gly4389=)
|
rs878854152
|
|
|
NM_001035.3(RYR2):c.13169A>G (p.Gln4390Arg)
|
rs763987225
|
|
|
NM_001035.3(RYR2):c.1316A>C (p.Lys439Thr)
|
rs1658553532
|
|
|
NM_001035.3(RYR2):c.13173C>T (p.Tyr4391=)
|
|
|
|
NM_001035.3(RYR2):c.13184C>T (p.Pro4395Leu)
|
rs1695422438
|
|
|
NM_001035.3(RYR2):c.13187A>G (p.His4396Arg)
|
rs1060500161
|
|
|
NM_001035.3(RYR2):c.13202G>A (p.Gly4401Glu)
|
|
|
|
NM_001035.3(RYR2):c.13209T>C (p.Ser4403=)
|
|
|
|
NM_001035.3(RYR2):c.1320G>C (p.Ala440=)
|
rs887478410
|
|
|
NM_001035.3(RYR2):c.13218G>A (p.Met4406Ile)
|
|
|
|
NM_001035.3(RYR2):c.13224C>G (p.Asn4408Lys)
|
|
|
|
NM_001035.3(RYR2):c.13229T>C (p.Val4410Ala)
|
rs748604898
|
|
|
NM_001035.3(RYR2):c.13233C>T (p.Pro4411=)
|
rs770195281
|
|
|
NM_001035.3(RYR2):c.13234A>C (p.Met4412Leu)
|
rs2149356919
|
|
|
NM_001035.3(RYR2):c.13234A>G (p.Met4412Val)
|
rs2149356919
|
|
|
NM_001035.3(RYR2):c.13239T>C (p.Pro4413=)
|
|
|
|
NM_001035.3(RYR2):c.1323G>A (p.Lys441=)
|
|
|
|
NM_001035.3(RYR2):c.1324G>C (p.Ala442Pro)
|
rs747344666
|
|
|
NM_001035.3(RYR2):c.13260+10C>T
|
rs1695431070
|
|
|
NM_001035.3(RYR2):c.13260+14_13260+15delinsGG
|
|
|
|
NM_001035.3(RYR2):c.13260+18C>T
|
|
|
|
NM_001035.3(RYR2):c.13260+19dup
|
rs2149357145
|
|
|
NM_001035.3(RYR2):c.13260+3_13260+6dup
|
rs1553323690
|
|
|
NM_001035.3(RYR2):c.13261-10C>T
|
|
|
|
NM_001035.3(RYR2):c.13261-6T>C
|
|
|
|
NM_001035.3(RYR2):c.13264C>T (p.Gln4422Ter)
|
|
|
|
NM_001035.3(RYR2):c.13269G>A (p.Lys4423=)
|
rs1695515888
|
|
|
NM_001035.3(RYR2):c.1326T>G (p.Ala442=)
|
|
|
|
NM_001035.3(RYR2):c.13273A>G (p.Lys4425Glu)
|
rs2149359920
|
|
|
NM_001035.3(RYR2):c.13276GAA[2] (p.Glu4428del)
|
rs869025516
|
|
|
NM_001035.3(RYR2):c.13279G>A (p.Glu4427Lys)
|
rs1695516581
|
|
|
NM_001035.3(RYR2):c.13280A>T (p.Glu4427Val)
|
|
|
|
NM_001035.3(RYR2):c.13288G>A (p.Glu4430Lys)
|
rs2149359974
|
|
|
NM_001035.3(RYR2):c.13312G>C (p.Glu4438Gln)
|
|
|
|
NM_001035.3(RYR2):c.13315C>T (p.Pro4439Ser)
|
|
|
|
NM_001035.3(RYR2):c.13325C>T (p.Ala4442Val)
|
rs1553324230
|
|
|
NM_001035.3(RYR2):c.13328+14G>T
|
|
|
|
NM_001035.3(RYR2):c.13328+15C>A
|
|
|
|
NM_001035.3(RYR2):c.13328+15C>T
|
|
|
|
NM_001035.3(RYR2):c.13328+4T>C
|
rs1356215434
|
|
|
NM_001035.3(RYR2):c.13329-10G>T
|
|
|
|
NM_001035.3(RYR2):c.13329-14del
|
|
|
|
NM_001035.3(RYR2):c.13329-19T>C
|
|
|
|
NM_001035.3(RYR2):c.13329-20T>G
|
|
|
|
NM_001035.3(RYR2):c.13329-6T>C
|
|
|
|
NM_001035.3(RYR2):c.13337A>G (p.Asp4446Gly)
|
rs2149367007
|
|
|
NM_001035.3(RYR2):c.13347AGA[4] (p.Glu4450_Glu4451dup)
|
rs2149367035
|
|
|
NM_001035.3(RYR2):c.1334T>C (p.Val445Ala)
|
|
|
|
NM_001035.3(RYR2):c.13350A>G (p.Glu4450=)
|
rs1657867796
|
|
|
NM_001035.3(RYR2):c.13357G>C (p.Ala4453Pro)
|
rs1573952018
|
|
|
NM_001035.3(RYR2):c.13358_13366del (p.Ala4453_Glu4455del)
|
|
|
|
NM_001035.3(RYR2):c.13361A>C (p.Lys4454Thr)
|
rs1485986182
|
|
|
NM_001035.3(RYR2):c.13368C>T (p.Asp4456=)
|
rs1573952064
|
|
|
NM_001035.3(RYR2):c.1336G>A (p.Asp446Asn)
|
rs748867973
|
|
|
NM_001035.3(RYR2):c.1336G>T (p.Asp446Tyr)
|
|
|
|
NM_001035.3(RYR2):c.13371G>T (p.Lys4457Asn)
|
rs769311004
|
|
|
NM_001035.3(RYR2):c.13372G>C (p.Gly4458Arg)
|
|
|
|
NM_001035.3(RYR2):c.13376A>T (p.Lys4459Ile)
|
|
|
|
NM_001035.3(RYR2):c.13380A>G (p.Gln4460=)
|
|
|
|
NM_001035.3(RYR2):c.13400C>T (p.Thr4467Ile)
|
rs933184477
|
|
|
NM_001035.3(RYR2):c.13406G>A (p.Arg4469Lys)
|
rs759882217
|
|
|
NM_001035.3(RYR2):c.13412G>C (p.Gly4471Ala)
|
rs1553325274
|
|
|
NM_001035.3(RYR2):c.13417C>A (p.Pro4473Thr)
|
rs571824543
|
|
|
NM_001035.3(RYR2):c.13424T>A (p.Val4475Glu)
|
rs1347737490
|
|
|
NM_001035.3(RYR2):c.13426C>T (p.Pro4476Ser)
|
rs1277251368
|
|
|
NM_001035.3(RYR2):c.13428A>C (p.Pro4476=)
|
rs1057522551
|
|
|
NM_001035.3(RYR2):c.13428A>G (p.Pro4476=)
|
|
|
|
NM_001035.3(RYR2):c.1342C>G (p.Pro448Ala)
|
rs369933531
|
|
|
NM_001035.3(RYR2):c.13448A>C (p.Lys4483Thr)
|
|
|
|
NM_001035.3(RYR2):c.1344T>C (p.Pro448=)
|
rs772076225
|
|
|
NM_001035.3(RYR2):c.13450_13453dup (p.Ile4485fs)
|
|
|
|
NM_001035.3(RYR2):c.13458A>T (p.Ala4486=)
|
rs1657881375
|
|
|
NM_001035.3(RYR2):c.13465C>A (p.Gln4489Lys)
|
rs1657881640
|
|
|
NM_001035.3(RYR2):c.13475T>C (p.Leu4492Pro)
|
|
|
|
NM_001035.3(RYR2):c.13476+6A>T
|
rs1457866950
|
|
|
NM_001035.3(RYR2):c.13476+8_13476+11dup
|
rs864309562
|
|
|
NM_001035.3(RYR2):c.13476+9T>C
|
|
|
|
NM_001035.3(RYR2):c.13489C>T (p.Arg4497Cys)
|
rs121918600
|
|
|
NM_001035.3(RYR2):c.13490G>A (p.Arg4497His)
|
rs867681818
|
|
|
NM_001035.3(RYR2):c.13494C>T (p.Asn4498=)
|
|
|
|
NM_001035.3(RYR2):c.13496_13501del (p.Phe4499_Asn4501delinsTyr)
|
rs2149379033
|
|
|
NM_001035.3(RYR2):c.13498T>C (p.Tyr4500His)
|
rs2149379050
|
|
|
NM_001035.3(RYR2):c.13499A>C (p.Tyr4500Ser)
|
rs1658370845
|
|
|
NM_001035.3(RYR2):c.13510A>C (p.Met4504Leu)
|
|
|
|
NM_001035.3(RYR2):c.13520T>C (p.Leu4507Ser)
|
rs794728798
|
|
|
NM_001035.3(RYR2):c.13528G>A (p.Ala4510Thr)
|
rs397516510
|
|
|
NM_001035.3(RYR2):c.13528G>C (p.Ala4510Pro)
|
rs397516510
|
|
|
NM_001035.3(RYR2):c.13528G>T (p.Ala4510Ser)
|
rs397516510
|
|
|
NM_001035.3(RYR2):c.13529C>T (p.Ala4510Val)
|
rs1658373672
|
|
|
NM_001035.3(RYR2):c.13530A>C (p.Ala4510=)
|
|
|
|
NM_001035.3(RYR2):c.13530A>G (p.Ala4510=)
|
rs755775674
|
|
|
NM_001035.3(RYR2):c.13541A>G (p.Asn4514Ser)
|
rs397516511
|
|
|
NM_001035.3(RYR2):c.13554C>G (p.Leu4518=)
|
|
|
|
NM_001035.3(RYR2):c.13560T>C (p.Tyr4520=)
|
rs963715446
|
|
|
NM_001035.3(RYR2):c.13563+17G>C
|
rs2149379306
|
|
|
NM_001035.3(RYR2):c.13563+18T>C
|
|
|
|
NM_001035.3(RYR2):c.13564-17T>C
|
|
|
|
NM_001035.3(RYR2):c.13564-18T>C
|
|
|
|
NM_001035.3(RYR2):c.13564-19T>C
|
|
|
|
NM_001035.3(RYR2):c.13569C>T (p.Ser4523=)
|
|
|
|
NM_001035.3(RYR2):c.13571C>T (p.Thr4524Ile)
|
|
|
|
NM_001035.3(RYR2):c.13573TCT[1] (p.Ser4526del)
|
rs749495172
|
|
|
NM_001035.3(RYR2):c.13575T>C (p.Ser4525=)
|
|
|
|
NM_001035.3(RYR2):c.1357A>T (p.Ser453Cys)
|
rs1259104446
|
|
|
NM_001035.3(RYR2):c.13590A>T (p.Gly4530=)
|
|
|
|
NM_001035.3(RYR2):c.13597C>T (p.Leu4533Phe)
|
|
|
|
NM_001035.3(RYR2):c.13598T>C (p.Leu4533Pro)
|
rs761272973
|
|
|
NM_001035.3(RYR2):c.13604C>G (p.Thr4535Arg)
|
rs756839134
|
|
|
NM_001035.3(RYR2):c.13605G>A (p.Thr4535=)
|
rs1573967641
|
|
|
NM_001035.3(RYR2):c.13617T>G (p.Ser4539Arg)
|
rs1553327067
|
|
|
NM_001035.3(RYR2):c.13625C>G (p.Ala4542Gly)
|
|
|
|
NM_001035.3(RYR2):c.13627A>G (p.Lys4543Glu)
|
rs745869007
|
|
|
NM_001035.3(RYR2):c.1362A>C (p.Leu454=)
|
|
|
|
NM_001035.3(RYR2):c.13630G>A (p.Val4544Met)
|
rs1235379196
|
|
|
NM_001035.3(RYR2):c.13639C>T (p.Leu4547=)
|
rs1487806159
|
|
|
NM_001035.3(RYR2):c.13643A>G (p.Asp4548Gly)
|
|
|
|
NM_001035.3(RYR2):c.13657A>G (p.Arg4553Gly)
|
|
|
|
NM_001035.3(RYR2):c.13666G>C (p.Ala4556Pro)
|
rs189345192
|
|
|
NM_001035.3(RYR2):c.13666G>T (p.Ala4556Ser)
|
rs189345192
|
|
|
NM_001035.3(RYR2):c.13672C>G (p.His4558Asp)
|
|
|
|
NM_001035.3(RYR2):c.13677T>C (p.Tyr4559=)
|
rs1658459675
|
|
|
NM_001035.3(RYR2):c.13687G>C (p.Glu4563Gln)
|
|
|
|
NM_001035.3(RYR2):c.13689G>A (p.Glu4563=)
|
rs886039157
|
|
|
NM_001035.3(RYR2):c.13689G>T (p.Glu4563Asp)
|
rs886039157
|
|
|
NM_001035.3(RYR2):c.13693A>G (p.Ser4565Gly)
|
rs2149381504
|
|
|
NM_001035.3(RYR2):c.13695C>A (p.Ser4565Arg)
|
|
|
|
NM_001035.3(RYR2):c.136C>A (p.Leu46Ile)
|
rs200643211
|
|
|
NM_001035.3(RYR2):c.13707G>A (p.Glu4569=)
|
rs1303471745
|
|
|
NM_001035.3(RYR2):c.13707G>C (p.Glu4569Asp)
|
|
|
|
NM_001035.3(RYR2):c.13710C>A (p.Pro4570=)
|
|
|
|
NM_001035.3(RYR2):c.13711A>G (p.Thr4571Ala)
|
|
|
|
NM_001035.3(RYR2):c.13713G>A (p.Thr4571=)
|
rs761552358
|
|
|
NM_001035.3(RYR2):c.13720A>T (p.Ile4574Phe)
|
|
|
|
NM_001035.3(RYR2):c.1372G>T (p.Asp458Tyr)
|
|
|
|
NM_001035.3(RYR2):c.13731T>C (p.Ile4577=)
|
rs1424050366
|
|
|
NM_001035.3(RYR2):c.13737C>A (p.His4579Gln)
|
rs886037907
|
|
|
NM_001035.3(RYR2):c.13739C>T (p.Thr4580Met)
|
rs1658469199
|
|
|
NM_001035.3(RYR2):c.13740G>T (p.Thr4580=)
|
rs115854664
|
|
|
NM_001035.3(RYR2):c.1375C>G (p.Leu459Val)
|
rs1658563996
|
|
|
NM_001035.3(RYR2):c.13763T>C (p.Ile4588Thr)
|
rs876661386
|
|
|
NM_001035.3(RYR2):c.13770C>T (p.Tyr4590=)
|
rs1260477367
|
|
|
NM_001035.3(RYR2):c.13771T>C (p.Tyr4591His)
|
|
|
|
NM_001035.3(RYR2):c.13774T>C (p.Cys4592Arg)
|
rs1193389004
|
|
|
NM_001035.3(RYR2):c.13778T>C (p.Leu4593Ser)
|
rs1558424746
|
|
|
NM_001035.3(RYR2):c.13782+10_13782+13del
|
rs775418111
|
|
|
NM_001035.3(RYR2):c.13782+17C>T
|
|
|
|
NM_001035.3(RYR2):c.13782+18C>A
|
|
|
|
NM_001035.3(RYR2):c.13782+18C>T
|
|
|
|
NM_001035.3(RYR2):c.13782+7T>C
|
|
|
|
NM_001035.3(RYR2):c.13782+7T>G
|
rs1558424783
|
|
|
NM_001035.3(RYR2):c.13782+9G>C
|
rs1553327181
|
|
|
NM_001035.3(RYR2):c.13783-18T>C
|
|
|
|
NM_001035.3(RYR2):c.13783-2A>G
|
rs1553328145
|
|
|
NM_001035.3(RYR2):c.13783-6A>C
|
rs790901
|
|
|
NM_001035.3(RYR2):c.13783-6A>T
|
rs790901
|
|
|
NM_001035.3(RYR2):c.13783-6_13783-5delinsGC
|
|
|
|
NM_001035.3(RYR2):c.13783-7_13783-6delinsCG
|
rs1658754384
|
|
|
NM_001035.3(RYR2):c.13783-9C>G
|
rs1414090080
|
|
|
NM_001035.3(RYR2):c.13783-9C>T
|
|
|
|
NM_001035.3(RYR2):c.13783G>A (p.Val4595Ile)
|
rs1430303714
|
|
|
NM_001035.3(RYR2):c.13789T>C (p.Leu4597=)
|
rs1253011897
|
|
|
NM_001035.3(RYR2):c.13798T>A (p.Phe4600Ile)
|
|
|
|
NM_001035.3(RYR2):c.13798T>C (p.Phe4600Leu)
|
rs2149388042
|
|
|
NM_001035.3(RYR2):c.1379T>C (p.Ile460Thr)
|
|
|
|
NM_001035.3(RYR2):c.13805G>A (p.Arg4602Gln)
|
rs1553328160
|
|
|
NM_001035.3(RYR2):c.13810A>G (p.Lys4604Glu)
|
rs1658760152
|
|
|
NM_001035.3(RYR2):c.13822C>T (p.Arg4608Trp)
|
rs794728799
|
|
|
NM_001035.3(RYR2):c.13823G>A (p.Arg4608Gln)
|
rs1553328170
|
|
|
NM_001035.3(RYR2):c.13824G>A (p.Arg4608=)
|
rs1658761246
|
|
|
NM_001035.3(RYR2):c.13824G>C (p.Arg4608=)
|
rs1658761246
|
|
|
NM_001035.3(RYR2):c.13830G>A (p.Leu4610=)
|
rs1311002036
|
|
|
NM_001035.3(RYR2):c.13836T>G (p.Phe4612Leu)
|
rs2149388137
|
|
|
NM_001035.3(RYR2):c.13848T>C (p.Tyr4616=)
|
rs2149388170
|
|
|
NM_001035.3(RYR2):c.13854A>C (p.Thr4618=)
|
|
|
|
NM_001035.3(RYR2):c.1385A>C (p.Tyr462Ser)
|
rs2150217492
|
|
|
NM_001035.3(RYR2):c.13875T>C (p.Asp4625=)
|
|
|
|
NM_001035.3(RYR2):c.13888T>G (p.Trp4630Gly)
|
|
|
|
NM_001035.3(RYR2):c.13897C>G (p.Leu4633Val)
|
rs1484013155
|
|
|
NM_001035.3(RYR2):c.13897C>T (p.Leu4633Phe)
|
|
|
|
NM_001035.3(RYR2):c.13899C>T (p.Leu4633=)
|
rs1057523875
|
|
|
NM_001035.3(RYR2):c.1389C>T (p.Phe463=)
|
rs781378149
|
|
|
NM_001035.3(RYR2):c.13901T>A (p.Val4634Glu)
|
|
|
|
NM_001035.3(RYR2):c.13901T>C (p.Val4634Ala)
|
rs1384324063
|
|
|
NM_001035.3(RYR2):c.13904T>A (p.Ile4635Asn)
|
rs1060500169
|
|
|
NM_001035.3(RYR2):c.13904_13906del (p.Ile4635del)
|
|
|
|
NM_001035.3(RYR2):c.13912C>T (p.Gln4638Ter)
|
|
|
|
NM_001035.3(RYR2):c.13913+19G>A
|
|
|
|
NM_001035.3(RYR2):c.13913+20A>G
|
|
|
|
NM_001035.3(RYR2):c.13914-11G>C
|
|
|
|
NM_001035.3(RYR2):c.13914-16del
|
|
|
|
NM_001035.3(RYR2):c.13914-4T>C
|
|
|
|
NM_001035.3(RYR2):c.13924A>G (p.Asn4642Asp)
|
rs865812612
|
|
|
NM_001035.3(RYR2):c.13924AAC[1] (p.Asn4643del)
|
|
|
|
NM_001035.3(RYR2):c.13926C>T (p.Asn4642=)
|
rs2149392499
|
|
|
NM_001035.3(RYR2):c.13930T>G (p.Tyr4644Asp)
|
rs2149392507
|
|
|
NM_001035.3(RYR2):c.13937A>C (p.Asp4646Ala)
|
rs1658967336
|
|
|
NM_001035.3(RYR2):c.13938C>A (p.Asp4646Glu)
|
|
|
|
NM_001035.3(RYR2):c.13956+13G>A
|
rs759555189
|
|
|
NM_001035.3(RYR2):c.13957-7C>T
|
rs1659470496
|
|
|
NM_001035.3(RYR2):c.13957G>T (p.Val4653Phe)
|
rs121918604
|
|
|
NM_001035.3(RYR2):c.1395C>A (p.Pro465=)
|
rs111990043
|
|
|
NM_001035.3(RYR2):c.1395C>G (p.Pro465=)
|
rs111990043
|
|
|
NM_001035.3(RYR2):c.1395C>T (p.Pro465=)
|
|
|
|
NM_001035.3(RYR2):c.13966A>C (p.Lys4656Gln)
|
|
|
|
NM_001035.3(RYR2):c.1397C>G (p.Pro466Arg)
|
rs967199869
|
|
|
NM_001035.3(RYR2):c.1397C>T (p.Pro466Leu)
|
|
|
|
NM_001035.3(RYR2):c.13984G>C (p.Gly4662Arg)
|
rs886039213
|
|
|
NM_001035.3(RYR2):c.13985G>T (p.Gly4662Val)
|
|
|
|
NM_001035.3(RYR2):c.13987C>G (p.Arg4663Gly)
|
|
|
|
NM_001035.3(RYR2):c.13988G>A (p.Arg4663Gln)
|
|
|
|
NM_001035.3(RYR2):c.13989A>G (p.Arg4663=)
|
rs2149404155
|
|
|
NM_001035.3(RYR2):c.13994G>A (p.Arg4665Lys)
|
rs1299849256
|
|
|
NM_001035.3(RYR2):c.139T>C (p.Cys47Arg)
|
|
|
|
NM_001035.3(RYR2):c.14000G>T (p.Ser4667Ile)
|
rs1057523888
|
|
|
NM_001035.3(RYR2):c.14008C>G (p.Leu4670Val)
|
|
|
|
NM_001035.3(RYR2):c.14008C>T (p.Leu4670Phe)
|
rs775408548
|
|
|
NM_001035.3(RYR2):c.14012G>T (p.Gly4671Val)
|
rs1420186189
|
|
|
NM_001035.3(RYR2):c.14013C>A (p.Gly4671=)
|
rs1416459319
|
|
|
NM_001035.3(RYR2):c.14014A>T (p.Met4672Leu)
|
|
|
|
NM_001035.3(RYR2):c.1401T>A (p.Asp467Glu)
|
rs1658569816
|
|
|
NM_001035.3(RYR2):c.14020A>G (p.Lys4674Glu)
|
rs2149404327
|
|
|
NM_001035.3(RYR2):c.14021A>T (p.Lys4674Met)
|
|
|
|
NM_001035.3(RYR2):c.14028T>C (p.Ala4676=)
|
|
|
|
NM_001035.3(RYR2):c.14043T>C (p.Asp4681=)
|
rs1659489574
|
|
|
NM_001035.3(RYR2):c.14048_14049delinsAT (p.Arg4683Asn)
|
rs1558439258
|
|
|
NM_001035.3(RYR2):c.14053AAG[2] (p.Lys4687del)
|
rs1245102430
|
|
|
NM_001035.3(RYR2):c.14055G>C (p.Lys4685Asn)
|
|
|
|
NM_001035.3(RYR2):c.14057A>C (p.Lys4686Thr)
|
rs2149404469
|
|
|
NM_001035.3(RYR2):c.1405C>G (p.His469Asp)
|
|
|
|
NM_001035.3(RYR2):c.14062C>G (p.Pro4688Ala)
|
rs1659493419
|
|
|
NM_001035.3(RYR2):c.14064A>C (p.Pro4688=)
|
rs2149404496
|
|
|
NM_001035.3(RYR2):c.14068A>G (p.Lys4690Glu)
|
rs912687349
|
|
|
NM_001035.3(RYR2):c.14073C>A (p.Asp4691Glu)
|
|
|
|
NM_001035.3(RYR2):c.14074A>G (p.Ser4692Gly)
|
rs1659497202
|
|
|
NM_001035.3(RYR2):c.14076C>T (p.Ser4692=)
|
|
|
|
NM_001035.3(RYR2):c.14078C>T (p.Ser4693Phe)
|
|
|
|
NM_001035.3(RYR2):c.14079_14081del (p.Leu4694del)
|
rs1573997412
|
|
|
NM_001035.3(RYR2):c.14080T>G (p.Leu4694Val)
|
rs2149404631
|
|
|
NM_001035.3(RYR2):c.14083T>C (p.Ser4695Pro)
|
|
|
|
NM_001035.3(RYR2):c.1408T>G (p.Leu470Val)
|
|
|
|
NM_001035.3(RYR2):c.14090+11C>T
|
rs2149404729
|
|
|
NM_001035.3(RYR2):c.14090+16G>A
|
|
|
|
NM_001035.3(RYR2):c.14090+16dup
|
|
|
|
NM_001035.3(RYR2):c.14090+17C>T
|
rs1397472913
|
|
|
NM_001035.3(RYR2):c.14090+1G>T
|
rs770329524
|
|
|
NM_001035.3(RYR2):c.14090T>C (p.Val4697Ala)
|
|
|
|
NM_001035.3(RYR2):c.14091-10G>T
|
rs199569629
|
|
|
NM_001035.3(RYR2):c.14091-18T>A
|
|
|
|
NM_001035.3(RYR2):c.14091-20T>A
|
|
|
|
NM_001035.3(RYR2):c.14091-20T>G
|
|
|
|
NM_001035.3(RYR2):c.14091-4G>A
|
rs1380406964
|
|
|
NM_001035.3(RYR2):c.14091-5T>G
|
rs1048452537
|
|
|
NM_001035.3(RYR2):c.14093T>C (p.Leu4698Pro)
|
rs1553332764
|
|
|
NM_001035.3(RYR2):c.14094G>T (p.Leu4698=)
|
rs2149419480
|
|
|
NM_001035.3(RYR2):c.14102T>C (p.Ile4701Thr)
|
rs2149419516
|
|
|
NM_001035.3(RYR2):c.14111A>G (p.Lys4704Arg)
|
|
|
|
NM_001035.3(RYR2):c.14112G>T (p.Lys4704Asn)
|
|
|
|
NM_001035.3(RYR2):c.14121G>A (p.Met4707Ile)
|
rs1660018312
|
|
|
NM_001035.3(RYR2):c.14122T>G (p.Trp4708Gly)
|
rs397516513
|
|
|
NM_001035.3(RYR2):c.14129T>C (p.Leu4710Pro)
|
rs1574013352
|
|
|
NM_001035.3(RYR2):c.14131G>A (p.Gly4711Arg)
|
rs1660019000
|
|
|
NM_001035.3(RYR2):c.14132G>A (p.Gly4711Glu)
|
|
|
|
NM_001035.3(RYR2):c.14133A>G (p.Gly4711=)
|
rs1487075001
|
|
|
NM_001035.3(RYR2):c.14136C>A (p.Val4712=)
|
rs756435572
|
|
|
NM_001035.3(RYR2):c.14136C>T (p.Val4712=)
|
rs756435572
|
|
|
NM_001035.3(RYR2):c.14137G>A (p.Val4713Ile)
|
|
|
|
NM_001035.3(RYR2):c.14139T>C (p.Val4713=)
|
rs2149419643
|
|
|
NM_001035.3(RYR2):c.14148C>A (p.Asp4716Glu)
|
rs778193795
|
|
|
NM_001035.3(RYR2):c.14148C>T (p.Asp4716=)
|
|
|
|
NM_001035.3(RYR2):c.14151+10C>G
|
rs2149419733
|
|
|
NM_001035.3(RYR2):c.14151+12T>A
|
rs2149419743
|
|
|
NM_001035.3(RYR2):c.14151+18T>A
|
|
|
|
NM_001035.3(RYR2):c.14151+4A>G
|
rs2149419707
|
|
|
NM_001035.3(RYR2):c.14151+6C>T
|
|
|
|
NM_001035.3(RYR2):c.14152-13T>C
|
rs2149437375
|
|
|
NM_001035.3(RYR2):c.14152-16C>G
|
rs764414769
|
|
|
NM_001035.3(RYR2):c.14152-16C>T
|
rs764414769
|
|
|
NM_001035.3(RYR2):c.14152-18C>T
|
|
|
|
NM_001035.3(RYR2):c.14152-20C>A
|
rs2149437341
|
|
|
NM_001035.3(RYR2):c.14152-8C>G
|
rs1660611538
|
|
|
NM_001035.3(RYR2):c.14161T>C (p.Tyr4721His)
|
rs1660612706
|
|
|
NM_001035.3(RYR2):c.14162A>T (p.Tyr4721Phe)
|
rs1660612939
|
|
|
NM_001035.3(RYR2):c.14164C>T (p.Leu4722=)
|
rs2149437433
|
|
|
NM_001035.3(RYR2):c.14169C>T (p.Ala4723=)
|
rs1222318801
|
|
|
NM_001035.3(RYR2):c.14174A>G (p.Tyr4725Cys)
|
rs2149437479
|
|
|
NM_001035.3(RYR2):c.14176A>G (p.Met4726Val)
|
rs2149437486
|
|
|
NM_001035.3(RYR2):c.14181T>A (p.Thr4727=)
|
|
|
|
NM_001035.3(RYR2):c.14184G>A (p.Met4728Ile)
|
|
|
|
NM_001035.3(RYR2):c.14196A>T (p.Gly4732=)
|
rs2149437535
|
|
|
NM_001035.3(RYR2):c.14198A>G (p.His4733Arg)
|
|
|
|
NM_001035.3(RYR2):c.14199C>T (p.His4733=)
|
|
|
|
NM_001035.3(RYR2):c.14201A>G (p.Tyr4734Cys)
|
rs1660616083
|
|
|
NM_001035.3(RYR2):c.14204A>T (p.Asn4735Ile)
|
|
|
|
NM_001035.3(RYR2):c.14217dup (p.Ala4740fs)
|
rs749201569
|
|
|
NM_001035.3(RYR2):c.14221G>A (p.Ala4741Thr)
|
rs2149437588
|
|
|
NM_001035.3(RYR2):c.14222C>T (p.Ala4741Val)
|
rs2149437594
|
|
|
NM_001035.3(RYR2):c.14223_14224insTTTTT (p.His4742fs)
|
rs1574034151
|
|
|
NM_001035.3(RYR2):c.14224C>T (p.His4742Tyr)
|
rs1358033974
|
|
|
NM_001035.3(RYR2):c.14226C>A (p.His4742Gln)
|
rs2149437622
|
|
|
NM_001035.3(RYR2):c.14232C>T (p.Leu4744=)
|
rs777371415
|
|
|
NM_001035.3(RYR2):c.14233G>A (p.Asp4745Asn)
|
rs1660618055
|
|
|
NM_001035.3(RYR2):c.14234A>G (p.Asp4745Gly)
|
rs2149437640
|
|
|
NM_001035.3(RYR2):c.14238_14243del (p.Ile4746_Ala4747del)
|
rs1660618834
|
|
|
NM_001035.3(RYR2):c.14241T>C (p.Ala4747=)
|
rs769753371
|
|
|
NM_001035.3(RYR2):c.14246G>T (p.Gly4749Val)
|
rs1558457775
|
|
|
NM_001035.3(RYR2):c.14250C>T (p.Phe4750=)
|
|
|
|
NM_001035.3(RYR2):c.14251A>G (p.Lys4751Glu)
|
rs794728802
|
|
|
NM_001035.3(RYR2):c.14252A>T (p.Lys4751Met)
|
rs2149437719
|
|
|
NM_001035.3(RYR2):c.14259A>G (p.Leu4753=)
|
rs1660620758
|
|
|
NM_001035.3(RYR2):c.14264C>A (p.Thr4755Asn)
|
rs1553334770
|
|
|
NM_001035.3(RYR2):c.14264C>T (p.Thr4755Ile)
|
rs1553334770
|
|
|
NM_001035.3(RYR2):c.14265C>G (p.Thr4755=)
|
rs2149437750
|
|
|
NM_001035.3(RYR2):c.14265C>T (p.Thr4755=)
|
rs2149437750
|
|
|
NM_001035.3(RYR2):c.14271G>A (p.Leu4757=)
|
rs2149437767
|
|
|
NM_001035.3(RYR2):c.14274C>T (p.Ser4758=)
|
rs2149437784
|
|
|
NM_001035.3(RYR2):c.14278G>A (p.Val4760Ile)
|
rs794728831
|
|
|
NM_001035.3(RYR2):c.14284C>T (p.His4762Tyr)
|
|
|
|
NM_001035.3(RYR2):c.14288A>G (p.Asn4763Ser)
|
rs794728803
|
|
|
NM_001035.3(RYR2):c.1428G>T (p.Gln476His)
|
rs1281984170
|
|
|
NM_001035.3(RYR2):c.14292C>G (p.Gly4764=)
|
rs1660622870
|
|
|
NM_001035.3(RYR2):c.14297A>C (p.Gln4766Pro)
|
|
|
|
NM_001035.3(RYR2):c.14298+10T>G
|
rs377240284
|
|
|
NM_001035.3(RYR2):c.14298+14C>A
|
|
|
|
NM_001035.3(RYR2):c.14298+18T>G
|
|
|
|
NM_001035.3(RYR2):c.14298+20C>G
|
|
|
|
NM_001035.3(RYR2):c.14298+9T>C
|
|
|
|
NM_001035.3(RYR2):c.14299-3C>T
|
rs2149446318
|
|
|
NM_001035.3(RYR2):c.14299-9G>A
|
rs1660957267
|
|
|
NM_001035.3(RYR2):c.14311G>A (p.Val4771Ile)
|
rs794728804
|
|
|
NM_001035.3(RYR2):c.14311G>T (p.Val4771Phe)
|
|
|
|
NM_001035.3(RYR2):c.14316C>T (p.Gly4772=)
|
rs2149446388
|
|
|
NM_001035.3(RYR2):c.14319A>G (p.Leu4773=)
|
|
|
|
NM_001035.3(RYR2):c.1431C>T (p.Asn477=)
|
rs1225809471
|
|
|
NM_001035.3(RYR2):c.14325T>C (p.Ala4775=)
|
rs1660960345
|
|
|
NM_001035.3(RYR2):c.14332G>A (p.Val4778Ile)
|
rs1060500151
|
|
|
NM_001035.3(RYR2):c.14332G>T (p.Val4778Leu)
|
rs1060500151
|
|
|
NM_001035.3(RYR2):c.14338C>G (p.Leu4780Val)
|
|
|
|
NM_001035.3(RYR2):c.14338C>T (p.Leu4780=)
|
rs764103963
|
|
|
NM_001035.3(RYR2):c.14342A>G (p.Tyr4781Cys)
|
rs2149446480
|
|
|
NM_001035.3(RYR2):c.14346T>C (p.Thr4782=)
|
rs1660962830
|
|
|
NM_001035.3(RYR2):c.14347G>T (p.Val4783Leu)
|
rs2149446503
|
|
|
NM_001035.3(RYR2):c.14368C>T (p.Arg4790Ter)
|
rs1660964820
|
|
|
NM_001035.3(RYR2):c.14369G>T (p.Arg4790Leu)
|
|
|
|
NM_001035.3(RYR2):c.14372A>C (p.Lys4791Thr)
|
|
|
|
NM_001035.3(RYR2):c.14383A>G (p.Lys4795Glu)
|
rs1558462911
|
|
|
NM_001035.3(RYR2):c.14388T>C (p.Ser4796=)
|
rs2149446615
|
|
|
NM_001035.3(RYR2):c.14403_14404del (p.Pro4802fs)
|
|
|
|
NM_001035.3(RYR2):c.14405C>T (p.Pro4802Leu)
|
rs1660968129
|
|
|
NM_001035.3(RYR2):c.14433+5G>A
|
|
|
|
NM_001035.3(RYR2):c.14434-15A>G
|
|
|
|
NM_001035.3(RYR2):c.14434-15A>T
|
rs1414554358
|
|
|
NM_001035.3(RYR2):c.14434-17C>G
|
|
|
|
NM_001035.3(RYR2):c.14434-5T>C
|
rs2102824382
|
|
|
NM_001035.3(RYR2):c.14439T>C (p.Tyr4813=)
|
rs2102824544
|
|
|
NM_001035.3(RYR2):c.14450T>G (p.Met4817Arg)
|
|
|
|
NM_001035.3(RYR2):c.14464C>G (p.Arg4822Gly)
|
rs876657986
|
|
|
NM_001035.3(RYR2):c.14464C>T (p.Arg4822Cys)
|
|
|
|
NM_001035.3(RYR2):c.14465G>A (p.Arg4822His)
|
rs794728805
|
|
|
NM_001035.3(RYR2):c.14465G>T (p.Arg4822Leu)
|
|
|
|
NM_001035.3(RYR2):c.14473G>A (p.Gly4825Arg)
|
|
|
|
NM_001035.3(RYR2):c.14475A>T (p.Gly4825=)
|
|
|
|
NM_001035.3(RYR2):c.14477G>A (p.Gly4826Glu)
|
rs1662149581
|
|
|
NM_001035.3(RYR2):c.14481C>A (p.Ile4827=)
|
rs114303476
|
|
|
NM_001035.3(RYR2):c.14481C>T (p.Ile4827=)
|
rs114303476
|
|
|
NM_001035.3(RYR2):c.14482G>A (p.Gly4828Arg)
|
rs1402571360
|
|
|
NM_001035.3(RYR2):c.14493C>A (p.Ile4831=)
|
|
|
|
NM_001035.3(RYR2):c.14494G>A (p.Glu4832Lys)
|
rs1443988544
|
|
|
NM_001035.3(RYR2):c.14511T>C (p.Asp4837=)
|
rs2102825210
|
|
|
NM_001035.3(RYR2):c.14522T>C (p.Ile4841Thr)
|
|
|
|
NM_001035.3(RYR2):c.14527C>A (p.Arg4843=)
|
rs1553339074
|
|
|
NM_001035.3(RYR2):c.1452T>A (p.Asn484Lys)
|
rs1195833247
|
|
|
NM_001035.3(RYR2):c.1453C>T (p.Arg485Trp)
|
rs766420655
|
|
|
NM_001035.3(RYR2):c.14542A>G (p.Ile4848Val)
|
rs1363298408
|
|
|
NM_001035.3(RYR2):c.14546C>T (p.Thr4849Ile)
|
rs2102825501
|
|
|
NM_001035.3(RYR2):c.14550CTT[2] (p.Phe4853del)
|
|
|
|
NM_001035.3(RYR2):c.14553C>A (p.Phe4851Leu)
|
rs1291829047
|
|
|
NM_001035.3(RYR2):c.14553C>T (p.Phe4851=)
|
|
|
|
NM_001035.3(RYR2):c.14556_14559del (p.Phe4852fs)
|
rs2102825624
|
|
|
NM_001035.3(RYR2):c.1455G>A (p.Arg485=)
|
rs2150218150
|
|
|
NM_001035.3(RYR2):c.14563A>G (p.Ile4855Val)
|
|
|
|
NM_001035.3(RYR2):c.14564T>C (p.Ile4855Thr)
|
rs2102825699
|
|
|
NM_001035.3(RYR2):c.14569A>G (p.Ile4857Val)
|
rs1085307524
|
|
|
NM_001035.3(RYR2):c.14577G>A (p.Leu4859=)
|
rs1662156109
|
|
|
NM_001035.3(RYR2):c.14579C>G (p.Ala4860Gly)
|
rs121918606
|
|
|
NM_001035.3(RYR2):c.14585T>C (p.Ile4862Thr)
|
rs1553339084
|
|
|
NM_001035.3(RYR2):c.14586A>G (p.Ile4862Met)
|
rs1558481148
|
|
|
NM_001035.3(RYR2):c.14590+13_14590+15del
|
|
|
|
NM_001035.3(RYR2):c.14590+15C>T
|
rs2102826245
|
|
|
NM_001035.3(RYR2):c.14590+19G>A
|
|
|
|
NM_001035.3(RYR2):c.14590+3A>G
|
rs756787746
|
|
|
NM_001035.3(RYR2):c.14590+4A>G
|
|
|
|
NM_001035.3(RYR2):c.14590+6T>C
|
|
|
|
NM_001035.3(RYR2):c.14590+7A>C
|
rs1553339087
|
|
|
NM_001035.3(RYR2):c.14590+7A>G
|
rs1553339087
|
|
|
NM_001035.3(RYR2):c.14590G>T (p.Gly4864Cys)
|
rs1553339086
|
|
|
NM_001035.3(RYR2):c.14591-13T>G
|
rs1663397019
|
|
|
NM_001035.3(RYR2):c.14591-16T>G
|
|
|
|
NM_001035.3(RYR2):c.14591-20G>A
|
|
|
|
NM_001035.3(RYR2):c.14591-5A>G
|
rs1663397881
|
|
|
NM_001035.3(RYR2):c.14591-9del
|
rs876657987
|
|
|
NM_001035.3(RYR2):c.14592T>C (p.Gly4864=)
|
rs774554572
|
|
|
NM_001035.3(RYR2):c.14592T>G (p.Gly4864=)
|
rs774554572
|
|
|
NM_001035.3(RYR2):c.14599A>G (p.Ile4867Val)
|
rs2102926200
|
|
|
NM_001035.3(RYR2):c.14602G>A (p.Asp4868Asn)
|
rs1663399787
|
|
|
NM_001035.3(RYR2):c.14602G>T (p.Asp4868Tyr)
|
rs1663399787
|
|
|
NM_001035.3(RYR2):c.14604T>A (p.Asp4868Glu)
|
|
|
|
NM_001035.3(RYR2):c.14604T>G (p.Asp4868Glu)
|
|
|
|
NM_001035.3(RYR2):c.14609T>C (p.Phe4870Ser)
|
|
|
|
NM_001035.3(RYR2):c.14617C>T (p.Leu4873=)
|
rs1663400290
|
|
|
NM_001035.3(RYR2):c.14634A>G (p.Glu4878=)
|
|
|
|
NM_001035.3(RYR2):c.14637A>G (p.Gln4879=)
|
rs1553341953
|
|
|
NM_001035.3(RYR2):c.14638G>A (p.Val4880Ile)
|
rs2102926494
|
|
|
NM_001035.3(RYR2):c.14647G>T (p.Asp4883Tyr)
|
rs868808156
|
|
|
NM_001035.3(RYR2):c.14651T>C (p.Met4884Thr)
|
|
|
|
NM_001035.3(RYR2):c.14651T>G (p.Met4884Arg)
|
rs2102926629
|
|
|
NM_001035.3(RYR2):c.14651_14652insTCC (p.Met4884delinsIlePro)
|
rs1663402590
|
|
|
NM_001035.3(RYR2):c.14655+13A>G
|
|
|
|
NM_001035.3(RYR2):c.14655+19G>A
|
|
|
|
NM_001035.3(RYR2):c.14655+7T>C
|
|
|
|
NM_001035.3(RYR2):c.14656-13C>A
|
rs1663654908
|
|
|
NM_001035.3(RYR2):c.14656-14C>G
|
|
|
|
NM_001035.3(RYR2):c.14656-19A>G
|
|
|
|
NM_001035.3(RYR2):c.14656-6T>C
|
rs2102946547
|
|
|
NM_001035.3(RYR2):c.14656A>G (p.Thr4886Ala)
|
|
|
|
NM_001035.3(RYR2):c.14674G>A (p.Gly4892Arg)
|
|
|
|
NM_001035.3(RYR2):c.14676G>A (p.Gly4892=)
|
|
|
|
NM_001035.3(RYR2):c.14679A>G (p.Ile4893Met)
|
|
|
|
NM_001035.3(RYR2):c.14683A>C (p.Asn4895His)
|
rs1185619003
|
|
|
NM_001035.3(RYR2):c.14685T>C (p.Asn4895=)
|
rs2102946919
|
|
|
NM_001035.3(RYR2):c.14692T>A (p.Phe4898Ile)
|
rs886046280
|
|
|
NM_001035.3(RYR2):c.14692T>G (p.Phe4898Val)
|
|
|
|
NM_001035.3(RYR2):c.14700A>C (p.Thr4900=)
|
|
|
|
NM_001035.3(RYR2):c.14701G>A (p.Val4901Met)
|
rs2102947130
|
|
|
NM_001035.3(RYR2):c.14709T>A (p.His4903Gln)
|
|
|
|
NM_001035.3(RYR2):c.1470G>A (p.Gln490=)
|
rs752945105
|
|
|
NM_001035.3(RYR2):c.14710G>A (p.Gly4904Ser)
|
rs2102947297
|
|
|
NM_001035.3(RYR2):c.14711G>A (p.Gly4904Asp)
|
rs886038888
|
|
|
NM_001035.3(RYR2):c.14718A>C (p.Glu4906Asp)
|
rs1553342497
|
|
|
NM_001035.3(RYR2):c.1471G>A (p.Glu491Lys)
|
rs1658580412
|
|
|
NM_001035.3(RYR2):c.14722C>A (p.His4908Asn)
|
|
|
|
NM_001035.3(RYR2):c.14726C>T (p.Thr4909Ile)
|
rs730880201
|
|
|
NM_001035.3(RYR2):c.14727T>A (p.Thr4909=)
|
rs1663663783
|
|
|
NM_001035.3(RYR2):c.14730A>G (p.Leu4910=)
|
rs1553342510
|
|
|
NM_001035.3(RYR2):c.14736G>A (p.Glu4912=)
|
|
|
|
NM_001035.3(RYR2):c.14737C>T (p.His4913Tyr)
|
rs2102947618
|
|
|
NM_001035.3(RYR2):c.14739C>T (p.His4913=)
|
rs767291905
|
|
|
NM_001035.3(RYR2):c.14746G>A (p.Ala4916Thr)
|
rs1663665510
|
|
|
NM_001035.3(RYR2):c.14751T>G (p.Asn4917Lys)
|
|
|
|
NM_001035.3(RYR2):c.14756+12C>A
|
rs2275693
|
|
|
NM_001035.3(RYR2):c.14756+13G>A
|
|
|
|
NM_001035.3(RYR2):c.14756+14T>C
|
|
|
|
NM_001035.3(RYR2):c.14756+7G>T
|
|
|
|
NM_001035.3(RYR2):c.14756+8T>A
|
rs2102947779
|
|
|
NM_001035.3(RYR2):c.14757-10G>T
|
|
|
|
NM_001035.3(RYR2):c.14757-14C>G
|
|
|
|
NM_001035.3(RYR2):c.14757-18G>A
|
rs375553165
|
|
|
NM_001035.3(RYR2):c.14757-20C>G
|
|
|
|
NM_001035.3(RYR2):c.14757-7_14757-6delinsAT
|
rs727504630
|
|
|
NM_001035.3(RYR2):c.14757-8A>G
|
|
|
|
NM_001035.3(RYR2):c.1476+18C>G
|
|
|
|
NM_001035.3(RYR2):c.1476+20C>T
|
|
|
|
NM_001035.3(RYR2):c.1476+4C>A
|
rs369442980
|
|
|
NM_001035.3(RYR2):c.14769G>T (p.Met4923Ile)
|
rs1663792524
|
|
|
NM_001035.3(RYR2):c.1477-11del
|
rs397516518
|
|
|
NM_001035.3(RYR2):c.1477-13T>G
|
|
|
|
NM_001035.3(RYR2):c.1477-15_1477-14insC
|
|
|
|
NM_001035.3(RYR2):c.1477-7G>T
|
rs763127313
|
|
|
NM_001035.3(RYR2):c.14773C>G (p.Leu4925Val)
|
|
|
|
NM_001035.3(RYR2):c.14777T>C (p.Ile4926Thr)
|
rs1663793007
|
|
|
NM_001035.3(RYR2):c.14778A>C (p.Ile4926=)
|
|
|
|
NM_001035.3(RYR2):c.14807A>G (p.Gln4936Arg)
|
|
|
|
NM_001035.3(RYR2):c.14808+17A>G
|
|
|
|
NM_001035.3(RYR2):c.14809-14C>T
|
|
|
|
NM_001035.3(RYR2):c.14809-14del
|
|
|
|
NM_001035.3(RYR2):c.14809-16del
|
rs769123824
|
|
|
NM_001035.3(RYR2):c.14809-1G>A
|
rs2102967720
|
|
|
NM_001035.3(RYR2):c.14809-4G>A
|
rs1574134275
|
|
|
NM_001035.3(RYR2):c.14813C>T (p.Ser4938Phe)
|
rs2102967780
|
|
|
NM_001035.3(RYR2):c.1483A>T (p.Ile495Phe)
|
|
|
|
NM_001035.3(RYR2):c.14843G>A (p.Cys4948Tyr)
|
rs2102968070
|
|
|
NM_001035.3(RYR2):c.14845T>C (p.Trp4949Arg)
|
rs794728810
|
|
|
NM_001035.3(RYR2):c.14848G>C (p.Glu4950Gln)
|
rs886039172
|
|
|
NM_001035.3(RYR2):c.14864G>A (p.Gly4955Glu)
|
rs1553343100
|
|
|
NM_001035.3(RYR2):c.14868_14878del (p.Asp4956fs)
|
|
|
|
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln)
|
rs794728811
|
|
|
NM_001035.3(RYR2):c.14881C>G (p.Gln4961Glu)
|
|
|
|
NM_001035.3(RYR2):c.14881C>T (p.Gln4961Ter)
|
rs1574134528
|
|
|
NM_001035.3(RYR2):c.14885A>G (p.Tyr4962Cys)
|
rs794728832
|
|
|
NM_001035.3(RYR2):c.14887G>A (p.Glu4963Lys)
|
|
|
|
NM_001035.3(RYR2):c.14893C>G (p.Gln4965Glu)
|
rs1663933692
|
|
|
NM_001035.3(RYR2):c.14895G>A (p.Gln4965=)
|
rs770551852
|
|
|
NM_001035.3(RYR2):c.14897T>C (p.Leu4966Pro)
|
|
|
|
NM_001035.3(RYR2):c.14898A>T (p.Leu4966=)
|
|
|
|
NM_001035.3(RYR2):c.14904_*1dup (p.Ter4968=)
|
rs777179393
|
|
|
NM_001035.3(RYR2):c.14G>A (p.Gly5Asp)
|
rs1660034518
|
|
|
NM_001035.3(RYR2):c.1501T>G (p.Cys501Gly)
|
rs969500202
|
|
|
NM_001035.3(RYR2):c.1503C>T (p.Cys501=)
|
rs1451394775
|
|
|
NM_001035.3(RYR2):c.1510C>T (p.Arg504Cys)
|
rs373502556
|
|
|
NM_001035.3(RYR2):c.1537del (p.His513fs)
|
|
|
|
NM_001035.3(RYR2):c.1539C>T (p.His513=)
|
rs1303496576
|
|
|
NM_001035.3(RYR2):c.1554T>C (p.Ala518=)
|
rs2150229564
|
|
|
NM_001035.3(RYR2):c.1556G>C (p.Gly519Ala)
|
rs1658861680
|
|
|
NM_001035.3(RYR2):c.1558C>A (p.Arg520=)
|
rs749567039
|
|
|
NM_001035.3(RYR2):c.1559G>T (p.Arg520Leu)
|
rs564957172
|
|
|
NM_001035.3(RYR2):c.1565_1567del (p.Ala522del)
|
rs1658864172
|
|
|
NM_001035.3(RYR2):c.1566A>T (p.Ala522=)
|
rs1658864720
|
|
|
NM_001035.3(RYR2):c.157T>G (p.Ser53Ala)
|
|
|
|
NM_001035.3(RYR2):c.1581A>G (p.Lys527=)
|
|
|
|
NM_001035.3(RYR2):c.1583C>T (p.Ser528Phe)
|
rs867134734
|
|
|
NM_001035.3(RYR2):c.1596T>C (p.Ser532=)
|
rs796950414
|
|
|
NM_001035.3(RYR2):c.1597_1602del (p.Leu533_Tyr534del)
|
|
|
|
NM_001035.3(RYR2):c.1599G>A (p.Leu533=)
|
|
|
|
NM_001035.3(RYR2):c.1600T>C (p.Tyr534His)
|
rs376007579
|
|
|
NM_001035.3(RYR2):c.1601A>G (p.Tyr534Cys)
|
rs1572409976
|
|
|
NM_001035.3(RYR2):c.1604A>G (p.Glu535Gly)
|
rs869025509
|
|
|
NM_001035.3(RYR2):c.1605G>A (p.Glu535=)
|
rs2150229955
|
|
|
NM_001035.3(RYR2):c.1612+10A>G
|
rs886046262
|
|
|
NM_001035.3(RYR2):c.1612+13A>T
|
|
|
|
NM_001035.3(RYR2):c.1612+13_1612+14delinsGC
|
rs1064795529
|
|
|
NM_001035.3(RYR2):c.1612+18G>T
|
|
|
|
NM_001035.3(RYR2):c.1612+8G>C
|
rs375122829
|
|
|
NM_001035.3(RYR2):c.1612+9C>T
|
|
|
|
NM_001035.3(RYR2):c.1613-18C>G
|
|
|
|
NM_001035.3(RYR2):c.1613-20A>G
|
|
|
|
NM_001035.3(RYR2):c.1613-4G>C
|
rs1553462847
|
|
|
NM_001035.3(RYR2):c.1613-9C>G
|
|
|
|
NM_001035.3(RYR2):c.1615G>A (p.Ala539Thr)
|
rs2150301097
|
|
|
NM_001035.3(RYR2):c.1618C>A (p.Leu540Ile)
|
|
|
|
NM_001035.3(RYR2):c.161A>G (p.Asn54Ser)
|
|
|
|
NM_001035.3(RYR2):c.1631A>G (p.Asn544Ser)
|
|
|
|
NM_001035.3(RYR2):c.1633C>G (p.Arg545Gly)
|
rs1660399641
|
|
|
NM_001035.3(RYR2):c.1634G>A (p.Arg545His)
|
|
|
|
NM_001035.3(RYR2):c.1637A>G (p.Lys546Arg)
|
rs1660400133
|
|
|
NM_001035.3(RYR2):c.1639A>C (p.Asn547His)
|
|
|
|
NM_001035.3(RYR2):c.1641C>A (p.Asn547Lys)
|
rs794728722
|
|
|
NM_001035.3(RYR2):c.1643G>A (p.Cys548Tyr)
|
rs1660401182
|
|
|
NM_001035.3(RYR2):c.1646C>T (p.Ala549Val)
|
rs794728817
|
|
|
NM_001035.3(RYR2):c.1647T>C (p.Ala549=)
|
rs1553462870
|
|
|
NM_001035.3(RYR2):c.1655C>T (p.Ser552Phe)
|
rs1660402614
|
|
|
NM_001035.3(RYR2):c.1656T>C (p.Ser552=)
|
rs780295728
|
|
|
NM_001035.3(RYR2):c.1659C>T (p.Gly553=)
|
rs2150301358
|
|
|
NM_001035.3(RYR2):c.1661C>A (p.Ser554Tyr)
|
|
|
|
NM_001035.3(RYR2):c.1665C>G (p.Leu555=)
|
rs371262363
|
|
|
NM_001035.3(RYR2):c.1666G>A (p.Asp556Asn)
|
|
|
|
NM_001035.3(RYR2):c.1677C>G (p.Ile559Met)
|
|
|
|
NM_001035.3(RYR2):c.1678A>G (p.Ser560Gly)
|
rs759121593
|
|
|
NM_001035.3(RYR2):c.168+14T>G
|
|
|
|
NM_001035.3(RYR2):c.168+17C>G
|
|
|
|
NM_001035.3(RYR2):c.168+4G>A
|
rs1689584784
|
|
|
NM_001035.3(RYR2):c.1686G>A (p.Leu562=)
|
|
|
|
NM_001035.3(RYR2):c.169-15C>G
|
|
|
|
NM_001035.3(RYR2):c.169-198_273+820del
|
|
|
|
NM_001035.3(RYR2):c.169-19T>C
|
|
|
|
NM_001035.3(RYR2):c.169-8C>T
|
|
|
|
NM_001035.3(RYR2):c.1708+11T>C
|
|
|
|
NM_001035.3(RYR2):c.1709-12T>C
|
|
|
|
NM_001035.3(RYR2):c.1709-15T>A
|
rs1663379209
|
|
|
NM_001035.3(RYR2):c.1709-17_1709-14del
|
rs1064794455
|
|
|
NM_001035.3(RYR2):c.1709-8A>G
|
|
|
|
NM_001035.3(RYR2):c.1712T>A (p.Ile571Asn)
|
rs886046263
|
|
|
NM_001035.3(RYR2):c.1719del (p.Val574fs)
|
|
|
|
NM_001035.3(RYR2):c.1723T>C (p.Leu575=)
|
rs2150412869
|
|
|
NM_001035.3(RYR2):c.1727A>G (p.His576Arg)
|
rs794728818
|
|
|
NM_001035.3(RYR2):c.1738G>T (p.Val580Leu)
|
rs1572569244
|
|
|
NM_001035.3(RYR2):c.174G>A (p.Val58=)
|
|
|
|
NM_001035.3(RYR2):c.1758A>G (p.Leu586=)
|
rs1260289435
|
|
|
NM_001035.3(RYR2):c.1770A>G (p.Lys590=)
|
rs2150412988
|
|
|
NM_001035.3(RYR2):c.1771G>C (p.Glu591Gln)
|
|
|
|
NM_001035.3(RYR2):c.1772A>G (p.Glu591Gly)
|
|
|
|
NM_001035.3(RYR2):c.177C>G (p.Pro59=)
|
rs1274699222
|
|
|
NM_001035.3(RYR2):c.1784A>G (p.Lys595Arg)
|
rs1370136013
|
|
|
NM_001035.3(RYR2):c.1789A>T (p.Ile597Phe)
|
|
|
|
NM_001035.3(RYR2):c.178C>T (p.Pro60Ser)
|
rs1696641342
|
|
|
NM_001035.3(RYR2):c.1792A>G (p.Ile598Val)
|
|
|
|
NM_001035.3(RYR2):c.1798C>G (p.Leu600Val)
|
|
|
|
NM_001035.3(RYR2):c.1799T>A (p.Leu600His)
|
|
|
|
NM_001035.3(RYR2):c.1803del (p.Asp602fs)
|
rs2150413242
|
|
|
NM_001035.3(RYR2):c.1814G>T (p.Gly605Val)
|
|
|
|
NM_001035.3(RYR2):c.1818A>C (p.Arg606Ser)
|
|
|
|
NM_001035.3(RYR2):c.1824C>T (p.His608=)
|
rs2150413338
|
|
|
NM_001035.3(RYR2):c.1827+11T>C
|
|
|
|
NM_001035.3(RYR2):c.1827+9_1827+12del
|
rs2150413372
|
|
|
NM_001035.3(RYR2):c.1828-12T>A
|
|
|
|
NM_001035.3(RYR2):c.1828-17G>A
|
|
|
|
NM_001035.3(RYR2):c.1828-19A>G
|
|
|
|
NM_001035.3(RYR2):c.1828-8C>G
|
|
|
|
NM_001035.3(RYR2):c.1832T>C (p.Leu611Pro)
|
rs794728726
|
|
|
NM_001035.3(RYR2):c.1837G>A (p.Val613Ile)
|
rs397516520
|
|
|
NM_001035.3(RYR2):c.1842G>T (p.Leu614Phe)
|
rs1227994309
|
|
|
NM_001035.3(RYR2):c.1844G>T (p.Cys615Phe)
|
rs748190200
|
|
|
NM_001035.3(RYR2):c.1847C>T (p.Ser616Leu)
|
rs730880187
|
|
|
NM_001035.3(RYR2):c.1848A>C (p.Ser616=)
|
|
|
|
NM_001035.3(RYR2):c.184C>T (p.Leu62Phe)
|
rs794728813
|
|
|
NM_001035.3(RYR2):c.1851C>T (p.Leu617=)
|
|
|
|
NM_001035.3(RYR2):c.1853G>T (p.Cys618Phe)
|
|
|
|
NM_001035.3(RYR2):c.1867G>C (p.Val623Leu)
|
|
|
|
NM_001035.3(RYR2):c.1870G>A (p.Ala624Thr)
|
rs1663584680
|
|
|
NM_001035.3(RYR2):c.1871C>T (p.Ala624Val)
|
rs878854153
|
|
|
NM_001035.3(RYR2):c.1877G>A (p.Arg626His)
|
|
|
|
NM_001035.3(RYR2):c.1880C>G (p.Ser627Cys)
|
|
|
|
NM_001035.3(RYR2):c.1888C>A (p.His630Asn)
|
rs1195734687
|
|
|
NM_001035.3(RYR2):c.1888C>T (p.His630Tyr)
|
|
|
|
NM_001035.3(RYR2):c.1894A>G (p.Ile632Val)
|
|
|
|
NM_001035.3(RYR2):c.1906C>A (p.Leu636Ile)
|
rs2150421908
|
|
|
NM_001035.3(RYR2):c.1908C>G (p.Leu636=)
|
|
|
|
NM_001035.3(RYR2):c.1918A>G (p.Arg640Gly)
|
rs886041109
|
|
|
NM_001035.3(RYR2):c.191T>G (p.Ile64Ser)
|
rs2149567963
|
|
|
NM_001035.3(RYR2):c.1921G>A (p.Asp641Asn)
|
|
|
|
NM_001035.3(RYR2):c.192C>T (p.Ile64=)
|
|
|
|
NM_001035.3(RYR2):c.1941del (p.Leu648_Val649insTer)
|
|
|
|
NM_001035.3(RYR2):c.1944T>C (p.Leu648=)
|
|
|
|
NM_001035.3(RYR2):c.1945G>T (p.Val649Leu)
|
rs1663593146
|
|
|
NM_001035.3(RYR2):c.1946T>C (p.Val649Ala)
|
|
|
|
NM_001035.3(RYR2):c.1947G>A (p.Val649=)
|
rs1663593634
|
|
|
NM_001035.3(RYR2):c.1953T>C (p.His651=)
|
rs1663595328
|
|
|
NM_001035.3(RYR2):c.195C>T (p.Cys65=)
|
|
|
|
NM_001035.3(RYR2):c.1961+15A>G
|
|
|
|
NM_001035.3(RYR2):c.1961+16C>T
|
rs756259197
|
|
|
NM_001035.3(RYR2):c.1961+18A>G
|
|
|
|
NM_001035.3(RYR2):c.1962-7T>C
|
|
|
|
NM_001035.3(RYR2):c.1962C>T (p.Ser654=)
|
rs1664091413
|
|
|
NM_001035.3(RYR2):c.1964T>C (p.Met655Thr)
|
rs1664091907
|
|
|
NM_001035.3(RYR2):c.1974T>C (p.Asn658=)
|
|
|
|
NM_001035.3(RYR2):c.1988T>C (p.Val663Ala)
|
rs372837858
|
|
|
NM_001035.3(RYR2):c.19G>A (p.Gly7Ser)
|
rs779910353
|
|
|
NM_001035.3(RYR2):c.2000C>G (p.Ser667Cys)
|
|
|
|
NM_001035.3(RYR2):c.2009A>G (p.Tyr670Cys)
|
rs571828296
|
|
|
NM_001035.3(RYR2):c.2010_2011del (p.Tyr670_Lys671delinsTer)
|
rs1664096446
|
|
|
NM_001035.3(RYR2):c.2011A>G (p.Lys671Glu)
|
rs1664097353
|
|
|
NM_001035.3(RYR2):c.2013G>A (p.Lys671=)
|
rs1192622030
|
|
|
NM_001035.3(RYR2):c.2016A>G (p.Lys672=)
|
|
|
|
NM_001035.3(RYR2):c.2017T>C (p.Trp673Arg)
|
|
|
|
NM_001035.3(RYR2):c.2024A>G (p.Tyr675Cys)
|
|
|
|
NM_001035.3(RYR2):c.2028A>G (p.Glu676=)
|
|
|
|
NM_001035.3(RYR2):c.202G>C (p.Val68Leu)
|
|
|
|
NM_001035.3(RYR2):c.2042A>G (p.His681Arg)
|
rs1344581490
|
|
|
NM_001035.3(RYR2):c.2056G>A (p.Val686Met)
|
rs1060500139
|
|
|
NM_001035.3(RYR2):c.2057T>G (p.Val686Gly)
|
rs1664102967
|
|
|
NM_001035.3(RYR2):c.205C>T (p.Leu69=)
|
|
|
|
NM_001035.3(RYR2):c.2068G>A (p.Ala690Thr)
|
rs2150448340
|
|
|
NM_001035.3(RYR2):c.2076C>T (p.His692=)
|
rs1282880190
|
|
|
NM_001035.3(RYR2):c.2080C>G (p.Arg694Gly)
|
|
|
|
NM_001035.3(RYR2):c.2080C>T (p.Arg694Ter)
|
|
|
|
NM_001035.3(RYR2):c.2094T>C (p.Ala698=)
|
rs1572596285
|
|
|
NM_001035.3(RYR2):c.2097C>T (p.Ser699=)
|
rs2150448554
|
|
|
NM_001035.3(RYR2):c.2109T>C (p.Tyr703=)
|
|
|
|
NM_001035.3(RYR2):c.210G>A (p.Glu70=)
|
|
|
|
NM_001035.3(RYR2):c.2116T>C (p.Tyr706His)
|
|
|
|
NM_001035.3(RYR2):c.2117A>G (p.Tyr706Cys)
|
rs1664107169
|
|
|
NM_001035.3(RYR2):c.2118C>T (p.Tyr706=)
|
rs1431902945
|
|
|
NM_001035.3(RYR2):c.2122G>A (p.Gly708Arg)
|
rs1235629482
|
|
|
NM_001035.3(RYR2):c.2129G>T (p.Gly710Val)
|
rs926435910
|
|
|
NM_001035.3(RYR2):c.2138G>C (p.Trp713Ser)
|
rs1553473238
|
|
|
NM_001035.3(RYR2):c.2139G>A (p.Trp713Ter)
|
rs2150449007
|
|
|
NM_001035.3(RYR2):c.2141G>A (p.Gly714Asp)
|
|
|
|
NM_001035.3(RYR2):c.2145A>T (p.Gly715=)
|
rs764163453
|
|
|
NM_001035.3(RYR2):c.2148T>C (p.Asn716=)
|
rs1572596625
|
|
|
NM_001035.3(RYR2):c.2159A>G (p.Asp720Gly)
|
|
|
|
NM_001035.3(RYR2):c.215C>A (p.Ser72Tyr)
|
rs1696644532
|
|
|
NM_001035.3(RYR2):c.2190T>C (p.Leu730=)
|
rs991873417
|
|
|
NM_001035.3(RYR2):c.21C>A (p.Gly7=)
|
|
|
|
NM_001035.3(RYR2):c.2201C>G (p.Ser734Ter)
|
|
|
|
NM_001035.3(RYR2):c.2203+5G>A
|
rs766288440
|
|
|
NM_001035.3(RYR2):c.2203G>C (p.Gly735Arg)
|
rs1442111387
|
|
|
NM_001035.3(RYR2):c.2204-10C>A
|
rs886046264
|
|
|
NM_001035.3(RYR2):c.2204-10C>T
|
rs886046264
|
|
|
NM_001035.3(RYR2):c.2204-11C>A
|
|
|
|
NM_001035.3(RYR2):c.2204-14T>C
|
rs767973692
|
|
|
NM_001035.3(RYR2):c.2204-15T>C
|
rs1010022959
|
|
|
NM_001035.3(RYR2):c.2204-17dup
|
|
|
|
NM_001035.3(RYR2):c.2204-8C>T
|
|
|
|
NM_001035.3(RYR2):c.2217T>C (p.Arg739=)
|
|
|
|
NM_001035.3(RYR2):c.2220T>C (p.Thr740=)
|
|
|
|
NM_001035.3(RYR2):c.2225G>A (p.Ser742Asn)
|
|
|
|
NM_001035.3(RYR2):c.223G>A (p.Val75Ile)
|
rs868504232
|
|
|
NM_001035.3(RYR2):c.2246T>G (p.Leu749Ter)
|
|
|
|
NM_001035.3(RYR2):c.224T>C (p.Val75Ala)
|
rs2149568182
|
|
|
NM_001035.3(RYR2):c.2252C>T (p.Thr751Ile)
|
|
|
|
NM_001035.3(RYR2):c.2253T>A (p.Thr751=)
|
|
|
|
NM_001035.3(RYR2):c.2263A>G (p.Ile755Val)
|
rs1553474585
|
|
|
NM_001035.3(RYR2):c.2263A>T (p.Ile755Phe)
|
|
|
|
NM_001035.3(RYR2):c.2275T>G (p.Leu759Val)
|
rs768063536
|
|
|
NM_001035.3(RYR2):c.227G>A (p.Arg76Gln)
|
rs1696646305
|
|
|
NM_001035.3(RYR2):c.227G>C (p.Arg76Pro)
|
rs1696646305
|
|
|
NM_001035.3(RYR2):c.2288C>A (p.Ala763Asp)
|
|
|
|
NM_001035.3(RYR2):c.2288C>T (p.Ala763Val)
|
rs1664552898
|
|
|
NM_001035.3(RYR2):c.2293A>C (p.Ser765Arg)
|
rs748603282
|
|
|
NM_001035.3(RYR2):c.2301G>A (p.Ser767=)
|
rs117588730
|
|
|
NM_001035.3(RYR2):c.2301G>C (p.Ser767=)
|
|
|
|
NM_001035.3(RYR2):c.2305C>G (p.Arg769Gly)
|
|
|
|
NM_001035.3(RYR2):c.2306G>T (p.Arg769Leu)
|
rs754901791
|
|
|
NM_001035.3(RYR2):c.230C>T (p.Ala77Val)
|
rs1060500142
|
|
|
NM_001035.3(RYR2):c.2328A>G (p.Gln776=)
|
|
|
|
NM_001035.3(RYR2):c.2331A>G (p.Gly777=)
|
|
|
|
NM_001035.3(RYR2):c.2332A>G (p.Met778Val)
|
rs1553474619
|
|
|
NM_001035.3(RYR2):c.2348A>G (p.Asn783Ser)
|
|
|
|
NM_001035.3(RYR2):c.2349C>T (p.Asn783=)
|
rs749506479
|
|
|
NM_001035.3(RYR2):c.2350A>G (p.Ile784Val)
|
rs794728729
|
|
|
NM_001035.3(RYR2):c.2353G>A (p.Asp785Asn)
|
rs774486571
|
|
|
NM_001035.3(RYR2):c.2359C>G (p.Leu787Val)
|
|
|
|
NM_001035.3(RYR2):c.2362T>C (p.Phe788Leu)
|
|
|
|
NM_001035.3(RYR2):c.2367T>C (p.Phe789=)
|
|
|
|
NM_001035.3(RYR2):c.2373C>A (p.Val791=)
|
rs770431899
|
|
|
NM_001035.3(RYR2):c.2392A>G (p.Ile798Val)
|
|
|
|
NM_001035.3(RYR2):c.2396+12T>A
|
rs876657576
|
|
|
NM_001035.3(RYR2):c.2396+12T>C
|
|
|
|
NM_001035.3(RYR2):c.2396+15G>A
|
|
|
|
NM_001035.3(RYR2):c.2396+7A>C
|
rs992293461
|
|
|
NM_001035.3(RYR2):c.2396+7A>G
|
|
|
|
NM_001035.3(RYR2):c.2396+9G>A
|
|
|
|
NM_001035.3(RYR2):c.2396+9G>T
|
rs1572614163
|
|
|
NM_001035.3(RYR2):c.2397-11A>G
|
|
|
|
NM_001035.3(RYR2):c.2397-15G>A
|
|
|
|
NM_001035.3(RYR2):c.2397-20C>G
|
|
|
|
NM_001035.3(RYR2):c.2397A>C (p.Lys799Asn)
|
rs1558931160
|
|
|
NM_001035.3(RYR2):c.2398G>A (p.Val800Ile)
|
|
|
|
NM_001035.3(RYR2):c.2399T>C (p.Val800Ala)
|
rs794728730
|
|
|
NM_001035.3(RYR2):c.239A>G (p.Glu80Gly)
|
rs794728706
|
|
|
NM_001035.3(RYR2):c.2401C>A (p.Arg801Ser)
|
rs940667860
|
|
|
NM_001035.3(RYR2):c.2401C>T (p.Arg801Cys)
|
rs940667860
|
|
|
NM_001035.3(RYR2):c.2409G>A (p.Leu803=)
|
|
|
|
NM_001035.3(RYR2):c.2418G>A (p.Gly806=)
|
rs1572625120
|
|
|
NM_001035.3(RYR2):c.2422C>T (p.His808Tyr)
|
rs1263859453
|
|
|
NM_001035.3(RYR2):c.2426G>A (p.Gly809Glu)
|
rs1060500140
|
|
|
NM_001035.3(RYR2):c.2430A>C (p.Glu810Asp)
|
|
|
|
NM_001035.3(RYR2):c.2435A>G (p.Lys812Arg)
|
rs779155482
|
|
|
NM_001035.3(RYR2):c.2440C>A (p.Leu814Ile)
|
|
|
|
NM_001035.3(RYR2):c.2449C>G (p.Pro817Ala)
|
rs780266883
|
|
|
NM_001035.3(RYR2):c.244C>T (p.Leu82=)
|
rs572934844
|
|
|
NM_001035.3(RYR2):c.2451T>G (p.Pro817=)
|
rs1664864797
|
|
|
NM_001035.3(RYR2):c.2454G>A (p.Gly818=)
|
rs769137517
|
|
|
NM_001035.3(RYR2):c.2454G>T (p.Gly818=)
|
rs769137517
|
|
|
NM_001035.3(RYR2):c.2468A>T (p.Tyr823Phe)
|
rs759178071
|
|
|
NM_001035.3(RYR2):c.246G>A (p.Leu82=)
|
|
|
|
NM_001035.3(RYR2):c.2482C>T (p.Pro828Ser)
|
rs794728698
|
|
|
NM_001035.3(RYR2):c.2502G>A (p.Val834=)
|
|
|
|
NM_001035.3(RYR2):c.2510G>C (p.Ser837Thr)
|
rs375607964
|
|
|
NM_001035.3(RYR2):c.2512C>T (p.Arg838Ter)
|
|
|
|
NM_001035.3(RYR2):c.2513G>T (p.Arg838Leu)
|
rs764043352
|
|
|
NM_001035.3(RYR2):c.2520C>T (p.Tyr840=)
|
rs1553475643
|
|
|
NM_001035.3(RYR2):c.2527G>C (p.Glu843Gln)
|
|
|
|
NM_001035.3(RYR2):c.2536T>C (p.Tyr846His)
|
|
|
|
NM_001035.3(RYR2):c.2547C>T (p.Asp849=)
|
rs780283100
|
|
|
NM_001035.3(RYR2):c.2548C>T (p.Leu850=)
|
|
|
|
NM_001035.3(RYR2):c.254C>A (p.Thr85Asn)
|
rs772005577
|
|
|
NM_001035.3(RYR2):c.254C>T (p.Thr85Ile)
|
rs772005577
|
|
|
NM_001035.3(RYR2):c.2561C>T (p.Thr854Ile)
|
rs1060500163
|
|
|
NM_001035.3(RYR2):c.2562A>C (p.Thr854=)
|
rs727503398
|
|
|
NM_001035.3(RYR2):c.2562A>T (p.Thr854=)
|
|
|
|
NM_001035.3(RYR2):c.2566T>C (p.Ser856Pro)
|
|
|
|
NM_001035.3(RYR2):c.2566T>G (p.Ser856Ala)
|
|
|
|
NM_001035.3(RYR2):c.258G>A (p.Val86=)
|
rs780635739
|
|
|
NM_001035.3(RYR2):c.2594T>A (p.Ile865Asn)
|
rs2150494586
|
|
|
NM_001035.3(RYR2):c.2600T>C (p.Val867Ala)
|
|
|
|
NM_001035.3(RYR2):c.2601G>A (p.Val867=)
|
rs1664878565
|
|
|
NM_001035.3(RYR2):c.2611C>G (p.Gln871Glu)
|
rs2150494702
|
|
|
NM_001035.3(RYR2):c.2613+10T>G
|
rs1664881012
|
|
|
NM_001035.3(RYR2):c.2613+11C>A
|
rs117018661
|
|
|
NM_001035.3(RYR2):c.2613+17G>A
|
|
|
|
NM_001035.3(RYR2):c.2613+20T>C
|
|
|
|
NM_001035.3(RYR2):c.2613+4C>T
|
|
|
|
NM_001035.3(RYR2):c.2613+5_2613+6insTTGC
|
rs747260754
|
|
|
NM_001035.3(RYR2):c.2613+8G>A
|
rs776678807
|
|
|
NM_001035.3(RYR2):c.2614-6T>C
|
|
|
|
NM_001035.3(RYR2):c.2616C>A (p.Ile872=)
|
|
|
|
NM_001035.3(RYR2):c.2617G>C (p.Val873Leu)
|
rs369248015
|
|
|
NM_001035.3(RYR2):c.2626C>T (p.Pro876Ser)
|
|
|
|
NM_001035.3(RYR2):c.2631T>A (p.His877Gln)
|
rs1050687513
|
|
|
NM_001035.3(RYR2):c.2641A>G (p.Ile881Val)
|
rs773162223
|
|
|
NM_001035.3(RYR2):c.2657C>T (p.Ala886Val)
|
|
|
|
NM_001035.3(RYR2):c.2667C>T (p.Ile889=)
|
|
|
|
NM_001035.3(RYR2):c.267A>G (p.Ser89=)
|
|
|
|
NM_001035.3(RYR2):c.2680G>A (p.Val894Ile)
|
|
|
|
NM_001035.3(RYR2):c.2707C>G (p.Gln903Glu)
|
|
|
|
NM_001035.3(RYR2):c.2716C>G (p.Pro906Ala)
|
rs754520058
|
|
|
NM_001035.3(RYR2):c.2718+20A>G
|
|
|
|
NM_001035.3(RYR2):c.2718+5G>A
|
|
|
|
NM_001035.3(RYR2):c.2718+6T>C
|
rs1416205366
|
|
|
NM_001035.3(RYR2):c.2718G>A (p.Pro906=)
|
rs1164077324
|
|
|
NM_001035.3(RYR2):c.2719-16T>A
|
|
|
|
NM_001035.3(RYR2):c.2719-18T>A
|
|
|
|
NM_001035.3(RYR2):c.2719-4T>G
|
rs397516523
|
|
|
NM_001035.3(RYR2):c.2719G>C (p.Val907Leu)
|
|
|
|
NM_001035.3(RYR2):c.273+5G>A
|
|
|
|
NM_001035.3(RYR2):c.2733C>T (p.Asn911=)
|
rs1665914586
|
|
|
NM_001035.3(RYR2):c.2736G>A (p.Lys912=)
|
|
|
|
NM_001035.3(RYR2):c.274-13T>C
|
|
|
|
NM_001035.3(RYR2):c.274-5C>A
|
rs768394710
|
|
|
NM_001035.3(RYR2):c.274-5C>G
|
rs768394710
|
|
|
NM_001035.3(RYR2):c.2747C>T (p.Pro916Leu)
|
|
|
|
NM_001035.3(RYR2):c.2748A>G (p.Pro916=)
|
rs2147767600
|
|
|
NM_001035.3(RYR2):c.274C>T (p.Gln92Ter)
|
rs2149691837
|
|
|
NM_001035.3(RYR2):c.2753T>C (p.Leu918Pro)
|
rs2147767632
|
|
|
NM_001035.3(RYR2):c.2764T>A (p.Ser922Thr)
|
|
|
|
NM_001035.3(RYR2):c.2765C>G (p.Ser922Cys)
|
rs1558945798
|
|
|
NM_001035.3(RYR2):c.2770C>T (p.Leu924=)
|
rs754678409
|
|
|
NM_001035.3(RYR2):c.2772G>T (p.Leu924=)
|
rs780664060
|
|
|
NM_001035.3(RYR2):c.2781G>A (p.Gln927=)
|
|
|
|
NM_001035.3(RYR2):c.2785C>G (p.Arg929Gly)
|
rs528906699
|
|
|
NM_001035.3(RYR2):c.2785C>T (p.Arg929Cys)
|
|
|
|
NM_001035.3(RYR2):c.279T>A (p.Val93=)
|
rs1037732490
|
|
|
NM_001035.3(RYR2):c.27C>T (p.Asp9=)
|
|
|
|
NM_001035.3(RYR2):c.2804T>C (p.Met935Thr)
|
rs1665922680
|
|
|
NM_001035.3(RYR2):c.2805G>A (p.Met935Ile)
|
rs727505044
|
|
|
NM_001035.3(RYR2):c.2807C>T (p.Ser936Leu)
|
rs1295898396
|
|
|
NM_001035.3(RYR2):c.2808G>T (p.Ser936=)
|
rs1057521205
|
|
|
NM_001035.3(RYR2):c.2811T>A (p.Leu937=)
|
|
|
|
NM_001035.3(RYR2):c.281A>G (p.Asp94Gly)
|
|
|
|
NM_001035.3(RYR2):c.281A>T (p.Asp94Val)
|
rs876657989
|
|
|
NM_001035.3(RYR2):c.2822+19T>C
|
|
|
|
NM_001035.3(RYR2):c.2822+9C>T
|
rs2893574
|
|
|
NM_001035.3(RYR2):c.2823-19C>G
|
|
|
|
NM_001035.3(RYR2):c.2823-20T>C
|
|
|
|
NM_001035.3(RYR2):c.2823-4C>T
|
|
|
|
NM_001035.3(RYR2):c.2832G>A (p.Leu944=)
|
rs2147939984
|
|
|
NM_001035.3(RYR2):c.2835A>C (p.Ala945=)
|
rs1362472908
|
|
|
NM_001035.3(RYR2):c.2841A>G (p.Gly947=)
|
|
|
|
NM_001035.3(RYR2):c.2843G>C (p.Cys948Ser)
|
rs1260308629
|
|
|
NM_001035.3(RYR2):c.2848G>T (p.Val950Leu)
|
rs794728731
|
|
|
NM_001035.3(RYR2):c.2854A>G (p.Ile952Val)
|
rs1668033659
|
|
|
NM_001035.3(RYR2):c.2868T>C (p.His956=)
|
|
|
|
NM_001035.3(RYR2):c.2868T>G (p.His956Gln)
|
rs1553486453
|
|
|
NM_001035.3(RYR2):c.2871T>C (p.Ala957=)
|
rs771821687
|
|
|
NM_001035.3(RYR2):c.2877C>A (p.Asp959Glu)
|
rs1042196921
|
|
|
NM_001035.3(RYR2):c.2878A>G (p.Lys960Glu)
|
|
|
|
NM_001035.3(RYR2):c.2884A>G (p.Lys962Glu)
|
rs1668037094
|
|
|
NM_001035.3(RYR2):c.2886A>G (p.Lys962=)
|
rs2147940587
|
|
|
NM_001035.3(RYR2):c.2889A>C (p.Lys963Asn)
|
|
|
|
NM_001035.3(RYR2):c.2895G>A (p.Lys965=)
|
|
|
|
NM_001035.3(RYR2):c.2899C>T (p.Pro967Ser)
|
rs1558977048
|
|
|
NM_001035.3(RYR2):c.2901C>G (p.Pro967=)
|
rs747234013
|
|
|
NM_001035.3(RYR2):c.2901C>T (p.Pro967=)
|
rs747234013
|
|
|
NM_001035.3(RYR2):c.2906+11T>A
|
|
|
|
NM_001035.3(RYR2):c.2906+13A>C
|
|
|
|
NM_001035.3(RYR2):c.2906+6T>C
|
|
|
|
NM_001035.3(RYR2):c.2907-15G>A
|
|
|
|
NM_001035.3(RYR2):c.2907-1G>A
|
rs111843122
|
|
|
NM_001035.3(RYR2):c.2908T>A (p.Tyr970Asn)
|
|
|
|
NM_001035.3(RYR2):c.2910C>T (p.Tyr970=)
|
rs575899061
|
|
|
NM_001035.3(RYR2):c.2920A>G (p.Ser974Gly)
|
|
|
|
NM_001035.3(RYR2):c.2921G>T (p.Ser974Ile)
|
|
|
|
NM_001035.3(RYR2):c.292del (p.Trp98fs)
|
rs2149691982
|
|
|
NM_001035.3(RYR2):c.2930A>G (p.Lys977Arg)
|
|
|
|
NM_001035.3(RYR2):c.2930A>T (p.Lys977Met)
|
rs1670046069
|
|
|
NM_001035.3(RYR2):c.2932C>G (p.Pro978Ala)
|
|
|
|
NM_001035.3(RYR2):c.294+5G>A
|
rs1699261815
|
|
|
NM_001035.3(RYR2):c.294+8T>A
|
rs2149692036
|
|
|
NM_001035.3(RYR2):c.2941A>C (p.Met981Leu)
|
|
|
|
NM_001035.3(RYR2):c.2944G>A (p.Asp982Asn)
|
rs1670048030
|
|
|
NM_001035.3(RYR2):c.295-3C>T
|
|
|
|
NM_001035.3(RYR2):c.295-9C>A
|
|
|
|
NM_001035.3(RYR2):c.2958C>T (p.Ile986=)
|
|
|
|
NM_001035.3(RYR2):c.2964C>T (p.Leu988=)
|
rs202085370
|
|
|
NM_001035.3(RYR2):c.2969C>A (p.Pro990Gln)
|
rs912594681
|
|
|
NM_001035.3(RYR2):c.2971T>A (p.Ser991Thr)
|
|
|
|
NM_001035.3(RYR2):c.2972_2973inv (p.Ser991Leu)
|
|
|
|
NM_001035.3(RYR2):c.2973A>C (p.Ser991=)
|
|
|
|
NM_001035.3(RYR2):c.2973A>T (p.Ser991=)
|
rs2253273
|
|
|
NM_001035.3(RYR2):c.2990A>G (p.Asp997Gly)
|
rs2148090472
|
|
|
NM_001035.3(RYR2):c.2991C>G (p.Asp997Glu)
|
rs2148090488
|
|
|
NM_001035.3(RYR2):c.2998G>T (p.Ala1000Ser)
|
|
|
|
NM_001035.3(RYR2):c.2999C>T (p.Ala1000Val)
|
|
|
|
NM_001035.3(RYR2):c.29A>C (p.Glu10Ala)
|
rs1027423344
|
|
|
NM_001035.3(RYR2):c.3005A>C (p.Asn1002Thr)
|
rs1559008003
|
|
|
NM_001035.3(RYR2):c.300C>A (p.Phe100Leu)
|
rs2149727101
|
|
|
NM_001035.3(RYR2):c.3023C>A (p.Ala1008Glu)
|
rs1232224119
|
|
|
NM_001035.3(RYR2):c.3023C>T (p.Ala1008Val)
|
rs1232224119
|
|
|
NM_001035.3(RYR2):c.3026G>C (p.Arg1009Pro)
|
rs754812132
|
|
|
NM_001035.3(RYR2):c.3028G>T (p.Asp1010Tyr)
|
rs780949229
|
|
|
NM_001035.3(RYR2):c.3029A>T (p.Asp1010Val)
|
|
|
|
NM_001035.3(RYR2):c.3038G>T (p.Arg1013Leu)
|
rs149514924
|
|
|
NM_001035.3(RYR2):c.3039G>A (p.Arg1013=)
|
rs1481647853
|
|
|
NM_001035.3(RYR2):c.3045C>T (p.Gly1015=)
|
rs1405734932
|
|
|
NM_001035.3(RYR2):c.3050C>T (p.Thr1017Ile)
|
|
|
|
NM_001035.3(RYR2):c.3063A>G (p.Gln1021=)
|
|
|
|
NM_001035.3(RYR2):c.3065A>G (p.Gln1022Arg)
|
rs761384379
|
|
|
NM_001035.3(RYR2):c.3066+12T>A
|
rs772628091
|
|
|
NM_001035.3(RYR2):c.3066+13T>C
|
rs2148091810
|
|
|
NM_001035.3(RYR2):c.3066+15G>A
|
|
|
|
NM_001035.3(RYR2):c.3066+5A>G
|
rs1346060761
|
|
|
NM_001035.3(RYR2):c.3067-17C>T
|
|
|
|
NM_001035.3(RYR2):c.3067-20C>T
|
|
|
|
NM_001035.3(RYR2):c.3067G>A (p.Asp1023Asn)
|
|
|
|
NM_001035.3(RYR2):c.3070G>A (p.Val1024Ile)
|
rs1291873158
|
|
|
NM_001035.3(RYR2):c.309+10C>T
|
|
|
|
NM_001035.3(RYR2):c.309+18A>T
|
|
|
|
NM_001035.3(RYR2):c.309+5G>T
|
rs794728695
|
|
|
NM_001035.3(RYR2):c.309+9_309+13del
|
rs779631412
|
|
|
NM_001035.3(RYR2):c.3091C>T (p.Arg1031Cys)
|
|
|
|
NM_001035.3(RYR2):c.3092G>A (p.Arg1031His)
|
|
|
|
NM_001035.3(RYR2):c.3107C>G (p.Thr1036Ser)
|
|
|
|
NM_001035.3(RYR2):c.3107C>T (p.Thr1036Ile)
|
|
|
|
NM_001035.3(RYR2):c.3109C>G (p.Leu1037Val)
|
rs762576802
|
|
|
NM_001035.3(RYR2):c.310A>T (p.Thr104Ser)
|
rs1060500155
|
|
|
NM_001035.3(RYR2):c.3116A>G (p.Asp1039Gly)
|
|
|
|
NM_001035.3(RYR2):c.3122G>A (p.Arg1041Gln)
|
rs773781713
|
|
|
NM_001035.3(RYR2):c.312T>C (p.Thr104=)
|
|
|
|
NM_001035.3(RYR2):c.3148C>T (p.Leu1050Phe)
|
rs1572837868
|
|
|
NM_001035.3(RYR2):c.3152G>T (p.Arg1051Leu)
|
|
|
|
NM_001035.3(RYR2):c.3182G>C (p.Gly1061Ala)
|
rs373083911
|
|
|
NM_001035.3(RYR2):c.3185A>G (p.Tyr1062Cys)
|
rs1572838155
|
|
|
NM_001035.3(RYR2):c.3206A>G (p.Gln1069Arg)
|
|
|
|
NM_001035.3(RYR2):c.3208G>C (p.Asp1070His)
|
rs1670298968
|
|
|
NM_001035.3(RYR2):c.3214+14A>C
|
|
|
|
NM_001035.3(RYR2):c.3214+19C>T
|
|
|
|
NM_001035.3(RYR2):c.3214+20C>A
|
|
|
|
NM_001035.3(RYR2):c.3214+9G>C
|
|
|
|
NM_001035.3(RYR2):c.3215-11C>G
|
rs1340446563
|
|
|
NM_001035.3(RYR2):c.3215-13G>C
|
|
|
|
NM_001035.3(RYR2):c.3215-14T>C
|
rs1672104473
|
|
|
NM_001035.3(RYR2):c.3215-15_3215-14del
|
|
|
|
NM_001035.3(RYR2):c.3215-5C>T
|
|
|
|
NM_001035.3(RYR2):c.3215-9A>G
|
|
|
|
NM_001035.3(RYR2):c.3215C>G (p.Ala1072Gly)
|
rs1321772491
|
|
|
NM_001035.3(RYR2):c.3219C>T (p.Ala1073=)
|
rs2148251416
|
|
|
NM_001035.3(RYR2):c.3230T>G (p.Val1077Gly)
|
|
|
|
NM_001035.3(RYR2):c.3232T>C (p.Cys1078Arg)
|
|
|
|
NM_001035.3(RYR2):c.3246G>A (p.Gly1082=)
|
rs1672110603
|
|
|
NM_001035.3(RYR2):c.3248A>G (p.Glu1083Gly)
|
|
|
|
NM_001035.3(RYR2):c.3257G>A (p.Arg1086Gln)
|
rs749566870
|
|
|
NM_001035.3(RYR2):c.3261C>A (p.Ile1087=)
|
|
|
|
NM_001035.3(RYR2):c.3265C>T (p.Arg1089Cys)
|
rs879255350
|
|
|
NM_001035.3(RYR2):c.3267T>C (p.Arg1089=)
|
rs761738779
|
|
|
NM_001035.3(RYR2):c.326G>A (p.Gly109Asp)
|
rs1572014527
|
|
|
NM_001035.3(RYR2):c.3270C>A (p.Ala1090=)
|
rs1344074824
|
|
|
NM_001035.3(RYR2):c.3270C>T (p.Ala1090=)
|
rs1344074824
|
|
|
NM_001035.3(RYR2):c.3277A>C (p.Thr1093Pro)
|
rs1672114573
|
|
|
NM_001035.3(RYR2):c.3281A>G (p.Tyr1094Cys)
|
|
|
|
NM_001035.3(RYR2):c.3286G>A (p.Val1096Met)
|
rs1386531236
|
|
|
NM_001035.3(RYR2):c.3289A>G (p.Lys1097Glu)
|
rs1553504083
|
|
|
NM_001035.3(RYR2):c.3292G>T (p.Ala1098Ser)
|
rs2148252279
|
|
|
NM_001035.3(RYR2):c.3293C>T (p.Ala1098Val)
|
rs1318943750
|
|
|
NM_001035.3(RYR2):c.3298C>A (p.Arg1100=)
|
rs1411654663
|
|
|
NM_001035.3(RYR2):c.3298C>T (p.Arg1100Trp)
|
|
|
|
NM_001035.3(RYR2):c.3299G>A (p.Arg1100Gln)
|
|
|
|
NM_001035.3(RYR2):c.3304T>G (p.Tyr1102Asp)
|
rs2148252443
|
|
|
NM_001035.3(RYR2):c.3321G>A (p.Thr1107=)
|
rs377716608
|
|
|
NM_001035.3(RYR2):c.3321G>C (p.Thr1107=)
|
rs377716608
|
|
|
NM_001035.3(RYR2):c.3324C>T (p.Val1108=)
|
|
|
|
NM_001035.3(RYR2):c.3326C>G (p.Thr1109Ser)
|
rs2148252557
|
|
|
NM_001035.3(RYR2):c.332G>A (p.Arg111Gln)
|
|
|
|
NM_001035.3(RYR2):c.3332G>C (p.Gly1111Ala)
|
|
|
|
NM_001035.3(RYR2):c.3343G>A (p.Val1115Ile)
|
|
|
|
NM_001035.3(RYR2):c.3347G>T (p.Gly1116Val)
|
|
|
|
NM_001035.3(RYR2):c.3348T>C (p.Gly1116=)
|
|
|
|
NM_001035.3(RYR2):c.3351G>A (p.Trp1117Ter)
|
rs1672122070
|
|
|
NM_001035.3(RYR2):c.3358C>T (p.Pro1120Ser)
|
rs1331533259
|
|
|
NM_001035.3(RYR2):c.3360T>C (p.Pro1120=)
|
rs2148252894
|
|
|
NM_001035.3(RYR2):c.3361G>A (p.Gly1121Ser)
|
|
|
|
NM_001035.3(RYR2):c.3366T>C (p.Cys1122=)
|
rs2148252969
|
|
|
NM_001035.3(RYR2):c.3370C>T (p.Pro1124Ser)
|
rs2148253003
|
|
|
NM_001035.3(RYR2):c.3371C>A (p.Pro1124Gln)
|
rs779640835
|
|
|
NM_001035.3(RYR2):c.3371C>T (p.Pro1124Leu)
|
rs779640835
|
|
|
NM_001035.3(RYR2):c.3382C>G (p.Leu1128Val)
|
|
|
|
NM_001035.3(RYR2):c.3394G>C (p.Glu1132Gln)
|
|
|
|
NM_001035.3(RYR2):c.3397C>G (p.Arg1133Gly)
|
rs748085424
|
|
|
NM_001035.3(RYR2):c.3398G>A (p.Arg1133His)
|
rs374397612
|
|
|
NM_001035.3(RYR2):c.3401C>A (p.Ala1134Asp)
|
|
|
|
NM_001035.3(RYR2):c.3401C>G (p.Ala1134Gly)
|
rs1319844305
|
|
|
NM_001035.3(RYR2):c.3414T>A (p.Asp1138Glu)
|
rs763881346
|
|
|
NM_001035.3(RYR2):c.3414T>G (p.Asp1138Glu)
|
rs763881346
|
|
|
NM_001035.3(RYR2):c.3421A>C (p.Lys1141Gln)
|
|
|
|
NM_001035.3(RYR2):c.3423+2T>C
|
rs2148253549
|
|
|
NM_001035.3(RYR2):c.3423+5G>A
|
|
|
|
NM_001035.3(RYR2):c.3424-19T>A
|
|
|
|
NM_001035.3(RYR2):c.3424-6G>C
|
rs1672398208
|
|
|
NM_001035.3(RYR2):c.3430C>T (p.Arg1144Trp)
|
|
|
|
NM_001035.3(RYR2):c.3432G>A (p.Arg1144=)
|
rs764547857
|
|
|
NM_001035.3(RYR2):c.3446A>G (p.Asn1149Ser)
|
rs1289440571
|
|
|
NM_001035.3(RYR2):c.344A>G (p.Tyr115Cys)
|
rs1558698334
|
|
|
NM_001035.3(RYR2):c.3459G>A (p.Gly1153=)
|
|
|
|
NM_001035.3(RYR2):c.3459G>T (p.Gly1153=)
|
|
|
|
NM_001035.3(RYR2):c.3460C>A (p.Arg1154Ser)
|
rs765617616
|
|
|
NM_001035.3(RYR2):c.3462C>T (p.Arg1154=)
|
|
|
|
NM_001035.3(RYR2):c.346G>A (p.Gly116Arg)
|
|
|
|
NM_001035.3(RYR2):c.3477C>T (p.Gly1159=)
|
rs780861754
|
|
|
NM_001035.3(RYR2):c.3481G>T (p.Val1161Phe)
|
|
|
|
NM_001035.3(RYR2):c.3482T>C (p.Val1161Ala)
|
rs2148275449
|
|
|
NM_001035.3(RYR2):c.3486G>A (p.Val1162=)
|
rs749237298
|
|
|
NM_001035.3(RYR2):c.3496G>A (p.Val1166Ile)
|
rs886046266
|
|
|
NM_001035.3(RYR2):c.349C>T (p.His117Tyr)
|
rs1057524592
|
|
|
NM_001035.3(RYR2):c.3502A>C (p.Met1168Leu)
|
|
|
|
NM_001035.3(RYR2):c.3502A>G (p.Met1168Val)
|
rs1217551741
|
|
|
NM_001035.3(RYR2):c.3508G>A (p.Glu1170Lys)
|
rs772236215
|
|
|
NM_001035.3(RYR2):c.350A>G (p.His117Arg)
|
|
|
|
NM_001035.3(RYR2):c.3515C>T (p.Thr1172Ile)
|
rs768755342
|
|
|
NM_001035.3(RYR2):c.3521T>G (p.Met1174Arg)
|
|
|
|
NM_001035.3(RYR2):c.3527C>T (p.Thr1176Ile)
|
|
|
|
NM_001035.3(RYR2):c.3529C>T (p.Leu1177=)
|
rs1386427245
|
|
|
NM_001035.3(RYR2):c.355A>G (p.Ile119Val)
|
rs1477582479
|
|
|
NM_001035.3(RYR2):c.3560G>T (p.Gly1187Val)
|
|
|
|
NM_001035.3(RYR2):c.3567A>G (p.Glu1189=)
|
rs368959706
|
|
|
NM_001035.3(RYR2):c.3568C>T (p.Leu1190=)
|
|
|
|
NM_001035.3(RYR2):c.3571G>A (p.Ala1191Thr)
|
|
|
|
NM_001035.3(RYR2):c.3585T>C (p.Phe1195=)
|
|
|
|
NM_001035.3(RYR2):c.3587A>T (p.Asp1196Val)
|
rs1672413818
|
|
|
NM_001035.3(RYR2):c.3588T>A (p.Asp1196Glu)
|
|
|
|
NM_001035.3(RYR2):c.3592G>T (p.Gly1198Cys)
|
|
|
|
NM_001035.3(RYR2):c.3596A>G (p.Asp1199Gly)
|
rs149760466
|
|
|
NM_001035.3(RYR2):c.3598+10C>G
|
|
|
|
NM_001035.3(RYR2):c.3598+10_3598+12del
|
rs757703672
|
|
|
NM_001035.3(RYR2):c.3598+11T>C
|
|
|
|
NM_001035.3(RYR2):c.3598+15T>G
|
rs2148276559
|
|
|
NM_001035.3(RYR2):c.3598+7C>T
|
rs1197179687
|
|
|
NM_001035.3(RYR2):c.3599-10_3599-9del
|
|
|
|
NM_001035.3(RYR2):c.3599-14T>C
|
|
|
|
NM_001035.3(RYR2):c.3599-16T>G
|
rs966962775
|
|
|
NM_001035.3(RYR2):c.3599-3C>A
|
|
|
|
NM_001035.3(RYR2):c.3599-9del
|
rs11331089
|
|
|
NM_001035.3(RYR2):c.3599-9dup
|
rs11331089
|
|
|
NM_001035.3(RYR2):c.3600A>T (p.Gly1200=)
|
rs2148430388
|
|
|
NM_001035.3(RYR2):c.3601T>G (p.Phe1201Val)
|
|
|
|
NM_001035.3(RYR2):c.3618C>A (p.Ser1206Arg)
|
|
|
|
NM_001035.3(RYR2):c.3620T>C (p.Leu1207Pro)
|
rs1674951536
|
|
|
NM_001035.3(RYR2):c.3625G>A (p.Val1209Met)
|
rs794728733
|
|
|
NM_001035.3(RYR2):c.3626T>C (p.Val1209Ala)
|
|
|
|
NM_001035.3(RYR2):c.3651T>C (p.Phe1217=)
|
|
|
|
NM_001035.3(RYR2):c.3658G>T (p.Asp1220Tyr)
|
rs753078642
|
|
|
NM_001035.3(RYR2):c.3659A>T (p.Asp1220Val)
|
|
|
|
NM_001035.3(RYR2):c.365G>T (p.Arg122Leu)
|
rs727503396
|
|
|
NM_001035.3(RYR2):c.3681C>T (p.Phe1227=)
|
rs2148430827
|
|
|
NM_001035.3(RYR2):c.3693C>T (p.Gly1231=)
|
|
|
|
NM_001035.3(RYR2):c.3698A>G (p.Gln1233Arg)
|
rs1674959238
|
|
|
NM_001035.3(RYR2):c.3704G>A (p.Gly1235Asp)
|
rs765263326
|
|
|
NM_001035.3(RYR2):c.3712C>T (p.Pro1238Ser)
|
|
|
|
NM_001035.3(RYR2):c.3726T>C (p.Asn1242=)
|
|
|
|
NM_001035.3(RYR2):c.3728C>T (p.Thr1243Ile)
|
rs2148431137
|
|
|
NM_001035.3(RYR2):c.3732C>T (p.Asn1244=)
|
rs1327517169
|
|
|
NM_001035.3(RYR2):c.375T>C (p.Tyr125=)
|
rs397516528
|
|
|
NM_001035.3(RYR2):c.3760A>G (p.Arg1254Gly)
|
rs748217122
|
|
|
NM_001035.3(RYR2):c.3761G>A (p.Arg1254Lys)
|
|
|
|
NM_001035.3(RYR2):c.3762G>A (p.Arg1254=)
|
|
|
|
NM_001035.3(RYR2):c.3762G>C (p.Arg1254Ser)
|
|
|
|
NM_001035.3(RYR2):c.3766C>A (p.Pro1256Thr)
|
rs769729405
|
|
|
NM_001035.3(RYR2):c.3794A>G (p.His1265Arg)
|
rs1674968448
|
|
|
NM_001035.3(RYR2):c.3795T>C (p.His1265=)
|
rs2148431580
|
|
|
NM_001035.3(RYR2):c.37T>C (p.Phe13Leu)
|
rs794728761
|
|
|
NM_001035.3(RYR2):c.3800A>G (p.His1267Arg)
|
|
|
|
NM_001035.3(RYR2):c.3800A>T (p.His1267Leu)
|
|
|
|
NM_001035.3(RYR2):c.3802A>G (p.Ile1268Val)
|
|
|
|
NM_001035.3(RYR2):c.3808-10C>G
|
|
|
|
NM_001035.3(RYR2):c.3808-16C>A
|
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|
NM_001035.3(RYR2):c.3808-16C>T
|
|
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|
NM_001035.3(RYR2):c.3808-4C>T
|
rs1675049564
|
|
|
NM_001035.3(RYR2):c.3808-5G>C
|
rs776405427
|
|
|
NM_001035.3(RYR2):c.3812C>T (p.Thr1271Ile)
|
|
|
|
NM_001035.3(RYR2):c.381C>T (p.Gly127=)
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|
|
|
NM_001035.3(RYR2):c.3834C>T (p.Asp1278=)
|
rs1553514916
|
|
|
NM_001035.3(RYR2):c.3838T>C (p.Ser1280Pro)
|
rs1208920889
|
|
|
NM_001035.3(RYR2):c.3839C>G (p.Ser1280Cys)
|
rs759424061
|
|
|
NM_001035.3(RYR2):c.384+14T>C
|
|
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|
NM_001035.3(RYR2):c.384+17T>G
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NM_001035.3(RYR2):c.384+19T>C
|
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NM_001035.3(RYR2):c.384+9G>T
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NM_001035.3(RYR2):c.3840C>A (p.Ser1280=)
|
rs752970338
|
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|
NM_001035.3(RYR2):c.3840C>T (p.Ser1280=)
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|
NM_001035.3(RYR2):c.3841C>G (p.Pro1281Ala)
|
rs2148436643
|
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|
NM_001035.3(RYR2):c.385-17G>C
|
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|
NM_001035.3(RYR2):c.385-18T>G
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NM_001035.3(RYR2):c.385-20A>T
|
rs2149782305
|
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|
NM_001035.3(RYR2):c.385-8C>T
|
rs529230897
|
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|
NM_001035.3(RYR2):c.385-9A>C
|
rs140998248
|
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|
NM_001035.3(RYR2):c.385-9A>G
|
rs140998248
|
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|
NM_001035.3(RYR2):c.3855C>G (p.Val1285=)
|
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|
NM_001035.3(RYR2):c.3864G>A (p.Lys1288=)
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NM_001035.3(RYR2):c.3890C>G (p.Thr1297Ser)
|
rs746350036
|
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|
NM_001035.3(RYR2):c.3894T>C (p.Asp1298=)
|
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|
NM_001035.3(RYR2):c.3896T>G (p.Ile1299Ser)
|
rs772551383
|
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|
NM_001035.3(RYR2):c.3897C>G (p.Ile1299Met)
|
rs747846327
|
|
|
NM_001035.3(RYR2):c.38T>G (p.Phe13Cys)
|
rs878854155
|
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|
NM_001035.3(RYR2):c.3900G>A (p.Met1300Ile)
|
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|
NM_001035.3(RYR2):c.3905A>T (p.Tyr1302Phe)
|
rs2148437157
|
|
|
NM_001035.3(RYR2):c.3908G>A (p.Arg1303His)
|
rs766670579
|
|
|
NM_001035.3(RYR2):c.390G>C (p.Leu130=)
|
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|
NM_001035.3(RYR2):c.3916A>G (p.Met1306Val)
|
rs767360469
|
|
|
NM_001035.3(RYR2):c.392G>A (p.Cys131Tyr)
|
rs747297455
|
|
|
NM_001035.3(RYR2):c.3949A>G (p.Thr1317Ala)
|
rs1553514981
|
|
|
NM_001035.3(RYR2):c.3952G>C (p.Val1318Leu)
|
rs1675068916
|
|
|
NM_001035.3(RYR2):c.3961G>A (p.Gly1321Arg)
|
rs2148437710
|
|
|
NM_001035.3(RYR2):c.3964C>G (p.Leu1322Val)
|
|
|
|
NM_001035.3(RYR2):c.3966C>G (p.Leu1322=)
|
rs1235181059
|
|
|
NM_001035.3(RYR2):c.396C>G (p.Cys132Trp)
|
|
|
|
NM_001035.3(RYR2):c.3971G>A (p.Gly1324Glu)
|
|
|
|
NM_001035.3(RYR2):c.3977G>A (p.Gly1326Asp)
|
rs1675072837
|
|
|
NM_001035.3(RYR2):c.3978C>T (p.Gly1326=)
|
rs745839967
|
|
|
NM_001035.3(RYR2):c.3980T>C (p.Leu1327Pro)
|
rs923667966
|
|
|
NM_001035.3(RYR2):c.3988C>T (p.Pro1330Ser)
|
rs1675074576
|
|
|
NM_001035.3(RYR2):c.3993G>C (p.Lys1331Asn)
|
|
|
|
NM_001035.3(RYR2):c.39C>G (p.Phe13Leu)
|
rs1660038687
|
|
|
NM_001035.3(RYR2):c.39C>T (p.Phe13=)
|
|
|
|
NM_001035.3(RYR2):c.4000T>G (p.Leu1334Val)
|
|
|
|
NM_001035.3(RYR2):c.400T>C (p.Ser134Pro)
|
|
|
|
NM_001035.3(RYR2):c.4012G>A (p.Asp1338Asn)
|
|
|
|
NM_001035.3(RYR2):c.4013A>T (p.Asp1338Val)
|
|
|
|
NM_001035.3(RYR2):c.4022_4023del (p.Asp1340_Ser1341insTer)
|
|
|
|
NM_001035.3(RYR2):c.404C>A (p.Thr135Asn)
|
|
|
|
NM_001035.3(RYR2):c.4053T>C (p.His1351=)
|
|
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|
NM_001035.3(RYR2):c.4059T>C (p.His1353=)
|
|
|
|
NM_001035.3(RYR2):c.405C>A (p.Thr135=)
|
rs1214302342
|
|
|
NM_001035.3(RYR2):c.4068C>A (p.Pro1356=)
|
rs199821105
|
|
|
NM_001035.3(RYR2):c.4069G>A (p.Asp1357Asn)
|
rs193922626
|
|
|
NM_001035.3(RYR2):c.4072C>T (p.Arg1358Cys)
|
rs771593145
|
|
|
NM_001035.3(RYR2):c.4073G>A (p.Arg1358His)
|
rs1675084862
|
|
|
NM_001035.3(RYR2):c.4080CAAAGA[1] (p.1360DK[1])
|
|
|
|
NM_001035.3(RYR2):c.4089A>G (p.Lys1363=)
|
|
|
|
NM_001035.3(RYR2):c.408C>T (p.Ser136=)
|
rs1553425562
|
|
|
NM_001035.3(RYR2):c.409C>A (p.Arg137=)
|
|
|
|
NM_001035.3(RYR2):c.4102C>G (p.Pro1368Ala)
|
|
|
|
NM_001035.3(RYR2):c.4102C>T (p.Pro1368Ser)
|
rs1675088114
|
|
|
NM_001035.3(RYR2):c.4109T>C (p.Phe1370Ser)
|
rs1675088358
|
|
|
NM_001035.3(RYR2):c.4110T>A (p.Phe1370Leu)
|
|
|
|
NM_001035.3(RYR2):c.4114A>C (p.Asn1372His)
|
|
|
|
NM_001035.3(RYR2):c.4130C>T (p.Ala1377Val)
|
|
|
|
NM_001035.3(RYR2):c.4150C>T (p.Leu1384=)
|
|
|
|
NM_001035.3(RYR2):c.4160+10T>C
|
rs397516530
|
|
|
NM_001035.3(RYR2):c.4160+15C>G
|
|
|
|
NM_001035.3(RYR2):c.4161-18T>G
|
|
|
|
NM_001035.3(RYR2):c.4161A>G (p.Arg1387=)
|
rs1573004917
|
|
|
NM_001035.3(RYR2):c.4171A>C (p.Arg1391=)
|
rs371561223
|
|
|
NM_001035.3(RYR2):c.4175G>A (p.Arg1392Lys)
|
rs1675223766
|
|
|
NM_001035.3(RYR2):c.4176A>G (p.Arg1392=)
|
rs2148445989
|
|
|
NM_001035.3(RYR2):c.4186G>A (p.Asp1396Asn)
|
rs1553515422
|
|
|
NM_001035.3(RYR2):c.4189T>C (p.Tyr1397His)
|
|
|
|
NM_001035.3(RYR2):c.4190A>T (p.Tyr1397Phe)
|
rs1318973952
|
|
|
NM_001035.3(RYR2):c.4193G>A (p.Ser1398Asn)
|
rs761006189
|
|
|
NM_001035.3(RYR2):c.4193G>T (p.Ser1398Ile)
|
|
|
|
NM_001035.3(RYR2):c.4195_4200del (p.Thr1399_Ser1400del)
|
rs1553515428
|
|
|
NM_001035.3(RYR2):c.4196C>A (p.Thr1399Lys)
|
rs75901196
|
|
|
NM_001035.3(RYR2):c.41T>C (p.Leu14Pro)
|
rs886043844
|
|
|
NM_001035.3(RYR2):c.4200C>T (p.Ser1400=)
|
|
|
|
NM_001035.3(RYR2):c.4207G>T (p.Ala1403Ser)
|
|
|
|
NM_001035.3(RYR2):c.4208_4209insTGTAATCTGC (p.Arg1404fs)
|
rs1553515441
|
|
|
NM_001035.3(RYR2):c.420T>C (p.Thr140=)
|
rs2149782582
|
|
|
NM_001035.3(RYR2):c.4218C>A (p.Thr1406=)
|
rs368817788
|
|
|
NM_001035.3(RYR2):c.4218C>T (p.Thr1406=)
|
rs368817788
|
|
|
NM_001035.3(RYR2):c.4219G>A (p.Glu1407Lys)
|
rs1420999217
|
|
|
NM_001035.3(RYR2):c.4219G>C (p.Glu1407Gln)
|
rs1420999217
|
|
|
NM_001035.3(RYR2):c.4227C>T (p.Val1409=)
|
|
|
|
NM_001035.3(RYR2):c.4229T>C (p.Leu1410Pro)
|
rs794728734
|
|
|
NM_001035.3(RYR2):c.4238A>G (p.Asp1413Gly)
|
rs1060500146
|
|
|
NM_001035.3(RYR2):c.4238A>T (p.Asp1413Val)
|
rs1060500146
|
|
|
NM_001035.3(RYR2):c.4240C>T (p.Arg1414Trp)
|
rs868750680
|
|
|
NM_001035.3(RYR2):c.4245T>A (p.Asp1415Glu)
|
rs1675234458
|
|
|
NM_001035.3(RYR2):c.4247A>G (p.Asp1416Gly)
|
rs1675234923
|
|
|
NM_001035.3(RYR2):c.4252G>C (p.Asp1418His)
|
|
|
|
NM_001035.3(RYR2):c.4262T>C (p.Met1421Thr)
|
rs2148446716
|
|
|
NM_001035.3(RYR2):c.4265A>C (p.Gln1422Pro)
|
rs2148446764
|
|
|
NM_001035.3(RYR2):c.4269G>A (p.Thr1423=)
|
rs1342902406
|
|
|
NM_001035.3(RYR2):c.4274C>A (p.Thr1425Lys)
|
rs761181641
|
|
|
NM_001035.3(RYR2):c.4275+7G>A
|
rs1573005697
|
|
|
NM_001035.3(RYR2):c.4275+8G>C
|
rs1573005723
|
|
|
NM_001035.3(RYR2):c.4275G>A (p.Thr1425=)
|
rs1488525254
|
|
|
NM_001035.3(RYR2):c.4276-13G>A
|
|
|
|
NM_001035.3(RYR2):c.4276-15C>G
|
|
|
|
NM_001035.3(RYR2):c.4276-17T>G
|
|
|
|
NM_001035.3(RYR2):c.4276-19G>A
|
|
|
|
NM_001035.3(RYR2):c.4276-9T>C
|
rs1559081633
|
|
|
NM_001035.3(RYR2):c.4277A>G (p.Tyr1426Cys)
|
|
|
|
NM_001035.3(RYR2):c.427C>T (p.Leu143=)
|
|
|
|
NM_001035.3(RYR2):c.4286C>T (p.Ser1429Leu)
|
rs1675464523
|
|
|
NM_001035.3(RYR2):c.4294A>G (p.Ile1432Val)
|
rs769163639
|
|
|
NM_001035.3(RYR2):c.431C>G (p.Ala144Gly)
|
rs1456012582
|
|
|
NM_001035.3(RYR2):c.4320T>C (p.Asn1440=)
|
rs1675468093
|
|
|
NM_001035.3(RYR2):c.4321G>A (p.Val1441Ile)
|
|
|
|
NM_001035.3(RYR2):c.4323C>T (p.Val1441=)
|
|
|
|
NM_001035.3(RYR2):c.4327G>A (p.Val1443Met)
|
rs1675469138
|
|
|
NM_001035.3(RYR2):c.4331G>T (p.Gly1444Val)
|
|
|
|
NM_001035.3(RYR2):c.4332C>T (p.Gly1444=)
|
|
|
|
NM_001035.3(RYR2):c.4352A>T (p.His1451Leu)
|
rs1675471793
|
|
|
NM_001035.3(RYR2):c.4357T>C (p.Tyr1453His)
|
rs1573013160
|
|
|
NM_001035.3(RYR2):c.4361A>G (p.Asp1454Gly)
|
rs752212017
|
|
|
NM_001035.3(RYR2):c.4368C>G (p.Gly1456=)
|
rs1057522920
|
|
|
NM_001035.3(RYR2):c.4374C>T (p.Asp1458=)
|
rs1163174459
|
|
|
NM_001035.3(RYR2):c.4375T>C (p.Leu1459=)
|
|
|
|
NM_001035.3(RYR2):c.4376T>C (p.Leu1459Ser)
|
rs1060500158
|
|
|
NM_001035.3(RYR2):c.4378G>C (p.Asp1460His)
|
|
|
|
NM_001035.3(RYR2):c.4380C>A (p.Asp1460Glu)
|
rs1675476028
|
|
|
NM_001035.3(RYR2):c.4381A>G (p.Arg1461Gly)
|
|
|
|
NM_001035.3(RYR2):c.4382G>C (p.Arg1461Thr)
|
rs1675476561
|
|
|
NM_001035.3(RYR2):c.4388G>A (p.Arg1463His)
|
rs753707154
|
|
|
NM_001035.3(RYR2):c.4391C>A (p.Thr1464Lys)
|
rs1010452511
|
|
|
NM_001035.3(RYR2):c.4391C>G (p.Thr1464Arg)
|
|
|
|
NM_001035.3(RYR2):c.4393G>A (p.Val1465Ile)
|
|
|
|
NM_001035.3(RYR2):c.4396A>G (p.Thr1466Ala)
|
rs1675479559
|
|
|
NM_001035.3(RYR2):c.43C>A (p.Arg15=)
|
|
|
|
NM_001035.3(RYR2):c.4405C>G (p.Leu1469Val)
|
rs2148458888
|
|
|
NM_001035.3(RYR2):c.4412A>G (p.Asp1471Gly)
|
|
|
|
NM_001035.3(RYR2):c.4413T>C (p.Asp1471=)
|
|
|
|
NM_001035.3(RYR2):c.441T>G (p.Val147=)
|
|
|
|
NM_001035.3(RYR2):c.4422A>G (p.Gly1474=)
|
|
|
|
NM_001035.3(RYR2):c.4424_4425del (p.Lys1475fs)
|
rs2148458967
|
|
|
NM_001035.3(RYR2):c.4430A>G (p.His1477Arg)
|
|
|
|
NM_001035.3(RYR2):c.4431T>C (p.His1477=)
|
|
|
|
NM_001035.3(RYR2):c.4434A>C (p.Glu1478Asp)
|
|
|
|
NM_001035.3(RYR2):c.4436+10C>G
|
|
|
|
NM_001035.3(RYR2):c.4436+11C>T
|
|
|
|
NM_001035.3(RYR2):c.4436+15A>C
|
|
|
|
NM_001035.3(RYR2):c.4436+15A>T
|
|
|
|
NM_001035.3(RYR2):c.4436+16T>C
|
rs1675484367
|
|
|
NM_001035.3(RYR2):c.4436+21dup
|
|
|
|
NM_001035.3(RYR2):c.4437-3_4437del
|
|
|
|
NM_001035.3(RYR2):c.444C>T (p.Gly148=)
|
rs1572035408
|
|
|
NM_001035.3(RYR2):c.4454G>A (p.Cys1485Tyr)
|
|
|
|
NM_001035.3(RYR2):c.4459A>C (p.Met1487Leu)
|
rs1278512393
|
|
|
NM_001035.3(RYR2):c.4459A>G (p.Met1487Val)
|
rs1278512393
|
|
|
NM_001035.3(RYR2):c.4460T>C (p.Met1487Thr)
|
rs1675795160
|
|
|
NM_001035.3(RYR2):c.4463T>C (p.Val1488Ala)
|
|
|
|
NM_001035.3(RYR2):c.4467T>C (p.Cys1489=)
|
|
|
|
NM_001035.3(RYR2):c.4471G>C (p.Gly1491Arg)
|
rs1212392127
|
|
|
NM_001035.3(RYR2):c.4473T>G (p.Gly1491=)
|
|
|
|
NM_001035.3(RYR2):c.4476G>C (p.Glu1492Asp)
|
|
|
|
NM_001035.3(RYR2):c.4478G>A (p.Ser1493Asn)
|
rs1675797021
|
|
|
NM_001035.3(RYR2):c.4485C>T (p.Ser1495=)
|
|
|
|
NM_001035.3(RYR2):c.4491G>T (p.Gly1497=)
|
rs2148474772
|
|
|
NM_001035.3(RYR2):c.4497A>T (p.Gly1499=)
|
rs1573023606
|
|
|
NM_001035.3(RYR2):c.44G>C (p.Arg15Pro)
|
rs865784613
|
|
|
NM_001035.3(RYR2):c.44_45insTGT (p.Arg15_Thr16insVal)
|
|
|
|
NM_001035.3(RYR2):c.4502A>G (p.Asn1501Ser)
|
rs2148474843
|
|
|
NM_001035.3(RYR2):c.4505A>G (p.Asn1502Ser)
|
rs769604342
|
|
|
NM_001035.3(RYR2):c.4513C>G (p.Leu1505Val)
|
rs1057518306
|
|
|
NM_001035.3(RYR2):c.4518G>A (p.Glu1506=)
|
rs775280276
|
|
|
NM_001035.3(RYR2):c.4528G>A (p.Val1510Met)
|
rs2148475032
|
|
|
NM_001035.3(RYR2):c.4531G>T (p.Val1511Leu)
|
rs1298609322
|
|
|
NM_001035.3(RYR2):c.4541C>T (p.Ala1514Val)
|
|
|
|
NM_001035.3(RYR2):c.4545C>T (p.Ser1515=)
|
rs768227781
|
|
|
NM_001035.3(RYR2):c.4548G>A (p.Gly1516=)
|
rs1675807561
|
|
|
NM_001035.3(RYR2):c.4549C>T (p.Leu1517=)
|
|
|
|
NM_001035.3(RYR2):c.4568A>G (p.Asn1523Ser)
|
|
|
|
NM_001035.3(RYR2):c.4569T>C (p.Asn1523=)
|
|
|
|
NM_001035.3(RYR2):c.4574A>C (p.Lys1525Thr)
|
|
|
|
NM_001035.3(RYR2):c.4586C>T (p.Thr1529Ile)
|
|
|
|
NM_001035.3(RYR2):c.4596+10C>T
|
|
|
|
NM_001035.3(RYR2):c.4596+18A>G
|
|
|
|
NM_001035.3(RYR2):c.4596+3_4596+9del
|
rs878854157
|
|
|
NM_001035.3(RYR2):c.4596+5G>A
|
rs1453761148
|
|
|
NM_001035.3(RYR2):c.4596+7G>T
|
|
|
|
NM_001035.3(RYR2):c.4596+8G>A
|
|
|
|
NM_001035.3(RYR2):c.4597-11del
|
rs3841805
|
|
|
NM_001035.3(RYR2):c.4597-4T>A
|
rs1676557876
|
|
|
NM_001035.3(RYR2):c.4597-7A>G
|
|
|
|
NM_001035.3(RYR2):c.4597-8dup
|
|
|
|
NM_001035.3(RYR2):c.459C>T (p.Thr153=)
|
|
|
|
NM_001035.3(RYR2):c.4604C>T (p.Pro1535Leu)
|
rs973392998
|
|
|
NM_001035.3(RYR2):c.4611A>G (p.Thr1537=)
|
rs1285176357
|
|
|
NM_001035.3(RYR2):c.4623T>C (p.Pro1541=)
|
rs2148510937
|
|
|
NM_001035.3(RYR2):c.4625C>A (p.Ala1542Glu)
|
|
|
|
NM_001035.3(RYR2):c.4625C>T (p.Ala1542Val)
|
|
|
|
NM_001035.3(RYR2):c.463+13T>G
|
|
|
|
NM_001035.3(RYR2):c.463+19G>A
|
|
|
|
NM_001035.3(RYR2):c.463+6C>A
|
rs397516533
|
|
|
NM_001035.3(RYR2):c.464-10A>G
|
rs1257588740
|
|
|
NM_001035.3(RYR2):c.464-12G>T
|
rs766779504
|
|
|
NM_001035.3(RYR2):c.464-1G>A
|
|
|
|
NM_001035.3(RYR2):c.464-9_464-8delinsCC
|
rs1572045142
|
|
|
NM_001035.3(RYR2):c.4644A>G (p.Thr1548=)
|
rs865947296
|
|
|
NM_001035.3(RYR2):c.4648C>T (p.Pro1550Ser)
|
rs1553518591
|
|
|
NM_001035.3(RYR2):c.464G>A (p.Gly155Glu)
|
rs1060500152
|
|
|
NM_001035.3(RYR2):c.4659C>T (p.Phe1553=)
|
rs767900430
|
|
|
NM_001035.3(RYR2):c.4662G>A (p.Gln1554=)
|
rs2148511200
|
|
|
NM_001035.3(RYR2):c.4664T>A (p.Phe1555Tyr)
|
rs1676563735
|
|
|
NM_001035.3(RYR2):c.4668G>T (p.Glu1556Asp)
|
rs370332700
|
|
|
NM_001035.3(RYR2):c.4669T>A (p.Leu1557Met)
|
rs947233100
|
|
|
NM_001035.3(RYR2):c.4669T>C (p.Leu1557=)
|
rs947233100
|
|
|
NM_001035.3(RYR2):c.4678A>G (p.Ile1560Val)
|
|
|
|
NM_001035.3(RYR2):c.4683+12T>C
|
|
|
|
NM_001035.3(RYR2):c.4683+7A>C
|
|
|
|
NM_001035.3(RYR2):c.4683+8A>C
|
|
|
|
NM_001035.3(RYR2):c.4683+8A>G
|
|
|
|
NM_001035.3(RYR2):c.4684-16C>G
|
|
|
|
NM_001035.3(RYR2):c.4684-17G>A
|
|
|
|
NM_001035.3(RYR2):c.4684-3T>C
|
|
|
|
NM_001035.3(RYR2):c.4684-5G>A
|
rs7522981
|
|
|
NM_001035.3(RYR2):c.4684-5G>T
|
rs7522981
|
|
|
NM_001035.3(RYR2):c.4684-9A>C
|
|
|
|
NM_001035.3(RYR2):c.4688T>C (p.Val1563Ala)
|
|
|
|
NM_001035.3(RYR2):c.4693C>G (p.Pro1565Ala)
|
rs778783933
|
|
|
NM_001035.3(RYR2):c.4703C>T (p.Ala1568Val)
|
rs955021407
|
|
|
NM_001035.3(RYR2):c.4704G>A (p.Ala1568=)
|
rs1376915958
|
|
|
NM_001035.3(RYR2):c.4713C>A (p.Phe1571Leu)
|
rs2148572561
|
|
|
NM_001035.3(RYR2):c.4714A>G (p.Lys1572Glu)
|
|
|
|
NM_001035.3(RYR2):c.4718G>A (p.Ser1573Asn)
|
rs776893934
|
|
|
NM_001035.3(RYR2):c.471TTG[1] (p.Cys158del)
|
rs2149792684
|
|
|
NM_001035.3(RYR2):c.4728G>A (p.Lys1576=)
|
rs2148572687
|
|
|
NM_001035.3(RYR2):c.4731C>T (p.Asn1577=)
|
rs1677763044
|
|
|
NM_001035.3(RYR2):c.4733C>T (p.Pro1578Leu)
|
|
|
|
NM_001035.3(RYR2):c.4734C>A (p.Pro1578=)
|
rs201880756
|
|
|
NM_001035.3(RYR2):c.4734C>G (p.Pro1578=)
|
rs201880756
|
|
|
NM_001035.3(RYR2):c.4734C>T (p.Pro1578=)
|
rs201880756
|
|
|
NM_001035.3(RYR2):c.4735G>C (p.Val1579Leu)
|
rs763389778
|
|
|
NM_001035.3(RYR2):c.4738C>T (p.Pro1580Ser)
|
rs1677765906
|
|
|
NM_001035.3(RYR2):c.4739C>T (p.Pro1580Leu)
|
rs755303612
|
|
|
NM_001035.3(RYR2):c.4740G>T (p.Pro1580=)
|
rs79811945
|
|
|
NM_001035.3(RYR2):c.4745G>C (p.Cys1582Ser)
|
|
|
|
NM_001035.3(RYR2):c.4746C>T (p.Cys1582=)
|
|
|
|
NM_001035.3(RYR2):c.4748C>T (p.Pro1583Leu)
|
rs1421328710
|
|
|
NM_001035.3(RYR2):c.4749C>T (p.Pro1583=)
|
rs914743349
|
|
|
NM_001035.3(RYR2):c.474T>C (p.Cys158=)
|
|
|
|
NM_001035.3(RYR2):c.4750C>G (p.Pro1584Ala)
|
rs745824179
|
|
|
NM_001035.3(RYR2):c.4750C>T (p.Pro1584Ser)
|
|
|
|
NM_001035.3(RYR2):c.4751C>T (p.Pro1584Leu)
|
rs772098320
|
|
|
NM_001035.3(RYR2):c.4756C>T (p.Leu1586Phe)
|
rs1677771351
|
|
|
NM_001035.3(RYR2):c.4760A>G
|
rs727504133
|
|
|
NM_001035.3(RYR2):c.4766A>G (p.Gln1589Arg)
|
|
|
|
NM_001035.3(RYR2):c.4770C>T (p.Phe1590=)
|
rs397516536
|
|
|
NM_001035.3(RYR2):c.4771C>T (p.Leu1591=)
|
|
|
|
NM_001035.3(RYR2):c.4773G>A (p.Leu1591=)
|
|
|
|
NM_001035.3(RYR2):c.4781T>C (p.Val1594Ala)
|
|
|
|
NM_001035.3(RYR2):c.4783C>T (p.Leu1595=)
|
|
|
|
NM_001035.3(RYR2):c.4790G>A (p.Ser1597Asn)
|
rs1481918213
|
|
|
NM_001035.3(RYR2):c.4797G>A (p.Met1599Ile)
|
rs1217016031
|
|
|
NM_001035.3(RYR2):c.4799C>T (p.Pro1600Leu)
|
rs759952370
|
|
|
NM_001035.3(RYR2):c.47_48del (p.Thr16fs)
|
|
|
|
NM_001035.3(RYR2):c.48+10G>A
|
|
|
|
NM_001035.3(RYR2):c.48+13C>T
|
rs1353592562
|
|
|
NM_001035.3(RYR2):c.48+15T>C
|
|
|
|
NM_001035.3(RYR2):c.48+19G>T
|
|
|
|
NM_001035.3(RYR2):c.48+2T>C
|
|
|
|
NM_001035.3(RYR2):c.48+6C>A
|
|
|
|
NM_001035.3(RYR2):c.48+7G>T
|
rs886567477
|
|
|
NM_001035.3(RYR2):c.48+8C>T
|
|
|
|
NM_001035.3(RYR2):c.48+9C>T
|
|
|
|
NM_001035.3(RYR2):c.4803C>G (p.Asn1601Lys)
|
|
|
|
NM_001035.3(RYR2):c.4804C>T (p.Gln1602Ter)
|
|
|
|
NM_001035.3(RYR2):c.4818A>G (p.Val1606=)
|
rs1559110553
|
|
|
NM_001035.3(RYR2):c.4821T>C (p.Asp1607=)
|
rs868510940
|
|
|
NM_001035.3(RYR2):c.4822G>C (p.Val1608Leu)
|
rs1677780778
|
|
|
NM_001035.3(RYR2):c.4840C>A (p.Arg1614Ser)
|
|
|
|
NM_001035.3(RYR2):c.4841G>T (p.Arg1614Leu)
|
rs746943081
|
|
|
NM_001035.3(RYR2):c.4843C>T (p.Gln1615Ter)
|
|
|
|
NM_001035.3(RYR2):c.4848C>T (p.Gly1616=)
|
rs1308711902
|
|
|
NM_001035.3(RYR2):c.4867G>T (p.Asp1623Tyr)
|
rs1194621692
|
|
|
NM_001035.3(RYR2):c.4868A>G (p.Asp1623Gly)
|
rs1421802252
|
|
|
NM_001035.3(RYR2):c.4880T>A (p.Phe1627Tyr)
|
rs2148574202
|
|
|
NM_001035.3(RYR2):c.4885T>C (p.Ser1629Pro)
|
rs1435195421
|
|
|
NM_001035.3(RYR2):c.4895T>A (p.Ile1632Asn)
|
rs1373346977
|
|
|
NM_001035.3(RYR2):c.48T>C (p.Thr16=)
|
|
|
|
NM_001035.3(RYR2):c.49-10C>G
|
|
|
|
NM_001035.3(RYR2):c.49-11C>T
|
rs2149346688
|
|
|
NM_001035.3(RYR2):c.49-12C>T
|
|
|
|
NM_001035.3(RYR2):c.49-14C>G
|
|
|
|
NM_001035.3(RYR2):c.49-16_49-13del
|
|
|
|
NM_001035.3(RYR2):c.49-17T>C
|
|
|
|
NM_001035.3(RYR2):c.49-4G>A
|
rs750038523
|
|
|
NM_001035.3(RYR2):c.49-6T>C
|
rs2149346729
|
|
|
NM_001035.3(RYR2):c.49-9C>G
|
rs1057522958
|
|
|
NM_001035.3(RYR2):c.4902G>A (p.Glu1634=)
|
rs767794262
|
|
|
NM_001035.3(RYR2):c.490C>T (p.Pro164Ser)
|
|
|
|
NM_001035.3(RYR2):c.4910+10A>G
|
|
|
|
NM_001035.3(RYR2):c.4910+11G>T
|
|
|
|
NM_001035.3(RYR2):c.4910+1G>A
|
|
|
|
NM_001035.3(RYR2):c.4910+3C>G
|
rs757198624
|
|
|
NM_001035.3(RYR2):c.4910+3C>T
|
|
|
|
NM_001035.3(RYR2):c.4910+6C>T
|
rs1553521040
|
|
|
NM_001035.3(RYR2):c.4910+9C>T
|
rs2148574631
|
|
|
NM_001035.3(RYR2):c.4911-10C>T
|
rs762641238
|
|
|
NM_001035.3(RYR2):c.4911-14C>T
|
|
|
|
NM_001035.3(RYR2):c.4911-18C>T
|
|
|
|
NM_001035.3(RYR2):c.4911-19_4911-18insT
|
|
|
|
NM_001035.3(RYR2):c.4911-20C>T
|
|
|
|
NM_001035.3(RYR2):c.4911-4A>G
|
|
|
|
NM_001035.3(RYR2):c.4911-8T>C
|
rs1678192688
|
|
|
NM_001035.3(RYR2):c.4911-8T>G
|
|
|
|
NM_001035.3(RYR2):c.4912T>A (p.Ser1638Thr)
|
rs794728739
|
|
|
NM_001035.3(RYR2):c.4913del (p.Ser1638fs)
|
rs1573121929
|
|
|
NM_001035.3(RYR2):c.4914T>C (p.Ser1638=)
|
rs2148593032
|
|
|
NM_001035.3(RYR2):c.4914T>G (p.Ser1638=)
|
|
|
|
NM_001035.3(RYR2):c.4920C>A (p.Asp1640Glu)
|
rs886046267
|
|
|
NM_001035.3(RYR2):c.4921A>T (p.Ile1641Phe)
|
|
|
|
NM_001035.3(RYR2):c.4923C>A (p.Ile1641=)
|
|
|
|
NM_001035.3(RYR2):c.4931T>C (p.Leu1644Ser)
|
rs2148593157
|
|
|
NM_001035.3(RYR2):c.4932G>C (p.Leu1644Phe)
|
|
|
|
NM_001035.3(RYR2):c.4935dup (p.Glu1646fs)
|
|
|
|
NM_001035.3(RYR2):c.4941G>A (p.Gln1647=)
|
rs727504997
|
|
|
NM_001035.3(RYR2):c.4964A>G (p.Tyr1655Cys)
|
rs1678200182
|
|
|
NM_001035.3(RYR2):c.4972C>T (p.Leu1658Phe)
|
rs767540663
|
|
|
NM_001035.3(RYR2):c.4973T>C (p.Leu1658Pro)
|
rs2148593468
|
|
|
NM_001035.3(RYR2):c.4974C>T (p.Leu1658=)
|
rs2148593486
|
|
|
NM_001035.3(RYR2):c.4976G>A (p.Arg1659Gln)
|
rs1281673231
|
|
|
NM_001035.3(RYR2):c.497C>T (p.Ser166Phe)
|
|
|
|
NM_001035.3(RYR2):c.4989C>A (p.Ala1663=)
|
rs147060179
|
|
|
NM_001035.3(RYR2):c.4990G>A (p.Val1664Ile)
|
rs749434532
|
|
|
NM_001035.3(RYR2):c.4990G>T (p.Val1664Phe)
|
rs749434532
|
|
|
NM_001035.3(RYR2):c.4991T>A (p.Val1664Asp)
|
rs878854158
|
|
|
NM_001035.3(RYR2):c.5011C>A (p.Arg1671=)
|
|
|
|
NM_001035.3(RYR2):c.5012G>A (p.Arg1671Gln)
|
rs777091366
|
|
|
NM_001035.3(RYR2):c.5017G>A (p.Ala1673Thr)
|
rs2148593799
|
|
|
NM_001035.3(RYR2):c.5018C>T (p.Ala1673Val)
|
rs2148593806
|
|
|
NM_001035.3(RYR2):c.5023G>T (p.Ala1675Ser)
|
rs2148593845
|
|
|
NM_001035.3(RYR2):c.5025C>A (p.Ala1675=)
|
|
|
|
NM_001035.3(RYR2):c.5033G>A (p.Ser1678Asn)
|
rs1678207715
|
|
|
NM_001035.3(RYR2):c.5047C>G (p.Pro1683Ala)
|
|
|
|
NM_001035.3(RYR2):c.5047C>T (p.Pro1683Ser)
|
rs766933683
|
|
|
NM_001035.3(RYR2):c.5060A>C (p.Tyr1687Ser)
|
rs760479688
|
|
|
NM_001035.3(RYR2):c.506G>A (p.Arg169Gln)
|
rs397516539
|
|
|
NM_001035.3(RYR2):c.5070G>A (p.Glu1690=)
|
rs1435941641
|
|
|
NM_001035.3(RYR2):c.5078A>G (p.Tyr1693Cys)
|
rs886046268
|
|
|
NM_001035.3(RYR2):c.5080A>G (p.Met1694Val)
|
rs1486465466
|
|
|
NM_001035.3(RYR2):c.5086G>C (p.Gly1696Arg)
|
|
|
|
NM_001035.3(RYR2):c.508T>A (p.Ser170Thr)
|
rs1558712336
|
|
|
NM_001035.3(RYR2):c.5091G>C (p.Leu1697Phe)
|
|
|
|
NM_001035.3(RYR2):c.50A>G (p.Asp17Gly)
|
|
|
|
NM_001035.3(RYR2):c.5103C>G (p.Gly1701=)
|
|
|
|
NM_001035.3(RYR2):c.5105A>G (p.Tyr1702Cys)
|
|
|
|
NM_001035.3(RYR2):c.510A>C (p.Ser170=)
|
rs1057523213
|
|
|
NM_001035.3(RYR2):c.5112C>T (p.Asp1704=)
|
|
|
|
NM_001035.3(RYR2):c.5148T>C (p.Thr1716=)
|
|
|
|
NM_001035.3(RYR2):c.514G>A (p.Gly172Arg)
|
rs1701129738
|
|
|
NM_001035.3(RYR2):c.5152A>G (p.Arg1718Gly)
|
|
|
|
NM_001035.3(RYR2):c.5154G>A (p.Arg1718=)
|
rs114534505
|
|
|
NM_001035.3(RYR2):c.5154G>C (p.Arg1718Ser)
|
rs114534505
|
|
|
NM_001035.3(RYR2):c.5168A>G (p.Asn1723Ser)
|
rs2148594785
|
|
|
NM_001035.3(RYR2):c.516A>T (p.Gly172=)
|
|
|
|
NM_001035.3(RYR2):c.5170G>A (p.Glu1724Lys)
|
rs794728740
|
|
|
NM_001035.3(RYR2):c.5172G>A (p.Glu1724=)
|
|
|
|
NM_001035.3(RYR2):c.5176A>C (p.Ile1726Leu)
|
|
|
|
NM_001035.3(RYR2):c.5176A>G (p.Ile1726Val)
|
rs764065333
|
|
|
NM_001035.3(RYR2):c.5186T>A (p.Met1729Lys)
|
|
|
|
NM_001035.3(RYR2):c.5190G>A (p.Thr1730=)
|
rs397516541
|
|
|
NM_001035.3(RYR2):c.5190G>T (p.Thr1730=)
|
rs397516541
|
|
|
NM_001035.3(RYR2):c.5193G>A (p.Glu1731=)
|
rs2148594968
|
|
|
NM_001035.3(RYR2):c.5203A>G (p.Ser1735Gly)
|
|
|
|
NM_001035.3(RYR2):c.5208C>A (p.Ile1736=)
|
rs1678226437
|
|
|
NM_001035.3(RYR2):c.5209A>C (p.Thr1737Pro)
|
|
|
|
NM_001035.3(RYR2):c.5210C>G (p.Thr1737Ser)
|
rs1172292367
|
|
|
NM_001035.3(RYR2):c.5215T>C (p.Phe1739Leu)
|
rs2148595163
|
|
|
NM_001035.3(RYR2):c.5220T>G (p.Pro1740=)
|
rs886046269
|
|
|
NM_001035.3(RYR2):c.5227A>G (p.Asn1743Asp)
|
|
|
|
NM_001035.3(RYR2):c.5239G>A (p.Gly1747Ser)
|
rs1553522190
|
|
|
NM_001035.3(RYR2):c.5241C>G (p.Gly1747=)
|
rs533362755
|
|
|
NM_001035.3(RYR2):c.5241C>T (p.Gly1747=)
|
|
|
|
NM_001035.3(RYR2):c.5248G>A (p.Gly1750Arg)
|
rs2148595384
|
|
|
NM_001035.3(RYR2):c.5251A>T (p.Ile1751Phe)
|
rs1573124154
|
|
|
NM_001035.3(RYR2):c.5256C>T (p.Gly1752=)
|
rs1350989279
|
|
|
NM_001035.3(RYR2):c.525A>G (p.Val175=)
|
|
|
|
NM_001035.3(RYR2):c.5266T>G (p.Ser1756Ala)
|
rs1038625350
|
|
|
NM_001035.3(RYR2):c.5270T>C (p.Leu1757Pro)
|
|
|
|
NM_001035.3(RYR2):c.5279G>C (p.Arg1760Pro)
|
rs765106198
|
|
|
NM_001035.3(RYR2):c.527G>A (p.Arg176Gln)
|
rs794728708
|
|
|
NM_001035.3(RYR2):c.5285A>G (p.Gln1762Arg)
|
|
|
|
NM_001035.3(RYR2):c.5288T>G (p.Phe1763Cys)
|
rs1057518518
|
|
|
NM_001035.3(RYR2):c.5291C>T (p.Ser1764Phe)
|
rs1678236675
|
|
|
NM_001035.3(RYR2):c.5292C>T (p.Ser1764=)
|
|
|
|
NM_001035.3(RYR2):c.5295C>T (p.Ser1765=)
|
|
|
|
NM_001035.3(RYR2):c.5296C>T (p.Pro1766Ser)
|
rs1573124513
|
|
|
NM_001035.3(RYR2):c.5298C>G (p.Pro1766=)
|
|
|
|
NM_001035.3(RYR2):c.5299A>G (p.Ser1767Gly)
|
rs751819202
|
|
|
NM_001035.3(RYR2):c.5301T>C (p.Ser1767=)
|
|
|
|
NM_001035.3(RYR2):c.5306T>C (p.Val1769Ala)
|
rs1553522244
|
|
|
NM_001035.3(RYR2):c.5309G>A (p.Ser1770Asn)
|
rs1678239780
|
|
|
NM_001035.3(RYR2):c.530T>G (p.Val177Gly)
|
|
|
|
NM_001035.3(RYR2):c.5311A>G (p.Ile1771Val)
|
rs1678240011
|
|
|
NM_001035.3(RYR2):c.5315G>T (p.Ser1772Ile)
|
rs1559116458
|
|
|
NM_001035.3(RYR2):c.5320G>A (p.Glu1774Lys)
|
|
|
|
NM_001035.3(RYR2):c.5321A>T (p.Glu1774Val)
|
|
|
|
NM_001035.3(RYR2):c.5332T>G (p.Tyr1778Asp)
|
rs2148595965
|
|
|
NM_001035.3(RYR2):c.5334C>T (p.Tyr1778=)
|
rs756648811
|
|
|
NM_001035.3(RYR2):c.5340A>G (p.Pro1780=)
|
rs749662039
|
|
|
NM_001035.3(RYR2):c.5374A>T (p.Ile1792Leu)
|
rs878854159
|
|
|
NM_001035.3(RYR2):c.537T>A (p.Asp179Glu)
|
rs1362710187
|
|
|
NM_001035.3(RYR2):c.5406C>G (p.Gly1802=)
|
|
|
|
NM_001035.3(RYR2):c.5410C>T (p.Leu1804Phe)
|
rs367609940
|
|
|
NM_001035.3(RYR2):c.5414A>G (p.His1805Arg)
|
rs759774382
|
|
|
NM_001035.3(RYR2):c.5415T>C (p.His1805=)
|
rs2148596471
|
|
|
NM_001035.3(RYR2):c.5417C>T (p.Ala1806Val)
|
rs1415713582
|
|
|
NM_001035.3(RYR2):c.5419C>A (p.Arg1807=)
|
|
|
|
NM_001035.3(RYR2):c.5433del (p.Thr1813fs)
|
rs1678252821
|
|
|
NM_001035.3(RYR2):c.5437A>G (p.Thr1813Ala)
|
|
|
|
NM_001035.3(RYR2):c.5437A>T (p.Thr1813Ser)
|
|
|
|
NM_001035.3(RYR2):c.543C>T (p.Leu181=)
|
rs2149792951
|
|
|
NM_001035.3(RYR2):c.5441C>T (p.Thr1814Ile)
|
|
|
|
NM_001035.3(RYR2):c.544A>G (p.Ile182Val)
|
rs2149792958
|
|
|
NM_001035.3(RYR2):c.5451C>G (p.Leu1817=)
|
|
|
|
NM_001035.3(RYR2):c.5462T>C (p.Leu1821Pro)
|
|
|
|
NM_001035.3(RYR2):c.5469G>A (p.Lys1823=)
|
|
|
|
NM_001035.3(RYR2):c.5473T>C (p.Phe1825Leu)
|
|
|
|
NM_001035.3(RYR2):c.5475C>T (p.Phe1825=)
|
|
|
|
NM_001035.3(RYR2):c.5477A>G (p.Tyr1826Cys)
|
|
|
|
NM_001035.3(RYR2):c.5480C>A (p.Thr1827Asn)
|
rs968046365
|
|
|
NM_001035.3(RYR2):c.5485C>G (p.Leu1829Val)
|
rs876657991
|
|
|
NM_001035.3(RYR2):c.5487G>A (p.Leu1829=)
|
rs371250741
|
|
|
NM_001035.3(RYR2):c.5507A>G (p.Asn1836Ser)
|
rs1678261343
|
|
|
NM_001035.3(RYR2):c.5512G>A (p.Asp1838Asn)
|
|
|
|
NM_001035.3(RYR2):c.5512G>T (p.Asp1838Tyr)
|
rs1559117015
|
|
|
NM_001035.3(RYR2):c.5519A>G (p.Lys1840Arg)
|
|
|
|
NM_001035.3(RYR2):c.551_554del (p.Val184fs)
|
|
|
|
NM_001035.3(RYR2):c.5521C>G (p.His1841Asp)
|
rs1678263302
|
|
|
NM_001035.3(RYR2):c.5525T>C (p.Ile1842Thr)
|
rs1168483242
|
|
|
NM_001035.3(RYR2):c.5580G>A (p.Glu1860=)
|
|
|
|
NM_001035.3(RYR2):c.5585A>G (p.Asp1862Gly)
|
rs1559117209
|
|
|
NM_001035.3(RYR2):c.5589G>A (p.Thr1863=)
|
rs778971089
|
|
|
NM_001035.3(RYR2):c.5594A>G (p.Glu1865Gly)
|
rs2148597888
|
|
|
NM_001035.3(RYR2):c.5601G>T (p.Glu1867Asp)
|
|
|
|
NM_001035.3(RYR2):c.5611G>T (p.Asp1871Tyr)
|
rs1678273557
|
|
|
NM_001035.3(RYR2):c.5612A>G (p.Asp1871Gly)
|
rs895322404
|
|
|
NM_001035.3(RYR2):c.5616T>A (p.Asp1872Glu)
|
|
|
|
NM_001035.3(RYR2):c.5616T>C (p.Asp1872=)
|
rs765786213
|
|
|
NM_001035.3(RYR2):c.5635G>A (p.Gly1879Ser)
|
rs1678277050
|
|
|
NM_001035.3(RYR2):c.5639A>T (p.Glu1880Val)
|
rs727504792
|
|
|
NM_001035.3(RYR2):c.5640G>A (p.Glu1880=)
|
|
|
|
NM_001035.3(RYR2):c.5651A>G (p.Lys1884Arg)
|
|
|
|
NM_001035.3(RYR2):c.5652_5653delinsTT (p.Lys1884_Gly1885delinsAsnTrp)
|
rs2148598407
|
|
|
NM_001035.3(RYR2):c.5653G>C (p.Gly1885Arg)
|
rs200197527
|
|
|
NM_001035.3(RYR2):c.5654G>C (p.Gly1885Ala)
|
rs41315858
|
|
|
NM_001035.3(RYR2):c.5657dup (p.Lys1887fs)
|
rs786205273
|
|
|
NM_001035.3(RYR2):c.5658C>A (p.Gly1886=)
|
rs745731983
|
|
|
NM_001035.3(RYR2):c.5660A>C (p.Lys1887Thr)
|
rs1415979370
|
|
|
NM_001035.3(RYR2):c.5660A>T (p.Lys1887Met)
|
|
|
|
NM_001035.3(RYR2):c.5663G>A (p.Arg1888Gln)
|
rs869025511
|
|
|
NM_001035.3(RYR2):c.5663G>T (p.Arg1888Leu)
|
rs869025511
|
|
|
NM_001035.3(RYR2):c.5668A>G (p.Lys1890Glu)
|
|
|
|
NM_001035.3(RYR2):c.5670G>A (p.Lys1890=)
|
rs779847743
|
|
|
NM_001035.3(RYR2):c.567A>C (p.Glu189Asp)
|
|
|
|
NM_001035.3(RYR2):c.567A>T (p.Glu189Asp)
|
rs1415931588
|
|
|
NM_001035.3(RYR2):c.5685A>G (p.Gln1895=)
|
|
|
|
NM_001035.3(RYR2):c.5703A>G (p.Pro1901=)
|
rs1573127804
|
|
|
NM_001035.3(RYR2):c.570G>A (p.Arg190=)
|
|
|
|
NM_001035.3(RYR2):c.5711T>C (p.Leu1904Ser)
|
rs1678290289
|
|
|
NM_001035.3(RYR2):c.5715+10A>G
|
|
|
|
NM_001035.3(RYR2):c.5716-12A>T
|
|
|
|
NM_001035.3(RYR2):c.5716-3T>A
|
rs1573142057
|
|
|
NM_001035.3(RYR2):c.5716-9G>A
|
|
|
|
NM_001035.3(RYR2):c.5721C>T (p.Cys1907=)
|
rs769877200
|
|
|
NM_001035.3(RYR2):c.5723T>C (p.Leu1908Pro)
|
|
|
|
NM_001035.3(RYR2):c.5730T>A (p.Leu1910=)
|
|
|
|
NM_001035.3(RYR2):c.5733G>A (p.Gln1911=)
|
|
|
|
NM_001035.3(RYR2):c.5740T>C (p.Cys1914Arg)
|
|
|
|
NM_001035.3(RYR2):c.574T>G (p.Leu192Val)
|
|
|
|
NM_001035.3(RYR2):c.5752G>T (p.Val1918Phe)
|
rs912197043
|
|
|
NM_001035.3(RYR2):c.576+1G>T
|
|
|
|
NM_001035.3(RYR2):c.5764A>G (p.Ile1922Val)
|
rs374874044
|
|
|
NM_001035.3(RYR2):c.5764A>T (p.Ile1922Leu)
|
|
|
|
NM_001035.3(RYR2):c.577-14del
|
|
|
|
NM_001035.3(RYR2):c.577-5T>C
|
rs1237631846
|
|
|
NM_001035.3(RYR2):c.5771C>G (p.Ala1924Gly)
|
rs776358808
|
|
|
NM_001035.3(RYR2):c.5773A>G (p.Ile1925Val)
|
rs1678588295
|
|
|
NM_001035.3(RYR2):c.5781C>T (p.Ala1927=)
|
rs2148613866
|
|
|
NM_001035.3(RYR2):c.57A>G (p.Glu19=)
|
|
|
|
NM_001035.3(RYR2):c.5806C>A (p.Leu1936Ile)
|
rs2148613988
|
|
|
NM_001035.3(RYR2):c.5814C>T (p.Asp1938=)
|
|
|
|
NM_001035.3(RYR2):c.5821C>T (p.Arg1941Cys)
|
rs754811291
|
|
|
NM_001035.3(RYR2):c.5836G>A (p.Glu1946Lys)
|
rs267598436
|
|
|
NM_001035.3(RYR2):c.5838A>C (p.Glu1946Asp)
|
rs1485391345
|
|
|
NM_001035.3(RYR2):c.5838A>G (p.Glu1946=)
|
rs1485391345
|
|
|
NM_001035.3(RYR2):c.5841C>T (p.Val1947=)
|
rs1487785475
|
|
|
NM_001035.3(RYR2):c.5857A>C (p.Met1953Leu)
|
rs1057518592
|
|
|
NM_001035.3(RYR2):c.5858T>C (p.Met1953Thr)
|
|
|
|
NM_001035.3(RYR2):c.5875G>A (p.Ala1959Thr)
|
|
|
|
NM_001035.3(RYR2):c.5880G>A (p.Arg1960=)
|
|
|
|
NM_001035.3(RYR2):c.5882A>G (p.Lys1961Arg)
|
|
|
|
NM_001035.3(RYR2):c.5895del (p.Phe1965fs)
|
|
|
|
NM_001035.3(RYR2):c.5899T>C (p.Ser1967Pro)
|
|
|
|
NM_001035.3(RYR2):c.5901A>C (p.Ser1967=)
|
rs1553524372
|
|
|
NM_001035.3(RYR2):c.5917-12T>C
|
rs746414195
|
|
|
NM_001035.3(RYR2):c.591C>A (p.Gly197=)
|
rs1572092032
|
|
|
NM_001035.3(RYR2):c.5920A>C (p.Asn1974His)
|
rs1450235463
|
|
|
NM_001035.3(RYR2):c.5920A>G (p.Asn1974Asp)
|
|
|
|
NM_001035.3(RYR2):c.5922T>C (p.Asn1974=)
|
rs747433387
|
|
|
NM_001035.3(RYR2):c.5925G>A (p.Met1975Ile)
|
rs1060500165
|
|
|
NM_001035.3(RYR2):c.5940G>C (p.Lys1980Asn)
|
|
|
|
NM_001035.3(RYR2):c.5944G>C (p.Asp1982His)
|
|
|
|
NM_001035.3(RYR2):c.594C>A (p.Asn198Lys)
|
|
|
|
NM_001035.3(RYR2):c.595G>A (p.Gly199Ser)
|
rs886046261
|
|
|
NM_001035.3(RYR2):c.5962T>C (p.Cys1988Arg)
|
|
|
|
NM_001035.3(RYR2):c.596G>T (p.Gly199Val)
|
rs754911836
|
|
|
NM_001035.3(RYR2):c.5980G>T (p.Asp1994Tyr)
|
|
|
|
NM_001035.3(RYR2):c.5984A>T (p.Gln1995Leu)
|
rs2148649347
|
|
|
NM_001035.3(RYR2):c.5989T>C (p.Leu1997=)
|
|
|
|
NM_001035.3(RYR2):c.5994T>A (p.Asp1998Glu)
|
rs2148649411
|
|
|
NM_001035.3(RYR2):c.5999A>G (p.His2000Arg)
|
rs1679359996
|
|
|
NM_001035.3(RYR2):c.6000T>C (p.His2000=)
|
|
|
|
NM_001035.3(RYR2):c.6000T>G (p.His2000Gln)
|
|
|
|
NM_001035.3(RYR2):c.6003A>C (p.Glu2001Asp)
|
|
|
|
NM_001035.3(RYR2):c.6004G>A (p.Asp2002Asn)
|
rs2148649453
|
|
|
NM_001035.3(RYR2):c.6005A>G (p.Asp2002Gly)
|
|
|
|
NM_001035.3(RYR2):c.600C>T (p.Ser200=)
|
rs754084775
|
|
|
NM_001035.3(RYR2):c.6017A>G (p.His2006Arg)
|
rs1553528609
|
|
|
NM_001035.3(RYR2):c.6018T>C (p.His2006=)
|
rs757380341
|
|
|
NM_001035.3(RYR2):c.6020G>T (p.Cys2007Phe)
|
rs1251250228
|
|
|
NM_001035.3(RYR2):c.6022+13del
|
rs1166918981
|
|
|
NM_001035.3(RYR2):c.6022+14G>A
|
rs1370132495
|
|
|
NM_001035.3(RYR2):c.6022+15A>T
|
|
|
|
NM_001035.3(RYR2):c.6022+6G>A
|
rs1679363703
|
|
|
NM_001035.3(RYR2):c.6023-14T>G
|
|
|
|
NM_001035.3(RYR2):c.6023-19C>G
|
|
|
|
NM_001035.3(RYR2):c.6023-8T>A
|
rs770641716
|
|
|
NM_001035.3(RYR2):c.6027T>G (p.Ile2009Met)
|
rs1553529773
|
|
|
NM_001035.3(RYR2):c.6044G>A (p.Gly2015Glu)
|
|
|
|
NM_001035.3(RYR2):c.6053A>G (p.Asp2018Gly)
|
rs1679572780
|
|
|
NM_001035.3(RYR2):c.6056G>A (p.Gly2019Glu)
|
|
|
|
NM_001035.3(RYR2):c.606C>A (p.His202Gln)
|
rs1438256315
|
|
|
NM_001035.3(RYR2):c.6077G>C (p.Arg2026Thr)
|
|
|
|
NM_001035.3(RYR2):c.607G>A (p.Val203Met)
|
rs1158346329
|
|
|
NM_001035.3(RYR2):c.6080G>T (p.Gly2027Val)
|
rs2148657684
|
|
|
NM_001035.3(RYR2):c.6090A>C (p.Leu2030=)
|
|
|
|
NM_001035.3(RYR2):c.6090A>T (p.Leu2030=)
|
|
|
|
NM_001035.3(RYR2):c.6091T>A (p.Ser2031Thr)
|
|
|
|
NM_001035.3(RYR2):c.6092C>T (p.Ser2031Phe)
|
|
|
|
NM_001035.3(RYR2):c.6094C>G (p.Leu2032Val)
|
|
|
|
NM_001035.3(RYR2):c.6105G>A (p.Lys2035=)
|
|
|
|
NM_001035.3(RYR2):c.6114T>C (p.Tyr2038=)
|
rs1451202406
|
|
|
NM_001035.3(RYR2):c.6117G>A (p.Leu2039=)
|
|
|
|
NM_001035.3(RYR2):c.6118AAG[4] (p.Lys2042_Gln2043insLys)
|
|
|
|
NM_001035.3(RYR2):c.611A>T (p.Asp204Val)
|
rs2149842971
|
|
|
NM_001035.3(RYR2):c.6126G>A (p.Lys2042=)
|
rs1433457033
|
|
|
NM_001035.3(RYR2):c.6134A>G (p.Glu2045Gly)
|
rs878854160
|
|
|
NM_001035.3(RYR2):c.6141A>C (p.Pro2047=)
|
|
|
|
NM_001035.3(RYR2):c.6141A>G (p.Pro2047=)
|
rs2148657967
|
|
|
NM_001035.3(RYR2):c.6149G>A (p.Ser2050Asn)
|
rs1679582199
|
|
|
NM_001035.3(RYR2):c.6150T>C (p.Ser2050=)
|
rs371310419
|
|
|
NM_001035.3(RYR2):c.6150T>G (p.Ser2050Arg)
|
rs371310419
|
|
|
NM_001035.3(RYR2):c.6163T>C (p.Ser2055Pro)
|
rs746490469
|
|
|
NM_001035.3(RYR2):c.6166+13A>G
|
|
|
|
NM_001035.3(RYR2):c.6166+16G>A
|
|
|
|
NM_001035.3(RYR2):c.6166+6C>T
|
rs1679584792
|
|
|
NM_001035.3(RYR2):c.6166+7A>G
|
rs1679585107
|
|
|
NM_001035.3(RYR2):c.6167-13A>G
|
|
|
|
NM_001035.3(RYR2):c.6167-16C>T
|
|
|
|
NM_001035.3(RYR2):c.6167-7T>C
|
rs1679840771
|
|
|
NM_001035.3(RYR2):c.6170C>T (p.Thr2057Ile)
|
rs1679842104
|
|
|
NM_001035.3(RYR2):c.6171T>G (p.Thr2057=)
|
rs2148666530
|
|
|
NM_001035.3(RYR2):c.6191A>G (p.Glu2064Gly)
|
|
|
|
NM_001035.3(RYR2):c.6195C>T (p.Thr2065=)
|
rs1244724940
|
|
|
NM_001035.3(RYR2):c.6202C>T (p.Arg2068Ter)
|
rs1679845277
|
|
|
NM_001035.3(RYR2):c.6212A>C (p.Gln2071Pro)
|
rs1426800953
|
|
|
NM_001035.3(RYR2):c.6216G>A (p.Glu2072=)
|
rs886046271
|
|
|
NM_001035.3(RYR2):c.6231C>A (p.Asp2077Glu)
|
rs1407541809
|
|
|
NM_001035.3(RYR2):c.6235G>A (p.Glu2079Lys)
|
|
|
|
NM_001035.3(RYR2):c.623A>C (p.Gln208Pro)
|
rs778071716
|
|
|
NM_001035.3(RYR2):c.6245G>A (p.Arg2082Lys)
|
|
|
|
NM_001035.3(RYR2):c.6249C>T (p.Ala2083=)
|
rs2148666906
|
|
|
NM_001035.3(RYR2):c.6268C>T (p.Arg2090Trp)
|
rs1284802339
|
|
|
NM_001035.3(RYR2):c.6273G>A (p.Gln2091=)
|
|
|
|
NM_001035.3(RYR2):c.6274T>C (p.Tyr2092His)
|
|
|
|
NM_001035.3(RYR2):c.6293T>G (p.Leu2098Arg)
|
rs2148667139
|
|
|
NM_001035.3(RYR2):c.6295G>A (p.Val2099Ile)
|
rs767569006
|
|
|
NM_001035.3(RYR2):c.6298C>T (p.Arg2100Trp)
|
rs753164125
|
|
|
NM_001035.3(RYR2):c.6302C>T (p.Ala2101Val)
|
rs2148667213
|
|
|
NM_001035.3(RYR2):c.630T>A (p.Thr210=)
|
|
|
|
NM_001035.3(RYR2):c.6310A>C (p.Lys2104Gln)
|
rs2148667245
|
|
|
NM_001035.3(RYR2):c.6314C>T (p.Thr2105Ile)
|
rs2148667252
|
|
|
NM_001035.3(RYR2):c.6318C>T (p.Tyr2106=)
|
rs2148667270
|
|
|
NM_001035.3(RYR2):c.6322A>G (p.Ile2108Val)
|
rs2148667315
|
|
|
NM_001035.3(RYR2):c.6327T>C (p.Asn2109=)
|
|
|
|
NM_001035.3(RYR2):c.6331G>T (p.Val2111Leu)
|
rs2148667347
|
|
|
NM_001035.3(RYR2):c.6348C>A (p.Thr2116=)
|
|
|
|
NM_001035.3(RYR2):c.6349A>G (p.Ile2117Val)
|
|
|
|
NM_001035.3(RYR2):c.6367C>T (p.Leu2123Phe)
|
rs1060500159
|
|
|
NM_001035.3(RYR2):c.6380G>A (p.Arg2127Gln)
|
rs397516547
|
|
|
NM_001035.3(RYR2):c.6381G>T (p.Arg2127=)
|
|
|
|
NM_001035.3(RYR2):c.638G>A (p.Ser213Asn)
|
rs1702026122
|
|
|
NM_001035.3(RYR2):c.6390G>T (p.Leu2130=)
|
|
|
|
NM_001035.3(RYR2):c.6394G>C (p.Val2132Leu)
|
rs1553531684
|
|
|
NM_001035.3(RYR2):c.639C>A (p.Ser213Arg)
|
rs375180398
|
|
|
NM_001035.3(RYR2):c.6408A>C (p.Lys2136Asn)
|
rs2148667612
|
|
|
NM_001035.3(RYR2):c.6412G>A (p.Glu2138Lys)
|
rs1553531703
|
|
|
NM_001035.3(RYR2):c.6419A>C (p.Lys2140Thr)
|
rs1443634453
|
|
|
NM_001035.3(RYR2):c.6420G>A (p.Lys2140=)
|
rs2148667663
|
|
|
NM_001035.3(RYR2):c.6429T>A (p.Ile2143=)
|
rs2148667697
|
|
|
NM_001035.3(RYR2):c.6435A>T (p.Gly2145=)
|
rs1388675043
|
|
|
NM_001035.3(RYR2):c.6440+17C>A
|
|
|
|
NM_001035.3(RYR2):c.6441-16C>A
|
|
|
|
NM_001035.3(RYR2):c.6441-18G>A
|
rs772385198
|
|
|
NM_001035.3(RYR2):c.6441-18G>T
|
|
|
|
NM_001035.3(RYR2):c.6441-9C>G
|
rs777133390
|
|
|
NM_001035.3(RYR2):c.6441-9C>T
|
|
|
|
NM_001035.3(RYR2):c.6452A>T (p.Asn2151Ile)
|
|
|
|
NM_001035.3(RYR2):c.6472C>G (p.His2158Asp)
|
rs1680241133
|
|
|
NM_001035.3(RYR2):c.6476C>A (p.Pro2159His)
|
rs1680241596
|
|
|
NM_001035.3(RYR2):c.6484A>C (p.Met2162Leu)
|
rs1680242037
|
|
|
NM_001035.3(RYR2):c.6504C>A (p.His2168Gln)
|
rs760237464
|
|
|
NM_001035.3(RYR2):c.6504C>G (p.His2168Gln)
|
rs760237464
|
|
|
NM_001035.3(RYR2):c.6506A>G (p.Glu2169Gly)
|
rs1064794183
|
|
|
NM_001035.3(RYR2):c.6510T>C (p.Thr2170=)
|
rs901453964
|
|
|
NM_001035.3(RYR2):c.6513G>A (p.Val2171=)
|
|
|
|
NM_001035.3(RYR2):c.6519G>A (p.Glu2173=)
|
|
|
|
NM_001035.3(RYR2):c.6520G>T (p.Val2174Phe)
|
rs1131692321
|
|
|
NM_001035.3(RYR2):c.6531C>G (p.Asn2177Lys)
|
rs757298566
|
|
|
NM_001035.3(RYR2):c.6531C>T (p.Asn2177=)
|
|
|
|
NM_001035.3(RYR2):c.6532G>A (p.Val2178Ile)
|
rs794728821
|
|
|
NM_001035.3(RYR2):c.6546A>G (p.Gly2182=)
|
|
|
|
NM_001035.3(RYR2):c.6549_6555+3dup
|
|
|
|
NM_001035.3(RYR2):c.6555+19dup
|
|
|
|
NM_001035.3(RYR2):c.6555+8C>G
|
rs1759122
|
|
|
NM_001035.3(RYR2):c.6556-11T>C
|
rs372925188
|
|
|
NM_001035.3(RYR2):c.6556-16C>T
|
rs1160418526
|
|
|
NM_001035.3(RYR2):c.6556-9T>C
|
|
|
|
NM_001035.3(RYR2):c.6568C>A (p.Pro2190Thr)
|
rs1558103839
|
|
|
NM_001035.3(RYR2):c.6574A>G (p.Met2192Val)
|
|
|
|
NM_001035.3(RYR2):c.6580G>T (p.Ala2194Ser)
|
|
|
|
NM_001035.3(RYR2):c.6585C>G (p.Asn2195Lys)
|
rs2148700748
|
|
|
NM_001035.3(RYR2):c.6587G>A (p.Cys2196Tyr)
|
rs1680567505
|
|
|
NM_001035.3(RYR2):c.6593G>A (p.Arg2198His)
|
rs375935636
|
|
|
NM_001035.3(RYR2):c.6598C>G (p.Leu2200Val)
|
|
|
|
NM_001035.3(RYR2):c.659G>A (p.Gly220Glu)
|
rs786205454
|
|
|
NM_001035.3(RYR2):c.6600C>G (p.Leu2200=)
|
|
|
|
NM_001035.3(RYR2):c.6602G>A (p.Cys2201Tyr)
|
|
|
|
NM_001035.3(RYR2):c.6603T>G (p.Cys2201Trp)
|
rs2148700795
|
|
|
NM_001035.3(RYR2):c.6613C>G (p.Arg2205Gly)
|
rs1558103888
|
|
|
NM_001035.3(RYR2):c.6613C>T (p.Arg2205Cys)
|
rs1558103888
|
|
|
NM_001035.3(RYR2):c.6615T>A (p.Arg2205=)
|
|
|
|
NM_001035.3(RYR2):c.661A>G (p.Ser221Gly)
|
rs1553431798
|
|
|
NM_001035.3(RYR2):c.6632A>C (p.Gln2211Pro)
|
|
|
|
NM_001035.3(RYR2):c.6637G>T (p.Ala2213Ser)
|
rs1680569929
|
|
|
NM_001035.3(RYR2):c.6637_6644delinsTCAAAATAAC (p.Ala2213_Phe2215delinsSerLysTer)
|
rs1680570117
|
|
|
NM_001035.3(RYR2):c.6638C>T (p.Ala2213Val)
|
rs1060500144
|
|
|
NM_001035.3(RYR2):c.6639T>A (p.Ala2213=)
|
rs2148700970
|
|
|
NM_001035.3(RYR2):c.663T>C (p.Ser221=)
|
|
|
|
NM_001035.3(RYR2):c.6646G>C (p.Asp2216His)
|
rs1558103974
|
|
|
NM_001035.3(RYR2):c.6647A>G (p.Asp2216Gly)
|
rs1328318082
|
|
|
NM_001035.3(RYR2):c.6649C>T (p.His2217Tyr)
|
rs1372052481
|
|
|
NM_001035.3(RYR2):c.6656G>T (p.Ser2219Ile)
|
rs774615963
|
|
|
NM_001035.3(RYR2):c.6664C>T (p.Leu2222=)
|
|
|
|
NM_001035.3(RYR2):c.6667G>C (p.Glu2223Gln)
|
|
|
|
NM_001035.3(RYR2):c.667G>A (p.Ala223Thr)
|
rs1558732422
|
|
|
NM_001035.3(RYR2):c.6686T>C (p.Leu2229Pro)
|
rs1680574380
|
|
|
NM_001035.3(RYR2):c.6689-15C>T
|
|
|
|
NM_001035.3(RYR2):c.6689-18C>T
|
|
|
|
NM_001035.3(RYR2):c.6689-1G>A
|
rs794728822
|
|
|
NM_001035.3(RYR2):c.6689-3T>A
|
rs886046272
|
|
|
NM_001035.3(RYR2):c.6690C>G (p.Ala2230=)
|
rs1558107135
|
|
|
NM_001035.3(RYR2):c.6693C>G (p.Ser2231=)
|
rs1426565026
|
|
|
NM_001035.3(RYR2):c.6693C>T (p.Ser2231=)
|
rs1426565026
|
|
|
NM_001035.3(RYR2):c.6702G>C (p.Met2234Ile)
|
|
|
|
NM_001035.3(RYR2):c.6705A>G (p.Arg2235=)
|
|
|
|
NM_001035.3(RYR2):c.6706G>A (p.Gly2236Ser)
|
rs1680719186
|
|
|
NM_001035.3(RYR2):c.6711A>G (p.Ser2237=)
|
|
|
|
NM_001035.3(RYR2):c.6713C>T (p.Thr2238Ile)
|
rs2148707248
|
|
|
NM_001035.3(RYR2):c.6716C>T (p.Pro2239Leu)
|
rs1680720163
|
|
|
NM_001035.3(RYR2):c.6717A>G (p.Pro2239=)
|
rs1288613413
|
|
|
NM_001035.3(RYR2):c.671C>T (p.Ala224Val)
|
|
|
|
NM_001035.3(RYR2):c.672C>A (p.Ala224=)
|
rs1572092448
|
|
|
NM_001035.3(RYR2):c.6730G>A (p.Ala2244Thr)
|
|
|
|
NM_001035.3(RYR2):c.6737C>T (p.Ser2246Leu)
|
rs121918597
|
|
|
NM_001035.3(RYR2):c.6738G>A (p.Ser2246=)
|
rs368207198
|
|
|
NM_001035.3(RYR2):c.6743T>C (p.Met2248Thr)
|
|
|
|
NM_001035.3(RYR2):c.6749A>T (p.Asn2250Ile)
|
rs2148707460
|
|
|
NM_001035.3(RYR2):c.6754G>A (p.Glu2252Lys)
|
rs1318607228
|
|
|
NM_001035.3(RYR2):c.676+12A>C
|
rs760974801
|
|
|
NM_001035.3(RYR2):c.676+3A>G
|
rs1702028230
|
|
|
NM_001035.3(RYR2):c.6760G>A (p.Ala2254Thr)
|
rs1680726117
|
|
|
NM_001035.3(RYR2):c.6762A>G (p.Ala2254=)
|
rs1043486693
|
|
|
NM_001035.3(RYR2):c.677-11T>C
|
rs10754602
|
|
|
NM_001035.3(RYR2):c.677-18G>A
|
|
|
|
NM_001035.3(RYR2):c.677-7C>G
|
rs747407654
|
|
|
NM_001035.3(RYR2):c.6773G>C (p.Arg2258Pro)
|
rs779289104
|
|
|
NM_001035.3(RYR2):c.677G>A (p.Gly226Glu)
|
rs1702087452
|
|
|
NM_001035.3(RYR2):c.6780G>C (p.Pro2260=)
|
rs758855412
|
|
|
NM_001035.3(RYR2):c.6792+14C>T
|
|
|
|
NM_001035.3(RYR2):c.6792+16G>T
|
|
|
|
NM_001035.3(RYR2):c.6792+17C>A
|
|
|
|
NM_001035.3(RYR2):c.6792+18C>T
|
rs1350816716
|
|
|
NM_001035.3(RYR2):c.6792+5G>A
|
rs1410840833
|
|
|
NM_001035.3(RYR2):c.6792G>C (p.Lys2264Asn)
|
rs1680728738
|
|
|
NM_001035.3(RYR2):c.6792G>T (p.Lys2264Asn)
|
rs1680728738
|
|
|
NM_001035.3(RYR2):c.6793-4G>A
|
rs568936247
|
|
|
NM_001035.3(RYR2):c.6793-5T>G
|
rs1060500148
|
|
|
NM_001035.3(RYR2):c.6795A>G (p.Val2265=)
|
|
|
|
NM_001035.3(RYR2):c.6811G>T (p.Gly2271Cys)
|
rs375371340
|
|
|
NM_001035.3(RYR2):c.6817G>A (p.Gly2273Arg)
|
rs1681095773
|
|
|
NM_001035.3(RYR2):c.6827G>T (p.Ser2276Ile)
|
rs1247927726
|
|
|
NM_001035.3(RYR2):c.682C>G (p.Leu228Val)
|
|
|
|
NM_001035.3(RYR2):c.682C>T (p.Leu228Phe)
|
|
|
|
NM_001035.3(RYR2):c.6831C>T (p.Cys2277=)
|
|
|
|
NM_001035.3(RYR2):c.6834G>C (p.Gln2278His)
|
rs1269962708
|
|
|
NM_001035.3(RYR2):c.6850G>T (p.Gly2284Cys)
|
|
|
|
NM_001035.3(RYR2):c.6853T>A (p.Tyr2285Asn)
|
rs1681099721
|
|
|
NM_001035.3(RYR2):c.6858A>G (p.Pro2286=)
|
rs2148724106
|
|
|
NM_001035.3(RYR2):c.685A>C (p.Ile229Leu)
|
|
|
|
NM_001035.3(RYR2):c.685A>T (p.Ile229Phe)
|
rs368653489
|
|
|
NM_001035.3(RYR2):c.6867G>A (p.Gly2289=)
|
rs778358338
|
|
|
NM_001035.3(RYR2):c.6871A>G (p.Asn2291Asp)
|
rs1681101676
|
|
|
NM_001035.3(RYR2):c.6873C>A (p.Asn2291Lys)
|
|
|
|
NM_001035.3(RYR2):c.6880G>A (p.Glu2294Lys)
|
rs1238576332
|
|
|
NM_001035.3(RYR2):c.6886G>A (p.Glu2296Lys)
|
rs1060500156
|
|
|
NM_001035.3(RYR2):c.6895C>G (p.Leu2299Val)
|
rs2148724365
|
|
|
NM_001035.3(RYR2):c.6898G>C (p.Asp2300His)
|
|
|
|
NM_001035.3(RYR2):c.6899A>G (p.Asp2300Gly)
|
rs1681104142
|
|
|
NM_001035.3(RYR2):c.689G>A (p.Gly230Asp)
|
rs794728710
|
|
|
NM_001035.3(RYR2):c.6900C>G (p.Asp2300Glu)
|
rs2148724390
|
|
|
NM_001035.3(RYR2):c.6906_6907delinsCC (p.Leu2302_Arg2303=)
|
rs2148724444
|
|
|
NM_001035.3(RYR2):c.6911T>C (p.Phe2304Ser)
|
rs2148724464
|
|
|
NM_001035.3(RYR2):c.6916G>A (p.Val2306Ile)
|
rs794728746
|
|
|
NM_001035.3(RYR2):c.6916G>T (p.Val2306Phe)
|
|
|
|
NM_001035.3(RYR2):c.691G>T (p.Gly231Cys)
|
rs2149847466
|
|
|
NM_001035.3(RYR2):c.6922T>C (p.Cys2308Arg)
|
rs1681106353
|
|
|
NM_001035.3(RYR2):c.6927T>C (p.Asn2309=)
|
|
|
|
NM_001035.3(RYR2):c.6928+15C>T
|
|
|
|
NM_001035.3(RYR2):c.6928+17T>C
|
|
|
|
NM_001035.3(RYR2):c.6928+8T>C
|
rs2148724639
|
|
|
NM_001035.3(RYR2):c.6929-16C>T
|
rs2148727288
|
|
|
NM_001035.3(RYR2):c.6929-20T>C
|
|
|
|
NM_001035.3(RYR2):c.6929-6C>T
|
|
|
|
NM_001035.3(RYR2):c.6929-8T>G
|
rs1405186238
|
|
|
NM_001035.3(RYR2):c.6933G>C (p.Glu2311Asp)
|
rs794728747
|
|
|
NM_001035.3(RYR2):c.6934A>G (p.Ser2312Gly)
|
rs1060500164
|
|
|
NM_001035.3(RYR2):c.6938T>C (p.Val2313Ala)
|
rs1681171235
|
|
|
NM_001035.3(RYR2):c.693T>C (p.Gly231=)
|
|
|
|
NM_001035.3(RYR2):c.6950C>T (p.Ala2317Val)
|
rs794728750
|
|
|
NM_001035.3(RYR2):c.6951A>G (p.Ala2317=)
|
|
|
|
NM_001035.3(RYR2):c.6954T>C (p.Asn2318=)
|
|
|
|
NM_001035.3(RYR2):c.6957_6959del (p.Val2321del)
|
rs794728834
|
|
|
NM_001035.3(RYR2):c.6958G>A (p.Val2320Met)
|
rs1057522884
|
|
|
NM_001035.3(RYR2):c.6963G>A (p.Val2321=)
|
rs2148727676
|
|
|
NM_001035.3(RYR2):c.6967T>G (p.Leu2323Val)
|
|
|
|
NM_001035.3(RYR2):c.6972C>T (p.Leu2324=)
|
rs770197614
|
|
|
NM_001035.3(RYR2):c.6973A>T (p.Ile2325Phe)
|
rs1060500138
|
|
|
NM_001035.3(RYR2):c.6982C>G (p.Pro2328Ala)
|
rs121918603
|
|
|
NM_001035.3(RYR2):c.6982C>T (p.Pro2328Ser)
|
rs121918603
|
|
|
NM_001035.3(RYR2):c.6983C>T (p.Pro2328Leu)
|
rs727503401
|
|
|
NM_001035.3(RYR2):c.6985G>A (p.Glu2329Lys)
|
|
|
|
NM_001035.3(RYR2):c.6994G>T (p.Gly2332Cys)
|
rs766508848
|
|
|
NM_001035.3(RYR2):c.6C>A (p.Ala2=)
|
rs1019441723
|
|
|
NM_001035.3(RYR2):c.6C>G (p.Ala2=)
|
rs1019441723
|
|
|
NM_001035.3(RYR2):c.7000G>A (p.Ala2334Thr)
|
rs1681178084
|
|
|
NM_001035.3(RYR2):c.7007GAG[1] (p.Gly2337del)
|
|
|
|
NM_001035.3(RYR2):c.7009G>A (p.Gly2337Arg)
|
rs1553263875
|
|
|
NM_001035.3(RYR2):c.7009G>C (p.Gly2337Arg)
|
rs1553263875
|
|
|
NM_001035.3(RYR2):c.7010G>A (p.Gly2337Glu)
|
|
|
|
NM_001035.3(RYR2):c.7020G>A (p.Gly2340=)
|
rs767884614
|
|
|
NM_001035.3(RYR2):c.7022A>G (p.Asn2341Ser)
|
rs1681180500
|
|
|
NM_001035.3(RYR2):c.7023T>C (p.Asn2341=)
|
|
|
|
NM_001035.3(RYR2):c.7025G>T (p.Gly2342Val)
|
rs794728751
|
|
|
NM_001035.3(RYR2):c.702C>T (p.Leu234=)
|
rs2149847517
|
|
|
NM_001035.3(RYR2):c.7030C>T (p.Leu2344Phe)
|
rs2148728141
|
|
|
NM_001035.3(RYR2):c.7031T>C (p.Leu2344Pro)
|
rs2148728162
|
|
|
NM_001035.3(RYR2):c.7035A>T (p.Ala2345=)
|
rs1681182291
|
|
|
NM_001035.3(RYR2):c.7045_7057del (p.Glu2349fs)
|
|
|
|
NM_001035.3(RYR2):c.7046A>G (p.Glu2349Gly)
|
|
|
|
NM_001035.3(RYR2):c.7050C>T (p.Ala2350=)
|
rs1573272712
|
|
|
NM_001035.3(RYR2):c.7052T>C (p.Ile2351Thr)
|
rs1282045319
|
|
|
NM_001035.3(RYR2):c.7059C>T (p.Ile2353=)
|
rs750016196
|
|
|
NM_001035.3(RYR2):c.705G>A (p.Arg235=)
|
|
|
|
NM_001035.3(RYR2):c.7060G>A (p.Ala2354Thr)
|
rs773070579
|
|
|
NM_001035.3(RYR2):c.7063_7064delinsTT (p.Glu2355Leu)
|
|
|
|
NM_001035.3(RYR2):c.7065G>A (p.Glu2355=)
|
rs1294243113
|
|
|
NM_001035.3(RYR2):c.706T>C (p.Leu236=)
|
rs1032660273
|
|
|
NM_001035.3(RYR2):c.7071T>A (p.Pro2357=)
|
rs1489908718
|
|
|
NM_001035.3(RYR2):c.7073C>A (p.Ser2358Tyr)
|
rs954868104
|
|
|
NM_001035.3(RYR2):c.7074C>T (p.Ser2358=)
|
rs2148728512
|
|
|
NM_001035.3(RYR2):c.7078G>A (p.Asp2360Asn)
|
|
|
|
NM_001035.3(RYR2):c.7081G>A (p.Gly2361Ser)
|
|
|
|
NM_001035.3(RYR2):c.7084C>G (p.Pro2362Ala)
|
rs1681189802
|
|
|
NM_001035.3(RYR2):c.7093A>G (p.Asn2365Asp)
|
rs2148728656
|
|
|
NM_001035.3(RYR2):c.7105A>G (p.Ser2369Gly)
|
rs1327450246
|
|
|
NM_001035.3(RYR2):c.7106G>A (p.Ser2369Asn)
|
|
|
|
NM_001035.3(RYR2):c.7108A>G (p.Lys2370Glu)
|
|
|
|
NM_001035.3(RYR2):c.7114C>A (p.Leu2372Ile)
|
rs765925963
|
|
|
NM_001035.3(RYR2):c.7114C>T (p.Leu2372Phe)
|
|
|
|
NM_001035.3(RYR2):c.7115+10A>G
|
rs1553264024
|
|
|
NM_001035.3(RYR2):c.7115+12A>G
|
|
|
|
NM_001035.3(RYR2):c.7115+13T>A
|
|
|
|
NM_001035.3(RYR2):c.7115+16A>G
|
rs754440462
|
|
|
NM_001035.3(RYR2):c.7115+19C>A
|
|
|
|
NM_001035.3(RYR2):c.7115+4G>T
|
rs1681194479
|
|
|
NM_001035.3(RYR2):c.7115+6T>G
|
rs2148728871
|
|
|
NM_001035.3(RYR2):c.7115+9A>G
|
rs2148728882
|
|
|
NM_001035.3(RYR2):c.7115T>C (p.Leu2372Pro)
|
rs1245506727
|
|
|
NM_001035.3(RYR2):c.7115T>G (p.Leu2372Arg)
|
rs1245506727
|
|
|
NM_001035.3(RYR2):c.7116-11A>G
|
|
|
|
NM_001035.3(RYR2):c.7116-11A>T
|
|
|
|
NM_001035.3(RYR2):c.7116-15A>C
|
rs1558120605
|
|
|
NM_001035.3(RYR2):c.7116-2A>G
|
rs2148738146
|
|
|
NM_001035.3(RYR2):c.711G>A (p.Leu237=)
|
rs759018901
|
|
|
NM_001035.3(RYR2):c.711G>C (p.Leu237=)
|
rs759018901
|
|
|
NM_001035.3(RYR2):c.7124A>G (p.Glu2375Gly)
|
rs1553264645
|
|
|
NM_001035.3(RYR2):c.7134A>G (p.Glu2378=)
|
|
|
|
NM_001035.3(RYR2):c.7134A>T (p.Glu2378Asp)
|
|
|
|
NM_001035.3(RYR2):c.7140C>T (p.Asp2380=)
|
rs2148738346
|
|
|
NM_001035.3(RYR2):c.7146C>A (p.Ile2382=)
|
rs1459450227
|
|
|
NM_001035.3(RYR2):c.7157A>T (p.Asn2386Ile)
|
rs121918601
|
|
|
NM_001035.3(RYR2):c.7158C>A (p.Asn2386Lys)
|
rs376057173
|
|
|
NM_001035.3(RYR2):c.7158C>G (p.Asn2386Lys)
|
rs376057173
|
|
|
NM_001035.3(RYR2):c.7159G>A (p.Ala2387Thr)
|
rs794728753
|
|
|
NM_001035.3(RYR2):c.7160C>T (p.Ala2387Val)
|
rs794728754
|
|
|
NM_001035.3(RYR2):c.7161G>A (p.Ala2387=)
|
rs371560909
|
|
|
NM_001035.3(RYR2):c.7161G>C (p.Ala2387=)
|
rs371560909
|
|
|
NM_001035.3(RYR2):c.7173C>T (p.Phe2391=)
|
|
|
|
NM_001035.3(RYR2):c.7175A>G (p.Tyr2392Cys)
|
|
|
|
NM_001035.3(RYR2):c.7177T>C (p.Ser2393Pro)
|
rs1553264716
|
|
|
NM_001035.3(RYR2):c.7195T>G (p.Leu2399Val)
|
rs1681407618
|
|
|
NM_001035.3(RYR2):c.7196T>A (p.Leu2399Ter)
|
rs1573284644
|
|
|
NM_001035.3(RYR2):c.7199G>A (p.Gly2400Glu)
|
rs1681408105
|
|
|
NM_001035.3(RYR2):c.7200A>T (p.Gly2400=)
|
rs777117043
|
|
|
NM_001035.3(RYR2):c.7202G>A (p.Arg2401His)
|
rs794728756
|
|
|
NM_001035.3(RYR2):c.7202G>T (p.Arg2401Leu)
|
rs794728756
|
|
|
NM_001035.3(RYR2):c.7207G>A (p.Ala2403Thr)
|
rs1456929288
|
|
|
NM_001035.3(RYR2):c.7210_7212del (p.Pro2404del)
|
rs1681410223
|
|
|
NM_001035.3(RYR2):c.7212T>C (p.Pro2404=)
|
rs377714735
|
|
|
NM_001035.3(RYR2):c.7213G>A (p.Glu2405Lys)
|
rs2148739141
|
|
|
NM_001035.3(RYR2):c.721A>G (p.Met241Val)
|
|
|
|
NM_001035.3(RYR2):c.7221+15G>C
|
|
|
|
NM_001035.3(RYR2):c.7221+18C>T
|
|
|
|
NM_001035.3(RYR2):c.7221+5G>A
|
|
|
|
NM_001035.3(RYR2):c.7221+5G>T
|
rs1060500153
|
|
|
NM_001035.3(RYR2):c.7221+9C>G
|
|
|
|
NM_001035.3(RYR2):c.7222-11C>G
|
|
|
|
NM_001035.3(RYR2):c.7222-11C>T
|
|
|
|
NM_001035.3(RYR2):c.7222-12T>G
|
rs540308433
|
|
|
NM_001035.3(RYR2):c.7222-12del
|
|
|
|
NM_001035.3(RYR2):c.7222-15T>A
|
rs1681763241
|
|
|
NM_001035.3(RYR2):c.7222-4A>G
|
rs564974610
|
|
|
NM_001035.3(RYR2):c.7222-5T>C
|
rs895002085
|
|
|
NM_001035.3(RYR2):c.7222-8dup
|
|
|
|
NM_001035.3(RYR2):c.7222-9C>T
|
rs780241690
|
|
|
NM_001035.3(RYR2):c.7225A>T (p.Ile2409Phe)
|
rs1553265773
|
|
|
NM_001035.3(RYR2):c.7227T>C (p.Ile2409=)
|
rs1681768739
|
|
|
NM_001035.3(RYR2):c.7232C>T (p.Ala2411Val)
|
|
|
|
NM_001035.3(RYR2):c.7233C>A (p.Ala2411=)
|
rs367994477
|
|
|
NM_001035.3(RYR2):c.724G>A (p.Asp242Asn)
|
rs1060499569
|
|
|
NM_001035.3(RYR2):c.724_725delinsAT (p.Asp242Ile)
|
rs1060500162
|
|
|
NM_001035.3(RYR2):c.7253G>C (p.Arg2418Thr)
|
|
|
|
NM_001035.3(RYR2):c.7256T>C (p.Ile2419Thr)
|
|
|
|
NM_001035.3(RYR2):c.7256T>G (p.Ile2419Ser)
|
rs1573300872
|
|
|
NM_001035.3(RYR2):c.7259G>C (p.Arg2420Thr)
|
rs1060500170
|
|
|
NM_001035.3(RYR2):c.725A>G (p.Asp242Gly)
|
rs1318491246
|
|
|
NM_001035.3(RYR2):c.725A>T (p.Asp242Val)
|
|
|
|
NM_001035.3(RYR2):c.7263C>A (p.Ser2421=)
|
|
|
|
NM_001035.3(RYR2):c.7267T>C (p.Leu2423=)
|
|
|
|
NM_001035.3(RYR2):c.7269G>T (p.Leu2423Phe)
|
|
|
|
NM_001035.3(RYR2):c.7272A>G (p.Arg2424=)
|
rs2148757919
|
|
|
NM_001035.3(RYR2):c.7276C>T (p.Leu2426Phe)
|
rs2148757954
|
|
|
NM_001035.3(RYR2):c.7277T>G (p.Leu2426Arg)
|
|
|
|
NM_001035.3(RYR2):c.7279A>G (p.Ile2427Val)
|
|
|
|
NM_001035.3(RYR2):c.727G>A (p.Glu243Lys)
|
rs794728712
|
|
|
NM_001035.3(RYR2):c.727G>C (p.Glu243Gln)
|
rs794728712
|
|
|
NM_001035.3(RYR2):c.7287G>A (p.Leu2429=)
|
rs876657578
|
|
|
NM_001035.3(RYR2):c.728A>G (p.Glu243Gly)
|
rs753663342
|
|
|
NM_001035.3(RYR2):c.7291G>T (p.Asp2431Tyr)
|
rs1553265823
|
|
|
NM_001035.3(RYR2):c.7303G>A (p.Val2435Ile)
|
|
|
|
NM_001035.3(RYR2):c.7303G>C (p.Val2435Leu)
|
rs188835713
|
|
|
NM_001035.3(RYR2):c.7304T>C (p.Val2435Ala)
|
|
|
|
NM_001035.3(RYR2):c.7306A>T (p.Ile2436Phe)
|
rs1681780165
|
|
|
NM_001035.3(RYR2):c.7310G>A (p.Ser2437Asn)
|
|
|
|
NM_001035.3(RYR2):c.7312A>G (p.Ile2438Val)
|
rs755072769
|
|
|
NM_001035.3(RYR2):c.7314C>A (p.Ile2438=)
|
rs374418643
|
|
|
NM_001035.3(RYR2):c.7314C>T (p.Ile2438=)
|
rs374418643
|
|
|
NM_001035.3(RYR2):c.7326G>A (p.Met2442Ile)
|
rs2148758415
|
|
|
NM_001035.3(RYR2):c.7330A>G (p.Thr2444Ala)
|
rs1681783995
|
|
|
NM_001035.3(RYR2):c.733C>G (p.Leu245Val)
|
rs2149847911
|
|
|
NM_001035.3(RYR2):c.7342+6G>A
|
rs2148758542
|
|
|
NM_001035.3(RYR2):c.7342+6G>T
|
|
|
|
NM_001035.3(RYR2):c.7342+9A>G
|
rs2148758575
|
|
|
NM_001035.3(RYR2):c.7343-1G>T
|
rs2148789350
|
|
|
NM_001035.3(RYR2):c.7343-2A>G
|
rs778152200
|
|
|
NM_001035.3(RYR2):c.7343-9C>T
|
rs372778902
|
|
|
NM_001035.3(RYR2):c.7350T>C (p.Asn2450=)
|
|
|
|
NM_001035.3(RYR2):c.7354G>T (p.Val2452Leu)
|
|
|
|
NM_001035.3(RYR2):c.7382G>A (p.Cys2461Tyr)
|
rs373193260
|
|
|
NM_001035.3(RYR2):c.7383C>T (p.Cys2461=)
|
rs373881578
|
|
|
NM_001035.3(RYR2):c.7391A>G (p.His2464Arg)
|
rs1558137849
|
|
|
NM_001035.3(RYR2):c.739G>A (p.Val247Ile)
|
rs1261194692
|
|
|
NM_001035.3(RYR2):c.7405G>A (p.Val2469Ile)
|
|
|
|
NM_001035.3(RYR2):c.7411T>C (p.Phe2471Leu)
|
rs2148789721
|
|
|
NM_001035.3(RYR2):c.7419C>G (p.Asp2473Glu)
|
|
|
|
NM_001035.3(RYR2):c.7419C>T (p.Asp2473=)
|
rs2148789761
|
|
|
NM_001035.3(RYR2):c.7420A>G (p.Arg2474Gly)
|
|
|
|
NM_001035.3(RYR2):c.7421G>A (p.Arg2474Lys)
|
rs2148789775
|
|
|
NM_001035.3(RYR2):c.7422G>C (p.Arg2474Ser)
|
rs121918598
|
|
|
NM_001035.3(RYR2):c.7424T>C (p.Val2475Ala)
|
rs1682400034
|
|
|
NM_001035.3(RYR2):c.7424_7431del (p.Val2475fs)
|
|
|
|
NM_001035.3(RYR2):c.7427A>G (p.Tyr2476Cys)
|
rs1573330149
|
|
|
NM_001035.3(RYR2):c.7427A>T (p.Tyr2476Phe)
|
rs1573330149
|
|
|
NM_001035.3(RYR2):c.7431G>A (p.Gly2477=)
|
rs1347991904
|
|
|
NM_001035.3(RYR2):c.7433T>C (p.Ile2478Thr)
|
rs2148789857
|
|
|
NM_001035.3(RYR2):c.7438G>T (p.Val2480Phe)
|
rs774182084
|
|
|
NM_001035.3(RYR2):c.7448TCC[2] (p.Leu2485del)
|
rs1682402356
|
|
|
NM_001035.3(RYR2):c.7449C>T (p.Phe2483=)
|
|
|
|
NM_001035.3(RYR2):c.7454T>A (p.Leu2485His)
|
rs1558138015
|
|
|
NM_001035.3(RYR2):c.7454T>C (p.Leu2485Pro)
|
|
|
|
NM_001035.3(RYR2):c.7456C>T (p.His2486Tyr)
|
rs1573330357
|
|
|
NM_001035.3(RYR2):c.7469T>C (p.Val2490Ala)
|
rs886041112
|
|
|
NM_001035.3(RYR2):c.7477C>G (p.Leu2493Val)
|
rs886046273
|
|
|
NM_001035.3(RYR2):c.7495G>T (p.Ala2499Ser)
|
rs191850147
|
|
|
NM_001035.3(RYR2):c.749G>T (p.Gly250Val)
|
rs376925177
|
|
|
NM_001035.3(RYR2):c.7501T>G (p.Ser2501Ala)
|
rs747787121
|
|
|
NM_001035.3(RYR2):c.7505T>C (p.Leu2502Ser)
|
rs1553267788
|
|
|
NM_001035.3(RYR2):c.750A>G (p.Gly250=)
|
rs1572095976
|
|
|
NM_001035.3(RYR2):c.7510A>G (p.Thr2504Ala)
|
rs1480448087
|
|
|
NM_001035.3(RYR2):c.7512+14G>T
|
rs748775701
|
|
|
NM_001035.3(RYR2):c.7512+3G>C
|
rs2148790353
|
|
|
NM_001035.3(RYR2):c.7512+7T>C
|
|
|
|
NM_001035.3(RYR2):c.7512+8T>C
|
rs1384500147
|
|
|
NM_001035.3(RYR2):c.7513-13G>C
|
|
|
|
NM_001035.3(RYR2):c.7513-17C>T
|
|
|
|
NM_001035.3(RYR2):c.7513-18T>C
|
|
|
|
NM_001035.3(RYR2):c.7513-20_7513-18del
|
|
|
|
NM_001035.3(RYR2):c.7513-8T>G
|
rs727503402
|
|
|
NM_001035.3(RYR2):c.7524T>C (p.Ser2508=)
|
rs2148796054
|
|
|
NM_001035.3(RYR2):c.7533C>T (p.Asp2511=)
|
rs975710456
|
|
|
NM_001035.3(RYR2):c.7534A>G (p.Met2512Val)
|
rs2148796155
|
|
|
NM_001035.3(RYR2):c.7535T>A (p.Met2512Lys)
|
rs778838507
|
|
|
NM_001035.3(RYR2):c.7538C>T (p.Ala2513Val)
|
|
|
|
NM_001035.3(RYR2):c.7539C>T (p.Ala2513=)
|
|
|
|
NM_001035.3(RYR2):c.7543G>A (p.Ala2515Thr)
|
rs1682556050
|
|
|
NM_001035.3(RYR2):c.7546C>T (p.Leu2516Phe)
|
rs775400701
|
|
|
NM_001035.3(RYR2):c.7554G>A (p.Arg2518=)
|
rs2148796286
|
|
|
NM_001035.3(RYR2):c.7558C>A (p.Leu2520Ile)
|
rs1060500136
|
|
|
NM_001035.3(RYR2):c.755A>G (p.His252Arg)
|
rs2149848141
|
|
|
NM_001035.3(RYR2):c.756T>C (p.His252=)
|
|
|
|
NM_001035.3(RYR2):c.7575G>A (p.Leu2525=)
|
rs1682560212
|
|
|
NM_001035.3(RYR2):c.7580T>G (p.Leu2527Trp)
|
rs1682561583
|
|
|
NM_001035.3(RYR2):c.7581G>A (p.Leu2527=)
|
rs1328285136
|
|
|
NM_001035.3(RYR2):c.7599T>C (p.Pro2533=)
|
rs886046274
|
|
|
NM_001035.3(RYR2):c.75C>G (p.Thr25=)
|
|
|
|
NM_001035.3(RYR2):c.7600C>G (p.Leu2534Val)
|
rs1553268221
|
|
|
NM_001035.3(RYR2):c.7601T>C (p.Leu2534Pro)
|
rs1276253444
|
|
|
NM_001035.3(RYR2):c.7602C>G (p.Leu2534=)
|
rs546732183
|
|
|
NM_001035.3(RYR2):c.7606G>C (p.Ala2536Pro)
|
|
|
|
NM_001035.3(RYR2):c.7624G>A (p.Ala2542Thr)
|
rs373602064
|
|
|
NM_001035.3(RYR2):c.7626_7627delinsCA (p.Ser2543Thr)
|
|
|
|
NM_001035.3(RYR2):c.7634T>C (p.Ile2545Thr)
|
rs758415895
|
|
|
NM_001035.3(RYR2):c.7659T>C (p.Tyr2553=)
|
|
|
|
NM_001035.3(RYR2):c.765G>A (p.Glu255=)
|
rs2149848184
|
|
|
NM_001035.3(RYR2):c.765G>C (p.Glu255Asp)
|
|
|
|
NM_001035.3(RYR2):c.7676G>T (p.Cys2559Phe)
|
|
|
|
NM_001035.3(RYR2):c.7681C>T (p.Leu2561Phe)
|
rs2148796916
|
|
|
NM_001035.3(RYR2):c.7697G>C (p.Arg2566Pro)
|
rs532016557
|
|
|
NM_001035.3(RYR2):c.7699G>A (p.Asp2567Asn)
|
|
|
|
NM_001035.3(RYR2):c.770G>A (p.Arg257Gln)
|
rs1023176208
|
|
|
NM_001035.3(RYR2):c.7710A>C (p.Glu2570Asp)
|
|
|
|
NM_001035.3(RYR2):c.7714T>G (p.Cys2572Gly)
|
rs750011838
|
|
|
NM_001035.3(RYR2):c.7725T>C (p.Ser2575=)
|
|
|
|
NM_001035.3(RYR2):c.773+14C>G
|
|
|
|
NM_001035.3(RYR2):c.773+4A>G
|
rs1702097862
|
|
|
NM_001035.3(RYR2):c.773+8C>A
|
rs1394250066
|
|
|
NM_001035.3(RYR2):c.773+9C>A
|
|
|
|
NM_001035.3(RYR2):c.7733+13C>A
|
|
|
|
NM_001035.3(RYR2):c.7733+8G>C
|
rs1426151116
|
|
|
NM_001035.3(RYR2):c.7733+8G>T
|
|
|
|
NM_001035.3(RYR2):c.7734-15G>A
|
|
|
|
NM_001035.3(RYR2):c.7734-19_7734-16dup
|
|
|
|
NM_001035.3(RYR2):c.7734-4A>G
|
rs913227817
|
|
|
NM_001035.3(RYR2):c.7734-5A>G
|
rs1438144185
|
|
|
NM_001035.3(RYR2):c.7736A>G (p.Gln2579Arg)
|
rs1573345482
|
|
|
NM_001035.3(RYR2):c.7738C>T (p.Leu2580=)
|
|
|
|
NM_001035.3(RYR2):c.774-14G>A
|
rs370114411
|
|
|
NM_001035.3(RYR2):c.774-17T>G
|
|
|
|
NM_001035.3(RYR2):c.774-21TTTG[2]
|
|
|
|
NM_001035.3(RYR2):c.774-8T>C
|
|
|
|
NM_001035.3(RYR2):c.7742G>A (p.Arg2581Lys)
|
rs1682718413
|
|
|
NM_001035.3(RYR2):c.7746T>G (p.Pro2582=)
|
rs1682719111
|
|
|
NM_001035.3(RYR2):c.7754T>C (p.Met2585Thr)
|
rs1682720451
|
|
|
NM_001035.3(RYR2):c.7762T>C (p.Leu2588=)
|
rs2148804004
|
|
|
NM_001035.3(RYR2):c.776C>T (p.Thr259Ile)
|
rs758585307
|
|
|
NM_001035.3(RYR2):c.7774T>G (p.Leu2592Val)
|
rs761019645
|
|
|
NM_001035.3(RYR2):c.7783G>A (p.Asp2595Asn)
|
|
|
|
NM_001035.3(RYR2):c.7784A>G (p.Asp2595Gly)
|
rs2148804103
|
|
|
NM_001035.3(RYR2):c.7791A>G (p.Pro2597=)
|
|
|
|
NM_001035.3(RYR2):c.7808C>G (p.Ala2603Gly)
|
|
|
|
NM_001035.3(RYR2):c.7808C>T (p.Ala2603Val)
|
rs752607318
|
|
|
NM_001035.3(RYR2):c.7819C>G (p.Leu2607Val)
|
rs1682727518
|
|
|
NM_001035.3(RYR2):c.7824+16G>A
|
rs749424932
|
|
|
NM_001035.3(RYR2):c.7824+18T>C
|
|
|
|
NM_001035.3(RYR2):c.7825-10T>A
|
rs1441653928
|
|
|
NM_001035.3(RYR2):c.7825-10del
|
|
|
|
NM_001035.3(RYR2):c.7825-1G>A
|
|
|
|
NM_001035.3(RYR2):c.7825C>T (p.Leu2609=)
|
rs767568460
|
|
|
NM_001035.3(RYR2):c.7851C>T (p.Cys2617=)
|
rs752625888
|
|
|
NM_001035.3(RYR2):c.7856A>T (p.Lys2619Ile)
|
rs2148817475
|
|
|
NM_001035.3(RYR2):c.7859A>G (p.Tyr2620Cys)
|
rs1683039143
|
|
|
NM_001035.3(RYR2):c.7869G>C (p.Leu2623=)
|
|
|
|
NM_001035.3(RYR2):c.786T>C (p.Tyr262=)
|
|
|
|
NM_001035.3(RYR2):c.7874G>C (p.Gly2625Ala)
|
rs1331814541
|
|
|
NM_001035.3(RYR2):c.7878G>T (p.Gly2626=)
|
rs1553269593
|
|
|
NM_001035.3(RYR2):c.7895C>T (p.Ala2632Val)
|
rs1218556750
|
|
|
NM_001035.3(RYR2):c.7896T>C (p.Ala2632=)
|
|
|
|
NM_001035.3(RYR2):c.7897G>A (p.Ala2633Thr)
|
rs1683042825
|
|
|
NM_001035.3(RYR2):c.7902A>G (p.Ser2634=)
|
|
|
|
NM_001035.3(RYR2):c.7906G>A (p.Glu2636Lys)
|
rs1683044033
|
|
|
NM_001035.3(RYR2):c.7927A>C (p.Lys2643Gln)
|
|
|
|
NM_001035.3(RYR2):c.7929G>A (p.Lys2643=)
|
rs758412310
|
|
|
NM_001035.3(RYR2):c.792_800del (p.Gly265_Val267del)
|
rs1305758482
|
|
|
NM_001035.3(RYR2):c.7940G>T (p.Gly2647Val)
|
rs776908944
|
|
|
NM_001035.3(RYR2):c.7952C>T (p.Ala2651Val)
|
rs1259240846
|
|
|
NM_001035.3(RYR2):c.7954C>T (p.Leu2652=)
|
|
|
|
NM_001035.3(RYR2):c.7958C>A (p.Ser2653Tyr)
|
rs1553269691
|
|
|
NM_001035.3(RYR2):c.7959T>C (p.Ser2653=)
|
rs2148817903
|
|
|
NM_001035.3(RYR2):c.7965+20G>A
|
|
|
|
NM_001035.3(RYR2):c.7966-11A>G
|
|
|
|
NM_001035.3(RYR2):c.7966-15C>T
|
|
|
|
NM_001035.3(RYR2):c.7966-16C>T
|
|
|
|
NM_001035.3(RYR2):c.7966-19G>T
|
|
|
|
NM_001035.3(RYR2):c.7966-1G>C
|
rs1553270488
|
|
|
NM_001035.3(RYR2):c.7966-2A>G
|
|
|
|
NM_001035.3(RYR2):c.7966-6T>C
|
rs2148823040
|
|
|
NM_001035.3(RYR2):c.796G>T (p.Ala266Ser)
|
|
|
|
NM_001035.3(RYR2):c.7984T>G (p.Phe2662Val)
|
rs2148823138
|
|
|
NM_001035.3(RYR2):c.798T>C (p.Ala266=)
|
|
|
|
NM_001035.3(RYR2):c.7996C>A (p.Leu2666Met)
|
rs370333448
|
|
|
NM_001035.3(RYR2):c.799G>T (p.Val267Leu)
|
|
|
|
NM_001035.3(RYR2):c.8000C>G (p.Pro2667Arg)
|
rs1683196054
|
|
|
NM_001035.3(RYR2):c.8013A>T (p.Ala2671=)
|
rs1237709417
|
|
|
NM_001035.3(RYR2):c.8014G>C (p.Val2672Leu)
|
rs1467546989
|
|
|
NM_001035.3(RYR2):c.801_802delinsAA (p.Ser268Thr)
|
rs2150028824
|
|
|
NM_001035.3(RYR2):c.8033C>T (p.Pro2678Leu)
|
|
|
|
NM_001035.3(RYR2):c.8034A>G (p.Pro2678=)
|
rs1292632486
|
|
|
NM_001035.3(RYR2):c.8038T>G (p.Tyr2680Asp)
|
rs181732213
|
|
|
NM_001035.3(RYR2):c.8048C>T (p.Ser2683Leu)
|
rs776621043
|
|
|
NM_001035.3(RYR2):c.804T>G (p.Ser268=)
|
|
|
|
NM_001035.3(RYR2):c.8060G>T (p.Ser2687Ile)
|
|
|
|
NM_001035.3(RYR2):c.8070A>G (p.Glu2690=)
|
rs1683203086
|
|
|
NM_001035.3(RYR2):c.8073del (p.Lys2691fs)
|
|
|
|
NM_001035.3(RYR2):c.8075A>T (p.Gln2692Leu)
|
|
|
|
NM_001035.3(RYR2):c.8076G>A (p.Gln2692=)
|
rs1425029026
|
|
|
NM_001035.3(RYR2):c.8079A>G (p.Ser2693=)
|
|
|
|
NM_001035.3(RYR2):c.807T>C (p.Val269=)
|
|
|
|
NM_001035.3(RYR2):c.80C>G (p.Thr27Ser)
|
rs1399536009
|
|
|
NM_001035.3(RYR2):c.8103T>C (p.Phe2701=)
|
|
|
|
NM_001035.3(RYR2):c.811G>A (p.Ala271Thr)
|
|
|
|
NM_001035.3(RYR2):c.8120A>G (p.Asp2707Gly)
|
|
|
|
NM_001035.3(RYR2):c.8124C>T (p.Thr2708=)
|
|
|
|
NM_001035.3(RYR2):c.8129+10C>T
|
rs2148823810
|
|
|
NM_001035.3(RYR2):c.8129+14C>T
|
|
|
|
NM_001035.3(RYR2):c.8129+16A>G
|
|
|
|
NM_001035.3(RYR2):c.8129+18T>A
|
|
|
|
NM_001035.3(RYR2):c.8129+4T>C
|
rs1683207512
|
|
|
NM_001035.3(RYR2):c.8130-12C>A
|
rs1683411144
|
|
|
NM_001035.3(RYR2):c.8130-13A>G
|
|
|
|
NM_001035.3(RYR2):c.8130-7C>T
|
|
|
|
NM_001035.3(RYR2):c.814C>T (p.Arg272Cys)
|
rs771847292
|
|
|
NM_001035.3(RYR2):c.8151G>A (p.Leu2717=)
|
rs1361143892
|
|
|
NM_001035.3(RYR2):c.8155T>C (p.Tyr2719His)
|
|
|
|
NM_001035.3(RYR2):c.8157C>T (p.Tyr2719=)
|
|
|
|
NM_001035.3(RYR2):c.815G>A (p.Arg272His)
|
rs377368967
|
|
|
NM_001035.3(RYR2):c.8176G>A (p.Glu2726Lys)
|
rs1683416070
|
|
|
NM_001035.3(RYR2):c.8188G>A (p.Asp2730Asn)
|
rs1683417536
|
|
|
NM_001035.3(RYR2):c.818C>T (p.Ser273Phe)
|
rs794728715
|
|
|
NM_001035.3(RYR2):c.8195G>T (p.Trp2732Leu)
|
rs1553271224
|
|
|
NM_001035.3(RYR2):c.81C>G (p.Thr27=)
|
rs919652347
|
|
|
NM_001035.3(RYR2):c.8204A>G (p.Asp2735Gly)
|
rs1213772557
|
|
|
NM_001035.3(RYR2):c.8208+10G>A
|
|
|
|
NM_001035.3(RYR2):c.8208+18T>A
|
rs1340011974
|
|
|
NM_001035.3(RYR2):c.8208+1G>A
|
rs1683419269
|
|
|
NM_001035.3(RYR2):c.8209-11C>T
|
rs1032335005
|
|
|
NM_001035.3(RYR2):c.8209-12C>T
|
|
|
|
NM_001035.3(RYR2):c.8209-13G>A
|
rs759582222
|
|
|
NM_001035.3(RYR2):c.8209-14T>G
|
|
|
|
NM_001035.3(RYR2):c.8209-6T>C
|
|
|
|
NM_001035.3(RYR2):c.8209-7_8209-4del
|
rs876657992
|
|
|
NM_001035.3(RYR2):c.820C>G (p.Leu274Val)
|
|
|
|
NM_001035.3(RYR2):c.8210T>A (p.Leu2737Ter)
|
|
|
|
NM_001035.3(RYR2):c.8222G>A (p.Trp2741Ter)
|
|
|
|
NM_001035.3(RYR2):c.8228A>C (p.Tyr2743Ser)
|
|
|
|
NM_001035.3(RYR2):c.822T>C (p.Leu274=)
|
|
|
|
NM_001035.3(RYR2):c.8231G>A (p.Gly2744Glu)
|
|
|
|
NM_001035.3(RYR2):c.8238A>G (p.Ile2746Met)
|
|
|
|
NM_001035.3(RYR2):c.8247C>T (p.Asp2749=)
|
rs878854161
|
|
|
NM_001035.3(RYR2):c.824G>A (p.Trp275Ter)
|
rs2150028964
|
|
|
NM_001035.3(RYR2):c.8262G>T (p.Gln2754His)
|
rs773748242
|
|
|
NM_001035.3(RYR2):c.8268A>G (p.Leu2756=)
|
|
|
|
NM_001035.3(RYR2):c.8274G>A (p.Lys2758=)
|
rs1035038004
|
|
|
NM_001035.3(RYR2):c.8277A>G (p.Pro2759=)
|
rs2148841899
|
|
|
NM_001035.3(RYR2):c.8286A>G (p.Leu2762=)
|
rs747555778
|
|
|
NM_001035.3(RYR2):c.8298+17del
|
|
|
|
NM_001035.3(RYR2):c.8298+18_8298+21del
|
rs1269850855
|
|
|
NM_001035.3(RYR2):c.8298+1G>T
|
|
|
|
NM_001035.3(RYR2):c.8298+7A>T
|
|
|
|
NM_001035.3(RYR2):c.8309T>A (p.Ile2770Asn)
|
|
|
|
NM_001035.3(RYR2):c.8315G>A (p.Arg2772His)
|
|
|
|
NM_001035.3(RYR2):c.8315G>T (p.Arg2772Leu)
|
rs922927449
|
|
|
NM_001035.3(RYR2):c.8322A>C (p.Pro2774=)
|
rs1553272172
|
|
|
NM_001035.3(RYR2):c.8332T>C (p.Ser2778Pro)
|
rs1573391679
|
|
|
NM_001035.3(RYR2):c.833A>G (p.Glu278Gly)
|
|
|
|
NM_001035.3(RYR2):c.8342C>G (p.Thr2781Ser)
|
rs369963696
|
|
|
NM_001035.3(RYR2):c.8344A>G (p.Met2782Val)
|
|
|
|
NM_001035.3(RYR2):c.8346G>A (p.Met2782Ile)
|
rs1683716140
|
|
|
NM_001035.3(RYR2):c.834G>A (p.Glu278=)
|
rs776594549
|
|
|
NM_001035.3(RYR2):c.8350G>T (p.Ala2784Ser)
|
rs1458501318
|
|
|
NM_001035.3(RYR2):c.8353T>C (p.Trp2785Arg)
|
|
|
|
NM_001035.3(RYR2):c.8357G>T (p.Gly2786Val)
|
rs1060500149
|
|
|
NM_001035.3(RYR2):c.8366T>C (p.Ile2789Thr)
|
rs1419719746
|
|
|
NM_001035.3(RYR2):c.8370A>T (p.Glu2790Asp)
|
|
|
|
NM_001035.3(RYR2):c.8372G>T (p.Arg2791Ile)
|
rs2148846476
|
|
|
NM_001035.3(RYR2):c.8379G>T (p.Arg2793=)
|
|
|
|
NM_001035.3(RYR2):c.837G>T (p.Thr279=)
|
rs769682840
|
|
|
NM_001035.3(RYR2):c.8380G>C (p.Glu2794Gln)
|
rs2148846514
|
|
|
NM_001035.3(RYR2):c.8382G>A (p.Glu2794=)
|
rs1573391972
|
|
|
NM_001035.3(RYR2):c.8389A>G (p.Ser2797Gly)
|
|
|
|
NM_001035.3(RYR2):c.8390G>A (p.Ser2797Asn)
|
rs2148846582
|
|
|
NM_001035.3(RYR2):c.8396C>G (p.Ala2799Gly)
|
|
|
|
NM_001035.3(RYR2):c.8399T>C (p.Leu2800Pro)
|
|
|
|
NM_001035.3(RYR2):c.839T>C (p.Leu280Pro)
|
rs794728716
|
|
|
NM_001035.3(RYR2):c.840A>C (p.Leu280=)
|
rs1473940228
|
|
|
NM_001035.3(RYR2):c.8413C>T (p.Arg2805Cys)
|
|
|
|
NM_001035.3(RYR2):c.8416C>A (p.Arg2806Ser)
|
rs727504134
|
|
|
NM_001035.3(RYR2):c.8433C>T (p.Ser2811=)
|
rs1573392353
|
|
|
NM_001035.3(RYR2):c.8434C>T (p.Gln2812Ter)
|
|
|
|
NM_001035.3(RYR2):c.8436+15C>A
|
|
|
|
NM_001035.3(RYR2):c.8436+16G>A
|
|
|
|
NM_001035.3(RYR2):c.8436+17G>A
|
|
|
|
NM_001035.3(RYR2):c.8437-18T>C
|
rs2148872506
|
|
|
NM_001035.3(RYR2):c.8437-3T>A
|
rs924080705
|
|
|
NM_001035.3(RYR2):c.8437-4C>T
|
|
|
|
NM_001035.3(RYR2):c.8437-5T>C
|
|
|
|
NM_001035.3(RYR2):c.8437-7G>C
|
rs770428535
|
|
|
NM_001035.3(RYR2):c.8437-8T>C
|
|
|
|
NM_001035.3(RYR2):c.8439T>G (p.Val2813=)
|
|
|
|
NM_001035.3(RYR2):c.8443G>A (p.Val2815Met)
|
|
|
|
NM_001035.3(RYR2):c.8453C>T (p.Ala2818Val)
|
rs794728759
|
|
|
NM_001035.3(RYR2):c.8454C>T (p.Ala2818=)
|
rs916645207
|
|
|
NM_001035.3(RYR2):c.8463C>T (p.Tyr2821=)
|
|
|
|
NM_001035.3(RYR2):c.846T>A (p.Val282=)
|
|
|
|
NM_001035.3(RYR2):c.8471G>A (p.Arg2824Gln)
|
|
|
|
NM_001035.3(RYR2):c.8473G>T (p.Ala2825Ser)
|
rs1553274352
|
|
|
NM_001035.3(RYR2):c.8475C>A (p.Ala2825=)
|
rs2148872803
|
|
|
NM_001035.3(RYR2):c.848+12T>G
|
|
|
|
NM_001035.3(RYR2):c.848+15T>G
|
|
|
|
NM_001035.3(RYR2):c.848+18A>G
|
|
|
|
NM_001035.3(RYR2):c.848+1G>C
|
rs772984053
|
|
|
NM_001035.3(RYR2):c.8482A>G (p.Met2828Val)
|
rs948094250
|
|
|
NM_001035.3(RYR2):c.848C>G (p.Ala283Gly)
|
|
|
|
NM_001035.3(RYR2):c.849-5A>G
|
|
|
|
NM_001035.3(RYR2):c.84C>G (p.Ile28Met)
|
|
|
|
NM_001035.3(RYR2):c.8503A>G (p.Arg2835Gly)
|
rs2148872889
|
|
|
NM_001035.3(RYR2):c.8508C>A (p.Asp2836Glu)
|
rs757197730
|
|
|
NM_001035.3(RYR2):c.8508C>T (p.Asp2836=)
|
rs757197730
|
|
|
NM_001035.3(RYR2):c.8514+10A>T
|
rs2148872974
|
|
|
NM_001035.3(RYR2):c.8514+19T>A
|
|
|
|
NM_001035.3(RYR2):c.8514+1G>C
|
|
|
|
NM_001035.3(RYR2):c.8514+23_8514+24dup
|
|
|
|
NM_001035.3(RYR2):c.8514+30_8514+31insATTTAAAAATAGACTATTTAAAAATAGTCT
|
|
|
|
NM_001035.3(RYR2):c.8514+8C>G
|
|
|
|
NM_001035.3(RYR2):c.8515-18T>C
|
|
|
|
NM_001035.3(RYR2):c.8519T>C (p.Met2840Thr)
|
|
|
|
NM_001035.3(RYR2):c.8522C>A (p.Ala2841Glu)
|
|
|
|
NM_001035.3(RYR2):c.8538A>G (p.Glu2846=)
|
rs1187397798
|
|
|
NM_001035.3(RYR2):c.8541C>T (p.Asn2847=)
|
rs2148878456
|
|
|
NM_001035.3(RYR2):c.8543A>G (p.Tyr2848Cys)
|
rs2148878470
|
|
|
NM_001035.3(RYR2):c.854G>T (p.Ser285Ile)
|
rs1342435908
|
|
|
NM_001035.3(RYR2):c.8550T>C (p.Asn2850=)
|
|
|
|
NM_001035.3(RYR2):c.8554T>C (p.Trp2852Arg)
|
|
|
|
NM_001035.3(RYR2):c.8565A>G (p.Lys2855=)
|
|
|
|
NM_001035.3(RYR2):c.8573TGGAGT[1] (p.Leu2860_Glu2861del)
|
rs794728835
|
|
|
NM_001035.3(RYR2):c.8575G>C (p.Glu2859Gln)
|
|
|
|
NM_001035.3(RYR2):c.8590+18C>A
|
rs376966521
|
|
|
NM_001035.3(RYR2):c.8590+19G>A
|
|
|
|
NM_001035.3(RYR2):c.8590+19G>T
|
|
|
|
NM_001035.3(RYR2):c.8590+5T>C
|
rs2148878658
|
|
|
NM_001035.3(RYR2):c.8590+6A>G
|
rs1684469954
|
|
|
NM_001035.3(RYR2):c.8591-11C>T
|
|
|
|
NM_001035.3(RYR2):c.8591-13G>A
|
|
|
|
NM_001035.3(RYR2):c.8591-5C>G
|
|
|
|
NM_001035.3(RYR2):c.8591-9_8591-8del
|
|
|
|
NM_001035.3(RYR2):c.8591G>A (p.Gly2864Glu)
|
rs1186402933
|
|
|
NM_001035.3(RYR2):c.8595A>C (p.Gly2865=)
|
rs1573463108
|
|
|
NM_001035.3(RYR2):c.8595A>G (p.Gly2865=)
|
rs1573463108
|
|
|
NM_001035.3(RYR2):c.8596_8598del
|
rs794728836
|
|
|
NM_001035.3(RYR2):c.8599A>C (p.Asn2867His)
|
rs1685187563
|
|
|
NM_001035.3(RYR2):c.8617C>T (p.Pro2873Ser)
|
rs1031049689
|
|
|
NM_001035.3(RYR2):c.8618C>T (p.Pro2873Leu)
|
|
|
|
NM_001035.3(RYR2):c.8619C>G (p.Pro2873=)
|
|
|
|
NM_001035.3(RYR2):c.8641G>A (p.Glu2881Lys)
|
rs1685192501
|
|
|
NM_001035.3(RYR2):c.8643G>A (p.Glu2881=)
|
rs749903392
|
|
|
NM_001035.3(RYR2):c.8653G>T (p.Asp2885Tyr)
|
rs2148908834
|
|
|
NM_001035.3(RYR2):c.8659dup (p.Glu2887fs)
|
rs1685193967
|
|
|
NM_001035.3(RYR2):c.8661A>G (p.Glu2887=)
|
|
|
|
NM_001035.3(RYR2):c.8676C>T (p.Ile2892=)
|
|
|
|
NM_001035.3(RYR2):c.8677C>G (p.Leu2893Val)
|
rs1573463670
|
|
|
NM_001035.3(RYR2):c.8683T>C (p.Phe2895Leu)
|
|
|
|
NM_001035.3(RYR2):c.8709A>G (p.Val2903=)
|
|
|
|
NM_001035.3(RYR2):c.8713A>G (p.Arg2905Gly)
|
|
|
|
NM_001035.3(RYR2):c.8714+11A>G
|
rs1270886614
|
|
|
NM_001035.3(RYR2):c.8714+6A>G
|
rs1573463852
|
|
|
NM_001035.3(RYR2):c.8714+9A>G
|
rs541149328
|
|
|
NM_001035.3(RYR2):c.8715-10del
|
|
|
|
NM_001035.3(RYR2):c.8715-16A>G
|
|
|
|
NM_001035.3(RYR2):c.8715-16A>T
|
|
|
|
NM_001035.3(RYR2):c.8715-4C>G
|
rs1024126701
|
|
|
NM_001035.3(RYR2):c.8724G>A (p.Lys2908=)
|
|
|
|
NM_001035.3(RYR2):c.8727C>G (p.Asp2909Glu)
|
rs1685250255
|
|
|
NM_001035.3(RYR2):c.8741C>T (p.Thr2914Met)
|
|
|
|
NM_001035.3(RYR2):c.8750T>C (p.Ile2917Thr)
|
|
|
|
NM_001035.3(RYR2):c.8754G>A (p.Glu2918=)
|
rs2148911647
|
|
|
NM_001035.3(RYR2):c.8757A>G (p.Lys2919=)
|
rs1685252629
|
|
|
NM_001035.3(RYR2):c.8759G>A (p.Arg2920Gln)
|
rs756302327
|
|
|
NM_001035.3(RYR2):c.8759G>C (p.Arg2920Pro)
|
rs756302327
|
|
|
NM_001035.3(RYR2):c.8759G>T (p.Arg2920Leu)
|
rs756302327
|
|
|
NM_001035.3(RYR2):c.8767T>G (p.Tyr2923Asp)
|
|
|
|
NM_001035.3(RYR2):c.8768A>G (p.Tyr2923Cys)
|
rs926338576
|
|
|
NM_001035.3(RYR2):c.8775C>T (p.Phe2925=)
|
|
|
|
NM_001035.3(RYR2):c.8785C>T (p.Leu2929Phe)
|
rs2148911764
|
|
|
NM_001035.3(RYR2):c.8790T>A (p.Ile2930=)
|
|
|
|
NM_001035.3(RYR2):c.8792G>A (p.Arg2931His)
|
rs905226907
|
|
|
NM_001035.3(RYR2):c.8795A>T (p.Tyr2932Phe)
|
|
|
|
NM_001035.3(RYR2):c.8801A>G (p.Asp2934Gly)
|
|
|
|
NM_001035.3(RYR2):c.8810A>G (p.His2937Arg)
|
|
|
|
NM_001035.3(RYR2):c.8813A>G (p.Gln2938Arg)
|
rs1685257592
|
|
|
NM_001035.3(RYR2):c.8818A>G (p.Ile2940Val)
|
|
|
|
NM_001035.3(RYR2):c.8819T>C (p.Ile2940Thr)
|
|
|
|
NM_001035.3(RYR2):c.882A>G (p.Pro294=)
|
rs1553446366
|
|
|
NM_001035.3(RYR2):c.882A>T (p.Pro294=)
|
|
|
|
NM_001035.3(RYR2):c.8830+10A>G
|
|
|
|
NM_001035.3(RYR2):c.8830+11T>C
|
|
|
|
NM_001035.3(RYR2):c.8830+4G>A
|
|
|
|
NM_001035.3(RYR2):c.8831-7T>C
|
rs2148925899
|
|
|
NM_001035.3(RYR2):c.8838C>T (p.Gly2946=)
|
rs758912397
|
|
|
NM_001035.3(RYR2):c.8844A>G (p.Arg2948=)
|
|
|
|
NM_001035.3(RYR2):c.8846G>T (p.Gly2949Val)
|
rs1399706297
|
|
|
NM_001035.3(RYR2):c.8849A>G (p.Lys2950Arg)
|
|
|
|
NM_001035.3(RYR2):c.8862C>T (p.Phe2954=)
|
rs2148926083
|
|
|
NM_001035.3(RYR2):c.8872C>A (p.Gln2958Lys)
|
|
|
|
NM_001035.3(RYR2):c.8879T>A (p.Ile2960Asn)
|
rs759048462
|
|
|
NM_001035.3(RYR2):c.887G>A (p.Arg296Gln)
|
rs1705763277
|
|
|
NM_001035.3(RYR2):c.8880C>T (p.Ile2960=)
|
rs1573480855
|
|
|
NM_001035.3(RYR2):c.8886C>A (p.Phe2962Leu)
|
rs372703473
|
|
|
NM_001035.3(RYR2):c.888A>G (p.Arg296=)
|
rs1263386810
|
|
|
NM_001035.3(RYR2):c.8892A>T (p.Ala2964=)
|
rs1230616298
|
|
|
NM_001035.3(RYR2):c.8895+13A>G
|
|
|
|
NM_001035.3(RYR2):c.8895+15C>G
|
|
|
|
NM_001035.3(RYR2):c.8895+17_8895+20del
|
|
|
|
NM_001035.3(RYR2):c.8895+7T>C
|
rs2148926350
|
|
|
NM_001035.3(RYR2):c.8896-17C>A
|
|
|
|
NM_001035.3(RYR2):c.8896-17_8896-15del
|
|
|
|
NM_001035.3(RYR2):c.8896-18T>G
|
|
|
|
NM_001035.3(RYR2):c.8896-1G>A
|
rs2148936331
|
|
|
NM_001035.3(RYR2):c.8898C>T (p.Val2966=)
|
rs766514100
|
|
|
NM_001035.3(RYR2):c.8907T>C (p.Pro2969=)
|
|
|
|
NM_001035.3(RYR2):c.8911A>G (p.Ile2971Val)
|
rs1685776923
|
|
|
NM_001035.3(RYR2):c.8919G>A (p.Gln2973=)
|
rs1281776816
|
|
|
NM_001035.3(RYR2):c.8921A>G (p.Tyr2974Cys)
|
rs1685778254
|
|
|
NM_001035.3(RYR2):c.8926A>C (p.Lys2976Gln)
|
|
|
|
NM_001035.3(RYR2):c.8926A>G (p.Lys2976Glu)
|
|
|
|
NM_001035.3(RYR2):c.8927A>G (p.Lys2976Arg)
|
rs1558206523
|
|
|
NM_001035.3(RYR2):c.8935C>T (p.Arg2979Cys)
|
rs1685779180
|
|
|
NM_001035.3(RYR2):c.893G>T (p.Arg298Leu)
|
rs754259295
|
|
|
NM_001035.3(RYR2):c.8955A>G (p.Ala2985=)
|
|
|
|
NM_001035.3(RYR2):c.8960G>A (p.Ser2987Asn)
|
|
|
|
NM_001035.3(RYR2):c.8972G>A (p.Cys2991Tyr)
|
rs1685782698
|
|
|
NM_001035.3(RYR2):c.8991C>T (p.Ser2997=)
|
|
|
|
NM_001035.3(RYR2):c.8995A>G (p.Lys2999Glu)
|
|
|
|
NM_001035.3(RYR2):c.9003del (p.Glu3002fs)
|
|
|
|
NM_001035.3(RYR2):c.900C>T (p.Val300=)
|
rs2150058236
|
|
|
NM_001035.3(RYR2):c.9017+15A>G
|
|
|
|
NM_001035.3(RYR2):c.9017+16A>T
|
|
|
|
NM_001035.3(RYR2):c.9017+6C>T
|
rs1685786232
|
|
|
NM_001035.3(RYR2):c.9018-17_9018-7del
|
rs1686523446
|
|
|
NM_001035.3(RYR2):c.9028A>G (p.Lys3010Glu)
|
rs1686529459
|
|
|
NM_001035.3(RYR2):c.902C>G (p.Thr301Arg)
|
|
|
|
NM_001035.3(RYR2):c.9037G>A (p.Val3013Ile)
|
|
|
|
NM_001035.3(RYR2):c.9042T>A (p.Leu3014=)
|
|
|
|
NM_001035.3(RYR2):c.9043G>C (p.Val3015Leu)
|
rs1490052579
|
|
|
NM_001035.3(RYR2):c.9044T>G (p.Val3015Gly)
|
|
|
|
NM_001035.3(RYR2):c.9048G>A (p.Arg3016=)
|
|
|
|
NM_001035.3(RYR2):c.904A>G (p.Thr302Ala)
|
rs1178740695
|
|
|
NM_001035.3(RYR2):c.9067+11C>T
|
|
|
|
NM_001035.3(RYR2):c.9067+17A>C
|
|
|
|
NM_001035.3(RYR2):c.9067+18A>G
|
|
|
|
NM_001035.3(RYR2):c.9068-18A>C
|
rs1036402862
|
|
|
NM_001035.3(RYR2):c.9068-6C>G
|
|
|
|
NM_001035.3(RYR2):c.9068-9C>G
|
rs2149026201
|
|
|
NM_001035.3(RYR2):c.9068G>T (p.Gly3023Val)
|
rs1687729156
|
|
|
NM_001035.3(RYR2):c.9069C>T (p.Gly3023=)
|
|
|
|
NM_001035.3(RYR2):c.9072T>A (p.Asn3024Lys)
|
|
|
|
NM_001035.3(RYR2):c.9073G>A (p.Asp3025Asn)
|
rs1687730026
|
|
|
NM_001035.3(RYR2):c.9079A>G (p.Thr3027Ala)
|
|
|
|
NM_001035.3(RYR2):c.9095G>C (p.Cys3032Ser)
|
|
|
|
NM_001035.3(RYR2):c.9095_9098del (p.Cys3032fs)
|
|
|
|
NM_001035.3(RYR2):c.90A>G (p.Lys30=)
|
rs1366634657
|
|
|
NM_001035.3(RYR2):c.9105T>C (p.Ile3035=)
|
rs1687732005
|
|
|
NM_001035.3(RYR2):c.910A>G (p.Lys304Glu)
|
|
|
|
NM_001035.3(RYR2):c.9116C>G (p.Thr3039Ser)
|
|
|
|
NM_001035.3(RYR2):c.9125C>A (p.Ala3042Glu)
|
rs794728762
|
|
|
NM_001035.3(RYR2):c.9128+18dup
|
|
|
|
NM_001035.3(RYR2):c.9128+5del
|
rs1553289116
|
|
|
NM_001035.3(RYR2):c.9129-10T>A
|
rs876657993
|
|
|
NM_001035.3(RYR2):c.9129-7T>C
|
rs1466669135
|
|
|
NM_001035.3(RYR2):c.9129-7T>G
|
rs1466669135
|
|
|
NM_001035.3(RYR2):c.9129G>A (p.Arg3043=)
|
rs1687847434
|
|
|
NM_001035.3(RYR2):c.9129G>T (p.Arg3043Ser)
|
rs1687847434
|
|
|
NM_001035.3(RYR2):c.9134T>C (p.Val3045Ala)
|
rs1687848357
|
|
|
NM_001035.3(RYR2):c.9135G>A (p.Val3045=)
|
rs2149031134
|
|
|
NM_001035.3(RYR2):c.9148C>A (p.Leu3050Met)
|
|
|
|
NM_001035.3(RYR2):c.9159T>A (p.Val3053=)
|
|
|
|
NM_001035.3(RYR2):c.9165T>G (p.Ser3055Arg)
|
|
|
|
NM_001035.3(RYR2):c.916T>C (p.Leu306=)
|
rs1159486360
|
|
|
NM_001035.3(RYR2):c.9174A>G (p.Arg3058=)
|
rs1050820001
|
|
|
NM_001035.3(RYR2):c.917T>G (p.Leu306Trp)
|
rs2150058362
|
|
|
NM_001035.3(RYR2):c.9182T>G (p.Leu3061Arg)
|
rs1687852877
|
|
|
NM_001035.3(RYR2):c.9187A>G (p.Asn3063Asp)
|
rs889751102
|
|
|
NM_001035.3(RYR2):c.919A>G (p.Ser307Gly)
|
|
|
|
NM_001035.3(RYR2):c.9214A>G (p.Met3072Val)
|
|
|
|
NM_001035.3(RYR2):c.9215T>C (p.Met3072Thr)
|
rs2149031471
|
|
|
NM_001035.3(RYR2):c.9221A>C (p.Asn3074Thr)
|
|
|
|
NM_001035.3(RYR2):c.9222C>T (p.Asn3074=)
|
|
|
|
NM_001035.3(RYR2):c.9223C>A (p.Leu3075Ile)
|
rs1243072954
|
|
|
NM_001035.3(RYR2):c.9231G>A (p.Gln3077=)
|
rs2149031536
|
|
|
NM_001035.3(RYR2):c.9234C>A (p.Gly3078=)
|
|
|
|
NM_001035.3(RYR2):c.9237G>A (p.Gln3079=)
|
|
|
|
NM_001035.3(RYR2):c.9250C>A (p.Arg3084=)
|
rs1356957973
|
|
|
NM_001035.3(RYR2):c.9301C>G (p.Leu3101Val)
|
|
|
|
NM_001035.3(RYR2):c.9303dup (p.Leu3102fs)
|
|
|
|
NM_001035.3(RYR2):c.9308C>G (p.Pro3103Arg)
|
rs1208496897
|
|
|
NM_001035.3(RYR2):c.9308C>T (p.Pro3103Leu)
|
rs1208496897
|
|
|
NM_001035.3(RYR2):c.9312G>C (p.Met3104Ile)
|
rs1687864137
|
|
|
NM_001035.3(RYR2):c.9317_9318delinsTG (p.Ser3106Leu)
|
rs1687864745
|
|
|
NM_001035.3(RYR2):c.9318T>A (p.Ser3106=)
|
rs2797436
|
|
|
NM_001035.3(RYR2):c.9318T>G (p.Ser3106=)
|
rs2797436
|
|
|
NM_001035.3(RYR2):c.9321A>G (p.Ser3107=)
|
|
|
|
NM_001035.3(RYR2):c.9324A>G (p.Leu3108=)
|
rs1687865785
|
|
|
NM_001035.3(RYR2):c.9333T>C (p.His3111=)
|
rs965167497
|
|
|
NM_001035.3(RYR2):c.9336T>C (p.Ile3112=)
|
rs748626622
|
|
|
NM_001035.3(RYR2):c.9340C>T (p.Gln3114Ter)
|
|
|
|
NM_001035.3(RYR2):c.9346C>T (p.Gln3116Ter)
|
|
|
|
NM_001035.3(RYR2):c.9358G>C (p.Asp3120His)
|
rs794728764
|
|
|
NM_001035.3(RYR2):c.9366A>G (p.Ile3122Met)
|
rs1687868751
|
|
|
NM_001035.3(RYR2):c.9367+16T>A
|
rs775099398
|
|
|
NM_001035.3(RYR2):c.9367+20G>T
|
|
|
|
NM_001035.3(RYR2):c.9367+4T>C
|
rs1687869394
|
|
|
NM_001035.3(RYR2):c.9367+6T>C
|
|
|
|
NM_001035.3(RYR2):c.9367T>C (p.Leu3123=)
|
rs2149032196
|
|
|
NM_001035.3(RYR2):c.9368-11T>C
|
|
|
|
NM_001035.3(RYR2):c.9368-12C>G
|
|
|
|
NM_001035.3(RYR2):c.9368-12_9368-11del
|
|
|
|
NM_001035.3(RYR2):c.9368-13T>C
|
|
|
|
NM_001035.3(RYR2):c.9368-16T>A
|
|
|
|
NM_001035.3(RYR2):c.9368-4T>A
|
rs755202469
|
|
|
NM_001035.3(RYR2):c.9375T>C (p.Asp3125=)
|
|
|
|
NM_001035.3(RYR2):c.9384G>A (p.Val3128=)
|
rs1225100895
|
|
|
NM_001035.3(RYR2):c.9387T>C (p.Ser3129=)
|
rs1688006622
|
|
|
NM_001035.3(RYR2):c.9392A>C (p.Tyr3131Ser)
|
|
|
|
NM_001035.3(RYR2):c.9392A>G (p.Tyr3131Cys)
|
rs1342384519
|
|
|
NM_001035.3(RYR2):c.9393T>C (p.Tyr3131=)
|
|
|
|
NM_001035.3(RYR2):c.9402G>C (p.Leu3134=)
|
rs1688007851
|
|
|
NM_001035.3(RYR2):c.9408C>T (p.Ser3136=)
|
rs1688008727
|
|
|
NM_001035.3(RYR2):c.9411A>G (p.Leu3137=)
|
|
|
|
NM_001035.3(RYR2):c.9412T>C (p.Tyr3138His)
|
rs794728765
|
|
|
NM_001035.3(RYR2):c.9417T>G (p.Ala3139=)
|
rs765394638
|
|
|
NM_001035.3(RYR2):c.942_944del (p.Leu316del)
|
rs749937926
|
|
|
NM_001035.3(RYR2):c.9432G>C (p.Lys3144Asn)
|
|
|
|
NM_001035.3(RYR2):c.9434G>T (p.Ser3145Ile)
|
rs1688011604
|
|
|
NM_001035.3(RYR2):c.9449+15_9449+21del
|
|
|
|
NM_001035.3(RYR2):c.9449+6A>G
|
rs2149038687
|
|
|
NM_001035.3(RYR2):c.9450-15A>G
|
|
|
|
NM_001035.3(RYR2):c.9450-19A>G
|
|
|
|
NM_001035.3(RYR2):c.9450-4A>C
|
rs1006436726
|
|
|
NM_001035.3(RYR2):c.9455G>A (p.Arg3152His)
|
|
|
|
NM_001035.3(RYR2):c.9457T>C (p.Ser3153Pro)
|
|
|
|
NM_001035.3(RYR2):c.9458C>T (p.Ser3153Phe)
|
|
|
|
NM_001035.3(RYR2):c.9465A>G (p.Leu3155=)
|
rs1688273184
|
|
|
NM_001035.3(RYR2):c.9477A>G (p.Leu3159=)
|
rs967916943
|
|
|
NM_001035.3(RYR2):c.9478G>C (p.Ala3160Pro)
|
rs1444464397
|
|
|
NM_001035.3(RYR2):c.9494C>T (p.Ala3165Val)
|
|
|
|
NM_001035.3(RYR2):c.9495T>G (p.Ala3165=)
|
|
|
|
NM_001035.3(RYR2):c.949A>G (p.Met317Val)
|
rs754558924
|
|
|
NM_001035.3(RYR2):c.94C>A (p.Gln32Lys)
|
rs1553373926
|
|
|
NM_001035.3(RYR2):c.9501T>A (p.Pro3167=)
|
|
|
|
NM_001035.3(RYR2):c.9502G>A (p.Val3168Ile)
|
rs1473666484
|
|
|
NM_001035.3(RYR2):c.9506C>A (p.Ala3169Glu)
|
|
|
|
NM_001035.3(RYR2):c.9508T>C (p.Phe3170Leu)
|
|
|
|
NM_001035.3(RYR2):c.9517A>C (p.Thr3173Pro)
|
|
|
|
NM_001035.3(RYR2):c.9521A>G (p.His3174Arg)
|
|
|
|
NM_001035.3(RYR2):c.9522T>A (p.His3174Gln)
|
|
|
|
NM_001035.3(RYR2):c.9552C>T (p.Tyr3184=)
|
rs1321006730
|
|
|
NM_001035.3(RYR2):c.9559A>T (p.Lys3187Ter)
|
rs939109036
|
|
|
NM_001035.3(RYR2):c.9568C>T (p.Arg3190Ter)
|
rs1484075889
|
|
|
NM_001035.3(RYR2):c.957A>G (p.Lys319=)
|
|
|
|
NM_001035.3(RYR2):c.9580+18G>T
|
|
|
|
NM_001035.3(RYR2):c.9580+19C>T
|
|
|
|
NM_001035.3(RYR2):c.9580+6A>C
|
rs2149050610
|
|
|
NM_001035.3(RYR2):c.9580+6A>G
|
|
|
|
NM_001035.3(RYR2):c.9580+8A>G
|
|
|
|
NM_001035.3(RYR2):c.9581-15T>C
|
|
|
|
NM_001035.3(RYR2):c.9581-16A>G
|
|
|
|
NM_001035.3(RYR2):c.9581-4C>T
|
|
|
|
NM_001035.3(RYR2):c.9581-545C>A
|
rs12040571
|
|
|
NM_001035.3(RYR2):c.9581-8T>C
|
rs1558258551
|
|
|
NM_001035.3(RYR2):c.9581-9C>T
|
rs2149057929
|
|
|
NM_001035.3(RYR2):c.9586del (p.Ser3196fs)
|
|
|
|
NM_001035.3(RYR2):c.9590T>C (p.Leu3197Ser)
|
|
|
|
NM_001035.3(RYR2):c.9594A>G (p.Pro3198=)
|
rs1448241605
|
|
|
NM_001035.3(RYR2):c.9599A>C (p.Asn3200Thr)
|
rs1688433173
|
|
|
NM_001035.3(RYR2):c.9600T>C (p.Asn3200=)
|
rs772853405
|
|
|
NM_001035.3(RYR2):c.9601G>A (p.Val3201Met)
|
rs762549821
|
|
|
NM_001035.3(RYR2):c.960G>A (p.Glu320=)
|
rs1572253938
|
|
|
NM_001035.3(RYR2):c.9614G>T (p.Cys3205Phe)
|
rs2149058149
|
|
|
NM_001035.3(RYR2):c.9618A>C (p.Pro3206=)
|
rs1314966595
|
|
|
NM_001035.3(RYR2):c.9618A>G (p.Pro3206=)
|
rs1314966595
|
|
|
NM_001035.3(RYR2):c.9625C>T (p.Pro3209Ser)
|
rs767375014
|
|
|
NM_001035.3(RYR2):c.9642_9643delinsT (p.Met3215fs)
|
rs1558258790
|
|
|
NM_001035.3(RYR2):c.9645G>A (p.Met3215Ile)
|
rs1688437148
|
|
|
NM_001035.3(RYR2):c.9645G>T (p.Met3215Ile)
|
|
|
|
NM_001035.3(RYR2):c.9654C>T (p.Ile3218=)
|
rs1472161324
|
|
|
NM_001035.3(RYR2):c.9657G>A (p.Val3219=)
|
|
|
|
NM_001035.3(RYR2):c.9676A>G (p.Ile3226Val)
|
|
|
|
NM_001035.3(RYR2):c.9680G>C (p.Arg3227Pro)
|
|
|
|
NM_001035.3(RYR2):c.9683A>G (p.Tyr3228Cys)
|
|
|
|
NM_001035.3(RYR2):c.9684C>T (p.Tyr3228=)
|
|
|
|
NM_001035.3(RYR2):c.9688C>A (p.Gln3230Lys)
|
rs886037908
|
|
|
NM_001035.3(RYR2):c.9693G>A (p.Met3231Ile)
|
rs748858246
|
|
|
NM_001035.3(RYR2):c.9693G>T (p.Met3231Ile)
|
rs748858246
|
|
|
NM_001035.3(RYR2):c.9694C>T (p.Pro3232Ser)
|
rs1688442582
|
|
|
NM_001035.3(RYR2):c.9698A>G (p.His3233Arg)
|
rs1386204884
|
|
|
NM_001035.3(RYR2):c.9699T>C (p.His3233=)
|
|
|
|
NM_001035.3(RYR2):c.969T>G (p.Asp323Glu)
|
|
|
|
NM_001035.3(RYR2):c.9701T>C (p.Val3234Ala)
|
|
|
|
NM_001035.3(RYR2):c.9703A>T (p.Met3235Leu)
|
rs773957909
|
|
|
NM_001035.3(RYR2):c.9711C>T (p.Val3237=)
|
|
|
|
NM_001035.3(RYR2):c.9722T>C (p.Met3241Thr)
|
|
|
|
NM_001035.3(RYR2):c.9724C>T (p.Leu3242Phe)
|
rs1060500147
|
|
|
NM_001035.3(RYR2):c.972A>G (p.Val324=)
|
|
|
|
NM_001035.3(RYR2):c.9732C>T (p.Ser3244=)
|
|
|
|
NM_001035.3(RYR2):c.9756T>C (p.His3252=)
|
rs2149059008
|
|
|
NM_001035.3(RYR2):c.9759A>C (p.Gly3253=)
|
rs1553293285
|
|
|
NM_001035.3(RYR2):c.9762T>C (p.Pro3254=)
|
rs764355636
|
|
|
NM_001035.3(RYR2):c.9765G>C (p.Glu3255Asp)
|
rs1558259322
|
|
|
NM_001035.3(RYR2):c.9770A>G (p.Asn3257Ser)
|
rs1167753426
|
|
|
NM_001035.3(RYR2):c.9784G>A (p.Glu3262Lys)
|
|
|
|
NM_001035.3(RYR2):c.9787A>T (p.Met3263Leu)
|
rs1014875855
|
|
|
NM_001035.3(RYR2):c.9799G>A (p.Ala3267Thr)
|
|
|
|
NM_001035.3(RYR2):c.9800C>T (p.Ala3267Val)
|
rs2149059247
|
|
|
NM_001035.3(RYR2):c.9807C>T (p.Asn3269=)
|
rs1553293326
|
|
|
NM_001035.3(RYR2):c.9808T>A (p.Ser3270Thr)
|
|
|
|
NM_001035.3(RYR2):c.9816C>T (p.His3272=)
|
rs2149059346
|
|
|
NM_001035.3(RYR2):c.9824C>T (p.Thr3275Ile)
|
rs756918556
|
|
|
NM_001035.3(RYR2):c.9826C>T (p.Leu3276Phe)
|
|
|
|
NM_001035.3(RYR2):c.9830T>C (p.Leu3277Pro)
|
|
|
|
NM_001035.3(RYR2):c.9844A>G (p.Lys3282Glu)
|
|
|
|
NM_001035.3(RYR2):c.9848T>C (p.Ile3283Thr)
|
|
|
|
NM_001035.3(RYR2):c.9850A>G (p.Ile3284Val)
|
rs1688456675
|
|
|
NM_001035.3(RYR2):c.9852A>T (p.Ile3284=)
|
|
|
|
NM_001035.3(RYR2):c.9877G>A (p.Gly3293Arg)
|
rs886046275
|
|
|
NM_001035.3(RYR2):c.9884G>A (p.Trp3295Ter)
|
rs2149059730
|
|
|
NM_001035.3(RYR2):c.9886A>T (p.Met3296Leu)
|
rs1688459724
|
|
|
NM_001035.3(RYR2):c.9887T>C (p.Met3296Thr)
|
rs876661390
|
|
|
NM_001035.3(RYR2):c.9897A>G (p.Leu3299=)
|
|
|
|
NM_001035.3(RYR2):c.9901+19C>G
|
rs1226976865
|
|
|
NM_001035.3(RYR2):c.9901+9T>A
|
rs1553293394
|
|
|
NM_001035.3(RYR2):c.9902-17T>C
|
|
|
|
NM_001035.3(RYR2):c.9918A>G (p.Ile3306Met)
|
|
|
|
NM_001035.3(RYR2):c.9922A>G (p.Asn3308Asp)
|
rs1688594106
|
|
|
NM_001035.3(RYR2):c.9926A>G (p.Lys3309Arg)
|
rs2149066547
|
|
|
NM_001035.3(RYR2):c.9943T>C (p.Leu3315=)
|
rs2149066640
|
|
|
NM_001035.3(RYR2):c.9948A>C (p.Lys3316Asn)
|
|
|
|
NM_001035.3(RYR2):c.9951T>C (p.Thr3317=)
|
|
|
|
NM_001035.3(RYR2):c.9954T>C (p.His3318=)
|
rs371965471
|
|
|
NM_001035.3(RYR2):c.9958T>G (p.Leu3320Val)
|
rs986776770
|
|
|
NM_001035.3(RYR2):c.9967A>G (p.Met3323Val)
|
rs773288086
|
|
|
NM_001035.3(RYR2):c.9974A>G (p.Lys3325Arg)
|
rs1427986585
|
|
|
NM_001035.3(RYR2):c.9978C>G (p.Leu3326=)
|
|
|
|
NM_001035.3(RYR2):c.9982A>G (p.Lys3328Glu)
|
rs763136948
|
|
|
NM_001035.3(RYR2):c.9988G>A (p.Ala3330Thr)
|
rs1688598517
|
|
|
NM_001035.3(RYR2):c.998C>T (p.Ser333Phe)
|
rs397516552
|
|
|
NM_001035.3(RYR2):c.9992C>A (p.Ala3331Asp)
|
|
|
|
NM_001035.3(RYR2):c.9996G>C (p.Thr3332=)
|
|
|
|
NM_001035.3(RYR2):c.9999G>A (p.Val3333=)
|
|
|
|
NM_001103.4(ACTN2):c.2485G>T (p.Glu829Ter)
|
rs770335717
|
|
|
NM_001134363.3(RBM20):c.2338G>C (p.Gly780Arg)
|
rs750988872
|
|
|
NM_001148.6(ANK2):c.11611G>A (p.Gly3871Arg)
|
rs786205729
|
|
|
NM_001232.4(CASQ2):c.*332A>T
|
rs758724908
|
|
|
NM_001232.4(CASQ2):c.-206_-205dup
|
rs72554067
|
|
|
NM_001232.4(CASQ2):c.-212_-211insATGTGT
|
rs886045162
|
|
|
NM_001232.4(CASQ2):c.-218delinsCGTGCGTGC
|
rs886045163
|
|
|
NM_001232.4(CASQ2):c.-219_-218insCGTGTG
|
rs886045164
|
|
|
NM_001232.4(CASQ2):c.1006G>C (p.Val336Leu)
|
|
|
|
NM_001232.4(CASQ2):c.1011A>G (p.Thr337=)
|
|
|
|
NM_001232.4(CASQ2):c.1014+10C>T
|
|
|
|
NM_001232.4(CASQ2):c.1014+11C>T
|
|
|
|
NM_001232.4(CASQ2):c.1014+13T>C
|
|
|
|
NM_001232.4(CASQ2):c.1014+14G>A
|
|
|
|
NM_001232.4(CASQ2):c.1014+16G>A
|
|
|
|
NM_001232.4(CASQ2):c.1014+1G>A
|
rs1654250819
|
|
|
NM_001232.4(CASQ2):c.1014+20G>A
|
|
|
|
NM_001232.4(CASQ2):c.1014+20G>T
|
rs369540921
|
|
|
NM_001232.4(CASQ2):c.1015-16T>C
|
|
|
|
NM_001232.4(CASQ2):c.1015-1G>A
|
rs1654202571
|
|
|
NM_001232.4(CASQ2):c.1015-20C>A
|
|
|
|
NM_001232.4(CASQ2):c.1015-6C>T
|
|
|
|
NM_001232.4(CASQ2):c.1017dup (p.Asp340Ter)
|
rs1553191909
|
|
|
NM_001232.4(CASQ2):c.101T>G (p.Val34Gly)
|
rs1280686043
|
|
|
NM_001232.4(CASQ2):c.1021A>G (p.Ser341Gly)
|
|
|
|
NM_001232.4(CASQ2):c.1028G>A (p.Trp343Ter)
|
|
|
|
NM_001232.4(CASQ2):c.1029G>C (p.Trp343Cys)
|
rs2101052355
|
|
|
NM_001232.4(CASQ2):c.1030A>T (p.Met344Leu)
|
rs1295335060
|
|
|
NM_001232.4(CASQ2):c.1041A>T (p.Pro347=)
|
|
|
|
NM_001232.4(CASQ2):c.1059A>C (p.Pro353=)
|
|
|
|
NM_001232.4(CASQ2):c.1059A>T (p.Pro353=)
|
rs754889548
|
|
|
NM_001232.4(CASQ2):c.1072C>T (p.Leu358=)
|
|
|
|
NM_001232.4(CASQ2):c.1082G>A (p.Trp361Ter)
|
|
|
|
NM_001232.4(CASQ2):c.1082G>C (p.Trp361Ser)
|
rs786205792
|
|
|
NM_001232.4(CASQ2):c.1119AGATGATGATGA[1] (p.373EDDD[1])
|
rs764957093
|
|
|
NM_001232.4(CASQ2):c.1122TGA[2] (p.Asp376del)
|
rs202241842
|
|
|
NM_001232.4(CASQ2):c.1131A>G (p.Glu377=)
|
|
|
|
NM_001232.4(CASQ2):c.1131_1133del (p.Glu377del)
|
rs765914619
|
|
|
NM_001232.4(CASQ2):c.1132GAT[4] (p.Asp382_Asp383del)
|
|
|
|
NM_001232.4(CASQ2):c.1132GAT[5] (p.Asp383del)
|
rs72554069
|
|
|
NM_001232.4(CASQ2):c.1132GAT[7] (p.Asp383dup)
|
rs72554069
|
|
|
NM_001232.4(CASQ2):c.1134T>A (p.Asp378Glu)
|
rs150486780
|
|
|
NM_001232.4(CASQ2):c.1137T>G (p.Asp379Glu)
|
rs776130201
|
|
|
NM_001232.4(CASQ2):c.1140T>C (p.Asp380=)
|
|
|
|
NM_001232.4(CASQ2):c.1146T>C (p.Asp382=)
|
|
|
|
NM_001232.4(CASQ2):c.1149T>A (p.Asp383Glu)
|
rs1206628721
|
|
|
NM_001232.4(CASQ2):c.114C>A (p.Ser38=)
|
rs571353035
|
|
|
NM_001232.4(CASQ2):c.115G>A (p.Glu39Lys)
|
rs756636650
|
|
|
NM_001232.4(CASQ2):c.115G>C (p.Glu39Gln)
|
|
|
|
NM_001232.4(CASQ2):c.115G>T (p.Glu39Ter)
|
rs756636650
|
|
|
NM_001232.4(CASQ2):c.1167T>C (p.Asp389=)
|
rs1557783672
|
|
|
NM_001232.4(CASQ2):c.1168A>G (p.Asn390Asp)
|
rs1570791816
|
|
|
NM_001232.4(CASQ2):c.1173T>C (p.Asp391=)
|
|
|
|
NM_001232.4(CASQ2):c.1176C>T (p.Asp392=)
|
|
|
|
NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del)
|
rs397516641
|
|
|
NM_001232.4(CASQ2):c.1187A>T (p.Asp396Val)
|
|
|
|
NM_001232.4(CASQ2):c.1188T>A (p.Asp396Glu)
|
rs751885773
|
|
|
NM_001232.4(CASQ2):c.1188TGA[4] (p.Asp398dup)
|
rs72554070
|
|
|
NM_001232.4(CASQ2):c.118A>G (p.Lys40Glu)
|
rs786205797
|
|
|
NM_001232.4(CASQ2):c.1191T>C (p.Asp397=)
|
|
|
|
NM_001232.4(CASQ2):c.1192G>A (p.Asp398Asn)
|
rs1654192683
|
|
|
NM_001232.4(CASQ2):c.1197A>G (p.Glu399=)
|
rs1251308717
|
|
|
NM_001232.4(CASQ2):c.12T>C (p.Thr4=)
|
|
|
|
NM_001232.4(CASQ2):c.132G>A (p.Gln44=)
|
|
|
|
NM_001232.4(CASQ2):c.146A>G (p.Tyr49Cys)
|
|
|
|
NM_001232.4(CASQ2):c.150C>T (p.Asp50=)
|
rs1570867364
|
|
|
NM_001232.4(CASQ2):c.158G>A (p.Cys53Tyr)
|
rs151168851
|
|
|
NM_001232.4(CASQ2):c.15C>T (p.His5=)
|
|
|
|
NM_001232.4(CASQ2):c.165C>T (p.Tyr55=)
|
|
|
|
NM_001232.4(CASQ2):c.174G>A (p.Glu58=)
|
|
|
|
NM_001232.4(CASQ2):c.175C>A (p.Pro59Thr)
|
rs866858282
|
|
|
NM_001232.4(CASQ2):c.177G>T (p.Pro59=)
|
rs371260149
|
|
|
NM_001232.4(CASQ2):c.180G>C (p.Val60=)
|
|
|
|
NM_001232.4(CASQ2):c.199C>T (p.Gln67Ter)
|
|
|
|
NM_001232.4(CASQ2):c.205C>T (p.Gln69Ter)
|
|
|
|
NM_001232.4(CASQ2):c.207G>A (p.Gln69=)
|
|
|
|
NM_001232.4(CASQ2):c.210C>T (p.Phe70=)
|
rs774492523
|
|
|
NM_001232.4(CASQ2):c.213del (p.Gln71fs)
|
rs786205799
|
|
|
NM_001232.4(CASQ2):c.226_227inv (p.Val76Thr)
|
|
|
|
NM_001232.4(CASQ2):c.22A>G (p.Ile8Val)
|
rs1649206559
|
|
|
NM_001232.4(CASQ2):c.231T>C (p.Leu77=)
|
rs2101130383
|
|
|
NM_001232.4(CASQ2):c.234+13A>T
|
|
|
|
NM_001232.4(CASQ2):c.234+17C>T
|
|
|
|
NM_001232.4(CASQ2):c.234+18A>G
|
|
|
|
NM_001232.4(CASQ2):c.234+8A>C
|
|
|
|
NM_001232.4(CASQ2):c.234+9C>T
|
|
|
|
NM_001232.4(CASQ2):c.235-10del
|
|
|
|
NM_001232.4(CASQ2):c.235-15C>T
|
|
|
|
NM_001232.4(CASQ2):c.235-17del
|
|
|
|
NM_001232.4(CASQ2):c.235-2A>G
|
rs1060502164
|
|
|
NM_001232.4(CASQ2):c.235-3C>T
|
rs1186837357
|
|
|
NM_001232.4(CASQ2):c.235-8T>C
|
rs2101101082
|
|
|
NM_001232.4(CASQ2):c.23T>C (p.Ile8Thr)
|
rs1553197935
|
|
|
NM_001232.4(CASQ2):c.240G>A (p.Val80=)
|
rs2101101070
|
|
|
NM_001232.4(CASQ2):c.240G>T (p.Val80=)
|
|
|
|
NM_001232.4(CASQ2):c.242C>T (p.Ala81Val)
|
rs1648331024
|
|
|
NM_001232.4(CASQ2):c.244C>T (p.Gln82Ter)
|
|
|
|
NM_001232.4(CASQ2):c.249C>T (p.Val83=)
|
|
|
|
NM_001232.4(CASQ2):c.250C>T (p.Leu84Phe)
|
rs1274422352
|
|
|
NM_001232.4(CASQ2):c.265A>G (p.Ile89Val)
|
|
|
|
NM_001232.4(CASQ2):c.268G>C (p.Gly90Arg)
|
|
|
|
NM_001232.4(CASQ2):c.271T>C (p.Phe91Leu)
|
rs1181984320
|
|
|
NM_001232.4(CASQ2):c.278T>C (p.Met93Thr)
|
rs1328122344
|
|
|
NM_001232.4(CASQ2):c.286G>A (p.Ala96Thr)
|
rs2101100994
|
|
|
NM_001232.4(CASQ2):c.292A>G (p.Lys98Glu)
|
|
|
|
NM_001232.4(CASQ2):c.294A>G (p.Lys98=)
|
|
|
|
NM_001232.4(CASQ2):c.299C>T (p.Ala100Val)
|
|
|
|
NM_001232.4(CASQ2):c.2T>C (p.Met1Thr)
|
rs1553197939
|
|
|
NM_001232.4(CASQ2):c.303G>A (p.Lys101=)
|
|
|
|
NM_001232.4(CASQ2):c.305T>A (p.Leu102His)
|
|
|
|
NM_001232.4(CASQ2):c.306T>G (p.Leu102=)
|
|
|
|
NM_001232.4(CASQ2):c.319+10A>T
|
|
|
|
NM_001232.4(CASQ2):c.319+11T>C
|
|
|
|
NM_001232.4(CASQ2):c.319+1G>C
|
rs1459829853
|
|
|
NM_001232.4(CASQ2):c.319+20T>A
|
rs751551798
|
|
|
NM_001232.4(CASQ2):c.319+2T>G
|
|
|
|
NM_001232.4(CASQ2):c.31A>T (p.Ile11Phe)
|
rs2101130741
|
|
|
NM_001232.4(CASQ2):c.31del (p.Ile11fs)
|
|
|
|
NM_001232.4(CASQ2):c.320-11G>T
|
|
|
|
NM_001232.4(CASQ2):c.320-15C>G
|
|
|
|
NM_001232.4(CASQ2):c.320-3C>T
|
|
|
|
NM_001232.4(CASQ2):c.320-7C>T
|
|
|
|
NM_001232.4(CASQ2):c.324TGA[1] (p.Asp109del)
|
rs1358515759
|
|
|
NM_001232.4(CASQ2):c.326A>T (p.Asp109Val)
|
rs946911897
|
|
|
NM_001232.4(CASQ2):c.337A>C (p.Ser113Arg)
|
|
|
|
NM_001232.4(CASQ2):c.339_354del (p.Ser113fs)
|
rs786205106
|
|
|
NM_001232.4(CASQ2):c.33T>C (p.Ile11=)
|
|
|
|
NM_001232.4(CASQ2):c.342G>A (p.Leu114=)
|
rs1399153364
|
|
|
NM_001232.4(CASQ2):c.348T>C (p.Ile116=)
|
|
|
|
NM_001232.4(CASQ2):c.34T>A (p.Tyr12Asn)
|
rs752330104
|
|
|
NM_001232.4(CASQ2):c.354G>A (p.Lys118=)
|
rs1648148662
|
|
|
NM_001232.4(CASQ2):c.357T>C (p.Gly119=)
|
|
|
|
NM_001232.4(CASQ2):c.366A>G (p.Thr122=)
|
|
|
|
NM_001232.4(CASQ2):c.381C>T (p.Gly127=)
|
rs775663612
|
|
|
NM_001232.4(CASQ2):c.389C>T (p.Ala130Val)
|
|
|
|
NM_001232.4(CASQ2):c.3G>A (p.Met1Ile)
|
|
|
|
NM_001232.4(CASQ2):c.406G>A (p.Glu136Lys)
|
|
|
|
NM_001232.4(CASQ2):c.414_415del (p.Leu139fs)
|
|
|
|
NM_001232.4(CASQ2):c.420+14C>T
|
|
|
|
NM_001232.4(CASQ2):c.420+16C>T
|
|
|
|
NM_001232.4(CASQ2):c.420+17A>G
|
|
|
|
NM_001232.4(CASQ2):c.420+18G>C
|
|
|
|
NM_001232.4(CASQ2):c.420+1G>A
|
|
|
|
NM_001232.4(CASQ2):c.420+20G>A
|
|
|
|
NM_001232.4(CASQ2):c.420+8_420+9insATAAATGC
|
|
|
|
NM_001232.4(CASQ2):c.421-15C>G
|
rs199939582
|
|
|
NM_001232.4(CASQ2):c.421-15C>T
|
rs199939582
|
|
|
NM_001232.4(CASQ2):c.421C>T (p.Leu141=)
|
rs1570831673
|
|
|
NM_001232.4(CASQ2):c.422T>G (p.Leu141Arg)
|
rs1648036832
|
|
|
NM_001232.4(CASQ2):c.423A>G (p.Leu141=)
|
rs770571012
|
|
|
NM_001232.4(CASQ2):c.426T>C (p.Ile142=)
|
|
|
|
NM_001232.4(CASQ2):c.432C>T (p.Asp144=)
|
|
|
|
NM_001232.4(CASQ2):c.435A>G (p.Pro145=)
|
rs1570831633
|
|
|
NM_001232.4(CASQ2):c.438G>A (p.Val146=)
|
|
|
|
NM_001232.4(CASQ2):c.444C>T (p.Ile148=)
|
|
|
|
NM_001232.4(CASQ2):c.446T>G (p.Ile149Ser)
|
rs1060502165
|
|
|
NM_001232.4(CASQ2):c.466C>T (p.Gln156Ter)
|
rs1648034747
|
|
|
NM_001232.4(CASQ2):c.467_478del (p.Gln156_Glu159del)
|
rs1648034165
|
|
|
NM_001232.4(CASQ2):c.475G>T (p.Glu159Ter)
|
rs375598471
|
|
|
NM_001232.4(CASQ2):c.481A>C (p.Ile161Leu)
|
rs146333579
|
|
|
NM_001232.4(CASQ2):c.487G>A (p.Asp163Asn)
|
|
|
|
NM_001232.4(CASQ2):c.48T>C (p.Ser16=)
|
rs2101130724
|
|
|
NM_001232.4(CASQ2):c.498A>T (p.Lys166Asn)
|
rs2101091967
|
|
|
NM_001232.4(CASQ2):c.519T>C (p.Ser173=)
|
|
|
|
NM_001232.4(CASQ2):c.522G>A (p.Glu174=)
|
rs2101091922
|
|
|
NM_001232.4(CASQ2):c.532+13C>T
|
rs1442512343
|
|
|
NM_001232.4(CASQ2):c.532+14C>A
|
|
|
|
NM_001232.4(CASQ2):c.532+17C>T
|
|
|
|
NM_001232.4(CASQ2):c.532+7T>G
|
|
|
|
NM_001232.4(CASQ2):c.532+8G>T
|
|
|
|
NM_001232.4(CASQ2):c.533-13T>C
|
|
|
|
NM_001232.4(CASQ2):c.533-15del
|
|
|
|
NM_001232.4(CASQ2):c.533-19T>C
|
|
|
|
NM_001232.4(CASQ2):c.533-5C>T
|
|
|
|
NM_001232.4(CASQ2):c.537C>A (p.Tyr179Ter)
|
|
|
|
NM_001232.4(CASQ2):c.538A>C (p.Lys180Gln)
|
|
|
|
NM_001232.4(CASQ2):c.541G>C (p.Ala181Pro)
|
rs745879915
|
|
|
NM_001232.4(CASQ2):c.543T>G (p.Ala181=)
|
rs912740566
|
|
|
NM_001232.4(CASQ2):c.546del (p.Phe182fs)
|
rs763955301
|
|
|
NM_001232.4(CASQ2):c.564C>T (p.His188=)
|
|
|
|
NM_001232.4(CASQ2):c.579C>G (p.Ile193Met)
|
|
|
|
NM_001232.4(CASQ2):c.581A>C (p.Lys194Thr)
|
rs755558916
|
|
|
NM_001232.4(CASQ2):c.603A>G (p.Lys201=)
|
rs1557794917
|
|
|
NM_001232.4(CASQ2):c.606+16A>G
|
|
|
|
NM_001232.4(CASQ2):c.606+18C>T
|
|
|
|
NM_001232.4(CASQ2):c.606+1G>C
|
rs786205791
|
|
|
NM_001232.4(CASQ2):c.606+7A>T
|
rs1060504495
|
|
|
NM_001232.4(CASQ2):c.606G>A (p.Gly202=)
|
rs1647836874
|
|
|
NM_001232.4(CASQ2):c.607-11_607-2del
|
|
|
|
NM_001232.4(CASQ2):c.607-16T>A
|
|
|
|
NM_001232.4(CASQ2):c.607-17A>C
|
|
|
|
NM_001232.4(CASQ2):c.607-18T>G
|
|
|
|
NM_001232.4(CASQ2):c.607-5T>C
|
|
|
|
NM_001232.4(CASQ2):c.607-6T>C
|
|
|
|
NM_001232.4(CASQ2):c.607-7G>T
|
|
|
|
NM_001232.4(CASQ2):c.607-8G>T
|
|
|
|
NM_001232.4(CASQ2):c.607-9T>C
|
|
|
|
NM_001232.4(CASQ2):c.625T>C (p.Leu209=)
|
rs2101079232
|
|
|
NM_001232.4(CASQ2):c.62del (p.Glu21fs)
|
rs397507555
|
|
|
NM_001232.4(CASQ2):c.630G>A (p.Lys210=)
|
|
|
|
NM_001232.4(CASQ2):c.636T>C (p.Asn212=)
|
|
|
|
NM_001232.4(CASQ2):c.646T>G (p.Phe216Val)
|
|
|
|
NM_001232.4(CASQ2):c.64G>A (p.Gly22Arg)
|
|
|
|
NM_001232.4(CASQ2):c.650A>T (p.Tyr217Phe)
|
rs373227317
|
|
|
NM_001232.4(CASQ2):c.657A>G (p.Pro219=)
|
|
|
|
NM_001232.4(CASQ2):c.669G>A (p.Glu223=)
|
|
|
|
NM_001232.4(CASQ2):c.66G>A (p.Gly22=)
|
|
|
|
NM_001232.4(CASQ2):c.675T>A (p.Ile225=)
|
|
|
|
NM_001232.4(CASQ2):c.683C>G (p.Pro228Arg)
|
rs2101079136
|
|
|
NM_001232.4(CASQ2):c.684C>T (p.Pro228=)
|
|
|
|
NM_001232.4(CASQ2):c.687C>G (p.Asn229Lys)
|
rs2101079130
|
|
|
NM_001232.4(CASQ2):c.691C>T (p.Pro231Ser)
|
rs749796276
|
|
|
NM_001232.4(CASQ2):c.693T>C (p.Pro231=)
|
|
|
|
NM_001232.4(CASQ2):c.715G>T (p.Glu239Ter)
|
rs1647617368
|
|
|
NM_001232.4(CASQ2):c.730_731inv (p.His244Cys)
|
|
|
|
NM_001232.4(CASQ2):c.737+12G>A
|
|
|
|
NM_001232.4(CASQ2):c.737+13G>A
|
|
|
|
NM_001232.4(CASQ2):c.737+13G>T
|
|
|
|
NM_001232.4(CASQ2):c.737+14C>T
|
|
|
|
NM_001232.4(CASQ2):c.737+15A>G
|
|
|
|
NM_001232.4(CASQ2):c.737+16T>C
|
|
|
|
NM_001232.4(CASQ2):c.737+17G>A
|
rs1196679914
|
|
|
NM_001232.4(CASQ2):c.737+17G>T
|
|
|
|
NM_001232.4(CASQ2):c.737+1G>A
|
|
|
|
NM_001232.4(CASQ2):c.737+8A>T
|
|
|
|
NM_001232.4(CASQ2):c.737+9G>T
|
|
|
|
NM_001232.4(CASQ2):c.738-11_738-5del
|
rs56889721
|
|
|
NM_001232.4(CASQ2):c.738-15_738-5del
|
|
|
|
NM_001232.4(CASQ2):c.738-16T>G
|
|
|
|
NM_001232.4(CASQ2):c.738-16_738-5del
|
rs56889721
|
|
|
NM_001232.4(CASQ2):c.738-17_738-5del
|
rs56889721
|
|
|
NM_001232.4(CASQ2):c.738-19_738-5del
|
|
|
|
NM_001232.4(CASQ2):c.738-20T>C
|
|
|
|
NM_001232.4(CASQ2):c.738-27dup
|
rs56889721
|
|
|
NM_001232.4(CASQ2):c.738-4C>A
|
|
|
|
NM_001232.4(CASQ2):c.738-6_738-4dup
|
|
|
|
NM_001232.4(CASQ2):c.738-6_738-5del
|
rs56889721
|
|
|
NM_001232.4(CASQ2):c.738-7T>C
|
|
|
|
NM_001232.4(CASQ2):c.738-8T>C
|
|
|
|
NM_001232.4(CASQ2):c.740C>G (p.Pro247Arg)
|
rs768261470
|
|
|
NM_001232.4(CASQ2):c.741C>T (p.Pro247=)
|
|
|
|
NM_001232.4(CASQ2):c.749G>T (p.Arg250Leu)
|
rs187306418
|
|
|
NM_001232.4(CASQ2):c.753C>G (p.Arg251=)
|
|
|
|
NM_001232.4(CASQ2):c.753C>T (p.Arg251=)
|
|
|
|
NM_001232.4(CASQ2):c.754del (p.Leu252fs)
|
|
|
|
NM_001232.4(CASQ2):c.758G>C (p.Arg253Pro)
|
rs199571249
|
|
|
NM_001232.4(CASQ2):c.758G>T (p.Arg253Leu)
|
rs199571249
|
|
|
NM_001232.4(CASQ2):c.762A>C (p.Pro254=)
|
|
|
|
NM_001232.4(CASQ2):c.781del (p.Trp261fs)
|
|
|
|
NM_001232.4(CASQ2):c.783+13C>G
|
|
|
|
NM_001232.4(CASQ2):c.783+17del
|
|
|
|
NM_001232.4(CASQ2):c.783+19C>G
|
|
|
|
NM_001232.4(CASQ2):c.783+3A>G
|
rs876657751
|
|
|
NM_001232.4(CASQ2):c.784-11T>C
|
|
|
|
NM_001232.4(CASQ2):c.784-14_784-12dup
|
|
|
|
NM_001232.4(CASQ2):c.784-15A>G
|
|
|
|
NM_001232.4(CASQ2):c.784-17T>A
|
rs2997741
|
|
|
NM_001232.4(CASQ2):c.784-17T>G
|
rs2997741
|
|
|
NM_001232.4(CASQ2):c.784-18del
|
|
|
|
NM_001232.4(CASQ2):c.784-1G>A
|
|
|
|
NM_001232.4(CASQ2):c.784-5T>C
|
rs2101068877
|
|
|
NM_001232.4(CASQ2):c.784-7C>T
|
rs2101068879
|
|
|
NM_001232.4(CASQ2):c.784-9C>G
|
rs2101068882
|
|
|
NM_001232.4(CASQ2):c.808A>T (p.Ile270Phe)
|
|
|
|
NM_001232.4(CASQ2):c.809T>C (p.Ile270Thr)
|
rs762381137
|
|
|
NM_001232.4(CASQ2):c.825G>A (p.Glu275=)
|
|
|
|
NM_001232.4(CASQ2):c.828G>A (p.Lys276=)
|
|
|
|
NM_001232.4(CASQ2):c.835C>A (p.Pro279Thr)
|
rs769435706
|
|
|
NM_001232.4(CASQ2):c.837A>G (p.Pro279=)
|
rs1647217312
|
|
|
NM_001232.4(CASQ2):c.837A>T (p.Pro279=)
|
rs1647217312
|
|
|
NM_001232.4(CASQ2):c.838+10C>A
|
|
|
|
NM_001232.4(CASQ2):c.838+16C>A
|
|
|
|
NM_001232.4(CASQ2):c.838+18T>A
|
|
|
|
NM_001232.4(CASQ2):c.838+9C>A
|
|
|
|
NM_001232.4(CASQ2):c.839-10C>A
|
rs1285000814
|
|
|
NM_001232.4(CASQ2):c.839-19C>G
|
|
|
|
NM_001232.4(CASQ2):c.839-8T>C
|
|
|
|
NM_001232.4(CASQ2):c.843C>G (p.Gly281=)
|
|
|
|
NM_001232.4(CASQ2):c.846C>A (p.Tyr282Ter)
|
|
|
|
NM_001232.4(CASQ2):c.856G>T (p.Glu286Ter)
|
rs1471576368
|
|
|
NM_001232.4(CASQ2):c.860T>G (p.Ile287Ser)
|
rs368165922
|
|
|
NM_001232.4(CASQ2):c.861C>T (p.Ile287=)
|
rs143718767
|
|
|
NM_001232.4(CASQ2):c.865A>G (p.Lys289Glu)
|
|
|
|
NM_001232.4(CASQ2):c.877C>A (p.Arg293=)
|
|
|
|
NM_001232.4(CASQ2):c.878G>C (p.Arg293Pro)
|
rs377691566
|
|
|
NM_001232.4(CASQ2):c.888T>C (p.Thr296=)
|
rs769250369
|
|
|
NM_001232.4(CASQ2):c.891C>T (p.Asp297=)
|
|
|
|
NM_001232.4(CASQ2):c.894C>A (p.Asn298Lys)
|
rs923161859
|
|
|
NM_001232.4(CASQ2):c.894C>T (p.Asn298=)
|
|
|
|
NM_001232.4(CASQ2):c.896C>G (p.Pro299Arg)
|
rs974622106
|
|
|
NM_001232.4(CASQ2):c.898_900dup (p.Asp300dup)
|
rs1557785041
|
|
|
NM_001232.4(CASQ2):c.900T>C (p.Asp300=)
|
|
|
|
NM_001232.4(CASQ2):c.901C>T (p.Leu301=)
|
|
|
|
NM_001232.4(CASQ2):c.905G>C (p.Ser302Thr)
|
rs979113189
|
|
|
NM_001232.4(CASQ2):c.909C>T (p.Ile303=)
|
|
|
|
NM_001232.4(CASQ2):c.918C>T (p.Ile306=)
|
|
|
|
NM_001232.4(CASQ2):c.921C>T (p.Asp307=)
|
rs773111521
|
|
|
NM_001232.4(CASQ2):c.923C>A (p.Pro308Gln)
|
rs139228801
|
|
|
NM_001232.4(CASQ2):c.925del (p.Asp309fs)
|
|
|
|
NM_001232.4(CASQ2):c.926A>T (p.Asp309Val)
|
rs72703607
|
|
|
NM_001232.4(CASQ2):c.933T>A (p.Phe311Leu)
|
rs769960615
|
|
|
NM_001232.4(CASQ2):c.937C>G (p.Leu313Val)
|
rs1654321088
|
|
|
NM_001232.4(CASQ2):c.939+13A>G
|
|
|
|
NM_001232.4(CASQ2):c.939+19C>A
|
rs370092811
|
|
|
NM_001232.4(CASQ2):c.939+19C>T
|
|
|
|
NM_001232.4(CASQ2):c.939+1G>A
|
|
|
|
NM_001232.4(CASQ2):c.939+20G>A
|
rs1431164488
|
|
|
NM_001232.4(CASQ2):c.939+20G>C
|
|
|
|
NM_001232.4(CASQ2):c.939+3G>A
|
|
|
|
NM_001232.4(CASQ2):c.939+5G>C
|
rs746128346
|
|
|
NM_001232.4(CASQ2):c.939+8G>T
|
|
|
|
NM_001232.4(CASQ2):c.939+9C>T
|
rs2101055914
|
|
|
NM_001232.4(CASQ2):c.940-10G>A
|
|
|
|
NM_001232.4(CASQ2):c.940-11del
|
|
|
|
NM_001232.4(CASQ2):c.940-12T>C
|
|
|
|
NM_001232.4(CASQ2):c.940-12T>G
|
|
|
|
NM_001232.4(CASQ2):c.940-18A>C
|
|
|
|
NM_001232.4(CASQ2):c.940-19T>C
|
|
|
|
NM_001232.4(CASQ2):c.940-1G>T
|
rs876657635
|
|
|
NM_001232.4(CASQ2):c.940-7G>T
|
|
|
|
NM_001232.4(CASQ2):c.942C>G (p.Leu314=)
|
|
|
|
NM_001232.4(CASQ2):c.942C>T (p.Leu314=)
|
|
|
|
NM_001232.4(CASQ2):c.959A>C (p.Lys320Thr)
|
rs1654255083
|
|
|
NM_001232.4(CASQ2):c.960G>A (p.Lys320=)
|
|
|
|
NM_001232.4(CASQ2):c.966C>T (p.Phe322=)
|
|
|
|
NM_001232.4(CASQ2):c.972T>C (p.Ile324=)
|
|
|
|
NM_001232.4(CASQ2):c.974_983del (p.Asp325fs)
|
|
|
|
NM_001232.4(CASQ2):c.97C>A (p.Arg33=)
|
|
|
|
NM_001232.4(CASQ2):c.97C>T (p.Arg33Ter)
|
rs397507556
|
|
|
NM_001232.4(CASQ2):c.981C>A (p.Phe327Leu)
|
rs2101053786
|
|
|
NM_001232.4(CASQ2):c.987A>G (p.Pro329=)
|
|
|
|
NM_001232.4(CASQ2):c.987A>T (p.Pro329=)
|
|
|
|
NM_001232.4(CASQ2):c.988C>G (p.Gln330Glu)
|
|
|
|
NM_001232.4(CASQ2):c.988C>T (p.Gln330Ter)
|
rs767023791
|
|
|
NM_001232.4(CASQ2):c.98G>T (p.Arg33Leu)
|
rs749547712
|
|
|
NM_001232.4(CASQ2):c.996G>A (p.Gly332=)
|
|
|
|
NM_001232.4(CASQ2):c.999G>A (p.Val333=)
|
|
|
|
NM_001267550.2(TTN):c.34129GTTCTACCTGAAGAAGAGGAA[1] (p.11363VLPEEEE[3])
|
rs587780487
|
|
|
NM_001267550.2(TTN):c.752A>G (p.His251Arg)
|
rs587782983
|
|
|
NM_001267550.2(TTN):c.88825C>T (p.Arg29609Ter)
|
rs766450773
|
|
|
NM_001318895.3(FHL2):c.715T>G (p.Phe239Val)
|
rs869025433
|
|
|
NM_001407276.1(TMEM43):c.883-2_883del
|
|
|
|
NM_001792.5(CDH2):c.1133A>G (p.Asn378Ser)
|
|
|
|
NM_001792.5(CDH2):c.1219G>A (p.Asp407Asn)
|
rs568089577
|
|
|
NM_001792.5(CDH2):c.1344+1G>A
|
rs2143975765
|
|
|
NM_001792.5(CDH2):c.1604C>G (p.Thr535Ser)
|
|
|
|
NM_001792.5(CDH2):c.686A>C (p.Gln229Pro)
|
rs965753331
|
|
|
NM_001927.4(DES):c.1216C>T (p.Arg406Trp)
|
rs121913003
|
|
|
NM_001927.4(DES):c.1315G>A (p.Glu439Lys)
|
rs1114167347
|
|
|
NM_001927.4(DES):c.365A>G (p.Tyr122Cys)
|
rs1400593451
|
|
|
NM_001927.4(DES):c.380G>C (p.Arg127Pro)
|
rs397516694
|
|
|
NM_001927.4(DES):c.985C>T (p.Gln329Ter)
|
rs759320891
|
|
|
NM_001943.4(DSG2):c.-135A>T
|
rs886053709
|
|
|
NM_001943.4(DSG2):c.-153dup
|
rs886053708
|
|
|
NM_001943.4(DSG2):c.1015del
|
rs794728094
|
|
|
NM_001943.5(DSG2):c.*1012C>T
|
rs886053733
|
|
|
NM_001943.5(DSG2):c.*1264G>C
|
rs115099821
|
|
|
NM_001943.5(DSG2):c.*1450G>A
|
rs886053734
|
|
|
NM_001943.5(DSG2):c.*1473G>T
|
rs886053735
|
|
|
NM_001943.5(DSG2):c.*159G>A
|
rs886053719
|
|
|
NM_001943.5(DSG2):c.*1652T>G
|
rs886053736
|
|
|
NM_001943.5(DSG2):c.*1714_*1715dup
|
rs10645928
|
|
|
NM_001943.5(DSG2):c.*1786G>T
|
rs886053737
|
|
|
NM_001943.5(DSG2):c.*1982A>C
|
rs1302003146
|
|
|
NM_001943.5(DSG2):c.*25del
|
rs886053717
|
|
|
NM_001943.5(DSG2):c.*351C>A
|
rs886053720
|
|
|
NM_001943.5(DSG2):c.*419G>T
|
rs552933757
|
|
|
NM_001943.5(DSG2):c.*601TG[7]
|
rs36022761
|
|
|
NM_001943.5(DSG2):c.*755G>A
|
rs886053725
|
|
|
NM_001943.5(DSG2):c.*788G>C
|
rs886053726
|
|
|
NM_001943.5(DSG2):c.*874C>T
|
rs886053728
|
|
|
NM_001943.5(DSG2):c.*932_*933insA
|
rs886053730
|
|
|
NM_001943.5(DSG2):c.*944del
|
rs368604939
|
|
|
NM_001943.5(DSG2):c.*944dup
|
rs368604939
|
|
|
NM_001943.5(DSG2):c.*960dup
|
rs200149790
|
|
|
NM_001943.5(DSG2):c.*96C>G
|
rs886053718
|
|
|
NM_001943.5(DSG2):c.-44C>A
|
rs886053710
|
|
|
NM_001943.5(DSG2):c.-4T>G
|
rs886053711
|
|
|
NM_001943.5(DSG2):c.1006C>T (p.Leu336Phe)
|
rs1060502864
|
|
|
NM_001943.5(DSG2):c.1013A>G (p.Lys338Arg)
|
|
|
|
NM_001943.5(DSG2):c.1014+11A>G
|
|
|
|
NM_001943.5(DSG2):c.1014+12G>C
|
|
|
|
NM_001943.5(DSG2):c.1014+15T>G
|
|
|
|
NM_001943.5(DSG2):c.1014+18A>G
|
|
|
|
NM_001943.5(DSG2):c.1015-19C>T
|
|
|
|
NM_001943.5(DSG2):c.1015-2A>C
|
rs2144332473
|
|
|
NM_001943.5(DSG2):c.1015G>A (p.Glu339Lys)
|
|
|
|
NM_001943.5(DSG2):c.1017del (p.Glu339_Val340insTer)
|
rs745457570
|
|
|
NM_001943.5(DSG2):c.1018G>T (p.Val340Leu)
|
rs1369312425
|
|
|
NM_001943.5(DSG2):c.1026T>C (p.Tyr342=)
|
|
|
|
NM_001943.5(DSG2):c.1027G>T (p.Glu343Ter)
|
rs1555627108
|
|
|
NM_001943.5(DSG2):c.1031A>T (p.Glu344Val)
|
rs886053713
|
|
|
NM_001943.5(DSG2):c.1034T>A (p.Met345Lys)
|
rs2144332528
|
|
|
NM_001943.5(DSG2):c.1035GAA[1] (p.Lys346del)
|
rs727502987
|
|
|
NM_001943.5(DSG2):c.1038G>A (p.Lys346=)
|
rs1555627111
|
|
|
NM_001943.5(DSG2):c.1047C>T (p.Asp349=)
|
rs1598816361
|
|
|
NM_001943.5(DSG2):c.1053_1056dup (p.Ile353fs)
|
rs2144332585
|
|
|
NM_001943.5(DSG2):c.1062C>T (p.Val354=)
|
rs369233023
|
|
|
NM_001943.5(DSG2):c.1063G>T (p.Ala355Ser)
|
rs201046640
|
|
|
NM_001943.5(DSG2):c.1066A>C (p.Asn356His)
|
|
|
|
NM_001943.5(DSG2):c.1088C>T (p.Ser363Leu)
|
rs751527714
|
|
|
NM_001943.5(DSG2):c.1090A>G (p.Ile364Val)
|
rs780014639
|
|
|
NM_001943.5(DSG2):c.1098T>G (p.Ser366Arg)
|
|
|
|
NM_001943.5(DSG2):c.10A>C (p.Ser4Arg)
|
|
|
|
NM_001943.5(DSG2):c.10A>G (p.Ser4Gly)
|
rs1415117974
|
|
|
NM_001943.5(DSG2):c.1100A>G (p.Lys367Arg)
|
rs1057518504
|
|
|
NM_001943.5(DSG2):c.1101A>G (p.Lys367=)
|
|
|
|
NM_001943.5(DSG2):c.111G>C (p.Leu37=)
|
rs1568104775
|
|
|
NM_001943.5(DSG2):c.111G>T (p.Leu37=)
|
|
|
|
NM_001943.5(DSG2):c.1128G>T (p.Lys376Asn)
|
rs760119108
|
|
|
NM_001943.5(DSG2):c.1129G>A (p.Val377Ile)
|
|
|
|
NM_001943.5(DSG2):c.1130T>A (p.Val377Asp)
|
rs794728085
|
|
|
NM_001943.5(DSG2):c.1132A>C (p.Lys378Gln)
|
|
|
|
NM_001943.5(DSG2):c.1132A>G (p.Lys378Glu)
|
|
|
|
NM_001943.5(DSG2):c.1146G>A (p.Val382=)
|
|
|
|
NM_001943.5(DSG2):c.1154G>A (p.Gly385Asp)
|
rs727504748
|
|
|
NM_001943.5(DSG2):c.1164T>C (p.Phe388=)
|
rs1232189892
|
|
|
NM_001943.5(DSG2):c.1166A>T (p.Lys389Ile)
|
|
|
|
NM_001943.5(DSG2):c.1173C>A (p.Ser391Arg)
|
rs763242004
|
|
|
NM_001943.5(DSG2):c.1188T>C (p.Tyr396=)
|
rs751783277
|
|
|
NM_001943.5(DSG2):c.11_12insGCGAGGGTGCGATGGCACGGAG (p.Ser4fs)
|
|
|
|
NM_001943.5(DSG2):c.1205A>G (p.Asp402Gly)
|
|
|
|
NM_001943.5(DSG2):c.1206T>C (p.Asp402=)
|
rs2144333016
|
|
|
NM_001943.5(DSG2):c.1211C>G (p.Ser404Ter)
|
|
|
|
NM_001943.5(DSG2):c.1219G>A (p.Gly407Ser)
|
|
|
|
NM_001943.5(DSG2):c.1220G>C (p.Gly407Ala)
|
|
|
|
NM_001943.5(DSG2):c.1229T>C (p.Ile410Thr)
|
|
|
|
NM_001943.5(DSG2):c.1242A>G (p.Gln414=)
|
|
|
|
NM_001943.5(DSG2):c.1243G>A (p.Ala415Thr)
|
rs746645151
|
|
|
NM_001943.5(DSG2):c.1245T>C (p.Ala415=)
|
rs2144333101
|
|
|
NM_001943.5(DSG2):c.1248T>C (p.Phe416=)
|
rs2144333112
|
|
|
NM_001943.5(DSG2):c.1252G>A (p.Glu418Lys)
|
|
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|
NM_001943.5(DSG2):c.1255G>A (p.Asp419Asn)
|
|
|
|
NM_001943.5(DSG2):c.1256A>G (p.Asp419Gly)
|
rs760135423
|
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|
NM_001943.5(DSG2):c.1256A>T (p.Asp419Val)
|
rs760135423
|
|
|
NM_001943.5(DSG2):c.125C>T (p.Pro42Leu)
|
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NM_001943.5(DSG2):c.1263A>C (p.Gly421=)
|
|
|
|
NM_001943.5(DSG2):c.1266A>G (p.Leu422=)
|
rs770359142
|
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|
NM_001943.5(DSG2):c.1274A>C (p.His425Pro)
|
rs746180213
|
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|
NM_001943.5(DSG2):c.1274A>G (p.His425Arg)
|
rs746180213
|
|
|
NM_001943.5(DSG2):c.1277C>T (p.Ala426Val)
|
rs1555627137
|
|
|
NM_001943.5(DSG2):c.127C>T (p.His43Tyr)
|
|
|
|
NM_001943.5(DSG2):c.1280+15C>T
|
|
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|
NM_001943.5(DSG2):c.1280+15del
|
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|
NM_001943.5(DSG2):c.1280+18G>A
|
|
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|
NM_001943.5(DSG2):c.1280+4AG[3]
|
rs876657791
|
|
|
NM_001943.5(DSG2):c.1280+9G>A
|
|
|
|
NM_001943.5(DSG2):c.1281-16G>A
|
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NM_001943.5(DSG2):c.1281-5G>T
|
rs1280409009
|
|
|
NM_001943.5(DSG2):c.1281-7A>G
|
rs1598818943
|
|
|
NM_001943.5(DSG2):c.1297G>A (p.Asp433Asn)
|
rs938919152
|
|
|
NM_001943.5(DSG2):c.1297G>T (p.Asp433Tyr)
|
rs938919152
|
|
|
NM_001943.5(DSG2):c.12C>T (p.Ser4=)
|
|
|
|
NM_001943.5(DSG2):c.130T>G (p.Leu44Val)
|
|
|
|
NM_001943.5(DSG2):c.1316C>G (p.Ser439Cys)
|
rs2073222283
|
|
|
NM_001943.5(DSG2):c.1317T>C (p.Ser439=)
|
rs727505064
|
|
|
NM_001943.5(DSG2):c.1319_1320del (p.Val440fs)
|
rs775256998
|
|
|
NM_001943.5(DSG2):c.1331C>T (p.Thr444Ile)
|
rs2073222443
|
|
|
NM_001943.5(DSG2):c.1332_1354del (p.Ser445_Glu446insTer)
|
rs2073222422
|
|
|
NM_001943.5(DSG2):c.1342A>G (p.Lys448Glu)
|
rs2073222488
|
|
|
NM_001943.5(DSG2):c.1349C>T (p.Ala450Val)
|
|
|
|
NM_001943.5(DSG2):c.1355T>G (p.Leu452Arg)
|
rs763810935
|
|
|
NM_001943.5(DSG2):c.1359T>G (p.Pro453=)
|
|
|
|
NM_001943.5(DSG2):c.1361_1387del (p.Asp454_Asn462del)
|
rs2073222763
|
|
|
NM_001943.5(DSG2):c.1368A>G (p.Glu456=)
|
|
|
|
NM_001943.5(DSG2):c.136C>T (p.Arg46Trp)
|
rs752522753
|
|
|
NM_001943.5(DSG2):c.1373G>T (p.Arg458Ile)
|
rs2144339865
|
|
|
NM_001943.5(DSG2):c.1374_1388del (p.Arg458_Gly463delinsSer)
|
rs2073222954
|
|
|
NM_001943.5(DSG2):c.1377T>C (p.Tyr459=)
|
|
|
|
NM_001943.5(DSG2):c.1379T>A (p.Val460Asp)
|
|
|
|
NM_001943.5(DSG2):c.1385del (p.Asn462fs)
|
|
|
|
NM_001943.5(DSG2):c.138G>T (p.Arg46=)
|
rs2073117347
|
|
|
NM_001943.5(DSG2):c.1397C>G (p.Thr466Ser)
|
rs769137357
|
|
|
NM_001943.5(DSG2):c.1399G>A (p.Val467Ile)
|
rs727504533
|
|
|
NM_001943.5(DSG2):c.13C>G (p.Pro5Ala)
|
|
|
|
NM_001943.5(DSG2):c.1409T>C (p.Val470Ala)
|
|
|
|
NM_001943.5(DSG2):c.1411G>A (p.Ala471Thr)
|
|
|
|
NM_001943.5(DSG2):c.1423+1G>T
|
rs1257877047
|
|
|
NM_001943.5(DSG2):c.1423+5del
|
|
|
|
NM_001943.5(DSG2):c.1423G>C (p.Asp475His)
|
|
|
|
NM_001943.5(DSG2):c.1423G>T (p.Asp475Tyr)
|
|
|
|
NM_001943.5(DSG2):c.1424-10T>C
|
|
|
|
NM_001943.5(DSG2):c.1429C>A (p.Pro477Thr)
|
|
|
|
NM_001943.5(DSG2):c.1433dup (p.Thr480fs)
|
|
|
|
NM_001943.5(DSG2):c.1435A>G (p.Lys479Glu)
|
rs779432999
|
|
|
NM_001943.5(DSG2):c.1447G>A (p.Gly483Ser)
|
rs886053714
|
|
|
NM_001943.5(DSG2):c.1448G>A (p.Gly483Asp)
|
rs2144341363
|
|
|
NM_001943.5(DSG2):c.1452A>G (p.Thr484=)
|
rs2144341392
|
|
|
NM_001943.5(DSG2):c.1455C>T (p.Val485=)
|
rs2073229259
|
|
|
NM_001943.5(DSG2):c.145C>A (p.Arg49Ser)
|
rs762526848
|
|
|
NM_001943.5(DSG2):c.1460T>C (p.Ile487Thr)
|
rs776525113
|
|
|
NM_001943.5(DSG2):c.1463A>G (p.Asn488Ser)
|
rs794728078
|
|
|
NM_001943.5(DSG2):c.146G>A (p.Arg49His)
|
rs121913006
|
|
|
NM_001943.5(DSG2):c.1477A>G (p.Asn493Asp)
|
rs2144341490
|
|
|
NM_001943.5(DSG2):c.1477_1479del (p.Asn493del)
|
rs2073229597
|
|
|
NM_001943.5(DSG2):c.1482C>G (p.Asp494Glu)
|
|
|
|
NM_001943.5(DSG2):c.1487G>A (p.Cys496Tyr)
|
rs1346150383
|
|
|
NM_001943.5(DSG2):c.1487dup (p.Cys496fs)
|
rs730880347
|
|
|
NM_001943.5(DSG2):c.1489C>G (p.Pro497Ala)
|
|
|
|
NM_001943.5(DSG2):c.148G>C (p.Ala50Pro)
|
|
|
|
NM_001943.5(DSG2):c.148G>T (p.Ala50Ser)
|
rs1267795586
|
|
|
NM_001943.5(DSG2):c.1499T>G (p.Ile500Arg)
|
rs769741655
|
|
|
NM_001943.5(DSG2):c.14C>T (p.Pro5Leu)
|
rs530517936
|
|
|
NM_001943.5(DSG2):c.1501G>C (p.Glu501Gln)
|
rs1567930737
|
|
|
NM_001943.5(DSG2):c.1515A>C (p.Thr505=)
|
|
|
|
NM_001943.5(DSG2):c.151T>C (p.Trp51Arg)
|
rs1064794367
|
|
|
NM_001943.5(DSG2):c.1524C>A (p.His508Gln)
|
rs560004953
|
|
|
NM_001943.5(DSG2):c.1527T>A (p.Asp509Glu)
|
|
|
|
NM_001943.5(DSG2):c.152G>T (p.Trp51Leu)
|
rs397516702
|
|
|
NM_001943.5(DSG2):c.1532A>G (p.Glu511Gly)
|
rs1416039056
|
|
|
NM_001943.5(DSG2):c.1533G>C (p.Glu511Asp)
|
|
|
|
NM_001943.5(DSG2):c.1539G>C (p.Val513=)
|
rs2144341713
|
|
|
NM_001943.5(DSG2):c.1540A>G (p.Asn514Asp)
|
rs1598819735
|
|
|
NM_001943.5(DSG2):c.1541A>C (p.Asn514Thr)
|
|
|
|
NM_001943.5(DSG2):c.1541A>T (p.Asn514Ile)
|
rs986617814
|
|
|
NM_001943.5(DSG2):c.1543G>T (p.Val515Phe)
|
|
|
|
NM_001943.5(DSG2):c.1549G>A (p.Ala517Thr)
|
|
|
|
NM_001943.5(DSG2):c.1549G>T (p.Ala517Ser)
|
rs1299327345
|
|
|
NM_001943.5(DSG2):c.154A>T (p.Ile52Phe)
|
|
|
|
NM_001943.5(DSG2):c.1554G>A (p.Glu518=)
|
rs2144341754
|
|
|
NM_001943.5(DSG2):c.1555G>C (p.Asp519His)
|
rs778119035
|
|
|
NM_001943.5(DSG2):c.1561G>A (p.Asp521Asn)
|
rs2144341791
|
|
|
NM_001943.5(DSG2):c.1569C>G (p.His523Gln)
|
|
|
|
NM_001943.5(DSG2):c.156C>T (p.Ile52=)
|
|
|
|
NM_001943.5(DSG2):c.1577G>A (p.Ser526Asn)
|
rs771083574
|
|
|
NM_001943.5(DSG2):c.1583C>G (p.Pro528Arg)
|
rs1023084089
|
|
|
NM_001943.5(DSG2):c.158C>G (p.Thr53Ser)
|
rs1456845187
|
|
|
NM_001943.5(DSG2):c.1601T>C (p.Ile534Thr)
|
rs2144341885
|
|
|
NM_001943.5(DSG2):c.1605C>A (p.Asp535Glu)
|
rs368718022
|
|
|
NM_001943.5(DSG2):c.1610C>A (p.Pro537Gln)
|
rs1598819817
|
|
|
NM_001943.5(DSG2):c.1613C>T (p.Pro538Leu)
|
|
|
|
NM_001943.5(DSG2):c.1617C>T (p.Gly539=)
|
|
|
|
NM_001943.5(DSG2):c.1618A>G (p.Met540Val)
|
|
|
|
NM_001943.5(DSG2):c.1623A>G (p.Ala541=)
|
|
|
|
NM_001943.5(DSG2):c.162C>T (p.Ala54=)
|
rs2144314166
|
|
|
NM_001943.5(DSG2):c.1630T>G (p.Trp544Gly)
|
|
|
|
NM_001943.5(DSG2):c.1639G>A (p.Ala547Thr)
|
|
|
|
NM_001943.5(DSG2):c.1642C>G (p.Arg548Gly)
|
|
|
|
NM_001943.5(DSG2):c.1643G>T (p.Arg548Leu)
|
rs551034751
|
|
|
NM_001943.5(DSG2):c.1648G>A (p.Glu550Lys)
|
rs972736246
|
|
|
NM_001943.5(DSG2):c.1649A>G (p.Glu550Gly)
|
rs2144342065
|
|
|
NM_001943.5(DSG2):c.1651A>G (p.Ser551Gly)
|
|
|
|
NM_001943.5(DSG2):c.1652-19C>A
|
rs2073247158
|
|
|
NM_001943.5(DSG2):c.1652-2dup
|
|
|
|
NM_001943.5(DSG2):c.1652-9A>C
|
rs2144346411
|
|
|
NM_001943.5(DSG2):c.1658G>T (p.Ser553Ile)
|
rs1567931587
|
|
|
NM_001943.5(DSG2):c.1670A>G (p.Gln557Arg)
|
|
|
|
NM_001943.5(DSG2):c.1672C>T (p.Gln558Ter)
|
rs1375012922
|
|
|
NM_001943.5(DSG2):c.1674A>C (p.Gln558His)
|
rs1019401099
|
|
|
NM_001943.5(DSG2):c.1676G>A (p.Ser559Asn)
|
|
|
|
NM_001943.5(DSG2):c.1676G>C (p.Ser559Thr)
|
rs1254841751
|
|
|
NM_001943.5(DSG2):c.1680G>T (p.Glu560Asp)
|
rs2073247614
|
|
|
NM_001943.5(DSG2):c.1686G>A (p.Lys562=)
|
|
|
|
NM_001943.5(DSG2):c.1688T>C (p.Leu563Pro)
|
|
|
|
NM_001943.5(DSG2):c.1689del (p.Arg565fs)
|
|
|
|
NM_001943.5(DSG2):c.1696A>C (p.Ser566Arg)
|
rs2144346505
|
|
|
NM_001943.5(DSG2):c.1698T>A (p.Ser566Arg)
|
|
|
|
NM_001943.5(DSG2):c.169del (p.Ala57fs)
|
|
|
|
NM_001943.5(DSG2):c.1705C>T (p.Gln569Ter)
|
rs2144346522
|
|
|
NM_001943.5(DSG2):c.1707G>C (p.Gln569His)
|
rs370097438
|
|
|
NM_001943.5(DSG2):c.170C>T (p.Ala57Val)
|
rs756635006
|
|
|
NM_001943.5(DSG2):c.1722C>A (p.Asp574Glu)
|
rs2073247879
|
|
|
NM_001943.5(DSG2):c.1729G>C (p.Gly577Arg)
|
|
|
|
NM_001943.5(DSG2):c.172C>G (p.Leu58Val)
|
rs780300040
|
|
|
NM_001943.5(DSG2):c.172C>T (p.Leu58Phe)
|
|
|
|
NM_001943.5(DSG2):c.1730G>C (p.Gly577Ala)
|
rs1567931644
|
|
|
NM_001943.5(DSG2):c.1737T>C (p.Ser579=)
|
|
|
|
NM_001943.5(DSG2):c.1744G>A (p.Glu582Lys)
|
|
|
|
NM_001943.5(DSG2):c.1752G>A (p.Gln584=)
|
|
|
|
NM_001943.5(DSG2):c.1752_1784del (p.Gln584_Leu594del)
|
rs1333431543
|
|
|
NM_001943.5(DSG2):c.1755C>G (p.Val585=)
|
rs1273719218
|
|
|
NM_001943.5(DSG2):c.1759dup (p.Thr587fs)
|
|
|
|
NM_001943.5(DSG2):c.1760C>A (p.Thr587Lys)
|
|
|
|
NM_001943.5(DSG2):c.1762C>G (p.Leu588Val)
|
rs1278145047
|
|
|
NM_001943.5(DSG2):c.1768G>A (p.Val590Ile)
|
|
|
|
NM_001943.5(DSG2):c.1768G>C (p.Val590Leu)
|
rs2073248446
|
|
|
NM_001943.5(DSG2):c.1773_1774del (p.Cys591_Glu592delinsTer)
|
rs397516703
|
|
|
NM_001943.5(DSG2):c.177G>A (p.Arg59=)
|
rs1568104857
|
|
|
NM_001943.5(DSG2):c.1786G>A (p.Gly596Ser)
|
|
|
|
NM_001943.5(DSG2):c.1791C>A (p.Ser597Arg)
|
|
|
|
NM_001943.5(DSG2):c.1793G>C (p.Gly598Ala)
|
rs1598821488
|
|
|
NM_001943.5(DSG2):c.1795T>C (p.Cys599Arg)
|
rs762413624
|
|
|
NM_001943.5(DSG2):c.1796G>T (p.Cys599Phe)
|
|
|
|
NM_001943.5(DSG2):c.1801G>A (p.Glu601Lys)
|
rs1598821506
|
|
|
NM_001943.5(DSG2):c.1801del (p.Glu601fs)
|
|
|
|
NM_001943.5(DSG2):c.180G>A (p.Glu60=)
|
|
|
|
NM_001943.5(DSG2):c.1811A>G (p.His604Arg)
|
rs1359949181
|
|
|
NM_001943.5(DSG2):c.1820A>T (p.Tyr607Phe)
|
rs766843045
|
|
|
NM_001943.5(DSG2):c.1825G>C (p.Gly609Arg)
|
rs2144346907
|
|
|
NM_001943.5(DSG2):c.1826dup (p.Leu610fs)
|
rs1039633976
|
|
|
NM_001943.5(DSG2):c.182G>T (p.Gly61Val)
|
rs779224655
|
|
|
NM_001943.5(DSG2):c.1846G>A (p.Ala616Thr)
|
|
|
|
NM_001943.5(DSG2):c.1848G>A (p.Ala616=)
|
rs372349945
|
|
|
NM_001943.5(DSG2):c.1848G>C (p.Ala616=)
|
rs372349945
|
|
|
NM_001943.5(DSG2):c.1848G>T (p.Ala616=)
|
rs372349945
|
|
|
NM_001943.5(DSG2):c.1851C>G (p.Leu617=)
|
|
|
|
NM_001943.5(DSG2):c.1863C>G (p.Ala621=)
|
rs768150787
|
|
|
NM_001943.5(DSG2):c.1878A>T (p.Leu626=)
|
|
|
|
NM_001943.5(DSG2):c.1879+16_1879+26del
|
rs2073249922
|
|
|
NM_001943.5(DSG2):c.1879+17C>A
|
rs2144347091
|
|
|
NM_001943.5(DSG2):c.1879+19C>G
|
|
|
|
NM_001943.5(DSG2):c.1879+19C>T
|
|
|
|
NM_001943.5(DSG2):c.1879+8T>C
|
rs2073249877
|
|
|
NM_001943.5(DSG2):c.1880-10G>A
|
rs2144350506
|
|
|
NM_001943.5(DSG2):c.1880-17A>G
|
rs1295022734
|
|
|
NM_001943.5(DSG2):c.1880-2A>G
|
rs397514038
|
|
|
NM_001943.5(DSG2):c.1881G>A (p.Leu627=)
|
|
|
|
NM_001943.5(DSG2):c.188A>T (p.Asp63Val)
|
|
|
|
NM_001943.5(DSG2):c.1919_1932del (p.Gly640fs)
|
rs754133577
|
|
|
NM_001943.5(DSG2):c.1932T>C (p.Phe644=)
|
rs2073265410
|
|
|
NM_001943.5(DSG2):c.1933A>T (p.Thr645Ser)
|
rs1229669407
|
|
|
NM_001943.5(DSG2):c.1952T>C (p.Ile651Thr)
|
rs766353242
|
|
|
NM_001943.5(DSG2):c.1952T>G (p.Ile651Arg)
|
rs766353242
|
|
|
NM_001943.5(DSG2):c.1959G>A (p.Met653Ile)
|
rs794728088
|
|
|
NM_001943.5(DSG2):c.195C>T (p.Ser65=)
|
rs2144314326
|
|
|
NM_001943.5(DSG2):c.1964A>T (p.His655Leu)
|
|
|
|
NM_001943.5(DSG2):c.196A>C (p.Lys66Gln)
|
|
|
|
NM_001943.5(DSG2):c.1973A>C (p.Asn658Thr)
|
|
|
|
NM_001943.5(DSG2):c.1983A>C (p.Gly661=)
|
rs1419115728
|
|
|
NM_001943.5(DSG2):c.1986A>G (p.Ala662=)
|
rs1598823030
|
|
|
NM_001943.5(DSG2):c.1988C>T (p.Pro663Leu)
|
rs893262083
|
|
|
NM_001943.5(DSG2):c.1995A>G (p.Glu665=)
|
rs2144350890
|
|
|
NM_001943.5(DSG2):c.1998C>T (p.Asp666=)
|
rs1012080257
|
|
|
NM_001943.5(DSG2):c.2000A>G (p.Lys667Arg)
|
rs2144350910
|
|
|
NM_001943.5(DSG2):c.2001+1G>A
|
|
|
|
NM_001943.5(DSG2):c.2001+20A>C
|
|
|
|
NM_001943.5(DSG2):c.2001+3C>T
|
|
|
|
NM_001943.5(DSG2):c.2001+9A>G
|
rs770547224
|
|
|
NM_001943.5(DSG2):c.2001_2001+5del
|
rs779360113
|
|
|
NM_001943.5(DSG2):c.2002-7C>G
|
rs1415718078
|
|
|
NM_001943.5(DSG2):c.2004G>T (p.Val668=)
|
|
|
|
NM_001943.5(DSG2):c.2006T>A (p.Val669Glu)
|
rs1036247495
|
|
|
NM_001943.5(DSG2):c.2007G>A (p.Val669=)
|
rs2073274655
|
|
|
NM_001943.5(DSG2):c.2009CAT[3] (p.Ser671_Phe672insSer)
|
|
|
|
NM_001943.5(DSG2):c.200A>G (p.Lys67Arg)
|
|
|
|
NM_001943.5(DSG2):c.2014T>C (p.Phe672Leu)
|
rs2144352923
|
|
|
NM_001943.5(DSG2):c.2019G>C (p.Leu673=)
|
rs886053715
|
|
|
NM_001943.5(DSG2):c.2020C>T (p.Pro674Ser)
|
rs2144352935
|
|
|
NM_001943.5(DSG2):c.2033G>T (p.Gly678Val)
|
|
|
|
NM_001943.5(DSG2):c.2040T>C (p.Ser680=)
|
|
|
|
NM_001943.5(DSG2):c.2047G>C (p.Gly683Arg)
|
|
|
|
NM_001943.5(DSG2):c.2050A>G (p.Arg684Gly)
|
|
|
|
NM_001943.5(DSG2):c.2063G>A (p.Gly688Glu)
|
|
|
|
NM_001943.5(DSG2):c.2065G>C (p.Gly689Arg)
|
|
|
|
NM_001943.5(DSG2):c.2075A>C (p.Lys692Thr)
|
|
|
|
NM_001943.5(DSG2):c.2077G>A (p.Glu693Lys)
|
rs2144353065
|
|
|
NM_001943.5(DSG2):c.2081C>G (p.Ala694Gly)
|
|
|
|
NM_001943.5(DSG2):c.2085G>C (p.Thr695=)
|
rs554396523
|
|
|
NM_001943.5(DSG2):c.2088G>A (p.Met696Ile)
|
rs1598823943
|
|
|
NM_001943.5(DSG2):c.2098A>G (p.Ser700Gly)
|
|
|
|
NM_001943.5(DSG2):c.20G>C (p.Arg7Pro)
|
|
|
|
NM_001943.5(DSG2):c.2104G>A (p.Ala702Thr)
|
rs2144353139
|
|
|
NM_001943.5(DSG2):c.210T>C (p.Ile70=)
|
rs202202636
|
|
|
NM_001943.5(DSG2):c.2112T>G (p.Ile704Met)
|
rs794728081
|
|
|
NM_001943.5(DSG2):c.2124A>G (p.Gln708=)
|
|
|
|
NM_001943.5(DSG2):c.2124A>T (p.Gln708His)
|
|
|
|
NM_001943.5(DSG2):c.2127T>C (p.His709=)
|
rs876657457
|
|
|
NM_001943.5(DSG2):c.2134_2142del (p.Ser712_Met714del)
|
rs778319427
|
|
|
NM_001943.5(DSG2):c.2139G>C (p.Glu713Asp)
|
|
|
|
NM_001943.5(DSG2):c.2143G>T (p.Asp715Tyr)
|
rs2073276150
|
|
|
NM_001943.5(DSG2):c.214A>G (p.Lys72Glu)
|
|
|
|
NM_001943.5(DSG2):c.216+19C>A
|
|
|
|
NM_001943.5(DSG2):c.216+1G>T
|
rs1316380114
|
|
|
NM_001943.5(DSG2):c.216+20A>G
|
|
|
|
NM_001943.5(DSG2):c.216+3A>G
|
rs774208829
|
|
|
NM_001943.5(DSG2):c.2166A>T (p.Arg722Ser)
|
rs2073276336
|
|
|
NM_001943.5(DSG2):c.2169C>T (p.Ser723=)
|
rs2073276369
|
|
|
NM_001943.5(DSG2):c.217-19C>T
|
|
|
|
NM_001943.5(DSG2):c.217-2A>G
|
rs2144315483
|
|
|
NM_001943.5(DSG2):c.217-7A>G
|
rs755415569
|
|
|
NM_001943.5(DSG2):c.217-7_217-6del
|
|
|
|
NM_001943.5(DSG2):c.217-7dup
|
|
|
|
NM_001943.5(DSG2):c.2172G>A (p.Leu724=)
|
rs1230504092
|
|
|
NM_001943.5(DSG2):c.2174T>C (p.Leu725Pro)
|
rs960047010
|
|
|
NM_001943.5(DSG2):c.2178T>C (p.Ser726=)
|
rs749897373
|
|
|
NM_001943.5(DSG2):c.2181T>C (p.Gly727=)
|
|
|
|
NM_001943.5(DSG2):c.2188A>G (p.Thr730Ala)
|
rs780650226
|
|
|
NM_001943.5(DSG2):c.2215A>C (p.Ile739Leu)
|
rs772240008
|
|
|
NM_001943.5(DSG2):c.2215A>T (p.Ile739Phe)
|
rs772240008
|
|
|
NM_001943.5(DSG2):c.2222C>T (p.Thr741Ile)
|
|
|
|
NM_001943.5(DSG2):c.2235G>A (p.Thr745=)
|
rs759572082
|
|
|
NM_001943.5(DSG2):c.2235G>T (p.Thr745=)
|
|
|
|
NM_001943.5(DSG2):c.2242G>A (p.Ala748Thr)
|
rs763994831
|
|
|
NM_001943.5(DSG2):c.2242G>T (p.Ala748Ser)
|
rs763994831
|
|
|
NM_001943.5(DSG2):c.2257del (p.Ala753fs)
|
rs1567933176
|
|
|
NM_001943.5(DSG2):c.2263A>G (p.Arg755Gly)
|
rs2144353569
|
|
|
NM_001943.5(DSG2):c.2268C>T (p.Asp756=)
|
|
|
|
NM_001943.5(DSG2):c.2270T>C (p.Met757Thr)
|
rs876657792
|
|
|
NM_001943.5(DSG2):c.2272G>A (p.Ala758Thr)
|
|
|
|
NM_001943.5(DSG2):c.2276G>C (p.Gly759Ala)
|
rs2073277829
|
|
|
NM_001943.5(DSG2):c.2284G>A (p.Ala762Thr)
|
rs2144353655
|
|
|
NM_001943.5(DSG2):c.2285C>A (p.Ala762Glu)
|
|
|
|
NM_001943.5(DSG2):c.2289T>C (p.Ala763=)
|
rs2144353689
|
|
|
NM_001943.5(DSG2):c.228T>C (p.Asp76=)
|
|
|
|
NM_001943.5(DSG2):c.2295T>G (p.Val765=)
|
rs2144353723
|
|
|
NM_001943.5(DSG2):c.2296G>A (p.Ala766Thr)
|
|
|
|
NM_001943.5(DSG2):c.2298A>C (p.Ala766=)
|
rs2144353732
|
|
|
NM_001943.5(DSG2):c.2303A>C (p.Asn768Thr)
|
|
|
|
NM_001943.5(DSG2):c.2308G>A (p.Glu770Lys)
|
|
|
|
NM_001943.5(DSG2):c.2321del (p.Asn774fs)
|
|
|
|
NM_001943.5(DSG2):c.2327T>C (p.Phe776Ser)
|
rs2144353836
|
|
|
NM_001943.5(DSG2):c.2334+10_2334+11del
|
|
|
|
NM_001943.5(DSG2):c.2334+11G>A
|
|
|
|
NM_001943.5(DSG2):c.2334+2dup
|
|
|
|
NM_001943.5(DSG2):c.2334+8T>C
|
rs2144353870
|
|
|
NM_001943.5(DSG2):c.2335-19T>C
|
|
|
|
NM_001943.5(DSG2):c.2340G>A (p.Ala780=)
|
rs375539435
|
|
|
NM_001943.5(DSG2):c.2343C>G (p.Ala781=)
|
|
|
|
NM_001943.5(DSG2):c.2343_2344insAAGA (p.Ser782fs)
|
rs1252006527
|
|
|
NM_001943.5(DSG2):c.2353G>A (p.Glu785Lys)
|
|
|
|
NM_001943.5(DSG2):c.235G>A (p.Glu79Lys)
|
|
|
|
NM_001943.5(DSG2):c.2361T>C (p.Asp787=)
|
rs1486707230
|
|
|
NM_001943.5(DSG2):c.2366A>C (p.Asn789Thr)
|
rs2073300346
|
|
|
NM_001943.5(DSG2):c.2366A>G (p.Asn789Ser)
|
rs2073300346
|
|
|
NM_001943.5(DSG2):c.2372_2373del (p.Thr791fs)
|
rs794728098
|
|
|
NM_001943.5(DSG2):c.2373A>G (p.Thr791=)
|
rs2073300563
|
|
|
NM_001943.5(DSG2):c.2376C>G (p.Ala792=)
|
|
|
|
NM_001943.5(DSG2):c.2377A>G (p.Lys793Glu)
|
rs2073300770
|
|
|
NM_001943.5(DSG2):c.2382T>C (p.Asp794=)
|
rs2144358730
|
|
|
NM_001943.5(DSG2):c.238G>A (p.Glu80Lys)
|
rs2073123125
|
|
|
NM_001943.5(DSG2):c.2397T>G (p.Tyr799Ter)
|
rs200201181
|
|
|
NM_001943.5(DSG2):c.2411C>G (p.Thr804Ser)
|
|
|
|
NM_001943.5(DSG2):c.2415A>G (p.Glu805=)
|
|
|
|
NM_001943.5(DSG2):c.2418G>T (p.Ser806=)
|
rs751831001
|
|
|
NM_001943.5(DSG2):c.2419C>T (p.Leu807=)
|
rs201416898
|
|
|
NM_001943.5(DSG2):c.2428T>A (p.Ser810Thr)
|
rs1555628166
|
|
|
NM_001943.5(DSG2):c.2430T>C (p.Ser810=)
|
rs781616050
|
|
|
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys)
|
rs121913010
|
|
|
NM_001943.5(DSG2):c.2443A>C (p.Ser815Arg)
|
rs1227447609
|
|
|
NM_001943.5(DSG2):c.2444G>A (p.Ser815Asn)
|
rs2144358945
|
|
|
NM_001943.5(DSG2):c.2447T>A (p.Phe816Tyr)
|
rs1284559802
|
|
|
NM_001943.5(DSG2):c.2459A>G (p.Glu820Gly)
|
|
|
|
NM_001943.5(DSG2):c.245G>A (p.Gly82Glu)
|
rs756081987
|
|
|
NM_001943.5(DSG2):c.245G>T (p.Gly82Val)
|
rs756081987
|
|
|
NM_001943.5(DSG2):c.2472C>T (p.Arg824=)
|
rs2073302212
|
|
|
NM_001943.5(DSG2):c.2479G>C (p.Asp827His)
|
|
|
|
NM_001943.5(DSG2):c.2480_2712del (p.Asp827fs)
|
rs2144359029
|
|
|
NM_001943.5(DSG2):c.2485T>A (p.Leu829Met)
|
rs968817397
|
|
|
NM_001943.5(DSG2):c.2492T>C (p.Leu831Pro)
|
|
|
|
NM_001943.5(DSG2):c.2504_2505inv (p.Thr835Met)
|
|
|
|
NM_001943.5(DSG2):c.2507T>C (p.Leu836Pro)
|
rs1425278506
|
|
|
NM_001943.5(DSG2):c.251A>G (p.Lys84Arg)
|
|
|
|
NM_001943.5(DSG2):c.2533del (p.Lys844_Ile845insTer)
|
rs1375081885
|
|
|
NM_001943.5(DSG2):c.2536G>T (p.Asp846Tyr)
|
rs1226243364
|
|
|
NM_001943.5(DSG2):c.254T>C (p.Ile85Thr)
|
|
|
|
NM_001943.5(DSG2):c.2551del (p.Ile851fs)
|
rs763907170
|
|
|
NM_001943.5(DSG2):c.2554G>T (p.Glu852Ter)
|
|
|
|
NM_001943.5(DSG2):c.2562A>T (p.Arg854Ser)
|
rs1482979438
|
|
|
NM_001943.5(DSG2):c.2572G>T (p.Ala858Ser)
|
rs748800693
|
|
|
NM_001943.5(DSG2):c.2575A>G (p.Thr859Ala)
|
rs886039011
|
|
|
NM_001943.5(DSG2):c.2576C>T (p.Thr859Ile)
|
rs1445054250
|
|
|
NM_001943.5(DSG2):c.2581A>G (p.Thr861Ala)
|
rs1598826621
|
|
|
NM_001943.5(DSG2):c.2585G>C (p.Ser862Thr)
|
rs1598826629
|
|
|
NM_001943.5(DSG2):c.2592C>T (p.Asn864=)
|
|
|
|
NM_001943.5(DSG2):c.2593A>C (p.Thr865Pro)
|
rs866344768
|
|
|
NM_001943.5(DSG2):c.2616G>T (p.Glu872Asp)
|
|
|
|
NM_001943.5(DSG2):c.2617C>T (p.Gln873Ter)
|
|
|
|
NM_001943.5(DSG2):c.2619A>G (p.Gln873=)
|
rs757120095
|
|
|
NM_001943.5(DSG2):c.2620del (p.Thr874fs)
|
rs755243947
|
|
|
NM_001943.5(DSG2):c.2639_2641del (p.Asn880del)
|
|
|
|
NM_001943.5(DSG2):c.2643C>A (p.Thr881=)
|
rs180695545
|
|
|
NM_001943.5(DSG2):c.2645A>C (p.Tyr882Ser)
|
rs1555628211
|
|
|
NM_001943.5(DSG2):c.2646CTC[1] (p.Ser884del)
|
rs794728095
|
|
|
NM_001943.5(DSG2):c.2654G>A (p.Gly885Asp)
|
|
|
|
NM_001943.5(DSG2):c.2657G>A (p.Ser886Asn)
|
rs1454240099
|
|
|
NM_001943.5(DSG2):c.2659A>G (p.Ser887Gly)
|
rs1598826780
|
|
|
NM_001943.5(DSG2):c.2669T>G (p.Val890Gly)
|
|
|
|
NM_001943.5(DSG2):c.2699A>G (p.Glu900Gly)
|
|
|
|
NM_001943.5(DSG2):c.26A>T (p.Tyr9Phe)
|
rs2144276572
|
|
|
NM_001943.5(DSG2):c.2700G>T (p.Glu900Asp)
|
rs1396387126
|
|
|
NM_001943.5(DSG2):c.2712G>A (p.Gln904=)
|
rs779837813
|
|
|
NM_001943.5(DSG2):c.2720T>G (p.Val907Gly)
|
rs2073306318
|
|
|
NM_001943.5(DSG2):c.2727A>C (p.Glu909Asp)
|
rs771675609
|
|
|
NM_001943.5(DSG2):c.2730A>G (p.Arg910=)
|
|
|
|
NM_001943.5(DSG2):c.2731T>C (p.Ser911Pro)
|
|
|
|
NM_001943.5(DSG2):c.2737T>C (p.Ser913Pro)
|
|
|
|
NM_001943.5(DSG2):c.2739T>A (p.Ser913=)
|
rs2144360064
|
|
|
NM_001943.5(DSG2):c.2758G>A (p.Val920Ile)
|
rs547741894
|
|
|
NM_001943.5(DSG2):c.2758G>C (p.Val920Leu)
|
rs547741894
|
|
|
NM_001943.5(DSG2):c.2761_2764dup (p.Thr922fs)
|
rs1567934720
|
|
|
NM_001943.5(DSG2):c.2766A>C (p.Thr922=)
|
rs1347885484
|
|
|
NM_001943.5(DSG2):c.276A>C (p.Lys92Asn)
|
rs2144315629
|
|
|
NM_001943.5(DSG2):c.278G>A (p.Gly93Glu)
|
|
|
|
NM_001943.5(DSG2):c.2797G>T (p.Val933Leu)
|
rs373055076
|
|
|
NM_001943.5(DSG2):c.2799G>T (p.Val933=)
|
|
|
|
NM_001943.5(DSG2):c.27C>A (p.Tyr9Ter)
|
rs1452179158
|
|
|
NM_001943.5(DSG2):c.2800A>G (p.Ile934Val)
|
rs1469730786
|
|
|
NM_001943.5(DSG2):c.2803G>A (p.Ala935Thr)
|
|
|
|
NM_001943.5(DSG2):c.2817del (p.Tyr940fs)
|
rs1567934773
|
|
|
NM_001943.5(DSG2):c.2825C>T (p.Thr942Ile)
|
rs771429752
|
|
|
NM_001943.5(DSG2):c.2830T>C (p.Ser944Pro)
|
rs1183510455
|
|
|
NM_001943.5(DSG2):c.2831C>G (p.Ser944Cys)
|
|
|
|
NM_001943.5(DSG2):c.2836A>C (p.Met946Leu)
|
|
|
|
NM_001943.5(DSG2):c.2836A>G (p.Met946Val)
|
rs770026700
|
|
|
NM_001943.5(DSG2):c.283A>G (p.Thr95Ala)
|
|
|
|
NM_001943.5(DSG2):c.2840C>T (p.Pro947Leu)
|
rs2144360381
|
|
|
NM_001943.5(DSG2):c.2856C>T (p.Ile952=)
|
|
|
|
NM_001943.5(DSG2):c.2857del (p.Leu953fs)
|
rs2073308127
|
|
|
NM_001943.5(DSG2):c.2860G>T (p.Gly954Cys)
|
|
|
|
NM_001943.5(DSG2):c.2861G>A (p.Gly954Asp)
|
rs1397270448
|
|
|
NM_001943.5(DSG2):c.2868C>T (p.Ser956=)
|
rs2144360449
|
|
|
NM_001943.5(DSG2):c.2875_2876del (p.Gln959fs)
|
rs727502990
|
|
|
NM_001943.5(DSG2):c.2881C>T (p.Leu961Phe)
|
|
|
|
NM_001943.5(DSG2):c.2887G>T (p.Val963Leu)
|
|
|
|
NM_001943.5(DSG2):c.2893G>A (p.Glu965Lys)
|
rs1326783146
|
|
|
NM_001943.5(DSG2):c.2898G>A (p.Arg966=)
|
rs746543384
|
|
|
NM_001943.5(DSG2):c.2908C>G (p.Pro970Ala)
|
|
|
|
NM_001943.5(DSG2):c.290del (p.Pro97fs)
|
|
|
|
NM_001943.5(DSG2):c.2914T>C (p.Ser972Pro)
|
|
|
|
NM_001943.5(DSG2):c.2914T>G (p.Ser972Ala)
|
rs2073308983
|
|
|
NM_001943.5(DSG2):c.2919C>G (p.Thr973=)
|
|
|
|
NM_001943.5(DSG2):c.291A>C (p.Pro97=)
|
rs727502983
|
|
|
NM_001943.5(DSG2):c.2923del (p.Leu974_Val975insTer)
|
rs794728084
|
|
|
NM_001943.5(DSG2):c.292C>T (p.Pro98Ser)
|
rs2073123674
|
|
|
NM_001943.5(DSG2):c.2933C>G (p.Pro978Arg)
|
|
|
|
NM_001943.5(DSG2):c.2944G>A (p.Glu982Lys)
|
rs781744343
|
|
|
NM_001943.5(DSG2):c.2948G>A (p.Gly983Asp)
|
rs746359987
|
|
|
NM_001943.5(DSG2):c.2949T>G (p.Gly983=)
|
rs921097993
|
|
|
NM_001943.5(DSG2):c.2951C>G (p.Thr984Arg)
|
|
|
|
NM_001943.5(DSG2):c.2955T>C (p.Val985=)
|
|
|
|
NM_001943.5(DSG2):c.2955del (p.Val986fs)
|
rs1064794709
|
|
|
NM_001943.5(DSG2):c.2965G>C (p.Glu989Gln)
|
|
|
|
NM_001943.5(DSG2):c.2974A>G (p.Ile992Val)
|
rs933743259
|
|
|
NM_001943.5(DSG2):c.2976A>G (p.Ile992Met)
|
rs776686758
|
|
|
NM_001943.5(DSG2):c.2979G>A (p.Gln993=)
|
|
|
|
NM_001943.5(DSG2):c.2980C>T (p.Pro994Ser)
|
|
|
|
NM_001943.5(DSG2):c.2988G>C (p.Gly996=)
|
rs1322460685
|
|
|
NM_001943.5(DSG2):c.2988G>T (p.Gly996=)
|
|
|
|
NM_001943.5(DSG2):c.2989G>T (p.Gly997Cys)
|
rs1203880394
|
|
|
NM_001943.5(DSG2):c.2990G>A (p.Gly997Asp)
|
rs1245395139
|
|
|
NM_001943.5(DSG2):c.2990del (p.Gly997fs)
|
rs1252426323
|
|
|
NM_001943.5(DSG2):c.299G>T (p.Gly100Val)
|
rs1236559318
|
|
|
NM_001943.5(DSG2):c.3004C>T (p.Leu1002=)
|
rs377658424
|
|
|
NM_001943.5(DSG2):c.3009A>G (p.Glu1003=)
|
rs2144361036
|
|
|
NM_001943.5(DSG2):c.3013A>C (p.Thr1005Pro)
|
|
|
|
NM_001943.5(DSG2):c.3018G>C (p.Gln1006His)
|
|
|
|
NM_001943.5(DSG2):c.301A>G (p.Ile101Val)
|
|
|
|
NM_001943.5(DSG2):c.3030T>C (p.Asp1010=)
|
|
|
|
NM_001943.5(DSG2):c.3033A>G (p.Val1011=)
|
rs2144361116
|
|
|
NM_001943.5(DSG2):c.3037T>C (p.Tyr1013His)
|
|
|
|
NM_001943.5(DSG2):c.3038A>C (p.Tyr1013Ser)
|
|
|
|
NM_001943.5(DSG2):c.3046G>A (p.Val1016Met)
|
rs2073311048
|
|
|
NM_001943.5(DSG2):c.3048G>A (p.Val1016=)
|
|
|
|
NM_001943.5(DSG2):c.3052dup (p.Glu1018fs)
|
rs1261674855
|
|
|
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs)
|
rs397516706
|
|
|
NM_001943.5(DSG2):c.305T>A (p.Phe102Tyr)
|
rs2073123855
|
|
|
NM_001943.5(DSG2):c.3060G>T (p.Glu1020Asp)
|
|
|
|
NM_001943.5(DSG2):c.3061_3062del (p.Ser1021fs)
|
rs397516706
|
|
|
NM_001943.5(DSG2):c.3066C>T (p.Phe1022=)
|
|
|
|
NM_001943.5(DSG2):c.3077G>A (p.Ser1026Asn)
|
|
|
|
NM_001943.5(DSG2):c.307_308del (p.Val103fs)
|
rs1555671201
|
|
|
NM_001943.5(DSG2):c.3091C>T (p.Pro1031Ser)
|
rs2144361340
|
|
|
NM_001943.5(DSG2):c.30C>A (p.Ala10=)
|
rs1568098547
|
|
|
NM_001943.5(DSG2):c.3100G>T (p.Ala1034Ser)
|
rs2144361362
|
|
|
NM_001943.5(DSG2):c.3116C>T (p.Ala1039Val)
|
|
|
|
NM_001943.5(DSG2):c.3123dup (p.Gln1042fs)
|
|
|
|
NM_001943.5(DSG2):c.3136G>A (p.Val1046Met)
|
|
|
|
NM_001943.5(DSG2):c.3138G>T (p.Val1046=)
|
rs2144361501
|
|
|
NM_001943.5(DSG2):c.3140C>G (p.Thr1047Arg)
|
rs397516707
|
|
|
NM_001943.5(DSG2):c.3142_3143del (p.Glu1048fs)
|
|
|
|
NM_001943.5(DSG2):c.3143_3160dup (p.Glu1048_Pro1053dup)
|
rs1319078257
|
|
|
NM_001943.5(DSG2):c.3144_3147del (p.Arg1049fs)
|
rs758822081
|
|
|
NM_001943.5(DSG2):c.3146G>T (p.Arg1049Ile)
|
|
|
|
NM_001943.5(DSG2):c.3147A>G (p.Arg1049=)
|
rs973445903
|
|
|
NM_001943.5(DSG2):c.3151C>A (p.Leu1051Ile)
|
|
|
|
NM_001943.5(DSG2):c.3158C>G (p.Pro1053Arg)
|
|
|
|
NM_001943.5(DSG2):c.3160G>C (p.Ala1054Pro)
|
|
|
|
NM_001943.5(DSG2):c.3165C>T (p.Ser1055=)
|
rs2144361600
|
|
|
NM_001943.5(DSG2):c.3165dup (p.Thr1056fs)
|
rs2073312554
|
|
|
NM_001943.5(DSG2):c.3174A>G (p.Gln1058=)
|
rs2073312645
|
|
|
NM_001943.5(DSG2):c.3175T>A (p.Ser1059Thr)
|
rs201786158
|
|
|
NM_001943.5(DSG2):c.3185del (p.Gln1062fs)
|
rs2144361650
|
|
|
NM_001943.5(DSG2):c.3198A>G (p.Glu1066=)
|
rs727504601
|
|
|
NM_001943.5(DSG2):c.31C>G (p.Leu11Val)
|
|
|
|
NM_001943.5(DSG2):c.3210G>T (p.Thr1070=)
|
rs771104963
|
|
|
NM_001943.5(DSG2):c.3213dup (p.Arg1072Ter)
|
|
|
|
NM_001943.5(DSG2):c.3222C>T (p.Thr1074=)
|
|
|
|
NM_001943.5(DSG2):c.3226G>T (p.Val1076Leu)
|
rs761545577
|
|
|
NM_001943.5(DSG2):c.3227T>C (p.Val1076Ala)
|
|
|
|
NM_001943.5(DSG2):c.3233G>C (p.Gly1078Ala)
|
rs1064795829
|
|
|
NM_001943.5(DSG2):c.323C>G (p.Thr108Ser)
|
rs1284705376
|
|
|
NM_001943.5(DSG2):c.3257C>T (p.Pro1086Leu)
|
|
|
|
NM_001943.5(DSG2):c.325G>A (p.Gly109Arg)
|
|
|
|
NM_001943.5(DSG2):c.3266G>T (p.Gly1089Val)
|
rs200264407
|
|
|
NM_001943.5(DSG2):c.3280G>C (p.Gly1094Arg)
|
rs2073313909
|
|
|
NM_001943.5(DSG2):c.3281G>A (p.Gly1094Asp)
|
rs144313973
|
|
|
NM_001943.5(DSG2):c.3281G>T (p.Gly1094Val)
|
|
|
|
NM_001943.5(DSG2):c.3281_3283delinsTTA (p.Gly1094_His1095delinsValAsn)
|
rs386802145
|
|
|
NM_001943.5(DSG2):c.3294T>C (p.Ser1098=)
|
|
|
|
NM_001943.5(DSG2):c.3295A>T (p.Thr1099Ser)
|
rs79068489
|
|
|
NM_001943.5(DSG2):c.32T>G (p.Leu11Arg)
|
rs2144276606
|
|
|
NM_001943.5(DSG2):c.3304A>G (p.Thr1102Ala)
|
rs778884735
|
|
|
NM_001943.5(DSG2):c.3306A>G (p.Thr1102=)
|
rs747930194
|
|
|
NM_001943.5(DSG2):c.3308C>G (p.Ser1103Cys)
|
rs2073314462
|
|
|
NM_001943.5(DSG2):c.3312del (p.Thr1105fs)
|
rs1413344418
|
|
|
NM_001943.5(DSG2):c.3329A>C (p.His1110Pro)
|
|
|
|
NM_001943.5(DSG2):c.3330T>C (p.His1110=)
|
|
|
|
NM_001943.5(DSG2):c.3331A>T (p.Ser1111Cys)
|
|
|
|
NM_001943.5(DSG2):c.3333C>T (p.Ser1111=)
|
|
|
|
NM_001943.5(DSG2):c.3336T>A (p.Thr1112=)
|
|
|
|
NM_001943.5(DSG2):c.3336T>G (p.Thr1112=)
|
rs1555628388
|
|
|
NM_001943.5(DSG2):c.3337G>C (p.Val1113Leu)
|
rs924943447
|
|
|
NM_001943.5(DSG2):c.3340C>T (p.Gln1114Ter)
|
rs776078563
|
|
|
NM_001943.5(DSG2):c.3350A>T (p.Tyr1117Phe)
|
|
|
|
NM_001943.5(DSG2):c.3357A>T (p.Ter1119Tyr)
|
rs2144362223
|
|
|
NM_001943.5(DSG2):c.335A>G (p.Asn112Ser)
|
rs2144315760
|
|
|
NM_001943.5(DSG2):c.33G>C (p.Leu11=)
|
|
|
|
NM_001943.5(DSG2):c.344G>A (p.Ser115Asn)
|
rs2073124006
|
|
|
NM_001943.5(DSG2):c.349C>A (p.Leu117Ile)
|
|
|
|
NM_001943.5(DSG2):c.361G>T (p.Glu121Ter)
|
|
|
|
NM_001943.5(DSG2):c.367C>T (p.Pro123Ser)
|
rs2073124113
|
|
|
NM_001943.5(DSG2):c.368C>T (p.Pro123Leu)
|
|
|
|
NM_001943.5(DSG2):c.369A>G (p.Pro123=)
|
rs2144315797
|
|
|
NM_001943.5(DSG2):c.378+16T>C
|
|
|
|
NM_001943.5(DSG2):c.378+8_378+10del
|
rs2144315812
|
|
|
NM_001943.5(DSG2):c.379-10A>G
|
|
|
|
NM_001943.5(DSG2):c.379-18T>C
|
|
|
|
NM_001943.5(DSG2):c.379-20T>A
|
|
|
|
NM_001943.5(DSG2):c.379-22_379-18del
|
rs1598810622
|
|
|
NM_001943.5(DSG2):c.379-6T>C
|
|
|
|
NM_001943.5(DSG2):c.37C>T (p.Leu13Phe)
|
rs1276147010
|
|
|
NM_001943.5(DSG2):c.382del (p.Thr128fs)
|
|
|
|
NM_001943.5(DSG2):c.384A>G (p.Thr128=)
|
rs561929524
|
|
|
NM_001943.5(DSG2):c.385G>T (p.Gly129Cys)
|
rs2073125035
|
|
|
NM_001943.5(DSG2):c.391G>T (p.Ala131Ser)
|
rs373542380
|
|
|
NM_001943.5(DSG2):c.399T>G (p.Asp133Glu)
|
rs2073125147
|
|
|
NM_001943.5(DSG2):c.39T>G (p.Leu13=)
|
|
|
|
NM_001943.5(DSG2):c.423del (p.Lys141fs)
|
rs2073125384
|
|
|
NM_001943.5(DSG2):c.424C>A (p.Pro142Thr)
|
rs1005230453
|
|
|
NM_001943.5(DSG2):c.426C>A (p.Pro142=)
|
|
|
|
NM_001943.5(DSG2):c.426C>T (p.Pro142=)
|
rs772873493
|
|
|
NM_001943.5(DSG2):c.429A>G (p.Leu143=)
|
|
|
|
NM_001943.5(DSG2):c.42C>T (p.Leu14=)
|
rs1555669691
|
|
|
NM_001943.5(DSG2):c.42_44del (p.Leu15del)
|
rs2072994567
|
|
|
NM_001943.5(DSG2):c.436C>T (p.Arg146Cys)
|
|
|
|
NM_001943.5(DSG2):c.437G>A (p.Arg146His)
|
rs113451409
|
|
|
NM_001943.5(DSG2):c.439A>G (p.Ile147Val)
|
rs1316807839
|
|
|
NM_001943.5(DSG2):c.442_450del (p.Lys148_Leu150del)
|
rs2073125611
|
|
|
NM_001943.5(DSG2):c.444G>A (p.Lys148=)
|
rs935833101
|
|
|
NM_001943.5(DSG2):c.45+10G>A
|
rs776975980
|
|
|
NM_001943.5(DSG2):c.45+10G>T
|
rs776975980
|
|
|
NM_001943.5(DSG2):c.45+15del
|
|
|
|
NM_001943.5(DSG2):c.45+18G>A
|
|
|
|
NM_001943.5(DSG2):c.45+1G>A
|
rs1568098570
|
|
|
NM_001943.5(DSG2):c.45+1G>C
|
rs1568098570
|
|
|
NM_001943.5(DSG2):c.45+1G>T
|
rs1568098570
|
|
|
NM_001943.5(DSG2):c.45+2T>C
|
|
|
|
NM_001943.5(DSG2):c.45+5G>C
|
rs1423214260
|
|
|
NM_001943.5(DSG2):c.45+6T>C
|
rs2072994676
|
|
|
NM_001943.5(DSG2):c.45+8C>T
|
|
|
|
NM_001943.5(DSG2):c.45+9C>T
|
rs376573409
|
|
|
NM_001943.5(DSG2):c.451G>A (p.Asp151Asn)
|
rs1598810722
|
|
|
NM_001943.5(DSG2):c.456C>T (p.Ile152=)
|
rs2144316237
|
|
|
NM_001943.5(DSG2):c.46-12T>A
|
|
|
|
NM_001943.5(DSG2):c.46-14A>C
|
|
|
|
NM_001943.5(DSG2):c.46-14A>G
|
|
|
|
NM_001943.5(DSG2):c.46-9A>G
|
rs2144311516
|
|
|
NM_001943.5(DSG2):c.462C>A (p.Asp154Glu)
|
rs2073125869
|
|
|
NM_001943.5(DSG2):c.462C>G (p.Asp154Glu)
|
|
|
|
NM_001943.5(DSG2):c.464A>G (p.Asn155Ser)
|
|
|
|
NM_001943.5(DSG2):c.464_465insT (p.Glu156fs)
|
rs794728091
|
|
|
NM_001943.5(DSG2):c.468A>G (p.Glu156=)
|
|
|
|
NM_001943.5(DSG2):c.471A>G (p.Pro157=)
|
|
|
|
NM_001943.5(DSG2):c.478A>G (p.Thr160Ala)
|
rs2073126133
|
|
|
NM_001943.5(DSG2):c.47T>C (p.Ile16Thr)
|
rs1478351535
|
|
|
NM_001943.5(DSG2):c.486T>A (p.Asp162Glu)
|
rs756239722
|
|
|
NM_001943.5(DSG2):c.486T>C (p.Asp162=)
|
|
|
|
NM_001943.5(DSG2):c.488T>C (p.Val163Ala)
|
|
|
|
NM_001943.5(DSG2):c.493G>A (p.Val165Ile)
|
|
|
|
NM_001943.5(DSG2):c.493G>T (p.Val165Phe)
|
|
|
|
NM_001943.5(DSG2):c.494T>C (p.Val165Ala)
|
|
|
|
NM_001943.5(DSG2):c.495dup (p.Gly166fs)
|
rs781532110
|
|
|
NM_001943.5(DSG2):c.498del (p.Ser167fs)
|
|
|
|
NM_001943.5(DSG2):c.501T>C (p.Ser167=)
|
rs2144316408
|
|
|
NM_001943.5(DSG2):c.505G>A (p.Glu169Lys)
|
|
|
|
NM_001943.5(DSG2):c.505G>T (p.Glu169Ter)
|
|
|
|
NM_001943.5(DSG2):c.512_516del (p.Leu171fs)
|
rs1568105371
|
|
|
NM_001943.5(DSG2):c.515G>T (p.Ser172Ile)
|
|
|
|
NM_001943.5(DSG2):c.523+19T>A
|
|
|
|
NM_001943.5(DSG2):c.523+1G>A
|
rs553299589
|
|
|
NM_001943.5(DSG2):c.523+1G>C
|
rs553299589
|
|
|
NM_001943.5(DSG2):c.523+1G>T
|
rs553299589
|
|
|
NM_001943.5(DSG2):c.523+1_523+2del
|
rs1598810829
|
|
|
NM_001943.5(DSG2):c.523+23_523+24del
|
rs77324780
|
|
|
NM_001943.5(DSG2):c.523+24del
|
rs77324780
|
|
|
NM_001943.5(DSG2):c.523+24dup
|
rs77324780
|
|
|
NM_001943.5(DSG2):c.523+4A>G
|
|
|
|
NM_001943.5(DSG2):c.523+9del
|
|
|
|
NM_001943.5(DSG2):c.524-13T>C
|
|
|
|
NM_001943.5(DSG2):c.524-16T>G
|
|
|
|
NM_001943.5(DSG2):c.524-18C>T
|
|
|
|
NM_001943.5(DSG2):c.524-2A>G
|
rs2144317638
|
|
|
NM_001943.5(DSG2):c.524-4C>T
|
|
|
|
NM_001943.5(DSG2):c.524-8A>C
|
|
|
|
NM_001943.5(DSG2):c.527_533del (p.Thr176fs)
|
rs2144317658
|
|
|
NM_001943.5(DSG2):c.530T>C (p.Leu177Pro)
|
|
|
|
NM_001943.5(DSG2):c.534G>T (p.Val178=)
|
|
|
|
NM_001943.5(DSG2):c.550A>G (p.Thr184Ala)
|
rs2073131261
|
|
|
NM_001943.5(DSG2):c.551C>T (p.Thr184Ile)
|
rs372605499
|
|
|
NM_001943.5(DSG2):c.558A>G (p.Ala186=)
|
|
|
|
NM_001943.5(DSG2):c.564_565delinsAA (p.Pro189Thr)
|
|
|
|
NM_001943.5(DSG2):c.572C>G (p.Thr191Ser)
|
rs1555671315
|
|
|
NM_001943.5(DSG2):c.573C>G (p.Thr191=)
|
rs769514389
|
|
|
NM_001943.5(DSG2):c.576G>C (p.Leu192=)
|
|
|
|
NM_001943.5(DSG2):c.586A>G (p.Ile196Val)
|
rs1422826393
|
|
|
NM_001943.5(DSG2):c.590C>G (p.Ser197Cys)
|
|
|
|
NM_001943.5(DSG2):c.601G>A (p.Val201Ile)
|
rs184100321
|
|
|
NM_001943.5(DSG2):c.603A>G (p.Val201=)
|
|
|
|
NM_001943.5(DSG2):c.60T>C (p.Val20=)
|
rs1173265371
|
|
|
NM_001943.5(DSG2):c.613_658dup (p.Ile220delinsThrCysLeuSerSerSerValLeuProLysTer)
|
rs2144317934
|
|
|
NM_001943.5(DSG2):c.618T>A (p.Ala206=)
|
rs397516710
|
|
|
NM_001943.5(DSG2):c.621T>C (p.Tyr207=)
|
rs2144317974
|
|
|
NM_001943.5(DSG2):c.621_626del (p.Tyr207_Pro209delinsTer)
|
rs1555671331
|
|
|
NM_001943.5(DSG2):c.624T>A (p.Pro208=)
|
rs1275487240
|
|
|
NM_001943.5(DSG2):c.630del (p.Phe211fs)
|
|
|
|
NM_001943.5(DSG2):c.649dup (p.Thr217fs)
|
rs1598811394
|
|
|
NM_001943.5(DSG2):c.650C>T (p.Thr217Ile)
|
rs776720174
|
|
|
NM_001943.5(DSG2):c.670A>G (p.Ser224Gly)
|
rs1060502863
|
|
|
NM_001943.5(DSG2):c.676_680del (p.Thr226fs)
|
rs2144318119
|
|
|
NM_001943.5(DSG2):c.677C>G (p.Thr226Ser)
|
|
|
|
NM_001943.5(DSG2):c.678C>G (p.Thr226=)
|
|
|
|
NM_001943.5(DSG2):c.680T>C (p.Leu227Ser)
|
|
|
|
NM_001943.5(DSG2):c.690+14T>C
|
rs2144318223
|
|
|
NM_001943.5(DSG2):c.690+17T>C
|
|
|
|
NM_001943.5(DSG2):c.690+8A>G
|
rs755863179
|
|
|
NM_001943.5(DSG2):c.691-12A>G
|
|
|
|
NM_001943.5(DSG2):c.691-1G>A
|
rs1555671441
|
|
|
NM_001943.5(DSG2):c.691-5T>A
|
|
|
|
NM_001943.5(DSG2):c.691-7_691-3del
|
rs757242261
|
|
|
NM_001943.5(DSG2):c.691-8C>T
|
rs2144321935
|
|
|
NM_001943.5(DSG2):c.696C>T (p.His232=)
|
|
|
|
NM_001943.5(DSG2):c.697A>G (p.Ser233Gly)
|
rs2073148481
|
|
|
NM_001943.5(DSG2):c.719A>C (p.Glu240Ala)
|
rs2073148766
|
|
|
NM_001943.5(DSG2):c.721G>C (p.Ala241Pro)
|
|
|
|
NM_001943.5(DSG2):c.734A>G (p.Asn245Ser)
|
rs1568106586
|
|
|
NM_001943.5(DSG2):c.745dup (p.Thr249fs)
|
rs2073148989
|
|
|
NM_001943.5(DSG2):c.748G>C (p.Asp250His)
|
|
|
|
NM_001943.5(DSG2):c.748G>T (p.Asp250Tyr)
|
rs1459918321
|
|
|
NM_001943.5(DSG2):c.756T>G (p.Pro252=)
|
|
|
|
NM_001943.5(DSG2):c.759A>G (p.Val253=)
|
|
|
|
NM_001943.5(DSG2):c.769C>T (p.Gln257Ter)
|
rs794728083
|
|
|
NM_001943.5(DSG2):c.76T>C (p.Leu26=)
|
|
|
|
NM_001943.5(DSG2):c.772G>T (p.Val258Phe)
|
rs1060502865
|
|
|
NM_001943.5(DSG2):c.784A>G (p.Ile262Val)
|
rs2073149359
|
|
|
NM_001943.5(DSG2):c.78A>G (p.Leu26=)
|
rs2073105327
|
|
|
NM_001943.5(DSG2):c.794T>A (p.Val265Asp)
|
|
|
|
NM_001943.5(DSG2):c.797A>G (p.Asn266Ser)
|
rs121913011
|
|
|
NM_001943.5(DSG2):c.7C>G (p.Arg3Gly)
|
|
|
|
NM_001943.5(DSG2):c.800A>G (p.Asp267Gly)
|
|
|
|
NM_001943.5(DSG2):c.803A>T (p.Asn268Ile)
|
rs942590973
|
|
|
NM_001943.5(DSG2):c.803_810dup (p.Val271fs)
|
rs2073149649
|
|
|
NM_001943.5(DSG2):c.81+10C>G
|
|
|
|
NM_001943.5(DSG2):c.81+13A>G
|
|
|
|
NM_001943.5(DSG2):c.81+14G>A
|
|
|
|
NM_001943.5(DSG2):c.81+15G>A
|
|
|
|
NM_001943.5(DSG2):c.81+16_81+17delinsTG
|
rs2144311694
|
|
|
NM_001943.5(DSG2):c.81+1G>C
|
|
|
|
NM_001943.5(DSG2):c.81+5_81+6del
|
|
|
|
NM_001943.5(DSG2):c.81+8_81+9insGGC
|
|
|
|
NM_001943.5(DSG2):c.81+9A>G
|
|
|
|
NM_001943.5(DSG2):c.812_813insCAT (p.Val271_Val272insIle)
|
|
|
|
NM_001943.5(DSG2):c.813A>T (p.Val271=)
|
|
|
|
NM_001943.5(DSG2):c.816A>G (p.Val272=)
|
|
|
|
NM_001943.5(DSG2):c.818A>C (p.Glu273Ala)
|
|
|
|
NM_001943.5(DSG2):c.81G>A (p.Gln27=)
|
rs2144311636
|
|
|
NM_001943.5(DSG2):c.82-13T>G
|
|
|
|
NM_001943.5(DSG2):c.82-4A>G
|
rs1332379061
|
|
|
NM_001943.5(DSG2):c.82-8T>C
|
rs2144313844
|
|
|
NM_001943.5(DSG2):c.828+10A>C
|
rs886053712
|
|
|
NM_001943.5(DSG2):c.828+13C>A
|
rs180926981
|
|
|
NM_001943.5(DSG2):c.828+13C>T
|
rs180926981
|
|
|
NM_001943.5(DSG2):c.828+14T>C
|
|
|
|
NM_001943.5(DSG2):c.828+16C>G
|
|
|
|
NM_001943.5(DSG2):c.828+20_828+21del
|
|
|
|
NM_001943.5(DSG2):c.828+20_828+22del
|
rs1568106673
|
|
|
NM_001943.5(DSG2):c.828+7A>G
|
|
|
|
NM_001943.5(DSG2):c.828_828+2del
|
rs786204292
|
|
|
NM_001943.5(DSG2):c.829-18dup
|
|
|
|
NM_001943.5(DSG2):c.829-1G>A
|
|
|
|
NM_001943.5(DSG2):c.829-2A>T
|
rs2144322548
|
|
|
NM_001943.5(DSG2):c.829-3C>A
|
rs1295936995
|
|
|
NM_001943.5(DSG2):c.829-4G>A
|
rs376424003
|
|
|
NM_001943.5(DSG2):c.829_840del (p.Leu277_Met280del)
|
rs794728093
|
|
|
NM_001943.5(DSG2):c.834A>G (p.Glu278=)
|
rs2073150921
|
|
|
NM_001943.5(DSG2):c.838A>G (p.Met280Val)
|
|
|
|
NM_001943.5(DSG2):c.839T>C (p.Met280Thr)
|
rs1002445324
|
|
|
NM_001943.5(DSG2):c.844GAA[1] (p.Glu283del)
|
rs1365781004
|
|
|
NM_001943.5(DSG2):c.846A>G (p.Glu282=)
|
rs752126487
|
|
|
NM_001943.5(DSG2):c.853C>T (p.Gln285Ter)
|
|
|
|
NM_001943.5(DSG2):c.856G>A (p.Val286Ile)
|
rs1568106749
|
|
|
NM_001943.5(DSG2):c.861_862delinsTC (p.Val288Leu)
|
rs2144322697
|
|
|
NM_001943.5(DSG2):c.863T>G (p.Val288Gly)
|
|
|
|
NM_001943.5(DSG2):c.864A>T (p.Val288=)
|
|
|
|
NM_001943.5(DSG2):c.869T>G (p.Val290Gly)
|
rs2144322727
|
|
|
NM_001943.5(DSG2):c.871dup (p.Thr291fs)
|
rs759944835
|
|
|
NM_001943.5(DSG2):c.873G>C (p.Thr291=)
|
|
|
|
NM_001943.5(DSG2):c.875G>A (p.Arg292His)
|
rs185821167
|
|
|
NM_001943.5(DSG2):c.875G>T (p.Arg292Leu)
|
rs185821167
|
|
|
NM_001943.5(DSG2):c.876_877inv (p.Ile293Val)
|
|
|
|
NM_001943.5(DSG2):c.877A>G (p.Ile293Val)
|
rs2230234
|
|
|
NM_001943.5(DSG2):c.877A>T (p.Ile293Leu)
|
rs2230234
|
|
|
NM_001943.5(DSG2):c.87A>T (p.Leu29Phe)
|
|
|
|
NM_001943.5(DSG2):c.881A>T (p.Lys294Ile)
|
rs1168649465
|
|
|
NM_001943.5(DSG2):c.882dup (p.Val295fs)
|
rs1187924885
|
|
|
NM_001943.5(DSG2):c.885G>A (p.Val295=)
|
rs534674777
|
|
|
NM_001943.5(DSG2):c.885G>T (p.Val295=)
|
|
|
|
NM_001943.5(DSG2):c.888C>T (p.Phe296=)
|
rs975297970
|
|
|
NM_001943.5(DSG2):c.890A>T (p.Asp297Val)
|
rs1418275138
|
|
|
NM_001943.5(DSG2):c.891T>C (p.Asp297=)
|
rs1412667083
|
|
|
NM_001943.5(DSG2):c.893_898del (p.Ala298_Asp299del)
|
rs1331118515
|
|
|
NM_001943.5(DSG2):c.904G>A (p.Gly302Ser)
|
rs1402723514
|
|
|
NM_001943.5(DSG2):c.905G>A (p.Gly302Asp)
|
rs1338174918
|
|
|
NM_001943.5(DSG2):c.909del (p.Asp304fs)
|
rs2144322985
|
|
|
NM_001943.5(DSG2):c.90C>T (p.Ser30=)
|
rs2144313897
|
|
|
NM_001943.5(DSG2):c.912_941delinsAATTGGCTGGCAAATTTTACATTTGAAATGAAGGAGGTTATTTCCTTCATTTGAATTGGCTGGCAAATTTTACATTTGAAATGA (p.Asp304_Ser314delinsGluIleGlyTrpGlnIleLeuHisLeuLysTer)
|
|
|
|
NM_001943.5(DSG2):c.914A>G (p.Asn305Ser)
|
rs2073152820
|
|
|
NM_001943.5(DSG2):c.915T>C (p.Asn305=)
|
rs1484918582
|
|
|
NM_001943.5(DSG2):c.916T>C (p.Trp306Arg)
|
|
|
|
NM_001943.5(DSG2):c.917G>A (p.Trp306Ter)
|
rs2144323019
|
|
|
NM_001943.5(DSG2):c.918G>A (p.Trp306Ter)
|
rs121913007
|
|
|
NM_001943.5(DSG2):c.91del (p.Thr31fs)
|
rs758282201
|
|
|
NM_001943.5(DSG2):c.920T>G (p.Leu307Arg)
|
|
|
|
NM_001943.5(DSG2):c.934T>C (p.Phe312Leu)
|
|
|
|
NM_001943.5(DSG2):c.939A>G (p.Ala313=)
|
|
|
|
NM_001943.5(DSG2):c.941C>A (p.Ser314Ter)
|
rs397516712
|
|
|
NM_001943.5(DSG2):c.955G>A (p.Gly319Ser)
|
rs1064796086
|
|
|
NM_001943.5(DSG2):c.95G>A (p.Arg32Lys)
|
|
|
|
NM_001943.5(DSG2):c.967A>G (p.Ile323Val)
|
rs886039096
|
|
|
NM_001943.5(DSG2):c.968T>C (p.Ile323Thr)
|
|
|
|
NM_001943.5(DSG2):c.968T>G (p.Ile323Arg)
|
rs370140174
|
|
|
NM_001943.5(DSG2):c.972A>C (p.Glu324Asp)
|
|
|
|
NM_001943.5(DSG2):c.983A>C (p.Gln328Pro)
|
|
|
|
NM_001943.5(DSG2):c.983A>G (p.Gln328Arg)
|
|
|
|
NM_001943.5(DSG2):c.988A>G (p.Asn330Asp)
|
rs1410479706
|
|
|
NM_001943.5(DSG2):c.98A>C (p.Asn33Thr)
|
rs727505205
|
|
|
NM_001943.5(DSG2):c.994G>A (p.Gly332Arg)
|
|
|
|
NM_002230.3(JUP):c.910_912dup (p.Leu304_Ile305insLeu)
|
rs1567812900
|
|
|
NM_002230.4(JUP):c.*1014C>T
|
rs1292357653
|
|
|
NM_002230.4(JUP):c.*1026G>A
|
rs187950810
|
|
|
NM_002230.4(JUP):c.*18C>T
|
rs200222165
|
|
|
NM_002230.4(JUP):c.*409C>G
|
rs1025065671
|
|
|
NM_002230.4(JUP):c.*497A>T
|
rs1913504384
|
|
|
NM_002230.4(JUP):c.*593C>T
|
rs1913479153
|
|
|
NM_002230.4(JUP):c.1000G>A (p.Val334Met)
|
|
|
|
NM_002230.4(JUP):c.1013T>C (p.Leu338Pro)
|
rs2143598327
|
|
|
NM_002230.4(JUP):c.1022G>A (p.Cys341Tyr)
|
rs1567812537
|
|
|
NM_002230.4(JUP):c.1028G>A (p.Ser343Asn)
|
rs1597808088
|
|
|
NM_002230.4(JUP):c.1029C>T (p.Ser343=)
|
rs2143597754
|
|
|
NM_002230.4(JUP):c.1035G>A (p.Lys345=)
|
|
|
|
NM_002230.4(JUP):c.1036C>T (p.Pro346Ser)
|
|
|
|
NM_002230.4(JUP):c.1040C>T (p.Ala347Val)
|
rs1915466603
|
|
|
NM_002230.4(JUP):c.1046T>C (p.Val349Ala)
|
|
|
|
NM_002230.4(JUP):c.1049A>G (p.Glu350Gly)
|
rs1915464336
|
|
|
NM_002230.4(JUP):c.1054+14C>T
|
|
|
|
NM_002230.4(JUP):c.1054+15C>T
|
|
|
|
NM_002230.4(JUP):c.1054+18G>A
|
rs782112631
|
|
|
NM_002230.4(JUP):c.1054+3G>A
|
|
|
|
NM_002230.4(JUP):c.1054+8T>C
|
rs2143596868
|
|
|
NM_002230.4(JUP):c.1055-11C>A
|
|
|
|
NM_002230.4(JUP):c.1055-11C>G
|
|
|
|
NM_002230.4(JUP):c.1055-16C>T
|
|
|
|
NM_002230.4(JUP):c.1055-3C>G
|
rs1597807473
|
|
|
NM_002230.4(JUP):c.1055-4C>A
|
|
|
|
NM_002230.4(JUP):c.1057G>A (p.Gly353Arg)
|
|
|
|
NM_002230.4(JUP):c.1068C>G (p.Ala356=)
|
rs1915436816
|
|
|
NM_002230.4(JUP):c.1072G>C (p.Gly358Arg)
|
rs1915435636
|
|
|
NM_002230.4(JUP):c.1082T>C (p.Leu361Pro)
|
rs2143593694
|
|
|
NM_002230.4(JUP):c.1085C>T (p.Thr362Ile)
|
rs1915432778
|
|
|
NM_002230.4(JUP):c.1088G>T (p.Ser363Ile)
|
rs2143593479
|
|
|
NM_002230.4(JUP):c.1092C>T (p.Asn364=)
|
rs1555603222
|
|
|
NM_002230.4(JUP):c.1096C>T (p.Pro366Ser)
|
|
|
|
NM_002230.4(JUP):c.1097C>T (p.Pro366Leu)
|
|
|
|
NM_002230.4(JUP):c.1099C>T (p.Arg367Cys)
|
|
|
|
NM_002230.4(JUP):c.1100G>A (p.Arg367His)
|
rs782067441
|
|
|
NM_002230.4(JUP):c.1105G>T (p.Val369Leu)
|
rs1915425116
|
|
|
NM_002230.4(JUP):c.1107G>A (p.Val369=)
|
|
|
|
NM_002230.4(JUP):c.111C>T (p.Val37=)
|
rs2143735905
|
|
|
NM_002230.4(JUP):c.1121G>A (p.Trp374Ter)
|
|
|
|
NM_002230.4(JUP):c.1129C>T (p.Arg377Cys)
|
rs368564000
|
|
|
NM_002230.4(JUP):c.1139C>T (p.Ser380Leu)
|
|
|
|
NM_002230.4(JUP):c.113GCA[1] (p.Ser39del)
|
rs113994176
|
|
|
NM_002230.4(JUP):c.113GCA[3] (p.Ser39dup)
|
rs113994176
|
|
|
NM_002230.4(JUP):c.1146G>A (p.Val382=)
|
rs782620083
|
|
|
NM_002230.4(JUP):c.114C>A (p.Ser38Arg)
|
rs782391511
|
|
|
NM_002230.4(JUP):c.1158+11T>C
|
|
|
|
NM_002230.4(JUP):c.1158+14C>T
|
rs2143591414
|
|
|
NM_002230.4(JUP):c.1158+16G>T
|
|
|
|
NM_002230.4(JUP):c.1158+17G>A
|
|
|
|
NM_002230.4(JUP):c.1158+1G>T
|
rs2143591648
|
|
|
NM_002230.4(JUP):c.1158+20C>G
|
|
|
|
NM_002230.4(JUP):c.1159-11T>C
|
rs1555602490
|
|
|
NM_002230.4(JUP):c.1159-13C>T
|
rs201627219
|
|
|
NM_002230.4(JUP):c.1159-7C>T
|
rs2143566266
|
|
|
NM_002230.4(JUP):c.1159-8C>A
|
|
|
|
NM_002230.4(JUP):c.1159-8C>T
|
rs1457861232
|
|
|
NM_002230.4(JUP):c.1163G>A (p.Gly388Asp)
|
rs1555602470
|
|
|
NM_002230.4(JUP):c.1170G>T (p.Glu390Asp)
|
|
|
|
NM_002230.4(JUP):c.1173T>C (p.Ser391=)
|
|
|
|
NM_002230.4(JUP):c.1179G>A (p.Leu393=)
|
|
|
|
NM_002230.4(JUP):c.1193A>G (p.Asn398Ser)
|
|
|
|
NM_002230.4(JUP):c.1205_1206del (p.Val402fs)
|
|
|
|
NM_002230.4(JUP):c.1207G>T (p.Asp403Tyr)
|
|
|
|
NM_002230.4(JUP):c.1212C>A (p.Asp404Glu)
|
rs1482026041
|
|
|
NM_002230.4(JUP):c.1212C>T (p.Asp404=)
|
rs1482026041
|
|
|
NM_002230.4(JUP):c.1215C>A (p.Val405=)
|
|
|
|
NM_002230.4(JUP):c.1218C>A (p.Asn406Lys)
|
|
|
|
NM_002230.4(JUP):c.121G>A (p.Gly41Ser)
|
|
|
|
NM_002230.4(JUP):c.122G>A (p.Gly41Asp)
|
|
|
|
NM_002230.4(JUP):c.1232C>T (p.Ala411Val)
|
rs1060502680
|
|
|
NM_002230.4(JUP):c.1236G>C (p.Thr412=)
|
|
|
|
NM_002230.4(JUP):c.1241C>T (p.Thr414Ile)
|
|
|
|
NM_002230.4(JUP):c.1247C>T (p.Ser416Phe)
|
|
|
|
NM_002230.4(JUP):c.1258_1261del (p.Cys420fs)
|
|
|
|
NM_002230.4(JUP):c.1268G>A (p.Ser423Asn)
|
|
|
|
NM_002230.4(JUP):c.1269C>T (p.Ser423=)
|
|
|
|
NM_002230.4(JUP):c.127A>G (p.Met43Val)
|
rs1916678676
|
|
|
NM_002230.4(JUP):c.1281G>A (p.Thr427=)
|
rs373544304
|
|
|
NM_002230.4(JUP):c.1281G>T (p.Thr427=)
|
rs373544304
|
|
|
NM_002230.4(JUP):c.1283T>C (p.Leu428Pro)
|
|
|
|
NM_002230.4(JUP):c.129G>A (p.Met43Ile)
|
rs1555606996
|
|
|
NM_002230.4(JUP):c.1301G>A (p.Gly434Asp)
|
|
|
|
NM_002230.4(JUP):c.1306G>A (p.Glu436Lys)
|
rs1915172914
|
|
|
NM_002230.4(JUP):c.1312C>G (p.Leu438Val)
|
|
|
|
NM_002230.4(JUP):c.1318C>T (p.His440Tyr)
|
rs1555602228
|
|
|
NM_002230.4(JUP):c.1320T>A (p.His440Gln)
|
|
|
|
NM_002230.4(JUP):c.1322C>A (p.Ala441Asp)
|
|
|
|
NM_002230.4(JUP):c.1326C>T (p.Ile442=)
|
rs2143562604
|
|
|
NM_002230.4(JUP):c.132G>A (p.Glu44=)
|
|
|
|
NM_002230.4(JUP):c.1339G>A (p.Asp447Asn)
|
rs1915164389
|
|
|
NM_002230.4(JUP):c.133G>A (p.Glu45Lys)
|
|
|
|
NM_002230.4(JUP):c.1346A>G (p.Asp449Gly)
|
|
|
|
NM_002230.4(JUP):c.1346A>T (p.Asp449Val)
|
rs1174382765
|
|
|
NM_002230.4(JUP):c.1348G>A (p.Asp450Asn)
|
|
|
|
NM_002230.4(JUP):c.1351A>G (p.Ile451Val)
|
|
|
|
NM_002230.4(JUP):c.135G>C (p.Glu45Asp)
|
rs2143735253
|
|
|
NM_002230.4(JUP):c.1360C>T (p.Pro454Ser)
|
|
|
|
NM_002230.4(JUP):c.136G>T (p.Asp46Tyr)
|
|
|
|
NM_002230.4(JUP):c.1384C>T (p.Leu462Phe)
|
|
|
|
NM_002230.4(JUP):c.1386C>T (p.Leu462=)
|
|
|
|
NM_002230.4(JUP):c.1389T>C (p.Thr463=)
|
|
|
|
NM_002230.4(JUP):c.1393C>T (p.Arg465Cys)
|
|
|
|
NM_002230.4(JUP):c.1395C>T (p.Arg465=)
|
|
|
|
NM_002230.4(JUP):c.1398C>A (p.His466Gln)
|
rs1555602097
|
|
|
NM_002230.4(JUP):c.1408G>A (p.Glu470Lys)
|
rs1555602080
|
|
|
NM_002230.4(JUP):c.1410G>C (p.Glu470Asp)
|
rs2143559758
|
|
|
NM_002230.4(JUP):c.1429C>T (p.Arg477Cys)
|
|
|
|
NM_002230.4(JUP):c.142G>C (p.Ala48Pro)
|
|
|
|
NM_002230.4(JUP):c.1431T>A (p.Arg477=)
|
|
|
|
NM_002230.4(JUP):c.1432C>T (p.Leu478Phe)
|
|
|
|
NM_002230.4(JUP):c.1434C>A (p.Leu478=)
|
rs1597801519
|
|
|
NM_002230.4(JUP):c.143C>A (p.Ala48Asp)
|
rs2143735114
|
|
|
NM_002230.4(JUP):c.1440T>C (p.Tyr480=)
|
|
|
|
NM_002230.4(JUP):c.1442G>T (p.Gly481Val)
|
|
|
|
NM_002230.4(JUP):c.1446C>T (p.Ile482=)
|
rs1456308434
|
|
|
NM_002230.4(JUP):c.1455C>G (p.Ile485Met)
|
|
|
|
NM_002230.4(JUP):c.1455_1462del (p.Val486fs)
|
rs1597801392
|
|
|
NM_002230.4(JUP):c.1469A>G (p.Asn490Ser)
|
|
|
|
NM_002230.4(JUP):c.1470C>G (p.Asn490Lys)
|
|
|
|
NM_002230.4(JUP):c.147C>T (p.Cys49=)
|
rs200001999
|
|
|
NM_002230.4(JUP):c.1481A>G (p.Gln494Arg)
|
rs2143558258
|
|
|
NM_002230.4(JUP):c.1482G>C (p.Gln494His)
|
rs1367975995
|
|
|
NM_002230.4(JUP):c.1488A>G (p.Pro496=)
|
rs1285508373
|
|
|
NM_002230.4(JUP):c.1495A>C (p.Lys499Gln)
|
rs782395614
|
|
|
NM_002230.4(JUP):c.1497+16G>A
|
|
|
|
NM_002230.4(JUP):c.1497+16G>C
|
|
|
|
NM_002230.4(JUP):c.1498-10T>C
|
|
|
|
NM_002230.4(JUP):c.1498-15C>A
|
|
|
|
NM_002230.4(JUP):c.1498-16C>T
|
|
|
|
NM_002230.4(JUP):c.1498-20A>G
|
|
|
|
NM_002230.4(JUP):c.1498-6del
|
rs1555599887
|
|
|
NM_002230.4(JUP):c.1509C>T (p.Gly503=)
|
rs782445315
|
|
|
NM_002230.4(JUP):c.1512G>T (p.Leu504Phe)
|
|
|
|
NM_002230.4(JUP):c.1518G>A (p.Arg506=)
|
|
|
|
NM_002230.4(JUP):c.1525G>T (p.Ala509Ser)
|
rs1555599847
|
|
|
NM_002230.4(JUP):c.1527C>T (p.Ala509=)
|
rs2143460490
|
|
|
NM_002230.4(JUP):c.1528C>T (p.Leu510=)
|
rs782136684
|
|
|
NM_002230.4(JUP):c.1534C>G (p.Pro512Ala)
|
|
|
|
NM_002230.4(JUP):c.1536A>G (p.Pro512=)
|
|
|
|
NM_002230.4(JUP):c.1544A>G (p.His515Arg)
|
rs2143460147
|
|
|
NM_002230.4(JUP):c.1546G>A (p.Ala516Thr)
|
rs2143460021
|
|
|
NM_002230.4(JUP):c.1547C>A (p.Ala516Asp)
|
rs1255846046
|
|
|
NM_002230.4(JUP):c.1548C>G (p.Ala516=)
|
|
|
|
NM_002230.4(JUP):c.1549C>T (p.Pro517Ser)
|
|
|
|
NM_002230.4(JUP):c.154C>A (p.Gln52Lys)
|
|
|
|
NM_002230.4(JUP):c.1551G>T (p.Pro517=)
|
|
|
|
NM_002230.4(JUP):c.1556A>T (p.Gln519Leu)
|
rs1060502677
|
|
|
NM_002230.4(JUP):c.1563_1565dup (p.Ala522_Val523insAla)
|
|
|
|
NM_002230.4(JUP):c.1565C>A (p.Ala522Glu)
|
rs1060502679
|
|
|
NM_002230.4(JUP):c.156G>A (p.Gln52=)
|
rs1916673290
|
|
|
NM_002230.4(JUP):c.1573C>T (p.Pro525Ser)
|
rs1914314355
|
|
|
NM_002230.4(JUP):c.1574C>T (p.Pro525Leu)
|
|
|
|
NM_002230.4(JUP):c.1576C>A (p.Arg526Ser)
|
rs782309611
|
|
|
NM_002230.4(JUP):c.1581C>T (p.Leu527=)
|
rs1555599788
|
|
|
NM_002230.4(JUP):c.1587A>G (p.Gln529=)
|
rs886052919
|
|
|
NM_002230.4(JUP):c.1588C>T (p.Leu530=)
|
|
|
|
NM_002230.4(JUP):c.1597A>G (p.Lys533Glu)
|
|
|
|
NM_002230.4(JUP):c.1605C>T (p.His535=)
|
|
|
|
NM_002230.4(JUP):c.1615C>T (p.Gln539Ter)
|
rs797046139
|
|
|
NM_002230.4(JUP):c.1617G>A (p.Gln539=)
|
rs1012247750
|
|
|
NM_002230.4(JUP):c.1619G>A (p.Arg540His)
|
rs376881608
|
|
|
NM_002230.4(JUP):c.1622A>T (p.His541Leu)
|
rs782449369
|
|
|
NM_002230.4(JUP):c.1625T>C (p.Val542Ala)
|
rs2143457194
|
|
|
NM_002230.4(JUP):c.162G>T (p.Thr54=)
|
|
|
|
NM_002230.4(JUP):c.1634G>A (p.Gly545Asp)
|
|
|
|
NM_002230.4(JUP):c.1635C>T (p.Gly545=)
|
|
|
|
NM_002230.4(JUP):c.1638A>G (p.Thr546=)
|
|
|
|
NM_002230.4(JUP):c.1639C>T (p.Gln547Ter)
|
rs2143456924
|
|
|
NM_002230.4(JUP):c.1641G>A (p.Gln547=)
|
rs1555599694
|
|
|
NM_002230.4(JUP):c.1642C>G (p.Gln548Glu)
|
|
|
|
NM_002230.4(JUP):c.1646C>A (p.Pro549His)
|
rs1555599683
|
|
|
NM_002230.4(JUP):c.1653+12G>A
|
rs1049591642
|
|
|
NM_002230.4(JUP):c.1653+16G>A
|
|
|
|
NM_002230.4(JUP):c.1653+4T>A
|
|
|
|
NM_002230.4(JUP):c.1653+5G>C
|
|
|
|
NM_002230.4(JUP):c.1653+7G>A
|
rs1555599671
|
|
|
NM_002230.4(JUP):c.1653+9G>A
|
|
|
|
NM_002230.4(JUP):c.1653G>T (p.Thr551=)
|
|
|
|
NM_002230.4(JUP):c.1654-2A>G
|
|
|
|
NM_002230.4(JUP):c.1654-7C>A
|
rs1395283149
|
|
|
NM_002230.4(JUP):c.1654G>A (p.Asp552Asn)
|
rs2143451579
|
|
|
NM_002230.4(JUP):c.1658G>C (p.Gly553Ala)
|
rs782759301
|
|
|
NM_002230.4(JUP):c.1658G>T (p.Gly553Val)
|
|
|
|
NM_002230.4(JUP):c.1671G>A (p.Glu557=)
|
|
|
|
NM_002230.4(JUP):c.1688G>A (p.Cys563Tyr)
|
rs142006878
|
|
|
NM_002230.4(JUP):c.1692C>G (p.Thr564=)
|
|
|
|
NM_002230.4(JUP):c.1694G>C (p.Gly565Ala)
|
|
|
|
NM_002230.4(JUP):c.1695A>G (p.Gly565=)
|
|
|
|
NM_002230.4(JUP):c.1702C>T (p.His568Tyr)
|
rs794729048
|
|
|
NM_002230.4(JUP):c.1705A>C (p.Ile569Leu)
|
rs370101446
|
|
|
NM_002230.4(JUP):c.1705A>T (p.Ile569Phe)
|
rs370101446
|
|
|
NM_002230.4(JUP):c.1711G>A (p.Ala571Thr)
|
rs397517297
|
|
|
NM_002230.4(JUP):c.1711G>T (p.Ala571Ser)
|
rs397517297
|
|
|
NM_002230.4(JUP):c.1713C>A (p.Ala571=)
|
|
|
|
NM_002230.4(JUP):c.1713C>T (p.Ala571=)
|
|
|
|
NM_002230.4(JUP):c.1715G>T (p.Arg572Leu)
|
rs397517298
|
|
|
NM_002230.4(JUP):c.1717G>T (p.Asp573Tyr)
|
|
|
|
NM_002230.4(JUP):c.1718A>T (p.Asp573Val)
|
rs886052918
|
|
|
NM_002230.4(JUP):c.1722C>A (p.Pro574=)
|
rs1016855983
|
|
|
NM_002230.4(JUP):c.1722C>G (p.Pro574=)
|
rs1016855983
|
|
|
NM_002230.4(JUP):c.1722C>T (p.Pro574=)
|
rs1016855983
|
|
|
NM_002230.4(JUP):c.1725G>T (p.Met575Ile)
|
|
|
|
NM_002230.4(JUP):c.1738A>T (p.Ile580Phe)
|
|
|
|
NM_002230.4(JUP):c.1743C>T (p.Phe581=)
|
|
|
|
NM_002230.4(JUP):c.1745G>A (p.Arg582Gln)
|
rs781828085
|
|
|
NM_002230.4(JUP):c.1746G>A (p.Arg582=)
|
|
|
|
NM_002230.4(JUP):c.1749C>T (p.Leu583=)
|
|
|
|
NM_002230.4(JUP):c.174C>T (p.Thr58=)
|
|
|
|
NM_002230.4(JUP):c.1759C>T (p.Pro587Ser)
|
|
|
|
NM_002230.4(JUP):c.1762C>G (p.Leu588Val)
|
|
|
|
NM_002230.4(JUP):c.1764G>T (p.Leu588=)
|
rs541032494
|
|
|
NM_002230.4(JUP):c.1773+19G>A
|
|
|
|
NM_002230.4(JUP):c.1773+3G>A
|
rs1460748612
|
|
|
NM_002230.4(JUP):c.1774-15G>A
|
|
|
|
NM_002230.4(JUP):c.1774-17A>C
|
|
|
|
NM_002230.4(JUP):c.1774-4C>T
|
|
|
|
NM_002230.4(JUP):c.1774-5C>G
|
rs1555599040
|
|
|
NM_002230.4(JUP):c.1774C>G (p.Leu592Val)
|
|
|
|
NM_002230.4(JUP):c.1777C>T (p.Leu593=)
|
|
|
|
NM_002230.4(JUP):c.1778T>A (p.Leu593Gln)
|
|
|
|
NM_002230.4(JUP):c.1779G>A (p.Leu593=)
|
|
|
|
NM_002230.4(JUP):c.177C>G (p.Thr59=)
|
|
|
|
NM_002230.4(JUP):c.177C>T (p.Thr59=)
|
|
|
|
NM_002230.4(JUP):c.1785G>C (p.Ser595=)
|
|
|
|
NM_002230.4(JUP):c.1796A>G (p.Asn599Ser)
|
rs1257379135
|
|
|
NM_002230.4(JUP):c.1807G>A (p.Val603Met)
|
rs200327969
|
|
|
NM_002230.4(JUP):c.1807del (p.Val603fs)
|
rs1597782553
|
|
|
NM_002230.4(JUP):c.1815C>G (p.Ala605=)
|
|
|
|
NM_002230.4(JUP):c.1816G>A (p.Gly606Arg)
|
|
|
|
NM_002230.4(JUP):c.1816G>C (p.Gly606Arg)
|
rs1371912642
|
|
|
NM_002230.4(JUP):c.1824G>A (p.Leu608=)
|
rs376043057
|
|
|
NM_002230.4(JUP):c.1825T>C (p.Cys609Arg)
|
|
|
|
NM_002230.4(JUP):c.1830G>A (p.Glu610=)
|
|
|
|
NM_002230.4(JUP):c.1835C>G (p.Ala612Gly)
|
|
|
|
NM_002230.4(JUP):c.1842C>G (p.Asp614Glu)
|
rs2143427860
|
|
|
NM_002230.4(JUP):c.1849G>A (p.Ala617Thr)
|
rs397517299
|
|
|
NM_002230.4(JUP):c.1854C>G (p.Ala618=)
|
rs782176670
|
|
|
NM_002230.4(JUP):c.185C>A (p.Thr62Asn)
|
rs1555606943
|
|
|
NM_002230.4(JUP):c.1870G>C (p.Glu624Gln)
|
rs2143426682
|
|
|
NM_002230.4(JUP):c.1870G>T (p.Glu624Ter)
|
rs2143426682
|
|
|
NM_002230.4(JUP):c.1871A>G (p.Glu624Gly)
|
rs1914071758
|
|
|
NM_002230.4(JUP):c.1876G>C (p.Ala626Pro)
|
rs782547688
|
|
|
NM_002230.4(JUP):c.1876dup (p.Ala626fs)
|
|
|
|
NM_002230.4(JUP):c.1878C>T (p.Ala626=)
|
|
|
|
NM_002230.4(JUP):c.188A>G (p.Gln63Arg)
|
|
|
|
NM_002230.4(JUP):c.188del (p.Gln63fs)
|
rs1555606936
|
|
|
NM_002230.4(JUP):c.1890C>T (p.Leu630=)
|
|
|
|
NM_002230.4(JUP):c.1895A>G (p.Glu632Gly)
|
|
|
|
NM_002230.4(JUP):c.1910G>T (p.Arg637Leu)
|
|
|
|
NM_002230.4(JUP):c.1913A>C (p.Asn638Thr)
|
rs561484928
|
|
|
NM_002230.4(JUP):c.1914C>G (p.Asn638Lys)
|
|
|
|
NM_002230.4(JUP):c.1924+11G>A
|
|
|
|
NM_002230.4(JUP):c.1924+16G>T
|
|
|
|
NM_002230.4(JUP):c.1924+1G>A
|
rs1597781765
|
|
|
NM_002230.4(JUP):c.1924+7T>C
|
|
|
|
NM_002230.4(JUP):c.1924+8G>T
|
rs730880115
|
|
|
NM_002230.4(JUP):c.1925-17C>T
|
rs1555598762
|
|
|
NM_002230.4(JUP):c.1925-8C>T
|
rs2143420758
|
|
|
NM_002230.4(JUP):c.1925-9T>A
|
rs2143420829
|
|
|
NM_002230.4(JUP):c.1927A>G (p.Thr643Ala)
|
rs2143420466
|
|
|
NM_002230.4(JUP):c.1927A>T (p.Thr643Ser)
|
rs2143420466
|
|
|
NM_002230.4(JUP):c.1929C>G (p.Thr643=)
|
rs1555598746
|
|
|
NM_002230.4(JUP):c.1934C>T (p.Ala645Val)
|
|
|
|
NM_002230.4(JUP):c.1938T>C (p.Ala646=)
|
rs2143420014
|
|
|
NM_002230.4(JUP):c.193G>A (p.Val65Met)
|
rs727503100
|
|
|
NM_002230.4(JUP):c.193G>T (p.Val65Leu)
|
rs727503100
|
|
|
NM_002230.4(JUP):c.1944C>G (p.Val648=)
|
|
|
|
NM_002230.4(JUP):c.1948T>C (p.Phe650Leu)
|
rs1208908708
|
|
|
NM_002230.4(JUP):c.1951C>T (p.Arg651Cys)
|
|
|
|
NM_002230.4(JUP):c.1954A>G (p.Ile652Val)
|
rs2143419427
|
|
|
NM_002230.4(JUP):c.1960G>A (p.Glu654Lys)
|
|
|
|
NM_002230.4(JUP):c.196C>T (p.Pro66Ser)
|
|
|
|
NM_002230.4(JUP):c.1972C>T (p.Pro658Ser)
|
|
|
|
NM_002230.4(JUP):c.1974A>G (p.Pro658=)
|
rs782733127
|
|
|
NM_002230.4(JUP):c.1976A>G (p.Asp659Gly)
|
rs782124059
|
|
|
NM_002230.4(JUP):c.1979A>G (p.Tyr660Cys)
|
rs1555598672
|
|
|
NM_002230.4(JUP):c.197C>T (p.Pro66Leu)
|
|
|
|
NM_002230.4(JUP):c.1981C>T (p.Arg661Trp)
|
|
|
|
NM_002230.4(JUP):c.1987C>T (p.Arg663Cys)
|
|
|
|
NM_002230.4(JUP):c.1989C>G (p.Arg663=)
|
|
|
|
NM_002230.4(JUP):c.1990G>C (p.Val664Leu)
|
rs782695128
|
|
|
NM_002230.4(JUP):c.1994C>T (p.Ser665Phe)
|
rs1555598615
|
|
|
NM_002230.4(JUP):c.1996G>T (p.Val666Leu)
|
rs372369061
|
|
|
NM_002230.4(JUP):c.1_6del (p.Met1_Glu2del)
|
rs1916704473
|
|
|
NM_002230.4(JUP):c.2002C>T (p.Leu668Phe)
|
|
|
|
NM_002230.4(JUP):c.2016C>T (p.Leu672=)
|
|
|
|
NM_002230.4(JUP):c.2019C>T (p.Phe673=)
|
|
|
|
NM_002230.4(JUP):c.2022G>A (p.Lys674=)
|
rs1914011102
|
|
|
NM_002230.4(JUP):c.2028C>T (p.Asp676=)
|
|
|
|
NM_002230.4(JUP):c.2032G>A (p.Ala678Thr)
|
|
|
|
NM_002230.4(JUP):c.2035G>T (p.Ala679Ser)
|
|
|
|
NM_002230.4(JUP):c.2038_2039del (p.Trp680fs)
|
rs113994177
|
|
|
NM_002230.4(JUP):c.2039G>A (p.Trp680Ter)
|
rs2143416425
|
|
|
NM_002230.4(JUP):c.2045C>T (p.Ala682Val)
|
|
|
|
NM_002230.4(JUP):c.2046+10C>T
|
|
|
|
NM_002230.4(JUP):c.2046+15T>G
|
|
|
|
NM_002230.4(JUP):c.2046+19A>G
|
|
|
|
NM_002230.4(JUP):c.2046T>A (p.Ala682=)
|
rs782632671
|
|
|
NM_002230.4(JUP):c.2046T>C (p.Ala682=)
|
rs782632671
|
|
|
NM_002230.4(JUP):c.2047-11T>C
|
|
|
|
NM_002230.4(JUP):c.2047-14C>T
|
rs116666639
|
|
|
NM_002230.4(JUP):c.2047-17TC[3]
|
|
|
|
NM_002230.4(JUP):c.2055C>T (p.Ser685=)
|
rs1913708075
|
|
|
NM_002230.4(JUP):c.2073G>T (p.Glu691Asp)
|
rs1162219431
|
|
|
NM_002230.4(JUP):c.2078A>C (p.Tyr693Ser)
|
rs782475413
|
|
|
NM_002230.4(JUP):c.2079T>C (p.Tyr693=)
|
rs1555597744
|
|
|
NM_002230.4(JUP):c.208+11C>T
|
rs2143733221
|
|
|
NM_002230.4(JUP):c.208+14G>A
|
|
|
|
NM_002230.4(JUP):c.208+15G>A
|
|
|
|
NM_002230.4(JUP):c.2086+19C>T
|
|
|
|
NM_002230.4(JUP):c.2087-17C>T
|
|
|
|
NM_002230.4(JUP):c.2087-19C>A
|
rs1913635624
|
|
|
NM_002230.4(JUP):c.2087-8G>A
|
|
|
|
NM_002230.4(JUP):c.2087-9_2087-8delinsCT
|
rs2143375848
|
|
|
NM_002230.4(JUP):c.209-14C>A
|
|
|
|
NM_002230.4(JUP):c.209-18T>C
|
|
|
|
NM_002230.4(JUP):c.209-3del
|
rs560947371
|
|
|
NM_002230.4(JUP):c.209-4C>G
|
rs1555605999
|
|
|
NM_002230.4(JUP):c.209G>A (p.Gly70Asp)
|
|
|
|
NM_002230.4(JUP):c.2100C>G (p.Thr700=)
|
|
|
|
NM_002230.4(JUP):c.2108C>G (p.Pro703Arg)
|
rs1008749253
|
|
|
NM_002230.4(JUP):c.2110A>G (p.Met704Val)
|
|
|
|
NM_002230.4(JUP):c.2112G>A (p.Met704Ile)
|
rs1555597505
|
|
|
NM_002230.4(JUP):c.2114A>T (p.Tyr705Phe)
|
|
|
|
NM_002230.4(JUP):c.2118dup (p.Ser707fs)
|
rs1913623011
|
|
|
NM_002230.4(JUP):c.2129C>A (p.Pro710His)
|
|
|
|
NM_002230.4(JUP):c.2130C>A (p.Pro710=)
|
rs2143374346
|
|
|
NM_002230.4(JUP):c.2137C>A (p.Pro713Thr)
|
rs1555597496
|
|
|
NM_002230.4(JUP):c.2138C>T (p.Pro713Leu)
|
|
|
|
NM_002230.4(JUP):c.2139G>A (p.Pro713=)
|
rs782165431
|
|
|
NM_002230.4(JUP):c.2141T>C (p.Leu714Pro)
|
rs2143373822
|
|
|
NM_002230.4(JUP):c.2145G>A (p.Glu715=)
|
|
|
|
NM_002230.4(JUP):c.2152A>G (p.Met718Val)
|
|
|
|
NM_002230.4(JUP):c.2156A>G (p.Asp719Gly)
|
rs1283154446
|
|
|
NM_002230.4(JUP):c.2158A>G (p.Met720Val)
|
|
|
|
NM_002230.4(JUP):c.2162A>G (p.Asp721Gly)
|
|
|
|
NM_002230.4(JUP):c.2185T>A (p.Tyr729Asn)
|
rs1555597428
|
|
|
NM_002230.4(JUP):c.2188A>G (p.Ser730Gly)
|
rs1009184280
|
|
|
NM_002230.4(JUP):c.2190C>T (p.Ser730=)
|
|
|
|
NM_002230.4(JUP):c.2197C>T (p.Leu733Phe)
|
|
|
|
NM_002230.4(JUP):c.21G>A (p.Met7Ile)
|
rs782076076
|
|
|
NM_002230.4(JUP):c.2203C>T (p.Pro735Ser)
|
|
|
|
NM_002230.4(JUP):c.2204C>G (p.Pro735Arg)
|
rs782574785
|
|
|
NM_002230.4(JUP):c.2204C>T (p.Pro735Leu)
|
rs782574785
|
|
|
NM_002230.4(JUP):c.2208G>T (p.Pro736=)
|
rs371508357
|
|
|
NM_002230.4(JUP):c.2211C>T (p.Tyr737=)
|
rs2143370644
|
|
|
NM_002230.4(JUP):c.2214C>A (p.Pro738=)
|
rs781848758
|
|
|
NM_002230.4(JUP):c.2215A>G (p.Thr739Ala)
|
|
|
|
NM_002230.4(JUP):c.2219C>T (p.Ala740Val)
|
|
|
|
NM_002230.4(JUP):c.2220A>G (p.Ala740=)
|
rs142102308
|
|
|
NM_002230.4(JUP):c.2227A>G (p.Met743Val)
|
rs1913591137
|
|
|
NM_002230.4(JUP):c.222C>G (p.Tyr74Ter)
|
rs2143697976
|
|
|
NM_002230.4(JUP):c.2232G>A (p.Leu744=)
|
rs1913590161
|
|
|
NM_002230.4(JUP):c.2238G>A (p.Ter746=)
|
|
|
|
NM_002230.4(JUP):c.226A>G (p.Met76Val)
|
rs782730235
|
|
|
NM_002230.4(JUP):c.228G>A (p.Met76Ile)
|
rs202091411
|
|
|
NM_002230.4(JUP):c.230C>T (p.Ser77Phe)
|
|
|
|
NM_002230.4(JUP):c.232A>G (p.Thr78Ala)
|
rs1916308035
|
|
|
NM_002230.4(JUP):c.238G>A (p.Ala80Thr)
|
|
|
|
NM_002230.4(JUP):c.240C>T (p.Ala80=)
|
rs782139792
|
|
|
NM_002230.4(JUP):c.248A>G (p.Lys83Arg)
|
|
|
|
NM_002230.4(JUP):c.250C>G (p.Arg84Gly)
|
rs782306414
|
|
|
NM_002230.4(JUP):c.253G>C (p.Val85Leu)
|
rs782425952
|
|
|
NM_002230.4(JUP):c.25C>G (p.Gln9Glu)
|
|
|
|
NM_002230.4(JUP):c.262_263delinsAA (p.Ala88Asn)
|
rs1916297521
|
|
|
NM_002230.4(JUP):c.266T>A (p.Met89Lys)
|
|
|
|
NM_002230.4(JUP):c.269G>T (p.Cys90Phe)
|
|
|
|
NM_002230.4(JUP):c.272C>T (p.Pro91Leu)
|
rs1567819889
|
|
|
NM_002230.4(JUP):c.275G>A (p.Gly92Asp)
|
rs782737074
|
|
|
NM_002230.4(JUP):c.278T>G (p.Val93Gly)
|
rs1916292032
|
|
|
NM_002230.4(JUP):c.279G>A (p.Val93=)
|
rs1208581123
|
|
|
NM_002230.4(JUP):c.289G>C (p.Asp97His)
|
rs2143696352
|
|
|
NM_002230.4(JUP):c.292A>G (p.Ser98Gly)
|
|
|
|
NM_002230.4(JUP):c.293G>A (p.Ser98Asn)
|
rs1555605891
|
|
|
NM_002230.4(JUP):c.294C>T (p.Ser98=)
|
rs2143696152
|
|
|
NM_002230.4(JUP):c.298C>T (p.Leu100Phe)
|
rs1555605883
|
|
|
NM_002230.4(JUP):c.308C>G (p.Ala103Gly)
|
rs2143695852
|
|
|
NM_002230.4(JUP):c.311C>G (p.Thr104Ser)
|
|
|
|
NM_002230.4(JUP):c.315G>A (p.Gln105=)
|
rs375489362
|
|
|
NM_002230.4(JUP):c.315G>T (p.Gln105His)
|
|
|
|
NM_002230.4(JUP):c.318G>T (p.Val106=)
|
|
|
|
NM_002230.4(JUP):c.328G>A (p.Ala110Thr)
|
rs1916275770
|
|
|
NM_002230.4(JUP):c.337C>T (p.Leu113=)
|
|
|
|
NM_002230.4(JUP):c.33C>T (p.Ile11=)
|
rs2143738156
|
|
|
NM_002230.4(JUP):c.351C>G (p.Ala117=)
|
rs397517300
|
|
|
NM_002230.4(JUP):c.357G>T (p.Pro119=)
|
rs782579395
|
|
|
NM_002230.4(JUP):c.35A>G (p.Lys12Arg)
|
|
|
|
NM_002230.4(JUP):c.365T>C (p.Leu122Pro)
|
rs2143694308
|
|
|
NM_002230.4(JUP):c.372G>A (p.Lys124=)
|
|
|
|
NM_002230.4(JUP):c.375G>A (p.Ser125=)
|
rs111344340
|
|
|
NM_002230.4(JUP):c.375G>C (p.Ser125=)
|
rs111344340
|
|
|
NM_002230.4(JUP):c.379A>G (p.Ile127Val)
|
rs1205967739
|
|
|
NM_002230.4(JUP):c.381T>C (p.Ile127=)
|
|
|
|
NM_002230.4(JUP):c.389TCA[1] (p.Ile131del)
|
rs781818082
|
|
|
NM_002230.4(JUP):c.390C>G (p.Leu130=)
|
rs1555605734
|
|
|
NM_002230.4(JUP):c.396C>T (p.Asn132=)
|
rs782797349
|
|
|
NM_002230.4(JUP):c.401A>T (p.Gln134Leu)
|
|
|
|
NM_002230.4(JUP):c.403G>C (p.Asp135His)
|
rs1555605721
|
|
|
NM_002230.4(JUP):c.406G>C (p.Asp136His)
|
rs782392706
|
|
|
NM_002230.4(JUP):c.406G>T (p.Asp136Tyr)
|
rs782392706
|
|
|
NM_002230.4(JUP):c.408T>C (p.Asp136=)
|
|
|
|
NM_002230.4(JUP):c.433C>T (p.Pro145Ser)
|
|
|
|
NM_002230.4(JUP):c.450_451delinsCA (p.Leu151Ile)
|
rs2143691917
|
|
|
NM_002230.4(JUP):c.455A>G (p.Asn152Ser)
|
rs1555605656
|
|
|
NM_002230.4(JUP):c.456C>T (p.Asn152=)
|
rs781907298
|
|
|
NM_002230.4(JUP):c.457G>A (p.Asp153Asn)
|
|
|
|
NM_002230.4(JUP):c.468+18C>G
|
|
|
|
NM_002230.4(JUP):c.468+19T>G
|
rs2143690687
|
|
|
NM_002230.4(JUP):c.468+4T>C
|
rs782412433
|
|
|
NM_002230.4(JUP):c.468+7G>A
|
rs1916226554
|
|
|
NM_002230.4(JUP):c.468+8A>G
|
|
|
|
NM_002230.4(JUP):c.468G>A (p.Pro156=)
|
rs886037753
|
|
|
NM_002230.4(JUP):c.469-13dup
|
|
|
|
NM_002230.4(JUP):c.484G>A (p.Ala162Thr)
|
|
|
|
NM_002230.4(JUP):c.484G>T (p.Ala162Ser)
|
rs1555605437
|
|
|
NM_002230.4(JUP):c.486G>T (p.Ala162=)
|
|
|
|
NM_002230.4(JUP):c.487G>A (p.Ala163Thr)
|
rs782239920
|
|
|
NM_002230.4(JUP):c.49C>A (p.Gln17Lys)
|
|
|
|
NM_002230.4(JUP):c.500A>T (p.Asn167Ile)
|
rs2143684902
|
|
|
NM_002230.4(JUP):c.501C>T (p.Asn167=)
|
|
|
|
NM_002230.4(JUP):c.505C>G (p.Leu169Val)
|
rs1916178629
|
|
|
NM_002230.4(JUP):c.511AAG[1] (p.Lys172del)
|
rs2143684447
|
|
|
NM_002230.4(JUP):c.515A>G (p.Lys172Arg)
|
rs2143684482
|
|
|
NM_002230.4(JUP):c.519G>A (p.Glu173=)
|
rs1916176553
|
|
|
NM_002230.4(JUP):c.527G>T (p.Arg176Leu)
|
|
|
|
NM_002230.4(JUP):c.532_542del (p.Ala178fs)
|
rs2143683612
|
|
|
NM_002230.4(JUP):c.536T>A (p.Leu179Gln)
|
|
|
|
NM_002230.4(JUP):c.537G>A (p.Leu179=)
|
|
|
|
NM_002230.4(JUP):c.542G>T (p.Gly181Val)
|
rs1555605325
|
|
|
NM_002230.4(JUP):c.542_556dup (p.Gly181_Leu185dup)
|
rs1555605296
|
|
|
NM_002230.4(JUP):c.545C>A (p.Ser182Ter)
|
rs145592971
|
|
|
NM_002230.4(JUP):c.549C>G (p.Pro183=)
|
rs112787493
|
|
|
NM_002230.4(JUP):c.54G>C (p.Gln18His)
|
|
|
|
NM_002230.4(JUP):c.555G>A (p.Leu185=)
|
rs1555605299
|
|
|
NM_002230.4(JUP):c.559G>A (p.Ala187Thr)
|
|
|
|
NM_002230.4(JUP):c.55A>G (p.Thr19Ala)
|
|
|
|
NM_002230.4(JUP):c.563C>G (p.Ala188Gly)
|
|
|
|
NM_002230.4(JUP):c.564T>C (p.Ala188=)
|
|
|
|
NM_002230.4(JUP):c.565G>C (p.Val189Leu)
|
|
|
|
NM_002230.4(JUP):c.568G>C (p.Val190Leu)
|
rs370143312
|
|
|
NM_002230.4(JUP):c.568G>T (p.Val190Leu)
|
rs370143312
|
|
|
NM_002230.4(JUP):c.579G>A (p.Met193Ile)
|
rs1916162051
|
|
|
NM_002230.4(JUP):c.57A>G (p.Thr19=)
|
|
|
|
NM_002230.4(JUP):c.588C>T (p.Thr196=)
|
rs1597823864
|
|
|
NM_002230.4(JUP):c.593A>C (p.Asp198Ala)
|
rs1916158675
|
|
|
NM_002230.4(JUP):c.597G>A (p.Leu199=)
|
rs2143682126
|
|
|
NM_002230.4(JUP):c.599A>C (p.Asp200Ala)
|
|
|
|
NM_002230.4(JUP):c.599A>G (p.Asp200Gly)
|
|
|
|
NM_002230.4(JUP):c.602C>T (p.Thr201Ile)
|
rs1916155693
|
|
|
NM_002230.4(JUP):c.605C>T (p.Ala202Val)
|
rs782337928
|
|
|
NM_002230.4(JUP):c.622A>G (p.Ile208Val)
|
|
|
|
NM_002230.4(JUP):c.626T>A (p.Leu209Gln)
|
|
|
|
NM_002230.4(JUP):c.631A>C (p.Asn211His)
|
|
|
|
NM_002230.4(JUP):c.631_633del (p.Asn211del)
|
rs1916151526
|
|
|
NM_002230.4(JUP):c.634C>G (p.Leu212Val)
|
|
|
|
NM_002230.4(JUP):c.639C>T (p.Ser213=)
|
rs782266138
|
|
|
NM_002230.4(JUP):c.642C>T (p.His214=)
|
rs2143681143
|
|
|
NM_002230.4(JUP):c.643C>T (p.His215Tyr)
|
|
|
|
NM_002230.4(JUP):c.648G>A (p.Arg216=)
|
|
|
|
NM_002230.4(JUP):c.650A>G (p.Glu217Gly)
|
rs2143680736
|
|
|
NM_002230.4(JUP):c.652G>A (p.Gly218Arg)
|
rs1597823588
|
|
|
NM_002230.4(JUP):c.652G>C (p.Gly218Arg)
|
rs1597823588
|
|
|
NM_002230.4(JUP):c.654del (p.Leu219fs)
|
rs2143680611
|
|
|
NM_002230.4(JUP):c.655C>T (p.Leu219=)
|
|
|
|
NM_002230.4(JUP):c.657G>A (p.Leu219=)
|
|
|
|
NM_002230.4(JUP):c.660C>G (p.Leu220=)
|
|
|
|
NM_002230.4(JUP):c.664A>G (p.Ile222Val)
|
|
|
|
NM_002230.4(JUP):c.669C>T (p.Phe223=)
|
|
|
|
NM_002230.4(JUP):c.67G>A (p.Asp23Asn)
|
|
|
|
NM_002230.4(JUP):c.687del (p.Ala230fs)
|
|
|
|
NM_002230.4(JUP):c.692T>C (p.Leu231Pro)
|
rs782109462
|
|
|
NM_002230.4(JUP):c.700A>G (p.Met234Val)
|
|
|
|
NM_002230.4(JUP):c.707+12T>C
|
rs782282188
|
|
|
NM_002230.4(JUP):c.707+19T>G
|
|
|
|
NM_002230.4(JUP):c.707+20G>T
|
|
|
|
NM_002230.4(JUP):c.707+9C>G
|
rs561653700
|
|
|
NM_002230.4(JUP):c.708-11C>T
|
|
|
|
NM_002230.4(JUP):c.708-13C>A
|
|
|
|
NM_002230.4(JUP):c.708-3C>A
|
rs1555604620
|
|
|
NM_002230.4(JUP):c.708-3dup
|
rs782230165
|
|
|
NM_002230.4(JUP):c.708-6C>T
|
rs782704213
|
|
|
NM_002230.4(JUP):c.708-8C>T
|
|
|
|
NM_002230.4(JUP):c.708-9C>A
|
rs1915931667
|
|
|
NM_002230.4(JUP):c.708-9C>T
|
rs1915931667
|
|
|
NM_002230.4(JUP):c.71C>A (p.Ser24Ter)
|
rs782460555
|
|
|
NM_002230.4(JUP):c.722C>T (p.Ser241Leu)
|
|
|
|
NM_002230.4(JUP):c.726C>T (p.Val242=)
|
rs2143652970
|
|
|
NM_002230.4(JUP):c.729G>A (p.Leu243=)
|
rs2143652897
|
|
|
NM_002230.4(JUP):c.729G>C (p.Leu243=)
|
|
|
|
NM_002230.4(JUP):c.731T>C (p.Phe244Ser)
|
rs1915926866
|
|
|
NM_002230.4(JUP):c.73_88del (p.Gly25fs)
|
rs1916687478
|
|
|
NM_002230.4(JUP):c.743C>A (p.Thr248Asn)
|
|
|
|
NM_002230.4(JUP):c.745A>C (p.Thr249Pro)
|
rs2143652715
|
|
|
NM_002230.4(JUP):c.747G>A (p.Thr249=)
|
|
|
|
NM_002230.4(JUP):c.751C>T (p.His251Tyr)
|
|
|
|
NM_002230.4(JUP):c.754A>G (p.Asn252Asp)
|
rs1915923358
|
|
|
NM_002230.4(JUP):c.762C>G (p.Leu254=)
|
rs781805854
|
|
|
NM_002230.4(JUP):c.763C>T (p.Leu255=)
|
rs1005433215
|
|
|
NM_002230.4(JUP):c.766T>C (p.Tyr256His)
|
rs1915921460
|
|
|
NM_002230.4(JUP):c.76A>C (p.Ile26Leu)
|
|
|
|
NM_002230.4(JUP):c.772G>C (p.Glu258Gln)
|
rs1915920461
|
|
|
NM_002230.4(JUP):c.781_796del (p.Lys261fs)
|
rs2143651415
|
|
|
NM_002230.4(JUP):c.790G>A (p.Val264Met)
|
|
|
|
NM_002230.4(JUP):c.796C>G (p.Leu266Val)
|
rs2143651347
|
|
|
NM_002230.4(JUP):c.798G>A (p.Leu266=)
|
|
|
|
NM_002230.4(JUP):c.805G>A (p.Gly269Arg)
|
rs1915915013
|
|
|
NM_002230.4(JUP):c.805G>C (p.Gly269Arg)
|
|
|
|
NM_002230.4(JUP):c.813A>G (p.Gln271=)
|
rs1597817544
|
|
|
NM_002230.4(JUP):c.817A>T (p.Met273Leu)
|
rs2143650846
|
|
|
NM_002230.4(JUP):c.820G>A (p.Val274Met)
|
rs1555604537
|
|
|
NM_002230.4(JUP):c.828G>C (p.Leu276=)
|
|
|
|
NM_002230.4(JUP):c.831C>T (p.Leu277=)
|
rs1915911159
|
|
|
NM_002230.4(JUP):c.839A>G (p.Asn280Ser)
|
|
|
|
NM_002230.4(JUP):c.83C>T (p.Ser28Leu)
|
rs782713414
|
|
|
NM_002230.4(JUP):c.84G>C (p.Ser28=)
|
rs144137028
|
|
|
NM_002230.4(JUP):c.852C>T (p.Phe284=)
|
|
|
|
NM_002230.4(JUP):c.855G>A (p.Leu285=)
|
|
|
|
NM_002230.4(JUP):c.855G>C (p.Leu285=)
|
rs1392149768
|
|
|
NM_002230.4(JUP):c.856G>A (p.Ala286Thr)
|
rs1915907385
|
|
|
NM_002230.4(JUP):c.859A>G (p.Ile287Val)
|
rs1567815934
|
|
|
NM_002230.4(JUP):c.865_866delinsCT (p.Thr289Leu)
|
rs1915905294
|
|
|
NM_002230.4(JUP):c.871T>C (p.Cys291Arg)
|
rs2143649566
|
|
|
NM_002230.4(JUP):c.872G>A (p.Cys291Tyr)
|
rs1915903369
|
|
|
NM_002230.4(JUP):c.873C>A (p.Cys291Ter)
|
|
|
|
NM_002230.4(JUP):c.874C>G (p.Leu292Val)
|
rs1915903019
|
|
|
NM_002230.4(JUP):c.875T>C (p.Leu292Pro)
|
|
|
|
NM_002230.4(JUP):c.886G>T (p.Ala296Ser)
|
|
|
|
NM_002230.4(JUP):c.909+10C>T
|
rs2143648785
|
|
|
NM_002230.4(JUP):c.909+20C>T
|
rs2143648546
|
|
|
NM_002230.4(JUP):c.909+6C>A
|
|
|
|
NM_002230.4(JUP):c.909+6C>T
|
rs193922705
|
|
|
NM_002230.4(JUP):c.910-14C>T
|
|
|
|
NM_002230.4(JUP):c.910-16C>T
|
|
|
|
NM_002230.4(JUP):c.910-19A>G
|
|
|
|
NM_002230.4(JUP):c.910-19A>T
|
|
|
|
NM_002230.4(JUP):c.910-7C>T
|
rs782066434
|
|
|
NM_002230.4(JUP):c.910-9T>A
|
|
|
|
NM_002230.4(JUP):c.910-9T>C
|
rs1915494472
|
|
|
NM_002230.4(JUP):c.915C>A (p.Ile305=)
|
|
|
|
NM_002230.4(JUP):c.916del (p.Ile306fs)
|
|
|
|
NM_002230.4(JUP):c.926A>T (p.Asn309Ile)
|
rs140606359
|
|
|
NM_002230.4(JUP):c.927T>C (p.Asn309=)
|
rs571363075
|
|
|
NM_002230.4(JUP):c.931G>A (p.Gly311Arg)
|
rs1915488679
|
|
|
NM_002230.4(JUP):c.93C>T (p.Asn31=)
|
rs1597835146
|
|
|
NM_002230.4(JUP):c.941C>G (p.Ala314Gly)
|
rs201214805
|
|
|
NM_002230.4(JUP):c.947T>G (p.Val316Gly)
|
rs1915485566
|
|
|
NM_002230.4(JUP):c.952A>G (p.Ile318Val)
|
|
|
|
NM_002230.4(JUP):c.958C>A (p.Arg320Ser)
|
|
|
|
NM_002230.4(JUP):c.959G>A (p.Arg320His)
|
rs781965392
|
|
|
NM_002230.4(JUP):c.959G>T (p.Arg320Leu)
|
|
|
|
NM_002230.4(JUP):c.96C>T (p.Thr32=)
|
|
|
|
NM_002230.4(JUP):c.970T>A (p.Tyr324Asn)
|
|
|
|
NM_002230.4(JUP):c.970T>C (p.Tyr324His)
|
|
|
|
NM_002230.4(JUP):c.973G>A (p.Glu325Lys)
|
rs781974007
|
|
|
NM_002230.4(JUP):c.981G>A (p.Leu327=)
|
rs1295630627
|
|
|
NM_002230.4(JUP):c.984C>T (p.Leu328=)
|
|
|
|
NM_002230.4(JUP):c.98G>T (p.Cys33Phe)
|
|
|
|
NM_002230.4(JUP):c.995G>A (p.Ser332Asn)
|
rs1915476254
|
|
|
NM_002230.4(JUP):c.9G>C (p.Val3=)
|
|
|
|
NM_002471.4(MYH6):c.2957G>A (p.Gly986Glu)
|
rs1369680809
|
|
|
NM_002471.4(MYH6):c.3607dup (p.Ala1203fs)
|
rs1114167343
|
|
|
NM_002667.5(PLN):c.37AGA[1] (p.Arg14del)
|
rs397516784
|
|
|
NM_002734.5(PRKAR1A):c.565_566insC (p.Glu189fs)
|
rs2143321666
|
|
|
NM_002834.5(PTPN11):c.1705T>C (p.Cys569Arg)
|
rs1420924484
|
|
|
NM_003239.5(TGFB3):c.-440CTT[2]
|
rs774422953
|
|
|
NM_003239.5(TGFB3):c.-536del
|
rs71451199
|
|
|
NM_003239.5(TGFB3):c.-536dup
|
rs71451199
|
|
|
NM_003239.5(TGFB3):c.1034C>G (p.Ser345Ter)
|
rs1060502827
|
|
|
NM_003239.5(TGFB3):c.1102_1105del (p.Leu368fs)
|
rs1555360047
|
|
|
NM_003239.5(TGFB3):c.1219A>G (p.Lys407Glu)
|
rs1248127840
|
|
|
NM_003239.5(TGFB3):c.1A>G (p.Met1Val)
|
rs375153534
|
|
|
NM_003239.5(TGFB3):c.260G>T (p.Arg87Met)
|
rs1379970824
|
|
|
NM_003239.5(TGFB3):c.325G>A (p.Asp109Asn)
|
rs986180095
|
|
|
NM_003239.5(TGFB3):c.352+124C>G
|
|
|
|
NM_003239.5(TGFB3):c.353-14_353-10del
|
rs1422599707
|
|
|
NM_003239.5(TGFB3):c.411del (p.Ser138fs)
|
rs2035295129
|
|
|
NM_003239.5(TGFB3):c.464G>A (p.Arg155Gln)
|
rs925224125
|
|
|
NM_003239.5(TGFB3):c.756C>T (p.Gly252=)
|
rs369435862
|
|
|
NM_003239.5(TGFB3):c.785G>T (p.Gly262Val)
|
rs1595339233
|
|
|
NM_003239.5(TGFB3):c.854C>A (p.Pro285Gln)
|
rs1288935716
|
|
|
NM_003239.5(TGFB3):c.927-1G>C
|
rs767548724
|
|
|
NM_003239.5(TGFB3):c.997G>A (p.Val333Ile)
|
|
|
|
NM_004006.3(DMD):c.531-11_531-6del
|
rs758404687
|
|
|
NM_004006.3(DMD):c.891G>T (p.Lys297Asn)
|
rs1569467457
|
|
|
NM_004409.5(DMPK):c.582-6G>C
|
rs766818029
|
|
|
NM_004415.2(DSP):c.2131_2132del
|
rs587782927
|
|
|
NM_004415.2(DSP):c.5671_*1792delinsAGAGAAGAACAGTCTT
|
|
|
|
NM_004415.2(DSP):c.5671_*835+957del4738insAGAACAGTCTT
|
|
|
|
NM_004415.3(DSP):c.-260A>G
|
rs886061738
|
|
|
NM_004415.3(DSP):c.8487_8498del12
|
rs727504704
|
|
|
NM_004415.4(DSP):c.*203A>G
|
rs1198624922
|
|
|
NM_004415.4(DSP):c.*300C>A
|
rs886061750
|
|
|
NM_004415.4(DSP):c.*305C>A
|
rs886061751
|
|
|
NM_004415.4(DSP):c.*325A>G
|
rs1759669252
|
|
|
NM_004415.4(DSP):c.*384C>A
|
rs886061753
|
|
|
NM_004415.4(DSP):c.*386G>T
|
rs886061754
|
|
|
NM_004415.4(DSP):c.*43T>A
|
rs373414877
|
|
|
NM_004415.4(DSP):c.*598G>T
|
rs886061756
|
|
|
NM_004415.4(DSP):c.*681C>A
|
rs886061757
|
|
|
NM_004415.4(DSP):c.*762G>T
|
rs1759684939
|
|
|
NM_004415.4(DSP):c.-104G>A
|
rs1757981061
|
|
|
NM_004415.4(DSP):c.-179T>C
|
rs886061741
|
|
|
NM_004415.4(DSP):c.-190G>T
|
rs886061740
|
|
|
NM_004415.4(DSP):c.-228C>A
|
rs886061739
|
|
|
NM_004415.4(DSP):c.-36C>A
|
rs886061743
|
|
|
NM_004415.4(DSP):c.-70C>T
|
rs1757982573
|
|
|
NM_004415.4(DSP):c.-76C>T
|
rs377133467
|
|
|
NM_004415.4(DSP):c.1002C>T (p.Asp334=)
|
|
|
|
NM_004415.4(DSP):c.1003del (p.Gln335fs)
|
rs2113671104
|
|
|
NM_004415.4(DSP):c.1008T>G (p.Leu336=)
|
|
|
|
NM_004415.4(DSP):c.1009_1010dup (p.Leu338fs)
|
rs2113671123
|
|
|
NM_004415.4(DSP):c.1010T>C (p.Val337Ala)
|
|
|
|
NM_004415.4(DSP):c.1027G>A (p.Ala343Thr)
|
|
|
|
NM_004415.4(DSP):c.102C>T (p.Gly34=)
|
rs763785063
|
|
|
NM_004415.4(DSP):c.1042G>T (p.Glu348Ter)
|
|
|
|
NM_004415.4(DSP):c.1044+3A>C
|
rs765089914
|
|
|
NM_004415.4(DSP):c.1044+3A>G
|
rs765089914
|
|
|
NM_004415.4(DSP):c.1044+5G>T
|
|
|
|
NM_004415.4(DSP):c.1044G>A (p.Glu348=)
|
rs1758868593
|
|
|
NM_004415.4(DSP):c.1045-1G>C
|
|
|
|
NM_004415.4(DSP):c.1045G>C (p.Ala349Pro)
|
|
|
|
NM_004415.4(DSP):c.1047C>T (p.Ala349=)
|
rs1758892420
|
|
|
NM_004415.4(DSP):c.1049A>G (p.Tyr350Cys)
|
rs1187569405
|
|
|
NM_004415.4(DSP):c.1052T>G (p.Met351Arg)
|
|
|
|
NM_004415.4(DSP):c.1054G>A (p.Asp352Asn)
|
|
|
|
NM_004415.4(DSP):c.1056_1061del (p.Asp352_Leu354delinsGlu)
|
rs1758892954
|
|
|
NM_004415.4(DSP):c.1058C>G (p.Thr353Ser)
|
|
|
|
NM_004415.4(DSP):c.1060_1061del (p.Leu354fs)
|
rs1249913357
|
|
|
NM_004415.4(DSP):c.1061T>C (p.Leu354Pro)
|
|
|
|
NM_004415.4(DSP):c.1061T>G (p.Leu354Arg)
|
|
|
|
NM_004415.4(DSP):c.1066A>G (p.Thr356Ala)
|
|
|
|
NM_004415.4(DSP):c.1066A>T (p.Thr356Ser)
|
rs1052446501
|
|
|
NM_004415.4(DSP):c.1067C>A (p.Thr356Lys)
|
rs780626687
|
|
|
NM_004415.4(DSP):c.1067C>T (p.Thr356Met)
|
rs780626687
|
|
|
NM_004415.4(DSP):c.1074G>C (p.Trp358Cys)
|
rs1758893971
|
|
|
NM_004415.4(DSP):c.1080G>A (p.Trp360Ter)
|
rs2113672480
|
|
|
NM_004415.4(DSP):c.1084C>T (p.Leu362Phe)
|
|
|
|
NM_004415.4(DSP):c.1087C>T (p.Gln363Ter)
|
rs778856526
|
|
|
NM_004415.4(DSP):c.1089G>C (p.Gln363His)
|
|
|
|
NM_004415.4(DSP):c.1092C>T (p.Ile364=)
|
|
|
|
NM_004415.4(DSP):c.1094C>G (p.Thr365Ser)
|
rs754577019
|
|
|
NM_004415.4(DSP):c.1099_1100del (p.Cys367fs)
|
rs2113672514
|
|
|
NM_004415.4(DSP):c.1100G>A (p.Cys367Tyr)
|
|
|
|
NM_004415.4(DSP):c.1102A>G (p.Ile368Val)
|
rs794728112
|
|
|
NM_004415.4(DSP):c.110C>G (p.Thr37Ser)
|
|
|
|
NM_004415.4(DSP):c.1112A>C (p.His371Pro)
|
rs397516912
|
|
|
NM_004415.4(DSP):c.1112A>G (p.His371Arg)
|
rs397516912
|
|
|
NM_004415.4(DSP):c.1112A>T (p.His371Leu)
|
|
|
|
NM_004415.4(DSP):c.1115T>C (p.Leu372Pro)
|
rs1758895792
|
|
|
NM_004415.4(DSP):c.1119del (p.Glu374fs)
|
|
|
|
NM_004415.4(DSP):c.111C>A (p.Thr37=)
|
rs727502995
|
|
|
NM_004415.4(DSP):c.1125T>C (p.Asn375=)
|
|
|
|
NM_004415.4(DSP):c.1135T>A (p.Phe379Ile)
|
rs757853478
|
|
|
NM_004415.4(DSP):c.1140+14G>C
|
|
|
|
NM_004415.4(DSP):c.1140+20A>G
|
rs2113672635
|
|
|
NM_004415.4(DSP):c.1141-12C>T
|
|
|
|
NM_004415.4(DSP):c.1141-15T>C
|
|
|
|
NM_004415.4(DSP):c.1141-1G>A
|
rs2113673067
|
|
|
NM_004415.4(DSP):c.1141-2A>G
|
rs794728111
|
|
|
NM_004415.4(DSP):c.1141-2A>T
|
rs794728111
|
|
|
NM_004415.4(DSP):c.1141-8C>A
|
rs1758907949
|
|
|
NM_004415.4(DSP):c.1141-9C>T
|
|
|
|
NM_004415.4(DSP):c.1142T>C (p.Phe381Ser)
|
rs1209991251
|
|
|
NM_004415.4(DSP):c.1146del (p.Phe382fs)
|
rs397516913
|
|
|
NM_004415.4(DSP):c.1161T>A (p.Ser387=)
|
rs1758909456
|
|
|
NM_004415.4(DSP):c.1162del (p.Thr388fs)
|
rs1554106742
|
|
|
NM_004415.4(DSP):c.1165G>A (p.Glu389Lys)
|
rs1758909720
|
|
|
NM_004415.4(DSP):c.117G>A (p.Arg39=)
|
|
|
|
NM_004415.4(DSP):c.1180G>A (p.Gly394Arg)
|
rs769054351
|
|
|
NM_004415.4(DSP):c.1181G>C (p.Gly394Ala)
|
|
|
|
NM_004415.4(DSP):c.1182G>T (p.Gly394=)
|
|
|
|
NM_004415.4(DSP):c.1182del (p.Leu395fs)
|
rs1554106743
|
|
|
NM_004415.4(DSP):c.1184T>C (p.Leu395Pro)
|
|
|
|
NM_004415.4(DSP):c.1186del (p.Gln396fs)
|
rs2113673178
|
|
|
NM_004415.4(DSP):c.1201A>G (p.Lys401Glu)
|
|
|
|
NM_004415.4(DSP):c.1209C>A (p.Tyr403Ter)
|
rs2113673248
|
|
|
NM_004415.4(DSP):c.1209C>G (p.Tyr403Ter)
|
|
|
|
NM_004415.4(DSP):c.1215C>A (p.Cys405Ter)
|
|
|
|
NM_004415.4(DSP):c.1216G>A (p.Asp406Asn)
|
rs1758911711
|
|
|
NM_004415.4(DSP):c.1222A>G (p.Asn408Asp)
|
rs142129767
|
|
|
NM_004415.4(DSP):c.1232T>C (p.Leu411Pro)
|
|
|
|
NM_004415.4(DSP):c.1234C>T (p.Gln412Ter)
|
rs1758912749
|
|
|
NM_004415.4(DSP):c.123C>G (p.Tyr41Ter)
|
rs1057523045
|
|
|
NM_004415.4(DSP):c.123_125dup (p.Tyr42_Ser43insTyr)
|
|
|
|
NM_004415.4(DSP):c.1240C>T (p.Leu414=)
|
|
|
|
NM_004415.4(DSP):c.1248A>G (p.Glu416=)
|
rs1554106751
|
|
|
NM_004415.4(DSP):c.1249C>T (p.Gln417Ter)
|
|
|
|
NM_004415.4(DSP):c.125A>G (p.Tyr42Cys)
|
|
|
|
NM_004415.4(DSP):c.1266+3A>G
|
|
|
|
NM_004415.4(DSP):c.1266+6G>A
|
rs73375345
|
|
|
NM_004415.4(DSP):c.1266+6G>T
|
rs73375345
|
|
|
NM_004415.4(DSP):c.1266G>C (p.Glu422Asp)
|
rs1758913797
|
|
|
NM_004415.4(DSP):c.1267-10A>C
|
rs2113674080
|
|
|
NM_004415.4(DSP):c.1267-13T>C
|
|
|
|
NM_004415.4(DSP):c.1267-20G>A
|
|
|
|
NM_004415.4(DSP):c.1267-2A>G
|
rs1554106830
|
|
|
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter)
|
rs397516915
|
|
|
NM_004415.4(DSP):c.1274G>T (p.Arg425Leu)
|
rs397516916
|
|
|
NM_004415.4(DSP):c.1276G>T (p.Glu426Ter)
|
|
|
|
NM_004415.4(DSP):c.1282A>G (p.Ile428Val)
|
|
|
|
NM_004415.4(DSP):c.1282dup (p.Ile428fs)
|
rs1561687796
|
|
|
NM_004415.4(DSP):c.1288G>A (p.Glu430Lys)
|
|
|
|
NM_004415.4(DSP):c.1288G>T (p.Glu430Ter)
|
rs761380979
|
|
|
NM_004415.4(DSP):c.1293del (p.Glu430_Tyr431insTer)
|
rs2113674180
|
|
|
NM_004415.4(DSP):c.12C>G (p.Asn4Lys)
|
rs368802003
|
|
|
NM_004415.4(DSP):c.12C>T (p.Asn4=)
|
rs368802003
|
|
|
NM_004415.4(DSP):c.1302G>A (p.Gln434=)
|
|
|
|
NM_004415.4(DSP):c.1303G>A (p.Val435Met)
|
|
|
|
NM_004415.4(DSP):c.1308G>C (p.Gln436His)
|
rs1057522715
|
|
|
NM_004415.4(DSP):c.1310A>G (p.Asn437Ser)
|
rs2113674233
|
|
|
NM_004415.4(DSP):c.1329G>A (p.Lys443=)
|
rs767785995
|
|
|
NM_004415.4(DSP):c.132G>A (p.Arg44=)
|
rs1204569556
|
|
|
NM_004415.4(DSP):c.1331A>C (p.Lys444Thr)
|
rs1554106843
|
|
|
NM_004415.4(DSP):c.1333A>G (p.Ile445Val)
|
|
|
|
NM_004415.4(DSP):c.1335T>G (p.Ile445Met)
|
rs898213877
|
|
|
NM_004415.4(DSP):c.1339C>T (p.Gln447Ter)
|
rs2113674300
|
|
|
NM_004415.4(DSP):c.133C>T (p.Arg45Cys)
|
|
|
|
NM_004415.4(DSP):c.1350_1351insTTA (p.Pro450_Arg451insLeu)
|
rs1581802595
|
|
|
NM_004415.4(DSP):c.1351C>G (p.Arg451Gly)
|
rs1057518309
|
|
|
NM_004415.4(DSP):c.1351C>T (p.Arg451Cys)
|
rs1057518309
|
|
|
NM_004415.4(DSP):c.1352G>A (p.Arg451His)
|
rs786204294
|
|
|
NM_004415.4(DSP):c.1352G>C (p.Arg451Pro)
|
|
|
|
NM_004415.4(DSP):c.1356C>T (p.Asn452=)
|
rs1187261274
|
|
|
NM_004415.4(DSP):c.1357C>A (p.Pro453Thr)
|
|
|
|
NM_004415.4(DSP):c.1362C>T (p.Asp454=)
|
rs778044416
|
|
|
NM_004415.4(DSP):c.1372A>T (p.Asn458Tyr)
|
|
|
|
NM_004415.4(DSP):c.1378C>T (p.Pro460Ser)
|
|
|
|
NM_004415.4(DSP):c.1379C>T (p.Pro460Leu)
|
rs757300149
|
|
|
NM_004415.4(DSP):c.1380C>T (p.Pro460=)
|
rs1451086273
|
|
|
NM_004415.4(DSP):c.1382T>C (p.Ile461Thr)
|
rs1554106853
|
|
|
NM_004415.4(DSP):c.1386_1389del (p.Leu463fs)
|
|
|
|
NM_004415.4(DSP):c.1392A>C (p.Arg464Ser)
|
rs1403332231
|
|
|
NM_004415.4(DSP):c.1395T>C (p.Ala465=)
|
rs778926592
|
|
|
NM_004415.4(DSP):c.1395T>G (p.Ala465=)
|
|
|
|
NM_004415.4(DSP):c.1396C>T (p.Leu466Phe)
|
|
|
|
NM_004415.4(DSP):c.1397T>C (p.Leu466Pro)
|
rs727504661
|
|
|
NM_004415.4(DSP):c.1398C>G (p.Leu466=)
|
rs1465847887
|
|
|
NM_004415.4(DSP):c.1404C>T (p.Asp468=)
|
|
|
|
NM_004415.4(DSP):c.1411_1412insT (p.Gln471fs)
|
rs1581802715
|
|
|
NM_004415.4(DSP):c.1414G>A (p.Asp472Asn)
|
rs2113674467
|
|
|
NM_004415.4(DSP):c.1419+17A>G
|
|
|
|
NM_004415.4(DSP):c.1420-13G>T
|
|
|
|
NM_004415.4(DSP):c.1420-1G>T
|
rs1060500609
|
|
|
NM_004415.4(DSP):c.1420-2A>G
|
|
|
|
NM_004415.4(DSP):c.1420-3C>T
|
rs786204296
|
|
|
NM_004415.4(DSP):c.1420-9G>C
|
rs1758956235
|
|
|
NM_004415.4(DSP):c.1425C>T (p.Ile475=)
|
rs1329910838
|
|
|
NM_004415.4(DSP):c.1426G>A (p.Val476Met)
|
rs367987327
|
|
|
NM_004415.4(DSP):c.1428G>A (p.Val476=)
|
|
|
|
NM_004415.4(DSP):c.1431T>C (p.His477=)
|
rs1554106904
|
|
|
NM_004415.4(DSP):c.1435G>C (p.Gly479Arg)
|
rs1288305110
|
|
|
NM_004415.4(DSP):c.1438dup (p.Asp480fs)
|
|
|
|
NM_004415.4(DSP):c.1439del (p.Asp480fs)
|
rs2113675360
|
|
|
NM_004415.4(DSP):c.1441G>A (p.Glu481Lys)
|
rs1758958794
|
|
|
NM_004415.4(DSP):c.1441G>T (p.Glu481Ter)
|
|
|
|
NM_004415.4(DSP):c.1444T>C (p.Cys482Arg)
|
rs746816016
|
|
|
NM_004415.4(DSP):c.1445G>A (p.Cys482Tyr)
|
rs1472091469
|
|
|
NM_004415.4(DSP):c.1445_1446del (p.Cys482fs)
|
|
|
|
NM_004415.4(DSP):c.1449C>A (p.Ile483=)
|
rs1758959651
|
|
|
NM_004415.4(DSP):c.1455G>A (p.Lys485=)
|
|
|
|
NM_004415.4(DSP):c.1460A>G (p.Asn487Ser)
|
|
|
|
NM_004415.4(DSP):c.1464C>T (p.Asn488=)
|
rs768526275
|
|
|
NM_004415.4(DSP):c.146C>T (p.Thr49Ile)
|
rs151153655
|
|
|
NM_004415.4(DSP):c.1475A>G (p.Lys492Arg)
|
|
|
|
NM_004415.4(DSP):c.1476G>A (p.Lys492=)
|
rs2113675467
|
|
|
NM_004415.4(DSP):c.1479G>A (p.Trp493Ter)
|
rs1758962311
|
|
|
NM_004415.4(DSP):c.1483G>T (p.Val495Leu)
|
rs372014020
|
|
|
NM_004415.4(DSP):c.1483_1485delinsTTT (p.Val495Phe)
|
rs1064795582
|
|
|
NM_004415.4(DSP):c.1484T>G (p.Val495Gly)
|
rs727504518
|
|
|
NM_004415.4(DSP):c.1485G>T (p.Val495=)
|
rs2113675497
|
|
|
NM_004415.4(DSP):c.1487C>G (p.Thr496Arg)
|
rs374283517
|
|
|
NM_004415.4(DSP):c.1492C>G (p.Pro498Ala)
|
rs1581803474
|
|
|
NM_004415.4(DSP):c.1492C>T (p.Pro498Ser)
|
rs1581803474
|
|
|
NM_004415.4(DSP):c.1497A>G (p.Gly499=)
|
rs1581803484
|
|
|
NM_004415.4(DSP):c.14G>C (p.Gly5Ala)
|
rs1757989474
|
|
|
NM_004415.4(DSP):c.1500C>T (p.Gly500=)
|
rs762086998
|
|
|
NM_004415.4(DSP):c.1504G>A (p.Asp502Asn)
|
rs750547425
|
|
|
NM_004415.4(DSP):c.1506C>T (p.Asp502=)
|
|
|
|
NM_004415.4(DSP):c.1509G>A (p.Met503Ile)
|
|
|
|
NM_004415.4(DSP):c.1513G>A (p.Val505Ile)
|
|
|
|
NM_004415.4(DSP):c.1523_1524del (p.Val508fs)
|
|
|
|
NM_004415.4(DSP):c.1524G>C (p.Val508=)
|
rs2113675631
|
|
|
NM_004415.4(DSP):c.1527G>T (p.Gly509=)
|
rs397516917
|
|
|
NM_004415.4(DSP):c.1529T>C (p.Leu510Pro)
|
rs2113675644
|
|
|
NM_004415.4(DSP):c.1542T>A (p.Pro514=)
|
rs1554106920
|
|
|
NM_004415.4(DSP):c.1544C>T (p.Pro515Leu)
|
rs730880079
|
|
|
NM_004415.4(DSP):c.1548C>G (p.Asn516Lys)
|
rs1407207091
|
|
|
NM_004415.4(DSP):c.1555G>T (p.Ala519Ser)
|
rs2113675699
|
|
|
NM_004415.4(DSP):c.1556C>T (p.Ala519Val)
|
rs1395532173
|
|
|
NM_004415.4(DSP):c.1558G>A (p.Val520Met)
|
|
|
|
NM_004415.4(DSP):c.1558G>T (p.Val520Leu)
|
rs777545428
|
|
|
NM_004415.4(DSP):c.1561G>A (p.Asp521Asn)
|
rs1449447405
|
|
|
NM_004415.4(DSP):c.1563C>A (p.Asp521Glu)
|
rs113378925
|
|
|
NM_004415.4(DSP):c.1565T>C (p.Leu522Pro)
|
rs955640904
|
|
|
NM_004415.4(DSP):c.1574+12A>C
|
rs777035331
|
|
|
NM_004415.4(DSP):c.1574+12A>G
|
|
|
|
NM_004415.4(DSP):c.1574+16T>C
|
|
|
|
NM_004415.4(DSP):c.1574+1G>A
|
rs1758971797
|
|
|
NM_004415.4(DSP):c.1574+1G>C
|
rs1758971797
|
|
|
NM_004415.4(DSP):c.1574+20A>G
|
rs1190197652
|
|
|
NM_004415.4(DSP):c.1574+5G>A
|
rs2113675801
|
|
|
NM_004415.4(DSP):c.1574A>G (p.Lys525Arg)
|
|
|
|
NM_004415.4(DSP):c.1575-17C>T
|
|
|
|
NM_004415.4(DSP):c.1575-4_1575-3del
|
rs1759008080
|
|
|
NM_004415.4(DSP):c.1575-9G>T
|
|
|
|
NM_004415.4(DSP):c.1577T>C (p.Ile526Thr)
|
rs1561689358
|
|
|
NM_004415.4(DSP):c.157T>C (p.Ser53Pro)
|
rs397516918
|
|
|
NM_004415.4(DSP):c.157T>G (p.Ser53Ala)
|
rs397516918
|
|
|
NM_004415.4(DSP):c.1582del (p.Gln528fs)
|
rs2113677263
|
|
|
NM_004415.4(DSP):c.1587C>T (p.Tyr529=)
|
rs2113677271
|
|
|
NM_004415.4(DSP):c.158C>T (p.Ser53Leu)
|
rs1398517175
|
|
|
NM_004415.4(DSP):c.159G>A (p.Ser53=)
|
|
|
|
NM_004415.4(DSP):c.1603G>C (p.Ala535Pro)
|
rs777088675
|
|
|
NM_004415.4(DSP):c.1609_1610del (p.Trp537fs)
|
|
|
|
NM_004415.4(DSP):c.1611G>A (p.Trp537Ter)
|
rs794728114
|
|
|
NM_004415.4(DSP):c.1615C>A (p.Gln539Lys)
|
rs727504498
|
|
|
NM_004415.4(DSP):c.1619T>C (p.Leu540Pro)
|
|
|
|
NM_004415.4(DSP):c.1624A>G (p.Ile542Val)
|
rs2113677376
|
|
|
NM_004415.4(DSP):c.1627A>C (p.Asn543His)
|
rs917602533
|
|
|
NM_004415.4(DSP):c.162C>G (p.Asp54Glu)
|
|
|
|
NM_004415.4(DSP):c.162C>T (p.Asp54=)
|
rs1057113375
|
|
|
NM_004415.4(DSP):c.1639C>T (p.Leu547=)
|
|
|
|
NM_004415.4(DSP):c.1650G>A (p.Trp550Ter)
|
rs397516919
|
|
|
NM_004415.4(DSP):c.1656C>G (p.Tyr552Ter)
|
rs1759011966
|
|
|
NM_004415.4(DSP):c.1660A>G (p.Met554Val)
|
|
|
|
NM_004415.4(DSP):c.1665T>C (p.Ile555=)
|
|
|
|
NM_004415.4(DSP):c.1670T>C (p.Ile557Thr)
|
rs1759012793
|
|
|
NM_004415.4(DSP):c.1675A>G (p.Lys559Glu)
|
|
|
|
NM_004415.4(DSP):c.1680C>T (p.Ile560=)
|
rs397516920
|
|
|
NM_004415.4(DSP):c.1680del (p.Arg561fs)
|
|
|
|
NM_004415.4(DSP):c.1691C>T (p.Thr564Ile)
|
rs606231295
|
|
|
NM_004415.4(DSP):c.169T>C (p.Cys57Arg)
|
|
|
|
NM_004415.4(DSP):c.169_170+13del
|
rs2113629234
|
|
|
NM_004415.4(DSP):c.170+10T>C
|
|
|
|
NM_004415.4(DSP):c.170+11G>T
|
rs727505007
|
|
|
NM_004415.4(DSP):c.170+12C>A
|
|
|
|
NM_004415.4(DSP):c.170+13C>T
|
|
|
|
NM_004415.4(DSP):c.170+14C>T
|
|
|
|
NM_004415.4(DSP):c.170+15G>A
|
|
|
|
NM_004415.4(DSP):c.170+18G>A
|
|
|
|
NM_004415.4(DSP):c.170+19A>G
|
|
|
|
NM_004415.4(DSP):c.170+1G>A
|
rs1309931610
|
|
|
NM_004415.4(DSP):c.170+2341A>G
|
|
|
|
NM_004415.4(DSP):c.170+2dup
|
rs2113629250
|
|
|
NM_004415.4(DSP):c.170+5G>A
|
rs727502996
|
|
|
NM_004415.4(DSP):c.170+5G>C
|
rs727502996
|
|
|
NM_004415.4(DSP):c.170+5del
|
rs1554104240
|
|
|
NM_004415.4(DSP):c.170+5dup
|
|
|
|
NM_004415.4(DSP):c.1700A>G (p.Lys567Arg)
|
rs2113677553
|
|
|
NM_004415.4(DSP):c.1701+18C>G
|
rs2113677592
|
|
|
NM_004415.4(DSP):c.1701+2T>C
|
|
|
|
NM_004415.4(DSP):c.1701+7C>A
|
|
|
|
NM_004415.4(DSP):c.1702-12G>A
|
rs1759045119
|
|
|
NM_004415.4(DSP):c.1702-13T>A
|
rs771235236
|
|
|
NM_004415.4(DSP):c.1702-16_1702-15delinsCT
|
|
|
|
NM_004415.4(DSP):c.1702-1G>T
|
|
|
|
NM_004415.4(DSP):c.1702-7C>G
|
|
|
|
NM_004415.4(DSP):c.1702-7_1702-3del
|
|
|
|
NM_004415.4(DSP):c.1708del (p.Thr570fs)
|
|
|
|
NM_004415.4(DSP):c.171-3dup
|
rs1554105600
|
|
|
NM_004415.4(DSP):c.171-5C>G
|
|
|
|
NM_004415.4(DSP):c.171-5C>T
|
|
|
|
NM_004415.4(DSP):c.1710A>C (p.Thr570=)
|
rs1429455523
|
|
|
NM_004415.4(DSP):c.1710_1711del (p.Met571fs)
|
rs2113678808
|
|
|
NM_004415.4(DSP):c.1711A>G (p.Met571Val)
|
|
|
|
NM_004415.4(DSP):c.1712T>C (p.Met571Thr)
|
|
|
|
NM_004415.4(DSP):c.1729A>C (p.Met577Leu)
|
rs764127243
|
|
|
NM_004415.4(DSP):c.1736C>T (p.Thr579Met)
|
|
|
|
NM_004415.4(DSP):c.1737G>T (p.Thr579=)
|
rs150734502
|
|
|
NM_004415.4(DSP):c.1737_1738delinsTT (p.Ile580Leu)
|
|
|
|
NM_004415.4(DSP):c.1743C>A (p.Ala581=)
|
rs139095230
|
|
|
NM_004415.4(DSP):c.1749T>G (p.Leu583=)
|
rs1060503981
|
|
|
NM_004415.4(DSP):c.1751del (p.Glu584fs)
|
rs727505077
|
|
|
NM_004415.4(DSP):c.1762C>T (p.Gln588Ter)
|
rs1581805658
|
|
|
NM_004415.4(DSP):c.1775G>T (p.Arg592Ile)
|
rs1759048949
|
|
|
NM_004415.4(DSP):c.177C>T (p.Thr59=)
|
rs376873185
|
|
|
NM_004415.4(DSP):c.1783C>T (p.Gln595Ter)
|
|
|
|
NM_004415.4(DSP):c.1788C>G (p.Gly596=)
|
rs2113679013
|
|
|
NM_004415.4(DSP):c.1789T>C (p.Ser597Pro)
|
|
|
|
NM_004415.4(DSP):c.178G>A (p.Gly60Ser)
|
rs982933033
|
|
|
NM_004415.4(DSP):c.1790C>T (p.Ser597Leu)
|
rs606231294
|
|
|
NM_004415.4(DSP):c.1794G>A (p.Glu598=)
|
|
|
|
NM_004415.4(DSP):c.17G>C (p.Gly6Ala)
|
rs1339636876
|
|
|
NM_004415.4(DSP):c.1806T>C (p.Asp602=)
|
rs560969680
|
|
|
NM_004415.4(DSP):c.1815_1820dup (p.Lys607_Ile608insArgLys)
|
|
|
|
NM_004415.4(DSP):c.1816C>A (p.Arg606=)
|
rs372467697
|
|
|
NM_004415.4(DSP):c.1817G>A (p.Arg606Gln)
|
rs576661499
|
|
|
NM_004415.4(DSP):c.1825C>T (p.Gln609Ter)
|
rs1561690319
|
|
|
NM_004415.4(DSP):c.1831C>T (p.Gln611Ter)
|
rs1581805788
|
|
|
NM_004415.4(DSP):c.1846C>T (p.Gln616Ter)
|
|
|
|
NM_004415.4(DSP):c.1847A>G (p.Gln616Arg)
|
|
|
|
NM_004415.4(DSP):c.1848G>A (p.Gln616=)
|
rs1215425090
|
|
|
NM_004415.4(DSP):c.1851G>A (p.Lys617=)
|
rs1759052144
|
|
|
NM_004415.4(DSP):c.1852C>T (p.His618Tyr)
|
|
|
|
NM_004415.4(DSP):c.1853A>C (p.His618Pro)
|
rs1554107096
|
|
|
NM_004415.4(DSP):c.1857C>A (p.Tyr619Ter)
|
rs1554107097
|
|
|
NM_004415.4(DSP):c.1865T>G (p.Leu622Arg)
|
rs1554107098
|
|
|
NM_004415.4(DSP):c.1869C>T (p.Val623=)
|
|
|
|
NM_004415.4(DSP):c.186G>A (p.Met62Ile)
|
rs1758488135
|
|
|
NM_004415.4(DSP):c.1870A>G (p.Ile624Val)
|
rs1759053122
|
|
|
NM_004415.4(DSP):c.1873C>G (p.Gln625Glu)
|
rs876657638
|
|
|
NM_004415.4(DSP):c.1873C>T (p.Gln625Ter)
|
rs876657638
|
|
|
NM_004415.4(DSP):c.1880C>T (p.Pro627Leu)
|
rs2113679213
|
|
|
NM_004415.4(DSP):c.1883del (p.Gly628fs)
|
rs1060500613
|
|
|
NM_004415.4(DSP):c.1897C>T (p.Gln633Ter)
|
rs1464886350
|
|
|
NM_004415.4(DSP):c.1901C>A (p.Thr634Lys)
|
rs139964486
|
|
|
NM_004415.4(DSP):c.1901C>T (p.Thr634Ile)
|
|
|
|
NM_004415.4(DSP):c.1902A>G (p.Thr634=)
|
rs1759054491
|
|
|
NM_004415.4(DSP):c.1903+11G>T
|
|
|
|
NM_004415.4(DSP):c.1903+15T>C
|
|
|
|
NM_004415.4(DSP):c.1903+17T>C
|
|
|
|
NM_004415.4(DSP):c.1903+1G>T
|
|
|
|
NM_004415.4(DSP):c.1903+3C>T
|
rs754326012
|
|
|
NM_004415.4(DSP):c.1903+3del
|
rs1064793548
|
|
|
NM_004415.4(DSP):c.1904-20G>T
|
|
|
|
NM_004415.4(DSP):c.1904-2A>G
|
rs2113679702
|
|
|
NM_004415.4(DSP):c.1904-4A>G
|
|
|
|
NM_004415.4(DSP):c.1904-9T>C
|
|
|
|
NM_004415.4(DSP):c.1904T>C (p.Val635Ala)
|
|
|
|
NM_004415.4(DSP):c.1908C>T (p.Thr636=)
|
|
|
|
NM_004415.4(DSP):c.1913C>T (p.Thr638Ile)
|
|
|
|
NM_004415.4(DSP):c.1914T>C (p.Thr638=)
|
|
|
|
NM_004415.4(DSP):c.1919T>C (p.Ile640Thr)
|
rs1407036854
|
|
|
NM_004415.4(DSP):c.1923T>A (p.Thr641=)
|
|
|
|
NM_004415.4(DSP):c.192G>A (p.Arg64=)
|
rs908789038
|
|
|
NM_004415.4(DSP):c.1938C>T (p.Cys646=)
|
rs1759064440
|
|
|
NM_004415.4(DSP):c.1941dup (p.Asp648fs)
|
rs2113679761
|
|
|
NM_004415.4(DSP):c.1945G>A (p.Val649Ile)
|
rs2113679772
|
|
|
NM_004415.4(DSP):c.194A>G (p.His65Arg)
|
rs771190708
|
|
|
NM_004415.4(DSP):c.194A>T (p.His65Leu)
|
rs771190708
|
|
|
NM_004415.4(DSP):c.1950C>A (p.Asn650Lys)
|
|
|
|
NM_004415.4(DSP):c.1963A>G (p.Ile655Val)
|
|
|
|
NM_004415.4(DSP):c.1964T>A (p.Ile655Asn)
|
|
|
|
NM_004415.4(DSP):c.1965T>C (p.Ile655=)
|
|
|
|
NM_004415.4(DSP):c.1968A>T (p.Glu656Asp)
|
rs2113679857
|
|
|
NM_004415.4(DSP):c.1970C>A (p.Thr657Asn)
|
|
|
|
NM_004415.4(DSP):c.1970C>T (p.Thr657Ile)
|
rs1014373689
|
|
|
NM_004415.4(DSP):c.1971C>G (p.Thr657=)
|
rs2113679874
|
|
|
NM_004415.4(DSP):c.1975A>G (p.Arg659Gly)
|
|
|
|
NM_004415.4(DSP):c.1976_1987del (p.Arg659_Asp662del)
|
rs1554107128
|
|
|
NM_004415.4(DSP):c.1978_1979del (p.Glu660fs)
|
|
|
|
NM_004415.4(DSP):c.1985A>G (p.Asp662Gly)
|
|
|
|
NM_004415.4(DSP):c.1993G>A (p.Glu665Lys)
|
rs2113679925
|
|
|
NM_004415.4(DSP):c.1996A>G (p.Thr666Ala)
|
|
|
|
NM_004415.4(DSP):c.1998A>G (p.Thr666=)
|
|
|
|
NM_004415.4(DSP):c.2000G>A (p.Trp667Ter)
|
rs760214732
|
|
|
NM_004415.4(DSP):c.2002A>T (p.Met668Leu)
|
|
|
|
NM_004415.4(DSP):c.2006T>C (p.Leu669Pro)
|
|
|
|
NM_004415.4(DSP):c.2011G>T (p.Glu671Ter)
|
rs2113679972
|
|
|
NM_004415.4(DSP):c.2012A>G (p.Glu671Gly)
|
rs758530970
|
|
|
NM_004415.4(DSP):c.2016G>A (p.Leu672=)
|
rs1282905209
|
|
|
NM_004415.4(DSP):c.201C>A (p.Asn67Lys)
|
|
|
|
NM_004415.4(DSP):c.2023A>T (p.Ile675Phe)
|
rs142619902
|
|
|
NM_004415.4(DSP):c.2033A>G (p.Gln678Arg)
|
|
|
|
NM_004415.4(DSP):c.2042A>G (p.His681Arg)
|
|
|
|
NM_004415.4(DSP):c.2047G>C (p.Glu683Gln)
|
|
|
|
NM_004415.4(DSP):c.2049G>A (p.Glu683=)
|
rs2113680102
|
|
|
NM_004415.4(DSP):c.204G>A (p.Gln68=)
|
|
|
|
NM_004415.4(DSP):c.2050G>T (p.Gly684Cys)
|
rs1759071281
|
|
|
NM_004415.4(DSP):c.2055G>T (p.Arg685Ser)
|
|
|
|
NM_004415.4(DSP):c.2060del (p.Thr687fs)
|
rs2113680129
|
|
|
NM_004415.4(DSP):c.2061T>C (p.Thr687=)
|
|
|
|
NM_004415.4(DSP):c.2068_2069del (p.Asn690fs)
|
|
|
|
NM_004415.4(DSP):c.2074C>G (p.Pro692Ala)
|
|
|
|
NM_004415.4(DSP):c.2075C>T (p.Pro692Leu)
|
rs1561690890
|
|
|
NM_004415.4(DSP):c.2080G>A (p.Ala694Thr)
|
rs2113680169
|
|
|
NM_004415.4(DSP):c.2084A>G (p.Asp695Gly)
|
rs2113680188
|
|
|
NM_004415.4(DSP):c.2086del (p.Gln696fs)
|
|
|
|
NM_004415.4(DSP):c.208A>G (p.Thr70Ala)
|
rs1442496444
|
|
|
NM_004415.4(DSP):c.208_209dup (p.Ile71fs)
|
rs727502993
|
|
|
NM_004415.4(DSP):c.2091A>T (p.Gly697=)
|
rs2076304
|
|
|
NM_004415.4(DSP):c.2097T>C (p.Ser699=)
|
rs2113680246
|
|
|
NM_004415.4(DSP):c.20C>T (p.Ser7Phe)
|
|
|
|
NM_004415.4(DSP):c.2103C>T (p.His701=)
|
|
|
|
NM_004415.4(DSP):c.2107A>G (p.Thr703Ala)
|
|
|
|
NM_004415.4(DSP):c.2109A>G (p.Thr703=)
|
rs1351265258
|
|
|
NM_004415.4(DSP):c.2119A>G (p.Asn707Asp)
|
rs756272327
|
|
|
NM_004415.4(DSP):c.2124G>T (p.Glu708Asp)
|
rs1759074309
|
|
|
NM_004415.4(DSP):c.2130+11G>A
|
|
|
|
NM_004415.4(DSP):c.2130+12C>T
|
|
|
|
NM_004415.4(DSP):c.2130+14A>G
|
|
|
|
NM_004415.4(DSP):c.2130+1G>A
|
rs727505115
|
|
|
NM_004415.4(DSP):c.2130+7A>G
|
rs1759074833
|
|
|
NM_004415.4(DSP):c.2135T>C (p.Val712Ala)
|
rs2113682966
|
|
|
NM_004415.4(DSP):c.2139G>T (p.Gln713His)
|
|
|
|
NM_004415.4(DSP):c.2146T>G (p.Ser716Ala)
|
rs1759149630
|
|
|
NM_004415.4(DSP):c.2149del (p.Gln717fs)
|
rs2113682999
|
|
|
NM_004415.4(DSP):c.214C>T (p.Gln72Ter)
|
rs397516923
|
|
|
NM_004415.4(DSP):c.2153C>T (p.Ala718Val)
|
rs764290255
|
|
|
NM_004415.4(DSP):c.2156T>C (p.Ile719Thr)
|
|
|
|
NM_004415.4(DSP):c.2159C>G (p.Ala720Gly)
|
rs1261146655
|
|
|
NM_004415.4(DSP):c.2161G>A (p.Glu721Lys)
|
rs963374775
|
|
|
NM_004415.4(DSP):c.2164G>T (p.Val722Phe)
|
rs1581808686
|
|
|
NM_004415.4(DSP):c.2166del (p.Leu723fs)
|
|
|
|
NM_004415.4(DSP):c.2176C>G (p.Leu726Val)
|
rs1759151851
|
|
|
NM_004415.4(DSP):c.2178T>C (p.Leu726=)
|
rs2113683095
|
|
|
NM_004415.4(DSP):c.2179A>T (p.Lys727Ter)
|
|
|
|
NM_004415.4(DSP):c.2181dup (p.Asp728fs)
|
|
|
|
NM_004415.4(DSP):c.2184T>C (p.Asp728=)
|
rs750383681
|
|
|
NM_004415.4(DSP):c.2185_2186del (p.Met729fs)
|
|
|
|
NM_004415.4(DSP):c.2185dup (p.Met729fs)
|
rs2113683109
|
|
|
NM_004415.4(DSP):c.2188C>T (p.Leu730Phe)
|
rs2113683126
|
|
|
NM_004415.4(DSP):c.2196C>G (p.Asn732Lys)
|
rs1424884336
|
|
|
NM_004415.4(DSP):c.2197T>C (p.Phe733Leu)
|
|
|
|
NM_004415.4(DSP):c.2199C>G (p.Phe733Leu)
|
rs1306942907
|
|
|
NM_004415.4(DSP):c.2201G>A (p.Arg734Lys)
|
rs1561692443
|
|
|
NM_004415.4(DSP):c.2204G>A (p.Gly735Asp)
|
|
|
|
NM_004415.4(DSP):c.2204G>T (p.Gly735Val)
|
rs1759154089
|
|
|
NM_004415.4(DSP):c.2208T>C (p.Ser736=)
|
rs2113683195
|
|
|
NM_004415.4(DSP):c.2220C>T (p.Cys740=)
|
|
|
|
NM_004415.4(DSP):c.2223T>G (p.Tyr741Ter)
|
rs2113683217
|
|
|
NM_004415.4(DSP):c.2227C>T (p.Gln743Ter)
|
|
|
|
NM_004415.4(DSP):c.2234A>C (p.Glu745Ala)
|
rs969462343
|
|
|
NM_004415.4(DSP):c.2236del (p.Val746fs)
|
rs1759155407
|
|
|
NM_004415.4(DSP):c.2247A>C (p.Leu749=)
|
rs28763963
|
|
|
NM_004415.4(DSP):c.2250T>G (p.Phe750Leu)
|
|
|
|
NM_004415.4(DSP):c.2259G>A (p.Leu753=)
|
rs1759156637
|
|
|
NM_004415.4(DSP):c.225G>A (p.Leu75=)
|
rs2113653867
|
|
|
NM_004415.4(DSP):c.2268C>T (p.Ile756=)
|
|
|
|
NM_004415.4(DSP):c.226C>T (p.Gln76Ter)
|
rs1554105614
|
|
|
NM_004415.4(DSP):c.2275G>T (p.Val759Phe)
|
|
|
|
NM_004415.4(DSP):c.2276_2277insA (p.Thr760fs)
|
|
|
|
NM_004415.4(DSP):c.2278A>T (p.Thr760Ser)
|
|
|
|
NM_004415.4(DSP):c.2278dup (p.Thr760fs)
|
|
|
|
NM_004415.4(DSP):c.227A>G (p.Gln76Arg)
|
rs1581790962
|
|
|
NM_004415.4(DSP):c.2280A>G (p.Thr760=)
|
rs1375561193
|
|
|
NM_004415.4(DSP):c.2297+11C>T
|
|
|
|
NM_004415.4(DSP):c.2297+14A>C
|
rs1057520278
|
|
|
NM_004415.4(DSP):c.2297+15C>T
|
|
|
|
NM_004415.4(DSP):c.2297+2T>C
|
rs796218194
|
|
|
NM_004415.4(DSP):c.2297+5A>G
|
|
|
|
NM_004415.4(DSP):c.2298-10C>T
|
rs1057522919
|
|
|
NM_004415.4(DSP):c.2298-15T>C
|
rs2113683947
|
|
|
NM_004415.4(DSP):c.2298-1G>C
|
rs1417627909
|
|
|
NM_004415.4(DSP):c.2298-2A>C
|
rs1759176299
|
|
|
NM_004415.4(DSP):c.2298-5T>C
|
rs969832224
|
|
|
NM_004415.4(DSP):c.2298-8C>T
|
rs2113683961
|
|
|
NM_004415.4(DSP):c.2301A>C (p.Leu767Phe)
|
rs1759176601
|
|
|
NM_004415.4(DSP):c.2304C>T (p.Cys768=)
|
rs1441887959
|
|
|
NM_004415.4(DSP):c.2311del (p.Arg771fs)
|
|
|
|
NM_004415.4(DSP):c.2313G>A (p.Arg771=)
|
|
|
|
NM_004415.4(DSP):c.2314G>C (p.Ala772Pro)
|
rs766440842
|
|
|
NM_004415.4(DSP):c.2317C>G (p.Leu773Val)
|
|
|
|
NM_004415.4(DSP):c.231C>T (p.Asn77=)
|
|
|
|
NM_004415.4(DSP):c.2321T>A (p.Leu774His)
|
|
|
|
NM_004415.4(DSP):c.2323C>T (p.Gln775Ter)
|
rs1581809567
|
|
|
NM_004415.4(DSP):c.2327C>G (p.Ala776Gly)
|
rs201700546
|
|
|
NM_004415.4(DSP):c.2328T>G (p.Ala776=)
|
rs2113684036
|
|
|
NM_004415.4(DSP):c.232T>G (p.Cys78Gly)
|
rs1758490063
|
|
|
NM_004415.4(DSP):c.2333T>C (p.Leu778Pro)
|
rs1337668206
|
|
|
NM_004415.4(DSP):c.2338A>G (p.Thr780Ala)
|
|
|
|
NM_004415.4(DSP):c.2344G>T (p.Asp782Tyr)
|
rs2113684062
|
|
|
NM_004415.4(DSP):c.234C>T (p.Cys78=)
|
|
|
|
NM_004415.4(DSP):c.2351T>A (p.Leu784Ter)
|
rs2113684096
|
|
|
NM_004415.4(DSP):c.2360A>C (p.Tyr787Ser)
|
rs778350289
|
|
|
NM_004415.4(DSP):c.2369G>A (p.Arg790Lys)
|
|
|
|
NM_004415.4(DSP):c.2379G>A (p.Glu793=)
|
|
|
|
NM_004415.4(DSP):c.2386A>G (p.Thr796Ala)
|
rs1554107526
|
|
|
NM_004415.4(DSP):c.2388T>A (p.Thr796=)
|
|
|
|
NM_004415.4(DSP):c.2388T>C (p.Thr796=)
|
rs2113684215
|
|
|
NM_004415.4(DSP):c.238G>A (p.Asp80Asn)
|
rs1453492594
|
|
|
NM_004415.4(DSP):c.2390_2393del (p.Val797fs)
|
rs754566092
|
|
|
NM_004415.4(DSP):c.2403G>A (p.Leu801=)
|
rs1759182985
|
|
|
NM_004415.4(DSP):c.2404G>A (p.Asp802Asn)
|
rs770105310
|
|
|
NM_004415.4(DSP):c.2404G>C (p.Asp802His)
|
|
|
|
NM_004415.4(DSP):c.2408A>C (p.Lys803Thr)
|
rs1759183296
|
|
|
NM_004415.4(DSP):c.2411T>C (p.Val804Ala)
|
|
|
|
NM_004415.4(DSP):c.2412G>A (p.Val804=)
|
rs773330932
|
|
|
NM_004415.4(DSP):c.2421C>T (p.Tyr807=)
|
rs2113684259
|
|
|
NM_004415.4(DSP):c.242G>T (p.Cys81Phe)
|
rs140965835
|
|
|
NM_004415.4(DSP):c.2432T>C (p.Leu811Pro)
|
rs869025391
|
|
|
NM_004415.4(DSP):c.2432T>G (p.Leu811Arg)
|
rs869025391
|
|
|
NM_004415.4(DSP):c.2435A>T (p.Lys812Met)
|
rs1268969488
|
|
|
NM_004415.4(DSP):c.2436+10A>G
|
rs1759184963
|
|
|
NM_004415.4(DSP):c.2436+11A>C
|
rs1759185037
|
|
|
NM_004415.4(DSP):c.2436+13C>T
|
|
|
|
NM_004415.4(DSP):c.2436+16A>C
|
|
|
|
NM_004415.4(DSP):c.2436+16A>G
|
rs199555263
|
|
|
NM_004415.4(DSP):c.2436+16A>T
|
rs199555263
|
|
|
NM_004415.4(DSP):c.2436+1G>A
|
rs2113684305
|
|
|
NM_004415.4(DSP):c.2436+6T>C
|
|
|
|
NM_004415.4(DSP):c.2436G>A (p.Lys812=)
|
|
|
|
NM_004415.4(DSP):c.2437-10C>T
|
rs749486113
|
|
|
NM_004415.4(DSP):c.2437-10del
|
rs746870396
|
|
|
NM_004415.4(DSP):c.2437-12_2437-11del
|
rs727502998
|
|
|
NM_004415.4(DSP):c.2437-1G>C
|
rs1057517903
|
|
|
NM_004415.4(DSP):c.2437-6T>C
|
rs2113684940
|
|
|
NM_004415.4(DSP):c.2437-7C>T
|
rs1424310426
|
|
|
NM_004415.4(DSP):c.2437-9A>G
|
|
|
|
NM_004415.4(DSP):c.2437A>C (p.Lys813Gln)
|
rs1395903631
|
|
|
NM_004415.4(DSP):c.2437A>G (p.Lys813Glu)
|
rs1395903631
|
|
|
NM_004415.4(DSP):c.243C>T (p.Cys81=)
|
rs947998304
|
|
|
NM_004415.4(DSP):c.2441T>C (p.Ile814Thr)
|
rs1393048121
|
|
|
NM_004415.4(DSP):c.2442A>C (p.Ile814=)
|
|
|
|
NM_004415.4(DSP):c.2466G>A (p.Lys822=)
|
rs1379441574
|
|
|
NM_004415.4(DSP):c.247_248del (p.Met83fs)
|
|
|
|
NM_004415.4(DSP):c.2487G>A (p.Lys829=)
|
|
|
|
NM_004415.4(DSP):c.2489C>T (p.Thr830Ile)
|
|
|
|
NM_004415.4(DSP):c.248T>C (p.Met83Thr)
|
rs2113653951
|
|
|
NM_004415.4(DSP):c.2490A>C (p.Thr830=)
|
rs2113685097
|
|
|
NM_004415.4(DSP):c.2497C>T (p.Gln833Ter)
|
rs1561693779
|
|
|
NM_004415.4(DSP):c.2498dup (p.Lys834fs)
|
rs1759204244
|
|
|
NM_004415.4(DSP):c.2504C>T (p.Ala835Val)
|
|
|
|
NM_004415.4(DSP):c.2507A>G (p.Gln836Arg)
|
rs1554107616
|
|
|
NM_004415.4(DSP):c.250C>A (p.Arg84=)
|
|
|
|
NM_004415.4(DSP):c.250C>G (p.Arg84Gly)
|
rs768521444
|
|
|
NM_004415.4(DSP):c.250C>T (p.Arg84Ter)
|
rs768521444
|
|
|
NM_004415.4(DSP):c.2511G>C (p.Gln837His)
|
rs2113685122
|
|
|
NM_004415.4(DSP):c.2521C>T (p.Gln841Ter)
|
|
|
|
NM_004415.4(DSP):c.2525C>G (p.Thr842Ser)
|
|
|
|
NM_004415.4(DSP):c.2528C>G (p.Ser843Ter)
|
|
|
|
NM_004415.4(DSP):c.2530C>T (p.Gln844Ter)
|
|
|
|
NM_004415.4(DSP):c.2533C>T (p.Gln845Ter)
|
rs2113685159
|
|
|
NM_004415.4(DSP):c.2538T>A (p.Tyr846Ter)
|
|
|
|
NM_004415.4(DSP):c.2538T>C (p.Tyr846=)
|
rs765837163
|
|
|
NM_004415.4(DSP):c.2540C>G (p.Pro847Arg)
|
rs727504657
|
|
|
NM_004415.4(DSP):c.2543T>C (p.Leu848Pro)
|
|
|
|
NM_004415.4(DSP):c.2548G>A (p.Asp850Asn)
|
rs1554107626
|
|
|
NM_004415.4(DSP):c.2553G>A (p.Leu851=)
|
|
|
|
NM_004415.4(DSP):c.2553G>T (p.Leu851=)
|
rs2113685231
|
|
|
NM_004415.4(DSP):c.2564A>T (p.Lys855Met)
|
rs2113685253
|
|
|
NM_004415.4(DSP):c.2570G>A (p.Gly857Asp)
|
|
|
|
NM_004415.4(DSP):c.2571T>A (p.Gly857=)
|
rs1216646957
|
|
|
NM_004415.4(DSP):c.2572G>A (p.Glu858Lys)
|
rs1759209717
|
|
|
NM_004415.4(DSP):c.2582C>T (p.Thr861Ile)
|
rs1759210367
|
|
|
NM_004415.4(DSP):c.2589G>A (p.Leu863=)
|
|
|
|
NM_004415.4(DSP):c.2596C>A (p.Arg866Ser)
|
rs142429411
|
|
|
NM_004415.4(DSP):c.2597G>T (p.Arg866Leu)
|
|
|
|
NM_004415.4(DSP):c.2602C>T (p.Gln868Ter)
|
rs1060500618
|
|
|
NM_004415.4(DSP):c.2606G>A (p.Arg869Lys)
|
|
|
|
NM_004415.4(DSP):c.2608A>T (p.Ile870Leu)
|
rs1561693971
|
|
|
NM_004415.4(DSP):c.2611G>A (p.Asp871Asn)
|
|
|
|
NM_004415.4(DSP):c.2616dup (p.Gln873fs)
|
|
|
|
NM_004415.4(DSP):c.2617C>T (p.Gln873Ter)
|
rs794728118
|
|
|
NM_004415.4(DSP):c.2622C>A (p.Ile874=)
|
rs751067479
|
|
|
NM_004415.4(DSP):c.2622C>T (p.Ile874=)
|
|
|
|
NM_004415.4(DSP):c.2623G>A (p.Asp875Asn)
|
rs200338012
|
|
|
NM_004415.4(DSP):c.2628T>G (p.Phe876Leu)
|
|
|
|
NM_004415.4(DSP):c.262A>G (p.Ile88Val)
|
rs1581791030
|
|
|
NM_004415.4(DSP):c.2630+10C>T
|
rs757717367
|
|
|
NM_004415.4(DSP):c.2630+15_2630+17del
|
|
|
|
NM_004415.4(DSP):c.2630+18C>A
|
|
|
|
NM_004415.4(DSP):c.2630+5G>C
|
|
|
|
NM_004415.4(DSP):c.2630+7C>T
|
|
|
|
NM_004415.4(DSP):c.2631-10T>A
|
rs369840498
|
|
|
NM_004415.4(DSP):c.2631-10T>C
|
|
|
|
NM_004415.4(DSP):c.2631-12A>G
|
|
|
|
NM_004415.4(DSP):c.2631-13dup
|
rs1455610668
|
|
|
NM_004415.4(DSP):c.2631-14C>G
|
|
|
|
NM_004415.4(DSP):c.2631-14C>T
|
rs1050258732
|
|
|
NM_004415.4(DSP):c.2631-15T>C
|
|
|
|
NM_004415.4(DSP):c.2631-16A>G
|
rs1362454930
|
|
|
NM_004415.4(DSP):c.2631-19T>G
|
|
|
|
NM_004415.4(DSP):c.2631-3C>T
|
rs1041054817
|
|
|
NM_004415.4(DSP):c.2631-3dup
|
rs1759237078
|
|
|
NM_004415.4(DSP):c.2631-4C>G
|
rs1581811524
|
|
|
NM_004415.4(DSP):c.2631-6C>G
|
rs1759237205
|
|
|
NM_004415.4(DSP):c.2631-8C>A
|
|
|
|
NM_004415.4(DSP):c.2631-8C>T
|
|
|
|
NM_004415.4(DSP):c.2631-9T>C
|
|
|
|
NM_004415.4(DSP):c.2637G>A (p.Trp879Ter)
|
rs2113686447
|
|
|
NM_004415.4(DSP):c.2643G>A (p.Leu881=)
|
rs1057520546
|
|
|
NM_004415.4(DSP):c.2644G>T (p.Glu882Ter)
|
rs730880081
|
|
|
NM_004415.4(DSP):c.2650C>G (p.Gln884Glu)
|
|
|
|
NM_004415.4(DSP):c.2650C>T (p.Gln884Ter)
|
rs2113686466
|
|
|
NM_004415.4(DSP):c.2652_2653del (p.Gln884fs)
|
|
|
|
NM_004415.4(DSP):c.2655C>A (p.Ile885=)
|
|
|
|
NM_004415.4(DSP):c.2655del (p.Lys886fs)
|
rs2113686478
|
|
|
NM_004415.4(DSP):c.2662T>C (p.Leu888=)
|
rs994415126
|
|
|
NM_004415.4(DSP):c.2665A>G (p.Arg889Gly)
|
|
|
|
NM_004415.4(DSP):c.2680A>T (p.Asn894Tyr)
|
rs1060500614
|
|
|
NM_004415.4(DSP):c.2685T>C (p.Tyr895=)
|
rs2113686561
|
|
|
NM_004415.4(DSP):c.2695T>C (p.Cys899Arg)
|
rs2113686590
|
|
|
NM_004415.4(DSP):c.2700G>A (p.Lys900=)
|
rs2113686599
|
|
|
NM_004415.4(DSP):c.2700G>T (p.Lys900Asn)
|
|
|
|
NM_004415.4(DSP):c.2703G>A (p.Trp901Ter)
|
|
|
|
NM_004415.4(DSP):c.2703G>T (p.Trp901Cys)
|
rs1057519251
|
|
|
NM_004415.4(DSP):c.2704C>T (p.Leu902Phe)
|
rs1443682154
|
|
|
NM_004415.4(DSP):c.2706_2707del (p.Leu902_Tyr903insTer)
|
rs1759240256
|
|
|
NM_004415.4(DSP):c.2712T>C (p.Asp904=)
|
|
|
|
NM_004415.4(DSP):c.2719C>A (p.Arg907Ser)
|
rs749051278
|
|
|
NM_004415.4(DSP):c.2723G>T (p.Arg908Leu)
|
rs142494121
|
|
|
NM_004415.4(DSP):c.2725C>T (p.Gln909Ter)
|
rs1561694696
|
|
|
NM_004415.4(DSP):c.273+10_273+11insGTGCAG
|
|
|
|
NM_004415.4(DSP):c.273+13T>C
|
|
|
|
NM_004415.4(DSP):c.273+14G>A
|
rs1460404348
|
|
|
NM_004415.4(DSP):c.273+1G>A
|
rs794728106
|
|
|
NM_004415.4(DSP):c.273+7_273+8insC
|
|
|
|
NM_004415.4(DSP):c.273+8T>A
|
|
|
|
NM_004415.4(DSP):c.2735dup (p.Leu912fs)
|
|
|
|
NM_004415.4(DSP):c.273del (p.Glu92fs)
|
rs794728136
|
|
|
NM_004415.4(DSP):c.274-13T>C
|
|
|
|
NM_004415.4(DSP):c.274-18G>C
|
|
|
|
NM_004415.4(DSP):c.274-20A>C
|
|
|
|
NM_004415.4(DSP):c.274-3C>G
|
rs794729638
|
|
|
NM_004415.4(DSP):c.274-7C>G
|
|
|
|
NM_004415.4(DSP):c.274-8_274-7delinsAT
|
rs1561680554
|
|
|
NM_004415.4(DSP):c.274-9T>A
|
rs986399667
|
|
|
NM_004415.4(DSP):c.2744T>A (p.Met915Lys)
|
rs750869761
|
|
|
NM_004415.4(DSP):c.2748A>G (p.Lys916=)
|
|
|
|
NM_004415.4(DSP):c.2758T>C (p.Ser920Pro)
|
rs373804924
|
|
|
NM_004415.4(DSP):c.2759C>T (p.Ser920Phe)
|
rs1481929065
|
|
|
NM_004415.4(DSP):c.2765C>T (p.Thr922Ile)
|
rs755099716
|
|
|
NM_004415.4(DSP):c.2769C>T (p.Val923=)
|
rs767744438
|
|
|
NM_004415.4(DSP):c.276A>G (p.Glu92=)
|
|
|
|
NM_004415.4(DSP):c.2770_2771dup (p.Met924fs)
|
|
|
|
NM_004415.4(DSP):c.2772G>T (p.Met924Ile)
|
|
|
|
NM_004415.4(DSP):c.2775G>T (p.Arg925=)
|
rs2113686798
|
|
|
NM_004415.4(DSP):c.2777T>C (p.Phe926Ser)
|
|
|
|
NM_004415.4(DSP):c.277T>C (p.Leu93=)
|
rs1561680562
|
|
|
NM_004415.4(DSP):c.2784_2785del (p.Asn928fs)
|
|
|
|
NM_004415.4(DSP):c.2789A>C (p.Gln930Pro)
|
|
|
|
NM_004415.4(DSP):c.2790G>C (p.Gln930His)
|
rs2113686814
|
|
|
NM_004415.4(DSP):c.2793+1G>T
|
rs1554107741
|
|
|
NM_004415.4(DSP):c.2793+8C>T
|
|
|
|
NM_004415.4(DSP):c.2794-12C>T
|
rs1759258114
|
|
|
NM_004415.4(DSP):c.2794-13A>T
|
|
|
|
NM_004415.4(DSP):c.2794-17T>C
|
|
|
|
NM_004415.4(DSP):c.2794-17T>G
|
|
|
|
NM_004415.4(DSP):c.2794-1G>A
|
rs1759258675
|
|
|
NM_004415.4(DSP):c.2794-20A>G
|
|
|
|
NM_004415.4(DSP):c.2794-7T>C
|
rs397516926
|
|
|
NM_004415.4(DSP):c.2794-7T>G
|
rs397516926
|
|
|
NM_004415.4(DSP):c.2799G>A (p.Leu933=)
|
|
|
|
NM_004415.4(DSP):c.279G>C (p.Leu93Phe)
|
rs1447901875
|
|
|
NM_004415.4(DSP):c.2809A>G (p.Ile937Val)
|
rs1287292518
|
|
|
NM_004415.4(DSP):c.2818A>G (p.Lys940Glu)
|
rs2113687560
|
|
|
NM_004415.4(DSP):c.2821C>G (p.Arg941Gly)
|
rs730880082
|
|
|
NM_004415.4(DSP):c.2821C>T (p.Arg941Ter)
|
rs730880082
|
|
|
NM_004415.4(DSP):c.2825A>T (p.Asp942Val)
|
|
|
|
NM_004415.4(DSP):c.2832del (p.Glu945fs)
|
rs2113687612
|
|
|
NM_004415.4(DSP):c.2834_2835del (p.Glu945fs)
|
rs2113687617
|
|
|
NM_004415.4(DSP):c.2842del (p.Gln948fs)
|
|
|
|
NM_004415.4(DSP):c.2847_2848delinsT (p.Lys949fs)
|
|
|
|
NM_004415.4(DSP):c.2848A>G (p.Ile950Val)
|
|
|
|
NM_004415.4(DSP):c.2848del (p.Ile950fs)
|
rs397516927
|
|
|
NM_004415.4(DSP):c.2848dup (p.Ile950fs)
|
rs397516927
|
|
|
NM_004415.4(DSP):c.284A>T (p.Tyr95Phe)
|
|
|
|
NM_004415.4(DSP):c.2863G>A (p.Ala955Thr)
|
rs190421916
|
|
|
NM_004415.4(DSP):c.2865C>A (p.Ala955=)
|
rs2113687754
|
|
|
NM_004415.4(DSP):c.2867A>G (p.Asn956Ser)
|
|
|
|
NM_004415.4(DSP):c.286G>A (p.Gly96Arg)
|
rs2113657461
|
|
|
NM_004415.4(DSP):c.2870_2874del (p.Asn956_Ser957insTer)
|
rs794728139
|
|
|
NM_004415.4(DSP):c.2877+1G>A
|
rs2113687794
|
|
|
NM_004415.4(DSP):c.2877+20A>C
|
|
|
|
NM_004415.4(DSP):c.2877+2T>C
|
rs2113687807
|
|
|
NM_004415.4(DSP):c.2877+6T>A
|
rs1331983690
|
|
|
NM_004415.4(DSP):c.2878-12A>G
|
rs765050348
|
|
|
NM_004415.4(DSP):c.2878-14T>G
|
|
|
|
NM_004415.4(DSP):c.2878-17dup
|
rs1440609253
|
|
|
NM_004415.4(DSP):c.2878-19A>T
|
|
|
|
NM_004415.4(DSP):c.2878-9A>G
|
rs2113688819
|
|
|
NM_004415.4(DSP):c.2879A>G (p.Asp960Gly)
|
|
|
|
NM_004415.4(DSP):c.2887C>T (p.Leu963Phe)
|
rs779931043
|
|
|
NM_004415.4(DSP):c.2890C>T (p.Gln964Ter)
|
rs2113688859
|
|
|
NM_004415.4(DSP):c.2891A>T (p.Gln964Leu)
|
|
|
|
NM_004415.4(DSP):c.2892G>A (p.Gln964=)
|
rs746675465
|
|
|
NM_004415.4(DSP):c.2893C>G (p.Leu965Val)
|
rs1239813518
|
|
|
NM_004415.4(DSP):c.2894T>C (p.Leu965Pro)
|
rs1581813405
|
|
|
NM_004415.4(DSP):c.2898C>T (p.Ala966=)
|
rs754665672
|
|
|
NM_004415.4(DSP):c.289G>A (p.Asp97Asn)
|
|
|
|
NM_004415.4(DSP):c.2903dup (p.Tyr968Ter)
|
rs2113688911
|
|
|
NM_004415.4(DSP):c.2904C>T (p.Tyr968=)
|
rs1241595798
|
|
|
NM_004415.4(DSP):c.2917G>T (p.Glu973Ter)
|
|
|
|
NM_004415.4(DSP):c.2920del (p.Thr974fs)
|
rs727505260
|
|
|
NM_004415.4(DSP):c.2923_2924del (p.Leu975fs)
|
|
|
|
NM_004415.4(DSP):c.292G>T (p.Gly98Ter)
|
|
|
|
NM_004415.4(DSP):c.2932A>G (p.Ile978Val)
|
rs780823789
|
|
|
NM_004415.4(DSP):c.2936C>G (p.Pro979Arg)
|
rs1759288530
|
|
|
NM_004415.4(DSP):c.2947_2948del (p.Thr983fs)
|
rs1554107839
|
|
|
NM_004415.4(DSP):c.2948C>T (p.Thr983Ile)
|
rs1040862892
|
|
|
NM_004415.4(DSP):c.2950A>G (p.Met984Val)
|
rs868110541
|
|
|
NM_004415.4(DSP):c.2951T>C (p.Met984Thr)
|
|
|
|
NM_004415.4(DSP):c.2959T>C (p.Ser987Pro)
|
rs397516929
|
|
|
NM_004415.4(DSP):c.2963C>T (p.Pro988Leu)
|
rs2113689067
|
|
|
NM_004415.4(DSP):c.2980dup (p.Gln994fs)
|
rs1581813564
|
|
|
NM_004415.4(DSP):c.2985+7A>G
|
|
|
|
NM_004415.4(DSP):c.2985+8T>C
|
rs776809248
|
|
|
NM_004415.4(DSP):c.2985+9G>A
|
rs1759293135
|
|
|
NM_004415.4(DSP):c.2986-13_2986-10del
|
|
|
|
NM_004415.4(DSP):c.2986-15T>C
|
|
|
|
NM_004415.4(DSP):c.2986-18T>C
|
|
|
|
NM_004415.4(DSP):c.2986-3A>C
|
|
|
|
NM_004415.4(DSP):c.2986G>T (p.Ala996Ser)
|
rs1254054471
|
|
|
NM_004415.4(DSP):c.2990C>T (p.Ala997Val)
|
|
|
|
NM_004415.4(DSP):c.2998_3012del (p.His1000_Ile1004del)
|
|
|
|
NM_004415.4(DSP):c.3000T>C (p.His1000=)
|
|
|
|
NM_004415.4(DSP):c.3005G>A (p.Arg1002Gln)
|
rs371234425
|
|
|
NM_004415.4(DSP):c.3005G>C (p.Arg1002Pro)
|
rs371234425
|
|
|
NM_004415.4(DSP):c.3006G>A (p.Arg1002=)
|
rs1759317112
|
|
|
NM_004415.4(DSP):c.3010A>G (p.Ile1004Val)
|
rs1561696251
|
|
|
NM_004415.4(DSP):c.3018A>G (p.Leu1006=)
|
rs375412541
|
|
|
NM_004415.4(DSP):c.3018dup (p.Leu1007fs)
|
|
|
|
NM_004415.4(DSP):c.3019C>T (p.Leu1007Phe)
|
rs1018173692
|
|
|
NM_004415.4(DSP):c.3023C>T (p.Thr1008Ile)
|
rs1334187363
|
|
|
NM_004415.4(DSP):c.3026G>T (p.Arg1009Ile)
|
rs1759318084
|
|
|
NM_004415.4(DSP):c.3038A>G (p.Tyr1013Cys)
|
|
|
|
NM_004415.4(DSP):c.3044_3047dup (p.Phe1016fs)
|
rs1554107916
|
|
|
NM_004415.4(DSP):c.3045G>A (p.Arg1015=)
|
|
|
|
NM_004415.4(DSP):c.3045del (p.Arg1015fs)
|
rs1409693501
|
|
|
NM_004415.4(DSP):c.3046T>G (p.Phe1016Val)
|
rs1561696335
|
|
|
NM_004415.4(DSP):c.3048C>T (p.Phe1016=)
|
rs1299556752
|
|
|
NM_004415.4(DSP):c.304A>C (p.Thr102Pro)
|
|
|
|
NM_004415.4(DSP):c.3064_3065del (p.Lys1022fs)
|
|
|
|
NM_004415.4(DSP):c.3068G>A (p.Ser1023Asn)
|
rs2113690096
|
|
|
NM_004415.4(DSP):c.3070T>G (p.Leu1024Val)
|
rs1474315262
|
|
|
NM_004415.4(DSP):c.307C>G (p.Arg103Gly)
|
|
|
|
NM_004415.4(DSP):c.307C>T (p.Arg103Trp)
|
rs375028675
|
|
|
NM_004415.4(DSP):c.3080T>C (p.Leu1027Pro)
|
|
|
|
NM_004415.4(DSP):c.3084+10A>G
|
rs1581814315
|
|
|
NM_004415.4(DSP):c.3084+12T>G
|
|
|
|
NM_004415.4(DSP):c.3084+20C>T
|
|
|
|
NM_004415.4(DSP):c.3085-10C>G
|
|
|
|
NM_004415.4(DSP):c.3085-13T>C
|
rs2113690976
|
|
|
NM_004415.4(DSP):c.3085-20T>A
|
|
|
|
NM_004415.4(DSP):c.3085-20T>G
|
|
|
|
NM_004415.4(DSP):c.3085-4A>G
|
|
|
|
NM_004415.4(DSP):c.3094del (p.Thr1032fs)
|
rs2113690997
|
|
|
NM_004415.4(DSP):c.30G>T (p.Arg10=)
|
rs1581777241
|
|
|
NM_004415.4(DSP):c.3102C>G (p.Ile1034Met)
|
rs569974617
|
|
|
NM_004415.4(DSP):c.3103G>A (p.Glu1035Lys)
|
rs760307890
|
|
|
NM_004415.4(DSP):c.3110del (p.Leu1037fs)
|
|
|
|
NM_004415.4(DSP):c.3126del (p.Arg1042fs)
|
|
|
|
NM_004415.4(DSP):c.3127C>T (p.Leu1043=)
|
rs1581814977
|
|
|
NM_004415.4(DSP):c.3131C>T (p.Ala1044Val)
|
|
|
|
NM_004415.4(DSP):c.3133C>T (p.Arg1045Ter)
|
rs1554108012
|
|
|
NM_004415.4(DSP):c.3134G>C (p.Arg1045Pro)
|
rs374263890
|
|
|
NM_004415.4(DSP):c.3137A>T (p.Asp1046Val)
|
rs752077454
|
|
|
NM_004415.4(DSP):c.3138T>C (p.Asp1046=)
|
rs879254347
|
|
|
NM_004415.4(DSP):c.313C>T (p.Arg105Ter)
|
rs1435125402
|
|
|
NM_004415.4(DSP):c.3140C>T (p.Ala1047Val)
|
rs397516931
|
|
|
NM_004415.4(DSP):c.3144C>G (p.Asn1048Lys)
|
|
|
|
NM_004415.4(DSP):c.3157A>G (p.Asn1053Asp)
|
|
|
|
NM_004415.4(DSP):c.3160_3169del (p.Lys1054fs)
|
rs397516932
|
|
|
NM_004415.4(DSP):c.3162G>A (p.Lys1054=)
|
|
|
|
NM_004415.4(DSP):c.3163A>G (p.Asn1055Asp)
|
|
|
|
NM_004415.4(DSP):c.3165del (p.Asn1055fs)
|
rs2113691213
|
|
|
NM_004415.4(DSP):c.3167A>G (p.Lys1056Arg)
|
|
|
|
NM_004415.4(DSP):c.3184C>A (p.Leu1062Met)
|
rs2113691218
|
|
|
NM_004415.4(DSP):c.3186G>T (p.Leu1062=)
|
|
|
|
NM_004415.4(DSP):c.3190A>G (p.Lys1064Glu)
|
rs1383448057
|
|
|
NM_004415.4(DSP):c.3192dup (p.Tyr1065fs)
|
rs778930865
|
|
|
NM_004415.4(DSP):c.3195C>G (p.Tyr1065Ter)
|
rs886039178
|
|
|
NM_004415.4(DSP):c.31A>G (p.Ile11Val)
|
|
|
|
NM_004415.4(DSP):c.3203_3204del (p.Glu1068fs)
|
|
|
|
NM_004415.4(DSP):c.320T>A (p.Leu107Ter)
|
rs2113657559
|
|
|
NM_004415.4(DSP):c.3211C>T (p.Gln1071Ter)
|
|
|
|
NM_004415.4(DSP):c.3230C>T (p.Ala1077Val)
|
rs1257696096
|
|
|
NM_004415.4(DSP):c.3231G>C (p.Ala1077=)
|
|
|
|
NM_004415.4(DSP):c.3238G>A (p.Glu1080Lys)
|
rs1759345464
|
|
|
NM_004415.4(DSP):c.3241G>T (p.Glu1081Ter)
|
rs1554108050
|
|
|
NM_004415.4(DSP):c.3243G>T (p.Glu1081Asp)
|
|
|
|
NM_004415.4(DSP):c.3244C>T (p.Leu1082=)
|
|
|
|
NM_004415.4(DSP):c.3253C>T (p.Gln1085Ter)
|
rs1759345923
|
|
|
NM_004415.4(DSP):c.3259G>A (p.Glu1087Lys)
|
rs1561697118
|
|
|
NM_004415.4(DSP):c.3261G>A (p.Glu1087=)
|
rs1045685133
|
|
|
NM_004415.4(DSP):c.3262C>T (p.Leu1088=)
|
|
|
|
NM_004415.4(DSP):c.3263T>C (p.Leu1088Pro)
|
|
|
|
NM_004415.4(DSP):c.3264G>T (p.Leu1088=)
|
|
|
|
NM_004415.4(DSP):c.3276G>A (p.Ser1092=)
|
rs202057409
|
|
|
NM_004415.4(DSP):c.3276G>C (p.Ser1092=)
|
rs202057409
|
|
|
NM_004415.4(DSP):c.3282G>C (p.Lys1094Asn)
|
rs2491080
|
|
|
NM_004415.4(DSP):c.328T>C (p.Cys110Arg)
|
rs1554105823
|
|
|
NM_004415.4(DSP):c.3290_3291dup (p.Asp1098Ter)
|
rs1561697181
|
|
|
NM_004415.4(DSP):c.3296A>G (p.Lys1099Arg)
|
|
|
|
NM_004415.4(DSP):c.3298T>C (p.Cys1100Arg)
|
rs757539604
|
|
|
NM_004415.4(DSP):c.3298T>G (p.Cys1100Gly)
|
rs757539604
|
|
|
NM_004415.4(DSP):c.329_330delinsAA (p.Cys110Ter)
|
rs1561680649
|
|
|
NM_004415.4(DSP):c.3306C>T (p.Gly1102=)
|
|
|
|
NM_004415.4(DSP):c.330_334del (p.Phe111fs)
|
rs1581792793
|
|
|
NM_004415.4(DSP):c.3310A>C (p.Ile1104Leu)
|
|
|
|
NM_004415.4(DSP):c.3310A>T (p.Ile1104Leu)
|
rs2113691466
|
|
|
NM_004415.4(DSP):c.3312A>G (p.Ile1104Met)
|
|
|
|
NM_004415.4(DSP):c.3315A>G (p.Lys1105=)
|
rs1581815327
|
|
|
NM_004415.4(DSP):c.3318A>G (p.Glu1106=)
|
rs2113691480
|
|
|
NM_004415.4(DSP):c.3319C>T (p.Leu1107Phe)
|
rs1759348638
|
|
|
NM_004415.4(DSP):c.3321C>G (p.Leu1107=)
|
|
|
|
NM_004415.4(DSP):c.3321C>T (p.Leu1107=)
|
|
|
|
NM_004415.4(DSP):c.3325G>A (p.Glu1109Lys)
|
rs367763339
|
|
|
NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter)
|
rs746877365
|
|
|
NM_004415.4(DSP):c.3338del (p.Arg1113fs)
|
rs2113691528
|
|
|
NM_004415.4(DSP):c.3339A>C (p.Arg1113=)
|
|
|
|
NM_004415.4(DSP):c.3340C>A (p.Leu1114Met)
|
|
|
|
NM_004415.4(DSP):c.3344C>T (p.Thr1115Ile)
|
rs1393151720
|
|
|
NM_004415.4(DSP):c.3346_3354del (p.Tyr1116_Ile1118del)
|
|
|
|
NM_004415.4(DSP):c.3346del (p.Tyr1116fs)
|
rs2113691557
|
|
|
NM_004415.4(DSP):c.3348T>A (p.Tyr1116Ter)
|
rs772646601
|
|
|
NM_004415.4(DSP):c.3351G>A (p.Glu1117=)
|
rs1759350245
|
|
|
NM_004415.4(DSP):c.3366G>A (p.Lys1122=)
|
rs1561697279
|
|
|
NM_004415.4(DSP):c.3368GAA[2] (p.Arg1125del)
|
rs1405952840
|
|
|
NM_004415.4(DSP):c.3368_3372del (p.Arg1123fs)
|
|
|
|
NM_004415.4(DSP):c.3371G>A (p.Arg1124Lys)
|
|
|
|
NM_004415.4(DSP):c.3389A>G (p.Asp1130Gly)
|
rs886061746
|
|
|
NM_004415.4(DSP):c.3393A>G (p.Arg1131=)
|
|
|
|
NM_004415.4(DSP):c.3399C>G (p.Asp1133Glu)
|
|
|
|
NM_004415.4(DSP):c.3401A>C (p.Gln1134Pro)
|
rs2113691687
|
|
|
NM_004415.4(DSP):c.3402A>G (p.Gln1134=)
|
|
|
|
NM_004415.4(DSP):c.3404A>C (p.Gln1135Pro)
|
rs754250788
|
|
|
NM_004415.4(DSP):c.3408_3409delinsAG (p.Asn1137Asp)
|
rs1759352206
|
|
|
NM_004415.4(DSP):c.3414C>T (p.Asp1138=)
|
|
|
|
NM_004415.4(DSP):c.3415_3417delinsG (p.Tyr1139fs)
|
rs1064794616
|
|
|
NM_004415.4(DSP):c.3423A>C (p.Gln1141His)
|
rs759288257
|
|
|
NM_004415.4(DSP):c.3424C>T (p.Leu1142=)
|
rs779251147
|
|
|
NM_004415.4(DSP):c.3434del (p.Ala1145fs)
|
rs1581815603
|
|
|
NM_004415.4(DSP):c.3439C>T (p.Gln1147Ter)
|
rs2113691766
|
|
|
NM_004415.4(DSP):c.3449del (p.Lys1150fs)
|
rs2113691774
|
|
|
NM_004415.4(DSP):c.3456C>A (p.Asn1152Lys)
|
|
|
|
NM_004415.4(DSP):c.3458T>G (p.Leu1153Arg)
|
rs1554108085
|
|
|
NM_004415.4(DSP):c.3462T>A (p.Gly1154=)
|
rs1554108086
|
|
|
NM_004415.4(DSP):c.3465G>A (p.Trp1155Ter)
|
rs1759354150
|
|
|
NM_004415.4(DSP):c.3465G>C (p.Trp1155Cys)
|
rs1759354150
|
|
|
NM_004415.4(DSP):c.3466C>T (p.Gln1156Ter)
|
rs1581815654
|
|
|
NM_004415.4(DSP):c.3468G>A (p.Gln1156=)
|
rs947354271
|
|
|
NM_004415.4(DSP):c.3469A>C (p.Lys1157Gln)
|
rs1759354483
|
|
|
NM_004415.4(DSP):c.346G>A (p.Asp116Asn)
|
|
|
|
NM_004415.4(DSP):c.3474dup (p.Glu1159fs)
|
rs727503000
|
|
|
NM_004415.4(DSP):c.3480T>C (p.Ser1160=)
|
|
|
|
NM_004415.4(DSP):c.3485A>C (p.Lys1162Thr)
|
|
|
|
NM_004415.4(DSP):c.348C>T (p.Asp116=)
|
|
|
|
NM_004415.4(DSP):c.3492C>G (p.Ile1164Met)
|
rs1561697488
|
|
|
NM_004415.4(DSP):c.3492_3498del (p.Lys1165fs)
|
|
|
|
NM_004415.4(DSP):c.3494dup (p.Glu1166fs)
|
rs2113691887
|
|
|
NM_004415.4(DSP):c.3497A>G (p.Glu1166Gly)
|
rs2113691892
|
|
|
NM_004415.4(DSP):c.3499_3501del (p.Lys1167del)
|
rs1554108091
|
|
|
NM_004415.4(DSP):c.3501G>A (p.Lys1167=)
|
|
|
|
NM_004415.4(DSP):c.3504G>A (p.Glu1168=)
|
|
|
|
NM_004415.4(DSP):c.3504G>T (p.Glu1168Asp)
|
rs1490403808
|
|
|
NM_004415.4(DSP):c.3505T>A (p.Tyr1169Asn)
|
rs2113691917
|
|
|
NM_004415.4(DSP):c.3508G>A (p.Glu1170Lys)
|
rs139582608
|
|
|
NM_004415.4(DSP):c.3508G>C (p.Glu1170Gln)
|
|
|
|
NM_004415.4(DSP):c.350A>G (p.Gln117Arg)
|
|
|
|
NM_004415.4(DSP):c.3512T>C (p.Ile1171Thr)
|
rs762449180
|
|
|
NM_004415.4(DSP):c.3517del (p.Arg1173fs)
|
|
|
|
NM_004415.4(DSP):c.3518G>T (p.Arg1173Met)
|
|
|
|
NM_004415.4(DSP):c.3522G>A (p.Leu1174=)
|
|
|
|
NM_004415.4(DSP):c.3524G>A (p.Arg1175Lys)
|
rs1759357066
|
|
|
NM_004415.4(DSP):c.3526G>A (p.Val1176Ile)
|
|
|
|
NM_004415.4(DSP):c.3526del (p.Val1176fs)
|
rs727505271
|
|
|
NM_004415.4(DSP):c.3527T>C (p.Val1176Ala)
|
rs1759357469
|
|
|
NM_004415.4(DSP):c.3529del (p.Leu1177fs)
|
|
|
|
NM_004415.4(DSP):c.3535C>T (p.Gln1179Ter)
|
rs1759357763
|
|
|
NM_004415.4(DSP):c.3538G>A (p.Glu1180Lys)
|
|
|
|
NM_004415.4(DSP):c.3541G>T (p.Glu1181Ter)
|
|
|
|
NM_004415.4(DSP):c.3546C>A (p.Gly1182=)
|
rs1355395147
|
|
|
NM_004415.4(DSP):c.3548C>T (p.Thr1183Ile)
|
|
|
|
NM_004415.4(DSP):c.3555G>A (p.Lys1185=)
|
|
|
|
NM_004415.4(DSP):c.3555G>C (p.Lys1185Asn)
|
|
|
|
NM_004415.4(DSP):c.3559G>A (p.Glu1187Lys)
|
rs1759359375
|
|
|
NM_004415.4(DSP):c.3564T>A (p.Tyr1188Ter)
|
rs2113692122
|
|
|
NM_004415.4(DSP):c.3564T>C (p.Tyr1188=)
|
rs2113692122
|
|
|
NM_004415.4(DSP):c.3565G>A (p.Glu1189Lys)
|
rs866149042
|
|
|
NM_004415.4(DSP):c.3571G>T (p.Glu1191Ter)
|
rs1759359916
|
|
|
NM_004415.4(DSP):c.3573G>C (p.Glu1191Asp)
|
|
|
|
NM_004415.4(DSP):c.3573G>T (p.Glu1191Asp)
|
rs750659892
|
|
|
NM_004415.4(DSP):c.3574C>G (p.Leu1192Val)
|
rs1554108118
|
|
|
NM_004415.4(DSP):c.3578C>A (p.Ala1193Glu)
|
|
|
|
NM_004415.4(DSP):c.3578_3579insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATGAGCTGGC (p.Ala1193_Lys1194insAlaGlyArgGlyGlySerArgLeuTer)
|
rs2113692133
|
|
|
NM_004415.4(DSP):c.3582G>A (p.Lys1194=)
|
|
|
|
NM_004415.4(DSP):c.3591C>T (p.Asn1197=)
|
|
|
|
NM_004415.4(DSP):c.3596A>G (p.Tyr1199Cys)
|
|
|
|
NM_004415.4(DSP):c.35A>G (p.Asn12Ser)
|
rs1239489755
|
|
|
NM_004415.4(DSP):c.3606G>A (p.Glu1202=)
|
|
|
|
NM_004415.4(DSP):c.3608T>C (p.Met1203Thr)
|
|
|
|
NM_004415.4(DSP):c.3608_3609insAC (p.Met1203fs)
|
rs2113692208
|
|
|
NM_004415.4(DSP):c.3609_3610delinsAG (p.Met1203_Ser1204delinsIleGly)
|
rs1759361326
|
|
|
NM_004415.4(DSP):c.3616T>G (p.Leu1206Val)
|
rs151115778
|
|
|
NM_004415.4(DSP):c.3625A>C (p.Lys1209Gln)
|
rs1283110287
|
|
|
NM_004415.4(DSP):c.3629A>G (p.Tyr1210Cys)
|
|
|
|
NM_004415.4(DSP):c.3630T>A (p.Tyr1210Ter)
|
rs727503001
|
|
|
NM_004415.4(DSP):c.3639_3640del (p.Glu1213fs)
|
rs2113692271
|
|
|
NM_004415.4(DSP):c.3640A>G (p.Ile1214Val)
|
|
|
|
NM_004415.4(DSP):c.3654G>C (p.Lys1218Asn)
|
|
|
|
NM_004415.4(DSP):c.3663C>T (p.Ile1221=)
|
rs2113692351
|
|
|
NM_004415.4(DSP):c.3667G>A (p.Glu1223Lys)
|
|
|
|
NM_004415.4(DSP):c.3676A>G (p.Met1226Val)
|
|
|
|
NM_004415.4(DSP):c.3679C>T (p.Gln1227Ter)
|
rs1581816089
|
|
|
NM_004415.4(DSP):c.3680A>C (p.Gln1227Pro)
|
rs1458557680
|
|
|
NM_004415.4(DSP):c.3684A>T (p.Lys1228Asn)
|
|
|
|
NM_004415.4(DSP):c.3687_3689dup (p.Glu1229dup)
|
rs1561697838
|
|
|
NM_004415.4(DSP):c.3692A>C (p.Asp1231Ala)
|
rs1581816117
|
|
|
NM_004415.4(DSP):c.3696C>G (p.Ser1232=)
|
rs141120358
|
|
|
NM_004415.4(DSP):c.3696C>T (p.Ser1232=)
|
|
|
|
NM_004415.4(DSP):c.36C>T (p.Asn12=)
|
rs886061744
|
|
|
NM_004415.4(DSP):c.370T>C (p.Leu124=)
|
rs2113657689
|
|
|
NM_004415.4(DSP):c.3712C>A (p.Gln1238Lys)
|
rs767519046
|
|
|
NM_004415.4(DSP):c.3712C>G (p.Gln1238Glu)
|
rs767519046
|
|
|
NM_004415.4(DSP):c.3714G>A (p.Gln1238=)
|
rs2113692461
|
|
|
NM_004415.4(DSP):c.3718G>C (p.Asp1240His)
|
rs1216670261
|
|
|
NM_004415.4(DSP):c.3720T>A (p.Asp1240Glu)
|
rs1759365530
|
|
|
NM_004415.4(DSP):c.3725T>C (p.Leu1242Pro)
|
rs1759365693
|
|
|
NM_004415.4(DSP):c.372G>A (p.Leu124=)
|
rs2113657693
|
|
|
NM_004415.4(DSP):c.3730A>G (p.Arg1244Gly)
|
rs2113692494
|
|
|
NM_004415.4(DSP):c.3733del (p.Glu1245fs)
|
rs794728142
|
|
|
NM_004415.4(DSP):c.3735_3741dup (p.Asp1248fs)
|
rs1554108152
|
|
|
NM_004415.4(DSP):c.3739C>T (p.Arg1247Ter)
|
rs1413961070
|
|
|
NM_004415.4(DSP):c.3742G>C (p.Asp1248His)
|
rs989348634
|
|
|
NM_004415.4(DSP):c.3743A>C (p.Asp1248Ala)
|
rs1276847644
|
|
|
NM_004415.4(DSP):c.3750G>A (p.Lys1250=)
|
rs2113692538
|
|
|
NM_004415.4(DSP):c.3757del (p.Ile1253fs)
|
rs2113692562
|
|
|
NM_004415.4(DSP):c.3762C>G (p.Val1254=)
|
rs2113692582
|
|
|
NM_004415.4(DSP):c.3763A>G (p.Arg1255Gly)
|
rs1477870659
|
|
|
NM_004415.4(DSP):c.3764G>A (p.Arg1255Lys)
|
rs777407386
|
|
|
NM_004415.4(DSP):c.3764G>C (p.Arg1255Thr)
|
|
|
|
NM_004415.4(DSP):c.3770A>G (p.Asn1257Ser)
|
rs1561697968
|
|
|
NM_004415.4(DSP):c.3775A>G (p.Ser1259Gly)
|
rs770172294
|
|
|
NM_004415.4(DSP):c.3778A>T (p.Ile1260Phe)
|
|
|
|
NM_004415.4(DSP):c.3780C>T (p.Ile1260=)
|
rs2113692617
|
|
|
NM_004415.4(DSP):c.3784C>T (p.Gln1262Ter)
|
rs2113692628
|
|
|
NM_004415.4(DSP):c.3788C>A (p.Ala1263Asp)
|
rs1359308406
|
|
|
NM_004415.4(DSP):c.3788C>T (p.Ala1263Val)
|
|
|
|
NM_004415.4(DSP):c.378A>G (p.Arg126=)
|
rs1758561693
|
|
|
NM_004415.4(DSP):c.3792T>C (p.Thr1264=)
|
rs766726853
|
|
|
NM_004415.4(DSP):c.3793G>T (p.Glu1265Ter)
|
rs1554108172
|
|
|
NM_004415.4(DSP):c.3794A>G (p.Glu1265Gly)
|
|
|
|
NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter)
|
rs121912997
|
|
|
NM_004415.4(DSP):c.37A>G (p.Thr13Ala)
|
|
|
|
NM_004415.4(DSP):c.3805C>A (p.Arg1269=)
|
rs767643821
|
|
|
NM_004415.4(DSP):c.3806G>A (p.Arg1269Gln)
|
rs876657795
|
|
|
NM_004415.4(DSP):c.3811G>A (p.Glu1271Lys)
|
rs2113692719
|
|
|
NM_004415.4(DSP):c.3815A>G (p.Glu1272Gly)
|
|
|
|
NM_004415.4(DSP):c.3820G>C (p.Ala1274Pro)
|
rs1285435504
|
|
|
NM_004415.4(DSP):c.3820G>T (p.Ala1274Ser)
|
rs1285435504
|
|
|
NM_004415.4(DSP):c.3826C>T (p.Gln1276Ter)
|
|
|
|
NM_004415.4(DSP):c.3828G>A (p.Gln1276=)
|
|
|
|
NM_004415.4(DSP):c.3829C>T (p.Gln1277Ter)
|
rs397516933
|
|
|
NM_004415.4(DSP):c.3842G>A (p.Gly1281Asp)
|
rs757029634
|
|
|
NM_004415.4(DSP):c.3845C>T (p.Ser1282Phe)
|
rs778780656
|
|
|
NM_004415.4(DSP):c.3846T>C (p.Ser1282=)
|
rs2113692799
|
|
|
NM_004415.4(DSP):c.3849G>A (p.Glu1283=)
|
rs2113692806
|
|
|
NM_004415.4(DSP):c.384dup (p.Arg129fs)
|
|
|
|
NM_004415.4(DSP):c.3850del (p.Glu1283_Ile1284insTer)
|
|
|
|
NM_004415.4(DSP):c.3854T>G (p.Met1285Arg)
|
rs1759372184
|
|
|
NM_004415.4(DSP):c.3856C>T (p.Gln1286Ter)
|
|
|
|
NM_004415.4(DSP):c.3858_3859insGG (p.Lys1287fs)
|
|
|
|
NM_004415.4(DSP):c.3864G>T (p.Lys1288Asn)
|
rs768166626
|
|
|
NM_004415.4(DSP):c.3870T>C (p.His1290=)
|
|
|
|
NM_004415.4(DSP):c.3880G>A (p.Glu1294Lys)
|
|
|
|
NM_004415.4(DSP):c.3894C>A (p.Val1298=)
|
rs1581816575
|
|
|
NM_004415.4(DSP):c.3896T>C (p.Met1299Thr)
|
rs1432542467
|
|
|
NM_004415.4(DSP):c.3897G>C (p.Met1299Ile)
|
rs2113692906
|
|
|
NM_004415.4(DSP):c.3899A>G (p.Gln1300Arg)
|
rs1060500619
|
|
|
NM_004415.4(DSP):c.389A>G (p.Gln130Arg)
|
|
|
|
NM_004415.4(DSP):c.3902A>T (p.Gln1301Leu)
|
rs2113692916
|
|
|
NM_004415.4(DSP):c.3905G>T (p.Arg1302Leu)
|
|
|
|
NM_004415.4(DSP):c.3909_3921del (p.Glu1304fs)
|
|
|
|
NM_004415.4(DSP):c.3918T>C (p.Asn1306=)
|
rs761749643
|
|
|
NM_004415.4(DSP):c.3919_3920delinsTT (p.Ala1307Phe)
|
|
|
|
NM_004415.4(DSP):c.3923G>T (p.Arg1308Leu)
|
rs184154918
|
|
|
NM_004415.4(DSP):c.3928A>T (p.Lys1310Ter)
|
|
|
|
NM_004415.4(DSP):c.3932A>C (p.Gln1311Pro)
|
|
|
|
NM_004415.4(DSP):c.3934T>C (p.Ser1312Pro)
|
|
|
|
NM_004415.4(DSP):c.394G>A (p.Gly132Ser)
|
rs1064796573
|
|
|
NM_004415.4(DSP):c.3953A>G (p.Lys1318Arg)
|
|
|
|
NM_004415.4(DSP):c.3956C>G (p.Thr1319Ser)
|
rs138599871
|
|
|
NM_004415.4(DSP):c.3956C>T (p.Thr1319Ile)
|
rs138599871
|
|
|
NM_004415.4(DSP):c.3957C>T (p.Thr1319=)
|
rs2113693020
|
|
|
NM_004415.4(DSP):c.3958A>G (p.Ile1320Val)
|
|
|
|
NM_004415.4(DSP):c.3964G>A (p.Asp1322Asn)
|
rs1759376700
|
|
|
NM_004415.4(DSP):c.3971A>G (p.Asn1324Ser)
|
|
|
|
NM_004415.4(DSP):c.397C>G (p.Gln133Glu)
|
|
|
|
NM_004415.4(DSP):c.3981C>A (p.Ile1327=)
|
rs397516934
|
|
|
NM_004415.4(DSP):c.3982G>A (p.Glu1328Lys)
|
rs746208168
|
|
|
NM_004415.4(DSP):c.3982G>C (p.Glu1328Gln)
|
rs746208168
|
|
|
NM_004415.4(DSP):c.3990C>G (p.Leu1330=)
|
|
|
|
NM_004415.4(DSP):c.3991_3995del (p.Leu1330_Lys1331insTer)
|
|
|
|
NM_004415.4(DSP):c.3996T>A (p.Ala1332=)
|
|
|
|
NM_004415.4(DSP):c.3997G>A (p.Glu1333Lys)
|
rs2113693124
|
|
|
NM_004415.4(DSP):c.4002T>G (p.Phe1334Leu)
|
rs1759378577
|
|
|
NM_004415.4(DSP):c.4003C>T (p.Gln1335Ter)
|
rs879255521
|
|
|
NM_004415.4(DSP):c.4009del (p.Glu1337fs)
|
rs794727381
|
|
|
NM_004415.4(DSP):c.4013C>A (p.Ala1338Asp)
|
rs2113693177
|
|
|
NM_004415.4(DSP):c.4014C>T (p.Ala1338=)
|
|
|
|
NM_004415.4(DSP):c.4016A>G (p.Lys1339Arg)
|
rs1759379431
|
|
|
NM_004415.4(DSP):c.4018C>G (p.Arg1340Gly)
|
rs768628788
|
|
|
NM_004415.4(DSP):c.4018C>T (p.Arg1340Cys)
|
rs768628788
|
|
|
NM_004415.4(DSP):c.402C>T (p.Pro134=)
|
rs373685989
|
|
|
NM_004415.4(DSP):c.4034A>C (p.Glu1345Ala)
|
rs201964660
|
|
|
NM_004415.4(DSP):c.4034A>G (p.Glu1345Gly)
|
rs201964660
|
|
|
NM_004415.4(DSP):c.4037_4041del (p.Asn1346fs)
|
rs1561698362
|
|
|
NM_004415.4(DSP):c.4042C>G (p.Leu1348Val)
|
|
|
|
NM_004415.4(DSP):c.4044_4047del (p.Ser1349fs)
|
|
|
|
NM_004415.4(DSP):c.4055G>A (p.Arg1352Lys)
|
rs757808893
|
|
|
NM_004415.4(DSP):c.4069GAG[1] (p.Glu1358del)
|
rs777457799
|
|
|
NM_004415.4(DSP):c.4071G>C (p.Glu1357Asp)
|
rs569786610
|
|
|
NM_004415.4(DSP):c.4072G>A (p.Glu1358Lys)
|
|
|
|
NM_004415.4(DSP):c.4076_4106del (p.Ile1359fs)
|
|
|
|
NM_004415.4(DSP):c.4077C>G (p.Ile1359Met)
|
|
|
|
NM_004415.4(DSP):c.4084T>C (p.Leu1362=)
|
rs2113693339
|
|
|
NM_004415.4(DSP):c.4090A>C (p.Asn1364His)
|
|
|
|
NM_004415.4(DSP):c.4098T>G (p.Phe1366Leu)
|
|
|
|
NM_004415.4(DSP):c.4099G>A (p.Glu1367Lys)
|
rs1759383897
|
|
|
NM_004415.4(DSP):c.4104C>T (p.Thr1368=)
|
rs1464715776
|
|
|
NM_004415.4(DSP):c.4107_4108delinsTG (p.Glu1369_Ile1370delinsAspVal)
|
rs1759384287
|
|
|
NM_004415.4(DSP):c.4109T>A (p.Ile1370Asn)
|
rs1759384359
|
|
|
NM_004415.4(DSP):c.4113_4114insCAAG (p.Ile1372fs)
|
|
|
|
NM_004415.4(DSP):c.411T>G (p.Ala137=)
|
rs745536008
|
|
|
NM_004415.4(DSP):c.4130T>A (p.Ile1377Asn)
|
rs1215591946
|
|
|
NM_004415.4(DSP):c.4134C>T (p.His1378=)
|
|
|
|
NM_004415.4(DSP):c.4140C>T (p.Leu1380=)
|
rs1759385261
|
|
|
NM_004415.4(DSP):c.4145T>C (p.Met1382Thr)
|
|
|
|
NM_004415.4(DSP):c.4145T>G (p.Met1382Arg)
|
|
|
|
NM_004415.4(DSP):c.4153_4156del (p.Glu1385fs)
|
rs1759385935
|
|
|
NM_004415.4(DSP):c.415del (p.Gln139fs)
|
|
|
|
NM_004415.4(DSP):c.416A>T (p.Gln139Leu)
|
rs1385183881
|
|
|
NM_004415.4(DSP):c.4172A>C (p.Tyr1391Ser)
|
rs727504547
|
|
|
NM_004415.4(DSP):c.4180C>T (p.Gln1394Ter)
|
rs140474226
|
|
|
NM_004415.4(DSP):c.4188C>T (p.Asp1396=)
|
|
|
|
NM_004415.4(DSP):c.418A>G (p.Lys140Glu)
|
|
|
|
NM_004415.4(DSP):c.4195A>G (p.Thr1399Ala)
|
rs1561698547
|
|
|
NM_004415.4(DSP):c.4197C>T (p.Thr1399=)
|
rs1581817166
|
|
|
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter)
|
rs770873593
|
|
|
NM_004415.4(DSP):c.4201G>T (p.Glu1401Ter)
|
rs774065012
|
|
|
NM_004415.4(DSP):c.4202A>T (p.Glu1401Val)
|
rs1759389046
|
|
|
NM_004415.4(DSP):c.4204A>G (p.Asn1402Asp)
|
|
|
|
NM_004415.4(DSP):c.4209G>A (p.Arg1403=)
|
rs1561698567
|
|
|
NM_004415.4(DSP):c.420A>G (p.Lys140=)
|
|
|
|
NM_004415.4(DSP):c.4213T>C (p.Leu1405=)
|
rs1451895767
|
|
|
NM_004415.4(DSP):c.4216T>C (p.Ser1406Pro)
|
|
|
|
NM_004415.4(DSP):c.422+17A>G
|
|
|
|
NM_004415.4(DSP):c.422+1G>A
|
|
|
|
NM_004415.4(DSP):c.422+2T>G
|
rs2113657846
|
|
|
NM_004415.4(DSP):c.422+3A>G
|
rs1758564707
|
|
|
NM_004415.4(DSP):c.422+7T>C
|
|
|
|
NM_004415.4(DSP):c.4226_4228del (p.Ile1409del)
|
rs746639284
|
|
|
NM_004415.4(DSP):c.4229dup (p.Arg1411fs)
|
|
|
|
NM_004415.4(DSP):c.422G>A (p.Arg141Lys)
|
|
|
|
NM_004415.4(DSP):c.422G>C (p.Arg141Thr)
|
rs969373062
|
|
|
NM_004415.4(DSP):c.423-10T>G
|
|
|
|
NM_004415.4(DSP):c.423-11T>A
|
rs1758598034
|
|
|
NM_004415.4(DSP):c.423-16G>A
|
rs1561681390
|
|
|
NM_004415.4(DSP):c.423-1G>T
|
rs1304410089
|
|
|
NM_004415.4(DSP):c.423-2A>G
|
rs2113659544
|
|
|
NM_004415.4(DSP):c.423-6T>G
|
|
|
|
NM_004415.4(DSP):c.423-9dup
|
rs1554105896
|
|
|
NM_004415.4(DSP):c.4233G>T (p.Arg1411Ser)
|
rs771721410
|
|
|
NM_004415.4(DSP):c.4239G>A (p.Lys1413=)
|
rs1581817246
|
|
|
NM_004415.4(DSP):c.423G>T (p.Arg141Ser)
|
|
|
|
NM_004415.4(DSP):c.4245T>A (p.Thr1415=)
|
rs397516936
|
|
|
NM_004415.4(DSP):c.4245T>G (p.Thr1415=)
|
rs397516936
|
|
|
NM_004415.4(DSP):c.4245_4254del (p.Leu1416fs)
|
|
|
|
NM_004415.4(DSP):c.4252C>T (p.Gln1418Ter)
|
|
|
|
NM_004415.4(DSP):c.4261G>A (p.Glu1421Lys)
|
rs769965019
|
|
|
NM_004415.4(DSP):c.4267C>A (p.Leu1423Ile)
|
|
|
|
NM_004415.4(DSP):c.4270A>C (p.Arg1424=)
|
rs1581817293
|
|
|
NM_004415.4(DSP):c.4276G>A (p.Val1426Met)
|
rs1759393186
|
|
|
NM_004415.4(DSP):c.4289T>C (p.Ile1430Thr)
|
|
|
|
NM_004415.4(DSP):c.428T>C (p.Leu143Pro)
|
rs746545985
|
|
|
NM_004415.4(DSP):c.4293A>T (p.Gln1431His)
|
|
|
|
NM_004415.4(DSP):c.4304C>T (p.Ala1435Val)
|
rs1164622831
|
|
|
NM_004415.4(DSP):c.4305_4311del (p.Thr1436fs)
|
rs2113693785
|
|
|
NM_004415.4(DSP):c.4311C>T (p.Gly1437=)
|
rs781353867
|
|
|
NM_004415.4(DSP):c.4317G>A (p.Glu1439=)
|
|
|
|
NM_004415.4(DSP):c.4336C>T (p.Gln1446Ter)
|
|
|
|
NM_004415.4(DSP):c.4337A>G (p.Gln1446Arg)
|
|
|
|
NM_004415.4(DSP):c.4337_4338insTGCT (p.Gln1446fs)
|
rs2113693861
|
|
|
NM_004415.4(DSP):c.4350G>A (p.Glu1450=)
|
rs1561698730
|
|
|
NM_004415.4(DSP):c.4351C>G (p.Leu1451Val)
|
|
|
|
NM_004415.4(DSP):c.4352T>C (p.Leu1451Pro)
|
rs1554108296
|
|
|
NM_004415.4(DSP):c.4357C>T (p.Gln1453Ter)
|
rs1561698750
|
|
|
NM_004415.4(DSP):c.4360G>A (p.Val1454Ile)
|
|
|
|
NM_004415.4(DSP):c.4365T>G (p.Thr1455=)
|
|
|
|
NM_004415.4(DSP):c.4369A>T (p.Met1457Leu)
|
|
|
|
NM_004415.4(DSP):c.4371G>C (p.Met1457Ile)
|
rs1169630255
|
|
|
NM_004415.4(DSP):c.4372C>A (p.Arg1458=)
|
rs28763965
|
|
|
NM_004415.4(DSP):c.4372C>T (p.Arg1458Ter)
|
rs28763965
|
|
|
NM_004415.4(DSP):c.4373G>T (p.Arg1458Leu)
|
rs370063434
|
|
|
NM_004415.4(DSP):c.4379A>G (p.Glu1460Gly)
|
rs1759396646
|
|
|
NM_004415.4(DSP):c.4384_4387del (p.Glu1461_Ser1462insTer)
|
rs1759396933
|
|
|
NM_004415.4(DSP):c.4385_4386delinsTT (p.Ser1462Ile)
|
rs730880090
|
|
|
NM_004415.4(DSP):c.4388dup (p.Arg1464fs)
|
|
|
|
NM_004415.4(DSP):c.438A>G (p.Gln146=)
|
rs2113659595
|
|
|
NM_004415.4(DSP):c.4392A>G (p.Arg1464=)
|
|
|
|
NM_004415.4(DSP):c.4395T>G (p.Tyr1465Ter)
|
rs1236464864
|
|
|
NM_004415.4(DSP):c.4396A>G (p.Lys1466Glu)
|
rs1561698838
|
|
|
NM_004415.4(DSP):c.4397dup (p.Gln1467fs)
|
rs1581817513
|
|
|
NM_004415.4(DSP):c.439G>C (p.Glu147Gln)
|
|
|
|
NM_004415.4(DSP):c.4404_4410del (p.Leu1469fs)
|
|
|
|
NM_004415.4(DSP):c.4409A>G (p.Asp1470Gly)
|
|
|
|
NM_004415.4(DSP):c.4411dup (p.Asp1471fs)
|
|
|
|
NM_004415.4(DSP):c.4415C>A (p.Ala1472Asp)
|
rs1272181488
|
|
|
NM_004415.4(DSP):c.4415C>T (p.Ala1472Val)
|
|
|
|
NM_004415.4(DSP):c.441G>C (p.Glu147Asp)
|
|
|
|
NM_004415.4(DSP):c.4421A>G (p.Lys1474Arg)
|
rs756456881
|
|
|
NM_004415.4(DSP):c.4423del (p.Thr1475fs)
|
rs1227662860
|
|
|
NM_004415.4(DSP):c.4426A>G (p.Ile1476Val)
|
|
|
|
NM_004415.4(DSP):c.4428C>T (p.Ile1476=)
|
rs754071010
|
|
|
NM_004415.4(DSP):c.4434_4464dup (p.Leu1489Ter)
|
rs2113694068
|
|
|
NM_004415.4(DSP):c.4434dup (p.Lys1479Ter)
|
rs2113694076
|
|
|
NM_004415.4(DSP):c.4445A>C (p.Glu1482Ala)
|
|
|
|
NM_004415.4(DSP):c.4449A>G (p.Ile1483Met)
|
rs1308817559
|
|
|
NM_004415.4(DSP):c.4451A>G (p.Glu1484Gly)
|
|
|
|
NM_004415.4(DSP):c.4451_4454del (p.Glu1484fs)
|
|
|
|
NM_004415.4(DSP):c.4462C>T (p.Gln1488Ter)
|
|
|
|
NM_004415.4(DSP):c.4468A>G (p.Ile1490Val)
|
|
|
|
NM_004415.4(DSP):c.4472A>G (p.Asp1491Gly)
|
rs397516938
|
|
|
NM_004415.4(DSP):c.4477_4480del (p.Glu1493fs)
|
|
|
|
NM_004415.4(DSP):c.448C>T (p.Arg150Ter)
|
rs2113659637
|
|
|
NM_004415.4(DSP):c.4491del (p.Lys1498fs)
|
|
|
|
NM_004415.4(DSP):c.4497C>T (p.Cys1499=)
|
rs892155521
|
|
|
NM_004415.4(DSP):c.4498C>T (p.Leu1500=)
|
rs2113694241
|
|
|
NM_004415.4(DSP):c.44G>A (p.Gly15Asp)
|
rs1265161836
|
|
|
NM_004415.4(DSP):c.4500G>A (p.Leu1500=)
|
|
|
|
NM_004415.4(DSP):c.4501G>A (p.Glu1501Lys)
|
|
|
|
NM_004415.4(DSP):c.4502A>G (p.Glu1501Gly)
|
rs1759403946
|
|
|
NM_004415.4(DSP):c.4509A>G (p.Glu1503=)
|
rs1350066172
|
|
|
NM_004415.4(DSP):c.4512C>T (p.Asn1504=)
|
rs140993677
|
|
|
NM_004415.4(DSP):c.4514C>A (p.Ala1505Glu)
|
|
|
|
NM_004415.4(DSP):c.4515G>A (p.Ala1505=)
|
rs193197554
|
|
|
NM_004415.4(DSP):c.4517G>A (p.Arg1506Lys)
|
|
|
|
NM_004415.4(DSP):c.4521A>T (p.Leu1507Phe)
|
rs1060500611
|
|
|
NM_004415.4(DSP):c.4523A>G (p.Gln1508Arg)
|
rs1759404972
|
|
|
NM_004415.4(DSP):c.4527_4559del (p.Arg1509_Ser1519del)
|
rs397516939
|
|
|
NM_004415.4(DSP):c.4532A>G (p.Gln1511Arg)
|
|
|
|
NM_004415.4(DSP):c.4533G>C (p.Gln1511His)
|
rs2113694339
|
|
|
NM_004415.4(DSP):c.4539C>A (p.Asp1513Glu)
|
rs1759406088
|
|
|
NM_004415.4(DSP):c.4541T>C (p.Leu1514Pro)
|
rs1173680775
|
|
|
NM_004415.4(DSP):c.4552A>G (p.Asn1518Asp)
|
|
|
|
NM_004415.4(DSP):c.4554C>T (p.Asn1518=)
|
rs1359876288
|
|
|
NM_004415.4(DSP):c.4558A>G (p.Ser1520Gly)
|
rs780953141
|
|
|
NM_004415.4(DSP):c.4558A>T (p.Ser1520Cys)
|
rs780953141
|
|
|
NM_004415.4(DSP):c.4562C>T (p.Ala1521Val)
|
|
|
|
NM_004415.4(DSP):c.4563G>C (p.Ala1521=)
|
|
|
|
NM_004415.4(DSP):c.4564A>T (p.Thr1522Ser)
|
rs1759406838
|
|
|
NM_004415.4(DSP):c.4569G>A (p.Glu1523=)
|
rs772831377
|
|
|
NM_004415.4(DSP):c.4571C>A (p.Thr1524Lys)
|
rs397516941
|
|
|
NM_004415.4(DSP):c.4571C>T (p.Thr1524Ile)
|
rs397516941
|
|
|
NM_004415.4(DSP):c.4579_4582del (p.Asn1526_Lys1527insTer)
|
rs2113694449
|
|
|
NM_004415.4(DSP):c.4582C>T (p.Leu1528=)
|
|
|
|
NM_004415.4(DSP):c.458A>G (p.Tyr153Cys)
|
rs1758601898
|
|
|
NM_004415.4(DSP):c.4593G>C (p.Gln1531His)
|
|
|
|
NM_004415.4(DSP):c.4595A>G (p.Glu1532Gly)
|
rs1759408509
|
|
|
NM_004415.4(DSP):c.4608dup (p.Arg1537fs)
|
|
|
|
NM_004415.4(DSP):c.4623C>T (p.Asp1541=)
|
rs1554108349
|
|
|
NM_004415.4(DSP):c.4625A>C (p.Tyr1542Ser)
|
|
|
|
NM_004415.4(DSP):c.4625_4626del (p.Asp1541_Tyr1542insTer)
|
|
|
|
NM_004415.4(DSP):c.4628A>G (p.Glu1543Gly)
|
|
|
|
NM_004415.4(DSP):c.4629A>C (p.Glu1543Asp)
|
rs1759410036
|
|
|
NM_004415.4(DSP):c.4632G>T (p.Arg1544Ser)
|
|
|
|
NM_004415.4(DSP):c.4635T>C (p.Val1545=)
|
|
|
|
NM_004415.4(DSP):c.4644G>A (p.Glu1548=)
|
rs1275385323
|
|
|
NM_004415.4(DSP):c.4647G>C (p.Arg1549Ser)
|
rs2113694603
|
|
|
NM_004415.4(DSP):c.4648A>G (p.Thr1550Ala)
|
rs375917565
|
|
|
NM_004415.4(DSP):c.4648A>T (p.Thr1550Ser)
|
|
|
|
NM_004415.4(DSP):c.4649C>G (p.Thr1550Ser)
|
rs928167721
|
|
|
NM_004415.4(DSP):c.465del (p.Ile156fs)
|
rs1554105911
|
|
|
NM_004415.4(DSP):c.466A>C (p.Ile156Leu)
|
|
|
|
NM_004415.4(DSP):c.4672C>T (p.Arg1558Trp)
|
|
|
|
NM_004415.4(DSP):c.4673G>A (p.Arg1558Gln)
|
|
|
|
NM_004415.4(DSP):c.4674G>T (p.Arg1558=)
|
|
|
|
NM_004415.4(DSP):c.4678C>T (p.Gln1560Ter)
|
|
|
|
NM_004415.4(DSP):c.4679A>G (p.Gln1560Arg)
|
rs796530013
|
|
|
NM_004415.4(DSP):c.4683C>G (p.Asn1561Lys)
|
|
|
|
NM_004415.4(DSP):c.4685C>G (p.Ser1562Cys)
|
|
|
|
NM_004415.4(DSP):c.4686T>A (p.Ser1562=)
|
rs898212782
|
|
|
NM_004415.4(DSP):c.4686T>C (p.Ser1562=)
|
|
|
|
NM_004415.4(DSP):c.4687_4688del (p.Leu1563fs)
|
rs2113694673
|
|
|
NM_004415.4(DSP):c.4689G>C (p.Leu1563=)
|
rs763150071
|
|
|
NM_004415.4(DSP):c.4696C>A (p.Leu1566Met)
|
|
|
|
NM_004415.4(DSP):c.4699C>T (p.Gln1567Ter)
|
rs2113694704
|
|
|
NM_004415.4(DSP):c.46C>A (p.Arg16Ser)
|
rs754773488
|
|
|
NM_004415.4(DSP):c.46C>T (p.Arg16Cys)
|
|
|
|
NM_004415.4(DSP):c.4712A>C (p.Gln1571Pro)
|
|
|
|
NM_004415.4(DSP):c.4713G>C (p.Gln1571His)
|
rs375381133
|
|
|
NM_004415.4(DSP):c.4717G>A (p.Val1573Met)
|
rs370171270
|
|
|
NM_004415.4(DSP):c.471T>C (p.Ser157=)
|
|
|
|
NM_004415.4(DSP):c.4731G>A (p.Leu1577=)
|
rs2113694756
|
|
|
NM_004415.4(DSP):c.4731G>C (p.Leu1577=)
|
rs2113694756
|
|
|
NM_004415.4(DSP):c.4737G>A (p.Arg1579=)
|
|
|
|
NM_004415.4(DSP):c.4740G>A (p.Leu1580=)
|
rs2113694768
|
|
|
NM_004415.4(DSP):c.4749C>A (p.Thr1583=)
|
|
|
|
NM_004415.4(DSP):c.474C>T (p.Val158=)
|
|
|
|
NM_004415.4(DSP):c.4750G>T (p.Ala1584Ser)
|
rs191778417
|
|
|
NM_004415.4(DSP):c.4751C>T (p.Ala1584Val)
|
|
|
|
NM_004415.4(DSP):c.4751_4752del (p.Ala1584fs)
|
rs2113694794
|
|
|
NM_004415.4(DSP):c.4751del (p.Ala1584fs)
|
|
|
|
NM_004415.4(DSP):c.4753_4759del (p.Ser1585fs)
|
rs2113694822
|
|
|
NM_004415.4(DSP):c.475C>T (p.Pro159Ser)
|
rs1758602932
|
|
|
NM_004415.4(DSP):c.4763_4765del (p.Ser1588del)
|
rs1010996982
|
|
|
NM_004415.4(DSP):c.4766G>T (p.Cys1589Phe)
|
|
|
|
NM_004415.4(DSP):c.4769A>G (p.Lys1590Arg)
|
rs2113694864
|
|
|
NM_004415.4(DSP):c.476C>G (p.Pro159Arg)
|
|
|
|
NM_004415.4(DSP):c.4780C>G (p.Leu1594Val)
|
rs149463707
|
|
|
NM_004415.4(DSP):c.4786G>A (p.Glu1596Lys)
|
|
|
|
NM_004415.4(DSP):c.4789G>T (p.Glu1597Ter)
|
rs1259613160
|
|
|
NM_004415.4(DSP):c.478C>G (p.Arg160Gly)
|
|
|
|
NM_004415.4(DSP):c.478C>T (p.Arg160Ter)
|
rs397516943
|
|
|
NM_004415.4(DSP):c.4790A>C (p.Glu1597Ala)
|
|
|
|
NM_004415.4(DSP):c.4791G>A (p.Glu1597=)
|
|
|
|
NM_004415.4(DSP):c.47G>A (p.Arg16His)
|
rs752387234
|
|
|
NM_004415.4(DSP):c.47G>C (p.Arg16Pro)
|
rs752387234
|
|
|
NM_004415.4(DSP):c.4803G>A (p.Met1601Ile)
|
rs869025392
|
|
|
NM_004415.4(DSP):c.4813C>T (p.Leu1605=)
|
|
|
|
NM_004415.4(DSP):c.4815G>A (p.Leu1605=)
|
rs2113694971
|
|
|
NM_004415.4(DSP):c.4820A>G (p.Glu1607Gly)
|
rs1364445729
|
|
|
NM_004415.4(DSP):c.4821G>A (p.Glu1607=)
|
rs1030367156
|
|
|
NM_004415.4(DSP):c.4822C>T (p.Gln1608Ter)
|
rs1060500610
|
|
|
NM_004415.4(DSP):c.4826C>A (p.Ala1609Asp)
|
|
|
|
NM_004415.4(DSP):c.4826C>T (p.Ala1609Val)
|
|
|
|
NM_004415.4(DSP):c.4835T>C (p.Ile1612Thr)
|
rs1581818435
|
|
|
NM_004415.4(DSP):c.4837A>T (p.Thr1613Ser)
|
|
|
|
NM_004415.4(DSP):c.4847C>T (p.Thr1616Ile)
|
rs1759419853
|
|
|
NM_004415.4(DSP):c.484C>G (p.Arg162Gly)
|
rs760711308
|
|
|
NM_004415.4(DSP):c.4857G>C (p.Leu1619=)
|
rs373385083
|
|
|
NM_004415.4(DSP):c.485G>A (p.Arg162His)
|
rs397516944
|
|
|
NM_004415.4(DSP):c.4866A>C (p.Ala1622=)
|
|
|
|
NM_004415.4(DSP):c.4868C>G (p.Ser1623Cys)
|
rs908086952
|
|
|
NM_004415.4(DSP):c.4870A>G (p.Ile1624Val)
|
|
|
|
NM_004415.4(DSP):c.4875del (p.Lys1626fs)
|
|
|
|
NM_004415.4(DSP):c.4876_4880del (p.Lys1626fs)
|
rs1759421816
|
|
|
NM_004415.4(DSP):c.4879_4883del (p.Lys1627fs)
|
|
|
|
NM_004415.4(DSP):c.4881G>A (p.Lys1627=)
|
|
|
|
NM_004415.4(DSP):c.4881G>T (p.Lys1627Asn)
|
|
|
|
NM_004415.4(DSP):c.4882_4886delinsTCTT (p.Arg1628fs)
|
|
|
|
NM_004415.4(DSP):c.4882_4886delinsTTCT (p.Arg1628fs)
|
rs1554108410
|
|
|
NM_004415.4(DSP):c.4882del (p.Arg1628fs)
|
rs2113695145
|
|
|
NM_004415.4(DSP):c.4886G>A (p.Ser1629Asn)
|
|
|
|
NM_004415.4(DSP):c.4888G>A (p.Glu1630Lys)
|
rs2113695154
|
|
|
NM_004415.4(DSP):c.4893T>G (p.Asp1631Glu)
|
rs775633446
|
|
|
NM_004415.4(DSP):c.4894G>A (p.Asp1632Asn)
|
rs747279731
|
|
|
NM_004415.4(DSP):c.4899C>T (p.Leu1633=)
|
rs876657459
|
|
|
NM_004415.4(DSP):c.48C>A (p.Arg16=)
|
rs755777329
|
|
|
NM_004415.4(DSP):c.4900C>T (p.Arg1634Trp)
|
rs973569441
|
|
|
NM_004415.4(DSP):c.4901G>T (p.Arg1634Leu)
|
rs144106775
|
|
|
NM_004415.4(DSP):c.4902del (p.Gln1635fs)
|
|
|
|
NM_004415.4(DSP):c.490_491insAGCTCGAGTCCCT (p.Ala164fs)
|
rs1758603690
|
|
|
NM_004415.4(DSP):c.4916T>C (p.Val1639Ala)
|
|
|
|
NM_004415.4(DSP):c.4922A>G (p.Asp1641Gly)
|
rs765847051
|
|
|
NM_004415.4(DSP):c.492C>G (p.Ala164=)
|
rs2113659755
|
|
|
NM_004415.4(DSP):c.4935G>A (p.Arg1645=)
|
rs751059120
|
|
|
NM_004415.4(DSP):c.4941del (p.Lys1647fs)
|
|
|
|
NM_004415.4(DSP):c.4946G>A (p.Arg1649Lys)
|
rs2113695278
|
|
|
NM_004415.4(DSP):c.4948A>G (p.Thr1650Ala)
|
rs2113695282
|
|
|
NM_004415.4(DSP):c.494G>A (p.Ser165Asn)
|
|
|
|
NM_004415.4(DSP):c.4951C>T (p.Gln1651Ter)
|
|
|
|
NM_004415.4(DSP):c.4953G>A (p.Gln1651=)
|
rs2113695297
|
|
|
NM_004415.4(DSP):c.4954G>C (p.Glu1652Gln)
|
rs267601119
|
|
|
NM_004415.4(DSP):c.4954dup (p.Glu1652fs)
|
|
|
|
NM_004415.4(DSP):c.4971C>G (p.Leu1657=)
|
|
|
|
NM_004415.4(DSP):c.4973C>T (p.Ser1658Phe)
|
rs202084959
|
|
|
NM_004415.4(DSP):c.4974_4975del (p.Ser1658_Ser1659insTer)
|
rs1759426108
|
|
|
NM_004415.4(DSP):c.497C>T (p.Ser166Phe)
|
rs1060500620
|
|
|
NM_004415.4(DSP):c.4994G>C (p.Arg1665Thr)
|
rs1290867734
|
|
|
NM_004415.4(DSP):c.4999C>A (p.Gln1667Lys)
|
|
|
|
NM_004415.4(DSP):c.4999C>T (p.Gln1667Ter)
|
rs1554108431
|
|
|
NM_004415.4(DSP):c.5004dup (p.Leu1669fs)
|
rs2113695398
|
|
|
NM_004415.4(DSP):c.5006T>C (p.Leu1669Pro)
|
rs776712810
|
|
|
NM_004415.4(DSP):c.5011del (p.Glu1671fs)
|
|
|
|
NM_004415.4(DSP):c.5014C>T (p.Gln1672Ter)
|
rs786205416
|
|
|
NM_004415.4(DSP):c.5016G>A (p.Gln1672=)
|
rs1759428613
|
|
|
NM_004415.4(DSP):c.5020dup (p.Ser1674fs)
|
rs2113695431
|
|
|
NM_004415.4(DSP):c.5028_5031del (p.Gln1677fs)
|
|
|
|
NM_004415.4(DSP):c.502G>A (p.Gly168Ser)
|
rs1308747530
|
|
|
NM_004415.4(DSP):c.5037C>G (p.His1679Gln)
|
|
|
|
NM_004415.4(DSP):c.5042G>A (p.Arg1681Lys)
|
rs1274117174
|
|
|
NM_004415.4(DSP):c.505G>A (p.Gly169Ser)
|
rs1184706017
|
|
|
NM_004415.4(DSP):c.5061G>C (p.Lys1687Asn)
|
rs754404501
|
|
|
NM_004415.4(DSP):c.5063_5072del (p.Ala1688fs)
|
rs2113695514
|
|
|
NM_004415.4(DSP):c.5064G>A (p.Ala1688=)
|
rs886061747
|
|
|
NM_004415.4(DSP):c.5064G>T (p.Ala1688=)
|
rs886061747
|
|
|
NM_004415.4(DSP):c.5065A>C (p.Ile1689Leu)
|
rs1043797322
|
|
|
NM_004415.4(DSP):c.506G>A (p.Gly169Asp)
|
rs1758605175
|
|
|
NM_004415.4(DSP):c.5071G>A (p.Asp1691Asn)
|
|
|
|
NM_004415.4(DSP):c.5075_5080del (p.Lys1692_Ser1693del)
|
|
|
|
NM_004415.4(DSP):c.5090A>T (p.Asn1697Ile)
|
rs2113695564
|
|
|
NM_004415.4(DSP):c.50T>C (p.Met17Thr)
|
rs559248100
|
|
|
NM_004415.4(DSP):c.5101A>G (p.Ile1701Val)
|
rs794728154
|
|
|
NM_004415.4(DSP):c.5107A>G (p.Ile1703Val)
|
rs868035157
|
|
|
NM_004415.4(DSP):c.5108T>A (p.Ile1703Asn)
|
rs794728123
|
|
|
NM_004415.4(DSP):c.5110G>A (p.Glu1704Lys)
|
rs1312263432
|
|
|
NM_004415.4(DSP):c.5114G>T (p.Arg1705Met)
|
rs1554108448
|
|
|
NM_004415.4(DSP):c.5115G>C (p.Arg1705Ser)
|
|
|
|
NM_004415.4(DSP):c.5116C>T (p.Leu1706=)
|
rs1759432452
|
|
|
NM_004415.4(DSP):c.5120_5123del (p.Gln1707fs)
|
|
|
|
NM_004415.4(DSP):c.5123C>G (p.Ser1708Cys)
|
rs372452104
|
|
|
NM_004415.4(DSP):c.5126_5127del (p.Leu1709fs)
|
|
|
|
NM_004415.4(DSP):c.512_513delinsAA (p.Gly171Glu)
|
rs1758605814
|
|
|
NM_004415.4(DSP):c.5133_5134insC (p.Asn1712fs)
|
|
|
|
NM_004415.4(DSP):c.5139G>A (p.Leu1713=)
|
rs1759433301
|
|
|
NM_004415.4(DSP):c.5142C>G (p.Thr1714=)
|
rs1275224079
|
|
|
NM_004415.4(DSP):c.5145G>A (p.Lys1715=)
|
|
|
|
NM_004415.4(DSP):c.5146del (p.Glu1716fs)
|
|
|
|
NM_004415.4(DSP):c.5154del (p.Met1719fs)
|
|
|
|
NM_004415.4(DSP):c.5161GAA[2] (p.Glu1723del)
|
rs730880091
|
|
|
NM_004415.4(DSP):c.5169A>G (p.Glu1723=)
|
rs1368627358
|
|
|
NM_004415.4(DSP):c.5171T>C (p.Leu1724Pro)
|
rs2113695726
|
|
|
NM_004415.4(DSP):c.5172G>C (p.Leu1724=)
|
rs2113695733
|
|
|
NM_004415.4(DSP):c.5174G>A (p.Arg1725Gln)
|
rs1759434677
|
|
|
NM_004415.4(DSP):c.5178C>T (p.Asn1726=)
|
|
|
|
NM_004415.4(DSP):c.5181G>A (p.Leu1727=)
|
rs1172441662
|
|
|
NM_004415.4(DSP):c.5188G>A (p.Glu1730Lys)
|
rs794727382
|
|
|
NM_004415.4(DSP):c.5188G>C (p.Glu1730Gln)
|
|
|
|
NM_004415.4(DSP):c.5196T>C (p.Asp1732=)
|
|
|
|
NM_004415.4(DSP):c.5205G>A (p.Arg1735=)
|
rs1561700008
|
|
|
NM_004415.4(DSP):c.5210del (p.Gly1737fs)
|
rs1581819043
|
|
|
NM_004415.4(DSP):c.5211A>G (p.Gly1737=)
|
rs1581819049
|
|
|
NM_004415.4(DSP):c.5212C>G (p.Arg1738Gly)
|
rs794728124
|
|
|
NM_004415.4(DSP):c.5212C>T (p.Arg1738Ter)
|
rs794728124
|
|
|
NM_004415.4(DSP):c.5223G>C (p.Ala1741=)
|
rs201984474
|
|
|
NM_004415.4(DSP):c.5225A>G (p.Asp1742Gly)
|
|
|
|
NM_004415.4(DSP):c.5227A>G (p.Ser1743Gly)
|
rs1759437499
|
|
|
NM_004415.4(DSP):c.522T>A (p.Cys174Ter)
|
rs144781697
|
|
|
NM_004415.4(DSP):c.523C>T (p.Gln175Ter)
|
rs1581794029
|
|
|
NM_004415.4(DSP):c.5245A>G (p.Ile1749Val)
|
rs1279085997
|
|
|
NM_004415.4(DSP):c.5249T>G (p.Leu1750Trp)
|
rs1759438511
|
|
|
NM_004415.4(DSP):c.5250G>A (p.Leu1750=)
|
|
|
|
NM_004415.4(DSP):c.5259G>A (p.Arg1753=)
|
rs2113695961
|
|
|
NM_004415.4(DSP):c.5262_5266dup (p.Leu1756fs)
|
|
|
|
NM_004415.4(DSP):c.5268G>A (p.Leu1756=)
|
|
|
|
NM_004415.4(DSP):c.5269C>T (p.Gln1757Ter)
|
rs1554108477
|
|
|
NM_004415.4(DSP):c.526A>G (p.Ser176Gly)
|
rs1426245453
|
|
|
NM_004415.4(DSP):c.5283C>A (p.Asn1761Lys)
|
rs763355815
|
|
|
NM_004415.4(DSP):c.5291T>A (p.Leu1764Gln)
|
rs767885673
|
|
|
NM_004415.4(DSP):c.5291T>C (p.Leu1764Pro)
|
rs767885673
|
|
|
NM_004415.4(DSP):c.5303G>T (p.Gly1768Val)
|
rs2113696049
|
|
|
NM_004415.4(DSP):c.5303_5304dup (p.Leu1769fs)
|
|
|
|
NM_004415.4(DSP):c.5304G>A (p.Gly1768=)
|
|
|
|
NM_004415.4(DSP):c.5305C>A (p.Leu1769Met)
|
rs946445410
|
|
|
NM_004415.4(DSP):c.5305C>T (p.Leu1769=)
|
|
|
|
NM_004415.4(DSP):c.5308A>G (p.Ile1770Val)
|
rs2113696065
|
|
|
NM_004415.4(DSP):c.5309T>C (p.Ile1770Thr)
|
|
|
|
NM_004415.4(DSP):c.5318T>C (p.Leu1773Ser)
|
rs2113696090
|
|
|
NM_004415.4(DSP):c.5318del (p.Leu1773fs)
|
rs2113696088
|
|
|
NM_004415.4(DSP):c.5322G>C (p.Gln1774His)
|
|
|
|
NM_004415.4(DSP):c.5327A>G (p.Glu1776Gly)
|
rs1363204936
|
|
|
NM_004415.4(DSP):c.5327_5330del (p.Glu1776fs)
|
rs1394836623
|
|
|
NM_004415.4(DSP):c.5329_5330del (p.Arg1777fs)
|
|
|
|
NM_004415.4(DSP):c.5353G>A (p.Glu1785Lys)
|
rs528041468
|
|
|
NM_004415.4(DSP):c.5355G>A (p.Glu1785=)
|
rs546610553
|
|
|
NM_004415.4(DSP):c.535G>A (p.Gly179Ser)
|
rs774829433
|
|
|
NM_004415.4(DSP):c.5363A>C (p.Gln1788Pro)
|
rs139673146
|
|
|
NM_004415.4(DSP):c.5364A>G (p.Gln1788=)
|
|
|
|
NM_004415.4(DSP):c.5371G>A (p.Ala1791Thr)
|
rs2113696199
|
|
|
NM_004415.4(DSP):c.5379+8C>G
|
rs771984464
|
|
|
NM_004415.4(DSP):c.537C>T (p.Gly179=)
|
|
|
|
NM_004415.4(DSP):c.5380-16_5380-13del
|
|
|
|
NM_004415.4(DSP):c.5380-1G>A
|
rs1759474600
|
|
|
NM_004415.4(DSP):c.5380-1G>C
|
rs1759474600
|
|
|
NM_004415.4(DSP):c.5380-20_5380-13del
|
|
|
|
NM_004415.4(DSP):c.5380-6T>C
|
|
|
|
NM_004415.4(DSP):c.5380-8A>C
|
|
|
|
NM_004415.4(DSP):c.5384C>A (p.Ser1795Tyr)
|
|
|
|
NM_004415.4(DSP):c.5389dup (p.Arg1797fs)
|
rs1759475221
|
|
|
NM_004415.4(DSP):c.5391G>A (p.Arg1797=)
|
rs778745098
|
|
|
NM_004415.4(DSP):c.5414G>T (p.Cys1805Phe)
|
rs768161038
|
|
|
NM_004415.4(DSP):c.5428C>T (p.Gln1810Ter)
|
rs397516946
|
|
|
NM_004415.4(DSP):c.5431G>T (p.Glu1811Ter)
|
rs2113697854
|
|
|
NM_004415.4(DSP):c.5438_5441del (p.Glu1813fs)
|
|
|
|
NM_004415.4(DSP):c.5439G>C (p.Glu1813Asp)
|
rs1759477469
|
|
|
NM_004415.4(DSP):c.5440_5441del (p.Ser1814fs)
|
|
|
|
NM_004415.4(DSP):c.5441G>A (p.Ser1814Asn)
|
rs730880085
|
|
|
NM_004415.4(DSP):c.5442C>A (p.Ser1814Arg)
|
rs2113697874
|
|
|
NM_004415.4(DSP):c.5442C>T (p.Ser1814=)
|
|
|
|
NM_004415.4(DSP):c.5448G>C (p.Leu1816=)
|
rs1270969886
|
|
|
NM_004415.4(DSP):c.5449G>A (p.Val1817Met)
|
|
|
|
NM_004415.4(DSP):c.5460_5466del (p.Val1821fs)
|
rs1554108610
|
|
|
NM_004415.4(DSP):c.5460_5472del (p.Val1821fs)
|
rs1759478436
|
|
|
NM_004415.4(DSP):c.5460dup (p.Val1821fs)
|
rs1554108609
|
|
|
NM_004415.4(DSP):c.5462del (p.Val1821fs)
|
rs2113697914
|
|
|
NM_004415.4(DSP):c.5481A>G (p.Ala1827=)
|
|
|
|
NM_004415.4(DSP):c.5483G>C (p.Arg1828Thr)
|
|
|
|
NM_004415.4(DSP):c.5489A>G (p.Gln1830Arg)
|
|
|
|
NM_004415.4(DSP):c.5489A>T (p.Gln1830Leu)
|
|
|
|
NM_004415.4(DSP):c.5492G>A (p.Arg1831Lys)
|
|
|
|
NM_004415.4(DSP):c.5512C>T (p.Arg1838Cys)
|
rs756481791
|
|
|
NM_004415.4(DSP):c.5513G>T (p.Arg1838Leu)
|
rs377715841
|
|
|
NM_004415.4(DSP):c.5516C>T (p.Ala1839Val)
|
|
|
|
NM_004415.4(DSP):c.5517A>G (p.Ala1839=)
|
rs764240800
|
|
|
NM_004415.4(DSP):c.5521T>C (p.Ser1841Pro)
|
|
|
|
NM_004415.4(DSP):c.5526T>C (p.Thr1842=)
|
rs2113698060
|
|
|
NM_004415.4(DSP):c.5538A>C (p.Glu1846Asp)
|
|
|
|
NM_004415.4(DSP):c.5542del (p.Arg1848fs)
|
rs1759482084
|
|
|
NM_004415.4(DSP):c.5544G>A (p.Arg1848=)
|
rs727503004
|
|
|
NM_004415.4(DSP):c.5548A>C (p.Lys1850Gln)
|
|
|
|
NM_004415.4(DSP):c.5550_5557delinsGTG (p.Gln1851fs)
|
rs1554108621
|
|
|
NM_004415.4(DSP):c.5551C>T (p.Gln1851Ter)
|
|
|
|
NM_004415.4(DSP):c.5555G>T (p.Arg1852Leu)
|
|
|
|
NM_004415.4(DSP):c.5560G>C (p.Glu1854Gln)
|
|
|
|
NM_004415.4(DSP):c.5563T>C (p.Cys1855Arg)
|
rs1453126950
|
|
|
NM_004415.4(DSP):c.557A>G (p.His186Arg)
|
rs1033990351
|
|
|
NM_004415.4(DSP):c.557A>T (p.His186Leu)
|
rs1033990351
|
|
|
NM_004415.4(DSP):c.5584A>T (p.Asn1862Tyr)
|
rs2113698216
|
|
|
NM_004415.4(DSP):c.5587G>A (p.Asp1863Asn)
|
|
|
|
NM_004415.4(DSP):c.5590C>A (p.Leu1864Met)
|
|
|
|
NM_004415.4(DSP):c.5598G>A (p.Gln1866=)
|
|
|
|
NM_004415.4(DSP):c.55C>T (p.Arg19Cys)
|
rs777340009
|
|
|
NM_004415.4(DSP):c.5609A>G (p.Gln1870Arg)
|
|
|
|
NM_004415.4(DSP):c.5618G>T (p.Arg1873Leu)
|
rs776088292
|
|
|
NM_004415.4(DSP):c.5620A>G (p.Lys1874Glu)
|
|
|
|
NM_004415.4(DSP):c.5633T>C (p.Ile1878Thr)
|
rs1581820615
|
|
|
NM_004415.4(DSP):c.5635A>G (p.Arg1879Gly)
|
rs1759488201
|
|
|
NM_004415.4(DSP):c.5642T>C (p.Ile1881Thr)
|
rs1192963820
|
|
|
NM_004415.4(DSP):c.5648C>A (p.Ser1883Ter)
|
|
|
|
NM_004415.4(DSP):c.564C>T (p.Thr188=)
|
rs2113659978
|
|
|
NM_004415.4(DSP):c.5656_5657del (p.Glu1886fs)
|
rs1759489185
|
|
|
NM_004415.4(DSP):c.5659A>G (p.Lys1887Glu)
|
|
|
|
NM_004415.4(DSP):c.5664T>A (p.Ser1888Arg)
|
|
|
|
NM_004415.4(DSP):c.5664_5667del (p.Ser1888fs)
|
rs1759489644
|
|
|
NM_004415.4(DSP):c.5669G>A (p.Arg1890Lys)
|
|
|
|
NM_004415.4(DSP):c.5671_5674del (p.Glu1891fs)
|
rs1487814687
|
|
|
NM_004415.4(DSP):c.5673GAA[1] (p.Lys1892del)
|
|
|
|
NM_004415.4(DSP):c.5673_5674del (p.Lys1892fs)
|
rs1487814687
|
|
|
NM_004415.4(DSP):c.5673_5674dup (p.Lys1892fs)
|
rs1487814687
|
|
|
NM_004415.4(DSP):c.5674A>G (p.Lys1892Glu)
|
|
|
|
NM_004415.4(DSP):c.5678A>G (p.Asn1893Ser)
|
rs2113698496
|
|
|
NM_004415.4(DSP):c.5679C>T (p.Asn1893=)
|
rs1367738238
|
|
|
NM_004415.4(DSP):c.5680A>C (p.Ser1894Arg)
|
|
|
|
NM_004415.4(DSP):c.5680_5683del (p.Ser1894fs)
|
rs774763657
|
|
|
NM_004415.4(DSP):c.5681G>C (p.Ser1894Thr)
|
|
|
|
NM_004415.4(DSP):c.5683C>G (p.Leu1895Val)
|
rs1159494439
|
|
|
NM_004415.4(DSP):c.5688_5690del (p.Arg1896del)
|
rs1561701244
|
|
|
NM_004415.4(DSP):c.568G>A (p.Glu190Lys)
|
rs1758608184
|
|
|
NM_004415.4(DSP):c.5697C>G (p.Ile1899Met)
|
|
|
|
NM_004415.4(DSP):c.5697C>T (p.Ile1899=)
|
rs879254348
|
|
|
NM_004415.4(DSP):c.56G>A (p.Arg19His)
|
rs1757992558
|
|
|
NM_004415.4(DSP):c.5706C>G (p.Leu1902=)
|
rs879254349
|
|
|
NM_004415.4(DSP):c.5711C>T (p.Ala1904Val)
|
rs1473162721
|
|
|
NM_004415.4(DSP):c.572G>A (p.Cys191Tyr)
|
|
|
|
NM_004415.4(DSP):c.5731G>T (p.Glu1911Ter)
|
|
|
|
NM_004415.4(DSP):c.5734A>C (p.Arg1912=)
|
|
|
|
NM_004415.4(DSP):c.5736G>A (p.Arg1912=)
|
rs371873840
|
|
|
NM_004415.4(DSP):c.5736G>T (p.Arg1912Ser)
|
rs371873840
|
|
|
NM_004415.4(DSP):c.5738G>C (p.Cys1913Ser)
|
rs755250746
|
|
|
NM_004415.4(DSP):c.573_576del (p.Cys191fs)
|
|
|
|
NM_004415.4(DSP):c.5743C>A (p.Arg1915Ser)
|
|
|
|
NM_004415.4(DSP):c.5743C>T (p.Arg1915Cys)
|
rs1461028383
|
|
|
NM_004415.4(DSP):c.5745T>C (p.Arg1915=)
|
rs2113698631
|
|
|
NM_004415.4(DSP):c.5745dup (p.Lys1916Ter)
|
rs1060500607
|
|
|
NM_004415.4(DSP):c.5748G>A (p.Lys1916=)
|
|
|
|
NM_004415.4(DSP):c.575T>C (p.Leu192Ser)
|
|
|
|
NM_004415.4(DSP):c.5765G>A (p.Arg1922Lys)
|
rs1235630592
|
|
|
NM_004415.4(DSP):c.5767G>C (p.Glu1923Gln)
|
rs397516948
|
|
|
NM_004415.4(DSP):c.576G>A (p.Leu192=)
|
rs1758608540
|
|
|
NM_004415.4(DSP):c.576G>T (p.Leu192Phe)
|
rs1758608540
|
|
|
NM_004415.4(DSP):c.5773C>T (p.Gln1925Ter)
|
rs2113698710
|
|
|
NM_004415.4(DSP):c.5773_5774del (p.Gln1925fs)
|
rs1561701401
|
|
|
NM_004415.4(DSP):c.5779C>T (p.Gln1927Ter)
|
|
|
|
NM_004415.4(DSP):c.5782_5785del (p.Leu1928fs)
|
|
|
|
NM_004415.4(DSP):c.5785G>A (p.Glu1929Lys)
|
|
|
|
NM_004415.4(DSP):c.5789C>G (p.Thr1930Arg)
|
rs794728126
|
|
|
NM_004415.4(DSP):c.5798C>G (p.Ser1933Cys)
|
|
|
|
NM_004415.4(DSP):c.57C>A (p.Arg19=)
|
rs2113628728
|
|
|
NM_004415.4(DSP):c.5800C>T (p.Arg1934Ter)
|
rs121912996
|
|
|
NM_004415.4(DSP):c.5806C>T (p.Gln1936Ter)
|
rs2113698797
|
|
|
NM_004415.4(DSP):c.5819A>T (p.Asp1940Val)
|
rs1430290356
|
|
|
NM_004415.4(DSP):c.5821A>G (p.Lys1941Glu)
|
rs794728127
|
|
|
NM_004415.4(DSP):c.5828G>T (p.Arg1943Ile)
|
|
|
|
NM_004415.4(DSP):c.582G>A (p.Trp194Ter)
|
|
|
|
NM_004415.4(DSP):c.5830C>T (p.Gln1944Ter)
|
rs2113698863
|
|
|
NM_004415.4(DSP):c.5838A>G (p.Pro1946=)
|
|
|
|
NM_004415.4(DSP):c.5840A>G (p.Tyr1947Cys)
|
|
|
|
NM_004415.4(DSP):c.5840_5841dup (p.Gly1948fs)
|
|
|
|
NM_004415.4(DSP):c.5844G>A (p.Gly1948=)
|
|
|
|
NM_004415.4(DSP):c.5844G>C (p.Gly1948=)
|
|
|
|
NM_004415.4(DSP):c.5847C>A (p.Ser1949=)
|
rs953031251
|
|
|
NM_004415.4(DSP):c.5850_5851delinsAT (p.His1950_Arg1951delinsGlnTer)
|
rs2113698912
|
|
|
NM_004415.4(DSP):c.5851C>T (p.Arg1951Ter)
|
rs869025395
|
|
|
NM_004415.4(DSP):c.5852G>A (p.Arg1951Gln)
|
|
|
|
NM_004415.4(DSP):c.5855del (p.Glu1952fs)
|
rs1759501217
|
|
|
NM_004415.4(DSP):c.5859C>T (p.Thr1953=)
|
|
|
|
NM_004415.4(DSP):c.5869T>C (p.Cys1957Arg)
|
rs2113698961
|
|
|
NM_004415.4(DSP):c.5874G>C (p.Glu1958Asp)
|
|
|
|
NM_004415.4(DSP):c.5877G>A (p.Trp1959Ter)
|
|
|
|
NM_004415.4(DSP):c.5887A>G (p.Thr1963Ala)
|
|
|
|
NM_004415.4(DSP):c.5887dup (p.Thr1963fs)
|
rs2113699015
|
|
|
NM_004415.4(DSP):c.5892C>T (p.Ser1964=)
|
|
|
|
NM_004415.4(DSP):c.5896C>G (p.Leu1966Val)
|
rs1554108700
|
|
|
NM_004415.4(DSP):c.5898G>A (p.Leu1966=)
|
rs1026631797
|
|
|
NM_004415.4(DSP):c.5901G>T (p.Val1967=)
|
rs2113699039
|
|
|
NM_004415.4(DSP):c.5907T>C (p.Asp1969=)
|
|
|
|
NM_004415.4(DSP):c.5910G>A (p.Gly1970=)
|
|
|
|
NM_004415.4(DSP):c.5916G>A (p.Arg1972=)
|
rs1581821297
|
|
|
NM_004415.4(DSP):c.5918A>G (p.Lys1973Arg)
|
rs376397314
|
|
|
NM_004415.4(DSP):c.591G>A (p.Gln197=)
|
rs2113660086
|
|
|
NM_004415.4(DSP):c.5920A>G (p.Lys1974Glu)
|
rs1561701683
|
|
|
NM_004415.4(DSP):c.5922G>C (p.Lys1974Asn)
|
rs193059393
|
|
|
NM_004415.4(DSP):c.5924T>C (p.Val1975Ala)
|
rs1759505693
|
|
|
NM_004415.4(DSP):c.5933T>C (p.Met1978Thr)
|
rs1322656621
|
|
|
NM_004415.4(DSP):c.5942A>G (p.Tyr1981Cys)
|
rs1085307622
|
|
|
NM_004415.4(DSP):c.5943dup (p.Glu1982Ter)
|
rs2113699152
|
|
|
NM_004415.4(DSP):c.5958C>A (p.Ile1986=)
|
|
|
|
NM_004415.4(DSP):c.5964_5968del (p.Lys1988fs)
|
|
|
|
NM_004415.4(DSP):c.596G>T (p.Arg199Met)
|
|
|
|
NM_004415.4(DSP):c.597+15G>A
|
|
|
|
NM_004415.4(DSP):c.597+17A>G
|
rs779437301
|
|
|
NM_004415.4(DSP):c.597+19A>C
|
|
|
|
NM_004415.4(DSP):c.597+1G>A
|
rs2113660108
|
|
|
NM_004415.4(DSP):c.597+2_597+5dup
|
rs765558005
|
|
|
NM_004415.4(DSP):c.597+4A>C
|
|
|
|
NM_004415.4(DSP):c.5972T>C (p.Leu1991Ser)
|
|
|
|
NM_004415.4(DSP):c.5978A>G (p.Lys1993Arg)
|
rs1561701766
|
|
|
NM_004415.4(DSP):c.598-13_598-8del
|
|
|
|
NM_004415.4(DSP):c.598-19C>T
|
|
|
|
NM_004415.4(DSP):c.598-4G>T
|
rs747448946
|
|
|
NM_004415.4(DSP):c.5987del (p.Lys1996fs)
|
rs1759510200
|
|
|
NM_004415.4(DSP):c.5988G>A (p.Lys1996=)
|
|
|
|
NM_004415.4(DSP):c.5999_6011del (p.Ser2000fs)
|
|
|
|
NM_004415.4(DSP):c.5999del (p.Lys1999_Ser2000insTer)
|
rs2113699280
|
|
|
NM_004415.4(DSP):c.5G>C (p.Ser2Thr)
|
|
|
|
NM_004415.4(DSP):c.600G>A (p.Ala200=)
|
rs748400605
|
|
|
NM_004415.4(DSP):c.6010G>C (p.Val2004Leu)
|
|
|
|
NM_004415.4(DSP):c.6011T>C (p.Val2004Ala)
|
rs1759511205
|
|
|
NM_004415.4(DSP):c.6013G>A (p.Ala2005Thr)
|
|
|
|
NM_004415.4(DSP):c.6021A>G (p.Glu2007=)
|
|
|
|
NM_004415.4(DSP):c.6028C>T (p.Pro2010Ser)
|
|
|
|
NM_004415.4(DSP):c.603G>A (p.Glu201=)
|
rs770080985
|
|
|
NM_004415.4(DSP):c.6041G>C (p.Gly2014Ala)
|
rs1470983327
|
|
|
NM_004415.4(DSP):c.6045A>G (p.Ala2015=)
|
|
|
|
NM_004415.4(DSP):c.6046G>A (p.Gly2016Arg)
|
rs1759513408
|
|
|
NM_004415.4(DSP):c.604A>G (p.Met202Val)
|
|
|
|
NM_004415.4(DSP):c.6055G>A (p.Ala2019Thr)
|
rs771974957
|
|
|
NM_004415.4(DSP):c.6055G>T (p.Ala2019Ser)
|
rs771974957
|
|
|
NM_004415.4(DSP):c.6063A>T (p.Ala2021=)
|
|
|
|
NM_004415.4(DSP):c.6067G>C (p.Ala2023Pro)
|
rs776533737
|
|
|
NM_004415.4(DSP):c.6067G>T (p.Ala2023Ser)
|
rs776533737
|
|
|
NM_004415.4(DSP):c.6068C>G (p.Ala2023Gly)
|
|
|
|
NM_004415.4(DSP):c.6069T>C (p.Ala2023=)
|
|
|
|
NM_004415.4(DSP):c.6072T>C (p.Ser2024=)
|
|
|
|
NM_004415.4(DSP):c.6072_6073insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCATCTGCTTCT (p.Pro2025fs)
|
|
|
|
NM_004415.4(DSP):c.6073C>T (p.Pro2025Ser)
|
rs1759514545
|
|
|
NM_004415.4(DSP):c.6075T>A (p.Pro2025=)
|
rs2113699490
|
|
|
NM_004415.4(DSP):c.6084A>G (p.Lys2028=)
|
rs2113699503
|
|
|
NM_004415.4(DSP):c.6084dup (p.Tyr2029fs)
|
rs2113699501
|
|
|
NM_004415.4(DSP):c.6085dup (p.Tyr2029fs)
|
|
|
|
NM_004415.4(DSP):c.6088T>C (p.Ser2030Pro)
|
rs1759514959
|
|
|
NM_004415.4(DSP):c.6089C>A (p.Ser2030Tyr)
|
rs867842357
|
|
|
NM_004415.4(DSP):c.6090T>A (p.Ser2030=)
|
|
|
|
NM_004415.4(DSP):c.6091_6092del (p.Leu2031fs)
|
rs397514040
|
|
|
NM_004415.4(DSP):c.6104A>C (p.Lys2035Thr)
|
|
|
|
NM_004415.4(DSP):c.6105G>A (p.Lys2035=)
|
rs2113699553
|
|
|
NM_004415.4(DSP):c.6106A>G (p.Arg2036Gly)
|
rs2113699558
|
|
|
NM_004415.4(DSP):c.6117A>G (p.Leu2039=)
|
|
|
|
NM_004415.4(DSP):c.6118A>G (p.Ile2040Val)
|
|
|
|
NM_004415.4(DSP):c.6120C>T (p.Ile2040=)
|
|
|
|
NM_004415.4(DSP):c.612G>C (p.Met204Ile)
|
rs1021314728
|
|
|
NM_004415.4(DSP):c.612G>T (p.Met204Ile)
|
|
|
|
NM_004415.4(DSP):c.6134C>G (p.Thr2045Arg)
|
rs1759516546
|
|
|
NM_004415.4(DSP):c.6138C>A (p.Val2046=)
|
|
|
|
NM_004415.4(DSP):c.6146T>G (p.Leu2049Arg)
|
rs1759516965
|
|
|
NM_004415.4(DSP):c.6160G>A (p.Ala2054Thr)
|
rs1759517531
|
|
|
NM_004415.4(DSP):c.6166G>C (p.Gly2056Arg)
|
rs780274878
|
|
|
NM_004415.4(DSP):c.6167G>T (p.Gly2056Val)
|
rs2113699658
|
|
|
NM_004415.4(DSP):c.616G>A (p.Ala206Thr)
|
rs794728109
|
|
|
NM_004415.4(DSP):c.6171T>C (p.Gly2057=)
|
|
|
|
NM_004415.4(DSP):c.6179A>T (p.Asp2060Val)
|
|
|
|
NM_004415.4(DSP):c.6181C>T (p.Pro2061Ser)
|
rs1561702055
|
|
|
NM_004415.4(DSP):c.6187C>T (p.Arg2063Trp)
|
rs374090050
|
|
|
NM_004415.4(DSP):c.6203C>G (p.Thr2068Ser)
|
|
|
|
NM_004415.4(DSP):c.6207C>G (p.Val2069=)
|
|
|
|
NM_004415.4(DSP):c.6208G>C (p.Asp2070His)
|
|
|
|
NM_004415.4(DSP):c.620G>C (p.Trp207Ser)
|
rs1445705079
|
|
|
NM_004415.4(DSP):c.6210C>T (p.Asp2070=)
|
|
|
|
NM_004415.4(DSP):c.6222T>G (p.Ala2074=)
|
rs1759520376
|
|
|
NM_004415.4(DSP):c.6224G>T (p.Arg2075Leu)
|
|
|
|
NM_004415.4(DSP):c.6231C>T (p.Leu2077=)
|
|
|
|
NM_004415.4(DSP):c.6237C>T (p.Asp2079=)
|
rs1309030788
|
|
|
NM_004415.4(DSP):c.623del (p.Gly208fs)
|
rs2113665067
|
|
|
NM_004415.4(DSP):c.6243T>C (p.Asp2081=)
|
rs1759521514
|
|
|
NM_004415.4(DSP):c.6247C>G (p.Arg2083Gly)
|
rs370093129
|
|
|
NM_004415.4(DSP):c.6253C>T (p.Gln2085Ter)
|
|
|
|
NM_004415.4(DSP):c.6260A>G (p.Tyr2087Cys)
|
rs1244910374
|
|
|
NM_004415.4(DSP):c.6262G>T (p.Ala2088Ser)
|
|
|
|
NM_004415.4(DSP):c.6262del (p.Ala2088fs)
|
rs1759522381
|
|
|
NM_004415.4(DSP):c.6273del (p.Ala2092fs)
|
rs794728146
|
|
|
NM_004415.4(DSP):c.6275C>T (p.Ala2092Val)
|
rs876657796
|
|
|
NM_004415.4(DSP):c.6278T>C (p.Ile2093Thr)
|
|
|
|
NM_004415.4(DSP):c.6288dup (p.Asp2097Ter)
|
rs2113699911
|
|
|
NM_004415.4(DSP):c.6294T>C (p.Asp2098=)
|
|
|
|
NM_004415.4(DSP):c.6295_6296delinsAT (p.Pro2099Ile)
|
rs587782942
|
|
|
NM_004415.4(DSP):c.6297A>G (p.Pro2099=)
|
rs1759525136
|
|
|
NM_004415.4(DSP):c.6305G>T (p.Gly2102Val)
|
|
|
|
NM_004415.4(DSP):c.6306C>T (p.Gly2102=)
|
|
|
|
NM_004415.4(DSP):c.630C>T (p.Asp210=)
|
rs2113665093
|
|
|
NM_004415.4(DSP):c.6312A>G (p.Thr2104=)
|
|
|
|
NM_004415.4(DSP):c.6318del (p.Val2107fs)
|
rs2113699991
|
|
|
NM_004415.4(DSP):c.6328G>T (p.Ala2110Ser)
|
|
|
|
NM_004415.4(DSP):c.6353G>C (p.Arg2118Thr)
|
|
|
|
NM_004415.4(DSP):c.6358A>G (p.Thr2120Ala)
|
rs1759528776
|
|
|
NM_004415.4(DSP):c.6361G>A (p.Gly2121Arg)
|
rs368227724
|
|
|
NM_004415.4(DSP):c.6364A>G (p.Met2122Val)
|
|
|
|
NM_004415.4(DSP):c.6367C>A (p.Arg2123Ser)
|
|
|
|
NM_004415.4(DSP):c.6375G>A (p.Leu2125=)
|
rs2113700156
|
|
|
NM_004415.4(DSP):c.6382C>T (p.Gln2128Ter)
|
rs2113700191
|
|
|
NM_004415.4(DSP):c.6393del (p.Gly2133fs)
|
rs730880093
|
|
|
NM_004415.4(DSP):c.6395G>A (p.Gly2132Glu)
|
|
|
|
NM_004415.4(DSP):c.6398dup (p.Val2134fs)
|
rs794728147
|
|
|
NM_004415.4(DSP):c.63G>A (p.Glu21=)
|
|
|
|
NM_004415.4(DSP):c.6409C>A (p.Pro2137Thr)
|
rs2113700303
|
|
|
NM_004415.4(DSP):c.6417C>T (p.Asn2139=)
|
|
|
|
NM_004415.4(DSP):c.6422T>G (p.Val2141Gly)
|
rs1759532262
|
|
|
NM_004415.4(DSP):c.6432A>G (p.Pro2144=)
|
rs773730187
|
|
|
NM_004415.4(DSP):c.6432A>T (p.Pro2144=)
|
rs773730187
|
|
|
NM_004415.4(DSP):c.6441C>T (p.Val2147=)
|
rs762513279
|
|
|
NM_004415.4(DSP):c.6453G>A (p.Arg2151=)
|
|
|
|
NM_004415.4(DSP):c.6454G>C (p.Gly2152Arg)
|
|
|
|
NM_004415.4(DSP):c.6456dup (p.Leu2153fs)
|
rs1554108854
|
|
|
NM_004415.4(DSP):c.6459G>A (p.Leu2153=)
|
|
|
|
NM_004415.4(DSP):c.6460A>G (p.Ile2154Val)
|
|
|
|
NM_004415.4(DSP):c.6461T>C (p.Ile2154Thr)
|
rs2113700418
|
|
|
NM_004415.4(DSP):c.6466dup (p.Arg2156fs)
|
rs1554108859
|
|
|
NM_004415.4(DSP):c.646dup (p.Gln216fs)
|
rs2113665124
|
|
|
NM_004415.4(DSP):c.6470A>G (p.Asp2157Gly)
|
rs2113700447
|
|
|
NM_004415.4(DSP):c.6472T>C (p.Leu2158=)
|
rs1455927842
|
|
|
NM_004415.4(DSP):c.6475T>C (p.Tyr2159His)
|
|
|
|
NM_004415.4(DSP):c.6477T>C (p.Tyr2159=)
|
rs1014118868
|
|
|
NM_004415.4(DSP):c.6478C>T (p.Arg2160Ter)
|
rs777573018
|
|
|
NM_004415.4(DSP):c.6479G>C (p.Arg2160Pro)
|
rs146642551
|
|
|
NM_004415.4(DSP):c.647A>C (p.Gln216Pro)
|
rs1758736357
|
|
|
NM_004415.4(DSP):c.6480A>T (p.Arg2160=)
|
|
|
|
NM_004415.4(DSP):c.6482C>T (p.Ser2161Phe)
|
|
|
|
NM_004415.4(DSP):c.6483C>G (p.Ser2161=)
|
rs560775653
|
|
|
NM_004415.4(DSP):c.6485T>C (p.Leu2162Pro)
|
|
|
|
NM_004415.4(DSP):c.6494C>T (p.Pro2165Leu)
|
rs1759535966
|
|
|
NM_004415.4(DSP):c.6495C>G (p.Pro2165=)
|
|
|
|
NM_004415.4(DSP):c.6496C>T (p.Arg2166Ter)
|
rs141026028
|
|
|
NM_004415.4(DSP):c.64T>C (p.Ser22Pro)
|
rs2113628752
|
|
|
NM_004415.4(DSP):c.6501T>C (p.Asp2167=)
|
rs2113700524
|
|
|
NM_004415.4(DSP):c.6504_6507del (p.Ser2168fs)
|
rs1561702640
|
|
|
NM_004415.4(DSP):c.6505C>G (p.Gln2169Glu)
|
rs1561702645
|
|
|
NM_004415.4(DSP):c.6510_6511insCT (p.Asn2171fs)
|
rs794728148
|
|
|
NM_004415.4(DSP):c.6512A>C (p.Asn2171Thr)
|
|
|
|
NM_004415.4(DSP):c.6516del (p.Phe2172fs)
|
|
|
|
NM_004415.4(DSP):c.6526G>A (p.Val2176Ile)
|
rs746533703
|
|
|
NM_004415.4(DSP):c.6526G>C (p.Val2176Leu)
|
rs746533703
|
|
|
NM_004415.4(DSP):c.6530C>A (p.Thr2177Asn)
|
|
|
|
NM_004415.4(DSP):c.6545G>T (p.Ser2182Ile)
|
|
|
|
NM_004415.4(DSP):c.6547T>C (p.Tyr2183His)
|
rs763549172
|
|
|
NM_004415.4(DSP):c.6551T>A (p.Val2184Glu)
|
|
|
|
NM_004415.4(DSP):c.6552G>T (p.Val2184=)
|
rs2113700626
|
|
|
NM_004415.4(DSP):c.6555G>A (p.Gln2185=)
|
rs1759540115
|
|
|
NM_004415.4(DSP):c.6562del (p.Glu2188fs)
|
rs2113700654
|
|
|
NM_004415.4(DSP):c.6564A>C (p.Glu2188Asp)
|
|
|
|
NM_004415.4(DSP):c.6565C>A (p.Arg2189=)
|
|
|
|
NM_004415.4(DSP):c.6569G>T (p.Cys2190Phe)
|
rs1276738564
|
|
|
NM_004415.4(DSP):c.6570C>T (p.Cys2190=)
|
|
|
|
NM_004415.4(DSP):c.6572G>A (p.Arg2191Lys)
|
rs527888978
|
|
|
NM_004415.4(DSP):c.6576C>T (p.Ile2192=)
|
rs1032400756
|
|
|
NM_004415.4(DSP):c.6577G>A (p.Glu2193Lys)
|
rs397516952
|
|
|
NM_004415.4(DSP):c.6583_6584del (p.His2195fs)
|
rs1561702771
|
|
|
NM_004415.4(DSP):c.6586A>G (p.Thr2196Ala)
|
rs2113700741
|
|
|
NM_004415.4(DSP):c.6592C>T (p.Leu2198=)
|
rs752057967
|
|
|
NM_004415.4(DSP):c.6595C>G (p.Leu2199Val)
|
|
|
|
NM_004415.4(DSP):c.6597C>G (p.Leu2199=)
|
|
|
|
NM_004415.4(DSP):c.65C>G (p.Ser22Cys)
|
|
|
|
NM_004415.4(DSP):c.6603T>G (p.Leu2201=)
|
rs758152190
|
|
|
NM_004415.4(DSP):c.6605del (p.Leu2201_Ser2202insTer)
|
|
|
|
NM_004415.4(DSP):c.6620G>C (p.Ser2207Thr)
|
|
|
|
NM_004415.4(DSP):c.6630C>T (p.Phe2210=)
|
|
|
|
NM_004415.4(DSP):c.663C>G (p.His221Gln)
|
rs1561683654
|
|
|
NM_004415.4(DSP):c.6640A>C (p.Arg2214=)
|
|
|
|
NM_004415.4(DSP):c.6643C>A (p.Gln2215Lys)
|
|
|
|
NM_004415.4(DSP):c.6648T>G (p.Pro2216=)
|
|
|
|
NM_004415.4(DSP):c.6654C>G (p.Thr2218=)
|
rs727503005
|
|
|
NM_004415.4(DSP):c.665G>T (p.Arg222Leu)
|
|
|
|
NM_004415.4(DSP):c.6667G>A (p.Val2223Ile)
|
|
|
|
NM_004415.4(DSP):c.666G>A (p.Arg222=)
|
|
|
|
NM_004415.4(DSP):c.6675T>C (p.Ser2225=)
|
rs2113700866
|
|
|
NM_004415.4(DSP):c.6697_6698del (p.Val2233fs)
|
rs2113700906
|
|
|
NM_004415.4(DSP):c.6701A>T (p.Asn2234Ile)
|
|
|
|
NM_004415.4(DSP):c.6702T>C (p.Asn2234=)
|
rs2113700924
|
|
|
NM_004415.4(DSP):c.6708G>A (p.Leu2236=)
|
|
|
|
NM_004415.4(DSP):c.6718C>A (p.Gln2240Lys)
|
rs374262024
|
|
|
NM_004415.4(DSP):c.6723T>A (p.Ile2241=)
|
rs1219037519
|
|
|
NM_004415.4(DSP):c.6729T>C (p.Tyr2243=)
|
|
|
|
NM_004415.4(DSP):c.6744G>A (p.Glu2248=)
|
rs1581822997
|
|
|
NM_004415.4(DSP):c.6765G>T (p.Gln2255His)
|
rs766183320
|
|
|
NM_004415.4(DSP):c.6766_6767insTG (p.Gly2256fs)
|
rs2113701020
|
|
|
NM_004415.4(DSP):c.6767del (p.Gly2256fs)
|
rs1759546885
|
|
|
NM_004415.4(DSP):c.6769T>G (p.Ser2257Ala)
|
rs1759547079
|
|
|
NM_004415.4(DSP):c.6771A>G (p.Ser2257=)
|
rs2113701029
|
|
|
NM_004415.4(DSP):c.6776G>T (p.Cys2259Phe)
|
rs754635738
|
|
|
NM_004415.4(DSP):c.6778A>G (p.Ile2260Val)
|
|
|
|
NM_004415.4(DSP):c.6785G>A (p.Gly2262Asp)
|
|
|
|
NM_004415.4(DSP):c.6818G>A (p.Gly2273Asp)
|
|
|
|
NM_004415.4(DSP):c.6826G>A (p.Glu2276Lys)
|
|
|
|
NM_004415.4(DSP):c.6827A>G (p.Glu2276Gly)
|
|
|
|
NM_004415.4(DSP):c.6828G>A (p.Glu2276=)
|
rs2113701105
|
|
|
NM_004415.4(DSP):c.682A>G (p.Ile228Val)
|
rs934038992
|
|
|
NM_004415.4(DSP):c.6849C>G (p.Val2283=)
|
rs2113701124
|
|
|
NM_004415.4(DSP):c.684C>A (p.Ile228=)
|
|
|
|
NM_004415.4(DSP):c.684C>T (p.Ile228=)
|
rs753444512
|
|
|
NM_004415.4(DSP):c.6850C>T (p.Arg2284Ter)
|
rs794728130
|
|
|
NM_004415.4(DSP):c.6851G>A (p.Arg2284Gln)
|
|
|
|
NM_004415.4(DSP):c.6853C>A (p.Pro2285Thr)
|
rs377085222
|
|
|
NM_004415.4(DSP):c.6859A>G (p.Thr2287Ala)
|
|
|
|
NM_004415.4(DSP):c.685G>A (p.Gly229Ser)
|
rs376185352
|
|
|
NM_004415.4(DSP):c.685G>T (p.Gly229Cys)
|
|
|
|
NM_004415.4(DSP):c.6865C>T (p.Leu2289=)
|
|
|
|
NM_004415.4(DSP):c.6871T>C (p.Leu2291=)
|
|
|
|
NM_004415.4(DSP):c.6894T>C (p.Thr2298=)
|
|
|
|
NM_004415.4(DSP):c.6895G>A (p.Gly2299Ser)
|
rs1561703092
|
|
|
NM_004415.4(DSP):c.6896G>C (p.Gly2299Ala)
|
|
|
|
NM_004415.4(DSP):c.6918C>T (p.Ser2306=)
|
rs1275471884
|
|
|
NM_004415.4(DSP):c.6937G>A (p.Glu2313Lys)
|
rs1411539976
|
|
|
NM_004415.4(DSP):c.6937del (p.Glu2313fs)
|
rs794728143
|
|
|
NM_004415.4(DSP):c.6945C>A (p.Ala2315=)
|
rs761888068
|
|
|
NM_004415.4(DSP):c.6946T>C (p.Tyr2316His)
|
|
|
|
NM_004415.4(DSP):c.694C>T (p.Arg232Cys)
|
rs777847026
|
|
|
NM_004415.4(DSP):c.6950A>G (p.Lys2317Arg)
|
|
|
|
NM_004415.4(DSP):c.6953G>C (p.Arg2318Thr)
|
rs773192441
|
|
|
NM_004415.4(DSP):c.6954_6955del (p.Gly2319fs)
|
rs1554108929
|
|
|
NM_004415.4(DSP):c.6955G>A (p.Gly2319Ser)
|
|
|
|
NM_004415.4(DSP):c.6963G>A (p.Val2321=)
|
rs2113701399
|
|
|
NM_004415.4(DSP):c.6967A>C (p.Ile2323Leu)
|
rs1759554116
|
|
|
NM_004415.4(DSP):c.6972G>A (p.Glu2324=)
|
rs2113701409
|
|
|
NM_004415.4(DSP):c.6974T>G (p.Phe2325Cys)
|
rs1349503429
|
|
|
NM_004415.4(DSP):c.698G>A (p.Trp233Ter)
|
|
|
|
NM_004415.4(DSP):c.6993T>C (p.Ser2331=)
|
rs767282172
|
|
|
NM_004415.4(DSP):c.699G>A (p.Trp233Ter)
|
rs397516955
|
|
|
NM_004415.4(DSP):c.7009A>G (p.Thr2337Ala)
|
|
|
|
NM_004415.4(DSP):c.700C>T (p.Gln234Ter)
|
rs1758740270
|
|
|
NM_004415.4(DSP):c.7014G>A (p.Gly2338=)
|
rs1054965369
|
|
|
NM_004415.4(DSP):c.7017T>C (p.Tyr2339=)
|
rs753946358
|
|
|
NM_004415.4(DSP):c.7021G>A (p.Asp2341Asn)
|
rs200314271
|
|
|
NM_004415.4(DSP):c.7031C>G (p.Thr2344Arg)
|
|
|
|
NM_004415.4(DSP):c.7033G>C (p.Gly2345Arg)
|
|
|
|
NM_004415.4(DSP):c.7034G>T (p.Gly2345Val)
|
|
|
|
NM_004415.4(DSP):c.7039A>C (p.Ile2347Leu)
|
rs768837509
|
|
|
NM_004415.4(DSP):c.7044C>T (p.Ile2348=)
|
rs2113701537
|
|
|
NM_004415.4(DSP):c.7045T>C (p.Ser2349Pro)
|
|
|
|
NM_004415.4(DSP):c.7069G>C (p.Glu2357Gln)
|
|
|
|
NM_004415.4(DSP):c.706G>C (p.Asp236His)
|
rs1044634464
|
|
|
NM_004415.4(DSP):c.7075del (p.Ile2359fs)
|
rs1561703363
|
|
|
NM_004415.4(DSP):c.7077C>A (p.Ile2359=)
|
|
|
|
NM_004415.4(DSP):c.7082dup (p.His2363fs)
|
rs2113701589
|
|
|
NM_004415.4(DSP):c.7084G>A (p.Gly2362Ser)
|
|
|
|
NM_004415.4(DSP):c.7090G>A (p.Gly2364Ser)
|
|
|
|
NM_004415.4(DSP):c.7093A>G (p.Ile2365Val)
|
|
|
|
NM_004415.4(DSP):c.7096C>T (p.Arg2366Cys)
|
rs28931610
|
|
|
NM_004415.4(DSP):c.7097G>A (p.Arg2366His)
|
rs387906618
|
|
|
NM_004415.4(DSP):c.7105G>A (p.Glu2369Lys)
|
|
|
|
NM_004415.4(DSP):c.7120A>G (p.Thr2374Ala)
|
rs1759559299
|
|
|
NM_004415.4(DSP):c.7128G>A (p.Gly2376=)
|
|
|
|
NM_004415.4(DSP):c.7129_7152del (p.Ile2377_His2384del)
|
rs2113701695
|
|
|
NM_004415.4(DSP):c.712dup (p.Ile238fs)
|
rs397516956
|
|
|
NM_004415.4(DSP):c.7131C>A (p.Ile2377=)
|
rs1581823562
|
|
|
NM_004415.4(DSP):c.7154G>A (p.Arg2385His)
|
rs1396768987
|
|
|
NM_004415.4(DSP):c.7163T>C (p.Val2388Ala)
|
|
|
|
NM_004415.4(DSP):c.7167C>T (p.Asp2389=)
|
rs2113701740
|
|
|
NM_004415.4(DSP):c.716A>G (p.Lys239Arg)
|
|
|
|
NM_004415.4(DSP):c.7177A>C (p.Lys2393Gln)
|
|
|
|
NM_004415.4(DSP):c.7179G>T (p.Lys2393Asn)
|
rs1759561425
|
|
|
NM_004415.4(DSP):c.717A>G (p.Lys239=)
|
|
|
|
NM_004415.4(DSP):c.7180_7181del (p.Arg2394fs)
|
rs2113701771
|
|
|
NM_004415.4(DSP):c.7183G>A (p.Gly2395Ser)
|
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NM_004415.4(DSP):c.7186T>A (p.Tyr2396Asn)
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rs863225268
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NM_004415.4(DSP):c.718G>C (p.Ala240Pro)
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rs1758741133
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NM_004415.4(DSP):c.71C>G (p.Pro24Arg)
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rs978383808
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NM_004415.4(DSP):c.71C>T (p.Pro24Leu)
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rs978383808
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NM_004415.4(DSP):c.7204A>G (p.Ser2402Gly)
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NM_004415.4(DSP):c.7213C>T (p.Leu2405Phe)
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rs774401264
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NM_004415.4(DSP):c.7214_7217del (p.Leu2405fs)
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NM_004415.4(DSP):c.7217C>G (p.Ser2406Ter)
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rs2113701867
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NM_004415.4(DSP):c.7223C>A (p.Pro2408Gln)
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rs2113701876
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NM_004415.4(DSP):c.7224A>C (p.Pro2408=)
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rs376081052
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NM_004415.4(DSP):c.7240G>T (p.Gly2414Ter)
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rs1194358112
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NM_004415.4(DSP):c.7246T>C (p.Phe2416Leu)
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rs2113701908
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NM_004415.4(DSP):c.7248del (p.Phe2416fs)
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rs730880024
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NM_004415.4(DSP):c.7249G>A (p.Asp2417Asn)
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NM_004415.4(DSP):c.7254dup (p.Asn2419fs)
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NM_004415.4(DSP):c.726+11G>A
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NM_004415.4(DSP):c.726+19T>C
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NM_004415.4(DSP):c.726+20T>G
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NM_004415.4(DSP):c.726+5T>G
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NM_004415.4(DSP):c.726+9_726+12del
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NM_004415.4(DSP):c.7268A>G (p.Asn2423Ser)
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NM_004415.4(DSP):c.7269T>C (p.Asn2423=)
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rs1759564582
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NM_004415.4(DSP):c.726G>A (p.Leu242=)
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NM_004415.4(DSP):c.727-11T>C
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rs886061745
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NM_004415.4(DSP):c.727-12del
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rs2113666826
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NM_004415.4(DSP):c.727-13T>C
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rs1293172796
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NM_004415.4(DSP):c.727-14_727-13del
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NM_004415.4(DSP):c.727-20T>G
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NM_004415.4(DSP):c.727-5_727-3del
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NM_004415.4(DSP):c.727-6T>C
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NM_004415.4(DSP):c.727C>T (p.Arg243Cys)
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rs1191710190
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NM_004415.4(DSP):c.7284A>G (p.Gln2428=)
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rs1759565168
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NM_004415.4(DSP):c.7290A>C (p.Lys2430Asn)
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NM_004415.4(DSP):c.7293_7296del (p.Glu2431fs)
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NM_004415.4(DSP):c.7299C>T (p.Cys2433=)
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rs2113702040
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NM_004415.4(DSP):c.729C>G (p.Arg243=)
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rs141028505
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NM_004415.4(DSP):c.729del (p.Glu244fs)
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NM_004415.4(DSP):c.7305G>C (p.Lys2435Asn)
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rs1554108998
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NM_004415.4(DSP):c.7307A>T (p.Asp2436Val)
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NM_004415.4(DSP):c.7320G>C (p.Gly2440=)
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NM_004415.4(DSP):c.7322T>C (p.Leu2441Pro)
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NM_004415.4(DSP):c.7325_7326del (p.Cys2442fs)
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NM_004415.4(DSP):c.7327C>T (p.Leu2443Phe)
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rs864309585
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NM_004415.4(DSP):c.7335T>A (p.Pro2445=)
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rs1262869578
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NM_004415.4(DSP):c.7339A>G (p.Lys2447Glu)
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rs1759567175
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NM_004415.4(DSP):c.7346A>C (p.Lys2449Thr)
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rs1581823888
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NM_004415.4(DSP):c.7347GAA[1] (p.Lys2451del)
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rs766860183
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NM_004415.4(DSP):c.7359G>A (p.Val2453=)
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rs2113702163
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NM_004415.4(DSP):c.735A>G (p.Lys245=)
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NM_004415.4(DSP):c.7360C>G (p.Gln2454Glu)
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rs373890201
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NM_004415.4(DSP):c.7370A>C (p.Gln2457Pro)
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rs1206306343
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NM_004415.4(DSP):c.7372A>G (p.Lys2458Glu)
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rs1759568876
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NM_004415.4(DSP):c.7372_7373del (p.Lys2458fs)
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rs1581823931
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NM_004415.4(DSP):c.7374G>T (p.Lys2458Asn)
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NM_004415.4(DSP):c.7381C>T (p.Leu2461Phe)
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rs201863784
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NM_004415.4(DSP):c.7382T>A (p.Leu2461His)
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NM_004415.4(DSP):c.7385G>A (p.Arg2462Lys)
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NM_004415.4(DSP):c.7393_7400del (p.Arg2465fs)
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rs2113702255
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NM_004415.4(DSP):c.73G>T (p.Asp25Tyr)
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rs2113628779
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NM_004415.4(DSP):c.7410C>T (p.Asp2470=)
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rs2113702276
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NM_004415.4(DSP):c.7418C>T (p.Thr2473Ile)
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rs1389902511
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NM_004415.4(DSP):c.741G>C (p.Ala247=)
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NM_004415.4(DSP):c.7420A>T (p.Asn2474Tyr)
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NM_004415.4(DSP):c.7421A>G (p.Asn2474Ser)
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rs1759570598
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NM_004415.4(DSP):c.742A>G (p.Ile248Val)
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NM_004415.4(DSP):c.743T>C (p.Ile248Thr)
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rs1455602530
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NM_004415.4(DSP):c.7443G>A (p.Glu2481=)
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rs2113702324
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NM_004415.4(DSP):c.7456G>A (p.Gly2486Ser)
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NM_004415.4(DSP):c.7458C>T (p.Gly2486=)
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rs1049252239
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NM_004415.4(DSP):c.7469del (p.Tyr2490fs)
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rs1581824066
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NM_004415.4(DSP):c.7477T>G (p.Phe2493Val)
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rs138798656
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NM_004415.4(DSP):c.7480A>G (p.Lys2494Glu)
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NM_004415.4(DSP):c.7481A>G (p.Lys2494Arg)
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NM_004415.4(DSP):c.7488G>C (p.Leu2496=)
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NM_004415.4(DSP):c.7497G>A (p.Gln2499=)
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NM_004415.4(DSP):c.7499A>G (p.Glu2500Gly)
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NM_004415.4(DSP):c.7503_7508del (p.Cys2501_Glu2502del)
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rs1473818298
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NM_004415.4(DSP):c.7526C>T (p.Thr2509Met)
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NM_004415.4(DSP):c.7528G>A (p.Gly2510Arg)
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NM_004415.4(DSP):c.7529del (p.Gly2510fs)
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rs2113702487
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NM_004415.4(DSP):c.7534G>C (p.Asp2512His)
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NM_004415.4(DSP):c.7541C>T (p.Ser2514Phe)
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NM_004415.4(DSP):c.7543_7544delinsCGTGGTATCTGGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCCGTGGTAA (p.Thr2515delinsArgGlyIleTrpGluAlaTyrLysLysGlyLeuIleAspTyrGluThrPheLysGluLeuCysGluGlnGluCysGluTrpGluGluIleThrIleThrGlySerAspGlySerArgGlyAsn)
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rs2113702542
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NM_004415.4(DSP):c.7554C>A (p.Val2518=)
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rs573057380
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NM_004415.4(DSP):c.7554C>T (p.Val2518=)
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NM_004415.4(DSP):c.7557G>A (p.Leu2519=)
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rs397516957
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NM_004415.4(DSP):c.7557G>T (p.Leu2519=)
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NM_004415.4(DSP):c.7563_7566del (p.Asp2521fs)
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rs1320456072
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NM_004415.4(DSP):c.7567_7570del (p.Lys2523fs)
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rs1759580297
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NM_004415.4(DSP):c.7570_7573del (p.Thr2524fs)
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rs1561703922
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NM_004415.4(DSP):c.7579C>G (p.Gln2527Glu)
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rs2113702673
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NM_004415.4(DSP):c.7581G>A (p.Gln2527=)
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rs879254350
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NM_004415.4(DSP):c.7582T>G (p.Tyr2528Asp)
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rs2113702680
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NM_004415.4(DSP):c.7585G>A (p.Asp2529Asn)
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rs1759581655
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NM_004415.4(DSP):c.7588A>G (p.Ile2530Val)
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rs397516958
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NM_004415.4(DSP):c.7589T>C (p.Ile2530Thr)
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rs768564872
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NM_004415.4(DSP):c.7598C>G (p.Ala2533Gly)
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NM_004415.4(DSP):c.7604A>G (p.Asp2535Gly)
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rs1759583033
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NM_004415.4(DSP):c.7608G>A (p.Lys2536=)
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rs2113702785
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NM_004415.4(DSP):c.7610G>A (p.Gly2537Asp)
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NM_004415.4(DSP):c.7610G>T (p.Gly2537Val)
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NM_004415.4(DSP):c.7611C>T (p.Gly2537=)
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NM_004415.4(DSP):c.7618G>C (p.Asp2540His)
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NM_004415.4(DSP):c.7619A>T (p.Asp2540Val)
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NM_004415.4(DSP):c.7620C>A (p.Asp2540Glu)
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rs2113702817
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NM_004415.4(DSP):c.7621A>C (p.Arg2541=)
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NM_004415.4(DSP):c.7623del (p.Lys2542fs)
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rs397514039
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NM_004415.4(DSP):c.762G>T (p.Glu254Asp)
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rs1406835654
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NM_004415.4(DSP):c.7633G>T (p.Asp2545Tyr)
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NM_004415.4(DSP):c.7635T>G (p.Asp2545Glu)
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rs1759584844
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NM_004415.4(DSP):c.7636C>G (p.Gln2546Glu)
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NM_004415.4(DSP):c.7641C>T (p.Tyr2547=)
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NM_004415.4(DSP):c.7642C>G (p.Arg2548Gly)
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NM_004415.4(DSP):c.7642C>T (p.Arg2548Ter)
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rs146296069
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NM_004415.4(DSP):c.7643G>A (p.Arg2548Gln)
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rs377565339
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NM_004415.4(DSP):c.7646C>T (p.Ser2549Phe)
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NM_004415.4(DSP):c.7647C>T (p.Ser2549=)
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rs765385403
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NM_004415.4(DSP):c.7648G>A (p.Gly2550Ser)
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rs781151826
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NM_004415.4(DSP):c.7648G>C (p.Gly2550Arg)
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rs781151826
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NM_004415.4(DSP):c.7650C>G (p.Gly2550=)
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NM_004415.4(DSP):c.7656C>G (p.Leu2552=)
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NM_004415.4(DSP):c.7656C>T (p.Leu2552=)
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rs954061184
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NM_004415.4(DSP):c.7657A>G (p.Ser2553Gly)
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rs769601021
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NM_004415.4(DSP):c.7662del (p.Thr2555fs)
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NM_004415.4(DSP):c.7667A>T (p.Gln2556Leu)
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rs760434412
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NM_004415.4(DSP):c.7668A>G (p.Gln2556=)
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NM_004415.4(DSP):c.7675G>A (p.Asp2559Asn)
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rs2113702999
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NM_004415.4(DSP):c.7679T>C (p.Met2560Thr)
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NM_004415.4(DSP):c.7685_7687del (p.Ser2562del)
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rs762495630
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NM_004415.4(DSP):c.7689G>C (p.Leu2563Phe)
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NM_004415.4(DSP):c.7689_7694dup (p.Lys2564_Asn2565insLysLys)
|
rs1554109062
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NM_004415.4(DSP):c.769A>G (p.Asn257Asp)
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rs1758773914
|
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NM_004415.4(DSP):c.7701C>G (p.Val2567=)
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NM_004415.4(DSP):c.7706C>A (p.Thr2569Asn)
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NM_004415.4(DSP):c.7708A>G (p.Ser2570Gly)
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rs1456123705
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NM_004415.4(DSP):c.7716C>T (p.Ser2572=)
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rs773824736
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NM_004415.4(DSP):c.7718T>C (p.Met2573Thr)
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rs1759589574
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NM_004415.4(DSP):c.7725T>C (p.Ser2575=)
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NM_004415.4(DSP):c.7728T>G (p.Gly2576=)
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rs545149894
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NM_004415.4(DSP):c.7735G>C (p.Asp2579His)
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rs750744914
|
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NM_004415.4(DSP):c.7736A>T (p.Asp2579Val)
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NM_004415.4(DSP):c.7738del (p.Asp2580fs)
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NM_004415.4(DSP):c.7745_7746del (p.Val2581_Phe2582insTer)
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NM_004415.4(DSP):c.7752C>T (p.Ser2584=)
|
rs1554109092
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NM_004415.4(DSP):c.7754C>T (p.Ser2585Phe)
|
rs1018344778
|
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NM_004415.4(DSP):c.7756C>G (p.Arg2586Gly)
|
rs1420689736
|
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NM_004415.4(DSP):c.7758A>G (p.Arg2586=)
|
rs1581824761
|
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NM_004415.4(DSP):c.7762G>T (p.Glu2588Ter)
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NM_004415.4(DSP):c.776T>C (p.Leu259Pro)
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rs1758774627
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NM_004415.4(DSP):c.777+19C>T
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NM_004415.4(DSP):c.777+2T>C
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NM_004415.4(DSP):c.777+5G>A
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NM_004415.4(DSP):c.777+7T>C
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NM_004415.4(DSP):c.7773_7776del (p.Ser2591fs)
|
rs763560697
|
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NM_004415.4(DSP):c.7779T>A (p.Ile2593=)
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NM_004415.4(DSP):c.778-11C>A
|
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NM_004415.4(DSP):c.778-11C>T
|
rs766022259
|
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NM_004415.4(DSP):c.778-12C>T
|
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NM_004415.4(DSP):c.778-15G>A
|
rs2113669114
|
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NM_004415.4(DSP):c.778-20C>A
|
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NM_004415.4(DSP):c.778-2A>G
|
rs113726158
|
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NM_004415.4(DSP):c.778-4G>C
|
rs1296932263
|
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NM_004415.4(DSP):c.778-6G>A
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NM_004415.4(DSP):c.7809C>T (p.Thr2603=)
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NM_004415.4(DSP):c.780A>G (p.Lys260=)
|
rs1554106489
|
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NM_004415.4(DSP):c.7817G>A (p.Ser2606Asn)
|
rs199597935
|
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NM_004415.4(DSP):c.781G>A (p.Ala261Thr)
|
rs967465931
|
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NM_004415.4(DSP):c.7820G>T (p.Ser2607Ile)
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NM_004415.4(DSP):c.7820del (p.Ser2607fs)
|
rs2113703361
|
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NM_004415.4(DSP):c.7823C>A (p.Ser2608Tyr)
|
rs777066674
|
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NM_004415.4(DSP):c.7823C>T (p.Ser2608Phe)
|
rs777066674
|
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NM_004415.4(DSP):c.7829C>G (p.Ser2610Ter)
|
rs1163244913
|
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NM_004415.4(DSP):c.7832A>T (p.Asp2611Val)
|
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NM_004415.4(DSP):c.7836C>G (p.Thr2612=)
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NM_004415.4(DSP):c.7837C>G (p.Leu2613Val)
|
rs1286275087
|
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NM_004415.4(DSP):c.7837C>T (p.Leu2613=)
|
rs1286275087
|
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NM_004415.4(DSP):c.7839G>A (p.Leu2613=)
|
rs770324205
|
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NM_004415.4(DSP):c.7845A>C (p.Glu2615Asp)
|
rs1367058874
|
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NM_004415.4(DSP):c.7861G>A (p.Ala2621Thr)
|
rs1554109107
|
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NM_004415.4(DSP):c.7868T>G (p.Phe2623Cys)
|
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NM_004415.4(DSP):c.7873dup (p.Thr2625fs)
|
rs794728149
|
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NM_004415.4(DSP):c.7874_7875del (p.Thr2625fs)
|
rs1561704475
|
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NM_004415.4(DSP):c.7876_7877del (p.Glu2626fs)
|
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NM_004415.4(DSP):c.7886A>G (p.Glu2629Gly)
|
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NM_004415.4(DSP):c.7893C>A (p.Ile2631=)
|
rs778552693
|
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NM_004415.4(DSP):c.7893C>T (p.Ile2631=)
|
rs778552693
|
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NM_004415.4(DSP):c.7894T>C (p.Ser2632Pro)
|
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NM_004415.4(DSP):c.78G>A (p.Leu26=)
|
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NM_004415.4(DSP):c.78G>T (p.Leu26=)
|
rs71559180
|
|
|
NM_004415.4(DSP):c.7907G>A (p.Gly2636Asp)
|
rs1759605211
|
|
|
NM_004415.4(DSP):c.7909A>G (p.Ile2637Val)
|
rs1759605309
|
|
|
NM_004415.4(DSP):c.7911A>G (p.Ile2637Met)
|
rs2113703589
|
|
|
NM_004415.4(DSP):c.7918_7919dup (p.Ile2641fs)
|
rs1759606062
|
|
|
NM_004415.4(DSP):c.7920C>T (p.Gly2640=)
|
|
|
|
NM_004415.4(DSP):c.7927G>A (p.Asp2643Asn)
|
|
|
|
NM_004415.4(DSP):c.793_794del (p.Arg265fs)
|
rs2113669181
|
|
|
NM_004415.4(DSP):c.7942C>G (p.Gln2648Glu)
|
rs2113703697
|
|
|
NM_004415.4(DSP):c.7947G>A (p.Arg2649=)
|
|
|
|
NM_004415.4(DSP):c.7951C>T (p.Leu2651=)
|
|
|
|
NM_004415.4(DSP):c.795G>C (p.Arg265Ser)
|
|
|
|
NM_004415.4(DSP):c.7960C>T (p.Gln2654Ter)
|
|
|
|
NM_004415.4(DSP):c.7963G>T (p.Ala2655Ser)
|
|
|
|
NM_004415.4(DSP):c.7968C>T (p.Cys2656=)
|
rs2113703768
|
|
|
NM_004415.4(DSP):c.7968_7972del (p.Cys2656fs)
|
|
|
|
NM_004415.4(DSP):c.796A>C (p.Met266Leu)
|
rs1758827543
|
|
|
NM_004415.4(DSP):c.7971A>G (p.Thr2657=)
|
rs2113703783
|
|
|
NM_004415.4(DSP):c.7986C>T (p.His2662=)
|
rs753720770
|
|
|
NM_004415.4(DSP):c.7987C>G (p.Pro2663Ala)
|
|
|
|
NM_004415.4(DSP):c.7989A>G (p.Pro2663=)
|
|
|
|
NM_004415.4(DSP):c.7991C>A (p.Thr2664Asn)
|
rs1759611499
|
|
|
NM_004415.4(DSP):c.7997G>A (p.Gly2666Asp)
|
rs750085948
|
|
|
NM_004415.4(DSP):c.7997del (p.Gly2666fs)
|
|
|
|
NM_004415.4(DSP):c.8000A>G (p.Gln2667Arg)
|
|
|
|
NM_004415.4(DSP):c.8004G>A (p.Lys2668=)
|
rs1581825294
|
|
|
NM_004415.4(DSP):c.8007G>A (p.Leu2669=)
|
rs746561567
|
|
|
NM_004415.4(DSP):c.8014C>T (p.Gln2672Ter)
|
rs1064793890
|
|
|
NM_004415.4(DSP):c.8014dup (p.Gln2672fs)
|
|
|
|
NM_004415.4(DSP):c.801T>A (p.Asp267Glu)
|
|
|
|
NM_004415.4(DSP):c.8021C>G (p.Ala2674Gly)
|
rs778480531
|
|
|
NM_004415.4(DSP):c.8035G>A (p.Val2679Met)
|
|
|
|
NM_004415.4(DSP):c.8040dup (p.Asp2681Ter)
|
|
|
|
NM_004415.4(DSP):c.8041_8042del (p.Asp2681fs)
|
|
|
|
NM_004415.4(DSP):c.8052G>A (p.Met2684Ile)
|
rs1408242511
|
|
|
NM_004415.4(DSP):c.8064G>A (p.Leu2688=)
|
rs1581825424
|
|
|
NM_004415.4(DSP):c.8067G>C (p.Lys2689Asn)
|
|
|
|
NM_004415.4(DSP):c.8071G>C (p.Ala2691Pro)
|
rs1006955897
|
|
|
NM_004415.4(DSP):c.8077_8080del (p.Lys2693fs)
|
rs879254352
|
|
|
NM_004415.4(DSP):c.807G>A (p.Leu269=)
|
|
|
|
NM_004415.4(DSP):c.8084T>G (p.Phe2695Cys)
|
rs764994940
|
|
|
NM_004415.4(DSP):c.8085C>A (p.Phe2695Leu)
|
rs1759617585
|
|
|
NM_004415.4(DSP):c.808C>T (p.Arg270Ter)
|
|
|
|
NM_004415.4(DSP):c.8093T>C (p.Phe2698Ser)
|
rs1759618009
|
|
|
NM_004415.4(DSP):c.8095G>C (p.Glu2699Gln)
|
|
|
|
NM_004415.4(DSP):c.8101G>A (p.Val2701Met)
|
rs1561704928
|
|
|
NM_004415.4(DSP):c.8106G>A (p.Lys2702=)
|
|
|
|
NM_004415.4(DSP):c.8111AGA[2] (p.Lys2706del)
|
rs397516962
|
|
|
NM_004415.4(DSP):c.8115G>A (p.Lys2705=)
|
rs1759619330
|
|
|
NM_004415.4(DSP):c.8121G>T (p.Met2707Ile)
|
rs2113704161
|
|
|
NM_004415.4(DSP):c.8122T>A (p.Ser2708Thr)
|
rs924262414
|
|
|
NM_004415.4(DSP):c.8130A>G (p.Ala2710=)
|
rs1440748149
|
|
|
NM_004415.4(DSP):c.8133G>A (p.Glu2711=)
|
rs375348086
|
|
|
NM_004415.4(DSP):c.8138T>G (p.Val2713Gly)
|
rs1759621076
|
|
|
NM_004415.4(DSP):c.8139G>A (p.Val2713=)
|
|
|
|
NM_004415.4(DSP):c.8139G>C (p.Val2713=)
|
rs555992606
|
|
|
NM_004415.4(DSP):c.8140A>T (p.Lys2714Ter)
|
|
|
|
NM_004415.4(DSP):c.8143del (p.Glu2715fs)
|
|
|
|
NM_004415.4(DSP):c.8148A>G (p.Lys2716=)
|
|
|
|
NM_004415.4(DSP):c.8149T>C (p.Trp2717Arg)
|
rs1554109176
|
|
|
NM_004415.4(DSP):c.8152C>G (p.Leu2718Val)
|
|
|
|
NM_004415.4(DSP):c.8156del (p.Pro2719fs)
|
rs1554109181
|
|
|
NM_004415.4(DSP):c.8159A>G (p.Tyr2720Cys)
|
rs367972703
|
|
|
NM_004415.4(DSP):c.8165C>G (p.Ala2722Gly)
|
|
|
|
NM_004415.4(DSP):c.8169C>G (p.Gly2723=)
|
rs1259495339
|
|
|
NM_004415.4(DSP):c.8170C>T (p.Gln2724Ter)
|
rs879254353
|
|
|
NM_004415.4(DSP):c.8171A>G (p.Gln2724Arg)
|
rs1759623133
|
|
|
NM_004415.4(DSP):c.8173del (p.Arg2725fs)
|
rs1759623444
|
|
|
NM_004415.4(DSP):c.8178C>T (p.Phe2726=)
|
rs901698792
|
|
|
NM_004415.4(DSP):c.8179C>T (p.Leu2727=)
|
|
|
|
NM_004415.4(DSP):c.8182dup (p.Glu2728fs)
|
rs1554109187
|
|
|
NM_004415.4(DSP):c.8187C>T (p.Phe2729=)
|
rs369619485
|
|
|
NM_004415.4(DSP):c.8188del (p.Gln2730fs)
|
rs886038929
|
|
|
NM_004415.4(DSP):c.818dup (p.Asn274fs)
|
rs1758828554
|
|
|
NM_004415.4(DSP):c.8193C>G (p.Tyr2731Ter)
|
rs2113704410
|
|
|
NM_004415.4(DSP):c.8195T>G (p.Leu2732Arg)
|
|
|
|
NM_004415.4(DSP):c.8197A>C (p.Thr2733Pro)
|
|
|
|
NM_004415.4(DSP):c.8199G>A (p.Thr2733=)
|
rs145085696
|
|
|
NM_004415.4(DSP):c.8199G>T (p.Thr2733=)
|
|
|
|
NM_004415.4(DSP):c.81C>A (p.Arg27=)
|
rs773559423
|
|
|
NM_004415.4(DSP):c.81C>G (p.Arg27=)
|
|
|
|
NM_004415.4(DSP):c.8201G>A (p.Gly2734Glu)
|
rs1561705241
|
|
|
NM_004415.4(DSP):c.8207T>A (p.Leu2736His)
|
rs1759625908
|
|
|
NM_004415.4(DSP):c.8211T>G (p.Val2737=)
|
rs543240936
|
|
|
NM_004415.4(DSP):c.8216C>G (p.Pro2739Arg)
|
rs761527198
|
|
|
NM_004415.4(DSP):c.8218G>C (p.Glu2740Gln)
|
|
|
|
NM_004415.4(DSP):c.8230A>G (p.Arg2744Gly)
|
rs1198357388
|
|
|
NM_004415.4(DSP):c.8232G>A (p.Arg2744=)
|
rs780253169
|
|
|
NM_004415.4(DSP):c.8238C>T (p.Ser2746=)
|
rs781351433
|
|
|
NM_004415.4(DSP):c.8241C>G (p.Thr2747=)
|
|
|
|
NM_004415.4(DSP):c.8241C>T (p.Thr2747=)
|
|
|
|
NM_004415.4(DSP):c.8242G>A (p.Glu2748Lys)
|
|
|
|
NM_004415.4(DSP):c.8249C>T (p.Ala2750Val)
|
|
|
|
NM_004415.4(DSP):c.8252T>C (p.Ile2751Thr)
|
|
|
|
NM_004415.4(DSP):c.8252T>G (p.Ile2751Ser)
|
|
|
|
NM_004415.4(DSP):c.8253C>A (p.Ile2751=)
|
rs1165200201
|
|
|
NM_004415.4(DSP):c.8255G>C (p.Arg2752Pro)
|
rs769706539
|
|
|
NM_004415.4(DSP):c.8257A>C (p.Lys2753Gln)
|
rs1554109205
|
|
|
NM_004415.4(DSP):c.8262G>A (p.Gly2754=)
|
rs187226788
|
|
|
NM_004415.4(DSP):c.8262G>T (p.Gly2754=)
|
rs187226788
|
|
|
NM_004415.4(DSP):c.8272G>A (p.Gly2758Ser)
|
|
|
|
NM_004415.4(DSP):c.8275C>T (p.Arg2759Cys)
|
rs148254632
|
|
|
NM_004415.4(DSP):c.8276G>A (p.Arg2759His)
|
rs936541705
|
|
|
NM_004415.4(DSP):c.827_830del (p.Ile276fs)
|
rs1758828907
|
|
|
NM_004415.4(DSP):c.8280C>T (p.Ala2760=)
|
rs1203424345
|
|
|
NM_004415.4(DSP):c.8284C>T (p.Gln2762Ter)
|
rs376703565
|
|
|
NM_004415.4(DSP):c.8288G>A (p.Arg2763Lys)
|
|
|
|
NM_004415.4(DSP):c.8291_8292insTGCT (p.Gln2765fs)
|
rs756925801
|
|
|
NM_004415.4(DSP):c.8296G>A (p.Asp2766Asn)
|
rs1759633378
|
|
|
NM_004415.4(DSP):c.8299A>G (p.Thr2767Ala)
|
rs1304137526
|
|
|
NM_004415.4(DSP):c.829C>T (p.Gln277Ter)
|
|
|
|
NM_004415.4(DSP):c.8300C>G (p.Thr2767Ser)
|
|
|
|
NM_004415.4(DSP):c.8300C>T (p.Thr2767Ile)
|
rs34884895
|
|
|
NM_004415.4(DSP):c.8302A>G (p.Ser2768Gly)
|
|
|
|
NM_004415.4(DSP):c.8304C>G (p.Ser2768Arg)
|
|
|
|
NM_004415.4(DSP):c.8316A>C (p.Lys2772Asn)
|
|
|
|
NM_004415.4(DSP):c.8316A>G (p.Lys2772=)
|
rs2113704844
|
|
|
NM_004415.4(DSP):c.8319C>G (p.Ile2773Met)
|
|
|
|
NM_004415.4(DSP):c.8319_8341del (p.Leu2774fs)
|
rs2113704840
|
|
|
NM_004415.4(DSP):c.8320C>T (p.Leu2774=)
|
rs397516964
|
|
|
NM_004415.4(DSP):c.8322G>A (p.Leu2774=)
|
rs1455098095
|
|
|
NM_004415.4(DSP):c.8325C>G (p.Thr2775=)
|
rs2113704869
|
|
|
NM_004415.4(DSP):c.8330C>T (p.Pro2777Leu)
|
|
|
|
NM_004415.4(DSP):c.8342T>C (p.Leu2781Ser)
|
|
|
|
NM_004415.4(DSP):c.8343A>T (p.Leu2781Phe)
|
|
|
|
NM_004415.4(DSP):c.8346A>T (p.Lys2782Asn)
|
|
|
|
NM_004415.4(DSP):c.8354A>G (p.Tyr2785Cys)
|
|
|
|
NM_004415.4(DSP):c.8363C>T (p.Ala2788Val)
|
rs748307773
|
|
|
NM_004415.4(DSP):c.836C>T (p.Thr279Met)
|
rs1758829264
|
|
|
NM_004415.4(DSP):c.8371C>G (p.Arg2791Gly)
|
rs867430601
|
|
|
NM_004415.4(DSP):c.8371C>T (p.Arg2791Cys)
|
rs867430601
|
|
|
NM_004415.4(DSP):c.8382A>G (p.Val2794=)
|
rs1025921677
|
|
|
NM_004415.4(DSP):c.8386G>A (p.Asp2796Asn)
|
|
|
|
NM_004415.4(DSP):c.8386G>C (p.Asp2796His)
|
|
|
|
NM_004415.4(DSP):c.8387A>G (p.Asp2796Gly)
|
|
|
|
NM_004415.4(DSP):c.8387A>T (p.Asp2796Val)
|
rs888716643
|
|
|
NM_004415.4(DSP):c.8388T>C (p.Asp2796=)
|
rs1478242707
|
|
|
NM_004415.4(DSP):c.8390del (p.Ile2797fs)
|
|
|
|
NM_004415.4(DSP):c.8391C>A (p.Ile2797=)
|
rs372909009
|
|
|
NM_004415.4(DSP):c.8392A>T (p.Thr2798Ser)
|
rs771976131
|
|
|
NM_004415.4(DSP):c.8396G>C (p.Gly2799Ala)
|
|
|
|
NM_004415.4(DSP):c.8401C>T (p.Arg2801Cys)
|
rs760215987
|
|
|
NM_004415.4(DSP):c.8403C>G (p.Arg2801=)
|
|
|
|
NM_004415.4(DSP):c.8414C>G (p.Ala2805Gly)
|
|
|
|
NM_004415.4(DSP):c.8414C>T (p.Ala2805Val)
|
|
|
|
NM_004415.4(DSP):c.8417C>T (p.Ala2806Val)
|
|
|
|
NM_004415.4(DSP):c.8418C>A (p.Ala2806=)
|
rs1581826536
|
|
|
NM_004415.4(DSP):c.8426C>T (p.Ser2809Leu)
|
|
|
|
NM_004415.4(DSP):c.8438T>C (p.Leu2813Ser)
|
|
|
|
NM_004415.4(DSP):c.843G>A (p.Arg281=)
|
rs1427960878
|
|
|
NM_004415.4(DSP):c.8440C>A (p.Pro2814Thr)
|
rs1303168294
|
|
|
NM_004415.4(DSP):c.8442C>A (p.Pro2814=)
|
rs1581826610
|
|
|
NM_004415.4(DSP):c.8442C>T (p.Pro2814=)
|
rs1581826610
|
|
|
NM_004415.4(DSP):c.8442dup (p.Ser2815fs)
|
rs1554109247
|
|
|
NM_004415.4(DSP):c.8450A>G (p.Tyr2817Cys)
|
|
|
|
NM_004415.4(DSP):c.8450ACA[1] (p.Asn2818del)
|
|
|
|
NM_004415.4(DSP):c.8451C>T (p.Tyr2817=)
|
|
|
|
NM_004415.4(DSP):c.8455A>G (p.Met2819Val)
|
rs138329459
|
|
|
NM_004415.4(DSP):c.8462_8463del (p.Ser2821fs)
|
rs2113705206
|
|
|
NM_004415.4(DSP):c.8463G>A (p.Ser2821=)
|
|
|
|
NM_004415.4(DSP):c.8468C>T (p.Pro2823Leu)
|
rs1404710139
|
|
|
NM_004415.4(DSP):c.8469_8487del (p.Gly2824fs)
|
rs2113705210
|
|
|
NM_004415.4(DSP):c.8471_8483del (p.Gly2824fs)
|
rs1759642975
|
|
|
NM_004415.4(DSP):c.8472_8483del (p.2827_2830SGSR[4])
|
rs397516967
|
|
|
NM_004415.4(DSP):c.8472_8495del (p.2827SGSR[3])
|
rs1267022420
|
|
|
NM_004415.4(DSP):c.8476C>A (p.Arg2826Ser)
|
rs139969658
|
|
|
NM_004415.4(DSP):c.8476C>G (p.Arg2826Gly)
|
rs139969658
|
|
|
NM_004415.4(DSP):c.8478C>T (p.Arg2826=)
|
|
|
|
NM_004415.4(DSP):c.8480C>T (p.Ser2827Phe)
|
rs746773800
|
|
|
NM_004415.4(DSP):c.8481C>G (p.Ser2827=)
|
|
|
|
NM_004415.4(DSP):c.8481_8492del (p.2827_2830SGSR[4])
|
rs397516968
|
|
|
NM_004415.4(DSP):c.8482G>C (p.Gly2828Arg)
|
rs369682599
|
|
|
NM_004415.4(DSP):c.8484C>T (p.Gly2828=)
|
rs1467235605
|
|
|
NM_004415.4(DSP):c.8484_8507del (p.2827SGSR[3])
|
|
|
|
NM_004415.4(DSP):c.8486C>G (p.Ser2829Cys)
|
rs2113705415
|
|
|
NM_004415.4(DSP):c.8488C>A (p.Arg2830Ser)
|
rs1354218745
|
|
|
NM_004415.4(DSP):c.8488C>T (p.Arg2830Cys)
|
rs1354218745
|
|
|
NM_004415.4(DSP):c.848T>G (p.Ile283Ser)
|
|
|
|
NM_004415.4(DSP):c.8490C>A (p.Arg2830=)
|
rs1221382084
|
|
|
NM_004415.4(DSP):c.8493G>A (p.Ser2831=)
|
rs397516969
|
|
|
NM_004415.4(DSP):c.8493_8504del (p.2827SGSR[4])
|
rs748194022
|
|
|
NM_004415.4(DSP):c.8493_8504dup (p.2827_2830SGSR[6])
|
rs748194022
|
|
|
NM_004415.4(DSP):c.8493_8516del (p.2827_2830SGSR[3])
|
rs1554109280
|
|
|
NM_004415.4(DSP):c.8496A>C (p.Gly2832=)
|
rs760011967
|
|
|
NM_004415.4(DSP):c.8496ATCTCGCTCCGG[1] (p.2827SGSR[4])
|
rs397516971
|
|
|
NM_004415.4(DSP):c.8496ATCTCGCTCCGG[3] (p.2827SGSR[6])
|
rs397516971
|
|
|
NM_004415.4(DSP):c.8496_8500dup (p.Arg2834fs)
|
|
|
|
NM_004415.4(DSP):c.8499T>C (p.Ser2833=)
|
rs1468666445
|
|
|
NM_004415.4(DSP):c.84C>A (p.Tyr28Ter)
|
|
|
|
NM_004415.4(DSP):c.8501G>A (p.Arg2834His)
|
rs121912999
|
|
|
NM_004415.4(DSP):c.8505C>G (p.Ser2835=)
|
|
|
|
NM_004415.4(DSP):c.8506G>A (p.Gly2836Arg)
|
|
|
|
NM_004415.4(DSP):c.8512C>T (p.Arg2838Cys)
|
|
|
|
NM_004415.4(DSP):c.8513G>A (p.Arg2838His)
|
rs930055191
|
|
|
NM_004415.4(DSP):c.8515_8517delinsAGT (p.Ser2839=)
|
rs1554109285
|
|
|
NM_004415.4(DSP):c.8516C>G (p.Ser2839Cys)
|
rs750438076
|
|
|
NM_004415.4(DSP):c.8516C>T (p.Ser2839Phe)
|
rs750438076
|
|
|
NM_004415.4(DSP):c.8524C>G (p.Arg2842Gly)
|
|
|
|
NM_004415.4(DSP):c.8525G>A (p.Arg2842His)
|
|
|
|
NM_004415.4(DSP):c.8526C>T (p.Arg2842=)
|
|
|
|
NM_004415.4(DSP):c.8529_8540del (p.2827_2830SGSR[4])
|
rs794728151
|
|
|
NM_004415.4(DSP):c.852G>A (p.Met284Ile)
|
rs794728110
|
|
|
NM_004415.4(DSP):c.8531G>T (p.Gly2844Val)
|
rs374137476
|
|
|
NM_004415.4(DSP):c.8536C>T (p.Arg2846Trp)
|
|
|
|
NM_004415.4(DSP):c.8544A>T (p.Gly2848=)
|
|
|
|
NM_004415.4(DSP):c.8552A>G (p.Asp2851Gly)
|
|
|
|
NM_004415.4(DSP):c.8553C>T (p.Asp2851=)
|
rs1554109307
|
|
|
NM_004415.4(DSP):c.8556C>T (p.Ala2852=)
|
rs1163538965
|
|
|
NM_004415.4(DSP):c.8559A>C (p.Thr2853=)
|
rs1759653585
|
|
|
NM_004415.4(DSP):c.8559A>G (p.Thr2853=)
|
rs1759653585
|
|
|
NM_004415.4(DSP):c.8573A>G (p.Tyr2858Cys)
|
rs1759654706
|
|
|
NM_004415.4(DSP):c.8577_8588del (p.2858YS[1])
|
rs2113705755
|
|
|
NM_004415.4(DSP):c.8579A>G (p.Tyr2860Cys)
|
|
|
|
NM_004415.4(DSP):c.8582C>T (p.Ser2861Phe)
|
rs1269834512
|
|
|
NM_004415.4(DSP):c.8583C>T (p.Ser2861=)
|
|
|
|
NM_004415.4(DSP):c.8583del (p.Tyr2862fs)
|
rs765683790
|
|
|
NM_004415.4(DSP):c.8586C>T (p.Tyr2862=)
|
|
|
|
NM_004415.4(DSP):c.8588C>T (p.Ser2863Leu)
|
|
|
|
NM_004415.4(DSP):c.8596AGT[1] (p.Ser2868del)
|
|
|
|
NM_004415.4(DSP):c.8598T>C (p.Ser2866=)
|
|
|
|
NM_004415.4(DSP):c.859A>C (p.Asn287His)
|
rs1554106503
|
|
|
NM_004415.4(DSP):c.85G>A (p.Glu29Lys)
|
|
|
|
NM_004415.4(DSP):c.85G>T (p.Glu29Ter)
|
rs1320349488
|
|
|
NM_004415.4(DSP):c.8601T>C (p.Ser2867=)
|
|
|
|
NM_004415.4(DSP):c.8602T>A (p.Ser2868Thr)
|
rs1554109346
|
|
|
NM_004415.4(DSP):c.860A>C (p.Asn287Thr)
|
|
|
|
NM_004415.4(DSP):c.865T>C (p.Cys289Arg)
|
|
|
|
NM_004415.4(DSP):c.867C>A (p.Cys289Ter)
|
rs397516973
|
|
|
NM_004415.4(DSP):c.868G>A (p.Glu290Lys)
|
rs397516974
|
|
|
NM_004415.4(DSP):c.868GAG[5] (p.Glu293dup)
|
rs1561685368
|
|
|
NM_004415.4(DSP):c.877G>A (p.Glu293Lys)
|
rs876657799
|
|
|
NM_004415.4(DSP):c.882G>A (p.Leu294=)
|
rs2113669406
|
|
|
NM_004415.4(DSP):c.888C>A (p.Tyr296Ter)
|
rs149701627
|
|
|
NM_004415.4(DSP):c.888C>G (p.Tyr296Ter)
|
rs149701627
|
|
|
NM_004415.4(DSP):c.889G>C (p.Asp297His)
|
rs201930322
|
|
|
NM_004415.4(DSP):c.889G>T (p.Asp297Tyr)
|
rs201930322
|
|
|
NM_004415.4(DSP):c.891C>T (p.Asp297=)
|
rs2113669443
|
|
|
NM_004415.4(DSP):c.892T>G (p.Trp298Gly)
|
|
|
|
NM_004415.4(DSP):c.893G>A (p.Trp298Ter)
|
|
|
|
NM_004415.4(DSP):c.894G>A (p.Trp298Ter)
|
rs2113669445
|
|
|
NM_004415.4(DSP):c.897C>A (p.Ser299Arg)
|
|
|
|
NM_004415.4(DSP):c.897C>G (p.Ser299Arg)
|
rs121912992
|
|
|
NM_004415.4(DSP):c.8G>A (p.Cys3Tyr)
|
rs760993985
|
|
|
NM_004415.4(DSP):c.905A>T (p.Asn302Ile)
|
|
|
|
NM_004415.4(DSP):c.910A>C (p.Asn304His)
|
rs2113669485
|
|
|
NM_004415.4(DSP):c.913A>G (p.Ile305Val)
|
rs17604693
|
|
|
NM_004415.4(DSP):c.919C>T (p.Gln307Ter)
|
rs1238227166
|
|
|
NM_004415.4(DSP):c.922A>C (p.Lys308Gln)
|
rs1060500617
|
|
|
NM_004415.4(DSP):c.924dup (p.Gln309fs)
|
rs2113669536
|
|
|
NM_004415.4(DSP):c.925C>T (p.Gln309Ter)
|
rs1581799453
|
|
|
NM_004415.4(DSP):c.928dup (p.Glu310fs)
|
rs794728137
|
|
|
NM_004415.4(DSP):c.931G>C (p.Ala311Pro)
|
|
|
|
NM_004415.4(DSP):c.931del (p.Ala311fs)
|
|
|
|
NM_004415.4(DSP):c.935_937del (p.Phe312del)
|
rs794728138
|
|
|
NM_004415.4(DSP):c.939+11C>G
|
|
|
|
NM_004415.4(DSP):c.939+11C>T
|
|
|
|
NM_004415.4(DSP):c.939+13dup
|
rs730880360
|
|
|
NM_004415.4(DSP):c.939+15C>T
|
|
|
|
NM_004415.4(DSP):c.939+18G>A
|
|
|
|
NM_004415.4(DSP):c.939+1G>T
|
rs727504443
|
|
|
NM_004415.4(DSP):c.939+1del
|
rs1758835134
|
|
|
NM_004415.4(DSP):c.939+2T>C
|
rs2113669594
|
|
|
NM_004415.4(DSP):c.939+2_939+3insCC
|
rs2113669596
|
|
|
NM_004415.4(DSP):c.939+3_939+6dup
|
|
|
|
NM_004415.4(DSP):c.939+4A>C
|
|
|
|
NM_004415.4(DSP):c.939+8C>G
|
|
|
|
NM_004415.4(DSP):c.939+9A>G
|
|
|
|
NM_004415.4(DSP):c.93C>T (p.Thr31=)
|
|
|
|
NM_004415.4(DSP):c.940-11T>C
|
|
|
|
NM_004415.4(DSP):c.940-12C>T
|
rs2113670873
|
|
|
NM_004415.4(DSP):c.940-2del
|
rs2113670901
|
|
|
NM_004415.4(DSP):c.940-7T>G
|
rs1368622056
|
|
|
NM_004415.4(DSP):c.942dup (p.Arg315fs)
|
rs1758864039
|
|
|
NM_004415.4(DSP):c.944G>C (p.Arg315Pro)
|
|
|
|
NM_004415.4(DSP):c.944G>T (p.Arg315Leu)
|
rs558825586
|
|
|
NM_004415.4(DSP):c.944_945delinsAA (p.Arg315Gln)
|
|
|
|
NM_004415.4(DSP):c.945C>T (p.Arg315=)
|
|
|
|
NM_004415.4(DSP):c.94A>G (p.Ser32Gly)
|
rs2113628871
|
|
|
NM_004415.4(DSP):c.950G>C (p.Ser317Thr)
|
|
|
|
NM_004415.4(DSP):c.954A>C (p.Gln318His)
|
rs1023875624
|
|
|
NM_004415.4(DSP):c.955C>G (p.Leu319Val)
|
rs777852039
|
|
|
NM_004415.4(DSP):c.955C>T (p.Leu319=)
|
rs777852039
|
|
|
NM_004415.4(DSP):c.956T>C (p.Leu319Pro)
|
|
|
|
NM_004415.4(DSP):c.962T>A (p.Val321Asp)
|
|
|
|
NM_004415.4(DSP):c.967G>C (p.Glu323Gln)
|
rs1057522287
|
|
|
NM_004415.4(DSP):c.968A>G (p.Glu323Gly)
|
rs1064795408
|
|
|
NM_004415.4(DSP):c.969_974del (p.322KE[1])
|
|
|
|
NM_004415.4(DSP):c.96C>T (p.Ser32=)
|
rs1440994214
|
|
|
NM_004415.4(DSP):c.97G>A (p.Gly33Ser)
|
rs1581777550
|
|
|
NM_004415.4(DSP):c.986T>C (p.Leu329Pro)
|
|
|
|
NM_004415.4(DSP):c.991C>T (p.Gln331Ter)
|
rs121912991
|
|
|
NM_004415.4(DSP):c.992A>C (p.Gln331Pro)
|
rs746517026
|
|
|
NM_004415.4(DSP):c.992A>G (p.Gln331Arg)
|
rs746517026
|
|
|
NM_004415.4(DSP):c.997del (p.Ser333fs)
|
|
|
|
NM_004415.4(DSP):c.998G>C (p.Ser333Thr)
|
rs749695729
|
|
|
NM_004415.4(DSP):c.99C>T (p.Gly33=)
|
rs755898551
|
|
|
NM_004572.3(PKP2):c.(?_1689)_(1806_?)del
|
|
|
|
NM_004572.3(PKP2):c.-70C>T
|
rs886049327
|
|
|
NM_004572.3(PKP2):c.-79G>T
|
rs886049328
|
|
|
NM_004572.3(PKP2):c.-97_-93dup
|
rs886049329
|
|
|
NM_004572.3(PKP2):c.1677dup (p.Gly560Trpfs)
|
rs1555144459
|
|
|
NM_004572.3(PKP2):c.2146-?_2489+?del
|
|
|
|
NM_004628.5(XPC):c.*397_*400del
|
rs3731180
|
|
|
NM_004628.5(XPC):c.*611T>A
|
rs2470352
|
|
|
NM_004628.5(XPC):c.*684G>C
|
rs1126547
|
|
|
NM_005477.3(HCN4):c.2261A>G (p.His754Arg)
|
rs762856084
|
|
|
NM_006073.4(TRDN):c.1002T>C (p.Asp334=)
|
rs2114593337
|
|
|
NM_006073.4(TRDN):c.1006A>G (p.Lys336Glu)
|
|
|
|
NM_006073.4(TRDN):c.1034T>C (p.Ile345Thr)
|
rs1459890032
|
|
|
NM_006073.4(TRDN):c.1042G>C (p.Glu348Gln)
|
|
|
|
NM_006073.4(TRDN):c.1051+10_1051+11insTGTT
|
|
|
|
NM_006073.4(TRDN):c.1051+13_1051+16del
|
rs779871731
|
|
|
NM_006073.4(TRDN):c.1051+14T>G
|
rs2114593071
|
|
|
NM_006073.4(TRDN):c.1051+18T>C
|
|
|
|
NM_006073.4(TRDN):c.1051+1G>A
|
rs535908547
|
|
|
NM_006073.4(TRDN):c.1051+1G>T
|
rs535908547
|
|
|
NM_006073.4(TRDN):c.1051+20T>C
|
rs1436980557
|
|
|
NM_006073.4(TRDN):c.1051+3A>T
|
rs2114593121
|
|
|
NM_006073.4(TRDN):c.1051+6G>T
|
|
|
|
NM_006073.4(TRDN):c.1051+7C>T
|
|
|
|
NM_006073.4(TRDN):c.1051+8A>T
|
|
|
|
NM_006073.4(TRDN):c.1051+9C>T
|
|
|
|
NM_006073.4(TRDN):c.1052-10dup
|
|
|
|
NM_006073.4(TRDN):c.1052-15T>C
|
|
|
|
NM_006073.4(TRDN):c.1052-16T>A
|
rs2114461669
|
|
|
NM_006073.4(TRDN):c.1052-18T>A
|
|
|
|
NM_006073.4(TRDN):c.1052-18T>C
|
|
|
|
NM_006073.4(TRDN):c.1052-19_1052-18del
|
rs2114461686
|
|
|
NM_006073.4(TRDN):c.1052-9C>A
|
rs765883002
|
|
|
NM_006073.4(TRDN):c.1055C>A (p.Pro352Gln)
|
rs754708708
|
|
|
NM_006073.4(TRDN):c.1055C>T (p.Pro352Leu)
|
rs754708708
|
|
|
NM_006073.4(TRDN):c.1056G>A (p.Pro352=)
|
|
|
|
NM_006073.4(TRDN):c.1056G>T (p.Pro352=)
|
rs558713666
|
|
|
NM_006073.4(TRDN):c.1058G>A (p.Gly353Glu)
|
rs1230466120
|
|
|
NM_006073.4(TRDN):c.1087G>A (p.Val363Ile)
|
|
|
|
NM_006073.4(TRDN):c.1098_1099inv (p.Ala367Ser)
|
|
|
|
NM_006073.4(TRDN):c.1105+13del
|
|
|
|
NM_006073.4(TRDN):c.1105+1del
|
rs1772598763
|
|
|
NM_006073.4(TRDN):c.1105G>T (p.Ala369Ser)
|
rs369198088
|
|
|
NM_006073.4(TRDN):c.1106-19G>A
|
rs754623877
|
|
|
NM_006073.4(TRDN):c.1106-19G>T
|
rs754623877
|
|
|
NM_006073.4(TRDN):c.1106-20C>T
|
|
|
|
NM_006073.4(TRDN):c.1106-5T>C
|
|
|
|
NM_006073.4(TRDN):c.1131G>A (p.Lys377=)
|
rs1370845470
|
|
|
NM_006073.4(TRDN):c.1132G>A (p.Glu378Lys)
|
rs1330602239
|
|
|
NM_006073.4(TRDN):c.1133A>G (p.Glu378Gly)
|
rs2114443570
|
|
|
NM_006073.4(TRDN):c.1135+17dup
|
|
|
|
NM_006073.4(TRDN):c.1136-2A>G
|
|
|
|
NM_006073.4(TRDN):c.1136-2_1136-1delinsTA
|
|
|
|
NM_006073.4(TRDN):c.1144A>G (p.Lys382Glu)
|
rs1781747004
|
|
|
NM_006073.4(TRDN):c.1150A>G (p.Lys384Glu)
|
rs1159691201
|
|
|
NM_006073.4(TRDN):c.1166-1G>A
|
rs1298986609
|
|
|
NM_006073.4(TRDN):c.1175C>T (p.Pro392Leu)
|
rs1364039811
|
|
|
NM_006073.4(TRDN):c.1186+12C>T
|
|
|
|
NM_006073.4(TRDN):c.1186+13A>G
|
|
|
|
NM_006073.4(TRDN):c.1187-13T>C
|
|
|
|
NM_006073.4(TRDN):c.1187-15A>G
|
|
|
|
NM_006073.4(TRDN):c.1187-19C>G
|
|
|
|
NM_006073.4(TRDN):c.1187-2A>G
|
rs578024729
|
|
|
NM_006073.4(TRDN):c.1188A>C (p.Lys396Asn)
|
rs6901953
|
|
|
NM_006073.4(TRDN):c.119T>C (p.Ile40Thr)
|
|
|
|
NM_006073.4(TRDN):c.1208A>C (p.His403Pro)
|
|
|
|
NM_006073.4(TRDN):c.1209T>C (p.His403=)
|
|
|
|
NM_006073.4(TRDN):c.1218A>T (p.Pro406=)
|
|
|
|
NM_006073.4(TRDN):c.1219+7_1219+8del
|
rs2114402886
|
|
|
NM_006073.4(TRDN):c.1220-12T>C
|
|
|
|
NM_006073.4(TRDN):c.1220-17T>C
|
|
|
|
NM_006073.4(TRDN):c.1220-19del
|
|
|
|
NM_006073.4(TRDN):c.1220-19dup
|
rs750105897
|
|
|
NM_006073.4(TRDN):c.1220-20_1220-19del
|
|
|
|
NM_006073.4(TRDN):c.1223A>C (p.Lys408Thr)
|
rs2114402336
|
|
|
NM_006073.4(TRDN):c.1229C>A (p.Pro410Gln)
|
|
|
|
NM_006073.4(TRDN):c.1233G>A (p.Lys411=)
|
|
|
|
NM_006073.4(TRDN):c.1233_1234dup (p.Lys412fs)
|
rs778198100
|
|
|
NM_006073.4(TRDN):c.123G>A (p.Val41=)
|
rs546801443
|
|
|
NM_006073.4(TRDN):c.1246+10A>G
|
rs377411184
|
|
|
NM_006073.4(TRDN):c.1246+15T>C
|
|
|
|
NM_006073.4(TRDN):c.1247-19T>G
|
|
|
|
NM_006073.4(TRDN):c.1247-20T>C
|
|
|
|
NM_006073.4(TRDN):c.1247-8A>G
|
|
|
|
NM_006073.4(TRDN):c.1248T>C (p.Val416=)
|
|
|
|
NM_006073.4(TRDN):c.1257C>G (p.Asp419Glu)
|
rs17737379
|
|
|
NM_006073.4(TRDN):c.1259A>G (p.Lys420Arg)
|
|
|
|
NM_006073.4(TRDN):c.126G>T (p.Thr42=)
|
rs774324909
|
|
|
NM_006073.4(TRDN):c.1273+16T>G
|
|
|
|
NM_006073.4(TRDN):c.1273+5G>A
|
|
|
|
NM_006073.4(TRDN):c.1273+7T>G
|
rs1324451489
|
|
|
NM_006073.4(TRDN):c.1273+8G>T
|
rs1781473593
|
|
|
NM_006073.4(TRDN):c.1274-8A>G
|
|
|
|
NM_006073.4(TRDN):c.1276A>G (p.Thr426Ala)
|
rs1040336692
|
|
|
NM_006073.4(TRDN):c.1278T>C (p.Thr426=)
|
|
|
|
NM_006073.4(TRDN):c.1282C>G (p.Arg428Gly)
|
rs202219343
|
|
|
NM_006073.4(TRDN):c.1292_1293del (p.Glu431fs)
|
rs1582923790
|
|
|
NM_006073.4(TRDN):c.1300_1308del (p.Gly434_Val436del)
|
rs765757457
|
|
|
NM_006073.4(TRDN):c.1301G>C (p.Gly434Ala)
|
rs2114357967
|
|
|
NM_006073.4(TRDN):c.1304C>A (p.Ala435Glu)
|
rs370712881
|
|
|
NM_006073.4(TRDN):c.1304C>T (p.Ala435Val)
|
rs370712881
|
|
|
NM_006073.4(TRDN):c.1313T>A (p.Ile438Asn)
|
rs2873479
|
|
|
NM_006073.4(TRDN):c.1313T>G (p.Ile438Ser)
|
rs2873479
|
|
|
NM_006073.4(TRDN):c.1313_1314delinsGC (p.Ile438Ser)
|
rs1562280050
|
|
|
NM_006073.4(TRDN):c.1321+10G>T
|
|
|
|
NM_006073.4(TRDN):c.1321+11C>A
|
|
|
|
NM_006073.4(TRDN):c.1321+11C>G
|
rs920771213
|
|
|
NM_006073.4(TRDN):c.1321+17G>A
|
|
|
|
NM_006073.4(TRDN):c.1321+17G>T
|
|
|
|
NM_006073.4(TRDN):c.1321+1G>T
|
|
|
|
NM_006073.4(TRDN):c.1321+1del
|
rs754982716
|
|
|
NM_006073.4(TRDN):c.1321+9A>G
|
|
|
|
NM_006073.4(TRDN):c.1322-21_1322-20del
|
rs753927173
|
|
|
NM_006073.4(TRDN):c.1322-9_1322-6dup
|
|
|
|
NM_006073.4(TRDN):c.1328C>T (p.Pro443Leu)
|
rs2114299923
|
|
|
NM_006073.4(TRDN):c.1329T>C (p.Pro443=)
|
rs2114299916
|
|
|
NM_006073.4(TRDN):c.1340A>G (p.Glu447Gly)
|
rs1488176228
|
|
|
NM_006073.4(TRDN):c.1362G>A (p.Val454=)
|
|
|
|
NM_006073.4(TRDN):c.1365G>A (p.Glu455=)
|
rs1452206168
|
|
|
NM_006073.4(TRDN):c.1369+11A>G
|
|
|
|
NM_006073.4(TRDN):c.1369+15A>G
|
|
|
|
NM_006073.4(TRDN):c.1369+2del
|
|
|
|
NM_006073.4(TRDN):c.1369+3dup
|
rs537388823
|
|
|
NM_006073.4(TRDN):c.1370-11_1370-10delinsAC
|
rs1060502113
|
|
|
NM_006073.4(TRDN):c.1370-15T>A
|
|
|
|
NM_006073.4(TRDN):c.1370-19C>T
|
|
|
|
NM_006073.4(TRDN):c.1370-20_1370-8del
|
|
|
|
NM_006073.4(TRDN):c.1370-2A>G
|
|
|
|
NM_006073.4(TRDN):c.1370A>G (p.Glu457Gly)
|
rs1275202498
|
|
|
NM_006073.4(TRDN):c.1373T>C (p.Ile458Thr)
|
rs1216864060
|
|
|
NM_006073.4(TRDN):c.1375A>T (p.Arg459Ter)
|
rs1562267979
|
|
|
NM_006073.4(TRDN):c.138C>T (p.Ser46=)
|
|
|
|
NM_006073.4(TRDN):c.1395G>A (p.Lys465=)
|
|
|
|
NM_006073.4(TRDN):c.1405A>G (p.Ile469Val)
|
|
|
|
NM_006073.4(TRDN):c.1410G>A (p.Leu470=)
|
rs768291815
|
|
|
NM_006073.4(TRDN):c.1410G>T (p.Leu470=)
|
rs768291815
|
|
|
NM_006073.4(TRDN):c.1416T>C (p.Asp472=)
|
rs1464407707
|
|
|
NM_006073.4(TRDN):c.1416T>G (p.Asp472Glu)
|
rs1464407707
|
|
|
NM_006073.4(TRDN):c.1420+17A>G
|
|
|
|
NM_006073.4(TRDN):c.1420+17A>T
|
|
|
|
NM_006073.4(TRDN):c.1420+18A>C
|
|
|
|
NM_006073.4(TRDN):c.1420+18A>G
|
|
|
|
NM_006073.4(TRDN):c.1420+8_1420+9del
|
rs1254777827
|
|
|
NM_006073.4(TRDN):c.1421-14A>G
|
|
|
|
NM_006073.4(TRDN):c.1421-16C>T
|
|
|
|
NM_006073.4(TRDN):c.1421-19G>C
|
|
|
|
NM_006073.4(TRDN):c.1426A>G (p.Ile476Val)
|
|
|
|
NM_006073.4(TRDN):c.1427T>C (p.Ile476Thr)
|
rs1582882357
|
|
|
NM_006073.4(TRDN):c.1431A>G (p.Lys477=)
|
|
|
|
NM_006073.4(TRDN):c.1443G>C (p.Glu481Asp)
|
rs2114727152
|
|
|
NM_006073.4(TRDN):c.1454C>T (p.Ala485Val)
|
rs1001289198
|
|
|
NM_006073.4(TRDN):c.1458C>G (p.Ser486=)
|
rs1365899783
|
|
|
NM_006073.4(TRDN):c.145G>C (p.Ala49Pro)
|
rs1583264660
|
|
|
NM_006073.4(TRDN):c.1471+10T>A
|
rs1408593994
|
|
|
NM_006073.4(TRDN):c.1471+10T>C
|
|
|
|
NM_006073.4(TRDN):c.1471+14A>G
|
|
|
|
NM_006073.4(TRDN):c.1471+15T>C
|
|
|
|
NM_006073.4(TRDN):c.1471+1G>A
|
|
|
|
NM_006073.4(TRDN):c.1471+8_1471+10del
|
|
|
|
NM_006073.4(TRDN):c.1471G>C (p.Glu491Gln)
|
|
|
|
NM_006073.4(TRDN):c.1472-4C>T
|
|
|
|
NM_006073.4(TRDN):c.1472-5C>T
|
rs2114699560
|
|
|
NM_006073.4(TRDN):c.147C>A (p.Ala49=)
|
rs1554258804
|
|
|
NM_006073.4(TRDN):c.1488del (p.Asp497fs)
|
|
|
|
NM_006073.4(TRDN):c.1492G>T (p.Glu498Ter)
|
rs1779027425
|
|
|
NM_006073.4(TRDN):c.1499T>C (p.Met500Thr)
|
rs1233338907
|
|
|
NM_006073.4(TRDN):c.1503C>T (p.Ser501=)
|
|
|
|
NM_006073.4(TRDN):c.1510+14G>A
|
|
|
|
NM_006073.4(TRDN):c.1510+1G>C
|
|
|
|
NM_006073.4(TRDN):c.1510+5G>A
|
rs1779025821
|
|
|
NM_006073.4(TRDN):c.1511-11C>T
|
|
|
|
NM_006073.4(TRDN):c.1511-13del
|
rs768721605
|
|
|
NM_006073.4(TRDN):c.1511-13dup
|
|
|
|
NM_006073.4(TRDN):c.1511-20A>G
|
|
|
|
NM_006073.4(TRDN):c.1511-20A>T
|
rs773044428
|
|
|
NM_006073.4(TRDN):c.1511-9T>C
|
|
|
|
NM_006073.4(TRDN):c.1512C>T (p.Gly504=)
|
|
|
|
NM_006073.4(TRDN):c.1526C>G (p.Pro509Arg)
|
rs1060502115
|
|
|
NM_006073.4(TRDN):c.1534C>T (p.Pro512Ser)
|
|
|
|
NM_006073.4(TRDN):c.1537+16G>A
|
|
|
|
NM_006073.4(TRDN):c.1537+17C>A
|
|
|
|
NM_006073.4(TRDN):c.1537+18T>A
|
|
|
|
NM_006073.4(TRDN):c.1537+18_1537+19insTAAA
|
|
|
|
NM_006073.4(TRDN):c.1537C>T (p.Gln513Ter)
|
rs757355311
|
|
|
NM_006073.4(TRDN):c.1538-12C>G
|
|
|
|
NM_006073.4(TRDN):c.1538-17T>C
|
|
|
|
NM_006073.4(TRDN):c.1538-19T>C
|
rs142237914
|
|
|
NM_006073.4(TRDN):c.1538-7T>G
|
rs1777452285
|
|
|
NM_006073.4(TRDN):c.1544A>G (p.Gln515Arg)
|
|
|
|
NM_006073.4(TRDN):c.1545A>C (p.Gln515His)
|
rs1232728917
|
|
|
NM_006073.4(TRDN):c.1549A>G (p.Lys517Glu)
|
rs2114626106
|
|
|
NM_006073.4(TRDN):c.1560G>A (p.Glu520=)
|
|
|
|
NM_006073.4(TRDN):c.1567+10T>A
|
rs2114626071
|
|
|
NM_006073.4(TRDN):c.1567+16T>G
|
|
|
|
NM_006073.4(TRDN):c.1567+19_1567+20del
|
|
|
|
NM_006073.4(TRDN):c.1568-14T>C
|
|
|
|
NM_006073.4(TRDN):c.1568-15T>C
|
|
|
|
NM_006073.4(TRDN):c.1568-16C>T
|
|
|
|
NM_006073.4(TRDN):c.1568-17C>A
|
|
|
|
NM_006073.4(TRDN):c.1568-18G>A
|
|
|
|
NM_006073.4(TRDN):c.1568-20del
|
|
|
|
NM_006073.4(TRDN):c.1568-5C>T
|
|
|
|
NM_006073.4(TRDN):c.156G>C (p.Leu52=)
|
|
|
|
NM_006073.4(TRDN):c.156G>T (p.Leu52=)
|
|
|
|
NM_006073.4(TRDN):c.1576A>G (p.Ile526Val)
|
rs375091695
|
|
|
NM_006073.4(TRDN):c.1577T>G (p.Ile526Ser)
|
rs771612991
|
|
|
NM_006073.4(TRDN):c.1579A>G (p.Lys527Glu)
|
rs1192853066
|
|
|
NM_006073.4(TRDN):c.157G>A (p.Val53Ile)
|
|
|
|
NM_006073.4(TRDN):c.1580A>G (p.Lys527Arg)
|
|
|
|
NM_006073.4(TRDN):c.1584A>G (p.Lys528=)
|
|
|
|
NM_006073.4(TRDN):c.1597+10G>A
|
rs150165710
|
|
|
NM_006073.4(TRDN):c.1597+11C>T
|
|
|
|
NM_006073.4(TRDN):c.1597+15A>G
|
|
|
|
NM_006073.4(TRDN):c.1598-12T>C
|
|
|
|
NM_006073.4(TRDN):c.1598-15ATTT[2]
|
|
|
|
NM_006073.4(TRDN):c.1598-16T>A
|
|
|
|
NM_006073.4(TRDN):c.1598-16T>C
|
|
|
|
NM_006073.4(TRDN):c.1598-18_1598-14del
|
|
|
|
NM_006073.4(TRDN):c.1598-20A>G
|
|
|
|
NM_006073.4(TRDN):c.1598-20_1598-19del
|
rs1463323606
|
|
|
NM_006073.4(TRDN):c.1598-23_1598-19del
|
rs1282710403
|
|
|
NM_006073.4(TRDN):c.1598-4_1598-3insTTTAT
|
|
|
|
NM_006073.4(TRDN):c.1598-6dup
|
rs147062785
|
|
|
NM_006073.4(TRDN):c.159C>A (p.Val53=)
|
|
|
|
NM_006073.4(TRDN):c.1600A>G (p.Ile534Val)
|
rs1048725851
|
|
|
NM_006073.4(TRDN):c.1600_1602delinsT (p.Ile534fs)
|
rs1777268262
|
|
|
NM_006073.4(TRDN):c.1608A>G (p.Glu536=)
|
rs2114616513
|
|
|
NM_006073.4(TRDN):c.161T>C (p.Ile54Thr)
|
rs1562396418
|
|
|
NM_006073.4(TRDN):c.1623C>T (p.His541=)
|
|
|
|
NM_006073.4(TRDN):c.1624+1G>A
|
|
|
|
NM_006073.4(TRDN):c.1624+1G>C
|
rs748011906
|
|
|
NM_006073.4(TRDN):c.1624+20T>C
|
|
|
|
NM_006073.4(TRDN):c.1624+6T>A
|
|
|
|
NM_006073.4(TRDN):c.1624+9T>A
|
|
|
|
NM_006073.4(TRDN):c.1625-11A>C
|
|
|
|
NM_006073.4(TRDN):c.1625-3C>A
|
|
|
|
NM_006073.4(TRDN):c.1626A>G (p.Lys542=)
|
|
|
|
NM_006073.4(TRDN):c.1629A>G (p.Gln543=)
|
rs2114615817
|
|
|
NM_006073.4(TRDN):c.1630G>A (p.Asp544Asn)
|
rs1777254669
|
|
|
NM_006073.4(TRDN):c.1632C>T (p.Asp544=)
|
|
|
|
NM_006073.4(TRDN):c.1648A>G (p.Lys550Glu)
|
rs1036032456
|
|
|
NM_006073.4(TRDN):c.164C>T (p.Ala55Val)
|
rs1333255264
|
|
|
NM_006073.4(TRDN):c.1650G>A (p.Lys550=)
|
|
|
|
NM_006073.4(TRDN):c.1661A>C (p.His554Pro)
|
rs1777253805
|
|
|
NM_006073.4(TRDN):c.1661A>G (p.His554Arg)
|
|
|
|
NM_006073.4(TRDN):c.1667A>G (p.Lys556Arg)
|
rs1554219406
|
|
|
NM_006073.4(TRDN):c.1672+13T>C
|
|
|
|
NM_006073.4(TRDN):c.1672+3A>G
|
|
|
|
NM_006073.4(TRDN):c.1672+6T>C
|
|
|
|
NM_006073.4(TRDN):c.1673-10C>T
|
|
|
|
NM_006073.4(TRDN):c.167T>C (p.Leu56Pro)
|
rs1060502116
|
|
|
NM_006073.4(TRDN):c.1684C>A (p.Leu562Ile)
|
rs2114612744
|
|
|
NM_006073.4(TRDN):c.168G>A (p.Leu56=)
|
rs1290905998
|
|
|
NM_006073.4(TRDN):c.1691A>C (p.Gln564Pro)
|
rs768555461
|
|
|
NM_006073.4(TRDN):c.1692G>A (p.Gln564=)
|
|
|
|
NM_006073.4(TRDN):c.1692G>C (p.Gln564His)
|
rs747107207
|
|
|
NM_006073.4(TRDN):c.1693G>A (p.Val565Ile)
|
rs565178454
|
|
|
NM_006073.4(TRDN):c.1700C>A (p.Ala567Asp)
|
rs545470302
|
|
|
NM_006073.4(TRDN):c.1701T>G (p.Ala567=)
|
rs1208419306
|
|
|
NM_006073.4(TRDN):c.1717dup (p.Thr573fs)
|
|
|
|
NM_006073.4(TRDN):c.1720+9G>A
|
|
|
|
NM_006073.4(TRDN):c.1721-10T>C
|
rs2114610669
|
|
|
NM_006073.4(TRDN):c.1721-11A>G
|
rs1356432525
|
|
|
NM_006073.4(TRDN):c.1721-16C>T
|
|
|
|
NM_006073.4(TRDN):c.1721-4A>T
|
rs60743141
|
|
|
NM_006073.4(TRDN):c.1721-6C>T
|
|
|
|
NM_006073.4(TRDN):c.1732C>T (p.Pro578Ser)
|
|
|
|
NM_006073.4(TRDN):c.1738+10G>A
|
|
|
|
NM_006073.4(TRDN):c.1738+12A>G
|
|
|
|
NM_006073.4(TRDN):c.1738+20A>G
|
|
|
|
NM_006073.4(TRDN):c.1739-15G>T
|
|
|
|
NM_006073.4(TRDN):c.1739-16T>G
|
|
|
|
NM_006073.4(TRDN):c.1739-17T>C
|
|
|
|
NM_006073.4(TRDN):c.1753C>T (p.Arg585Ter)
|
rs754229275
|
|
|
NM_006073.4(TRDN):c.1762G>A (p.Glu588Lys)
|
|
|
|
NM_006073.4(TRDN):c.1768C>T (p.Pro590Ser)
|
rs2114606785
|
|
|
NM_006073.4(TRDN):c.1770A>C (p.Pro590=)
|
rs2114606782
|
|
|
NM_006073.4(TRDN):c.1783+8A>G
|
|
|
|
NM_006073.4(TRDN):c.1784-10dup
|
rs1776904446
|
|
|
NM_006073.4(TRDN):c.1784-16del
|
rs1181050406
|
|
|
NM_006073.4(TRDN):c.1784-17del
|
rs750605412
|
|
|
NM_006073.4(TRDN):c.1784-17dup
|
|
|
|
NM_006073.4(TRDN):c.1784-18T>C
|
|
|
|
NM_006073.4(TRDN):c.1784-7T>C
|
|
|
|
NM_006073.4(TRDN):c.1784-7T>G
|
|
|
|
NM_006073.4(TRDN):c.1784-8C>G
|
rs759126653
|
|
|
NM_006073.4(TRDN):c.1784-9C>A
|
|
|
|
NM_006073.4(TRDN):c.1794del (p.Lys598fs)
|
rs1412913007
|
|
|
NM_006073.4(TRDN):c.1804+10C>T
|
|
|
|
NM_006073.4(TRDN):c.1804+2T>C
|
rs2114598453
|
|
|
NM_006073.4(TRDN):c.1804+6T>C
|
|
|
|
NM_006073.4(TRDN):c.1804+8T>C
|
|
|
|
NM_006073.4(TRDN):c.1804A>T (p.Lys602Ter)
|
rs2114598456
|
|
|
NM_006073.4(TRDN):c.1805-19_1805-18insC
|
|
|
|
NM_006073.4(TRDN):c.1805-21dup
|
rs11373802
|
|
|
NM_006073.4(TRDN):c.1805-4A>T
|
|
|
|
NM_006073.4(TRDN):c.1805-6_1805-4del
|
rs2114588768
|
|
|
NM_006073.4(TRDN):c.1805-6_1805-4delinsT
|
rs1776731846
|
|
|
NM_006073.4(TRDN):c.1805-6dup
|
|
|
|
NM_006073.4(TRDN):c.1805-7T>C
|
|
|
|
NM_006073.4(TRDN):c.1806del (p.Gly603fs)
|
rs1381728472
|
|
|
NM_006073.4(TRDN):c.1831+17T>A
|
rs953116640
|
|
|
NM_006073.4(TRDN):c.1831+9T>C
|
|
|
|
NM_006073.4(TRDN):c.1831+9T>G
|
|
|
|
NM_006073.4(TRDN):c.1832-11C>A
|
|
|
|
NM_006073.4(TRDN):c.1832-4C>T
|
|
|
|
NM_006073.4(TRDN):c.1832-5C>G
|
|
|
|
NM_006073.4(TRDN):c.1832-5C>T
|
|
|
|
NM_006073.4(TRDN):c.1845T>C (p.Thr615=)
|
|
|
|
NM_006073.4(TRDN):c.1857A>G (p.Glu619=)
|
|
|
|
NM_006073.4(TRDN):c.1861G>T (p.Glu621Ter)
|
|
|
|
NM_006073.4(TRDN):c.1862A>G (p.Glu621Gly)
|
rs1211286909
|
|
|
NM_006073.4(TRDN):c.1870+19G>C
|
|
|
|
NM_006073.4(TRDN):c.1870+19G>T
|
|
|
|
NM_006073.4(TRDN):c.1871-20T>C
|
|
|
|
NM_006073.4(TRDN):c.1871-2A>G
|
rs1483354092
|
|
|
NM_006073.4(TRDN):c.1871-6A>C
|
|
|
|
NM_006073.4(TRDN):c.1871-9T>A
|
rs1489256531
|
|
|
NM_006073.4(TRDN):c.1874A>C (p.Lys625Thr)
|
rs1776539318
|
|
|
NM_006073.4(TRDN):c.1874A>G (p.Lys625Arg)
|
rs1776539318
|
|
|
NM_006073.4(TRDN):c.1875dup (p.Ala626fs)
|
rs780443277
|
|
|
NM_006073.4(TRDN):c.1881C>G (p.Asp627Glu)
|
rs1776538992
|
|
|
NM_006073.4(TRDN):c.1881C>T (p.Asp627=)
|
rs1776538992
|
|
|
NM_006073.4(TRDN):c.1887G>A (p.Lys629=)
|
|
|
|
NM_006073.4(TRDN):c.1897G>A (p.Glu633Lys)
|
rs1776538236
|
|
|
NM_006073.4(TRDN):c.1900_1903del (p.Glu634fs)
|
rs750469686
|
|
|
NM_006073.4(TRDN):c.1906+10del
|
rs1371429325
|
|
|
NM_006073.4(TRDN):c.1906+17A>G
|
|
|
|
NM_006073.4(TRDN):c.1906+6T>C
|
rs1562232511
|
|
|
NM_006073.4(TRDN):c.1906+6T>G
|
rs1562232511
|
|
|
NM_006073.4(TRDN):c.1906+8T>C
|
|
|
|
NM_006073.4(TRDN):c.1907-16T>C
|
|
|
|
NM_006073.4(TRDN):c.1907-29_1907-15del
|
|
|
|
NM_006073.4(TRDN):c.1907-3C>T
|
|
|
|
NM_006073.4(TRDN):c.1907-6T>G
|
|
|
|
NM_006073.4(TRDN):c.1907-7T>C
|
|
|
|
NM_006073.4(TRDN):c.1913C>G (p.Thr638Arg)
|
rs1168548735
|
|
|
NM_006073.4(TRDN):c.1916_1918del (p.Arg639del)
|
|
|
|
NM_006073.4(TRDN):c.1921_1923del (p.Glu641del)
|
|
|
|
NM_006073.4(TRDN):c.1923_1924del (p.Leu643fs)
|
rs781420323
|
|
|
NM_006073.4(TRDN):c.1938C>A (p.His646Gln)
|
rs1582782548
|
|
|
NM_006073.4(TRDN):c.1938C>T (p.His646=)
|
|
|
|
NM_006073.4(TRDN):c.1951+13T>G
|
rs2114576557
|
|
|
NM_006073.4(TRDN):c.1951+9G>A
|
|
|
|
NM_006073.4(TRDN):c.1952-15del
|
rs2114570805
|
|
|
NM_006073.4(TRDN):c.1952-1G>A
|
rs2114570771
|
|
|
NM_006073.4(TRDN):c.1966A>G (p.Arg656Gly)
|
rs1776405797
|
|
|
NM_006073.4(TRDN):c.196G>A (p.Val66Ile)
|
rs372169818
|
|
|
NM_006073.4(TRDN):c.1975+14G>C
|
|
|
|
NM_006073.4(TRDN):c.1975+4del
|
rs763953757
|
|
|
NM_006073.4(TRDN):c.1975+7A>G
|
|
|
|
NM_006073.4(TRDN):c.1975+8C>A
|
rs754046696
|
|
|
NM_006073.4(TRDN):c.1975+9G>A
|
rs111276785
|
|
|
NM_006073.4(TRDN):c.1976-11C>T
|
|
|
|
NM_006073.4(TRDN):c.1986A>T (p.Glu662Asp)
|
|
|
|
NM_006073.4(TRDN):c.1989T>C (p.Asp663=)
|
|
|
|
NM_006073.4(TRDN):c.1996G>A (p.Ala666Thr)
|
rs748450167
|
|
|
NM_006073.4(TRDN):c.1996G>C (p.Ala666Pro)
|
rs748450167
|
|
|
NM_006073.4(TRDN):c.1997C>A (p.Ala666Asp)
|
rs878854816
|
|
|
NM_006073.4(TRDN):c.19_22+8del
|
|
|
|
NM_006073.4(TRDN):c.2011A>C (p.Lys671Gln)
|
rs2114505384
|
|
|
NM_006073.4(TRDN):c.2014+15T>C
|
rs2114505350
|
|
|
NM_006073.4(TRDN):c.2014+17T>C
|
rs2114505346
|
|
|
NM_006073.4(TRDN):c.2014+20A>G
|
rs2114505323
|
|
|
NM_006073.4(TRDN):c.2014+6T>G
|
rs2114505362
|
|
|
NM_006073.4(TRDN):c.2014+9G>T
|
|
|
|
NM_006073.4(TRDN):c.2014G>A (p.Glu672Lys)
|
rs2114505372
|
|
|
NM_006073.4(TRDN):c.2015-6C>A
|
rs1244486423
|
|
|
NM_006073.4(TRDN):c.2015-7C>T
|
|
|
|
NM_006073.4(TRDN):c.2030T>G (p.Val677Gly)
|
rs1775146927
|
|
|
NM_006073.4(TRDN):c.2037C>T (p.Pro679=)
|
|
|
|
NM_006073.4(TRDN):c.2050+18T>C
|
|
|
|
NM_006073.4(TRDN):c.2050+1G>A
|
rs1295530677
|
|
|
NM_006073.4(TRDN):c.2050+2T>C
|
rs758127975
|
|
|
NM_006073.4(TRDN):c.2051-12T>C
|
|
|
|
NM_006073.4(TRDN):c.2051-13C>A
|
rs763319003
|
|
|
NM_006073.4(TRDN):c.2051-13C>T
|
|
|
|
NM_006073.4(TRDN):c.2051-19_2051-18inv
|
|
|
|
NM_006073.4(TRDN):c.2051-5C>T
|
|
|
|
NM_006073.4(TRDN):c.2072G>C (p.Cys691Ser)
|
rs2114492427
|
|
|
NM_006073.4(TRDN):c.2090A>G (p.Tyr697Cys)
|
|
|
|
NM_006073.4(TRDN):c.2092A>G (p.Asn698Asp)
|
rs777779916
|
|
|
NM_006073.4(TRDN):c.2096del (p.Gly699fs)
|
rs772899515
|
|
|
NM_006073.4(TRDN):c.2108A>G (p.Gln703Arg)
|
rs1390830578
|
|
|
NM_006073.4(TRDN):c.2109G>T (p.Gln703His)
|
|
|
|
NM_006073.4(TRDN):c.211G>A (p.Val71Met)
|
|
|
|
NM_006073.4(TRDN):c.2121T>A (p.Thr707=)
|
|
|
|
NM_006073.4(TRDN):c.2123C>T (p.Pro708Leu)
|
|
|
|
NM_006073.4(TRDN):c.213G>A (p.Val71=)
|
|
|
|
NM_006073.4(TRDN):c.2149_2150del (p.Gly717fs)
|
|
|
|
NM_006073.4(TRDN):c.214G>A (p.Asp72Asn)
|
rs919863113
|
|
|
NM_006073.4(TRDN):c.2160T>C (p.Asn720=)
|
|
|
|
NM_006073.4(TRDN):c.2165C>T (p.Pro722Leu)
|
rs2114492200
|
|
|
NM_006073.4(TRDN):c.2167G>A (p.Gly723Arg)
|
rs2114492194
|
|
|
NM_006073.4(TRDN):c.2169A>G (p.Gly723=)
|
|
|
|
NM_006073.4(TRDN):c.2180A>G (p.Gln727Arg)
|
|
|
|
NM_006073.4(TRDN):c.2185C>G (p.Gln729Glu)
|
|
|
|
NM_006073.4(TRDN):c.22+19G>C
|
|
|
|
NM_006073.4(TRDN):c.22+1G>T
|
rs1290195833
|
|
|
NM_006073.4(TRDN):c.226T>C (p.Phe76Leu)
|
rs1782541809
|
|
|
NM_006073.4(TRDN):c.231A>G (p.Ser77=)
|
rs2114537218
|
|
|
NM_006073.4(TRDN):c.232+11T>C
|
|
|
|
NM_006073.4(TRDN):c.232+2T>A
|
rs1554258777
|
|
|
NM_006073.4(TRDN):c.232+2T>C
|
|
|
|
NM_006073.4(TRDN):c.232+6T>C
|
rs747825904
|
|
|
NM_006073.4(TRDN):c.233-11A>G
|
|
|
|
NM_006073.4(TRDN):c.233-14_233-13del
|
rs66509682
|
|
|
NM_006073.4(TRDN):c.237C>T (p.Ser79=)
|
rs2114437291
|
|
|
NM_006073.4(TRDN):c.245C>T (p.Ala82Val)
|
|
|
|
NM_006073.4(TRDN):c.24A>G (p.Gly8=)
|
|
|
|
NM_006073.4(TRDN):c.252T>G (p.Ile84Met)
|
|
|
|
NM_006073.4(TRDN):c.271C>T (p.Leu91=)
|
|
|
|
NM_006073.4(TRDN):c.274G>T (p.Val92Leu)
|
rs34808221
|
|
|
NM_006073.4(TRDN):c.277C>A (p.Arg93Ser)
|
|
|
|
NM_006073.4(TRDN):c.296C>G (p.Thr99Ser)
|
|
|
|
NM_006073.4(TRDN):c.29C>A (p.Ala10Glu)
|
|
|
|
NM_006073.4(TRDN):c.2T>C (p.Met1Thr)
|
|
|
|
NM_006073.4(TRDN):c.306G>T (p.Trp102Cys)
|
|
|
|
NM_006073.4(TRDN):c.307A>G (p.Ile103Val)
|
rs535845814
|
|
|
NM_006073.4(TRDN):c.312T>C (p.Tyr104=)
|
|
|
|
NM_006073.4(TRDN):c.334del (p.Asp112fs)
|
|
|
|
NM_006073.4(TRDN):c.337ATC[1] (p.Ile114del)
|
rs1781228259
|
|
|
NM_006073.4(TRDN):c.346T>A (p.Ser116Thr)
|
rs768047321
|
|
|
NM_006073.4(TRDN):c.346T>C (p.Ser116Pro)
|
rs768047321
|
|
|
NM_006073.4(TRDN):c.348T>C (p.Ser116=)
|
rs746361154
|
|
|
NM_006073.4(TRDN):c.355G>A (p.Glu119Lys)
|
|
|
|
NM_006073.4(TRDN):c.356A>G (p.Glu119Gly)
|
rs2114436566
|
|
|
NM_006073.4(TRDN):c.362ATG[2] (p.Asp123del)
|
rs746889615
|
|
|
NM_006073.4(TRDN):c.384T>C (p.Thr128=)
|
rs2114436256
|
|
|
NM_006073.4(TRDN):c.391+13T>C
|
|
|
|
NM_006073.4(TRDN):c.391+19T>A
|
|
|
|
NM_006073.4(TRDN):c.391+1G>A
|
rs2114436209
|
|
|
NM_006073.4(TRDN):c.391G>C (p.Gly131Arg)
|
rs1245170587
|
|
|
NM_006073.4(TRDN):c.392-6G>C
|
rs1781166505
|
|
|
NM_006073.4(TRDN):c.392-7G>T
|
rs1781166753
|
|
|
NM_006073.4(TRDN):c.402T>C (p.Asp134=)
|
rs1583222819
|
|
|
NM_006073.4(TRDN):c.410C>T (p.Pro137Leu)
|
rs1242484153
|
|
|
NM_006073.4(TRDN):c.411C>T (p.Pro137=)
|
|
|
|
NM_006073.4(TRDN):c.414G>A (p.Leu138=)
|
|
|
|
NM_006073.4(TRDN):c.416G>A (p.Arg139Lys)
|
rs1562379256
|
|
|
NM_006073.4(TRDN):c.417A>G (p.Arg139=)
|
rs1781163116
|
|
|
NM_006073.4(TRDN):c.41C>T (p.Thr14Ile)
|
rs2114538213
|
|
|
NM_006073.4(TRDN):c.423del (p.Glu142fs)
|
rs757805966
|
|
|
NM_006073.4(TRDN):c.424+13C>T
|
|
|
|
NM_006073.4(TRDN):c.424+14A>G
|
|
|
|
NM_006073.4(TRDN):c.424+8G>A
|
rs906772880
|
|
|
NM_006073.4(TRDN):c.424G>T (p.Glu142Ter)
|
|
|
|
NM_006073.4(TRDN):c.425-11T>C
|
rs2114339291
|
|
|
NM_006073.4(TRDN):c.425-11T>G
|
|
|
|
NM_006073.4(TRDN):c.425-11dup
|
rs950851610
|
|
|
NM_006073.4(TRDN):c.425-12A>G
|
|
|
|
NM_006073.4(TRDN):c.425-14C>A
|
|
|
|
NM_006073.4(TRDN):c.425-7T>C
|
|
|
|
NM_006073.4(TRDN):c.427A>C (p.Ile143Leu)
|
|
|
|
NM_006073.4(TRDN):c.432C>G (p.His144Gln)
|
|
|
|
NM_006073.4(TRDN):c.432C>T (p.His144=)
|
|
|
|
NM_006073.4(TRDN):c.436G>T (p.Asp146Tyr)
|
rs1780197036
|
|
|
NM_006073.4(TRDN):c.438_442del (p.Asp146_Lys147insTer)
|
rs752256846
|
|
|
NM_006073.4(TRDN):c.439_440del (p.Lys147fs)
|
rs2114339116
|
|
|
NM_006073.4(TRDN):c.440A>G (p.Lys147Arg)
|
rs2114339102
|
|
|
NM_006073.4(TRDN):c.445G>A (p.Glu149Lys)
|
rs902398250
|
|
|
NM_006073.4(TRDN):c.44_49del (p.Thr15_Val16del)
|
rs1271763031
|
|
|
NM_006073.4(TRDN):c.451C>T (p.Gln151Ter)
|
|
|
|
NM_006073.4(TRDN):c.483del (p.Val162fs)
|
|
|
|
NM_006073.4(TRDN):c.484+10T>C
|
|
|
|
NM_006073.4(TRDN):c.484+6C>T
|
rs115773202
|
|
|
NM_006073.4(TRDN):c.485-19T>C
|
|
|
|
NM_006073.4(TRDN):c.485-20A>G
|
|
|
|
NM_006073.4(TRDN):c.485-8C>T
|
rs767131579
|
|
|
NM_006073.4(TRDN):c.488C>T (p.Thr163Ile)
|
|
|
|
NM_006073.4(TRDN):c.497AAAAAG[1] (p.166EK[1])
|
rs148596612
|
|
|
NM_006073.4(TRDN):c.502G>T (p.Glu168Ter)
|
rs545032318
|
|
|
NM_006073.4(TRDN):c.507dup (p.Gly170fs)
|
|
|
|
NM_006073.4(TRDN):c.50T>C (p.Ile17Thr)
|
rs1583264951
|
|
|
NM_006073.4(TRDN):c.515_520del (p.Glu172_Lys173del)
|
|
|
|
NM_006073.4(TRDN):c.525A>G (p.Arg175=)
|
|
|
|
NM_006073.4(TRDN):c.526GAAAAA[1] (p.176EK[1])
|
rs1319934569
|
|
|
NM_006073.4(TRDN):c.531del (p.Glu178fs)
|
rs1432170970
|
|
|
NM_006073.4(TRDN):c.532_533del (p.Glu178fs)
|
|
|
|
NM_006073.4(TRDN):c.53_56del (p.Asp18fs)
|
rs768049331
|
|
|
NM_006073.4(TRDN):c.542A>C (p.Glu181Ala)
|
|
|
|
NM_006073.4(TRDN):c.542A>T (p.Glu181Val)
|
|
|
|
NM_006073.4(TRDN):c.550+12C>T
|
rs2114871069
|
|
|
NM_006073.4(TRDN):c.550+1_550+2insA
|
|
|
|
NM_006073.4(TRDN):c.550G>A (p.Ala184Thr)
|
rs576028226
|
|
|
NM_006073.4(TRDN):c.551-19G>C
|
|
|
|
NM_006073.4(TRDN):c.551-20T>C
|
rs1554251627
|
|
|
NM_006073.4(TRDN):c.551-7G>A
|
|
|
|
NM_006073.4(TRDN):c.551-7G>C
|
|
|
|
NM_006073.4(TRDN):c.568dup (p.Ile190fs)
|
rs1085307100
|
|
|
NM_006073.4(TRDN):c.569T>A (p.Ile190Asn)
|
rs1205195262
|
|
|
NM_006073.4(TRDN):c.573dup (p.Lys192fs)
|
rs1554251609
|
|
|
NM_006073.4(TRDN):c.579A>G (p.Lys193=)
|
|
|
|
NM_006073.4(TRDN):c.585A>G (p.Lys195=)
|
|
|
|
NM_006073.4(TRDN):c.587C>A (p.Pro196Gln)
|
|
|
|
NM_006073.4(TRDN):c.587C>T (p.Pro196Leu)
|
rs1277590915
|
|
|
NM_006073.4(TRDN):c.591A>G (p.Glu197=)
|
|
|
|
NM_006073.4(TRDN):c.604_610+47del
|
rs1554251571
|
|
|
NM_006073.4(TRDN):c.610+10C>A
|
rs1779222090
|
|
|
NM_006073.4(TRDN):c.610+11A>G
|
|
|
|
NM_006073.4(TRDN):c.611-1G>A
|
|
|
|
NM_006073.4(TRDN):c.611A>G (p.Glu204Gly)
|
|
|
|
NM_006073.4(TRDN):c.618del (p.Ala208fs)
|
rs1060502114
|
|
|
NM_006073.4(TRDN):c.62A>C (p.Asn21Thr)
|
|
|
|
NM_006073.4(TRDN):c.630T>C (p.Thr210=)
|
|
|
|
NM_006073.4(TRDN):c.651G>A (p.Lys217=)
|
rs781233223
|
|
|
NM_006073.4(TRDN):c.655A>G (p.Lys219Glu)
|
rs1562351485
|
|
|
NM_006073.4(TRDN):c.658A>T (p.Lys220Ter)
|
rs2114833320
|
|
|
NM_006073.4(TRDN):c.659A>G (p.Lys220Arg)
|
|
|
|
NM_006073.4(TRDN):c.670G>A (p.Gly224Ser)
|
|
|
|
NM_006073.4(TRDN):c.693G>A (p.Lys231=)
|
rs754258360
|
|
|
NM_006073.4(TRDN):c.705A>G (p.Ala235=)
|
rs1778803094
|
|
|
NM_006073.4(TRDN):c.712A>G (p.Lys238Glu)
|
|
|
|
NM_006073.4(TRDN):c.730C>A (p.Pro244Thr)
|
rs2114833034
|
|
|
NM_006073.4(TRDN):c.742A>G (p.Lys248Glu)
|
rs2114833012
|
|
|
NM_006073.4(TRDN):c.744del (p.Glu249fs)
|
|
|
|
NM_006073.4(TRDN):c.750G>T (p.Lys250Asn)
|
rs138912040
|
|
|
NM_006073.4(TRDN):c.779A>G (p.Lys260Arg)
|
|
|
|
NM_006073.4(TRDN):c.780G>A (p.Lys260=)
|
rs771614858
|
|
|
NM_006073.4(TRDN):c.790A>G (p.Lys264Glu)
|
rs574484615
|
|
|
NM_006073.4(TRDN):c.793+7A>G
|
rs373240967
|
|
|
NM_006073.4(TRDN):c.794-10A>G
|
|
|
|
NM_006073.4(TRDN):c.794-12C>T
|
|
|
|
NM_006073.4(TRDN):c.794-8T>A
|
|
|
|
NM_006073.4(TRDN):c.795T>A (p.Asp265Glu)
|
|
|
|
NM_006073.4(TRDN):c.798G>C (p.Gln266His)
|
rs1562347184
|
|
|
NM_006073.4(TRDN):c.802G>A (p.Ala268Thr)
|
rs1223374508
|
|
|
NM_006073.4(TRDN):c.803C>T (p.Ala268Val)
|
rs1465535140
|
|
|
NM_006073.4(TRDN):c.805T>G (p.Phe269Val)
|
|
|
|
NM_006073.4(TRDN):c.809G>A (p.Cys270Tyr)
|
rs1778487507
|
|
|
NM_006073.4(TRDN):c.80C>T (p.Ser27Phe)
|
rs770488451
|
|
|
NM_006073.4(TRDN):c.812G>C (p.Arg271Pro)
|
|
|
|
NM_006073.4(TRDN):c.81C>T (p.Ser27=)
|
rs2114538002
|
|
|
NM_006073.4(TRDN):c.829T>G (p.Phe277Val)
|
|
|
|
NM_006073.4(TRDN):c.832G>C (p.Val278Leu)
|
|
|
|
NM_006073.4(TRDN):c.833T>C (p.Val278Ala)
|
rs954714094
|
|
|
NM_006073.4(TRDN):c.836A>G (p.His279Arg)
|
rs1251196961
|
|
|
NM_006073.4(TRDN):c.839G>A (p.Gly280Glu)
|
rs903971281
|
|
|
NM_006073.4(TRDN):c.840G>T (p.Gly280=)
|
|
|
|
NM_006073.4(TRDN):c.842A>T (p.Asp281Val)
|
|
|
|
NM_006073.4(TRDN):c.853+10G>A
|
|
|
|
NM_006073.4(TRDN):c.854-10C>A
|
|
|
|
NM_006073.4(TRDN):c.854-13C>G
|
|
|
|
NM_006073.4(TRDN):c.854-17A>G
|
rs1776700892
|
|
|
NM_006073.4(TRDN):c.854-4G>A
|
|
|
|
NM_006073.4(TRDN):c.856_890del (p.Gln286fs)
|
|
|
|
NM_006073.4(TRDN):c.865G>A (p.Ala289Thr)
|
|
|
|
NM_006073.4(TRDN):c.872C>T (p.Pro291Leu)
|
rs530972011
|
|
|
NM_006073.4(TRDN):c.874C>T (p.Pro292Ser)
|
|
|
|
NM_006073.4(TRDN):c.876T>A (p.Pro292=)
|
|
|
|
NM_006073.4(TRDN):c.87A>T (p.Gly29=)
|
|
|
|
NM_006073.4(TRDN):c.899C>G (p.Ser300Cys)
|
rs2114709180
|
|
|
NM_006073.4(TRDN):c.901A>C (p.Arg301=)
|
|
|
|
NM_006073.4(TRDN):c.90A>T (p.Lys30Asn)
|
rs2114537932
|
|
|
NM_006073.4(TRDN):c.91del (p.Val31fs)
|
rs2114537918
|
|
|
NM_006073.4(TRDN):c.920C>T (p.Pro307Leu)
|
|
|
|
NM_006073.4(TRDN):c.923C>T (p.Ala308Val)
|
rs1776696081
|
|
|
NM_006073.4(TRDN):c.925C>T (p.Leu309Phe)
|
|
|
|
NM_006073.4(TRDN):c.92T>A (p.Val31Glu)
|
|
|
|
NM_006073.4(TRDN):c.931+18del
|
rs201431159
|
|
|
NM_006073.4(TRDN):c.931+18dup
|
rs201431159
|
|
|
NM_006073.4(TRDN):c.931+9T>C
|
rs2114709001
|
|
|
NM_006073.4(TRDN):c.945A>G (p.Glu315=)
|
|
|
|
NM_006073.4(TRDN):c.946AAG[2] (p.Lys318del)
|
rs1774734616
|
|
|
NM_006073.4(TRDN):c.947A>T (p.Lys316Met)
|
|
|
|
NM_006073.4(TRDN):c.948G>A (p.Lys316=)
|
rs1060504473
|
|
|
NM_006073.4(TRDN):c.94C>A (p.Leu32Met)
|
rs755548582
|
|
|
NM_006073.4(TRDN):c.963G>A (p.Lys321=)
|
|
|
|
NM_006073.4(TRDN):c.984A>T (p.Lys328Asn)
|
rs1774733806
|
|
|
NM_006073.4(TRDN):c.991+19A>G
|
|
|
|
NM_006073.4(TRDN):c.992-15T>C
|
|
|
|
NM_006073.4(TRDN):c.9G>C (p.Glu3Asp)
|
rs1185669572
|
|
|
NM_006086.4(TUBB3):c.935C>T (p.Thr312Met)
|
rs777771368
|
|
|
NM_006888.6(CALM1):c.161A>T (p.Asn54Ile)
|
rs267607276
|
|
|
NM_006888.6(CALM1):c.293A>G (p.Asn98Ser)
|
rs267607277
|
|
|
NM_013266.4(CTNNA3):c.100-1G>A
|
|
|
|
NM_013266.4(CTNNA3):c.100-7A>G
|
rs201986002
|
|
|
NM_013266.4(CTNNA3):c.1006C>T (p.Arg336Cys)
|
rs375721994
|
|
|
NM_013266.4(CTNNA3):c.1009_1015del (p.Gln337fs)
|
|
|
|
NM_013266.4(CTNNA3):c.1012G>A (p.Ala338Thr)
|
rs763229606
|
|
|
NM_013266.4(CTNNA3):c.1012G>C (p.Ala338Pro)
|
|
|
|
NM_013266.4(CTNNA3):c.1047+3A>G
|
|
|
|
NM_013266.4(CTNNA3):c.1048-12dup
|
|
|
|
NM_013266.4(CTNNA3):c.1048-19C>T
|
rs367593058
|
|
|
NM_013266.4(CTNNA3):c.1048-3C>A
|
rs1840261441
|
|
|
NM_013266.4(CTNNA3):c.1048G>A (p.Ala350Thr)
|
|
|
|
NM_013266.4(CTNNA3):c.1059del (p.Glu354fs)
|
rs1351207870
|
|
|
NM_013266.4(CTNNA3):c.1073C>T (p.Thr358Ile)
|
rs751471841
|
|
|
NM_013266.4(CTNNA3):c.1095C>T (p.Asn365=)
|
|
|
|
NM_013266.4(CTNNA3):c.1101T>A (p.Cys367Ter)
|
|
|
|
NM_013266.4(CTNNA3):c.1105A>T (p.Lys369Ter)
|
rs1840257862
|
|
|
NM_013266.4(CTNNA3):c.1107_1108delinsAC (p.Thr370Pro)
|
|
|
|
NM_013266.4(CTNNA3):c.1114G>A (p.Asp372Asn)
|
|
|
|
NM_013266.4(CTNNA3):c.1121G>A (p.Arg374His)
|
rs1360269534
|
|
|
NM_013266.4(CTNNA3):c.1128+14G>A
|
|
|
|
NM_013266.4(CTNNA3):c.1128+16G>C
|
|
|
|
NM_013266.4(CTNNA3):c.1128+2T>A
|
rs1564675010
|
|
|
NM_013266.4(CTNNA3):c.1128+2T>C
|
rs1564675010
|
|
|
NM_013266.4(CTNNA3):c.1128+8A>C
|
|
|
|
NM_013266.4(CTNNA3):c.1129-11T>C
|
|
|
|
NM_013266.4(CTNNA3):c.1129-18T>C
|
|
|
|
NM_013266.4(CTNNA3):c.1135A>C (p.Lys379Gln)
|
|
|
|
NM_013266.4(CTNNA3):c.1144A>G (p.Ile382Val)
|
|
|
|
NM_013266.4(CTNNA3):c.1145T>C (p.Ile382Thr)
|
|
|
|
NM_013266.4(CTNNA3):c.1152T>C (p.His384=)
|
|
|
|
NM_013266.4(CTNNA3):c.1171G>A (p.Asp391Asn)
|
|
|
|
NM_013266.4(CTNNA3):c.1178C>A (p.Thr393Lys)
|
|
|
|
NM_013266.4(CTNNA3):c.1179A>G (p.Thr393=)
|
|
|
|
NM_013266.4(CTNNA3):c.1182C>T (p.Val394=)
|
rs927559123
|
|
|
NM_013266.4(CTNNA3):c.1183C>A (p.Pro395Thr)
|
rs1554848924
|
|
|
NM_013266.4(CTNNA3):c.1191G>C (p.Leu397Phe)
|
|
|
|
NM_013266.4(CTNNA3):c.1191G>T (p.Leu397Phe)
|
|
|
|
NM_013266.4(CTNNA3):c.1199T>C (p.Ile400Thr)
|
|
|
|
NM_013266.4(CTNNA3):c.1205C>A (p.Ala402Asp)
|
rs1352266937
|
|
|
NM_013266.4(CTNNA3):c.1222G>A (p.Glu408Lys)
|
|
|
|
NM_013266.4(CTNNA3):c.1233A>G (p.Ile411Met)
|
rs1554848898
|
|
|
NM_013266.4(CTNNA3):c.1236A>G (p.Lys412=)
|
rs150167695
|
|
|
NM_013266.4(CTNNA3):c.1241A>G (p.Tyr414Cys)
|
rs2132785561
|
|
|
NM_013266.4(CTNNA3):c.1242T>C (p.Tyr414=)
|
|
|
|
NM_013266.4(CTNNA3):c.1281+14A>G
|
|
|
|
NM_013266.4(CTNNA3):c.1282-13G>C
|
rs1333654338
|
|
|
NM_013266.4(CTNNA3):c.1282-4T>G
|
|
|
|
NM_013266.4(CTNNA3):c.1291C>G (p.Leu431Val)
|
|
|
|
NM_013266.4(CTNNA3):c.1299T>G (p.Cys433Trp)
|
|
|
|
NM_013266.4(CTNNA3):c.1304T>C (p.Met435Thr)
|
|
|
|
NM_013266.4(CTNNA3):c.1307C>T (p.Ser436Leu)
|
|
|
|
NM_013266.4(CTNNA3):c.1321G>A (p.Gly441Arg)
|
|
|
|
NM_013266.4(CTNNA3):c.1324A>G (p.Ile442Val)
|
|
|
|
NM_013266.4(CTNNA3):c.1345G>A (p.Ala449Thr)
|
|
|
|
NM_013266.4(CTNNA3):c.1346C>G (p.Ala449Gly)
|
rs2132317654
|
|
|
NM_013266.4(CTNNA3):c.134_135del (p.Pro44_Ser45insTer)
|
|
|
|
NM_013266.4(CTNNA3):c.1361C>G (p.Thr454Ser)
|
|
|
|
NM_013266.4(CTNNA3):c.1365G>A (p.Leu455=)
|
rs1173333011
|
|
|
NM_013266.4(CTNNA3):c.1368T>G (p.Cys456Trp)
|
|
|
|
NM_013266.4(CTNNA3):c.1373A>G (p.Gln458Arg)
|
|
|
|
NM_013266.4(CTNNA3):c.1374+10C>A
|
|
|
|
NM_013266.4(CTNNA3):c.1374+12_1374+13del
|
|
|
|
NM_013266.4(CTNNA3):c.1374+14G>C
|
|
|
|
NM_013266.4(CTNNA3):c.1374+9A>G
|
|
|
|
NM_013266.4(CTNNA3):c.1386T>G (p.Ala462=)
|
|
|
|
NM_013266.4(CTNNA3):c.1401T>A (p.Ala467=)
|
|
|
|
NM_013266.4(CTNNA3):c.1422G>T (p.Ala474=)
|
|
|
|
NM_013266.4(CTNNA3):c.1431C>A (p.Asn477Lys)
|
|
|
|
NM_013266.4(CTNNA3):c.1441A>T (p.Met481Leu)
|
|
|
|
NM_013266.4(CTNNA3):c.1444T>C (p.Tyr482His)
|
|
|
|
NM_013266.4(CTNNA3):c.1450C>A (p.Arg484Ser)
|
rs200182913
|
|
|
NM_013266.4(CTNNA3):c.1455A>C (p.Thr485=)
|
|
|
|
NM_013266.4(CTNNA3):c.1455A>G (p.Thr485=)
|
rs573782659
|
|
|
NM_013266.4(CTNNA3):c.1461G>T (p.Glu487Asp)
|
|
|
|
NM_013266.4(CTNNA3):c.1469T>C (p.Ile490Thr)
|
|
|
|
NM_013266.4(CTNNA3):c.1489G>A (p.Val497Ile)
|
|
|
|
NM_013266.4(CTNNA3):c.1496A>C (p.Asp499Ala)
|
|
|
|
NM_013266.4(CTNNA3):c.1498A>T (p.Ile500Phe)
|
|
|
|
NM_013266.4(CTNNA3):c.1501A>G (p.Thr501Ala)
|
|
|
|
NM_013266.4(CTNNA3):c.150A>G (p.Gly50=)
|
|
|
|
NM_013266.4(CTNNA3):c.1523C>A (p.Ala508Asp)
|
|
|
|
NM_013266.4(CTNNA3):c.1524T>A (p.Ala508=)
|
|
|
|
NM_013266.4(CTNNA3):c.1525G>A (p.Val509Ile)
|
|
|
|
NM_013266.4(CTNNA3):c.152G>A (p.Arg51His)
|
|
|
|
NM_013266.4(CTNNA3):c.1531+12T>A
|
rs2132020695
|
|
|
NM_013266.4(CTNNA3):c.1531+1G>T
|
|
|
|
NM_013266.4(CTNNA3):c.1531+5G>A
|
|
|
|
NM_013266.4(CTNNA3):c.1532-1G>A
|
rs756034227
|
|
|
NM_013266.4(CTNNA3):c.1532-7C>T
|
rs1465457123
|
|
|
NM_013266.4(CTNNA3):c.1536C>T (p.Ser512=)
|
rs1060504519
|
|
|
NM_013266.4(CTNNA3):c.1549G>C (p.Asp517His)
|
|
|
|
NM_013266.4(CTNNA3):c.1556A>C (p.Asn519Thr)
|
|
|
|
NM_013266.4(CTNNA3):c.1558A>C (p.Lys520Gln)
|
|
|
|
NM_013266.4(CTNNA3):c.1560G>A (p.Lys520=)
|
|
|
|
NM_013266.4(CTNNA3):c.1561T>G (p.Cys521Gly)
|
|
|
|
NM_013266.4(CTNNA3):c.156G>A (p.Ser52=)
|
rs61759502
|
|
|
NM_013266.4(CTNNA3):c.1571C>G (p.Ala524Gly)
|
rs1589162805
|
|
|
NM_013266.4(CTNNA3):c.1577G>A (p.Arg526Lys)
|
|
|
|
NM_013266.4(CTNNA3):c.1577_1586dup (p.Asp529fs)
|
|
|
|
NM_013266.4(CTNNA3):c.1581C>A (p.Asp527Glu)
|
|
|
|
NM_013266.4(CTNNA3):c.1587_1588delinsAT (p.Asp529_Ala530delinsGluSer)
|
rs1554949356
|
|
|
NM_013266.4(CTNNA3):c.1611G>T (p.Ala537=)
|
|
|
|
NM_013266.4(CTNNA3):c.1612G>T (p.Gly538Cys)
|
|
|
|
NM_013266.4(CTNNA3):c.1614T>C (p.Gly538=)
|
rs2092818203
|
|
|
NM_013266.4(CTNNA3):c.1617T>C (p.Ala539=)
|
rs2132488633
|
|
|
NM_013266.4(CTNNA3):c.1620C>T (p.Ile540=)
|
|
|
|
NM_013266.4(CTNNA3):c.1624G>A (p.Gly542Ser)
|
|
|
|
NM_013266.4(CTNNA3):c.1645C>A (p.His549Asn)
|
rs1302576659
|
|
|
NM_013266.4(CTNNA3):c.1646A>T (p.His549Leu)
|
|
|
|
NM_013266.4(CTNNA3):c.1669A>G (p.Ser557Gly)
|
rs768735520
|
|
|
NM_013266.4(CTNNA3):c.1675G>A (p.Glu559Lys)
|
|
|
|
NM_013266.4(CTNNA3):c.16C>G (p.Pro6Ala)
|
rs756147614
|
|
|
NM_013266.4(CTNNA3):c.16C>T (p.Pro6Ser)
|
|
|
|
NM_013266.4(CTNNA3):c.1700T>C (p.Val567Ala)
|
|
|
|
NM_013266.4(CTNNA3):c.1703T>A (p.Met568Lys)
|
|
|
|
NM_013266.4(CTNNA3):c.1710T>C (p.Asn570=)
|
|
|
|
NM_013266.4(CTNNA3):c.1732+16A>C
|
rs775638559
|
|
|
NM_013266.4(CTNNA3):c.1732+16A>G
|
|
|
|
NM_013266.4(CTNNA3):c.1732+20C>G
|
|
|
|
NM_013266.4(CTNNA3):c.1732+6T>C
|
|
|
|
NM_013266.4(CTNNA3):c.1733-20C>T
|
rs2091476722
|
|
|
NM_013266.4(CTNNA3):c.1733-3C>T
|
|
|
|
NM_013266.4(CTNNA3):c.1748T>C (p.Val583Ala)
|
|
|
|
NM_013266.4(CTNNA3):c.174_176del (p.Leu59del)
|
|
|
|
NM_013266.4(CTNNA3):c.1757T>G (p.Val586Gly)
|
|
|
|
NM_013266.4(CTNNA3):c.1774G>T (p.Ala592Ser)
|
rs1246325935
|
|
|
NM_013266.4(CTNNA3):c.1775C>A (p.Ala592Asp)
|
|
|
|
NM_013266.4(CTNNA3):c.1775C>G (p.Ala592Gly)
|
|
|
|
NM_013266.4(CTNNA3):c.177A>G (p.Leu59=)
|
rs1564778448
|
|
|
NM_013266.4(CTNNA3):c.1787G>C (p.Ser596Thr)
|
|
|
|
NM_013266.4(CTNNA3):c.1787_1788delinsAT (p.Ser596Asn)
|
rs2091475179
|
|
|
NM_013266.4(CTNNA3):c.1792T>C (p.Leu598=)
|
rs187527391
|
|
|
NM_013266.4(CTNNA3):c.1819G>A (p.Val607Met)
|
rs1564836430
|
|
|
NM_013266.4(CTNNA3):c.181T>C (p.Ser61Pro)
|
rs1843298119
|
|
|
NM_013266.4(CTNNA3):c.1823A>G (p.Asp608Gly)
|
rs138314889
|
|
|
NM_013266.4(CTNNA3):c.1831A>G (p.Lys611Glu)
|
|
|
|
NM_013266.4(CTNNA3):c.1836G>A (p.Lys612=)
|
rs774209973
|
|
|
NM_013266.4(CTNNA3):c.1836G>T (p.Lys612Asn)
|
rs774209973
|
|
|
NM_013266.4(CTNNA3):c.1849A>G (p.Ile617Val)
|
rs2132158723
|
|
|
NM_013266.4(CTNNA3):c.1859T>A (p.Ile620Asn)
|
|
|
|
NM_013266.4(CTNNA3):c.1870G>C (p.Val624Leu)
|
|
|
|
NM_013266.4(CTNNA3):c.187G>C (p.Glu63Gln)
|
|
|
|
NM_013266.4(CTNNA3):c.1882C>A (p.Arg628=)
|
rs149081490
|
|
|
NM_013266.4(CTNNA3):c.1883G>A (p.Arg628Gln)
|
rs754792055
|
|
|
NM_013266.4(CTNNA3):c.1884+20C>T
|
|
|
|
NM_013266.4(CTNNA3):c.1884+9G>A
|
rs2132158477
|
|
|
NM_013266.4(CTNNA3):c.1885-11T>C
|
|
|
|
NM_013266.4(CTNNA3):c.1885-12T>G
|
|
|
|
NM_013266.4(CTNNA3):c.1885-19T>C
|
|
|
|
NM_013266.4(CTNNA3):c.1885-7T>C
|
|
|
|
NM_013266.4(CTNNA3):c.1897C>T (p.Leu633=)
|
rs2081724004
|
|
|
NM_013266.4(CTNNA3):c.1900G>T (p.Glu634Ter)
|
|
|
|
NM_013266.4(CTNNA3):c.1903G>A (p.Asp635Asn)
|
|
|
|
NM_013266.4(CTNNA3):c.1924G>T (p.Glu642Ter)
|
|
|
|
NM_013266.4(CTNNA3):c.1927C>T (p.His643Tyr)
|
rs141141746
|
|
|
NM_013266.4(CTNNA3):c.1933G>C (p.Val645Leu)
|
rs370600208
|
|
|
NM_013266.4(CTNNA3):c.1949G>A (p.Ser650Asn)
|
rs1060502223
|
|
|
NM_013266.4(CTNNA3):c.1953T>C (p.Ile651=)
|
|
|
|
NM_013266.4(CTNNA3):c.1959C>A (p.Thr653=)
|
|
|
|
NM_013266.4(CTNNA3):c.1971T>A (p.Thr657=)
|
|
|
|
NM_013266.4(CTNNA3):c.1977+12C>G
|
|
|
|
NM_013266.4(CTNNA3):c.1977+1G>A
|
|
|
|
NM_013266.4(CTNNA3):c.1977+9C>T
|
|
|
|
NM_013266.4(CTNNA3):c.1978-17A>C
|
|
|
|
NM_013266.4(CTNNA3):c.1978-7G>A
|
rs1466748500
|
|
|
NM_013266.4(CTNNA3):c.1A>C (p.Met1Leu)
|
rs1839754072
|
|
|
NM_013266.4(CTNNA3):c.2017A>T (p.Ile673Phe)
|
rs1485903436
|
|
|
NM_013266.4(CTNNA3):c.2041A>G (p.Lys681Glu)
|
rs142116698
|
|
|
NM_013266.4(CTNNA3):c.2053A>C (p.Ser685Arg)
|
|
|
|
NM_013266.4(CTNNA3):c.2053A>G (p.Ser685Gly)
|
rs199697536
|
|
|
NM_013266.4(CTNNA3):c.2054G>C (p.Ser685Thr)
|
rs774933459
|
|
|
NM_013266.4(CTNNA3):c.2071A>G (p.Ile691Val)
|
|
|
|
NM_013266.4(CTNNA3):c.2080T>C (p.Trp694Arg)
|
rs2080381322
|
|
|
NM_013266.4(CTNNA3):c.2097C>G (p.Asn699Lys)
|
|
|
|
NM_013266.4(CTNNA3):c.2097C>T (p.Asn699=)
|
|
|
|
NM_013266.4(CTNNA3):c.2127T>G (p.Cys709Trp)
|
rs1171326311
|
|
|
NM_013266.4(CTNNA3):c.2134A>G (p.Met712Val)
|
rs1055129880
|
|
|
NM_013266.4(CTNNA3):c.2159+2T>C
|
|
|
|
NM_013266.4(CTNNA3):c.2167G>A (p.Gly723Arg)
|
rs2133326152
|
|
|
NM_013266.4(CTNNA3):c.216G>A (p.Lys72=)
|
|
|
|
NM_013266.4(CTNNA3):c.2172A>G (p.Pro724=)
|
rs116662854
|
|
|
NM_013266.4(CTNNA3):c.2184A>G (p.Thr728=)
|
|
|
|
NM_013266.4(CTNNA3):c.2199T>C (p.Tyr733=)
|
|
|
|
NM_013266.4(CTNNA3):c.2202_2203delinsCA (p.Ala735Thr)
|
|
|
|
NM_013266.4(CTNNA3):c.2242C>T (p.Leu748Phe)
|
rs1011996986
|
|
|
NM_013266.4(CTNNA3):c.2248C>A (p.Arg750=)
|
|
|
|
NM_013266.4(CTNNA3):c.2248C>G (p.Arg750Gly)
|
|
|
|
NM_013266.4(CTNNA3):c.2248C>T (p.Arg750Trp)
|
rs149211186
|
|
|
NM_013266.4(CTNNA3):c.2248del (p.Arg750fs)
|
|
|
|
NM_013266.4(CTNNA3):c.225G>A (p.Lys75=)
|
|
|
|
NM_013266.4(CTNNA3):c.2260A>C (p.Asn754His)
|
rs142752710
|
|
|
NM_013266.4(CTNNA3):c.2265+1G>C
|
rs1589220613
|
|
|
NM_013266.4(CTNNA3):c.2265+1del
|
rs2078476986
|
|
|
NM_013266.4(CTNNA3):c.2265+2T>A
|
rs2078476917
|
|
|
NM_013266.4(CTNNA3):c.2271A>G (p.Pro757=)
|
rs372746141
|
|
|
NM_013266.4(CTNNA3):c.2278T>A (p.Ser760Thr)
|
rs760532002
|
|
|
NM_013266.4(CTNNA3):c.2282G>T (p.Cys761Phe)
|
|
|
|
NM_013266.4(CTNNA3):c.2283T>C (p.Cys761=)
|
|
|
|
NM_013266.4(CTNNA3):c.2293TTG[1] (p.Leu766del)
|
rs587777135
|
|
|
NM_013266.4(CTNNA3):c.2302T>C (p.Tyr768His)
|
|
|
|
NM_013266.4(CTNNA3):c.2322C>G (p.Phe774Leu)
|
|
|
|
NM_013266.4(CTNNA3):c.2324A>G (p.Tyr775Cys)
|
rs2077974257
|
|
|
NM_013266.4(CTNNA3):c.2334A>G (p.Gln778=)
|
|
|
|
NM_013266.4(CTNNA3):c.233A>G (p.Gln78Arg)
|
|
|
|
NM_013266.4(CTNNA3):c.2340A>C (p.Lys780Asn)
|
|
|
|
NM_013266.4(CTNNA3):c.2347A>G (p.Ser783Gly)
|
|
|
|
NM_013266.4(CTNNA3):c.2351A>G (p.Gln784Arg)
|
rs2133257128
|
|
|
NM_013266.4(CTNNA3):c.2354T>C (p.Val785Ala)
|
|
|
|
NM_013266.4(CTNNA3):c.2372A>G (p.Asn791Ser)
|
|
|
|
NM_013266.4(CTNNA3):c.2375T>C (p.Leu792Pro)
|
rs2133257020
|
|
|
NM_013266.4(CTNNA3):c.2378GAG[1] (p.Gly794del)
|
|
|
|
NM_013266.4(CTNNA3):c.2386C>T (p.Leu796Phe)
|
|
|
|
NM_013266.4(CTNNA3):c.2400+13T>C
|
|
|
|
NM_013266.4(CTNNA3):c.2400+18C>G
|
|
|
|
NM_013266.4(CTNNA3):c.2400+5G>A
|
|
|
|
NM_013266.4(CTNNA3):c.2401-18T>C
|
|
|
|
NM_013266.4(CTNNA3):c.2401-23dup
|
rs1338241471
|
|
|
NM_013266.4(CTNNA3):c.2409T>C (p.Ser803=)
|
|
|
|
NM_013266.4(CTNNA3):c.240T>C (p.Ala80=)
|
|
|
|
NM_013266.4(CTNNA3):c.2410G>A (p.Val804Ile)
|
|
|
|
NM_013266.4(CTNNA3):c.2415A>G (p.Thr805=)
|
|
|
|
NM_013266.4(CTNNA3):c.2427A>G (p.Gln809=)
|
rs2077068960
|
|
|
NM_013266.4(CTNNA3):c.243A>C (p.Thr81=)
|
|
|
|
NM_013266.4(CTNNA3):c.245T>G (p.Val82Gly)
|
|
|
|
NM_013266.4(CTNNA3):c.2460A>G (p.Gln820=)
|
rs2133106495
|
|
|
NM_013266.4(CTNNA3):c.2472G>A (p.Met824Ile)
|
|
|
|
NM_013266.4(CTNNA3):c.2478C>T (p.Tyr826=)
|
|
|
|
NM_013266.4(CTNNA3):c.2493G>T (p.Lys831Asn)
|
|
|
|
NM_013266.4(CTNNA3):c.24A>G (p.Thr8=)
|
rs1454649034
|
|
|
NM_013266.4(CTNNA3):c.2501G>A (p.Arg834Gln)
|
rs373081692
|
|
|
NM_013266.4(CTNNA3):c.2528A>G (p.His843Arg)
|
rs540211204
|
|
|
NM_013266.4(CTNNA3):c.2530C>A (p.Pro844Thr)
|
|
|
|
NM_013266.4(CTNNA3):c.2530C>G (p.Pro844Ala)
|
rs2077066633
|
|
|
NM_013266.4(CTNNA3):c.2532A>G (p.Pro844=)
|
rs2133106045
|
|
|
NM_013266.4(CTNNA3):c.2540T>C (p.Met847Thr)
|
rs1391961462
|
|
|
NM_013266.4(CTNNA3):c.254A>G (p.Asp85Gly)
|
|
|
|
NM_013266.4(CTNNA3):c.2554G>A (p.Ala852Thr)
|
|
|
|
NM_013266.4(CTNNA3):c.2554G>T (p.Ala852Ser)
|
rs778712224
|
|
|
NM_013266.4(CTNNA3):c.2563A>C (p.Lys855Gln)
|
|
|
|
NM_013266.4(CTNNA3):c.2563A>G (p.Lys855Glu)
|
rs2133105906
|
|
|
NM_013266.4(CTNNA3):c.2564A>G (p.Lys855Arg)
|
|
|
|
NM_013266.4(CTNNA3):c.2567A>C (p.Lys856Thr)
|
|
|
|
NM_013266.4(CTNNA3):c.2568dup (p.Pro857fs)
|
rs759618368
|
|
|
NM_013266.4(CTNNA3):c.2572T>C (p.Leu858=)
|
rs2133105821
|
|
|
NM_013266.4(CTNNA3):c.2582G>C (p.Arg861Thr)
|
rs1375445904
|
|
|
NM_013266.4(CTNNA3):c.2584G>A (p.Glu862Lys)
|
|
|
|
NM_013266.4(CTNNA3):c.2585A>G (p.Glu862Gly)
|
|
|
|
NM_013266.4(CTNNA3):c.2588del (p.Lys863fs)
|
rs730880073
|
|
|
NM_013266.4(CTNNA3):c.2589G>T (p.Lys863Asn)
|
rs1564515685
|
|
|
NM_013266.4(CTNNA3):c.25T>G (p.Leu9Val)
|
|
|
|
NM_013266.4(CTNNA3):c.2600C>T (p.Thr867Met)
|
|
|
|
NM_013266.4(CTNNA3):c.2617C>A (p.Arg873=)
|
rs761449098
|
|
|
NM_013266.4(CTNNA3):c.2617C>T (p.Arg873Ter)
|
rs761449098
|
|
|
NM_013266.4(CTNNA3):c.2618G>A (p.Arg873Gln)
|
|
|
|
NM_013266.4(CTNNA3):c.2638dup (p.Ile880fs)
|
rs761152565
|
|
|
NM_013266.4(CTNNA3):c.263C>T (p.Thr88Met)
|
|
|
|
NM_013266.4(CTNNA3):c.2642A>G (p.His881Arg)
|
|
|
|
NM_013266.4(CTNNA3):c.2650C>A (p.Gln884Lys)
|
|
|
|
NM_013266.4(CTNNA3):c.2654T>C (p.Val885Ala)
|
|
|
|
NM_013266.4(CTNNA3):c.2665T>C (p.Phe889Leu)
|
|
|
|
NM_013266.4(CTNNA3):c.2670A>G (p.Arg890=)
|
rs1589129191
|
|
|
NM_013266.4(CTNNA3):c.2677C>A (p.Gln893Lys)
|
|
|
|
NM_013266.4(CTNNA3):c.2684A>G (p.Tyr895Cys)
|
rs1426521596
|
|
|
NM_013266.4(CTNNA3):c.2686T>C (p.Ter896Arg)
|
rs2077062157
|
|
|
NM_013266.4(CTNNA3):c.2688A>G (p.Ter896Trp)
|
rs2133105135
|
|
|
NM_013266.4(CTNNA3):c.276G>C (p.Glu92Asp)
|
|
|
|
NM_013266.4(CTNNA3):c.281T>A (p.Val94Asp)
|
rs587777134
|
|
|
NM_013266.4(CTNNA3):c.283C>T (p.Arg95Cys)
|
rs746030160
|
|
|
NM_013266.4(CTNNA3):c.284G>A (p.Arg95His)
|
|
|
|
NM_013266.4(CTNNA3):c.284G>T (p.Arg95Leu)
|
|
|
|
NM_013266.4(CTNNA3):c.292+19G>A
|
|
|
|
NM_013266.4(CTNNA3):c.292+19G>T
|
|
|
|
NM_013266.4(CTNNA3):c.292A>G (p.Ser98Gly)
|
|
|
|
NM_013266.4(CTNNA3):c.293-10T>C
|
rs566394363
|
|
|
NM_013266.4(CTNNA3):c.293-20T>C
|
|
|
|
NM_013266.4(CTNNA3):c.324del (p.Phe108fs)
|
|
|
|
NM_013266.4(CTNNA3):c.336_337del (p.Cys113fs)
|
|
|
|
NM_013266.4(CTNNA3):c.34G>A (p.Asp12Asn)
|
rs1839752364
|
|
|
NM_013266.4(CTNNA3):c.364G>T (p.Val122Phe)
|
|
|
|
NM_013266.4(CTNNA3):c.36T>C (p.Asp12=)
|
rs2133482257
|
|
|
NM_013266.4(CTNNA3):c.376C>G (p.Arg126Gly)
|
rs373661106
|
|
|
NM_013266.4(CTNNA3):c.376C>T (p.Arg126Cys)
|
rs373661106
|
|
|
NM_013266.4(CTNNA3):c.378T>C (p.Arg126=)
|
rs2133202953
|
|
|
NM_013266.4(CTNNA3):c.388G>C (p.Ala130Pro)
|
|
|
|
NM_013266.4(CTNNA3):c.38del (p.Pro13fs)
|
rs1169564335
|
|
|
NM_013266.4(CTNNA3):c.398C>T (p.Thr133Met)
|
rs763257801
|
|
|
NM_013266.4(CTNNA3):c.405C>T (p.Leu135=)
|
rs769989476
|
|
|
NM_013266.4(CTNNA3):c.40C>T (p.Gln14Ter)
|
rs1589530547
|
|
|
NM_013266.4(CTNNA3):c.412C>A (p.Leu138Ile)
|
rs899335202
|
|
|
NM_013266.4(CTNNA3):c.416C>A (p.Ala139Glu)
|
|
|
|
NM_013266.4(CTNNA3):c.420C>T (p.Asp140=)
|
rs1309070227
|
|
|
NM_013266.4(CTNNA3):c.421A>G (p.Met141Val)
|
rs781595088
|
|
|
NM_013266.4(CTNNA3):c.431T>C (p.Val144Ala)
|
rs758058375
|
|
|
NM_013266.4(CTNNA3):c.433A>G (p.Met145Val)
|
rs778800601
|
|
|
NM_013266.4(CTNNA3):c.459+17_459+31del
|
|
|
|
NM_013266.4(CTNNA3):c.459+19A>G
|
|
|
|
NM_013266.4(CTNNA3):c.459+8A>G
|
|
|
|
NM_013266.4(CTNNA3):c.460-4T>G
|
|
|
|
NM_013266.4(CTNNA3):c.461T>C (p.Phe154Ser)
|
|
|
|
NM_013266.4(CTNNA3):c.466A>G (p.Arg156Gly)
|
|
|
|
NM_013266.4(CTNNA3):c.469A>G (p.Thr157Ala)
|
|
|
|
NM_013266.4(CTNNA3):c.473T>C (p.Phe158Ser)
|
rs1840000920
|
|
|
NM_013266.4(CTNNA3):c.480T>A (p.Ser160=)
|
rs766602512
|
|
|
NM_013266.4(CTNNA3):c.482_483del (p.Leu161fs)
|
|
|
|
NM_013266.4(CTNNA3):c.489T>C (p.Asn163=)
|
rs2133159494
|
|
|
NM_013266.4(CTNNA3):c.493G>A (p.Ala165Thr)
|
rs765439915
|
|
|
NM_013266.4(CTNNA3):c.509T>C (p.Leu170Pro)
|
|
|
|
NM_013266.4(CTNNA3):c.510C>A (p.Leu170=)
|
|
|
|
NM_013266.4(CTNNA3):c.517A>G (p.Thr173Ala)
|
rs1839999331
|
|
|
NM_013266.4(CTNNA3):c.519C>T (p.Thr173=)
|
|
|
|
NM_013266.4(CTNNA3):c.541C>A (p.Leu181Met)
|
rs1839998542
|
|
|
NM_013266.4(CTNNA3):c.563C>T (p.Ala188Val)
|
|
|
|
NM_013266.4(CTNNA3):c.572G>A (p.Arg191His)
|
|
|
|
NM_013266.4(CTNNA3):c.573T>C (p.Arg191=)
|
|
|
|
NM_013266.4(CTNNA3):c.577_579+11dup
|
|
|
|
NM_013266.4(CTNNA3):c.579G>A (p.Gln193=)
|
|
|
|
NM_013266.4(CTNNA3):c.580-14A>C
|
rs1864571588
|
|
|
NM_013266.4(CTNNA3):c.580-16T>C
|
|
|
|
NM_013266.4(CTNNA3):c.580-20del
|
|
|
|
NM_013266.4(CTNNA3):c.59C>T (p.Thr20Ile)
|
|
|
|
NM_013266.4(CTNNA3):c.602G>A (p.Arg201Lys)
|
|
|
|
NM_013266.4(CTNNA3):c.60A>G (p.Thr20=)
|
|
|
|
NM_013266.4(CTNNA3):c.617G>A (p.Gly206Glu)
|
|
|
|
NM_013266.4(CTNNA3):c.619G>T (p.Ala207Ser)
|
|
|
|
NM_013266.4(CTNNA3):c.633G>A (p.Leu211=)
|
rs2132265590
|
|
|
NM_013266.4(CTNNA3):c.639G>C (p.Glu213Asp)
|
|
|
|
NM_013266.4(CTNNA3):c.649C>G (p.Leu217Val)
|
|
|
|
NM_013266.4(CTNNA3):c.649C>T (p.Leu217Phe)
|
rs374834298
|
|
|
NM_013266.4(CTNNA3):c.654G>A (p.Leu218=)
|
|
|
|
NM_013266.4(CTNNA3):c.654G>T (p.Leu218Phe)
|
rs371330302
|
|
|
NM_013266.4(CTNNA3):c.662T>C (p.Ile221Thr)
|
|
|
|
NM_013266.4(CTNNA3):c.665G>T (p.Cys222Phe)
|
|
|
|
NM_013266.4(CTNNA3):c.674G>A (p.Cys225Tyr)
|
rs747835139
|
|
|
NM_013266.4(CTNNA3):c.698C>T (p.Ser233Phe)
|
rs1232010222
|
|
|
NM_013266.4(CTNNA3):c.699C>G (p.Ser233=)
|
rs1245665500
|
|
|
NM_013266.4(CTNNA3):c.6A>G (p.Ser2=)
|
|
|
|
NM_013266.4(CTNNA3):c.6A>T (p.Ser2=)
|
|
|
|
NM_013266.4(CTNNA3):c.721G>C (p.Val241Leu)
|
|
|
|
NM_013266.4(CTNNA3):c.722T>C (p.Val241Ala)
|
|
|
|
NM_013266.4(CTNNA3):c.730G>A (p.Glu244Lys)
|
|
|
|
NM_013266.4(CTNNA3):c.749A>G (p.Asn250Ser)
|
|
|
|
NM_013266.4(CTNNA3):c.758C>A (p.Ser253Ter)
|
|
|
|
NM_013266.4(CTNNA3):c.761del (p.Asn254fs)
|
|
|
|
NM_013266.4(CTNNA3):c.772G>A (p.Gly258Arg)
|
rs1485287209
|
|
|
NM_013266.4(CTNNA3):c.777C>A (p.Ile259=)
|
|
|
|
NM_013266.4(CTNNA3):c.778C>T (p.Gln260Ter)
|
rs2132264877
|
|
|
NM_013266.4(CTNNA3):c.78A>G (p.Leu26=)
|
|
|
|
NM_013266.4(CTNNA3):c.78A>T (p.Leu26=)
|
rs1250437620
|
|
|
NM_013266.4(CTNNA3):c.792C>T (p.Thr264=)
|
|
|
|
NM_013266.4(CTNNA3):c.793_797dup (p.Glu267fs)
|
rs2132264737
|
|
|
NM_013266.4(CTNNA3):c.802C>T (p.Pro268Ser)
|
|
|
|
NM_013266.4(CTNNA3):c.811G>A (p.Ala271Thr)
|
|
|
|
NM_013266.4(CTNNA3):c.828C>T (p.Ala276=)
|
rs2132264578
|
|
|
NM_013266.4(CTNNA3):c.843+12G>C
|
rs767324815
|
|
|
NM_013266.4(CTNNA3):c.843+1G>T
|
rs1256726247
|
|
|
NM_013266.4(CTNNA3):c.844-14T>C
|
|
|
|
NM_013266.4(CTNNA3):c.844-17A>G
|
|
|
|
NM_013266.4(CTNNA3):c.844-2A>G
|
rs766109504
|
|
|
NM_013266.4(CTNNA3):c.844-5C>G
|
rs1862484592
|
|
|
NM_013266.4(CTNNA3):c.844-6T>G
|
|
|
|
NM_013266.4(CTNNA3):c.856C>A (p.Leu286Met)
|
rs1554939194
|
|
|
NM_013266.4(CTNNA3):c.869C>T (p.Thr290Ile)
|
|
|
|
NM_013266.4(CTNNA3):c.870A>C (p.Thr290=)
|
rs369449859
|
|
|
NM_013266.4(CTNNA3):c.874A>T (p.Thr292Ser)
|
|
|
|
NM_013266.4(CTNNA3):c.882G>A (p.Glu294=)
|
rs2132138344
|
|
|
NM_013266.4(CTNNA3):c.888A>G (p.Ile296Met)
|
|
|
|
NM_013266.4(CTNNA3):c.904A>G (p.Lys302Glu)
|
rs970349800
|
|
|
NM_013266.4(CTNNA3):c.914A>G (p.Glu305Gly)
|
|
|
|
NM_013266.4(CTNNA3):c.919A>T (p.Ile307Phe)
|
rs543478300
|
|
|
NM_013266.4(CTNNA3):c.91A>G (p.Ile31Val)
|
|
|
|
NM_013266.4(CTNNA3):c.92T>A (p.Ile31Lys)
|
|
|
|
NM_013266.4(CTNNA3):c.930G>T (p.Gly310=)
|
rs144152750
|
|
|
NM_013266.4(CTNNA3):c.944C>T (p.Ala315Val)
|
|
|
|
NM_013266.4(CTNNA3):c.947A>G (p.Asp316Gly)
|
|
|
|
NM_013266.4(CTNNA3):c.951T>C (p.Ser317=)
|
|
|
|
NM_013266.4(CTNNA3):c.952T>C (p.Ser318Pro)
|
rs1564948470
|
|
|
NM_013266.4(CTNNA3):c.954A>G (p.Ser318=)
|
rs1379551332
|
|
|
NM_013266.4(CTNNA3):c.974G>C (p.Arg325Pro)
|
rs773609785
|
|
|
NM_013266.4(CTNNA3):c.979C>T (p.Arg327Trp)
|
|
|
|
NM_013266.4(CTNNA3):c.987C>T (p.Ile329=)
|
|
|
|
NM_013266.4(CTNNA3):c.988G>A (p.Ala330Thr)
|
|
|
|
NM_013266.4(CTNNA3):c.989C>T (p.Ala330Val)
|
|
|
|
NM_013266.4(CTNNA3):c.99+3A>G
|
rs1839749463
|
|
|
NM_013266.4(CTNNA3):c.999C>T (p.Asn333=)
|
rs146754105
|
|
|
NM_013266.4:c.1282-780_1531+54046del
|
|
|
|
NM_015978.3(TNNI3K):c.1538T>C (p.Leu513Pro)
|
rs1294489336
|
|
|
NM_020297.4(ABCC9):c.1884del (p.Phe628fs)
|
rs869025348
|
|
|
NM_020297.4(ABCC9):c.4512+744_4512+746delinsAAAT
|
rs869025349
|
|
|
NM_024334.3(TMEM43):c.*1080G>T
|
rs886058035
|
|
|
NM_024334.3(TMEM43):c.*1161C>A
|
rs886058036
|
|
|
NM_024334.3(TMEM43):c.*1352_*1357del
|
rs71699966
|
|
|
NM_024334.3(TMEM43):c.*1535T>C
|
rs886058038
|
|
|
NM_024334.3(TMEM43):c.*1584G>T
|
rs886058039
|
|
|
NM_024334.3(TMEM43):c.*1642T>G
|
rs886058040
|
|
|
NM_024334.3(TMEM43):c.*1677dup
|
rs886058041
|
|
|
NM_024334.3(TMEM43):c.*1700G>T
|
rs886058042
|
|
|
NM_024334.3(TMEM43):c.*270T>C
|
rs886058032
|
|
|
NM_024334.3(TMEM43):c.*766CAAAA[1]
|
rs141474582
|
|
|
NM_024334.3(TMEM43):c.1000+13G>C
|
|
|
|
NM_024334.3(TMEM43):c.1000+3A>G
|
rs1695218964
|
|
|
NM_024334.3(TMEM43):c.1001-4A>G
|
rs960212953
|
|
|
NM_024334.3(TMEM43):c.1001-6C>T
|
rs2124997132
|
|
|
NM_024334.3(TMEM43):c.1001dup (p.Asp335fs)
|
|
|
|
NM_024334.3(TMEM43):c.1004A>G (p.Asp335Gly)
|
rs1553603641
|
|
|
NM_024334.3(TMEM43):c.100G>A (p.Gly34Ser)
|
rs1376541965
|
|
|
NM_024334.3(TMEM43):c.1013C>T (p.Pro338Leu)
|
rs17856369
|
|
|
NM_024334.3(TMEM43):c.1015G>A (p.Val339Ile)
|
|
|
|
NM_024334.3(TMEM43):c.1019T>C (p.Phe340Ser)
|
rs1559363663
|
|
|
NM_024334.3(TMEM43):c.1028T>A (p.Leu343Gln)
|
|
|
|
NM_024334.3(TMEM43):c.1028T>C (p.Leu343Pro)
|
|
|
|
NM_024334.3(TMEM43):c.102T>A (p.Gly34=)
|
|
|
|
NM_024334.3(TMEM43):c.1034A>G (p.Asn345Ser)
|
rs758981622
|
|
|
NM_024334.3(TMEM43):c.1036A>G (p.Ile346Val)
|
rs2124997196
|
|
|
NM_024334.3(TMEM43):c.1041C>T (p.Gly347=)
|
rs1574942089
|
|
|
NM_024334.3(TMEM43):c.1042C>G (p.Leu348Val)
|
rs769793469
|
|
|
NM_024334.3(TMEM43):c.1050C>G (p.Ala350=)
|
|
|
|
NM_024334.3(TMEM43):c.1050C>T (p.Ala350=)
|
rs1574942095
|
|
|
NM_024334.3(TMEM43):c.105G>A (p.Gly35=)
|
|
|
|
NM_024334.3(TMEM43):c.1061G>C (p.Cys354Ser)
|
rs187262922
|
|
|
NM_024334.3(TMEM43):c.1061G>T (p.Cys354Phe)
|
rs187262922
|
|
|
NM_024334.3(TMEM43):c.1068C>G (p.Ala356=)
|
|
|
|
NM_024334.3(TMEM43):c.1068C>T (p.Ala356=)
|
|
|
|
NM_024334.3(TMEM43):c.106A>G (p.Met36Val)
|
|
|
|
NM_024334.3(TMEM43):c.1072T>C (p.Ser358Pro)
|
rs1559363695
|
|
|
NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu)
|
rs63750743
|
|
|
NM_024334.3(TMEM43):c.1075C>T (p.Leu359=)
|
rs767824014
|
|
|
NM_024334.3(TMEM43):c.1079C>T (p.Thr360Ile)
|
rs1181935816
|
|
|
NM_024334.3(TMEM43):c.107T>A (p.Met36Lys)
|
rs1695064880
|
|
|
NM_024334.3(TMEM43):c.1080C>T (p.Thr360=)
|
rs370839609
|
|
|
NM_024334.3(TMEM43):c.1086G>A (p.Leu362=)
|
|
|
|
NM_024334.3(TMEM43):c.1090G>C (p.Val364Leu)
|
rs754236206
|
|
|
NM_024334.3(TMEM43):c.1094C>T (p.Ala365Val)
|
rs1052317732
|
|
|
NM_024334.3(TMEM43):c.1097C>T (p.Ala366Val)
|
|
|
|
NM_024334.3(TMEM43):c.1100G>A (p.Gly367Asp)
|
rs794729179
|
|
|
NM_024334.3(TMEM43):c.110T>G (p.Phe37Cys)
|
rs1695064977
|
|
|
NM_024334.3(TMEM43):c.1110C>G (p.Phe370Leu)
|
|
|
|
NM_024334.3(TMEM43):c.1112A>C (p.Tyr371Ser)
|
rs752269639
|
|
|
NM_024334.3(TMEM43):c.1117C>A (p.Pro373Thr)
|
rs770871762
|
|
|
NM_024334.3(TMEM43):c.1119C>A (p.Pro373=)
|
|
|
|
NM_024334.3(TMEM43):c.1121T>C (p.Leu374Pro)
|
rs2124997342
|
|
|
NM_024334.3(TMEM43):c.1127C>A (p.Ala376Asp)
|
|
|
|
NM_024334.3(TMEM43):c.1129C>T (p.Leu377Phe)
|
|
|
|
NM_024334.3(TMEM43):c.112G>A (p.Val38Met)
|
rs977468112
|
|
|
NM_024334.3(TMEM43):c.1139C>G (p.Ala380Gly)
|
|
|
|
NM_024334.3(TMEM43):c.113T>A (p.Val38Glu)
|
rs1695065091
|
|
|
NM_024334.3(TMEM43):c.1147G>A (p.Ala383Thr)
|
rs1695250482
|
|
|
NM_024334.3(TMEM43):c.1149C>A (p.Ala383=)
|
|
|
|
NM_024334.3(TMEM43):c.1150C>G (p.Leu384Val)
|
rs193922706
|
|
|
NM_024334.3(TMEM43):c.1150C>T (p.Leu384Phe)
|
rs193922706
|
|
|
NM_024334.3(TMEM43):c.1153G>A (p.Val385Met)
|
|
|
|
NM_024334.3(TMEM43):c.1156C>T (p.Pro386Ser)
|
rs1430520295
|
|
|
NM_024334.3(TMEM43):c.1159A>G (p.Ile387Val)
|
rs541565919
|
|
|
NM_024334.3(TMEM43):c.1164T>C (p.Leu388=)
|
rs1035334505
|
|
|
NM_024334.3(TMEM43):c.1165G>A (p.Val389Ile)
|
|
|
|
NM_024334.3(TMEM43):c.1165G>T (p.Val389Phe)
|
rs1308027129
|
|
|
NM_024334.3(TMEM43):c.1167T>C (p.Val389=)
|
rs1695251041
|
|
|
NM_024334.3(TMEM43):c.1171C>T (p.Arg391Trp)
|
rs1574942204
|
|
|
NM_024334.3(TMEM43):c.1172_1184del (p.Arg391fs)
|
rs2124997454
|
|
|
NM_024334.3(TMEM43):c.1188C>T (p.Ala396=)
|
rs2124997491
|
|
|
NM_024334.3(TMEM43):c.1196T>G (p.Leu399Trp)
|
rs1559363776
|
|
|
NM_024334.3(TMEM43):c.1198G>T (p.Glu400Ter)
|
rs1252529536
|
|
|
NM_024334.3(TMEM43):c.11A>T (p.Asn4Ile)
|
|
|
|
NM_024334.3(TMEM43):c.12+16C>T
|
|
|
|
NM_024334.3(TMEM43):c.12+2T>C
|
|
|
|
NM_024334.3(TMEM43):c.12+4A>C
|
rs2124981822
|
|
|
NM_024334.3(TMEM43):c.1202del (p.Glu400_Ter401insTer)
|
|
|
|
NM_024334.3(TMEM43):c.124G>T (p.Ala42Ser)
|
rs2124985701
|
|
|
NM_024334.3(TMEM43):c.13-2A>C
|
|
|
|
NM_024334.3(TMEM43):c.13-3C>T
|
|
|
|
NM_024334.3(TMEM43):c.13-4T>C
|
rs766665492
|
|
|
NM_024334.3(TMEM43):c.135C>G (p.Leu45=)
|
|
|
|
NM_024334.3(TMEM43):c.136T>A (p.Ser46Thr)
|
rs145510310
|
|
|
NM_024334.3(TMEM43):c.140_142del (p.Phe47del)
|
|
|
|
NM_024334.3(TMEM43):c.143A>C (p.Tyr48Ser)
|
rs1553602871
|
|
|
NM_024334.3(TMEM43):c.14A>G (p.Tyr5Cys)
|
|
|
|
NM_024334.3(TMEM43):c.162+17C>T
|
rs1229821290
|
|
|
NM_024334.3(TMEM43):c.162+1G>A
|
rs1695065907
|
|
|
NM_024334.3(TMEM43):c.162+20C>T
|
|
|
|
NM_024334.3(TMEM43):c.162G>C (p.Glu54Asp)
|
rs746126153
|
|
|
NM_024334.3(TMEM43):c.163-20C>T
|
|
|
|
NM_024334.3(TMEM43):c.163-3del
|
rs371706980
|
|
|
NM_024334.3(TMEM43):c.165C>T (p.Gly55=)
|
|
|
|
NM_024334.3(TMEM43):c.169G>T (p.Ala57Ser)
|
rs151010429
|
|
|
NM_024334.3(TMEM43):c.171A>G (p.Ala57=)
|
|
|
|
NM_024334.3(TMEM43):c.177G>A (p.Lys59=)
|
rs1553602938
|
|
|
NM_024334.3(TMEM43):c.178A>G (p.Thr60Ala)
|
rs1695084121
|
|
|
NM_024334.3(TMEM43):c.186C>T (p.Thr62=)
|
|
|
|
NM_024334.3(TMEM43):c.193G>A (p.Ala65Thr)
|
rs1695084511
|
|
|
NM_024334.3(TMEM43):c.1A>G (p.Met1Val)
|
rs757083718
|
|
|
NM_024334.3(TMEM43):c.200G>T (p.Gly67Val)
|
rs766792876
|
|
|
NM_024334.3(TMEM43):c.201G>A (p.Gly67=)
|
|
|
|
NM_024334.3(TMEM43):c.203T>C (p.Leu68Pro)
|
rs1553602940
|
|
|
NM_024334.3(TMEM43):c.204C>G (p.Leu68=)
|
|
|
|
NM_024334.3(TMEM43):c.204C>T (p.Leu68=)
|
rs752403292
|
|
|
NM_024334.3(TMEM43):c.207G>C (p.Ser69=)
|
rs886058030
|
|
|
NM_024334.3(TMEM43):c.213G>T (p.Val71=)
|
rs756764750
|
|
|
NM_024334.3(TMEM43):c.218C>G (p.Ser73Cys)
|
rs200652985
|
|
|
NM_024334.3(TMEM43):c.21T>C (p.Ser7=)
|
|
|
|
NM_024334.3(TMEM43):c.21T>G (p.Ser7Arg)
|
rs371236613
|
|
|
NM_024334.3(TMEM43):c.231C>T (p.Ile77=)
|
rs899266809
|
|
|
NM_024334.3(TMEM43):c.235A>C (p.Ser79Arg)
|
rs930770110
|
|
|
NM_024334.3(TMEM43):c.236del (p.Ser79fs)
|
|
|
|
NM_024334.3(TMEM43):c.241G>A (p.Ala81Thr)
|
rs1695085843
|
|
|
NM_024334.3(TMEM43):c.241del (p.Ala81fs)
|
|
|
|
NM_024334.3(TMEM43):c.257G>A (p.Gly86Glu)
|
rs771454768
|
|
|
NM_024334.3(TMEM43):c.265G>A (p.Val89Met)
|
rs147319971
|
|
|
NM_024334.3(TMEM43):c.267G>A (p.Val89=)
|
rs763697982
|
|
|
NM_024334.3(TMEM43):c.273C>T (p.Ile91=)
|
rs764733979
|
|
|
NM_024334.3(TMEM43):c.281C>T (p.Ala94Val)
|
|
|
|
NM_024334.3(TMEM43):c.286C>A (p.Arg96=)
|
rs754797146
|
|
|
NM_024334.3(TMEM43):c.286C>T (p.Arg96Trp)
|
|
|
|
NM_024334.3(TMEM43):c.287G>A (p.Arg96Gln)
|
rs748343919
|
|
|
NM_024334.3(TMEM43):c.287G>C (p.Arg96Pro)
|
rs748343919
|
|
|
NM_024334.3(TMEM43):c.288G>A (p.Arg96=)
|
rs2124987180
|
|
|
NM_024334.3(TMEM43):c.289A>T (p.Thr97Ser)
|
rs1695087564
|
|
|
NM_024334.3(TMEM43):c.291A>T (p.Thr97=)
|
rs2124987190
|
|
|
NM_024334.3(TMEM43):c.295A>G (p.Lys99Glu)
|
|
|
|
NM_024334.3(TMEM43):c.296A>G (p.Lys99Arg)
|
rs199943048
|
|
|
NM_024334.3(TMEM43):c.297+14G>T
|
rs1695088030
|
|
|
NM_024334.3(TMEM43):c.297+16G>T
|
|
|
|
NM_024334.3(TMEM43):c.297+17A>C
|
|
|
|
NM_024334.3(TMEM43):c.298-15T>C
|
|
|
|
NM_024334.3(TMEM43):c.298-5T>A
|
rs1027914711
|
|
|
NM_024334.3(TMEM43):c.301T>C (p.Leu101=)
|
|
|
|
NM_024334.3(TMEM43):c.305C>G (p.Ser102Cys)
|
|
|
|
NM_024334.3(TMEM43):c.30C>T (p.Thr10=)
|
rs757554576
|
|
|
NM_024334.3(TMEM43):c.313A>G (p.Asn105Asp)
|
|
|
|
NM_024334.3(TMEM43):c.31C>G (p.Arg11Gly)
|
rs201085402
|
|
|
NM_024334.3(TMEM43):c.322G>T (p.Val108Phe)
|
|
|
|
NM_024334.3(TMEM43):c.326A>G (p.His109Arg)
|
rs1398278496
|
|
|
NM_024334.3(TMEM43):c.329_330del (p.Leu110fs)
|
rs2124987821
|
|
|
NM_024334.3(TMEM43):c.331C>G (p.Pro111Ala)
|
rs2124987826
|
|
|
NM_024334.3(TMEM43):c.332C>A (p.Pro111Gln)
|
rs765816901
|
|
|
NM_024334.3(TMEM43):c.332C>T (p.Pro111Leu)
|
|
|
|
NM_024334.3(TMEM43):c.337G>A (p.Val113Met)
|
rs572474708
|
|
|
NM_024334.3(TMEM43):c.346C>A (p.Arg116=)
|
rs752588115
|
|
|
NM_024334.3(TMEM43):c.348del (p.Arg117fs)
|
rs2124987856
|
|
|
NM_024334.3(TMEM43):c.349A>T (p.Arg117Trp)
|
rs1695096953
|
|
|
NM_024334.3(TMEM43):c.351G>A (p.Arg117=)
|
rs2124987872
|
|
|
NM_024334.3(TMEM43):c.351dup (p.His118fs)
|
|
|
|
NM_024334.3(TMEM43):c.352C>T (p.His118Tyr)
|
|
|
|
NM_024334.3(TMEM43):c.362T>C (p.Met121Thr)
|
rs1286177938
|
|
|
NM_024334.3(TMEM43):c.362T>G (p.Met121Arg)
|
rs1286177938
|
|
|
NM_024334.3(TMEM43):c.363G>A (p.Met121Ile)
|
rs1695097590
|
|
|
NM_024334.3(TMEM43):c.366C>T (p.Tyr122=)
|
rs2124987907
|
|
|
NM_024334.3(TMEM43):c.369A>G (p.Gln123=)
|
rs2124987912
|
|
|
NM_024334.3(TMEM43):c.371G>A (p.Trp124Ter)
|
rs2124987915
|
|
|
NM_024334.3(TMEM43):c.384G>C (p.Glu128Asp)
|
|
|
|
NM_024334.3(TMEM43):c.390C>A (p.Ser130=)
|
|
|
|
NM_024334.3(TMEM43):c.391A>C (p.Arg131=)
|
rs2124987934
|
|
|
NM_024334.3(TMEM43):c.392+16_392+32del
|
rs745331190
|
|
|
NM_024334.3(TMEM43):c.392+4A>G
|
rs397517382
|
|
|
NM_024334.3(TMEM43):c.392+6C>T
|
rs1574937711
|
|
|
NM_024334.3(TMEM43):c.393-16T>A
|
|
|
|
NM_024334.3(TMEM43):c.393-18G>A
|
|
|
|
NM_024334.3(TMEM43):c.393-19T>C
|
|
|
|
NM_024334.3(TMEM43):c.393-2A>G
|
|
|
|
NM_024334.3(TMEM43):c.393-4G>T
|
rs1247757810
|
|
|
NM_024334.3(TMEM43):c.393-6C>T
|
rs2124988705
|
|
|
NM_024334.3(TMEM43):c.393G>A (p.Arg131=)
|
rs1695110759
|
|
|
NM_024334.3(TMEM43):c.394G>A (p.Glu132Lys)
|
|
|
|
NM_024334.3(TMEM43):c.394G>T (p.Glu132Ter)
|
rs1315939046
|
|
|
NM_024334.3(TMEM43):c.395A>C (p.Glu132Ala)
|
|
|
|
NM_024334.3(TMEM43):c.396G>A (p.Glu132=)
|
|
|
|
NM_024334.3(TMEM43):c.396G>C (p.Glu132Asp)
|
rs1553603024
|
|
|
NM_024334.3(TMEM43):c.396G>T (p.Glu132Asp)
|
rs1553603024
|
|
|
NM_024334.3(TMEM43):c.39A>G (p.Glu13=)
|
rs1444701312
|
|
|
NM_024334.3(TMEM43):c.40C>T (p.His14Tyr)
|
|
|
|
NM_024334.3(TMEM43):c.414G>A (p.Gln138=)
|
|
|
|
NM_024334.3(TMEM43):c.418AAG[1] (p.Lys141del)
|
rs746639451
|
|
|
NM_024334.3(TMEM43):c.421A>G (p.Lys141Glu)
|
|
|
|
NM_024334.3(TMEM43):c.424G>C (p.Glu142Gln)
|
rs145619906
|
|
|
NM_024334.3(TMEM43):c.426G>A (p.Glu142=)
|
rs2124988827
|
|
|
NM_024334.3(TMEM43):c.442+10G>A
|
rs2124988861
|
|
|
NM_024334.3(TMEM43):c.442+13C>T
|
rs781640632
|
|
|
NM_024334.3(TMEM43):c.442+14C>T
|
|
|
|
NM_024334.3(TMEM43):c.442+19dup
|
rs768508021
|
|
|
NM_024334.3(TMEM43):c.443-13T>G
|
|
|
|
NM_024334.3(TMEM43):c.443-18A>T
|
|
|
|
NM_024334.3(TMEM43):c.443-2A>T
|
|
|
|
NM_024334.3(TMEM43):c.443-4G>A
|
|
|
|
NM_024334.3(TMEM43):c.443-5A>G
|
|
|
|
NM_024334.3(TMEM43):c.443A>G (p.Asn148Ser)
|
rs1046932119
|
|
|
NM_024334.3(TMEM43):c.446C>T (p.Thr149Ile)
|
rs1695115690
|
|
|
NM_024334.3(TMEM43):c.458C>T (p.Ser153Leu)
|
rs1369869806
|
|
|
NM_024334.3(TMEM43):c.45C>G (p.Val15=)
|
rs150334659
|
|
|
NM_024334.3(TMEM43):c.464TCA[1] (p.Ile156del)
|
rs1574938257
|
|
|
NM_024334.3(TMEM43):c.473G>A (p.Ser158Asn)
|
rs1695116123
|
|
|
NM_024334.3(TMEM43):c.47A>G (p.Lys16Arg)
|
rs770619613
|
|
|
NM_024334.3(TMEM43):c.482T>G (p.Phe161Cys)
|
|
|
|
NM_024334.3(TMEM43):c.482del (p.Phe161fs)
|
rs769722980
|
|
|
NM_024334.3(TMEM43):c.485A>G (p.Asp162Gly)
|
rs1312639832
|
|
|
NM_024334.3(TMEM43):c.488G>A (p.Arg163Gln)
|
rs759676847
|
|
|
NM_024334.3(TMEM43):c.48A>G (p.Lys16=)
|
|
|
|
NM_024334.3(TMEM43):c.492G>A (p.Glu164=)
|
rs949064136
|
|
|
NM_024334.3(TMEM43):c.492G>C (p.Glu164Asp)
|
rs949064136
|
|
|
NM_024334.3(TMEM43):c.495T>C (p.Ile165=)
|
|
|
|
NM_024334.3(TMEM43):c.497G>T (p.Gly166Val)
|
|
|
|
NM_024334.3(TMEM43):c.499C>G (p.His167Asp)
|
rs1553603052
|
|
|
NM_024334.3(TMEM43):c.4G>C (p.Ala2Pro)
|
rs1695000807
|
|
|
NM_024334.3(TMEM43):c.502A>G (p.Lys168Glu)
|
|
|
|
NM_024334.3(TMEM43):c.511A>G (p.Ser171Gly)
|
|
|
|
NM_024334.3(TMEM43):c.511A>T (p.Ser171Cys)
|
rs2124989219
|
|
|
NM_024334.3(TMEM43):c.512+15C>T
|
|
|
|
NM_024334.3(TMEM43):c.512+19G>A
|
rs114026215
|
|
|
NM_024334.3(TMEM43):c.512+19G>T
|
rs114026215
|
|
|
NM_024334.3(TMEM43):c.512+7G>A
|
rs2124989229
|
|
|
NM_024334.3(TMEM43):c.512+9C>G
|
rs2124989236
|
|
|
NM_024334.3(TMEM43):c.513-11C>T
|
rs1695130290
|
|
|
NM_024334.3(TMEM43):c.513-14C>T
|
|
|
|
NM_024334.3(TMEM43):c.513-16T>G
|
|
|
|
NM_024334.3(TMEM43):c.513-17C>A
|
rs1230270948
|
|
|
NM_024334.3(TMEM43):c.513-17C>T
|
|
|
|
NM_024334.3(TMEM43):c.513-18G>A
|
|
|
|
NM_024334.3(TMEM43):c.513-20C>T
|
rs1054904116
|
|
|
NM_024334.3(TMEM43):c.513-7C>T
|
|
|
|
NM_024334.3(TMEM43):c.513-8T>C
|
rs2124989875
|
|
|
NM_024334.3(TMEM43):c.513-9C>G
|
rs369551282
|
|
|
NM_024334.3(TMEM43):c.51T>G (p.Val17=)
|
rs397517383
|
|
|
NM_024334.3(TMEM43):c.536_537inv (p.Met179Thr)
|
|
|
|
NM_024334.3(TMEM43):c.544G>A (p.Ala182Thr)
|
rs757013233
|
|
|
NM_024334.3(TMEM43):c.545C>T (p.Ala182Val)
|
rs1394010451
|
|
|
NM_024334.3(TMEM43):c.548C>T (p.Pro183Leu)
|
rs746116143
|
|
|
NM_024334.3(TMEM43):c.548_559del (p.Pro183_Ile187delinsLeu)
|
|
|
|
NM_024334.3(TMEM43):c.549C>G (p.Pro183=)
|
|
|
|
NM_024334.3(TMEM43):c.552T>C (p.Phe184=)
|
|
|
|
NM_024334.3(TMEM43):c.556C>T (p.Gln186Ter)
|
rs1553603107
|
|
|
NM_024334.3(TMEM43):c.55del (p.Thr19fs)
|
|
|
|
NM_024334.3(TMEM43):c.568T>A (p.Phe190Ile)
|
rs768718054
|
|
|
NM_024334.3(TMEM43):c.573C>T (p.Phe191=)
|
rs1276996116
|
|
|
NM_024334.3(TMEM43):c.576C>T (p.Leu192=)
|
rs1574938735
|
|
|
NM_024334.3(TMEM43):c.57C>G (p.Thr19=)
|
|
|
|
NM_024334.3(TMEM43):c.583+10A>T
|
rs760105643
|
|
|
NM_024334.3(TMEM43):c.583+13C>T
|
|
|
|
NM_024334.3(TMEM43):c.583+16C>T
|
|
|
|
NM_024334.3(TMEM43):c.583+4A>G
|
rs1574938748
|
|
|
NM_024334.3(TMEM43):c.583+5G>A
|
|
|
|
NM_024334.3(TMEM43):c.583+7C>T
|
|
|
|
NM_024334.3(TMEM43):c.583+9C>G
|
|
|
|
NM_024334.3(TMEM43):c.584-15C>T
|
rs1298507684
|
|
|
NM_024334.3(TMEM43):c.584-18C>T
|
|
|
|
NM_024334.3(TMEM43):c.584-4T>A
|
rs2124990773
|
|
|
NM_024334.3(TMEM43):c.584-5C>T
|
rs932265324
|
|
|
NM_024334.3(TMEM43):c.584-7C>G
|
rs773841507
|
|
|
NM_024334.3(TMEM43):c.584-7C>T
|
|
|
|
NM_024334.3(TMEM43):c.584G>C (p.Gly195Ala)
|
rs1458517961
|
|
|
NM_024334.3(TMEM43):c.584G>T (p.Gly195Val)
|
|
|
|
NM_024334.3(TMEM43):c.588C>T (p.Leu196=)
|
|
|
|
NM_024334.3(TMEM43):c.599T>C (p.Val200Ala)
|
rs2124990795
|
|
|
NM_024334.3(TMEM43):c.59G>A (p.Ser20Asn)
|
|
|
|
NM_024334.3(TMEM43):c.59G>C (p.Ser20Thr)
|
rs1261978753
|
|
|
NM_024334.3(TMEM43):c.605A>T (p.Asn202Ile)
|
rs958959766
|
|
|
NM_024334.3(TMEM43):c.60C>T (p.Ser20=)
|
|
|
|
NM_024334.3(TMEM43):c.611A>G (p.Lys204Arg)
|
rs568657650
|
|
|
NM_024334.3(TMEM43):c.614C>T (p.Ser205Phe)
|
rs769787683
|
|
|
NM_024334.3(TMEM43):c.615C>G (p.Ser205=)
|
rs761287242
|
|
|
NM_024334.3(TMEM43):c.622C>T (p.Leu208=)
|
rs1246435835
|
|
|
NM_024334.3(TMEM43):c.62C>G (p.Ser21Cys)
|
|
|
|
NM_024334.3(TMEM43):c.631C>G (p.Leu211Val)
|
rs1209223184
|
|
|
NM_024334.3(TMEM43):c.634G>C (p.Glu212Gln)
|
|
|
|
NM_024334.3(TMEM43):c.640C>G (p.Pro214Ala)
|
rs1574939150
|
|
|
NM_024334.3(TMEM43):c.644A>T (p.His215Leu)
|
rs730880225
|
|
|
NM_024334.3(TMEM43):c.645T>C (p.His215=)
|
rs370782259
|
|
|
NM_024334.3(TMEM43):c.645T>G (p.His215Gln)
|
rs370782259
|
|
|
NM_024334.3(TMEM43):c.646G>T (p.Val216Leu)
|
rs143735210
|
|
|
NM_024334.3(TMEM43):c.652A>G (p.Ile218Val)
|
|
|
|
NM_024334.3(TMEM43):c.65A>G (p.Gln22Arg)
|
|
|
|
NM_024334.3(TMEM43):c.662G>T (p.Arg221Leu)
|
|
|
|
NM_024334.3(TMEM43):c.667G>T (p.Asp223Tyr)
|
|
|
|
NM_024334.3(TMEM43):c.668A>T (p.Asp223Val)
|
|
|
|
NM_024334.3(TMEM43):c.66_67insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAACCAGCTCCCAG (p.Pro23delinsAlaGlyArgGlyGlySerArgLeuTer)
|
|
|
|
NM_024334.3(TMEM43):c.670T>C (p.Phe224Leu)
|
rs1695146244
|
|
|
NM_024334.3(TMEM43):c.674del (p.Phe225fs)
|
rs1559361774
|
|
|
NM_024334.3(TMEM43):c.675C>G (p.Phe225Leu)
|
rs1559361776
|
|
|
NM_024334.3(TMEM43):c.679C>T (p.His227Tyr)
|
rs201460674
|
|
|
NM_024334.3(TMEM43):c.685G>A (p.Glu229Lys)
|
rs1304261093
|
|
|
NM_024334.3(TMEM43):c.696G>C (p.Lys232Asn)
|
|
|
|
NM_024334.3(TMEM43):c.699T>A (p.Tyr233Ter)
|
rs1321317891
|
|
|
NM_024334.3(TMEM43):c.699T>C (p.Tyr233=)
|
|
|
|
NM_024334.3(TMEM43):c.69A>C (p.Pro23=)
|
rs767619018
|
|
|
NM_024334.3(TMEM43):c.703G>A (p.Glu235Lys)
|
rs1574939228
|
|
|
NM_024334.3(TMEM43):c.704A>G (p.Glu235Gly)
|
rs751419150
|
|
|
NM_024334.3(TMEM43):c.705+12G>A
|
rs2124991000
|
|
|
NM_024334.3(TMEM43):c.705+14C>G
|
rs983517574
|
|
|
NM_024334.3(TMEM43):c.705+7G>C
|
rs201916031
|
|
|
NM_024334.3(TMEM43):c.706-13C>T
|
|
|
|
NM_024334.3(TMEM43):c.706-15C>G
|
|
|
|
NM_024334.3(TMEM43):c.706-1G>A
|
rs764377071
|
|
|
NM_024334.3(TMEM43):c.706-1G>T
|
|
|
|
NM_024334.3(TMEM43):c.706-20T>C
|
rs1001419903
|
|
|
NM_024334.3(TMEM43):c.706-3C>A
|
|
|
|
NM_024334.3(TMEM43):c.706-3del
|
|
|
|
NM_024334.3(TMEM43):c.706-4C>G
|
rs760936714
|
|
|
NM_024334.3(TMEM43):c.706-6C>T
|
rs1404287765
|
|
|
NM_024334.3(TMEM43):c.710G>A (p.Gly237Glu)
|
|
|
|
NM_024334.3(TMEM43):c.712G>A (p.Asp238Asn)
|
rs2124991270
|
|
|
NM_024334.3(TMEM43):c.714C>T (p.Asp238=)
|
|
|
|
NM_024334.3(TMEM43):c.718C>G (p.Arg240Gly)
|
rs367910936
|
|
|
NM_024334.3(TMEM43):c.723C>T (p.Val241=)
|
|
|
|
NM_024334.3(TMEM43):c.725C>G (p.Ser242Cys)
|
|
|
|
NM_024334.3(TMEM43):c.743T>C (p.Leu248Pro)
|
rs774356401
|
|
|
NM_024334.3(TMEM43):c.744G>A (p.Leu248=)
|
rs533455369
|
|
|
NM_024334.3(TMEM43):c.749dup (p.Asp251fs)
|
rs1695151947
|
|
|
NM_024334.3(TMEM43):c.753T>C (p.Asp251=)
|
rs2124991349
|
|
|
NM_024334.3(TMEM43):c.756C>T (p.Asp252=)
|
|
|
|
NM_024334.3(TMEM43):c.759T>C (p.Pro253=)
|
|
|
|
NM_024334.3(TMEM43):c.760_780+2dup
|
rs1559361931
|
|
|
NM_024334.3(TMEM43):c.764T>C (p.Leu255Pro)
|
rs1343395046
|
|
|
NM_024334.3(TMEM43):c.767G>A (p.Gly256Asp)
|
rs2124991379
|
|
|
NM_024334.3(TMEM43):c.778G>T (p.Val260Leu)
|
|
|
|
NM_024334.3(TMEM43):c.77T>C (p.Leu26Pro)
|
rs2124985579
|
|
|
NM_024334.3(TMEM43):c.780+13C>T
|
|
|
|
NM_024334.3(TMEM43):c.780+19G>A
|
rs2124991426
|
|
|
NM_024334.3(TMEM43):c.780+5C>A
|
|
|
|
NM_024334.3(TMEM43):c.780+7T>G
|
|
|
|
NM_024334.3(TMEM43):c.781-10C>G
|
rs1695161102
|
|
|
NM_024334.3(TMEM43):c.781-16C>T
|
|
|
|
NM_024334.3(TMEM43):c.781-17C>A
|
|
|
|
NM_024334.3(TMEM43):c.781-17C>G
|
|
|
|
NM_024334.3(TMEM43):c.781-19C>T
|
|
|
|
NM_024334.3(TMEM43):c.781-4C>G
|
rs1445555724
|
|
|
NM_024334.3(TMEM43):c.781-7T>A
|
|
|
|
NM_024334.3(TMEM43):c.788_789del (p.Val263fs)
|
rs1489814713
|
|
|
NM_024334.3(TMEM43):c.792T>C (p.Ile264=)
|
rs1408153534
|
|
|
NM_024334.3(TMEM43):c.795C>T (p.Ala265=)
|
|
|
|
NM_024334.3(TMEM43):c.7G>A (p.Ala3Thr)
|
|
|
|
NM_024334.3(TMEM43):c.803G>A (p.Arg268Gln)
|
rs769969149
|
|
|
NM_024334.3(TMEM43):c.804G>A (p.Arg268=)
|
|
|
|
NM_024334.3(TMEM43):c.809A>G (p.Asp270Gly)
|
rs1201367358
|
|
|
NM_024334.3(TMEM43):c.810C>T (p.Asp270=)
|
rs763026916
|
|
|
NM_024334.3(TMEM43):c.813G>A (p.Gln271=)
|
|
|
|
NM_024334.3(TMEM43):c.814C>T (p.Leu272=)
|
rs759993739
|
|
|
NM_024334.3(TMEM43):c.824T>G (p.Phe275Cys)
|
|
|
|
NM_024334.3(TMEM43):c.833A>G (p.Lys278Arg)
|
rs1427535931
|
|
|
NM_024334.3(TMEM43):c.834G>C (p.Lys278Asn)
|
|
|
|
NM_024334.3(TMEM43):c.837T>G (p.Ser279=)
|
rs751086845
|
|
|
NM_024334.3(TMEM43):c.83G>C (p.Arg28Pro)
|
rs757651177
|
|
|
NM_024334.3(TMEM43):c.841G>A (p.Asp281Asn)
|
|
|
|
NM_024334.3(TMEM43):c.844A>G (p.Thr282Ala)
|
|
|
|
NM_024334.3(TMEM43):c.846C>A (p.Thr282=)
|
rs1384290838
|
|
|
NM_024334.3(TMEM43):c.846C>T (p.Thr282=)
|
rs1384290838
|
|
|
NM_024334.3(TMEM43):c.850C>G (p.Leu284Val)
|
rs727504764
|
|
|
NM_024334.3(TMEM43):c.850C>T (p.Leu284=)
|
|
|
|
NM_024334.3(TMEM43):c.852_853delinsAA (p.Leu285Ile)
|
rs1695163023
|
|
|
NM_024334.3(TMEM43):c.855C>T (p.Leu285=)
|
|
|
|
NM_024334.3(TMEM43):c.861C>G (p.His287Gln)
|
rs886039048
|
|
|
NM_024334.3(TMEM43):c.862C>T (p.His288Tyr)
|
rs771028028
|
|
|
NM_024334.3(TMEM43):c.866G>A (p.Gly289Glu)
|
|
|
|
NM_024334.3(TMEM43):c.867G>A (p.Gly289=)
|
|
|
|
NM_024334.3(TMEM43):c.877G>A (p.Ala293Thr)
|
rs1060501357
|
|
|
NM_024334.3(TMEM43):c.878C>A (p.Ala293Glu)
|
rs1695163617
|
|
|
NM_024334.3(TMEM43):c.882+12G>A
|
|
|
|
NM_024334.3(TMEM43):c.882+17A>C
|
|
|
|
NM_024334.3(TMEM43):c.882+18C>T
|
rs1695163911
|
|
|
NM_024334.3(TMEM43):c.882+20C>T
|
rs1695163974
|
|
|
NM_024334.3(TMEM43):c.883-13C>A
|
|
|
|
NM_024334.3(TMEM43):c.883-15C>G
|
|
|
|
NM_024334.3(TMEM43):c.883-16C>T
|
rs2124995118
|
|
|
NM_024334.3(TMEM43):c.883-6C>T
|
|
|
|
NM_024334.3(TMEM43):c.886G>A (p.Val296Met)
|
rs1695216015
|
|
|
NM_024334.3(TMEM43):c.887T>C (p.Val296Ala)
|
|
|
|
NM_024334.3(TMEM43):c.889T>A (p.Phe297Ile)
|
rs990243563
|
|
|
NM_024334.3(TMEM43):c.894T>C (p.His298=)
|
|
|
|
NM_024334.3(TMEM43):c.895dup (p.Arg299fs)
|
rs1695216412
|
|
|
NM_024334.3(TMEM43):c.898G>T (p.Glu300Ter)
|
rs746029667
|
|
|
NM_024334.3(TMEM43):c.89G>A (p.Ser30Asn)
|
rs570799464
|
|
|
NM_024334.3(TMEM43):c.905G>A (p.Arg302Lys)
|
rs539945827
|
|
|
NM_024334.3(TMEM43):c.908G>A (p.Ser303Asn)
|
|
|
|
NM_024334.3(TMEM43):c.914C>A (p.Ser305Tyr)
|
rs777277570
|
|
|
NM_024334.3(TMEM43):c.917_918delinsCT (p.Met306Thr)
|
rs1553603453
|
|
|
NM_024334.3(TMEM43):c.923C>T (p.Thr308Ile)
|
|
|
|
NM_024334.3(TMEM43):c.924C>G (p.Thr308=)
|
|
|
|
NM_024334.3(TMEM43):c.924C>T (p.Thr308=)
|
|
|
|
NM_024334.3(TMEM43):c.925T>C (p.Trp309Arg)
|
|
|
|
NM_024334.3(TMEM43):c.928G>T (p.Gly310Cys)
|
|
|
|
NM_024334.3(TMEM43):c.929del (p.Gly310fs)
|
rs2124995245
|
|
|
NM_024334.3(TMEM43):c.937G>A (p.Ala313Thr)
|
rs2124995269
|
|
|
NM_024334.3(TMEM43):c.944G>T (p.Gly315Val)
|
|
|
|
NM_024334.3(TMEM43):c.955A>G (p.Met319Val)
|
|
|
|
NM_024334.3(TMEM43):c.965G>T (p.Gly322Val)
|
rs1553603462
|
|
|
NM_024334.3(TMEM43):c.970A>G (p.Asn324Asp)
|
rs1365389365
|
|
|
NM_024334.3(TMEM43):c.971A>T (p.Asn324Ile)
|
|
|
|
NM_024334.3(TMEM43):c.971del (p.Asn324fs)
|
rs1553603465
|
|
|
NM_024334.3(TMEM43):c.985A>C (p.Ile329Leu)
|
rs1060501358
|
|
|
NM_024334.3(TMEM43):c.990C>G (p.Leu330=)
|
|
|
|
NM_024334.3(TMEM43):c.990C>T (p.Leu330=)
|
rs780129544
|
|
|
NM_024334.3(TMEM43):c.992A>G (p.Tyr331Cys)
|
|
|
|
NM_024334.3(TMEM43):c.99G>C (p.Ser33=)
|
rs147710692
|
|
|
NM_024334.3(TMEM43):c.99_120del (p.Gly34fs)
|
|
|
|
NM_024422.6(DSC2):c.*1003T>C
|
rs1986642855
|
|
|
NM_024422.6(DSC2):c.*1126G>T
|
rs886053687
|
|
|
NM_024422.6(DSC2):c.*1183G>A
|
rs886053686
|
|
|
NM_024422.6(DSC2):c.*133G>A
|
rs139923163
|
|
|
NM_024422.6(DSC2):c.*137A>G
|
rs78190086
|
|
|
NM_024422.6(DSC2):c.*1453C>T
|
rs886053683
|
|
|
NM_024422.6(DSC2):c.*1700T>C
|
rs1986617619
|
|
|
NM_024422.6(DSC2):c.*1877T>G
|
rs1986611103
|
|
|
NM_024422.6(DSC2):c.*1923C>A
|
rs886053682
|
|
|
NM_024422.6(DSC2):c.*422C>T
|
rs769685892
|
|
|
NM_024422.6(DSC2):c.*640G>T
|
rs886053691
|
|
|
NM_024422.6(DSC2):c.*692A>G
|
rs1986657464
|
|
|
NM_024422.6(DSC2):c.*705G>A
|
rs372988931
|
|
|
NM_024422.6(DSC2):c.*709CT[3]
|
rs886053690
|
|
|
NM_024422.6(DSC2):c.*764del
|
rs796836744
|
|
|
NM_024422.6(DSC2):c.*764dup
|
rs796836744
|
|
|
NM_024422.6(DSC2):c.*798T>C
|
rs1208729636
|
|
|
NM_024422.6(DSC2):c.*833G>C
|
rs886053689
|
|
|
NM_024422.6(DSC2):c.*926G>A
|
rs1188292553
|
|
|
NM_024422.6(DSC2):c.*934C>A
|
rs886053688
|
|
|
NM_024422.6(DSC2):c.-20A>C
|
rs886053696
|
|
|
NM_024422.6(DSC2):c.-277T>A
|
rs1567987522
|
|
|
NM_024422.6(DSC2):c.-365T>A
|
rs775956339
|
|
|
NM_024422.6(DSC2):c.-392G>A
|
rs886053702
|
|
|
NM_024422.6(DSC2):c.-409C>T
|
rs1309020903
|
|
|
NM_024422.6(DSC2):c.-424G>T
|
rs555722283
|
|
|
NM_024422.6(DSC2):c.-42C>T
|
rs886053697
|
|
|
NM_024422.6(DSC2):c.-95C>G
|
rs1386005114
|
|
|
NM_024422.6(DSC2):c.1005A>G (p.Leu335=)
|
|
|
|
NM_024422.6(DSC2):c.1020T>G (p.Thr340=)
|
|
|
|
NM_024422.6(DSC2):c.1022G>T (p.Cys341Phe)
|
|
|
|
NM_024422.6(DSC2):c.1023dup (p.Ile342fs)
|
rs768389941
|
|
|
NM_024422.6(DSC2):c.1025T>A (p.Ile342Asn)
|
|
|
|
NM_024422.6(DSC2):c.1027A>G (p.Ile343Val)
|
rs1409325550
|
|
|
NM_024422.6(DSC2):c.1028T>C (p.Ile343Thr)
|
rs1567978329
|
|
|
NM_024422.6(DSC2):c.1029T>C (p.Ile343=)
|
rs1555639124
|
|
|
NM_024422.6(DSC2):c.1038T>C (p.Asp346=)
|
rs2144821248
|
|
|
NM_024422.6(DSC2):c.1041T>C (p.Asp347=)
|
rs758394251
|
|
|
NM_024422.6(DSC2):c.1053_1059del (p.His351fs)
|
rs1373100329
|
|
|
NM_024422.6(DSC2):c.1054T>A (p.Leu352Met)
|
rs2144821150
|
|
|
NM_024422.6(DSC2):c.1058C>T (p.Pro353Leu)
|
rs1208688367
|
|
|
NM_024422.6(DSC2):c.1066A>T (p.Thr356Ser)
|
rs2144821078
|
|
|
NM_024422.6(DSC2):c.106A>G (p.Thr36Ala)
|
rs2144850401
|
|
|
NM_024422.6(DSC2):c.1072A>C (p.Thr358Pro)
|
|
|
|
NM_024422.6(DSC2):c.1073C>A (p.Thr358Asn)
|
rs139399951
|
|
|
NM_024422.6(DSC2):c.1077+9A>G
|
rs369381870
|
|
|
NM_024422.6(DSC2):c.1078-6T>G
|
rs1555639038
|
|
|
NM_024422.6(DSC2):c.1078-7A>G
|
rs781417647
|
|
|
NM_024422.6(DSC2):c.1095A>T (p.Glu365Asp)
|
|
|
|
NM_024422.6(DSC2):c.1102A>G (p.Thr368Ala)
|
rs1598583223
|
|
|
NM_024422.6(DSC2):c.1105G>A (p.Val369Ile)
|
|
|
|
NM_024422.6(DSC2):c.110_114del (p.Leu37fs)
|
rs2144850365
|
|
|
NM_024422.6(DSC2):c.1111G>A (p.Val371Met)
|
rs1252791235
|
|
|
NM_024422.6(DSC2):c.1123C>G (p.Arg375Gly)
|
rs794728075
|
|
|
NM_024422.6(DSC2):c.1134T>C (p.Val378=)
|
rs921023156
|
|
|
NM_024422.6(DSC2):c.1140T>C (p.Asp380=)
|
rs1252165791
|
|
|
NM_024422.6(DSC2):c.1145A>T (p.Asp382Val)
|
|
|
|
NM_024422.6(DSC2):c.114T>A (p.His38Gln)
|
rs1987672342
|
|
|
NM_024422.6(DSC2):c.114T>C (p.His38=)
|
|
|
|
NM_024422.6(DSC2):c.1177T>G (p.Tyr393Asp)
|
|
|
|
NM_024422.6(DSC2):c.1187T>G (p.Leu396Ter)
|
|
|
|
NM_024422.6(DSC2):c.1187dup (p.Leu396fs)
|
|
|
|
NM_024422.6(DSC2):c.118C>A (p.Pro40Thr)
|
|
|
|
NM_024422.6(DSC2):c.1192G>A (p.Gly398Ser)
|
rs1060502991
|
|
|
NM_024422.6(DSC2):c.1204G>T (p.Gly402Cys)
|
rs1598583039
|
|
|
NM_024422.6(DSC2):c.1205G>T (p.Gly402Val)
|
|
|
|
NM_024422.6(DSC2):c.1215A>T (p.Lys405Asn)
|
rs781472939
|
|
|
NM_024422.6(DSC2):c.1239T>A (p.Asn413Lys)
|
rs765511398
|
|
|
NM_024422.6(DSC2):c.1239T>G (p.Asn413Lys)
|
rs765511398
|
|
|
NM_024422.6(DSC2):c.123del (p.Lys42fs)
|
rs1598592533
|
|
|
NM_024422.6(DSC2):c.1247T>C (p.Val416Ala)
|
|
|
|
NM_024422.6(DSC2):c.1255G>A (p.Val419Ile)
|
|
|
|
NM_024422.6(DSC2):c.1256T>C (p.Val419Ala)
|
|
|
|
NM_024422.6(DSC2):c.1260T>C (p.Val420=)
|
rs2144818822
|
|
|
NM_024422.6(DSC2):c.1260del (p.Lys421fs)
|
|
|
|
NM_024422.6(DSC2):c.1263+12T>C
|
|
|
|
NM_024422.6(DSC2):c.1263+14A>T
|
|
|
|
NM_024422.6(DSC2):c.1263+19A>G
|
|
|
|
NM_024422.6(DSC2):c.1263+2dup
|
rs1987243669
|
|
|
NM_024422.6(DSC2):c.1263+3_1263+4insG
|
rs1987243436
|
|
|
NM_024422.6(DSC2):c.1263+5G>T
|
|
|
|
NM_024422.6(DSC2):c.1263+8_1263+10del
|
rs2144818765
|
|
|
NM_024422.6(DSC2):c.1264-11T>G
|
|
|
|
NM_024422.6(DSC2):c.1264-15C>T
|
rs1361768625
|
|
|
NM_024422.6(DSC2):c.1264-19A>G
|
|
|
|
NM_024422.6(DSC2):c.1264-1G>A
|
rs2144814453
|
|
|
NM_024422.6(DSC2):c.1264C>T (p.Pro422Ser)
|
|
|
|
NM_024422.6(DSC2):c.1280A>G (p.Glu427Gly)
|
|
|
|
NM_024422.6(DSC2):c.1281A>C (p.Glu427Asp)
|
rs1238451971
|
|
|
NM_024422.6(DSC2):c.1284G>A (p.Lys428=)
|
rs1987176408
|
|
|
NM_024422.6(DSC2):c.1289A>G (p.Gln430Arg)
|
|
|
|
NM_024422.6(DSC2):c.128T>C (p.Leu43Pro)
|
|
|
|
NM_024422.6(DSC2):c.1290G>C (p.Gln430His)
|
rs191461349
|
|
|
NM_024422.6(DSC2):c.1296C>G (p.Ile432Met)
|
|
|
|
NM_024422.6(DSC2):c.129A>G (p.Leu43=)
|
rs1987671247
|
|
|
NM_024422.6(DSC2):c.12C>A (p.Ala4=)
|
rs1555641335
|
|
|
NM_024422.6(DSC2):c.1307G>T (p.Gly436Val)
|
rs763981974
|
|
|
NM_024422.6(DSC2):c.1312G>C (p.Val438Leu)
|
|
|
|
NM_024422.6(DSC2):c.1313T>C (p.Val438Ala)
|
|
|
|
NM_024422.6(DSC2):c.1316A>C (p.Asn439Thr)
|
|
|
|
NM_024422.6(DSC2):c.1317T>C (p.Asn439=)
|
rs1987173870
|
|
|
NM_024422.6(DSC2):c.1321G>A (p.Ala441Thr)
|
rs2144814171
|
|
|
NM_024422.6(DSC2):c.1321_1329del (p.Ala441_Phe443del)
|
rs1987173347
|
|
|
NM_024422.6(DSC2):c.1323T>C (p.Ala441=)
|
rs745795354
|
|
|
NM_024422.6(DSC2):c.1323T>G (p.Ala441=)
|
rs745795354
|
|
|
NM_024422.6(DSC2):c.1324C>G (p.Pro442Ala)
|
|
|
|
NM_024422.6(DSC2):c.1324C>T (p.Pro442Ser)
|
rs201480399
|
|
|
NM_024422.6(DSC2):c.1326A>G (p.Pro442=)
|
|
|
|
NM_024422.6(DSC2):c.133del (p.Ala45fs)
|
|
|
|
NM_024422.6(DSC2):c.1340C>G (p.Ala447Gly)
|
|
|
|
NM_024422.6(DSC2):c.1341_1355del (p.Ser448_Ala452del)
|
rs1301674152
|
|
|
NM_024422.6(DSC2):c.1343G>A (p.Ser448Asn)
|
rs778959850
|
|
|
NM_024422.6(DSC2):c.1344T>A (p.Ser448Arg)
|
|
|
|
NM_024422.6(DSC2):c.1345C>G (p.Pro449Ala)
|
|
|
|
NM_024422.6(DSC2):c.1346C>G (p.Pro449Arg)
|
rs1394323673
|
|
|
NM_024422.6(DSC2):c.1350A>C (p.Arg450Ser)
|
rs144242114
|
|
|
NM_024422.6(DSC2):c.1350A>G (p.Arg450=)
|
rs144242114
|
|
|
NM_024422.6(DSC2):c.1352C>T (p.Ser451Leu)
|
rs794728068
|
|
|
NM_024422.6(DSC2):c.1358T>C (p.Met453Thr)
|
|
|
|
NM_024422.6(DSC2):c.1370_1371dup (p.Val458fs)
|
rs1987170019
|
|
|
NM_024422.6(DSC2):c.1371A>G (p.Thr457=)
|
rs1555638728
|
|
|
NM_024422.6(DSC2):c.1374T>A (p.Val458=)
|
rs1295460147
|
|
|
NM_024422.6(DSC2):c.1396G>C (p.Asp466His)
|
|
|
|
NM_024422.6(DSC2):c.1405C>T (p.Pro469Ser)
|
rs2144813745
|
|
|
NM_024422.6(DSC2):c.1418C>T (p.Pro473Leu)
|
rs1987166340
|
|
|
NM_024422.6(DSC2):c.1424T>C (p.Ile475Thr)
|
rs1022023137
|
|
|
NM_024422.6(DSC2):c.1427A>C (p.Gln476Pro)
|
|
|
|
NM_024422.6(DSC2):c.142C>G (p.Leu48Val)
|
rs769776739
|
|
|
NM_024422.6(DSC2):c.142C>T (p.Leu48Phe)
|
rs769776739
|
|
|
NM_024422.6(DSC2):c.1430del (p.Thr477fs)
|
rs397514041
|
|
|
NM_024422.6(DSC2):c.1436G>A (p.Arg479His)
|
rs774641579
|
|
|
NM_024422.6(DSC2):c.1436G>T (p.Arg479Leu)
|
rs774641579
|
|
|
NM_024422.6(DSC2):c.1446A>G (p.Glu482=)
|
|
|
|
NM_024422.6(DSC2):c.1452A>G (p.Ala484=)
|
rs1555638690
|
|
|
NM_024422.6(DSC2):c.1466C>T (p.Thr489Ile)
|
|
|
|
NM_024422.6(DSC2):c.1470C>G (p.Ser490Arg)
|
rs1237446574
|
|
|
NM_024422.6(DSC2):c.1475G>C (p.Gly492Ala)
|
|
|
|
NM_024422.6(DSC2):c.1477T>C (p.Tyr493His)
|
|
|
|
NM_024422.6(DSC2):c.1478A>G (p.Tyr493Cys)
|
rs1987162049
|
|
|
NM_024422.6(DSC2):c.1486del (p.Tyr496fs)
|
rs1987161799
|
|
|
NM_024422.6(DSC2):c.1494A>G (p.Pro498=)
|
|
|
|
NM_024422.6(DSC2):c.1505G>T (p.Ser502Ile)
|
|
|
|
NM_024422.6(DSC2):c.1510A>G (p.Ser504Gly)
|
rs750965801
|
|
|
NM_024422.6(DSC2):c.1514G>A (p.Gly505Asp)
|
rs1987160435
|
|
|
NM_024422.6(DSC2):c.1520+1G>A
|
|
|
|
NM_024422.6(DSC2):c.1520+20A>T
|
|
|
|
NM_024422.6(DSC2):c.1520+4C>T
|
|
|
|
NM_024422.6(DSC2):c.1521-11A>G
|
|
|
|
NM_024422.6(DSC2):c.1521-14A>G
|
|
|
|
NM_024422.6(DSC2):c.1521-23_1521-8del
|
|
|
|
NM_024422.6(DSC2):c.1523A>G (p.Tyr508Cys)
|
rs1987155402
|
|
|
NM_024422.6(DSC2):c.154+15A>C
|
|
|
|
NM_024422.6(DSC2):c.154+1G>A
|
rs397517393
|
|
|
NM_024422.6(DSC2):c.154+2T>C
|
rs747424133
|
|
|
NM_024422.6(DSC2):c.154+9G>A
|
rs562001495
|
|
|
NM_024422.6(DSC2):c.1540C>G (p.Pro514Ala)
|
|
|
|
NM_024422.6(DSC2):c.1543A>G (p.Thr515Ala)
|
rs771406828
|
|
|
NM_024422.6(DSC2):c.1547G>C (p.Gly516Ala)
|
|
|
|
NM_024422.6(DSC2):c.154G>A (p.Val52Ile)
|
|
|
|
NM_024422.6(DSC2):c.155-13A>G
|
|
|
|
NM_024422.6(DSC2):c.155-15G>A
|
|
|
|
NM_024422.6(DSC2):c.155-17G>A
|
|
|
|
NM_024422.6(DSC2):c.155-17G>T
|
|
|
|
NM_024422.6(DSC2):c.1552G>A (p.Val518Ile)
|
rs397517394
|
|
|
NM_024422.6(DSC2):c.1556C>G (p.Thr519Ser)
|
|
|
|
NM_024422.6(DSC2):c.1557C>T (p.Thr519=)
|
rs778658088
|
|
|
NM_024422.6(DSC2):c.155T>A (p.Val52Asp)
|
|
|
|
NM_024422.6(DSC2):c.155T>C (p.Val52Ala)
|
rs1987629779
|
|
|
NM_024422.6(DSC2):c.1562A>C (p.Asp521Ala)
|
rs1987152292
|
|
|
NM_024422.6(DSC2):c.1565A>C (p.Glu522Ala)
|
|
|
|
NM_024422.6(DSC2):c.1571C>G (p.Thr524Arg)
|
|
|
|
NM_024422.6(DSC2):c.1571del (p.Thr524fs)
|
rs2144812824
|
|
|
NM_024422.6(DSC2):c.1575A>T (p.Gly525=)
|
|
|
|
NM_024422.6(DSC2):c.1577C>A (p.Ser526Ter)
|
rs887847751
|
|
|
NM_024422.6(DSC2):c.158A>T (p.Asn53Ile)
|
|
|
|
NM_024422.6(DSC2):c.1591A>G (p.Arg531Gly)
|
rs727502981
|
|
|
NM_024422.6(DSC2):c.1593A>C (p.Arg531Ser)
|
rs762973455
|
|
|
NM_024422.6(DSC2):c.1595G>A (p.Ser532Asn)
|
rs1987150000
|
|
|
NM_024422.6(DSC2):c.1600G>A (p.Asp534Asn)
|
rs1555638635
|
|
|
NM_024422.6(DSC2):c.1608G>A (p.Glu536=)
|
|
|
|
NM_024422.6(DSC2):c.1615A>G (p.Thr539Ala)
|
|
|
|
NM_024422.6(DSC2):c.1620C>A (p.Ile540=)
|
rs765374888
|
|
|
NM_024422.6(DSC2):c.1620C>G (p.Ile540Met)
|
rs765374888
|
|
|
NM_024422.6(DSC2):c.1620C>T (p.Ile540=)
|
|
|
|
NM_024422.6(DSC2):c.1647C>T (p.Val549=)
|
rs2144812470
|
|
|
NM_024422.6(DSC2):c.1653A>G (p.Ala551=)
|
rs1021990449
|
|
|
NM_024422.6(DSC2):c.1658A>G (p.Asp553Gly)
|
|
|
|
NM_024422.6(DSC2):c.1660C>T (p.Gln554Ter)
|
rs878853170
|
|
|
NM_024422.6(DSC2):c.1661A>G (p.Gln554Arg)
|
rs1987145211
|
|
|
NM_024422.6(DSC2):c.1663+9T>C
|
|
|
|
NM_024422.6(DSC2):c.1664-10A>G
|
|
|
|
NM_024422.6(DSC2):c.1664-17dup
|
|
|
|
NM_024422.6(DSC2):c.1664-19T>C
|
|
|
|
NM_024422.6(DSC2):c.1664-1G>C
|
rs776877367
|
|
|
NM_024422.6(DSC2):c.1676G>A (p.Cys559Tyr)
|
rs773866217
|
|
|
NM_024422.6(DSC2):c.1686A>C (p.Thr562=)
|
rs1986964013
|
|
|
NM_024422.6(DSC2):c.168G>C (p.Glu56Asp)
|
rs1555640202
|
|
|
NM_024422.6(DSC2):c.1694T>G (p.Ile565Ser)
|
rs1986963426
|
|
|
NM_024422.6(DSC2):c.16C>G (p.Pro6Ala)
|
|
|
|
NM_024422.6(DSC2):c.16C>T (p.Pro6Ser)
|
|
|
|
NM_024422.6(DSC2):c.1707C>A (p.Asp569Glu)
|
rs201517977
|
|
|
NM_024422.6(DSC2):c.1707C>T (p.Asp569=)
|
rs201517977
|
|
|
NM_024422.6(DSC2):c.1708G>A (p.Val570Met)
|
rs992887444
|
|
|
NM_024422.6(DSC2):c.1715A>T (p.Asp572Val)
|
rs1030017004
|
|
|
NM_024422.6(DSC2):c.1717A>G (p.Asn573Asp)
|
rs1057518818
|
|
|
NM_024422.6(DSC2):c.171C>T (p.Cys57=)
|
|
|
|
NM_024422.6(DSC2):c.1720_1733del (p.Asn573_Ser574insTer)
|
rs2144800227
|
|
|
NM_024422.6(DSC2):c.1728C>T (p.Phe576=)
|
rs1458351294
|
|
|
NM_024422.6(DSC2):c.1730T>C (p.Ile577Thr)
|
rs2144800248
|
|
|
NM_024422.6(DSC2):c.1731A>G (p.Ile577Met)
|
rs2144800239
|
|
|
NM_024422.6(DSC2):c.1733C>T (p.Pro578Leu)
|
|
|
|
NM_024422.6(DSC2):c.1734T>G (p.Pro578=)
|
|
|
|
NM_024422.6(DSC2):c.1738A>G (p.Lys580Glu)
|
|
|
|
NM_024422.6(DSC2):c.173T>G (p.Phe58Cys)
|
|
|
|
NM_024422.6(DSC2):c.1741A>C (p.Thr581Pro)
|
rs1266547190
|
|
|
NM_024422.6(DSC2):c.1744G>A (p.Val582Met)
|
|
|
|
NM_024422.6(DSC2):c.1745T>C (p.Val582Ala)
|
rs1986959880
|
|
|
NM_024422.6(DSC2):c.1750A>G (p.Ile584Val)
|
rs755041461
|
|
|
NM_024422.6(DSC2):c.1750A>T (p.Ile584Phe)
|
rs755041461
|
|
|
NM_024422.6(DSC2):c.1752C>T (p.Ile584=)
|
|
|
|
NM_024422.6(DSC2):c.1762A>T (p.Thr588Ser)
|
|
|
|
NM_024422.6(DSC2):c.1765A>G (p.Met589Val)
|
rs1442456553
|
|
|
NM_024422.6(DSC2):c.1766T>A (p.Met589Lys)
|
rs201856473
|
|
|
NM_024422.6(DSC2):c.1780A>C (p.Ile594Leu)
|
rs1365493039
|
|
|
NM_024422.6(DSC2):c.1780A>G (p.Ile594Val)
|
rs1365493039
|
|
|
NM_024422.6(DSC2):c.1786G>C (p.Ala596Pro)
|
|
|
|
NM_024422.6(DSC2):c.1795C>G (p.Pro599Ala)
|
|
|
|
NM_024422.6(DSC2):c.17C>T (p.Pro6Leu)
|
rs1378826078
|
|
|
NM_024422.6(DSC2):c.180T>A (p.Ala60=)
|
rs2144847012
|
|
|
NM_024422.6(DSC2):c.1811A>G (p.His604Arg)
|
|
|
|
NM_024422.6(DSC2):c.1812T>A (p.His604Gln)
|
rs781010501
|
|
|
NM_024422.6(DSC2):c.1812T>C (p.His604=)
|
|
|
|
NM_024422.6(DSC2):c.1815C>T (p.Gly605=)
|
rs770678394
|
|
|
NM_024422.6(DSC2):c.1824T>C (p.Phe608=)
|
|
|
|
NM_024422.6(DSC2):c.182C>G (p.Ala61Gly)
|
rs758707293
|
|
|
NM_024422.6(DSC2):c.182C>T (p.Ala61Val)
|
|
|
|
NM_024422.6(DSC2):c.1830T>C (p.Phe610=)
|
rs1986953386
|
|
|
NM_024422.6(DSC2):c.1833T>C (p.Ser611=)
|
rs2144799607
|
|
|
NM_024422.6(DSC2):c.1837G>C (p.Glu613Gln)
|
rs777716519
|
|
|
NM_024422.6(DSC2):c.1840A>G (p.Ser614Gly)
|
rs1986952876
|
|
|
NM_024422.6(DSC2):c.1840_1841dup (p.Ser614fs)
|
rs2144799555
|
|
|
NM_024422.6(DSC2):c.1846A>T (p.Thr616Ser)
|
rs753887142
|
|
|
NM_024422.6(DSC2):c.1848T>A (p.Thr616=)
|
|
|
|
NM_024422.6(DSC2):c.1852G>A (p.Glu618Lys)
|
|
|
|
NM_024422.6(DSC2):c.1858C>T (p.Gln620Ter)
|
rs1986951516
|
|
|
NM_024422.6(DSC2):c.1867T>C (p.Trp623Arg)
|
|
|
|
NM_024422.6(DSC2):c.186T>A (p.Asn62Lys)
|
rs748644229
|
|
|
NM_024422.6(DSC2):c.1875G>A (p.Leu625=)
|
rs142594406
|
|
|
NM_024422.6(DSC2):c.1879G>A (p.Ala627Thr)
|
|
|
|
NM_024422.6(DSC2):c.1882A>G (p.Ile628Val)
|
rs1986950360
|
|
|
NM_024422.6(DSC2):c.1888+1G>C
|
rs1986950096
|
|
|
NM_024422.6(DSC2):c.1888+20G>A
|
|
|
|
NM_024422.6(DSC2):c.1888+2T>C
|
|
|
|
NM_024422.6(DSC2):c.1889-14A>G
|
|
|
|
NM_024422.6(DSC2):c.1889A>T (p.Asp630Val)
|
|
|
|
NM_024422.6(DSC2):c.1892C>A (p.Thr631Lys)
|
|
|
|
NM_024422.6(DSC2):c.1892C>T (p.Thr631Ile)
|
|
|
|
NM_024422.6(DSC2):c.189A>G (p.Leu63=)
|
rs1347894973
|
|
|
NM_024422.6(DSC2):c.1907C>G (p.Ser636Cys)
|
rs764355417
|
|
|
NM_024422.6(DSC2):c.1913_1916del (p.Gln638fs)
|
rs1452512048
|
|
|
NM_024422.6(DSC2):c.1918G>A (p.Asp640Asn)
|
rs267605146
|
|
|
NM_024422.6(DSC2):c.1920dup (p.Pro641fs)
|
rs2144791672
|
|
|
NM_024422.6(DSC2):c.1932dup (p.Ser645fs)
|
rs1448467079
|
|
|
NM_024422.6(DSC2):c.1934C>T (p.Ser645Leu)
|
rs1339580561
|
|
|
NM_024422.6(DSC2):c.1935A>G (p.Ser645=)
|
rs878855084
|
|
|
NM_024422.6(DSC2):c.1936T>A (p.Tyr646Asn)
|
|
|
|
NM_024422.6(DSC2):c.1938T>C (p.Tyr646=)
|
rs397517395
|
|
|
NM_024422.6(DSC2):c.1939G>A (p.Val647Ile)
|
|
|
|
NM_024422.6(DSC2):c.1939del (p.Tyr646_Val647insTer)
|
rs1986844120
|
|
|
NM_024422.6(DSC2):c.193C>G (p.His65Asp)
|
rs2144846957
|
|
|
NM_024422.6(DSC2):c.1940T>C (p.Val647Ala)
|
rs1986843978
|
|
|
NM_024422.6(DSC2):c.1956G>T (p.Val652=)
|
|
|
|
NM_024422.6(DSC2):c.1957A>G (p.Arg653Gly)
|
rs1598573489
|
|
|
NM_024422.6(DSC2):c.1960G>A (p.Asp654Asn)
|
rs1315556709
|
|
|
NM_024422.6(DSC2):c.1965A>G (p.Arg655=)
|
|
|
|
NM_024422.6(DSC2):c.1970G>T (p.Gly657Val)
|
rs1986842583
|
|
|
NM_024422.6(DSC2):c.1977T>C (p.Ser659=)
|
rs770010850
|
|
|
NM_024422.6(DSC2):c.1980T>C (p.Ser660=)
|
rs1986841255
|
|
|
NM_024422.6(DSC2):c.1994A>G (p.Asp665Gly)
|
rs778236763
|
|
|
NM_024422.6(DSC2):c.19T>C (p.Ser7Pro)
|
rs774977340
|
|
|
NM_024422.6(DSC2):c.1A>G (p.Met1Val)
|
rs1026402319
|
|
|
NM_024422.6(DSC2):c.2010C>T (p.Asp670=)
|
|
|
|
NM_024422.6(DSC2):c.2012G>A (p.Cys671Tyr)
|
|
|
|
NM_024422.6(DSC2):c.2012_2013delinsCT (p.Cys671Ser)
|
rs869025387
|
|
|
NM_024422.6(DSC2):c.2013C>T (p.Cys671=)
|
rs2144791194
|
|
|
NM_024422.6(DSC2):c.2014A>G (p.Ile672Val)
|
rs375842356
|
|
|
NM_024422.6(DSC2):c.2032A>G (p.Thr678Ala)
|
|
|
|
NM_024422.6(DSC2):c.2033C>T (p.Thr678Ile)
|
rs794728062
|
|
|
NM_024422.6(DSC2):c.2038C>A (p.Arg680Ser)
|
rs757253682
|
|
|
NM_024422.6(DSC2):c.2038C>T (p.Arg680Cys)
|
rs757253682
|
|
|
NM_024422.6(DSC2):c.2039G>A (p.Arg680His)
|
rs374002111
|
|
|
NM_024422.6(DSC2):c.2045A>T (p.Asp682Val)
|
|
|
|
NM_024422.6(DSC2):c.2049A>C (p.Pro683=)
|
|
|
|
NM_024422.6(DSC2):c.2054T>C (p.Ile685Thr)
|
rs1598573230
|
|
|
NM_024422.6(DSC2):c.2058C>T (p.Gly686=)
|
rs1177700048
|
|
|
NM_024422.6(DSC2):c.2059G>C (p.Gly687Arg)
|
rs199616533
|
|
|
NM_024422.6(DSC2):c.205C>A (p.Pro69Thr)
|
|
|
|
NM_024422.6(DSC2):c.2061T>C (p.Gly687=)
|
|
|
|
NM_024422.6(DSC2):c.2074C>A (p.Leu692Ile)
|
|
|
|
NM_024422.6(DSC2):c.2075T>C (p.Leu692Pro)
|
rs1567972995
|
|
|
NM_024422.6(DSC2):c.2096C>A (p.Ala699Glu)
|
|
|
|
NM_024422.6(DSC2):c.2096C>T (p.Ala699Val)
|
rs2144790608
|
|
|
NM_024422.6(DSC2):c.2097A>G (p.Ala699=)
|
|
|
|
NM_024422.6(DSC2):c.2098A>G (p.Ile700Val)
|
rs1986830558
|
|
|
NM_024422.6(DSC2):c.2100_2102dup (p.Leu702dup)
|
rs2144790582
|
|
|
NM_024422.6(DSC2):c.2102T>G (p.Leu701Trp)
|
|
|
|
NM_024422.6(DSC2):c.2103G>T (p.Leu701Phe)
|
|
|
|
NM_024422.6(DSC2):c.2106G>A (p.Leu702=)
|
|
|
|
NM_024422.6(DSC2):c.2108G>A (p.Gly703Asp)
|
|
|
|
NM_024422.6(DSC2):c.2110A>C (p.Ile704Leu)
|
rs1986830020
|
|
|
NM_024422.6(DSC2):c.2112_2116del (p.Phe708fs)
|
rs1555637555
|
|
|
NM_024422.6(DSC2):c.2113G>A (p.Ala705Thr)
|
rs1986829904
|
|
|
NM_024422.6(DSC2):c.2116T>C (p.Leu706=)
|
rs1986829654
|
|
|
NM_024422.6(DSC2):c.211T>G (p.Phe71Val)
|
|
|
|
NM_024422.6(DSC2):c.2124T>C (p.Phe708=)
|
|
|
|
NM_024422.6(DSC2):c.2124T>G (p.Phe708Leu)
|
|
|
|
NM_024422.6(DSC2):c.2125+1del
|
rs794728072
|
|
|
NM_024422.6(DSC2):c.2125+8T>C
|
|
|
|
NM_024422.6(DSC2):c.2125+9T>G
|
rs1555637547
|
|
|
NM_024422.6(DSC2):c.2126-11_2126-8del
|
rs1476161781
|
|
|
NM_024422.6(DSC2):c.2126-15dup
|
|
|
|
NM_024422.6(DSC2):c.2126-20A>C
|
|
|
|
NM_024422.6(DSC2):c.2126-4C>A
|
rs2144788686
|
|
|
NM_024422.6(DSC2):c.2126-6C>T
|
|
|
|
NM_024422.6(DSC2):c.2136del (p.Phe712fs)
|
|
|
|
NM_024422.6(DSC2):c.2136dup (p.Thr713fs)
|
rs2144788632
|
|
|
NM_024422.6(DSC2):c.2138C>A (p.Thr713Lys)
|
rs180863872
|
|
|
NM_024422.6(DSC2):c.2142G>A (p.Leu714=)
|
|
|
|
NM_024422.6(DSC2):c.2147G>A (p.Cys716Tyr)
|
rs764008863
|
|
|
NM_024422.6(DSC2):c.2152del (p.Ala718fs)
|
rs760915248
|
|
|
NM_024422.6(DSC2):c.2160G>C (p.Gly720=)
|
rs2144788466
|
|
|
NM_024422.6(DSC2):c.2162C>A (p.Thr721Lys)
|
rs759513934
|
|
|
NM_024422.6(DSC2):c.216A>C (p.Gln72His)
|
rs767293228
|
|
|
NM_024422.6(DSC2):c.216A>G (p.Gln72=)
|
rs767293228
|
|
|
NM_024422.6(DSC2):c.2175A>G (p.Pro725=)
|
|
|
|
NM_024422.6(DSC2):c.2185C>A (p.Pro729Thr)
|
rs1422818892
|
|
|
NM_024422.6(DSC2):c.2186del (p.Pro729fs)
|
rs1598572298
|
|
|
NM_024422.6(DSC2):c.2194T>C (p.Leu732=)
|
|
|
|
NM_024422.6(DSC2):c.2198C>T (p.Ala733Val)
|
rs886053695
|
|
|
NM_024422.6(DSC2):c.2199C>T (p.Ala733=)
|
|
|
|
NM_024422.6(DSC2):c.2200C>T (p.Gln734Ter)
|
rs769022411
|
|
|
NM_024422.6(DSC2):c.2201A>G (p.Gln734Arg)
|
|
|
|
NM_024422.6(DSC2):c.2203C>T (p.Gln735Ter)
|
|
|
|
NM_024422.6(DSC2):c.2205G>T (p.Gln735His)
|
rs886053694
|
|
|
NM_024422.6(DSC2):c.2217A>G (p.Val739=)
|
|
|
|
NM_024422.6(DSC2):c.2217A>T (p.Val739=)
|
|
|
|
NM_024422.6(DSC2):c.2218T>C (p.Ser740Pro)
|
rs1555637438
|
|
|
NM_024422.6(DSC2):c.2229A>C (p.Glu743Asp)
|
rs1380094242
|
|
|
NM_024422.6(DSC2):c.222G>T (p.Leu74Phe)
|
rs2144846839
|
|
|
NM_024422.6(DSC2):c.2234C>T (p.Pro745Leu)
|
rs2144788073
|
|
|
NM_024422.6(DSC2):c.2236G>A (p.Gly746Arg)
|
rs1986795375
|
|
|
NM_024422.6(DSC2):c.2248G>A (p.Val750Met)
|
rs753775769
|
|
|
NM_024422.6(DSC2):c.2250+14C>T
|
|
|
|
NM_024422.6(DSC2):c.2250+1G>C
|
rs1986794200
|
|
|
NM_024422.6(DSC2):c.2250+2T>C
|
rs1064793731
|
|
|
NM_024422.6(DSC2):c.2250+3A>G
|
rs1555637433
|
|
|
NM_024422.6(DSC2):c.2251-19C>T
|
|
|
|
NM_024422.6(DSC2):c.2251-3C>T
|
rs2144784605
|
|
|
NM_024422.6(DSC2):c.2251-4T>C
|
rs2144784611
|
|
|
NM_024422.6(DSC2):c.2251T>C (p.Tyr751His)
|
|
|
|
NM_024422.6(DSC2):c.2262T>C (p.Asn754=)
|
rs2144784514
|
|
|
NM_024422.6(DSC2):c.2265C>T (p.Gly755=)
|
|
|
|
NM_024422.6(DSC2):c.2271A>G (p.Thr757=)
|
rs2144784473
|
|
|
NM_024422.6(DSC2):c.2276A>C (p.Gln759Pro)
|
|
|
|
NM_024422.6(DSC2):c.2279C>G (p.Thr760Ser)
|
rs1331111206
|
|
|
NM_024422.6(DSC2):c.2286C>T (p.Gly762=)
|
rs549251334
|
|
|
NM_024422.6(DSC2):c.2288C>T (p.Ala763Val)
|
rs1986739683
|
|
|
NM_024422.6(DSC2):c.2289T>A (p.Ala763=)
|
|
|
|
NM_024422.6(DSC2):c.2289T>C (p.Ala763=)
|
rs1986739564
|
|
|
NM_024422.6(DSC2):c.229G>A (p.Gly77Ser)
|
|
|
|
NM_024422.6(DSC2):c.22G>A (p.Gly8Ser)
|
rs1555641325
|
|
|
NM_024422.6(DSC2):c.2304T>C (p.Val768=)
|
|
|
|
NM_024422.6(DSC2):c.2307T>A (p.Cys769Ter)
|
|
|
|
NM_024422.6(DSC2):c.2309G>A (p.Gly770Asp)
|
|
|
|
NM_024422.6(DSC2):c.230G>T (p.Gly77Val)
|
rs761544006
|
|
|
NM_024422.6(DSC2):c.2319A>T (p.Gly773=)
|
rs1986736902
|
|
|
NM_024422.6(DSC2):c.2344G>A (p.Glu782Lys)
|
rs866805043
|
|
|
NM_024422.6(DSC2):c.2347A>G (p.Thr783Ala)
|
|
|
|
NM_024422.6(DSC2):c.2352C>T (p.Ile784=)
|
rs562571453
|
|
|
NM_024422.6(DSC2):c.2359G>A (p.Val787Met)
|
rs1789053
|
|
|
NM_024422.6(DSC2):c.2363A>C (p.Lys788Thr)
|
rs1430547540
|
|
|
NM_024422.6(DSC2):c.2365GGA[1] (p.Gly790del)
|
rs377272752
|
|
|
NM_024422.6(DSC2):c.2367A>T (p.Gly789=)
|
rs886053693
|
|
|
NM_024422.6(DSC2):c.2369G>A (p.Gly790Glu)
|
rs1555637241
|
|
|
NM_024422.6(DSC2):c.2373C>T (p.His791=)
|
|
|
|
NM_024422.6(DSC2):c.2375A>G (p.Gln792Arg)
|
|
|
|
NM_024422.6(DSC2):c.2377A>G (p.Thr793Ala)
|
|
|
|
NM_024422.6(DSC2):c.2379del (p.Ser794fs)
|
rs2144783901
|
|
|
NM_024422.6(DSC2):c.2382G>C (p.Ser794=)
|
rs761322462
|
|
|
NM_024422.6(DSC2):c.2383G>A (p.Glu795Lys)
|
|
|
|
NM_024422.6(DSC2):c.2384_2385inv (p.Glu795Val)
|
|
|
|
NM_024422.6(DSC2):c.2393G>A (p.Arg798Gln)
|
rs61731921
|
|
|
NM_024422.6(DSC2):c.2393G>T (p.Arg798Leu)
|
rs61731921
|
|
|
NM_024422.6(DSC2):c.2394G>A (p.Arg798=)
|
rs1986729754
|
|
|
NM_024422.6(DSC2):c.2398G>T (p.Ala800Ser)
|
rs565136635
|
|
|
NM_024422.6(DSC2):c.2398del (p.Ala800fs)
|
rs397517399
|
|
|
NM_024422.6(DSC2):c.2402G>A (p.Gly801Asp)
|
rs1215462499
|
|
|
NM_024422.6(DSC2):c.2406C>T (p.His802=)
|
|
|
|
NM_024422.6(DSC2):c.2408A>C (p.His803Pro)
|
|
|
|
NM_024422.6(DSC2):c.240T>C (p.Tyr80=)
|
|
|
|
NM_024422.6(DSC2):c.2412C>A (p.His804Gln)
|
rs1986728077
|
|
|
NM_024422.6(DSC2):c.2437C>T (p.His813Tyr)
|
rs1402474064
|
|
|
NM_024422.6(DSC2):c.2438A>C (p.His813Pro)
|
rs766881629
|
|
|
NM_024422.6(DSC2):c.2440A>T (p.Thr814Ser)
|
|
|
|
NM_024422.6(DSC2):c.2442G>C (p.Thr814=)
|
rs750971227
|
|
|
NM_024422.6(DSC2):c.2444A>G (p.Glu815Gly)
|
rs1473364512
|
|
|
NM_024422.6(DSC2):c.2451C>A (p.Asp817Glu)
|
rs762214540
|
|
|
NM_024422.6(DSC2):c.2456G>A (p.Cys819Tyr)
|
rs773961399
|
|
|
NM_024422.6(DSC2):c.2462A>G (p.Tyr821Cys)
|
rs762627642
|
|
|
NM_024422.6(DSC2):c.2463C>A (p.Tyr821Ter)
|
rs1567971476
|
|
|
NM_024422.6(DSC2):c.2469C>T (p.Tyr823=)
|
rs1393087393
|
|
|
NM_024422.6(DSC2):c.2477G>A (p.Trp826Ter)
|
|
|
|
NM_024422.6(DSC2):c.2484T>C (p.Ser828=)
|
|
|
|
NM_024422.6(DSC2):c.2487del (p.Phe829fs)
|
rs794728073
|
|
|
NM_024422.6(DSC2):c.2497C>G (p.Arg833Gly)
|
rs142410803
|
|
|
NM_024422.6(DSC2):c.2499T>A (p.Arg833=)
|
|
|
|
NM_024422.6(DSC2):c.2502T>C (p.Leu834=)
|
rs1598570166
|
|
|
NM_024422.6(DSC2):c.2505T>G (p.Gly835=)
|
|
|
|
NM_024422.6(DSC2):c.2508+15G>A
|
|
|
|
NM_024422.6(DSC2):c.2508+17G>A
|
|
|
|
NM_024422.6(DSC2):c.2508+19C>A
|
|
|
|
NM_024422.6(DSC2):c.2508+20C>T
|
|
|
|
NM_024422.6(DSC2):c.2508+6T>C
|
|
|
|
NM_024422.6(DSC2):c.2509-11C>G
|
rs1353395919
|
|
|
NM_024422.6(DSC2):c.2509-15T>A
|
rs2144781524
|
|
|
NM_024422.6(DSC2):c.2509-19G>A
|
|
|
|
NM_024422.6(DSC2):c.2509-20_2509-18del
|
|
|
|
NM_024422.6(DSC2):c.2509-4G>A
|
|
|
|
NM_024422.6(DSC2):c.2514G>A (p.Val838=)
|
|
|
|
NM_024422.6(DSC2):c.2516A>G (p.Tyr839Cys)
|
rs2144781456
|
|
|
NM_024422.6(DSC2):c.2522G>A (p.Cys841Tyr)
|
rs2144781440
|
|
|
NM_024422.6(DSC2):c.2529A>C (p.Gln843His)
|
rs2144781418
|
|
|
NM_024422.6(DSC2):c.2541C>T (p.His847=)
|
rs1598569474
|
|
|
NM_024422.6(DSC2):c.2548delinsTT (p.Ala850fs)
|
rs794728077
|
|
|
NM_024422.6(DSC2):c.254T>C (p.Ile85Thr)
|
|
|
|
NM_024422.6(DSC2):c.2559T>C (p.Tyr853=)
|
|
|
|
NM_024422.6(DSC2):c.255T>A (p.Ile85=)
|
rs970871881
|
|
|
NM_024422.6(DSC2):c.255T>C (p.Ile85=)
|
|
|
|
NM_024422.6(DSC2):c.2562C>T (p.Val854=)
|
rs1207984278
|
|
|
NM_024422.6(DSC2):c.2568A>G (p.Thr856=)
|
rs1986693059
|
|
|
NM_024422.6(DSC2):c.2570_2573dup (p.Asn858delinsLysTer)
|
|
|
|
NM_024422.6(DSC2):c.2570_2574del (p.Tyr857fs)
|
rs2144781196
|
|
|
NM_024422.6(DSC2):c.2581G>A (p.Gly861Arg)
|
rs1114167344
|
|
|
NM_024422.6(DSC2):c.2582_2585dup (p.Gly863fs)
|
rs780970079
|
|
|
NM_024422.6(DSC2):c.2583_2587dup (p.Gly863fs)
|
rs1986691422
|
|
|
NM_024422.6(DSC2):c.2589A>T (p.Gly863=)
|
|
|
|
NM_024422.6(DSC2):c.2597C>T (p.Ala866Val)
|
rs760363798
|
|
|
NM_024422.6(DSC2):c.2597_2600del (p.Ala866fs)
|
rs2144781031
|
|
|
NM_024422.6(DSC2):c.2606T>G (p.Val869Gly)
|
|
|
|
NM_024422.6(DSC2):c.2608G>T (p.Gly870Cys)
|
rs1986689119
|
|
|
NM_024422.6(DSC2):c.2609G>A (p.Gly870Asp)
|
|
|
|
NM_024422.6(DSC2):c.2624G>T (p.Arg875Leu)
|
|
|
|
NM_024422.6(DSC2):c.2625A>G (p.Arg875=)
|
|
|
|
NM_024422.6(DSC2):c.2627A>T (p.Gln876Leu)
|
rs1004351611
|
|
|
NM_024422.6(DSC2):c.2628A>G (p.Gln876=)
|
|
|
|
NM_024422.6(DSC2):c.2638G>A (p.Gly880Arg)
|
rs1986686862
|
|
|
NM_024422.6(DSC2):c.2639G>A (p.Gly880Glu)
|
|
|
|
NM_024422.6(DSC2):c.2640G>A (p.Gly880=)
|
rs2144780787
|
|
|
NM_024422.6(DSC2):c.2644G>A (p.Glu882Lys)
|
rs1352394486
|
|
|
NM_024422.6(DSC2):c.2646A>G (p.Glu882=)
|
rs773604134
|
|
|
NM_024422.6(DSC2):c.264C>T (p.Ser88=)
|
rs1435506924
|
|
|
NM_024422.6(DSC2):c.2664G>C (p.Glu888Asp)
|
rs748675400
|
|
|
NM_024422.6(DSC2):c.2666C>A (p.Pro889His)
|
rs2144780689
|
|
|
NM_024422.6(DSC2):c.2683G>A (p.Ala895Thr)
|
rs1060502988
|
|
|
NM_024422.6(DSC2):c.2684C>G (p.Ala895Gly)
|
rs1986685195
|
|
|
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs)
|
rs200056085
|
|
|
NM_024422.6(DSC2):c.268G>T (p.Glu90Ter)
|
rs1987624232
|
|
|
NM_024422.6(DSC2):c.2693G>T (p.Cys898Phe)
|
|
|
|
NM_024422.6(DSC2):c.2695A>T (p.Met899Leu)
|
|
|
|
NM_024422.6(DSC2):c.2705G>T (p.Ter902Leu)
|
rs1986683368
|
|
|
NM_024422.6(DSC2):c.286A>T (p.Ile96Leu)
|
|
|
|
NM_024422.6(DSC2):c.288A>T (p.Ile96=)
|
|
|
|
NM_024422.6(DSC2):c.28T>C (p.Trp10Arg)
|
rs1987977039
|
|
|
NM_024422.6(DSC2):c.296C>A (p.Ser99Tyr)
|
|
|
|
NM_024422.6(DSC2):c.296C>T (p.Ser99Phe)
|
|
|
|
NM_024422.6(DSC2):c.2T>G (p.Met1Arg)
|
|
|
|
NM_024422.6(DSC2):c.301A>G (p.Thr101Ala)
|
rs1372970572
|
|
|
NM_024422.6(DSC2):c.309C>A (p.Asn103Lys)
|
rs1484070582
|
|
|
NM_024422.6(DSC2):c.30G>A (p.Trp10Ter)
|
rs1555641322
|
|
|
NM_024422.6(DSC2):c.311A>T (p.Gln104Leu)
|
rs1987621652
|
|
|
NM_024422.6(DSC2):c.318G>T (p.Lys106Asn)
|
|
|
|
NM_024422.6(DSC2):c.324A>T (p.Lys108Asn)
|
|
|
|
NM_024422.6(DSC2):c.328T>C (p.Phe110Leu)
|
|
|
|
NM_024422.6(DSC2):c.332T>G (p.Val111Gly)
|
|
|
|
NM_024422.6(DSC2):c.337T>C (p.Leu113=)
|
rs2144846288
|
|
|
NM_024422.6(DSC2):c.33C>T (p.Asn11=)
|
rs1987976628
|
|
|
NM_024422.6(DSC2):c.342G>A (p.Glu114=)
|
rs1598591230
|
|
|
NM_024422.6(DSC2):c.346C>G (p.Gln116Glu)
|
rs1987619959
|
|
|
NM_024422.6(DSC2):c.347A>C (p.Gln116Pro)
|
|
|
|
NM_024422.6(DSC2):c.34G>C (p.Gly12Arg)
|
rs568391206
|
|
|
NM_024422.6(DSC2):c.354+10G>C
|
rs1987618587
|
|
|
NM_024422.6(DSC2):c.354+12T>A
|
|
|
|
NM_024422.6(DSC2):c.354+15A>C
|
rs1303672773
|
|
|
NM_024422.6(DSC2):c.354+16T>C
|
|
|
|
NM_024422.6(DSC2):c.354+7A>T
|
|
|
|
NM_024422.6(DSC2):c.354+9G>C
|
rs1397580089
|
|
|
NM_024422.6(DSC2):c.355-10A>C
|
|
|
|
NM_024422.6(DSC2):c.355-10A>G
|
|
|
|
NM_024422.6(DSC2):c.355-12T>C
|
rs1987585083
|
|
|
NM_024422.6(DSC2):c.355-18C>T
|
rs1159494088
|
|
|
NM_024422.6(DSC2):c.355-1G>A
|
rs2144843645
|
|
|
NM_024422.6(DSC2):c.355-9T>A
|
|
|
|
NM_024422.6(DSC2):c.355-9T>C
|
rs925436741
|
|
|
NM_024422.6(DSC2):c.355G>A (p.Val119Ile)
|
rs2144843633
|
|
|
NM_024422.6(DSC2):c.357C>T (p.Val119=)
|
rs1452043194
|
|
|
NM_024422.6(DSC2):c.369A>G (p.Arg123=)
|
|
|
|
NM_024422.6(DSC2):c.370C>T (p.His124Tyr)
|
rs371443698
|
|
|
NM_024422.6(DSC2):c.371A>G (p.His124Arg)
|
rs794728061
|
|
|
NM_024422.6(DSC2):c.372T>C (p.His124=)
|
|
|
|
NM_024422.6(DSC2):c.378A>C (p.Lys126Asn)
|
|
|
|
NM_024422.6(DSC2):c.381A>G (p.Glu127=)
|
|
|
|
NM_024422.6(DSC2):c.38C>T (p.Ala13Val)
|
rs1404155315
|
|
|
NM_024422.6(DSC2):c.393G>A (p.Arg131=)
|
|
|
|
NM_024422.6(DSC2):c.397G>C (p.Ala133Pro)
|
rs200218585
|
|
|
NM_024422.6(DSC2):c.401A>G (p.Lys134Arg)
|
|
|
|
NM_024422.6(DSC2):c.413C>T (p.Ala138Val)
|
|
|
|
NM_024422.6(DSC2):c.428C>G (p.Ser143Trp)
|
|
|
|
NM_024422.6(DSC2):c.428C>T (p.Ser143Leu)
|
rs769576778
|
|
|
NM_024422.6(DSC2):c.429G>C (p.Ser143=)
|
rs542638302
|
|
|
NM_024422.6(DSC2):c.441C>T (p.Asn147=)
|
rs2144843142
|
|
|
NM_024422.6(DSC2):c.443C>G (p.Ser148Cys)
|
|
|
|
NM_024422.6(DSC2):c.448G>T (p.Gly150Cys)
|
|
|
|
NM_024422.6(DSC2):c.453T>C (p.Pro151=)
|
|
|
|
NM_024422.6(DSC2):c.466C>T (p.Leu156Phe)
|
rs2144843013
|
|
|
NM_024422.6(DSC2):c.46C>G (p.Arg16Gly)
|
|
|
|
NM_024422.6(DSC2):c.471A>G (p.Gln157=)
|
rs1367783973
|
|
|
NM_024422.6(DSC2):c.474+1G>T
|
rs2144842978
|
|
|
NM_024422.6(DSC2):c.474+2T>A
|
rs1430478589
|
|
|
NM_024422.6(DSC2):c.474+5C>G
|
|
|
|
NM_024422.6(DSC2):c.475-13A>G
|
rs751631188
|
|
|
NM_024422.6(DSC2):c.475-5T>C
|
rs1555639919
|
|
|
NM_024422.6(DSC2):c.47G>C (p.Arg16Pro)
|
rs869025386
|
|
|
NM_024422.6(DSC2):c.488C>A (p.Thr163Lys)
|
rs758759298
|
|
|
NM_024422.6(DSC2):c.500A>C (p.Tyr167Ser)
|
rs1987523408
|
|
|
NM_024422.6(DSC2):c.501_502dup (p.Thr168fs)
|
rs2144839173
|
|
|
NM_024422.6(DSC2):c.503C>G (p.Thr168Ser)
|
|
|
|
NM_024422.6(DSC2):c.517A>G (p.Ile173Val)
|
rs766855728
|
|
|
NM_024422.6(DSC2):c.525T>A (p.Gly175=)
|
|
|
|
NM_024422.6(DSC2):c.525T>C (p.Gly175=)
|
rs541223771
|
|
|
NM_024422.6(DSC2):c.530G>C (p.Gly177Ala)
|
|
|
|
NM_024422.6(DSC2):c.545C>T (p.Pro182Leu)
|
|
|
|
NM_024422.6(DSC2):c.548G>A (p.Arg183Gln)
|
rs554713834
|
|
|
NM_024422.6(DSC2):c.549G>A (p.Arg183=)
|
|
|
|
NM_024422.6(DSC2):c.549G>C (p.Arg183=)
|
rs774025474
|
|
|
NM_024422.6(DSC2):c.555A>G (p.Leu185=)
|
rs768367488
|
|
|
NM_024422.6(DSC2):c.559T>C (p.Tyr187His)
|
rs1251921612
|
|
|
NM_024422.6(DSC2):c.562G>A (p.Val188Met)
|
|
|
|
NM_024422.6(DSC2):c.574A>C (p.Thr192Pro)
|
rs876657789
|
|
|
NM_024422.6(DSC2):c.575C>T (p.Thr192Ile)
|
rs2144838831
|
|
|
NM_024422.6(DSC2):c.577_624del (p.Gly193_Ser208del)
|
rs767081975
|
|
|
NM_024422.6(DSC2):c.584T>C (p.Leu195Ser)
|
rs876657787
|
|
|
NM_024422.6(DSC2):c.585G>C (p.Leu195Phe)
|
rs912124448
|
|
|
NM_024422.6(DSC2):c.588T>C (p.Tyr196=)
|
rs1987518239
|
|
|
NM_024422.6(DSC2):c.590G>T (p.Cys197Phe)
|
rs2144838763
|
|
|
NM_024422.6(DSC2):c.607C>T (p.Arg203Cys)
|
rs142331975
|
|
|
NM_024422.6(DSC2):c.610G>A (p.Glu204Lys)
|
|
|
|
NM_024422.6(DSC2):c.619G>A (p.Glu207Lys)
|
rs200634448
|
|
|
NM_024422.6(DSC2):c.621A>C (p.Glu207Asp)
|
rs2144838603
|
|
|
NM_024422.6(DSC2):c.621A>G (p.Glu207=)
|
|
|
|
NM_024422.6(DSC2):c.629A>C (p.Glu210Ala)
|
|
|
|
NM_024422.6(DSC2):c.62C>T (p.Thr21Ile)
|
|
|
|
NM_024422.6(DSC2):c.630+10A>G
|
rs2144838541
|
|
|
NM_024422.6(DSC2):c.630+12A>G
|
|
|
|
NM_024422.6(DSC2):c.630+13del
|
rs763577727
|
|
|
NM_024422.6(DSC2):c.630+19G>T
|
rs750910749
|
|
|
NM_024422.6(DSC2):c.630+8C>A
|
rs201147144
|
|
|
NM_024422.6(DSC2):c.631-10C>G
|
rs745848441
|
|
|
NM_024422.6(DSC2):c.631-10C>T
|
|
|
|
NM_024422.6(DSC2):c.634A>G (p.Ile212Val)
|
|
|
|
NM_024422.6(DSC2):c.635T>C (p.Ile212Thr)
|
rs1598587612
|
|
|
NM_024422.6(DSC2):c.637G>A (p.Ala213Thr)
|
rs1987456031
|
|
|
NM_024422.6(DSC2):c.643G>A (p.Ala215Thr)
|
rs1435574320
|
|
|
NM_024422.6(DSC2):c.647C>T (p.Thr216Ile)
|
rs780448272
|
|
|
NM_024422.6(DSC2):c.648A>C (p.Thr216=)
|
|
|
|
NM_024422.6(DSC2):c.656A>T (p.Asp219Val)
|
rs1047981208
|
|
|
NM_024422.6(DSC2):c.660G>T (p.Gly220=)
|
|
|
|
NM_024422.6(DSC2):c.665C>T (p.Thr222Ile)
|
rs1987453864
|
|
|
NM_024422.6(DSC2):c.667C>T (p.Pro223Ser)
|
rs762722282
|
|
|
NM_024422.6(DSC2):c.66C>T (p.Leu22=)
|
rs1987974460
|
|
|
NM_024422.6(DSC2):c.684C>A (p.Pro228=)
|
rs2144833912
|
|
|
NM_024422.6(DSC2):c.685del (p.Pro228_Leu229insTer)
|
rs1209546374
|
|
|
NM_024422.6(DSC2):c.686del (p.Leu229fs)
|
|
|
|
NM_024422.6(DSC2):c.69+12C>A
|
rs1326854054
|
|
|
NM_024422.6(DSC2):c.69+15G>C
|
|
|
|
NM_024422.6(DSC2):c.69+2T>C
|
rs1987974114
|
|
|
NM_024422.6(DSC2):c.69+2T>G
|
rs1987974114
|
|
|
NM_024422.6(DSC2):c.69+5G>A
|
|
|
|
NM_024422.6(DSC2):c.69+7G>A
|
rs544403465
|
|
|
NM_024422.6(DSC2):c.69+9A>T
|
|
|
|
NM_024422.6(DSC2):c.693C>A (p.Ile231=)
|
rs776727405
|
|
|
NM_024422.6(DSC2):c.70-11del
|
rs572309510
|
|
|
NM_024422.6(DSC2):c.70-18dup
|
rs572309510
|
|
|
NM_024422.6(DSC2):c.70-20G>A
|
rs374486794
|
|
|
NM_024422.6(DSC2):c.70-8dup
|
rs1048960125
|
|
|
NM_024422.6(DSC2):c.702G>A (p.Glu234=)
|
rs397517402
|
|
|
NM_024422.6(DSC2):c.70A>T (p.Ile24Phe)
|
|
|
|
NM_024422.6(DSC2):c.713A>G (p.Asp238Gly)
|
rs2144833773
|
|
|
NM_024422.6(DSC2):c.715A>G (p.Asn239Asp)
|
rs774551962
|
|
|
NM_024422.6(DSC2):c.719A>G (p.Tyr240Cys)
|
|
|
|
NM_024422.6(DSC2):c.721C>G (p.Pro241Ala)
|
rs727505169
|
|
|
NM_024422.6(DSC2):c.721C>T (p.Pro241Ser)
|
rs727505169
|
|
|
NM_024422.6(DSC2):c.729del (p.Phe243fs)
|
rs2144833653
|
|
|
NM_024422.6(DSC2):c.72C>A (p.Ile24=)
|
rs757826575
|
|
|
NM_024422.6(DSC2):c.734A>G (p.Glu245Gly)
|
rs373201722
|
|
|
NM_024422.6(DSC2):c.739A>G (p.Thr247Ala)
|
rs1567980622
|
|
|
NM_024422.6(DSC2):c.741T>C (p.Thr247=)
|
rs1555639671
|
|
|
NM_024422.6(DSC2):c.741T>G (p.Thr247=)
|
rs1555639671
|
|
|
NM_024422.6(DSC2):c.743_748del (p.Tyr248_Thr249del)
|
rs776784065
|
|
|
NM_024422.6(DSC2):c.744T>C (p.Tyr248=)
|
rs756495155
|
|
|
NM_024422.6(DSC2):c.744_746delinsCAA (p.Thr249Asn)
|
rs1987447561
|
|
|
NM_024422.6(DSC2):c.748T>A (p.Phe250Ile)
|
|
|
|
NM_024422.6(DSC2):c.748T>G (p.Phe250Val)
|
rs111556656
|
|
|
NM_024422.6(DSC2):c.749T>C (p.Phe250Ser)
|
rs746173561
|
|
|
NM_024422.6(DSC2):c.752C>A (p.Thr251Lys)
|
rs1987446781
|
|
|
NM_024422.6(DSC2):c.754A>G (p.Ile252Val)
|
rs751996698
|
|
|
NM_024422.6(DSC2):c.76A>G (p.Ile26Val)
|
|
|
|
NM_024422.6(DSC2):c.772G>A (p.Val258Met)
|
rs1060502992
|
|
|
NM_024422.6(DSC2):c.774G>C (p.Val258=)
|
|
|
|
NM_024422.6(DSC2):c.775+11C>A
|
|
|
|
NM_024422.6(DSC2):c.775+18C>T
|
|
|
|
NM_024422.6(DSC2):c.775+3_775+6del
|
|
|
|
NM_024422.6(DSC2):c.776-13dup
|
rs1987414584
|
|
|
NM_024422.6(DSC2):c.776-3T>C
|
rs752192642
|
|
|
NM_024422.6(DSC2):c.776-5T>C
|
|
|
|
NM_024422.6(DSC2):c.776G>A (p.Gly259Asp)
|
rs1335645459
|
|
|
NM_024422.6(DSC2):c.779C>G (p.Thr260Ser)
|
|
|
|
NM_024422.6(DSC2):c.779C>T (p.Thr260Ile)
|
|
|
|
NM_024422.6(DSC2):c.77del (p.Ile26fs)
|
rs1555640399
|
|
|
NM_024422.6(DSC2):c.782C>T (p.Thr261Ile)
|
|
|
|
NM_024422.6(DSC2):c.799G>C (p.Ala267Pro)
|
rs966660258
|
|
|
NM_024422.6(DSC2):c.802A>C (p.Thr268Pro)
|
rs201015785
|
|
|
NM_024422.6(DSC2):c.807C>T (p.Asp269=)
|
|
|
|
NM_024422.6(DSC2):c.811G>A (p.Asp271Asn)
|
|
|
|
NM_024422.6(DSC2):c.812A>T (p.Asp271Val)
|
rs1987412406
|
|
|
NM_024422.6(DSC2):c.813T>A (p.Asp271Glu)
|
|
|
|
NM_024422.6(DSC2):c.826A>G (p.Met276Val)
|
|
|
|
NM_024422.6(DSC2):c.832A>G (p.Thr278Ala)
|
|
|
|
NM_024422.6(DSC2):c.834A>G (p.Thr278=)
|
rs2144830763
|
|
|
NM_024422.6(DSC2):c.841A>C (p.Lys281Gln)
|
rs373697870
|
|
|
NM_024422.6(DSC2):c.844T>C (p.Tyr282His)
|
rs397517405
|
|
|
NM_024422.6(DSC2):c.846C>G (p.Tyr282Ter)
|
rs397517406
|
|
|
NM_024422.6(DSC2):c.847T>C (p.Ser283Pro)
|
|
|
|
NM_024422.6(DSC2):c.848C>G (p.Ser283Cys)
|
rs2144830674
|
|
|
NM_024422.6(DSC2):c.853A>G (p.Ile285Val)
|
|
|
|
NM_024422.6(DSC2):c.858G>C (p.Gly286=)
|
|
|
|
NM_024422.6(DSC2):c.865C>G (p.Pro289Ala)
|
rs200802591
|
|
|
NM_024422.6(DSC2):c.869C>T (p.Pro290Leu)
|
|
|
|
NM_024422.6(DSC2):c.877A>G (p.Thr293Ala)
|
|
|
|
NM_024422.6(DSC2):c.879C>A (p.Thr293=)
|
rs1394417853
|
|
|
NM_024422.6(DSC2):c.880del (p.Leu294fs)
|
rs1451144520
|
|
|
NM_024422.6(DSC2):c.882A>G (p.Leu294=)
|
|
|
|
NM_024422.6(DSC2):c.882dup (p.Phe295fs)
|
rs1060502989
|
|
|
NM_024422.6(DSC2):c.906C>T (p.Gly302=)
|
rs776857618
|
|
|
NM_024422.6(DSC2):c.915C>T (p.Thr305=)
|
rs1429668963
|
|
|
NM_024422.6(DSC2):c.927T>C (p.Ser309=)
|
rs1434821927
|
|
|
NM_024422.6(DSC2):c.928C>G (p.Gln310Glu)
|
|
|
|
NM_024422.6(DSC2):c.929A>G (p.Gln310Arg)
|
|
|
|
NM_024422.6(DSC2):c.929delinsTT (p.Gln310fs)
|
|
|
|
NM_024422.6(DSC2):c.938G>A (p.Arg313Lys)
|
|
|
|
NM_024422.6(DSC2):c.940G>A (p.Glu314Lys)
|
|
|
|
NM_024422.6(DSC2):c.942+11C>A
|
|
|
|
NM_024422.6(DSC2):c.942+11_942+13dup
|
|
|
|
NM_024422.6(DSC2):c.942+13_942+15dup
|
rs5823783
|
|
|
NM_024422.6(DSC2):c.942+14_942+15insTTG
|
rs2144830055
|
|
|
NM_024422.6(DSC2):c.942+21A>T
|
|
|
|
NM_024422.6(DSC2):c.942+23C>A
|
|
|
|
NM_024422.6(DSC2):c.942+5C>T
|
rs2144830111
|
|
|
NM_024422.6(DSC2):c.942+8A>C
|
rs1475176981
|
|
|
NM_024422.6(DSC2):c.942+9A>G
|
|
|
|
NM_024422.6(DSC2):c.943-17T>A
|
|
|
|
NM_024422.6(DSC2):c.943-3C>T
|
|
|
|
NM_024422.6(DSC2):c.943-9dup
|
rs1987283946
|
|
|
NM_024422.6(DSC2):c.943T>C (p.Leu315=)
|
rs2144821693
|
|
|
NM_024422.6(DSC2):c.945A>G (p.Leu315=)
|
rs971660963
|
|
|
NM_024422.6(DSC2):c.946A>T (p.Ile316Phe)
|
rs1233598092
|
|
|
NM_024422.6(DSC2):c.959A>C (p.Gln320Pro)
|
rs1481724064
|
|
|
NM_024422.6(DSC2):c.96del (p.Ala31_Cys32insTer)
|
rs397517408
|
|
|
NM_024422.6(DSC2):c.973G>A (p.Val325Ile)
|
|
|
|
NM_024422.6(DSC2):c.975A>C (p.Val325=)
|
|
|
|
NM_024422.6(DSC2):c.978A>G (p.Gln326=)
|
rs1598583853
|
|
|
NM_024422.6(DSC2):c.983T>A (p.Met328Lys)
|
rs1987280810
|
|
|
NM_024422.6(DSC2):c.986A>G (p.Asp329Gly)
|
|
|
|
NM_024422.6(DSC2):c.990T>G (p.Gly330=)
|
rs1396481707
|
|
|
NM_024422.6(DSC2):c.991C>T (p.Gln331Ter)
|
|
|
|
NM_024422.6(DSC2):c.996T>G (p.Tyr332Ter)
|
rs1555639134
|
|
|
NM_133378.4(TTN):c.37385_37387delAAG
|
rs759525338
|
|
|
NM_133379.5(TTN):c.11794G>T (p.Glu3932Ter)
|
rs869025543
|
|
|
NM_144573.4(NEXN):c.1401AGA[2] (p.Glu470del)
|
rs397517846
|
|
|
NM_170707.4(LMNA):c.1073A>G (p.Glu358Gly)
|
rs1114167345
|
|
|
NM_170707.4(LMNA):c.234G>T (p.Lys78Asn)
|
rs727505038
|
|
|
NM_174934.4(SCN4B):c.592_593+1del
|
rs587782976
|
|
|
NM_178011.5(LRRTM3):c.311C>T (p.Ala104Val)
|
rs1589435465
|
|
|
NM_201384.3(PLEC):c.11617C>G (p.Leu3873Val)
|
rs782207321
|
|
|
NM_201384.3(PLEC):c.2354C>G (p.Ala785Gly)
|
rs781932151
|
|