NM_000363.5(TNNI3):c.373-10=
|
rs7252610
|
0.99999
|
NM_006206.6(PDGFRA):c.3222T>C (p.Asp1074=)
|
rs7685117
|
0.99715
|
NM_006206.6(PDGFRA):c.*1511C>A
|
rs1565664
|
0.99713
|
NM_006206.6(PDGFRA):c.*78A>G
|
rs7680422
|
0.99696
|
NM_006206.6(PDGFRA):c.*2387T>G
|
rs10034498
|
0.98684
|
NM_032578.4(MYPN):c.2886T>C (p.Val962=)
|
rs10733838
|
0.98443
|
NM_032578.4(MYPN):c.2703+17T>C
|
rs6480306
|
0.98057
|
NM_006206.6(PDGFRA):c.1701A>G (p.Pro567=)
|
rs1873778
|
0.96449
|
NM_000157.4(GBA1):c.1225-34C>A
|
rs3115534
|
0.94932
|
NM_000203.5(IDUA):c.99T>G (p.His33Gln)
|
rs10794537
|
0.85085
|
NM_003283.6(TNNT1):c.-20A>G
|
rs9636153
|
0.84878
|
NM_001276345.2(TNNT2):c.163+120T>C
|
rs3729842
|
0.84150
|
NM_000152.5(GAA):c.2331+20G>A
|
rs2304832
|
0.80041
|
NM_001276345.2(TNNT2):c.601-32A>C
|
rs1104859
|
0.73965
|
NM_000152.5(GAA):c.2040+20A>G
|
rs2304836
|
0.72004
|
NM_000152.5(GAA):c.324T>C (p.Cys108=)
|
rs1800300
|
0.71989
|
NM_000152.5(GAA):c.2338G>A (p.Val780Ile)
|
rs1126690
|
0.71839
|
NM_000152.5(GAA):c.1327-18A>G
|
rs2278619
|
0.71811
|
NM_017950.4(CCDC40):c.3030T>C (p.Asp1010=)
|
rs12952612
|
0.71802
|
NM_001276345.2(TNNT2):c.348C>T (p.Ile116=)
|
rs3729547
|
0.69444
|
NM_000152.5(GAA):c.1551+49C>A
|
rs2304843
|
0.66585
|
NM_000203.5(IDUA):c.299+3990A>G
|
rs3822020
|
0.66105
|
NM_000152.5(GAA):c.547-39T>G
|
rs12452721
|
0.65696
|
NM_000152.5(GAA):c.547-67C>G
|
rs8069491
|
0.65691
|
NM_000152.5(GAA):c.596A>G (p.His199Arg)
|
rs1042393
|
0.65667
|
NM_000152.5(GAA):c.547-4C>G
|
rs3816256
|
0.65665
|
NM_000152.5(GAA):c.668G>A (p.Arg223His)
|
rs1042395
|
0.65662
|
NM_000152.5(GAA):c.1438-19G>C
|
rs2304844
|
0.65495
|
NM_000152.5(GAA):c.955+12G>A
|
rs2252455
|
0.65487
|
NM_000152.5(GAA):c.1203G>A (p.Gln401=)
|
rs1800304
|
0.65453
|
NM_000152.5(GAA):c.1438-108G>A
|
rs12944802
|
0.65436
|
NM_000152.5(GAA):c.858+30T>C
|
rs2304845
|
0.65092
|
NM_032578.4(MYPN):c.3286-28G>T
|
rs7079549
|
0.64847
|
NM_032578.4(MYPN):c.2565-21A>G
|
rs7097776
|
0.64504
|
NM_001100.4(ACTA1):c.-65T>C
|
rs605430
|
0.63378
|
NM_001100.4(ACTA1):c.-66C>T
|
rs605428
|
0.63361
|
NM_000152.5(GAA):c.1754+144C>T
|
rs2304838
|
0.60815
|
NM_000152.5(GAA):c.2553G>A (p.Gly851=)
|
rs1042397
|
0.57872
|
NM_032578.4(MYPN):c.1647T>C (p.Ser549=)
|
rs2673794
|
0.57747
|
NM_000152.5(GAA):c.1637-185A>G
|
rs12951255
|
0.55461
|
NM_017950.4(CCDC40):c.3417A>G (p.Pro1139=)
|
rs2304854
|
0.49481
|
NM_017950.4(CCDC40):c.*149T>C
|
rs2304852
|
0.48973
|
NM_032578.4(MYPN):c.3075+21G>A
|
rs7081213
|
0.41962
|
NM_000157.4(GBA1):c.454+47G>A
|
rs2075569
|
0.41024
|
NM_032578.4(MYPN):c.3403C>A (p.Pro1135Thr)
|
rs7079481
|
0.40619
|
NM_032578.4(MYPN):c.1884C>G (p.Phe628Leu)
|
rs10823148
|
0.39447
|
NM_032578.4(MYPN):c.2072G>A (p.Ser691Asn)
|
rs10997975
|
0.39270
|
NM_032578.4(MYPN):c.2120G>A (p.Ser707Asn)
|
rs7916821
|
0.39079
|
NM_017950.4(CCDC40):c.*186A>C
|
rs2304851
|
0.38175
|
NM_001256715.2(DNAAF3):c.1239-8A>G
|
rs28377509
|
0.36480
|
NM_017950.4(CCDC40):c.*15T>C
|
rs2304853
|
0.35502
|
NM_017950.4(CCDC40):c.3210A>G (p.Thr1070=)
|
rs56407805
|
0.35335
|
NM_000363.5(TNNI3):c.25-8T>A
|
rs3729836
|
0.35138
|
NM_001256715.2(DNAAF3):c.1056G>A (p.Pro352=)
|
rs891187
|
0.29351
|
NM_001256715.2(DNAAF3):c.666T>C (p.Ala222=)
|
rs7260320
|
0.27290
|
NM_001100.4(ACTA1):c.130-5T>C
|
rs11803533
|
0.26938
|
NM_032578.4(MYPN):c.1130+17G>A
|
rs2817760
|
0.26147
|
NM_001256715.2(DNAAF3):c.875A>G (p.Glu292Gly)
|
rs2365725
|
0.24847
|
NM_001256715.2(DNAAF3):c.790-14C>T
|
rs7260371
|
0.24759
|
NM_000152.5(GAA):c.2133A>G (p.Thr711=)
|
rs1800310
|
0.23591
|
NM_000203.5(IDUA):c.352C>T (p.Leu118=)
|
rs3755954
|
0.22368
|
NM_000152.5(GAA):c.*223C>T
|
rs8132
|
0.22255
|
NM_001276345.2(TNNT2):c.811-122C>G
|
rs45509695
|
0.22049
|
NM_001276345.2(TNNT2):c.811-33C>T
|
rs2275863
|
0.22049
|
NM_001100.4(ACTA1):c.130-10G>C
|
rs41271481
|
0.20670
|
NM_006206.6(PDGFRA):c.2472C>T (p.Val824=)
|
rs2228230
|
0.20293
|
NM_000152.5(GAA):c.1581G>A (p.Arg527=)
|
rs1042396
|
0.20175
|
NM_000152.5(GAA):c.*419G>T
|
rs7567
|
0.19631
|
NM_005266.7(GJA5):c.-61A>G
|
rs11552588
|
0.18395
|
NM_006206.6(PDGFRA):c.612T>C (p.Asn204=)
|
rs2229307
|
0.17867
|
NM_006206.6(PDGFRA):c.939T>G (p.Gly313=)
|
rs4358459
|
0.17704
|
NM_006206.6(PDGFRA):c.1809G>A (p.Ala603=)
|
rs10028020
|
0.17498
|
NM_032578.4(MYPN):c.1875C>T (p.Pro625=)
|
rs2673793
|
0.17340
|
NM_000203.5(IDUA):c.1727+72T>G
|
rs2305488
|
0.17150
|
NM_000203.5(IDUA):c.1402+36T>C
|
rs115134980
|
0.17107
|
NM_000203.5(IDUA):c.972+48A>G
|
rs6811373
|
0.17097
|
NM_000203.5(IDUA):c.543T>C (p.Asn181=)
|
rs6815946
|
0.16952
|
NM_000152.5(GAA):c.-260G>C
|
rs2304849
|
0.16933
|
NM_000203.5(IDUA):c.1360G>A (p.Val454Ile)
|
rs73066479
|
0.16867
|
NM_000203.5(IDUA):c.1467C>T (p.Arg489=)
|
rs115929690
|
0.16835
|
NM_000203.5(IDUA):c.942G>C (p.Ala314=)
|
rs6830825
|
0.16834
|
NM_000203.5(IDUA):c.1081G>A (p.Ala361Thr)
|
rs6831280
|
0.16782
|
NM_000152.5(GAA):c.642C>T (p.Ser214=)
|
rs1800301
|
0.16610
|
NM_006206.6(PDGFRA):c.1432T>C (p.Ser478Pro)
|
rs35597368
|
0.15258
|
NM_000152.5(GAA):c.2331+24T>C
|
rs2304831
|
0.13841
|
NM_032578.4(MYPN):c.1869C>A (p.Thr623=)
|
rs61854624
|
0.12645
|
NM_000152.5(GAA):c.*91G>A
|
rs2229221
|
0.12196
|
NM_000152.5(GAA):c.921A>T (p.Ala307=)
|
rs1800303
|
0.11304
|
NM_032578.4(MYPN):c.1178T>C (p.Val393Ala)
|
rs11596653
|
0.11086
|
NM_000152.5(GAA):c.*139dup
|
rs865903736
|
0.10981
|
NM_032578.4(MYPN):c.1251G>A (p.Gln417=)
|
rs10997948
|
0.10147
|
NM_000152.5(GAA):c.1374C>T (p.Tyr458=)
|
rs1800305
|
0.10079
|
NM_000152.5(GAA):c.693-49C>T
|
rs78855075
|
0.09045
|
NM_032578.4(MYPN):c.1245+17G>A
|
rs2200897
|
0.09036
|
NM_001276345.2(TNNT2):c.237G>A (p.Ser79=)
|
rs3729845
|
0.08311
|
NM_000363.5(TNNI3):c.-35C>A
|
rs3729707
|
0.07367
|
NM_000363.5(TNNI3):c.150+13G>A
|
rs73617692
|
0.07353
|
NM_003283.6(TNNT1):c.35A>G (p.Glu12Gly)
|
rs112562759
|
0.06801
|
NM_000152.5(GAA):c.2040+66C>T
|
rs2304835
|
0.06422
|
NM_000152.5(GAA):c.1754+12G>A
|
rs2304840
|
0.06396
|
NM_006206.6(PDGFRA):c.*832T>C
|
rs12511976
|
0.06370
|
NM_000371.4(TTR):c.337-18G>C
|
rs36204272
|
0.06198
|
NM_001256715.2(DNAAF3):c.1164-14C>T
|
rs60176657
|
0.06188
|
NM_000152.5(GAA):c.2040+69A>G
|
rs2304834
|
0.06120
|
NM_001256715.2(DNAAF3):c.510A>G (p.Val170=)
|
rs56726774
|
0.06016
|
NM_001276345.2(TNNT2):c.788A>G (p.Lys263Arg)
|
rs3730238
|
0.05965
|
NM_000152.5(GAA):c.2446G>A (p.Val816Ile)
|
rs1800314
|
0.05752
|
NM_000152.5(GAA):c.1636+43G>T
|
rs2304842
|
0.05728
|
NM_001256715.2(DNAAF3):c.1001T>C (p.Leu334Pro)
|
rs890871
|
0.05642
|
NM_001256715.2(DNAAF3):c.327A>G (p.Arg109=)
|
rs3848618
|
0.05626
|
NM_001256715.2(DNAAF3):c.529G>A (p.Gly177Ser)
|
rs58824375
|
0.05620
|
NM_000152.5(GAA):c.*3G>A
|
rs1800317
|
0.05534
|
NM_000371.4(TTR):c.76G>A (p.Gly26Ser)
|
rs1800458
|
0.05309
|
NM_000152.5(GAA):c.1888+21G>A
|
rs2304837
|
0.05276
|
NM_000203.5(IDUA):c.891C>T (p.Asn297=)
|
rs114806891
|
0.04874
|
NM_000363.5(TNNI3):c.537G>A (p.Glu179=)
|
rs3729841
|
0.04860
|
NM_006206.6(PDGFRA):c.368-3C>T
|
rs55947416
|
0.04647
|
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile)
|
rs1800315
|
0.04402
|
NM_003283.6(TNNT1):c.33-8G>A
|
rs76630067
|
0.04332
|
NM_032578.4(MYPN):c.1399G>A (p.Glu467Lys)
|
rs74143030
|
0.04308
|
NM_032578.4(MYPN):c.2163C>A (p.Ala721=)
|
rs71584491
|
0.04239
|
NM_000152.5(GAA):c.1754+104C>G
|
rs2304839
|
0.04194
|
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys)
|
rs1800309
|
0.04051
|
NM_000363.5(TNNI3):c.204G>T (p.Arg68=)
|
rs3729711
|
0.04033
|
NM_000152.5(GAA):c.2189+95C>T
|
rs72850840
|
0.04030
|
NM_032578.4(MYPN):c.843A>G (p.Pro281=)
|
rs74143022
|
0.03534
|
NM_006206.6(PDGFRA):c.932-4A>G
|
rs78405886
|
0.03447
|
NM_000363.5(TNNI3):c.198G>A (p.Glu66=)
|
rs3729710
|
0.03372
|
NM_001276345.2(TNNT2):c.610-90G>A
|
rs11810834
|
0.03251
|
NM_000152.5(GAA):c.-178G>A
|
rs77514632
|
0.02487
|
NM_000152.5(GAA):c.-338C>G
|
rs144639114
|
0.02435
|
NM_017950.4(CCDC40):c.*654A>C
|
rs2289538
|
0.02366
|
NM_000152.5(GAA):c.271G>A (p.Asp91Asn)
|
rs1800299
|
0.02215
|
NM_000371.4(TTR):c.*21C>A
|
rs12226
|
0.02158
|
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg)
|
rs11934801
|
0.01974
|
NM_001100.4(ACTA1):c.996C>A (p.Ile332=)
|
rs74897770
|
0.01920
|
NM_001276345.2(TNNT2):c.*66G>A
|
rs3729998
|
0.01883
|
NM_000371.3(TTR):c.*261C>T
|
rs62093482
|
0.01852
|
NM_032578.4(MYPN):c.2410G>A (p.Gly804Arg)
|
rs62620248
|
0.01839
|
NM_017950.4(CCDC40):c.*265C>T
|
rs74000393
|
0.01774
|
NM_006206.6(PDGFRA):c.1019G>A (p.Arg340Gln)
|
rs77524207
|
0.01633
|
NM_032578.4(MYPN):c.2886= (p.Val962=)
|
rs10733838
|
0.01557
|
NM_001276345.2(TNNT2):c.163+12G>A
|
rs45580032
|
0.01441
|
NM_006206.6(PDGFRA):c.*1429C>T
|
rs56288633
|
0.01364
|
NM_032578.4(MYPN):c.2925+9G>C
|
rs12241644
|
0.01362
|
NM_001276345.2(TNNT2):c.42-20G>A
|
rs45561443
|
0.01192
|
NM_000371.3(TTR):c.*345G>A
|
rs58172837
|
0.01182
|
NM_032578.4(MYPN):c.3279C>T (p.Asp1093=)
|
rs115033934
|
0.01152
|
NM_001276345.2(TNNT2):c.294+7G>A
|
rs45490292
|
0.01066
|
NM_000152.5(GAA):c.1075+13C>T
|
rs41292402
|
0.01065
|
NM_032578.4(MYPN):c.2447C>T (p.Pro816Leu)
|
rs111965755
|
0.01059
|
NM_006206.6(PDGFRA):c.*2504C>T
|
rs149631103
|
0.00967
|
NM_000203.5(IDUA):c.299+6C>T
|
rs147498923
|
0.00924
|
NM_032578.4(MYPN):c.1245+20A>G
|
rs111634581
|
0.00919
|
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr)
|
rs58037052
|
0.00910
|
NM_001100.4(ACTA1):c.453C>A (p.Thr151=)
|
rs76030344
|
0.00904
|
NM_032578.4(MYPN):c.-2+9C>T
|
rs75716608
|
0.00900
|
NM_006206.6(PDGFRA):c.236G>A (p.Gly79Asp)
|
rs36035373
|
0.00897
|
NM_000157.4(GBA1):c.762-18T>A
|
rs140335079
|
0.00896
|
NM_001256715.2(DNAAF3):c.1405G>A (p.Val469Met)
|
rs114601492
|
0.00882
|
NM_001276345.2(TNNT2):c.68-8A>G
|
rs115805892
|
0.00864
|
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys)
|
rs3729823
|
0.00861
|
NM_001276345.2(TNNT2):c.610-81C>T
|
rs28730745
|
0.00831
|
NM_017950.4(CCDC40):c.3340G>A (p.Val1114Met)
|
rs61740509
|
0.00831
|
NM_001276345.2(TNNT2):c.474G>C (p.Arg158=)
|
rs35914325
|
0.00788
|
NM_032578.4(MYPN):c.1600+21G>C
|
rs41278498
|
0.00739
|
NM_000152.5(GAA):c.2400C>T (p.Ser800=)
|
rs115705591
|
0.00724
|
NM_006206.6(PDGFRA):c.1320G>A (p.Thr440=)
|
rs56026726
|
0.00722
|
NM_006206.6(PDGFRA):c.672G>A (p.Val224=)
|
rs151259376
|
0.00707
|
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser)
|
rs77615401
|
0.00699
|
NM_000363.4(TNNI3):c.-148A>G
|
rs73935313
|
0.00695
|
NM_001276345.2(TNNT2):c.200-29C>G
|
rs45449197
|
0.00690
|
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser)
|
rs1800307
|
0.00653
|
NM_001943.5(DSG2):c.2647T>C (p.Ser883Pro)
|
rs34417028
|
0.00652
|
NM_001943.5(DSG2):c.2708C>T (p.Thr903Ile)
|
rs34065672
|
0.00649
|
NM_000152.5(GAA):c.852G>A (p.Ala284=)
|
rs142626724
|
0.00638
|
NM_000363.5(TNNI3):c.-47C>T
|
rs202159627
|
0.00625
|
NM_181703.4(GJA5):c.369C>T (p.Tyr123=)
|
rs2232191
|
0.00582
|
NM_032578.4(MYPN):c.3493+11C>T
|
rs113674647
|
0.00520
|
NM_032578.4(MYPN):c.1134C>T (p.Ile378=)
|
rs145701607
|
0.00504
|
NM_006206.6(PDGFRA):c.*2559G>A
|
rs138584193
|
0.00503
|
NM_000371.4(TTR):c.424G>A (p.Val142Ile)
|
rs76992529
|
0.00501
|
NM_000152.5(GAA):c.546+18G>A
|
rs190153982
|
0.00474
|
NM_000152.5(GAA):c.2580C>T (p.Asp860=)
|
rs61736894
|
0.00459
|
NM_006206.6(PDGFRA):c.201C>T (p.Ser67=)
|
rs35805947
|
0.00429
|
NM_001256715.2(DNAAF3):c.1248G>A (p.Val416=)
|
rs111250144
|
0.00398
|
NM_032578.4(MYPN):c.3078G>A (p.Gly1026=)
|
rs114479328
|
0.00385
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
NM_006206.6(PDGFRA):c.2778C>T (p.Tyr926=)
|
rs138519829
|
0.00372
|
NM_000152.5(GAA):c.447G>A (p.Thr149=)
|
rs2289536
|
0.00362
|
NM_001276345.2(TNNT2):c.53-47C>G
|
rs45553832
|
0.00345
|
NM_032578.4(MYPN):c.3421G>A (p.Ala1141Thr)
|
rs150404143
|
0.00321
|
NM_000152.5(GAA):c.1438-32G>A
|
rs199897967
|
0.00320
|
NM_000152.5(GAA):c.2571G>T (p.Leu857=)
|
rs17853996
|
0.00319
|
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu)
|
rs71534278
|
0.00318
|
NM_006206.5(PDGFRA):c.-170C>T
|
rs183431225
|
0.00310
|
NM_000371.4(TTR):c.336+19G>A
|
rs75517067
|
0.00309
|
NM_006206.6(PDGFRA):c.661C>T (p.Leu221Phe)
|
rs139913632
|
0.00307
|
NM_005751.5(AKAP9):c.8485G>A (p.Glu2829Lys)
|
rs149946443
|
0.00303
|
NM_000152.5(GAA):c.917C>T (p.Ser306Leu)
|
rs138097673
|
0.00292
|
NM_032578.4(MYPN):c.1079-18T>C
|
rs114932559
|
0.00278
|
NM_000152.5(GAA):c.1552-13G>A
|
rs111261964
|
0.00276
|
NM_000203.5(IDUA):c.246C>G (p.His82Gln)
|
rs148775298
|
0.00274
|
NM_000203.5(IDUA):c.965T>A (p.Val322Glu)
|
rs76722191
|
0.00271
|
NM_000152.5(GAA):c.2481+16G>A
|
rs41292408
|
0.00252
|
NM_000152.5(GAA):c.*521A>G
|
rs142506588
|
0.00241
|
NM_000157.4(GBA1):c.1444G>A (p.Asp482Asn)
|
rs75671029
|
0.00236
|
NM_032578.4(MYPN):c.2236A>G (p.Thr746Ala)
|
rs147287437
|
0.00225
|
NM_032578.4(MYPN):c.3846T>A (p.Ser1282Arg)
|
rs147659164
|
0.00222
|
NM_002471.4(MYH6):c.3883G>C (p.Glu1295Gln)
|
rs34935550
|
0.00217
|
NM_000152.5(GAA):c.2647-8C>T
|
rs139201641
|
0.00216
|
NM_006206.6(PDGFRA):c.996C>T (p.Val332=)
|
rs142498442
|
0.00204
|
NM_000363.5(TNNI3):c.273G>A (p.Ala91=)
|
rs75491697
|
0.00198
|
NM_032578.4(MYPN):c.1893G>A (p.Arg631=)
|
rs145440469
|
0.00198
|
NM_000152.5(GAA):c.676C>G (p.Leu226Val)
|
rs113085339
|
0.00193
|
NM_001256715.2(DNAAF3):c.531C>T (p.Gly177=)
|
rs559008223
|
0.00192
|
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)
|
rs76763715
|
0.00191
|
NM_032578.4(MYPN):c.1563C>T (p.Tyr521=)
|
rs77249928
|
0.00189
|
NM_006206.6(PDGFRA):c.1122G>C (p.Arg374Ser)
|
rs61735622
|
0.00183
|
NM_000152.5(GAA):c.2332-12A>T
|
rs200965268
|
0.00178
|
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp)
|
rs148041814
|
0.00178
|
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg)
|
rs35736435
|
0.00177
|
NM_000371.4(TTR):c.416C>T (p.Thr139Met)
|
rs28933981
|
0.00177
|
NM_000152.5(GAA):c.258C>A (p.Pro86=)
|
rs146615896
|
0.00170
|
NM_001100.4(ACTA1):c.*248G>A
|
rs551585351
|
0.00167
|
NM_006172.4(NPPA):c.190A>C (p.Ser64Arg)
|
rs61757261
|
0.00165
|
NM_000152.5(GAA):c.-312C>T
|
rs574326920
|
0.00161
|
NM_032578.4(MYPN):c.1790G>A (p.Arg597His)
|
rs150911078
|
0.00158
|
NM_032578.4(MYPN):c.1246-19G>A
|
rs75739924
|
0.00157
|
NM_032578.4(MYPN):c.1104C>T (p.Gly368=)
|
rs144764983
|
0.00154
|
NM_000152.5(GAA):c.-116C>T
|
rs190152638
|
0.00153
|
NM_006206.6(PDGFRA):c.*51G>A
|
rs141346675
|
0.00148
|
NM_000152.5(GAA):c.692+17G>C
|
rs199559553
|
0.00147
|
NM_000363.5(TNNI3):c.109-17C>A
|
rs139150276
|
0.00147
|
NM_000363.5(TNNI3):c.-85A>C
|
rs186540595
|
0.00142
|
NM_000363.5(TNNI3):c.373-15C>G
|
rs192630178
|
0.00141
|
NM_000152.5(GAA):c.1352C>G (p.Pro451Arg)
|
rs7215458
|
0.00140
|
NM_001276345.2(TNNT2):c.68-5C>T
|
rs540630390
|
0.00133
|
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys)
|
rs140148105
|
0.00130
|
NM_206937.2(LIG4):c.2525C>A (p.Ala842Asp)
|
rs72660870
|
0.00129
|
NM_000371.4(TTR):c.360C>T (p.Ser120=)
|
rs150127220
|
0.00128
|
NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile)
|
rs138313730
|
0.00123
|
NM_006206.5(PDGFRA):c.-284G>A
|
rs145549583
|
0.00121
|
NM_006206.6(PDGFRA):c.*2336T>C
|
rs574665425
|
0.00121
|
NM_000152.5(GAA):c.1830C>T (p.Ala610=)
|
rs61736896
|
0.00118
|
NM_000152.5(GAA):c.*288G>T
|
rs568131293
|
0.00113
|
NM_000152.5(GAA):c.915G>A (p.Gly305=)
|
rs150343359
|
0.00113
|
NM_004006.3(DMD):c.1513G>C (p.Val505Leu)
|
rs140340626
|
0.00113
|
NM_000152.5(GAA):c.2415G>A (p.Val805=)
|
rs150536507
|
0.00112
|
NM_181703.4(GJA5):c.726G>A (p.Arg242=)
|
rs150432230
|
0.00109
|
NM_006206.6(PDGFRA):c.1731G>A (p.Pro577=)
|
rs55830582
|
0.00105
|
NM_000371.4(TTR):c.417G>A (p.Thr139=)
|
rs2276382
|
0.00104
|
NM_000363.5(TNNI3):c.-103C>T
|
rs557391836
|
0.00102
|
NM_000152.5(GAA):c.726G>A (p.Ala242=)
|
rs148578399
|
0.00101
|
NM_032578.4(MYPN):c.1122G>A (p.Glu374=)
|
rs145103325
|
0.00101
|
NM_032578.4(MYPN):c.3792C>T (p.Tyr1264=)
|
rs142307556
|
0.00100
|
NM_006206.6(PDGFRA):c.*534A>G
|
rs566508858
|
0.00099
|
NM_032578.4(MYPN):c.465C>G (p.Ala155=)
|
rs142867001
|
0.00099
|
NM_032578.4(MYPN):c.1460-14T>A
|
rs201156035
|
0.00096
|
NM_032578.4(MYPN):c.2880T>G (p.Ser960=)
|
rs146028308
|
0.00096
|
NM_032578.4(MYPN):c.65C>G (p.Ala22Gly)
|
rs145142157
|
0.00096
|
NM_006206.6(PDGFRA):c.*2538G>A
|
rs377126983
|
0.00095
|
NM_000157.4(GBA1):c.1473C>T (p.Pro491=)
|
rs149257166
|
0.00094
|
NM_000152.5(GAA):c.*443G>A
|
rs147801821
|
0.00093
|
NM_032578.4(MYPN):c.734C>G (p.Ala245Gly)
|
rs143574079
|
0.00093
|
NM_000157.4(GBA1):c.1200G>A (p.Met400Ile)
|
rs149487315
|
0.00091
|
NM_006206.6(PDGFRA):c.*2873C>T
|
rs147418921
|
0.00087
|
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter)
|
rs121965019
|
0.00086
|
NM_006206.6(PDGFRA):c.599C>G (p.Thr200Ser)
|
rs149951350
|
0.00086
|
NM_006206.6(PDGFRA):c.*2100A>G
|
rs192159089
|
0.00083
|
NM_032578.4(MYPN):c.3583G>A (p.Val1195Met)
|
rs71534280
|
0.00083
|
NM_000152.5(GAA):c.1755-18T>C
|
rs201399518
|
0.00082
|
NM_006206.6(PDGFRA):c.*2546A>G
|
rs112690644
|
0.00081
|
NM_032578.4(MYPN):c.1293C>A (p.Ile431=)
|
rs147184158
|
0.00081
|
NM_006206.6(PDGFRA):c.3228C>T (p.Ile1076=)
|
rs148629782
|
0.00076
|
NM_032578.4(MYPN):c.2228C>T (p.Pro743Leu)
|
rs138583865
|
0.00076
|
NM_006206.5(PDGFRA):c.*2973+14G>A
|
rs137930765
|
0.00074
|
NM_001276345.2(TNNT2):c.98-81G>A
|
rs45576939
|
0.00067
|
NM_001100.4(ACTA1):c.132C>T (p.Gly44=)
|
rs146956806
|
0.00066
|
NM_006206.6(PDGFRA):c.1325T>C (p.Leu442Pro)
|
rs139236922
|
0.00064
|
NM_006206.6(PDGFRA):c.3156G>A (p.Thr1052=)
|
rs55996208
|
0.00064
|
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)
|
rs121907943
|
0.00063
|
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter)
|
rs121965020
|
0.00063
|
NM_032578.4(MYPN):c.2703+13G>A
|
rs375320760
|
0.00063
|
NM_032578.4(MYPN):c.2925+18C>T
|
rs372714890
|
0.00063
|
NM_006206.6(PDGFRA):c.*2496A>G
|
rs184179322
|
0.00058
|
NM_016599.5(MYOZ2):c.488T>C (p.Leu163Ser)
|
rs143345726
|
0.00058
|
NM_032578.4(MYPN):c.1130G>A (p.Arg377Gln)
|
rs147596628
|
0.00058
|
NM_032578.4(MYPN):c.1236C>A (p.Thr412=)
|
rs151220474
|
0.00058
|
NM_000152.5(GAA):c.1343G>C (p.Ser448Thr)
|
rs145712232
|
0.00057
|
NM_032578.4(MYPN):c.802C>T (p.Pro268Ser)
|
rs201454261
|
0.00057
|
NM_000152.5(GAA):c.1438-9G>A
|
rs202211401
|
0.00056
|
NM_000152.5(GAA):c.2417C>T (p.Thr806Met)
|
rs139850074
|
0.00056
|
NM_006206.6(PDGFRA):c.1280C>T (p.Ser427Leu)
|
rs61735621
|
0.00056
|
NM_032578.4(MYPN):c.1935C>T (p.Pro645=)
|
rs71535754
|
0.00056
|
NM_000152.5(GAA):c.858+8G>A
|
rs5822325
|
0.00055
|
NM_006206.6(PDGFRA):c.*39C>T
|
rs55681376
|
0.00055
|
NM_032578.4(MYPN):c.3833G>A (p.Arg1278Gln)
|
rs142877365
|
0.00052
|
NM_001100.4(ACTA1):c.1125A>G (p.Lys375=)
|
rs142311664
|
0.00050
|
NM_000363.5(TNNI3):c.235C>T (p.Arg79Cys)
|
rs3729712
|
0.00048
|
NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly)
|
rs201492706
|
0.00048
|
NM_206937.2(LIG4):c.691C>T (p.Pro231Ser)
|
rs3093765
|
0.00048
|
NM_000152.5(GAA):c.859-18G>A
|
rs377222482
|
0.00046
|
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val)
|
rs200754249
|
0.00046
|
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)
|
rs121964857
|
0.00044
|
NM_000203.5(IDUA):c.494G>A (p.Gly165Asp)
|
rs150763745
|
0.00043
|
NM_005159.4(ACTC1):c.*1781C>T
|
rs560065427
|
0.00041
|
NM_032578.4(MYPN):c.1944G>A (p.Glu648=)
|
rs151017803
|
0.00041
|
NM_000371.4(TTR):c.328C>A (p.His110Asn)
|
rs121918074
|
0.00040
|
NM_032578.4(MYPN):c.2190G>A (p.Thr730=)
|
rs71584492
|
0.00040
|
NM_000152.5(GAA):c.2109C>T (p.Tyr703=)
|
rs150728610
|
0.00038
|
NM_000152.5(GAA):c.257C>G (p.Pro86Arg)
|
rs2229222
|
0.00038
|
NM_000152.5(GAA):c.600C>T (p.Val200=)
|
rs150895924
|
0.00038
|
NM_000152.5(GAA):c.752C>T (p.Ser251Leu)
|
rs200856561
|
0.00038
|
NM_000152.5(GAA):c.*64G>T
|
rs187532717
|
0.00037
|
NM_032578.4(MYPN):c.1662A>C (p.Ala554=)
|
rs71584488
|
0.00037
|
NM_181703.4(GJA5):c.995G>A (p.Arg332His)
|
rs116551187
|
0.00037
|
NM_000152.5(GAA):c.2652G>A (p.Thr884=)
|
rs143642048
|
0.00036
|
NM_005159.4(ACTC1):c.*983C>T
|
rs549986676
|
0.00035
|
NM_006206.6(PDGFRA):c.*2970G>T
|
rs752208389
|
0.00035
|
NM_000152.5(GAA):c.1754+11C>T
|
rs371644603
|
0.00034
|
NM_001100.4(ACTA1):c.786G>C (p.Thr262=)
|
rs141030526
|
0.00034
|
NM_006206.6(PDGFRA):c.1285G>A (p.Gly429Arg)
|
rs150577828
|
0.00034
|
NM_032578.4(MYPN):c.3124C>T (p.Arg1042Cys)
|
rs151282801
|
0.00034
|
NM_000152.5(GAA):c.841C>T (p.Arg281Trp)
|
rs142967546
|
0.00033
|
NM_000152.5(GAA):c.2478G>A (p.Leu826=)
|
rs201183207
|
0.00031
|
NM_001276345.2(TNNT2):c.*37C>T
|
rs149240770
|
0.00031
|
NM_001276345.2(TNNT2):c.720-13_720-11del
|
rs397516480
|
0.00031
|
NM_181703.4(GJA5):c.111G>A (p.Leu37=)
|
rs138362351
|
0.00031
|
NM_006206.5(PDGFRA):c.-318G>A
|
rs533627398
|
0.00030
|
NM_006206.6(PDGFRA):c.276G>A (p.Ala92=)
|
rs140725151
|
0.00030
|
NM_001276345.2(TNNT2):c.41+16A>G
|
rs370729174
|
0.00029
|
NM_006206.6(PDGFRA):c.*332G>A
|
rs750090756
|
0.00029
|
NM_006206.6(PDGFRA):c.-13+12G>T
|
rs760170961
|
0.00029
|
NM_001100.4(ACTA1):c.549G>A (p.Ala183=)
|
rs200094415
|
0.00027
|
NM_000152.5(GAA):c.*98A>T
|
rs886053548
|
0.00026
|
NM_000152.5(GAA):c.119G>A (p.Arg40Gln)
|
rs374476196
|
0.00026
|
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg)
|
rs200294882
|
0.00026
|
NM_000152.5(GAA):c.2332-10C>G
|
rs373606162
|
0.00026
|
NM_000152.5(GAA):c.2736G>A (p.Ala912=)
|
rs142472738
|
0.00026
|
NM_000152.5(GAA):c.32G>A (p.Arg11Gln)
|
rs138812846
|
0.00026
|
NM_000203.5(IDUA):c.-71C>T
|
rs886059748
|
0.00026
|
NM_006206.6(PDGFRA):c.*1249C>T
|
rs777258903
|
0.00026
|
NM_032578.4(MYPN):c.3818C>T (p.Pro1273Leu)
|
rs148942084
|
0.00026
|
NM_006206.6(PDGFRA):c.*1561T>C
|
rs145328998
|
0.00025
|
NM_006206.6(PDGFRA):c.*1928G>C
|
rs748063948
|
0.00025
|
NM_181703.4(GJA5):c.13A>G (p.Ser5Gly)
|
rs144069395
|
0.00025
|
NM_000152.5(GAA):c.1019A>G (p.Tyr340Cys)
|
rs144857480
|
0.00024
|
NM_000152.5(GAA):c.1552-14C>T
|
rs199715011
|
0.00024
|
NM_000152.5(GAA):c.2275G>A (p.Gly759Arg)
|
rs138183791
|
0.00024
|
NM_000152.5(GAA):c.922C>T (p.His308Tyr)
|
rs112025212
|
0.00024
|
NM_006206.6(PDGFRA):c.*2121C>A
|
rs557865852
|
0.00024
|
NM_006206.6(PDGFRA):c.801A>G (p.Pro267=)
|
rs55966236
|
0.00024
|
NM_032578.4(MYPN):c.2321C>A (p.Ser774Tyr)
|
rs140933016
|
0.00024
|
NM_000152.5(GAA):c.1310G>A (p.Arg437His)
|
rs150868652
|
0.00023
|
NM_000152.5(GAA):c.2040+17G>A
|
rs534129336
|
0.00023
|
NM_000371.3(TTR):c.*191C>T
|
rs556327750
|
0.00023
|
NM_000152.5(GAA):c.1599C>T (p.Cys533=)
|
rs142766716
|
0.00022
|
NM_000157.4(GBA1):c.1224G>A (p.Thr408=)
|
rs138498426
|
0.00022
|
NM_032578.4(MYPN):c.2229G>A (p.Pro743=)
|
rs148360410
|
0.00022
|
NM_032578.4(MYPN):c.2725G>A (p.Glu909Lys)
|
rs1371494498
|
0.00022
|
NM_000152.5(GAA):c.2152G>A (p.Val718Ile)
|
rs141017311
|
0.00021
|
NM_000152.5(GAA):c.2245G>T (p.Ala749Ser)
|
rs148311222
|
0.00021
|
NM_000152.5(GAA):c.2323C>A (p.Leu775Met)
|
rs147290429
|
0.00021
|
NM_000363.5(TNNI3):c.373-16C>T
|
rs373508654
|
0.00021
|
NM_001276345.2(TNNT2):c.200-11A>G
|
rs368658464
|
0.00021
|
NM_032578.4(MYPN):c.3660-14C>T
|
rs376460992
|
0.00021
|
NM_032578.4(MYPN):c.952G>A (p.Val318Ile)
|
rs112518450
|
0.00021
|
NM_000152.5(GAA):c.1888+10_1888+11insC
|
rs748036956
|
0.00020
|
NM_000152.5(GAA):c.2253C>T (p.Leu751=)
|
rs140441758
|
0.00020
|
NM_000152.5(GAA):c.2751C>T (p.Leu917=)
|
rs146507838
|
0.00020
|
NM_000157.4(GBA1):c.1342G>C (p.Asp448His)
|
rs1064651
|
0.00020
|
NM_006206.6(PDGFRA):c.*2142G>A
|
rs914482961
|
0.00020
|
NM_006206.6(PDGFRA):c.*2186G>A
|
rs569793596
|
0.00020
|
NM_006206.6(PDGFRA):c.*691G>A
|
rs117287047
|
0.00020
|
NM_181703.4(GJA5):c.286G>T (p.Ala96Ser)
|
rs121434557
|
0.00020
|
NM_000152.5(GAA):c.2156C>A (p.Ala719Glu)
|
rs146762316
|
0.00019
|
NM_000152.5(GAA):c.2395C>T (p.His799Tyr)
|
rs143347747
|
0.00019
|
NM_000152.5(GAA):c.250G>A (p.Val84Ile)
|
rs139595011
|
0.00019
|
NM_000152.5(GAA):c.525del (p.Glu176fs)
|
rs386834235
|
0.00019
|
NM_000152.5(GAA):c.693-4G>T
|
rs200088236
|
0.00019
|
NM_000371.4(TTR):c.190T>C (p.Phe64Leu)
|
rs138065384
|
0.00019
|
NM_000371.4(TTR):c.368G>A (p.Arg123His)
|
rs148538950
|
0.00019
|
NM_000371.4(TTR):c.371G>A (p.Arg124His)
|
rs121918095
|
0.00019
|
NM_006206.6(PDGFRA):c.*1778C>A
|
rs182602738
|
0.00019
|
NM_181703.4(GJA5):c.348G>A (p.Glu116=)
|
rs150168016
|
0.00019
|
NM_181703.4(GJA5):c.793C>T (p.Pro265Ser)
|
rs148311482
|
0.00019
|
NM_206937.2(LIG4):c.712A>G (p.Ile238Val)
|
rs149012859
|
0.00019
|
NM_000152.5(GAA):c.*310C>T
|
rs550314730
|
0.00018
|
NM_000152.5(GAA):c.1232G>A (p.Arg411Gln)
|
rs372799904
|
0.00018
|
NM_000152.5(GAA):c.1285C>G (p.Gln429Glu)
|
rs528369909
|
0.00018
|
NM_000152.5(GAA):c.131G>T (p.Gly44Val)
|
rs550609502
|
0.00017
|
NM_000152.5(GAA):c.1320G>T (p.Met440Ile)
|
rs550837627
|
0.00017
|
NM_000152.5(GAA):c.1848C>T (p.Asp616=)
|
rs377175810
|
0.00017
|
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln)
|
rs149968110
|
0.00017
|
NM_000371.4(TTR):c.14G>A (p.Arg5His)
|
rs138657343
|
0.00017
|
NM_000152.5(GAA):c.2274C>T (p.Ala758=)
|
rs150431943
|
0.00016
|
NM_000152.5(GAA):c.2799+19G>A
|
rs558187268
|
0.00016
|
NM_000157.4(GBA1):c.222_224del (p.Thr75del)
|
rs761621516
|
0.00016
|
NM_000157.4(GBA1):c.882T>G (p.His294Gln)
|
rs367968666
|
0.00016
|
NM_000371.3(TTR):c.*304C>T
|
rs541989755
|
0.00016
|
NM_006172.4(NPPA):c.449G>A (p.Arg150Gln)
|
rs202102042
|
0.00016
|
NM_032578.4(MYPN):c.1900G>A (p.Gly634Arg)
|
rs148407539
|
0.00016
|
NM_032578.4(MYPN):c.2976C>T (p.Cys992=)
|
rs768202837
|
0.00016
|
NM_032578.4(MYPN):c.392G>T (p.Ser131Ile)
|
rs199853307
|
0.00016
|
NM_000152.5(GAA):c.1332T>C (p.Pro444=)
|
rs200007324
|
0.00015
|
NM_000152.5(GAA):c.368G>A (p.Gly123Glu)
|
rs138034915
|
0.00015
|
NM_000371.4(TTR):c.384C>T (p.Ala128=)
|
rs143906738
|
0.00015
|
NM_001276345.2(TNNT2):c.692T>C (p.Ile231Thr)
|
rs45520032
|
0.00015
|
NM_000152.5(GAA):c.1593C>T (p.Asp531=)
|
rs138732016
|
0.00014
|
NM_000152.5(GAA):c.1888+5G>T
|
rs528282884
|
0.00014
|
NM_000152.5(GAA):c.2052G>A (p.Pro684=)
|
rs546463058
|
0.00014
|
NM_000371.3(TTR):c.*234G>C
|
rs542619281
|
0.00014
|
NM_000371.4(TTR):c.-61G>A
|
rs770403822
|
0.00014
|
NM_006206.6(PDGFRA):c.1135T>G (p.Leu379Val)
|
rs199827643
|
0.00014
|
NM_032578.4(MYPN):c.845A>G (p.Glu282Gly)
|
rs146336815
|
0.00014
|
NM_181703.4(GJA5):c.798C>T (p.Asp266=)
|
rs116155008
|
0.00014
|
NM_000152.5(GAA):c.1755-7A>G
|
rs781539108
|
0.00013
|
NM_000152.5(GAA):c.2381G>A (p.Arg794His)
|
rs200505871
|
0.00013
|
NM_000152.5(GAA):c.546+3G>A
|
rs371405931
|
0.00013
|
NM_000203.5(IDUA):c.1861C>G (p.Arg621Gly)
|
rs121965025
|
0.00013
|
NM_004415.4(DSP):c.2774G>A (p.Arg925Gln)
|
rs139799237
|
0.00013
|
NM_032578.4(MYPN):c.1483+11T>C
|
rs765156367
|
0.00013
|
NM_032578.4(MYPN):c.1952C>A (p.Pro651Gln)
|
rs548318517
|
0.00013
|
NM_181703.4(GJA5):c.472C>T (p.Leu158=)
|
rs782668682
|
0.00013
|
NM_000152.5(GAA):c.*2C>T
|
rs761162129
|
0.00012
|
NM_000152.5(GAA):c.1288G>A (p.Glu430Lys)
|
rs375433002
|
0.00012
|
NM_000152.5(GAA):c.1860C>T (p.Ser620=)
|
rs370369972
|
0.00012
|
NM_000152.5(GAA):c.2331+11G>C
|
rs376709495
|
0.00012
|
NM_000152.5(GAA):c.362A>G (p.Gln121Arg)
|
rs150284874
|
0.00012
|
NM_000152.5(GAA):c.663C>T (p.Ile221=)
|
rs142878958
|
0.00012
|
NM_000363.5(TNNI3):c.132G>C (p.Ser44=)
|
rs727504941
|
0.00012
|
NM_006172.4(NPPA):c.197C>T (p.Pro66Leu)
|
rs150794709
|
0.00012
|
NM_006206.6(PDGFRA):c.1631T>C (p.Val544Ala)
|
rs181854060
|
0.00012
|
NM_032578.4(MYPN):c.2877C>T (p.Gly959=)
|
rs550033843
|
0.00012
|
NM_032578.4(MYPN):c.3913A>G (p.Met1305Val)
|
rs730880170
|
0.00012
|
NM_032578.4(MYPN):c.3934C>T (p.Arg1312Trp)
|
rs142354704
|
0.00012
|
NM_033118.4(MYLK2):c.910G>A (p.Glu304Lys)
|
rs767211264
|
0.00012
|
NM_000152.5(GAA):c.1872C>T (p.Leu624=)
|
rs373103422
|
0.00011
|
NM_000152.5(GAA):c.2161G>C (p.Glu721Gln)
|
rs140376273
|
0.00011
|
NM_000152.5(GAA):c.546+4G>C
|
rs550618589
|
0.00011
|
NM_000152.5(GAA):c.913G>A (p.Gly305Arg)
|
rs200154987
|
0.00011
|
NM_000157.4(GBA1):c.168C>T (p.Val56=)
|
rs145773486
|
0.00011
|
NM_000157.4(GBA1):c.680A>G (p.Asn227Ser)
|
rs364897
|
0.00011
|
NM_000203.5(IDUA):c.299+1542A>T
|
rs387907487
|
0.00011
|
NM_000203.5(IDUA):c.299+3399C>T
|
rs368990025
|
0.00011
|
NM_001276345.2(TNNT2):c.852-19C>T
|
rs759855940
|
0.00011
|
NM_006206.6(PDGFRA):c.*2604G>T
|
rs547925170
|
0.00011
|
NM_006206.6(PDGFRA):c.2965A>G (p.Ile989Val)
|
rs145019788
|
0.00011
|
NM_032578.4(MYPN):c.1012C>T (p.Arg338Cys)
|
rs140037748
|
0.00011
|
NM_032578.4(MYPN):c.2742T>C (p.Asn914=)
|
rs372375235
|
0.00011
|
NM_032578.4(MYPN):c.3504G>A (p.Val1168=)
|
rs755327022
|
0.00011
|
NM_032578.4(MYPN):c.3848G>A (p.Arg1283His)
|
rs372512501
|
0.00011
|
NM_032578.4(MYPN):c.3935G>A (p.Arg1312Gln)
|
rs761812034
|
0.00011
|
NM_032578.4(MYPN):c.395C>T (p.Pro132Leu)
|
rs201203517
|
0.00011
|
NM_181703.4(GJA5):c.973A>C (p.Asn325His)
|
rs782592443
|
0.00011
|
NM_206937.2(LIG4):c.1705A>G (p.Met569Val)
|
rs774699419
|
0.00011
|
NM_000152.5(GAA):c.-62A>C
|
rs367731841
|
0.00010
|
NM_000152.5(GAA):c.1357G>A (p.Gly453Arg)
|
rs550065979
|
0.00010
|
NM_000152.5(GAA):c.1637-12C>T
|
rs374923144
|
0.00010
|
NM_000152.5(GAA):c.1758G>A (p.Ala586=)
|
rs79795428
|
0.00010
|
NM_000152.5(GAA):c.1920T>G (p.Pro640=)
|
rs144090460
|
0.00010
|
NM_000152.5(GAA):c.2122C>T (p.His708Tyr)
|
rs149916476
|
0.00010
|
NM_000152.5(GAA):c.2319C>T (p.Tyr773=)
|
rs377402848
|
0.00010
|
NM_000152.5(GAA):c.2482-18G>A
|
rs757911622
|
0.00010
|
NM_000152.5(GAA):c.610G>A (p.Ala204Thr)
|
rs780799275
|
0.00010
|
NM_000152.5(GAA):c.725C>A (p.Ala242Glu)
|
rs745861849
|
0.00010
|
NM_000152.5(GAA):c.76C>T (p.Leu26Phe)
|
rs149761650
|
0.00010
|
NM_000152.5(GAA):c.851C>G (p.Ala284Gly)
|
rs147569830
|
0.00010
|
NM_000371.4(TTR):c.140A>G (p.Asn47Ser)
|
rs145551875
|
0.00010
|
NM_001276345.2(TNNT2):c.852-23A>G
|
rs371692788
|
0.00010
|
NM_006172.4(NPPA):c.375G>A (p.Leu125=)
|
rs765926210
|
0.00010
|
NM_032578.4(MYPN):c.259C>G (p.Pro87Ala)
|
rs376945733
|
0.00010
|
NM_000152.5(GAA):c.1076-16C>T
|
rs367704731
|
0.00009
|
NM_000152.5(GAA):c.1302C>T (p.Gly434=)
|
rs752231775
|
0.00009
|
NM_000152.5(GAA):c.1482A>G (p.Thr494=)
|
rs202064115
|
0.00009
|
NM_000152.5(GAA):c.1630G>A (p.Val544Met)
|
rs567695610
|
0.00009
|
NM_000152.5(GAA):c.1754+21C>T
|
rs373387713
|
0.00009
|
NM_000152.5(GAA):c.1818C>T (p.His606=)
|
rs374368644
|
0.00009
|
NM_000152.5(GAA):c.1979G>A (p.Arg660His)
|
rs374143224
|
0.00009
|
NM_000152.5(GAA):c.297C>T (p.Thr99=)
|
rs771846178
|
0.00009
|
NM_000152.5(GAA):c.546+6C>T
|
rs375727055
|
0.00009
|
NM_000152.5(GAA):c.664G>A (p.Val222Met)
|
rs374569672
|
0.00009
|
NM_000152.5(GAA):c.682G>A (p.Gly228Ser)
|
rs747150907
|
0.00009
|
NM_000152.5(GAA):c.711G>A (p.Ala237=)
|
rs368328598
|
0.00009
|
NM_000203.5(IDUA):c.787A>T (p.Arg263Trp)
|
rs201268637
|
0.00009
|
NM_000371.4(TTR):c.354C>T (p.Asn118=)
|
rs11541797
|
0.00009
|
NM_001100.4(ACTA1):c.867C>T (p.Ile289=)
|
rs140074813
|
0.00009
|
NM_001267550.2(TTN):c.92009T>C (p.Ile30670Thr)
|
rs369342933
|
0.00009
|
NM_001276345.2(TNNT2):c.208A>G (p.Met70Val)
|
rs141837529
|
0.00009
|
NM_001276345.2(TNNT2):c.295-19C>T
|
rs587780969
|
0.00009
|
NM_001276345.2(TNNT2):c.720-4G>T
|
rs201753429
|
0.00009
|
NM_001276345.2(TNNT2):c.774C>T (p.Phe258=)
|
rs397516481
|
0.00009
|
NM_001276345.2(TNNT2):c.837C>T (p.Asn279=)
|
rs376923877
|
0.00009
|
NM_001276345.2(TNNT2):c.98-186C>T
|
rs576888252
|
0.00009
|
NM_006206.6(PDGFRA):c.17C>T (p.Pro6Leu)
|
rs754092062
|
0.00009
|
NM_032578.4(MYPN):c.1725A>G (p.Lys575=)
|
rs143213775
|
0.00009
|
NM_032578.4(MYPN):c.2260A>C (p.Ile754Leu)
|
rs201245117
|
0.00009
|
NM_032578.4(MYPN):c.2864G>A (p.Arg955Gln)
|
rs199476414
|
0.00009
|
NM_032578.4(MYPN):c.3567G>A (p.Val1189=)
|
rs1308500781
|
0.00009
|
NM_000152.5(GAA):c.1194+3G>C
|
rs368539333
|
0.00008
|
NM_000152.5(GAA):c.1265G>A (p.Arg422Gln)
|
rs2229224
|
0.00008
|
NM_000152.5(GAA):c.1552-3C>G
|
rs375470378
|
0.00008
|
NM_000152.5(GAA):c.2041-4G>T
|
rs775757700
|
0.00008
|
NM_000152.5(GAA):c.2320G>A (p.Asp774Asn)
|
rs758390382
|
0.00008
|
NM_000152.5(GAA):c.2604G>A (p.Leu868=)
|
rs772250523
|
0.00008
|
NM_000152.5(GAA):c.533G>A (p.Arg178His)
|
rs762267535
|
0.00008
|
NM_000152.5(GAA):c.853C>T (p.Pro285Ser)
|
rs886042086
|
0.00008
|
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro)
|
rs199801029
|
0.00008
|
NM_000371.4(TTR):c.*143G>C
|
rs545271394
|
0.00008
|
NM_006206.6(PDGFRA):c.*479C>A
|
rs117886200
|
0.00008
|
NM_032578.4(MYPN):c.2876G>A (p.Gly959Asp)
|
rs771893315
|
0.00008
|
NM_032578.4(MYPN):c.3075+10C>G
|
rs1230004902
|
0.00008
|
NM_032578.4(MYPN):c.3793+4A>G
|
rs145946587
|
0.00008
|
NM_032578.4(MYPN):c.757G>C (p.Gly253Arg)
|
rs201983087
|
0.00008
|
NM_000152.5(GAA):c.1048G>A (p.Val350Met)
|
rs200412003
|
0.00007
|
NM_000152.5(GAA):c.1392G>C (p.Arg464Ser)
|
rs372786811
|
0.00007
|
NM_000152.5(GAA):c.1504A>G (p.Met502Val)
|
rs376067362
|
0.00007
|
NM_000152.5(GAA):c.1636+8C>T
|
rs572293131
|
0.00007
|
NM_000152.5(GAA):c.2157G>A (p.Ala719=)
|
rs201523530
|
0.00007
|
NM_000152.5(GAA):c.2189+10C>T
|
rs750905127
|
0.00007
|
NM_000152.5(GAA):c.658G>T (p.Val220Leu)
|
rs530478036
|
0.00007
|
NM_000152.5(GAA):c.857C>T (p.Thr286Met)
|
rs375310352
|
0.00007
|
NM_000363.5(TNNI3):c.373-4C>G
|
rs2288530
|
0.00007
|
NM_000371.4(TTR):c.280G>C (p.Asp94His)
|
rs730881164
|
0.00007
|
NM_001276345.2(TNNT2):c.52+7G>A
|
rs374443596
|
0.00007
|
NM_001276345.2(TNNT2):c.762G>T (p.Glu254Asp)
|
rs45466197
|
0.00007
|
NM_032578.4(MYPN):c.140C>T (p.Pro47Leu)
|
rs777446804
|
0.00007
|
NM_032578.4(MYPN):c.185A>C (p.Asp62Ala)
|
rs370768715
|
0.00007
|
NM_032578.4(MYPN):c.251A>G (p.Asn84Ser)
|
rs768968410
|
0.00007
|
NM_032578.4(MYPN):c.2642A>T (p.Asn881Ile)
|
rs71584493
|
0.00007
|
NM_032578.4(MYPN):c.3065C>G (p.Ala1022Gly)
|
rs773991025
|
0.00007
|
NM_032578.4(MYPN):c.3103A>G (p.Met1035Val)
|
rs201975081
|
0.00007
|
NM_032578.4(MYPN):c.420T>C (p.Tyr140=)
|
rs71578990
|
0.00007
|
NM_032578.4(MYPN):c.660G>A (p.Arg220=)
|
rs372218308
|
0.00007
|
NM_181703.4(GJA5):c.592G>A (p.Val198Ile)
|
rs371086800
|
0.00007
|
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter)
|
rs104894419
|
0.00007
|
NM_000152.5(GAA):c.1124G>A (p.Arg375His)
|
rs142752477
|
0.00006
|
NM_000152.5(GAA):c.1143C>T (p.Thr381=)
|
rs111832449
|
0.00006
|
NM_000152.5(GAA):c.1195-15G>A
|
rs373840229
|
0.00006
|
NM_000152.5(GAA):c.1356C>T (p.Ala452=)
|
rs757893858
|
0.00006
|
NM_000152.5(GAA):c.1725C>T (p.Tyr575=)
|
rs112517802
|
0.00006
|
NM_000152.5(GAA):c.1754+17G>A
|
rs769797291
|
0.00006
|
NM_000152.5(GAA):c.1823G>A (p.Arg608Gln)
|
rs377126280
|
0.00006
|
NM_000152.5(GAA):c.197G>A (p.Arg66Gln)
|
rs200202628
|
0.00006
|
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu)
|
rs147327209
|
0.00006
|
NM_000152.5(GAA):c.2456G>A (p.Arg819Gln)
|
rs374687883
|
0.00006
|
NM_000152.5(GAA):c.266G>A (p.Arg89His)
|
rs200586324
|
0.00006
|
NM_000152.5(GAA):c.2800-11C>G
|
rs374571499
|
0.00006
|
NM_000152.5(GAA):c.318C>T (p.Arg106=)
|
rs762542246
|
0.00006
|
NM_000152.5(GAA):c.359C>G (p.Ala120Gly)
|
rs779208773
|
0.00006
|
NM_000152.5(GAA):c.420C>A (p.Asn140Lys)
|
rs560661191
|
0.00006
|
NM_000152.5(GAA):c.43G>A (p.Val15Ile)
|
rs772157487
|
0.00006
|
NM_000152.5(GAA):c.55G>A (p.Val19Met)
|
rs200343198
|
0.00006
|
NM_000152.5(GAA):c.655G>A (p.Gly219Arg)
|
rs370950728
|
0.00006
|
NM_000152.5(GAA):c.693-5C>T
|
rs763538104
|
0.00006
|
NM_000152.5(GAA):c.761C>T (p.Ser254Leu)
|
rs577915581
|
0.00006
|
NM_000152.5(GAA):c.858+15G>A
|
rs754760986
|
0.00006
|
NM_000152.5(GAA):c.858+24G>C
|
rs770608668
|
0.00006
|
NM_000152.5(GAA):c.862G>A (p.Gly288Ser)
|
rs200125735
|
0.00006
|
NM_000152.5(GAA):c.953T>C (p.Met318Thr)
|
rs121907936
|
0.00006
|
NM_000152.5(GAA):c.955+15G>A
|
rs778687044
|
0.00006
|
NM_000157.4(GBA1):c.115+1G>A
|
rs104886460
|
0.00006
|
NM_000157.4(GBA1):c.1495G>A (p.Val499Met)
|
rs369068553
|
0.00006
|
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys)
|
rs80356771
|
0.00006
|
NM_000157.4(GBA1):c.1604G>A (p.Arg535His)
|
rs75822236
|
0.00006
|
NM_000157.4(GBA1):c.84dup (p.Leu29fs)
|
rs387906315
|
0.00006
|
NM_000203.5(IDUA):c.923T>C (p.Leu308Pro)
|
rs752337969
|
0.00006
|
NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser)
|
rs727503244
|
0.00006
|
NM_000363.5(TNNI3):c.139T>C (p.Leu47=)
|
rs587780967
|
0.00006
|
NM_000363.5(TNNI3):c.356C>A (p.Thr119Asn)
|
rs184709702
|
0.00006
|
NM_000371.4(TTR):c.355G>A (p.Asp119Asn)
|
rs76410435
|
0.00006
|
NM_000371.4(TTR):c.411C>T (p.Ser137=)
|
rs759874627
|
0.00006
|
NM_001267550.2(TTN):c.83272T>C (p.Phe27758Leu)
|
rs188323108
|
0.00006
|
NM_001276345.2(TNNT2):c.114G>A (p.Ala38=)
|
rs200283086
|
0.00006
|
NM_001276345.2(TNNT2):c.295-14C>T
|
rs747477576
|
0.00006
|
NM_001276345.2(TNNT2):c.430C>A (p.Arg144=)
|
rs45525839
|
0.00006
|
NM_001276345.2(TNNT2):c.489+18C>T
|
rs377743847
|
0.00006
|
NM_001276345.2(TNNT2):c.601-8C>T
|
rs397516475
|
0.00006
|
NM_001276345.2(TNNT2):c.90C>T (p.Asp30=)
|
rs727503515
|
0.00006
|
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln)
|
rs121913502
|
0.00006
|
NM_006172.4(NPPA):c.253G>A (p.Gly85Arg)
|
rs749353276
|
0.00006
|
NM_006206.6(PDGFRA):c.*1971C>T
|
rs886059459
|
0.00006
|
NM_006206.6(PDGFRA):c.*2110C>T
|
rs777478254
|
0.00006
|
NM_006206.6(PDGFRA):c.*2465A>G
|
rs78148538
|
0.00006
|
NM_006206.6(PDGFRA):c.*936A>C
|
rs886059452
|
0.00006
|
NM_006206.6(PDGFRA):c.2742G>C (p.Arg914=)
|
rs56384252
|
0.00006
|
NM_006206.6(PDGFRA):c.827C>T (p.Thr276Met)
|
rs142492533
|
0.00006
|
NM_006206.6(PDGFRA):c.896T>C (p.Val299Ala)
|
rs200033396
|
0.00006
|
NM_032578.4(MYPN):c.1046C>A (p.Thr349Lys)
|
rs763819518
|
0.00006
|
NM_032578.4(MYPN):c.1103G>A (p.Gly368Asp)
|
rs555527385
|
0.00006
|
NM_032578.4(MYPN):c.1130+3A>C
|
rs770005365
|
0.00006
|
NM_032578.4(MYPN):c.1466G>A (p.Arg489Gln)
|
rs141031460
|
0.00006
|
NM_032578.4(MYPN):c.1757A>G (p.Asn586Ser)
|
rs550455783
|
0.00006
|
NM_032578.4(MYPN):c.1839C>T (p.Ser613=)
|
rs140063470
|
0.00006
|
NM_032578.4(MYPN):c.1851G>A (p.Val617=)
|
rs751087472
|
0.00006
|
NM_032578.4(MYPN):c.1890G>A (p.Glu630=)
|
rs201960380
|
0.00006
|
NM_032578.4(MYPN):c.2507C>T (p.Ser836Phe)
|
rs376141715
|
0.00006
|
NM_032578.4(MYPN):c.2540G>T (p.Gly847Val)
|
rs181848049
|
0.00006
|
NM_032578.4(MYPN):c.2974T>G (p.Cys992Gly)
|
rs367955895
|
0.00006
|
NM_032578.4(MYPN):c.3440T>A (p.Ile1147Asn)
|
rs201600440
|
0.00006
|
NM_032578.4(MYPN):c.3493+10G>T
|
rs780545084
|
0.00006
|
NM_032578.4(MYPN):c.3763G>A (p.Val1255Met)
|
rs750655311
|
0.00006
|
NM_032578.4(MYPN):c.3886T>A (p.Ser1296Thr)
|
rs199585352
|
0.00006
|
NM_032578.4(MYPN):c.597C>T (p.Phe199=)
|
rs778049757
|
0.00006
|
NM_181703.4(GJA5):c.365C>T (p.Ser122Phe)
|
rs781831348
|
0.00006
|
NM_000152.5(GAA):c.1075+20C>T
|
rs370379513
|
0.00005
|
NM_000152.5(GAA):c.1075+9T>C
|
rs751918816
|
0.00005
|
NM_000152.5(GAA):c.1409A>C (p.Asn470Thr)
|
rs144155165
|
0.00005
|
NM_000152.5(GAA):c.1425G>A (p.Pro475=)
|
rs753140491
|
0.00005
|
NM_000152.5(GAA):c.1437+19G>A
|
rs746904197
|
0.00005
|
NM_000152.5(GAA):c.1488G>A (p.Leu496=)
|
rs750777002
|
0.00005
|
NM_000152.5(GAA):c.1639G>A (p.Val547Met)
|
rs751102729
|
0.00005
|
NM_000152.5(GAA):c.1932C>T (p.Ala644=)
|
rs746194098
|
0.00005
|
NM_000152.5(GAA):c.2092G>A (p.Ala698Thr)
|
rs367632754
|
0.00005
|
NM_000152.5(GAA):c.2408A>G (p.Gln803Arg)
|
rs142487534
|
0.00005
|
NM_000152.5(GAA):c.2418G>A (p.Thr806=)
|
rs371528938
|
0.00005
|
NM_000152.5(GAA):c.2481+15C>T
|
rs771155956
|
0.00005
|
NM_000152.5(GAA):c.249C>T (p.Asp83=)
|
rs377351519
|
0.00005
|
NM_000152.5(GAA):c.2510G>A (p.Arg837His)
|
rs746095374
|
0.00005
|
NM_000152.5(GAA):c.2581G>A (p.Asp861Asn)
|
rs372604133
|
0.00005
|
NM_000152.5(GAA):c.2672G>A (p.Arg891His)
|
rs199524847
|
0.00005
|
NM_000152.5(GAA):c.2725G>A (p.Val909Met)
|
rs138407065
|
0.00005
|
NM_000152.5(GAA):c.408C>T (p.Tyr136=)
|
rs774018778
|
0.00005
|
NM_000152.5(GAA):c.510C>T (p.Asp170=)
|
rs564758226
|
0.00005
|
NM_000152.5(GAA):c.546+17C>T
|
rs529918753
|
0.00005
|
NM_000152.5(GAA):c.693-13C>G
|
rs760379754
|
0.00005
|
NM_000152.5(GAA):c.858+18G>A
|
rs747775111
|
0.00005
|
NM_000203.5(IDUA):c.1728-9C>T
|
rs374775605
|
0.00005
|
NM_000371.4(TTR):c.13C>T (p.Arg5Cys)
|
rs144792001
|
0.00005
|
NM_000371.4(TTR):c.336+18C>T
|
rs370628373
|
0.00005
|
NM_000371.4(TTR):c.385G>A (p.Ala129Thr)
|
rs267607159
|
0.00005
|
NM_000371.4(TTR):c.437A>G (p.Lys146Arg)
|
rs536294863
|
0.00005
|
NM_001276345.2(TNNT2):c.567C>T (p.Ser189=)
|
rs397516474
|
0.00005
|
NM_001276345.2(TNNT2):c.863G>A (p.Arg288His)
|
rs397516484
|
0.00005
|
NM_001276345.2(TNNT2):c.864C>T (p.Arg288=)
|
rs45503195
|
0.00005
|
NM_001276345.2(TNNT2):c.887G>A (p.Arg296His)
|
rs141121678
|
0.00005
|
NM_006206.6(PDGFRA):c.*2079A>G
|
rs187487079
|
0.00005
|
NM_032578.4(MYPN):c.1245+16C>T
|
rs377456805
|
0.00005
|
NM_032578.4(MYPN):c.1536C>T (p.Cys512=)
|
rs569718340
|
0.00005
|
NM_032578.4(MYPN):c.1858A>G (p.Thr620Ala)
|
rs144031245
|
0.00005
|
NM_032578.4(MYPN):c.2093A>G (p.Asn698Ser)
|
rs181355189
|
0.00005
|
NM_032578.4(MYPN):c.2654G>A (p.Arg885Gln)
|
rs370657396
|
0.00005
|
NM_032578.4(MYPN):c.2925+20A>C
|
rs200111945
|
0.00005
|
NM_032578.4(MYPN):c.3357C>T (p.His1119=)
|
rs766405779
|
0.00005
|
NM_032578.4(MYPN):c.3456C>T (p.Thr1152=)
|
rs202183926
|
0.00005
|
NM_032578.4(MYPN):c.3582C>T (p.Arg1194=)
|
rs139820597
|
0.00005
|
NM_181703.4(GJA5):c.199G>A (p.Asp67Asn)
|
rs150906806
|
0.00005
|
NM_206937.2(LIG4):c.1882C>T (p.Arg628Trp)
|
rs755708095
|
0.00005
|
NM_206937.2(LIG4):c.381G>C (p.Met127Ile)
|
rs61752350
|
0.00005
|
NM_000152.5(GAA):c.*264G>A
|
rs1219851042
|
0.00004
|
NM_000152.5(GAA):c.1188C>G (p.Phe396Leu)
|
rs756126944
|
0.00004
|
NM_000152.5(GAA):c.1198G>A (p.Val400Ile)
|
rs758334520
|
0.00004
|
NM_000152.5(GAA):c.11G>A (p.Arg4Lys)
|
rs372147077
|
0.00004
|
NM_000152.5(GAA):c.1245G>A (p.Thr415=)
|
rs760920034
|
0.00004
|
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys)
|
rs770610356
|
0.00004
|
NM_000152.5(GAA):c.138C>T (p.Ser46=)
|
rs753375900
|
0.00004
|
NM_000152.5(GAA):c.1416C>T (p.Thr472=)
|
rs368492669
|
0.00004
|
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu)
|
rs148842275
|
0.00004
|
NM_000152.5(GAA):c.1491C>T (p.Ala497=)
|
rs373993015
|
0.00004
|
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter)
|
rs140826989
|
0.00004
|
NM_000152.5(GAA):c.1629C>T (p.Tyr543=)
|
rs372193105
|
0.00004
|
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro)
|
rs779556619
|
0.00004
|
NM_000152.5(GAA):c.1710C>T (p.Asn570=)
|
rs765362308
|
0.00004
|
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer)
|
rs781088002
|
0.00004
|
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr)
|
rs144731405
|
0.00004
|
NM_000152.5(GAA):c.1888+8C>T
|
rs772887194
|
0.00004
|
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu)
|
rs28940868
|
0.00004
|
NM_000152.5(GAA):c.196C>T (p.Arg66Trp)
|
rs371971763
|
0.00004
|
NM_000152.5(GAA):c.2151C>T (p.His717=)
|
rs758725073
|
0.00004
|
NM_000152.5(GAA):c.2330C>T (p.Thr777Met)
|
rs746779016
|
0.00004
|
NM_000152.5(GAA):c.2331G>A (p.Thr777=)
|
rs375311693
|
0.00004
|
NM_000152.5(GAA):c.2423C>T (p.Pro808Leu)
|
rs773498009
|
0.00004
|
NM_000152.5(GAA):c.246C>T (p.Cys82=)
|
rs749584846
|
0.00004
|
NM_000152.5(GAA):c.2647-6G>T
|
rs201525743
|
0.00004
|
NM_000152.5(GAA):c.2656G>A (p.Val886Met)
|
rs372802420
|
0.00004
|
NM_000152.5(GAA):c.2671C>T (p.Arg891Cys)
|
rs377249041
|
0.00004
|
NM_000152.5(GAA):c.502C>T (p.Arg168Trp)
|
rs777473001
|
0.00004
|
NM_000152.5(GAA):c.618C>T (p.Ser206=)
|
rs146292898
|
0.00004
|
NM_000152.5(GAA):c.643G>A (p.Glu215Lys)
|
rs201286896
|
0.00004
|
NM_000152.5(GAA):c.762G>A (p.Ser254=)
|
rs533960093
|
0.00004
|
NM_000152.5(GAA):c.781G>A (p.Ala261Thr)
|
rs543360994
|
0.00004
|
NM_000152.5(GAA):c.784G>A (p.Glu262Lys)
|
rs201896815
|
0.00004
|
NM_000152.5(GAA):c.858+17C>T
|
rs371980868
|
0.00004
|
NM_000152.5(GAA):c.861C>T (p.Pro287=)
|
rs778580823
|
0.00004
|
NM_000152.5(GAA):c.912C>T (p.Gly304=)
|
rs368741815
|
0.00004
|
NM_000157.4(GBA1):c.1455A>G (p.Ala485=)
|
rs199928507
|
0.00004
|
NM_000157.4(GBA1):c.887G>A (p.Arg296Gln)
|
rs78973108
|
0.00004
|
NM_000157.4(GBA1):c.928A>G (p.Ser310Gly)
|
rs1057942
|
0.00004
|
NM_000203.5(IDUA):c.1855C>T (p.Arg619Ter)
|
rs121965031
|
0.00004
|
NM_000203.5(IDUA):c.299+1313del
|
rs778770773
|
0.00004
|
NM_000203.5(IDUA):c.340C>A (p.Leu114Met)
|
rs372934646
|
0.00004
|
NM_000203.5(IDUA):c.793-1G>A
|
rs762779421
|
0.00004
|
NM_000363.5(TNNI3):c.*35C>T
|
rs375447438
|
0.00004
|
NM_000363.5(TNNI3):c.*44A>G
|
rs1182120462
|
0.00004
|
NM_000363.5(TNNI3):c.292C>T (p.Arg98Ter)
|
rs730881068
|
0.00004
|
NM_000363.5(TNNI3):c.372+7C>T
|
rs367809676
|
0.00004
|
NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln)
|
rs397516347
|
0.00004
|
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp)
|
rs368861241
|
0.00004
|
NM_000371.4(TTR):c.148G>A (p.Val50Met)
|
rs28933979
|
0.00004
|
NM_000371.4(TTR):c.262A>T (p.Ile88Leu)
|
rs121918085
|
0.00004
|
NM_000371.4(TTR):c.361G>A (p.Gly121Ser)
|
rs755337715
|
0.00004
|
NM_000371.4(TTR):c.375C>T (p.Tyr125=)
|
rs749079577
|
0.00004
|
NM_000371.4(TTR):c.386C>T (p.Ala129Val)
|
rs121918092
|
0.00004
|
NM_001276345.2(TNNT2):c.*39C>T
|
rs553116893
|
0.00004
|
NM_001276345.2(TNNT2):c.10A>C (p.Ile4Leu)
|
rs139705141
|
0.00004
|
NM_001276345.2(TNNT2):c.248A>G (p.Asn83Ser)
|
rs397516450
|
0.00004
|
NM_001276345.2(TNNT2):c.403G>A (p.Asp135Asn)
|
rs765359025
|
0.00004
|
NM_001276345.2(TNNT2):c.461G>A (p.Arg154Gln)
|
rs745632066
|
0.00004
|
NM_001276345.2(TNNT2):c.52+13G>A
|
rs376820377
|
0.00004
|
NM_001276345.2(TNNT2):c.601-7G>A
|
rs369759523
|
0.00004
|
NM_001276345.2(TNNT2):c.706G>A (p.Glu236Lys)
|
rs730881107
|
0.00004
|
NM_001276345.2(TNNT2):c.720-13C>G
|
rs377714587
|
0.00004
|
NM_001276345.2(TNNT2):c.720-5T>G
|
rs730881092
|
0.00004
|
NM_001276345.2(TNNT2):c.720-7C>T
|
rs376303087
|
0.00004
|
NM_001276345.2(TNNT2):c.779T>C (p.Leu260Pro)
|
rs376037051
|
0.00004
|
NM_001276345.2(TNNT2):c.810+5G>A
|
rs730881113
|
0.00004
|
NM_001276345.2(TNNT2):c.882C>T (p.Thr294=)
|
rs45465693
|
0.00004
|
NM_005159.4(ACTC1):c.*1318T>G
|
rs759530643
|
0.00004
|
NM_005681.4(TAF1A):c.1021G>A (p.Gly341Arg)
|
rs765321518
|
0.00004
|
NM_006172.4(NPPA):c.319C>T (p.Arg107Ter)
|
rs772104828
|
0.00004
|
NM_006206.6(PDGFRA):c.*1809G>C
|
rs565989173
|
0.00004
|
NM_006206.6(PDGFRA):c.*1939T>C
|
rs368579295
|
0.00004
|
NM_006206.6(PDGFRA):c.*2111G>A
|
rs554089461
|
0.00004
|
NM_006206.6(PDGFRA):c.*2256G>T
|
rs544503522
|
0.00004
|
NM_006206.6(PDGFRA):c.*72C>A
|
rs886059449
|
0.00004
|
NM_006206.6(PDGFRA):c.1274A>G (p.His425Arg)
|
rs769631321
|
0.00004
|
NM_006206.6(PDGFRA):c.1450G>A (p.Val484Met)
|
rs149031291
|
0.00004
|
NM_006206.6(PDGFRA):c.1970T>C (p.Ile657Thr)
|
rs969139366
|
0.00004
|
NM_006206.6(PDGFRA):c.2897A>G (p.His966Arg)
|
rs200042995
|
0.00004
|
NM_006206.6(PDGFRA):c.3039C>T (p.Ser1013=)
|
rs138150216
|
0.00004
|
NM_006206.6(PDGFRA):c.838G>T (p.Ala280Ser)
|
rs150927351
|
0.00004
|
NM_032578.4(MYPN):c.1229T>C (p.Val410Ala)
|
rs199476406
|
0.00004
|
NM_032578.4(MYPN):c.1518T>G (p.Phe506Leu)
|
rs780297988
|
0.00004
|
NM_032578.4(MYPN):c.1560A>G (p.Lys520=)
|
rs199809622
|
0.00004
|
NM_032578.4(MYPN):c.1789C>T (p.Arg597Cys)
|
rs367570424
|
0.00004
|
NM_032578.4(MYPN):c.1936G>A (p.Val646Met)
|
rs772535532
|
0.00004
|
NM_032578.4(MYPN):c.194C>T (p.Ala65Val)
|
rs147553723
|
0.00004
|
NM_032578.4(MYPN):c.1973+10A>T
|
rs756078237
|
0.00004
|
NM_032578.4(MYPN):c.2105C>T (p.Ala702Val)
|
rs144822514
|
0.00004
|
NM_032578.4(MYPN):c.2106G>A (p.Ala702=)
|
rs560387426
|
0.00004
|
NM_032578.4(MYPN):c.2133G>A (p.Lys711=)
|
rs370032844
|
0.00004
|
NM_032578.4(MYPN):c.2199C>T (p.Thr733=)
|
rs778525926
|
0.00004
|
NM_032578.4(MYPN):c.2565-7C>T
|
rs373241021
|
0.00004
|
NM_032578.4(MYPN):c.2709C>T (p.Tyr903=)
|
rs772657844
|
0.00004
|
NM_032578.4(MYPN):c.3272G>A (p.Arg1091Gln)
|
rs768452699
|
0.00004
|
NM_032578.4(MYPN):c.3305C>T (p.Pro1102Leu)
|
rs201693405
|
0.00004
|
NM_032578.4(MYPN):c.3416G>A (p.Arg1139His)
|
rs531222847
|
0.00004
|
NM_032578.4(MYPN):c.3420C>T (p.Asp1140=)
|
rs200786762
|
0.00004
|
NM_032578.4(MYPN):c.3438C>T (p.Cys1146=)
|
rs369746212
|
0.00004
|
NM_032578.4(MYPN):c.3659+14C>T
|
rs370172180
|
0.00004
|
NM_032578.4(MYPN):c.3720C>T (p.Asp1240=)
|
rs146280945
|
0.00004
|
NM_032578.4(MYPN):c.3756C>T (p.Ala1252=)
|
rs765512505
|
0.00004
|
NM_032578.4(MYPN):c.578A>G (p.Gln193Arg)
|
rs573684358
|
0.00004
|
NM_032578.4(MYPN):c.782A>G (p.Tyr261Cys)
|
rs148034353
|
0.00004
|
NM_181703.4(GJA5):c.1068A>G (p.Leu356=)
|
rs886045250
|
0.00004
|
NM_181703.4(GJA5):c.317G>T (p.Arg106Leu)
|
rs367924086
|
0.00004
|
NM_181703.4(GJA5):c.377C>T (p.Pro126Leu)
|
rs782780433
|
0.00004
|
NM_181703.4(GJA5):c.724C>T (p.Arg242Trp)
|
rs782417838
|
0.00004
|
NM_181703.4(GJA5):c.974A>G (p.Asn325Ser)
|
rs145523099
|
0.00004
|
NM_000152.5(GAA):c.-32-5C>T
|
rs775682001
|
0.00003
|
NM_000152.5(GAA):c.1059G>A (p.Gln353=)
|
rs376146090
|
0.00003
|
NM_000152.5(GAA):c.1075+12T>G
|
rs370842677
|
0.00003
|
NM_000152.5(GAA):c.1129G>C (p.Gly377Arg)
|
rs752002666
|
0.00003
|
NM_000152.5(GAA):c.1153C>T (p.Arg385Cys)
|
rs767821988
|
0.00003
|
NM_000152.5(GAA):c.1264C>T (p.Arg422Trp)
|
rs776704385
|
0.00003
|
NM_000152.5(GAA):c.1316T>A (p.Met439Lys)
|
rs747610090
|
0.00003
|
NM_000152.5(GAA):c.1326+1G>A
|
rs1205507761
|
0.00003
|
NM_000152.5(GAA):c.1411G>A (p.Glu471Lys)
|
rs189402693
|
0.00003
|
NM_000152.5(GAA):c.1417G>A (p.Gly473Ser)
|
rs201409613
|
0.00003
|
NM_000152.5(GAA):c.1437+8G>A
|
rs779194427
|
0.00003
|
NM_000152.5(GAA):c.1636+10C>A
|
rs778634411
|
0.00003
|
NM_000152.5(GAA):c.1661C>T (p.Ala554Val)
|
rs772260861
|
0.00003
|
NM_000152.5(GAA):c.1754+16C>T
|
rs369836797
|
0.00003
|
NM_000152.5(GAA):c.17C>T (p.Pro6Leu)
|
rs771409180
|
0.00003
|
NM_000152.5(GAA):c.1803G>A (p.Ser601=)
|
rs368993048
|
0.00003
|
NM_000152.5(GAA):c.1819G>A (p.Gly607Ser)
|
rs940955642
|
0.00003
|
NM_000152.5(GAA):c.1849G>A (p.Val617Met)
|
rs767977395
|
0.00003
|
NM_000152.5(GAA):c.18G>C (p.Pro6=)
|
rs774703637
|
0.00003
|
NM_000152.5(GAA):c.1909C>A (p.Leu637Met)
|
rs763301606
|
0.00003
|
NM_000152.5(GAA):c.1930G>T (p.Ala644Ser)
|
rs752735168
|
0.00003
|
NM_000152.5(GAA):c.1941C>G (p.Cys647Trp)
|
rs776948121
|
0.00003
|
NM_000152.5(GAA):c.2069C>T (p.Pro690Leu)
|
rs532624326
|
0.00003
|
NM_000152.5(GAA):c.2105G>A (p.Arg702His)
|
rs398123172
|
0.00003
|
NM_000152.5(GAA):c.2132C>G (p.Thr711Arg)
|
rs759292700
|
0.00003
|
NM_000152.5(GAA):c.2154C>T (p.Val718=)
|
rs1800311
|
0.00003
|
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp)
|
rs121907938
|
0.00003
|
NM_000152.5(GAA):c.2190-4G>A
|
rs759974338
|
0.00003
|
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys)
|
rs144016984
|
0.00003
|
NM_000152.5(GAA):c.2365C>G (p.Pro789Ala)
|
rs201485261
|
0.00003
|
NM_000152.5(GAA):c.2455C>T (p.Arg819Trp)
|
rs61736895
|
0.00003
|
NM_000152.5(GAA):c.2481+14G>A
|
rs749667983
|
0.00003
|
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter)
|
rs780321415
|
0.00003
|
NM_000152.5(GAA):c.2609G>A (p.Arg870Gln)
|
rs747076541
|
0.00003
|
NM_000152.5(GAA):c.2739C>G (p.Pro913=)
|
rs370765733
|
0.00003
|
NM_000152.5(GAA):c.2757C>T (p.Asn919=)
|
rs766916186
|
0.00003
|
NM_000152.5(GAA):c.2758G>A (p.Gly920Ser)
|
rs375021198
|
0.00003
|
NM_000152.5(GAA):c.277G>A (p.Ala93Thr)
|
rs142481170
|
0.00003
|
NM_000152.5(GAA):c.2799+4A>G
|
rs778032599
|
0.00003
|
NM_000152.5(GAA):c.292A>T (p.Ile98Phe)
|
rs745963730
|
0.00003
|
NM_000152.5(GAA):c.307T>G (p.Cys103Gly)
|
rs398123174
|
0.00003
|
NM_000152.5(GAA):c.319G>A (p.Gly107Ser)
|
rs151323405
|
0.00003
|
NM_000152.5(GAA):c.31C>T (p.Arg11Trp)
|
rs772394815
|
0.00003
|
NM_000152.5(GAA):c.351G>A (p.Leu117=)
|
rs574947353
|
0.00003
|
NM_000152.5(GAA):c.426C>A (p.Ser142Arg)
|
rs762255493
|
0.00003
|
NM_000152.5(GAA):c.503G>A (p.Arg168Gln)
|
rs376685205
|
0.00003
|
NM_000152.5(GAA):c.546G>A (p.Thr182=)
|
rs143523371
|
0.00003
|
NM_000152.5(GAA):c.654C>T (p.Phe218=)
|
rs762830719
|
0.00003
|
NM_000152.5(GAA):c.686G>A (p.Arg229His)
|
rs776509432
|
0.00003
|
NM_000152.5(GAA):c.69C>T (p.Thr23=)
|
rs746351336
|
0.00003
|
NM_000152.5(GAA):c.767A>G (p.Tyr256Cys)
|
rs200509552
|
0.00003
|
NM_000152.5(GAA):c.855C>A (p.Pro285=)
|
rs754080080
|
0.00003
|
NM_000152.5(GAA):c.867G>A (p.Ala289=)
|
rs534515557
|
0.00003
|
NM_000152.5(GAA):c.877G>A (p.Gly293Arg)
|
rs121907945
|
0.00003
|
NM_000152.5(GAA):c.925G>A (p.Gly309Arg)
|
rs543300039
|
0.00003
|
NM_000152.5(GAA):c.955+14C>A
|
rs756921041
|
0.00003
|
NM_000157.4(GBA1):c.437C>T (p.Ser146Leu)
|
rs758447515
|
0.00003
|
NM_000157.4(GBA1):c.637C>T (p.Leu213Phe)
|
rs374591570
|
0.00003
|
NM_000157.4(GBA1):c.667T>C (p.Trp223Arg)
|
rs61748906
|
0.00003
|
NM_000157.4(GBA1):c.681T>G (p.Asn227Lys)
|
rs381418
|
0.00003
|
NM_000157.4(GBA1):c.762-1G>C
|
rs1237637353
|
0.00003
|
NM_000203.5(IDUA):c.1270G>A (p.Ala424Thr)
|
rs752725918
|
0.00003
|
NM_000203.5(IDUA):c.1487C>T (p.Pro496Leu)
|
rs772416503
|
0.00003
|
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg)
|
rs121965021
|
0.00003
|
NM_000203.5(IDUA):c.1614del (p.His539fs)
|
rs727503967
|
0.00003
|
NM_000203.5(IDUA):c.299+1627G>A
|
rs387907483
|
0.00003
|
NM_000258.3(MYL3):c.92G>A (p.Arg31His)
|
rs199639940
|
0.00003
|
NM_000371.4(TTR):c.-15C>T
|
rs746692906
|
0.00003
|
NM_000371.4(TTR):c.267C>T (p.Tyr89=)
|
rs757950308
|
0.00003
|
NM_000371.4(TTR):c.370C>T (p.Arg124Cys)
|
rs745834030
|
0.00003
|
NM_000371.4(TTR):c.405C>G (p.Ser135=)
|
rs760153126
|
0.00003
|
NM_000371.4(TTR):c.431A>G (p.Asn144Ser)
|
rs144965179
|
0.00003
|
NM_000371.4(TTR):c.70-20C>T
|
rs773578107
|
0.00003
|
NM_000371.4(TTR):c.70-9T>C
|
rs764059061
|
0.00003
|
NM_001100.4(ACTA1):c.435C>T (p.Tyr145=)
|
rs371410845
|
0.00003
|
NM_001100.4(ACTA1):c.809-14_809-13insA
|
rs749384329
|
0.00003
|
NM_001267550.2(TTN):c.68390C>T (p.Pro22797Leu)
|
rs1371471381
|
0.00003
|
NM_001276345.2(TNNT2):c.103G>A (p.Glu35Lys)
|
rs867180029
|
0.00003
|
NM_001276345.2(TNNT2):c.164-14C>T
|
rs778709814
|
0.00003
|
NM_001276345.2(TNNT2):c.294+6C>T
|
rs758051932
|
0.00003
|
NM_001276345.2(TNNT2):c.411+6T>A
|
rs761043932
|
0.00003
|
NM_001276345.2(TNNT2):c.435C>T (p.Ala145=)
|
rs375675827
|
0.00003
|
NM_001276345.2(TNNT2):c.436G>A (p.Glu146Lys)
|
rs371142225
|
0.00003
|
NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp)
|
rs483352832
|
0.00003
|
NM_001276345.2(TNNT2):c.52+12C>T
|
rs199865577
|
0.00003
|
NM_001276345.2(TNNT2):c.552G>A (p.Lys184=)
|
rs566113559
|
0.00003
|
NM_001276345.2(TNNT2):c.601-6G>A
|
rs760197357
|
0.00003
|
NM_001276345.2(TNNT2):c.609+3G>A
|
rs997358710
|
0.00003
|
NM_001276345.2(TNNT2):c.617G>A (p.Arg206Gln)
|
rs371047521
|
0.00003
|
NM_001276345.2(TNNT2):c.691A>G (p.Ile231Val)
|
rs886045828
|
0.00003
|
NM_001276345.2(TNNT2):c.721G>C (p.Glu241Gln)
|
rs1189945246
|
0.00003
|
NM_001276345.2(TNNT2):c.810+6C>T
|
rs727504260
|
0.00003
|
NM_001276345.2(TNNT2):c.883G>A (p.Gly295Arg)
|
rs147940106
|
0.00003
|
NM_001276345.2(TNNT2):c.96C>T (p.Asp32=)
|
rs751728017
|
0.00003
|
NM_005475.3(SH2B3):c.1087C>T (p.Pro363Ser)
|
rs1029296641
|
0.00003
|
NM_006206.6(PDGFRA):c.1891C>T (p.Pro631Ser)
|
rs199902153
|
0.00003
|
NM_032578.4(MYPN):c.1013G>A (p.Arg338His)
|
rs149852773
|
0.00003
|
NM_032578.4(MYPN):c.1272G>A (p.Gln424=)
|
rs769175475
|
0.00003
|
NM_032578.4(MYPN):c.1564G>A (p.Gly522Ser)
|
rs951303629
|
0.00003
|
NM_032578.4(MYPN):c.1724A>G (p.Lys575Arg)
|
rs1346961662
|
0.00003
|
NM_032578.4(MYPN):c.1899C>T (p.Asn633=)
|
rs147500426
|
0.00003
|
NM_032578.4(MYPN):c.2150C>T (p.Thr717Met)
|
rs141276802
|
0.00003
|
NM_032578.4(MYPN):c.2156G>C (p.Ser719Thr)
|
rs780584298
|
0.00003
|
NM_032578.4(MYPN):c.2429G>A (p.Arg810His)
|
rs1021994218
|
0.00003
|
NM_032578.4(MYPN):c.2644G>A (p.Ala882Thr)
|
rs199476411
|
0.00003
|
NM_032578.4(MYPN):c.2881C>G (p.Pro961Ala)
|
rs139996402
|
0.00003
|
NM_032578.4(MYPN):c.2972A>G (p.His991Arg)
|
rs181021602
|
0.00003
|
NM_032578.4(MYPN):c.3006C>T (p.Cys1002=)
|
rs1321971649
|
0.00003
|
NM_032578.4(MYPN):c.3125G>A (p.Arg1042His)
|
rs140439935
|
0.00003
|
NM_032578.4(MYPN):c.3228G>T (p.Leu1076=)
|
rs746111226
|
0.00003
|
NM_032578.4(MYPN):c.3417C>T (p.Arg1139=)
|
rs144488384
|
0.00003
|
NM_032578.4(MYPN):c.3441C>T (p.Ile1147=)
|
rs759420426
|
0.00003
|
NM_032578.4(MYPN):c.3552C>T (p.Pro1184=)
|
rs749396604
|
0.00003
|
NM_032578.4(MYPN):c.3591C>A (p.Gly1197=)
|
rs876657538
|
0.00003
|
NM_032578.4(MYPN):c.3653G>A (p.Arg1218Lys)
|
rs768630077
|
0.00003
|
NM_032578.4(MYPN):c.3837C>T (p.Pro1279=)
|
rs774279751
|
0.00003
|
NM_032578.4(MYPN):c.519T>G (p.Ile173Met)
|
rs769771296
|
0.00003
|
NM_032578.4(MYPN):c.650C>T (p.Ala217Val)
|
rs199476403
|
0.00003
|
NM_032578.4(MYPN):c.714G>A (p.Ala238=)
|
rs757661676
|
0.00003
|
NM_032578.4(MYPN):c.890C>T (p.Pro297Leu)
|
rs138187845
|
0.00003
|
NM_181703.4(GJA5):c.864C>T (p.Ala288=)
|
rs1384966203
|
0.00003
|
NM_000152.5(GAA):c.1053G>T (p.Val351=)
|
rs773063199
|
0.00002
|
NM_000152.5(GAA):c.1076-22T>G
|
rs762260678
|
0.00002
|
NM_000152.5(GAA):c.1083G>A (p.Pro361=)
|
rs781379047
|
0.00002
|
NM_000152.5(GAA):c.1147A>G (p.Ile383Val)
|
rs794727837
|
0.00002
|
NM_000152.5(GAA):c.1165G>A (p.Glu389Lys)
|
rs749186162
|
0.00002
|
NM_000152.5(GAA):c.1194+16_1194+18del
|
rs750576595
|
0.00002
|
NM_000152.5(GAA):c.1194+17G>T
|
rs548850587
|
0.00002
|
NM_000152.5(GAA):c.1275G>A (p.Pro425=)
|
rs762826072
|
0.00002
|
NM_000152.5(GAA):c.1307G>A (p.Arg436Gln)
|
rs748788550
|
0.00002
|
NM_000152.5(GAA):c.1378G>A (p.Glu460Lys)
|
rs771213237
|
0.00002
|
NM_000152.5(GAA):c.1387C>T (p.Arg463Trp)
|
rs199748889
|
0.00002
|
NM_000152.5(GAA):c.1388G>A (p.Arg463Gln)
|
rs886053545
|
0.00002
|
NM_000152.5(GAA):c.1437+6G>A
|
rs754249803
|
0.00002
|
NM_000152.5(GAA):c.1438-11T>A
|
rs376247021
|
0.00002
|
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg)
|
rs772883420
|
0.00002
|
NM_000152.5(GAA):c.1544T>C (p.Met515Thr)
|
rs1338245575
|
0.00002
|
NM_000152.5(GAA):c.1554C>T (p.Asp518=)
|
rs745482879
|
0.00002
|
NM_000152.5(GAA):c.1560C>T (p.Asn520=)
|
rs116322271
|
0.00002
|
NM_000152.5(GAA):c.1634C>T (p.Pro545Leu)
|
rs121907942
|
0.00002
|
NM_000152.5(GAA):c.1637-17G>A
|
rs1031721446
|
0.00002
|
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys)
|
rs765362308
|
0.00002
|
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys)
|
rs991082382
|
0.00002
|
NM_000152.5(GAA):c.1798C>T (p.Arg600Cys)
|
rs764670084
|
0.00002
|
NM_000152.5(GAA):c.1815C>T (p.Gly605=)
|
rs756507404
|
0.00002
|
NM_000152.5(GAA):c.1831G>A (p.Gly611Ser)
|
rs1278340100
|
0.00002
|
NM_000152.5(GAA):c.1881C>T (p.Ser627=)
|
rs779328815
|
0.00002
|
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp)
|
rs757617999
|
0.00002
|
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg)
|
rs28937909
|
0.00002
|
NM_000152.5(GAA):c.1929G>A (p.Gly643=)
|
rs371096565
|
0.00002
|
NM_000152.5(GAA):c.1936G>A (p.Val646Ile)
|
rs770029932
|
0.00002
|
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln)
|
rs778418246
|
0.00002
|
NM_000152.5(GAA):c.2164A>T (p.Thr722Ser)
|
rs774307734
|
0.00002
|
NM_000152.5(GAA):c.216C>T (p.Pro72=)
|
rs753287841
|
0.00002
|
NM_000152.5(GAA):c.2331+16C>T
|
rs762495996
|
0.00002
|
NM_000152.5(GAA):c.2404G>A (p.Gly802Arg)
|
rs148412962
|
0.00002
|
NM_000152.5(GAA):c.2407C>T (p.Gln803Ter)
|
rs1344266804
|
0.00002
|
NM_000152.5(GAA):c.240A>G (p.Thr80=)
|
rs778124725
|
0.00002
|
NM_000152.5(GAA):c.2444A>G (p.Asn815Ser)
|
rs1365945556
|
0.00002
|
NM_000152.5(GAA):c.2445C>T (p.Asn815=)
|
rs755846997
|
0.00002
|
NM_000152.5(GAA):c.2458G>T (p.Ala820Ser)
|
rs745378120
|
0.00002
|
NM_000152.5(GAA):c.2482-19C>T
|
rs750055374
|
0.00002
|
NM_000152.5(GAA):c.2597A>T (p.Glu866Val)
|
rs951742543
|
0.00002
|
NM_000152.5(GAA):c.2610A>G (p.Arg870=)
|
rs375831200
|
0.00002
|
NM_000152.5(GAA):c.2668G>C (p.Val890Leu)
|
rs377286472
|
0.00002
|
NM_000152.5(GAA):c.280C>A (p.Pro94Thr)
|
rs749496973
|
0.00002
|
NM_000152.5(GAA):c.309C>T (p.Cys103=)
|
rs373307393
|
0.00002
|
NM_000152.5(GAA):c.317G>A (p.Arg106His)
|
rs772534106
|
0.00002
|
NM_000152.5(GAA):c.370C>G (p.Gln124Glu)
|
rs1291571294
|
0.00002
|
NM_000152.5(GAA):c.412C>G (p.Leu138Val)
|
rs761221259
|
0.00002
|
NM_000152.5(GAA):c.446C>T (p.Thr149Met)
|
rs750628023
|
0.00002
|
NM_000152.5(GAA):c.460C>T (p.Arg154Cys)
|
rs539841659
|
0.00002
|
NM_000152.5(GAA):c.546+2_546+6dup
|
rs753159224
|
0.00002
|
NM_000152.5(GAA):c.614C>T (p.Pro205Leu)
|
rs775065551
|
0.00002
|
NM_000152.5(GAA):c.67A>G (p.Thr23Ala)
|
rs2289537
|
0.00002
|
NM_000152.5(GAA):c.685C>T (p.Arg229Cys)
|
rs375295347
|
0.00002
|
NM_000152.5(GAA):c.687C>T (p.Arg229=)
|
rs149814041
|
0.00002
|
NM_000152.5(GAA):c.692+16T>C
|
rs774229249
|
0.00002
|
NM_000152.5(GAA):c.705G>A (p.Thr235=)
|
rs2304846
|
0.00002
|
NM_000152.5(GAA):c.72T>C (p.Ala24=)
|
rs747380728
|
0.00002
|
NM_000152.5(GAA):c.840C>G (p.Asn280Lys)
|
rs747820772
|
0.00002
|
NM_000152.5(GAA):c.858G>A (p.Thr286=)
|
rs201056962
|
0.00002
|
NM_000152.5(GAA):c.859C>T (p.Pro287Ser)
|
rs369735511
|
0.00002
|
NM_000152.5(GAA):c.866C>T (p.Ala289Val)
|
rs145903608
|
0.00002
|
NM_000152.5(GAA):c.868A>G (p.Asn290Asp)
|
rs552929702
|
0.00002
|
NM_000152.5(GAA):c.899C>T (p.Ala300Val)
|
rs1032949450
|
0.00002
|
NM_000152.5(GAA):c.924C>T (p.His308=)
|
rs370105640
|
0.00002
|
NM_000152.5(GAA):c.971C>T (p.Pro324Leu)
|
rs750030887
|
0.00002
|
NM_000152.5(GAA):c.972G>A (p.Pro324=)
|
rs763445243
|
0.00002
|
NM_000152.5(GAA):c.979G>A (p.Ala327Thr)
|
rs756562462
|
0.00002
|
NM_000157.4(GBA1):c.1346C>T (p.Thr449Met)
|
rs757930613
|
0.00002
|
NM_000157.4(GBA1):c.247C>T (p.Arg83Cys)
|
rs1141812
|
0.00002
|
NM_000157.4(GBA1):c.492C>G (p.Ser164Arg)
|
rs746019841
|
0.00002
|
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg)
|
rs409652
|
0.00002
|
NM_000157.4(GBA1):c.946C>T (p.Arg316Cys)
|
rs1264734195
|
0.00002
|
NM_000203.5(IDUA):c.112C>T (p.Arg38Cys)
|
rs950667822
|
0.00002
|
NM_000203.5(IDUA):c.1349C>A (p.Pro450His)
|
rs895626490
|
0.00002
|
NM_000203.5(IDUA):c.1727+4C>T
|
rs1202966289
|
0.00002
|
NM_000203.5(IDUA):c.1743C>G (p.Tyr581Ter)
|
rs776787370
|
0.00002
|
NM_000203.5(IDUA):c.1829-1G>A
|
rs745915863
|
0.00002
|
NM_000203.5(IDUA):c.1882C>T (p.Arg628Ter)
|
rs756572099
|
0.00002
|
NM_000203.5(IDUA):c.713T>A (p.Leu238Gln)
|
rs148789453
|
0.00002
|
NM_000203.5(IDUA):c.946G>A (p.Val316Met)
|
rs755445369
|
0.00002
|
NM_000258.3(MYL3):c.461G>A (p.Arg154His)
|
rs104893749
|
0.00002
|
NM_000363.5(TNNI3):c.151-6C>G
|
rs377258542
|
0.00002
|
NM_000363.5(TNNI3):c.283-9C>T
|
rs759922995
|
0.00002
|
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln)
|
rs397516349
|
0.00002
|
NM_000363.5(TNNI3):c.439G>C (p.Val147Leu)
|
rs777782551
|
0.00002
|
NM_000363.5(TNNI3):c.92C>T (p.Thr31Met)
|
rs201928445
|
0.00002
|
NM_000371.4(TTR):c.209G>A (p.Ser70Asn)
|
rs121918080
|
0.00002
|
NM_000371.4(TTR):c.441A>G (p.Glu147=)
|
rs370056601
|
0.00002
|
NM_000371.4(TTR):c.78T>C (p.Gly26=)
|
rs779457244
|
0.00002
|
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)
|
rs11540652
|
0.00002
|
NM_001100.4(ACTA1):c.809-16_809-15insG
|
rs746125735
|
0.00002
|
NM_001276345.2(TNNT2):c.110C>G (p.Ala37Gly)
|
rs776406819
|
0.00002
|
NM_001276345.2(TNNT2):c.260C>T (p.Pro87Leu)
|
rs144900708
|
0.00002
|
NM_001276345.2(TNNT2):c.282A>G (p.Arg94=)
|
rs397516453
|
0.00002
|
NM_001276345.2(TNNT2):c.295-13G>A
|
rs764804961
|
0.00002
|
NM_001276345.2(TNNT2):c.341C>T (p.Ala114Val)
|
rs727504245
|
0.00002
|
NM_001276345.2(TNNT2):c.34G>A (p.Glu12Lys)
|
rs760247765
|
0.00002
|
NM_001276345.2(TNNT2):c.391G>A (p.Val131Ile)
|
rs537067344
|
0.00002
|
NM_001276345.2(TNNT2):c.40G>A (p.Glu14Lys)
|
rs772890125
|
0.00002
|
NM_001276345.2(TNNT2):c.519G>A (p.Glu173=)
|
rs928898709
|
0.00002
|
NM_001276345.2(TNNT2):c.544G>T (p.Ala182Ser)
|
rs730881097
|
0.00002
|
NM_001276345.2(TNNT2):c.56C>G (p.Ala19Gly)
|
rs753645200
|
0.00002
|
NM_001276345.2(TNNT2):c.610-15T>A
|
rs950076691
|
0.00002
|
NM_001276345.2(TNNT2):c.63T>G (p.Val21=)
|
rs397516477
|
0.00002
|
NM_001276345.2(TNNT2):c.67+9C>T
|
rs201839711
|
0.00002
|
NM_001276345.2(TNNT2):c.720-6G>A
|
rs113471285
|
0.00002
|
NM_001276345.2(TNNT2):c.84A>G (p.Arg28=)
|
rs370895664
|
0.00002
|
NM_001276345.2(TNNT2):c.98-14C>T
|
rs918945214
|
0.00002
|
NM_003511.3(H2AC16):c.44C>G (p.Ala15Gly)
|
rs890521687
|
0.00002
|
NM_005159.5(ACTC1):c.-36C>G
|
rs886051091
|
0.00002
|
NM_006206.6(PDGFRA):c.*136G>A
|
rs886059450
|
0.00002
|
NM_006206.6(PDGFRA):c.1673G>A (p.Arg558His)
|
rs761924292
|
0.00002
|
NM_006206.6(PDGFRA):c.2811G>A (p.Pro937=)
|
rs190260215
|
0.00002
|
NM_017950.4(CCDC40):c.3212G>A (p.Arg1071His)
|
rs142135083
|
0.00002
|
NM_032578.4(MYPN):c.1088C>T (p.Ser363Phe)
|
rs760566381
|
0.00002
|
NM_032578.4(MYPN):c.1096T>C (p.Ser366Pro)
|
rs535795936
|
0.00002
|
NM_032578.4(MYPN):c.1105G>A (p.Asp369Asn)
|
rs764775347
|
0.00002
|
NM_032578.4(MYPN):c.1196C>T (p.Pro399Leu)
|
rs142973768
|
0.00002
|
NM_032578.4(MYPN):c.1200A>G (p.Gln400=)
|
rs768030641
|
0.00002
|
NM_032578.4(MYPN):c.1226G>A (p.Arg409His)
|
rs200352249
|
0.00002
|
NM_032578.4(MYPN):c.1317+7A>C
|
rs751723015
|
0.00002
|
NM_032578.4(MYPN):c.1483+1G>A
|
rs112016439
|
0.00002
|
NM_032578.4(MYPN):c.1483+6G>C
|
rs775382618
|
0.00002
|
NM_032578.4(MYPN):c.1593C>T (p.His531=)
|
rs138354021
|
0.00002
|
NM_032578.4(MYPN):c.1716A>C (p.Gln572His)
|
rs567930066
|
0.00002
|
NM_032578.4(MYPN):c.1737G>A (p.Glu579=)
|
rs1217740747
|
0.00002
|
NM_032578.4(MYPN):c.1803C>A (p.Asn601Lys)
|
rs1327960422
|
0.00002
|
NM_032578.4(MYPN):c.1966C>T (p.Pro656Ser)
|
rs930830802
|
0.00002
|
NM_032578.4(MYPN):c.2164C>T (p.Arg722Trp)
|
rs749716608
|
0.00002
|
NM_032578.4(MYPN):c.2189C>T (p.Thr730Met)
|
rs373040567
|
0.00002
|
NM_032578.4(MYPN):c.2240T>C (p.Leu747Ser)
|
rs758580382
|
0.00002
|
NM_032578.4(MYPN):c.2246G>A (p.Ser749Asn)
|
rs780085391
|
0.00002
|
NM_032578.4(MYPN):c.2428C>T (p.Arg810Cys)
|
rs369380120
|
0.00002
|
NM_032578.4(MYPN):c.2516C>A (p.Ala839Asp)
|
rs757190838
|
0.00002
|
NM_032578.4(MYPN):c.2695A>C (p.Asn899His)
|
rs774900760
|
0.00002
|
NM_032578.4(MYPN):c.2704-17G>A
|
rs367814057
|
0.00002
|
NM_032578.4(MYPN):c.2816C>T (p.Thr939Met)
|
rs778346244
|
0.00002
|
NM_032578.4(MYPN):c.281C>G (p.Thr94Ser)
|
rs377389861
|
0.00002
|
NM_032578.4(MYPN):c.2869A>G (p.Thr957Ala)
|
rs778178863
|
0.00002
|
NM_032578.4(MYPN):c.3039C>T (p.Asp1013=)
|
rs748080770
|
0.00002
|
NM_032578.4(MYPN):c.3105G>A (p.Met1035Ile)
|
rs764549639
|
0.00002
|
NM_032578.4(MYPN):c.3130C>T (p.Arg1044Trp)
|
rs565591812
|
0.00002
|
NM_032578.4(MYPN):c.3131G>A (p.Arg1044Gln)
|
rs142874859
|
0.00002
|
NM_032578.4(MYPN):c.3350C>T (p.Ala1117Val)
|
rs762950668
|
0.00002
|
NM_032578.4(MYPN):c.336T>C (p.Ser112=)
|
rs769858127
|
0.00002
|
NM_032578.4(MYPN):c.3394C>T (p.Leu1132Phe)
|
rs753388438
|
0.00002
|
NM_032578.4(MYPN):c.3485C>G (p.Ser1162Cys)
|
rs548754907
|
0.00002
|
NM_032578.4(MYPN):c.3628G>A (p.Glu1210Lys)
|
rs779000111
|
0.00002
|
NM_032578.4(MYPN):c.3711G>A (p.Lys1237=)
|
rs773992843
|
0.00002
|
NM_032578.4(MYPN):c.3768G>A (p.Ser1256=)
|
rs533708375
|
0.00002
|
NM_032578.4(MYPN):c.3832C>T (p.Arg1278Trp)
|
rs763054747
|
0.00002
|
NM_032578.4(MYPN):c.3911C>T (p.Thr1304Met)
|
rs749719592
|
0.00002
|
NM_032578.4(MYPN):c.3924A>G (p.Ser1308=)
|
rs1225365091
|
0.00002
|
NM_032578.4(MYPN):c.458A>G (p.Lys153Arg)
|
rs199476401
|
0.00002
|
NM_032578.4(MYPN):c.466G>A (p.Asp156Asn)
|
rs1279871963
|
0.00002
|
NM_032578.4(MYPN):c.526C>T (p.Arg176Cys)
|
rs773154410
|
0.00002
|
NM_032578.4(MYPN):c.588C>T (p.Ser196=)
|
rs753313639
|
0.00002
|
NM_032578.4(MYPN):c.641C>T (p.Pro214Leu)
|
rs1406498336
|
0.00002
|
NM_032578.4(MYPN):c.642T>C (p.Pro214=)
|
rs769861237
|
0.00002
|
NM_032578.4(MYPN):c.748A>C (p.Thr250Pro)
|
rs770824805
|
0.00002
|
NM_032578.4(MYPN):c.948C>T (p.His316=)
|
rs200674758
|
0.00002
|
NM_032578.4(MYPN):c.986C>T (p.Ala329Val)
|
rs146148277
|
0.00002
|
NM_181703.4(GJA5):c.1016G>A (p.Ser339Asn)
|
rs782195867
|
0.00002
|
NM_181703.4(GJA5):c.325C>T (p.Arg109Trp)
|
rs782392307
|
0.00002
|
NM_181703.4(GJA5):c.342C>G (p.Ala114=)
|
rs886045251
|
0.00002
|
NM_181703.4(GJA5):c.358T>C (p.Ser120Pro)
|
rs782642890
|
0.00002
|
NM_181703.4(GJA5):c.370G>C (p.Glu124Gln)
|
rs782428701
|
0.00002
|
NM_181703.4(GJA5):c.378G>A (p.Pro126=)
|
rs112980895
|
0.00002
|
NM_181703.4(GJA5):c.413A>C (p.Glu138Ala)
|
rs782730854
|
0.00002
|
NM_181703.4(GJA5):c.496G>A (p.Gly166Ser)
|
rs782065420
|
0.00002
|
NM_181703.4(GJA5):c.787C>T (p.Pro263Ser)
|
rs781852108
|
0.00002
|
NM_181703.4(GJA5):c.867C>T (p.Ser289=)
|
rs782795886
|
0.00002
|
NM_181703.4(GJA5):c.994C>T (p.Arg332Cys)
|
rs782175029
|
0.00002
|
NM_000152.5(GAA):c.*163G>T
|
rs761668638
|
0.00001
|
NM_000152.5(GAA):c.*66G>A
|
rs908570853
|
0.00001
|
NM_000152.5(GAA):c.-236C>T
|
rs886053541
|
0.00001
|
NM_000152.5(GAA):c.-32-3C>T
|
rs1055945806
|
0.00001
|
NM_000152.5(GAA):c.1012G>T (p.Asp338Tyr)
|
rs1334402365
|
0.00001
|
NM_000152.5(GAA):c.1044G>A (p.Lys348=)
|
rs1249705476
|
0.00001
|
NM_000152.5(GAA):c.1047C>T (p.Ser349=)
|
rs138262940
|
0.00001
|
NM_000152.5(GAA):c.1053G>A (p.Val351=)
|
rs773063199
|
0.00001
|
NM_000152.5(GAA):c.1056G>A (p.Gln352=)
|
rs2039145288
|
0.00001
|
NM_000152.5(GAA):c.1059G>C (p.Gln353His)
|
rs376146090
|
0.00001
|
NM_000152.5(GAA):c.1064T>C (p.Leu355Pro)
|
rs766074609
|
0.00001
|
NM_000152.5(GAA):c.1068C>T (p.Asp356=)
|
rs751215137
|
0.00001
|
NM_000152.5(GAA):c.1075+4G>A
|
rs754290055
|
0.00001
|
NM_000152.5(GAA):c.1076-1G>C
|
rs1555600050
|
0.00001
|
NM_000152.5(GAA):c.1076-3C>T
|
rs1220435321
|
0.00001
|
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu)
|
rs755253527
|
0.00001
|
NM_000152.5(GAA):c.108G>A (p.Leu36=)
|
rs1369758261
|
0.00001
|
NM_000152.5(GAA):c.1095A>G (p.Pro365=)
|
rs1555600060
|
0.00001
|
NM_000152.5(GAA):c.109C>G (p.Leu37Val)
|
rs369775994
|
0.00001
|
NM_000152.5(GAA):c.1107G>T (p.Leu369=)
|
rs767807936
|
0.00001
|
NM_000152.5(GAA):c.1110C>G (p.Gly370=)
|
rs775172804
|
0.00001
|
NM_000152.5(GAA):c.1116C>T (p.His372=)
|
rs760146859
|
0.00001
|
NM_000152.5(GAA):c.1123C>T (p.Arg375Cys)
|
rs372486238
|
0.00001
|
NM_000152.5(GAA):c.1133A>G (p.Tyr378Cys)
|
rs963719602
|
0.00001
|
NM_000152.5(GAA):c.1146T>G (p.Ala382=)
|
rs1259509761
|
0.00001
|
NM_000152.5(GAA):c.1161G>C (p.Val387=)
|
rs756211975
|
0.00001
|
NM_000152.5(GAA):c.1170C>T (p.Asn390=)
|
rs757174980
|
0.00001
|
NM_000152.5(GAA):c.1171A>G (p.Met391Val)
|
rs778634337
|
0.00001
|
NM_000152.5(GAA):c.1184A>T (p.His395Leu)
|
rs775121651
|
0.00001
|
NM_000152.5(GAA):c.118C>T (p.Arg40Ter)
|
rs767409395
|
0.00001
|
NM_000152.5(GAA):c.1192C>T (p.Leu398=)
|
rs369707231
|
0.00001
|
NM_000152.5(GAA):c.1195-4G>T
|
rs886042626
|
0.00001
|
NM_000152.5(GAA):c.1195-8G>A
|
rs1194778188
|
0.00001
|
NM_000152.5(GAA):c.1197C>T (p.Asp399=)
|
rs1555600168
|
0.00001
|
NM_000152.5(GAA):c.1200C>G (p.Val400=)
|
rs1431452557
|
0.00001
|
NM_000152.5(GAA):c.1210G>A (p.Asp404Asn)
|
rs141533320
|
0.00001
|
NM_000152.5(GAA):c.1211A>G (p.Asp404Gly)
|
rs886042961
|
0.00001
|
NM_000152.5(GAA):c.1222A>G (p.Met408Val)
|
rs560575383
|
0.00001
|
NM_000152.5(GAA):c.1227C>T (p.Asp409=)
|
rs2039157937
|
0.00001
|
NM_000152.5(GAA):c.1229C>T (p.Ser410Phe)
|
rs777431563
|
0.00001
|
NM_000152.5(GAA):c.1231C>T (p.Arg411Trp)
|
rs772730706
|
0.00001
|
NM_000152.5(GAA):c.1274C>T (p.Pro425Leu)
|
rs765235868
|
0.00001
|
NM_000152.5(GAA):c.1292_1295dup (p.Gln433fs)
|
rs996798292
|
0.00001
|
NM_000152.5(GAA):c.1298A>G (p.Gln433Arg)
|
rs201463496
|
0.00001
|
NM_000152.5(GAA):c.1306C>T (p.Arg436Trp)
|
rs777372252
|
0.00001
|
NM_000152.5(GAA):c.1319T>C (p.Met440Thr)
|
rs768847441
|
0.00001
|
NM_000152.5(GAA):c.1323C>T (p.Ile441=)
|
rs761982159
|
0.00001
|
NM_000152.5(GAA):c.1324G>A (p.Val442Met)
|
rs377559348
|
0.00001
|
NM_000152.5(GAA):c.1326+20G>A
|
rs774138443
|
0.00001
|
NM_000152.5(GAA):c.1326+8C>A
|
rs762988038
|
0.00001
|
NM_000152.5(GAA):c.1327-2A>G
|
rs1410829147
|
0.00001
|
NM_000152.5(GAA):c.1338C>T (p.Ile446=)
|
rs931782061
|
0.00001
|
NM_000152.5(GAA):c.1347G>A (p.Ser449=)
|
rs756938942
|
0.00001
|
NM_000152.5(GAA):c.1361G>A (p.Ser454Asn)
|
rs2039191738
|
0.00001
|
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe)
|
rs886043148
|
0.00001
|
NM_000152.5(GAA):c.1406C>T (p.Thr469Ile)
|
rs768500880
|
0.00001
|
NM_000152.5(GAA):c.1410C>T (p.Asn470=)
|
rs886043068
|
0.00001
|
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs)
|
rs770276275
|
0.00001
|
NM_000152.5(GAA):c.1418G>C (p.Gly473Ala)
|
rs886043976
|
0.00001
|
NM_000152.5(GAA):c.1438-10C>T
|
rs1029231930
|
0.00001
|
NM_000152.5(GAA):c.1438G>A (p.Val480Ile)
|
rs769574574
|
0.00001
|
NM_000152.5(GAA):c.1441del (p.Trp481fs)
|
rs1403500889
|
0.00001
|
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg)
|
rs770590394
|
0.00001
|
NM_000152.5(GAA):c.1448G>T (p.Gly483Val)
|
rs2039213206
|
0.00001
|
NM_000152.5(GAA):c.1449G>A (p.Gly483=)
|
rs2039213274
|
0.00001
|
NM_000152.5(GAA):c.1455T>G (p.Thr485=)
|
rs774037839
|
0.00001
|
NM_000152.5(GAA):c.1458C>T (p.Ala486=)
|
rs1051768479
|
0.00001
|
NM_000152.5(GAA):c.1464C>T (p.Pro488=)
|
rs767075458
|
0.00001
|
NM_000152.5(GAA):c.1485C>T (p.Ala495=)
|
rs765596792
|
0.00001
|
NM_000152.5(GAA):c.1500G>A (p.Glu500=)
|
rs893313279
|
0.00001
|
NM_000152.5(GAA):c.1514A>C (p.Glu505Ala)
|
rs1418481698
|
0.00001
|
NM_000152.5(GAA):c.151G>A (p.Glu51Lys)
|
rs2039030436
|
0.00001
|
NM_000152.5(GAA):c.1537G>A (p.Asp513Asn)
|
rs748047271
|
0.00001
|
NM_000152.5(GAA):c.1539C>T (p.Asp513=)
|
rs150990571
|
0.00001
|
NM_000152.5(GAA):c.1551+10G>T
|
rs1002900770
|
0.00001
|
NM_000152.5(GAA):c.1551+12C>A
|
rs937342824
|
0.00001
|
NM_000152.5(GAA):c.1551+1G>T
|
rs770780848
|
0.00001
|
NM_000152.5(GAA):c.1551+7G>A
|
rs1340464172
|
0.00001
|
NM_000152.5(GAA):c.1556T>C (p.Met519Thr)
|
rs786204720
|
0.00001
|
NM_000152.5(GAA):c.1561G>A (p.Glu521Lys)
|
rs121907937
|
0.00001
|
NM_000152.5(GAA):c.1564C>T (p.Pro522Ser)
|
rs892129065
|
0.00001
|
NM_000152.5(GAA):c.1585T>G (p.Ser529Ala)
|
rs1598582021
|
0.00001
|
NM_000152.5(GAA):c.1594G>A (p.Gly532Ser)
|
rs773576381
|
0.00001
|
NM_000152.5(GAA):c.1607A>G (p.Asn536Ser)
|
rs368568190
|
0.00001
|
NM_000152.5(GAA):c.1610del (p.Glu537fs)
|
rs762060817
|
0.00001
|
NM_000152.5(GAA):c.1626C>G (p.Pro542=)
|
rs947585663
|
0.00001
|
NM_000152.5(GAA):c.1636+14C>T
|
rs758256318
|
0.00001
|
NM_000152.5(GAA):c.1636+7T>C
|
rs1041767114
|
0.00001
|
NM_000152.5(GAA):c.1636+9G>A
|
rs200302174
|
0.00001
|
NM_000152.5(GAA):c.1637-11G>A
|
rs557695694
|
0.00001
|
NM_000152.5(GAA):c.1643T>C (p.Val548Ala)
|
rs754686630
|
0.00001
|
NM_000152.5(GAA):c.1660G>C (p.Ala554Pro)
|
rs1283351706
|
0.00001
|
NM_000152.5(GAA):c.1662G>A (p.Ala554=)
|
rs775954786
|
0.00001
|
NM_000152.5(GAA):c.1669A>G (p.Ile557Val)
|
rs747150965
|
0.00001
|
NM_000152.5(GAA):c.1698C>T (p.Ser566=)
|
rs970201201
|
0.00001
|
NM_000152.5(GAA):c.172C>T (p.Gln58Ter)
|
rs201185475
|
0.00001
|
NM_000152.5(GAA):c.1754+1G>A
|
rs886043399
|
0.00001
|
NM_000152.5(GAA):c.1754+8C>T
|
rs1349192080
|
0.00001
|
NM_000152.5(GAA):c.1754G>A (p.Arg585Lys)
|
rs747373179
|
0.00001
|
NM_000152.5(GAA):c.1755-11C>T
|
rs752066426
|
0.00001
|
NM_000152.5(GAA):c.1755-3C>T
|
rs748327755
|
0.00001
|
NM_000152.5(GAA):c.1757C>T (p.Ala586Val)
|
rs770021831
|
0.00001
|
NM_000152.5(GAA):c.1771C>T (p.Arg591Trp)
|
rs770983413
|
0.00001
|
NM_000152.5(GAA):c.1772G>A (p.Arg591Gln)
|
rs528010457
|
0.00001
|
NM_000152.5(GAA):c.1774G>A (p.Gly592Arg)
|
rs1387345310
|
0.00001
|
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr)
|
rs753505203
|
0.00001
|
NM_000152.5(GAA):c.1797C>A (p.Ser599=)
|
rs761377657
|
0.00001
|
NM_000152.5(GAA):c.1799G>A (p.Arg600His)
|
rs377544304
|
0.00001
|
NM_000152.5(GAA):c.1802C>T (p.Ser601Leu)
|
rs374470794
|
0.00001
|
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp)
|
rs1393386120
|
0.00001
|
NM_000152.5(GAA):c.1822C>T (p.Arg608Ter)
|
rs749529161
|
0.00001
|
NM_000152.5(GAA):c.1826dup (p.Tyr609Ter)
|
rs786204727
|
0.00001
|
NM_000152.5(GAA):c.1827C>T (p.Tyr609=)
|
rs745754277
|
0.00001
|
NM_000152.5(GAA):c.183C>T (p.Ser61=)
|
rs17853995
|
0.00001
|
NM_000152.5(GAA):c.1842G>A (p.Thr614=)
|
rs373955374
|
0.00001
|
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg)
|
rs549029029
|
0.00001
|
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn)
|
rs753269119
|
0.00001
|
NM_000152.5(GAA):c.1857C>T (p.Ser619=)
|
rs914396317
|
0.00001
|
NM_000152.5(GAA):c.1871T>C (p.Leu624Pro)
|
rs2039267331
|
0.00001
|
NM_000152.5(GAA):c.1876T>G (p.Ser626Ala)
|
rs1235035841
|
0.00001
|
NM_000152.5(GAA):c.1884G>C (p.Val628=)
|
rs780130036
|
0.00001
|
NM_000152.5(GAA):c.1886C>T (p.Pro629Leu)
|
rs746961289
|
0.00001
|
NM_000152.5(GAA):c.1889-14C>T
|
rs890806224
|
0.00001
|
NM_000152.5(GAA):c.1889-7C>G
|
rs765713320
|
0.00001
|
NM_000152.5(GAA):c.1926C>T (p.Val642=)
|
rs1346499760
|
0.00001
|
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser)
|
rs536906561
|
0.00001
|
NM_000152.5(GAA):c.1943G>A (p.Gly648Asp)
|
rs1448515860
|
0.00001
|
NM_000152.5(GAA):c.1958C>A (p.Thr653Asn)
|
rs763456921
|
0.00001
|
NM_000152.5(GAA):c.1959C>T (p.Thr653=)
|
rs370737292
|
0.00001
|
NM_000152.5(GAA):c.1962_1964del (p.Glu656del)
|
rs1030961946
|
0.00001
|
NM_000152.5(GAA):c.1977G>A (p.Val659=)
|
rs751873094
|
0.00001
|
NM_000152.5(GAA):c.1989G>T (p.Gln663His)
|
rs1189531783
|
0.00001
|
NM_000152.5(GAA):c.1996G>T (p.Ala666Ser)
|
rs916566117
|
0.00001
|
NM_000152.5(GAA):c.2005C>A (p.Pro669Thr)
|
rs752507985
|
0.00001
|
NM_000152.5(GAA):c.2012T>C (p.Met671Thr)
|
rs398123170
|
0.00001
|
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp)
|
rs757111744
|
0.00001
|
NM_000152.5(GAA):c.2025C>T (p.Asn675=)
|
rs143951130
|
0.00001
|
NM_000152.5(GAA):c.2040+16C>T
|
rs573522544
|
0.00001
|
NM_000152.5(GAA):c.2040+1G>T
|
rs1057516928
|
0.00001
|
NM_000152.5(GAA):c.2040+8G>A
|
rs779647712
|
0.00001
|
NM_000152.5(GAA):c.2041-13G>A
|
rs1450561353
|
0.00001
|
NM_000152.5(GAA):c.2041-14C>T
|
rs1047297951
|
0.00001
|
NM_000152.5(GAA):c.2041-17C>T
|
rs746028622
|
0.00001
|
NM_000152.5(GAA):c.2041-7C>T
|
rs1212995227
|
0.00001
|
NM_000152.5(GAA):c.2050C>T (p.Pro684Ser)
|
rs776486462
|
0.00001
|
NM_000152.5(GAA):c.206A>G (p.Gln69Arg)
|
rs767191385
|
0.00001
|
NM_000152.5(GAA):c.2070G>A (p.Pro690=)
|
rs757802524
|
0.00001
|
NM_000152.5(GAA):c.2078A>G (p.Gln693Arg)
|
rs779338215
|
0.00001
|
NM_000152.5(GAA):c.2097C>T (p.Leu699=)
|
rs1381174968
|
0.00001
|
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys)
|
rs786204645
|
0.00001
|
NM_000152.5(GAA):c.2118C>T (p.Leu706=)
|
rs1479318289
|
0.00001
|
NM_000152.5(GAA):c.2137T>C (p.Phe713Leu)
|
rs755618776
|
0.00001
|
NM_000152.5(GAA):c.2142C>T (p.His714=)
|
rs779462990
|
0.00001
|
NM_000152.5(GAA):c.214C>A (p.Pro72Thr)
|
rs923068950
|
0.00001
|
NM_000152.5(GAA):c.2166C>T (p.Thr722=)
|
rs759452172
|
0.00001
|
NM_000152.5(GAA):c.2174G>A (p.Arg725Gln)
|
rs577042191
|
0.00001
|
NM_000152.5(GAA):c.2179C>T (p.Leu727Phe)
|
rs1290010789
|
0.00001
|
NM_000152.5(GAA):c.217G>A (p.Gly73Ser)
|
rs760644219
|
0.00001
|
NM_000152.5(GAA):c.2182T>C (p.Phe728Leu)
|
rs1232306443
|
0.00001
|
NM_000152.5(GAA):c.2189+1G>T
|
rs1209887739
|
0.00001
|
NM_000152.5(GAA):c.2198A>G (p.Lys733Arg)
|
rs763612880
|
0.00001
|
NM_000152.5(GAA):c.2218G>T (p.Val740Leu)
|
rs752122499
|
0.00001
|
NM_000152.5(GAA):c.221G>A (p.Arg74His)
|
rs764797280
|
0.00001
|
NM_000152.5(GAA):c.2221G>A (p.Asp741Asn)
|
rs755272974
|
0.00001
|
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly)
|
rs1479740763
|
0.00001
|
NM_000152.5(GAA):c.2259C>T (p.Thr753=)
|
rs2039367115
|
0.00001
|
NM_000152.5(GAA):c.2283C>T (p.Ala761=)
|
rs774769974
|
0.00001
|
NM_000152.5(GAA):c.2284G>A (p.Glu762Lys)
|
rs760063214
|
0.00001
|
NM_000152.5(GAA):c.2296T>A (p.Tyr766Asn)
|
rs941181575
|
0.00001
|
NM_000152.5(GAA):c.231A>G (p.Ala77=)
|
rs748580998
|
0.00001
|
NM_000152.5(GAA):c.2331+2T>A
|
rs1057517148
|
0.00001
|
NM_000152.5(GAA):c.234G>T (p.Val78=)
|
rs2039033854
|
0.00001
|
NM_000152.5(GAA):c.2392A>G (p.Ile798Val)
|
rs752459996
|
0.00001
|
NM_000152.5(GAA):c.2401G>A (p.Glu801Lys)
|
rs201980859
|
0.00001
|
NM_000152.5(GAA):c.2424G>A (p.Pro808=)
|
rs763272351
|
0.00001
|
NM_000152.5(GAA):c.2427C>G (p.Ala809=)
|
rs766325117
|
0.00001
|
NM_000152.5(GAA):c.2459C>T (p.Ala820Val)
|
rs786204304
|
0.00001
|
NM_000152.5(GAA):c.2463G>T (p.Gly821=)
|
rs923989221
|
0.00001
|
NM_000152.5(GAA):c.2476C>T (p.Leu826=)
|
rs2039389671
|
0.00001
|
NM_000152.5(GAA):c.247G>A (p.Asp83Asn)
|
rs771101156
|
0.00001
|
NM_000152.5(GAA):c.2481+12A>G
|
rs773652476
|
0.00001
|
NM_000152.5(GAA):c.2482-2A>G
|
rs756671283
|
0.00001
|
NM_000152.5(GAA):c.2509C>T (p.Arg837Cys)
|
rs752421149
|
0.00001
|
NM_000152.5(GAA):c.2512C>T (p.Gln838Ter)
|
rs369532274
|
0.00001
|
NM_000152.5(GAA):c.2521A>G (p.Met841Val)
|
rs1184116513
|
0.00001
|
NM_000152.5(GAA):c.2536G>A (p.Ala846Thr)
|
rs1464282302
|
0.00001
|
NM_000152.5(GAA):c.2544C>T (p.Thr848=)
|
rs776487269
|
0.00001
|
NM_000152.5(GAA):c.2550T>C (p.Gly850=)
|
rs761608706
|
0.00001
|
NM_000152.5(GAA):c.2598A>C (p.Glu866Asp)
|
rs1445358978
|
0.00001
|
NM_000152.5(GAA):c.260A>G (p.Asn87Ser)
|
rs117530672
|
0.00001
|
NM_000152.5(GAA):c.2619C>T (p.Tyr873=)
|
rs1555603132
|
0.00001
|
NM_000152.5(GAA):c.2641A>G (p.Arg881Gly)
|
rs769578772
|
0.00001
|
NM_000152.5(GAA):c.2646+11G>A
|
rs1219786295
|
0.00001
|
NM_000152.5(GAA):c.2646+8C>A
|
rs773123506
|
0.00001
|
NM_000152.5(GAA):c.2647-7G>A
|
rs192679574
|
0.00001
|
NM_000152.5(GAA):c.264C>T (p.Ser88=)
|
rs1470933192
|
0.00001
|
NM_000152.5(GAA):c.2651C>T (p.Thr884Met)
|
rs759144318
|
0.00001
|
NM_000152.5(GAA):c.2655C>T (p.Ile885=)
|
rs774840779
|
0.00001
|
NM_000152.5(GAA):c.265C>T (p.Arg89Cys)
|
rs534192892
|
0.00001
|
NM_000152.5(GAA):c.2662G>T (p.Glu888Ter)
|
rs765718882
|
0.00001
|
NM_000152.5(GAA):c.2700G>A (p.Gln900=)
|
rs1490464728
|
0.00001
|
NM_000152.5(GAA):c.2706del (p.Lys903fs)
|
rs1428358278
|
0.00001
|
NM_000152.5(GAA):c.270C>T (p.Phe90=)
|
rs768078324
|
0.00001
|
NM_000152.5(GAA):c.2712G>A (p.Val904=)
|
rs886043848
|
0.00001
|
NM_000152.5(GAA):c.2735C>T (p.Ala912Val)
|
rs778874712
|
0.00001
|
NM_000152.5(GAA):c.276C>T (p.Cys92=)
|
rs1232001857
|
0.00001
|
NM_000152.5(GAA):c.2783A>G (p.Tyr928Cys)
|
rs1403885484
|
0.00001
|
NM_000152.5(GAA):c.2803C>T (p.Leu935=)
|
rs746826091
|
0.00001
|
NM_000152.5(GAA):c.2819C>T (p.Ser940Leu)
|
rs1343332597
|
0.00001
|
NM_000152.5(GAA):c.281_282del (p.Pro94fs)
|
rs1057516503
|
0.00001
|
NM_000152.5(GAA):c.2820G>A (p.Ser940=)
|
rs992579033
|
0.00001
|
NM_000152.5(GAA):c.2833G>C (p.Glu945Gln)
|
rs1034101189
|
0.00001
|
NM_000152.5(GAA):c.2842C>T (p.Leu948Phe)
|
rs769312350
|
0.00001
|
NM_000152.5(GAA):c.2844C>T (p.Leu948=)
|
rs774656713
|
0.00001
|
NM_000152.5(GAA):c.2845G>A (p.Val949Ile)
|
rs183458422
|
0.00001
|
NM_000152.5(GAA):c.2846T>A (p.Val949Asp)
|
rs1245412108
|
0.00001
|
NM_000152.5(GAA):c.286A>G (p.Lys96Glu)
|
rs778816809
|
0.00001
|
NM_000152.5(GAA):c.298C>A (p.Gln100Lys)
|
rs780027584
|
0.00001
|
NM_000152.5(GAA):c.314C>T (p.Ala105Val)
|
rs761409404
|
0.00001
|
NM_000152.5(GAA):c.316C>T (p.Arg106Cys)
|
rs915675670
|
0.00001
|
NM_000152.5(GAA):c.328T>C (p.Tyr110His)
|
rs761311330
|
0.00001
|
NM_000152.5(GAA):c.347G>T (p.Gly116Val)
|
rs754285414
|
0.00001
|
NM_000152.5(GAA):c.364A>G (p.Met122Val)
|
rs2039040448
|
0.00001
|
NM_000152.5(GAA):c.365del (p.Met122fs)
|
rs786204661
|
0.00001
|
NM_000152.5(GAA):c.36C>T (p.Leu12=)
|
rs200548806
|
0.00001
|
NM_000152.5(GAA):c.372G>A (p.Gln124=)
|
rs899924363
|
0.00001
|
NM_000152.5(GAA):c.384C>T (p.Phe128=)
|
rs1021707839
|
0.00001
|
NM_000152.5(GAA):c.395G>C (p.Ser132Thr)
|
rs772908626
|
0.00001
|
NM_000152.5(GAA):c.421C>T (p.Leu141=)
|
rs1379595858
|
0.00001
|
NM_000152.5(GAA):c.425G>A (p.Ser142Asn)
|
rs754195673
|
0.00001
|
NM_000152.5(GAA):c.42C>G (p.Ala14=)
|
rs141377453
|
0.00001
|
NM_000152.5(GAA):c.435A>T (p.Glu145Asp)
|
rs765586839
|
0.00001
|
NM_000152.5(GAA):c.444C>T (p.Tyr148=)
|
rs886043112
|
0.00001
|
NM_000152.5(GAA):c.450C>G (p.Ala150=)
|
rs752367410
|
0.00001
|
NM_000152.5(GAA):c.456G>T (p.Leu152=)
|
rs1477781307
|
0.00001
|
NM_000152.5(GAA):c.459C>G (p.Thr153=)
|
rs751672437
|
0.00001
|
NM_000152.5(GAA):c.461G>A (p.Arg154His)
|
rs781124934
|
0.00001
|
NM_000152.5(GAA):c.468C>T (p.Thr156=)
|
rs145849611
|
0.00001
|
NM_000152.5(GAA):c.471C>T (p.Pro157=)
|
rs551653463
|
0.00001
|
NM_000152.5(GAA):c.472A>G (p.Thr158Ala)
|
rs1598570556
|
0.00001
|
NM_000152.5(GAA):c.488A>T (p.Asp163Val)
|
rs755903462
|
0.00001
|
NM_000152.5(GAA):c.48C>T (p.Cys16=)
|
rs202168804
|
0.00001
|
NM_000152.5(GAA):c.49G>A (p.Ala17Thr)
|
rs751425831
|
0.00001
|
NM_000152.5(GAA):c.503G>T (p.Arg168Leu)
|
rs376685205
|
0.00001
|
NM_000152.5(GAA):c.511G>A (p.Val171Met)
|
rs886053543
|
0.00001
|
NM_000152.5(GAA):c.514A>G (p.Met172Val)
|
rs1307823755
|
0.00001
|
NM_000152.5(GAA):c.530A>C (p.Asn177Thr)
|
rs936395356
|
0.00001
|
NM_000152.5(GAA):c.532C>T (p.Arg178Cys)
|
rs762439362
|
0.00001
|
NM_000152.5(GAA):c.539A>G (p.His180Arg)
|
rs773474041
|
0.00001
|
NM_000152.5(GAA):c.546+12A>G
|
rs1438157883
|
0.00001
|
NM_000152.5(GAA):c.546+7A>C
|
rs1329049814
|
0.00001
|
NM_000152.5(GAA):c.547-41G>C
|
rs753870549
|
0.00001
|
NM_000152.5(GAA):c.549C>G (p.Ile183Met)
|
rs778132082
|
0.00001
|
NM_000152.5(GAA):c.560C>G (p.Ala187Gly)
|
rs749876645
|
0.00001
|
NM_000152.5(GAA):c.568C>T (p.Arg190Cys)
|
rs771258854
|
0.00001
|
NM_000152.5(GAA):c.574G>A (p.Glu192Lys)
|
rs1407372901
|
0.00001
|
NM_000152.5(GAA):c.576G>C (p.Glu192Asp)
|
rs760655446
|
0.00001
|
NM_000152.5(GAA):c.594G>A (p.Pro198=)
|
rs1426823689
|
0.00001
|
NM_000152.5(GAA):c.603C>T (p.His201=)
|
rs1442775924
|
0.00001
|
NM_000152.5(GAA):c.607C>T (p.Arg203Trp)
|
rs751286274
|
0.00001
|
NM_000152.5(GAA):c.608G>A (p.Arg203Gln)
|
rs754446365
|
0.00001
|
NM_000152.5(GAA):c.609G>A (p.Arg203=)
|
rs1247872563
|
0.00001
|
NM_000152.5(GAA):c.615G>A (p.Pro205=)
|
rs141427808
|
0.00001
|
NM_000152.5(GAA):c.621A>G (p.Pro207=)
|
rs772482115
|
0.00001
|
NM_000152.5(GAA):c.625T>C (p.Tyr209His)
|
rs930808379
|
0.00001
|
NM_000152.5(GAA):c.630C>T (p.Ser210=)
|
rs775568949
|
0.00001
|
NM_000152.5(GAA):c.631G>A (p.Val211Met)
|
rs760995790
|
0.00001
|
NM_000152.5(GAA):c.634G>A (p.Glu212Lys)
|
rs768596085
|
0.00001
|
NM_000152.5(GAA):c.670C>T (p.Arg224Trp)
|
rs757700700
|
0.00001
|
NM_000152.5(GAA):c.671G>A (p.Arg224Gln)
|
rs200210219
|
0.00001
|
NM_000152.5(GAA):c.681C>T (p.Asp227=)
|
rs780515378
|
0.00001
|
NM_000152.5(GAA):c.683G>A (p.Gly228Asp)
|
rs1470881018
|
0.00001
|
NM_000152.5(GAA):c.692+5G>T
|
rs763027848
|
0.00001
|
NM_000152.5(GAA):c.692+9T>C
|
rs367661167
|
0.00001
|
NM_000152.5(GAA):c.701C>T (p.Thr234Met)
|
rs752054011
|
0.00001
|
NM_000152.5(GAA):c.702G>A (p.Thr234=)
|
rs755337511
|
0.00001
|
NM_000152.5(GAA):c.704C>T (p.Thr235Met)
|
rs752950890
|
0.00001
|
NM_000152.5(GAA):c.706G>T (p.Val236Leu)
|
rs777964427
|
0.00001
|
NM_000152.5(GAA):c.70G>A (p.Ala24Thr)
|
rs139716763
|
0.00001
|
NM_000152.5(GAA):c.715C>T (p.Leu239=)
|
rs778882374
|
0.00001
|
NM_000152.5(GAA):c.723T>G (p.Phe241Leu)
|
rs1160112655
|
0.00001
|
NM_000152.5(GAA):c.743T>C (p.Leu248Pro)
|
rs1443844938
|
0.00001
|
NM_000152.5(GAA):c.745T>C (p.Ser249Pro)
|
rs1386718298
|
0.00001
|
NM_000152.5(GAA):c.74C>T (p.Ala25Val)
|
rs768867363
|
0.00001
|
NM_000152.5(GAA):c.758C>G (p.Pro253Arg)
|
rs1169157671
|
0.00001
|
NM_000152.5(GAA):c.764A>G (p.Gln255Arg)
|
rs1405975877
|
0.00001
|
NM_000152.5(GAA):c.780C>T (p.Leu260=)
|
rs372614893
|
0.00001
|
NM_000152.5(GAA):c.783C>T (p.Ala261=)
|
rs757356178
|
0.00001
|
NM_000152.5(GAA):c.795T>A (p.Ser265Arg)
|
rs779785396
|
0.00001
|
NM_000152.5(GAA):c.798C>G (p.Pro266=)
|
rs1598575210
|
0.00001
|
NM_000152.5(GAA):c.804G>A (p.Met268Ile)
|
rs1185610552
|
0.00001
|
NM_000152.5(GAA):c.834G>A (p.Leu278=)
|
rs776314424
|
0.00001
|
NM_000152.5(GAA):c.842G>A (p.Arg281Gln)
|
rs772607616
|
0.00001
|
NM_000152.5(GAA):c.843G>A (p.Arg281=)
|
rs1221565410
|
0.00001
|
NM_000152.5(GAA):c.858+14C>T
|
rs746986703
|
0.00001
|
NM_000152.5(GAA):c.859-19C>T
|
rs1331623680
|
0.00001
|
NM_000152.5(GAA):c.863G>A (p.Gly288Asp)
|
rs769074720
|
0.00001
|
NM_000152.5(GAA):c.871C>T (p.Leu291Phe)
|
rs773417785
|
0.00001
|
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys)
|
rs1057516600
|
0.00001
|
NM_000152.5(GAA):c.876C>T (p.Tyr292=)
|
rs763216519
|
0.00001
|
NM_000152.5(GAA):c.900G>A (p.Ala300=)
|
rs759425304
|
0.00001
|
NM_000152.5(GAA):c.906G>A (p.Glu302=)
|
rs1488323868
|
0.00001
|
NM_000152.5(GAA):c.909C>T (p.Asp303=)
|
rs752724918
|
0.00001
|
NM_000152.5(GAA):c.910G>A (p.Gly304Ser)
|
rs140301384
|
0.00001
|
NM_000152.5(GAA):c.918G>A (p.Ser306=)
|
rs373276219
|
0.00001
|
NM_000152.5(GAA):c.936G>T (p.Leu312=)
|
rs1456154347
|
0.00001
|
NM_000152.5(GAA):c.952A>T (p.Met318Leu)
|
rs886044506
|
0.00001
|
NM_000152.5(GAA):c.955+5G>C
|
rs759508507
|
0.00001
|
NM_000152.5(GAA):c.969G>T (p.Gln323His)
|
rs1266693289
|
0.00001
|
NM_000152.5(GAA):c.993G>A (p.Arg331=)
|
rs749831587
|
0.00001
|
NM_000152.5(GAA):c.995C>T (p.Ser332Leu)
|
rs757608620
|
0.00001
|
NM_000152.5(GAA):c.996G>A (p.Ser332=)
|
rs779266179
|
0.00001
|
NM_000152.5(GAA):c.99T>C (p.His33=)
|
rs144736309
|
0.00001
|
NM_000157.4(GBA1):c.1043C>G (p.Ala348Gly)
|
rs78396650
|
0.00001
|
NM_000157.4(GBA1):c.104C>T (p.Ser35Leu)
|
rs757041827
|
0.00001
|
NM_000157.4(GBA1):c.1085C>T (p.Thr362Ile)
|
rs76539814
|
0.00001
|
NM_000157.4(GBA1):c.1090G>A (p.Gly364Arg)
|
rs121908305
|
0.00001
|
NM_000157.4(GBA1):c.1102C>T (p.Arg368Cys)
|
rs374306700
|
0.00001
|
NM_000157.4(GBA1):c.1151C>T (p.Ser384Phe)
|
rs868591897
|
0.00001
|
NM_000157.4(GBA1):c.1174C>T (p.Arg392Trp)
|
rs121908308
|
0.00001
|
NM_000157.4(GBA1):c.1184C>T (p.Ser395Phe)
|
rs760307559
|
0.00001
|
NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser)
|
rs121908311
|
0.00001
|
NM_000157.4(GBA1):c.1297G>T (p.Val433Leu)
|
rs80356769
|
0.00001
|
NM_000157.4(GBA1):c.1316G>A (p.Ser439Asn)
|
rs1571966221
|
0.00001
|
NM_000157.4(GBA1):c.1505G>A (p.Arg502His)
|
rs80356772
|
0.00001
|
NM_000157.4(GBA1):c.1603C>T (p.Arg535Cys)
|
rs747506979
|
0.00001
|
NM_000157.4(GBA1):c.259C>T (p.Arg87Trp)
|
rs1141814
|
0.00001
|
NM_000157.4(GBA1):c.476G>A (p.Arg159Gln)
|
rs79653797
|
0.00001
|
NM_000157.4(GBA1):c.595_596del (p.Leu199fs)
|
rs749714463
|
0.00001
|
NM_000157.4(GBA1):c.604C>T (p.Arg202Ter)
|
rs1009850780
|
0.00001
|
NM_000157.4(GBA1):c.625C>T (p.Arg209Cys)
|
rs398123532
|
0.00001
|
NM_000157.4(GBA1):c.703T>C (p.Ser235Pro)
|
rs1064644
|
0.00001
|
NM_000157.4(GBA1):c.754T>A (p.Phe252Ile)
|
rs381737
|
0.00001
|
NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr)
|
rs74500255
|
0.00001
|
NM_000157.4(GBA1):c.896T>C (p.Ile299Thr)
|
rs794727908
|
0.00001
|
NM_000203.5(IDUA):c.1087C>T (p.Arg363Cys)
|
rs750496798
|
0.00001
|
NM_000203.5(IDUA):c.1139A>G (p.Gln380Arg)
|
rs762903007
|
0.00001
|
NM_000203.5(IDUA):c.1148G>A (p.Arg383His)
|
rs754949360
|
0.00001
|
NM_000203.5(IDUA):c.1154C>G (p.Pro385Arg)
|
rs1553917309
|
0.00001
|
NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys)
|
rs794727896
|
0.00001
|
NM_000203.5(IDUA):c.1163C>G (p.Thr388Arg)
|
rs794727896
|
0.00001
|
NM_000203.5(IDUA):c.1190-2A>T
|
rs994902207
|
0.00001
|
NM_000203.5(IDUA):c.1226G>A (p.Gly409Glu)
|
rs1465083754
|
0.00001
|
NM_000203.5(IDUA):c.1422_1423dup (p.Tyr475fs)
|
rs761793564
|
0.00001
|
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg)
|
rs772416503
|
0.00001
|
NM_000203.5(IDUA):c.152G>A (p.Gly51Asp)
|
rs794726877
|
0.00001
|
NM_000203.5(IDUA):c.1828+1G>C
|
rs919151683
|
0.00001
|
NM_000203.5(IDUA):c.1883G>C (p.Arg628Pro)
|
rs200448421
|
0.00001
|
NM_000203.5(IDUA):c.1898C>T (p.Ser633Leu)
|
rs886043347
|
0.00001
|
NM_000203.5(IDUA):c.191_192del (p.Tyr64fs)
|
rs794727240
|
0.00001
|
NM_000203.5(IDUA):c.223G>A (p.Ala75Thr)
|
rs758452450
|
0.00001
|
NM_000203.5(IDUA):c.227A>G (p.Tyr76Cys)
|
rs780165694
|
0.00001
|
NM_000203.5(IDUA):c.245A>C (p.His82Pro)
|
rs794727239
|
0.00001
|
NM_000203.5(IDUA):c.265C>T (p.Arg89Trp)
|
rs754966840
|
0.00001
|
NM_000203.5(IDUA):c.266G>A (p.Arg89Gln)
|
rs121965029
|
0.00001
|
NM_000203.5(IDUA):c.299+1087G>A
|
rs1162410484
|
0.00001
|
NM_000203.5(IDUA):c.299+1104G>A
|
rs387907484
|
0.00001
|
NM_000203.5(IDUA):c.299+1G>T
|
rs398123259
|
0.00001
|
NM_000203.5(IDUA):c.299+3322C>T
|
rs387907486
|
0.00001
|
NM_000203.5(IDUA):c.299+3360A>G
|
rs760075470
|
0.00001
|
NM_000203.5(IDUA):c.299+3410_299+3424dup
|
rs778682733
|
0.00001
|
NM_000203.5(IDUA):c.299+3444_299+3445del
|
rs758100654
|
0.00001
|
NM_000203.5(IDUA):c.299+3566G>T
|
rs941971930
|
0.00001
|
NM_000203.5(IDUA):c.299G>A (p.Arg100Lys)
|
rs777698606
|
0.00001
|
NM_000203.5(IDUA):c.386-2A>G
|
rs777295041
|
0.00001
|
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro)
|
rs794726878
|
0.00001
|
NM_000203.5(IDUA):c.589+1G>A
|
rs1293215555
|
0.00001
|
NM_000203.5(IDUA):c.600C>G (p.Asn200Lys)
|
rs763375487
|
0.00001
|
NM_000203.5(IDUA):c.623G>A (p.Gly208Asp)
|
rs1430681871
|
0.00001
|
NM_000203.5(IDUA):c.653T>C (p.Leu218Pro)
|
rs869025584
|
0.00001
|
NM_000203.5(IDUA):c.757G>T (p.Gly253Cys)
|
rs546933529
|
0.00001
|
NM_000203.5(IDUA):c.90C>G (p.His30Gln)
|
rs553425887
|
0.00001
|
NM_000203.5(IDUA):c.973-4G>A
|
rs745832717
|
0.00001
|
NM_000363.5(TNNI3):c.-45C>T
|
rs1242688089
|
0.00001
|
NM_000363.5(TNNI3):c.108+2T>G
|
rs1057520417
|
0.00001
|
NM_000363.5(TNNI3):c.108+4G>T
|
rs878853954
|
0.00001
|
NM_000363.5(TNNI3):c.167T>C (p.Ile56Thr)
|
rs545441942
|
0.00001
|
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp)
|
rs104894724
|
0.00001
|
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln)
|
rs397516354
|
0.00001
|
NM_000363.5(TNNI3):c.550-11C>T
|
rs886054635
|
0.00001
|
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn)
|
rs104894727
|
0.00001
|
NM_000363.5(TNNI3):c.620A>G (p.Lys207Arg)
|
rs367672692
|
0.00001
|
NM_000371.4(TTR):c.*31G>A
|
rs553309501
|
0.00001
|
NM_000371.4(TTR):c.118G>A (p.Val40Ile)
|
rs121918093
|
0.00001
|
NM_000371.4(TTR):c.121C>A (p.Arg41=)
|
rs1004021945
|
0.00001
|
NM_000371.4(TTR):c.127A>C (p.Ser43Arg)
|
rs11541800
|
0.00001
|
NM_000371.4(TTR):c.130C>T (p.Pro44Ser)
|
rs11541790
|
0.00001
|
NM_000371.4(TTR):c.136A>G (p.Ile46Val)
|
rs773584864
|
0.00001
|
NM_000371.4(TTR):c.137T>C (p.Ile46Thr)
|
rs1598844137
|
0.00001
|
NM_000371.4(TTR):c.147C>T (p.Ala49=)
|
rs11081703
|
0.00001
|
NM_000371.4(TTR):c.151C>A (p.His51Asn)
|
rs915983905
|
0.00001
|
NM_000371.4(TTR):c.170C>A (p.Ala57Asp)
|
rs1294297409
|
0.00001
|
NM_000371.4(TTR):c.200+15A>G
|
rs1485205541
|
0.00001
|
NM_000371.4(TTR):c.200+17C>A
|
rs767333203
|
0.00001
|
NM_000371.4(TTR):c.200+20T>C
|
rs2073494875
|
0.00001
|
NM_000371.4(TTR):c.200+4A>G
|
rs751512499
|
0.00001
|
NM_000371.4(TTR):c.201-16C>T
|
rs941725460
|
0.00001
|
NM_000371.4(TTR):c.227A>G (p.His76Arg)
|
rs78230119
|
0.00001
|
NM_000371.4(TTR):c.238A>G (p.Thr80Ala)
|
rs121918070
|
0.00001
|
NM_000371.4(TTR):c.239C>T (p.Thr80Ile)
|
rs1254341785
|
0.00001
|
NM_000371.4(TTR):c.246G>C (p.Glu82Asp)
|
rs754635255
|
0.00001
|
NM_000371.4(TTR):c.24C>T (p.Leu8=)
|
rs991342939
|
0.00001
|
NM_000371.4(TTR):c.25C>T (p.Leu9Phe)
|
rs762243340
|
0.00001
|
NM_000371.4(TTR):c.263T>C (p.Ile88Thr)
|
rs1567946180
|
0.00001
|
NM_000371.4(TTR):c.293A>T (p.Tyr98Phe)
|
rs958191819
|
0.00001
|
NM_000371.4(TTR):c.301G>A (p.Ala101Thr)
|
rs730881165
|
0.00001
|
NM_000371.4(TTR):c.314C>T (p.Ser105Phe)
|
rs1322942118
|
0.00001
|
NM_000371.4(TTR):c.315C>A (p.Ser105=)
|
rs11541787
|
0.00001
|
NM_000371.4(TTR):c.336+5G>A
|
rs2073511528
|
0.00001
|
NM_000371.4(TTR):c.336+8T>C
|
rs1176464590
|
0.00001
|
NM_000371.4(TTR):c.337-13T>C
|
rs762691667
|
0.00001
|
NM_000371.4(TTR):c.337-3T>C
|
rs774027595
|
0.00001
|
NM_000371.4(TTR):c.349G>T (p.Ala117Ser)
|
rs267607161
|
0.00001
|
NM_000371.4(TTR):c.367C>T (p.Arg123Cys)
|
rs371566010
|
0.00001
|
NM_000371.4(TTR):c.406T>C (p.Tyr136His)
|
rs766909913
|
0.00001
|
NM_000371.4(TTR):c.408T>C (p.Tyr136=)
|
rs1454790119
|
0.00001
|
NM_000371.4(TTR):c.40C>T (p.Leu14=)
|
rs1347695561
|
0.00001
|
NM_000371.4(TTR):c.65C>T (p.Pro22Leu)
|
rs1215630426
|
0.00001
|
NM_000371.4(TTR):c.68C>T (p.Thr23Met)
|
rs377052919
|
0.00001
|
NM_000371.4(TTR):c.69+12T>C
|
rs368643414
|
0.00001
|
NM_000371.4(TTR):c.69+5G>C
|
rs1221178462
|
0.00001
|
NM_000371.4(TTR):c.69G>A (p.Thr23=)
|
rs752579437
|
0.00001
|
NM_000371.4(TTR):c.70-16T>C
|
rs759512847
|
0.00001
|
NM_000371.4(TTR):c.75C>T (p.Thr25=)
|
rs750051388
|
0.00001
|
NM_000371.4(TTR):c.88T>C (p.Cys30Arg)
|
rs121918083
|
0.00001
|
NM_000546.6(TP53):c.395A>G (p.Lys132Arg)
|
rs1057519996
|
0.00001
|
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr)
|
rs730882005
|
0.00001
|
NM_000546.6(TP53):c.817C>T (p.Arg273Cys)
|
rs121913343
|
0.00001
|
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr)
|
rs863224451
|
0.00001
|
NM_000546.6(TP53):c.841G>A (p.Asp281Asn)
|
rs764146326
|
0.00001
|
NM_001100.4(ACTA1):c.*66G>A
|
rs1403018747
|
0.00001
|
NM_001100.4(ACTA1):c.454+3G>T
|
rs200976037
|
0.00001
|
NM_001100.4(ACTA1):c.888T>C (p.Tyr296=)
|
rs770931836
|
0.00001
|
NM_001256715.2(DNAAF3):c.484C>A (p.Arg162Ser)
|
rs760391305
|
0.00001
|
NM_001267550.2(TTN):c.25064-4A>G
|
rs747247583
|
0.00001
|
NM_001276345.2(TNNT2):c.100C>A (p.Gln34Lys)
|
rs1350800220
|
0.00001
|
NM_001276345.2(TNNT2):c.105G>T (p.Glu35Asp)
|
rs1660031053
|
0.00001
|
NM_001276345.2(TNNT2):c.135G>A (p.Glu45=)
|
rs756174289
|
0.00001
|
NM_001276345.2(TNNT2):c.136G>C (p.Ala46Pro)
|
rs397516447
|
0.00001
|
NM_001276345.2(TNNT2):c.144C>T (p.Thr48=)
|
rs746492909
|
0.00001
|
NM_001276345.2(TNNT2):c.145G>A (p.Glu49Lys)
|
rs757526942
|
0.00001
|
NM_001276345.2(TNNT2):c.153C>G (p.Thr51=)
|
rs1347127737
|
0.00001
|
NM_001276345.2(TNNT2):c.163+13T>C
|
rs527486692
|
0.00001
|
NM_001276345.2(TNNT2):c.163+1G>T
|
rs113051005
|
0.00001
|
NM_001276345.2(TNNT2):c.164-11G>A
|
rs1410150306
|
0.00001
|
NM_001276345.2(TNNT2):c.164-13G>A
|
rs369469475
|
0.00001
|
NM_001276345.2(TNNT2):c.192G>A (p.Glu64=)
|
rs1180516886
|
0.00001
|
NM_001276345.2(TNNT2):c.199+12A>G
|
rs904874768
|
0.00001
|
NM_001276345.2(TNNT2):c.200-4C>G
|
rs397516448
|
0.00001
|
NM_001276345.2(TNNT2):c.20T>C (p.Val7Ala)
|
rs970498944
|
0.00001
|
NM_001276345.2(TNNT2):c.21G>T (p.Val7=)
|
rs777128825
|
0.00001
|
NM_001276345.2(TNNT2):c.222A>G (p.Lys74=)
|
rs781024179
|
0.00001
|
NM_001276345.2(TNNT2):c.230C>T (p.Pro77Leu)
|
rs769040140
|
0.00001
|
NM_001276345.2(TNNT2):c.233+6T>C
|
rs397516449
|
0.00001
|
NM_001276345.2(TNNT2):c.254T>G (p.Val85Gly)
|
rs730881095
|
0.00001
|
NM_001276345.2(TNNT2):c.255G>A (p.Val85=)
|
rs780115529
|
0.00001
|
NM_001276345.2(TNNT2):c.265A>T (p.Ile89Phe)
|
rs746297911
|
0.00001
|
NM_001276345.2(TNNT2):c.273T>C (p.Asp91=)
|
rs763782935
|
0.00001
|
NM_001276345.2(TNNT2):c.277G>A (p.Glu93Lys)
|
rs727504244
|
0.00001
|
NM_001276345.2(TNNT2):c.281dup (p.Val95fs)
|
rs780087395
|
0.00001
|
NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala)
|
rs397516455
|
0.00001
|
NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp)
|
rs397516456
|
0.00001
|
NM_001276345.2(TNNT2):c.305G>A (p.Arg102Gln)
|
rs121964856
|
0.00001
|
NM_001276345.2(TNNT2):c.33C>T (p.Tyr11=)
|
rs148027842
|
0.00001
|
NM_001276345.2(TNNT2):c.349G>A (p.Glu117Lys)
|
rs730881099
|
0.00001
|
NM_001276345.2(TNNT2):c.360T>G (p.Phe120Leu)
|
rs727504331
|
0.00001
|
NM_001276345.2(TNNT2):c.390C>T (p.Leu130=)
|
rs758543857
|
0.00001
|
NM_001276345.2(TNNT2):c.395C>G (p.Ser132Cys)
|
rs1659426786
|
0.00001
|
NM_001276345.2(TNNT2):c.39G>A (p.Glu13=)
|
rs727503516
|
0.00001
|
NM_001276345.2(TNNT2):c.404A>T (p.Asp135Val)
|
rs759758840
|
0.00001
|
NM_001276345.2(TNNT2):c.405C>T (p.Asp135=)
|
rs1161852405
|
0.00001
|
NM_001276345.2(TNNT2):c.411+18C>T
|
rs1384231060
|
0.00001
|
NM_001276345.2(TNNT2):c.411+1G>A
|
rs766666484
|
0.00001
|
NM_001276345.2(TNNT2):c.411C>T (p.Ile137=)
|
rs727504322
|
0.00001
|
NM_001276345.2(TNNT2):c.412-14C>A
|
rs745721749
|
0.00001
|
NM_001276345.2(TNNT2):c.412-8C>T
|
rs781240506
|
0.00001
|
NM_001276345.2(TNNT2):c.412G>A (p.Glu138Lys)
|
rs730881100
|
0.00001
|
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys)
|
rs397516463
|
0.00001
|
NM_001276345.2(TNNT2):c.419G>A (p.Arg140His)
|
rs1339922051
|
0.00001
|
NM_001276345.2(TNNT2):c.431G>A (p.Arg144Gln)
|
rs754037135
|
0.00001
|
NM_001276345.2(TNNT2):c.438G>T (p.Glu146Asp)
|
rs141754300
|
0.00001
|
NM_001276345.2(TNNT2):c.450C>T (p.Ile150=)
|
rs200604266
|
0.00001
|
NM_001276345.2(TNNT2):c.452G>A (p.Arg151Gln)
|
rs730881101
|
0.00001
|
NM_001276345.2(TNNT2):c.459G>A (p.Glu153=)
|
rs775274966
|
0.00001
|
NM_001276345.2(TNNT2):c.472C>T (p.Arg158Trp)
|
rs730881123
|
0.00001
|
NM_001276345.2(TNNT2):c.473G>A (p.Arg158Gln)
|
rs730881102
|
0.00001
|
NM_001276345.2(TNNT2):c.482G>A (p.Arg161His)
|
rs201048783
|
0.00001
|
NM_001276345.2(TNNT2):c.487G>T (p.Ala163Ser)
|
rs727505030
|
0.00001
|
NM_001276345.2(TNNT2):c.490-1G>C
|
rs111344408
|
0.00001
|
NM_001276345.2(TNNT2):c.52+16T>C
|
rs372210580
|
0.00001
|
NM_001276345.2(TNNT2):c.52+6C>T
|
rs397516472
|
0.00001
|
NM_001276345.2(TNNT2):c.522C>T (p.Asn174=)
|
rs483352833
|
0.00001
|
NM_001276345.2(TNNT2):c.557A>C (p.Lys186Thr)
|
rs1486862820
|
0.00001
|
NM_001276345.2(TNNT2):c.600+11A>G
|
rs1377139344
|
0.00001
|
NM_001276345.2(TNNT2):c.600+8G>C
|
rs1387765771
|
0.00001
|
NM_001276345.2(TNNT2):c.600+9G>C
|
rs760490476
|
0.00001
|
NM_001276345.2(TNNT2):c.601-1G>A
|
rs483352835
|
0.00001
|
NM_001276345.2(TNNT2):c.610-6C>T
|
rs45516702
|
0.00001
|
NM_001276345.2(TNNT2):c.613G>A (p.Glu205Lys)
|
rs150008205
|
0.00001
|
NM_001276345.2(TNNT2):c.642G>A (p.Glu214=)
|
rs772300998
|
0.00001
|
NM_001276345.2(TNNT2):c.659A>T (p.Lys220Met)
|
rs190805300
|
0.00001
|
NM_001276345.2(TNNT2):c.67+12A>G
|
rs138757060
|
0.00001
|
NM_001276345.2(TNNT2):c.677G>A (p.Arg226Lys)
|
rs1205564576
|
0.00001
|
NM_001276345.2(TNNT2):c.67G>A (p.Glu23Lys)
|
rs772966842
|
0.00001
|
NM_001276345.2(TNNT2):c.719+9T>C
|
rs1658714634
|
0.00001
|
NM_001276345.2(TNNT2):c.720-14C>A
|
rs761998371
|
0.00001
|
NM_001276345.2(TNNT2):c.720-3C>T
|
rs373092494
|
0.00001
|
NM_001276345.2(TNNT2):c.720-9C>A
|
rs763204242
|
0.00001
|
NM_001276345.2(TNNT2):c.752A>G (p.Tyr251Cys)
|
rs200500421
|
0.00001
|
NM_001276345.2(TNNT2):c.775G>A (p.Asp259Asn)
|
rs141805127
|
0.00001
|
NM_001276345.2(TNNT2):c.778C>T (p.Leu260=)
|
rs977853063
|
0.00001
|
NM_001276345.2(TNNT2):c.803A>T (p.Lys268Ile)
|
rs397516482
|
0.00001
|
NM_001276345.2(TNNT2):c.810+1G>A
|
rs113874623
|
0.00001
|
NM_001276345.2(TNNT2):c.810+8G>A
|
rs369645817
|
0.00001
|
NM_001276345.2(TNNT2):c.811-4G>A
|
rs1431082504
|
0.00001
|
NM_001276345.2(TNNT2):c.815A>G (p.Asn272Ser)
|
rs397516483
|
0.00001
|
NM_001276345.2(TNNT2):c.835A>G (p.Asn279Asp)
|
rs4523540
|
0.00001
|
NM_001276345.2(TNNT2):c.852-18G>A
|
rs778928540
|
0.00001
|
NM_001276345.2(TNNT2):c.861C>A (p.Thr287=)
|
rs754211195
|
0.00001
|
NM_001276345.2(TNNT2):c.886C>T (p.Arg296Cys)
|
rs367785431
|
0.00001
|
NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter)
|
rs727504247
|
0.00001
|
NM_001276345.2(TNNT2):c.97G>T (p.Glu33Ter)
|
rs377474357
|
0.00001
|
NM_001378414.1(HDAC4):c.1580C>T (p.Pro527Leu)
|
rs372078034
|
0.00001
|
NM_001458.5(FLNC):c.2746C>T (p.Arg916Trp)
|
rs762095761
|
0.00001
|
NM_002468.5(MYD88):c.755T>C (p.Leu252Pro)
|
rs387907272
|
0.00001
|
NM_002471.4(MYH6):c.3934C>G (p.Gln1312Glu)
|
rs1322506642
|
0.00001
|
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp)
|
rs121913237
|
0.00001
|
NM_004006.3(DMD):c.8996C>T (p.Ala2999Val)
|
rs762577093
|
0.00001
|
NM_004380.3(CREBBP):c.5188A>G (p.Ile1730Val)
|
rs1159294530
|
0.00001
|
NM_005027.4(PIK3R2):c.850G>A (p.Val284Met)
|
rs1212577459
|
0.00001
|
NM_005159.4(ACTC1):c.*1090A>G
|
rs886051070
|
0.00001
|
NM_005159.4(ACTC1):c.-109C>A
|
rs886051097
|
0.00001
|
NM_005733.3(KIF20A):c.544C>T (p.Arg182Trp)
|
rs771130761
|
0.00001
|
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys)
|
rs121913499
|
0.00001
|
NM_005896.4(IDH1):c.395G>A (p.Arg132His)
|
rs121913500
|
0.00001
|
NM_006206.6(PDGFRA):c.*1102T>G
|
rs1577757624
|
0.00001
|
NM_006206.6(PDGFRA):c.*1195A>C
|
rs1219021519
|
0.00001
|
NM_006206.6(PDGFRA):c.*1334G>A
|
rs1278770606
|
0.00001
|
NM_006206.6(PDGFRA):c.*1521C>T
|
rs886059457
|
0.00001
|
NM_006206.6(PDGFRA):c.*1706T>C
|
rs886059458
|
0.00001
|
NM_006206.6(PDGFRA):c.*2475C>T
|
rs886059460
|
0.00001
|
NM_006206.6(PDGFRA):c.*2655A>G
|
rs910994718
|
0.00001
|
NM_006206.6(PDGFRA):c.*2840A>G
|
rs886059462
|
0.00001
|
NM_006206.6(PDGFRA):c.*505A>G
|
rs373134586
|
0.00001
|
NM_006206.6(PDGFRA):c.*793C>T
|
rs557191329
|
0.00001
|
NM_006206.6(PDGFRA):c.1122-6T>A
|
rs754623338
|
0.00001
|
NM_006206.6(PDGFRA):c.1471G>A (p.Ala491Thr)
|
rs563016888
|
0.00001
|
NM_006206.6(PDGFRA):c.1658C>T (p.Pro553Leu)
|
rs1060501502
|
0.00001
|
NM_006206.6(PDGFRA):c.1794C>T (p.Val598=)
|
rs1218651787
|
0.00001
|
NM_006206.6(PDGFRA):c.2003-7C>T
|
rs886059447
|
0.00001
|
NM_006206.6(PDGFRA):c.2232C>T (p.Pro744=)
|
rs1060504254
|
0.00001
|
NM_006206.6(PDGFRA):c.2266G>A (p.Asp756Asn)
|
rs555347387
|
0.00001
|
NM_006206.6(PDGFRA):c.2881-8G>A
|
rs778161572
|
0.00001
|
NM_006206.6(PDGFRA):c.2986G>A (p.Glu996Lys)
|
rs779173667
|
0.00001
|
NM_006206.6(PDGFRA):c.3191A>G (p.Asp1064Gly)
|
rs375050626
|
0.00001
|
NM_006206.6(PDGFRA):c.3200T>C (p.Ile1067Thr)
|
rs1346616192
|
0.00001
|
NM_006206.6(PDGFRA):c.345G>A (p.Arg115=)
|
rs778510648
|
0.00001
|
NM_014476.6(PDLIM3):c.365G>A (p.Arg122Gln)
|
rs751951109
|
0.00001
|
NM_022114.4(PRDM16):c.2447A>G (p.Asn816Ser)
|
rs397514743
|
0.00001
|
NM_032578.4(MYPN):c.1019C>G (p.Ser340Cys)
|
rs777080663
|
0.00001
|
NM_032578.4(MYPN):c.103G>T (p.Ala35Ser)
|
rs1287546364
|
0.00001
|
NM_032578.4(MYPN):c.1052C>T (p.Ser351Leu)
|
rs747136869
|
0.00001
|
NM_032578.4(MYPN):c.105G>A (p.Ala35=)
|
rs533632772
|
0.00001
|
NM_032578.4(MYPN):c.106G>C (p.Glu36Gln)
|
rs768904251
|
0.00001
|
NM_032578.4(MYPN):c.1071T>C (p.Tyr357=)
|
rs1323471969
|
0.00001
|
NM_032578.4(MYPN):c.1081G>T (p.Val361Phe)
|
rs527628617
|
0.00001
|
NM_032578.4(MYPN):c.1109C>T (p.Pro370Leu)
|
rs749986338
|
0.00001
|
NM_032578.4(MYPN):c.112T>A (p.Ser38Thr)
|
rs761950155
|
0.00001
|
NM_032578.4(MYPN):c.1130+8T>C
|
rs375465809
|
0.00001
|
NM_032578.4(MYPN):c.113C>T (p.Ser38Phe)
|
rs549116983
|
0.00001
|
NM_032578.4(MYPN):c.1152G>T (p.Val384=)
|
rs148936510
|
0.00001
|
NM_032578.4(MYPN):c.1188A>G (p.Pro396=)
|
rs371437119
|
0.00001
|
NM_032578.4(MYPN):c.121C>T (p.Pro41Ser)
|
rs759400657
|
0.00001
|
NM_032578.4(MYPN):c.1225C>T (p.Arg409Cys)
|
rs757431496
|
0.00001
|
NM_032578.4(MYPN):c.1245+19A>G
|
rs773859141
|
0.00001
|
NM_032578.4(MYPN):c.1246-2A>G
|
rs1327758535
|
0.00001
|
NM_032578.4(MYPN):c.1246-6T>C
|
rs767717878
|
0.00001
|
NM_032578.4(MYPN):c.1291A>G (p.Ile431Val)
|
rs2042742128
|
0.00001
|
NM_032578.4(MYPN):c.1306G>A (p.Val436Met)
|
rs1172083148
|
0.00001
|
NM_032578.4(MYPN):c.133G>C (p.Gly45Arg)
|
rs1297861595
|
0.00001
|
NM_032578.4(MYPN):c.1372G>A (p.Val458Ile)
|
rs757231554
|
0.00001
|
NM_032578.4(MYPN):c.1431T>C (p.Asp477=)
|
rs1464264584
|
0.00001
|
NM_032578.4(MYPN):c.1436C>G (p.Pro479Arg)
|
rs770366905
|
0.00001
|
NM_032578.4(MYPN):c.1440T>C (p.Asp480=)
|
rs1230149474
|
0.00001
|
NM_032578.4(MYPN):c.1446G>T (p.Arg482Ser)
|
rs1016349010
|
0.00001
|
NM_032578.4(MYPN):c.1452A>C (p.Leu484Phe)
|
rs749716693
|
0.00001
|
NM_032578.4(MYPN):c.1512G>T (p.Glu504Asp)
|
rs935247269
|
0.00001
|
NM_032578.4(MYPN):c.1550C>A (p.Ala517Glu)
|
rs1052323892
|
0.00001
|
NM_032578.4(MYPN):c.1555A>G (p.Asn519Asp)
|
rs768901494
|
0.00001
|
NM_032578.4(MYPN):c.1594G>A (p.Val532Met)
|
rs760362375
|
0.00001
|
NM_032578.4(MYPN):c.1600+14A>C
|
rs753375562
|
0.00001
|
NM_032578.4(MYPN):c.1609G>T (p.Asp537Tyr)
|
rs745748075
|
0.00001
|
NM_032578.4(MYPN):c.1623C>T (p.Asn541=)
|
rs746849244
|
0.00001
|
NM_032578.4(MYPN):c.1624G>A (p.Gly542Arg)
|
rs768390862
|
0.00001
|
NM_032578.4(MYPN):c.1649C>T (p.Thr550Ile)
|
rs761571128
|
0.00001
|
NM_032578.4(MYPN):c.1672C>T (p.Pro558Ser)
|
rs767709261
|
0.00001
|
NM_032578.4(MYPN):c.1680C>T (p.Pro560=)
|
rs566128597
|
0.00001
|
NM_032578.4(MYPN):c.1681T>C (p.Ser561Pro)
|
rs1554845447
|
0.00001
|
NM_032578.4(MYPN):c.1696G>C (p.Glu566Gln)
|
rs1388806519
|
0.00001
|
NM_032578.4(MYPN):c.1734C>T (p.Leu578=)
|
rs747764237
|
0.00001
|
NM_032578.4(MYPN):c.1749G>A (p.Val583=)
|
rs200760918
|
0.00001
|
NM_032578.4(MYPN):c.1763C>T (p.Pro588Leu)
|
rs199936299
|
0.00001
|
NM_032578.4(MYPN):c.1771A>G (p.Ser591Gly)
|
rs767800921
|
0.00001
|
NM_032578.4(MYPN):c.1797C>T (p.His599=)
|
rs757346980
|
0.00001
|
NM_032578.4(MYPN):c.1806G>A (p.Leu602=)
|
rs754999743
|
0.00001
|
NM_032578.4(MYPN):c.1830A>C (p.Glu610Asp)
|
rs769460067
|
0.00001
|
NM_032578.4(MYPN):c.1863A>G (p.Arg621=)
|
rs373826163
|
0.00001
|
NM_032578.4(MYPN):c.1876G>A (p.Asp626Asn)
|
rs754064567
|
0.00001
|
NM_032578.4(MYPN):c.1879T>A (p.Ser627Thr)
|
rs1282443178
|
0.00001
|
NM_032578.4(MYPN):c.1888G>A (p.Glu630Lys)
|
rs794729072
|
0.00001
|
NM_032578.4(MYPN):c.1892G>A (p.Arg631Lys)
|
rs1057520698
|
0.00001
|
NM_032578.4(MYPN):c.1918C>T (p.Pro640Ser)
|
rs908222513
|
0.00001
|
NM_032578.4(MYPN):c.1932C>T (p.Ser644=)
|
rs187664226
|
0.00001
|
NM_032578.4(MYPN):c.1938G>C (p.Val646=)
|
rs776043765
|
0.00001
|
NM_032578.4(MYPN):c.1945C>G (p.Pro649Ala)
|
rs761893396
|
0.00001
|
NM_032578.4(MYPN):c.1948C>T (p.Pro650Ser)
|
rs763195372
|
0.00001
|
NM_032578.4(MYPN):c.1970A>G (p.Lys657Arg)
|
rs1283859977
|
0.00001
|
NM_032578.4(MYPN):c.1979C>T (p.Ser660Phe)
|
rs377257378
|
0.00001
|
NM_032578.4(MYPN):c.2000A>G (p.His667Arg)
|
rs2043186027
|
0.00001
|
NM_032578.4(MYPN):c.2008G>A (p.Val670Ile)
|
rs1331409608
|
0.00001
|
NM_032578.4(MYPN):c.2051C>G (p.Ser684Cys)
|
rs577089308
|
0.00001
|
NM_032578.4(MYPN):c.207A>G (p.Gln69=)
|
rs1488329353
|
0.00001
|
NM_032578.4(MYPN):c.2095G>A (p.Ala699Thr)
|
rs1386715407
|
0.00001
|
NM_032578.4(MYPN):c.2114C>T (p.Thr705Ile)
|
rs768471574
|
0.00001
|
NM_032578.4(MYPN):c.212A>G (p.Glu71Gly)
|
rs1161067131
|
0.00001
|
NM_032578.4(MYPN):c.2134G>C (p.Ala712Pro)
|
rs876657921
|
0.00001
|
NM_032578.4(MYPN):c.2168C>T (p.Pro723Leu)
|
rs550827308
|
0.00001
|
NM_032578.4(MYPN):c.2200G>A (p.Ala734Thr)
|
rs927839092
|
0.00001
|
NM_032578.4(MYPN):c.2221A>G (p.Ser741Gly)
|
rs2043191140
|
0.00001
|
NM_032578.4(MYPN):c.2267G>A (p.Arg756Lys)
|
rs1218456286
|
0.00001
|
NM_032578.4(MYPN):c.2273T>C (p.Val758Ala)
|
rs773188742
|
0.00001
|
NM_032578.4(MYPN):c.2312A>G (p.Gln771Arg)
|
rs775112774
|
0.00001
|
NM_032578.4(MYPN):c.2368A>G (p.Thr790Ala)
|
rs780319735
|
0.00001
|
NM_032578.4(MYPN):c.2389T>C (p.Phe797Leu)
|
rs749206570
|
0.00001
|
NM_032578.4(MYPN):c.2420T>C (p.Phe807Ser)
|
rs760419556
|
0.00001
|
NM_032578.4(MYPN):c.2425C>A (p.Pro809Thr)
|
rs763632315
|
0.00001
|
NM_032578.4(MYPN):c.2454T>G (p.Ser818=)
|
rs758819987
|
0.00001
|
NM_032578.4(MYPN):c.2464C>T (p.Arg822Trp)
|
rs529221329
|
0.00001
|
NM_032578.4(MYPN):c.2465G>A (p.Arg822Gln)
|
rs372903698
|
0.00001
|
NM_032578.4(MYPN):c.2515G>A (p.Ala839Thr)
|
rs752773452
|
0.00001
|
NM_032578.4(MYPN):c.2560T>A (p.Ser854Thr)
|
rs200432306
|
0.00001
|
NM_032578.4(MYPN):c.256G>T (p.Asp86Tyr)
|
rs776901756
|
0.00001
|
NM_032578.4(MYPN):c.2570C>T (p.Ser857Phe)
|
rs376431940
|
0.00001
|
NM_032578.4(MYPN):c.2598G>T (p.Lys866Asn)
|
rs763397921
|
0.00001
|
NM_032578.4(MYPN):c.2603C>T (p.Pro868Leu)
|
rs533835950
|
0.00001
|
NM_032578.4(MYPN):c.2615A>G (p.Asn872Ser)
|
rs1429733850
|
0.00001
|
NM_032578.4(MYPN):c.2629C>T (p.Arg877Cys)
|
rs764042082
|
0.00001
|
NM_032578.4(MYPN):c.2643C>T (p.Asn881=)
|
rs777342412
|
0.00001
|
NM_032578.4(MYPN):c.2653C>T (p.Arg885Ter)
|
rs199476412
|
0.00001
|
NM_032578.4(MYPN):c.266A>G (p.Glu89Gly)
|
rs1288647382
|
0.00001
|
NM_032578.4(MYPN):c.2693C>A (p.Pro898Gln)
|
rs771428473
|
0.00001
|
NM_032578.4(MYPN):c.2693C>T (p.Pro898Leu)
|
rs771428473
|
0.00001
|
NM_032578.4(MYPN):c.2703+17_2703+19del
|
rs554680048
|
0.00001
|
NM_032578.4(MYPN):c.2703+20A>C
|
rs558377291
|
0.00001
|
NM_032578.4(MYPN):c.2704-13G>A
|
rs1381527530
|
0.00001
|
NM_032578.4(MYPN):c.2704-14T>G
|
rs2043463747
|
0.00001
|
NM_032578.4(MYPN):c.271G>A (p.Ala91Thr)
|
rs763043084
|
0.00001
|
NM_032578.4(MYPN):c.2729A>G (p.Gln910Arg)
|
rs2043464810
|
0.00001
|
NM_032578.4(MYPN):c.2764C>T (p.Arg922Cys)
|
rs759367436
|
0.00001
|
NM_032578.4(MYPN):c.2802T>A (p.His934Gln)
|
rs752426180
|
0.00001
|
NM_032578.4(MYPN):c.2834C>T (p.Pro945Leu)
|
rs1477487826
|
0.00001
|
NM_032578.4(MYPN):c.2857C>T (p.His953Tyr)
|
rs1042480350
|
0.00001
|
NM_032578.4(MYPN):c.289A>C (p.Arg97=)
|
rs753677566
|
0.00001
|
NM_032578.4(MYPN):c.2924A>G (p.Lys975Arg)
|
rs200507694
|
0.00001
|
NM_032578.4(MYPN):c.2943T>C (p.Asp981=)
|
rs762543605
|
0.00001
|
NM_032578.4(MYPN):c.2981T>C (p.Met994Thr)
|
rs786205348
|
0.00001
|
NM_032578.4(MYPN):c.3017T>G (p.Ile1006Ser)
|
rs864622711
|
0.00001
|
NM_032578.4(MYPN):c.3040G>A (p.Asp1014Asn)
|
rs769591145
|
0.00001
|
NM_032578.4(MYPN):c.3060G>A (p.Met1020Ile)
|
rs762642659
|
0.00001
|
NM_032578.4(MYPN):c.3074A>G (p.Gln1025Arg)
|
rs759171149
|
0.00001
|
NM_032578.4(MYPN):c.3075+20C>T
|
rs377273417
|
0.00001
|
NM_032578.4(MYPN):c.3075+8C>T
|
rs767145495
|
0.00001
|
NM_032578.4(MYPN):c.3075+9G>A
|
rs370764417
|
0.00001
|
NM_032578.4(MYPN):c.3086G>T (p.Ser1029Ile)
|
rs142320290
|
0.00001
|
NM_032578.4(MYPN):c.308A>T (p.Asp103Val)
|
rs758026056
|
0.00001
|
NM_032578.4(MYPN):c.312G>A (p.Gln104=)
|
rs571241816
|
0.00001
|
NM_032578.4(MYPN):c.3136A>C (p.Thr1046Pro)
|
rs374007615
|
0.00001
|
NM_032578.4(MYPN):c.3145G>C (p.Gly1049Arg)
|
rs770562444
|
0.00001
|
NM_032578.4(MYPN):c.3156C>T (p.His1052=)
|
rs876657923
|
0.00001
|
NM_032578.4(MYPN):c.3157A>T (p.Arg1053Trp)
|
rs1447577755
|
0.00001
|
NM_032578.4(MYPN):c.3159-19A>C
|
rs754950593
|
0.00001
|
NM_032578.4(MYPN):c.3159-3T>C
|
rs778831883
|
0.00001
|
NM_032578.4(MYPN):c.3159-5T>C
|
rs753674673
|
0.00001
|
NM_032578.4(MYPN):c.3159G>A (p.Arg1053=)
|
rs1292473253
|
0.00001
|
NM_032578.4(MYPN):c.3160G>A (p.Gly1054Arg)
|
rs900098416
|
0.00001
|
NM_032578.4(MYPN):c.3166T>A (p.Ser1056Thr)
|
rs771847142
|
0.00001
|
NM_032578.4(MYPN):c.3167C>T (p.Ser1056Phe)
|
rs373101027
|
0.00001
|
NM_032578.4(MYPN):c.3206G>A (p.Arg1069His)
|
rs763362861
|
0.00001
|
NM_032578.4(MYPN):c.3215G>A (p.Arg1072Gln)
|
rs1315597952
|
0.00001
|
NM_032578.4(MYPN):c.3244A>G (p.Met1082Val)
|
rs970434165
|
0.00001
|
NM_032578.4(MYPN):c.325C>T (p.Pro109Ser)
|
rs748574829
|
0.00001
|
NM_032578.4(MYPN):c.3263G>A (p.Arg1088His)
|
rs71584501
|
0.00001
|
NM_032578.4(MYPN):c.3277G>A (p.Asp1093Asn)
|
rs747760649
|
0.00001
|
NM_032578.4(MYPN):c.3286-16T>C
|
rs1273931462
|
0.00001
|
NM_032578.4(MYPN):c.3300G>A (p.Pro1100=)
|
rs777293049
|
0.00001
|
NM_032578.4(MYPN):c.3378C>T (p.Thr1126=)
|
rs751943423
|
0.00001
|
NM_032578.4(MYPN):c.3379G>A (p.Gly1127Arg)
|
rs752302519
|
0.00001
|
NM_032578.4(MYPN):c.339T>C (p.Phe113=)
|
rs773471286
|
0.00001
|
NM_032578.4(MYPN):c.3418G>A (p.Asp1140Asn)
|
rs1328837945
|
0.00001
|
NM_032578.4(MYPN):c.342G>C (p.Glu114Asp)
|
rs1271454652
|
0.00001
|
NM_032578.4(MYPN):c.3433A>C (p.Lys1145Gln)
|
rs768125215
|
0.00001
|
NM_032578.4(MYPN):c.3457G>A (p.Gly1153Arg)
|
rs763805681
|
0.00001
|
NM_032578.4(MYPN):c.3471T>C (p.Phe1157=)
|
rs1366474190
|
0.00001
|
NM_032578.4(MYPN):c.3494-6G>T
|
rs768274852
|
0.00001
|
NM_032578.4(MYPN):c.3502G>A (p.Val1168Met)
|
rs752125039
|
0.00001
|
NM_032578.4(MYPN):c.3543C>T (p.Cys1181=)
|
rs756337136
|
0.00001
|
NM_032578.4(MYPN):c.3544G>A (p.Gly1182Ser)
|
rs777875865
|
0.00001
|
NM_032578.4(MYPN):c.3564C>T (p.Pro1188=)
|
rs768400415
|
0.00001
|
NM_032578.4(MYPN):c.3565G>A (p.Val1189Met)
|
rs776313364
|
0.00001
|
NM_032578.4(MYPN):c.3593T>C (p.Met1198Thr)
|
rs755560876
|
0.00001
|
NM_032578.4(MYPN):c.35T>C (p.Ile12Thr)
|
rs869025490
|
0.00001
|
NM_032578.4(MYPN):c.3611A>C (p.Tyr1204Ser)
|
rs1267268782
|
0.00001
|
NM_032578.4(MYPN):c.3612C>T (p.Tyr1204=)
|
rs1457583142
|
0.00001
|
NM_032578.4(MYPN):c.3622G>A (p.Asp1208Asn)
|
rs777918680
|
0.00001
|
NM_032578.4(MYPN):c.3623A>G (p.Asp1208Gly)
|
rs2043722325
|
0.00001
|
NM_032578.4(MYPN):c.3654G>C (p.Arg1218Ser)
|
rs781011786
|
0.00001
|
NM_032578.4(MYPN):c.3659+19C>A
|
rs1465178515
|
0.00001
|
NM_032578.4(MYPN):c.3734C>T (p.Thr1245Met)
|
rs139138260
|
0.00001
|
NM_032578.4(MYPN):c.374C>T (p.Pro125Leu)
|
rs367784440
|
0.00001
|
NM_032578.4(MYPN):c.3757G>A (p.Gly1253Ser)
|
rs1208726312
|
0.00001
|
NM_032578.4(MYPN):c.3767C>T (p.Ser1256Leu)
|
rs542627169
|
0.00001
|
NM_032578.4(MYPN):c.3793+13C>T
|
rs187622020
|
0.00001
|
NM_032578.4(MYPN):c.3794-8T>C
|
rs778883331
|
0.00001
|
NM_032578.4(MYPN):c.3805C>T (p.His1269Tyr)
|
rs746600159
|
0.00001
|
NM_032578.4(MYPN):c.3813C>A (p.Ile1271=)
|
rs777067913
|
0.00001
|
NM_032578.4(MYPN):c.3819G>A (p.Pro1273=)
|
rs528450397
|
0.00001
|
NM_032578.4(MYPN):c.3847C>T (p.Arg1283Cys)
|
rs753787957
|
0.00001
|
NM_032578.4(MYPN):c.3853G>A (p.Gly1285Arg)
|
rs750277122
|
0.00001
|
NM_032578.4(MYPN):c.3902T>C (p.Met1301Thr)
|
rs778106822
|
0.00001
|
NM_032578.4(MYPN):c.3922T>C (p.Ser1308Pro)
|
rs1279126604
|
0.00001
|
NM_032578.4(MYPN):c.3923C>T (p.Ser1308Leu)
|
rs781048271
|
0.00001
|
NM_032578.4(MYPN):c.3945G>C (p.Val1315=)
|
rs267602553
|
0.00001
|
NM_032578.4(MYPN):c.3959T>C (p.Leu1320Pro)
|
rs200646285
|
0.00001
|
NM_032578.4(MYPN):c.410G>C (p.Arg137Thr)
|
rs765931465
|
0.00001
|
NM_032578.4(MYPN):c.411G>C (p.Arg137Ser)
|
rs751085897
|
0.00001
|
NM_032578.4(MYPN):c.42G>A (p.Gln14=)
|
rs760916544
|
0.00001
|
NM_032578.4(MYPN):c.437C>T (p.Ser146Phe)
|
rs748438784
|
0.00001
|
NM_032578.4(MYPN):c.471C>T (p.Phe157=)
|
rs1484845169
|
0.00001
|
NM_032578.4(MYPN):c.47T>C (p.Leu16Pro)
|
rs1241418398
|
0.00001
|
NM_032578.4(MYPN):c.480G>A (p.Glu160=)
|
rs1264041775
|
0.00001
|
NM_032578.4(MYPN):c.528T>C (p.Arg176=)
|
rs1158680867
|
0.00001
|
NM_032578.4(MYPN):c.56G>A (p.Ser19Asn)
|
rs1379540680
|
0.00001
|
NM_032578.4(MYPN):c.611A>G (p.Glu204Gly)
|
rs373095593
|
0.00001
|
NM_032578.4(MYPN):c.625T>C (p.Ser209Pro)
|
rs794729071
|
0.00001
|
NM_032578.4(MYPN):c.636C>T (p.Pro212=)
|
rs748061439
|
0.00001
|
NM_032578.4(MYPN):c.683T>C (p.Leu228Pro)
|
rs377392207
|
0.00001
|
NM_032578.4(MYPN):c.69A>C (p.Glu23Asp)
|
rs1200405630
|
0.00001
|
NM_032578.4(MYPN):c.712G>A (p.Ala238Thr)
|
rs755212697
|
0.00001
|
NM_032578.4(MYPN):c.725C>T (p.Ala242Val)
|
rs1232532993
|
0.00001
|
NM_032578.4(MYPN):c.736G>A (p.Ala246Thr)
|
rs756677221
|
0.00001
|
NM_032578.4(MYPN):c.751A>G (p.Thr251Ala)
|
rs773860716
|
0.00001
|
NM_032578.4(MYPN):c.766C>T (p.Pro256Ser)
|
rs1352606923
|
0.00001
|
NM_032578.4(MYPN):c.79C>G (p.Arg27Gly)
|
rs754754810
|
0.00001
|
NM_032578.4(MYPN):c.809G>T (p.Arg270Leu)
|
rs1187626834
|
0.00001
|
NM_032578.4(MYPN):c.80G>C (p.Arg27Pro)
|
rs529359915
|
0.00001
|
NM_032578.4(MYPN):c.827G>A (p.Arg276Gln)
|
rs771703762
|
0.00001
|
NM_032578.4(MYPN):c.844G>A (p.Glu282Lys)
|
rs1265232754
|
0.00001
|
NM_032578.4(MYPN):c.858A>G (p.Val286=)
|
rs924022007
|
0.00001
|
NM_032578.4(MYPN):c.859C>A (p.Gln287Lys)
|
rs2042258039
|
0.00001
|
NM_032578.4(MYPN):c.865G>T (p.Asp289Tyr)
|
rs201460662
|
0.00001
|
NM_032578.4(MYPN):c.895C>A (p.Gln299Lys)
|
rs1299051222
|
0.00001
|
NM_032578.4(MYPN):c.903-18A>T
|
rs775857947
|
0.00001
|
NM_032578.4(MYPN):c.903-3C>A
|
rs1172497360
|
0.00001
|
NM_032578.4(MYPN):c.903-4G>T
|
rs886039040
|
0.00001
|
NM_032578.4(MYPN):c.951C>A (p.Ile317=)
|
rs759998419
|
0.00001
|
NM_032578.4(MYPN):c.975A>G (p.Ser325=)
|
rs1158590887
|
0.00001
|
NM_032578.4(MYPN):c.987G>A (p.Ala329=)
|
rs199931312
|
0.00001
|
NM_181703.4(GJA5):c.1006G>A (p.Gly336Ser)
|
rs782650035
|
0.00001
|
NM_181703.4(GJA5):c.1024C>T (p.Arg342Ter)
|
rs782278675
|
0.00001
|
NM_181703.4(GJA5):c.1028G>A (p.Arg343His)
|
rs782627991
|
0.00001
|
NM_181703.4(GJA5):c.1065C>T (p.Asp355=)
|
rs201657244
|
0.00001
|
NM_181703.4(GJA5):c.147G>A (p.Gln49=)
|
rs1487739192
|
0.00001
|
NM_181703.4(GJA5):c.170T>G (p.Ile57Ser)
|
rs1553227077
|
0.00001
|
NM_181703.4(GJA5):c.258C>T (p.Ser86=)
|
rs782415947
|
0.00001
|
NM_181703.4(GJA5):c.316C>T (p.Arg106Cys)
|
rs1553227043
|
0.00001
|
NM_181703.4(GJA5):c.353G>A (p.Arg118Gln)
|
rs782580208
|
0.00001
|
NM_181703.4(GJA5):c.359C>G (p.Ser120Cys)
|
rs1553227023
|
0.00001
|
NM_181703.4(GJA5):c.369_370del (p.Tyr123_Glu124delinsTer)
|
rs782626477
|
0.00001
|
NM_181703.4(GJA5):c.430G>A (p.Ala144Thr)
|
rs782438073
|
0.00001
|
NM_181703.4(GJA5):c.478C>T (p.Arg160Cys)
|
rs368383054
|
0.00001
|
NM_181703.4(GJA5):c.516C>T (p.Tyr172=)
|
rs369888327
|
0.00001
|
NM_181703.4(GJA5):c.542C>T (p.Thr181Ile)
|
rs1553226954
|
0.00001
|
NM_181703.4(GJA5):c.593T>C (p.Val198Ala)
|
rs782032408
|
0.00001
|
NM_181703.4(GJA5):c.725G>T (p.Arg242Leu)
|
rs906244249
|
0.00001
|
NM_181703.4(GJA5):c.771dup (p.Val258fs)
|
rs782700948
|
0.00001
|
NM_181703.4(GJA5):c.776A>C (p.Gln259Pro)
|
rs782792159
|
0.00001
|
NM_181703.4(GJA5):c.790C>A (p.Pro264Thr)
|
rs200371777
|
0.00001
|
NM_181703.4(GJA5):c.893C>G (p.Thr298Ser)
|
rs1454021397
|
0.00001
|
NM_181703.4(GJA5):c.953G>T (p.Gly318Val)
|
rs782221270
|
0.00001
|
NM_181703.4(GJA5):c.977G>C (p.Gly326Ala)
|
rs782703462
|
0.00001
|
NM_182914.3(SYNE2):c.20630C>T (p.Ser6877Phe)
|
rs548596262
|
0.00001
|
NM_206937.2(LIG4):c.1242A>C (p.Val414=)
|
rs150828164
|
0.00001
|
NM_206937.2(LIG4):c.2422T>C (p.Ser808Pro)
|
rs1284344984
|
0.00001
|
NM_206937.2(LIG4):c.524T>C (p.Ile175Thr)
|
rs373262036
|
0.00001
|
NM_206937.2(LIG4):c.560T>C (p.Ile187Thr)
|
rs199854013
|
0.00001
|
GRCh37/hg19 10q21.3(chr10:69933771-69935269)x0
|
|
|
NC_000001.10:g.(?_147230250)_(147231366_?)dup
|
|
|
NC_000001.10:g.(?_147230260)_(147245383_?)del
|
|
|
NC_000001.10:g.(?_147230260)_(147245383_?)dup
|
|
|
NC_000001.10:g.(?_147230270)_(147231346_?)del
|
|
|
NC_000001.10:g.(?_147230270)_(147231346_?)dup
|
|
|
NC_000001.10:g.(?_201327136)_(201347828_?)dup
|
|
|
NC_000001.10:g.(?_201328338)_(201342382_?)dup
|
|
|
NC_000001.10:g.(?_201334309)_(201342392_?)del
|
|
|
NC_000001.11:g.147760632=
|
|
|
NC_000001.11:g.155208308_155208441del
|
|
|
NC_000001.11:g.201369848_201369850delinsAA
|
rs397516362
|
|
NC_000004.12:g.104314621_104314622insG
|
rs1578264146
|
|
NC_000010.10:g.(?_69868190)_(69972774_?)dup
|
|
|
NC_000010.10:g.(?_69881176)_(69905303_?)dup
|
|
|
NC_000010.10:g.(?_69881176)_(69970232_?)dup
|
|
|
NC_000010.10:g.(?_69881185)_(69971784_?)dup
|
|
|
NC_000010.10:g.(?_69881196)_(69970212_?)dup
|
|
|
NC_000010.10:g.(?_69902677)_(69908244_?)dup
|
|
|
NC_000010.10:g.(?_69909777)_(69909888_?)del
|
|
|
NC_000010.10:g.(?_69918233)_(69926433_?)del
|
|
|
NC_000010.10:g.(?_69918241)_(69919957_?)dup
|
|
|
NC_000010.10:g.(?_69961566)_(69961771_?)del
|
|
|
NC_000010.11:g.(?_68161709)_(68161772_?)del
|
|
|
NC_000010.11:g.(?_68161719)_(68161762_?)del
|
|
|
NC_000017.10:g.(78082407_78082495)_(78087166_78090766)del
|
|
|
NC_000017.10:g.(78091549_78091991)_(78092157_78092451)del
|
|
|
NC_000017.10:g.(?_78078341)_(78093140_?)dup
|
|
|
NC_000017.10:g.(?_78078341)_(78093150_?)dup
|
|
|
NC_000017.10:g.(?_78079696)_(78082725_?)del
|
|
|
NC_000017.10:g.(?_78082476)_(78090745_?)del
|
|
|
NC_000017.10:g.(?_78082486)_(78087175_?)del
|
|
|
NC_000017.10:g.(?_78084516)_(78084834_?)del
|
|
|
NC_000017.10:g.(?_78085283)_(78092476_?)del
|
|
|
NC_000017.10:g.(?_78086381)_(78091497_?)del
|
|
|
NC_000017.10:g.(?_78086997)_(78087185_?)del
|
|
|
NC_000017.10:g.(?_78090747)_(78093130_?)del
|
|
|
NC_000017.10:g.(?_78090747)_(78110154_?)dup
|
|
|
NC_000017.10:g.(?_78090757)_(78092614_?)del
|
|
|
NC_000017.10:g.(?_78090757)_(78093140_?)dup
|
|
|
NC_000017.10:g.(?_78090799)_(78093893_?)del
|
|
|
NC_000017.10:g.(?_78091379)_(78093130_?)del
|
|
|
NC_000017.10:g.(?_78091652)_78092189del
|
|
|
NC_000017.10:g.(?_78091972)_(78092176_?)del
|
|
|
NC_000017.10:g.(?_78092582)_(78096154_?)del
|
|
|
NC_000017.11:g.(?_80104542)_(80105914_?)del
|
|
|
NC_000017.11:g.(?_80107537)_(80113386_?)del
|
|
|
NC_000017.11:g.(?_80108677)_(80113386_?)del
|
|
|
NC_000017.11:g.(?_80109935)_(80113376_?)del
|
|
|
NC_000017.11:g.(?_80118183)_(80118367_?)del
|
|
|
NC_000017.11:g.(?_80118193)_(80118357_?)del
|
|
|
NC_000017.11:g.80114186_80114187ins[80114172_80114186;NC_000020.11:g.2823027_2826302;AAA]
|
|
|
NC_000018.10:g.(?_31498242)_(31598685_?)dup
|
|
|
NC_000018.10:g.(?_31591160)_(31598685_?)dup
|
|
|
NC_000018.9:g.(?_28647971)_(29178648_?)dup
|
|
|
NC_000018.9:g.(?_29078215)_(29178638_?)del
|
|
|
NC_000018.9:g.(?_29078215)_(29178638_?)dup
|
|
|
NC_000018.9:g.(?_29098182)_(29178638_?)dup
|
|
|
NC_000018.9:g.(?_29178511)_(29178638_?)dup
|
|
|
NC_012920.1(MT-ND1):m.1555A>G
|
rs267606617
|
|
NM_000051.4(ATM):c.5005G>A (p.Glu1669Lys)
|
rs1591693095
|
|
NM_000059.4(BRCA2):c.476-1G>A
|
rs397507340
|
|
NM_000075.4(CDK4):c.70C>A (p.Arg24Ser)
|
rs11547328
|
|
NM_000075.4(CDK4):c.70C>T (p.Arg24Cys)
|
rs11547328
|
|
NM_000075.4(CDK4):c.71G>A (p.Arg24His)
|
rs104894340
|
|
NM_000075.4(CDK4):c.71G>T (p.Arg24Leu)
|
rs104894340
|
|
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu)
|
rs78311289
|
|
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)
|
rs121913482
|
|
NM_000152.5(GAA):c.*128T>C
|
rs886053549
|
|
NM_000152.5(GAA):c.*219G>A
|
rs1216535924
|
|
NM_000152.5(GAA):c.*309C>T
|
rs886053550
|
|
NM_000152.5(GAA):c.*313C>G
|
rs926145648
|
|
NM_000152.5(GAA):c.*82C>T
|
rs745999686
|
|
NM_000152.5(GAA):c.-32-13T>C
|
rs386834236
|
|
NM_000152.5(GAA):c.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC
|
|
|
NM_000152.5(GAA):c.-32-1G>C
|
rs1555598460
|
|
NM_000152.5(GAA):c.-32-2A>G
|
rs1445232530
|
|
NM_000152.5(GAA):c.-32-385_143del
|
|
|
NM_000152.5(GAA):c.-32-3C>A
|
rs1055945806
|
|
NM_000152.5(GAA):c.-32-3del
|
|
|
NM_000152.5(GAA):c.-325C>T
|
rs1402918119
|
|
NM_000152.5(GAA):c.-75C>G
|
rs80020206
|
|
NM_000152.5(GAA):c.1000G>A (p.Gly334Ser)
|
rs886042960
|
|
NM_000152.5(GAA):c.1001G>A (p.Gly334Asp)
|
rs2039143109
|
|
NM_000152.5(GAA):c.1003G>A (p.Gly335Arg)
|
rs202095215
|
|
NM_000152.5(GAA):c.1003G>T (p.Gly335Trp)
|
rs202095215
|
|
NM_000152.5(GAA):c.1004G>A (p.Gly335Glu)
|
rs730880022
|
|
NM_000152.5(GAA):c.1005G>A (p.Gly335=)
|
rs1598576696
|
|
NM_000152.5(GAA):c.1005G>C (p.Gly335=)
|
|
|
NM_000152.5(GAA):c.1007T>C (p.Ile336Thr)
|
|
|
NM_000152.5(GAA):c.1008C>A (p.Ile336=)
|
rs994615279
|
|
NM_000152.5(GAA):c.1008C>T (p.Ile336=)
|
|
|
NM_000152.5(GAA):c.1009C>T (p.Leu337=)
|
rs1387814304
|
|
NM_000152.5(GAA):c.1011G>T (p.Leu337=)
|
|
|
NM_000152.5(GAA):c.1017C>T (p.Val339=)
|
rs1242745765
|
|
NM_000152.5(GAA):c.1020C>G (p.Tyr340Ter)
|
|
|
NM_000152.5(GAA):c.1020C>T (p.Tyr340=)
|
rs1358917187
|
|
NM_000152.5(GAA):c.1023C>A (p.Ile341=)
|
|
|
NM_000152.5(GAA):c.1026C>T (p.Phe342=)
|
rs910930578
|
|
NM_000152.5(GAA):c.1030_1031del (p.Gly344fs)
|
rs1567829962
|
|
NM_000152.5(GAA):c.1033C>T (p.Pro345Ser)
|
|
|
NM_000152.5(GAA):c.1035A>C (p.Pro345=)
|
rs942325926
|
|
NM_000152.5(GAA):c.1036G>C (p.Glu346Gln)
|
|
|
NM_000152.5(GAA):c.1039C>T (p.Pro347Ser)
|
rs2039144354
|
|
NM_000152.5(GAA):c.1041C>T (p.Pro347=)
|
rs1489442441
|
|
NM_000152.5(GAA):c.1049T>C (p.Val350Ala)
|
rs2039144934
|
|
NM_000152.5(GAA):c.1051del (p.Val351fs)
|
rs786204507
|
|
NM_000152.5(GAA):c.1054C>A (p.Gln352Lys)
|
|
|
NM_000152.5(GAA):c.1054C>T (p.Gln352Ter)
|
|
|
NM_000152.5(GAA):c.1057del (p.Gln353fs)
|
rs2143853690
|
|
NM_000152.5(GAA):c.105C>T (p.Phe35=)
|
|
|
NM_000152.5(GAA):c.1062C>A (p.Tyr354Ter)
|
rs1064796703
|
|
NM_000152.5(GAA):c.1062C>T (p.Tyr354=)
|
rs1064796703
|
|
NM_000152.5(GAA):c.1065G>A (p.Leu355=)
|
rs2143853784
|
|
NM_000152.5(GAA):c.1069G>A (p.Val357Ile)
|
rs754449703
|
|
NM_000152.5(GAA):c.1069G>T (p.Val357Phe)
|
rs754449703
|
|
NM_000152.5(GAA):c.1071T>C (p.Val357=)
|
rs1598576937
|
|
NM_000152.5(GAA):c.1075+10G>A
|
|
|
NM_000152.5(GAA):c.1075+14C>G
|
|
|
NM_000152.5(GAA):c.1075+14C>T
|
rs376547092
|
|
NM_000152.5(GAA):c.1075+15C>T
|
|
|
NM_000152.5(GAA):c.1075+16T>C
|
|
|
NM_000152.5(GAA):c.1075+18G>A
|
|
|
NM_000152.5(GAA):c.1075+1G>T
|
|
|
NM_000152.5(GAA):c.1075+2T>A
|
rs2143853890
|
|
NM_000152.5(GAA):c.1075+2T>C
|
|
|
NM_000152.5(GAA):c.1075+5G>A
|
|
|
NM_000152.5(GAA):c.1075+7C>T
|
|
|
NM_000152.5(GAA):c.1075+8del
|
|
|
NM_000152.5(GAA):c.1075G>A (p.Gly359Arg)
|
|
|
NM_000152.5(GAA):c.1075G>T (p.Gly359Ter)
|
rs1064794288
|
|
NM_000152.5(GAA):c.1076-11T>C
|
|
|
NM_000152.5(GAA):c.1076-12G>A
|
|
|
NM_000152.5(GAA):c.1076-12del
|
rs2039148326
|
|
NM_000152.5(GAA):c.1076-13C>T
|
|
|
NM_000152.5(GAA):c.1076-14G>A
|
rs2143854410
|
|
NM_000152.5(GAA):c.1076-15G>A
|
rs370414054
|
|
NM_000152.5(GAA):c.1076-15G>C
|
rs370414054
|
|
NM_000152.5(GAA):c.1076-15G>T
|
|
|
NM_000152.5(GAA):c.1076-1G>A
|
rs1555600050
|
|
NM_000152.5(GAA):c.1076-2A>G
|
rs1057516290
|
|
NM_000152.5(GAA):c.1076-4G>T
|
rs2039148417
|
|
NM_000152.5(GAA):c.1076-7C>T
|
|
|
NM_000152.5(GAA):c.1076-8G>A
|
|
|
NM_000152.5(GAA):c.1080C>T (p.Tyr360=)
|
rs2143854519
|
|
NM_000152.5(GAA):c.1082C>G (p.Pro361Arg)
|
rs755253527
|
|
NM_000152.5(GAA):c.1082dup (p.Phe362fs)
|
rs2143854537
|
|
NM_000152.5(GAA):c.1086C>T (p.Phe362=)
|
rs2143854600
|
|
NM_000152.5(GAA):c.1089G>A (p.Met363Ile)
|
|
|
NM_000152.5(GAA):c.108G>C (p.Leu36=)
|
rs1369758261
|
|
NM_000152.5(GAA):c.108G>T (p.Leu36=)
|
rs1369758261
|
|
NM_000152.5(GAA):c.1090C>T (p.Pro364Ser)
|
|
|
NM_000152.5(GAA):c.1091C>T (p.Pro364Leu)
|
|
|
NM_000152.5(GAA):c.1091del (p.Pro364fs)
|
rs2143854659
|
|
NM_000152.5(GAA):c.1092G>A (p.Pro364=)
|
rs777730774
|
|
NM_000152.5(GAA):c.1092G>C (p.Pro364=)
|
|
|
NM_000152.5(GAA):c.1095A>C (p.Pro365=)
|
rs1555600060
|
|
NM_000152.5(GAA):c.1097A>C (p.Tyr366Ser)
|
rs2143854757
|
|
NM_000152.5(GAA):c.1098C>T (p.Tyr366=)
|
rs2143854770
|
|
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg)
|
rs1555600061
|
|
NM_000152.5(GAA):c.1099del (p.Trp367fs)
|
rs1057516785
|
|
NM_000152.5(GAA):c.1100G>A (p.Trp367Ter)
|
rs1478500490
|
|
NM_000152.5(GAA):c.1103G>A (p.Gly368Asp)
|
rs368244038
|
|
NM_000152.5(GAA):c.1103G>T (p.Gly368Val)
|
rs368244038
|
|
NM_000152.5(GAA):c.1105C>T (p.Leu369=)
|
rs2143854883
|
|
NM_000152.5(GAA):c.1105dup (p.Leu369fs)
|
|
|
NM_000152.5(GAA):c.1106T>A (p.Leu369Gln)
|
|
|
NM_000152.5(GAA):c.1106T>C (p.Leu369Pro)
|
rs2039149745
|
|
NM_000152.5(GAA):c.1107G>A (p.Leu369=)
|
|
|
NM_000152.5(GAA):c.1107G>C (p.Leu369=)
|
|
|
NM_000152.5(GAA):c.1110C>T (p.Gly370=)
|
rs775172804
|
|
NM_000152.5(GAA):c.1111_1115delinsCCACTGGGG (p.Phe371fs)
|
|
|
NM_000152.5(GAA):c.1114C>T (p.His372Tyr)
|
rs1555600070
|
|
NM_000152.5(GAA):c.1115A>T (p.His372Leu)
|
rs1057516520
|
|
NM_000152.5(GAA):c.1117del (p.Leu373fs)
|
|
|
NM_000152.5(GAA):c.1118T>G (p.Leu373Arg)
|
rs2039150286
|
|
NM_000152.5(GAA):c.1119G>A (p.Leu373=)
|
rs763579808
|
|
NM_000152.5(GAA):c.1122C>T (p.Cys374=)
|
rs1342501706
|
|
NM_000152.5(GAA):c.1123C>A (p.Arg375Ser)
|
|
|
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu)
|
rs142752477
|
|
NM_000152.5(GAA):c.1128_1129delinsC (p.Trp376fs)
|
rs786204646
|
|
NM_000152.5(GAA):c.1129G>A (p.Gly377Ser)
|
rs752002666
|
|
NM_000152.5(GAA):c.1129G>T (p.Gly377Cys)
|
rs752002666
|
|
NM_000152.5(GAA):c.1130del (p.Gly377fs)
|
rs754134578
|
|
NM_000152.5(GAA):c.1132T>A (p.Tyr378Asn)
|
|
|
NM_000152.5(GAA):c.1132_1136delinsGGCTA (p.Tyr378_Ser379delinsGlyTyr)
|
rs1598577393
|
|
NM_000152.5(GAA):c.1134C>A (p.Tyr378Ter)
|
rs1567830317
|
|
NM_000152.5(GAA):c.1134C>G (p.Tyr378Ter)
|
rs1567830317
|
|
NM_000152.5(GAA):c.1134C>T (p.Tyr378=)
|
rs1567830317
|
|
NM_000152.5(GAA):c.1135TCC[1] (p.Ser380del)
|
|
|
NM_000152.5(GAA):c.1136C>A (p.Ser379Tyr)
|
rs377233099
|
|
NM_000152.5(GAA):c.1136C>T (p.Ser379Phe)
|
rs377233099
|
|
NM_000152.5(GAA):c.1137C>G (p.Ser379=)
|
rs2039151138
|
|
NM_000152.5(GAA):c.1140C>A (p.Ser380=)
|
rs1214685237
|
|
NM_000152.5(GAA):c.1140C>T (p.Ser380=)
|
rs1214685237
|
|
NM_000152.5(GAA):c.1143del (p.Ala382fs)
|
rs757458607
|
|
NM_000152.5(GAA):c.1144G>A (p.Ala382Thr)
|
rs1193750279
|
|
NM_000152.5(GAA):c.1149C>T (p.Ile383=)
|
|
|
NM_000152.5(GAA):c.1153del (p.Arg385fs)
|
rs1555600102
|
|
NM_000152.5(GAA):c.1155C>G (p.Arg385=)
|
|
|
NM_000152.5(GAA):c.1155C>T (p.Arg385=)
|
rs2143855573
|
|
NM_000152.5(GAA):c.1156C>T (p.Gln386Ter)
|
rs786204517
|
|
NM_000152.5(GAA):c.1158G>T (p.Gln386His)
|
rs1400466814
|
|
NM_000152.5(GAA):c.115C>A (p.Pro39Thr)
|
rs759236536
|
|
NM_000152.5(GAA):c.1160T>C (p.Val387Ala)
|
|
|
NM_000152.5(GAA):c.1160TGG[1] (p.Val388del)
|
|
|
NM_000152.5(GAA):c.1164G>A (p.Val388=)
|
rs2143855798
|
|
NM_000152.5(GAA):c.1165del (p.Glu389fs)
|
rs1555600111
|
|
NM_000152.5(GAA):c.1172T>A (p.Met391Lys)
|
|
|
NM_000152.5(GAA):c.1173G>A (p.Met391Ile)
|
rs2143855905
|
|
NM_000152.5(GAA):c.1176C>T (p.Thr392=)
|
rs2143855934
|
|
NM_000152.5(GAA):c.1178G>C (p.Arg393Thr)
|
|
|
NM_000152.5(GAA):c.117C>T (p.Pro39=)
|
|
|
NM_000152.5(GAA):c.1180G>A (p.Ala394Thr)
|
rs190889375
|
|
NM_000152.5(GAA):c.1182C>T (p.Ala394=)
|
rs771894765
|
|
NM_000152.5(GAA):c.1184A>G (p.His395Arg)
|
rs775121651
|
|
NM_000152.5(GAA):c.1185C>T (p.His395=)
|
rs2143856022
|
|
NM_000152.5(GAA):c.1188C>T (p.Phe396=)
|
rs756126944
|
|
NM_000152.5(GAA):c.118C>G (p.Arg40Gly)
|
rs767409395
|
|
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu)
|
rs776008078
|
|
NM_000152.5(GAA):c.1191C>G (p.Pro397=)
|
|
|
NM_000152.5(GAA):c.1192C>A (p.Leu398Met)
|
rs369707231
|
|
NM_000152.5(GAA):c.1192del (p.Leu398fs)
|
rs1057516546
|
|
NM_000152.5(GAA):c.1192dup (p.Leu398fs)
|
rs1057516546
|
|
NM_000152.5(GAA):c.1193T>C (p.Leu398Pro)
|
rs1598577666
|
|
NM_000152.5(GAA):c.1193del (p.Leu398fs)
|
rs1057517286
|
|
NM_000152.5(GAA):c.1194+10G>A
|
rs2143856297
|
|
NM_000152.5(GAA):c.1194+10G>T
|
|
|
NM_000152.5(GAA):c.1194+11G>T
|
|
|
NM_000152.5(GAA):c.1194+11del
|
rs2143856264
|
|
NM_000152.5(GAA):c.1194+13G>A
|
|
|
NM_000152.5(GAA):c.1194+15T>A
|
|
|
NM_000152.5(GAA):c.1194+15T>C
|
|
|
NM_000152.5(GAA):c.1194+19dup
|
|
|
NM_000152.5(GAA):c.1194+20G>C
|
|
|
NM_000152.5(GAA):c.1194+2T>C
|
rs1057516215
|
|
NM_000152.5(GAA):c.1194+2T>G
|
|
|
NM_000152.5(GAA):c.1194+3G>T
|
rs368539333
|
|
NM_000152.5(GAA):c.1194+5G>A
|
rs2039153749
|
|
NM_000152.5(GAA):c.1194+6T>C
|
rs1470004759
|
|
NM_000152.5(GAA):c.1194+8G>T
|
rs2143856250
|
|
NM_000152.5(GAA):c.1194+9G>A
|
|
|
NM_000152.5(GAA):c.1194+9G>T
|
|
|
NM_000152.5(GAA):c.1195-15G>C
|
rs373840229
|
|
NM_000152.5(GAA):c.1195-16C>T
|
|
|
NM_000152.5(GAA):c.1195-17C>G
|
|
|
NM_000152.5(GAA):c.1195-18C>A
|
|
|
NM_000152.5(GAA):c.1195-19T>C
|
|
|
NM_000152.5(GAA):c.1195-19_2190-17del
|
|
|
NM_000152.5(GAA):c.1195-1G>A
|
rs1555600166
|
|
NM_000152.5(GAA):c.1195-2A>C
|
rs765360653
|
|
NM_000152.5(GAA):c.1195-2A>G
|
rs765360653
|
|
NM_000152.5(GAA):c.1195-4G>A
|
|
|
NM_000152.5(GAA):c.1195-5T>C
|
rs2143856963
|
|
NM_000152.5(GAA):c.1195-7del
|
|
|
NM_000152.5(GAA):c.1195-9T>C
|
rs2143856933
|
|
NM_000152.5(GAA):c.1198del (p.Val400fs)
|
|
|
NM_000152.5(GAA):c.1200C>T (p.Val400=)
|
|
|
NM_000152.5(GAA):c.1205G>A (p.Trp402Ter)
|
|
|
NM_000152.5(GAA):c.1209C>T (p.Asn403=)
|
rs751333479
|
|
NM_000152.5(GAA):c.1212C>T (p.Asp404=)
|
rs2143857187
|
|
NM_000152.5(GAA):c.1214T>C (p.Leu405Pro)
|
rs2143857207
|
|
NM_000152.5(GAA):c.1215G>A (p.Leu405=)
|
|
|
NM_000152.5(GAA):c.1216G>A (p.Asp406Asn)
|
rs1555600179
|
|
NM_000152.5(GAA):c.1218C>T (p.Asp406=)
|
rs2039157400
|
|
NM_000152.5(GAA):c.1219T>C (p.Tyr407His)
|
rs727503939
|
|
NM_000152.5(GAA):c.1220A>G (p.Tyr407Cys)
|
|
|
NM_000152.5(GAA):c.1223T>C (p.Met408Thr)
|
|
|
NM_000152.5(GAA):c.1225dup (p.Asp409fs)
|
rs2039157751
|
|
NM_000152.5(GAA):c.1226_1227insG (p.Asp409fs)
|
rs1598578030
|
|
NM_000152.5(GAA):c.1228T>C (p.Ser410Pro)
|
rs2039157992
|
|
NM_000152.5(GAA):c.1230C>A (p.Ser410=)
|
rs746340075
|
|
NM_000152.5(GAA):c.1232G>C (p.Arg411Pro)
|
rs372799904
|
|
NM_000152.5(GAA):c.1234A>C (p.Arg412=)
|
|
|
NM_000152.5(GAA):c.1234_1236dup (p.Arg412dup)
|
rs2143857460
|
|
NM_000152.5(GAA):c.1236G>A (p.Arg412=)
|
|
|
NM_000152.5(GAA):c.1239C>T (p.Asp413=)
|
rs2039158556
|
|
NM_000152.5(GAA):c.1240T>C (p.Phe414Leu)
|
rs886042630
|
|
NM_000152.5(GAA):c.1241del (p.Phe414fs)
|
|
|
NM_000152.5(GAA):c.1242_1244del (p.Phe414_Thr415delinsLeu)
|
rs1555600194
|
|
NM_000152.5(GAA):c.1243_1244del (p.Thr415fs)
|
|
|
NM_000152.5(GAA):c.1246T>G (p.Phe416Val)
|
|
|
NM_000152.5(GAA):c.1253A>G (p.Lys418Arg)
|
rs2039159106
|
|
NM_000152.5(GAA):c.1254G>A (p.Lys418=)
|
rs769131433
|
|
NM_000152.5(GAA):c.1256A>G (p.Asp419Gly)
|
rs1397577545
|
|
NM_000152.5(GAA):c.1260C>A (p.Gly420=)
|
|
|
NM_000152.5(GAA):c.1260C>G (p.Gly420=)
|
|
|
NM_000152.5(GAA):c.1267G>A (p.Asp423Asn)
|
|
|
NM_000152.5(GAA):c.126G>C (p.Leu42=)
|
rs2143825047
|
|
NM_000152.5(GAA):c.1273C>A (p.Pro425Thr)
|
rs1283810246
|
|
NM_000152.5(GAA):c.1273C>T (p.Pro425Ser)
|
rs1283810246
|
|
NM_000152.5(GAA):c.1274del (p.Pro425fs)
|
|
|
NM_000152.5(GAA):c.1276G>A (p.Ala426Thr)
|
rs2143857881
|
|
NM_000152.5(GAA):c.1278C>T (p.Ala426=)
|
|
|
NM_000152.5(GAA):c.1280T>C (p.Met427Thr)
|
rs1555600212
|
|
NM_000152.5(GAA):c.1284G>T (p.Val428=)
|
rs2143857912
|
|
NM_000152.5(GAA):c.1285C>T (p.Gln429Ter)
|
|
|
NM_000152.5(GAA):c.1293G>T (p.Leu431=)
|
rs1172862164
|
|
NM_000152.5(GAA):c.1293_1312del (p.Gln433fs)
|
|
|
NM_000152.5(GAA):c.1296C>T (p.His432=)
|
rs2143858058
|
|
NM_000152.5(GAA):c.1298_1301delinsTCCTGCACCATGGC (p.Gln433fs)
|
rs2143858151
|
|
NM_000152.5(GAA):c.1303G>A (p.Gly435Ser)
|
|
|
NM_000152.5(GAA):c.1306C>A (p.Arg436=)
|
|
|
NM_000152.5(GAA):c.1308del (p.Arg437fs)
|
rs2143858305
|
|
NM_000152.5(GAA):c.1309C>A (p.Arg437Ser)
|
|
|
NM_000152.5(GAA):c.1311C>T (p.Arg437=)
|
rs1234415461
|
|
NM_000152.5(GAA):c.1314C>A (p.Tyr438Ter)
|
|
|
NM_000152.5(GAA):c.1314C>T (p.Tyr438=)
|
|
|
NM_000152.5(GAA):c.1315A>G (p.Met439Val)
|
|
|
NM_000152.5(GAA):c.1317G>A (p.Met439Ile)
|
rs991245388
|
|
NM_000152.5(GAA):c.1317GAT[1] (p.Met440del)
|
rs1555600235
|
|
NM_000152.5(GAA):c.1320G>A (p.Met440Ile)
|
|
|
NM_000152.5(GAA):c.1320G>C (p.Met440Ile)
|
rs550837627
|
|
NM_000152.5(GAA):c.1323C>A (p.Ile441=)
|
|
|
NM_000152.5(GAA):c.1326+12C>G
|
|
|
NM_000152.5(GAA):c.1326+12del
|
|
|
NM_000152.5(GAA):c.1326+15A>G
|
rs2143858786
|
|
NM_000152.5(GAA):c.1326+16C>G
|
|
|
NM_000152.5(GAA):c.1326+16C>T
|
|
|
NM_000152.5(GAA):c.1326+20G>T
|
rs774138443
|
|
NM_000152.5(GAA):c.1326+2T>C
|
rs1434761678
|
|
NM_000152.5(GAA):c.1326+6T>C
|
rs1199225255
|
|
NM_000152.5(GAA):c.1326+7G>A
|
|
|
NM_000152.5(GAA):c.1326+8C>G
|
|
|
NM_000152.5(GAA):c.1326+8C>T
|
rs762988038
|
|
NM_000152.5(GAA):c.1326G>A (p.Val442=)
|
|
|
NM_000152.5(GAA):c.1327-10C>T
|
|
|
NM_000152.5(GAA):c.1327-12C>T
|
|
|
NM_000152.5(GAA):c.1327-16G>A
|
|
|
NM_000152.5(GAA):c.1327-16G>T
|
rs1378637239
|
|
NM_000152.5(GAA):c.1327-18A>C
|
|
|
NM_000152.5(GAA):c.1327-19_1327-18inv
|
|
|
NM_000152.5(GAA):c.1327-20A>G
|
rs2143865452
|
|
NM_000152.5(GAA):c.1327-4C>T
|
|
|
NM_000152.5(GAA):c.1327-58_1352del
|
|
|
NM_000152.5(GAA):c.1327-5C>A
|
rs1314883749
|
|
NM_000152.5(GAA):c.1327-5C>T
|
|
|
NM_000152.5(GAA):c.1327-7T>G
|
rs774490566
|
|
NM_000152.5(GAA):c.1327-8C>T
|
rs1598579967
|
|
NM_000152.5(GAA):c.1327-9T>C
|
|
|
NM_000152.5(GAA):c.132C>T (p.Gly44=)
|
rs2143825106
|
|
NM_000152.5(GAA):c.1336A>G (p.Ile446Val)
|
rs775612060
|
|
NM_000152.5(GAA):c.1336_1356dup (p.Ile446_Ala452dup)
|
rs1555600488
|
|
NM_000152.5(GAA):c.1336dup (p.Ile446fs)
|
rs2143865725
|
|
NM_000152.5(GAA):c.133T>G (p.Ser45Ala)
|
rs1322709296
|
|
NM_000152.5(GAA):c.133del (p.Ser45fs)
|
|
|
NM_000152.5(GAA):c.1341C>T (p.Ser447=)
|
|
|
NM_000152.5(GAA):c.1343G>T (p.Ser448Ile)
|
rs145712232
|
|
NM_000152.5(GAA):c.1345T>G (p.Ser449Ala)
|
|
|
NM_000152.5(GAA):c.1346C>T (p.Ser449Leu)
|
rs753483808
|
|
NM_000152.5(GAA):c.1347G>C (p.Ser449=)
|
rs756938942
|
|
NM_000152.5(GAA):c.1347_1365dup (p.Arg456fs)
|
rs2039190879
|
|
NM_000152.5(GAA):c.134C>T (p.Ser45Phe)
|
rs1179395024
|
|
NM_000152.5(GAA):c.1356_1365del (p.Ser454fs)
|
|
|
NM_000152.5(GAA):c.1356del (p.Ser454fs)
|
rs2039191420
|
|
NM_000152.5(GAA):c.1358G>A (p.Gly453Glu)
|
rs2039191662
|
|
NM_000152.5(GAA):c.1359G>A (p.Gly453=)
|
rs2143866026
|
|
NM_000152.5(GAA):c.135C>T (p.Ser45=)
|
rs2143825187
|
|
NM_000152.5(GAA):c.1362C>T (p.Ser454=)
|
|
|
NM_000152.5(GAA):c.1364A>G (p.Tyr455Cys)
|
|
|
NM_000152.5(GAA):c.1365del (p.Ser454_Tyr455insTer)
|
|
|
NM_000152.5(GAA):c.1369C>T (p.Pro457Ser)
|
|
|
NM_000152.5(GAA):c.1370C>G (p.Pro457Arg)
|
|
|
NM_000152.5(GAA):c.1370C>T (p.Pro457Leu)
|
rs2039191855
|
|
NM_000152.5(GAA):c.1372T>C (p.Tyr458His)
|
rs1567832012
|
|
NM_000152.5(GAA):c.1374_1375delinsTA (p.Asp459Asn)
|
rs2143866239
|
|
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn)
|
rs535644999
|
|
NM_000152.5(GAA):c.1375G>C (p.Asp459His)
|
rs535644999
|
|
NM_000152.5(GAA):c.1375G>T (p.Asp459Tyr)
|
rs535644999
|
|
NM_000152.5(GAA):c.1376A>T (p.Asp459Val)
|
rs2143866303
|
|
NM_000152.5(GAA):c.1376_1377del (p.Asp459fs)
|
rs2143866321
|
|
NM_000152.5(GAA):c.1377C>T (p.Asp459=)
|
rs778121058
|
|
NM_000152.5(GAA):c.1377dup (p.Glu460fs)
|
rs2039192386
|
|
NM_000152.5(GAA):c.1380G>C (p.Glu460Asp)
|
|
|
NM_000152.5(GAA):c.1382G>A (p.Gly461Asp)
|
rs1277491722
|
|
NM_000152.5(GAA):c.1385T>C (p.Leu462Pro)
|
rs2143866454
|
|
NM_000152.5(GAA):c.1386G>T (p.Leu462=)
|
|
|
NM_000152.5(GAA):c.1388_1405del (p.Arg463_Thr469delinsPro)
|
rs2039192921
|
|
NM_000152.5(GAA):c.138C>G (p.Ser46=)
|
rs753375900
|
|
NM_000152.5(GAA):c.1390A>C (p.Arg464=)
|
|
|
NM_000152.5(GAA):c.1390A>T (p.Arg464Trp)
|
rs2039193001
|
|
NM_000152.5(GAA):c.1392G>A (p.Arg464=)
|
rs372786811
|
|
NM_000152.5(GAA):c.1392_1393delinsTT (p.Arg464_Gly465delinsSerTrp)
|
|
|
NM_000152.5(GAA):c.1393G>C (p.Gly465Arg)
|
|
|
NM_000152.5(GAA):c.1393G>T (p.Gly465Trp)
|
|
|
NM_000152.5(GAA):c.1395G>A (p.Gly465=)
|
rs2143866655
|
|
NM_000152.5(GAA):c.1396G>C (p.Val466Leu)
|
rs375006053
|
|
NM_000152.5(GAA):c.1396G>T (p.Val466Phe)
|
|
|
NM_000152.5(GAA):c.1396del (p.Val466fs)
|
rs1273392818
|
|
NM_000152.5(GAA):c.1396dup (p.Val466fs)
|
|
|
NM_000152.5(GAA):c.1398_1400dup (p.Phe467dup)
|
rs2039193694
|
|
NM_000152.5(GAA):c.1400T>C (p.Phe467Ser)
|
|
|
NM_000152.5(GAA):c.1402A>C (p.Ile468Leu)
|
rs886043148
|
|
NM_000152.5(GAA):c.1407del (p.Asn470fs)
|
|
|
NM_000152.5(GAA):c.1408_1410del (p.Asn470del)
|
rs748893499
|
|
NM_000152.5(GAA):c.1409A>G (p.Asn470Ser)
|
|
|
NM_000152.5(GAA):c.1410C>A (p.Asn470Lys)
|
rs886043068
|
|
NM_000152.5(GAA):c.1416C>A (p.Thr472=)
|
rs368492669
|
|
NM_000152.5(GAA):c.1416C>G (p.Thr472=)
|
rs368492669
|
|
NM_000152.5(GAA):c.1417_1420del (p.Gly473fs)
|
|
|
NM_000152.5(GAA):c.1422G>A (p.Gln474=)
|
|
|
NM_000152.5(GAA):c.1424C>T (p.Pro475Leu)
|
|
|
NM_000152.5(GAA):c.1426C>A (p.Leu476Met)
|
rs756613882
|
|
NM_000152.5(GAA):c.1426C>T (p.Leu476=)
|
|
|
NM_000152.5(GAA):c.1426_1429delinsGTTGG (p.Leu476fs)
|
rs2039195145
|
|
NM_000152.5(GAA):c.1427T>C (p.Leu476Pro)
|
rs2039195201
|
|
NM_000152.5(GAA):c.1431T>G (p.Ile477Met)
|
rs1598580369
|
|
NM_000152.5(GAA):c.1431del (p.Ile477fs)
|
rs1598580364
|
|
NM_000152.5(GAA):c.1432G>A (p.Gly478Arg)
|
rs778068209
|
|
NM_000152.5(GAA):c.1434G>A (p.Gly478=)
|
rs886043285
|
|
NM_000152.5(GAA):c.1437+15C>T
|
rs2143867420
|
|
NM_000152.5(GAA):c.1437+16A>G
|
|
|
NM_000152.5(GAA):c.1437+16_1437+22dup
|
|
|
NM_000152.5(GAA):c.1437+18G>C
|
|
|
NM_000152.5(GAA):c.1437+1G>A
|
rs1555600575
|
|
NM_000152.5(GAA):c.1437+20G>A
|
rs768737799
|
|
NM_000152.5(GAA):c.1437+20G>C
|
|
|
NM_000152.5(GAA):c.1437+20G>T
|
|
|
NM_000152.5(GAA):c.1437+2T>C
|
rs1598580407
|
|
NM_000152.5(GAA):c.1437+7C>G
|
rs757605518
|
|
NM_000152.5(GAA):c.1437+7C>T
|
rs757605518
|
|
NM_000152.5(GAA):c.1437+8G>C
|
rs779194427
|
|
NM_000152.5(GAA):c.1437G>A (p.Lys479=)
|
rs796051877
|
|
NM_000152.5(GAA):c.1437G>C (p.Lys479Asn)
|
|
|
NM_000152.5(GAA):c.1438-10C>G
|
rs1029231930
|
|
NM_000152.5(GAA):c.1438-12C>G
|
|
|
NM_000152.5(GAA):c.1438-12C>T
|
|
|
NM_000152.5(GAA):c.1438-13T>C
|
rs1598581379
|
|
NM_000152.5(GAA):c.1438-14C>T
|
|
|
NM_000152.5(GAA):c.1438-15_1438-1del
|
rs1567832762
|
|
NM_000152.5(GAA):c.1438-19G>A
|
|
|
NM_000152.5(GAA):c.1438-1G>A
|
|
|
NM_000152.5(GAA):c.1438-1G>C
|
rs147804176
|
|
NM_000152.5(GAA):c.1438-1G>T
|
rs147804176
|
|
NM_000152.5(GAA):c.1438-2A>G
|
rs1555600730
|
|
NM_000152.5(GAA):c.1438-6G>C
|
rs1252384762
|
|
NM_000152.5(GAA):c.1438-7T>C
|
rs1484346995
|
|
NM_000152.5(GAA):c.1438-7_1438-5del
|
rs764583466
|
|
NM_000152.5(GAA):c.1438-9G>C
|
|
|
NM_000152.5(GAA):c.1438-9G>T
|
rs202211401
|
|
NM_000152.5(GAA):c.1439T>A (p.Val480Glu)
|
|
|
NM_000152.5(GAA):c.1439T>C (p.Val480Ala)
|
rs1224298513
|
|
NM_000152.5(GAA):c.1440A>G (p.Val480=)
|
rs1555600737
|
|
NM_000152.5(GAA):c.1441T>A (p.Trp481Arg)
|
|
|
NM_000152.5(GAA):c.1443G>A (p.Trp481Ter)
|
rs2143871845
|
|
NM_000152.5(GAA):c.1445C>G (p.Pro482Arg)
|
rs2039212985
|
|
NM_000152.5(GAA):c.1445C>T (p.Pro482Leu)
|
rs2039212985
|
|
NM_000152.5(GAA):c.1446C>T (p.Pro482=)
|
rs529513250
|
|
NM_000152.5(GAA):c.144C>T (p.Val48=)
|
rs1055575232
|
|
NM_000152.5(GAA):c.1453A>C (p.Thr485Pro)
|
rs1337100943
|
|
NM_000152.5(GAA):c.1454C>T (p.Thr485Ile)
|
rs2143872073
|
|
NM_000152.5(GAA):c.1455T>C (p.Thr485=)
|
rs774037839
|
|
NM_000152.5(GAA):c.1456G>A (p.Ala486Thr)
|
rs1283045273
|
|
NM_000152.5(GAA):c.1456G>C (p.Ala486Pro)
|
|
|
NM_000152.5(GAA):c.1456G>T (p.Ala486Ser)
|
|
|
NM_000152.5(GAA):c.1457C>T (p.Ala486Val)
|
rs2039213698
|
|
NM_000152.5(GAA):c.1461C>T (p.Phe487=)
|
|
|
NM_000152.5(GAA):c.1463C>T (p.Pro488Leu)
|
rs2143872219
|
|
NM_000152.5(GAA):c.1464dup (p.Asp489fs)
|
rs2039213824
|
|
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn)
|
rs398123169
|
|
NM_000152.5(GAA):c.1466A>G (p.Asp489Gly)
|
|
|
NM_000152.5(GAA):c.1468T>C (p.Phe490Leu)
|
rs2143872278
|
|
NM_000152.5(GAA):c.1469T>G (p.Phe490Cys)
|
|
|
NM_000152.5(GAA):c.1472_1474del (p.Thr491del)
|
|
|
NM_000152.5(GAA):c.1477C>T (p.Pro493Ser)
|
|
|
NM_000152.5(GAA):c.147G>A (p.Leu49=)
|
rs915625623
|
|
NM_000152.5(GAA):c.1484C>T (p.Ala495Val)
|
|
|
NM_000152.5(GAA):c.1486C>T (p.Leu496=)
|
rs1598581572
|
|
NM_000152.5(GAA):c.148G>A (p.Glu50Lys)
|
rs1555598609
|
|
NM_000152.5(GAA):c.148G>T (p.Glu50Ter)
|
rs1555598609
|
|
NM_000152.5(GAA):c.148_859-11del
|
|
|
NM_000152.5(GAA):c.1494del (p.Trp498fs)
|
|
|
NM_000152.5(GAA):c.1496G>A (p.Trp499Ter)
|
rs766680292
|
|
NM_000152.5(GAA):c.1498G>A (p.Glu500Lys)
|
rs1473805095
|
|
NM_000152.5(GAA):c.1502A>G (p.Asp501Gly)
|
rs2143872652
|
|
NM_000152.5(GAA):c.1508T>C (p.Val503Ala)
|
|
|
NM_000152.5(GAA):c.1509G>A (p.Val503=)
|
rs2143872732
|
|
NM_000152.5(GAA):c.1518C>G (p.Phe506Leu)
|
rs1464913441
|
|
NM_000152.5(GAA):c.1518C>T (p.Phe506=)
|
rs1464913441
|
|
NM_000152.5(GAA):c.1519dup (p.His507fs)
|
rs2039216097
|
|
NM_000152.5(GAA):c.1525C>T (p.Gln509Ter)
|
|
|
NM_000152.5(GAA):c.1527G>A (p.Gln509=)
|
|
|
NM_000152.5(GAA):c.1532C>T (p.Pro511Leu)
|
|
|
NM_000152.5(GAA):c.1533C>G (p.Pro511=)
|
rs1598581655
|
|
NM_000152.5(GAA):c.1536C>A (p.Phe512Leu)
|
rs143491365
|
|
NM_000152.5(GAA):c.1536C>T (p.Phe512=)
|
rs143491365
|
|
NM_000152.5(GAA):c.1538A>G (p.Asp513Gly)
|
rs1598581682
|
|
NM_000152.5(GAA):c.1540G>A (p.Gly514Ser)
|
rs777571608
|
|
NM_000152.5(GAA):c.1546T>C (p.Trp516Arg)
|
|
|
NM_000152.5(GAA):c.1547G>A (p.Trp516Ter)
|
rs2039217093
|
|
NM_000152.5(GAA):c.1551+10G>A
|
|
|
NM_000152.5(GAA):c.1551+10dup
|
rs2143873218
|
|
NM_000152.5(GAA):c.1551+11C>T
|
|
|
NM_000152.5(GAA):c.1551+15C>G
|
|
|
NM_000152.5(GAA):c.1551+15del
|
|
|
NM_000152.5(GAA):c.1551+1G>A
|
rs770780848
|
|
NM_000152.5(GAA):c.1551+1G>C
|
rs770780848
|
|
NM_000152.5(GAA):c.1551+20G>A
|
|
|
NM_000152.5(GAA):c.1551+4A>C
|
|
|
NM_000152.5(GAA):c.1551+5G>A
|
rs2039217485
|
|
NM_000152.5(GAA):c.1551+6T>C
|
|
|
NM_000152.5(GAA):c.1551+7G>T
|
rs1340464172
|
|
NM_000152.5(GAA):c.1552-10del
|
|
|
NM_000152.5(GAA):c.1552-12C>A
|
rs2143873890
|
|
NM_000152.5(GAA):c.1552-14_1552-1del
|
rs1567833173
|
|
NM_000152.5(GAA):c.1552-16A>G
|
|
|
NM_000152.5(GAA):c.1552-20C>T
|
|
|
NM_000152.5(GAA):c.1552-2A>G
|
rs1555600846
|
|
NM_000152.5(GAA):c.1552-3C>T
|
rs375470378
|
|
NM_000152.5(GAA):c.1552-7C>G
|
|
|
NM_000152.5(GAA):c.1552-7C>T
|
rs2039221235
|
|
NM_000152.5(GAA):c.1552-8T>C
|
rs2039221161
|
|
NM_000152.5(GAA):c.1553_1555dup (p.Asp518_Met519insAsn)
|
rs2039221468
|
|
NM_000152.5(GAA):c.1555A>G (p.Met519Val)
|
rs1598581919
|
|
NM_000152.5(GAA):c.1557G>A (p.Met519Ile)
|
rs1447365901
|
|
NM_000152.5(GAA):c.1557_1561dup (p.Glu521fs)
|
rs2143874124
|
|
NM_000152.5(GAA):c.1559A>G (p.Asn520Ser)
|
rs1555600852
|
|
NM_000152.5(GAA):c.1559A>T (p.Asn520Ile)
|
|
|
NM_000152.5(GAA):c.1559del (p.Asn520fs)
|
rs2143874154
|
|
NM_000152.5(GAA):c.1560del (p.Asn520fs)
|
|
|
NM_000152.5(GAA):c.1561G>C (p.Glu521Gln)
|
|
|
NM_000152.5(GAA):c.1561del (p.Glu521fs)
|
|
|
NM_000152.5(GAA):c.1562A>T (p.Glu521Val)
|
rs1455277014
|
|
NM_000152.5(GAA):c.1564C>A (p.Pro522Thr)
|
rs892129065
|
|
NM_000152.5(GAA):c.1564C>G (p.Pro522Ala)
|
rs892129065
|
|
NM_000152.5(GAA):c.1565C>T (p.Pro522Leu)
|
rs2143874287
|
|
NM_000152.5(GAA):c.1567del (p.Ser523fs)
|
rs1057517267
|
|
NM_000152.5(GAA):c.1568C>G (p.Ser523Cys)
|
rs2039222579
|
|
NM_000152.5(GAA):c.156T>A (p.Thr52=)
|
rs2143825403
|
|
NM_000152.5(GAA):c.156_157del (p.His53fs)
|
|
|
NM_000152.5(GAA):c.1572C>G (p.Asn524Lys)
|
rs1417304813
|
|
NM_000152.5(GAA):c.1572C>T (p.Asn524=)
|
rs1417304813
|
|
NM_000152.5(GAA):c.1575_1576del (p.Ile526fs)
|
|
|
NM_000152.5(GAA):c.1575dup (p.Ile526fs)
|
rs2143874398
|
|
NM_000152.5(GAA):c.1576A>G (p.Ile526Val)
|
rs2039222806
|
|
NM_000152.5(GAA):c.1579A>G (p.Arg527Gly)
|
|
|
NM_000152.5(GAA):c.1579_1580del (p.Arg527fs)
|
rs1291214871
|
|
NM_000152.5(GAA):c.1579del (p.Arg527fs)
|
rs2039222879
|
|
NM_000152.5(GAA):c.1580G>A (p.Arg527Lys)
|
|
|
NM_000152.5(GAA):c.1583G>C (p.Gly528Ala)
|
rs794727016
|
|
NM_000152.5(GAA):c.1583G>T (p.Gly528Val)
|
|
|
NM_000152.5(GAA):c.1585T>C (p.Ser529Pro)
|
rs1598582021
|
|
NM_000152.5(GAA):c.1587del (p.Glu530fs)
|
|
|
NM_000152.5(GAA):c.1589del (p.Glu530fs)
|
|
|
NM_000152.5(GAA):c.1594G>C (p.Gly532Arg)
|
|
|
NM_000152.5(GAA):c.1594G>T (p.Gly532Cys)
|
rs773576381
|
|
NM_000152.5(GAA):c.159C>A (p.His53Gln)
|
|
|
NM_000152.5(GAA):c.159C>T (p.His53=)
|
rs2143825464
|
|
NM_000152.5(GAA):c.1601C>G (p.Pro534Arg)
|
rs1039935633
|
|
NM_000152.5(GAA):c.1601C>T (p.Pro534Leu)
|
rs1039935633
|
|
NM_000152.5(GAA):c.1602C>A (p.Pro534=)
|
rs1241189076
|
|
NM_000152.5(GAA):c.1602_1605delinsAGG (p.Asn535fs)
|
rs2143874754
|
|
NM_000152.5(GAA):c.1605C>A (p.Asn535Lys)
|
rs1351247900
|
|
NM_000152.5(GAA):c.1606A>G (p.Asn536Asp)
|
rs2039224225
|
|
NM_000152.5(GAA):c.1608T>G (p.Asn536Lys)
|
rs2039224372
|
|
NM_000152.5(GAA):c.1611G>T (p.Glu537Asp)
|
|
|
NM_000152.5(GAA):c.1612C>T (p.Leu538=)
|
|
|
NM_000152.5(GAA):c.1616A>G (p.Glu539Gly)
|
|
|
NM_000152.5(GAA):c.1619A>G (p.Asn540Ser)
|
rs2039224662
|
|
NM_000152.5(GAA):c.161C>T (p.Pro54Leu)
|
rs768898668
|
|
NM_000152.5(GAA):c.1621_1622del (p.Pro541fs)
|
|
|
NM_000152.5(GAA):c.1625C>T (p.Pro542Leu)
|
rs1598582130
|
|
NM_000152.5(GAA):c.1628A>G (p.Tyr543Cys)
|
rs1160583761
|
|
NM_000152.5(GAA):c.1629_1630delinsTA (p.Val544Met)
|
rs1598582152
|
|
NM_000152.5(GAA):c.1631T>A (p.Val544Glu)
|
rs1567833361
|
|
NM_000152.5(GAA):c.1632G>C (p.Val544=)
|
|
|
NM_000152.5(GAA):c.1632G>T (p.Val544=)
|
|
|
NM_000152.5(GAA):c.1633C>T (p.Pro545Ser)
|
rs2143875175
|
|
NM_000152.5(GAA):c.1635T>A (p.Pro545=)
|
|
|
NM_000152.5(GAA):c.1636+10C>G
|
rs778634411
|
|
NM_000152.5(GAA):c.1636+10C>T
|
rs778634411
|
|
NM_000152.5(GAA):c.1636+11C>T
|
|
|
NM_000152.5(GAA):c.1636+12C>G
|
|
|
NM_000152.5(GAA):c.1636+12C>T
|
|
|
NM_000152.5(GAA):c.1636+15C>G
|
|
|
NM_000152.5(GAA):c.1636+15C>T
|
|
|
NM_000152.5(GAA):c.1636+15dup
|
rs765563836
|
|
NM_000152.5(GAA):c.1636+17C>T
|
rs1003384850
|
|
NM_000152.5(GAA):c.1636+18C>T
|
|
|
NM_000152.5(GAA):c.1636+19T>A
|
|
|
NM_000152.5(GAA):c.1636+1G>A
|
|
|
NM_000152.5(GAA):c.1636+460_2672del
|
|
|
NM_000152.5(GAA):c.1636+7del
|
|
|
NM_000152.5(GAA):c.1636+9G>T
|
rs200302174
|
|
NM_000152.5(GAA):c.1637-10C>T
|
rs2143881993
|
|
NM_000152.5(GAA):c.1637-10_1637-9delinsGA
|
rs2143882002
|
|
NM_000152.5(GAA):c.1637-11G>C
|
|
|
NM_000152.5(GAA):c.1637-12_1637-9del
|
|
|
NM_000152.5(GAA):c.1637-12dup
|
|
|
NM_000152.5(GAA):c.1637-19C>T
|
|
|
NM_000152.5(GAA):c.1637-2A>G
|
rs2143882034
|
|
NM_000152.5(GAA):c.1637-9C>T
|
rs1598583515
|
|
NM_000152.5(GAA):c.1638G>A (p.Gly546=)
|
rs1260256483
|
|
NM_000152.5(GAA):c.1638_1639delinsCA (p.Val547Met)
|
|
|
NM_000152.5(GAA):c.1642G>T (p.Val548Phe)
|
rs1567834141
|
|
NM_000152.5(GAA):c.1645G>A (p.Gly549Arg)
|
|
|
NM_000152.5(GAA):c.1646G>A (p.Gly549Glu)
|
|
|
NM_000152.5(GAA):c.1646G>C (p.Gly549Ala)
|
rs2039246325
|
|
NM_000152.5(GAA):c.1649G>T (p.Gly550Val)
|
rs2039246464
|
|
NM_000152.5(GAA):c.1650G>A (p.Gly550=)
|
rs747638133
|
|
NM_000152.5(GAA):c.1650del (p.Thr551fs)
|
rs766398206
|
|
NM_000152.5(GAA):c.1650dup (p.Thr551fs)
|
rs766398206
|
|
NM_000152.5(GAA):c.1651_1656del (p.Thr551_Leu552del)
|
|
|
NM_000152.5(GAA):c.1654C>T (p.Leu552Phe)
|
|
|
NM_000152.5(GAA):c.1654del (p.Leu552fs)
|
rs2039246615
|
|
NM_000152.5(GAA):c.1656C>A (p.Leu552=)
|
rs2039246860
|
|
NM_000152.5(GAA):c.1657C>T (p.Gln553Ter)
|
rs1221156663
|
|
NM_000152.5(GAA):c.1658A>G (p.Gln553Arg)
|
rs746401921
|
|
NM_000152.5(GAA):c.1663G>C (p.Ala555Pro)
|
|
|
NM_000152.5(GAA):c.1668C>T (p.Thr556=)
|
rs1415372735
|
|
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe)
|
rs747150965
|
|
NM_000152.5(GAA):c.166C>A (p.His56Asn)
|
|
|
NM_000152.5(GAA):c.1670T>G (p.Ile557Ser)
|
rs1408164312
|
|
NM_000152.5(GAA):c.1671C>A (p.Ile557=)
|
|
|
NM_000152.5(GAA):c.1673G>A (p.Cys558Tyr)
|
|
|
NM_000152.5(GAA):c.1674T>C (p.Cys558=)
|
rs2143882693
|
|
NM_000152.5(GAA):c.1674_1675del (p.Ala559fs)
|
rs2143882664
|
|
NM_000152.5(GAA):c.1679C>T (p.Ser560Phe)
|
rs576056187
|
|
NM_000152.5(GAA):c.167A>T (p.His56Leu)
|
rs113740017
|
|
NM_000152.5(GAA):c.1680C>T (p.Ser560=)
|
rs2143882734
|
|
NM_000152.5(GAA):c.1683C>T (p.Ser561=)
|
rs2143882764
|
|
NM_000152.5(GAA):c.1686C>T (p.His562=)
|
|
|
NM_000152.5(GAA):c.1687C>T (p.Gln563Ter)
|
rs1057516426
|
|
NM_000152.5(GAA):c.1692T>C (p.Phe564=)
|
rs886043997
|
|
NM_000152.5(GAA):c.1692T>G (p.Phe564Leu)
|
rs886043997
|
|
NM_000152.5(GAA):c.1692del (p.Leu565fs)
|
rs1555601234
|
|
NM_000152.5(GAA):c.1693C>T (p.Leu565Phe)
|
|
|
NM_000152.5(GAA):c.1694_1697del (p.Leu565fs)
|
|
|
NM_000152.5(GAA):c.1695C>G (p.Leu565=)
|
rs2143882915
|
|
NM_000152.5(GAA):c.1697C>T (p.Ser566Phe)
|
|
|
NM_000152.5(GAA):c.1699A>C (p.Thr567Pro)
|
rs543222774
|
|
NM_000152.5(GAA):c.169C>T (p.Gln57Ter)
|
rs1057516251
|
|
NM_000152.5(GAA):c.16C>T (p.Pro6Ser)
|
rs1424116613
|
|
NM_000152.5(GAA):c.1703A>G (p.His568Arg)
|
|
|
NM_000152.5(GAA):c.1703A>T (p.His568Leu)
|
rs2143882997
|
|
NM_000152.5(GAA):c.1704C>G (p.His568Gln)
|
rs776882059
|
|
NM_000152.5(GAA):c.1704C>T (p.His568=)
|
rs776882059
|
|
NM_000152.5(GAA):c.1704dup (p.Tyr569fs)
|
rs2143883054
|
|
NM_000152.5(GAA):c.1705dup (p.Tyr569fs)
|
rs2143883097
|
|
NM_000152.5(GAA):c.1707C>G (p.Tyr569Ter)
|
|
|
NM_000152.5(GAA):c.1709A>G (p.Asn570Ser)
|
|
|
NM_000152.5(GAA):c.1711C>G (p.Leu571Val)
|
|
|
NM_000152.5(GAA):c.1711C>T (p.Leu571=)
|
rs1405669960
|
|
NM_000152.5(GAA):c.1714C>T (p.His572Tyr)
|
|
|
NM_000152.5(GAA):c.1715A>C (p.His572Pro)
|
rs1424756308
|
|
NM_000152.5(GAA):c.1716C>G (p.His572Gln)
|
rs772962666
|
|
NM_000152.5(GAA):c.1716C>T (p.His572=)
|
rs772962666
|
|
NM_000152.5(GAA):c.1719C>A (p.Asn573Lys)
|
rs1175728529
|
|
NM_000152.5(GAA):c.1719C>T (p.Asn573=)
|
rs1175728529
|
|
NM_000152.5(GAA):c.1721T>C (p.Leu574Pro)
|
|
|
NM_000152.5(GAA):c.1722C>T (p.Leu574=)
|
rs561357893
|
|
NM_000152.5(GAA):c.1725C>A (p.Tyr575Ter)
|
rs112517802
|
|
NM_000152.5(GAA):c.1727G>A (p.Gly576Asp)
|
rs1555601255
|
|
NM_000152.5(GAA):c.1728C>G (p.Gly576=)
|
rs2143883499
|
|
NM_000152.5(GAA):c.1728C>T (p.Gly576=)
|
|
|
NM_000152.5(GAA):c.1731G>A (p.Leu577=)
|
|
|
NM_000152.5(GAA):c.1731G>T (p.Leu577=)
|
|
|
NM_000152.5(GAA):c.1734C>T (p.Thr578=)
|
rs149384771
|
|
NM_000152.5(GAA):c.1739C>T (p.Ala580Val)
|
rs909561836
|
|
NM_000152.5(GAA):c.1741A>G (p.Ile581Val)
|
rs559258217
|
|
NM_000152.5(GAA):c.1743C>G (p.Ile581Met)
|
rs527970795
|
|
NM_000152.5(GAA):c.1743C>T (p.Ile581=)
|
rs527970795
|
|
NM_000152.5(GAA):c.1744G>A (p.Ala582Thr)
|
rs369098202
|
|
NM_000152.5(GAA):c.1744G>C (p.Ala582Pro)
|
|
|
NM_000152.5(GAA):c.1746C>T (p.Ala582=)
|
|
|
NM_000152.5(GAA):c.1748C>T (p.Ser583Phe)
|
rs2143883845
|
|
NM_000152.5(GAA):c.1750C>A (p.His584Asn)
|
rs780475756
|
|
NM_000152.5(GAA):c.1752C>T (p.His584=)
|
|
|
NM_000152.5(GAA):c.1753A>T (p.Arg585Trp)
|
rs1555601273
|
|
NM_000152.5(GAA):c.1754+12G>T
|
|
|
NM_000152.5(GAA):c.1754+15C>T
|
|
|
NM_000152.5(GAA):c.1754+18C>T
|
|
|
NM_000152.5(GAA):c.1754+1_1754+7del
|
rs2039250790
|
|
NM_000152.5(GAA):c.1754+2T>A
|
|
|
NM_000152.5(GAA):c.1754+2T>C
|
|
|
NM_000152.5(GAA):c.1754+6G>C
|
rs1282791373
|
|
NM_000152.5(GAA):c.1754+9C>G
|
rs1319204794
|
|
NM_000152.5(GAA):c.1755-12C>A
|
|
|
NM_000152.5(GAA):c.1755-16del
|
|
|
NM_000152.5(GAA):c.1755-17G>A
|
|
|
NM_000152.5(GAA):c.1755-19G>A
|
|
|
NM_000152.5(GAA):c.1755-1G>A
|
rs2039261208
|
|
NM_000152.5(GAA):c.1755-20G>A
|
|
|
NM_000152.5(GAA):c.1755-5C>T
|
|
|
NM_000152.5(GAA):c.1755-8C>G
|
|
|
NM_000152.5(GAA):c.1755-9C>T
|
|
|
NM_000152.5(GAA):c.1758G>T (p.Ala586=)
|
rs79795428
|
|
NM_000152.5(GAA):c.1761_1765delinsT (p.Val588fs)
|
rs2039261436
|
|
NM_000152.5(GAA):c.1762G>A (p.Val588Met)
|
rs370138790
|
|
NM_000152.5(GAA):c.1764G>A (p.Val588=)
|
rs2143887715
|
|
NM_000152.5(GAA):c.1776G>A (p.Gly592=)
|
rs1317655623
|
|
NM_000152.5(GAA):c.1776G>C (p.Gly592=)
|
rs1317655623
|
|
NM_000152.5(GAA):c.1780C>T (p.Arg594Cys)
|
rs1428112902
|
|
NM_000152.5(GAA):c.1781G>A (p.Arg594His)
|
rs775450536
|
|
NM_000152.5(GAA):c.1781G>C (p.Arg594Pro)
|
rs775450536
|
|
NM_000152.5(GAA):c.1782C>A (p.Arg594=)
|
|
|
NM_000152.5(GAA):c.1782C>T (p.Arg594=)
|
|
|
NM_000152.5(GAA):c.1784C>T (p.Pro595Leu)
|
rs763772240
|
|
NM_000152.5(GAA):c.1791G>C (p.Val597=)
|
rs2039262436
|
|
NM_000152.5(GAA):c.1794C>G (p.Ile598Met)
|
rs2039262568
|
|
NM_000152.5(GAA):c.1797C>T (p.Ser599=)
|
rs761377657
|
|
NM_000152.5(GAA):c.1798C>G (p.Arg600Gly)
|
rs764670084
|
|
NM_000152.5(GAA):c.1798del (p.Arg600fs)
|
|
|
NM_000152.5(GAA):c.1799G>T (p.Arg600Leu)
|
|
|
NM_000152.5(GAA):c.17C>A (p.Pro6Gln)
|
rs771409180
|
|
NM_000152.5(GAA):c.1800C>T (p.Arg600=)
|
rs1598584611
|
|
NM_000152.5(GAA):c.1802C>A (p.Ser601Ter)
|
rs374470794
|
|
NM_000152.5(GAA):c.1802C>G (p.Ser601Trp)
|
rs374470794
|
|
NM_000152.5(GAA):c.1803G>T (p.Ser601=)
|
rs368993048
|
|
NM_000152.5(GAA):c.1804A>G (p.Thr602Ala)
|
rs781484283
|
|
NM_000152.5(GAA):c.1805C>T (p.Thr602Ile)
|
|
|
NM_000152.5(GAA):c.1806C>A (p.Thr602=)
|
rs1598584645
|
|
NM_000152.5(GAA):c.1809del (p.Phe603fs)
|
rs2143888280
|
|
NM_000152.5(GAA):c.180C>G (p.Ala60=)
|
rs2039031609
|
|
NM_000152.5(GAA):c.1814del (p.Gly605fs)
|
|
|
NM_000152.5(GAA):c.1817A>C (p.His606Pro)
|
rs1311698018
|
|
NM_000152.5(GAA):c.1819G>T (p.Gly607Cys)
|
|
|
NM_000152.5(GAA):c.1819_1836del (p.Gly607_His612del)
|
|
|
NM_000152.5(GAA):c.1819_1836dup (p.Gly607_His612dup)
|
rs1555601409
|
|
NM_000152.5(GAA):c.1822C>G (p.Arg608Gly)
|
|
|
NM_000152.5(GAA):c.1823G>T (p.Arg608Leu)
|
rs377126280
|
|
NM_000152.5(GAA):c.1824_1828dup (p.Ala610fs)
|
rs1057516826
|
|
NM_000152.5(GAA):c.1825T>C (p.Tyr609His)
|
|
|
NM_000152.5(GAA):c.1826A>T (p.Tyr609Phe)
|
rs2039264297
|
|
NM_000152.5(GAA):c.1827C>A (p.Tyr609Ter)
|
|
|
NM_000152.5(GAA):c.1827C>G (p.Tyr609Ter)
|
|
|
NM_000152.5(GAA):c.1830C>A (p.Ala610=)
|
|
|
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp)
|
rs1057517105
|
|
NM_000152.5(GAA):c.1833C>T (p.Gly611=)
|
|
|
NM_000152.5(GAA):c.1834C>A (p.His612Asn)
|
rs2039264895
|
|
NM_000152.5(GAA):c.1836C>G (p.His612Gln)
|
rs768397968
|
|
NM_000152.5(GAA):c.1837T>C (p.Trp613Arg)
|
|
|
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys)
|
rs369531647
|
|
NM_000152.5(GAA):c.1841C>T (p.Thr614Met)
|
rs369531647
|
|
NM_000152.5(GAA):c.1842G>C (p.Thr614=)
|
rs373955374
|
|
NM_000152.5(GAA):c.1844G>A (p.Gly615Glu)
|
rs1243515778
|
|
NM_000152.5(GAA):c.1844G>T (p.Gly615Val)
|
rs1243515778
|
|
NM_000152.5(GAA):c.1845G>A (p.Gly615=)
|
|
|
NM_000152.5(GAA):c.1846G>A (p.Asp616Asn)
|
rs796161389
|
|
NM_000152.5(GAA):c.1846G>T (p.Asp616Tyr)
|
|
|
NM_000152.5(GAA):c.1846del (p.Asp616fs)
|
rs1249187013
|
|
NM_000152.5(GAA):c.1846dup (p.Asp616fs)
|
rs1249187013
|
|
NM_000152.5(GAA):c.1847dup (p.Asp616fs)
|
rs1475559733
|
|
NM_000152.5(GAA):c.1848C>A (p.Asp616Glu)
|
|
|
NM_000152.5(GAA):c.1848dup (p.Val617fs)
|
|
|
NM_000152.5(GAA):c.1851G>A (p.Val617=)
|
rs886042906
|
|
NM_000152.5(GAA):c.1853G>A (p.Trp618Ter)
|
|
|
NM_000152.5(GAA):c.1855A>C (p.Ser619Arg)
|
|
|
NM_000152.5(GAA):c.1855A>G (p.Ser619Gly)
|
|
|
NM_000152.5(GAA):c.1857C>G (p.Ser619Arg)
|
rs914396317
|
|
NM_000152.5(GAA):c.1861T>C (p.Trp621Arg)
|
rs1327361418
|
|
NM_000152.5(GAA):c.1867C>G (p.Gln623Glu)
|
rs2143889579
|
|
NM_000152.5(GAA):c.1869G>T (p.Gln623His)
|
|
|
NM_000152.5(GAA):c.1870C>T (p.Leu624Phe)
|
rs764377962
|
|
NM_000152.5(GAA):c.1873G>A (p.Ala625Thr)
|
|
|
NM_000152.5(GAA):c.1873G>T (p.Ala625Ser)
|
rs757445420
|
|
NM_000152.5(GAA):c.1874_1882del (p.Ala625_Ser627del)
|
|
|
NM_000152.5(GAA):c.1876T>C (p.Ser626Pro)
|
rs1235035841
|
|
NM_000152.5(GAA):c.1878C>T (p.Ser626=)
|
rs2143889719
|
|
NM_000152.5(GAA):c.1880C>G (p.Ser627Cys)
|
|
|
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe)
|
rs1024137874
|
|
NM_000152.5(GAA):c.1882G>A (p.Val628Met)
|
rs745911962
|
|
NM_000152.5(GAA):c.1882G>C (p.Val628Leu)
|
|
|
NM_000152.5(GAA):c.1882G>T (p.Val628Leu)
|
rs745911962
|
|
NM_000152.5(GAA):c.1885C>T (p.Pro629Ser)
|
|
|
NM_000152.5(GAA):c.1888+10T>C
|
|
|
NM_000152.5(GAA):c.1888+12C>A
|
|
|
NM_000152.5(GAA):c.1888+15G>A
|
|
|
NM_000152.5(GAA):c.1888+18G>A
|
rs1452309871
|
|
NM_000152.5(GAA):c.1888+18G>C
|
|
|
NM_000152.5(GAA):c.1888+1G>A
|
rs776325453
|
|
NM_000152.5(GAA):c.1888+20G>C
|
|
|
NM_000152.5(GAA):c.1888+49_1888+72del
|
rs1555601511
|
|
NM_000152.5(GAA):c.1888+51_1888+74del
|
rs1555601512
|
|
NM_000152.5(GAA):c.1888+5G>C
|
|
|
NM_000152.5(GAA):c.1888+6_1888+14del
|
rs2039268703
|
|
NM_000152.5(GAA):c.1889-12_1889-11del
|
rs777483558
|
|
NM_000152.5(GAA):c.1889-13T>C
|
|
|
NM_000152.5(GAA):c.1889-15A>T
|
|
|
NM_000152.5(GAA):c.1889-18C>G
|
|
|
NM_000152.5(GAA):c.1889-20G>A
|
|
|
NM_000152.5(GAA):c.1889-4C>T
|
|
|
NM_000152.5(GAA):c.1889-5C>T
|
rs794727115
|
|
NM_000152.5(GAA):c.1889-7C>T
|
|
|
NM_000152.5(GAA):c.1893C>T (p.Ile631=)
|
rs1598585395
|
|
NM_000152.5(GAA):c.1895T>C (p.Leu632Pro)
|
|
|
NM_000152.5(GAA):c.1895T>G (p.Leu632Arg)
|
rs1598585402
|
|
NM_000152.5(GAA):c.1896G>T (p.Leu632=)
|
|
|
NM_000152.5(GAA):c.1898A>C (p.Gln633Pro)
|
rs2039274878
|
|
NM_000152.5(GAA):c.189A>C (p.Pro63=)
|
|
|
NM_000152.5(GAA):c.18G>A (p.Pro6=)
|
rs774703637
|
|
NM_000152.5(GAA):c.1902T>C (p.Phe634=)
|
|
|
NM_000152.5(GAA):c.1903A>G (p.Asn635Asp)
|
rs2143891559
|
|
NM_000152.5(GAA):c.1905C>A (p.Asn635Lys)
|
rs1414146587
|
|
NM_000152.5(GAA):c.1905C>G (p.Asn635Lys)
|
|
|
NM_000152.5(GAA):c.1905C>T (p.Asn635=)
|
rs1414146587
|
|
NM_000152.5(GAA):c.1906C>T (p.Leu636=)
|
rs1296740179
|
|
NM_000152.5(GAA):c.1908G>C (p.Leu636=)
|
|
|
NM_000152.5(GAA):c.1910_1918del (p.Leu637_Val639del)
|
rs2039275157
|
|
NM_000152.5(GAA):c.1911G>A (p.Leu637=)
|
|
|
NM_000152.5(GAA):c.1913G>A (p.Gly638Glu)
|
|
|
NM_000152.5(GAA):c.1913G>T (p.Gly638Val)
|
rs1294428728
|
|
NM_000152.5(GAA):c.1914G>A (p.Gly638=)
|
rs1305357140
|
|
NM_000152.5(GAA):c.1919C>T (p.Pro640Leu)
|
|
|
NM_000152.5(GAA):c.1924G>T (p.Val642Phe)
|
|
|
NM_000152.5(GAA):c.1926C>A (p.Val642=)
|
rs1346499760
|
|
NM_000152.5(GAA):c.1926C>G (p.Val642=)
|
rs1346499760
|
|
NM_000152.5(GAA):c.1927G>T (p.Gly643Trp)
|
rs28937909
|
|
NM_000152.5(GAA):c.1928G>C (p.Gly643Ala)
|
|
|
NM_000152.5(GAA):c.1930_1936dup (p.Val646fs)
|
rs748829376
|
|
NM_000152.5(GAA):c.1930del (p.Ala644fs)
|
|
|
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn)
|
rs368438393
|
|
NM_000152.5(GAA):c.1933G>C (p.Asp645His)
|
rs368438393
|
|
NM_000152.5(GAA):c.1933G>T (p.Asp645Tyr)
|
rs368438393
|
|
NM_000152.5(GAA):c.1935C>T (p.Asp645=)
|
rs28940868
|
|
NM_000152.5(GAA):c.1937del (p.Val646fs)
|
|
|
NM_000152.5(GAA):c.1940G>A (p.Cys647Tyr)
|
|
|
NM_000152.5(GAA):c.1940G>T (p.Cys647Phe)
|
rs1265892085
|
|
NM_000152.5(GAA):c.1941C>A (p.Cys647Ter)
|
rs776948121
|
|
NM_000152.5(GAA):c.1941C>T (p.Cys647=)
|
rs776948121
|
|
NM_000152.5(GAA):c.1942G>T (p.Gly648Cys)
|
|
|
NM_000152.5(GAA):c.1943G>T (p.Gly648Val)
|
rs1448515860
|
|
NM_000152.5(GAA):c.1947C>A (p.Phe649Leu)
|
rs770248553
|
|
NM_000152.5(GAA):c.1947C>T (p.Phe649=)
|
rs770248553
|
|
NM_000152.5(GAA):c.1948C>A (p.Leu650Met)
|
rs1359573192
|
|
NM_000152.5(GAA):c.1948C>T (p.Leu650=)
|
|
|
NM_000152.5(GAA):c.194C>A (p.Pro65His)
|
rs1482530928
|
|
NM_000152.5(GAA):c.194C>T (p.Pro65Leu)
|
|
|
NM_000152.5(GAA):c.1950G>C (p.Leu650=)
|
|
|
NM_000152.5(GAA):c.1950_1952delinsT (p.Gly651fs)
|
|
|
NM_000152.5(GAA):c.1951_1952delinsT (p.Gly651fs)
|
rs1567835781
|
|
NM_000152.5(GAA):c.1952G>A (p.Gly651Asp)
|
rs939350425
|
|
NM_000152.5(GAA):c.1952del (p.Gly651fs)
|
rs1567835775
|
|
NM_000152.5(GAA):c.1953C>T (p.Gly651=)
|
|
|
NM_000152.5(GAA):c.1956C>T (p.Asn652=)
|
|
|
NM_000152.5(GAA):c.1961C>A (p.Ser654Ter)
|
rs1057518106
|
|
NM_000152.5(GAA):c.1962A>G (p.Ser654=)
|
rs2143892394
|
|
NM_000152.5(GAA):c.1964A>G (p.Glu655Gly)
|
rs1269689890
|
|
NM_000152.5(GAA):c.1966del (p.Glu656fs)
|
|
|
NM_000152.5(GAA):c.1968G>C (p.Glu656Asp)
|
|
|
NM_000152.5(GAA):c.1971G>A (p.Leu657=)
|
|
|
NM_000152.5(GAA):c.1972T>G (p.Cys658Gly)
|
rs2039278476
|
|
NM_000152.5(GAA):c.1975G>C (p.Val659Leu)
|
rs2143892513
|
|
NM_000152.5(GAA):c.1975_2000dup (p.Phe667fs)
|
|
|
NM_000152.5(GAA):c.1976_1977del (p.Val659fs)
|
rs2143892473
|
|
NM_000152.5(GAA):c.1978C>G (p.Arg660Gly)
|
|
|
NM_000152.5(GAA):c.1978C>T (p.Arg660Cys)
|
rs759518659
|
|
NM_000152.5(GAA):c.1985C>T (p.Thr662Ile)
|
rs2039278795
|
|
NM_000152.5(GAA):c.1986C>T (p.Thr662=)
|
rs2039278843
|
|
NM_000152.5(GAA):c.1987C>T (p.Gln663Ter)
|
rs2143892654
|
|
NM_000152.5(GAA):c.1987del (p.Gln663fs)
|
rs2143892615
|
|
NM_000152.5(GAA):c.1989G>A (p.Gln663=)
|
rs1189531783
|
|
NM_000152.5(GAA):c.198G>A (p.Arg66=)
|
rs2143825886
|
|
NM_000152.5(GAA):c.1996G>A (p.Ala666Thr)
|
rs916566117
|
|
NM_000152.5(GAA):c.1996dup (p.Ala666fs)
|
|
|
NM_000152.5(GAA):c.1999T>C (p.Phe667Leu)
|
rs2039279293
|
|
NM_000152.5(GAA):c.199del (p.Asp67fs)
|
rs2143825870
|
|
NM_000152.5(GAA):c.1A>G (p.Met1Val)
|
rs786204467
|
|
NM_000152.5(GAA):c.1A>T (p.Met1Leu)
|
rs786204467
|
|
NM_000152.5(GAA):c.2001C>T (p.Phe667=)
|
|
|
NM_000152.5(GAA):c.2003A>G (p.Tyr668Cys)
|
rs1555601633
|
|
NM_000152.5(GAA):c.2003_2013dup (p.Arg672fs)
|
|
|
NM_000152.5(GAA):c.2004C>A (p.Tyr668Ter)
|
|
|
NM_000152.5(GAA):c.2004C>T (p.Tyr668=)
|
|
|
NM_000152.5(GAA):c.2005C>G (p.Pro669Ala)
|
|
|
NM_000152.5(GAA):c.2007C>T (p.Pro669=)
|
|
|
NM_000152.5(GAA):c.2014C>G (p.Arg672Gly)
|
|
|
NM_000152.5(GAA):c.2015G>T (p.Arg672Leu)
|
|
|
NM_000152.5(GAA):c.2016G>A (p.Arg672=)
|
|
|
NM_000152.5(GAA):c.2018A>C (p.Asn673Thr)
|
rs1598585837
|
|
NM_000152.5(GAA):c.2019C>T (p.Asn673=)
|
|
|
NM_000152.5(GAA):c.2021ACA[1] (p.Asn675del)
|
rs786204621
|
|
NM_000152.5(GAA):c.2022C>T (p.His674=)
|
|
|
NM_000152.5(GAA):c.2028C>T (p.Ser676=)
|
rs1209690340
|
|
NM_000152.5(GAA):c.2029C>T (p.Leu677=)
|
rs1272817506
|
|
NM_000152.5(GAA):c.2030T>A (p.Leu677Gln)
|
rs886053546
|
|
NM_000152.5(GAA):c.2035A>G (p.Ser679Gly)
|
rs1567835990
|
|
NM_000152.5(GAA):c.2040+11_2040+18dup
|
rs745338070
|
|
NM_000152.5(GAA):c.2040+13T>C
|
|
|
NM_000152.5(GAA):c.2040+14G>A
|
|
|
NM_000152.5(GAA):c.2040+15G>A
|
|
|
NM_000152.5(GAA):c.2040+18G>A
|
|
|
NM_000152.5(GAA):c.2040+18G>T
|
|
|
NM_000152.5(GAA):c.2040+19_2040+20inv
|
|
|
NM_000152.5(GAA):c.2040+1G>C
|
rs1057516928
|
|
NM_000152.5(GAA):c.2040+1del
|
rs1555601662
|
|
NM_000152.5(GAA):c.2040+2T>G
|
|
|
NM_000152.5(GAA):c.2040+4G>C
|
rs1598585909
|
|
NM_000152.5(GAA):c.2040+8G>C
|
rs779647712
|
|
NM_000152.5(GAA):c.2040+8G>T
|
rs779647712
|
|
NM_000152.5(GAA):c.2040+9G>A
|
|
|
NM_000152.5(GAA):c.2040+9G>C
|
|
|
NM_000152.5(GAA):c.2040G>A (p.Leu680=)
|
rs2039280842
|
|
NM_000152.5(GAA):c.2041-14del
|
|
|
NM_000152.5(GAA):c.2041-14dup
|
|
|
NM_000152.5(GAA):c.2041-15C>G
|
|
|
NM_000152.5(GAA):c.2041-17C>A
|
rs746028622
|
|
NM_000152.5(GAA):c.2041-1G>A
|
rs760731229
|
|
NM_000152.5(GAA):c.2041-20T>C
|
|
|
NM_000152.5(GAA):c.2041-4G>A
|
rs775757700
|
|
NM_000152.5(GAA):c.2041-9G>A
|
rs912717099
|
|
NM_000152.5(GAA):c.2041-9G>T
|
|
|
NM_000152.5(GAA):c.2041C>T (p.Pro681Ser)
|
rs2039286160
|
|
NM_000152.5(GAA):c.2043C>A (p.Pro681=)
|
rs764174168
|
|
NM_000152.5(GAA):c.2043C>G (p.Pro681=)
|
|
|
NM_000152.5(GAA):c.2043C>T (p.Pro681=)
|
rs764174168
|
|
NM_000152.5(GAA):c.2045A>G (p.Gln682Arg)
|
rs1484576607
|
|
NM_000152.5(GAA):c.2049G>A (p.Glu683=)
|
|
|
NM_000152.5(GAA):c.204C>T (p.Ala68=)
|
rs2143825931
|
|
NM_000152.5(GAA):c.2052G>T (p.Pro684=)
|
rs546463058
|
|
NM_000152.5(GAA):c.2053_2070del (p.Tyr685_Pro690del)
|
rs1555601721
|
|
NM_000152.5(GAA):c.2055C>T (p.Tyr685=)
|
rs750214208
|
|
NM_000152.5(GAA):c.2057_2058delinsAA (p.Ser686Lys)
|
rs1598586309
|
|
NM_000152.5(GAA):c.205C>G (p.Gln69Glu)
|
rs370174315
|
|
NM_000152.5(GAA):c.2061del (p.Phe687fs)
|
rs1064796706
|
|
NM_000152.5(GAA):c.2064C>A (p.Ser688Arg)
|
|
|
NM_000152.5(GAA):c.2064C>T (p.Ser688=)
|
rs140996643
|
|
NM_000152.5(GAA):c.2066_2069del (p.Glu689fs)
|
|
|
NM_000152.5(GAA):c.2066_2070dup (p.Ala691fs)
|
rs398123171
|
|
NM_000152.5(GAA):c.2070G>C (p.Pro690=)
|
|
|
NM_000152.5(GAA):c.2074C>T (p.Gln692Ter)
|
rs2039287628
|
|
NM_000152.5(GAA):c.2077C>A (p.Gln693Lys)
|
rs2039287681
|
|
NM_000152.5(GAA):c.2078dup (p.Ala694fs)
|
rs730880372
|
|
NM_000152.5(GAA):c.207G>A (p.Gln69=)
|
rs2039032628
|
|
NM_000152.5(GAA):c.2082C>T (p.Ala694=)
|
|
|
NM_000152.5(GAA):c.2082del (p.Ala694_Met695insTer)
|
rs2039287852
|
|
NM_000152.5(GAA):c.2084T>C (p.Met695Thr)
|
rs2143895805
|
|
NM_000152.5(GAA):c.2088G>A (p.Arg696=)
|
rs2143895840
|
|
NM_000152.5(GAA):c.2088del (p.Lys697fs)
|
|
|
NM_000152.5(GAA):c.2091G>A (p.Lys697=)
|
rs2143895855
|
|
NM_000152.5(GAA):c.2092_2099del (p.Ala698fs)
|
|
|
NM_000152.5(GAA):c.2093C>T (p.Ala698Val)
|
rs1001458871
|
|
NM_000152.5(GAA):c.2095dup (p.Leu699fs)
|
rs2143895928
|
|
NM_000152.5(GAA):c.2096T>C (p.Leu699Pro)
|
|
|
NM_000152.5(GAA):c.2099C>T (p.Thr700Ile)
|
rs2039288481
|
|
NM_000152.5(GAA):c.209C>A (p.Ala70Glu)
|
rs775376321
|
|
NM_000152.5(GAA):c.2100C>A (p.Thr700=)
|
|
|
NM_000152.5(GAA):c.2100C>T (p.Thr700=)
|
rs199571088
|
|
NM_000152.5(GAA):c.2101C>G (p.Leu701Val)
|
|
|
NM_000152.5(GAA):c.2105G>C (p.Arg702Pro)
|
rs398123172
|
|
NM_000152.5(GAA):c.2105G>T (p.Arg702Leu)
|
rs398123172
|
|
NM_000152.5(GAA):c.2108A>G (p.Tyr703Cys)
|
|
|
NM_000152.5(GAA):c.2109C>A (p.Tyr703Ter)
|
rs150728610
|
|
NM_000152.5(GAA):c.2109C>G (p.Tyr703Ter)
|
|
|
NM_000152.5(GAA):c.2110G>A (p.Ala704Thr)
|
rs375681364
|
|
NM_000152.5(GAA):c.2110G>C (p.Ala704Pro)
|
rs375681364
|
|
NM_000152.5(GAA):c.2110G>T (p.Ala704Ser)
|
rs375681364
|
|
NM_000152.5(GAA):c.2112A>C (p.Ala704=)
|
rs1449566083
|
|
NM_000152.5(GAA):c.2112A>G (p.Ala704=)
|
rs1449566083
|
|
NM_000152.5(GAA):c.2115C>G (p.Leu705=)
|
|
|
NM_000152.5(GAA):c.2115C>T (p.Leu705=)
|
rs372881095
|
|
NM_000152.5(GAA):c.2118C>G (p.Leu706=)
|
rs1479318289
|
|
NM_000152.5(GAA):c.2120C>T (p.Pro707Leu)
|
rs139009731
|
|
NM_000152.5(GAA):c.2121C>T (p.Pro707=)
|
|
|
NM_000152.5(GAA):c.2122C>A (p.His708Asn)
|
rs149916476
|
|
NM_000152.5(GAA):c.2122C>G (p.His708Asp)
|
rs149916476
|
|
NM_000152.5(GAA):c.2122del (p.His708fs)
|
|
|
NM_000152.5(GAA):c.2122dup (p.His708fs)
|
|
|
NM_000152.5(GAA):c.2124C>G (p.His708Gln)
|
rs751187069
|
|
NM_000152.5(GAA):c.2124C>T (p.His708=)
|
rs751187069
|
|
NM_000152.5(GAA):c.212A>G (p.His71Arg)
|
rs760205477
|
|
NM_000152.5(GAA):c.2130C>A (p.Tyr710Ter)
|
rs2039289942
|
|
NM_000152.5(GAA):c.2131A>C (p.Thr711Pro)
|
rs2143896492
|
|
NM_000152.5(GAA):c.2131A>G (p.Thr711Ala)
|
rs2143896492
|
|
NM_000152.5(GAA):c.2131A>T (p.Thr711Ser)
|
|
|
NM_000152.5(GAA):c.2132_2133delinsGG (p.Thr711Arg)
|
rs1555601773
|
|
NM_000152.5(GAA):c.2132_2133inv (p.Thr711Met)
|
|
|
NM_000152.5(GAA):c.2134C>T (p.Leu712=)
|
rs752233229
|
|
NM_000152.5(GAA):c.2136_2137del (p.Phe713fs)
|
rs1555601780
|
|
NM_000152.5(GAA):c.213C>T (p.His71=)
|
|
|
NM_000152.5(GAA):c.2140C>T (p.His714Tyr)
|
rs1332887976
|
|
NM_000152.5(GAA):c.2140del (p.His714fs)
|
rs786204549
|
|
NM_000152.5(GAA):c.2143C>T (p.Gln715Ter)
|
rs1275298143
|
|
NM_000152.5(GAA):c.2148C>A (p.Ala716=)
|
rs750907936
|
|
NM_000152.5(GAA):c.2148C>G (p.Ala716=)
|
rs750907936
|
|
NM_000152.5(GAA):c.2152G>C (p.Val718Leu)
|
|
|
NM_000152.5(GAA):c.2154C>G (p.Val718=)
|
rs1800311
|
|
NM_000152.5(GAA):c.2155G>A (p.Ala719Thr)
|
rs143324027
|
|
NM_000152.5(GAA):c.2155G>T (p.Ala719Ser)
|
rs143324027
|
|
NM_000152.5(GAA):c.2156C>T (p.Ala719Val)
|
rs146762316
|
|
NM_000152.5(GAA):c.2157G>C (p.Ala719=)
|
|
|
NM_000152.5(GAA):c.2157G>T (p.Ala719=)
|
|
|
NM_000152.5(GAA):c.2161G>T (p.Glu721Ter)
|
rs140376273
|
|
NM_000152.5(GAA):c.2161del (p.Glu721fs)
|
rs1555601802
|
|
NM_000152.5(GAA):c.2161dup (p.Glu721fs)
|
rs1555601802
|
|
NM_000152.5(GAA):c.2163G>A (p.Glu721=)
|
rs2143896953
|
|
NM_000152.5(GAA):c.2166C>G (p.Thr722=)
|
|
|
NM_000152.5(GAA):c.2167G>A (p.Val723Met)
|
rs767247397
|
|
NM_000152.5(GAA):c.2167_2179delinsTGCGACGTGG (p.Val723_Leu727delinsCysAspValVal)
|
rs2039292050
|
|
NM_000152.5(GAA):c.2169G>A (p.Val723=)
|
|
|
NM_000152.5(GAA):c.2170G>A (p.Ala724Thr)
|
rs1393059819
|
|
NM_000152.5(GAA):c.2172C>T (p.Ala724=)
|
rs2039292373
|
|
NM_000152.5(GAA):c.2173del (p.Arg725fs)
|
rs2039292320
|
|
NM_000152.5(GAA):c.2174G>T (p.Arg725Leu)
|
|
|
NM_000152.5(GAA):c.2175G>T (p.Arg725=)
|
rs2143897169
|
|
NM_000152.5(GAA):c.2178C>A (p.Pro726=)
|
rs1226457670
|
|
NM_000152.5(GAA):c.2178C>G (p.Pro726=)
|
|
|
NM_000152.5(GAA):c.2178C>T (p.Pro726=)
|
rs1226457670
|
|
NM_000152.5(GAA):c.217G>T (p.Gly73Cys)
|
rs760644219
|
|
NM_000152.5(GAA):c.2185C>T (p.Leu729=)
|
|
|
NM_000152.5(GAA):c.2185del (p.Leu729fs)
|
rs1057516581
|
|
NM_000152.5(GAA):c.2188G>T (p.Glu730Ter)
|
rs1555601828
|
|
NM_000152.5(GAA):c.2189+10_2189+11del
|
|
|
NM_000152.5(GAA):c.2189+16del
|
|
|
NM_000152.5(GAA):c.2189+2T>A
|
|
|
NM_000152.5(GAA):c.2189+3G>C
|
rs2143897458
|
|
NM_000152.5(GAA):c.2189+5_2189+8del
|
rs2039293139
|
|
NM_000152.5(GAA):c.2189+9C>G
|
rs2039293292
|
|
NM_000152.5(GAA):c.2189+9C>T
|
rs2039293292
|
|
NM_000152.5(GAA):c.2190-10C>A
|
rs1567838707
|
|
NM_000152.5(GAA):c.2190-16C>T
|
|
|
NM_000152.5(GAA):c.2190-20T>C
|
rs1485579975
|
|
NM_000152.5(GAA):c.2190-20T>G
|
|
|
NM_000152.5(GAA):c.2190-7C>G
|
|
|
NM_000152.5(GAA):c.2190-9C>A
|
|
|
NM_000152.5(GAA):c.2193C>T (p.Phe731=)
|
|
|
NM_000152.5(GAA):c.2196C>A (p.Pro732=)
|
rs915890435
|
|
NM_000152.5(GAA):c.21C>T (p.Pro7=)
|
rs2143823837
|
|
NM_000152.5(GAA):c.2203T>A (p.Ser735Thr)
|
rs1377188867
|
|
NM_000152.5(GAA):c.2204C>G (p.Ser735Cys)
|
|
|
NM_000152.5(GAA):c.2204C>T (p.Ser735Phe)
|
|
|
NM_000152.5(GAA):c.2205T>C (p.Ser735=)
|
rs2143918429
|
|
NM_000152.5(GAA):c.2207G>A (p.Ser736Asn)
|
rs553430197
|
|
NM_000152.5(GAA):c.2210C>A (p.Thr737Asn)
|
rs1381005435
|
|
NM_000152.5(GAA):c.2210C>T (p.Thr737Ile)
|
|
|
NM_000152.5(GAA):c.2211C>G (p.Thr737=)
|
rs2143918476
|
|
NM_000152.5(GAA):c.2211C>T (p.Thr737=)
|
rs2143918476
|
|
NM_000152.5(GAA):c.2213G>A (p.Trp738Ter)
|
rs1057516327
|
|
NM_000152.5(GAA):c.2214G>A (p.Trp738Ter)
|
rs1057516328
|
|
NM_000152.5(GAA):c.2215A>G (p.Thr739Ala)
|
rs578245757
|
|
NM_000152.5(GAA):c.2215A>T (p.Thr739Ser)
|
rs578245757
|
|
NM_000152.5(GAA):c.2218G>A (p.Val740Met)
|
rs752122499
|
|
NM_000152.5(GAA):c.2219_2220del (p.Val740fs)
|
rs2039364779
|
|
NM_000152.5(GAA):c.2220G>A (p.Val740=)
|
|
|
NM_000152.5(GAA):c.2223C>G (p.Asp741Glu)
|
rs767773929
|
|
NM_000152.5(GAA):c.2223C>T (p.Asp741=)
|
rs767773929
|
|
NM_000152.5(GAA):c.2226C>T (p.His742=)
|
|
|
NM_000152.5(GAA):c.2227C>T (p.Gln743Ter)
|
rs1057516277
|
|
NM_000152.5(GAA):c.2228A>G (p.Gln743Arg)
|
rs1567838823
|
|
NM_000152.5(GAA):c.2229G>A (p.Gln743=)
|
rs2143918741
|
|
NM_000152.5(GAA):c.2230C>T (p.Leu744Phe)
|
rs1347832021
|
|
NM_000152.5(GAA):c.2232C>T (p.Leu744=)
|
|
|
NM_000152.5(GAA):c.2235G>A (p.Leu745=)
|
rs1429277920
|
|
NM_000152.5(GAA):c.2235G>C (p.Leu745=)
|
rs1429277920
|
|
NM_000152.5(GAA):c.2235G>T (p.Leu745=)
|
|
|
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg)
|
rs1479740763
|
|
NM_000152.5(GAA):c.2237G>A (p.Trp746Ter)
|
rs752921215
|
|
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser)
|
rs752921215
|
|
NM_000152.5(GAA):c.2237G>T (p.Trp746Leu)
|
rs752921215
|
|
NM_000152.5(GAA):c.2238G>A (p.Trp746Ter)
|
rs1800312
|
|
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)
|
rs1800312
|
|
NM_000152.5(GAA):c.2238G>T (p.Trp746Cys)
|
|
|
NM_000152.5(GAA):c.2239G>T (p.Gly747Trp)
|
rs778981088
|
|
NM_000152.5(GAA):c.223C>T (p.Pro75Ser)
|
rs755561471
|
|
NM_000152.5(GAA):c.2242G>A (p.Glu748Lys)
|
rs1057516363
|
|
NM_000152.5(GAA):c.2242G>T (p.Glu748Ter)
|
rs1057516363
|
|
NM_000152.5(GAA):c.2242del (p.Glu748fs)
|
rs777275355
|
|
NM_000152.5(GAA):c.2242dup (p.Glu748fs)
|
rs777275355
|
|
NM_000152.5(GAA):c.2244G>A (p.Glu748=)
|
|
|
NM_000152.5(GAA):c.2247C>A (p.Ala749=)
|
|
|
NM_000152.5(GAA):c.2248C>T (p.Leu750=)
|
rs2143919200
|
|
NM_000152.5(GAA):c.224C>G (p.Pro75Arg)
|
rs1555598675
|
|
NM_000152.5(GAA):c.2261dup (p.Val755fs)
|
rs1555602648
|
|
NM_000152.5(GAA):c.2266C>T (p.Leu756Phe)
|
|
|
NM_000152.5(GAA):c.2268C>T (p.Leu756=)
|
rs746873847
|
|
NM_000152.5(GAA):c.2269C>T (p.Gln757Ter)
|
rs200483245
|
|
NM_000152.5(GAA):c.2270A>G (p.Gln757Arg)
|
rs768165130
|
|
NM_000152.5(GAA):c.2280G>T (p.Lys760Asn)
|
rs2143919634
|
|
NM_000152.5(GAA):c.2281delinsAT (p.Ala761fs)
|
rs1057516924
|
|
NM_000152.5(GAA):c.2284G>T (p.Glu762Ter)
|
rs760063214
|
|
NM_000152.5(GAA):c.2289G>A (p.Val763=)
|
rs767871949
|
|
NM_000152.5(GAA):c.2289G>C (p.Val763=)
|
rs767871949
|
|
NM_000152.5(GAA):c.2294G>A (p.Gly765Asp)
|
rs1292367136
|
|
NM_000152.5(GAA):c.2294G>T (p.Gly765Val)
|
rs1292367136
|
|
NM_000152.5(GAA):c.2296T>C (p.Tyr766His)
|
|
|
NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser)
|
rs144016984
|
|
NM_000152.5(GAA):c.229G>T (p.Ala77Ser)
|
rs781365881
|
|
NM_000152.5(GAA):c.2300del (p.Phe767fs)
|
rs1555602692
|
|
NM_000152.5(GAA):c.2303C>G (p.Pro768Arg)
|
|
|
NM_000152.5(GAA):c.2303C>T (p.Pro768Leu)
|
|
|
NM_000152.5(GAA):c.2304C>G (p.Pro768=)
|
|
|
NM_000152.5(GAA):c.2306T>C (p.Leu769Ser)
|
rs2039369551
|
|
NM_000152.5(GAA):c.2307G>A (p.Leu769=)
|
rs372800172
|
|
NM_000152.5(GAA):c.2307G>C (p.Leu769Phe)
|
rs372800172
|
|
NM_000152.5(GAA):c.2313_2322del (p.Trp772fs)
|
rs2143920189
|
|
NM_000152.5(GAA):c.2314T>C (p.Trp772Arg)
|
rs1555602703
|
|
NM_000152.5(GAA):c.2314del (p.Trp772fs)
|
|
|
NM_000152.5(GAA):c.2316G>T (p.Trp772Cys)
|
rs1057524664
|
|
NM_000152.5(GAA):c.2319C>A (p.Tyr773Ter)
|
|
|
NM_000152.5(GAA):c.2320dup (p.Asp774fs)
|
|
|
NM_000152.5(GAA):c.2325G>A (p.Leu775=)
|
rs2143920372
|
|
NM_000152.5(GAA):c.2327A>G (p.Gln776Arg)
|
|
|
NM_000152.5(GAA):c.2330_2331+4dup
|
rs762245732
|
|
NM_000152.5(GAA):c.2331+12G>A
|
|
|
NM_000152.5(GAA):c.2331+12G>C
|
|
|
NM_000152.5(GAA):c.2331+12G>T
|
|
|
NM_000152.5(GAA):c.2331+14C>T
|
rs772727792
|
|
NM_000152.5(GAA):c.2331+17del
|
|
|
NM_000152.5(GAA):c.2331+19dup
|
|
|
NM_000152.5(GAA):c.2331+1G>A
|
|
|
NM_000152.5(GAA):c.2331+1G>C
|
|
|
NM_000152.5(GAA):c.2331+20G>T
|
|
|
NM_000152.5(GAA):c.2331+2_2331+3del
|
|
|
NM_000152.5(GAA):c.2331+48C>A
|
rs2143921034
|
|
NM_000152.5(GAA):c.2331+4A>C
|
rs2039371081
|
|
NM_000152.5(GAA):c.2331+4A>G
|
|
|
NM_000152.5(GAA):c.2331+6T>G
|
|
|
NM_000152.5(GAA):c.2331+7C>G
|
|
|
NM_000152.5(GAA):c.2332-12A>G
|
|
|
NM_000152.5(GAA):c.2332-16C>T
|
rs2039383167
|
|
NM_000152.5(GAA):c.2332-1G>A
|
|
|
NM_000152.5(GAA):c.2332-1G>C
|
rs1555602832
|
|
NM_000152.5(GAA):c.2332-2A>G
|
rs112098197
|
|
NM_000152.5(GAA):c.2332-5T>G
|
rs1276069832
|
|
NM_000152.5(GAA):c.2332-7C>A
|
|
|
NM_000152.5(GAA):c.2332-7C>T
|
|
|
NM_000152.5(GAA):c.2332-8C>T
|
rs2143924023
|
|
NM_000152.5(GAA):c.2332-9T>C
|
|
|
NM_000152.5(GAA):c.2337A>G (p.Pro779=)
|
rs1042838087
|
|
NM_000152.5(GAA):c.2338G>C (p.Val780Leu)
|
rs1126690
|
|
NM_000152.5(GAA):c.2341G>A (p.Glu781Lys)
|
|
|
NM_000152.5(GAA):c.2345C>T (p.Ala782Val)
|
rs994916972
|
|
NM_000152.5(GAA):c.2345_2346insA (p.Leu783fs)
|
|
|
NM_000152.5(GAA):c.2347C>T (p.Leu783Phe)
|
rs762310752
|
|
NM_000152.5(GAA):c.2349T>C (p.Leu783=)
|
|
|
NM_000152.5(GAA):c.2354G>T (p.Ser785Ile)
|
|
|
NM_000152.5(GAA):c.2355C>T (p.Ser785=)
|
rs2143924314
|
|
NM_000152.5(GAA):c.2358C>A (p.Leu786=)
|
|
|
NM_000152.5(GAA):c.2359C>A (p.Pro787Thr)
|
|
|
NM_000152.5(GAA):c.235C>T (p.Pro79Ser)
|
rs756342288
|
|
NM_000152.5(GAA):c.2361A>G (p.Pro787=)
|
|
|
NM_000152.5(GAA):c.2362C>A (p.Pro788Thr)
|
rs2039384789
|
|
NM_000152.5(GAA):c.2362C>T (p.Pro788Ser)
|
|
|
NM_000152.5(GAA):c.2363C>A (p.Pro788His)
|
|
|
NM_000152.5(GAA):c.2364C>T (p.Pro788=)
|
|
|
NM_000152.5(GAA):c.2366C>A (p.Pro789Gln)
|
rs773629231
|
|
NM_000152.5(GAA):c.2367A>G (p.Pro789=)
|
rs1012503581
|
|
NM_000152.5(GAA):c.2367dup (p.Pro790fs)
|
rs1555602860
|
|
NM_000152.5(GAA):c.2368C>T (p.Pro790Ser)
|
rs776111131
|
|
NM_000152.5(GAA):c.236_246del (p.Pro79fs)
|
rs1057517165
|
|
NM_000152.5(GAA):c.2370T>C (p.Pro790=)
|
|
|
NM_000152.5(GAA):c.237C>T (p.Pro79=)
|
|
|
NM_000152.5(GAA):c.2380C>T (p.Arg794Cys)
|
|
|
NM_000152.5(GAA):c.2380del (p.Arg794fs)
|
rs2143924649
|
|
NM_000152.5(GAA):c.2381G>C (p.Arg794Pro)
|
rs200505871
|
|
NM_000152.5(GAA):c.2383G>T (p.Glu795Ter)
|
rs886043882
|
|
NM_000152.5(GAA):c.2385G>A (p.Glu795=)
|
rs1333952509
|
|
NM_000152.5(GAA):c.2385del (p.Glu795fs)
|
rs2143924790
|
|
NM_000152.5(GAA):c.2388A>G (p.Pro796=)
|
|
|
NM_000152.5(GAA):c.2389G>A (p.Ala797Thr)
|
rs539031621
|
|
NM_000152.5(GAA):c.2391C>G (p.Ala797=)
|
|
|
NM_000152.5(GAA):c.2391C>T (p.Ala797=)
|
rs767494597
|
|
NM_000152.5(GAA):c.2395del (p.His799fs)
|
|
|
NM_000152.5(GAA):c.2399G>T (p.Ser800Ile)
|
|
|
NM_000152.5(GAA):c.2403G>A (p.Glu801=)
|
rs2143924963
|
|
NM_000152.5(GAA):c.2405G>A (p.Gly802Glu)
|
|
|
NM_000152.5(GAA):c.2408_2426del (p.Gln803fs)
|
rs763048948
|
|
NM_000152.5(GAA):c.2409G>A (p.Gln803=)
|
rs778506693
|
|
NM_000152.5(GAA):c.2410T>C (p.Trp804Arg)
|
rs2143925115
|
|
NM_000152.5(GAA):c.2411G>A (p.Trp804Ter)
|
rs2143925134
|
|
NM_000152.5(GAA):c.2415G>T (p.Val805=)
|
rs150536507
|
|
NM_000152.5(GAA):c.2416A>C (p.Thr806Pro)
|
|
|
NM_000152.5(GAA):c.2418G>T (p.Thr806=)
|
rs371528938
|
|
NM_000152.5(GAA):c.241C>T (p.Gln81Ter)
|
rs1555598687
|
|
NM_000152.5(GAA):c.2427C>T (p.Ala809=)
|
rs766325117
|
|
NM_000152.5(GAA):c.2428C>T (p.Pro810Ser)
|
rs774470696
|
|
NM_000152.5(GAA):c.242del (p.Gln81fs)
|
|
|
NM_000152.5(GAA):c.2430C>G (p.Pro810=)
|
rs554839058
|
|
NM_000152.5(GAA):c.2430C>T (p.Pro810=)
|
rs554839058
|
|
NM_000152.5(GAA):c.2431C>G (p.Leu811Val)
|
|
|
NM_000152.5(GAA):c.2431dup (p.Leu811fs)
|
rs2143925402
|
|
NM_000152.5(GAA):c.2432del (p.Leu811fs)
|
rs766560578
|
|
NM_000152.5(GAA):c.2434G>A (p.Asp812Asn)
|
rs1433117170
|
|
NM_000152.5(GAA):c.2439C>A (p.Thr813=)
|
|
|
NM_000152.5(GAA):c.2439C>T (p.Thr813=)
|
rs2143925559
|
|
NM_000152.5(GAA):c.2442C>T (p.Ile814=)
|
|
|
NM_000152.5(GAA):c.2444A>C (p.Asn815Thr)
|
rs1365945556
|
|
NM_000152.5(GAA):c.244T>C (p.Cys82Arg)
|
rs1252748852
|
|
NM_000152.5(GAA):c.2451C>T (p.His817=)
|
rs753382861
|
|
NM_000152.5(GAA):c.2452C>T (p.Leu818Phe)
|
|
|
NM_000152.5(GAA):c.2453T>C (p.Leu818Pro)
|
|
|
NM_000152.5(GAA):c.2456G>C (p.Arg819Pro)
|
rs374687883
|
|
NM_000152.5(GAA):c.2459_2461del (p.Ala820del)
|
rs1182634884
|
|
NM_000152.5(GAA):c.2463G>C (p.Gly821=)
|
|
|
NM_000152.5(GAA):c.2466C>T (p.Tyr822=)
|
rs2039389205
|
|
NM_000152.5(GAA):c.2467A>G (p.Ile823Val)
|
|
|
NM_000152.5(GAA):c.2467A>T (p.Ile823Phe)
|
rs758038288
|
|
NM_000152.5(GAA):c.2469C>T (p.Ile823=)
|
|
|
NM_000152.5(GAA):c.246C>A (p.Cys82Ter)
|
rs749584846
|
|
NM_000152.5(GAA):c.2470_2471del (p.Ile824fs)
|
rs2143926009
|
|
NM_000152.5(GAA):c.2472C>A (p.Ile824=)
|
|
|
NM_000152.5(GAA):c.2472C>T (p.Ile824=)
|
rs2039389492
|
|
NM_000152.5(GAA):c.2474C>T (p.Pro825Leu)
|
rs886042703
|
|
NM_000152.5(GAA):c.2475C>T (p.Pro825=)
|
|
|
NM_000152.5(GAA):c.2476del (p.Leu826fs)
|
|
|
NM_000152.5(GAA):c.2480A>G (p.Gln827Arg)
|
rs1555602967
|
|
NM_000152.5(GAA):c.2481+10C>A
|
|
|
NM_000152.5(GAA):c.2481+110_2646+39del
|
rs1598592604
|
|
NM_000152.5(GAA):c.2481+1G>A
|
|
|
NM_000152.5(GAA):c.2481+1G>T
|
|
|
NM_000152.5(GAA):c.2481+20A>G
|
|
|
NM_000152.5(GAA):c.2481+4C>G
|
|
|
NM_000152.5(GAA):c.2481+5C>G
|
rs1598592432
|
|
NM_000152.5(GAA):c.2481+6T>C
|
rs1479232207
|
|
NM_000152.5(GAA):c.2481+7G>A
|
rs770240317
|
|
NM_000152.5(GAA):c.2481+8G>T
|
|
|
NM_000152.5(GAA):c.2482-12T>C
|
|
|
NM_000152.5(GAA):c.2482-16G>A
|
|
|
NM_000152.5(GAA):c.2482-17T>C
|
|
|
NM_000152.5(GAA):c.2482-1G>T
|
|
|
NM_000152.5(GAA):c.2482-5T>C
|
rs1290870969
|
|
NM_000152.5(GAA):c.2482-8C>A
|
rs1407022252
|
|
NM_000152.5(GAA):c.2482-8C>G
|
rs1407022252
|
|
NM_000152.5(GAA):c.2482-8C>T
|
rs1407022252
|
|
NM_000152.5(GAA):c.2482-9C>A
|
|
|
NM_000152.5(GAA):c.2482-9C>T
|
rs753210535
|
|
NM_000152.5(GAA):c.2483_2646+1del
|
rs1555603048
|
|
NM_000152.5(GAA):c.2483del
|
|
|
NM_000152.5(GAA):c.2486C>G (p.Pro829Arg)
|
rs778187006
|
|
NM_000152.5(GAA):c.2488G>C (p.Gly830Arg)
|
rs1598593166
|
|
NM_000152.5(GAA):c.2489G>C (p.Gly830Ala)
|
|
|
NM_000152.5(GAA):c.2495C>T (p.Thr832Ile)
|
rs1555603057
|
|
NM_000152.5(GAA):c.2495_2496del (p.Thr832fs)
|
rs1057516704
|
|
NM_000152.5(GAA):c.2496A>C (p.Thr832=)
|
|
|
NM_000152.5(GAA):c.2496A>G (p.Thr832=)
|
rs2143929451
|
|
NM_000152.5(GAA):c.2498C>T (p.Thr833Ile)
|
|
|
NM_000152.5(GAA):c.24C>T (p.Cys8=)
|
|
|
NM_000152.5(GAA):c.2501_2502del (p.Thr834fs)
|
rs886043343
|
|
NM_000152.5(GAA):c.2502dup (p.Glu835fs)
|
|
|
NM_000152.5(GAA):c.2505G>C (p.Glu835Asp)
|
rs771259598
|
|
NM_000152.5(GAA):c.2511C>T (p.Arg837=)
|
|
|
NM_000152.5(GAA):c.2515C>A (p.Gln839Lys)
|
rs920085419
|
|
NM_000152.5(GAA):c.2517G>A (p.Gln839=)
|
|
|
NM_000152.5(GAA):c.2518C>G (p.Pro840Ala)
|
rs930247743
|
|
NM_000152.5(GAA):c.2520C>T (p.Pro840=)
|
rs1054395487
|
|
NM_000152.5(GAA):c.2522T>C (p.Met841Thr)
|
rs758016479
|
|
NM_000152.5(GAA):c.2523G>C (p.Met841Ile)
|
rs1555603087
|
|
NM_000152.5(GAA):c.2525C>T (p.Ala842Val)
|
rs2143929732
|
|
NM_000152.5(GAA):c.2526C>G (p.Ala842=)
|
rs886038259
|
|
NM_000152.5(GAA):c.2527C>G (p.Leu843Val)
|
rs2143929760
|
|
NM_000152.5(GAA):c.2528T>C (p.Leu843Pro)
|
rs775524898
|
|
NM_000152.5(GAA):c.2529G>A (p.Leu843=)
|
rs2039403061
|
|
NM_000152.5(GAA):c.2529G>C (p.Leu843=)
|
|
|
NM_000152.5(GAA):c.252C>A (p.Val84=)
|
rs775079960
|
|
NM_000152.5(GAA):c.252C>T (p.Val84=)
|
rs775079960
|
|
NM_000152.5(GAA):c.2539C>T (p.Leu847=)
|
|
|
NM_000152.5(GAA):c.2540T>G (p.Leu847Arg)
|
rs1555603096
|
|
NM_000152.5(GAA):c.2544C>G (p.Thr848=)
|
|
|
NM_000152.5(GAA):c.2544del (p.Lys849fs)
|
rs398123173
|
|
NM_000152.5(GAA):c.2545A>T (p.Lys849Ter)
|
rs2039403673
|
|
NM_000152.5(GAA):c.2547G>A (p.Lys849=)
|
|
|
NM_000152.5(GAA):c.2550T>G (p.Gly850=)
|
rs761608706
|
|
NM_000152.5(GAA):c.2552G>A (p.Gly851Glu)
|
rs764943318
|
|
NM_000152.5(GAA):c.2553G>C (p.Gly851=)
|
rs1042397
|
|
NM_000152.5(GAA):c.2554G>T (p.Glu852Ter)
|
|
|
NM_000152.5(GAA):c.2555A>G (p.Glu852Gly)
|
rs2039404008
|
|
NM_000152.5(GAA):c.2559C>G (p.Ala853=)
|
rs2143930088
|
|
NM_000152.5(GAA):c.255C>G (p.Pro85=)
|
rs1448106804
|
|
NM_000152.5(GAA):c.2563G>C (p.Gly855Arg)
|
|
|
NM_000152.5(GAA):c.2566G>A (p.Glu856Lys)
|
rs1039438307
|
|
NM_000152.5(GAA):c.2571G>A (p.Leu857=)
|
|
|
NM_000152.5(GAA):c.2577G>A (p.Trp859Ter)
|
|
|
NM_000152.5(GAA):c.2581G>C (p.Asp861His)
|
|
|
NM_000152.5(GAA):c.2583T>C (p.Asp861=)
|
|
|
NM_000152.5(GAA):c.2584G>A (p.Gly862Arg)
|
rs1555603113
|
|
NM_000152.5(GAA):c.258C>G (p.Pro86=)
|
|
|
NM_000152.5(GAA):c.258del (p.Asn87fs)
|
rs761317813
|
|
NM_000152.5(GAA):c.258dup (p.Asn87fs)
|
rs761317813
|
|
NM_000152.5(GAA):c.2593C>T (p.Leu865=)
|
rs2143930457
|
|
NM_000152.5(GAA):c.2595G>A (p.Leu865=)
|
rs2143930470
|
|
NM_000152.5(GAA):c.2597A>C (p.Glu866Ala)
|
rs951742543
|
|
NM_000152.5(GAA):c.2598A>G (p.Glu866=)
|
|
|
NM_000152.5(GAA):c.259A>C (p.Asn87His)
|
|
|
NM_000152.5(GAA):c.2604G>T (p.Leu868=)
|
rs772250523
|
|
NM_000152.5(GAA):c.2608C>A (p.Arg870=)
|
rs780321415
|
|
NM_000152.5(GAA):c.2616C>T (p.Ala872=)
|
|
|
NM_000152.5(GAA):c.2617dup (p.Tyr873fs)
|
rs1555603131
|
|
NM_000152.5(GAA):c.2619C>A (p.Tyr873Ter)
|
rs1555603132
|
|
NM_000152.5(GAA):c.2619C>G (p.Tyr873Ter)
|
|
|
NM_000152.5(GAA):c.261C>G (p.Asn87Lys)
|
rs1052555748
|
|
NM_000152.5(GAA):c.2623C>T (p.Gln875Ter)
|
rs2143930800
|
|
NM_000152.5(GAA):c.2625G>A (p.Gln875=)
|
rs2039406110
|
|
NM_000152.5(GAA):c.2637G>A (p.Leu879=)
|
rs2039406388
|
|
NM_000152.5(GAA):c.2643G>A (p.Arg881=)
|
rs1160268139
|
|
NM_000152.5(GAA):c.2644_2645insT (p.Asn882fs)
|
|
|
NM_000152.5(GAA):c.2645A>G (p.Asn882Ser)
|
|
|
NM_000152.5(GAA):c.2646+12G>A
|
|
|
NM_000152.5(GAA):c.2646+19C>T
|
|
|
NM_000152.5(GAA):c.2646+1G>A
|
rs2143931061
|
|
NM_000152.5(GAA):c.2646+2T>A
|
rs786204561
|
|
NM_000152.5(GAA):c.2646+2T>G
|
|
|
NM_000152.5(GAA):c.2646+3G>A
|
|
|
NM_000152.5(GAA):c.2646+4A>C
|
|
|
NM_000152.5(GAA):c.2646+4A>G
|
|
|
NM_000152.5(GAA):c.2646+7C>G
|
rs2143931099
|
|
NM_000152.5(GAA):c.2646+7C>T
|
|
|
NM_000152.5(GAA):c.2646+8C>T
|
|
|
NM_000152.5(GAA):c.2646+8del
|
rs2039406901
|
|
NM_000152.5(GAA):c.2646+9T>C
|
rs1231487778
|
|
NM_000152.5(GAA):c.2647-10C>T
|
rs2143933140
|
|
NM_000152.5(GAA):c.2647-11G>C
|
rs2039413131
|
|
NM_000152.5(GAA):c.2647-12T>C
|
|
|
NM_000152.5(GAA):c.2647-12dup
|
|
|
NM_000152.5(GAA):c.2647-14T>A
|
|
|
NM_000152.5(GAA):c.2647-15C>G
|
rs1567840763
|
|
NM_000152.5(GAA):c.2647-17C>G
|
|
|
NM_000152.5(GAA):c.2647-1_2648del
|
rs1555603216
|
|
NM_000152.5(GAA):c.2647-20T>G
|
rs1555603208
|
|
NM_000152.5(GAA):c.2647-23del
|
rs749000061
|
|
NM_000152.5(GAA):c.2647-25_2647-18del
|
|
|
NM_000152.5(GAA):c.2647-2A>G
|
|
|
NM_000152.5(GAA):c.2647-4C>T
|
|
|
NM_000152.5(GAA):c.2647-6G>A
|
rs201525743
|
|
NM_000152.5(GAA):c.2647-71G>C
|
rs4889821
|
|
NM_000152.5(GAA):c.2647-7G>C
|
|
|
NM_000152.5(GAA):c.2647-7G>T
|
|
|
NM_000152.5(GAA):c.2647-8C>G
|
rs139201641
|
|
NM_000152.5(GAA):c.264C>G (p.Ser88Arg)
|
|
|
NM_000152.5(GAA):c.2652G>C (p.Thr884=)
|
|
|
NM_000152.5(GAA):c.2652G>T (p.Thr884=)
|
|
|
NM_000152.5(GAA):c.2655C>A (p.Ile885=)
|
rs774840779
|
|
NM_000152.5(GAA):c.2655_2656del (p.Val886fs)
|
rs1555603219
|
|
NM_000152.5(GAA):c.2655_2656delinsT (p.Ile885_Val886insTer)
|
|
|
NM_000152.5(GAA):c.2658G>T (p.Val886=)
|
|
|
NM_000152.5(GAA):c.265C>A (p.Arg89Ser)
|
|
|
NM_000152.5(GAA):c.2665C>T (p.Leu889=)
|
rs750939444
|
|
NM_000152.5(GAA):c.266G>T (p.Arg89Leu)
|
|
|
NM_000152.5(GAA):c.2672G>C (p.Arg891Pro)
|
rs199524847
|
|
NM_000152.5(GAA):c.2672G>T (p.Arg891Leu)
|
rs199524847
|
|
NM_000152.5(GAA):c.2672del (p.Arg891fs)
|
|
|
NM_000152.5(GAA):c.2675_2676dup (p.Thr893Ter)
|
|
|
NM_000152.5(GAA):c.2676G>A (p.Val892=)
|
|
|
NM_000152.5(GAA):c.2678C>T (p.Thr893Ile)
|
|
|
NM_000152.5(GAA):c.267C>T (p.Arg89=)
|
rs2039036067
|
|
NM_000152.5(GAA):c.2684A>G (p.Glu895Gly)
|
|
|
NM_000152.5(GAA):c.268T>A (p.Phe90Ile)
|
rs755402236
|
|
NM_000152.5(GAA):c.2695C>T (p.Leu899=)
|
|
|
NM_000152.5(GAA):c.2696T>G (p.Leu899Arg)
|
|
|
NM_000152.5(GAA):c.2697G>T (p.Leu899=)
|
rs2143933626
|
|
NM_000152.5(GAA):c.26C>T (p.Ser9Phe)
|
rs1598568879
|
|
NM_000152.5(GAA):c.2701del (p.Leu901fs)
|
|
|
NM_000152.5(GAA):c.2702T>A (p.Leu901Gln)
|
|
|
NM_000152.5(GAA):c.2702dup (p.Gln902fs)
|
|
|
NM_000152.5(GAA):c.2703G>A (p.Leu901=)
|
rs2143933710
|
|
NM_000152.5(GAA):c.2704C>T (p.Gln902Ter)
|
rs1057516341
|
|
NM_000152.5(GAA):c.2704_2716dup (p.Val906fs)
|
rs1057516189
|
|
NM_000152.5(GAA):c.2705A>G (p.Gln902Arg)
|
|
|
NM_000152.5(GAA):c.2706G>A (p.Gln902=)
|
rs2039415234
|
|
NM_000152.5(GAA):c.2707_2709del (p.Lys903del)
|
rs121907939
|
|
NM_000152.5(GAA):c.2714C>G (p.Thr905Ser)
|
|
|
NM_000152.5(GAA):c.2718C>T (p.Val906=)
|
|
|
NM_000152.5(GAA):c.271G>T (p.Asp91Tyr)
|
rs1800299
|
|
NM_000152.5(GAA):c.2721G>A (p.Leu907=)
|
rs2143933909
|
|
NM_000152.5(GAA):c.2722G>A (p.Gly908Ser)
|
|
|
NM_000152.5(GAA):c.2722G>T (p.Gly908Cys)
|
rs2039415739
|
|
NM_000152.5(GAA):c.2723G>T (p.Gly908Val)
|
rs2143933949
|
|
NM_000152.5(GAA):c.2723del (p.Gly908fs)
|
|
|
NM_000152.5(GAA):c.2729C>T (p.Ala910Val)
|
|
|
NM_000152.5(GAA):c.2730C>A (p.Ala910=)
|
rs2143934007
|
|
NM_000152.5(GAA):c.2732C>T (p.Thr911Met)
|
rs1027032995
|
|
NM_000152.5(GAA):c.2733G>A (p.Thr911=)
|
|
|
NM_000152.5(GAA):c.2734del (p.Ala912fs)
|
|
|
NM_000152.5(GAA):c.2736G>T (p.Ala912=)
|
|
|
NM_000152.5(GAA):c.2739C>T (p.Pro913=)
|
rs370765733
|
|
NM_000152.5(GAA):c.2740C>T (p.Gln914Ter)
|
rs1555603264
|
|
NM_000152.5(GAA):c.2740dup (p.Gln914fs)
|
rs745427943
|
|
NM_000152.5(GAA):c.2741A>C (p.Gln914Pro)
|
|
|
NM_000152.5(GAA):c.2741delinsCAG (p.Gln914fs)
|
|
|
NM_000152.5(GAA):c.2743C>T (p.Gln915Ter)
|
|
|
NM_000152.5(GAA):c.2744A>C (p.Gln915Pro)
|
rs1555603272
|
|
NM_000152.5(GAA):c.2745G>C (p.Gln915His)
|
rs2143934282
|
|
NM_000152.5(GAA):c.2746G>T (p.Val916Phe)
|
rs1221948995
|
|
NM_000152.5(GAA):c.2751C>G (p.Leu917=)
|
|
|
NM_000152.5(GAA):c.2753C>T (p.Ser918Phe)
|
rs773667152
|
|
NM_000152.5(GAA):c.2754C>A (p.Ser918=)
|
rs1598594382
|
|
NM_000152.5(GAA):c.2757del (p.Asn919fs)
|
rs1555603283
|
|
NM_000152.5(GAA):c.2758G>T (p.Gly920Cys)
|
|
|
NM_000152.5(GAA):c.2759G>A (p.Gly920Asp)
|
|
|
NM_000152.5(GAA):c.2760T>C (p.Gly920=)
|
|
|
NM_000152.5(GAA):c.2761G>T (p.Val921Phe)
|
rs1555603286
|
|
NM_000152.5(GAA):c.2766T>C (p.Pro922=)
|
rs2143934535
|
|
NM_000152.5(GAA):c.2769C>A (p.Val923=)
|
rs1272166322
|
|
NM_000152.5(GAA):c.2769C>T (p.Val923=)
|
rs1272166322
|
|
NM_000152.5(GAA):c.276C>A (p.Cys92Ter)
|
rs1232001857
|
|
NM_000152.5(GAA):c.2772C>G (p.Ser924=)
|
|
|
NM_000152.5(GAA):c.2772C>T (p.Ser924=)
|
rs2039417635
|
|
NM_000152.5(GAA):c.2772del (p.Asn925fs)
|
|
|
NM_000152.5(GAA):c.2776T>C (p.Phe926Leu)
|
rs1555603301
|
|
NM_000152.5(GAA):c.2778C>T (p.Phe926=)
|
|
|
NM_000152.5(GAA):c.2782T>C (p.Tyr928His)
|
rs2143934702
|
|
NM_000152.5(GAA):c.2784C>T (p.Tyr928=)
|
|
|
NM_000152.5(GAA):c.2788C>A (p.Pro930Thr)
|
rs1598594483
|
|
NM_000152.5(GAA):c.2790C>T (p.Pro930=)
|
rs2039418269
|
|
NM_000152.5(GAA):c.2791G>A (p.Asp931Asn)
|
rs756199247
|
|
NM_000152.5(GAA):c.2793C>T (p.Asp931=)
|
rs1439341909
|
|
NM_000152.5(GAA):c.2796C>T (p.Thr932=)
|
rs2143934830
|
|
NM_000152.5(GAA):c.2798A>G (p.Lys933Arg)
|
|
|
NM_000152.5(GAA):c.2799+10C>G
|
rs1482012226
|
|
NM_000152.5(GAA):c.2799+10C>T
|
rs1482012226
|
|
NM_000152.5(GAA):c.2799+12C>T
|
|
|
NM_000152.5(GAA):c.2799+13A>C
|
|
|
NM_000152.5(GAA):c.2799+15A>C
|
|
|
NM_000152.5(GAA):c.2799+15A>G
|
|
|
NM_000152.5(GAA):c.2799+16G>A
|
|
|
NM_000152.5(GAA):c.2799+17T>C
|
|
|
NM_000152.5(GAA):c.2799+18G>A
|
rs779034370
|
|
NM_000152.5(GAA):c.2799+18G>T
|
|
|
NM_000152.5(GAA):c.2799+2C>A
|
rs1555603318
|
|
NM_000152.5(GAA):c.2799+2C>G
|
|
|
NM_000152.5(GAA):c.2799+2C>T
|
rs1555603318
|
|
NM_000152.5(GAA):c.2799+4A>T
|
|
|
NM_000152.5(GAA):c.2799+5G>A
|
|
|
NM_000152.5(GAA):c.2800-10T>C
|
rs2143938123
|
|
NM_000152.5(GAA):c.2800-11C>T
|
|
|
NM_000152.5(GAA):c.2800-13del
|
|
|
NM_000152.5(GAA):c.2800-15CT[3]
|
rs770227589
|
|
NM_000152.5(GAA):c.2800-16G>A
|
|
|
NM_000152.5(GAA):c.2800-1G>A
|
|
|
NM_000152.5(GAA):c.2800-20T>A
|
|
|
NM_000152.5(GAA):c.2800-6T>C
|
rs2143938183
|
|
NM_000152.5(GAA):c.2800-9C>G
|
rs886053547
|
|
NM_000152.5(GAA):c.2800-9C>T
|
|
|
NM_000152.5(GAA):c.2811C>G (p.Ile937Met)
|
rs2039429760
|
|
NM_000152.5(GAA):c.2811_2819del (p.Ile937_Ser940delinsMet)
|
rs1555603411
|
|
NM_000152.5(GAA):c.2812del (p.Cys938fs)
|
|
|
NM_000152.5(GAA):c.2815_2816del (p.Val939fs)
|
rs763359208
|
|
NM_000152.5(GAA):c.2817C>T (p.Val939=)
|
rs2143938445
|
|
NM_000152.5(GAA):c.2820G>C (p.Ser940=)
|
|
|
NM_000152.5(GAA):c.2821C>T (p.Leu941=)
|
|
|
NM_000152.5(GAA):c.2823G>A (p.Leu941=)
|
|
|
NM_000152.5(GAA):c.2824T>C (p.Leu942=)
|
rs780885711
|
|
NM_000152.5(GAA):c.2826G>A (p.Leu942=)
|
rs866970316
|
|
NM_000152.5(GAA):c.2829G>A (p.Met943Ile)
|
rs2039430526
|
|
NM_000152.5(GAA):c.282T>C (p.Pro94=)
|
|
|
NM_000152.5(GAA):c.282del (p.Asp95fs)
|
rs2143826963
|
|
NM_000152.5(GAA):c.2834_2835del (p.Glu945fs)
|
|
|
NM_000152.5(GAA):c.2850C>T (p.Ser950=)
|
|
|
NM_000152.5(GAA):c.2853G>A (p.Trp951Ter)
|
rs1555603436
|
|
NM_000152.5(GAA):c.2853del (p.Trp951fs)
|
rs1555603434
|
|
NM_000152.5(GAA):c.2855G>T (p.Cys952Phe)
|
|
|
NM_000152.5(GAA):c.2857T>C (p.Ter953Gln)
|
|
|
NM_000152.5(GAA):c.2858A>G (p.Ter953Trp)
|
rs958648168
|
|
NM_000152.5(GAA):c.2859G>A (p.Ter953=)
|
|
|
NM_000152.5(GAA):c.2859G>T (p.Ter953Tyr)
|
rs1334316018
|
|
NM_000152.5(GAA):c.289G>A (p.Ala97Thr)
|
rs2143827017
|
|
NM_000152.5(GAA):c.297C>G (p.Thr99=)
|
rs771846178
|
|
NM_000152.5(GAA):c.298C>G (p.Gln100Glu)
|
|
|
NM_000152.5(GAA):c.29A>T (p.His10Leu)
|
|
|
NM_000152.5(GAA):c.2T>C (p.Met1Thr)
|
rs2039024047
|
|
NM_000152.5(GAA):c.300G>A (p.Gln100=)
|
rs2143827134
|
|
NM_000152.5(GAA):c.303A>G (p.Glu101=)
|
rs2143827161
|
|
NM_000152.5(GAA):c.304C>T (p.Gln102Ter)
|
rs1432841878
|
|
NM_000152.5(GAA):c.307T>C (p.Cys103Arg)
|
rs398123174
|
|
NM_000152.5(GAA):c.308G>A (p.Cys103Tyr)
|
rs2143827215
|
|
NM_000152.5(GAA):c.309C>A (p.Cys103Ter)
|
rs373307393
|
|
NM_000152.5(GAA):c.309C>G (p.Cys103Trp)
|
rs373307393
|
|
NM_000152.5(GAA):c.30C>T (p.His10=)
|
|
|
NM_000152.5(GAA):c.310G>A (p.Glu104Lys)
|
rs201902338
|
|
NM_000152.5(GAA):c.310G>C (p.Glu104Gln)
|
rs201902338
|
|
NM_000152.5(GAA):c.311_313del (p.Glu104del)
|
rs2039038181
|
|
NM_000152.5(GAA):c.316C>G (p.Arg106Gly)
|
rs915675670
|
|
NM_000152.5(GAA):c.318C>A (p.Arg106=)
|
|
|
NM_000152.5(GAA):c.318_323dup (p.Gly107_Cys108dup)
|
rs2143827403
|
|
NM_000152.5(GAA):c.31C>G (p.Arg11Gly)
|
rs772394815
|
|
NM_000152.5(GAA):c.322T>A (p.Cys108Ser)
|
rs2039038743
|
|
NM_000152.5(GAA):c.323G>A (p.Cys108Tyr)
|
|
|
NM_000152.5(GAA):c.32G>T (p.Arg11Leu)
|
rs138812846
|
|
NM_000152.5(GAA):c.330C>T (p.Tyr110=)
|
|
|
NM_000152.5(GAA):c.333C>T (p.Ile111=)
|
|
|
NM_000152.5(GAA):c.340_341insT (p.Lys114fs)
|
rs2143827701
|
|
NM_000152.5(GAA):c.341A>G (p.Lys114Arg)
|
|
|
NM_000152.5(GAA):c.342del (p.Lys114fs)
|
rs1555598796
|
|
NM_000152.5(GAA):c.343C>T (p.Gln115Ter)
|
rs786204614
|
|
NM_000152.5(GAA):c.347G>A (p.Gly116Glu)
|
rs754285414
|
|
NM_000152.5(GAA):c.347G>C (p.Gly116Ala)
|
rs754285414
|
|
NM_000152.5(GAA):c.348G>T (p.Gly116=)
|
rs2143827789
|
|
NM_000152.5(GAA):c.352C>T (p.Gln118Ter)
|
rs1555598800
|
|
NM_000152.5(GAA):c.354G>A (p.Gln118=)
|
|
|
NM_000152.5(GAA):c.355G>A (p.Gly119Arg)
|
rs1555598802
|
|
NM_000152.5(GAA):c.355G>T (p.Gly119Ter)
|
rs1555598802
|
|
NM_000152.5(GAA):c.357A>C (p.Gly119=)
|
|
|
NM_000152.5(GAA):c.361C>T (p.Gln121Ter)
|
rs750668627
|
|
NM_000152.5(GAA):c.368G>T (p.Gly123Val)
|
rs138034915
|
|
NM_000152.5(GAA):c.371_381del (p.Gln124fs)
|
|
|
NM_000152.5(GAA):c.376del (p.Trp126fs)
|
rs1555598824
|
|
NM_000152.5(GAA):c.377G>A (p.Trp126Ter)
|
rs1011631903
|
|
NM_000152.5(GAA):c.378G>A (p.Trp126Ter)
|
rs2039041225
|
|
NM_000152.5(GAA):c.379_380del (p.Cys127fs)
|
rs1207988953
|
|
NM_000152.5(GAA):c.381C>T (p.Cys127=)
|
|
|
NM_000152.5(GAA):c.383T>C (p.Phe128Ser)
|
rs2039041547
|
|
NM_000152.5(GAA):c.389del (p.Pro130fs)
|
|
|
NM_000152.5(GAA):c.391CCCAGCTAC[3] (p.131PSY[3])
|
rs1555598846
|
|
NM_000152.5(GAA):c.393C>G (p.Pro131=)
|
rs769276948
|
|
NM_000152.5(GAA):c.393del (p.Ser132fs)
|
rs1057517381
|
|
NM_000152.5(GAA):c.396C>G (p.Ser132Arg)
|
rs2143828304
|
|
NM_000152.5(GAA):c.396dup (p.Tyr133fs)
|
|
|
NM_000152.5(GAA):c.399C>A (p.Tyr133Ter)
|
rs2039042313
|
|
NM_000152.5(GAA):c.399C>T (p.Tyr133=)
|
|
|
NM_000152.5(GAA):c.3G>A (p.Met1Ile)
|
rs1187796945
|
|
NM_000152.5(GAA):c.3G>T (p.Met1Ile)
|
|
|
NM_000152.5(GAA):c.407A>G (p.Tyr136Cys)
|
|
|
NM_000152.5(GAA):c.40_47del (p.Ala14fs)
|
|
|
NM_000152.5(GAA):c.411G>A (p.Lys137=)
|
|
|
NM_000152.5(GAA):c.414G>A (p.Leu138=)
|
|
|
NM_000152.5(GAA):c.415G>A (p.Glu139Lys)
|
|
|
NM_000152.5(GAA):c.419A>T (p.Asn140Ile)
|
|
|
NM_000152.5(GAA):c.41C>T (p.Ala14Val)
|
rs1221096819
|
|
NM_000152.5(GAA):c.421C>A (p.Leu141Met)
|
rs1379595858
|
|
NM_000152.5(GAA):c.423G>A (p.Leu141=)
|
|
|
NM_000152.5(GAA):c.423G>T (p.Leu141=)
|
rs2143828533
|
|
NM_000152.5(GAA):c.424_440del (p.Ser142fs)
|
|
|
NM_000152.5(GAA):c.427T>G (p.Ser143Ala)
|
rs1423110429
|
|
NM_000152.5(GAA):c.42C>T (p.Ala14=)
|
rs141377453
|
|
NM_000152.5(GAA):c.433G>A (p.Glu145Lys)
|
rs2143828679
|
|
NM_000152.5(GAA):c.437del (p.Met146fs)
|
rs1555598869
|
|
NM_000152.5(GAA):c.444C>G (p.Tyr148Ter)
|
rs886043112
|
|
NM_000152.5(GAA):c.446C>A (p.Thr149Lys)
|
|
|
NM_000152.5(GAA):c.448G>A (p.Ala150Thr)
|
rs991177340
|
|
NM_000152.5(GAA):c.448dup (p.Ala150fs)
|
rs1555598880
|
|
NM_000152.5(GAA):c.452C>T (p.Thr151Ile)
|
rs1567826289
|
|
NM_000152.5(GAA):c.456G>C (p.Leu152=)
|
rs1477781307
|
|
NM_000152.5(GAA):c.456_457dup (p.Thr153fs)
|
rs2143829023
|
|
NM_000152.5(GAA):c.460_465del (p.Arg154_Thr155del)
|
rs1555598888
|
|
NM_000152.5(GAA):c.461G>C (p.Arg154Pro)
|
rs781124934
|
|
NM_000152.5(GAA):c.461_469del (p.Arg154_Thr156del)
|
rs2039044722
|
|
NM_000152.5(GAA):c.465dup (p.Thr156fs)
|
|
|
NM_000152.5(GAA):c.466A>T (p.Thr156Ser)
|
rs1598570529
|
|
NM_000152.5(GAA):c.467C>A (p.Thr156Asn)
|
rs1394741472
|
|
NM_000152.5(GAA):c.467C>T (p.Thr156Ile)
|
rs1394741472
|
|
NM_000152.5(GAA):c.468C>G (p.Thr156=)
|
rs145849611
|
|
NM_000152.5(GAA):c.471del (p.Thr158fs)
|
rs1057517320
|
|
NM_000152.5(GAA):c.480C>T (p.Phe160=)
|
|
|
NM_000152.5(GAA):c.482C>A (p.Pro161His)
|
|
|
NM_000152.5(GAA):c.482_483del (p.Pro161fs)
|
rs764750389
|
|
NM_000152.5(GAA):c.485A>G (p.Lys162Arg)
|
|
|
NM_000152.5(GAA):c.487G>A (p.Asp163Asn)
|
rs1204103099
|
|
NM_000152.5(GAA):c.490_524del (p.Asp163_Ile164insTer)
|
|
|
NM_000152.5(GAA):c.497C>T (p.Thr166Ile)
|
|
|
NM_000152.5(GAA):c.498C>T (p.Thr166=)
|
|
|
NM_000152.5(GAA):c.499C>T (p.Leu167=)
|
|
|
NM_000152.5(GAA):c.49G>T (p.Ala17Ser)
|
rs751425831
|
|
NM_000152.5(GAA):c.4G>T (p.Gly2Ter)
|
rs1567825175
|
|
NM_000152.5(GAA):c.501G>A (p.Leu167=)
|
rs1276415397
|
|
NM_000152.5(GAA):c.501_502delinsAA (p.Leu167_Arg168=)
|
rs2143829361
|
|
NM_000152.5(GAA):c.502C>A (p.Arg168=)
|
|
|
NM_000152.5(GAA):c.503G>C (p.Arg168Pro)
|
rs376685205
|
|
NM_000152.5(GAA):c.504G>T (p.Arg168=)
|
|
|
NM_000152.5(GAA):c.511del (p.Asp170_Val171insTer)
|
rs2143829478
|
|
NM_000152.5(GAA):c.513G>C (p.Val171=)
|
|
|
NM_000152.5(GAA):c.515T>C (p.Met172Thr)
|
|
|
NM_000152.5(GAA):c.520_526del (p.Glu174fs)
|
|
|
NM_000152.5(GAA):c.522G>A (p.Glu174=)
|
|
|
NM_000152.5(GAA):c.525T>C (p.Thr175=)
|
rs2039047153
|
|
NM_000152.5(GAA):c.525_526del (p.Asn177fs)
|
rs767882689
|
|
NM_000152.5(GAA):c.528_529del (p.Asn177fs)
|
rs2143829649
|
|
NM_000152.5(GAA):c.52C>T (p.Leu18Phe)
|
|
|
NM_000152.5(GAA):c.531C>T (p.Asn177=)
|
rs886053544
|
|
NM_000152.5(GAA):c.534C>G (p.Arg178=)
|
rs765613378
|
|
NM_000152.5(GAA):c.543C>T (p.Phe181=)
|
rs1567826499
|
|
NM_000152.5(GAA):c.545C>G (p.Thr182Arg)
|
rs200524747
|
|
NM_000152.5(GAA):c.545C>T (p.Thr182Met)
|
rs200524747
|
|
NM_000152.5(GAA):c.546+10G>A
|
|
|
NM_000152.5(GAA):c.546+12_546+17del
|
rs1567826548
|
|
NM_000152.5(GAA):c.546+12_546+17dup
|
|
|
NM_000152.5(GAA):c.546+13GGGGCG[3]
|
|
|
NM_000152.5(GAA):c.546+16G>A
|
|
|
NM_000152.5(GAA):c.546+16G>C
|
rs1043184942
|
|
NM_000152.5(GAA):c.546+16G>T
|
|
|
NM_000152.5(GAA):c.546+1G>T
|
|
|
NM_000152.5(GAA):c.546+20G>A
|
|
|
NM_000152.5(GAA):c.546+20_546+25del
|
|
|
NM_000152.5(GAA):c.546+2T>C
|
|
|
NM_000152.5(GAA):c.546+2_546+5del
|
rs1181354869
|
|
NM_000152.5(GAA):c.546+3GGGCA[3]
|
|
|
NM_000152.5(GAA):c.546+5G>A
|
|
|
NM_000152.5(GAA):c.546+5G>T
|
rs756024023
|
|
NM_000152.5(GAA):c.546+7A>G
|
rs1329049814
|
|
NM_000152.5(GAA):c.546+7_546+12del
|
|
|
NM_000152.5(GAA):c.546+8G>A
|
rs200107080
|
|
NM_000152.5(GAA):c.546+9G>A
|
rs2143829950
|
|
NM_000152.5(GAA):c.546G>C (p.Thr182=)
|
rs143523371
|
|
NM_000152.5(GAA):c.546G>T (p.Thr182=)
|
rs143523371
|
|
NM_000152.5(GAA):c.547-15C>T
|
|
|
NM_000152.5(GAA):c.547-16C>G
|
|
|
NM_000152.5(GAA):c.547-1G>C
|
rs2143833579
|
|
NM_000152.5(GAA):c.547-4C>A
|
rs3816256
|
|
NM_000152.5(GAA):c.547-5_547-4delinsGG
|
|
|
NM_000152.5(GAA):c.547-9C>T
|
rs746507322
|
|
NM_000152.5(GAA):c.547A>G (p.Ile183Val)
|
|
|
NM_000152.5(GAA):c.54C>G (p.Leu18=)
|
rs886053542
|
|
NM_000152.5(GAA):c.54C>T (p.Leu18=)
|
rs886053542
|
|
NM_000152.5(GAA):c.552A>G (p.Lys184=)
|
|
|
NM_000152.5(GAA):c.557C>A (p.Pro186Gln)
|
|
|
NM_000152.5(GAA):c.55del (p.Val19fs)
|
rs1555598544
|
|
NM_000152.5(GAA):c.561T>A (p.Ala187=)
|
|
|
NM_000152.5(GAA):c.564C>T (p.Asn188=)
|
rs2039068461
|
|
NM_000152.5(GAA):c.566G>A (p.Arg189Lys)
|
rs1598571878
|
|
NM_000152.5(GAA):c.567G>A (p.Arg189=)
|
|
|
NM_000152.5(GAA):c.569G>A (p.Arg190His)
|
rs528367092
|
|
NM_000152.5(GAA):c.569G>T (p.Arg190Leu)
|
rs528367092
|
|
NM_000152.5(GAA):c.571T>G (p.Tyr191Asp)
|
rs149295512
|
|
NM_000152.5(GAA):c.572A>G (p.Tyr191Cys)
|
|
|
NM_000152.5(GAA):c.573C>A (p.Tyr191Ter)
|
rs376229714
|
|
NM_000152.5(GAA):c.573C>T (p.Tyr191=)
|
rs376229714
|
|
NM_000152.5(GAA):c.579G>A (p.Val193=)
|
rs764299738
|
|
NM_000152.5(GAA):c.583T>C (p.Leu195=)
|
rs1323831512
|
|
NM_000152.5(GAA):c.583T>G (p.Leu195Val)
|
rs1323831512
|
|
NM_000152.5(GAA):c.584T>A (p.Leu195Ter)
|
|
|
NM_000152.5(GAA):c.587del (p.Glu196fs)
|
|
|
NM_000152.5(GAA):c.58T>A (p.Ser20Thr)
|
|
|
NM_000152.5(GAA):c.590C>A (p.Thr197Asn)
|
rs761890037
|
|
NM_000152.5(GAA):c.590C>T (p.Thr197Ile)
|
rs761890037
|
|
NM_000152.5(GAA):c.593C>A (p.Pro198Gln)
|
rs765075888
|
|
NM_000152.5(GAA):c.593C>T (p.Pro198Leu)
|
|
|
NM_000152.5(GAA):c.594G>C (p.Pro198=)
|
rs1426823689
|
|
NM_000152.5(GAA):c.594G>T (p.Pro198=)
|
rs1426823689
|
|
NM_000152.5(GAA):c.595_596inv (p.His199Cys)
|
|
|
NM_000152.5(GAA):c.596A>T (p.His199Leu)
|
|
|
NM_000152.5(GAA):c.596_600delinsGTGT (p.His199fs)
|
|
|
NM_000152.5(GAA):c.598G>T (p.Val200Phe)
|
|
|
NM_000152.5(GAA):c.599T>A (p.Val200Asp)
|
|
|
NM_000152.5(GAA):c.59C>G (p.Ser20Cys)
|
rs752449306
|
|
NM_000152.5(GAA):c.5G>C (p.Gly2Ala)
|
rs1245992455
|
|
NM_000152.5(GAA):c.609G>T (p.Arg203=)
|
|
|
NM_000152.5(GAA):c.612A>G (p.Ala204=)
|
|
|
NM_000152.5(GAA):c.613C>G (p.Pro205Ala)
|
|
|
NM_000152.5(GAA):c.613C>T (p.Pro205Ser)
|
|
|
NM_000152.5(GAA):c.616T>C (p.Ser206Pro)
|
|
|
NM_000152.5(GAA):c.618C>A (p.Ser206=)
|
rs146292898
|
|
NM_000152.5(GAA):c.618C>G (p.Ser206=)
|
rs146292898
|
|
NM_000152.5(GAA):c.619C>T (p.Pro207Ser)
|
|
|
NM_000152.5(GAA):c.621A>C (p.Pro207=)
|
|
|
NM_000152.5(GAA):c.623T>C (p.Leu208Pro)
|
rs2039071572
|
|
NM_000152.5(GAA):c.624C>G (p.Leu208=)
|
rs2143834295
|
|
NM_000152.5(GAA):c.626A>G (p.Tyr209Cys)
|
|
|
NM_000152.5(GAA):c.627C>T (p.Tyr209=)
|
rs1460607546
|
|
NM_000152.5(GAA):c.632_643del (p.Val211_Ser214del)
|
rs1555599099
|
|
NM_000152.5(GAA):c.633G>A (p.Val211=)
|
rs2143834416
|
|
NM_000152.5(GAA):c.637T>C (p.Phe213Leu)
|
|
|
NM_000152.5(GAA):c.639C>T (p.Phe213=)
|
rs2143834450
|
|
NM_000152.5(GAA):c.639del (p.Ser214fs)
|
rs2143834462
|
|
NM_000152.5(GAA):c.642C>A (p.Ser214=)
|
rs1800301
|
|
NM_000152.5(GAA):c.643G>T (p.Glu215Ter)
|
rs201286896
|
|
NM_000152.5(GAA):c.649C>T (p.Pro217Ser)
|
rs1567827215
|
|
NM_000152.5(GAA):c.651C>A (p.Pro217=)
|
rs2039072589
|
|
NM_000152.5(GAA):c.656G>A (p.Gly219Glu)
|
|
|
NM_000152.5(GAA):c.657G>A (p.Gly219=)
|
rs2039072905
|
|
NM_000152.5(GAA):c.658dup (p.Val220fs)
|
rs2143834640
|
|
NM_000152.5(GAA):c.663C>A (p.Ile221=)
|
rs142878958
|
|
NM_000152.5(GAA):c.663C>G (p.Ile221Met)
|
rs142878958
|
|
NM_000152.5(GAA):c.666G>A (p.Val222=)
|
|
|
NM_000152.5(GAA):c.667C>T (p.Arg223Cys)
|
rs886043961
|
|
NM_000152.5(GAA):c.667_668delinsTA (p.Arg223Tyr)
|
rs2143834814
|
|
NM_000152.5(GAA):c.671G>C (p.Arg224Pro)
|
rs200210219
|
|
NM_000152.5(GAA):c.671G>T (p.Arg224Leu)
|
|
|
NM_000152.5(GAA):c.678G>T (p.Leu226=)
|
|
|
NM_000152.5(GAA):c.679G>T (p.Asp227Tyr)
|
rs1477774826
|
|
NM_000152.5(GAA):c.683dup (p.Arg229fs)
|
rs2143834983
|
|
NM_000152.5(GAA):c.684C>T (p.Gly228=)
|
|
|
NM_000152.5(GAA):c.686G>C (p.Arg229Pro)
|
rs776509432
|
|
NM_000152.5(GAA):c.688G>A (p.Val230Met)
|
rs145866792
|
|
NM_000152.5(GAA):c.688G>C (p.Val230Leu)
|
rs145866792
|
|
NM_000152.5(GAA):c.68C>T (p.Thr23Ile)
|
rs2039027538
|
|
NM_000152.5(GAA):c.692+11G>C
|
|
|
NM_000152.5(GAA):c.692+12G>A
|
rs1326313088
|
|
NM_000152.5(GAA):c.692+12G>T
|
rs1326313088
|
|
NM_000152.5(GAA):c.692+17G>A
|
|
|
NM_000152.5(GAA):c.692+1G>A
|
rs773281453
|
|
NM_000152.5(GAA):c.692+1G>C
|
rs773281453
|
|
NM_000152.5(GAA):c.692+1G>T
|
|
|
NM_000152.5(GAA):c.692+20C>T
|
|
|
NM_000152.5(GAA):c.692+2T>C
|
rs1555599171
|
|
NM_000152.5(GAA):c.692+8C>G
|
|
|
NM_000152.5(GAA):c.693-10T>C
|
rs2143845612
|
|
NM_000152.5(GAA):c.693-11C>G
|
|
|
NM_000152.5(GAA):c.693-13C>T
|
rs760379754
|
|
NM_000152.5(GAA):c.693-14C>T
|
|
|
NM_000152.5(GAA):c.693-15G>A
|
|
|
NM_000152.5(GAA):c.693-19G>C
|
rs1271276827
|
|
NM_000152.5(GAA):c.693-19G>T
|
|
|
NM_000152.5(GAA):c.693-1G>C
|
rs2143845687
|
|
NM_000152.5(GAA):c.693-20G>A
|
|
|
NM_000152.5(GAA):c.693-2A>C
|
|
|
NM_000152.5(GAA):c.693-4G>A
|
rs200088236
|
|
NM_000152.5(GAA):c.693-5C>G
|
rs763538104
|
|
NM_000152.5(GAA):c.693-5del
|
rs1555599563
|
|
NM_000152.5(GAA):c.693-6C>G
|
|
|
NM_000152.5(GAA):c.693-6C>T
|
rs2143845646
|
|
NM_000152.5(GAA):c.693-7C>T
|
|
|
NM_000152.5(GAA):c.693-9G>C
|
|
|
NM_000152.5(GAA):c.69C>A (p.Thr23=)
|
rs746351336
|
|
NM_000152.5(GAA):c.700A>G (p.Thr234Ala)
|
|
|
NM_000152.5(GAA):c.703A>G (p.Thr235Ala)
|
rs781731240
|
|
NM_000152.5(GAA):c.708G>A (p.Val236=)
|
rs1308198041
|
|
NM_000152.5(GAA):c.708G>T (p.Val236=)
|
rs1308198041
|
|
NM_000152.5(GAA):c.710C>T (p.Ala237Val)
|
rs121907944
|
|
NM_000152.5(GAA):c.711G>C (p.Ala237=)
|
|
|
NM_000152.5(GAA):c.711_712dup (p.Pro238fs)
|
rs1555599586
|
|
NM_000152.5(GAA):c.712C>T (p.Pro238Ser)
|
rs1294294268
|
|
NM_000152.5(GAA):c.714C>A (p.Pro238=)
|
|
|
NM_000152.5(GAA):c.716T>C (p.Leu239Pro)
|
rs2143845990
|
|
NM_000152.5(GAA):c.716del (p.Leu239fs)
|
rs1555599594
|
|
NM_000152.5(GAA):c.717G>T (p.Leu239=)
|
|
|
NM_000152.5(GAA):c.722_723del (p.Phe241fs)
|
rs2039116471
|
|
NM_000152.5(GAA):c.723T>C (p.Phe241=)
|
|
|
NM_000152.5(GAA):c.725C>T (p.Ala242Val)
|
rs745861849
|
|
NM_000152.5(GAA):c.726G>C (p.Ala242=)
|
rs148578399
|
|
NM_000152.5(GAA):c.727_728insCCACCAGGACA (p.Asp243fs)
|
|
|
NM_000152.5(GAA):c.729C>A (p.Asp243Glu)
|
|
|
NM_000152.5(GAA):c.729C>T (p.Asp243=)
|
|
|
NM_000152.5(GAA):c.732G>C (p.Gln244His)
|
rs1178922366
|
|
NM_000152.5(GAA):c.733T>G (p.Phe245Val)
|
|
|
NM_000152.5(GAA):c.735C>T (p.Phe245=)
|
rs1264222457
|
|
NM_000152.5(GAA):c.736del (p.Leu246fs)
|
rs886043920
|
|
NM_000152.5(GAA):c.737T>G (p.Leu246Arg)
|
rs1555599608
|
|
NM_000152.5(GAA):c.739C>T (p.Gln247Ter)
|
|
|
NM_000152.5(GAA):c.741G>A (p.Gln247=)
|
|
|
NM_000152.5(GAA):c.742C>T (p.Leu248=)
|
|
|
NM_000152.5(GAA):c.747C>G (p.Ser249=)
|
|
|
NM_000152.5(GAA):c.747C>T (p.Ser249=)
|
rs1555599614
|
|
NM_000152.5(GAA):c.750C>T (p.Thr250=)
|
rs2143846283
|
|
NM_000152.5(GAA):c.752C>G (p.Ser251Trp)
|
|
|
NM_000152.5(GAA):c.753G>A (p.Ser251=)
|
rs761363283
|
|
NM_000152.5(GAA):c.753G>T (p.Ser251=)
|
rs761363283
|
|
NM_000152.5(GAA):c.754C>T (p.Leu252=)
|
rs1598575013
|
|
NM_000152.5(GAA):c.755dup (p.Pro253fs)
|
rs1555599619
|
|
NM_000152.5(GAA):c.756G>A (p.Leu252=)
|
|
|
NM_000152.5(GAA):c.757C>T (p.Pro253Ser)
|
rs2143846362
|
|
NM_000152.5(GAA):c.759C>T (p.Pro253=)
|
rs1352216789
|
|
NM_000152.5(GAA):c.759del (p.Ser254fs)
|
rs2039117815
|
|
NM_000152.5(GAA):c.75A>C (p.Ala25=)
|
rs1366159150
|
|
NM_000152.5(GAA):c.75A>G (p.Ala25=)
|
rs1366159150
|
|
NM_000152.5(GAA):c.75A>T (p.Ala25=)
|
|
|
NM_000152.5(GAA):c.763C>T (p.Gln255Ter)
|
rs2039118159
|
|
NM_000152.5(GAA):c.765G>A (p.Gln255=)
|
rs1450999199
|
|
NM_000152.5(GAA):c.766_767insC (p.Tyr256fs)
|
rs1555599637
|
|
NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs)
|
rs786204532
|
|
NM_000152.5(GAA):c.768dup (p.Ile257fs)
|
rs1555599644
|
|
NM_000152.5(GAA):c.769A>G (p.Ile257Val)
|
rs199674786
|
|
NM_000152.5(GAA):c.774A>C (p.Thr258=)
|
rs753112231
|
|
NM_000152.5(GAA):c.774A>G (p.Thr258=)
|
rs753112231
|
|
NM_000152.5(GAA):c.775G>A (p.Gly259Ser)
|
rs2143846660
|
|
NM_000152.5(GAA):c.777C>G (p.Gly259=)
|
|
|
NM_000152.5(GAA):c.777C>T (p.Gly259=)
|
|
|
NM_000152.5(GAA):c.77T>G (p.Leu26Arg)
|
rs1385098269
|
|
NM_000152.5(GAA):c.781G>C (p.Ala261Pro)
|
rs543360994
|
|
NM_000152.5(GAA):c.782C>T (p.Ala261Val)
|
rs2143846719
|
|
NM_000152.5(GAA):c.783C>A (p.Ala261=)
|
rs757356178
|
|
NM_000152.5(GAA):c.786G>A (p.Glu262=)
|
|
|
NM_000152.5(GAA):c.787C>T (p.His263Tyr)
|
rs1555599660
|
|
NM_000152.5(GAA):c.789C>T (p.His263=)
|
rs1336545018
|
|
NM_000152.5(GAA):c.78C>T (p.Leu26=)
|
rs2143824668
|
|
NM_000152.5(GAA):c.790C>T (p.Leu264Phe)
|
|
|
NM_000152.5(GAA):c.792C>G (p.Leu264=)
|
rs2143846838
|
|
NM_000152.5(GAA):c.792C>T (p.Leu264=)
|
|
|
NM_000152.5(GAA):c.794G>A (p.Ser265Asn)
|
rs772002851
|
|
NM_000152.5(GAA):c.796C>A (p.Pro266Thr)
|
rs1555599667
|
|
NM_000152.5(GAA):c.796C>T (p.Pro266Ser)
|
rs1555599667
|
|
NM_000152.5(GAA):c.797C>T (p.Pro266Leu)
|
rs1567828977
|
|
NM_000152.5(GAA):c.799_803delinsA (p.Leu267fs)
|
rs2039120342
|
|
NM_000152.5(GAA):c.79C>T (p.Leu27=)
|
rs538605208
|
|
NM_000152.5(GAA):c.806_830del (p.Leu269fs)
|
rs1598575231
|
|
NM_000152.5(GAA):c.807C>G (p.Leu269=)
|
|
|
NM_000152.5(GAA):c.809G>A (p.Ser270Asn)
|
rs1429834723
|
|
NM_000152.5(GAA):c.816C>G (p.Ser272Arg)
|
|
|
NM_000152.5(GAA):c.816C>T (p.Ser272=)
|
rs1405999158
|
|
NM_000152.5(GAA):c.821C>T (p.Thr274Ile)
|
|
|
NM_000152.5(GAA):c.822C>T (p.Thr274=)
|
|
|
NM_000152.5(GAA):c.827_845del (p.Ile276fs)
|
rs2143847172
|
|
NM_000152.5(GAA):c.829_830del (p.Thr277fs)
|
|
|
NM_000152.5(GAA):c.830C>T (p.Thr277Ile)
|
rs1598575278
|
|
NM_000152.5(GAA):c.836G>A (p.Trp279Ter)
|
rs2039122730
|
|
NM_000152.5(GAA):c.840_842dup (p.Arg281dup)
|
rs2039123030
|
|
NM_000152.5(GAA):c.841C>A (p.Arg281=)
|
|
|
NM_000152.5(GAA):c.844G>C (p.Asp282His)
|
|
|
NM_000152.5(GAA):c.846C>T (p.Asp282=)
|
rs1008936778
|
|
NM_000152.5(GAA):c.849T>C (p.Leu283=)
|
rs2143847519
|
|
NM_000152.5(GAA):c.84G>A (p.Gly28=)
|
rs769733901
|
|
NM_000152.5(GAA):c.84G>C (p.Gly28=)
|
|
|
NM_000152.5(GAA):c.84dup (p.His29fs)
|
|
|
NM_000152.5(GAA):c.851C>A (p.Ala284Glu)
|
|
|
NM_000152.5(GAA):c.851C>T (p.Ala284Val)
|
rs147569830
|
|
NM_000152.5(GAA):c.854C>G (p.Pro285Arg)
|
rs764622267
|
|
NM_000152.5(GAA):c.856del (p.Thr286fs)
|
|
|
NM_000152.5(GAA):c.858+10C>A
|
rs758283022
|
|
NM_000152.5(GAA):c.858+10C>T
|
rs758283022
|
|
NM_000152.5(GAA):c.858+11G>A
|
rs1464849313
|
|
NM_000152.5(GAA):c.858+12G>C
|
|
|
NM_000152.5(GAA):c.858+17_858+23del
|
rs1555599723
|
|
NM_000152.5(GAA):c.858+19G>T
|
|
|
NM_000152.5(GAA):c.858+1G>A
|
|
|
NM_000152.5(GAA):c.858+20G>T
|
|
|
NM_000152.5(GAA):c.858+2T>A
|
rs1555599713
|
|
NM_000152.5(GAA):c.858+4C>G
|
rs886042706
|
|
NM_000152.5(GAA):c.858+5A>G
|
rs2039124887
|
|
NM_000152.5(GAA):c.858+5_858+11dup
|
rs2039124972
|
|
NM_000152.5(GAA):c.858+6GCGGCGG[3]
|
rs1555599723
|
|
NM_000152.5(GAA):c.858+7_858+8insACCGGGC
|
rs3071247
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCAGGC
|
rs3071247
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC
|
rs3071247
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCAGCGGGC
|
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGC
|
rs3071247
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGCAGCGGGC
|
rs3071247
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGCGGCGGGC
|
rs3071247
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGT
|
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGTGGCGGGC
|
rs3071247
|
|
NM_000152.5(GAA):c.858+7_858+8insAGTGGGC
|
rs3071247
|
|
NM_000152.5(GAA):c.858+8_858+10delinsAGCGGGCGGT
|
rs1555599729
|
|
NM_000152.5(GAA):c.858+9G>A
|
|
|
NM_000152.5(GAA):c.859-10C>T
|
rs2143848802
|
|
NM_000152.5(GAA):c.859-14C>G
|
|
|
NM_000152.5(GAA):c.859-14C>T
|
|
|
NM_000152.5(GAA):c.859-16C>A
|
|
|
NM_000152.5(GAA):c.859-18G>C
|
|
|
NM_000152.5(GAA):c.859-1G>C
|
|
|
NM_000152.5(GAA):c.859-20C>T
|
|
|
NM_000152.5(GAA):c.859-2A>G
|
rs2143848897
|
|
NM_000152.5(GAA):c.859-3C>T
|
rs1356743231
|
|
NM_000152.5(GAA):c.859-4C>G
|
|
|
NM_000152.5(GAA):c.859-4C>T
|
rs749017942
|
|
NM_000152.5(GAA):c.859-5C>T
|
rs2143848848
|
|
NM_000152.5(GAA):c.859-7G>A
|
|
|
NM_000152.5(GAA):c.859-8T>G
|
rs2143848824
|
|
NM_000152.5(GAA):c.859-9A>G
|
rs888669731
|
|
NM_000152.5(GAA):c.861C>G (p.Pro287=)
|
|
|
NM_000152.5(GAA):c.866C>A (p.Ala289Glu)
|
|
|
NM_000152.5(GAA):c.867G>T (p.Ala289=)
|
rs534515557
|
|
NM_000152.5(GAA):c.870C>T (p.Asn290=)
|
|
|
NM_000152.5(GAA):c.872T>C (p.Leu291Pro)
|
rs2143849151
|
|
NM_000152.5(GAA):c.873C>T (p.Leu291=)
|
rs1598575713
|
|
NM_000152.5(GAA):c.873_874del (p.Tyr292fs)
|
|
|
NM_000152.5(GAA):c.874T>C (p.Tyr292His)
|
|
|
NM_000152.5(GAA):c.876C>G (p.Tyr292Ter)
|
rs763216519
|
|
NM_000152.5(GAA):c.879G>A (p.Gly293=)
|
rs2143849260
|
|
NM_000152.5(GAA):c.87C>T (p.His29=)
|
|
|
NM_000152.5(GAA):c.883C>A (p.His295Asn)
|
rs751639773
|
|
NM_000152.5(GAA):c.883C>T (p.His295Tyr)
|
rs751639773
|
|
NM_000152.5(GAA):c.889_890insG (p.Phe297fs)
|
|
|
NM_000152.5(GAA):c.894C>T (p.Tyr298=)
|
|
|
NM_000152.5(GAA):c.896T>C (p.Leu299Pro)
|
rs121907940
|
|
NM_000152.5(GAA):c.896T>G (p.Leu299Arg)
|
rs121907940
|
|
NM_000152.5(GAA):c.897G>C (p.Leu299=)
|
|
|
NM_000152.5(GAA):c.899C>A (p.Ala300Glu)
|
rs1032949450
|
|
NM_000152.5(GAA):c.8T>C (p.Val3Ala)
|
rs1037603957
|
|
NM_000152.5(GAA):c.900G>C (p.Ala300=)
|
|
|
NM_000152.5(GAA):c.900G>T (p.Ala300=)
|
rs759425304
|
|
NM_000152.5(GAA):c.904G>T (p.Glu302Ter)
|
rs2039131123
|
|
NM_000152.5(GAA):c.915G>T (p.Gly305=)
|
|
|
NM_000152.5(GAA):c.917C>A (p.Ser306Ter)
|
rs138097673
|
|
NM_000152.5(GAA):c.91C>T (p.Leu31=)
|
rs1295278849
|
|
NM_000152.5(GAA):c.921A>C (p.Ala307=)
|
rs1800303
|
|
NM_000152.5(GAA):c.922C>G (p.His308Asp)
|
|
|
NM_000152.5(GAA):c.923A>C (p.His308Pro)
|
rs2143849751
|
|
NM_000152.5(GAA):c.924C>A (p.His308Gln)
|
rs370105640
|
|
NM_000152.5(GAA):c.925G>T (p.Gly309Trp)
|
|
|
NM_000152.5(GAA):c.927G>T (p.Gly309=)
|
rs886043779
|
|
NM_000152.5(GAA):c.928G>A (p.Val310Met)
|
|
|
NM_000152.5(GAA):c.928G>T (p.Val310Leu)
|
rs941586376
|
|
NM_000152.5(GAA):c.930G>A (p.Val310=)
|
rs2143849884
|
|
NM_000152.5(GAA):c.930del (p.Phe311fs)
|
|
|
NM_000152.5(GAA):c.934C>T (p.Leu312=)
|
|
|
NM_000152.5(GAA):c.934del (p.Leu312fs)
|
rs886042358
|
|
NM_000152.5(GAA):c.935del (p.Leu312fs)
|
|
|
NM_000152.5(GAA):c.936G>A (p.Leu312=)
|
rs1456154347
|
|
NM_000152.5(GAA):c.93_95del (p.Leu32del)
|
rs1278892703
|
|
NM_000152.5(GAA):c.942C>T (p.Asn314=)
|
rs2143850004
|
|
NM_000152.5(GAA):c.953T>A (p.Met318Lys)
|
rs121907936
|
|
NM_000152.5(GAA):c.954G>A (p.Met318Ile)
|
rs2143850104
|
|
NM_000152.5(GAA):c.955+10C>A
|
rs2143850207
|
|
NM_000152.5(GAA):c.955+11C>G
|
|
|
NM_000152.5(GAA):c.955+11C>T
|
|
|
NM_000152.5(GAA):c.955+12_955+18del
|
|
|
NM_000152.5(GAA):c.955+13C>T
|
|
|
NM_000152.5(GAA):c.955+14C>T
|
rs756921041
|
|
NM_000152.5(GAA):c.955+17C>T
|
rs2143850296
|
|
NM_000152.5(GAA):c.955+18C>T
|
|
|
NM_000152.5(GAA):c.955+19A>G
|
|
|
NM_000152.5(GAA):c.955+1G>A
|
rs1403691329
|
|
NM_000152.5(GAA):c.955+1del
|
|
|
NM_000152.5(GAA):c.955+20G>C
|
|
|
NM_000152.5(GAA):c.955+43G>C
|
|
|
NM_000152.5(GAA):c.955+5G>A
|
rs759508507
|
|
NM_000152.5(GAA):c.955+9C>T
|
|
|
NM_000152.5(GAA):c.955G>A (p.Asp319Asn)
|
rs1359009455
|
|
NM_000152.5(GAA):c.956-11T>C
|
rs2143852431
|
|
NM_000152.5(GAA):c.956-13G>T
|
|
|
NM_000152.5(GAA):c.956-17A>T
|
rs2039141211
|
|
NM_000152.5(GAA):c.956-3C>T
|
rs1421879461
|
|
NM_000152.5(GAA):c.956-4C>T
|
rs2143852512
|
|
NM_000152.5(GAA):c.956-5_957del
|
|
|
NM_000152.5(GAA):c.956-7C>G
|
|
|
NM_000152.5(GAA):c.956-8C>A
|
rs369149976
|
|
NM_000152.5(GAA):c.956-8C>T
|
rs369149976
|
|
NM_000152.5(GAA):c.956A>G (p.Asp319Gly)
|
|
|
NM_000152.5(GAA):c.958_959delinsAG (p.Val320Arg)
|
|
|
NM_000152.5(GAA):c.960G>A (p.Val320=)
|
rs2143852588
|
|
NM_000152.5(GAA):c.961G>A (p.Val321Ile)
|
rs895612400
|
|
NM_000152.5(GAA):c.961G>T (p.Val321Phe)
|
|
|
NM_000152.5(GAA):c.966G>A (p.Leu322=)
|
rs1197362128
|
|
NM_000152.5(GAA):c.967C>T (p.Gln323Ter)
|
|
|
NM_000152.5(GAA):c.96C>G (p.Leu32=)
|
rs1598569164
|
|
NM_000152.5(GAA):c.971C>G (p.Pro324Arg)
|
|
|
NM_000152.5(GAA):c.971dup (p.Ser325fs)
|
rs2143852733
|
|
NM_000152.5(GAA):c.972G>C (p.Pro324=)
|
rs763445243
|
|
NM_000152.5(GAA):c.974G>A (p.Ser325Asn)
|
rs905633601
|
|
NM_000152.5(GAA):c.976C>T (p.Pro326Ser)
|
rs2039142344
|
|
NM_000152.5(GAA):c.982C>T (p.Leu328Phe)
|
rs1555599956
|
|
NM_000152.5(GAA):c.988_998del (p.Trp330fs)
|
|
|
NM_000152.5(GAA):c.989G>A (p.Trp330Ter)
|
rs1555599960
|
|
NM_000152.5(GAA):c.98A>G (p.His33Arg)
|
rs773479616
|
|
NM_000152.5(GAA):c.990G>C (p.Trp330Cys)
|
|
|
NM_000152.5(GAA):c.996G>T (p.Ser332=)
|
rs779266179
|
|
NM_000152.5(GAA):c.999A>G (p.Thr333=)
|
rs1598576668
|
|
NM_000152.5(GAA):c.[2228A>G;2237G>C]
|
|
|
NM_000152.5(GAA):c.[752C>T;761C>T]
|
|
|
NM_000157.3(GBA1):c.[1197G>T];[1603C>T]
|
|
|
NM_000157.3(GBA1):c.[1448T>C];[167T>G]
|
|
|
NM_000157.3(GBA1):c.[1448T>C];[407C>T]
|
|
|
NM_000157.4(GBA1):c.*92G>A
|
|
|
NM_000157.4(GBA1):c.1043C>T (p.Ala348Val)
|
rs78396650
|
|
NM_000157.4(GBA1):c.1052G>C (p.Trp351Ser)
|
rs1553217294
|
|
NM_000157.4(GBA1):c.1053G>T (p.Trp351Cys)
|
rs121908304
|
|
NM_000157.4(GBA1):c.1077C>A (p.Ala359=)
|
rs1671753933
|
|
NM_000157.4(GBA1):c.10T>C (p.Ser4Pro)
|
rs2148083300
|
|
NM_000157.4(GBA1):c.1171G>C (p.Val391Leu)
|
rs398123527
|
|
NM_000157.4(GBA1):c.1177C>G (p.Leu393Val)
|
rs878853315
|
|
NM_000157.4(GBA1):c.1192C>T (p.Arg398Ter)
|
rs121908309
|
|
NM_000157.4(GBA1):c.1208G>C (p.Ser403Thr)
|
rs121908307
|
|
NM_000157.4(GBA1):c.1214G>C (p.Ser405Thr)
|
rs1392291885
|
|
NM_000157.4(GBA1):c.1228C>G (p.Leu410Val)
|
rs121908314
|
|
NM_000157.4(GBA1):c.1238A>C (p.His413Pro)
|
rs911331923
|
|
NM_000157.4(GBA1):c.1240G>T (p.Val414Leu)
|
rs398123528
|
|
NM_000157.4(GBA1):c.1249T>G (p.Trp417Gly)
|
rs1450426641
|
|
NM_000157.4(GBA1):c.1255G>A (p.Asp419Asn)
|
rs1671712475
|
|
NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs)
|
rs80356768
|
|
NM_000157.4(GBA1):c.1271T>C (p.Leu424Pro)
|
rs772548282
|
|
NM_000157.4(GBA1):c.1319C>T (p.Pro440Leu)
|
rs74598136
|
|
NM_000157.4(GBA1):c.1343A>T (p.Asp448Val)
|
rs77369218
|
|
NM_000157.4(GBA1):c.1388+2T>C
|
rs1571965880
|
|
NM_000157.4(GBA1):c.1388G>C (p.Ser463Thr)
|
rs1571965884
|
|
NM_000157.4(GBA1):c.1397T>G (p.Ile466Ser)
|
rs878853320
|
|
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)
|
rs421016
|
|
NM_000157.4(GBA1):c.1448T>G (p.Leu483Arg)
|
rs421016
|
|
NM_000157.4(GBA1):c.1459G>A (p.Ala487Thr)
|
rs878853317
|
|
NM_000157.4(GBA1):c.1474G>A (p.Asp492Asn)
|
rs779958429
|
|
NM_000157.4(GBA1):c.1495G>C (p.Val499Leu)
|
rs369068553
|
|
NM_000157.4(GBA1):c.1506-10_1506-9delinsGA
|
rs1557900564
|
|
NM_000157.4(GBA1):c.1549G>A (p.Gly517Ser)
|
rs121908301
|
|
NM_000157.4(GBA1):c.155C>T (p.Ser52Leu)
|
|
|
NM_000157.4(GBA1):c.1599G>A (p.Trp533Ter)
|
rs1671655923
|
|
NM_000157.4(GBA1):c.160G>T (p.Val54Leu)
|
rs121908302
|
|
NM_000157.4(GBA1):c.203dup (p.Thr69fs)
|
rs1170895261
|
|
NM_000157.4(GBA1):c.254G>A (p.Gly85Glu)
|
rs77829017
|
|
NM_000157.4(GBA1):c.260G>A (p.Arg87Gln)
|
|
|
NM_000157.4(GBA1):c.354G>C (p.Lys118Asn)
|
rs121908312
|
|
NM_000157.4(GBA1):c.370A>G (p.Met124Val)
|
|
|
NM_000157.4(GBA1):c.403_404del (p.Leu135fs)
|
rs1671970302
|
|
NM_000157.4(GBA1):c.415G>C (p.Ala139Pro)
|
rs878853314
|
|
NM_000157.4(GBA1):c.444del (p.Ser149fs)
|
|
|
NM_000157.4(GBA1):c.44T>C (p.Leu15Ser)
|
|
|
NM_000157.4(GBA1):c.481C>T (p.Pro161Ser)
|
rs121908299
|
|
NM_000157.4(GBA1):c.484A>G (p.Met162Val)
|
|
|
NM_000157.4(GBA1):c.508C>T (p.Arg170Cys)
|
rs398123530
|
|
NM_000157.4(GBA1):c.509G>A (p.Arg170His)
|
rs80356763
|
|
NM_000157.4(GBA1):c.526G>A (p.Asp176Asn)
|
rs1553217946
|
|
NM_000157.4(GBA1):c.533del (p.Pro178fs)
|
rs397518434
|
|
NM_000157.4(GBA1):c.557del (p.Phe186fs)
|
rs1671890998
|
|
NM_000157.4(GBA1):c.586A>C (p.Lys196Gln)
|
rs121908297
|
|
NM_000157.4(GBA1):c.622C>T (p.Gln208Ter)
|
|
|
NM_000157.4(GBA1):c.653G>A (p.Trp218Ter)
|
rs867929413
|
|
NM_000157.4(GBA1):c.661C>A (p.Pro221Thr)
|
rs866075757
|
|
NM_000157.4(GBA1):c.73del (p.Leu25fs)
|
rs397518433
|
|
NM_000157.4(GBA1):c.751T>C (p.Tyr251His)
|
rs121908300
|
|
NM_000157.4(GBA1):c.763T>G (p.Phe255Val)
|
rs121908303
|
|
NM_000157.4(GBA1):c.866G>C (p.Gly289Ala)
|
rs878853321
|
|
NM_000157.4(GBA1):c.898G>A (p.Ala300Thr)
|
rs1671824775
|
|
NM_000157.4(GBA1):c.907C>A (p.Leu303Ile)
|
|
|
NM_000157.4(GBA1):c.913C>G (p.Pro305Ala)
|
rs770796008
|
|
NM_000157.4(GBA1):c.914C>T (p.Pro305Leu)
|
rs79215220
|
|
NM_000157.4(GBA1):c.914del (p.Pro305fs)
|
rs1366567865
|
|
NM_000157.4(GBA1):c.929G>A (p.Ser310Asn)
|
rs74731340
|
|
NM_000157.4(GBA1):c.970C>T (p.Arg324Cys)
|
rs765633380
|
|
NM_000157.4(GBA1):c.983C>T (p.Pro328Leu)
|
rs121908298
|
|
NM_000157.4(GBA1):c.999+242C>A
|
rs1571969643
|
|
NM_000179.3(MSH6):c.3822dup (p.Cys1275fs)
|
rs1553333346
|
|
NM_000203.3(IDUA):c.[1225G>C;1962A>T]
|
|
|
NM_000203.4(IDUA):c.199A>T (p.Ser67Cys)
|
rs370442463
|
|
NM_000203.5(IDUA):c.1029C>A (p.Tyr343Ter)
|
rs764196171
|
|
NM_000203.5(IDUA):c.1029C>G (p.Tyr343Ter)
|
rs764196171
|
|
NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg)
|
rs121965033
|
|
NM_000203.5(IDUA):c.1044C>G (p.Asn348Lys)
|
rs746766617
|
|
NM_000203.5(IDUA):c.1045_1047del (p.Asp349del)
|
rs1230096882
|
|
NM_000203.5(IDUA):c.1048A>G (p.Asn350Asp)
|
|
|
NM_000203.5(IDUA):c.1073_1093del (p.His358_Thr364del)
|
rs1214495121
|
|
NM_000203.5(IDUA):c.1083G>A (p.Ala361=)
|
rs1553917295
|
|
NM_000203.5(IDUA):c.1091C>T (p.Thr364Met)
|
rs121965032
|
|
NM_000203.5(IDUA):c.1096A>C (p.Thr366Pro)
|
rs121965024
|
|
NM_000203.5(IDUA):c.1096_1099del (p.Thr366fs)
|
rs2153022399
|
|
NM_000203.5(IDUA):c.1115A>G (p.Asn372Ser)
|
rs1553917304
|
|
NM_000203.5(IDUA):c.1160T>C (p.Leu387Pro)
|
rs1553917310
|
|
NM_000203.5(IDUA):c.1161C>T (p.Leu387=)
|
rs1553917312
|
|
NM_000203.5(IDUA):c.1163C>T (p.Thr388Met)
|
rs794727896
|
|
NM_000203.5(IDUA):c.1163del (p.Thr388fs)
|
rs1577541504
|
|
NM_000203.5(IDUA):c.1189+5G>A
|
rs1553917318
|
|
NM_000203.5(IDUA):c.1192GAG[1] (p.Glu399del)
|
|
|
NM_000203.5(IDUA):c.1206G>A (p.Trp402Ter)
|
rs991612107
|
|
NM_000203.5(IDUA):c.1207G>A (p.Ala403Thr)
|
rs1715176840
|
|
NM_000203.5(IDUA):c.1210G>T (p.Glu404Ter)
|
rs1340421020
|
|
NM_000203.5(IDUA):c.1249_1275del (p.Thr417_His425del)
|
rs1450080299
|
|
NM_000203.5(IDUA):c.1250C>A (p.Thr417Lys)
|
rs1464048268
|
|
NM_000203.5(IDUA):c.1269C>A (p.Ser423Arg)
|
rs931627770
|
|
NM_000203.5(IDUA):c.1276_1282dup (p.Gln428fs)
|
rs1445719596
|
|
NM_000203.5(IDUA):c.1366_1389del (p.Val456_Val463del)
|
rs1553917418
|
|
NM_000203.5(IDUA):c.1395dup (p.Gly466fs)
|
rs1386109118
|
|
NM_000203.5(IDUA):c.1402+1G>A
|
rs398123254
|
|
NM_000203.5(IDUA):c.1402+2T>G
|
rs1553917428
|
|
NM_000203.5(IDUA):c.1424_1426del (p.Tyr475del)
|
rs1553917455
|
|
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro)
|
rs121965027
|
|
NM_000203.5(IDUA):c.1475G>C (p.Arg492Pro)
|
rs121965026
|
|
NM_000203.5(IDUA):c.1477C>A (p.Pro493Thr)
|
rs894585162
|
|
NM_000203.5(IDUA):c.1478C>G (p.Pro493Arg)
|
rs375819348
|
|
NM_000203.5(IDUA):c.1496_1497del (p.Glu499fs)
|
rs2153022799
|
|
NM_000203.5(IDUA):c.1524+1G>T
|
rs1553917483
|
|
NM_000203.5(IDUA):c.156C>G (p.Phe52Leu)
|
rs1421520718
|
|
NM_000203.5(IDUA):c.159-1G>A
|
rs1553914935
|
|
NM_000203.5(IDUA):c.159-9T>A
|
|
|
NM_000203.5(IDUA):c.1591del (p.Arg531fs)
|
rs1553917558
|
|
NM_000203.5(IDUA):c.1602del (p.Leu535fs)
|
rs1553917566
|
|
NM_000203.5(IDUA):c.1650+1G>A
|
rs1434521185
|
|
NM_000203.5(IDUA):c.1650+2C>G
|
rs1553917580
|
|
NM_000203.5(IDUA):c.1650+5G>A
|
rs398123256
|
|
NM_000203.5(IDUA):c.1652T>A (p.Val551Asp)
|
|
|
NM_000203.5(IDUA):c.1655C>T (p.Thr552Met)
|
|
|
NM_000203.5(IDUA):c.1708G>C (p.Asp570His)
|
rs1553917627
|
|
NM_000203.5(IDUA):c.1728-2A>G
|
rs1553917699
|
|
NM_000203.5(IDUA):c.1759C>T (p.Gln587Ter)
|
|
|
NM_000203.5(IDUA):c.1829-2A>G
|
rs1553917733
|
|
NM_000203.5(IDUA):c.1832_1833del (p.Thr611fs)
|
rs1553917735
|
|
NM_000203.5(IDUA):c.1845_1846del (p.Gly616fs)
|
rs1553917737
|
|
NM_000203.5(IDUA):c.1854C>A (p.Tyr618Ter)
|
rs746936485
|
|
NM_000203.5(IDUA):c.1855C>G (p.Arg619Gly)
|
rs121965031
|
|
NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter)
|
rs121965025
|
|
NM_000203.5(IDUA):c.1867del (p.Leu623fs)
|
rs1553917747
|
|
NM_000203.5(IDUA):c.1868T>C (p.Leu623Pro)
|
rs2153023287
|
|
NM_000203.5(IDUA):c.1868_1892del (p.Leu623fs)
|
rs1553917746
|
|
NM_000203.5(IDUA):c.1874A>G (p.Tyr625Cys)
|
rs587779401
|
|
NM_000203.5(IDUA):c.1877G>A (p.Trp626Ter)
|
rs1456090810
|
|
NM_000203.5(IDUA):c.187C>T (p.Gln63Ter)
|
rs2153015621
|
|
NM_000203.5(IDUA):c.1889G>A (p.Gly630Asp)
|
rs2153023301
|
|
NM_000203.5(IDUA):c.1893del (p.Phe632fs)
|
rs1553917754
|
|
NM_000203.5(IDUA):c.1897del (p.Ser633fs)
|
rs1553917756
|
|
NM_000203.5(IDUA):c.1914C>G (p.Tyr638Ter)
|
rs768467230
|
|
NM_000203.5(IDUA):c.1918G>T (p.Glu640Ter)
|
rs1553917764
|
|
NM_000203.5(IDUA):c.192C>A (p.Tyr64Ter)
|
rs121965022
|
|
NM_000203.5(IDUA):c.1A>C (p.Met1Leu)
|
rs1553914737
|
|
NM_000203.5(IDUA):c.271del (p.His91fs)
|
|
|
NM_000203.5(IDUA):c.299+1078del
|
rs1553915149
|
|
NM_000203.5(IDUA):c.299+1089del
|
rs1553915155
|
|
NM_000203.5(IDUA):c.299+1127del
|
rs1553915173
|
|
NM_000203.5(IDUA):c.299+1212del
|
rs1553915188
|
|
NM_000203.5(IDUA):c.299+1225G>A
|
rs200798328
|
|
NM_000203.5(IDUA):c.299+1235_299+1261del
|
rs1553915189
|
|
NM_000203.5(IDUA):c.299+1238del
|
rs1553915192
|
|
NM_000203.5(IDUA):c.299+1255del
|
rs1372086275
|
|
NM_000203.5(IDUA):c.299+1279C>T
|
rs387907481
|
|
NM_000203.5(IDUA):c.299+1362_299+1363del
|
rs1265696919
|
|
NM_000203.5(IDUA):c.299+1363dup
|
rs1265696919
|
|
NM_000203.5(IDUA):c.299+1414_299+1415del
|
rs1553915228
|
|
NM_000203.5(IDUA):c.299+1506del
|
rs1553915253
|
|
NM_000203.5(IDUA):c.299+1638del
|
rs768949918
|
|
NM_000203.5(IDUA):c.299+3410del
|
rs756881822
|
|
NM_000203.5(IDUA):c.299+3420del
|
rs1553915711
|
|
NM_000203.5(IDUA):c.299+3446A>T
|
rs1553915726
|
|
NM_000203.5(IDUA):c.299+3455G>T
|
rs752252231
|
|
NM_000203.5(IDUA):c.299+3602del
|
rs1553915784
|
|
NM_000203.5(IDUA):c.299+3617del
|
rs1553915793
|
|
NM_000203.5(IDUA):c.300-1G>A
|
rs1553916890
|
|
NM_000203.5(IDUA):c.300-3C>G
|
rs1226056948
|
|
NM_000203.5(IDUA):c.300-4092_300-2318del
|
|
|
NM_000203.5(IDUA):c.314G>A (p.Arg105Gln)
|
rs3755955
|
|
NM_000203.5(IDUA):c.326_331del (p.Tyr109_Asn110del)
|
|
|
NM_000203.5(IDUA):c.34_45dup (p.Ala15_Ser16insAlaLeuLeuAla)
|
rs1553914754
|
|
NM_000203.5(IDUA):c.362T>C (p.Leu121Pro)
|
rs2153021634
|
|
NM_000203.5(IDUA):c.373C>T (p.Gln125Ter)
|
|
|
NM_000203.5(IDUA):c.385+1G>C
|
rs780615798
|
|
NM_000203.5(IDUA):c.390del (p.Phe130fs)
|
rs1560545883
|
|
NM_000203.5(IDUA):c.398_403del (p.Met133_Gly134del)
|
rs774605197
|
|
NM_000203.5(IDUA):c.399G>C (p.Met133Ile)
|
rs558683362
|
|
NM_000203.5(IDUA):c.3G>A (p.Met1Ile)
|
rs1553914740
|
|
NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del)
|
rs398123260
|
|
NM_000203.5(IDUA):c.485G>A (p.Arg162Lys)
|
rs1553916949
|
|
NM_000203.5(IDUA):c.488dup (p.Tyr163Ter)
|
rs1553916950
|
|
NM_000203.5(IDUA):c.493+1G>A
|
rs1553916957
|
|
NM_000203.5(IDUA):c.494-1G>A
|
rs794727701
|
|
NM_000203.5(IDUA):c.523T>C (p.Trp175Arg)
|
rs875989946
|
|
NM_000203.5(IDUA):c.525G>A (p.Trp175Ter)
|
rs776305028
|
|
NM_000203.5(IDUA):c.530T>G (p.Phe177Cys)
|
|
|
NM_000203.5(IDUA):c.536C>G (p.Thr179Arg)
|
rs776098539
|
|
NM_000203.5(IDUA):c.542dup (p.Asn181fs)
|
rs1553917044
|
|
NM_000203.5(IDUA):c.548C>G (p.Pro183Arg)
|
rs1238128027
|
|
NM_000203.5(IDUA):c.589+1G>T
|
rs1293215555
|
|
NM_000203.5(IDUA):c.589G>A (p.Gly197Ser)
|
rs2153021926
|
|
NM_000203.5(IDUA):c.590-45G>C
|
rs6829789
|
|
NM_000203.5(IDUA):c.590-7G>A
|
rs762411583
|
|
NM_000203.5(IDUA):c.590-8C>T
|
rs6848974
|
|
NM_000203.5(IDUA):c.590G>A (p.Gly197Asp)
|
rs770087890
|
|
NM_000203.5(IDUA):c.601TAC[3] (p.Tyr202dup)
|
rs1553917091
|
|
NM_000203.5(IDUA):c.606C>A (p.Tyr202Ter)
|
rs1033313360
|
|
NM_000203.5(IDUA):c.60_61delinsA (p.Pro22fs)
|
rs1553914762
|
|
NM_000203.5(IDUA):c.612_615dup (p.Ser206fs)
|
rs875989947
|
|
NM_000203.5(IDUA):c.613_617dup (p.Glu207fs)
|
rs786200915
|
|
NM_000203.5(IDUA):c.624_628dup (p.Arg210fs)
|
|
|
NM_000203.5(IDUA):c.637_645dup (p.Ser213_Ala215dup)
|
rs760582777
|
|
NM_000203.5(IDUA):c.640_642dup (p.Pro214dup)
|
rs764105238
|
|
NM_000203.5(IDUA):c.64C>T (p.Pro22Ser)
|
rs1001972534
|
|
NM_000203.5(IDUA):c.69_77del (p.Ala24_Ala26del)
|
rs1553914780
|
|
NM_000203.5(IDUA):c.718C>A (p.His240Asn)
|
rs1374359136
|
|
NM_000203.5(IDUA):c.739TTC[1] (p.Phe248del)
|
rs764800004
|
|
NM_000203.5(IDUA):c.784del (p.His262fs)
|
rs757928590
|
|
NM_000203.5(IDUA):c.792G>A (p.Lys264=)
|
|
|
NM_000203.5(IDUA):c.820G>T (p.Glu274Ter)
|
rs1553917192
|
|
NM_000203.5(IDUA):c.860T>G (p.Phe287Cys)
|
rs748239393
|
|
NM_000203.5(IDUA):c.876del (p.Asp292fs)
|
rs1553917209
|
|
NM_000203.5(IDUA):c.878_889dup (p.Thr293_Tyr296dup)
|
rs779762183
|
|
NM_000203.5(IDUA):c.886_894dup (p.Tyr296_Asp298dup)
|
rs1553917216
|
|
NM_000203.5(IDUA):c.895G>T (p.Glu299Ter)
|
rs1715120049
|
|
NM_000203.5(IDUA):c.898G>A (p.Ala300Thr)
|
rs121965030
|
|
NM_000203.5(IDUA):c.928C>T (p.Gln310Ter)
|
rs121965023
|
|
NM_000203.5(IDUA):c.956C>A (p.Ala319Glu)
|
rs781534097
|
|
NM_000203.5(IDUA):c.973-45G>C
|
rs6831021
|
|
NM_000203.5(IDUA):c.975_980del (p.Ile326_Ala327del)
|
rs1553917253
|
|
NM_000257.4(MYH7):c.1157A>G (p.Tyr386Cys)
|
rs727503269
|
|
NM_000257.4(MYH7):c.2302G>A (p.Gly768Arg)
|
rs727503260
|
|
NM_000257.4(MYH7):c.2513C>T (p.Pro838Leu)
|
rs397516153
|
|
NM_000257.4(MYH7):c.298G>A (p.Ala100Thr)
|
rs730880154
|
|
NM_000258.3(MYL3):c.466G>C (p.Val156Leu)
|
rs199474707
|
|
NM_000363.5(TNNI3):c.-133G>T
|
rs886054636
|
|
NM_000363.5(TNNI3):c.-98C>A
|
rs12973773
|
|
NM_000363.5(TNNI3):c.104C>A (p.Ala35Asp)
|
rs1190447904
|
|
NM_000363.5(TNNI3):c.104C>T (p.Ala35Val)
|
rs1190447904
|
|
NM_000363.5(TNNI3):c.109-15A>G
|
rs779144176
|
|
NM_000363.5(TNNI3):c.114dup (p.Ser39fs)
|
rs772607683
|
|
NM_000363.5(TNNI3):c.12-7del
|
rs370714315
|
|
NM_000363.5(TNNI3):c.130T>G (p.Ser44Ala)
|
rs2147285302
|
|
NM_000363.5(TNNI3):c.157C>T (p.Leu53=)
|
rs763981651
|
|
NM_000363.5(TNNI3):c.220C>T (p.Arg74Cys)
|
rs375795196
|
|
NM_000363.5(TNNI3):c.221G>C (p.Arg74Pro)
|
rs886039022
|
|
NM_000363.5(TNNI3):c.356C>T (p.Thr119Ile)
|
rs184709702
|
|
NM_000363.5(TNNI3):c.379G>T (p.Asp127Tyr)
|
rs1114167340
|
|
NM_000363.5(TNNI3):c.431T>A (p.Leu144Gln)
|
rs121917760
|
|
NM_000363.5(TNNI3):c.466C>G (p.Gln156Glu)
|
rs2085712011
|
|
NM_000363.5(TNNI3):c.508C>G (p.Arg170Gly)
|
rs727503504
|
|
NM_000363.5(TNNI3):c.508C>T (p.Arg170Trp)
|
rs727503504
|
|
NM_000363.5(TNNI3):c.509G>A (p.Arg170Gln)
|
rs727503503
|
|
NM_000363.5(TNNI3):c.511G>A (p.Ala171Thr)
|
rs121917761
|
|
NM_000363.5(TNNI3):c.522G>C (p.Lys174Asn)
|
rs730880231
|
|
NM_000363.5(TNNI3):c.532A>G (p.Lys178Glu)
|
rs104894730
|
|
NM_000363.5(TNNI3):c.569A>G (p.Asp190Gly)
|
rs104894728
|
|
NM_000363.5(TNNI3):c.574C>T (p.Arg192Cys)
|
rs727503499
|
|
NM_000363.5(TNNI3):c.575G>A (p.Arg192His)
|
rs104894729
|
|
NM_000363.5(TNNI3):c.587A>G (p.Asp196Gly)
|
rs2147281695
|
|
NM_000363.5(TNNI3):c.611G>A (p.Arg204His)
|
rs727504275
|
|
NM_000363.5(TNNI3):c.624dup (p.Glu209Ter)
|
rs1599907512
|
|
NM_000363.5(TNNI3):c.627G>C (p.Glu209Asp)
|
rs1555862947
|
|
NM_000371.3(TTR):c.-102G>T
|
rs967658213
|
|
NM_000371.4(TTR):c.-743A>T
|
rs3794885
|
|
NM_000371.4(TTR):c.108T>A (p.Val36=)
|
|
|
NM_000371.4(TTR):c.110T>C (p.Leu37Pro)
|
|
|
NM_000371.4(TTR):c.112G>A (p.Asp38Asn)
|
rs1567945632
|
|
NM_000371.4(TTR):c.112G>T (p.Asp38Tyr)
|
|
|
NM_000371.4(TTR):c.113A>G (p.Asp38Gly)
|
rs121918098
|
|
NM_000371.4(TTR):c.114T>A (p.Asp38Glu)
|
rs779619795
|
|
NM_000371.4(TTR):c.114T>C (p.Asp38=)
|
rs779619795
|
|
NM_000371.4(TTR):c.116C>A (p.Ala39Asp)
|
rs11541795
|
|
NM_000371.4(TTR):c.116_117insAGTCCTCGGTCAA (p.Arg41fs)
|
|
|
NM_000371.4(TTR):c.117T>A (p.Ala39=)
|
|
|
NM_000371.4(TTR):c.119T>C (p.Val40Ala)
|
|
|
NM_000371.4(TTR):c.11A>T (p.His4Leu)
|
rs1157253322
|
|
NM_000371.4(TTR):c.11_13del (p.His4del)
|
rs747545126
|
|
NM_000371.4(TTR):c.11_13dup (p.His4dup)
|
rs747545126
|
|
NM_000371.4(TTR):c.120C>T (p.Val40=)
|
|
|
NM_000371.4(TTR):c.121C>T (p.Arg41Ter)
|
rs1004021945
|
|
NM_000371.4(TTR):c.122G>A (p.Arg41Gln)
|
rs879254269
|
|
NM_000371.4(TTR):c.124G>A (p.Gly42Ser)
|
rs2144406621
|
|
NM_000371.4(TTR):c.128G>A (p.Ser43Asn)
|
rs1598844112
|
|
NM_000371.4(TTR):c.12T>A (p.His4Gln)
|
rs2144405297
|
|
NM_000371.4(TTR):c.131C>T (p.Pro44Leu)
|
rs1415606768
|
|
NM_000371.4(TTR):c.133G>A (p.Ala45Thr)
|
rs104894664
|
|
NM_000371.4(TTR):c.13C>G (p.Arg5Gly)
|
rs144792001
|
|
NM_000371.4(TTR):c.141T>C (p.Asn47=)
|
rs1252826226
|
|
NM_000371.4(TTR):c.147C>A (p.Ala49=)
|
|
|
NM_000371.4(TTR):c.148G>C (p.Val50Leu)
|
rs28933979
|
|
NM_000371.4(TTR):c.148G>T (p.Val50Leu)
|
|
|
NM_000371.4(TTR):c.149T>C (p.Val50Ala)
|
rs79977247
|
|
NM_000371.4(TTR):c.149T>G (p.Val50Gly)
|
rs79977247
|
|
NM_000371.4(TTR):c.151C>G (p.His51Asp)
|
|
|
NM_000371.4(TTR):c.151C>T (p.His51Tyr)
|
|
|
NM_000371.4(TTR):c.155T>C (p.Val52Ala)
|
rs2073493951
|
|
NM_000371.4(TTR):c.156G>A (p.Val52=)
|
rs2144406775
|
|
NM_000371.4(TTR):c.157T>A (p.Phe53Ile)
|
rs121918068
|
|
NM_000371.4(TTR):c.157T>C (p.Phe53Leu)
|
rs121918068
|
|
NM_000371.4(TTR):c.160A>C (p.Arg54=)
|
|
|
NM_000371.4(TTR):c.160A>G (p.Arg54Gly)
|
rs1598844184
|
|
NM_000371.4(TTR):c.161G>C (p.Arg54Thr)
|
rs1598844187
|
|
NM_000371.4(TTR):c.163A>G (p.Lys55Glu)
|
|
|
NM_000371.4(TTR):c.165G>C (p.Lys55Asn)
|
|
|
NM_000371.4(TTR):c.165G>T (p.Lys55Asn)
|
rs1567945684
|
|
NM_000371.4(TTR):c.166G>C (p.Ala56Pro)
|
rs121918077
|
|
NM_000371.4(TTR):c.167C>A (p.Ala56Asp)
|
rs2073494094
|
|
NM_000371.4(TTR):c.169G>A (p.Ala57Thr)
|
rs1380447419
|
|
NM_000371.4(TTR):c.171TGA[1] (p.Asp59del)
|
rs1555631238
|
|
NM_000371.4(TTR):c.172G>C (p.Asp58His)
|
rs2073494217
|
|
NM_000371.4(TTR):c.173A>C (p.Asp58Ala)
|
rs1598844213
|
|
NM_000371.4(TTR):c.173A>T (p.Asp58Val)
|
rs1598844213
|
|
NM_000371.4(TTR):c.174T>C (p.Asp58=)
|
|
|
NM_000371.4(TTR):c.179C>A (p.Thr60Asn)
|
rs113625622
|
|
NM_000371.4(TTR):c.180C>T (p.Thr60=)
|
|
|
NM_000371.4(TTR):c.182G>T (p.Trp61Leu)
|
rs1567945702
|
|
NM_000371.4(TTR):c.184G>A (p.Glu62Lys)
|
|
|
NM_000371.4(TTR):c.185A>C (p.Glu62Ala)
|
rs11541796
|
|
NM_000371.4(TTR):c.185A>G (p.Glu62Gly)
|
rs11541796
|
|
NM_000371.4(TTR):c.186G>C (p.Glu62Asp)
|
rs1340627860
|
|
NM_000371.4(TTR):c.186G>T (p.Glu62Asp)
|
rs1340627860
|
|
NM_000371.4(TTR):c.191T>C (p.Phe64Ser)
|
rs104894665
|
|
NM_000371.4(TTR):c.193G>A (p.Ala65Thr)
|
rs121918078
|
|
NM_000371.4(TTR):c.194C>A (p.Ala65Asp)
|
rs730881169
|
|
NM_000371.4(TTR):c.194C>T (p.Ala65Val)
|
rs730881169
|
|
NM_000371.4(TTR):c.195C>T (p.Ala65=)
|
rs571695233
|
|
NM_000371.4(TTR):c.198T>G (p.Ser66=)
|
|
|
NM_000371.4(TTR):c.199G>A (p.Gly67Arg)
|
rs387906523
|
|
NM_000371.4(TTR):c.199G>C (p.Gly67Arg)
|
rs387906523
|
|
NM_000371.4(TTR):c.200+12A>G
|
|
|
NM_000371.4(TTR):c.200+14G>T
|
rs2144406929
|
|
NM_000371.4(TTR):c.200+1G>A
|
rs1567945731
|
|
NM_000371.4(TTR):c.200+2T>C
|
rs1567945737
|
|
NM_000371.4(TTR):c.200+7del
|
|
|
NM_000371.4(TTR):c.200+8G>T
|
rs761675505
|
|
NM_000371.4(TTR):c.200G>A (p.Gly67Glu)
|
rs121918090
|
|
NM_000371.4(TTR):c.200G>C (p.Gly67Ala)
|
rs121918090
|
|
NM_000371.4(TTR):c.200G>T (p.Gly67Val)
|
rs121918090
|
|
NM_000371.4(TTR):c.201-10C>A
|
|
|
NM_000371.4(TTR):c.201-10C>T
|
rs1380934184
|
|
NM_000371.4(TTR):c.201-1G>A
|
rs2144409397
|
|
NM_000371.4(TTR):c.201-4A>G
|
|
|
NM_000371.4(TTR):c.201-7C>T
|
|
|
NM_000371.4(TTR):c.201-9A>C
|
|
|
NM_000371.4(TTR):c.203A>C (p.Lys68Thr)
|
rs2073510120
|
|
NM_000371.4(TTR):c.205A>G (p.Thr69Ala)
|
rs121918081
|
|
NM_000371.4(TTR):c.206C>G (p.Thr69Ser)
|
rs1555631387
|
|
NM_000371.4(TTR):c.206C>T (p.Thr69Ile)
|
rs1555631387
|
|
NM_000371.4(TTR):c.208A>C (p.Ser70Arg)
|
rs386134269
|
|
NM_000371.4(TTR):c.208A>G (p.Ser70Gly)
|
|
|
NM_000371.4(TTR):c.209G>T (p.Ser70Ile)
|
rs121918080
|
|
NM_000371.4(TTR):c.210T>A (p.Ser70Arg)
|
rs121918076
|
|
NM_000371.4(TTR):c.210T>G (p.Ser70Arg)
|
rs121918076
|
|
NM_000371.4(TTR):c.211G>A (p.Glu71Lys)
|
rs933476040
|
|
NM_000371.4(TTR):c.212A>C (p.Glu71Ala)
|
|
|
NM_000371.4(TTR):c.212_217dup (p.Glu71_Ser72dup)
|
rs1555631390
|
|
NM_000371.4(TTR):c.214T>C (p.Ser72Pro)
|
rs2144409444
|
|
NM_000371.4(TTR):c.217G>A (p.Gly73Arg)
|
rs2144409459
|
|
NM_000371.4(TTR):c.218G>A (p.Gly73Glu)
|
rs121918097
|
|
NM_000371.4(TTR):c.21C>T (p.Leu7=)
|
rs2144405313
|
|
NM_000371.4(TTR):c.220G>A (p.Glu74Lys)
|
rs1555631393
|
|
NM_000371.4(TTR):c.220G>C (p.Glu74Gln)
|
rs1555631393
|
|
NM_000371.4(TTR):c.220_221delinsCT (p.Glu74Leu)
|
|
|
NM_000371.4(TTR):c.220_221inv (p.Glu74Ser)
|
|
|
NM_000371.4(TTR):c.221A>C (p.Glu74Ala)
|
rs1598845097
|
|
NM_000371.4(TTR):c.221A>G (p.Glu74Gly)
|
rs1598845097
|
|
NM_000371.4(TTR):c.223C>A (p.Leu75Met)
|
rs2073510448
|
|
NM_000371.4(TTR):c.223C>T (p.Leu75=)
|
rs2073510448
|
|
NM_000371.4(TTR):c.224T>C (p.Leu75Pro)
|
rs121918079
|
|
NM_000371.4(TTR):c.224T>G (p.Leu75Arg)
|
rs121918079
|
|
NM_000371.4(TTR):c.229G>A (p.Gly77Arg)
|
rs1598845111
|
|
NM_000371.4(TTR):c.232C>G (p.Leu78Val)
|
|
|
NM_000371.4(TTR):c.233T>A (p.Leu78His)
|
rs121918069
|
|
NM_000371.4(TTR):c.233T>G (p.Leu78Arg)
|
rs121918069
|
|
NM_000371.4(TTR):c.235A>G (p.Thr79Ala)
|
|
|
NM_000371.4(TTR):c.236C>A (p.Thr79Lys)
|
rs730881163
|
|
NM_000371.4(TTR):c.239C>G (p.Thr80Ser)
|
rs1254341785
|
|
NM_000371.4(TTR):c.241G>A (p.Glu81Lys)
|
rs121918086
|
|
NM_000371.4(TTR):c.242A>G (p.Glu81Gly)
|
rs1567946170
|
|
NM_000371.4(TTR):c.244G>A (p.Glu82Lys)
|
rs1555631402
|
|
NM_000371.4(TTR):c.249A>G (p.Glu83=)
|
|
|
NM_000371.4(TTR):c.250T>C (p.Phe84Leu)
|
rs121918091
|
|
NM_000371.4(TTR):c.251T>A (p.Phe84Tyr)
|
|
|
NM_000371.4(TTR):c.251T>C (p.Phe84Ser)
|
rs121918099
|
|
NM_000371.4(TTR):c.252T>G (p.Phe84Leu)
|
rs2073510805
|
|
NM_000371.4(TTR):c.258A>T (p.Glu86Asp)
|
rs2073510816
|
|
NM_000371.4(TTR):c.259G>C (p.Gly87Arg)
|
rs11541799
|
|
NM_000371.4(TTR):c.265T>C (p.Tyr89His)
|
rs121918100
|
|
NM_000371.4(TTR):c.268A>C (p.Lys90Gln)
|
|
|
NM_000371.4(TTR):c.268A>G (p.Lys90Glu)
|
|
|
NM_000371.4(TTR):c.270A>C (p.Lys90Asn)
|
rs267607160
|
|
NM_000371.4(TTR):c.270dup (p.Val91fs)
|
|
|
NM_000371.4(TTR):c.272T>C (p.Val91Ala)
|
rs121918084
|
|
NM_000371.4(TTR):c.277A>G (p.Ile93Val)
|
rs1598845164
|
|
NM_000371.4(TTR):c.290C>A (p.Ser97Tyr)
|
rs121918071
|
|
NM_000371.4(TTR):c.296G>C (p.Trp99Ser)
|
rs730881171
|
|
NM_000371.4(TTR):c.300G>A (p.Lys100=)
|
rs2144409644
|
|
NM_000371.4(TTR):c.302C>T (p.Ala101Val)
|
rs1555631417
|
|
NM_000371.4(TTR):c.304C>T (p.Leu102Phe)
|
rs1131692003
|
|
NM_000371.4(TTR):c.305T>C (p.Leu102Pro)
|
|
|
NM_000371.4(TTR):c.311T>A (p.Ile104Asn)
|
|
|
NM_000371.4(TTR):c.311T>C (p.Ile104Thr)
|
rs121918072
|
|
NM_000371.4(TTR):c.311T>G (p.Ile104Ser)
|
rs121918072
|
|
NM_000371.4(TTR):c.316C>G (p.Pro106Ala)
|
|
|
NM_000371.4(TTR):c.323A>G (p.His108Arg)
|
rs2073511411
|
|
NM_000371.4(TTR):c.325G>A (p.Glu109Lys)
|
rs121918082
|
|
NM_000371.4(TTR):c.325G>C (p.Glu109Gln)
|
rs121918082
|
|
NM_000371.4(TTR):c.326A>G (p.Glu109Gly)
|
|
|
NM_000371.4(TTR):c.326A>T (p.Glu109Val)
|
rs2073511444
|
|
NM_000371.4(TTR):c.327G>A (p.Glu109=)
|
rs876661395
|
|
NM_000371.4(TTR):c.327G>T (p.Glu109Asp)
|
rs876661395
|
|
NM_000371.4(TTR):c.328C>G (p.His110Asp)
|
rs121918074
|
|
NM_000371.4(TTR):c.333A>G (p.Ala111=)
|
|
|
NM_000371.4(TTR):c.335A>G (p.Glu112Gly)
|
|
|
NM_000371.4(TTR):c.336+10C>G
|
|
|
NM_000371.4(TTR):c.337-12C>T
|
|
|
NM_000371.4(TTR):c.337-14_337-11del
|
rs112263266
|
|
NM_000371.4(TTR):c.337-16C>G
|
|
|
NM_000371.4(TTR):c.337-3T>G
|
|
|
NM_000371.4(TTR):c.337-527_349del
|
rs2073525314
|
|
NM_000371.4(TTR):c.339G>A (p.Val113=)
|
|
|
NM_000371.4(TTR):c.340G>T (p.Val114Leu)
|
rs2073528142
|
|
NM_000371.4(TTR):c.347C>G (p.Thr116Arg)
|
|
|
NM_000371.4(TTR):c.34G>T (p.Ala12Ser)
|
rs1567945391
|
|
NM_000371.4(TTR):c.350C>A (p.Ala117Asp)
|
|
|
NM_000371.4(TTR):c.350C>G (p.Ala117Gly)
|
rs121918087
|
|
NM_000371.4(TTR):c.35C>A (p.Ala12Asp)
|
rs2073488167
|
|
NM_000371.4(TTR):c.35C>T (p.Ala12Val)
|
|
|
NM_000371.4(TTR):c.361G>C (p.Gly121Arg)
|
|
|
NM_000371.4(TTR):c.365C>G (p.Pro122Arg)
|
rs11541793
|
|
NM_000371.4(TTR):c.365C>T (p.Pro122Leu)
|
|
|
NM_000371.4(TTR):c.367C>G (p.Arg123Gly)
|
|
|
NM_000371.4(TTR):c.372C>G (p.Arg124=)
|
rs780119793
|
|
NM_000371.4(TTR):c.373T>C (p.Tyr125His)
|
rs2073528574
|
|
NM_000371.4(TTR):c.377C>A (p.Thr126Asn)
|
|
|
NM_000371.4(TTR):c.379A>G (p.Ile127Val)
|
rs121918089
|
|
NM_000371.4(TTR):c.37G>A (p.Gly13Arg)
|
rs767889884
|
|
NM_000371.4(TTR):c.381T>C (p.Ile127=)
|
|
|
NM_000371.4(TTR):c.381T>G (p.Ile127Met)
|
rs751430411
|
|
NM_000371.4(TTR):c.382G>A (p.Ala128Thr)
|
rs2073528679
|
|
NM_000371.4(TTR):c.383C>T (p.Ala128Val)
|
|
|
NM_000371.4(TTR):c.385G>T (p.Ala129Ser)
|
rs267607159
|
|
NM_000371.4(TTR):c.387C>A (p.Ala129=)
|
|
|
NM_000371.4(TTR):c.390G>A (p.Leu130=)
|
|
|
NM_000371.4(TTR):c.390G>C (p.Leu130=)
|
|
|
NM_000371.4(TTR):c.391C>A (p.Leu131Met)
|
rs121918073
|
|
NM_000371.4(TTR):c.391C>T (p.Leu131=)
|
rs121918073
|
|
NM_000371.4(TTR):c.396C>T (p.Ser132=)
|
rs2144414307
|
|
NM_000371.4(TTR):c.401A>G (p.Tyr134Cys)
|
rs121918075
|
|
NM_000371.4(TTR):c.407A>C (p.Tyr136Ser)
|
rs730881167
|
|
NM_000371.4(TTR):c.408T>G (p.Tyr136Ter)
|
|
|
NM_000371.4(TTR):c.418G>T (p.Ala140Ser)
|
rs876658108
|
|
NM_000371.4(TTR):c.421GTC[1] (p.Val142del)
|
rs121918096
|
|
NM_000371.4(TTR):c.423C>T (p.Val141=)
|
rs557320637
|
|
NM_000371.4(TTR):c.425T>C (p.Val142Ala)
|
rs2144414426
|
|
NM_000371.4(TTR):c.427A>G (p.Thr143Ala)
|
|
|
NM_000371.4(TTR):c.432_437del (p.Asn144_Pro145del)
|
rs886053745
|
|
NM_000371.4(TTR):c.433C>T (p.Pro145Ser)
|
|
|
NM_000371.4(TTR):c.434C>A (p.Pro145His)
|
|
|
NM_000371.4(TTR):c.45A>G (p.Val15=)
|
|
|
NM_000371.4(TTR):c.54T>C (p.Ser18=)
|
|
|
NM_000371.4(TTR):c.57G>A (p.Glu19=)
|
|
|
NM_000371.4(TTR):c.62G>C (p.Gly21Ala)
|
rs1469623969
|
|
NM_000371.4(TTR):c.65del (p.Pro22fs)
|
|
|
NM_000371.4(TTR):c.66T>C (p.Pro22=)
|
rs2144405395
|
|
NM_000371.4(TTR):c.69+10T>C
|
rs1179187406
|
|
NM_000371.4(TTR):c.69+13G>C
|
rs2073488528
|
|
NM_000371.4(TTR):c.69+1G>A
|
rs1598843674
|
|
NM_000371.4(TTR):c.69+4_69+7del
|
|
|
NM_000371.4(TTR):c.69+6T>C
|
|
|
NM_000371.4(TTR):c.69+7G>A
|
rs1453023289
|
|
NM_000371.4(TTR):c.69G>C (p.Thr23=)
|
rs752579437
|
|
NM_000371.4(TTR):c.6T>G (p.Ala2=)
|
|
|
NM_000371.4(TTR):c.70-19G>A
|
rs548935944
|
|
NM_000371.4(TTR):c.70-19G>T
|
rs548935944
|
|
NM_000371.4(TTR):c.70-20del
|
|
|
NM_000371.4(TTR):c.70-4C>T
|
|
|
NM_000371.4(TTR):c.70-5C>T
|
rs757103675
|
|
NM_000371.4(TTR):c.70-7C>T
|
rs587780990
|
|
NM_000371.4(TTR):c.70-9T>A
|
|
|
NM_000371.4(TTR):c.71G>A (p.Gly24Asp)
|
|
|
NM_000371.4(TTR):c.74C>T (p.Thr25Ile)
|
rs2073492897
|
|
NM_000371.4(TTR):c.83C>T (p.Ser28Phe)
|
rs1313375879
|
|
NM_000371.4(TTR):c.85A>G (p.Lys29Glu)
|
rs1323375123
|
|
NM_000371.4(TTR):c.89G>A (p.Cys30Tyr)
|
rs2144406508
|
|
NM_000371.4(TTR):c.91C>T (p.Pro31Ser)
|
rs2144406521
|
|
NM_000371.4(TTR):c.94C>G (p.Leu32Val)
|
rs2144406525
|
|
NM_000371.4(TTR):c.95T>C (p.Leu32Pro)
|
rs121918094
|
|
NM_000371.4(TTR):c.97_99dup (p.Met33dup)
|
rs768348156
|
|
NM_000371.4(TTR):c.98T>A (p.Met33Lys)
|
|
|
NM_000371.4(TTR):c.9T>C (p.Ser3=)
|
rs1598843600
|
|
NM_000371.4(TTR):c.[239C>T];[424G>A]
|
|
|
NM_000465.4(BARD1):c.1946_1966del (p.Glu649_Glu655del)
|
rs1574706907
|
|
NM_000546.6(TP53):c.216dup (p.Val73fs)
|
rs730882018
|
|
NM_000546.6(TP53):c.394A>C (p.Lys132Gln)
|
rs747342068
|
|
NM_000546.6(TP53):c.394A>G (p.Lys132Glu)
|
rs747342068
|
|
NM_000546.6(TP53):c.395A>C (p.Lys132Thr)
|
rs1057519996
|
|
NM_000546.6(TP53):c.395A>T (p.Lys132Met)
|
rs1057519996
|
|
NM_000546.6(TP53):c.396G>C (p.Lys132Asn)
|
rs866775781
|
|
NM_000546.6(TP53):c.421T>A (p.Cys141Ser)
|
rs1057519978
|
|
NM_000546.6(TP53):c.421T>C (p.Cys141Arg)
|
rs1057519978
|
|
NM_000546.6(TP53):c.421T>G (p.Cys141Gly)
|
rs1057519978
|
|
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr)
|
rs587781288
|
|
NM_000546.6(TP53):c.422G>T (p.Cys141Phe)
|
rs587781288
|
|
NM_000546.6(TP53):c.423C>G (p.Cys141Trp)
|
rs1057519977
|
|
NM_000546.6(TP53):c.451C>A (p.Pro151Thr)
|
rs28934874
|
|
NM_000546.6(TP53):c.451C>G (p.Pro151Ala)
|
rs28934874
|
|
NM_000546.6(TP53):c.451C>T (p.Pro151Ser)
|
rs28934874
|
|
NM_000546.6(TP53):c.452C>A (p.Pro151His)
|
rs1057520000
|
|
NM_000546.6(TP53):c.452C>G (p.Pro151Arg)
|
rs1057520000
|
|
NM_000546.6(TP53):c.583A>T (p.Ile195Phe)
|
rs942158624
|
|
NM_000546.6(TP53):c.584T>A (p.Ile195Asn)
|
rs760043106
|
|
NM_000546.6(TP53):c.584T>C (p.Ile195Thr)
|
rs760043106
|
|
NM_000546.6(TP53):c.584T>G (p.Ile195Ser)
|
rs760043106
|
|
NM_000546.6(TP53):c.585C>G (p.Ile195Met)
|
rs1057519994
|
|
NM_000546.6(TP53):c.587G>C (p.Arg196Pro)
|
rs483352697
|
|
NM_000546.6(TP53):c.613T>A (p.Tyr205Asn)
|
rs1057520008
|
|
NM_000546.6(TP53):c.613T>C (p.Tyr205His)
|
rs1057520008
|
|
NM_000546.6(TP53):c.613T>G (p.Tyr205Asp)
|
rs1057520008
|
|
NM_000546.6(TP53):c.614A>C (p.Tyr205Ser)
|
rs1057520007
|
|
NM_000546.6(TP53):c.614A>G (p.Tyr205Cys)
|
rs1057520007
|
|
NM_000546.6(TP53):c.614A>T (p.Tyr205Phe)
|
rs1057520007
|
|
NM_000546.6(TP53):c.712T>C (p.Cys238Arg)
|
rs1057519981
|
|
NM_000546.6(TP53):c.712T>G (p.Cys238Gly)
|
rs1057519981
|
|
NM_000546.6(TP53):c.713G>C (p.Cys238Ser)
|
rs730882005
|
|
NM_000546.6(TP53):c.713G>T (p.Cys238Phe)
|
rs730882005
|
|
NM_000546.6(TP53):c.742C>G (p.Arg248Gly)
|
rs121912651
|
|
NM_000546.6(TP53):c.742C>T (p.Arg248Trp)
|
rs121912651
|
|
NM_000546.6(TP53):c.743G>C (p.Arg248Pro)
|
rs11540652
|
|
NM_000546.6(TP53):c.743G>T (p.Arg248Leu)
|
rs11540652
|
|
NM_000546.6(TP53):c.814G>A (p.Val272Met)
|
rs121912657
|
|
NM_000546.6(TP53):c.814G>T (p.Val272Leu)
|
rs121912657
|
|
NM_000546.6(TP53):c.815T>A (p.Val272Glu)
|
rs876660333
|
|
NM_000546.6(TP53):c.815T>G (p.Val272Gly)
|
rs876660333
|
|
NM_000546.6(TP53):c.817C>A (p.Arg273Ser)
|
rs121913343
|
|
NM_000546.6(TP53):c.818G>A (p.Arg273His)
|
rs28934576
|
|
NM_000546.6(TP53):c.818G>C (p.Arg273Pro)
|
rs28934576
|
|
NM_000546.6(TP53):c.818G>T (p.Arg273Leu)
|
rs28934576
|
|
NM_000546.6(TP53):c.823T>C (p.Cys275Arg)
|
rs1057519983
|
|
NM_000546.6(TP53):c.824G>C (p.Cys275Ser)
|
rs863224451
|
|
NM_000546.6(TP53):c.824G>T (p.Cys275Phe)
|
rs863224451
|
|
NM_000546.6(TP53):c.832C>A (p.Pro278Thr)
|
rs17849781
|
|
NM_000546.6(TP53):c.832C>G (p.Pro278Ala)
|
rs17849781
|
|
NM_000546.6(TP53):c.832C>T (p.Pro278Ser)
|
rs17849781
|
|
NM_000546.6(TP53):c.833C>A (p.Pro278His)
|
rs876659802
|
|
NM_000546.6(TP53):c.833C>G (p.Pro278Arg)
|
rs876659802
|
|
NM_000546.6(TP53):c.833C>T (p.Pro278Leu)
|
rs876659802
|
|
NM_000546.6(TP53):c.841G>C (p.Asp281His)
|
rs764146326
|
|
NM_000546.6(TP53):c.841G>T (p.Asp281Tyr)
|
rs764146326
|
|
NM_000546.6(TP53):c.842A>C (p.Asp281Ala)
|
rs587781525
|
|
NM_000546.6(TP53):c.842A>G (p.Asp281Gly)
|
rs587781525
|
|
NM_000546.6(TP53):c.842A>T (p.Asp281Val)
|
rs587781525
|
|
NM_000546.6(TP53):c.843C>G (p.Asp281Glu)
|
rs1057519984
|
|
NM_001005242.3(PKP2):c.964G>T (p.Gly322Cys)
|
rs200069860
|
|
NM_001005741.2(GBA1):c.[1448T>C;1483G>C;1497G>C]
|
|
|
NM_001005741.2(GBA1):c.[535G>C;c.1093G>A]
|
|
|
NM_001033910.3(TRAF5):c.1254_1257del (p.Glu419fs)
|
rs756183569
|
|
NM_001042492.3(NF1):c.5476C>A (p.His1826Asn)
|
rs1135402871
|
|
NM_001079668.3(NKX2-1):c.436G>A (p.Ala146Thr)
|
rs1594406727
|
|
NM_001100.4(ACTA1):c.-66_-65delinsTC
|
rs386640096
|
|
NM_001100.4(ACTA1):c.108C>T (p.Ile36=)
|
rs143948837
|
|
NM_001100.4(ACTA1):c.1113C>G (p.Ile371Met)
|
rs886046075
|
|
NM_001100.4(ACTA1):c.1128C>T (p.Cys376=)
|
rs1659932688
|
|
NM_001100.4(ACTA1):c.129+14T>C
|
rs886046076
|
|
NM_001100.4(ACTA1):c.453C>G (p.Thr151=)
|
rs76030344
|
|
NM_001100.4(ACTA1):c.480C>A (p.Gly160=)
|
rs1571893385
|
|
NM_001100.4(ACTA1):c.809-13_809-12dup
|
rs201427429
|
|
NM_001100.4(ACTA1):c.809-13dup
|
rs201427429
|
|
NM_001100.4(ACTA1):c.809-14G>C
|
rs6673359
|
|
NM_001100.4(ACTA1):c.81C>T (p.Asp27=)
|
rs1553255533
|
|
NM_001100.4(ACTA1):c.966G>A (p.Leu322=)
|
rs765996798
|
|
NM_001127208.3(TET2):c.1438C>T (p.Pro480Ser)
|
rs1578673280
|
|
NM_001130145.3(YAP1):c.488C>G (p.Ser163Cys)
|
rs1591100766
|
|
NM_001136139.4(TCF3):c.1693G>A (p.Ala565Thr)
|
rs1599413207
|
|
NM_001143676.3(SGK1):c.1379A>G (p.Asn460Ser)
|
rs1171390403
|
|
NM_001151.4(SLC25A4):c.742G>A (p.Asp248Asn)
|
rs755597294
|
|
NM_001256715.2(DNAAF3):c.1093= (p.Asn365=)
|
rs890872
|
|
NM_001256715.2(DNAAF3):c.990C>T (p.Thr330=)
|
rs371092262
|
|
NM_001267550.2(TTN):c.39709+1G>T
|
rs1576940155
|
|
NM_001267550.2(TTN):c.68329+2_68329+3insTT
|
rs536078303
|
|
NM_001267550.2(TTN):c.71866del (p.Ile23956fs)
|
|
|
NM_001276345.2(TNNT2):c.*37C>G
|
rs149240770
|
|
NM_001276345.2(TNNT2):c.-1C>A
|
rs776936911
|
|
NM_001276345.2(TNNT2):c.-1C>T
|
rs776936911
|
|
NM_001276345.2(TNNT2):c.-22G>C
|
rs886045829
|
|
NM_001276345.2(TNNT2):c.-22G>T
|
rs886045829
|
|
NM_001276345.2(TNNT2):c.-5A>G
|
rs730881093
|
|
NM_001276345.2(TNNT2):c.104A>T (p.Glu35Val)
|
|
|
NM_001276345.2(TNNT2):c.10A>G (p.Ile4Val)
|
rs139705141
|
|
NM_001276345.2(TNNT2):c.112G>A (p.Ala38Thr)
|
|
|
NM_001276345.2(TNNT2):c.114G>T (p.Ala38=)
|
|
|
NM_001276345.2(TNNT2):c.118G>A (p.Glu40Lys)
|
rs2102283637
|
|
NM_001276345.2(TNNT2):c.121G>A (p.Asp41Asn)
|
rs748078123
|
|
NM_001276345.2(TNNT2):c.124G>A (p.Ala42Thr)
|
rs1571649102
|
|
NM_001276345.2(TNNT2):c.124G>T (p.Ala42Ser)
|
|
|
NM_001276345.2(TNNT2):c.131C>T (p.Ala44Val)
|
|
|
NM_001276345.2(TNNT2):c.134A>G (p.Glu45Gly)
|
|
|
NM_001276345.2(TNNT2):c.142A>G (p.Thr48Ala)
|
|
|
NM_001276345.2(TNNT2):c.146A>T (p.Glu49Val)
|
|
|
NM_001276345.2(TNNT2):c.147G>A (p.Glu49=)
|
|
|
NM_001276345.2(TNNT2):c.149A>G (p.Glu50Gly)
|
|
|
NM_001276345.2(TNNT2):c.159del (p.Glu54fs)
|
|
|
NM_001276345.2(TNNT2):c.161A>T (p.Glu54Val)
|
|
|
NM_001276345.2(TNNT2):c.163+12G>T
|
rs45580032
|
|
NM_001276345.2(TNNT2):c.163+17G>A
|
|
|
NM_001276345.2(TNNT2):c.163+2T>C
|
|
|
NM_001276345.2(TNNT2):c.163+5G>A
|
rs727504254
|
|
NM_001276345.2(TNNT2):c.163+8T>C
|
|
|
NM_001276345.2(TNNT2):c.163G>A (p.Glu55Lys)
|
rs730881120
|
|
NM_001276345.2(TNNT2):c.163G>T (p.Glu55Ter)
|
rs730881120
|
|
NM_001276345.2(TNNT2):c.164-14C>A
|
|
|
NM_001276345.2(TNNT2):c.164-15T>C
|
|
|
NM_001276345.2(TNNT2):c.164-50G>A
|
rs3729843
|
|
NM_001276345.2(TNNT2):c.164-5T>C
|
|
|
NM_001276345.2(TNNT2):c.171AGA[2] (p.Glu61del)
|
rs781616719
|
|
NM_001276345.2(TNNT2):c.175G>A (p.Glu59Lys)
|
rs568628521
|
|
NM_001276345.2(TNNT2):c.180G>C (p.Glu60Asp)
|
|
|
NM_001276345.2(TNNT2):c.184G>A (p.Ala62Thr)
|
|
|
NM_001276345.2(TNNT2):c.199+13G>A
|
|
|
NM_001276345.2(TNNT2):c.199+4A>G
|
|
|
NM_001276345.2(TNNT2):c.199+5G>A
|
|
|
NM_001276345.2(TNNT2):c.199+9A>T
|
rs749187235
|
|
NM_001276345.2(TNNT2):c.1A>G (p.Met1Val)
|
rs1228403814
|
|
NM_001276345.2(TNNT2):c.200-11A>T
|
|
|
NM_001276345.2(TNNT2):c.200-15T>G
|
|
|
NM_001276345.2(TNNT2):c.200-16C>G
|
|
|
NM_001276345.2(TNNT2):c.200-1G>A
|
rs2102274124
|
|
NM_001276345.2(TNNT2):c.200-6C>T
|
rs1659750096
|
|
NM_001276345.2(TNNT2):c.200-8T>C
|
|
|
NM_001276345.2(TNNT2):c.207A>G (p.Pro69=)
|
rs531954320
|
|
NM_001276345.2(TNNT2):c.212A>C (p.Glu71Ala)
|
rs2102274024
|
|
NM_001276345.2(TNNT2):c.213G>A (p.Glu71=)
|
|
|
NM_001276345.2(TNNT2):c.216G>A (p.Glu72=)
|
rs2102273980
|
|
NM_001276345.2(TNNT2):c.218C>A (p.Ser73Tyr)
|
|
|
NM_001276345.2(TNNT2):c.224C>A (p.Pro75Gln)
|
|
|
NM_001276345.2(TNNT2):c.225A>G (p.Pro75=)
|
rs2102273890
|
|
NM_001276345.2(TNNT2):c.226A>C (p.Lys76Gln)
|
rs2102273869
|
|
NM_001276345.2(TNNT2):c.228G>A (p.Lys76=)
|
rs727504869
|
|
NM_001276345.2(TNNT2):c.233+10G>A
|
rs543193858
|
|
NM_001276345.2(TNNT2):c.233+3G>A
|
|
|
NM_001276345.2(TNNT2):c.233+9G>A
|
rs1553283445
|
|
NM_001276345.2(TNNT2):c.233+9G>T
|
rs1553283445
|
|
NM_001276345.2(TNNT2):c.234-10T>C
|
rs1342160801
|
|
NM_001276345.2(TNNT2):c.234-13C>A
|
|
|
NM_001276345.2(TNNT2):c.234-13C>T
|
|
|
NM_001276345.2(TNNT2):c.234-2A>G
|
rs1659534628
|
|
NM_001276345.2(TNNT2):c.234-6C>T
|
|
|
NM_001276345.2(TNNT2):c.234-9C>G
|
rs1571631213
|
|
NM_001276345.2(TNNT2):c.234G>A (p.Arg78=)
|
|
|
NM_001276345.2(TNNT2):c.235T>A (p.Ser79Thr)
|
|
|
NM_001276345.2(TNNT2):c.236C>T (p.Ser79Leu)
|
rs761953142
|
|
NM_001276345.2(TNNT2):c.237G>T (p.Ser79=)
|
rs3729845
|
|
NM_001276345.2(TNNT2):c.238T>C (p.Phe80Leu)
|
rs886039053
|
|
NM_001276345.2(TNNT2):c.243G>A (p.Met81Ile)
|
rs2102265521
|
|
NM_001276345.2(TNNT2):c.247A>G (p.Asn83Asp)
|
rs1060500235
|
|
NM_001276345.2(TNNT2):c.248A>C (p.Asn83Thr)
|
|
|
NM_001276345.2(TNNT2):c.251T>G (p.Leu84Trp)
|
|
|
NM_001276345.2(TNNT2):c.255G>T (p.Val85=)
|
rs780115529
|
|
NM_001276345.2(TNNT2):c.259C>A (p.Pro87Thr)
|
rs730881096
|
|
NM_001276345.2(TNNT2):c.262A>G (p.Lys88Glu)
|
rs1659525886
|
|
NM_001276345.2(TNNT2):c.264G>C (p.Lys88Asn)
|
|
|
NM_001276345.2(TNNT2):c.266T>A (p.Ile89Asn)
|
rs121964855
|
|
NM_001276345.2(TNNT2):c.268C>A (p.Pro90Thr)
|
rs397516451
|
|
NM_001276345.2(TNNT2):c.268C>T (p.Pro90Ser)
|
rs397516451
|
|
NM_001276345.2(TNNT2):c.270C>G (p.Pro90=)
|
rs140245123
|
|
NM_001276345.2(TNNT2):c.270C>T (p.Pro90=)
|
rs140245123
|
|
NM_001276345.2(TNNT2):c.271G>A (p.Asp91Asn)
|
rs1571630555
|
|
NM_001276345.2(TNNT2):c.272_274del (p.Asp91del)
|
|
|
NM_001276345.2(TNNT2):c.274G>A (p.Gly92Arg)
|
rs727504255
|
|
NM_001276345.2(TNNT2):c.279G>A (p.Glu93=)
|
|
|
NM_001276345.2(TNNT2):c.281G>C (p.Arg94Thr)
|
rs397516452
|
|
NM_001276345.2(TNNT2):c.281G>T (p.Arg94Ile)
|
|
|
NM_001276345.2(TNNT2):c.282A>T (p.Arg94Ser)
|
rs397516453
|
|
NM_001276345.2(TNNT2):c.282_283del (p.Arg94fs)
|
rs1259701355
|
|
NM_001276345.2(TNNT2):c.282_285dup (p.Asp96fs)
|
|
|
NM_001276345.2(TNNT2):c.283G>A (p.Val95Met)
|
rs1659515084
|
|
NM_001276345.2(TNNT2):c.284T>C (p.Val95Ala)
|
rs2102264743
|
|
NM_001276345.2(TNNT2):c.285G>A (p.Val95=)
|
rs1060503885
|
|
NM_001276345.2(TNNT2):c.286G>A (p.Asp96Asn)
|
rs1553282768
|
|
NM_001276345.2(TNNT2):c.290T>A (p.Phe97Tyr)
|
|
|
NM_001276345.2(TNNT2):c.290T>G (p.Phe97Cys)
|
|
|
NM_001276345.2(TNNT2):c.290_293delinsCTCTCCATCCCCGATGGAGAGAGAG (p.Phe97_Asp98delinsSerLeuHisProArgTrpArgGluSer)
|
|
|
NM_001276345.2(TNNT2):c.294+11G>A
|
|
|
NM_001276345.2(TNNT2):c.294+2T>A
|
rs1659512591
|
|
NM_001276345.2(TNNT2):c.294+5G>A
|
rs533357783
|
|
NM_001276345.2(TNNT2):c.294+8G>C
|
rs374092436
|
|
NM_001276345.2(TNNT2):c.295-11T>A
|
|
|
NM_001276345.2(TNNT2):c.295-11T>G
|
|
|
NM_001276345.2(TNNT2):c.295-17C>T
|
|
|
NM_001276345.2(TNNT2):c.295-18G>A
|
|
|
NM_001276345.2(TNNT2):c.295-1G>A
|
rs113876817
|
|
NM_001276345.2(TNNT2):c.295G>C (p.Asp99His)
|
|
|
NM_001276345.2(TNNT2):c.298A>G (p.Ile100Val)
|
|
|
NM_001276345.2(TNNT2):c.300C>T (p.Ile100=)
|
rs1230932782
|
|
NM_001276345.2(TNNT2):c.301C>T (p.His101Tyr)
|
rs2102262282
|
|
NM_001276345.2(TNNT2):c.302A>T (p.His101Leu)
|
rs1553282617
|
|
NM_001276345.2(TNNT2):c.304C>G (p.Arg102Gly)
|
|
|
NM_001276345.2(TNNT2):c.309G>T (p.Lys103Asn)
|
rs778426227
|
|
NM_001276345.2(TNNT2):c.310C>T (p.Arg104Cys)
|
rs727503513
|
|
NM_001276345.2(TNNT2):c.311G>A (p.Arg104His)
|
rs397516457
|
|
NM_001276345.2(TNNT2):c.311G>T (p.Arg104Leu)
|
rs397516457
|
|
NM_001276345.2(TNNT2):c.313A>G (p.Met105Val)
|
rs397516458
|
|
NM_001276345.2(TNNT2):c.314T>A (p.Met105Lys)
|
|
|
NM_001276345.2(TNNT2):c.314T>C (p.Met105Thr)
|
|
|
NM_001276345.2(TNNT2):c.316G>A (p.Glu106Lys)
|
rs869312881
|
|
NM_001276345.2(TNNT2):c.316_318del (p.Glu106del)
|
rs727504277
|
|
NM_001276345.2(TNNT2):c.319A>G (p.Lys107Glu)
|
rs1659444898
|
|
NM_001276345.2(TNNT2):c.321G>A (p.Lys107=)
|
rs397516459
|
|
NM_001276345.2(TNNT2):c.321G>C (p.Lys107Asn)
|
|
|
NM_001276345.2(TNNT2):c.321G>T (p.Lys107Asn)
|
rs397516459
|
|
NM_001276345.2(TNNT2):c.322G>C (p.Asp108His)
|
|
|
NM_001276345.2(TNNT2):c.323A>T (p.Asp108Val)
|
|
|
NM_001276345.2(TNNT2):c.324C>A (p.Asp108Glu)
|
rs1553282545
|
|
NM_001276345.2(TNNT2):c.325C>T (p.Leu109=)
|
rs779857935
|
|
NM_001276345.2(TNNT2):c.327G>A (p.Leu109=)
|
rs2102261737
|
|
NM_001276345.2(TNNT2):c.332A>G (p.Glu111Gly)
|
|
|
NM_001276345.2(TNNT2):c.333G>C (p.Glu111Asp)
|
rs1659441464
|
|
NM_001276345.2(TNNT2):c.337C>G (p.Gln113Glu)
|
rs2102261570
|
|
NM_001276345.2(TNNT2):c.340G>A (p.Ala114Thr)
|
rs1553282527
|
|
NM_001276345.2(TNNT2):c.340G>C (p.Ala114Pro)
|
rs1553282527
|
|
NM_001276345.2(TNNT2):c.341C>A (p.Ala114Glu)
|
rs727504245
|
|
NM_001276345.2(TNNT2):c.342G>A (p.Ala114=)
|
rs918054429
|
|
NM_001276345.2(TNNT2):c.344T>C (p.Leu115Pro)
|
rs1659438954
|
|
NM_001276345.2(TNNT2):c.347_348delinsCT (p.Ile116Thr)
|
rs1553282523
|
|
NM_001276345.2(TNNT2):c.34G>C (p.Glu12Gln)
|
rs760247765
|
|
NM_001276345.2(TNNT2):c.351G>A (p.Glu117=)
|
rs1659436211
|
|
NM_001276345.2(TNNT2):c.352G>A (p.Ala118Thr)
|
|
|
NM_001276345.2(TNNT2):c.357C>T (p.His119=)
|
|
|
NM_001276345.2(TNNT2):c.358T>A (p.Phe120Ile)
|
rs121964858
|
|
NM_001276345.2(TNNT2):c.362A>G (p.Glu121Gly)
|
rs2102261165
|
|
NM_001276345.2(TNNT2):c.363G>A (p.Glu121=)
|
rs2102261144
|
|
NM_001276345.2(TNNT2):c.364A>G (p.Asn122Asp)
|
rs1553282484
|
|
NM_001276345.2(TNNT2):c.366C>T (p.Asn122=)
|
rs979006197
|
|
NM_001276345.2(TNNT2):c.369G>C (p.Arg123Ser)
|
rs1558230929
|
|
NM_001276345.2(TNNT2):c.375del (p.Glu126fs)
|
rs560019679
|
|
NM_001276345.2(TNNT2):c.377_378del (p.Glu126fs)
|
rs1246597926
|
|
NM_001276345.2(TNNT2):c.378G>A (p.Glu126=)
|
|
|
NM_001276345.2(TNNT2):c.388C>G (p.Leu130Val)
|
|
|
NM_001276345.2(TNNT2):c.391G>C (p.Val131Leu)
|
rs537067344
|
|
NM_001276345.2(TNNT2):c.395C>A (p.Ser132Tyr)
|
rs1659426786
|
|
NM_001276345.2(TNNT2):c.397C>T (p.Leu133Phe)
|
|
|
NM_001276345.2(TNNT2):c.398T>G (p.Leu133Arg)
|
rs2102260711
|
|
NM_001276345.2(TNNT2):c.3G>A (p.Met1Ile)
|
rs1289914935
|
|
NM_001276345.2(TNNT2):c.400A>G (p.Lys134Glu)
|
|
|
NM_001276345.2(TNNT2):c.407G>T (p.Arg136Met)
|
|
|
NM_001276345.2(TNNT2):c.408G>C (p.Arg136Ser)
|
rs2102260528
|
|
NM_001276345.2(TNNT2):c.40G>T (p.Glu14Ter)
|
|
|
NM_001276345.2(TNNT2):c.41+14G>A
|
|
|
NM_001276345.2(TNNT2):c.41+16A>T
|
rs370729174
|
|
NM_001276345.2(TNNT2):c.41+6dup
|
rs1479180367
|
|
NM_001276345.2(TNNT2):c.412-4T>G
|
rs757304775
|
|
NM_001276345.2(TNNT2):c.412-6_412-4del
|
rs397516462
|
|
NM_001276345.2(TNNT2):c.412-94del
|
rs35559054
|
|
NM_001276345.2(TNNT2):c.42-11G>C
|
|
|
NM_001276345.2(TNNT2):c.42-12T>C
|
|
|
NM_001276345.2(TNNT2):c.42-18_42-17del
|
|
|
NM_001276345.2(TNNT2):c.42-5C>G
|
|
|
NM_001276345.2(TNNT2):c.42-6T>C
|
rs1660720268
|
|
NM_001276345.2(TNNT2):c.42-8G>A
|
|
|
NM_001276345.2(TNNT2):c.420T>C (p.Arg140=)
|
|
|
NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp)
|
rs74315380
|
|
NM_001276345.2(TNNT2):c.422G>A (p.Arg141Gln)
|
rs397516464
|
|
NM_001276345.2(TNNT2):c.422G>C (p.Arg141Pro)
|
rs397516464
|
|
NM_001276345.2(TNNT2):c.425C>T (p.Ala142Val)
|
|
|
NM_001276345.2(TNNT2):c.427G>C (p.Glu143Gln)
|
rs1316344347
|
|
NM_001276345.2(TNNT2):c.430C>G (p.Arg144Gly)
|
rs45525839
|
|
NM_001276345.2(TNNT2):c.430C>T (p.Arg144Trp)
|
rs45525839
|
|
NM_001276345.2(TNNT2):c.441G>A (p.Gln147=)
|
rs1044313920
|
|
NM_001276345.2(TNNT2):c.444G>A (p.Gln148=)
|
rs2102253556
|
|
NM_001276345.2(TNNT2):c.445C>G (p.Arg149Gly)
|
|
|
NM_001276345.2(TNNT2):c.445C>T (p.Arg149Cys)
|
rs397516465
|
|
NM_001276345.2(TNNT2):c.446G>A (p.Arg149His)
|
rs397516466
|
|
NM_001276345.2(TNNT2):c.447C>T (p.Arg149=)
|
rs1257601230
|
|
NM_001276345.2(TNNT2):c.448A>G (p.Ile150Val)
|
|
|
NM_001276345.2(TNNT2):c.451C>A (p.Arg151=)
|
rs74315379
|
|
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp)
|
rs74315379
|
|
NM_001276345.2(TNNT2):c.451del (p.Arg151fs)
|
rs730881115
|
|
NM_001276345.2(TNNT2):c.453G>C (p.Arg151=)
|
rs786204406
|
|
NM_001276345.2(TNNT2):c.463G>A (p.Glu155Lys)
|
rs984218824
|
|
NM_001276345.2(TNNT2):c.465G>A (p.Glu155=)
|
rs1416632771
|
|
NM_001276345.2(TNNT2):c.470A>G (p.Glu157Gly)
|
|
|
NM_001276345.2(TNNT2):c.473_474delinsAC (p.Arg158His)
|
rs1659257189
|
|
NM_001276345.2(TNNT2):c.476A>C (p.Gln159Pro)
|
|
|
NM_001276345.2(TNNT2):c.476A>T (p.Gln159Leu)
|
rs1659255484
|
|
NM_001276345.2(TNNT2):c.481C>T (p.Arg161Cys)
|
rs45608937
|
|
NM_001276345.2(TNNT2):c.487G>A (p.Ala163Thr)
|
rs727505030
|
|
NM_001276345.2(TNNT2):c.489+16C>A
|
rs1220628508
|
|
NM_001276345.2(TNNT2):c.489+18del
|
|
|
NM_001276345.2(TNNT2):c.489+7G>T
|
rs2102252517
|
|
NM_001276345.2(TNNT2):c.489+9C>A
|
rs1060503884
|
|
NM_001276345.2(TNNT2):c.490-10T>C
|
rs1659073969
|
|
NM_001276345.2(TNNT2):c.490-11C>A
|
|
|
NM_001276345.2(TNNT2):c.490-14C>G
|
|
|
NM_001276345.2(TNNT2):c.490-69C>T
|
rs483352834
|
|
NM_001276345.2(TNNT2):c.493G>T (p.Glu165Ter)
|
rs1558225837
|
|
NM_001276345.2(TNNT2):c.497G>A (p.Arg166Lys)
|
|
|
NM_001276345.2(TNNT2):c.498G>A (p.Arg166=)
|
rs750399630
|
|
NM_001276345.2(TNNT2):c.4T>C (p.Ser2Pro)
|
rs765584396
|
|
NM_001276345.2(TNNT2):c.500C>G (p.Ala167Gly)
|
|
|
NM_001276345.2(TNNT2):c.502C>G (p.Arg168Gly)
|
rs730881103
|
|
NM_001276345.2(TNNT2):c.502C>T (p.Arg168Ter)
|
|
|
NM_001276345.2(TNNT2):c.503G>A (p.Arg168Gln)
|
rs397516468
|
|
NM_001276345.2(TNNT2):c.503G>C (p.Arg168Pro)
|
rs397516468
|
|
NM_001276345.2(TNNT2):c.505C>G (p.Arg169Gly)
|
|
|
NM_001276345.2(TNNT2):c.506G>A (p.Arg169Gln)
|
rs45501500
|
|
NM_001276345.2(TNNT2):c.507A>G (p.Arg169=)
|
|
|
NM_001276345.2(TNNT2):c.508GAG[3] (p.Glu173del)
|
rs397516470
|
|
NM_001276345.2(TNNT2):c.508GAG[5] (p.Glu173dup)
|
rs397516470
|
|
NM_001276345.2(TNNT2):c.513G>A (p.Glu171=)
|
rs1378883954
|
|
NM_001276345.2(TNNT2):c.516_517delinsTT (p.Glu172_Glu173delinsAspTer)
|
rs730881118
|
|
NM_001276345.2(TNNT2):c.517G>A (p.Glu173Lys)
|
rs1558225569
|
|
NM_001276345.2(TNNT2):c.518A>G (p.Glu173Gly)
|
rs780067626
|
|
NM_001276345.2(TNNT2):c.52+13_52+17dup
|
|
|
NM_001276345.2(TNNT2):c.52+18T>C
|
|
|
NM_001276345.2(TNNT2):c.522C>A (p.Asn174Lys)
|
rs483352833
|
|
NM_001276345.2(TNNT2):c.528G>A (p.Arg176=)
|
|
|
NM_001276345.2(TNNT2):c.529A>G (p.Lys177Glu)
|
rs2102245349
|
|
NM_001276345.2(TNNT2):c.52G>T (p.Glu18Ter)
|
|
|
NM_001276345.2(TNNT2):c.53-11C>T
|
|
|
NM_001276345.2(TNNT2):c.53-11_53-7del
|
rs45533739
|
|
NM_001276345.2(TNNT2):c.53-19G>A
|
rs2102308860
|
|
NM_001276345.2(TNNT2):c.53-4G>A
|
rs2102308667
|
|
NM_001276345.2(TNNT2):c.53-6G>A
|
rs764862951
|
|
NM_001276345.2(TNNT2):c.547C>A (p.Arg183=)
|
|
|
NM_001276345.2(TNNT2):c.547C>G (p.Arg183Gly)
|
rs727503512
|
|
NM_001276345.2(TNNT2):c.547C>T (p.Arg183Trp)
|
rs727503512
|
|
NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln)
|
rs397516471
|
|
NM_001276345.2(TNNT2):c.549G>A (p.Arg183=)
|
|
|
NM_001276345.2(TNNT2):c.550A>C (p.Lys184Gln)
|
|
|
NM_001276345.2(TNNT2):c.550AAG[2] (p.Lys186del)
|
rs1558225172
|
|
NM_001276345.2(TNNT2):c.557A>T (p.Lys186Met)
|
rs1486862820
|
|
NM_001276345.2(TNNT2):c.558G>A (p.Lys186=)
|
|
|
NM_001276345.2(TNNT2):c.55G>T (p.Ala19Ser)
|
|
|
NM_001276345.2(TNNT2):c.564G>C (p.Leu188Phe)
|
rs201270895
|
|
NM_001276345.2(TNNT2):c.565T>G (p.Ser189Ala)
|
rs377157235
|
|
NM_001276345.2(TNNT2):c.566C>T (p.Ser189Phe)
|
rs727504246
|
|
NM_001276345.2(TNNT2):c.570C>T (p.Asn190=)
|
rs764636823
|
|
NM_001276345.2(TNNT2):c.571A>T (p.Met191Leu)
|
|
|
NM_001276345.2(TNNT2):c.572T>C (p.Met191Thr)
|
rs869025538
|
|
NM_001276345.2(TNNT2):c.573G>A (p.Met191Ile)
|
rs876658028
|
|
NM_001276345.2(TNNT2):c.574A>T (p.Met192Leu)
|
rs1553281184
|
|
NM_001276345.2(TNNT2):c.576G>A (p.Met192Ile)
|
|
|
NM_001276345.2(TNNT2):c.577C>T (p.His193Tyr)
|
rs753292088
|
|
NM_001276345.2(TNNT2):c.578A>G (p.His193Arg)
|
rs2102244668
|
|
NM_001276345.2(TNNT2):c.57A>T (p.Ala19=)
|
rs1571673874
|
|
NM_001276345.2(TNNT2):c.584G>T (p.Gly195Val)
|
rs1558224822
|
|
NM_001276345.2(TNNT2):c.58G>T (p.Ala20Ser)
|
|
|
NM_001276345.2(TNNT2):c.590A>G (p.Tyr197Cys)
|
rs1659042676
|
|
NM_001276345.2(TNNT2):c.593T>A (p.Ile198Asn)
|
rs878854148
|
|
NM_001276345.2(TNNT2):c.593T>C (p.Ile198Thr)
|
rs878854148
|
|
NM_001276345.2(TNNT2):c.59C>A (p.Ala20Asp)
|
|
|
NM_001276345.2(TNNT2):c.600+13C>T
|
|
|
NM_001276345.2(TNNT2):c.600+13CAG[3]
|
|
|
NM_001276345.2(TNNT2):c.600+14A>G
|
|
|
NM_001276345.2(TNNT2):c.600+14A>T
|
|
|
NM_001276345.2(TNNT2):c.600+20G>T
|
|
|
NM_001276345.2(TNNT2):c.600+4G>C
|
rs372988386
|
|
NM_001276345.2(TNNT2):c.600+5G>A
|
rs1571614401
|
|
NM_001276345.2(TNNT2):c.600G>A (p.Lys200=)
|
|
|
NM_001276345.2(TNNT2):c.601-7G>T
|
|
|
NM_001276345.2(TNNT2):c.601-8C>A
|
rs397516475
|
|
NM_001276345.2(TNNT2):c.609+18C>T
|
|
|
NM_001276345.2(TNNT2):c.609+1G>A
|
|
|
NM_001276345.2(TNNT2):c.609+1G>T
|
|
|
NM_001276345.2(TNNT2):c.610-10C>T
|
rs375547142
|
|
NM_001276345.2(TNNT2):c.610-12C>T
|
|
|
NM_001276345.2(TNNT2):c.610-4C>A
|
|
|
NM_001276345.2(TNNT2):c.610-9A>C
|
|
|
NM_001276345.2(TNNT2):c.611C>T (p.Thr204Ile)
|
rs2102235172
|
|
NM_001276345.2(TNNT2):c.613G>C (p.Glu205Gln)
|
|
|
NM_001276345.2(TNNT2):c.614A>G (p.Glu205Gly)
|
rs1658740460
|
|
NM_001276345.2(TNNT2):c.614_615del (p.Glu205fs)
|
rs760664767
|
|
NM_001276345.2(TNNT2):c.616C>T (p.Arg206Trp)
|
rs730881106
|
|
NM_001276345.2(TNNT2):c.617G>T (p.Arg206Leu)
|
|
|
NM_001276345.2(TNNT2):c.619A>G (p.Lys207Glu)
|
rs1658737079
|
|
NM_001276345.2(TNNT2):c.61G>A (p.Val21Ile)
|
|
|
NM_001276345.2(TNNT2):c.620A>G (p.Lys207Arg)
|
|
|
NM_001276345.2(TNNT2):c.624T>G (p.Ser208Arg)
|
|
|
NM_001276345.2(TNNT2):c.632G>C (p.Arg211Thr)
|
|
|
NM_001276345.2(TNNT2):c.638C>A (p.Thr213Asn)
|
rs397516476
|
|
NM_001276345.2(TNNT2):c.638C>G (p.Thr213Ser)
|
rs397516476
|
|
NM_001276345.2(TNNT2):c.63dup (p.Glu22Ter)
|
|
|
NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp)
|
rs45586240
|
|
NM_001276345.2(TNNT2):c.644G>A (p.Arg215Gln)
|
rs121964860
|
|
NM_001276345.2(TNNT2):c.645G>C (p.Arg215=)
|
rs1571605548
|
|
NM_001276345.2(TNNT2):c.650AGA[2] (p.Lys219_Lys220del)
|
|
|
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del)
|
rs45578238
|
|
NM_001276345.2(TNNT2):c.655A>T (p.Lys219Ter)
|
rs1658729126
|
|
NM_001276345.2(TNNT2):c.659A>C (p.Lys220Thr)
|
|
|
NM_001276345.2(TNNT2):c.668C>T (p.Ala223Val)
|
|
|
NM_001276345.2(TNNT2):c.67+18G>C
|
|
|
NM_001276345.2(TNNT2):c.67+20G>A
|
|
|
NM_001276345.2(TNNT2):c.67+5G>A
|
|
|
NM_001276345.2(TNNT2):c.67+7G>T
|
rs1312770200
|
|
NM_001276345.2(TNNT2):c.676A>G (p.Arg226Gly)
|
rs1658724713
|
|
NM_001276345.2(TNNT2):c.676A>T (p.Arg226Trp)
|
rs1658724713
|
|
NM_001276345.2(TNNT2):c.68-6C>A
|
rs941842854
|
|
NM_001276345.2(TNNT2):c.681G>A (p.Lys227=)
|
rs2102234206
|
|
NM_001276345.2(TNNT2):c.682G>C (p.Val228Leu)
|
rs397516479
|
|
NM_001276345.2(TNNT2):c.694G>T (p.Asp232Tyr)
|
rs1658720414
|
|
NM_001276345.2(TNNT2):c.696C>T (p.Asp232=)
|
rs2102234025
|
|
NM_001276345.2(TNNT2):c.709G>A (p.Asp237Asn)
|
|
|
NM_001276345.2(TNNT2):c.712C>G (p.Gln238Glu)
|
rs730881108
|
|
NM_001276345.2(TNNT2):c.714G>A (p.Gln238=)
|
|
|
NM_001276345.2(TNNT2):c.715C>T (p.Leu239=)
|
|
|
NM_001276345.2(TNNT2):c.719+13A>C
|
rs563883763
|
|
NM_001276345.2(TNNT2):c.719+13A>G
|
rs563883763
|
|
NM_001276345.2(TNNT2):c.719+17A>G
|
|
|
NM_001276345.2(TNNT2):c.719+18T>C
|
|
|
NM_001276345.2(TNNT2):c.719+1G>C
|
rs1169197265
|
|
NM_001276345.2(TNNT2):c.719G>A (p.Arg240Lys)
|
rs2102233852
|
|
NM_001276345.2(TNNT2):c.720-10G>A
|
rs2102229886
|
|
NM_001276345.2(TNNT2):c.720-14C>G
|
|
|
NM_001276345.2(TNNT2):c.720-32_720-14dup
|
|
|
NM_001276345.2(TNNT2):c.720-6G>T
|
rs113471285
|
|
NM_001276345.2(TNNT2):c.732G>A (p.Lys244=)
|
|
|
NM_001276345.2(TNNT2):c.734A>G (p.Glu245Gly)
|
rs1658593284
|
|
NM_001276345.2(TNNT2):c.736C>T (p.Leu246=)
|
rs786204407
|
|
NM_001276345.2(TNNT2):c.739T>C (p.Trp247Arg)
|
|
|
NM_001276345.2(TNNT2):c.750C>T (p.Ile250=)
|
rs2102229287
|
|
NM_001276345.2(TNNT2):c.753T>C (p.Tyr251=)
|
|
|
NM_001276345.2(TNNT2):c.764C>T (p.Ala255Val)
|
rs369181536
|
|
NM_001276345.2(TNNT2):c.768G>C (p.Glu256Asp)
|
|
|
NM_001276345.2(TNNT2):c.770A>C (p.Lys257Thr)
|
|
|
NM_001276345.2(TNNT2):c.771G>C (p.Lys257Asn)
|
|
|
NM_001276345.2(TNNT2):c.772T>C (p.Phe258Leu)
|
rs730881110
|
|
NM_001276345.2(TNNT2):c.772T>G (p.Phe258Val)
|
rs730881110
|
|
NM_001276345.2(TNNT2):c.776A>G (p.Asp259Gly)
|
rs1658581767
|
|
NM_001276345.2(TNNT2):c.779T>A (p.Leu260Gln)
|
rs376037051
|
|
NM_001276345.2(TNNT2):c.780G>A (p.Leu260=)
|
rs1658580183
|
|
NM_001276345.2(TNNT2):c.782A>G (p.Gln261Arg)
|
rs2102228802
|
|
NM_001276345.2(TNNT2):c.789_798delinsCTTGGGT (p.Lys263_Gln266delinsAsnLeuGly)
|
rs1658576787
|
|
NM_001276345.2(TNNT2):c.805T>C (p.Tyr269His)
|
rs730881112
|
|
NM_001276345.2(TNNT2):c.806A>G (p.Tyr269Cys)
|
rs1553280112
|
|
NM_001276345.2(TNNT2):c.807T>C (p.Tyr269=)
|
|
|
NM_001276345.2(TNNT2):c.808G>A (p.Glu270Lys)
|
rs1131691898
|
|
NM_001276345.2(TNNT2):c.810+15T>C
|
rs2102228364
|
|
NM_001276345.2(TNNT2):c.810+18C>T
|
|
|
NM_001276345.2(TNNT2):c.810+7C>T
|
rs373069229
|
|
NM_001276345.2(TNNT2):c.810+8G>T
|
rs369645817
|
|
NM_001276345.2(TNNT2):c.810G>T (p.Glu270Asp)
|
rs1658572329
|
|
NM_001276345.2(TNNT2):c.811-11T>G
|
|
|
NM_001276345.2(TNNT2):c.811-17T>C
|
|
|
NM_001276345.2(TNNT2):c.811-18T>C
|
|
|
NM_001276345.2(TNNT2):c.811-5T>G
|
|
|
NM_001276345.2(TNNT2):c.811-7C>T
|
|
|
NM_001276345.2(TNNT2):c.811-8del
|
|
|
NM_001276345.2(TNNT2):c.812T>G (p.Ile271Ser)
|
rs371384395
|
|
NM_001276345.2(TNNT2):c.817G>A (p.Val273Ile)
|
rs1571590208
|
|
NM_001276345.2(TNNT2):c.818T>C (p.Val273Ala)
|
rs1553279354
|
|
NM_001276345.2(TNNT2):c.818_819insACTCCGAAACAGGATCAACGT (p.Asn279_Asp280insValLeuArgAsnArgIleAsn)
|
|
|
NM_001276345.2(TNNT2):c.823C>A (p.Arg275=)
|
rs748970759
|
|
NM_001276345.2(TNNT2):c.824G>A (p.Arg275Gln)
|
rs730881125
|
|
NM_001276345.2(TNNT2):c.828C>T (p.Asn276=)
|
rs1553279337
|
|
NM_001276345.2(TNNT2):c.834C>T (p.Ile278=)
|
rs1278830616
|
|
NM_001276345.2(TNNT2):c.836A>G (p.Asn279Ser)
|
rs2102217035
|
|
NM_001276345.2(TNNT2):c.838G>A (p.Asp280Asn)
|
rs121964861
|
|
NM_001276345.2(TNNT2):c.838G>T (p.Asp280Tyr)
|
rs121964861
|
|
NM_001276345.2(TNNT2):c.840T>C (p.Asp280=)
|
|
|
NM_001276345.2(TNNT2):c.841A>T (p.Asn281Tyr)
|
rs2102216937
|
|
NM_001276345.2(TNNT2):c.842A>G (p.Asn281Ser)
|
rs863225119
|
|
NM_001276345.2(TNNT2):c.842A>T (p.Asn281Ile)
|
rs863225119
|
|
NM_001276345.2(TNNT2):c.844C>T (p.Gln282Ter)
|
rs796925245
|
|
NM_001276345.2(TNNT2):c.849A>G (p.Lys283=)
|
rs2102216749
|
|
NM_001276345.2(TNNT2):c.851+11G>A
|
|
|
NM_001276345.2(TNNT2):c.851+1G>A
|
rs111377893
|
|
NM_001276345.2(TNNT2):c.851+1G>C
|
rs111377893
|
|
NM_001276345.2(TNNT2):c.851+1G>T
|
rs111377893
|
|
NM_001276345.2(TNNT2):c.851+2dup
|
rs2102216666
|
|
NM_001276345.2(TNNT2):c.851+5G>A
|
rs193922620
|
|
NM_001276345.2(TNNT2):c.851+5G>C
|
rs193922620
|
|
NM_001276345.2(TNNT2):c.851+6T>A
|
|
|
NM_001276345.2(TNNT2):c.851+8T>C
|
|
|
NM_001276345.2(TNNT2):c.851T>C (p.Val284Ala)
|
|
|
NM_001276345.2(TNNT2):c.852-1G>T
|
rs730881114
|
|
NM_001276345.2(TNNT2):c.852-2A>C
|
rs111692981
|
|
NM_001276345.2(TNNT2):c.852-2A>G
|
rs111692981
|
|
NM_001276345.2(TNNT2):c.852-3C>G
|
rs749454768
|
|
NM_001276345.2(TNNT2):c.852-3C>T
|
rs749454768
|
|
NM_001276345.2(TNNT2):c.852-7C>T
|
rs1233814100
|
|
NM_001276345.2(TNNT2):c.852-9C>T
|
|
|
NM_001276345.2(TNNT2):c.861C>G (p.Thr287=)
|
rs754211195
|
|
NM_001276345.2(TNNT2):c.861C>T (p.Thr287=)
|
|
|
NM_001276345.2(TNNT2):c.863G>C (p.Arg288Pro)
|
rs397516484
|
|
NM_001276345.2(TNNT2):c.864C>A (p.Arg288=)
|
|
|
NM_001276345.2(TNNT2):c.865G>A (p.Gly289Arg)
|
rs757664792
|
|
NM_001276345.2(TNNT2):c.865G>C (p.Gly289Arg)
|
rs757664792
|
|
NM_001276345.2(TNNT2):c.866G>A (p.Gly289Glu)
|
rs727505233
|
|
NM_001276345.2(TNNT2):c.868A>G (p.Lys290Glu)
|
|
|
NM_001276345.2(TNNT2):c.870G>A (p.Lys290=)
|
|
|
NM_001276345.2(TNNT2):c.874A>G (p.Lys292Glu)
|
rs1553279043
|
|
NM_001276345.2(TNNT2):c.879C>T (p.Val293=)
|
|
|
NM_001276345.2(TNNT2):c.883G>C (p.Gly295Arg)
|
rs147940106
|
|
NM_001276345.2(TNNT2):c.884G>A (p.Gly295Glu)
|
rs1272169178
|
|
NM_001276345.2(TNNT2):c.885G>A (p.Gly295=)
|
rs2102212901
|
|
NM_001276345.2(TNNT2):c.886C>A (p.Arg296Ser)
|
rs367785431
|
|
NM_001276345.2(TNNT2):c.891G>A (p.Trp297Ter)
|
rs730881116
|
|
NM_001276345.2(TNNT2):c.891G>C (p.Trp297Cys)
|
|
|
NM_001276345.2(TNNT2):c.893A>C (p.Lys298Thr)
|
rs770794082
|
|
NM_001276345.2(TNNT2):c.897G>A (p.Ter299=)
|
rs1311267989
|
|
NM_001276345.2(TNNT2):c.97G>A (p.Glu33Lys)
|
rs377474357
|
|
NM_001276345.2(TNNT2):c.98-13T>C
|
|
|
NM_001276345.2(TNNT2):c.98-19G>A
|
|
|
NM_001276345.2(TNNT2):c.98-4C>G
|
rs775895925
|
|
NM_001276345.2(TNNT2):c.98-6C>T
|
rs1335680363
|
|
NM_001276345.2(TNNT2):c.98-9C>A
|
|
|
NM_001287491.2(TET3):c.2362G>A (p.Glu788Lys)
|
rs751524927
|
|
NM_001289808.2(CRYAB):c.326A>G (p.Asp109Gly)
|
rs1114167341
|
|
NM_001378743.1(CYLD):c.2040dup (p.Asp681fs)
|
rs1597073318
|
|
NM_001379451.1(BCORL1):c.2242C>T (p.Gln748Ter)
|
rs1603113792
|
|
NM_001400225.1(MGA):c.3733G>C (p.Glu1245Gln)
|
rs1595889508
|
|
NM_001412.4(EIF1AX):c.295G>A (p.Glu99Lys)
|
rs1603415028
|
|
NM_001458.5(FLNC):c.3551G>T (p.Gly1184Val)
|
|
|
NM_001458.5(FLNC):c.4861A>T (p.Ile1621Phe)
|
rs1808685364
|
|
NM_001458.5(FLNC):c.6031G>A (p.Gly2011Arg)
|
rs1554400962
|
|
NM_001458.5(FLNC):c.6892C>T (p.Pro2298Ser)
|
rs1554401403
|
|
NM_001458.5(FLNC):c.6893C>T (p.Pro2298Leu)
|
rs1382734231
|
|
NM_001458.5(FLNC):c.7688A>G (p.Tyr2563Cys)
|
rs1563005534
|
|
NM_002168.4(IDH2):c.418C>T (p.Arg140Trp)
|
rs267606870
|
|
NM_002168.4(IDH2):c.419G>T (p.Arg140Leu)
|
rs121913502
|
|
NM_002185.5(IL7R):c.205C>G (p.Leu69Val)
|
rs1580851879
|
|
NM_002447.4(MST1R):c.1477G>T (p.Asp493Tyr)
|
rs1575446356
|
|
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys)
|
rs121913254
|
|
NM_002524.5(NRAS):c.182A>C (p.Gln61Pro)
|
rs11554290
|
|
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg)
|
rs11554290
|
|
NM_002524.5(NRAS):c.182A>T (p.Gln61Leu)
|
rs11554290
|
|
NM_002524.5(NRAS):c.183A>T (p.Gln61His)
|
rs121913255
|
|
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser)
|
rs121913250
|
|
NM_002524.5(NRAS):c.34G>C (p.Gly12Arg)
|
rs121913250
|
|
NM_002524.5(NRAS):c.34G>T (p.Gly12Cys)
|
rs121913250
|
|
NM_002524.5(NRAS):c.35G>C (p.Gly12Ala)
|
rs121913237
|
|
NM_002524.5(NRAS):c.35G>T (p.Gly12Val)
|
rs121913237
|
|
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg)
|
rs121434595
|
|
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp)
|
rs121434596
|
|
NM_002524.5(NRAS):c.38G>T (p.Gly13Val)
|
rs121434596
|
|
NM_002653.5(PITX1):c.412A>C (p.Lys138Gln)
|
rs1752408637
|
|
NM_002834.5(PTPN11):c.1508G>T (p.Gly503Val)
|
rs397507546
|
|
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys)
|
rs121918464
|
|
NM_002834.5(PTPN11):c.227A>C (p.Glu76Ala)
|
rs121918465
|
|
NM_002834.5(PTPN11):c.227A>G (p.Glu76Gly)
|
rs121918465
|
|
NM_002892.4(ARID4A):c.2614G>T (p.Glu872Ter)
|
rs1594966387
|
|
NM_002957.6(RXRA):c.671G>A (p.Ser224Asn)
|
rs1588299621
|
|
NM_003482.4(KMT2D):c.12844C>T (p.Arg4282Ter)
|
rs1057517992
|
|
NM_003514.2(H2AC17):c.364G>A (p.Glu122Lys)
|
rs1581495906
|
|
NM_003529.3(H3C1):c.400G>C (p.Glu134Gln)
|
rs764264135
|
|
NM_004006.3(DMD):c.2273A>C (p.Asp758Ala)
|
rs750526692
|
|
NM_004048.4(B2M):c.1A>G (p.Met1Val)
|
rs1023835002
|
|
NM_004048.4(B2M):c.1A>T (p.Met1Leu)
|
rs1023835002
|
|
NM_004048.4(B2M):c.2T>C (p.Met1Thr)
|
rs1057519879
|
|
NM_004048.4(B2M):c.2T>G (p.Met1Arg)
|
rs1057519879
|
|
NM_004048.4(B2M):c.3G>A (p.Met1Ile)
|
rs1057519877
|
|
NM_004119.3(FLT3):c.1714T>C (p.Tyr572His)
|
rs1208575764
|
|
NM_004187.5(KDM5C):c.67G>T (p.Glu23Ter)
|
rs1602247047
|
|
NM_004260.4(RECQL4):c.3136G>A (p.Glu1046Lys)
|
rs771349728
|
|
NM_004333.6(BRAF):c.1397G>A (p.Gly466Glu)
|
rs121913351
|
|
NM_004333.6(BRAF):c.1397G>C (p.Gly466Ala)
|
rs121913351
|
|
NM_004333.6(BRAF):c.1397G>T (p.Gly466Val)
|
rs121913351
|
|
NM_004333.6(BRAF):c.1405G>C (p.Gly469Arg)
|
rs121913357
|
|
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu)
|
rs121913355
|
|
NM_004333.6(BRAF):c.1406G>C (p.Gly469Ala)
|
rs121913355
|
|
NM_004333.6(BRAF):c.1406G>T (p.Gly469Val)
|
rs121913355
|
|
NM_004333.6(BRAF):c.1741A>C (p.Asn581His)
|
rs180177040
|
|
NM_004333.6(BRAF):c.1742A>C (p.Asn581Thr)
|
rs121913370
|
|
NM_004333.6(BRAF):c.1742A>G (p.Asn581Ser)
|
rs121913370
|
|
NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn)
|
rs397516896
|
|
NM_004333.6(BRAF):c.1780G>C (p.Asp594His)
|
rs397516896
|
|
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly)
|
rs121913338
|
|
NM_004333.6(BRAF):c.1786G>A (p.Gly596Ser)
|
rs121913361
|
|
NM_004333.6(BRAF):c.1786G>C (p.Gly596Arg)
|
rs121913361
|
|
NM_004333.6(BRAF):c.1787G>A (p.Gly596Asp)
|
rs397507483
|
|
NM_004333.6(BRAF):c.1787G>T (p.Gly596Val)
|
rs397507483
|
|
NM_004333.6(BRAF):c.1790T>A (p.Leu597Gln)
|
rs121913366
|
|
NM_004333.6(BRAF):c.1790T>G (p.Leu597Arg)
|
rs121913366
|
|
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)
|
rs113488022
|
|
NM_004415.4(DSP):c.4385_4386delinsTT (p.Ser1462Ile)
|
rs730880090
|
|
NM_004656.4(BAP1):c.1787G>C (p.Ser596Thr)
|
rs1478603808
|
|
NM_004690.4(LATS1):c.2449G>A (p.Glu817Lys)
|
rs1582867955
|
|
NM_004985.5(KRAS):c.182A>T (p.Gln61Leu)
|
rs121913240
|
|
NM_004985.5(KRAS):c.183A>T (p.Gln61His)
|
rs17851045
|
|
NM_004985.5(KRAS):c.35G>C (p.Gly12Ala)
|
rs121913529
|
|
NM_005027.4(PIK3R2):c.572C>A (p.Ser191Ter)
|
rs1418268495
|
|
NM_005159.4(ACTC1):c.*1062G>A
|
rs886051072
|
|
NM_005159.4(ACTC1):c.*1070A>C
|
rs886051071
|
|
NM_005159.4(ACTC1):c.*1115A>T
|
rs886051069
|
|
NM_005159.4(ACTC1):c.*1482G>T
|
rs886051066
|
|
NM_005159.4(ACTC1):c.*1502G>T
|
rs886051065
|
|
NM_005159.4(ACTC1):c.*1753G>T
|
rs886051064
|
|
NM_005159.4(ACTC1):c.*1797C>A
|
rs886051063
|
|
NM_005159.4(ACTC1):c.*2168G>T
|
rs886051061
|
|
NM_005159.4(ACTC1):c.*224G>C
|
rs551820554
|
|
NM_005159.4(ACTC1):c.*247G>A
|
rs886051088
|
|
NM_005159.4(ACTC1):c.*284G>A
|
rs886051087
|
|
NM_005159.4(ACTC1):c.*307T>A
|
rs886051086
|
|
NM_005159.4(ACTC1):c.*422T>A
|
rs886051084
|
|
NM_005159.4(ACTC1):c.*561C>A
|
rs886051083
|
|
NM_005159.4(ACTC1):c.*643C>A
|
rs886051081
|
|
NM_005159.4(ACTC1):c.*646C>A
|
rs886051080
|
|
NM_005159.4(ACTC1):c.*674C>A
|
rs886051079
|
|
NM_005159.4(ACTC1):c.*708G>T
|
rs886051077
|
|
NM_005159.4(ACTC1):c.*739G>T
|
rs886051076
|
|
NM_005159.4(ACTC1):c.*775C>A
|
rs886051075
|
|
NM_005159.4(ACTC1):c.*935G>T
|
rs766542832
|
|
NM_005159.4(ACTC1):c.-101G>T
|
rs886051095
|
|
NM_005159.4(ACTC1):c.-105C>A
|
rs886051096
|
|
NM_005159.4(ACTC1):c.-175C>A
|
rs886051098
|
|
NM_005159.4(ACTC1):c.-194C>A
|
rs886051099
|
|
NM_005159.5(ACTC1):c.-55C>A
|
rs886051093
|
|
NM_005159.5(ACTC1):c.-55CCG[3]
|
rs886051092
|
|
NM_005159.5(ACTC1):c.809-12_809-11insGT
|
rs774238821
|
|
NM_005159.5(ACTC1):c.809-58TG[17]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[21]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[22]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[24]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[25]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[26]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.978C>A (p.Thr326=)
|
rs886051089
|
|
NM_005245.4(FAT1):c.2668G>A (p.Glu890Lys)
|
rs1579484570
|
|
NM_005245.4(FAT1):c.720G>A (p.Met240Ile)
|
rs1579491104
|
|
NM_005321.3(H1-4):c.133A>C (p.Thr45Pro)
|
rs951047896
|
|
NM_005343.4(HRAS):c.181C>G (p.Gln61Glu)
|
rs28933406
|
|
NM_005343.4(HRAS):c.182A>C (p.Gln61Pro)
|
rs121913233
|
|
NM_005343.4(HRAS):c.182A>T (p.Gln61Leu)
|
rs121913233
|
|
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)
|
rs104894229
|
|
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys)
|
rs104894229
|
|
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala)
|
rs104894230
|
|
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg)
|
rs104894228
|
|
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)
|
rs104894228
|
|
NM_005343.4(HRAS):c.38G>C (p.Gly13Ala)
|
rs104894226
|
|
NM_005343.4(HRAS):c.38G>T (p.Gly13Val)
|
rs104894226
|
|
NM_005343.4(HRAS):c.436G>A (p.Ala146Thr)
|
rs104894231
|
|
NM_005343.4(HRAS):c.436G>C (p.Ala146Pro)
|
rs104894231
|
|
NM_005343.4(HRAS):c.437C>T (p.Ala146Val)
|
rs121917759
|
|
NM_005681.4(TAF1A):c.781A>C (p.Thr261Pro)
|
rs141728719
|
|
NM_005733.3(KIF20A):c.1423C>T (p.Arg475Ter)
|
|
|
NM_005733.3(KIF20A):c.1909del (p.Tyr637fs)
|
rs2151233812
|
|
NM_005733.3(KIF20A):c.2416A>G (p.Lys806Glu)
|
|
|
NM_005896.4(IDH1):c.394C>A (p.Arg132Ser)
|
rs121913499
|
|
NM_005896.4(IDH1):c.394C>G (p.Arg132Gly)
|
rs121913499
|
|
NM_005896.4(IDH1):c.395G>T (p.Arg132Leu)
|
rs121913500
|
|
NM_006172.4(NPPA):c.25G>A (p.Val9Met)
|
rs143419574
|
|
NM_006206.5(PDGFRA):c.-284G>T
|
rs145549583
|
|
NM_006206.6(PDGFRA):c.*1039A>G
|
rs981481475
|
|
NM_006206.6(PDGFRA):c.*1050C>T
|
rs1560497216
|
|
NM_006206.6(PDGFRA):c.*1109_*1111del
|
rs34529347
|
|
NM_006206.6(PDGFRA):c.*1110_*1111del
|
rs34529347
|
|
NM_006206.6(PDGFRA):c.*1111del
|
rs34529347
|
|
NM_006206.6(PDGFRA):c.*1112_*1113del
|
rs886059456
|
|
NM_006206.6(PDGFRA):c.*1133T>C
|
rs1577757730
|
|
NM_006206.6(PDGFRA):c.*1137G>A
|
rs55710909
|
|
NM_006206.6(PDGFRA):c.*1821A>C
|
rs187821520
|
|
NM_006206.6(PDGFRA):c.*2226C>A
|
rs556595868
|
|
NM_006206.6(PDGFRA):c.*2281C>A
|
rs1724934694
|
|
NM_006206.6(PDGFRA):c.*2494C>A
|
rs886059461
|
|
NM_006206.6(PDGFRA):c.*2856A>G
|
rs886059463
|
|
NM_006206.6(PDGFRA):c.*374A>C
|
rs3690
|
|
NM_006206.6(PDGFRA):c.*374A>T
|
rs3690
|
|
NM_006206.6(PDGFRA):c.*574_*575del
|
rs886059451
|
|
NM_006206.6(PDGFRA):c.*590C>A
|
rs993682652
|
|
NM_006206.6(PDGFRA):c.*791A>T
|
rs1724865504
|
|
NM_006206.6(PDGFRA):c.*970CAAA[1]
|
rs757111915
|
|
NM_006206.6(PDGFRA):c.*998C>G
|
rs1006360272
|
|
NM_006206.6(PDGFRA):c.-106AG[1]
|
rs1799767
|
|
NM_006206.6(PDGFRA):c.1365-12T>C
|
rs886059445
|
|
NM_006206.6(PDGFRA):c.1596G>C (p.Leu532=)
|
rs1723603076
|
|
NM_006206.6(PDGFRA):c.1651C>A (p.Gln551Lys)
|
rs770950644
|
|
NM_006206.6(PDGFRA):c.1784T>C (p.Leu595Pro)
|
rs1723641220
|
|
NM_006206.6(PDGFRA):c.1821G>C (p.Val607=)
|
rs886059446
|
|
NM_006206.6(PDGFRA):c.1998G>C (p.Lys666Asn)
|
rs1723832515
|
|
NM_006206.6(PDGFRA):c.2040A>C (p.Gly680=)
|
rs773679384
|
|
NM_006206.6(PDGFRA):c.219T>C (p.Asn73=)
|
rs886059443
|
|
NM_006206.6(PDGFRA):c.2221C>T (p.Gln741Ter)
|
rs1724006429
|
|
NM_006206.6(PDGFRA):c.2429C>G (p.Ala810Gly)
|
|
|
NM_006206.6(PDGFRA):c.2574C>A (p.Pro858=)
|
rs771421611
|
|
NM_006206.6(PDGFRA):c.2674+6G>A
|
rs886059448
|
|
NM_006206.6(PDGFRA):c.2975C>T (p.Thr992Ile)
|
|
|
NM_006206.6(PDGFRA):c.3195G>A (p.Glu1065=)
|
rs1724822643
|
|
NM_006206.6(PDGFRA):c.3228C>G (p.Ile1076Met)
|
rs148629782
|
|
NM_006206.6(PDGFRA):c.480C>T (p.Thr160=)
|
rs1461385164
|
|
NM_006206.6(PDGFRA):c.577G>A (p.Val193Ile)
|
rs774431464
|
|
NM_006206.6(PDGFRA):c.853A>G (p.Ser285Gly)
|
rs541057765
|
|
NM_006206.6(PDGFRA):c.878G>A (p.Arg293His)
|
rs373948582
|
|
NM_006206.6(PDGFRA):c.954A>G (p.Lys318=)
|
rs886059444
|
|
NM_006206.6(PDGFRA):c.995T>C (p.Val332Ala)
|
rs878854837
|
|
NM_006218.4(PIK3CA):c.2075del (p.Cys692fs)
|
rs1724954436
|
|
NM_006218.4(PIK3CA):c.331A>G (p.Lys111Glu)
|
rs1057519933
|
|
NM_006218.4(PIK3CA):c.332A>G (p.Lys111Arg)
|
rs1057519935
|
|
NM_006218.4(PIK3CA):c.333G>C (p.Lys111Asn)
|
rs1057519934
|
|
NM_006312.6(NCOR2):c.5909C>A (p.Ser1970Tyr)
|
rs1593107841
|
|
NM_006494.4(ERF):c.228G>A (p.Met76Ile)
|
rs1599824091
|
|
NM_014953.5(DIS3):c.2335A>T (p.Ile779Phe)
|
rs1593835248
|
|
NM_015474.4(SAMHD1):c.259G>C (p.Glu87Gln)
|
rs1600394490
|
|
NM_016302.4(CRBN):c.1100A>T (p.Asn367Ile)
|
rs1575079076
|
|
NM_017636.4(TRPM4):c.2283_2294del (p.759_762CGGR[1])
|
rs113100797
|
|
NM_022114.4(PRDM16):c.2372G>A (p.Gly791Asp)
|
rs1569732779
|
|
NM_022552.5(DNMT3A):c.7G>T (p.Ala3Ser)
|
rs745380962
|
|
NM_032578.4(MYPN):c.100C>A (p.Arg34=)
|
|
|
NM_032578.4(MYPN):c.1011A>G (p.Gly337=)
|
|
|
NM_032578.4(MYPN):c.1016A>T (p.Tyr339Phe)
|
rs199476404
|
|
NM_032578.4(MYPN):c.1019C>A (p.Ser340Tyr)
|
rs777080663
|
|
NM_032578.4(MYPN):c.101G>A (p.Arg34Gln)
|
rs730880168
|
|
NM_032578.4(MYPN):c.1020C>T (p.Ser340=)
|
rs367548508
|
|
NM_032578.4(MYPN):c.1033A>G (p.Asn345Asp)
|
rs757786796
|
|
NM_032578.4(MYPN):c.104C>T (p.Ala35Val)
|
|
|
NM_032578.4(MYPN):c.1053G>A (p.Ser351=)
|
|
|
NM_032578.4(MYPN):c.1053G>T (p.Ser351=)
|
rs371306075
|
|
NM_032578.4(MYPN):c.1056T>C (p.Thr352=)
|
rs2134066838
|
|
NM_032578.4(MYPN):c.105G>C (p.Ala35=)
|
|
|
NM_032578.4(MYPN):c.1078+17T>G
|
|
|
NM_032578.4(MYPN):c.1078G>A (p.Gly360Arg)
|
rs1248269134
|
|
NM_032578.4(MYPN):c.1079-17T>C
|
|
|
NM_032578.4(MYPN):c.1079-2A>G
|
|
|
NM_032578.4(MYPN):c.1079-8T>C
|
|
|
NM_032578.4(MYPN):c.1081G>A (p.Val361Ile)
|
rs527628617
|
|
NM_032578.4(MYPN):c.1081G>C (p.Val361Leu)
|
rs527628617
|
|
NM_032578.4(MYPN):c.1087T>G (p.Ser363Ala)
|
rs775098267
|
|
NM_032578.4(MYPN):c.1089T>C (p.Ser363=)
|
rs1589553096
|
|
NM_032578.4(MYPN):c.1093G>A (p.Asp365Asn)
|
|
|
NM_032578.4(MYPN):c.1101A>C (p.Glu367Asp)
|
rs2042648604
|
|
NM_032578.4(MYPN):c.1110T>C (p.Pro370=)
|
rs1554842258
|
|
NM_032578.4(MYPN):c.1124T>C (p.Met375Thr)
|
|
|
NM_032578.4(MYPN):c.1130+5T>C
|
|
|
NM_032578.4(MYPN):c.1131-19T>C
|
rs2134089256
|
|
NM_032578.4(MYPN):c.1131-20A>G
|
|
|
NM_032578.4(MYPN):c.1147G>A (p.Glu383Lys)
|
rs749334556
|
|
NM_032578.4(MYPN):c.1161T>A (p.Pro387=)
|
|
|
NM_032578.4(MYPN):c.1164C>T (p.Pro388=)
|
rs2134089520
|
|
NM_032578.4(MYPN):c.1170C>T (p.Thr390=)
|
|
|
NM_032578.4(MYPN):c.1180A>T (p.Ile394Phe)
|
rs2134089584
|
|
NM_032578.4(MYPN):c.1186C>G (p.Pro396Ala)
|
rs1554842709
|
|
NM_032578.4(MYPN):c.1188_1196dup (p.Ala397_Pro399dup)
|
rs2042706109
|
|
NM_032578.4(MYPN):c.119A>T (p.Asn40Ile)
|
rs2133993599
|
|
NM_032578.4(MYPN):c.1204C>T (p.Gln402Ter)
|
|
|
NM_032578.4(MYPN):c.1217C>T (p.Ala406Val)
|
|
|
NM_032578.4(MYPN):c.1227T>G (p.Arg409=)
|
|
|
NM_032578.4(MYPN):c.1231G>A (p.Ala411Thr)
|
|
|
NM_032578.4(MYPN):c.1246-16G>T
|
rs778467080
|
|
NM_032578.4(MYPN):c.1246-5del
|
rs2134097247
|
|
NM_032578.4(MYPN):c.1253G>A (p.Ser418Asn)
|
rs1008949819
|
|
NM_032578.4(MYPN):c.1259C>A (p.Thr420Asn)
|
rs2042741498
|
|
NM_032578.4(MYPN):c.1266C>T (p.Tyr422=)
|
|
|
NM_032578.4(MYPN):c.1273G>T (p.Gly425Ter)
|
rs777033025
|
|
NM_032578.4(MYPN):c.1280A>G (p.Asp427Gly)
|
rs2042741903
|
|
NM_032578.4(MYPN):c.128A>G (p.His43Arg)
|
rs752439535
|
|
NM_032578.4(MYPN):c.1292T>C (p.Ile431Thr)
|
|
|
NM_032578.4(MYPN):c.1295T>C (p.Ile432Thr)
|
rs1589558640
|
|
NM_032578.4(MYPN):c.1304C>T (p.Pro435Leu)
|
rs1416910479
|
|
NM_032578.4(MYPN):c.1305T>A (p.Pro435=)
|
rs750672797
|
|
NM_032578.4(MYPN):c.1305T>G (p.Pro435=)
|
|
|
NM_032578.4(MYPN):c.1308G>A (p.Val436=)
|
|
|
NM_032578.4(MYPN):c.1317+13T>C
|
rs2042742828
|
|
NM_032578.4(MYPN):c.1317+17T>A
|
|
|
NM_032578.4(MYPN):c.1317+17T>C
|
|
|
NM_032578.4(MYPN):c.1317+1G>A
|
rs766502564
|
|
NM_032578.4(MYPN):c.1318-12T>A
|
|
|
NM_032578.4(MYPN):c.1318-20C>T
|
rs2042918490
|
|
NM_032578.4(MYPN):c.1318-6T>C
|
rs1362864653
|
|
NM_032578.4(MYPN):c.1318-8_1318-6del
|
|
|
NM_032578.4(MYPN):c.132C>A (p.Phe44Leu)
|
rs2133993682
|
|
NM_032578.4(MYPN):c.1335A>T (p.Ser445=)
|
rs1554844105
|
|
NM_032578.4(MYPN):c.1339T>A (p.Ser447Thr)
|
|
|
NM_032578.4(MYPN):c.133G>A (p.Gly45Ser)
|
rs1297861595
|
|
NM_032578.4(MYPN):c.1345G>A (p.Gly449Ser)
|
rs1279495838
|
|
NM_032578.4(MYPN):c.1345G>T (p.Gly449Cys)
|
rs1279495838
|
|
NM_032578.4(MYPN):c.1346G>T (p.Gly449Val)
|
|
|
NM_032578.4(MYPN):c.1362T>G (p.Phe454Leu)
|
|
|
NM_032578.4(MYPN):c.1371A>G (p.Arg457=)
|
|
|
NM_032578.4(MYPN):c.1374A>G (p.Val458=)
|
rs538038536
|
|
NM_032578.4(MYPN):c.1375A>G (p.Lys459Glu)
|
rs2042920077
|
|
NM_032578.4(MYPN):c.1378G>C (p.Gly460Arg)
|
rs1047977459
|
|
NM_032578.4(MYPN):c.1381G>A (p.Ala461Thr)
|
|
|
NM_032578.4(MYPN):c.1386A>T (p.Pro462=)
|
|
|
NM_032578.4(MYPN):c.138T>C (p.Ser46=)
|
rs1010889936
|
|
NM_032578.4(MYPN):c.13A>C (p.Ser5Arg)
|
rs1554839140
|
|
NM_032578.4(MYPN):c.1407T>C (p.Tyr469=)
|
|
|
NM_032578.4(MYPN):c.140C>G (p.Pro47Arg)
|
rs777446804
|
|
NM_032578.4(MYPN):c.1411G>A (p.Glu471Lys)
|
rs2042921189
|
|
NM_032578.4(MYPN):c.1416G>A (p.Gly472=)
|
|
|
NM_032578.4(MYPN):c.1418C>G (p.Thr473Ser)
|
rs2134137254
|
|
NM_032578.4(MYPN):c.1424T>C (p.Ile475Thr)
|
rs754505802
|
|
NM_032578.4(MYPN):c.1426G>A (p.Glu476Lys)
|
rs2134137320
|
|
NM_032578.4(MYPN):c.1433C>T (p.Ser478Phe)
|
rs2042921597
|
|
NM_032578.4(MYPN):c.1435C>A (p.Pro479Thr)
|
|
|
NM_032578.4(MYPN):c.1441T>G (p.Phe481Val)
|
|
|
NM_032578.4(MYPN):c.1445G>A (p.Arg482Lys)
|
rs773665854
|
|
NM_032578.4(MYPN):c.144T>C (p.Ser48=)
|
|
|
NM_032578.4(MYPN):c.1455G>A (p.Gln485=)
|
rs954974822
|
|
NM_032578.4(MYPN):c.1459+19T>C
|
|
|
NM_032578.4(MYPN):c.1459+8_1459+11del
|
|
|
NM_032578.4(MYPN):c.1460-13T>C
|
|
|
NM_032578.4(MYPN):c.1465C>T (p.Arg489Ter)
|
|
|
NM_032578.4(MYPN):c.1473G>A (p.Met491Ile)
|
rs1437786609
|
|
NM_032578.4(MYPN):c.1474G>A (p.Ala492Thr)
|
rs2134151595
|
|
NM_032578.4(MYPN):c.1475C>T (p.Ala492Val)
|
|
|
NM_032578.4(MYPN):c.1482A>C (p.Pro494=)
|
rs532744333
|
|
NM_032578.4(MYPN):c.1483+22_1483+26del
|
|
|
NM_032578.4(MYPN):c.1483+6G>A
|
rs775382618
|
|
NM_032578.4(MYPN):c.1483+9G>A
|
rs760851247
|
|
NM_032578.4(MYPN):c.151G>A (p.Ala51Thr)
|
|
|
NM_032578.4(MYPN):c.1521A>G (p.Ala507=)
|
rs2134165606
|
|
NM_032578.4(MYPN):c.1523A>G (p.Glu508Gly)
|
rs1554845333
|
|
NM_032578.4(MYPN):c.1548T>G (p.Thr516=)
|
rs1589577257
|
|
NM_032578.4(MYPN):c.154G>A (p.Glu52Lys)
|
rs2042243248
|
|
NM_032578.4(MYPN):c.1577G>T (p.Ser526Ile)
|
rs2134165829
|
|
NM_032578.4(MYPN):c.1578C>G (p.Ser526Arg)
|
rs533432953
|
|
NM_032578.4(MYPN):c.1578C>T (p.Ser526=)
|
|
|
NM_032578.4(MYPN):c.1584A>C (p.Ala528=)
|
rs1019522813
|
|
NM_032578.4(MYPN):c.1585C>T (p.Gln529Ter)
|
rs199476408
|
|
NM_032578.4(MYPN):c.1586A>C (p.Gln529Pro)
|
rs1158070956
|
|
NM_032578.4(MYPN):c.1588C>T (p.Leu530=)
|
|
|
NM_032578.4(MYPN):c.158G>A (p.Gly53Glu)
|
|
|
NM_032578.4(MYPN):c.1600+12T>A
|
rs2134166070
|
|
NM_032578.4(MYPN):c.1600+12_1600+13del
|
|
|
NM_032578.4(MYPN):c.1600+18C>T
|
|
|
NM_032578.4(MYPN):c.1602A>T (p.Gly534=)
|
rs2134167600
|
|
NM_032578.4(MYPN):c.1611C>T (p.Asp537=)
|
rs931476648
|
|
NM_032578.4(MYPN):c.1618AAC[3] (p.Asn541dup)
|
rs1428622009
|
|
NM_032578.4(MYPN):c.161G>C (p.Gly54Ala)
|
|
|
NM_032578.4(MYPN):c.163G>A (p.Gly55Arg)
|
rs2042243448
|
|
NM_032578.4(MYPN):c.1644C>T (p.Asn548=)
|
rs183523848
|
|
NM_032578.4(MYPN):c.1650C>T (p.Thr550=)
|
|
|
NM_032578.4(MYPN):c.1653C>T (p.Thr551=)
|
|
|
NM_032578.4(MYPN):c.1655A>G (p.Asn552Ser)
|
|
|
NM_032578.4(MYPN):c.1662A>T (p.Ala554=)
|
rs71584488
|
|
NM_032578.4(MYPN):c.1676A>C (p.Gln559Pro)
|
rs1187897430
|
|
NM_032578.4(MYPN):c.1681_1683del (p.Ser561del)
|
|
|
NM_032578.4(MYPN):c.1688C>T (p.Pro563Leu)
|
rs899747855
|
|
NM_032578.4(MYPN):c.1714C>G (p.Gln572Glu)
|
|
|
NM_032578.4(MYPN):c.1714del (p.Gln572fs)
|
|
|
NM_032578.4(MYPN):c.1717C>T (p.Pro573Ser)
|
rs779895608
|
|
NM_032578.4(MYPN):c.1719C>T (p.Pro573=)
|
|
|
NM_032578.4(MYPN):c.1720C>G (p.Pro574Ala)
|
|
|
NM_032578.4(MYPN):c.1721C>G (p.Pro574Arg)
|
rs1240696321
|
|
NM_032578.4(MYPN):c.1722C>A (p.Pro574=)
|
|
|
NM_032578.4(MYPN):c.1722C>T (p.Pro574=)
|
rs1003969153
|
|
NM_032578.4(MYPN):c.1722del (p.Lys575fs)
|
rs2134168183
|
|
NM_032578.4(MYPN):c.172G>A (p.Asp58Asn)
|
|
|
NM_032578.4(MYPN):c.1741G>T (p.Val581Phe)
|
rs1464184643
|
|
NM_032578.4(MYPN):c.1751A>G (p.Asn584Ser)
|
rs2043055172
|
|
NM_032578.4(MYPN):c.1776C>T (p.Ser592=)
|
|
|
NM_032578.4(MYPN):c.1781T>C (p.Ile594Thr)
|
|
|
NM_032578.4(MYPN):c.17T>C (p.Ile6Thr)
|
rs774766927
|
|
NM_032578.4(MYPN):c.1802A>G (p.Asn601Ser)
|
rs2043056360
|
|
NM_032578.4(MYPN):c.1805T>C (p.Leu602Pro)
|
rs779148735
|
|
NM_032578.4(MYPN):c.1830A>G (p.Glu610=)
|
rs769460067
|
|
NM_032578.4(MYPN):c.1831G>A (p.Ala611Thr)
|
rs199476409
|
|
NM_032578.4(MYPN):c.1845T>C (p.Ala615=)
|
|
|
NM_032578.4(MYPN):c.1864C>G (p.Gln622Glu)
|
rs1226400049
|
|
NM_032578.4(MYPN):c.1864C>T (p.Gln622Ter)
|
rs1226400049
|
|
NM_032578.4(MYPN):c.1865A>G (p.Gln622Arg)
|
rs2134169106
|
|
NM_032578.4(MYPN):c.1867A>T (p.Thr623Ser)
|
|
|
NM_032578.4(MYPN):c.186T>C (p.Asp62=)
|
rs374434233
|
|
NM_032578.4(MYPN):c.1875C>G (p.Pro625=)
|
rs2673793
|
|
NM_032578.4(MYPN):c.1887G>A (p.Gln629=)
|
rs1253237224
|
|
NM_032578.4(MYPN):c.1891A>G (p.Arg631Gly)
|
rs2134169305
|
|
NM_032578.4(MYPN):c.189T>C (p.Leu63=)
|
rs2133993954
|
|
NM_032578.4(MYPN):c.1910dup (p.Thr639fs)
|
rs2134169413
|
|
NM_032578.4(MYPN):c.1924C>T (p.Pro642Ser)
|
|
|
NM_032578.4(MYPN):c.1932C>A (p.Ser644=)
|
rs187664226
|
|
NM_032578.4(MYPN):c.194C>A (p.Ala65Asp)
|
rs147553723
|
|
NM_032578.4(MYPN):c.1951C>A (p.Pro651Thr)
|
|
|
NM_032578.4(MYPN):c.1952C>T (p.Pro651Leu)
|
|
|
NM_032578.4(MYPN):c.195C>A (p.Ala65=)
|
|
|
NM_032578.4(MYPN):c.195C>T (p.Ala65=)
|
|
|
NM_032578.4(MYPN):c.1973+1G>A
|
|
|
NM_032578.4(MYPN):c.1974-13G>C
|
|
|
NM_032578.4(MYPN):c.1974-1G>A
|
|
|
NM_032578.4(MYPN):c.1974-20C>T
|
|
|
NM_032578.4(MYPN):c.1974-3C>T
|
|
|
NM_032578.4(MYPN):c.1977T>C (p.Asp659=)
|
rs886039179
|
|
NM_032578.4(MYPN):c.1990C>T (p.Gln664Ter)
|
rs2134198422
|
|
NM_032578.4(MYPN):c.1999C>A (p.His667Asn)
|
rs1232931575
|
|
NM_032578.4(MYPN):c.2003A>T (p.Asn668Ile)
|
rs1554846764
|
|
NM_032578.4(MYPN):c.2015T>C (p.Leu672Pro)
|
rs750020097
|
|
NM_032578.4(MYPN):c.2018A>G (p.Glu673Gly)
|
|
|
NM_032578.4(MYPN):c.2022A>T (p.Gln674His)
|
rs1589587222
|
|
NM_032578.4(MYPN):c.2025C>T (p.His675=)
|
|
|
NM_032578.4(MYPN):c.2028A>G (p.Gln676=)
|
rs876657537
|
|
NM_032578.4(MYPN):c.2042C>G (p.Pro681Arg)
|
rs202084832
|
|
NM_032578.4(MYPN):c.2048C>T (p.Ser683Leu)
|
rs1278724548
|
|
NM_032578.4(MYPN):c.2049A>C (p.Ser683=)
|
|
|
NM_032578.4(MYPN):c.204C>G (p.Ser68Arg)
|
|
|
NM_032578.4(MYPN):c.204C>T (p.Ser68=)
|
rs1035588500
|
|
NM_032578.4(MYPN):c.2065C>T (p.Pro689Ser)
|
|
|
NM_032578.4(MYPN):c.2066C>T (p.Pro689Leu)
|
rs1554846787
|
|
NM_032578.4(MYPN):c.2067T>A (p.Pro689=)
|
rs2134198866
|
|
NM_032578.4(MYPN):c.2074A>G (p.Met692Val)
|
rs1589587340
|
|
NM_032578.4(MYPN):c.2076G>T (p.Met692Ile)
|
|
|
NM_032578.4(MYPN):c.2084del (p.Val694_Leu695insTer)
|
|
|
NM_032578.4(MYPN):c.2089T>G (p.Ser697Ala)
|
rs2043187783
|
|
NM_032578.4(MYPN):c.2106G>T (p.Ala702=)
|
rs560387426
|
|
NM_032578.4(MYPN):c.2108T>C (p.Val703Ala)
|
rs2043188479
|
|
NM_032578.4(MYPN):c.211G>T (p.Glu71Ter)
|
|
|
NM_032578.4(MYPN):c.2126A>G (p.Gln709Arg)
|
rs2134199222
|
|
NM_032578.4(MYPN):c.2134G>T (p.Ala712Ser)
|
|
|
NM_032578.4(MYPN):c.2151G>C (p.Thr717=)
|
|
|
NM_032578.4(MYPN):c.2157C>T (p.Ser719=)
|
|
|
NM_032578.4(MYPN):c.2164C>G (p.Arg722Gly)
|
rs749716608
|
|
NM_032578.4(MYPN):c.2165G>A (p.Arg722Gln)
|
rs530701227
|
|
NM_032578.4(MYPN):c.2169G>A (p.Pro723=)
|
rs149357638
|
|
NM_032578.4(MYPN):c.216A>G (p.Leu72=)
|
rs960256597
|
|
NM_032578.4(MYPN):c.217G>C (p.Asp73His)
|
rs2042244267
|
|
NM_032578.4(MYPN):c.2183C>A (p.Pro728His)
|
rs570682390
|
|
NM_032578.4(MYPN):c.2183C>T (p.Pro728Leu)
|
rs570682390
|
|
NM_032578.4(MYPN):c.2186C>T (p.Ser729Phe)
|
rs1210466686
|
|
NM_032578.4(MYPN):c.2190G>T (p.Thr730=)
|
|
|
NM_032578.4(MYPN):c.2199C>A (p.Thr733=)
|
|
|
NM_032578.4(MYPN):c.219C>A (p.Asp73Glu)
|
rs960869945
|
|
NM_032578.4(MYPN):c.219C>T (p.Asp73=)
|
|
|
NM_032578.4(MYPN):c.21A>C (p.Glu7Asp)
|
rs759945622
|
|
NM_032578.4(MYPN):c.2216C>T (p.Pro739Leu)
|
rs2134199742
|
|
NM_032578.4(MYPN):c.2219C>T (p.Ser740Phe)
|
|
|
NM_032578.4(MYPN):c.2228C>A (p.Pro743Gln)
|
rs138583865
|
|
NM_032578.4(MYPN):c.2229G>C (p.Pro743=)
|
rs148360410
|
|
NM_032578.4(MYPN):c.222A>C (p.Glu74Asp)
|
rs2042244450
|
|
NM_032578.4(MYPN):c.2235C>T (p.Phe745=)
|
|
|
NM_032578.4(MYPN):c.2246G>C (p.Ser749Thr)
|
|
|
NM_032578.4(MYPN):c.2251C>T (p.Pro751Ser)
|
|
|
NM_032578.4(MYPN):c.225T>C (p.Ser75=)
|
|
|
NM_032578.4(MYPN):c.2265G>C (p.Gln755His)
|
rs2043192248
|
|
NM_032578.4(MYPN):c.2280A>G (p.Lys760=)
|
rs2134200136
|
|
NM_032578.4(MYPN):c.2294T>C (p.Val765Ala)
|
rs759184337
|
|
NM_032578.4(MYPN):c.2294T>G (p.Val765Gly)
|
rs759184337
|
|
NM_032578.4(MYPN):c.2297C>G (p.Ser766Cys)
|
rs2043192805
|
|
NM_032578.4(MYPN):c.2299C>T (p.His767Tyr)
|
rs2134200267
|
|
NM_032578.4(MYPN):c.22G>A (p.Ala8Thr)
|
rs2042239747
|
|
NM_032578.4(MYPN):c.22G>C (p.Ala8Pro)
|
rs2042239747
|
|
NM_032578.4(MYPN):c.2302C>G (p.Pro768Ala)
|
rs772356751
|
|
NM_032578.4(MYPN):c.2314A>G (p.Thr772Ala)
|
rs1060503577
|
|
NM_032578.4(MYPN):c.2317A>G (p.Lys773Glu)
|
rs760331604
|
|
NM_032578.4(MYPN):c.2319A>T (p.Lys773Asn)
|
rs1468437257
|
|
NM_032578.4(MYPN):c.2322T>A (p.Ser774=)
|
|
|
NM_032578.4(MYPN):c.2337C>T (p.Ser779=)
|
rs2134200452
|
|
NM_032578.4(MYPN):c.2344A>G (p.Asn782Asp)
|
rs765596732
|
|
NM_032578.4(MYPN):c.2351C>G (p.Pro784Arg)
|
|
|
NM_032578.4(MYPN):c.2353C>T (p.Leu785Phe)
|
rs2043194035
|
|
NM_032578.4(MYPN):c.2354T>A (p.Leu785His)
|
rs758614811
|
|
NM_032578.4(MYPN):c.2362G>C (p.Gly788Arg)
|
rs2043194185
|
|
NM_032578.4(MYPN):c.2370A>G (p.Thr790=)
|
rs2134200602
|
|
NM_032578.4(MYPN):c.237A>G (p.Ala79=)
|
|
|
NM_032578.4(MYPN):c.2384C>G (p.Pro795Arg)
|
rs747076390
|
|
NM_032578.4(MYPN):c.2385A>G (p.Pro795=)
|
|
|
NM_032578.4(MYPN):c.2388A>G (p.Pro796=)
|
|
|
NM_032578.4(MYPN):c.239G>A (p.Arg80Lys)
|
rs1564647073
|
|
NM_032578.4(MYPN):c.2407A>G (p.Ser803Gly)
|
rs1479692619
|
|
NM_032578.4(MYPN):c.2409C>A (p.Ser803Arg)
|
rs3814182
|
|
NM_032578.4(MYPN):c.2409C>G (p.Ser803Arg)
|
rs3814182
|
|
NM_032578.4(MYPN):c.2409C>T (p.Ser803=)
|
|
|
NM_032578.4(MYPN):c.2421T>C (p.Phe807=)
|
|
|
NM_032578.4(MYPN):c.2427C>T (p.Pro809=)
|
|
|
NM_032578.4(MYPN):c.2429G>C (p.Arg810Pro)
|
rs1021994218
|
|
NM_032578.4(MYPN):c.242T>C (p.Leu81Pro)
|
|
|
NM_032578.4(MYPN):c.2435T>C (p.Val812Ala)
|
rs1131691857
|
|
NM_032578.4(MYPN):c.243G>A (p.Leu81=)
|
rs2133994150
|
|
NM_032578.4(MYPN):c.2440C>A (p.Pro814Thr)
|
rs2134201155
|
|
NM_032578.4(MYPN):c.2442A>T (p.Pro814=)
|
|
|
NM_032578.4(MYPN):c.2443A>G (p.Ile815Val)
|
rs876657922
|
|
NM_032578.4(MYPN):c.2463C>T (p.Ser821=)
|
rs2134201312
|
|
NM_032578.4(MYPN):c.2467A>G (p.Ile823Val)
|
rs2134201357
|
|
NM_032578.4(MYPN):c.2474A>G (p.Asn825Ser)
|
|
|
NM_032578.4(MYPN):c.2484T>C (p.Ala828=)
|
|
|
NM_032578.4(MYPN):c.2487C>T (p.Phe829=)
|
rs2043197476
|
|
NM_032578.4(MYPN):c.2495C>T (p.Ser832Phe)
|
rs1416050336
|
|
NM_032578.4(MYPN):c.2502G>T (p.Leu834=)
|
|
|
NM_032578.4(MYPN):c.2503C>A (p.Pro835Thr)
|
rs1196958004
|
|
NM_032578.4(MYPN):c.2519T>C (p.Ile840Thr)
|
rs1554846944
|
|
NM_032578.4(MYPN):c.2521C>A (p.Pro841Thr)
|
rs199476410
|
|
NM_032578.4(MYPN):c.2527A>T (p.Thr843Ser)
|
rs2134201674
|
|
NM_032578.4(MYPN):c.2530A>G (p.Asn844Asp)
|
rs2134201696
|
|
NM_032578.4(MYPN):c.2540G>A (p.Gly847Glu)
|
rs181848049
|
|
NM_032578.4(MYPN):c.2550A>G (p.Arg850=)
|
rs886039109
|
|
NM_032578.4(MYPN):c.2564+16G>T
|
rs1473150031
|
|
NM_032578.4(MYPN):c.2565-17G>A
|
rs1334366122
|
|
NM_032578.4(MYPN):c.2565-19G>C
|
|
|
NM_032578.4(MYPN):c.2565-2A>G
|
rs746850858
|
|
NM_032578.4(MYPN):c.2569T>A (p.Ser857Thr)
|
|
|
NM_032578.4(MYPN):c.2573A>G (p.Gln858Arg)
|
rs2134204422
|
|
NM_032578.4(MYPN):c.2582C>T (p.Ala861Val)
|
|
|
NM_032578.4(MYPN):c.2598_2703+9delinsCAACAATC
|
|
|
NM_032578.4(MYPN):c.2601T>C (p.Ser867=)
|
rs771473380
|
|
NM_032578.4(MYPN):c.2617G>T (p.Asp873Tyr)
|
rs767769379
|
|
NM_032578.4(MYPN):c.2622T>C (p.Asp874=)
|
|
|
NM_032578.4(MYPN):c.2623A>G (p.Asn875Asp)
|
rs760957828
|
|
NM_032578.4(MYPN):c.2628T>A (p.Ile876=)
|
|
|
NM_032578.4(MYPN):c.2630G>A (p.Arg877His)
|
rs371221569
|
|
NM_032578.4(MYPN):c.2644G>T (p.Ala882Ser)
|
rs199476411
|
|
NM_032578.4(MYPN):c.2659T>C (p.Leu887=)
|
rs2134204846
|
|
NM_032578.4(MYPN):c.2662G>A (p.Gly888Arg)
|
|
|
NM_032578.4(MYPN):c.2689A>T (p.Arg897Ter)
|
rs2134204980
|
|
NM_032578.4(MYPN):c.2702A>C (p.Gln901Pro)
|
|
|
NM_032578.4(MYPN):c.2703+17_2703+18delinsCG
|
rs2134205089
|
|
NM_032578.4(MYPN):c.2703+3A>T
|
|
|
NM_032578.4(MYPN):c.2704-17G>C
|
|
|
NM_032578.4(MYPN):c.2704-18C>T
|
|
|
NM_032578.4(MYPN):c.2704-1G>A
|
rs865921466
|
|
NM_032578.4(MYPN):c.2704-7T>G
|
rs1589602602
|
|
NM_032578.4(MYPN):c.2726A>C (p.Glu909Ala)
|
rs1554849161
|
|
NM_032578.4(MYPN):c.2726A>G (p.Glu909Gly)
|
|
|
NM_032578.4(MYPN):c.2733G>A (p.Arg911=)
|
rs1060504954
|
|
NM_032578.4(MYPN):c.2736G>A (p.Leu912=)
|
rs1057523127
|
|
NM_032578.4(MYPN):c.2755C>T (p.Arg919Cys)
|
rs189478865
|
|
NM_032578.4(MYPN):c.2756G>A (p.Arg919His)
|
rs193022869
|
|
NM_032578.4(MYPN):c.2756G>T (p.Arg919Leu)
|
rs193022869
|
|
NM_032578.4(MYPN):c.2765G>A (p.Arg922His)
|
rs2043465909
|
|
NM_032578.4(MYPN):c.2794A>G (p.Ile932Val)
|
rs2134257485
|
|
NM_032578.4(MYPN):c.2799A>G (p.Gln933=)
|
|
|
NM_032578.4(MYPN):c.2802T>C (p.His934=)
|
|
|
NM_032578.4(MYPN):c.2808G>T (p.Glu936Asp)
|
rs753424932
|
|
NM_032578.4(MYPN):c.2815A>G (p.Thr939Ala)
|
|
|
NM_032578.4(MYPN):c.2817G>A (p.Thr939=)
|
|
|
NM_032578.4(MYPN):c.2817G>C (p.Thr939=)
|
|
|
NM_032578.4(MYPN):c.2829T>G (p.Ile943Met)
|
rs2043467180
|
|
NM_032578.4(MYPN):c.2847G>A (p.Lys949=)
|
rs2134257828
|
|
NM_032578.4(MYPN):c.2850A>C (p.Arg950Ser)
|
|
|
NM_032578.4(MYPN):c.2859C>T (p.His953=)
|
|
|
NM_032578.4(MYPN):c.2862C>A (p.Phe954Leu)
|
rs199476413
|
|
NM_032578.4(MYPN):c.2863C>T (p.Arg955Trp)
|
rs149887823
|
|
NM_032578.4(MYPN):c.2871A>C (p.Thr957=)
|
|
|
NM_032578.4(MYPN):c.2873A>G (p.Glu958Gly)
|
rs1417809776
|
|
NM_032578.4(MYPN):c.2876G>C (p.Gly959Ala)
|
rs771893315
|
|
NM_032578.4(MYPN):c.2879C>T (p.Ser960Phe)
|
|
|
NM_032578.4(MYPN):c.2882C>T (p.Pro961Leu)
|
rs864621995
|
|
NM_032578.4(MYPN):c.2895C>T (p.Thr965=)
|
rs2134258213
|
|
NM_032578.4(MYPN):c.2917G>C (p.Val973Leu)
|
rs1223935683
|
|
NM_032578.4(MYPN):c.2925+11T>G
|
|
|
NM_032578.4(MYPN):c.2925G>T (p.Lys975Asn)
|
rs2134258333
|
|
NM_032578.4(MYPN):c.2926-17A>T
|
|
|
NM_032578.4(MYPN):c.2926G>T (p.Val976Phe)
|
rs943422668
|
|
NM_032578.4(MYPN):c.2949G>A (p.Lys983=)
|
rs375015526
|
|
NM_032578.4(MYPN):c.2952G>A (p.Gln984=)
|
|
|
NM_032578.4(MYPN):c.295C>T (p.Arg99Ter)
|
rs756823228
|
|
NM_032578.4(MYPN):c.2963G>A (p.Arg988Lys)
|
rs2134277689
|
|
NM_032578.4(MYPN):c.2967T>C (p.Asn989=)
|
rs751078168
|
|
NM_032578.4(MYPN):c.2968G>T (p.Glu990Ter)
|
rs755507922
|
|
NM_032578.4(MYPN):c.2986C>A (p.Arg996=)
|
rs753094063
|
|
NM_032578.4(MYPN):c.2986C>T (p.Arg996Ter)
|
|
|
NM_032578.4(MYPN):c.2988A>G (p.Arg996=)
|
rs1589607174
|
|
NM_032578.4(MYPN):c.2998G>A (p.Gly1000Arg)
|
|
|
NM_032578.4(MYPN):c.2999G>A (p.Gly1000Glu)
|
rs2134277900
|
|
NM_032578.4(MYPN):c.3000G>A (p.Gly1000=)
|
rs757445753
|
|
NM_032578.4(MYPN):c.3003A>G (p.Thr1001=)
|
rs2134277927
|
|
NM_032578.4(MYPN):c.3008C>T (p.Ser1003Phe)
|
|
|
NM_032578.4(MYPN):c.3017T>C (p.Ile1006Thr)
|
rs864622711
|
|
NM_032578.4(MYPN):c.3032G>A (p.Ser1011Asn)
|
|
|
NM_032578.4(MYPN):c.3048C>T (p.Asn1016=)
|
|
|
NM_032578.4(MYPN):c.3054C>T (p.Thr1018=)
|
|
|
NM_032578.4(MYPN):c.3057del (p.Met1020fs)
|
rs2134278222
|
|
NM_032578.4(MYPN):c.3063A>G (p.Ala1021=)
|
|
|
NM_032578.4(MYPN):c.3068A>G (p.Asn1023Ser)
|
rs905631355
|
|
NM_032578.4(MYPN):c.3075+13G>C
|
rs1271146904
|
|
NM_032578.4(MYPN):c.3075+15T>C
|
|
|
NM_032578.4(MYPN):c.3075+5_3075+13del
|
rs864622652
|
|
NM_032578.4(MYPN):c.3076-17C>G
|
rs749100162
|
|
NM_032578.4(MYPN):c.3076-17C>T
|
|
|
NM_032578.4(MYPN):c.3076-4T>A
|
|
|
NM_032578.4(MYPN):c.307G>A (p.Asp103Asn)
|
rs2042246065
|
|
NM_032578.4(MYPN):c.3091T>C (p.Ser1031Pro)
|
rs2134281687
|
|
NM_032578.4(MYPN):c.3099C>G (p.His1033Gln)
|
|
|
NM_032578.4(MYPN):c.3099C>T (p.His1033=)
|
rs1486921301
|
|
NM_032578.4(MYPN):c.3107T>C (p.Val1036Ala)
|
rs1554850184
|
|
NM_032578.4(MYPN):c.3116T>G (p.Leu1039Trp)
|
|
|
NM_032578.4(MYPN):c.3122T>A (p.Ile1041Asn)
|
rs754227127
|
|
NM_032578.4(MYPN):c.3127del (p.Ser1043fs)
|
rs1589608098
|
|
NM_032578.4(MYPN):c.3131G>T (p.Arg1044Leu)
|
|
|
NM_032578.4(MYPN):c.3137C>T (p.Thr1046Ile)
|
rs1589608140
|
|
NM_032578.4(MYPN):c.3138C>T (p.Thr1046=)
|
rs2043589814
|
|
NM_032578.4(MYPN):c.3146G>A (p.Gly1049Asp)
|
rs878855165
|
|
NM_032578.4(MYPN):c.3158+14G>A
|
rs2043590750
|
|
NM_032578.4(MYPN):c.3158+18_3158+19del
|
|
|
NM_032578.4(MYPN):c.3158+6G>T
|
|
|
NM_032578.4(MYPN):c.3158+9A>T
|
|
|
NM_032578.4(MYPN):c.3159-18A>G
|
rs2134289672
|
|
NM_032578.4(MYPN):c.3169C>T (p.Arg1057Ter)
|
rs1057519572
|
|
NM_032578.4(MYPN):c.3170G>A (p.Arg1057Gln)
|
rs150414382
|
|
NM_032578.4(MYPN):c.3186C>T (p.Asp1062=)
|
|
|
NM_032578.4(MYPN):c.3193C>A (p.Pro1065Thr)
|
rs1423549696
|
|
NM_032578.4(MYPN):c.3195C>T (p.Pro1065=)
|
|
|
NM_032578.4(MYPN):c.3197T>C (p.Leu1066Pro)
|
rs2043626849
|
|
NM_032578.4(MYPN):c.3205C>A (p.Arg1069Ser)
|
rs368448794
|
|
NM_032578.4(MYPN):c.3205C>T (p.Arg1069Cys)
|
rs368448794
|
|
NM_032578.4(MYPN):c.3206G>T (p.Arg1069Leu)
|
rs763362861
|
|
NM_032578.4(MYPN):c.3207C>T (p.Arg1069=)
|
|
|
NM_032578.4(MYPN):c.3214C>T (p.Arg1072Ter)
|
rs1057519573
|
|
NM_032578.4(MYPN):c.3237T>C (p.Pro1079=)
|
rs2134290278
|
|
NM_032578.4(MYPN):c.3240G>A (p.Gly1080=)
|
rs2134290293
|
|
NM_032578.4(MYPN):c.3244_3245dup (p.Met1082fs)
|
|
|
NM_032578.4(MYPN):c.3245T>C (p.Met1082Thr)
|
|
|
NM_032578.4(MYPN):c.3247G>A (p.Val1083Ile)
|
rs765335692
|
|
NM_032578.4(MYPN):c.3262C>T (p.Arg1088Cys)
|
rs372824930
|
|
NM_032578.4(MYPN):c.3267C>T (p.Leu1089=)
|
|
|
NM_032578.4(MYPN):c.3271C>T (p.Arg1091Trp)
|
rs754707304
|
|
NM_032578.4(MYPN):c.3285+18T>C
|
|
|
NM_032578.4(MYPN):c.3285+20C>A
|
|
|
NM_032578.4(MYPN):c.3285+3A>G
|
|
|
NM_032578.4(MYPN):c.3286-10T>C
|
rs2134299174
|
|
NM_032578.4(MYPN):c.3286-17G>A
|
|
|
NM_032578.4(MYPN):c.3286-18T>C
|
|
|
NM_032578.4(MYPN):c.3286-18_3286-17insA
|
|
|
NM_032578.4(MYPN):c.329A>C (p.Asn110Thr)
|
rs1060503575
|
|
NM_032578.4(MYPN):c.3301C>A (p.Pro1101Thr)
|
rs1284303981
|
|
NM_032578.4(MYPN):c.3301C>T (p.Pro1101Ser)
|
|
|
NM_032578.4(MYPN):c.3302C>T (p.Pro1101Leu)
|
rs2043669159
|
|
NM_032578.4(MYPN):c.3306G>A (p.Pro1102=)
|
rs771521427
|
|
NM_032578.4(MYPN):c.3306G>T (p.Pro1102=)
|
rs771521427
|
|
NM_032578.4(MYPN):c.3323T>G (p.Leu1108Arg)
|
rs1035710752
|
|
NM_032578.4(MYPN):c.3327_3328del (p.Asn1109fs)
|
|
|
NM_032578.4(MYPN):c.3335C>A (p.Pro1112His)
|
rs71534278
|
|
NM_032578.4(MYPN):c.3344C>T (p.Pro1115Leu)
|
|
|
NM_032578.4(MYPN):c.3349G>T (p.Ala1117Ser)
|
|
|
NM_032578.4(MYPN):c.3354C>G (p.Ser1118=)
|
rs1589611936
|
|
NM_032578.4(MYPN):c.3382G>A (p.Val1128Ile)
|
rs2043671303
|
|
NM_032578.4(MYPN):c.3385C>A (p.His1129Asn)
|
rs952331931
|
|
NM_032578.4(MYPN):c.3386A>G (p.His1129Arg)
|
rs755783155
|
|
NM_032578.4(MYPN):c.3403_3404del (p.Pro1135fs)
|
rs2134300034
|
|
NM_032578.4(MYPN):c.3409dup (p.Thr1137fs)
|
|
|
NM_032578.4(MYPN):c.340G>C (p.Glu114Gln)
|
|
|
NM_032578.4(MYPN):c.3414G>A (p.Gln1138=)
|
|
|
NM_032578.4(MYPN):c.3415C>T (p.Arg1139Cys)
|
|
|
NM_032578.4(MYPN):c.3416G>T (p.Arg1139Leu)
|
rs531222847
|
|
NM_032578.4(MYPN):c.3417C>G (p.Arg1139=)
|
rs144488384
|
|
NM_032578.4(MYPN):c.3423A>G (p.Ala1141=)
|
rs776844468
|
|
NM_032578.4(MYPN):c.3431A>G (p.Tyr1144Cys)
|
rs1589612099
|
|
NM_032578.4(MYPN):c.3440T>C (p.Ile1147Thr)
|
rs201600440
|
|
NM_032578.4(MYPN):c.3442G>A (p.Ala1148Thr)
|
rs200390297
|
|
NM_032578.4(MYPN):c.3442G>T (p.Ala1148Ser)
|
rs200390297
|
|
NM_032578.4(MYPN):c.3467C>A (p.Ser1156Tyr)
|
|
|
NM_032578.4(MYPN):c.3476T>A (p.Leu1159Gln)
|
rs1422495386
|
|
NM_032578.4(MYPN):c.3484T>C (p.Ser1162Pro)
|
rs2134300719
|
|
NM_032578.4(MYPN):c.3485C>T (p.Ser1162Phe)
|
|
|
NM_032578.4(MYPN):c.3493+15_3493+20del
|
rs11279655
|
|
NM_032578.4(MYPN):c.3493+6G>A
|
rs750903219
|
|
NM_032578.4(MYPN):c.3493+9T>C
|
rs2134300845
|
|
NM_032578.4(MYPN):c.3493+9T>G
|
|
|
NM_032578.4(MYPN):c.3494-14C>T
|
rs776204291
|
|
NM_032578.4(MYPN):c.3494-14del
|
rs752408270
|
|
NM_032578.4(MYPN):c.3494-15C>T
|
|
|
NM_032578.4(MYPN):c.3494-6G>A
|
rs768274852
|
|
NM_032578.4(MYPN):c.3494-9C>T
|
|
|
NM_032578.4(MYPN):c.34A>G (p.Ile12Val)
|
rs1564646814
|
|
NM_032578.4(MYPN):c.3512C>T (p.Ala1171Val)
|
rs2043718976
|
|
NM_032578.4(MYPN):c.3514C>T (p.Pro1172Ser)
|
|
|
NM_032578.4(MYPN):c.3518T>C (p.Val1173Ala)
|
rs781710211
|
|
NM_032578.4(MYPN):c.3522C>T (p.Ile1174=)
|
|
|
NM_032578.4(MYPN):c.3540C>A (p.Asn1180Lys)
|
rs2134311033
|
|
NM_032578.4(MYPN):c.3548T>C (p.Val1183Ala)
|
rs878855166
|
|
NM_032578.4(MYPN):c.3552C>G (p.Pro1184=)
|
rs749396604
|
|
NM_032578.4(MYPN):c.3561C>T (p.His1187=)
|
rs1386215092
|
|
NM_032578.4(MYPN):c.3569G>C (p.Arg1190Thr)
|
rs761506496
|
|
NM_032578.4(MYPN):c.356A>G (p.Gln119Arg)
|
rs1338413507
|
|
NM_032578.4(MYPN):c.3570A>C (p.Arg1190Ser)
|
rs373439318
|
|
NM_032578.4(MYPN):c.3576G>A (p.Glu1192=)
|
rs1487958900
|
|
NM_032578.4(MYPN):c.3577T>A (p.Cys1193Ser)
|
|
|
NM_032578.4(MYPN):c.3586A>G (p.Ile1196Val)
|
rs375595742
|
|
NM_032578.4(MYPN):c.3592A>G (p.Met1198Val)
|
|
|
NM_032578.4(MYPN):c.3598C>A (p.Pro1200Thr)
|
rs2134311541
|
|
NM_032578.4(MYPN):c.3601C>T (p.Pro1201Ser)
|
rs2134311572
|
|
NM_032578.4(MYPN):c.3609C>A (p.Phe1203Leu)
|
rs2134311623
|
|
NM_032578.4(MYPN):c.361A>G (p.Asn121Asp)
|
rs2133994576
|
|
NM_032578.4(MYPN):c.3632C>A (p.Thr1211Asn)
|
rs2043722750
|
|
NM_032578.4(MYPN):c.3632C>T (p.Thr1211Ile)
|
|
|
NM_032578.4(MYPN):c.363C>G (p.Asn121Lys)
|
|
|
NM_032578.4(MYPN):c.3646A>G (p.Arg1216Gly)
|
rs1589614570
|
|
NM_032578.4(MYPN):c.3658A>G (p.Ser1220Gly)
|
rs1252747604
|
|
NM_032578.4(MYPN):c.3659+13C>T
|
|
|
NM_032578.4(MYPN):c.3660-12_3660-9del
|
rs2043822171
|
|
NM_032578.4(MYPN):c.3660-1G>A
|
|
|
NM_032578.4(MYPN):c.3660-2A>C
|
|
|
NM_032578.4(MYPN):c.3661A>G (p.Met1221Val)
|
rs1564702434
|
|
NM_032578.4(MYPN):c.3663G>A (p.Met1221Ile)
|
rs1564702438
|
|
NM_032578.4(MYPN):c.3679G>A (p.Gly1227Arg)
|
rs2043822926
|
|
NM_032578.4(MYPN):c.367C>T (p.Arg123Ter)
|
rs2133994592
|
|
NM_032578.4(MYPN):c.3687C>T (p.Ala1229=)
|
rs2043823035
|
|
NM_032578.4(MYPN):c.3696C>T (p.Leu1232=)
|
rs2134338214
|
|
NM_032578.4(MYPN):c.3702G>A (p.Gln1234=)
|
|
|
NM_032578.4(MYPN):c.3704C>A (p.Pro1235Gln)
|
|
|
NM_032578.4(MYPN):c.3718G>A (p.Asp1240Asn)
|
|
|
NM_032578.4(MYPN):c.3721G>A (p.Ala1241Thr)
|
rs1340955437
|
|
NM_032578.4(MYPN):c.3722C>A (p.Ala1241Asp)
|
|
|
NM_032578.4(MYPN):c.3735G>A (p.Thr1245=)
|
|
|
NM_032578.4(MYPN):c.3735G>T (p.Thr1245=)
|
rs184347775
|
|
NM_032578.4(MYPN):c.3738G>A (p.Leu1246=)
|
|
|
NM_032578.4(MYPN):c.3738G>T (p.Leu1246Phe)
|
|
|
NM_032578.4(MYPN):c.373C>G (p.Pro125Ala)
|
rs2133994610
|
|
NM_032578.4(MYPN):c.3756_3757insA (p.Gly1253fs)
|
rs2043824248
|
|
NM_032578.4(MYPN):c.3762C>T (p.Ile1254=)
|
|
|
NM_032578.4(MYPN):c.3764T>G (p.Val1255Gly)
|
|
|
NM_032578.4(MYPN):c.3765G>A (p.Val1255=)
|
|
|
NM_032578.4(MYPN):c.3779G>A (p.Arg1260Lys)
|
rs2134338662
|
|
NM_032578.4(MYPN):c.3786T>C (p.Asp1262=)
|
rs993063021
|
|
NM_032578.4(MYPN):c.3793+17T>C
|
|
|
NM_032578.4(MYPN):c.3793+8T>C
|
|
|
NM_032578.4(MYPN):c.3793G>A (p.Ala1265Thr)
|
rs199476416
|
|
NM_032578.4(MYPN):c.3793G>C (p.Ala1265Pro)
|
rs199476416
|
|
NM_032578.4(MYPN):c.3793G>T (p.Ala1265Ser)
|
rs199476416
|
|
NM_032578.4(MYPN):c.3794-13G>A
|
rs1004183832
|
|
NM_032578.4(MYPN):c.3794-19T>C
|
|
|
NM_032578.4(MYPN):c.3794-19T>G
|
rs1448398956
|
|
NM_032578.4(MYPN):c.3794-1G>A
|
|
|
NM_032578.4(MYPN):c.3794-9A>C
|
rs1589622747
|
|
NM_032578.4(MYPN):c.3794-9A>T
|
|
|
NM_032578.4(MYPN):c.3805C>G (p.His1269Asp)
|
rs746600159
|
|
NM_032578.4(MYPN):c.3808C>G (p.Gln1270Glu)
|
rs730880169
|
|
NM_032578.4(MYPN):c.3813C>G (p.Ile1271Met)
|
rs777067913
|
|
NM_032578.4(MYPN):c.3813C>T (p.Ile1271=)
|
|
|
NM_032578.4(MYPN):c.3815C>T (p.Pro1272Leu)
|
rs1554852276
|
|
NM_032578.4(MYPN):c.3824T>C (p.Met1275Thr)
|
rs370197106
|
|
NM_032578.4(MYPN):c.3825G>A (p.Met1275Ile)
|
rs777519016
|
|
NM_032578.4(MYPN):c.3826T>A (p.Ser1276Thr)
|
rs2043888970
|
|
NM_032578.4(MYPN):c.3829G>A (p.Val1277Ile)
|
rs2043889024
|
|
NM_032578.4(MYPN):c.3831C>T (p.Val1277=)
|
|
|
NM_032578.4(MYPN):c.3832C>A (p.Arg1278=)
|
rs763054747
|
|
NM_032578.4(MYPN):c.3836C>T (p.Pro1279Leu)
|
|
|
NM_032578.4(MYPN):c.3838A>G (p.Ser1280Gly)
|
rs1589622883
|
|
NM_032578.4(MYPN):c.3852C>T (p.Tyr1284=)
|
|
|
NM_032578.4(MYPN):c.3858T>A (p.Ser1286=)
|
rs2134357177
|
|
NM_032578.4(MYPN):c.3859C>G (p.Leu1287Val)
|
|
|
NM_032578.4(MYPN):c.3861C>T (p.Leu1287=)
|
rs2134357185
|
|
NM_032578.4(MYPN):c.3867T>C (p.Ser1289=)
|
|
|
NM_032578.4(MYPN):c.3871G>A (p.Gly1291Arg)
|
rs2043890485
|
|
NM_032578.4(MYPN):c.3872G>C (p.Gly1291Ala)
|
|
|
NM_032578.4(MYPN):c.3877G>A (p.Asp1293Asn)
|
rs1554852297
|
|
NM_032578.4(MYPN):c.3879C>T (p.Asp1293=)
|
|
|
NM_032578.4(MYPN):c.3880A>G (p.Ile1294Val)
|
rs1246586000
|
|
NM_032578.4(MYPN):c.3881T>C (p.Ile1294Thr)
|
rs2134357329
|
|
NM_032578.4(MYPN):c.3896C>T (p.Ser1299Phe)
|
|
|
NM_032578.4(MYPN):c.3899C>T (p.Ser1300Phe)
|
rs1564704607
|
|
NM_032578.4(MYPN):c.38C>G (p.Ser13Cys)
|
rs775838889
|
|
NM_032578.4(MYPN):c.3904G>A (p.Glu1302Lys)
|
|
|
NM_032578.4(MYPN):c.3904G>T (p.Glu1302Ter)
|
|
|
NM_032578.4(MYPN):c.3912G>A (p.Thr1304=)
|
rs1405000820
|
|
NM_032578.4(MYPN):c.3914T>C (p.Met1305Thr)
|
rs774564158
|
|
NM_032578.4(MYPN):c.3915G>A (p.Met1305Ile)
|
rs2043891482
|
|
NM_032578.4(MYPN):c.3920A>G (p.Tyr1307Cys)
|
rs2134357583
|
|
NM_032578.4(MYPN):c.3936G>A (p.Arg1312=)
|
|
|
NM_032578.4(MYPN):c.3939T>C (p.Ser1313=)
|
|
|
NM_032578.4(MYPN):c.3939T>G (p.Ser1313Arg)
|
|
|
NM_032578.4(MYPN):c.3960T>G (p.Leu1320=)
|
|
|
NM_032578.4(MYPN):c.3963A>G (p.Ter1321=)
|
rs539338042
|
|
NM_032578.4(MYPN):c.396C>T (p.Pro132=)
|
|
|
NM_032578.4(MYPN):c.404C>G (p.Ala135Gly)
|
rs141983653
|
|
NM_032578.4(MYPN):c.418T>C (p.Tyr140His)
|
rs2133994804
|
|
NM_032578.4(MYPN):c.421T>C (p.Cys141Arg)
|
rs2042248173
|
|
NM_032578.4(MYPN):c.422G>T (p.Cys141Phe)
|
|
|
NM_032578.4(MYPN):c.424T>C (p.Ser142Pro)
|
rs2133994828
|
|
NM_032578.4(MYPN):c.435G>A (p.Gln145=)
|
rs2133994889
|
|
NM_032578.4(MYPN):c.459G>T (p.Lys153Asn)
|
rs1589528746
|
|
NM_032578.4(MYPN):c.465C>A (p.Ala155=)
|
rs142867001
|
|
NM_032578.4(MYPN):c.486C>T (p.Ser162=)
|
|
|
NM_032578.4(MYPN):c.489C>T (p.Ser163=)
|
rs1277548524
|
|
NM_032578.4(MYPN):c.502C>G (p.His168Asp)
|
rs1369595385
|
|
NM_032578.4(MYPN):c.502C>T (p.His168Tyr)
|
|
|
NM_032578.4(MYPN):c.504C>A (p.His168Gln)
|
rs2042249528
|
|
NM_032578.4(MYPN):c.518T>A (p.Ile173Asn)
|
rs2042249791
|
|
NM_032578.4(MYPN):c.519T>C (p.Ile173=)
|
rs769771296
|
|
NM_032578.4(MYPN):c.548G>A (p.Ser183Asn)
|
|
|
NM_032578.4(MYPN):c.54G>C (p.Glu18Asp)
|
rs876657919
|
|
NM_032578.4(MYPN):c.557A>C (p.Glu186Ala)
|
|
|
NM_032578.4(MYPN):c.566A>T (p.Asn189Ile)
|
rs1589528864
|
|
NM_032578.4(MYPN):c.570A>C (p.Lys190Asn)
|
rs1163308868
|
|
NM_032578.4(MYPN):c.589T>C (p.Ser197Pro)
|
|
|
NM_032578.4(MYPN):c.591C>T (p.Ser197=)
|
rs374950923
|
|
NM_032578.4(MYPN):c.601G>A (p.Asp201Asn)
|
rs1454105180
|
|
NM_032578.4(MYPN):c.602A>C (p.Asp201Ala)
|
rs754204322
|
|
NM_032578.4(MYPN):c.608C>A (p.Ser203Ter)
|
rs2133995502
|
|
NM_032578.4(MYPN):c.614G>A (p.Arg205Lys)
|
rs2133995521
|
|
NM_032578.4(MYPN):c.616C>A (p.Arg206=)
|
|
|
NM_032578.4(MYPN):c.617G>A (p.Arg206Gln)
|
|
|
NM_032578.4(MYPN):c.625TCT[1] (p.Ser210del)
|
rs749944961
|
|
NM_032578.4(MYPN):c.634C>G (p.Pro212Ala)
|
|
|
NM_032578.4(MYPN):c.637A>G (p.Ile213Val)
|
rs199476402
|
|
NM_032578.4(MYPN):c.640C>G (p.Pro214Ala)
|
rs2133995680
|
|
NM_032578.4(MYPN):c.643A>G (p.Ile215Val)
|
|
|
NM_032578.4(MYPN):c.644T>A (p.Ile215Asn)
|
rs1369263795
|
|
NM_032578.4(MYPN):c.649G>A (p.Ala217Thr)
|
rs2133995746
|
|
NM_032578.4(MYPN):c.650C>A (p.Ala217Glu)
|
rs199476403
|
|
NM_032578.4(MYPN):c.651G>A (p.Ala217=)
|
rs2042252455
|
|
NM_032578.4(MYPN):c.662A>G (p.Asp221Gly)
|
rs185841477
|
|
NM_032578.4(MYPN):c.662A>T (p.Asp221Val)
|
rs185841477
|
|
NM_032578.4(MYPN):c.671T>C (p.Val224Ala)
|
rs1554839341
|
|
NM_032578.4(MYPN):c.674A>G (p.Asn225Ser)
|
|
|
NM_032578.4(MYPN):c.678C>T (p.His226=)
|
rs1458929239
|
|
NM_032578.4(MYPN):c.680C>A (p.Ala227Asp)
|
rs148874991
|
|
NM_032578.4(MYPN):c.682C>G (p.Leu228Val)
|
|
|
NM_032578.4(MYPN):c.682C>T (p.Leu228=)
|
|
|
NM_032578.4(MYPN):c.687A>G (p.Glu229=)
|
|
|
NM_032578.4(MYPN):c.688C>T (p.Gln230Ter)
|
|
|
NM_032578.4(MYPN):c.689A>C (p.Gln230Pro)
|
rs2042253320
|
|
NM_032578.4(MYPN):c.693G>C (p.Gln231His)
|
rs1188978880
|
|
NM_032578.4(MYPN):c.701A>G (p.Lys234Arg)
|
rs2133995953
|
|
NM_032578.4(MYPN):c.702G>C (p.Lys234Asn)
|
rs1589529109
|
|
NM_032578.4(MYPN):c.708T>C (p.Arg236=)
|
rs1023787850
|
|
NM_032578.4(MYPN):c.711A>C (p.Glu237Asp)
|
|
|
NM_032578.4(MYPN):c.716_736dup (p.Ala245_Ala246insGluGlnAlaAlaSerGluAla)
|
|
|
NM_032578.4(MYPN):c.718C>G (p.Gln240Glu)
|
rs1438075413
|
|
NM_032578.4(MYPN):c.719A>G (p.Gln240Arg)
|
|
|
NM_032578.4(MYPN):c.71C>A (p.Thr24Asn)
|
rs2133993354
|
|
NM_032578.4(MYPN):c.720G>C (p.Gln240His)
|
rs2042254307
|
|
NM_032578.4(MYPN):c.724G>A (p.Ala242Thr)
|
rs779283631
|
|
NM_032578.4(MYPN):c.729T>G (p.Ser243Arg)
|
rs794727304
|
|
NM_032578.4(MYPN):c.72C>T (p.Thr24=)
|
|
|
NM_032578.4(MYPN):c.732G>A (p.Glu244=)
|
|
|
NM_032578.4(MYPN):c.740G>C (p.Gly247Ala)
|
rs1250584637
|
|
NM_032578.4(MYPN):c.741T>A (p.Gly247=)
|
|
|
NM_032578.4(MYPN):c.741T>G (p.Gly247=)
|
rs1589529211
|
|
NM_032578.4(MYPN):c.744A>G (p.Gly248=)
|
rs749058723
|
|
NM_032578.4(MYPN):c.746A>G (p.Asp249Gly)
|
|
|
NM_032578.4(MYPN):c.746A>T (p.Asp249Val)
|
rs2042254891
|
|
NM_032578.4(MYPN):c.767C>A (p.Pro256His)
|
rs2042255659
|
|
NM_032578.4(MYPN):c.768T>A (p.Pro256=)
|
|
|
NM_032578.4(MYPN):c.772T>C (p.Ser258Pro)
|
rs1403261361
|
|
NM_032578.4(MYPN):c.781_784del (p.Tyr261fs)
|
|
|
NM_032578.4(MYPN):c.783T>C (p.Tyr261=)
|
|
|
NM_032578.4(MYPN):c.785A>G (p.Glu262Gly)
|
rs876657924
|
|
NM_032578.4(MYPN):c.78T>C (p.His26=)
|
|
|
NM_032578.4(MYPN):c.794T>C (p.Leu265Pro)
|
rs766534329
|
|
NM_032578.4(MYPN):c.805C>A (p.Pro269Thr)
|
rs560119421
|
|
NM_032578.4(MYPN):c.806C>T (p.Pro269Leu)
|
rs1489529278
|
|
NM_032578.4(MYPN):c.807C>T (p.Pro269=)
|
|
|
NM_032578.4(MYPN):c.81G>A (p.Arg27=)
|
|
|
NM_032578.4(MYPN):c.826C>G (p.Arg276Gly)
|
rs745678026
|
|
NM_032578.4(MYPN):c.826C>T (p.Arg276Trp)
|
|
|
NM_032578.4(MYPN):c.834A>G (p.Arg278=)
|
rs2133996684
|
|
NM_032578.4(MYPN):c.839T>G (p.Val280Gly)
|
rs2042257341
|
|
NM_032578.4(MYPN):c.845_847del (p.Glu282del)
|
rs2042257518
|
|
NM_032578.4(MYPN):c.84A>C (p.Gly28=)
|
rs2133993422
|
|
NM_032578.4(MYPN):c.861G>A (p.Gln287=)
|
rs559908964
|
|
NM_032578.4(MYPN):c.883A>T (p.Ile295Phe)
|
rs1554839439
|
|
NM_032578.4(MYPN):c.896A>C (p.Gln299Pro)
|
|
|
NM_032578.4(MYPN):c.898G>A (p.Val300Ile)
|
rs1254052635
|
|
NM_032578.4(MYPN):c.902+12C>T
|
|
|
NM_032578.4(MYPN):c.902+12_902+26del
|
|
|
NM_032578.4(MYPN):c.903-13del
|
|
|
NM_032578.4(MYPN):c.903-15T>C
|
|
|
NM_032578.4(MYPN):c.903-19C>G
|
|
|
NM_032578.4(MYPN):c.903-20C>A
|
|
|
NM_032578.4(MYPN):c.903-8C>G
|
rs2134066099
|
|
NM_032578.4(MYPN):c.917G>A (p.Gly306Asp)
|
rs780873354
|
|
NM_032578.4(MYPN):c.925C>G (p.Leu309Val)
|
rs747665161
|
|
NM_032578.4(MYPN):c.946C>A (p.His316Asn)
|
rs2134066274
|
|
NM_032578.4(MYPN):c.951C>T (p.Ile317=)
|
rs759998419
|
|
NM_032578.4(MYPN):c.960A>G (p.Ala320=)
|
rs2134066348
|
|
NM_032578.4(MYPN):c.964A>T (p.Asn322Tyr)
|
rs1060503576
|
|
NM_032578.4(MYPN):c.972C>T (p.His324=)
|
rs2134066433
|
|
NM_032578.4(MYPN):c.981C>G (p.Thr327=)
|
rs760798332
|
|
NM_032578.4(MYPN):c.984T>C (p.Ile328=)
|
rs146899174
|
|
NM_032578.4(MYPN):c.992C>G (p.Ala331Gly)
|
rs2134066513
|
|
NM_032578.4(MYPN):c.99T>C (p.Ser33=)
|
|
|
NM_033360.4(KRAS):c.351A>C (p.Lys117Asn)
|
rs770248150
|
|
NM_033360.4(KRAS):c.436G>C (p.Ala146Pro)
|
rs121913527
|
|
NM_078626.3(CDKN2C):c.230C>A (p.Ala77Glu)
|
rs746646631
|
|
NM_145046.5(CALR3):c.772_777delinsGCCAGG (p.Lys258_Pro259delinsAlaArg)
|
rs1599717620
|
|
NM_170606.3(KMT2C):c.9137T>C (p.Leu3046Pro)
|
rs1003155450
|
|
NM_170606.3(KMT2C):c.9181C>G (p.Gln3061Glu)
|
rs1587941402
|
|
NM_178129.5(P2RY8):c.869C>G (p.Pro290Arg)
|
rs1603452612
|
|
NM_181703.4(GJA5):c.1000C>A (p.Pro334Thr)
|
|
|
NM_181703.4(GJA5):c.1020C>G (p.Asp340Glu)
|
|
|
NM_181703.4(GJA5):c.1023G>A (p.Lys341=)
|
rs145008952
|
|
NM_181703.4(GJA5):c.1023G>C (p.Lys341Asn)
|
|
|
NM_181703.4(GJA5):c.1030C>A (p.Leu344Ile)
|
|
|
NM_181703.4(GJA5):c.1034G>A (p.Ser345Asn)
|
|
|
NM_181703.4(GJA5):c.1035_1038del (p.Ser345fs)
|
rs781887233
|
|
NM_181703.4(GJA5):c.1039G>C (p.Ala347Pro)
|
|
|
NM_181703.4(GJA5):c.1046G>A (p.Ser349Asn)
|
|
|
NM_181703.4(GJA5):c.105C>T (p.Leu35=)
|
|
|
NM_181703.4(GJA5):c.1065C>A (p.Asp355Glu)
|
|
|
NM_181703.4(GJA5):c.1071A>T (p.Ser357=)
|
rs1553226734
|
|
NM_181703.4(GJA5):c.117A>G (p.Thr39=)
|
rs2148959468
|
|
NM_181703.4(GJA5):c.123T>A (p.Ala41=)
|
rs2148959454
|
|
NM_181703.4(GJA5):c.138G>A (p.Gly46=)
|
rs984101534
|
|
NM_181703.4(GJA5):c.138G>C (p.Gly46=)
|
|
|
NM_181703.4(GJA5):c.148G>A (p.Ala50Thr)
|
rs782167622
|
|
NM_181703.4(GJA5):c.160T>C (p.Cys54Arg)
|
|
|
NM_181703.4(GJA5):c.176C>T (p.Pro59Leu)
|
|
|
NM_181703.4(GJA5):c.199G>T (p.Asp67Tyr)
|
rs150906806
|
|
NM_181703.4(GJA5):c.203A>G (p.Gln68Arg)
|
|
|
NM_181703.4(GJA5):c.208T>C (p.Phe70Leu)
|
|
|
NM_181703.4(GJA5):c.213C>T (p.Pro71=)
|
|
|
NM_181703.4(GJA5):c.223A>T (p.Ile75Phe)
|
rs587777304
|
|
NM_181703.4(GJA5):c.227G>A (p.Arg76His)
|
rs2148959382
|
|
NM_181703.4(GJA5):c.229T>C (p.Tyr77His)
|
rs1663877672
|
|
NM_181703.4(GJA5):c.23del (p.Gly8fs)
|
|
|
NM_181703.4(GJA5):c.248T>C (p.Ile83Thr)
|
|
|
NM_181703.4(GJA5):c.255C>A (p.Val85=)
|
|
|
NM_181703.4(GJA5):c.259A>T (p.Thr87Ser)
|
rs1557943770
|
|
NM_181703.4(GJA5):c.261G>A (p.Thr87=)
|
|
|
NM_181703.4(GJA5):c.266C>G (p.Ser89Cys)
|
|
|
NM_181703.4(GJA5):c.268C>T (p.Leu90=)
|
|
|
NM_181703.4(GJA5):c.269T>C (p.Leu90Pro)
|
|
|
NM_181703.4(GJA5):c.272T>C (p.Val91Ala)
|
|
|
NM_181703.4(GJA5):c.275A>C (p.Tyr92Ser)
|
|
|
NM_181703.4(GJA5):c.278T>C (p.Met93Thr)
|
rs1663872343
|
|
NM_181703.4(GJA5):c.279_296dup (p.Thr99_Val100insGlyHisAlaMetHisThr)
|
|
|
NM_181703.4(GJA5):c.281del (p.Gly94fs)
|
|
|
NM_181703.4(GJA5):c.287C>A (p.Ala96Asp)
|
|
|
NM_181703.4(GJA5):c.287C>T (p.Ala96Val)
|
|
|
NM_181703.4(GJA5):c.297T>G (p.Thr99=)
|
rs146738543
|
|
NM_181703.4(GJA5):c.299T>G (p.Val100Gly)
|
|
|
NM_181703.4(GJA5):c.302G>A (p.Arg101His)
|
rs782301284
|
|
NM_181703.4(GJA5):c.304A>C (p.Met102Leu)
|
|
|
NM_181703.4(GJA5):c.304A>T (p.Met102Leu)
|
rs1285920774
|
|
NM_181703.4(GJA5):c.30C>T (p.Phe10=)
|
|
|
NM_181703.4(GJA5):c.317G>A (p.Arg106His)
|
|
|
NM_181703.4(GJA5):c.327G>A (p.Arg109=)
|
rs143695986
|
|
NM_181703.4(GJA5):c.347A>C (p.Glu116Ala)
|
rs782546377
|
|
NM_181703.4(GJA5):c.351C>T (p.Val117=)
|
|
|
NM_181703.4(GJA5):c.352C>G (p.Arg118Gly)
|
|
|
NM_181703.4(GJA5):c.355G>T (p.Gly119Cys)
|
rs2148959258
|
|
NM_181703.4(GJA5):c.356G>A (p.Gly119Asp)
|
rs1663860097
|
|
NM_181703.4(GJA5):c.362G>A (p.Gly121Asp)
|
rs1413935876
|
|
NM_181703.4(GJA5):c.365C>G (p.Ser122Cys)
|
rs781831348
|
|
NM_181703.4(GJA5):c.377C>A (p.Pro126Gln)
|
|
|
NM_181703.4(GJA5):c.381G>A (p.Val127=)
|
|
|
NM_181703.4(GJA5):c.399G>T (p.Leu133=)
|
|
|
NM_181703.4(GJA5):c.411G>T (p.Glu137Asp)
|
rs200288659
|
|
NM_181703.4(GJA5):c.414A>G (p.Glu138=)
|
|
|
NM_181703.4(GJA5):c.415G>A (p.Gly139Arg)
|
|
|
NM_181703.4(GJA5):c.432C>A (p.Ala144=)
|
|
|
NM_181703.4(GJA5):c.433C>A (p.Leu145Ile)
|
rs2148959187
|
|
NM_181703.4(GJA5):c.433del (p.Leu145fs)
|
rs781802553
|
|
NM_181703.4(GJA5):c.435C>T (p.Leu145=)
|
|
|
NM_181703.4(GJA5):c.438G>A (p.Gln146=)
|
rs1553226989
|
|
NM_181703.4(GJA5):c.445C>T (p.Leu149=)
|
|
|
NM_181703.4(GJA5):c.447G>C (p.Leu149=)
|
rs782002899
|
|
NM_181703.4(GJA5):c.450C>T (p.Leu150=)
|
|
|
NM_181703.4(GJA5):c.479G>A (p.Arg160His)
|
|
|
NM_181703.4(GJA5):c.479G>T (p.Arg160Leu)
|
rs782538185
|
|
NM_181703.4(GJA5):c.481A>G (p.Thr161Ala)
|
rs2148959150
|
|
NM_181703.4(GJA5):c.497G>C (p.Gly166Ala)
|
|
|
NM_181703.4(GJA5):c.497del (p.Gly166fs)
|
|
|
NM_181703.4(GJA5):c.4G>C (p.Gly2Arg)
|
rs2148959534
|
|
NM_181703.4(GJA5):c.510C>A (p.Gly170=)
|
|
|
NM_181703.4(GJA5):c.513G>A (p.Gln171=)
|
rs1571066735
|
|
NM_181703.4(GJA5):c.516C>A (p.Tyr172Ter)
|
|
|
NM_181703.4(GJA5):c.521T>A (p.Ile174Asn)
|
|
|
NM_181703.4(GJA5):c.525C>G (p.Tyr175Ter)
|
rs149441155
|
|
NM_181703.4(GJA5):c.525C>T (p.Tyr175=)
|
|
|
NM_181703.4(GJA5):c.526G>A (p.Gly176Arg)
|
rs2148959125
|
|
NM_181703.4(GJA5):c.533del (p.Phe178fs)
|
|
|
NM_181703.4(GJA5):c.537G>C (p.Leu179=)
|
rs2148959118
|
|
NM_181703.4(GJA5):c.543C>T (p.Thr181=)
|
rs1553226953
|
|
NM_181703.4(GJA5):c.544C>T (p.Leu182=)
|
rs1553226951
|
|
NM_181703.4(GJA5):c.550G>A (p.Val184Ile)
|
|
|
NM_181703.4(GJA5):c.551T>A (p.Val184Asp)
|
rs2148959108
|
|
NM_181703.4(GJA5):c.559A>C (p.Arg187=)
|
|
|
NM_181703.4(GJA5):c.566C>G (p.Pro189Arg)
|
|
|
NM_181703.4(GJA5):c.567C>G (p.Pro189=)
|
rs2148959089
|
|
NM_181703.4(GJA5):c.576C>T (p.His192=)
|
|
|
NM_181703.4(GJA5):c.578C>T (p.Pro193Leu)
|
|
|
NM_181703.4(GJA5):c.578del (p.Pro193fs)
|
|
|
NM_181703.4(GJA5):c.57C>G (p.Thr19=)
|
|
|
NM_181703.4(GJA5):c.584A>G (p.Asn195Ser)
|
|
|
NM_181703.4(GJA5):c.591C>T (p.Tyr197=)
|
|
|
NM_181703.4(GJA5):c.598C>T (p.Arg200Trp)
|
|
|
NM_181703.4(GJA5):c.607G>A (p.Glu203Lys)
|
|
|
NM_181703.4(GJA5):c.610A>G (p.Lys204Glu)
|
|
|
NM_181703.4(GJA5):c.618C>G (p.Val206=)
|
rs2148959048
|
|
NM_181703.4(GJA5):c.624T>G (p.Ile208Met)
|
|
|
NM_181703.4(GJA5):c.635T>C (p.Leu212Pro)
|
|
|
NM_181703.4(GJA5):c.638C>A (p.Ala213Asp)
|
|
|
NM_181703.4(GJA5):c.645T>A (p.Ala215=)
|
|
|
NM_181703.4(GJA5):c.646G>A (p.Ala216Thr)
|
|
|
NM_181703.4(GJA5):c.650T>C (p.Leu217Pro)
|
|
|
NM_181703.4(GJA5):c.658C>T (p.Leu220Phe)
|
rs1553226912
|
|
NM_181703.4(GJA5):c.665G>C (p.Ser222Thr)
|
rs1553226908
|
|
NM_181703.4(GJA5):c.685C>T (p.Leu229=)
|
|
|
NM_181703.4(GJA5):c.695AGA[1] (p.Lys233del)
|
|
|
NM_181703.4(GJA5):c.695del (p.Lys232fs)
|
|
|
NM_181703.4(GJA5):c.700A>T (p.Ile234Phe)
|
rs2148959007
|
|
NM_181703.4(GJA5):c.709C>T (p.Arg237Ter)
|
rs1476854402
|
|
NM_181703.4(GJA5):c.722C>G (p.Pro241Arg)
|
|
|
NM_181703.4(GJA5):c.727C>T (p.Gln243Ter)
|
rs2148958988
|
|
NM_181703.4(GJA5):c.730C>T (p.His244Tyr)
|
|
|
NM_181703.4(GJA5):c.738T>C (p.Ala246=)
|
rs2148958978
|
|
NM_181703.4(GJA5):c.756C>A (p.Gly252=)
|
|
|
NM_181703.4(GJA5):c.765G>C (p.Val255=)
|
rs2148958937
|
|
NM_181703.4(GJA5):c.769A>G (p.Ile257Val)
|
|
|
NM_181703.4(GJA5):c.76C>T (p.Leu26Phe)
|
|
|
NM_181703.4(GJA5):c.772G>T (p.Val258Phe)
|
|
|
NM_181703.4(GJA5):c.777del (p.Ser260fs)
|
|
|
NM_181703.4(GJA5):c.780C>T (p.Ser260=)
|
rs1663834363
|
|
NM_181703.4(GJA5):c.789A>G (p.Pro263=)
|
|
|
NM_181703.4(GJA5):c.795C>T (p.Pro265=)
|
|
|
NM_181703.4(GJA5):c.795dup (p.Asp266fs)
|
rs782537868
|
|
NM_181703.4(GJA5):c.813G>A (p.Leu271=)
|
rs2148958892
|
|
NM_181703.4(GJA5):c.815A>C (p.Glu272Ala)
|
|
|
NM_181703.4(GJA5):c.816G>T (p.Glu272Asp)
|
|
|
NM_181703.4(GJA5):c.81T>C (p.Thr27=)
|
|
|
NM_181703.4(GJA5):c.821G>A (p.Gly274Asp)
|
|
|
NM_181703.4(GJA5):c.823C>T (p.Pro275Ser)
|
|
|
NM_181703.4(GJA5):c.824C>G (p.Pro275Arg)
|
|
|
NM_181703.4(GJA5):c.824C>T (p.Pro275Leu)
|
|
|
NM_181703.4(GJA5):c.827_838del (p.Gly276_Phe280delinsVal)
|
|
|
NM_181703.4(GJA5):c.833A>G (p.Lys278Arg)
|
rs2148958862
|
|
NM_181703.4(GJA5):c.834del (p.Lys278fs)
|
|
|
NM_181703.4(GJA5):c.836T>C (p.Phe279Ser)
|
|
|
NM_181703.4(GJA5):c.843T>C (p.Asn281=)
|
|
|
NM_181703.4(GJA5):c.860T>A (p.Met287Lys)
|
|
|
NM_181703.4(GJA5):c.863C>T (p.Ala288Val)
|
|
|
NM_181703.4(GJA5):c.870A>G (p.Gln290=)
|
|
|
NM_181703.4(GJA5):c.891C>T (p.Val297=)
|
|
|
NM_181703.4(GJA5):c.903A>G (p.Val301=)
|
rs2148958793
|
|
NM_181703.4(GJA5):c.904C>T (p.Arg302Ter)
|
|
|
NM_181703.4(GJA5):c.905G>A (p.Arg302Gln)
|
rs781925387
|
|
NM_181703.4(GJA5):c.908G>A (p.Gly303Asp)
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NM_181703.4(GJA5):c.913G>A (p.Glu305Lys)
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NM_181703.4(GJA5):c.920C>T (p.Thr307Ile)
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rs781992965
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NM_181703.4(GJA5):c.923C>G (p.Pro308Arg)
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NM_181703.4(GJA5):c.925G>A (p.Gly309Arg)
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NM_181703.4(GJA5):c.926G>C (p.Gly309Ala)
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NM_181703.4(GJA5):c.932G>C (p.Gly311Ala)
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NM_181703.4(GJA5):c.941A>G (p.Gln314Arg)
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rs1663823052
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NM_181703.4(GJA5):c.942G>T (p.Gln314His)
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NM_181703.4(GJA5):c.945T>A (p.Val315=)
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rs2148958748
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NM_181703.4(GJA5):c.947G>A (p.Arg316His)
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rs369631383
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NM_181703.4(GJA5):c.947G>C (p.Arg316Pro)
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rs369631383
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NM_181703.4(GJA5):c.947G>T (p.Arg316Leu)
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NM_181703.4(GJA5):c.948T>A (p.Arg316=)
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NM_181703.4(GJA5):c.963T>G (p.Pro321=)
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NM_181703.4(GJA5):c.977G>A (p.Gly326Glu)
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rs782703462
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NM_181703.4(GJA5):c.978A>C (p.Gly326=)
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NM_181703.4(GJA5):c.989G>C (p.Gly330Ala)
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NM_198437.3(AURKA):c.1038C>A (p.Phe346Leu)
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rs1455074519
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NM_206937.2(LIG4):c.1271_1275del (p.Lys424fs)
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rs772226399
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NM_206937.2(LIG4):c.1704_1705delinsCG (p.Met569Val)
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rs1878367870
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NM_206937.2(LIG4):c.2356G>A (p.Glu786Lys)
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rs200756045
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Single allele
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t(4;14)(p16.3;q32.3)
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