ClinVar Miner

List of variants studied for restrictive cardiomyopathy

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5779
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HGVS dbSNP gnomAD frequency
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)
NM_181703.4(GJA5):c.913G>A (p.Glu305Lys)
NM_181703.4(GJA5):c.920C>T (p.Thr307Ile) rs781992965
NM_181703.4(GJA5):c.923C>G (p.Pro308Arg)
NM_181703.4(GJA5):c.925G>A (p.Gly309Arg)
NM_181703.4(GJA5):c.926G>C (p.Gly309Ala)
NM_181703.4(GJA5):c.932G>C (p.Gly311Ala)
NM_181703.4(GJA5):c.941A>G (p.Gln314Arg) rs1663823052
NM_181703.4(GJA5):c.942G>T (p.Gln314His)
NM_181703.4(GJA5):c.945T>A (p.Val315=) rs2148958748
NM_181703.4(GJA5):c.947G>A (p.Arg316His) rs369631383
NM_181703.4(GJA5):c.947G>C (p.Arg316Pro) rs369631383
NM_181703.4(GJA5):c.947G>T (p.Arg316Leu)
NM_181703.4(GJA5):c.948T>A (p.Arg316=)
NM_181703.4(GJA5):c.963T>G (p.Pro321=)
NM_181703.4(GJA5):c.977G>A (p.Gly326Glu) rs782703462
NM_181703.4(GJA5):c.978A>C (p.Gly326=)
NM_181703.4(GJA5):c.989G>C (p.Gly330Ala)
NM_198437.3(AURKA):c.1038C>A (p.Phe346Leu) rs1455074519
NM_206937.2(LIG4):c.1271_1275del (p.Lys424fs) rs772226399
NM_206937.2(LIG4):c.1704_1705delinsCG (p.Met569Val) rs1878367870
NM_206937.2(LIG4):c.2356G>A (p.Glu786Lys) rs200756045
Single allele
t(4;14)(p16.3;q32.3)

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