ClinVar Miner

List of variants reported by Genetics and Molecular Pathology, SA Pathology

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ClinVar version:
Total variants: 1851
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HGVS dbSNP gnomAD frequency
NM_020975.6(RET):c.3187+47T>C rs2075912 0.84041
NM_020975.6(RET):c.135A>G (p.Ala45=) rs1800858 0.79274
NM_020975.6(RET):c.1296A>G (p.Ala432=) rs1800860 0.74268
NM_020975.6(RET):c.867+48A>G rs2435352 0.37996
NM_020975.6(RET):c.73+53G>A rs12267460 0.37428
NM_020975.6(RET):c.337+9G>A rs2435351 0.20641
NM_020975.6(RET):c.2712C>G (p.Ser904=) rs1800863 0.17043
NM_020975.6(RET):c.2608-147C>T rs11238441 0.17019
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) rs1799939 0.16640
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_002968.3(SALL1):c.475A>G (p.Ser159Gly) rs13336129 0.06797
NM_000140.5(FECH):c.315-48T>C rs2272783 0.06200
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02950
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01450
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_000552.5(VWF):c.2771G>A (p.Arg924Gln) rs33978901 0.01237
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584 0.01206
NM_000552.5(VWF):c.4196G>A (p.Arg1399His) rs1800382 0.00907
NM_001966.4(EHHADH):c.910+7C>A rs17283799 0.00874
NM_001375808.2(LPIN2):c.1801G>A (p.Glu601Lys) rs61735393 0.00824
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769 0.00809
NM_001481.3(GAS8):c.833G>A (p.Arg278His) rs117053233 0.00781
NM_052945.4(TNFRSF13C):c.191G>T (p.Gly64Val) rs547352394 0.00722
NM_001845.6(COL4A1):c.4640+8G>A rs117566874 0.00671
NM_001089.3(ABCA3):c.863G>A (p.Arg288Lys) rs117603931 0.00662
NM_001122764.3(PPOX):c.767C>G (p.Pro256Arg) rs12735723 0.00660
NM_000552.5(VWF):c.391G>A (p.Gly131Ser) rs76505074 0.00651
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_016233.2(PADI3):c.881C>T (p.Ala294Val) rs144080386 0.00620
NM_006231.4(POLE):c.776G>A (p.Arg259His) rs61732929 0.00604
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_001277115.2(DNAH11):c.640A>G (p.Ile214Val) rs117064287 0.00595
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_016233.2(PADI3):c.335T>A (p.Leu112His) rs142129409 0.00502
NM_022168.4(IFIH1):c.2807+1G>A rs35732034 0.00502
NM_001012339.3(DNAJC21):c.1024G>A (p.Val342Met) rs144600070 0.00471
NM_001364905.1(LRBA):c.7564A>C (p.Thr2522Pro) rs62346982 0.00470
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_000552.5(VWF):c.6187C>T (p.Pro2063Ser) rs61750615 0.00437
NM_014915.3(ANKRD26):c.4445T>C (p.Ile1482Thr) rs80097260 0.00437
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_001270974.2(HYDIN):c.131G>A (p.Arg44Gln) rs113448164 0.00384
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys) rs115052399 0.00370
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_000552.5(VWF):c.7940C>T (p.Thr2647Met) rs61751302 0.00352
NM_001364905.1(LRBA):c.5030A>G (p.Asn1677Ser) rs17027133 0.00349
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784 0.00349
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_001172303.3(MASTL):c.2620G>A (p.Val874Ile) rs138288481 0.00338
NM_001369.3(DNAH5):c.8757G>C (p.Glu2919Asp) rs115776799 0.00334
NM_001190787.3(MCIDAS):c.120+3G>A rs186341559 0.00332
NM_145045.5(ODAD3):c.254G>A (p.Arg85Gln) rs143192349 0.00328
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476 0.00327
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_001555.5(IGSF1):c.668-8G>A rs181264169 0.00322
NM_023036.6(DNAI2):c.468-4G>T rs146462823 0.00321
NM_000208.4(INSR):c.2971C>A (p.Leu991Ile) rs150114699 0.00307
NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys) rs1801696 0.00305
NM_000369.5(TSHR):c.881+3A>G rs186091357 0.00298
NM_001142864.4(PIEZO1):c.3667G>A (p.Val1223Ile) rs185326407 0.00296
NM_153614.4(DNAJB13):c.671G>A (p.Arg224His) rs147921001 0.00296
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
NM_000492.4(CFTR):c.4242+13A>G rs76179227 0.00295
NM_006231.4(POLE):c.16G>C (p.Gly6Arg) rs202220778 0.00293
NM_001291303.3(FAT4):c.4303A>G (p.Ile1435Val) rs142747281 0.00288
NM_032043.3(BRIP1):c.*128A>G rs150444311 0.00277
NM_005026.5(PIK3CD):c.1809G>C (p.Leu603=) rs151278626 0.00268
NM_001876.4(CPT1A):c.302C>T (p.Thr101Met) rs61731903 0.00262
NM_022168.4(IFIH1):c.2105C>T (p.Thr702Ile) rs72650663 0.00253
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952 0.00228
NM_001282225.2(ADA2):c.1045G>A (p.Val349Ile) rs74317375 0.00227
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp) rs34424986 0.00226
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_198576.4(AGRN):c.1394C>T (p.Pro465Leu) rs116586548 0.00216
NM_003664.5(AP3B1):c.2915A>G (p.Asn972Ser) rs139968311 0.00213
NM_153240.5(NPHP3):c.1157A>G (p.Asn386Ser) rs142021049 0.00211
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845 0.00209
NM_001270974.2(HYDIN):c.14857C>T (p.Arg4953Trp) rs79607350 0.00208
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704 0.00207
NM_015102.5(NPHP4):c.2882G>A (p.Arg961His) rs183885357 0.00200
NM_016292.3(TRAP1):c.2053G>A (p.Asp685Asn) rs61756352 0.00195
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn) rs143340522 0.00192
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn) rs3821945 0.00185
NM_001369.3(DNAH5):c.3514C>A (p.Gln1172Lys) rs141168110 0.00184
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys) rs185788586 0.00182
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_001372.4(DNAH9):c.12640G>T (p.Gly4214Cys) rs144547132 0.00180
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_001277115.2(DNAH11):c.8533C>G (p.Arg2845Gly) rs121908854 0.00163
NM_199242.3(UNC13D):c.2341G>A (p.Val781Ile) rs149871493 0.00162
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu) rs138213197 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747 0.00158
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299 0.00158
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782 0.00155
NM_152564.5(VPS13B):c.5905A>G (p.Ile1969Val) rs139640224 0.00154
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_007294.4(BRCA1):c.4682C>T (p.Thr1561Ile) rs56158747 0.00150
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_001089.3(ABCA3):c.839G>A (p.Arg280His) rs143008553 0.00141
NM_014915.3(ANKRD26):c.3007G>A (p.Glu1003Lys) rs41304587 0.00141
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter) rs150766139 0.00138
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_014915.3(ANKRD26):c.2170A>C (p.Ser724Arg) rs141748831 0.00136
NM_001363711.2(DUOX2):c.1709A>T (p.Gln570Leu) rs547116063 0.00131
NM_018076.5(ODAD2):c.883G>C (p.Val295Leu) rs143215183 0.00128
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) rs79204362 0.00125
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr) rs146384562 0.00124
NM_019616.4(F7):c.785G>A (p.Arg262Gln) rs77121822 0.00118
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala) rs113994167 0.00116
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg) rs28997570 0.00113
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00105
NM_001270974.2(HYDIN):c.11047C>T (p.Arg3683Trp) rs200260585 0.00102
NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter) rs137852987 0.00102
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_001770.6(CD19):c.1274C>T (p.Ser425Phe) rs142818579 0.00099
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter) rs120074160 0.00099
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858 0.00092
NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter) rs74315329 0.00089
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) rs142572218 0.00088
NM_020937.4(FANCM):c.3296G>A (p.Arg1099His) rs139382267 0.00083
NM_194318.4(B3GLCT):c.660+1G>A rs80338851 0.00083
NM_000174.5(GP9):c.182A>G (p.Asn61Ser) rs5030764 0.00076
NM_080860.4(RSPH1):c.907A>G (p.Arg303Gly) rs150629342 0.00072
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys) rs150487794 0.00071
NM_002303.6(LEPR):c.2260G>A (p.Val754Met) rs150936702 0.00071
NM_003235.5(TG):c.229G>A (p.Gly77Ser) rs142698837 0.00071
NM_001277115.2(DNAH11):c.9110A>G (p.His3037Arg) rs192327380 0.00070
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) rs199504211 0.00069
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_031471.6(FERMT3):c.332G>A (p.Arg111His) rs145419469 0.00068
NM_000037.4(ANK1):c.1153C>T (p.Arg385Cys) rs142626656 0.00067
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_000433.4(NCF2):c.1179-4C>G rs55795842 0.00066
NM_005475.3(SH2B3):c.622G>C (p.Glu208Gln) rs202080221 0.00066
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn) rs138874610 0.00065
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter) rs143994166 0.00064
NM_002772.3(TMPRSS15):c.2135C>G (p.Ser712Ter) rs77200626 0.00064
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=) rs28897693 0.00064
NM_000384.3(APOB):c.2630C>T (p.Pro877Leu) rs12714097 0.00063
NM_002693.3(POLG):c.3131T>C (p.Val1044Ala) rs150233690 0.00062
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His) rs28897677 0.00060
NM_001369.3(DNAH5):c.1121T>C (p.Ile374Thr) rs147499872 0.00059
NM_024529.5(CDC73):c.-11G>A rs80356643 0.00056
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716 0.00054
NM_000173.7(GP1BA):c.1845_1849del (p.Asn616fs) rs772106076 0.00053
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921 0.00052
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388 0.00051
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927 0.00051
NM_001377304.1(GFI1B):c.503G>T (p.Cys168Phe) rs527297896 0.00049
NM_001277115.2(DNAH11):c.8888C>A (p.Ser2963Tyr) rs374033085 0.00047
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_033409.4(SLC52A3):c.1371C>G (p.Phe457Leu) rs145431028 0.00046
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079 0.00045
NM_020549.5(CHAT):c.605T>G (p.Met202Arg) rs376808313 0.00045
NM_002887.4(RARS1):c.1367C>T (p.Ser456Leu) rs139644798 0.00044
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195 0.00041
NM_000277.3(PAH):c.1315+1G>A rs5030861 0.00040
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635 0.00039
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829 0.00039
NM_022835.3(PLEKHG2):c.610C>T (p.Arg204Trp) rs201201843 0.00039
NM_000552.5(VWF):c.8084C>G (p.Pro2695Arg) rs76459136 0.00038
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014 0.00038
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567 0.00038
NM_016277.5(RAB23):c.434T>A (p.Leu145Ter) rs121908171 0.00037
NM_001626.6(AKT2):c.347G>C (p.Gly116Ala) rs141209878 0.00036
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584 0.00036
NM_024675.4(PALB2):c.1470C>T (p.Pro490=) rs45612837 0.00035
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853 0.00034
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266 0.00034
NM_001270508.2(TNFAIP3):c.322A>G (p.Thr108Ala) rs376205580 0.00033
NM_001270508.2(TNFAIP3):c.295+8T>C rs370813134 0.00032
NM_004371.4(COPA):c.2531G>A (p.Gly844Asp) rs143115096 0.00032
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_000170.3(GLDC):c.1000T>C (p.Phe334Leu) rs149133229 0.00031
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) rs138249161 0.00031
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val) rs121913016 0.00030
NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter) rs200691042 0.00030
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671 0.00029
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly) rs144564120 0.00029
NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln) rs104894493 0.00029
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) rs113994098 0.00028
NM_003907.3(EIF2B5):c.338G>A (p.Arg113His) rs113994049 0.00027
NM_007294.4(BRCA1):c.3713C>T (p.Pro1238Leu) rs28897688 0.00027
NM_000312.4(PROC):c.565C>T (p.Arg189Trp) rs146922325 0.00026
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407 0.00026
NM_002528.7(NTHL1):c.835C>T (p.Gln279Ter) rs146347092 0.00026
NM_000071.3(CBS):c.919G>A (p.Gly307Ser) rs121964962 0.00025
NM_000097.7(CPOX):c.1339C>T (p.Arg447Cys) rs28931603 0.00025
NM_001369.3(DNAH5):c.12523G>A (p.Val4175Met) rs148123430 0.00025
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_000104.4(CYP1B1):c.1064_1076del (p.Arg355fs) rs72549380 0.00024
NM_001277115.2(DNAH11):c.3853-5C>G rs367628980 0.00024
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00024
NM_213607.3(CCDC103):c.31G>C (p.Ala11Pro) rs146015856 0.00024
NM_000369.5(TSHR):c.1349G>A (p.Arg450His) rs189261858 0.00023
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755 0.00022
NM_000059.4(BRCA2):c.9502-12T>G rs81002803 0.00022
NM_005050.4(ABCD4):c.1465G>A (p.Asp489Asn) rs139901585 0.00022
NM_021615.5(CHST6):c.599T>G (p.Leu200Arg) rs28937879 0.00022
NM_030773.4(TUBB1):c.578T>C (p.Ile193Thr) rs141698221 0.00022
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00021
NM_006118.4(HAX1):c.15T>A (p.Asp5Glu) rs201078819 0.00021
NM_014915.3(ANKRD26):c.3G>A (p.Met1Ile) rs199683454 0.00021
NM_144687.4(NLRP12):c.629C>T (p.Pro210Leu) rs377594629 0.00021
NM_198075.4(LRRC56):c.53_55del (p.Val18_Arg19delinsGly) rs759014538 0.00021
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_000132.4(F8):c.1018G>A (p.Glu340Lys) rs781954986 0.00019
NM_000251.3(MSH2):c.138C>G (p.His46Gln) rs33946261 0.00019
NM_001277115.2(DNAH11):c.982+8T>A rs72655978 0.00019
NM_003784.4(SERPINB7):c.796C>T (p.Arg266Ter) rs142859678 0.00019
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513 0.00019
NM_000132.4(F8):c.396A>C (p.Glu132Asp) rs137852388 0.00018
NM_020975.6(RET):c.1531G>A (p.Glu511Lys) rs201553718 0.00018
NM_000155.4(GALT):c.855G>T (p.Lys285Asn) rs111033773 0.00017
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_000558.5(HBA1):c.96-1G>A rs34883113 0.00017
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser) rs72658865 0.00016
NM_000552.5(VWF):c.4027A>G (p.Ile1343Val) rs150923481 0.00016
NM_001277115.2(DNAH11):c.6017C>T (p.Pro2006Leu) rs117803903 0.00016
NM_004963.4(GUCY2C):c.2384G>A (p.Arg795Lys) rs147296490 0.00016
NM_007259.5(VPS45):c.1701G>A (p.Ala567=) rs377365764 0.00016
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu) rs80357201 0.00016
NM_017950.4(CCDC40):c.1187A>T (p.Asn396Ile) rs200701665 0.00016
NM_024675.4(PALB2):c.3054G>C (p.Glu1018Asp) rs183489969 0.00016
NM_024747.6(HPS6):c.1951C>T (p.Arg651Trp) rs376165374 0.00016
NM_003978.5(PSTPIP1):c.355-16C>G rs767272289 0.00015
NM_000243.3(MEFV):c.1528G>A (p.Asp510Asn) rs200557537 0.00014
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp) rs147320363 0.00014
NM_000546.6(TP53):c.869G>A (p.Arg290His) rs55819519 0.00014
NM_000552.5(VWF):c.7390C>T (p.Arg2464Cys) rs61751286 0.00014
NM_001363711.2(DUOX2):c.1060C>T (p.Arg354Trp) rs766496010 0.00014
NM_001369.3(DNAH5):c.3315C>A (p.Asn1105Lys) rs144053917 0.00014
NM_001972.4(ELANE):c.490G>C (p.Gly164Arg) rs112990855 0.00014
NM_002661.5(PLCG2):c.2055-7G>A rs373933998 0.00014
NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys) rs150283105 0.00014
NM_020975.6(RET):c.1699G>A (p.Asp567Asn) rs147219360 0.00014
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys) rs199840367 0.00014
NM_000059.4(BRCA2):c.3445A>G (p.Met1149Val) rs80358589 0.00013
NM_000174.5(GP9):c.290G>A (p.Arg97His) rs146025958 0.00013
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_001270508.2(TNFAIP3):c.619A>C (p.Ile207Leu) rs141807543 0.00013
NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu) rs120074167 0.00013
NM_000365.6(TPI1):c.315G>C (p.Glu105Asp) rs121964845 0.00012
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364 0.00012
NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro) rs56172926 0.00011
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp) rs104894637 0.00011
NM_000352.6(ABCC8):c.1562G>A (p.Arg521Gln) rs368114790 0.00011
NM_000435.3(NOTCH3):c.6809C>T (p.Thr2270Met) rs148716935 0.00011
NM_020975.6(RET):c.2556C>G (p.Ile852Met) rs377767426 0.00011
NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr) rs45510998 0.00011
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu) rs28997573 0.00011
NM_000059.4(BRCA2):c.2488A>G (p.Asn830Asp) rs574039421 0.00010
NM_000083.3(CLCN1):c.2258A>C (p.Gln753Pro) rs112282456 0.00010
NM_000132.4(F8):c.1337G>A (p.Arg446Gln) rs781889613 0.00010
NM_000180.4(GUCY2D):c.121C>T (p.Leu41Phe) rs61749664 0.00010
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00010
NM_000257.4(MYH7):c.976G>C (p.Ala326Pro) rs372731424 0.00010
NM_001367823.1(ARHGEF18):c.1769T>G (p.Leu590Arg) rs188811081 0.00010
NM_006767.4(LZTR1):c.628C>T (p.Arg210Ter) rs150419186 0.00010
NM_017802.4(DNAAF5):c.1499G>T (p.Cys500Phe) rs144405450 0.00010
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter) rs121908177 0.00010
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_000017.4(ACADS):c.1108A>G (p.Met370Val) rs566325901 0.00009
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn) rs369414658 0.00009
NM_000251.3(MSH2):c.1276+11A>G rs189015988 0.00009
NM_000277.3(PAH):c.117C>G (p.Phe39Leu) rs62642926 0.00009
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) rs371387815 0.00009
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu) rs111033309 0.00009
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414 0.00009
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00009
NM_001206744.2(TPO):c.650A>G (p.Asn217Ser) rs148683218 0.00009
NM_001375834.1(WIPF1):c.122G>A (p.Ser41Asn) rs141730361 0.00009
NM_002582.4(PARN):c.272A>G (p.Tyr91Cys) rs201765587 0.00009
NM_006767.4(LZTR1):c.2428C>T (p.Arg810Trp) rs776893978 0.00009
NM_007118.4(TRIO):c.8824C>G (p.Gln2942Glu) rs377248579 0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_138477.4(CDAN1):c.156C>G (p.Phe52Leu) rs80338694 0.00009
NM_000104.4(CYP1B1):c.1169G>A (p.Arg390His) rs56010818 0.00008
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro) rs62508646 0.00008
NM_000359.3(TGM1):c.420A>G (p.Ile140Met) rs139208806 0.00008
NM_000419.5(ITGA2B):c.2198C>T (p.Ala733Val) rs201042087 0.00008
NM_001126108.2(SLC12A3):c.1664C>T (p.Ser555Leu) rs148038173 0.00008
NM_001379451.1(BCORL1):c.2365C>T (p.Arg789Cys) rs371862075 0.00008
NM_004183.4(BEST1):c.1054G>A (p.Ala352Thr) rs147409760 0.00008
NM_006949.4(STXBP2):c.1136G>A (p.Gly379Glu) rs778792433 0.00008
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) rs531398630 0.00008
NM_018076.5(ODAD2):c.2120G>A (p.Arg707Gln) rs139517333 0.00008
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814 0.00008
NM_000478.6(ALPL):c.881A>C (p.Asp294Ala) rs121918002 0.00007
NM_000518.5(HBB):c.92+6T>C rs35724775 0.00007
NM_000552.5(VWF):c.658-3C>A rs377196768 0.00007
NM_001364171.2(ODAD1):c.1502+5G>A rs201133219 0.00007
NM_003482.4(KMT2D):c.12862C>T (p.Arg4288Trp) rs542331667 0.00007
NM_031220.4(PITPNM3):c.287G>A (p.Arg96Gln) rs199749069 0.00007
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_000069.3(CACNA1S):c.3256C>T (p.Arg1086Cys) rs80338782 0.00006
NM_000155.4(GALT):c.584T>C (p.Leu195Pro) rs111033728 0.00006
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) rs80356771 0.00006
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer) rs779339230 0.00006
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_000257.4(MYH7):c.4210G>A (p.Val1404Met) rs371552806 0.00006
NM_000283.4(PDE6B):c.1798G>A (p.Asp600Asn) rs764605140 0.00006
NM_000334.4(SCN4A):c.5218C>T (p.Arg1740Trp) rs373804267 0.00006
NM_000372.5(TYR):c.1A>G (p.Met1Val) rs28940881 0.00006
NM_000435.3(NOTCH3):c.487C>T (p.Arg163Trp) rs367707092 0.00006
NM_000478.6(ALPL):c.407G>A (p.Arg136His) rs121918011 0.00006
NM_000517.4(HBA2):c.427T>C (p.Ter143Gln) rs41464951 0.00006
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593 0.00006
NM_000642.3(AGL):c.4260-12A>G rs369973784 0.00006
NM_001256789.3(CACNA1F):c.4886A>C (p.Glu1629Ala) rs376524533 0.00006
NM_003482.4(KMT2D):c.11347C>G (p.Gln3783Glu) rs752477959 0.00006
NM_004562.3(PRKN):c.744C>G (p.Val248=) rs771437898 0.00006
NM_004667.6(HERC2):c.2627C>T (p.Ala876Val) rs149493788 0.00006
NM_005026.5(PIK3CD):c.1379G>A (p.Arg460His) rs373779625 0.00006
NM_006922.4(SCN3A):c.5881A>T (p.Ser1961Cys) rs184544899 0.00006
NM_007294.4(BRCA1):c.2412G>C (p.Gln804His) rs55746541 0.00006
NM_014140.4(SMARCAL1):c.836T>C (p.Phe279Ser) rs775057827 0.00006
NM_016816.4(OAS1):c.523G>A (p.Glu175Lys) rs148820389 0.00006
NM_024675.4(PALB2):c.3297G>A (p.Thr1099=) rs45565738 0.00006
NM_025137.4(SPG11):c.6598A>T (p.Lys2200Ter) rs141263564 0.00006
NM_030665.4(RAI1):c.1882G>A (p.Glu628Lys) rs371291565 0.00006
NM_000059.4(BRCA2):c.750G>A (p.Val250=) rs143214959 0.00005
NM_000132.4(F8):c.2150G>A (p.Arg717Gln) rs942909873 0.00005
NM_000256.3(MYBPC3):c.3123C>T (p.Gly1041=) rs374626656 0.00005
NM_000431.4(MVK):c.1051C>T (p.Pro351Ser) rs773929129 0.00005
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val) rs1800114 0.00005
NM_000518.5(HBB):c.92+1G>A rs33971440 0.00005
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp) rs118192173 0.00005
NM_003476.5(CSRP3):c.136A>C (p.Ser46Arg) rs137852765 0.00005
NM_004183.4(BEST1):c.1552G>T (p.Glu518Ter) rs370835731 0.00005
NM_032119.4(ADGRV1):c.13340G>A (p.Gly4447Asp) rs532839486 0.00005
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter) rs587779852 0.00004
NM_000059.4(BRCA2):c.5303_5304del (p.Leu1768fs) rs80359505 0.00004
NM_000059.4(BRCA2):c.7010C>T (p.Thr2337Ile) rs80358927 0.00004
NM_000133.4(F9):c.316G>A (p.Gly106Ser) rs137852233 0.00004
NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys) rs61749668 0.00004
NM_000237.3(LPL):c.272G>A (p.Trp91Ter) rs118204070 0.00004
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074 0.00004
NM_000336.3(SCNN1B):c.1900G>C (p.Asp634His) rs776613953 0.00004
NM_000392.5(ABCC2):c.577-3C>T rs370534491 0.00004
NM_000517.6(HBA2):c.143del (p.Asp48fs) rs281864539 0.00004
NM_000552.5(VWF):c.2878C>T (p.Arg960Trp) rs370984712 0.00004
NM_000552.5(VWF):c.7987C>T (p.Arg2663Cys) rs370662678 0.00004
NM_001005242.3(PKP2):c.2357+1G>A rs111517471 0.00004
NM_001256789.3(CACNA1F):c.5863G>A (p.Asp1955Asn) rs376042913 0.00004
NM_001277115.2(DNAH11):c.698C>T (p.Pro233Leu) rs776376992 0.00004
NM_001374385.1(ATP8B1):c.2821C>T (p.Arg941Ter) rs374340059 0.00004
NM_002473.6(MYH9):c.4150G>C (p.Glu1384Gln) rs200616409 0.00004
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys) rs587781813 0.00004
NM_003476.5(CSRP3):c.436C>T (p.Arg146Cys) rs376198883 0.00004
NM_004082.5(DCTN1):c.673C>T (p.Arg225Trp) rs371723224 0.00004
NM_006231.4(POLE):c.5653G>A (p.Ala1885Thr) rs748008084 0.00004
NM_006545.5(NPRL2):c.1004G>A (p.Arg335Gln) rs758322982 0.00004
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs) rs730881700 0.00004
NM_014391.3(ANKRD1):c.838A>G (p.Ile280Val) rs144770680 0.00004
NM_017617.5(NOTCH1):c.6521A>G (p.Lys2174Arg) rs761602495 0.00004
NM_018136.5(ASPM):c.9190C>T (p.Arg3064Ter) rs199422185 0.00004
NM_021738.3(SVIL):c.1783G>A (p.Ala595Thr) rs763112940 0.00004
NM_022436.3(ABCG5):c.-76C>T rs560839317 0.00004
NM_022436.3(ABCG5):c.751C>T (p.Gln251Ter) rs140111105 0.00004
NM_032043.3(BRIP1):c.400C>A (p.Leu134Met) rs876658195 0.00004
NM_032409.3(PINK1):c.1040T>C (p.Leu347Pro) rs28940285 0.00004
NM_054012.4(ASS1):c.352G>A (p.Ala118Thr) rs775305020 0.00004
NM_130810.4(DNAAF4):c.1241A>C (p.Gln414Pro) rs148152687 0.00004
NM_152564.5(VPS13B):c.4396G>T (p.Glu1466Ter) rs120074151 0.00004
NM_181426.2(CCDC39):c.1960G>A (p.Gly654Arg) rs371143749 0.00004
NM_182914.3(SYNE2):c.15130C>T (p.Leu5044Phe) rs551007724 0.00004
NM_000059.4(BRCA2):c.3680_3681del (p.Leu1227fs) rs80359395 0.00003
NM_000059.4(BRCA2):c.6929C>A (p.Thr2310Asn) rs276174886 0.00003
NM_000350.3(ABCA4):c.1609C>T (p.Arg537Cys) rs61748556 0.00003
NM_000358.3(TGFBI):c.371G>A (p.Arg124His) rs121909211 0.00003
NM_000387.6(SLC25A20):c.199-10T>G rs541208710 0.00003
NM_000388.4(CASR):c.566A>G (p.Asn189Ser) rs762998933 0.00003
NM_000393.5(COL5A2):c.3373G>A (p.Gly1125Arg) rs151187317 0.00003
NM_000518.5(HBB):c.-31C>T rs63750628 0.00003
NM_000518.5(HBB):c.316-106C>G rs34690599 0.00003
NM_000546.6(TP53):c.467G>A (p.Arg156His) rs371524413 0.00003
NM_000719.7(CACNA1C):c.1520G>A (p.Arg507His) rs768830617 0.00003
NM_001080517.3(SETD5):c.4159C>T (p.Arg1387Trp) rs560529972 0.00003
NM_001082971.2(DDC):c.1040G>A (p.Arg347Gln) rs201951824 0.00003
NM_001244008.2(KIF1A):c.2798C>T (p.Ala933Val) rs760841799 0.00003
NM_001277115.2(DNAH11):c.12460C>T (p.Arg4154Cys) rs755743542 0.00003
NM_001291415.2(KDM6A):c.2180G>A (p.Gly727Asp) rs759576784 0.00003
NM_002470.4(MYH3):c.3448C>T (p.Arg1150Trp) rs755833851 0.00003
NM_004006.3(DMD):c.1812+1G>A rs373286166 0.00003
NM_004183.4(BEST1):c.37C>T (p.Arg13Cys) rs886041141 0.00003
NM_004817.4(TJP2):c.428T>C (p.Met143Thr) rs1011824757 0.00003
NM_005026.5(PIK3CD):c.1470+15C>T rs375880685 0.00003
NM_006269.2(RP1):c.6225A>C (p.Arg2075Ser) rs756000109 0.00003
NM_007294.4(BRCA1):c.1573G>A (p.Val525Ile) rs80357273 0.00003
NM_013275.6(ANKRD11):c.2216C>T (p.Ser739Leu) rs146294483 0.00003
NM_015488.5(PNKD):c.932G>A (p.Arg311Gln) rs61745358 0.00003
NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter) rs201266016 0.00003
NM_015629.4(PRPF31):c.528G>A (p.Gly176=) rs368977441 0.00003
NM_021615.5(CHST6):c.304T>G (p.Cys102Gly) rs121917822 0.00003
NM_024649.5(BBS1):c.1339G>A (p.Ala447Thr) rs200116631 0.00003
NM_024675.4(PALB2):c.1189A>T (p.Thr397Ser) rs367578415 0.00003
NM_032043.3(BRIP1):c.3042T>C (p.Gly1014=) rs188258913 0.00003
NM_144573.4(NEXN):c.1053+1G>A rs397517843 0.00003
NM_000018.4(ACADVL):c.1358G>A (p.Arg453Gln) rs138058572 0.00002
NM_000059.4(BRCA2):c.5737T>C (p.Cys1913Arg) rs80358799 0.00002
NM_000059.4(BRCA2):c.6683T>C (p.Val2228Ala) rs80358894 0.00002
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg) rs772708743 0.00002
NM_000092.5(COL4A4):c.481G>C (p.Gly161Arg) rs755961411 0.00002
NM_000132.4(F8):c.2149C>T (p.Arg717Trp) rs137852435 0.00002
NM_000132.4(F8):c.5123G>A (p.Arg1708His) rs111033614 0.00002
NM_000146.4(FTL):c.89C>T (p.Thr30Ile) rs397514540 0.00002
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter) rs63749843 0.00002
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617 0.00002
NM_000195.5(HPS1):c.1857+2T>C rs374689398 0.00002
NM_000218.3(KCNQ1):c.187C>T (p.Pro63Ser) rs1280717988 0.00002
NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter) rs782539587 0.00002
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp) rs137853294 0.00002
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter) rs368088025 0.00002
NM_000350.3(ABCA4):c.1906C>T (p.Gln636Ter) rs145961131 0.00002
NM_000441.2(SLC26A4):c.1343C>T (p.Ser448Leu) rs747076316 0.00002
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu) rs587779338 0.00002
NM_000552.5(VWF):c.3159G>T (p.Gln1053His) rs61748496 0.00002
NM_001042492.3(NF1):c.8073T>G (p.His2691Gln) rs375468032 0.00002
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys) rs747993448 0.00002
NM_001110556.2(FLNA):c.7559G>A (p.Arg2520His) rs781959191 0.00002
NM_001128126.3(AP4S1):c.295-3C>A rs185246578 0.00002
NM_001277115.2(DNAH11):c.10264G>A (p.Gly3422Arg) rs764509824 0.00002
NM_001458.5(FLNC):c.5156G>A (p.Arg1719His) rs746777092 0.00002
NM_001844.5(COL2A1):c.446G>A (p.Arg149His) rs763538232 0.00002
NM_002878.4(RAD51D):c.872G>A (p.Arg291His) rs150134822 0.00002
NM_003239.5(TGFB3):c.488G>A (p.Arg163Gln) rs920721092 0.00002
NM_004168.4(SDHA):c.1799G>A (p.Arg600Gln) rs1126568 0.00002
NM_004958.4(MTOR):c.5890A>G (p.Ile1964Val) rs759436987 0.00002
NM_006767.4(LZTR1):c.2326-6T>C rs199965510 0.00002
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met) rs575910805 0.00002
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys) rs587780194 0.00002
NM_014625.4(NPHS2):c.890C>T (p.Ala297Val) rs199506378 0.00002
NM_021147.5(CCNO):c.265C>G (p.Pro89Ala) rs764171316 0.00002
NM_021615.5(CHST6):c.997T>C (p.Trp333Arg) rs758657734 0.00002
NM_024570.4(RNASEH2B):c.719C>G (p.Ser240Ter) rs372632599 0.00002
NM_032444.4(SLX4):c.4739+7G>A rs748897456 0.00002
NM_144687.4(NLRP12):c.1754C>T (p.Pro585Leu) rs569411184 0.00002
NM_206933.4(USH2A):c.1227G>A (p.Trp409Ter) rs397517979 0.00002
NM_206933.4(USH2A):c.13621C>T (p.Gln4541Ter) rs765476745 0.00002
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp) rs113994170 0.00001
NM_000020.3(ACVRL1):c.1436G>A (p.Arg479Gln) rs1085307426 0.00001
NM_000020.3(ACVRL1):c.1450C>T (p.Arg484Trp) rs121909288 0.00001
NM_000033.4(ABCD1):c.692G>A (p.Arg231Gln) rs782143050 0.00001
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter) rs371638537 0.00001
NM_000059.4(BRCA2):c.10076A>G (p.Glu3359Gly) rs80358389 0.00001
NM_000059.4(BRCA2):c.1244A>G (p.His415Arg) rs80358417 0.00001
NM_000059.4(BRCA2):c.3644G>A (p.Gly1215Glu) rs773442698 0.00001
NM_000059.4(BRCA2):c.4716C>G (p.Ala1572=) rs1057521370 0.00001
NM_000059.4(BRCA2):c.6287C>G (p.Pro2096Arg) rs587781396 0.00001
NM_000059.4(BRCA2):c.632-44A>C rs367719443 0.00001
NM_000059.4(BRCA2):c.7628A>G (p.Tyr2543Cys) rs431825354 0.00001
NM_000059.4(BRCA2):c.7757G>A (p.Trp2586Ter) rs80359003 0.00001
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NM_000059.4(BRCA2):c.8359C>T (p.Arg2787Cys) rs41293517 0.00001
NM_000059.4(BRCA2):c.8575del (p.Gln2859fs) rs80359718 0.00001
NM_000059.4(BRCA2):c.909T>G (p.Ser303=) rs757430441 0.00001
NM_000128.4(F11):c.965C>T (p.Thr322Ile) rs281875269 0.00001
NM_000132.4(F8):c.1573G>A (p.Gly525Arg) rs1357976820 0.00001
NM_000132.4(F8):c.1649G>A (p.Arg550His) rs137852418 0.00001
NM_000132.4(F8):c.1834C>T (p.Arg612Cys) rs137852428 0.00001
NM_000132.4(F8):c.456C>G (p.Ser152Arg) rs781912033 0.00001
NM_000132.4(F8):c.493C>T (p.Pro165Ser) rs137852393 0.00001
NM_000132.4(F8):c.5302C>T (p.Arg1768Cys) rs1046670041 0.00001
NM_000132.4(F8):c.5954G>A (p.Arg1985Gln) rs1490417405 0.00001
NM_000132.4(F8):c.6371A>G (p.Tyr2124Cys) rs137852459 0.00001
NM_000132.4(F8):c.6967C>T (p.Arg2323Cys) rs137852473 0.00001
NM_000132.4(F8):c.6977G>A (p.Arg2326Gln) rs137852360 0.00001
NM_000133.4(F9):c.571C>T (p.Arg191Cys) rs137852237 0.00001
NM_000135.4(FANCA):c.709+5G>A rs759877008 0.00001
NM_000143.4(FH):c.301C>T (p.Arg101Ter) rs121913120 0.00001
NM_000152.5(GAA):c.1222A>G (p.Met408Val) rs560575383 0.00001
NM_000170.3(GLDC):c.806C>T (p.Thr269Met) rs386833587 0.00001
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp) rs587779227 0.00001
NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter) rs63749999 0.00001
NM_000186.4(CFH):c.496C>T (p.Arg166Trp) rs746222626 0.00001
NM_000218.3(KCNQ1):c.830C>T (p.Ser277Leu) rs199472730 0.00001
NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser) rs104895128 0.00001
NM_000249.4(MLH1):c.29G>A (p.Arg10Gln) rs777971423 0.00001
NM_000249.4(MLH1):c.454G>A (p.Val152Met) rs748417604 0.00001
NM_000251.3(MSH2):c.1270C>T (p.His424Tyr) rs587782278 0.00001
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter) rs63750636 0.00001
NM_000256.3(MYBPC3):c.1227-13G>A rs397515893 0.00001
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs) rs397515990 0.00001
NM_000257.4(MYH7):c.4787C>T (p.Ser1596Leu) rs774540446 0.00001
NM_000257.4(MYH7):c.821T>C (p.Ile274Thr) rs773456019 0.00001
NM_000257.4(MYH7):c.853A>G (p.Ile285Val) rs748692506 0.00001
NM_000261.2(MYOC):c.1288T>C (p.Phe430Leu) rs1652914106 0.00001
NM_000312.4(PROC):c.962C>T (p.Pro321Leu) rs1321566264 0.00001
NM_000313.4(PROS1):c.1832T>C (p.Met611Thr) rs750531364 0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000317.3(PTS):c.286G>A (p.Asp96Asn) rs104894280 0.00001
NM_000335.5(SCN5A):c.2678G>A (p.Arg893His) rs199473172 0.00001
NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) rs45546039 0.00001
NM_000350.3(ABCA4):c.3259G>A (p.Glu1087Lys) rs61751398 0.00001
NM_000350.3(ABCA4):c.454C>T (p.Arg152Ter) rs62646861 0.00001
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter) rs541269678 0.00001
NM_000358.3(TGFBI):c.370C>T (p.Arg124Cys) rs121909210 0.00001
NM_000388.4(CASR):c.1630C>T (p.Arg544Ter) rs886041637 0.00001
NM_000394.4(CRYAA):c.62G>A (p.Arg21Gln) rs397515626 0.00001
NM_000398.7(CYB5R3):c.574C>T (p.Arg192Cys) rs543277216 0.00001
NM_000435.3(NOTCH3):c.2054C>T (p.Pro685Leu) rs768867865 0.00001
NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys) rs28933697 0.00001
NM_000443.4(ABCB4):c.475C>T (p.Arg159Ter) rs377160065 0.00001
NM_000478.6(ALPL):c.331G>A (p.Ala111Thr) rs773257111 0.00001
NM_000488.4(SERPINC1):c.655A>G (p.Asn219Asp) rs121909571 0.00001
NM_000494.4(COL17A1):c.3156C>T (p.Gly1052=) rs760714959 0.00001
NM_000512.5(GALNS):c.463G>A (p.Gly155Arg) rs398123438 0.00001
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys) rs144172724 0.00001
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile) rs118192168 0.00001
NM_000540.3(RYR1):c.8254G>T (p.Asp2752Tyr) rs768299986 0.00001
NM_000551.4(VHL):c.373C>T (p.His125Tyr) rs375401722 0.00001
NM_000552.5(VWF):c.100C>T (p.Arg34Ter) rs61753984 0.00001
NM_000552.5(VWF):c.3944G>A (p.Arg1315His) rs61749396 0.00001
NM_000552.5(VWF):c.3970G>A (p.Gly1324Ser) rs61749398 0.00001
NM_000552.5(VWF):c.4135C>T (p.Arg1379Cys) rs61750074 0.00001
NM_000552.5(VWF):c.4384C>G (p.Pro1462Ala) rs61750090 0.00001
NM_000552.5(VWF):c.4690C>T (p.Arg1564Trp) rs370854023 0.00001
NM_000552.5(VWF):c.5335C>T (p.Arg1779Ter) rs61750606 0.00001
NM_000552.5(VWF):c.5557C>T (p.Arg1853Ter) rs61750612 0.00001
NM_001018005.2(TPM1):c.82G>C (p.Asp28His) rs397516391 0.00001
NM_001018115.3(FANCD2):c.757C>T (p.Arg253Ter) rs374328858 0.00001
NM_001039591.3(USP9X):c.3382A>T (p.Ser1128Cys) rs1274391019 0.00001
NM_001042681.2(RERE):c.43C>T (p.Arg15Trp) rs1244831205 0.00001
NM_001083614.2(EARS2):c.320G>A (p.Arg107His) rs1021330566 0.00001
NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg) rs104894415 0.00001
NM_001113378.2(FANCI):c.3400A>G (p.Ile1134Val) rs377630829 0.00001
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His) rs267607004 0.00001
NM_001164508.2(NEB):c.13130_13131del (p.Met4377fs) rs1490309743 0.00001
NM_001242896.3(DEPDC5):c.2527C>T (p.Arg843Ter) rs541024038 0.00001
NM_001244008.2(KIF1A):c.4256+5G>A rs762550114 0.00001
NM_001252024.2(TRPM1):c.3007G>A (p.Gly1003Arg) rs769138762 0.00001
NM_001257180.2(SLC20A2):c.1703C>T (p.Pro568Leu) rs763252801 0.00001
NM_001267550.2(TTN):c.88837A>T (p.Lys29613Ter) rs794729300 0.00001
NM_001276345.2(TNNT2):c.145G>A (p.Glu49Lys) rs757526942 0.00001
NM_001288705.3(CSF1R):c.2179A>G (p.Arg727Gly) rs1757281675 0.00001
NM_001330360.2(POLA1):c.463-9C>T rs778776585 0.00001
NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu) rs80338855 0.00001
NM_001370259.2(MEN1):c.1354C>T (p.Arg452Trp) rs863224810 0.00001
NM_001378743.1(CYLD):c.2299A>T (p.Lys767Ter) rs886040888 0.00001
NM_001394062.1(MACF1):c.19053A>T (p.Arg6351Ser) rs1306003144 0.00001
NM_001458.5(FLNC):c.2263C>T (p.Arg755Trp) rs990718751 0.00001
NM_001458.5(FLNC):c.5191C>T (p.His1731Tyr) rs1255727604 0.00001
NM_001556.3(IKBKB):c.230G>A (p.Arg77Gln) rs200136227 0.00001
NM_001844.5(COL2A1):c.968T>A (p.Met323Lys) rs1380248932 0.00001
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln) rs121913008 0.00001
NM_002691.4(POLD1):c.85C>T (p.Pro29Ser) rs750303995 0.00001
NM_002742.3(PRKD1):c.2626C>T (p.Gln876Ter) rs1479389213 0.00001
NM_002834.5(PTPN11):c.166A>G (p.Ile56Val) rs397507504 0.00001
NM_002878.4(RAD51D):c.491T>C (p.Leu164Pro) rs769287847 0.00001
NM_002878.4(RAD51D):c.824G>A (p.Arg275Gln) rs368914740 0.00001
NM_002968.3(SALL1):c.1778G>A (p.Ser593Asn) rs748432190 0.00001
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter) rs74315366 0.00001
NM_003000.3(SDHB):c.649C>T (p.Arg217Cys) rs200245469 0.00001
NM_003000.3(SDHB):c.725G>A (p.Arg242His) rs74315368 0.00001
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844 0.00001
NM_003238.6(TGFB2):c.236A>G (p.Gln79Arg) rs371241859 0.00001
NM_003239.5(TGFB3):c.443G>A (p.Arg148Gln) rs776388495 0.00001
NM_003466.4(PAX8):c.1226C>G (p.Pro409Arg) rs369313070 0.00001
NM_004168.4(SDHA):c.1127T>C (p.Leu376Pro) rs1433477205 0.00001
NM_004369.4(COL6A3):c.2665C>T (p.Arg889Cys) rs201327438 0.00001
NM_004370.6(COL12A1):c.6080G>A (p.Gly2027Glu) rs780058273 0.00001
NM_004562.3(PRKN):c.904C>T (p.His302Tyr) rs755749488 0.00001
NM_005055.5(RAPSN):c.439G>A (p.Glu147Lys) rs560525099 0.00001
NM_005055.5(RAPSN):c.538G>A (p.Glu180Lys) rs1452482859 0.00001
NM_005159.5(ACTC1):c.967G>A (p.Ala323Thr) rs771011464 0.00001
NM_005208.5(CRYBA1):c.215+1G>A rs1264025914 0.00001
NM_006306.4(SMC1A):c.2345G>A (p.Arg782Gln) rs782733394 0.00001
NM_006767.4(LZTR1):c.1733_1734del (p.Asn578fs) rs1460026299 0.00001
NM_006767.4(LZTR1):c.1785+1G>A rs145594158 0.00001
NM_006767.4(LZTR1):c.361C>T (p.His121Tyr) rs1569154492 0.00001
NM_007078.3(LDB3):c.655C>T (p.Arg219Ter) rs727503123 0.00001
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter) rs371418985 0.00001
NM_007194.4(CHEK2):c.444+4G>A rs1434760802 0.00001
NM_007294.4(BRCA1):c.2497T>C (p.Leu833=) rs887578121 0.00001
NM_007294.4(BRCA1):c.465A>T (p.Gln155His) rs864622260 0.00001
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433 0.00001
NM_007294.4(BRCA1):c.514del (p.Gln172fs) rs80357872 0.00001
NM_007317.3(KIF22):c.1387A>G (p.Thr463Ala) rs757545358 0.00001
NM_007325.5(GRIA3):c.424C>T (p.Arg142Cys) rs775540855 0.00001
NM_013319.3(UBIAD1):c.718G>A (p.Asp240Asn) rs371811409 0.00001
NM_015040.4(PIKFYVE):c.2344C>T (p.Arg782Ter) rs992128517 0.00001
NM_015512.5(DNAH1):c.5347C>T (p.Arg1783Trp) rs759947620 0.00001
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys) rs118204046 0.00001
NM_015909.4(NBAS):c.1501C>T (p.Arg501Ter) rs759960319 0.00001
NM_016277.5(RAB23):c.82C>T (p.Arg28Ter) rs765443042 0.00001
NM_017654.4(SAMD9):c.2581_2582insT (p.Glu861fs) rs763398021 0.00001
NM_017802.4(DNAAF5):c.758G>A (p.Arg253Gln) rs545123585 0.00001
NM_018075.5(ANO10):c.1219-1G>T rs1318561721 0.00001
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) rs104894078 0.00001
NM_019616.4(F7):c.1043G>T (p.Cys348Phe) rs121964927 0.00001
NM_019616.4(F7):c.443G>A (p.Arg148His) rs375134790 0.00001
NM_020247.5(COQ8A):c.588+1G>C rs1474965033 0.00001
NM_020863.4(ZFAT):c.3653C>T (p.Ser1218Leu) rs1428157950 0.00001
NM_020975.6(RET):c.1996A>G (p.Lys666Glu) rs143795581 0.00001
NM_021870.2(FGG):c.902G>A (p.Arg301His) rs121913088 0.00001
NM_021871.4(FGA):c.104G>A (p.Arg35His) rs121909607 0.00001
NM_022132.5(MCCC2):c.464G>A (p.Arg155Gln) rs119103220 0.00001
NM_024301.5(FKRP):c.1384C>T (p.Pro462Ser) rs768606230 0.00001
NM_024577.4(SH3TC2):c.224G>A (p.Arg75Gln) rs749772988 0.00001
NM_024577.4(SH3TC2):c.2577T>A (p.Tyr859Ter) rs758871406 0.00001
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter) rs180177100 0.00001
NM_024675.4(PALB2):c.1610C>T (p.Ser537Leu) rs142103232 0.00001
NM_024675.4(PALB2):c.229del (p.Cys77fs) rs180177084 0.00001
NM_024675.4(PALB2):c.2971G>T (p.Val991Phe) rs765175665 0.00001
NM_024675.4(PALB2):c.3350+11A>G rs515726114 0.00001
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998 0.00001
NM_025150.5(TARS2):c.695+3A>G rs587777594 0.00001
NM_031407.7(HUWE1):c.8944C>T (p.Arg2982Trp) rs373845421 0.00001
NM_032043.3(BRIP1):c.679C>G (p.Gln227Glu) rs45459799 0.00001
NM_053025.4(MYLK):c.2663G>A (p.Arg888His) rs528507616 0.00001
NM_054012.4(ASS1):c.349G>A (p.Gly117Ser) rs770944877 0.00001
NM_058216.3(RAD51C):c.408G>A (p.Met136Ile) rs587780836 0.00001
NM_058216.3(RAD51C):c.550G>A (p.Ala184Thr) rs1060502604 0.00001
NM_058216.3(RAD51C):c.97C>T (p.Gln33Ter) rs587782528 0.00001
NM_175914.5(HNF4A):c.925C>T (p.Arg309Cys) rs193922479 0.00001
NM_181486.4(TBX5):c.902C>G (p.Ser301Cys) rs973621936 0.00001
NM_198252.3(GSN):c.487G>A (p.Asp163Asn) rs121909715 0.00001
NM_199242.3(UNC13D):c.1556T>C (p.Ile519Thr) rs1402195363 0.00001
NM_206933.4(USH2A):c.5399G>A (p.Trp1800Ter) rs1553299079 0.00001
GRCh37/hg19 4q25(chr4:111528916-111888401)x1
GRCh37/hg19 6p25.3(chr6:951385-1832936)x3
GRCh37/hg19 Xp22.31(chrX:6456940-8135053)x0
GRCh37/hg19 Xp22.31(chrX:6575924-8173248)x0
NC_000004.12:g.(?_110618049)_(110622472_?)del
NC_000006.12:g.(?_1610445)_(1612107_?)del
NM_000016.6(ACADM):c.947A>T (p.His316Leu)
NM_000017.4(ACADS):c.505A>C (p.Thr169Pro) rs777002501
NM_000018.4(ACADVL):c.829_831del (p.Glu277del) rs796051913
NM_000020.3(ACVRL1):c.1135G>C (p.Glu379Gln)
NM_000020.3(ACVRL1):c.1460A>C (p.Lys487Thr) rs1085307428
NM_000020.3(ACVRL1):c.286A>G (p.Asn96Asp) rs2139065803
NM_000020.3(ACVRL1):c.625+1G>A
NM_000021.4(PSEN1):c.350C>T (p.Pro117Leu) rs63749805
NM_000032.5(ALAS2):c.-15-1829T>C
NM_000038.6(APC):c.1660C>T (p.Arg554Ter) rs137854573
NM_000038.6(APC):c.4332A>T (p.Gln1444His) rs748342378
NM_000044.6(AR):c.1605del (p.Pro534_Tyr535insTer)
NM_000044.6(AR):c.2505C>G (p.Tyr835Ter) rs2147537887
NM_000047.3(ARSL):c.1219G>T (p.Glu407Ter) rs1272438892
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
NM_000051.4(ATM):c.2483del (p.Lys828fs) rs1064794234
NM_000051.4(ATM):c.3756T>A (p.Tyr1252Ter) rs886039637
NM_000051.4(ATM):c.5554C>T (p.Gln1852Ter) rs754562056
NM_000051.4(ATM):c.6040G>T (p.Glu2014Ter) rs375783941
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000051.4(ATM):c.790del (p.Tyr264fs) rs587781978
NM_000053.4(ATP7B):c.2730+2T>A rs2139201007
NM_000059.4(BRCA2):c.-39-12_-39-10del rs276174798
NM_000059.4(BRCA2):c.10013C>A (p.Ser3338Ter) rs1593202166
NM_000059.4(BRCA2):c.1220A>G (p.Gln407Arg) rs1593892264
NM_000059.4(BRCA2):c.1362del (p.Lys454fs) rs80359282
NM_000059.4(BRCA2):c.1586_1587del (p.Asn528_Phe529insTer) rs1017181748
NM_000059.4(BRCA2):c.1813del (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.1929del (p.Arg645fs) rs80359316
NM_000059.4(BRCA2):c.2330dup (p.Asp777fs) rs80359328
NM_000059.4(BRCA2):c.2563A>G (p.Thr855Ala) rs1174270999
NM_000059.4(BRCA2):c.2980del (p.Ala994fs) rs2137491867
NM_000059.4(BRCA2):c.3485C>T (p.Ala1162Val) rs587778122
NM_000059.4(BRCA2):c.3595G>A (p.Asp1199Asn) rs1060502404
NM_000059.4(BRCA2):c.3679_3683del (p.Leu1227fs) rs1555283355
NM_000059.4(BRCA2):c.4154C>G (p.Ser1385Ter) rs886038101
NM_000059.4(BRCA2):c.4409_4410del (p.Ile1470fs) rs80359446
NM_000059.4(BRCA2):c.4449del (p.Asp1484fs) rs80359448
NM_000059.4(BRCA2):c.475G>A (p.Val159Met) rs80358702
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs) rs80359479
NM_000059.4(BRCA2):c.5081G>A (p.Arg1694Lys) rs753721331
NM_000059.4(BRCA2):c.5938A>C (p.Thr1980Pro) rs55877890
NM_000059.4(BRCA2):c.641AAG[1] (p.Glu215del) rs80359588
NM_000059.4(BRCA2):c.67+1G>C rs81002796
NM_000059.4(BRCA2):c.6750_6751insACACA (p.His2251fs) rs2137530365
NM_000059.4(BRCA2):c.682-8T>A rs2137461032
NM_000059.4(BRCA2):c.6915G>A (p.Lys2305=) rs1555285156
NM_000059.4(BRCA2):c.7069_7070del (p.Leu2357fs) rs80359636
NM_000059.4(BRCA2):c.7251_7252del (p.His2417fs) rs397507907
NM_000059.4(BRCA2):c.7435+5T>C rs775973095
NM_000059.4(BRCA2):c.7648A>C (p.Ile2550Leu) rs41293507
NM_000059.4(BRCA2):c.7762del (p.Ile2588fs) rs80359679
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val) rs80359031
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) rs397507954
NM_000059.4(BRCA2):c.8485C>T (p.Gln2829Ter) rs80359099
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg) rs80359100
NM_000059.4(BRCA2):c.8487+3A>G rs81002806
NM_000059.4(BRCA2):c.8904del (p.Val2969fs) rs80359730
NM_000059.4(BRCA2):c.9227G>A (p.Gly3076Glu) rs80359187
NM_000059.4(BRCA2):c.9344A>G (p.Lys3115Arg) rs276174923
NM_000064.4(C3):c.481C>T (p.Arg161Trp) rs776423109
NM_000065.5(C6):c.2101C>T (p.Arg701Trp) rs199930769
NM_000071.3(CBS):c.19dup (p.Gln7fs) rs748695461
NM_000071.3(CBS):c.667-14C>G rs1388184910
NM_000077.5(CDKN2A):c.146T>G (p.Ile49Ser) rs199907548
NM_000080.4(CHRNE):c.1072_1091del (p.Pro358fs) rs932032926
NM_000080.4(CHRNE):c.614_620del (p.Trp205fs) rs753828284
NM_000088.4(COL1A1):c.1427G>T (p.Gly476Val)
NM_000088.4(COL1A1):c.1811del (p.Pro604fs)
NM_000088.4(COL1A1):c.2908_2911del (p.Arg970fs) rs1555572401
NM_000088.4(COL1A1):c.299-2A>G
NM_000089.4(COL1A2):c.594+15A>G rs1791795919
NM_000090.4(COL3A1):c.1733T>A (p.Met578Lys)
NM_000090.4(COL3A1):c.1754G>T (p.Gly585Val) rs2153502692
NM_000090.4(COL3A1):c.2176G>A (p.Gly726Arg) rs587779638
NM_000090.4(COL3A1):c.2330G>A (p.Gly777Glu)
NM_000090.4(COL3A1):c.3836T>C (p.Val1279Ala)
NM_000090.4(COL3A1):c.636+1G>T
NM_000091.5(COL4A3):c.1025G>A (p.Gly342Asp)
NM_000091.5(COL4A3):c.1788_1823del (p.Pro598_Pro609del)
NM_000092.5(COL4A4):c.930+5G>A
NM_000093.5(COL5A1):c.175A>G (p.Thr59Ala) rs751649145
NM_000093.5(COL5A1):c.2701-25T>G rs765079080
NM_000111.3(SLC26A3):c.1514+1G>A
NM_000111.3(SLC26A3):c.571-1G>T rs386833485
NM_000112.4(SLC26A2):c.-26+1G>A
NM_000127.3(EXT1):c.1884-3C>G rs2129694265
NM_000128.4(F11):c.152C>T (p.Thr51Ile) rs281875252
NM_000128.4(F11):c.1782C>A (p.Ser594Arg) rs28934609
NM_000128.4(F11):c.485+1G>T
NM_000130.5(F5):c.1673A>G (p.Tyr558Cys)
NM_000132.4(F8):c.102C>G (p.Asp34Glu)
NM_000132.4(F8):c.1172G>A (p.Arg391His) rs28935499
NM_000132.4(F8):c.1203G>A (p.Trp401Ter) rs2124106016
NM_000132.4(F8):c.1443+2T>G rs2073420861
NM_000132.4(F8):c.1468A>G (p.Arg490Gly) rs1603435026
NM_000132.4(F8):c.1907T>C (p.Ile636Thr)
NM_000132.4(F8):c.1910A>G (p.Asn637Ser) rs2073315379
NM_000132.4(F8):c.209_212del (p.Leu69_Phe70insTer) rs387906434
NM_000132.4(F8):c.2150G>T (p.Arg717Leu) rs942909873
NM_000132.4(F8):c.335C>T (p.Ser112Phe)
NM_000132.4(F8):c.5146C>A (p.His1716Asn) rs2073172888
NM_000132.4(F8):c.5150_5151del (p.Tyr1717fs) rs2124046974
NM_000132.4(F8):c.557A>G (p.Asp186Gly)
NM_000132.4(F8):c.5582A>G (p.Asp1861Gly) rs2123997685
NM_000132.4(F8):c.5853A>C (p.Leu1951Phe)
NM_000132.4(F8):c.5853A>T (p.Leu1951Phe)
NM_000132.4(F8):c.5855T>A (p.Val1952Glu) rs2123996355
NM_000132.4(F8):c.5879G>A (p.Arg1960Gln) rs28937294
NM_000132.4(F8):c.5999G>C (p.Gly2000Ala) rs1603432913
NM_000132.4(F8):c.6046C>T (p.Arg2016Trp) rs137852453
NM_000132.4(F8):c.6052G>A (p.Glu2018Lys)
NM_000132.4(F8):c.6119G>A (p.Cys2040Tyr) rs2123993600
NM_000132.4(F8):c.6273G>C (p.Lys2091Asn)
NM_000132.4(F8):c.6301C>G (p.His2101Asp) rs1603432783
NM_000132.4(F8):c.6362T>A (p.Ile2121Asn)
NM_000132.4(F8):c.6506G>A (p.Arg2169His) rs137852461
NM_000132.4(F8):c.6532C>T (p.Arg2178Cys) rs137852464
NM_000132.4(F8):c.6545G>A (p.Arg2182His) rs137852466
NM_000132.4(F8):c.6547A>G (p.Met2183Val) rs781797728
NM_000132.4(F8):c.671-1G>A rs1255271151
NM_000132.4(F8):c.6710C>T (p.Ala2237Val)
NM_000132.4(F8):c.6976C>T (p.Arg2326Ter) rs137852354
NM_000132.4(F8):c.967G>A (p.Gly323Arg) rs2124109849
NM_000132.4(F8):c.984T>G (p.Phe328Leu) rs782668199
NM_000133.4(F9):c.1138G>A (p.Ala380Thr) rs2148367990
NM_000133.4(F9):c.505T>C (p.Ser169Pro)
NM_000133.4(F9):c.676C>T (p.Arg226Trp) rs137852240
NM_000133.4(F9):c.835G>A (p.Ala279Thr) rs137852247
NM_000138.5(FBN1):c.1042C>T (p.Gln348Ter) rs886039550
NM_000138.5(FBN1):c.1415dup (p.Tyr472Ter)
NM_000138.5(FBN1):c.1737del (p.Asn580fs)
NM_000138.5(FBN1):c.229G>A (p.Gly77Arg) rs794728290
NM_000138.5(FBN1):c.2729A>T (p.Asp910Val) rs1284769637
NM_000138.5(FBN1):c.284C>A (p.Ser95Ter) rs922684362
NM_000138.5(FBN1):c.2876T>C (p.Phe959Ser)
NM_000138.5(FBN1):c.6313+5G>C rs878853688
NM_000141.5(FGFR2):c.1025G>C (p.Cys342Ser) rs121918487
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu) rs78311289
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000143.4(FH):c.1064A>T (p.Glu355Val)
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser) rs80356482
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000159.4(GCDH):c.541G>A (p.Glu181Lys) rs745852738
NM_000162.5(GCK):c.1148C>T (p.Ser383Leu) rs777870079
NM_000162.5(GCK):c.1174C>T (p.Arg392Cys) rs1167124132
NM_000162.5(GCK):c.397T>G (p.Phe133Val)
NM_000162.5(GCK):c.449T>C (p.Phe150Ser) rs193922297
NM_000162.5(GCK):c.554T>C (p.Leu185Pro)
NM_000162.5(GCK):c.580-3C>A
NM_000162.5(GCK):c.601G>T (p.Ala201Ser) rs794727775
NM_000162.5(GCK):c.641dup (p.Tyr214Ter) rs2128821490
NM_000162.5(GCK):c.781G>A (p.Gly261Arg) rs104894008
NM_000162.5(GCK):c.878T>C (p.Ile293Thr) rs2128820046
NM_000162.5(GCK):c.940del (p.Leu314fs)
NM_000162.5(GCK):c.952G>A (p.Gly318Arg) rs193922340
NM_000166.6(GJB1):c.44G>A (p.Arg15Gln) rs863224974
NM_000166.6(GJB1):c.541G>A (p.Val181Met) rs879253909
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln) rs1060501002
NM_000171.4(GLRA1):c.896G>A (p.Arg299Gln) rs121918408
NM_000173.7(GP1BA):c.1775G>A (p.Arg592Gln)
NM_000173.7(GP1BA):c.746G>T (p.Gly249Val) rs121908062
NM_000179.3(MSH6):c.1571dup (p.Tyr524Ter) rs1553412966
NM_000179.3(MSH6):c.2150_2153del (p.Val717fs) rs267608058
NM_000179.3(MSH6):c.2281_2282del (p.Arg761fs) rs1114167721
NM_000179.3(MSH6):c.2569_2572del (p.Asp857fs) rs587779243
NM_000179.3(MSH6):c.2764C>T (p.Arg922Ter) rs587779246
NM_000179.3(MSH6):c.2943dup (p.Pro982fs) rs2104432135
NM_000179.3(MSH6):c.3104G>A (p.Arg1035Gln) rs730881801
NM_000179.3(MSH6):c.3108_3109del (p.Phe1037fs) rs1553414519
NM_000179.3(MSH6):c.3158_3159del (p.Cys1053fs) rs2104443138
NM_000179.3(MSH6):c.3261del (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3439-1G>T rs587779263
NM_000179.3(MSH6):c.3477C>A (p.Tyr1159Ter) rs398123231
NM_000179.3(MSH6):c.3560_3563del (p.Glu1187fs) rs2104521805
NM_000179.3(MSH6):c.3573dup (p.Val1192fs) rs1057517764
NM_000179.3(MSH6):c.3716_3717del (p.Ile1239fs) rs1064794384
NM_000179.3(MSH6):c.3720dup (p.Cys1241fs) rs2104541388
NM_000179.3(MSH6):c.3764A>T (p.Asp1255Val)
NM_000179.3(MSH6):c.4001G>C (p.Arg1334Pro) rs267608122
NM_000179.3(MSH6):c.850dup (p.Asp284fs) rs267608062
NM_000182.5(HADHA):c.1811del (p.Gly604fs) rs747985669
NM_000183.3(HADHB):c.1063C>A (p.Pro355Thr) rs1370999216
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs) rs786205431
NM_000193.4(SHH):c.431G>A (p.Arg144His)
NM_000199.5(SGSH):c.1295_1303del (p.Tyr432_Arg435delinsCys) rs1567914835
NM_000199.5(SGSH):c.733C>T (p.Arg245Cys) rs1455698449
NM_000208.4(INSR):c.704G>T (p.Cys235Phe)
NM_000212.3(ITGB3):c.1843A>G (p.Ile615Val)
NM_000217.3(KCNA1):c.1210G>A (p.Val404Ile) rs104894355
NM_000218.3(KCNQ1):c.1097G>A (p.Arg366Gln) rs199473410
NM_000218.3(KCNQ1):c.1106C>T (p.Pro369Leu) rs781369724
NM_000219.6(KCNE1):c.334_342dup (p.His112_Ala114dup) rs1374867074
NM_000222.3(KIT):c.1674G>C (p.Lys558Asn) rs200375589
NM_000223.4(KRT12):c.1148_1159del (p.Gln383_Val387delinsLeu) rs2143257204
NM_000223.4(KRT12):c.1151T>C (p.Leu384Pro) rs2143257255
NM_000237.3(LPL):c.867C>A (p.Tyr289Ter)
NM_000238.4(KCNH2):c.1810G>A (p.Gly604Ser) rs199473522
NM_000249.4(MLH1):c.150dup (p.Val51fs) rs63749956
NM_000249.4(MLH1):c.1554dup (p.Glu519Ter) rs63751689
NM_000249.4(MLH1):c.1589_1597del (p.Phe530_Gly532del)
NM_000249.4(MLH1):c.1595G>A (p.Gly532Asp) rs2084640841
NM_000249.4(MLH1):c.1896+1del rs267607868
NM_000249.4(MLH1):c.536TTG[1] (p.Val180del) rs786201988
NM_000249.4(MLH1):c.672del (p.Ser225fs) rs587779031
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) rs63751615
NM_000249.4(MLH1):c.827T>G (p.Ile276Arg) rs1253275403
NM_000249.4(MLH1):c.911del (p.Asp304fs) rs1553647969
NM_000251.3(MSH2):c.1120C>T (p.Gln374Ter) rs63750558
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter) rs63751108
NM_000251.3(MSH2):c.1276+1G>A rs267607950
NM_000251.3(MSH2):c.1697del (p.Asn566fs) rs63750737
NM_000251.3(MSH2):c.1759+1G>A rs587779108
NM_000251.3(MSH2):c.1993del (p.His665fs) rs1667251882
NM_000251.3(MSH2):c.209C>T (p.Ala70Val) rs587782481
NM_000251.3(MSH2):c.484G>A (p.Gly162Arg) rs63750624
NM_000251.3(MSH2):c.892C>T (p.Gln298Ter) rs63750934
NM_000256.3(MYBPC3):c.1224-19G>A rs587776699
NM_000256.3(MYBPC3):c.177_187del (p.Glu60fs) rs397515925
NM_000256.3(MYBPC3):c.2067+1G>A rs1444727212
NM_000256.3(MYBPC3):c.2096del (p.Pro699fs) rs397515947
NM_000256.3(MYBPC3):c.2309-2A>G rs111729952
NM_000256.3(MYBPC3):c.2449C>T (p.Arg817Trp) rs727503188
NM_000256.3(MYBPC3):c.2459G>C (p.Arg820Pro) rs2856655
NM_000256.3(MYBPC3):c.3357C>A (p.Tyr1119Ter) rs1565622952
NM_000256.3(MYBPC3):c.3471del (p.Val1158fs)
NM_000257.4(MYH7):c.1315A>G (p.Met439Val) rs370310929
NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) rs397516127
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp) rs121913632
NM_000257.4(MYH7):c.2631G>C (p.Met877Ile) rs1060505018
NM_000257.4(MYH7):c.2631G>T (p.Met877Ile) rs1060505018
NM_000257.4(MYH7):c.4493_4494delinsAT (p.Phe1498Tyr) rs2138645175
NM_000257.4(MYH7):c.4660G>A (p.Glu1554Lys) rs142694139
NM_000257.4(MYH7):c.983A>G (p.Glu328Gly)
NM_000258.3(MYL3):c.447G>T (p.Met149Ile) rs730880162
NM_000261.2(MYOC):c.1109C>T (p.Pro370Leu) rs74315330
NM_000261.2(MYOC):c.1349A>G (p.Asn450Ser)
NM_000261.2(MYOC):c.526del (p.Glu176fs) rs779307074
NM_000261.2(MYOC):c.844del (p.Gln282fs) rs774268708
NM_000264.5(PTCH1):c.1197G>A (p.Trp399Ter)
NM_000264.5(PTCH1):c.1729-11del rs779000277
NM_000268.4(NF2):c.1039G>T (p.Glu347Ter)
NM_000268.4(NF2):c.106A>G (p.Asn36Asp)
NM_000268.4(NF2):c.10del (p.Ala4fs) rs2064712705
NM_000268.4(NF2):c.1193T>C (p.Leu398Pro) rs2147082680
NM_000268.4(NF2):c.193C>T (p.Gln65Ter) rs2065661533
NM_000268.4(NF2):c.285CTT[1] (p.Phe96del) rs121434260
NM_000268.4(NF2):c.363+1G>A rs1601583839
NM_000268.4(NF2):c.363+3A>C rs1060503669
NM_000268.4(NF2):c.447G>T (p.Lys149Asn)
NM_000268.4(NF2):c.448-1G>A rs2146966216
NM_000268.4(NF2):c.476del (p.Lys159fs)
NM_000268.4(NF2):c.499G>T (p.Glu167Ter)
NM_000268.4(NF2):c.517-1G>A rs1064796632
NM_000268.4(NF2):c.553G>T (p.Glu185Ter) rs2146972508
NM_000268.4(NF2):c.586C>T (p.Arg196Ter) rs1555993336
NM_000277.3(PAH):c.60+2del
NM_000283.4(PDE6B):c.946G>A (p.Val316Met)
NM_000284.4(PDHA1):c.934_940del (p.Ser312fs) rs606231185
NM_000291.4(PGK1):c.164C>A (p.Ala55Asp) rs2149132087
NM_000295.5(SERPINA1):c.1178C>G (p.Pro393Arg) rs199422209
NM_000298.6(PKLR):c.1022G>C (p.Gly341Ala)
NM_000298.6(PKLR):c.823G>C (p.Gly275Arg)
NM_000304.4(PMP22):c.434del (p.Leu145fs) rs863225029
NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro) rs121918472
NM_000313.4(PROS1):c.684C>G (p.Cys228Trp)
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.178A>C (p.Lys60Gln)
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000314.8(PTEN):c.397G>C (p.Val133Leu)
NM_000314.8(PTEN):c.463T>C (p.Tyr155His) rs398123325
NM_000316.3(PTH1R):c.1393G>A (p.Glu465Lys) rs1683106396
NM_000317.3(PTS):c.351C>A (p.Asn117Lys) rs2135410460
NM_000321.3(RB1):c.1215+1G>A rs587776783
NM_000321.3(RB1):c.1333-13T>A
NM_000321.3(RB1):c.1389+5G>C rs1131690859
NM_000321.3(RB1):c.1389+6T>G rs2138141082
NM_000321.3(RB1):c.1399C>T (p.Arg467Ter) rs398123331
NM_000321.3(RB1):c.1623del (p.Asn541_Leu542insTer)
NM_000321.3(RB1):c.1633G>T (p.Glu545Ter) rs1948534542
NM_000321.3(RB1):c.1735C>T (p.Arg579Ter) rs121913305
NM_000321.3(RB1):c.2134T>C (p.Cys712Arg) rs137853296
NM_000321.3(RB1):c.2242G>T (p.Glu748Ter) rs121913297
NM_000321.3(RB1):c.2279T>C (p.Phe760Ser) rs1949430890
NM_000321.3(RB1):c.2520+3_2520+6del rs1131690858
NM_000321.3(RB1):c.2663+1G>A rs2138359672
NM_000321.3(RB1):c.409G>T (p.Glu137Ter) rs121913296
NM_000321.3(RB1):c.619C>T (p.Gln207Ter) rs2138107604
NM_000321.3(RB1):c.751C>T (p.Arg251Ter) rs1131690863
NM_000321.3(RB1):c.763C>T (p.Arg255Ter) rs587778842
NM_000321.3(RB1):c.796C>T (p.Gln266Ter)
NM_000321.3(RB1):c.958C>T (p.Arg320Ter) rs121913300
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp) rs61755792
NM_000325.6(PITX2):c.343_364del (p.Arg115fs) rs1057519483
NM_000325.6(PITX2):c.350C>T (p.Pro117Leu) rs1057519484
NM_000325.6(PITX2):c.430C>G (p.Arg144Gly) rs1057519485
NM_000325.6(PITX2):c.433G>C (p.Ala145Pro) rs1057519486
NM_000325.6(PITX2):c.714_735del (p.Thr239fs) rs1057519487
NM_000325.6(PITX2):c.784_785del (p.Ser262fs) rs1057519488
NM_000325.6(PITX2):c.807T>A (p.Cys269Ter) rs1057519489
NM_000329.3(RPE65):c.1067del (p.Asn356fs) rs281865520
NM_000329.3(RPE65):c.1087C>T (p.Pro363Ser)
NM_000329.3(RPE65):c.1333G>C (p.Asp445His)
NM_000330.4(RS1):c.589C>T (p.Arg197Cys) rs281865354
NM_000334.4(SCN4A):c.3733G>A (p.Gly1245Ser)
NM_000335.5(SCN5A):c.2383G>C (p.Glu795Gln)
NM_000335.5(SCN5A):c.5620_5622dup (p.Met1874dup) rs1474459822
NM_000346.4(SOX9):c.432-2A>T rs1908139210
NM_000350.3(ABCA4):c.1834C>T (p.Gln612Ter) rs1057517700
NM_000350.3(ABCA4):c.2613G>A (p.Trp871Ter) rs1570382663
NM_000350.3(ABCA4):c.5530G>T (p.Gly1844Cys) rs2101008373
NM_000350.3(ABCA4):c.6386+1G>A rs745654673
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter) rs61753046
NM_000352.6(ABCC8):c.3130_3149del (p.Thr1044fs) rs886041392
NM_000358.3(TGFBI):c.1612A>C (p.Thr538Pro) rs2126915354
NM_000358.3(TGFBI):c.1663C>T (p.Arg555Trp) rs121909208
NM_000358.3(TGFBI):c.1664G>A (p.Arg555Gln) rs121909209
NM_000358.3(TGFBI):c.1864A>C (p.Asn622His) rs2126917690
NM_000358.3(TGFBI):c.370C>A (p.Arg124Ser) rs121909210
NM_000359.3(TGM1):c.814T>C (p.Ser272Pro) rs764040146
NM_000365.6(TPI1):c.544-1G>C rs2138094606
NM_000368.5(TSC1):c.1415G>A (p.Ser472Asn) rs1203620977
NM_000369.5(TSHR):c.1358T>C (p.Met453Thr) rs121908864
NM_000369.5(TSHR):c.1839C>A (p.Tyr613Ter)
NM_000371.4(TTR):c.94C>G (p.Leu32Val) rs2144406525
NM_000372.5(TYR):c.1493del (p.Leu498fs) rs763648121
NM_000374.5(UROD):c.725del (p.Lys242fs)
NM_000383.4(AIRE):c.349del (p.Ala117fs)
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000384.3(APOB):c.2454G>C (p.Arg818Ser)
NM_000388.4(CASR):c.1212C>T (p.Val404=) rs967661303
NM_000388.4(CASR):c.1786A>C (p.Thr596Pro)
NM_000388.4(CASR):c.190A>G (p.Asn64Asp) rs2107627423
NM_000388.4(CASR):c.2054G>A (p.Gly685Asp)
NM_000388.4(CASR):c.205C>A (p.Arg69Ser)
NM_000388.4(CASR):c.2096C>T (p.Thr699Ile) rs2107649929
NM_000388.4(CASR):c.2243C>G (p.Pro748Arg) rs193922433
NM_000388.4(CASR):c.2516T>A (p.Ile839Asn) rs2107650645
NM_000388.4(CASR):c.379G>A (p.Glu127Lys) rs2074565202
NM_000392.5(ABCC2):c.3614+1G>C rs2133124899
NM_000393.5(COL5A2):c.553G>A (p.Asp185Asn) rs775933907
NM_000398.7(CYB5R3):c.182G>A (p.Arg61His)
NM_000402.4(G6PD):c.1179C>A (p.Asn393Lys) rs137852329
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000407.5(GP1BB):c.148C>A (p.Pro50Thr)
NM_000407.5(GP1BB):c.240_246dup (p.Thr83fs)
NM_000419.5(ITGA2B):c.1545-1G>A
NM_000419.5(ITGA2B):c.2946G>A (p.Val982=)
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs) rs202247790
NM_000426.4(LAMA2):c.5122G>T (p.Glu1708Ter)
NM_000426.4(LAMA2):c.5266A>T (p.Lys1756Ter) rs2114674584
NM_000429.3(MAT1A):c.315C>A (p.Asn105Lys)
NM_000435.3(NOTCH3):c.3970T>A (p.Cys1324Ser)
NM_000435.3(NOTCH3):c.431G>T (p.Cys144Phe)
NM_000443.4(ABCB4):c.2318G>T (p.Gly773Val) rs1554401811
NM_000444.6(PHEX):c.1699C>T (p.Arg567Ter) rs137853271
NM_000444.6(PHEX):c.1996_1999del (p.Gln666fs)
NM_000451.4(SHOX):c.877T>C (p.Ter293Arg) rs137852559
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
NM_000458.4(HNF1B):c.809+1G>T
NM_000463.3(UGT1A1):c.1220del (p.Lys407fs) rs558109660
NM_000474.4(TWIST1):c.352C>A (p.Arg118Ser) rs1554442015
NM_000478.6(ALPL):c.568_570del (p.Asn190del) rs1644529451
NM_000488.4(SERPINC1):c.1003del (p.Val335fs)
NM_000488.4(SERPINC1):c.1121A>G (p.Asp374Gly)
NM_000488.4(SERPINC1):c.1169dup (p.Arg391fs)
NM_000489.6(ATRX):c.2011A>T (p.Asn671Tyr)
NM_000489.6(ATRX):c.371-2_371-1insAAG
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.3802C>G (p.Gln1268Glu)
NM_000492.4(CFTR):c.4354C>T (p.His1452Tyr)
NM_000496.3(CRYBB2):c.427T>C (p.Ser143Pro)
NM_000503.6(EYA1):c.1598-2del
NM_000503.6(EYA1):c.979T>C (p.Trp327Arg) rs2128948223
NM_000512.5(GALNS):c.611A>G (p.Asn204Ser) rs569725936
NM_000516.7(GNAS):c.845T>G (p.Leu282Arg) rs2146289554
NM_000517.6(HBA2):c.*93_*94del rs63751268
NM_000517.6(HBA2):c.95+2_95+6del rs41474145
NM_000518.4(HBB):c.206T>C (p.Leu69Pro) rs33972593
NM_000518.5(HBB):c.126_129del (p.Phe42fs) rs80356821
NM_000518.5(HBB):c.233_234del (p.His78fs) rs2133588176
NM_000518.5(HBB):c.279C>G (p.His93Gln)
NM_000518.5(HBB):c.2T>C (p.Met1Thr) rs33941849
NM_000518.5(HBB):c.316-14T>G rs35703285
NM_000518.5(HBB):c.93-22_95del rs193922563
NM_000525.4(KCNJ11):c.1058A>G (p.His353Arg)
NM_000527.5(LDLR):c.1277T>C (p.Leu426Pro) rs879254851
NM_000527.5(LDLR):c.136T>G (p.Cys46Gly) rs879254415
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.326G>A (p.Cys109Tyr) rs121908042
NM_000527.5(LDLR):c.373C>T (p.Gln125Ter) rs875989899
NM_000527.5(LDLR):c.463T>G (p.Cys155Gly) rs879254535
NM_000527.5(LDLR):c.621C>T (p.Gly207=) rs121908044
NM_000527.5(LDLR):c.680_681del (p.Asp227fs) rs387906305
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000527.5(LDLR):c.82G>T (p.Glu28Ter) rs551747280
NM_000527.5(LDLR):c.938_939delinsAT (p.Cys313Tyr) rs875989910
NM_000531.6(OTC):c.717G>T (p.Glu239Asp)
NM_000535.7(PMS2):c.1639dup (p.Ser547fs) rs863224498
NM_000535.7(PMS2):c.2448GAT[1] (p.Met817del) rs1781510137
NM_000535.7(PMS2):c.705G>A (p.Gln235=) rs876660872
NM_000535.7(PMS2):c.903+1G>C rs1554300689
NM_000539.3(RHO):c.553T>C (p.Cys185Arg) rs1236550448
NM_000540.3(RYR1):c.12443A>C (p.Asn4148Thr) rs1213878810
NM_000540.3(RYR1):c.9257A>T (p.Glu3086Val)
NM_000545.8(HNF1A):c.1522G>T (p.Glu508Ter)
NM_000545.8(HNF1A):c.404del (p.Asp135fs) rs2135832632
NM_000545.8(HNF1A):c.475C>T (p.Arg159Trp) rs765432081
NM_000545.8(HNF1A):c.661C>T (p.Gln221Ter) rs2135839643
NM_000545.8(HNF1A):c.863_864insC (p.Pro289fs) rs766191969
NM_000546.6(TP53):c.454C>T (p.Pro152Ser) rs767328513
NM_000546.6(TP53):c.493C>T (p.Gln165Ter) rs730882001
NM_000546.6(TP53):c.695T>A (p.Ile232Asn) rs587781589
NM_000546.6(TP53):c.773A>G (p.Glu258Gly) rs1060501201
NM_000546.6(TP53):c.814G>T (p.Val272Leu) rs121912657
NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp) rs45517258
NM_000548.5(TSC2):c.3095G>A (p.Arg1032Gln) rs45491698
NM_000548.5(TSC2):c.4507C>T (p.Gln1503Ter) rs45517348
NM_000548.5(TSC2):c.4918C>T (p.His1640Tyr) rs45485092
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu) rs45483392
NM_000548.5(TSC2):c.884C>A (p.Ala295Asp) rs1596288578
NM_000551.4(VHL):c.189dup (p.Arg64fs) rs1553619402
NM_000551.4(VHL):c.224TCT[1] (p.Phe76del) rs5030648
NM_000551.4(VHL):c.341-1G>A rs1575927648
NM_000551.4(VHL):c.485G>A (p.Cys162Tyr) rs397516444
NM_000551.4(VHL):c.575del (p.Pro192fs) rs2125130735
NM_000552.5(VWF):c.1309_1326del (p.Asp437_Arg442del) rs267607305
NM_000552.5(VWF):c.1886A>C (p.Tyr629Ser)
NM_000552.5(VWF):c.2072del (p.Pro691fs) rs267607309
NM_000552.5(VWF):c.2308C>T (p.Pro770Ser)
NM_000552.5(VWF):c.2618C>T (p.Ala873Val)
NM_000552.5(VWF):c.276dup (p.Asp93Ter) rs61753988
NM_000552.5(VWF):c.3108+5G>C rs61748495
NM_000552.5(VWF):c.3247G>A (p.Val1083Ile)
NM_000552.5(VWF):c.3376T>C (p.Cys1126Arg)
NM_000552.5(VWF):c.3517T>C (p.Cys1173Arg)
NM_000552.5(VWF):c.3692A>G (p.Asn1231Ser) rs61749368
NM_000552.5(VWF):c.3749C>G (p.Ala1250Gly)
NM_000552.5(VWF):c.3788C>T (p.Ser1263Leu)
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.5(VWF):c.3845T>C (p.Leu1282Pro) rs61749378
NM_000552.5(VWF):c.3916C>T (p.Arg1306Trp) rs61749384
NM_000552.5(VWF):c.3946G>A (p.Val1316Met) rs61749397
NM_000552.5(VWF):c.4120C>T (p.Arg1374Cys) rs61750071
NM_000552.5(VWF):c.4121G>A (p.Arg1374His) rs61750072
NM_000552.5(VWF):c.4247T>C (p.Ile1416Thr) rs61750081
NM_000552.5(VWF):c.4249G>T (p.Gly1417Trp) rs2136412846
NM_000552.5(VWF):c.4705C>T (p.Arg1569Cys)
NM_000552.5(VWF):c.4883T>C (p.Ile1628Thr) rs61750584
NM_000552.5(VWF):c.5314delG
NM_000552.5(VWF):c.573G>C (p.Trp191Cys)
NM_000552.5(VWF):c.6798+2T>A
NM_000552.5(VWF):c.7730-3C>G
NM_000554.6(CRX):c.263A>G (p.Lys88Arg) rs1001151383
NM_000642.3(AGL):c.3362G>T (p.Arg1121Met) rs1653326843
NM_000642.3(AGL):c.3816_3817del (p.Gly1273fs) rs867341758
NM_000642.3(AGL):c.3911del (p.Asn1304fs) rs745757264
NM_000719.7(CACNA1C):c.1276G>A (p.Glu426Lys)
NM_000719.7(CACNA1C):c.1604T>C (p.Phe535Ser)
NM_000719.7(CACNA1C):c.2409G>T (p.Lys803Asn)
NM_000719.7(CACNA1C):c.3085A>G (p.Ile1029Val)
NM_000829.4(GRIA4):c.1564A>G (p.Ile522Val)
NM_000834.5(GRIN2B):c.1658C>T (p.Pro553Leu) rs397514556
NM_000834.5(GRIN2B):c.3259del (p.Asp1087fs) rs2136405082
NM_000834.5(GRIN2B):c.3937_3940del (p.Glu1313fs)
NM_000834.5(GRIN2B):c.448A>G (p.Ile150Val) rs796052570
NM_000875.5(IGF1R):c.2T>A (p.Met1Lys)
NM_000969.5(RPL5):c.3+1G>A
NM_001001548.3(CD36):c.332_333del (p.Thr111fs) rs572295823
NM_001003694.2(BRPF1):c.1182_1183del (p.Ala396fs) rs1575155995
NM_001003694.2(BRPF1):c.898G>A (p.Val300Met) rs2125500407
NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs) rs397517021
NM_001005273.3(CHD3):c.2912A>C (p.Asp971Ala)
NM_001005273.3(CHD3):c.4043A>C (p.Asn1348Thr)
NM_001005373.4(LRSAM1):c.643C>A (p.Pro215Thr) rs765389102
NM_001007527.2(LMBRD2):c.553dup (p.Ile185fs)
NM_001009944.3(PKD1):c.11116A>G (p.Lys3706Glu) rs2151704349
NM_001009944.3(PKD1):c.11257C>G (p.Arg3753Gly)
NM_001009944.3(PKD1):c.12458T>G (p.Val4153Gly) rs2151678778
NM_001009944.3(PKD1):c.6982G>T (p.Glu2328Ter) rs2151783909
NM_001010892.3(RSPH4A):c.2095G>A (p.Ala699Thr) rs372304999
NM_001018005.2(TPM1):c.533G>A (p.Arg178His) rs397516375
NM_001018005.2(TPM1):c.7G>T (p.Ala3Ser)
NM_001020658.2(PUM1):c.213dup (p.Ala72fs) rs2124008285
NM_001024630.4(RUNX2):c.506G>A (p.Arg169Gln) rs104893995
NM_001024630.4(RUNX2):c.884del (p.Pro295fs) rs2150421218
NM_001029883.3(PCARE):c.2185A>G (p.Thr729Ala)
NM_001029896.2(WDR45):c.2T>C (p.Met1Thr) rs1569523565
NM_001029896.2(WDR45):c.827+1G>C rs1557083958
NM_001031710.3(KLHL7):c.458C>T (p.Ala153Val) rs137853113
NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln) rs796053356
NM_001034116.2(EIF2B4):c.1291A>G (p.Asn431Asp)
NM_001034853.2(RPGR):c.2442_2445del (p.Gly817fs) rs1569237077
NM_001034853.2(RPGR):c.3238C>T (p.Gln1080Ter)
NM_001038.6(SCNN1A):c.1629G>A (p.Thr543=)
NM_001040142.2(SCN2A):c.1267G>C (p.Val423Leu) rs796053180
NM_001041.4(SI):c.5279G>A (p.Gly1760Asp) rs145556619
NM_001042492.3(NF1):c.1527+1G>C rs1060500331
NM_001042492.3(NF1):c.1845G>A (p.Lys615=) rs1131691080
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg) rs199474738
NM_001042492.3(NF1):c.2326-3T>G rs876658946
NM_001042492.3(NF1):c.3113+1G>T rs267606599
NM_001042492.3(NF1):c.3144G>A (p.Trp1048Ter) rs1555614635
NM_001042492.3(NF1):c.3496+2T>C rs766143785
NM_001042492.3(NF1):c.4074_4075delinsAA (p.Pro1359Thr) rs1555617362
NM_001042492.3(NF1):c.4337T>C (p.Leu1446Pro) rs199474733
NM_001042492.3(NF1):c.5729C>G (p.Ser1910Cys) rs751904277
NM_001042492.3(NF1):c.6564dup (p.Pro2189fs) rs2151556401
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) rs772295894
NM_001042492.3(NF1):c.853del (p.Ser285fs)
NM_001042492.3(NF1):c.997dup (p.Tyr333fs) rs1567835183
NM_001042750.2(STAG2):c.671T>C (p.Met224Thr)
NM_001048174.2(MUTYH):c.226T>G (p.Tyr76Asp) rs1060501344
NM_001065.4(TNFRSF1A):c.236C>T (p.Thr79Met) rs104895219
NM_001077415.3(CRELD1):c.565G>A (p.Gly189Ser) rs2124849361
NM_001080449.3(DNA2):c.1213T>C (p.Tyr405His) rs2133402393
NM_001081550.2(THOC2):c.1010T>C (p.Val337Ala)
NM_001083116.3(PRF1):c.1284G>A (p.Trp428Ter)
NM_001083614.2(EARS2):c.212del (p.Phe71fs) rs778413603
NM_001083614.2(EARS2):c.236A>T (p.Asp79Val)
NM_001083619.3(GRIA2):c.506del (p.Ala169fs) rs2126885680
NM_001083962.2(TCF4):c.1726C>T (p.Arg576Ter) rs1555710726
NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu) rs141621969
NM_001098671.2(RASGRP2):c.371+5G>T
NM_001099274.3(TINF2):c.1249A>G (p.Lys417Glu)
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001105247.2(ARMC5):c.1199_1224dup (p.Ala409fs)
NM_001105247.2(ARMC5):c.337_338dup (p.Val114fs)
NM_001109878.2(TBX22):c.592C>T (p.Arg198Cys) rs776905471
NM_001110556.2(FLNA):c.1119C>G (p.Tyr373Ter) rs782121971
NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu) rs28935473
NM_001110556.2(FLNA):c.7913C>T (p.Pro2638Leu)
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001113378.2(FANCI):c.3355G>T (p.Ala1119Ser)
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu) rs606231451
NM_001114753.3(ENG):c.-127C>T rs1060501408
NM_001114753.3(ENG):c.111del (p.Glu38fs)
NM_001114753.3(ENG):c.511C>T (p.Arg171Ter) rs1554810490
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln) rs121908217
NM_001127222.2(CACNA1A):c.2293A>G (p.Lys765Glu)
NM_001127222.2(CACNA1A):c.5419G>A (p.Ala1807Thr) rs1555736565
NM_001127222.2(CACNA1A):c.6103G>T (p.Ala2035Ser)
NM_001127255.2(NLRP7):c.2078G>C (p.Arg693Pro) rs104895502
NM_001127392.3(MYRF):c.648C>A (p.Tyr216Ter) rs753113267
NM_001129820.2(SLFN14):c.2637del (p.Ser880fs)
NM_001130987.2(DYSF):c.1127T>C (p.Leu376Pro) rs2152742282
NM_001130987.2(DYSF):c.5547-2A>G rs1238293747
NM_001131016.2(CIZ1):c.2023G>C (p.Asp675His)
NM_001134707.2(SARDH):c.1442G>A (p.Arg481His)
NM_001134831.2(AHI1):c.3105_3106del (p.Gln1035fs)
NM_001142800.2(EYS):c.4976T>G (p.Leu1659Ter)
NM_001142864.4(PIEZO1):c.1297-1G>A rs1905219617
NM_001142864.4(PIEZO1):c.2330-9_2330-2dup
NM_001163809.2(WDR81):c.1366C>T (p.Arg456Trp) rs1404957058
NM_001163809.2(WDR81):c.3843C>A (p.Tyr1281Ter) rs2151169266
NM_001164508.2(NEB):c.19573C>T (p.Pro6525Ser)
NM_001164508.2(NEB):c.25333C>T (p.Gln8445Ter) rs2152763931
NM_001164508.2(NEB):c.6075+3A>T rs986325764
NM_001164508.2(NEB):c.9465del (p.Ile3156fs) rs1553939600
NM_001170535.3(ATAD3A):c.547A>G (p.Lys183Glu) rs1193481758
NM_001170629.2(CHD8):c.4875G>A (p.Trp1625Ter) rs1555314116
NM_001172303.3(MASTL):c.2519G>A (p.Trp840Ter)
NM_001174089.2(SLC4A11):c.379G>A (p.Glu127Lys) rs1482631297
NM_001174096.2(ZEB1):c.623dup (p.Tyr208Ter) rs2139506946
NM_001174096.2(ZEB1):c.688-1G>A rs2139622959
NM_001174096.2(ZEB1):c.692_693del (p.His231fs)
NM_001174147.2(LMX1B):c.706G>C (p.Ala236Pro) rs1588307140
NM_001174147.2(LMX1B):c.741+1G>A rs1427331961
NM_001190274.2(FBXO11):c.1352T>C (p.Ile451Thr)
NM_001197104.2(KMT2A):c.10064dup (p.Thr3356fs) rs2134409720
NM_001197104.2(KMT2A):c.8992A>T (p.Ile2998Phe)
NM_001199298.2(UIMC1):c.1732del (p.His578fs)
NM_001204.7(BMPR2):c.48G>A (p.Trp16Ter) rs1085307154
NM_001206744.2(TPO):c.2619G>A (p.Trp873Ter)
NM_001206744.2(TPO):c.455G>A (p.Arg152Lys)
NM_001206927.2(DNAH8):c.10543G>C (p.Glu3515Gln)
NM_001206927.2(DNAH8):c.1157A>G (p.Asp386Gly)
NM_001206927.2(DNAH8):c.762+1G>A
NM_001242896.3(DEPDC5):c.3994C>T (p.Arg1332Ter) rs886039269
NM_001243133.2(NLRP3):c.1316C>T (p.Ala439Val) rs121908146
NM_001252024.2(TRPM1):c.2860T>G (p.Cys954Gly)
NM_001256317.3(TMPRSS3):c.323-6G>A rs374793617
NM_001256789.3(CACNA1F):c.3019G>A (p.Gly1007Arg) rs1249437161
NM_001256789.3(CACNA1F):c.3458C>A (p.Ala1153Asp)
NM_001257291.2(SLC9A7):c.706C>A (p.Leu236Ile)
NM_001267550.2(TTN):c.18391_18394del (p.Gly6131fs) rs2154307613
NM_001267550.2(TTN):c.50914_50918del (p.Leu16972fs) rs2056249919
NM_001267550.2(TTN):c.62810_62813dup (p.Arg20939fs)
NM_001267550.2(TTN):c.85200_85203del (p.Arg28401fs) rs1703415128
NM_001270.4(CHD1):c.4760A>G (p.Asp1587Gly)
NM_001270508.2(TNFAIP3):c.547C>G (p.Arg183Gly) rs1423560438
NM_001270974.2(HYDIN):c.8093A>T (p.Lys2698Met) rs2143778645
NM_001270974.2(HYDIN):c.8185G>A (p.Gly2729Arg)
NM_001273.5(CHD4):c.1117T>C (p.Cys373Arg)
NM_001277115.2(DNAH11):c.12403C>A (p.Leu4135Ile)
NM_001277115.2(DNAH11):c.13130C>T (p.Ser4377Phe)
NM_001277115.2(DNAH11):c.13472_13490dup (p.Lys4497fs)
NM_001277115.2(DNAH11):c.7572G>T (p.Leu2524Phe)
NM_001278064.2(GRM1):c.851C>T (p.Ala284Val) rs1448466753
NM_001278293.3(ARL6):c.40AAG[2] (p.Lys16del) rs748472414
NM_001283009.2(RTEL1):c.106G>A (p.Val36Met)
NM_001289808.2(CRYAB):c.503C>G (p.Ala168Gly) rs2137378339
NM_001303052.2(MYT1L):c.2519_2520+3del
NM_001320752.2(STS):c.1108G>T (p.Gly370Cys)
NM_001321075.3(DLG4):c.642G>A (p.Ala214=) rs2142883774
NM_001330078.2(NRXN1):c.2635T>C (p.Tyr879His)
NM_001330078.2(NRXN1):c.3499C>T (p.Arg1167Ter) rs199546979
NM_001348716.2(KDM6B):c.3046dup (p.Arg1016fs) rs2151378140
NM_001348800.3(ZBTB20):c.1431dup (p.Arg478fs)
NM_001349206.2(LPIN1):c.1714-126A>G
NM_001349338.3(FOXP1):c.738del (p.Asn247fs) rs2106872055
NM_001349338.3(FOXP1):c.869G>C (p.Ser290Thr) rs2106869182
NM_001353345.2(SETD1B):c.3164C>G (p.Ser1055Cys) rs2137567257
NM_001356.5(DDX3X):c.1852_1866del (p.Ala618_Arg622del)
NM_001356.5(DDX3X):c.372_373del (p.Asn124fs) rs1057518171
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001363.5(DKC1):c.1240C>G (p.Gln414Glu)
NM_001363540.2(DOCK4):c.2689C>T (p.Pro897Ser)
NM_001363711.2(DUOX2):c.127A>T (p.Asn43Tyr)
NM_001363711.2(DUOX2):c.1479dup (p.Gly494fs)
NM_001363711.2(DUOX2):c.1873C>T (p.Arg625Ter) rs770083296
NM_001363711.2(DUOX2):c.2654G>T (p.Arg885Leu) rs181461079
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs) rs530719719
NM_001363711.2(DUOX2):c.3134_3135del (p.Val1045fs)
NM_001363711.2(DUOX2):c.4240A>T (p.Ile1414Phe)
NM_001363711.2(DUOX2):c.871G>A (p.Ala291Thr)
NM_001364905.1(LRBA):c.7088T>A (p.Phe2363Tyr)
NM_001365902.3(NFIX):c.765_766del (p.Ile256fs) rs2145434937
NM_001366385.1(CARD14):c.613T>A (p.Tyr205Asn) rs182551076
NM_001367823.1(ARHGEF18):c.3161C>T (p.Ala1054Val)
NM_001368894.2(PAX6):c.114_121del (p.Pro39fs) rs1554985737
NM_001368894.2(PAX6):c.1225+1G>A rs1554982537
NM_001368894.2(PAX6):c.280_283dup (p.Pro95fs) rs1554985378
NM_001368894.2(PAX6):c.367G>T (p.Glu123Ter) rs1554985305
NM_001368894.2(PAX6):c.3G>T (p.Met1Ile) rs1554986754
NM_001368894.2(PAX6):c.580C>T (p.Gln194Ter) rs1554983571
NM_001368894.2(PAX6):c.649C>T (p.Arg217Ter) rs121907916
NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter) rs886041222
NM_001368894.2(PAX6):c.862C>T (p.Gln288Ter) rs1554983229
NM_001369.3(DNAH5):c.11456-7C>T
NM_001369.3(DNAH5):c.4199C>T (p.Pro1400Leu) rs922374480
NM_001369.3(DNAH5):c.6000C>A (p.Tyr2000Ter) rs773208371
NM_001369.3(DNAH5):c.6049C>G (p.Arg2017Gly)
NM_001369.3(DNAH5):c.7631C>T (p.Thr2544Met)
NM_001369268.1(ACAN):c.492C>A (p.Tyr164Ter) rs375322679
NM_001369268.1(ACAN):c.7389C>T (p.Gly2463=) rs747217927
NM_001370100.5(ZMYND11):c.1678A>C (p.Lys560Gln)
NM_001370259.2(MEN1):c.1A>G (p.Met1Val) rs386134250
NM_001370259.2(MEN1):c.445+1G>T
NM_001371623.1(TCOF1):c.4023G>T (p.Lys1341Asn) rs199890846
NM_001371928.1(AHDC1):c.3289G>A (p.Glu1097Lys)
NM_001372.4(DNAH9):c.11209T>C (p.Ser3737Pro) rs2151004315
NM_001372.4(DNAH9):c.2021del (p.Ser674fs)
NM_001372066.1(TFAP2A):c.687C>G (p.Tyr229Ter) rs2114014460
NM_001372066.1(TFAP2A):c.791G>A (p.Gly264Glu) rs121909575
NM_001374385.1(ATP8B1):c.1573C>T (p.Arg525Ter) rs770257115
NM_001374675.1(HSF4):c.899G>T (p.Gly300Val)
NM_001374828.1(ARID1B):c.1293_1308del (p.Gly434fs)
NM_001374828.1(ARID1B):c.5189_5194delinsAGGCT (p.Thr1730fs)
NM_001375524.1(TRRAP):c.9797G>A (p.Arg3266Gln)
NM_001376.5(DYNC1H1):c.5557G>A (p.Val1853Met)
NM_001376.5(DYNC1H1):c.7846G>A (p.Glu2616Lys) rs1555410285
NM_001377.3(DYNC2H1):c.2579_2580delinsAA (p.Trp860Ter)
NM_001377.3(DYNC2H1):c.6614G>A (p.Arg2205His) rs137853031
NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu) rs63751273
NM_001377304.1(GFI1B):c.649-5G>C
NM_001377304.1(GFI1B):c.869A>G (p.Asn290Ser)
NM_001378183.1(PIEZO2):c.3358T>C (p.Phe1120Leu)
NM_001378418.1(TCF20):c.364dup (p.Gln122fs) rs777979354
NM_001378452.1(ITPR1):c.1510A>G (p.Arg504Gly) rs2093873520
NM_001378457.1(DMXL2):c.418G>A (p.Asp140Asn) rs781499566
NM_001378743.1(CYLD):c.2155A>G (p.Met719Val) rs1971438573
NM_001378743.1(CYLD):c.2723dup (p.Cys909fs)
NM_001378964.1(CDON):c.1177G>A (p.Gly393Arg)
NM_001378969.1(KCND3):c.1174G>A (p.Val392Ile) rs786205867
NM_001379291.1(BRD4):c.2825C>T (p.Thr942Met)
NM_001379403.1(WDR26):c.1498del (p.His500fs) rs2102897826
NM_001379451.1(BCORL1):c.5041C>T (p.Pro1681Ser)
NM_001393769.1(MED12L):c.2221C>T (p.Gln741Ter) rs1724263784
NM_001393769.1(MED12L):c.5450A>T (p.Asp1817Val)
NM_001399.5(EDA):c.252del (p.Gly85fs) rs1569272328
NM_001421.4(ELF4):c.668A>T (p.Asn223Ile)
NM_001429.4(EP300):c.3098C>T (p.Ser1033Leu)
NM_001453.3(FOXC1):c.100_109del (p.Gly34fs) rs1057519471
NM_001453.3(FOXC1):c.116_123del (p.Ala39fs) rs1057519472
NM_001453.3(FOXC1):c.1265C>A (p.Ser422Ter) rs1057519482
NM_001453.3(FOXC1):c.1491C>G (p.Tyr497Ter) rs760676014
NM_001453.3(FOXC1):c.256C>T (p.Leu86Phe) rs886039568
NM_001453.3(FOXC1):c.268G>A (p.Ala90Thr) rs1057519473
NM_001453.3(FOXC1):c.269C>A (p.Ala90Asp) rs1057519474
NM_001453.3(FOXC1):c.316C>T (p.Gln106Ter) rs1057519475
NM_001453.3(FOXC1):c.457A>C (p.Thr153Pro) rs1057519476
NM_001453.3(FOXC1):c.487G>T (p.Glu163Ter) rs1057519477
NM_001453.3(FOXC1):c.599_617del (p.Gln200fs) rs1057519478
NM_001453.3(FOXC1):c.666_681del (p.Ile223fs) rs1057519479
NM_001453.3(FOXC1):c.718_719del (p.Leu240fs) rs1057519480
NM_001453.3(FOXC1):c.925_949del (p.Ser309fs) rs1057519481
NM_001453.3(FOXC1):c.99_108del (p.Gly34fs) rs2113110837
NM_001454.4(FOXJ1):c.1015G>A (p.Ala339Thr)
NM_001454.4(FOXJ1):c.403C>G (p.Gln135Glu)
NM_001457.4(FLNB):c.5842C>T (p.Arg1948Ter) rs775301566
NM_001458.5(FLNC):c.6883C>T (p.Gln2295Ter) rs1585169831
NM_001481.3(GAS8):c.245G>A (p.Arg82Gln) rs884928
NM_001481.3(GAS8):c.67C>G (p.Pro23Ala)
NM_001555.5(IGSF1):c.113C>T (p.Pro38Leu)
NM_001563.4(IMPG1):c.742A>C (p.Lys248Gln)
NM_001609.4(ACADSB):c.824del (p.Ile275fs) rs2133484638
NM_001615.4(ACTG2):c.593G>T (p.Gly198Val)
NM_001655.5(ARCN1):c.431dup (p.Arg145fs) rs2135542081
NM_001655.5(ARCN1):c.508C>T (p.Arg170Ter) rs1018525321
NM_001715.3(BLK):c.868G>T (p.Ala290Ser)
NM_001792.5(CDH2):c.1133A>G (p.Asn378Ser)
NM_001830.4(CLCN4):c.856T>A (p.Phe286Ile) rs2147179487
NM_001844.5(COL2A1):c.1420-1G>A
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys) rs121912884
NM_001844.5(COL2A1):c.2293G>A (p.Gly765Ser)
NM_001844.5(COL2A1):c.2748CCCTGGTCC[3] (p.Pro922_Ser923insProGlyPro) rs2136528419
NM_001845.6(COL4A1):c.146G>A (p.Gly49Asp)
NM_001846.4(COL4A2):c.5125A>G (p.Met1709Val) rs370681819
NM_001848.3(COL6A1):c.1123G>A (p.Glu375Lys)
NM_001849.4(COL6A2):c.105C>A (p.Asn35Lys)
NM_001851.6(COL9A1):c.1450-1G>T
NM_001851.6(COL9A1):c.1864G>A (p.Gly622Arg)
NM_001854.4(COL11A1):c.1245+6T>A rs2101944852
NM_001854.4(COL11A1):c.3276+1G>C rs2101406339
NM_001876.4(CPT1A):c.811A>G (p.Arg271Gly)
NM_001887.4(CRYBB1):c.607G>A (p.Gly203Arg)
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) rs121913412
NM_001972.4(ELANE):c.173C>T (p.Thr58Ile)
NM_001972.4(ELANE):c.413T>A (p.Leu138Gln)
NM_001987.5(ETV6):c.641C>T (p.Pro214Leu) rs724159947
NM_001999.4(FBN2):c.3260G>A (p.Gly1087Glu) rs1751115198
NM_001999.4(FBN2):c.3967T>C (p.Cys1323Arg)
NM_002024.6(FMR1):c.1831C>T (p.Arg611Cys) rs961588789
NM_002049.4(GATA1):c.652G>A (p.Asp218Asn) rs104894808
NM_002055.5(GFAP):c.715C>T (p.Arg239Cys) rs58064122
NM_002226.5(JAG2):c.2308G>A (p.Gly770Arg)
NM_002335.4(LRP5):c.4717T>A (p.Tyr1573Asn)
NM_002381.5(MATN3):c.361C>T (p.Arg121Trp) rs104893637
NM_002470.4(MYH3):c.2015G>A (p.Arg672His) rs121913617
NM_002473.6(MYH9):c.2104C>T (p.Arg702Cys) rs80338826
NM_002473.6(MYH9):c.2482T>C (p.Trp828Arg) rs2146345102
NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys) rs80338829
NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn) rs80338831
NM_002473.6(MYH9):c.4354GAG[1] (p.Glu1453del)
NM_002473.6(MYH9):c.5521G>A (p.Glu1841Lys) rs80338834
NM_002473.6(MYH9):c.5797C>T (p.Arg1933Ter) rs80338835
NM_002547.3(OPHN1):c.702+4A>T rs2147481894
NM_002582.4(PARN):c.1069C>A (p.Pro357Thr) rs767096267
NM_002585.4(PBX1):c.700C>T (p.Arg234Trp) rs1218945005
NM_002693.3(POLG):c.3151G>T (p.Gly1051Trp) rs121918049
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) rs121918469
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) rs397507505
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg) rs397507523
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser) rs121918463
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_002880.4(RAF1):c.775T>A (p.Ser259Thr) rs3730271
NM_002968.3(SALL1):c.601C>T (p.Gln201Ter) rs2143450145
NM_003000.3(SDHB):c.572G>A (p.Cys191Tyr) rs2077978456
NM_003001.5(SDHC):c.473T>C (p.Leu158Pro)
NM_003002.4(SDHD):c.112C>T (p.Arg38Ter) rs80338843
NM_003002.4(SDHD):c.64C>T (p.Arg22Ter) rs104894306
NM_003070.5(SMARCA2):c.1676GGA[2] (p.Arg561_Arg562del) rs754525705
NM_003072.5(SMARCA4):c.1345G>A (p.Glu449Lys)
NM_003072.5(SMARCA4):c.1427T>G (p.Leu476Arg) rs2145937134
NM_003072.5(SMARCA4):c.2683C>T (p.Gln895Ter) rs2146417384
NM_003073.5(SMARCB1):c.575_584dup (p.Asp196fs)
NM_003079.5(SMARCE1):c.585_586delinsA (p.Phe196fs)
NM_003079.5(SMARCE1):c.587del (p.Phe196fs)
NM_003079.5(SMARCE1):c.683_685delinsT (p.Lys228fs)
NM_003104.6(SORD):c.553G>A (p.Gly185Arg)
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_003106.4(SOX2):c.480C>G (p.Tyr160Ter) rs55683010
NM_003107.3(SOX4):c.91_92delinsAA (p.Ala31Asn)
NM_003108.4(SOX11):c.356G>C (p.Arg119Pro) rs749901648
NM_003119.4(SPG7):c.1151-1G>C
NM_003119.4(SPG7):c.2241T>G (p.Ile747Met) rs2152413170
NM_003124.5(SPR):c.28T>C (p.Cys10Arg)
NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del) rs1555354198
NM_003172.4(SURF1):c.833+1G>A rs782609482
NM_003235.5(TG):c.6185G>A (p.Trp2062Ter)
NM_003235.5(TG):c.6842G>A (p.Cys2281Tyr)
NM_003235.5(TG):c.7831_7837dup (p.Ala2613fs)
NM_003239.5(TGFB3):c.161C>T (p.Thr54Ile) rs2140254476
NM_003280.3(TNNC1):c.469A>G (p.Met157Val)
NM_003394.4(WNT10B):c.115G>T (p.Glu39Ter)
NM_003476.5(CSRP3):c.583T>C (p.Ter195Arg)
NM_003482.4(KMT2D):c.15057_15061del (p.Leu5020fs)
NM_003482.4(KMT2D):c.2263dup (p.Arg755fs) rs1555196984
NM_003482.4(KMT2D):c.6595del (p.Tyr2199fs) rs398123753
NM_003482.4(KMT2D):c.9490C>T (p.Arg3164Trp)
NM_003718.5(CDK13):c.2252G>A (p.Arg751Gln) rs1057519634
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser) rs878853160
NM_003742.4(ABCB11):c.3806C>T (p.Thr1269Ile)
NM_003742.4(ABCB11):c.99-2A>G
NM_003839.4(TNFRSF11A):c.46_63dup (p.Leu16_Leu21dup) rs879253796
NM_003966.3(SEMA5A):c.85C>T (p.Gln29Ter)
NM_003998.4(NFKB1):c.2227+1G>A rs2149222635
NM_003998.4(NFKB1):c.2353-1G>A
NM_003998.4(NFKB1):c.2818A>C (p.Thr940Pro)
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln) rs104894401
NM_004069.6(AP2S1):c.43C>T (p.Arg15Cys) rs397514498
NM_004069.6(AP2S1):c.44G>A (p.Arg15His) rs397514499
NM_004183.4(BEST1):c.1622del (p.Leu541fs) rs1942209287
NM_004183.4(BEST1):c.889C>T (p.Pro297Ser) rs1805143
NM_004187.5(KDM5C):c.1549dup (p.Asp517fs) rs2146915836
NM_004187.5(KDM5C):c.2248C>T (p.Arg750Trp) rs2146851322
NM_004187.5(KDM5C):c.2624G>A (p.Gly875Asp) rs2146840102
NM_004247.4(EFTUD2):c.1719+1G>A rs2145460853
NM_004247.4(EFTUD2):c.2033C>T (p.Thr678Met) rs781402078
NM_004247.4(EFTUD2):c.702+2T>C
NM_004329.3(BMPR1A):c.176T>C (p.Leu59Ser)
NM_004329.3(BMPR1A):c.531-1G>T rs1589288524
NM_004360.5(CDH1):c.1215del (p.Asn405fs) rs2152133449
NM_004360.5(CDH1):c.754dup (p.Val252fs) rs2152131075
NM_004364.5(CEBPA):c.209del (p.Pro70fs) rs2145263762
NM_004364.5(CEBPA):c.928_945dup (p.Leu315_Glu316insThrGlnGlnLysValLeu) rs2145258824
NM_004369.4(COL6A3):c.7321C>T (p.Arg2441Trp)
NM_004380.3(CREBBP):c.1776G>C (p.Trp592Cys)
NM_004380.3(CREBBP):c.3068del (p.Glu1023fs)
NM_004380.3(CREBBP):c.4579A>G (p.Thr1527Ala) rs1186470200
NM_004380.3(CREBBP):c.5366A>G (p.Asn1789Ser) rs1064794963
NM_004408.4(DNM1):c.127G>A (p.Gly43Ser) rs1554767313
NM_004408.4(DNM1):c.457G>A (p.Glu153Lys) rs1554772974
NM_004415.4(DSP):c.3444T>A (p.Cys1148Ter)
NM_004415.4(DSP):c.944G>C (p.Arg315Pro)
NM_004444.5(EPHB4):c.2420G>A (p.Gly807Glu) rs2116416678
NM_004456.5(EZH2):c.235G>A (p.Gly79Arg)
NM_004484.4(GPC3):c.1413+1G>C rs2124401754
NM_004523.4(KIF11):c.2308C>T (p.Gln770Ter)
NM_004562.3(PRKN):c.155del (p.Asn52fs) rs754809877
NM_004573.3(PLCB2):c.1907-5T>G
NM_004606.5(TAF1):c.1291C>T (p.Arg431Cys)
NM_004629.2(FANCG):c.1003G>A (p.Ala335Thr)
NM_004656.4(BAP1):c.1480_1481del (p.Asp494fs) rs2153226700
NM_004656.4(BAP1):c.206del (p.Thr69fs)
NM_004656.4(BAP1):c.437G>C (p.Arg146Thr) rs1705201387
NM_004656.4(BAP1):c.932-151G>A rs1705120040
NM_004667.6(HERC2):c.10711G>T (p.Ala3571Ser) rs370009597
NM_004752.4(GCM2):c.1398G>C (p.Glu466Asp) rs537546612
NM_004826.4(ECEL1):c.2069G>A (p.Trp690Ter)
NM_004855.5(PIGB):c.847-10A>G rs779296101
NM_004859.4(CLTC):c.4411_4413del (p.Phe1471del)
NM_004958.4(MTOR):c.1078C>T (p.Arg360Trp)
NM_004959.5(NR5A1):c.1090G>T (p.Asp364Tyr) rs2131277629
NM_004974.4(KCNA2):c.212C>T (p.Pro71Leu)
NM_005035.4(POLRMT):c.2498_2506del (p.Leu833_Pro835del)
NM_005120.3(MED12):c.6045G>A (p.Arg2015=)
NM_005121.3(MED13):c.2524C>T (p.Gln842Ter) rs2143471373
NM_005121.3(MED13):c.4852G>C (p.Asp1618His)
NM_005141.5(FGB):c.284G>A (p.Cys95Tyr) rs2110761933
NM_005157.6(ABL1):c.1511A>G (p.Asp504Gly)
NM_005159.5(ACTC1):c.756T>G (p.Ile252Met) rs371940910
NM_005208.5(CRYBA1):c.501-2_522del
NM_005271.5(GLUD1):c.1070C>T (p.Ser357Phe)
NM_005271.5(GLUD1):c.1379G>C (p.Arg460Thr) rs2133792215
NM_005343.4(HRAS):c.173C>T (p.Thr58Ile) rs121917758
NM_005373.3(MPL):c.757T>C (p.Trp253Arg)
NM_005427.4(TP73):c.1771C>T (p.Arg591Cys)
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005530.3(IDH3A):c.805G>A (p.Gly269Ser)
NM_005573.4(LMNB1):c.889C>T (p.Arg297Cys)
NM_005585.5(SMAD6):c.691C>T (p.Arg231Cys) rs1395007983
NM_005592.4(MUSK):c.790_791delinsTGC (p.Arg264fs)
NM_005618.4(DLL1):c.974G>A (p.Cys325Tyr)
NM_005629.4(SLC6A8):c.950dup (p.Tyr317Ter) rs1569539359
NM_005633.4(SOS1):c.1655G>C (p.Arg552Thr) rs397517154
NM_005633.4(SOS1):c.2764A>G (p.Ile922Val) rs780420674
NM_005647.4(TBL1X):c.1369A>T (p.Ile457Phe)
NM_005670.4(EPM2A):c.108_139del (p.Ala37fs) rs1204045237
NM_005765.3(ATP6AP2):c.628G>T (p.Asp210Tyr) rs2146543631
NM_005861.4(STUB1):c.427AAG[2] (p.Lys145del) rs779647632
NM_005861.4(STUB1):c.525-1G>A rs2151505158
NM_005862.3(STAG1):c.3581C>T (p.Ala1194Val)
NM_006005.3(WFS1):c.1636G>A (p.Val546Ile)
NM_006015.6(ARID1A):c.495_500del (p.Ala166_Ala167del) rs2124742134
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) rs543698823
NM_006017.3(PROM1):c.631-2A>G
NM_006087.4(TUBB4A):c.1164G>A (p.Met388Ile) rs797045074
NM_006087.4(TUBB4A):c.745G>A (p.Asp249Asn) rs483352809
NM_006147.4(IRF6):c.299C>G (p.Thr100Ser)
NM_006147.4(IRF6):c.696C>A (p.Tyr232Ter) rs2102537180
NM_006158.5(NEFL):c.262A>C (p.Thr88Pro) rs2117255599
NM_006214.4(PHYH):c.811del (p.Thr271fs) rs2131634446
NM_006218.4(PIK3CA):c.325GAA[1] (p.Glu110del) rs1724343994
NM_006260.5(DNAJC3):c.1305del (p.Glu436fs)
NM_006265.3(RAD21):c.548T>G (p.Leu183Ter)
NM_006268.5(DPF2):c.508G>C (p.Glu170Gln)
NM_006269.2(RP1):c.2029C>T (p.Arg677Ter) rs104894082
NM_006269.2(RP1):c.2035C>T (p.Gln679Ter) rs104894083
NM_006269.2(RP1):c.32T>A (p.Ile11Asn)
NM_006343.3(MERTK):c.634A>C (p.Thr212Pro) rs2104704629
NM_006408.4(AGR2):c.256+2T>C
NM_006445.4(PRPF8):c.6902C>T (p.Pro2301Leu) rs2151109012
NM_006563.5(KLF1):c.649C>T (p.Gln217Ter) rs2145927881
NM_006618.5(KDM5B):c.293G>C (p.Arg98Pro) rs748231291
NM_006662.3(SRCAP):c.3738dup (p.Gln1247fs)
NM_006662.3(SRCAP):c.7215_7216del (p.Glu2405fs)
NM_006734.4(HIVEP2):c.4726T>C (p.Ser1576Pro) rs2114644719
NM_006766.5(KAT6A):c.1133C>G (p.Ser378Ter) rs2150886525
NM_006766.5(KAT6A):c.658C>T (p.Arg220Ter) rs1395351821
NM_006767.4(LZTR1):c.1245_1246del (p.Glu415fs)
NM_006767.4(LZTR1):c.1353+1G>T
NM_006767.4(LZTR1):c.1397G>T (p.Arg466Leu) rs587777180
NM_006767.4(LZTR1):c.1700G>A (p.Arg567His) rs372417941
NM_006767.4(LZTR1):c.400G>C (p.Gly134Arg) rs1440693988
NM_006767.4(LZTR1):c.401-1G>A
NM_006796.3(AFG3L2):c.1714G>A (p.Ala572Thr)
NM_006828.4(ASCC3):c.2554C>T (p.Arg852Ter)
NM_006828.4(ASCC3):c.4682T>C (p.Phe1561Ser)
NM_006846.4(SPINK5):c.2452G>A (p.Ala818Thr)
NM_006846.4(SPINK5):c.2728A>G (p.Asn910Asp)
NM_006852.6(TLK2):c.907C>T (p.Arg303Ter) rs138247472
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu) rs730881014
NM_006915.3(RP2):c.358C>T (p.Arg120Ter) rs104894927
NM_006922.4(SCN3A):c.595G>A (p.Val199Met)
NM_006947.4(SRP72):c.-10C>T
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser) rs61736587
NM_007118.4(TRIO):c.4382C>G (p.Pro1461Arg) rs1747667518
NM_007118.4(TRIO):c.6181T>G (p.Tyr2061Asp)
NM_007194.4(CHEK2):c.1178C>G (p.Pro393Arg) rs730881690
NM_007194.4(CHEK2):c.1238T>G (p.Leu413Ter) rs1248967885
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) rs587780174
NM_007194.4(CHEK2):c.1567del (p.Arg523fs) rs587782684
NM_007194.4(CHEK2):c.1596del (p.Thr533fs) rs587781519
NM_007194.4(CHEK2):c.655del (p.Glu219fs) rs786202497
NM_007194.4(CHEK2):c.684-2A>G rs2053419665
NM_007262.5(PARK7):c.105dup (p.Ala36fs) rs781600849
NM_007294.4(BRCA1):c.*136C>G
NM_007294.4(BRCA1):c.115T>C (p.Cys39Arg) rs80357164
NM_007294.4(BRCA1):c.1504_1508del (p.Leu502fs) rs80357888
NM_007294.4(BRCA1):c.1621C>T (p.Gln541Ter) rs80356904
NM_007294.4(BRCA1):c.1837A>G (p.Arg613Gly) rs863224753
NM_007294.4(BRCA1):c.2071del (p.Arg691fs) rs80357688
NM_007294.4(BRCA1):c.2110_2111del (p.Asn704fs) rs80357814
NM_007294.4(BRCA1):c.2133del (p.Lys711fs)
NM_007294.4(BRCA1):c.2214dup (p.Lys739Ter) rs80357574
NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs) rs80357664
NM_007294.4(BRCA1):c.3672del (p.Cys1225fs) rs398122677
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs) rs80357868
NM_007294.4(BRCA1):c.3813dup (p.Asn1272Ter) rs397509108
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_007294.4(BRCA1):c.4185+1G>T rs80358076
NM_007294.4(BRCA1):c.4357+6T>C rs80358143
NM_007294.4(BRCA1):c.4484+1del rs397509181
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.5324T>A (p.Met1775Lys) rs41293463
NM_007294.4(BRCA1):c.5434C>G (p.Pro1812Ala) rs1800751
NM_007294.4(BRCA1):c.547+1G>T rs80358030
NM_007294.4(BRCA1):c.547+2T>A rs80358047
NM_007325.5(GRIA3):c.949A>G (p.Ile317Val) rs2147381088
NM_007327.4(GRIN1):c.1283del (p.Gly428fs)
NM_007327.4(GRIN1):c.2417C>T (p.Ala806Val) rs1554770589
NM_012079.6(DGAT1):c.629_631del (p.Ser210del) rs782577883
NM_012154.5(AGO2):c.1619T>C (p.Leu540Pro)
NM_012193.4(FZD4):c.1567G>C (p.Gly523Arg) rs199577384
NM_012309.5(SHANK2):c.4930G>T (p.Glu1644Ter) rs2058786429
NM_012330.4(KAT6B):c.1993+1G>A rs2133733164
NM_012338.4(TSPAN12):c.212_218dup (p.Phe73fs) rs1554403626
NM_013254.4(TBK1):c.1978C>T (p.Gln660Ter) rs2136088954
NM_013275.6(ANKRD11):c.2329_2332del (p.Glu777fs) rs2034485034
NM_013275.6(ANKRD11):c.4370_4371del (p.Lys1457fs) rs2151750249
NM_013275.6(ANKRD11):c.7355G>C (p.Arg2452Pro) rs781584370
NM_013275.6(ANKRD11):c.7684G>A (p.Glu2562Lys) rs2151701503
NM_013275.6(ANKRD11):c.7753C>T (p.Arg2585Cys) rs1567537304
NM_013436.5(NCKAP1):c.1291G>C (p.Val431Leu)
NM_014112.5(TRPS1):c.3659del (p.Arg1220fs)
NM_014112.5(TRPS1):c.769C>T (p.Arg257Ter) rs2130531352
NM_014249.4(NR2E3):c.349G>A (p.Ala117Thr) rs1259983553
NM_014270.5(SLC7A9):c.120G>A (p.Val40=) rs140179068
NM_014423.4(AFF4):c.778A>G (p.Met260Val) rs2150098305
NM_014845.6(FIG4):c.397A>G (p.Ile133Val) rs777011122
NM_014874.4(MFN2):c.1090C>T (p.Arg364Trp) rs119103265
NM_014915.3(ANKRD26):c.-118C>T rs1589393759
NM_014915.3(ANKRD26):c.-134G>A rs863223318
NM_014921.5(ADGRL1):c.671G>A (p.Arg224His)
NM_014946.4(SPAST):c.1495C>T (p.Arg499Cys) rs121908511
NM_014946.4(SPAST):c.1616+1G>A rs1553319327
NM_014946.4(SPAST):c.1664A>C (p.Asp555Ala)
NM_015021.3(ZNF292):c.2311C>T (p.Arg771Ter)
NM_015040.4(PIKFYVE):c.4511G>A (p.Trp1504Ter) rs2125682979
NM_015046.7(SETX):c.1011-2A>G
NM_015065.3(EXPH5):c.4917C>A (p.Cys1639Ter) rs763170220
NM_015175.3(NBEAL2):c.5125G>T (p.Glu1709Ter)
NM_015335.5(MED13L):c.4789A>G (p.Ser1597Gly) rs2137274550
NM_015346.4(ZFYVE26):c.4846C>T (p.Gln1616Ter) rs2140214976
NM_015378.4(VPS13D):c.10562A>G (p.Asn3521Ser) rs1557737087
NM_015378.4(VPS13D):c.5725+2dup
NM_015488.5(PNKD):c.318A>T (p.Lys106Asn) rs1421249273
NM_015512.5(DNAH1):c.10887del (p.Cys3630fs)
NM_015922.3(NSDHL):c.1098dup (p.Arg367fs) rs121909834
NM_016006.6(ABHD5):c.1006G>T (p.Glu336Ter) rs762662276
NM_016042.4(EXOSC3):c.202G>T (p.Gly68Cys) rs745785017
NM_016042.4(EXOSC3):c.251G>T (p.Gly84Val) rs2118981494
NM_016121.5(KCTD3):c.997A>T (p.Asn333Tyr)
NM_016169.4(SUFU):c.37_53dup (p.Gly19fs) rs2135597189
NM_016203.4(PRKAG2):c.496C>T (p.Pro166Ser)
NM_016222.4(DDX41):c.1621+5G>T rs2127435833
NM_016628.5(WAC):c.1380_1383del (p.Asn461fs)
NM_017534.6(MYH2):c.2176C>T (p.Gln726Ter)
NM_017617.5(NOTCH1):c.2372A>G (p.Asn791Ser) rs2133358146
NM_017654.4(SAMD9):c.2414A>G (p.Asp805Gly)
NM_017780.4(CHD7):c.1989dup (p.Glu664fs) rs2150669971
NM_017780.4(CHD7):c.2990T>C (p.Leu997Ser) rs2150750132
NM_017780.4(CHD7):c.4515dup (p.Gly1506fs)
NM_017780.4(CHD7):c.487C>T (p.Gln163Ter)
NM_017780.4(CHD7):c.6045del (p.Phe2015fs)
NM_017802.4(DNAAF5):c.889G>A (p.Glu297Lys) rs753466171
NM_017950.4(CCDC40):c.1345C>T (p.Arg449Ter) rs387907093
NM_017950.4(CCDC40):c.2257dup (p.Glu753fs) rs2143748349
NM_017950.4(CCDC40):c.3092_3093dup (p.Glu1032Ter) rs2143781646
NM_017986.4(SLC52A1):c.1142_1153del rs747792931
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018082.6(POLR3B):c.664C>T (p.Arg222Ter)
NM_018418.5(SPATA7):c.1171C>T (p.Arg391Ter) rs374268850
NM_018896.5(CACNA1G):c.3229C>T (p.Pro1077Ser)
NM_018896.5(CACNA1G):c.5144G>A (p.Arg1715His) rs755221106
NM_019032.6(ADAMTSL4):c.2270dup (p.Gly758fs) rs747160538
NM_019032.6(ADAMTSL4):c.2493del (p.Ser832fs) rs763535661
NM_019032.6(ADAMTSL4):c.767_786del (p.Gln256fs) rs199473693
NM_019066.5(MAGEL2):c.626T>C (p.Met209Thr)
NM_019597.5(HNRNPH2):c.617G>A (p.Arg206Gln) rs886039764
NM_019616.4(F7):c.748G>A (p.Asp250Asn)
NM_020061.6(OPN1LW):c.607T>C (p.Cys203Arg) rs121434621
NM_020166.5(MCCC1):c.223A>G (p.Thr75Ala)
NM_020166.5(MCCC1):c.684dup (p.Glu229fs)
NM_020297.4(ABCC9):c.3640G>A (p.Ala1214Thr) rs1943555710
NM_020297.4(ABCC9):c.4375C>T (p.Leu1459Phe)
NM_020717.5(SHROOM4):c.384G>T (p.Trp128Cys)
NM_020738.4(KIDINS220):c.4169A>G (p.Tyr1390Cys)
NM_020975.6(RET):c.143C>T (p.Thr48Met) rs1427186016
NM_020975.6(RET):c.1921G>C (p.Ala641Pro) rs377767411
NM_020975.6(RET):c.2370G>C (p.Leu790Phe) rs75030001
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_020988.3(GNAO1):c.724-8G>A rs1085307876
NM_021008.4(DEAF1):c.737G>C (p.Arg246Thr) rs1554944271
NM_021095.4(SLC5A6):c.422_423del (p.Val141fs) rs749980819
NM_021096.4(CACNA1I):c.854C>T (p.Pro285Leu)
NM_021615.5(CHST6):c.847_848delinsTG (p.Glu283Ter) rs2151665554
NM_021625.5(TRPV4):c.947G>A (p.Arg316His) rs387906905
NM_021738.3(SVIL):c.3386A>G (p.Glu1129Gly) rs2132529196
NM_021870.2(FGG):c.901C>T (p.Arg301Cys) rs121913087
NM_021870.3(FGG):c.1030G>C (p.Asp344His)
NM_021871.4(FGA):c.713del (p.Lys238fs)
NM_021954.4(GJA3):c.56C>T (p.Thr19Met) rs1114167307
NM_022114.4(PRDM16):c.1185_1186del (p.Ile395fs)
NM_022132.5(MCCC2):c.1073-27T>C
NM_022437.3(ABCG8):c.562-1G>A rs1317214046
NM_022455.5(NSD1):c.4459A>G (p.Lys1487Glu)
NM_022455.5(NSD1):c.6208T>C (p.Cys2070Arg) rs1759551453
NM_022893.4(BCL11A):c.1A>G (p.Met1Val) rs1573109761
NM_023110.3(FGFR1):c.113dup (p.Glu39fs)
NM_024426.6(WT1):c.1303C>T (p.Arg435Ter) rs121907906
NM_024426.6(WT1):c.410del (p.Pro137fs)
NM_024426.6(WT1):c.769C>T (p.Gln257Ter)
NM_024529.5(CDC73):c.69C>G (p.Asp23Glu) rs1675465120
NM_024577.4(SH3TC2):c.3425_3435del (p.Tyr1142fs) rs1222150652
NM_024675.4(PALB2):c.1451T>A (p.Leu484Ter) rs786203714
NM_024675.4(PALB2):c.1947dup (p.Glu650fs) rs515726075
NM_024675.4(PALB2):c.2325dup (p.Phe776fs) rs876659997
NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter) rs886039480
NM_024675.4(PALB2):c.2514+1G>C rs886039729
NM_024675.4(PALB2):c.2724A>T (p.Lys908Asn) rs1555459932
NM_024675.4(PALB2):c.2727_2728del (p.Thr911fs) rs730881869
NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter) rs118203999
NM_024675.4(PALB2):c.2968G>T (p.Glu990Ter) rs876659036
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) rs180177133
NM_024675.4(PALB2):c.3296del (p.Thr1099fs) rs1966508003
NM_024675.4(PALB2):c.3351-7C>T rs2142255767
NM_024675.4(PALB2):c.3386C>T (p.Ala1129Val) rs1567205179
NM_024675.4(PALB2):c.3418del (p.Trp1140fs) rs2142254289
NM_024675.4(PALB2):c.487_488del (p.Val163fs) rs745533713
NM_024675.4(PALB2):c.693A>T (p.Lys231Asn) rs876658847
NM_024675.4(PALB2):c.757_758del (p.Leu253fs) rs180177092
NM_024675.4(PALB2):c.998C>A (p.Thr333Asn) rs1567221840
NM_024721.5(ZFHX4):c.9048C>A (p.Tyr3016Ter)
NM_024747.6(HPS6):c.1267C>T (p.Pro423Ser)
NM_024747.6(HPS6):c.1274A>T (p.Glu425Val)
NM_024757.5(EHMT1):c.2426C>T (p.Pro809Leu) rs587780332
NM_025114.4(CEP290):c.164_167del (p.Thr55fs) rs758550675
NM_030662.4(MAP2K2):c.169T>C (p.Phe57Leu) rs121434498
NM_030773.4(TUBB1):c.624T>A (p.Tyr208Ter) rs2146377060
NM_030787.4(CFHR5):c.1321C>T (p.Arg441Cys)
NM_031407.7(HUWE1):c.1445C>T (p.Pro482Leu) rs2066586691
NM_031844.3(HNRNPU):c.520C>T (p.Gln174Ter) rs886041983
NM_031921.6(ATAD3B):c.1639G>C (p.Gly547Arg)
NM_032043.3(BRIP1):c.1072dup (p.Leu358fs) rs2145334953
NM_032043.3(BRIP1):c.2400C>G (p.Tyr800Ter) rs574552037
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs) rs771028677
NM_032043.3(BRIP1):c.359G>A (p.Gly120Asp) rs730881637
NM_032119.4(ADGRV1):c.10974+1G>A rs1754560628
NM_032119.4(ADGRV1):c.18082C>T (p.Leu6028Phe)
NM_032119.4(ADGRV1):c.3901G>T (p.Asp1301Tyr) rs2149466957
NM_032122.5(DTNBP1):c.872T>G (p.Leu291Ter) rs2127784434
NM_032208.3(ANTXR1):c.1434+1G>A
NM_032217.5(ANKRD17):c.1887del (p.Gly630fs)
NM_032271.3(TRAF7):c.1570C>T (p.Arg524Trp) rs2093132159
NM_032271.3(TRAF7):c.1783C>G (p.Leu595Val) rs2141298490
NM_032492.4(JAGN1):c.*9T>C rs11554811
NM_032620.4(GTPBP3):c.521G>C (p.Arg174Pro) rs766510741
NM_032638.5(GATA2):c.1322_1325dup (p.His442fs) rs2107667819
NM_032856.5(WDR73):c.6_9del (p.Asp2fs)
NM_033022.4(RPS24):c.3G>A (p.Met1Ile) rs2131972918
NM_033305.3(VPS13A):c.1A>T (p.Met1Leu) rs2131029946
NM_033380.3(COL4A5):c.1332_1335dup (p.Pro446fs) rs2147797210
NM_033380.3(COL4A5):c.2917+2T>A
NM_033380.3(COL4A5):c.3016+1G>A
NM_033380.3(COL4A5):c.834+1G>T
NM_052867.4(NALCN):c.4104G>T (p.Arg1368Ser)
NM_057175.5(NAA15):c.309C>G (p.Tyr103Ter)
NM_057175.5(NAA15):c.779del (p.Tyr260fs) rs2110930242
NM_058004.4(PI4KA):c.3646T>C (p.Trp1216Arg)
NM_058004.4(PI4KA):c.4489G>A (p.Ala1497Thr)
NM_058174.3(COL6A2):c.2654C>G (p.Thr885Ser)
NM_058216.3(RAD51C):c.222A>T (p.Arg74Ser)
NM_130837.3(OPA1):c.1111A>G (p.Arg371Gly)
NM_130837.3(OPA1):c.1348G>A (p.Val450Met)
NM_130839.5(UBE3A):c.1576C>T (p.Arg526Cys) rs1064793307
NM_133433.4(NIPBL):c.1530C>A (p.Tyr510Ter)
NM_133433.4(NIPBL):c.3213G>A (p.Met1071Ile) rs2149662601
NM_133433.4(NIPBL):c.5467A>G (p.Asn1823Asp) rs750864821
NM_133433.4(NIPBL):c.6893G>A (p.Arg2298His) rs587784024
NM_134261.3(RORA):c.409G>A (p.Gly137Arg)
NM_138383.3(MTSS2):c.2011C>T (p.Arg671Trp) rs753688777
NM_138477.4(CDAN1):c.557C>G (p.Pro186Arg)
NM_138694.4(PKHD1):c.10180T>G (p.Cys3394Gly)
NM_138694.4(PKHD1):c.3170G>A (p.Cys1057Tyr)
NM_138694.4(PKHD1):c.6818C>T (p.Thr2273Met)
NM_138711.6(PPARG):c.78C>G (p.His26Gln)
NM_139027.6(ADAMTS13):c.2293C>T (p.Arg765Trp)
NM_139285.4(GAS2L2):c.1340C>G (p.Thr447Ser)
NM_144687.4(NLRP12):c.2056_2057dup (p.Leu687fs)
NM_144997.7(FLCN):c.1021del (p.Arg341fs) rs1060502368
NM_144997.7(FLCN):c.1285del (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1426dup (p.Asp476fs) rs1131690835
NM_144997.7(FLCN):c.871+170_871+178del rs750424403
NM_144997.7(FLCN):c.946_947del (p.Ser316fs) rs1597591875
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys) rs587777771
NM_152419.3(HGSNAT):c.1708del (p.Thr570fs) rs1804782152
NM_152515.5(CKAP2L):c.501del (p.Asn167fs) rs2104884982
NM_152564.5(VPS13B):c.3348_3349del (p.Cys1117fs) rs180177327
NM_153676.4(USH1C):c.238dup (p.Arg80fs) rs397515359
NM_153676.4(USH1C):c.387+1G>A
NM_153766.3(KCNJ1):c.118C>T (p.Gln40Ter)
NM_153766.3(KCNJ1):c.241T>C (p.Tyr81His)
NM_170707.4(LMNA):c.324del (p.Val109fs)
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln) rs267607571
NM_172351.3(CD46):c.191G>T (p.Cys64Phe) rs1655633353
NM_173495.3(PTCHD1):c.145GAG[1] (p.Glu50del)
NM_173500.4(TTBK2):c.2476A>G (p.Thr826Ala)
NM_174878.3(CLRN1):c.502dup (p.Ile168fs) rs746523071
NM_175914.5(HNF4A):c.589C>A (p.Leu197Met) rs1775879070
NM_175914.5(HNF4A):c.607G>A (p.Gly203Ser) rs2146437968
NM_175914.5(HNF4A):c.827-1G>A rs2146467548
NM_177398.4(LMX1A):c.317T>G (p.Phe106Cys)
NM_177402.5(SYT2):c.923C>T (p.Pro308Leu) rs587777782
NM_177438.3(DICER1):c.1966C>T (p.Arg656Ter) rs754081635
NM_177438.3(DICER1):c.5326C>T (p.Gln1776Ter) rs2139811410
NM_177438.3(DICER1):c.712del (p.Thr238fs) rs2140259982
NM_177559.3(CSNK2A1):c.468T>A (p.Asp156Glu) rs1064795110
NM_177924.5(ASAH1):c.94A>T (p.Arg32Ter) rs1588999386
NM_178014.4(TUBB):c.1201G>A (p.Glu401Lys) rs587777357
NM_182758.4(WDR72):c.88C>T (p.Arg30Ter) rs770804941
NM_182931.3(KMT2E):c.658G>A (p.Val220Ile)
NM_182961.4(SYNE1):c.16849C>T (p.Arg5617Ter) rs758379604
NM_182961.4(SYNE1):c.19450C>T (p.Gln6484Ter) rs2090447154
NM_182961.4(SYNE1):c.2624del (p.Gly875fs)
NM_183357.3(ADCY5):c.593_604dup (p.Ala201_Val202insGlyProGlyAla) rs2107658667
NM_194454.3(KRIT1):c.1201_1204del (p.Gln401fs) rs1057517753
NM_194454.3(KRIT1):c.1255-1_1256del rs1554514380
NM_194454.3(KRIT1):c.268C>T (p.Arg90Ter) rs1563313372
NM_197968.4(ZMYM2):c.2833dup (p.Ala945fs) rs2140777563
NM_197968.4(ZMYM2):c.978del (p.Val327fs)
NM_198252.3(GSN):c.1324T>C (p.Trp442Arg) rs2062427908
NM_198253.3(TERT):c.2146G>A (p.Ala716Thr) rs387907249
NM_198253.3(TERT):c.2468+103G>A
NM_198253.3(TERT):c.2912G>A (p.Arg971His) rs1748153358
NM_198334.3(GANAB):c.1429T>C (p.Tyr477His)
NM_198503.5(KCNT2):c.827del (p.Gln276fs)
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr) rs796052505
NM_201589.4(MAFA):c.121T>G (p.Phe41Val)
NM_201589.4(MAFA):c.767A>C (p.Lys256Thr)
NM_203447.4(DOCK8):c.4184dup (p.Asn1395fs)
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs) rs1366496013
NM_206933.4(USH2A):c.11537C>T (p.Ala3846Val) rs1553257673
NM_206933.4(USH2A):c.12234_12235del (p.Asn4079fs) rs398124618
NM_206933.4(USH2A):c.126C>G (p.Asn42Lys) rs774473277
NM_206933.4(USH2A):c.12954C>A (p.Tyr4318Ter) rs762159022
NM_206933.4(USH2A):c.2168-2A>G rs993185407
NM_206933.4(USH2A):c.8480T>A (p.Leu2827Ter) rs2102451648
NM_207034.3(EDN3):c.377C>G (p.Pro126Arg)
NM_207122.2(EXT2):c.1201C>T (p.Gln401Ter)
NM_207352.4(CYP4V2):c.1219G>T (p.Glu407Ter) rs2126600867
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521
der(6)t(6;10)(p25.2;q26.3)

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