ClinVar Miner

List of variants reported as pathogenic by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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ClinVar version:
Total variants: 1798
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HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
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_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) rs1799807 0.01259
NM_000506.5(F2):c.*97G>A rs1799963 0.00979
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445 0.00530
NM_000110.4(DPYD):c.1905+1G>A rs3918290 0.00474
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) rs7755898 0.00339
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_000110.4(DPYD):c.2846A>T (p.Asp949Val) rs67376798 0.00334
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682 0.00304
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_201631.4(TGM5):c.337G>T (p.Gly113Cys) rs112292549 0.00252
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg) rs104893836 0.00234
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_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr) rs114925667 0.00169
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_138413.4(HOGA1):c.700+5G>T rs185803104 0.00156
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991 0.00146
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_005726.6(TSFM):c.856C>T (p.Gln286Ter) rs201754030 0.00136
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln) rs104893837 0.00132
NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr) rs137868995 0.00125
NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter) rs72653706 0.00122
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475 0.00117
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala) rs113994167 0.00116
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00103
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636 0.00100
NM_024063.3(AFG2B):c.527G>T (p.Gly176Val) rs145451123 0.00098
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) rs137854523 0.00098
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858 0.00092
NM_000158.4(GBE1):c.691+2T>C rs192044702 0.00078
NM_001099287.2(NIPAL4):c.341C>A (p.Ala114Asp) rs199422217 0.00077
NM_000016.6(ACADM):c.199T>C (p.Tyr67His) rs121434280 0.00073
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter) rs150259543 0.00073
NM_000402.4(G6PD):c.934G>C (p.Asp312His) rs137852318 0.00072
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter) rs763672163 0.00071
NM_176869.3(PPA2):c.514G>A (p.Glu172Lys) rs146013446 0.00070
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter) rs201587138 0.00069
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_013339.4(ALG6):c.257+5G>A rs199682486 0.00065
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_001492.6(GDF1):c.681C>A (p.Cys227Ter) rs121434422 0.00058
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942 0.00058
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260 0.00057
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp) rs143218168 0.00054
NM_000391.4(TPP1):c.509-1G>C rs56144125 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_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747 0.00049
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) rs1805137 0.00048
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641 0.00048
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_145199.3(LIPT1):c.875C>G (p.Ser292Ter) rs137891647 0.00047
NM_000487.6(ARSA):c.465+1G>A rs80338815 0.00046
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu) rs28942073 0.00046
NM_001146079.2(CLDN14):c.488C>T (p.Ala163Val) rs143797113 0.00046
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145 0.00044
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996 0.00042
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195 0.00041
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp) rs150429680 0.00041
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser) rs55886062 0.00040
NM_000204.5(CFI):c.355G>A (p.Gly119Arg) rs141853578 0.00040
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val) rs111033303 0.00039
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter) rs137852700 0.00038
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) rs28940893 0.00037
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys) rs141386891 0.00036
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu) rs28939378 0.00036
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848 0.00035
NM_005373.3(MPL):c.305G>C (p.Arg102Pro) rs28928907 0.00035
NM_017739.4(POMGNT1):c.1539+1G>A rs138642840 0.00034
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00032
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys) rs148812376 0.00032
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser) rs61761869 0.00031
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096 0.00031
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter) rs34295337 0.00030
NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter) rs121908576 0.00030
NM_000441.2(SLC26A4):c.1001+1G>A rs80338849 0.00029
NM_014239.4(EIF2B2):c.599G>T (p.Gly200Val) rs113994012 0.00029
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala) rs28940279 0.00028
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000359.3(TGM1):c.877-2A>G rs142634031 0.00027
NM_000441.2(SLC26A4):c.-3-2A>G rs397516411 0.00027
NM_004562.3(PRKN):c.101_102del (p.Gln34fs) rs55777503 0.00027
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser) rs143712760 0.00026
NM_153240.5(NPHP3):c.2694-2_2694-1del rs751527253 0.00026
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys) rs5030860 0.00025
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn) rs199589947 0.00025
NM_016146.6(TRAPPC4):c.454+3A>G rs375776811 0.00025
NM_020745.4(AARS2):c.1774C>T (p.Arg592Trp) rs138119149 0.00025
NM_001126108.2(SLC12A3):c.2856+1G>T rs199974259 0.00024
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys) rs121918221 0.00024
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu) rs121918167 0.00023
NM_001395413.1(POR):c.850G>C (p.Ala284Pro) rs121912974 0.00023
NM_000375.3(UROS):c.217T>C (p.Cys73Arg) rs121908012 0.00022
NM_152743.4(BRAT1):c.294dup (p.Leu99fs) rs776913277 0.00022
NM_176869.3(PPA2):c.380G>T (p.Arg127Leu) rs139076647 0.00022
NM_000404.4(GLB1):c.75+2dup rs587776525 0.00021
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) rs28939086 0.00021
NM_000520.6(HEXA):c.1073+1G>A rs76173977 0.00021
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00021
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) rs1064651 0.00020
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679 0.00020
NM_000541.5(SAG):c.577C>T (p.Arg193Ter) rs201153410 0.00020
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401 0.00020
NM_000152.5(GAA):c.525del (p.Glu176fs) rs386834235 0.00019
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00019
NM_000372.5(TYR):c.823G>T (p.Val275Phe) rs104894314 0.00019
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096 0.00019
NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter) rs200503833 0.00019
NM_058179.4(PSAT1):c.296C>T (p.Ala99Val) rs587777778 0.00019
NM_145207.3(AFG2A):c.1714+1G>A rs149688478 0.00019
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) rs61751408 0.00018
NM_000441.2(SLC26A4):c.919-2A>G rs111033313 0.00018
NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu) rs28936700 0.00017
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002 0.00017
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp) rs121918222 0.00017
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg) rs200287952 0.00016
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964 0.00016
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly) rs111033244 0.00016
NM_001206744.2(TPO):c.1978C>G (p.Gln660Glu) rs121908088 0.00016
NM_001378778.1(MPDZ):c.4469del (p.Gln1490fs) rs781251438 0.00016
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter) rs145226920 0.00016
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe) rs202020308 0.00016
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln) rs111033270 0.00016
NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser) rs121434250 0.00015
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) rs121907954 0.00015
NM_000360.4(TH):c.605G>A (p.Arg202His) rs80338892 0.00014
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys) rs398123546 0.00014
NM_019109.5(ALG1):c.1187+3A>G rs369160589 0.00013
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) rs72554664 0.00012
NM_003359.4(UGDH):c.193C>T (p.Arg65Ter) rs200059198 0.00012
NM_144991.3(TSPEAR):c.1528C>T (p.Arg510Ter) rs201663789 0.00012
NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys) rs377025174 0.00011
NM_001126108.2(SLC12A3):c.2554C>T (p.Arg852Cys) rs373899077 0.00011
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) rs104894397 0.00011
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu) rs143344549 0.00011
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys) rs201118034 0.00010
NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs) rs746838237 0.00010
NM_152564.5(VPS13B):c.6657+1G>A rs180177366 0.00010
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro) rs79761867 0.00010
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) rs151242354 0.00009
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn) rs369414658 0.00009
NM_000170.3(GLDC):c.2607C>A (p.Pro869=) rs386833565 0.00009
NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter) rs118203957 0.00009
NM_001083961.2(WDR62):c.1043+3A>G rs587784541 0.00009
NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg) rs375032130 0.00009
NM_004646.4(NPHS1):c.2335-1G>A rs150038620 0.00009
NM_017739.4(POMGNT1):c.1895+1G>T rs386834024 0.00009
NM_021957.4(GYS2):c.736C>T (p.Arg246Ter) rs121918419 0.00009
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408 0.00009
NM_181426.2(CCDC39):c.610-2A>G rs756235547 0.00009
NM_000017.4(ACADS):c.1147C>T (p.Arg383Cys) rs28940872 0.00008
NM_000126.4(ETFA):c.797C>T (p.Thr266Met) rs119458970 0.00008
NM_000402.4(G6PD):c.185A>G (p.His62Arg) rs137852340 0.00008
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp) rs111033307 0.00008
NM_000528.4(MAN2B1):c.1830+1G>C rs80338677 0.00008
NM_001329943.3(KIAA0586):c.1254-1G>C rs757350052 0.00008
NM_001363118.2(SLC52A2):c.1016T>C (p.Leu339Pro) rs148234606 0.00008
NM_002180.3(IGHMBP2):c.1082T>C (p.Leu361Pro) rs201060167 0.00008
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690 0.00008
NM_001002294.3(FMO3):c.622G>T (p.Glu208Ter) rs559643079 0.00007
NM_001042631.3(SDHAF1):c.156C>A (p.Tyr52Ter) rs768768823 0.00007
NM_001080.3(ALDH5A1):c.612G>A (p.Trp204Ter) rs118203982 0.00007
NM_001083116.3(PRF1):c.386G>C (p.Trp129Ser) rs768849283 0.00007
NM_001384732.1(CPLANE1):c.493del (p.Ile165fs) rs606231259 0.00007
NM_001414.4(EIF2B1):c.824A>G (p.Tyr275Cys) rs758746181 0.00007
NM_001983.4(ERCC1):c.466C>T (p.Arg156Trp) rs757369063 0.00007
NM_001994.3(F13B):c.1152_1155dup (p.Pro386fs) rs748757906 0.00007
NM_004453.4(ETFDH):c.51dup (p.Ala18fs) rs796051964 0.00007
NM_014239.4(EIF2B2):c.638A>G (p.Glu213Gly) rs104894425 0.00007
NM_138694.4(PKHD1):c.8870T>C (p.Ile2957Thr) rs760222236 0.00007
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) rs80356771 0.00006
NM_000157.4(GBA1):c.1604G>A (p.Arg535His) rs75822236 0.00006
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg) rs80358254 0.00006
NM_000350.3(ABCA4):c.1531C>T (p.Arg511Cys) rs752786160 0.00006
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305 0.00006
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser) rs111033308 0.00006
NM_000492.4(CFTR):c.2657+5G>A rs80224560 0.00006
NM_000517.4(HBA2):c.427T>C (p.Ter143Gln) rs41464951 0.00006
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter) rs199469707 0.00006
NM_001358530.2(MOCS1):c.418+1G>A rs141982812 0.00006
NM_001363118.2(SLC52A2):c.916G>A (p.Gly306Arg) rs398124641 0.00006
NM_001384732.1(CPLANE1):c.7477C>T (p.Arg2493Ter) rs139675596 0.00006
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln) rs121913502 0.00006
NM_005055.5(RAPSN):c.133G>A (p.Val45Met) rs121909254 0.00006
NM_020320.5(RARS2):c.35A>G (p.Gln12Arg) rs147391618 0.00006
NM_054012.4(ASS1):c.470G>A (p.Arg157His) rs121908637 0.00006
NM_152906.7(TANGO2):c.94C>T (p.Arg32Ter) rs199801224 0.00006
NM_206933.4(USH2A):c.1036A>C (p.Asn346His) rs369522997 0.00006
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp) rs201527662 0.00006
NM_000166.6(GJB1):c.319C>T (p.Arg107Trp) rs863224973 0.00005
NM_000531.6(OTC):c.118C>T (p.Arg40Cys) rs72554307 0.00005
NM_001130987.2(DYSF):c.6096dup (p.Glu2033fs) rs398123799 0.00005
NM_005787.6(ALG3):c.512G>A (p.Arg171Gln) rs119103236 0.00005
NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter) rs149850248 0.00005
NM_021957.4(GYS2):c.547C>T (p.Gln183Ter) rs201157731 0.00005
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_054012.4(ASS1):c.787G>A (p.Val263Met) rs192838388 0.00005
NM_152268.4(PARS2):c.283G>A (p.Val95Ile) rs147227819 0.00005
NM_000071.3(CBS):c.341C>T (p.Ala114Val) rs121964964 0.00004
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter) rs769976586 0.00004
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer) rs781088002 0.00004
NM_000157.4(GBA1):c.887G>A (p.Arg296Gln) rs78973108 0.00004
NM_000181.4(GUSB):c.1617C>T (p.Ser539=) rs377519272 0.00004
NM_000277.3(PAH):c.1223G>A (p.Arg408Gln) rs5030859 0.00004
NM_000303.3(PMM2):c.691G>A (p.Val231Met) rs80338707 0.00004
NM_000350.3(ABCA4):c.4539+2028C>T rs869320785 0.00004
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904 0.00004
NM_000391.4(TPP1):c.225A>G (p.Gln75=) rs368709098 0.00004
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339 0.00004
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362 0.00004
NM_001126108.2(SLC12A3):c.179C>T (p.Thr60Met) rs371443644 0.00004
NM_001126108.2(SLC12A3):c.248G>A (p.Arg83Gln) rs768527231 0.00004
NM_001126108.2(SLC12A3):c.473G>A (p.Arg158Gln) rs1274973729 0.00004
NM_001126108.2(SLC12A3):c.938C>T (p.Ala313Val) rs140551719 0.00004
NM_001278716.2(FBXL4):c.1303C>T (p.Arg435Ter) rs201889294 0.00004
NM_001282225.2(ADA2):c.752C>T (p.Pro251Leu) rs148936893 0.00004
NM_001384732.1(CPLANE1):c.8872C>T (p.Arg2958Ter) rs141507441 0.00004
NM_002016.2(FLG):c.10969C>T (p.Arg3657Ter) rs749083759 0.00004
NM_003560.4(PLA2G6):c.2221C>T (p.Arg741Trp) rs530348521 0.00004
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys) rs767178508 0.00004
NM_005726.6(TSFM):c.934C>T (p.Arg312Trp) rs121909485 0.00004
NM_005866.4(SIGMAR1):c.194T>A (p.Leu65Gln) rs140376902 0.00004
NM_005957.5(MTHFR):c.155G>A (p.Arg52Gln) rs754980119 0.00004
NM_006371.5(CRTAP):c.634C>T (p.Arg212Ter) rs137853944 0.00004
NM_015662.3(IFT172):c.5179T>C (p.Cys1727Arg) rs149614625 0.00004
NM_017547.4(FOXRED1):c.1261G>A (p.Val421Met) rs199542988 0.00004
NM_020778.5(ALPK3):c.3175C>T (p.Arg1059Ter) rs749465164 0.00004
NM_031307.4(PUS3):c.212A>G (p.Tyr71Cys) rs761792490 0.00004
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter) rs398124478 0.00004
NM_145200.5(CABP4):c.646C>T (p.Arg216Ter) rs150115958 0.00004
NM_153766.3(KCNJ1):c.601C>T (p.Leu201Phe) rs200320892 0.00004
NM_173076.3(ABCA12):c.4139A>G (p.Asn1380Ser) rs28940269 0.00004
NM_212552.3(BOLA3):c.136C>T (p.Arg46Ter) rs143492730 0.00004
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met) rs113994169 0.00003
NM_000022.4(ADA):c.478+1G>A rs761242509 0.00003
NM_000157.4(GBA1):c.475C>T (p.Arg159Trp) rs439898 0.00003
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter) rs138149179 0.00003
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu) rs80338701 0.00003
NM_000338.3(SLC12A1):c.1432G>A (p.Gly478Arg) rs758166864 0.00003
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404 0.00003
NM_000400.4(ERCC2):c.2047C>T (p.Arg683Trp) rs41556519 0.00003
NM_000402.4(G6PD):c.682C>T (p.Arg228Cys) rs137852330 0.00003
NM_000406.3(GNRHR):c.806C>T (p.Thr269Met) rs369176613 0.00003
NM_000426.4(LAMA2):c.5476C>T (p.Arg1826Ter) rs747349942 0.00003
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp) rs119103229 0.00003
NM_001363118.2(SLC52A2):c.808C>T (p.Gln270Ter) rs375088539 0.00003
NM_004004.6(GJB2):c.550C>T (p.Arg184Trp) rs998045226 0.00003
NM_004482.4(GALNT3):c.1312C>T (p.Arg438Cys) rs764730691 0.00003
NM_004646.4(NPHS1):c.3481+1G>T rs142883811 0.00003
NM_005085.4(NUP214):c.112C>T (p.Arg38Cys) rs143595616 0.00003
NM_005957.5(MTHFR):c.1699C>T (p.Arg567Ter) rs140277700 0.00003
NM_006846.4(SPINK5):c.1111C>T (p.Arg371Ter) rs777436361 0.00003
NM_012144.4(DNAI1):c.1222G>A (p.Val408Met) rs794727103 0.00003
NM_014967.5(FAN1):c.2616del (p.Asp873fs) rs750056424 0.00003
NM_017807.4(OSGEP):c.740G>A (p.Arg247Gln) rs773173317 0.00003
NM_018122.5(DARS2):c.172C>G (p.Arg58Gly) rs375700548 0.00003
NM_018255.4(ELP2):c.1657C>T (p.Gln553Ter) rs1400164869 0.00003
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter) rs147030232 0.00003
NM_138694.4(PKHD1):c.353del (p.Ser118fs) rs398124483 0.00003
NM_174889.5(NDUFAF2):c.114C>G (p.Tyr38Ter) rs199754807 0.00003
NM_198239.2(CCN6):c.156C>A (p.Cys52Ter) rs121908901 0.00003
NM_000051.4(ATM):c.3993+1G>A rs200196781 0.00002
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys) rs587782292 0.00002
NM_000094.4(COL7A1):c.1732C>T (p.Arg578Ter) rs144023803 0.00002
NM_000135.4(FANCA):c.2778+1G>A rs140180549 0.00002
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_000153.4(GALC):c.857G>A (p.Gly286Asp) rs199847983 0.00002
NM_000197.2(HSD17B3):c.695C>T (p.Ser232Leu) rs28939085 0.00002
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp) rs104894526 0.00002
NM_000348.4(SRD5A2):c.607G>A (p.Gly203Ser) rs9332961 0.00002
NM_000404.4(GLB1):c.1445G>A (p.Arg482His) rs72555391 0.00002
NM_000520.6(HEXA):c.1421+1G>C rs147324677 0.00002
NM_000527.5(LDLR):c.268G>A (p.Asp90Asn) rs749038326 0.00002
NM_001010892.3(RSPH4A):c.1453C>T (p.Arg485Ter) rs1034327724 0.00002
NM_001034116.2(EIF2B4):c.626G>A (p.Arg209Gln) rs113994028 0.00002
NM_001081.4(CUBN):c.10233G>A (p.Trp3411Ter) rs144484373 0.00002
NM_001282225.2(ADA2):c.336C>G (p.His112Gln) rs587777241 0.00002
NM_001298.3(CNGA3):c.450-1G>A rs754158805 0.00002
NM_001377.3(DYNC2H1):c.5547del (p.Phe1849fs) rs771003300 0.00002
NM_001378454.1(ALMS1):c.4153dup (p.Thr1385fs) rs797045228 0.00002
NM_001395413.1(POR):c.1606G>A (p.Gly536Arg) rs121912976 0.00002
NM_001399.5(EDA):c.463C>T (p.Arg155Cys) rs132630312 0.00002
NM_001458.5(FLNC):c.4636G>A (p.Gly1546Ser) rs774263134 0.00002
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu) rs370228071 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_004482.4(GALNT3):c.892del (p.Tyr298fs) rs762936774 0.00002
NM_006580.4(CLDN16):c.243G>T (p.Leu81Phe) rs104893729 0.00002
NM_006846.4(SPINK5):c.81+2T>A rs1131691490 0.00002
NM_014049.5(ACAD9):c.796C>T (p.Arg266Trp) rs753711253 0.00002
NM_015978.3(TNNI3K):c.2302G>A (p.Glu768Lys) rs202238194 0.00002
NM_016580.4(PCDH12):c.922C>T (p.Arg308Ter) rs370283860 0.00002
NM_018238.4(AGK):c.672C>A (p.Tyr224Ter) rs771945804 0.00002
NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter) rs767745816 0.00002
NM_020442.6(VARS2):c.1834_1835del (p.Leu612fs) rs777028011 0.00002
NM_024306.5(FA2H):c.565C>T (p.Arg189Ter) rs765086319 0.00002
NM_025243.4(SLC19A3):c.81_82dup (p.Met28fs) rs775835429 0.00002
NM_031407.7(HUWE1):c.12559C>T (p.Arg4187Cys) rs121918527 0.00002
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln) rs104886308 0.00002
NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter) rs201082169 0.00002
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala) rs199568593 0.00002
NM_152416.4(NDUFAF6):c.420+784C>T rs749738738 0.00002
NM_153240.5(NPHP3):c.3775C>T (p.Arg1259Ter) rs758716466 0.00002
NM_153676.4(USH1C):c.216G>A (p.Val72=) rs151045328 0.00002
NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter) rs199679165 0.00002
NM_206933.4(USH2A):c.9371+1G>C rs41308425 0.00002
NM_000020.3(ACVRL1):c.1121G>A (p.Arg374Gln) rs1060503248 0.00001
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln) rs121909284 0.00001
NM_000030.3(AGXT):c.364C>T (p.Arg122Ter) rs180177210 0.00001
NM_000044.6(AR):c.2668G>A (p.Val890Met) rs886041133 0.00001
NM_000054.7(AVPR2):c.409C>T (p.Arg137Cys) rs104894761 0.00001
NM_000085.5(CLCNKB):c.226C>T (p.Arg76Ter) rs370985865 0.00001
NM_000091.5(COL4A3):c.1594G>T (p.Gly532Cys) rs779575469 0.00001
NM_000092.5(COL4A4):c.2617G>A (p.Gly873Arg) rs929684384 0.00001
NM_000092.5(COL4A4):c.4129C>T (p.Arg1377Ter) rs121912861 0.00001
NM_000094.4(COL7A1):c.8245G>A (p.Gly2749Arg) rs121912853 0.00001
NM_000110.4(DPYD):c.61C>T (p.Arg21Ter) rs72549310 0.00001
NM_000132.4(F8):c.5302C>T (p.Arg1768Cys) rs1046670041 0.00001
NM_000138.5(FBN1):c.5788+5G>A rs193922219 0.00001
NM_000153.4(GALC):c.1630G>A (p.Asp544Asn) rs387906952 0.00001
NM_000155.4(GALT):c.443G>A (p.Arg148Gln) rs111033694 0.00001
NM_000159.4(GCDH):c.383G>A (p.Arg128Gln) rs755586631 0.00001
NM_000169.3(GLA):c.644A>G (p.Asn215Ser) rs28935197 0.00001
NM_000170.3(GLDC):c.2368C>T (p.Arg790Trp) rs386833556 0.00001
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter) rs770225915 0.00001
NM_000218.3(KCNQ1):c.1031C>T (p.Ala344Val) rs199472763 0.00001
NM_000235.4(LIPA):c.111+1G>A rs762960877 0.00001
NM_000238.4(KCNH2):c.3040C>T (p.Arg1014Ter) rs794728403 0.00001
NM_000257.4(MYH7):c.1816G>A (p.Val606Met) rs121913627 0.00001
NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met) rs28942104 0.00001
NM_000271.5(NPC1):c.3493G>A (p.Val1165Met) rs748862167 0.00001
NM_000277.3(PAH):c.169-2A>G rs1226613045 0.00001
NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter) rs1324209174 0.00001
NM_000297.4(PKD2):c.2533C>T (p.Arg845Ter) rs369678636 0.00001
NM_000297.4(PKD2):c.973C>T (p.Arg325Ter) rs1060503526 0.00001
NM_000310.4(PPT1):c.325T>G (p.Tyr109Asp) rs386833642 0.00001
NM_000330.4(RS1):c.304C>T (p.Arg102Trp) rs61752067 0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601 0.00001
NM_000350.3(ABCA4):c.247_250dup (p.Ser84fs) rs1005271380 0.00001
NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg) rs61750135 0.00001
NM_000350.3(ABCA4):c.4463G>T (p.Cys1488Phe) rs61750147 0.00001
NM_000350.3(ABCA4):c.658C>T (p.Arg220Cys) rs61748538 0.00001
NM_000359.3(TGM1):c.790C>T (p.Arg264Trp) rs201868387 0.00001
NM_000360.4(TH):c.1103C>T (p.Thr368Met) rs1057520384 0.00001
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp) rs104894724 0.00001
NM_000363.5(TNNI3):c.610C>T (p.Arg204Cys) rs727504243 0.00001
NM_000404.4(GLB1):c.1480-2A>G rs587776526 0.00001
NM_000434.4(NEU1):c.615G>A (p.Gln205=) rs781137251 0.00001
NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser) rs1060499808 0.00001
NM_000441.2(SLC26A4):c.916dup (p.Val306fs) rs768245266 0.00001
NM_000487.6(ARSA):c.1115G>A (p.Arg372Gln) rs74315477 0.00001
NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys) rs121907952 0.00001
NM_000520.6(HEXA):c.233G>A (p.Trp78Ter) rs769035623 0.00001
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) rs45438205 0.00001
NM_000891.3(KCNJ2):c.430G>A (p.Gly144Ser) rs199473378 0.00001
NM_001005242.3(PKP2):c.1132C>T (p.Gln378Ter) rs397516986 0.00001
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs) rs1555455457 0.00001
NM_001009944.3(PKD1):c.8017-2_8017-1del rs1567180636 0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897 0.00001
NM_001009944.3(PKD1):c.9202-16G>A rs1389523126 0.00001
NM_001034116.2(EIF2B4):c.728C>T (p.Pro243Leu) rs113994030 0.00001
NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp) rs190140598 0.00001
NM_001042432.2(CLN3):c.949C>T (p.Gln317Ter) rs796052335 0.00001
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556 0.00001
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter) rs760703505 0.00001
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) rs797045139 0.00001
NM_001042492.3(NF1):c.574C>T (p.Arg192Ter) rs397514641 0.00001
NM_001042631.3(SDHAF1):c.28C>T (p.Gln10Ter) rs1397859218 0.00001
NM_001114753.3(ENG):c.1309C>T (p.Arg437Trp) rs1434169817 0.00001
NM_001126108.2(SLC12A3):c.1180+1G>T rs749098014 0.00001
NM_001126108.2(SLC12A3):c.1926-1G>T rs755560627 0.00001
NM_001126108.2(SLC12A3):c.3025C>T (p.Arg1009Ter) rs781209989 0.00001
NM_001127222.2(CACNA1A):c.1594G>A (p.Glu532Lys) rs1064794263 0.00001
NM_001198800.3(ASCC1):c.583C>T (p.Gln195Ter) rs769501930 0.00001
NM_001204.7(BMPR2):c.1771C>T (p.Arg591Ter) rs777458559 0.00001
NM_001253852.3(AP4B1):c.1216C>T (p.Arg406Ter) rs776976178 0.00001
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys) rs397516463 0.00001
NM_001369.3(DNAH5):c.5177T>C (p.Leu1726Pro) rs138890576 0.00001
NM_001371596.2(MFSD8):c.1235C>T (p.Pro412Leu) rs267607235 0.00001
NM_001371986.1(UNC80):c.286C>T (p.Arg96Ter) rs538956139 0.00001
NM_001377295.2(GNAT2):c.937C>T (p.Arg313Ter) rs748981899 0.00001
NM_001378615.1(CC2D2A):c.3763C>T (p.Arg1255Ter) rs1271825377 0.00001
NM_001384732.1(CPLANE1):c.2932C>T (p.Arg978Ter) rs1359437084 0.00001
NM_001698.3(AUH):c.263-2A>G rs730880311 0.00001
NM_002055.5(GFAP):c.1154C>G (p.Ser385Cys) rs797044590 0.00001
NM_002180.3(IGHMBP2):c.1273C>T (p.Arg425Cys) rs1303837541 0.00001
NM_002472.3(MYH8):c.2021G>A (p.Arg674Gln) rs121434590 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_003801.4(GPAA1):c.619del (p.Met207fs) rs782615259 0.00001
NM_004281.4(BAG3):c.367C>T (p.Arg123Ter) rs387906875 0.00001
NM_004444.5(EPHB4):c.1093C>T (p.Arg365Ter) rs1279971868 0.00001
NM_004612.4(TGFBR1):c.1460G>A (p.Arg487Gln) rs113605875 0.00001
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413 0.00001
NM_005631.5(SMO):c.1726C>T (p.Arg576Trp) rs767688088 0.00001
NM_005677.4(COLQ):c.1195+1G>A rs755782087 0.00001
NM_005677.4(COLQ):c.943C>T (p.Arg315Ter) rs121908924 0.00001
NM_005957.5(MTHFR):c.1013T>C (p.Met338Thr) rs368321176 0.00001
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met) rs121434502 0.00001
NM_006397.3(RNASEH2A):c.69G>A (p.Val23=) rs397515480 0.00001
NM_006412.4(AGPAT2):c.202C>T (p.Arg68Ter) rs104894093 0.00001
NM_006759.4(UGP2):c.34A>G (p.Met12Val) rs768305634 0.00001
NM_006846.4(SPINK5):c.2557C>T (p.Arg853Ter) rs753621591 0.00001
NM_007103.4(NDUFV1):c.1156C>T (p.Arg386Cys) rs150966634 0.00001
NM_007198.4(PLPBP):c.722G>A (p.Arg241Gln) rs760609867 0.00001
NM_007214.5(SEC63):c.292C>T (p.Arg98Ter) rs768568123 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs) rs1234745577 0.00001
NM_014804.3(KIAA0753):c.1546-3C>A rs886038201 0.00001
NM_014804.3(KIAA0753):c.1891A>T (p.Lys631Ter) rs886038200 0.00001
NM_015909.4(NBAS):c.2951T>G (p.Ile984Ser) rs140841721 0.00001
NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln) rs121908987 0.00001
NM_017662.5(TRPM6):c.841+1G>A rs371363425 0.00001
NM_017721.5(CC2D1A):c.2347C>T (p.Arg783Ter) rs779620838 0.00001
NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter) rs386834034 0.00001
NM_018238.4(AGK):c.409C>T (p.Arg137Ter) rs746709222 0.00001
NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys) rs397515405 0.00001
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) rs77939446 0.00001
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys) rs745571683 0.00001
NM_022552.5(DNMT3A):c.1243C>T (p.Gln415Ter) rs754223052 0.00001
NM_024740.2(ALG9):c.1363C>T (p.Arg455Ter) rs782775735 0.00001
NM_025114.4(CEP290):c.451C>T (p.Arg151Ter) rs757641323 0.00001
NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter) rs201196733 0.00001
NM_054012.4(ASS1):c.370G>A (p.Asp124Asn) rs936192871 0.00001
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter) rs781368899 0.00001
NM_138694.4(PKHD1):c.11398+2T>C rs754038777 0.00001
NM_138694.4(PKHD1):c.1690C>T (p.Arg564Ter) rs765251347 0.00001
NM_138694.4(PKHD1):c.7350+653A>G rs1240212722 0.00001
NM_138694.4(PKHD1):c.8824C>T (p.Arg2942Ter) rs398124500 0.00001
NM_138694.4(PKHD1):c.8935C>T (p.Arg2979Ter) rs765020336 0.00001
NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter) rs786204688 0.00001
NM_152906.7(TANGO2):c.256C>T (p.Arg86Ter) rs1162037663 0.00001
NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter) rs762551629 0.00001
NM_153704.6(TMEM67):c.2322+2dup rs386834192 0.00001
NM_201525.4(ADGRG1):c.235C>T (p.Arg79Ter) rs780718243 0.00001
NM_201548.5(CERKL):c.967_968del (p.Met323fs) rs750151209 0.00001
NM_206933.4(USH2A):c.1841-2A>G rs397518003 0.00001
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter) rs534534437 0.00001
NM_206933.4(USH2A):c.3317-2A>G rs2034951427 0.00001
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter) rs397518041 0.00001
GRCh37/hg19 16p13.11(chr16:16248791-16260443)
GRCh37/hg19 6p21.33(chr6:31824828-31834398)
GRCh37/hg19 Xq21.1(chrX:77238734-77312616)
NC_000001.11:g.196706898_196873196del
NC_000002.12:g.43986415_44009956del
NC_000013.11:g.20222821_20531941del
NC_000017.11:g.3600934_3658165del
NC_000022.11:g.20041466_20075200del
NC_000023.11:g.153714363_153781647del
NC_000023.11:g.31762447_31872385del
NC_012920.1:m.11778G>A rs199476112
NC_012920.1:m.3243A>G rs199474657
NC_012920.1:m.8350_13450del
NC_012920.1:m.8480_13440del
NM_000018.4(ACADVL):c.552C>A (p.Ile184=) rs770961747
NM_000019.4(ACAT1):c.369_372del (p.Asn123fs)
NM_000020.3(ACVRL1):c.1069C>T (p.Gln357Ter) rs2139075900
NM_000020.3(ACVRL1):c.140G>C (p.Arg47Pro) rs774389618
NM_000020.3(ACVRL1):c.1435C>T (p.Arg479Ter) rs1057517944
NM_000020.3(ACVRL1):c.435del (p.Arg146fs) rs2139067539
NM_000020.3(ACVRL1):c.475G>T (p.Glu159Ter) rs1940756257
NM_000021.4(PSEN1):c.656T>C (p.Leu219Pro) rs63750761
NM_000021.4(PSEN1):c.869-1G>A rs63750219
NM_000030.3(AGXT):c.33dup (p.Lys12fs) rs180177201
NM_000033.4(ABCD1):c.1201C>T (p.Arg401Trp) rs727503786
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln) rs1557055340
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys) rs78340951
NM_000044.6(AR):c.2494C>G (p.Arg832Gly) rs2147537840
NM_000044.6(AR):c.2495G>A (p.Arg832Gln) rs1386577803
NM_000044.6(AR):c.2566C>T (p.Arg856Cys) rs886041132
NM_000044.6(AR):c.754G>T (p.Glu252Ter)
NM_000046.5(ARSB):c.962T>C (p.Leu321Pro) rs1554079320
NM_000048.4(ASL):c.556C>T (p.Arg186Trp) rs111407265
NM_000051.4(ATM):c.1215del (p.Asn405fs) rs1555069815
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.4(ATM):c.7550del (p.Leu2517fs) rs2136492942
NM_000051.4(ATM):c.7629_7629+4del rs876660041
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs) rs1450394308
NM_000052.7(ATP7A):c.2280C>G (p.Tyr760Ter)
NM_000053.4(ATP7B):c.111dup (p.Ala38fs) rs1555296939
NM_000053.4(ATP7B):c.2532del (p.Val845fs) rs755709270
NM_000053.4(ATP7B):c.2692C>T (p.Gln898Ter) rs1957898187
NM_000054.7(AVPR2):c.541C>T (p.Arg181Cys) rs104894757
NM_000054.7(AVPR2):c.832GTC[1] (p.Val279del) rs2064967091
NM_000061.3(BTK):c.1257del (p.Lys420fs) rs2147428293
NM_000061.3(BTK):c.1558C>T (p.Arg520Ter) rs128621201
NM_000074.3(CD40LG):c.478C>T (p.Gln160Ter) rs767889061
NM_000085.5(CLCNKB):c.619del (p.Val207fs)
NM_000088.4(COL1A1):c.1138G>A (p.Gly380Ser) rs72648313
NM_000088.4(COL1A1):c.1299+1G>A rs66490707
NM_000088.4(COL1A1):c.1812del (p.Gly605fs) rs193922143
NM_000088.4(COL1A1):c.2072del (p.Pro691fs) rs72651639
NM_000088.4(COL1A1):c.2569G>T (p.Gly857Cys) rs72653141
NM_000088.4(COL1A1):c.3118G>A (p.Gly1040Ser) rs72653178
NM_000088.4(COL1A1):c.319_322dup (p.Thr108fs)
NM_000088.4(COL1A1):c.3505G>A (p.Gly1169Ser) rs67815019
NM_000088.4(COL1A1):c.3540del (p.Gly1181fs)
NM_000088.4(COL1A1):c.3652G>A (p.Ala1218Thr) rs72656337
NM_000088.4(COL1A1):c.3819_3822delinsTTGATTGTGGTCCACAGGGT (p.Glu1273_Tyr1274delinsAspTer)
NM_000088.4(COL1A1):c.452dup (p.Pro152fs) rs2144590955
NM_000088.4(COL1A1):c.697-2A>C
NM_000088.4(COL1A1):c.769G>A (p.Gly257Arg) rs72645321
NM_000091.5(COL4A3):c.2162del (p.Gly721fs) rs1399954090
NM_000092.5(COL4A4):c.2279dup (p.Asp761fs) rs1553643669
NM_000092.5(COL4A4):c.230G>C (p.Gly77Ala) rs112204566
NM_000092.5(COL4A4):c.2377del (p.Ala793fs) rs1976320157
NM_000092.5(COL4A4):c.2638del (p.Ala880fs) rs778043831
NM_000092.5(COL4A4):c.446G>T (p.Gly149Val) rs374815903
NM_000094.4(COL7A1):c.3840del (p.Gly1281fs) rs757688782
NM_000094.4(COL7A1):c.7474C>T (p.Arg2492Ter) rs765529435
NM_000098.3(CPT2):c.1239_1240del (p.Lys414fs) rs397509431
NM_000108.5(DLD):c.1436A>T (p.Asp479Val) rs397514649
NM_000110.4(DPYD):c.2650G>T (p.Glu884Ter)
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) rs727504327
NM_000116.5(TAFAZZIN):c.580dup (p.Trp194fs) rs2148211636
NM_000117.3(EMD):c.650_654dup (p.Gln219fs) rs730880352
NM_000122.2(ERCC3):c.1300G>T (p.Glu434Ter)
NM_000123.4(ERCC5):c.2766dup (p.Leu923fs) rs760232640
NM_000127.3(EXT1):c.1656del (p.Tyr553fs) rs1823353269
NM_000132.4(F8):c.2163G>T (p.Met721Ile) rs1218576358
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs) rs397507552
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000138.5(FBN1):c.1556A>G (p.Tyr519Cys) rs1555400278
NM_000138.5(FBN1):c.2629_2645dup (p.Trp883fs)
NM_000138.5(FBN1):c.4460A>G (p.Asp1487Gly) rs1555397216
NM_000138.5(FBN1):c.4657_4658del (p.Ile1553fs)
NM_000138.5(FBN1):c.6425G>A (p.Cys2142Tyr) rs794728335
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter) rs113001196
NM_000138.5(FBN1):c.6872-961A>G rs1597519658
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) rs137854480
NM_000138.5(FBN1):c.7240C>T (p.Arg2414Ter) rs112550005
NM_000138.5(FBN1):c.7712G>A (p.Cys2571Tyr) rs1555394153
NM_000138.5(FBN1):c.8021G>A (p.Cys2674Tyr) rs1555393827
NM_000140.5(FECH):c.40del (p.Ala14fs)
NM_000141.5(FGFR2):c.1141T>G (p.Tyr381Asp) rs387906678
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000156.6(GAMT):c.299_311dup (p.Arg105fs) rs80338736
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln) rs566417795
NM_000168.6(GLI3):c.2374C>T (p.Arg792Ter) rs121917714
NM_000168.6(GLI3):c.438C>G (p.Tyr146Ter) rs151222023
NM_000169.3(GLA):c.374A>T (p.His125Leu)
NM_000169.3(GLA):c.383G>A (p.Gly128Glu)
NM_000179.3(MSH6):c.3188T>G (p.Leu1063Arg) rs1060502901
NM_000194.3(HPRT1):c.568G>T (p.Gly190Ter)
NM_000203.5(IDUA):c.1456G>T (p.Glu486Ter) rs1356329915
NM_000206.3(IL2RG):c.865C>T (p.Arg289Ter) rs137852508
NM_000214.3(JAG1):c.1181dup (p.Asn394fs)
NM_000214.3(JAG1):c.1961del (p.Ile654fs)
NM_000214.3(JAG1):c.95C>A (p.Ser32Ter) rs2122644940
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) rs120074177
NM_000238.4(KCNH2):c.1128G>A (p.Gln376=) rs770047651
NM_000238.4(KCNH2):c.1557+1G>C rs886039043
NM_000238.4(KCNH2):c.1819del (p.Ile607fs) rs2116960827
NM_000238.4(KCNH2):c.1841C>T (p.Ala614Val) rs199472944
NM_000238.4(KCNH2):c.1882G>A (p.Gly628Ser) rs121912507
NM_000238.4(KCNH2):c.1886A>G (p.Asn629Ser) rs199472957
NM_000238.4(KCNH2):c.206T>C (p.Leu69Pro) rs199473665
NM_000238.4(KCNH2):c.232G>A (p.Ala78Thr) rs199472848
NM_000238.4(KCNH2):c.2959_2960del (p.Leu987fs) rs748706373
NM_000238.4(KCNH2):c.3099dup (p.Pro1034fs)
NM_000238.4(KCNH2):c.817C>T (p.Arg273Ter) rs552583527
NM_000252.2(MTM1):c.-76_-11del
NM_000252.3(MTM1):c.1205G>T (p.Gly402Val)
NM_000252.3(MTM1):c.153C>A (p.Tyr51Ter) rs2148434034
NM_000252.3(MTM1):c.226G>T (p.Glu76Ter) rs1057516031
NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys) rs606231324
NM_000257.4(MYH7):c.2539A>G (p.Lys847Glu) rs727504310
NM_000264.5(PTCH1):c.1603-2A>G rs1064793921
NM_000266.4(NDP):c.223_224dup (p.Glu76fs)
NM_000268.4(NF2):c.592C>T (p.Arg198Ter) rs1555993345
NM_000271.5(NPC1):c.721C>T (p.Gln241Ter) rs1064795718
NM_000272.5(NPHP1):c.(?_-45)_(*443_?)del
NM_000273.3(GPR143):c.36del (p.Thr13fs)
NM_000275.3(OCA2):c.1248dup (p.Leu417fs)
NM_000276.4(OCRL):c.1210C>T (p.Gln404Ter)
NM_000276.4(OCRL):c.2530C>T (p.Arg844Ter) rs387906484
NM_000276.4(OCRL):c.2581G>A (p.Ala861Thr)
NM_000277.3(PAH):c.357del (p.Trp120fs) rs794727619
NM_000282.4(PCCA):c.217G>T (p.Glu73Ter) rs2152278559
NM_000284.4(PDHA1):c.483C>T (p.Tyr161=) rs398123300
NM_000284.4(PDHA1):c.628A>G (p.Met210Val) rs794727843
NM_000284.4(PDHA1):c.934_940del (p.Ser312fs) rs606231185
NM_000297.4(PKD2):c.110del (p.Gly37fs) rs2110080128
NM_000297.4(PKD2):c.1197del (p.Glu400fs) rs2110112181
NM_000297.4(PKD2):c.1349G>A (p.Gly450Asp) rs1578135842
NM_000297.4(PKD2):c.1774C>T (p.Arg592Ter) rs1553926905
NM_000297.4(PKD2):c.2159dup (p.Asn720fs) rs757757289
NM_000297.4(PKD2):c.2407C>T (p.Arg803Ter) rs778235410
NM_000297.4(PKD2):c.2522+1_2522+2del rs1720863460
NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter) rs755226061
NM_000297.4(PKD2):c.709+1G>A rs398123308
NM_000308.4(CTSA):c.946C>T (p.Gln316Ter) rs200565348
NM_000310.4(PPT1):c.169dup (p.Met57fs) rs386833634
NM_000313.4(PROS1):c.1764_1765del (p.Pro589fs) rs2107125195
NM_000314.8(PTEN):c.103A>G (p.Met35Val) rs876659443
NM_000314.8(PTEN):c.140G>A (p.Arg47Lys) rs1057518425
NM_000314.8(PTEN):c.253+1G>A rs587776667
NM_000314.8(PTEN):c.371G>A (p.Cys124Tyr) rs876660535
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp) rs121909241
NM_000314.8(PTEN):c.397G>A (p.Val133Ile) rs1859977307
NM_000314.8(PTEN):c.406T>C (p.Cys136Arg) rs786201044
NM_000314.8(PTEN):c.494G>A (p.Gly165Glu) rs786204863
NM_000314.8(PTEN):c.548dup (p.Asn184fs) rs1554900593
NM_000314.8(PTEN):c.658_659dup (p.Leu220_Lys221insTer) rs2132276566
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000314.8(PTEN):c.867del (p.Lys289_Val290insTer)
NM_000314.8(PTEN):c.900del (p.Ile300fs) rs797045904
NM_000321.3(RB1):c.606del (p.Glu204fs) rs1593438023
NM_000330.4(RS1):c.103C>T (p.Gln35Ter)
NM_000335.5(SCN5A):c.1231G>A (p.Val411Met) rs72549410
NM_000335.5(SCN5A):c.4471AAG[1] (p.Lys1492del) rs869025522
NM_000338.3(SLC12A1):c.1966C>T (p.Gln656Ter)
NM_000342.4(SLC4A1):c.1199_1225del (p.Ala400_Ala408del) rs769664228
NM_000344.4(SMN1):c.291del (p.Lys97fs) rs2112806309
NM_000344.4(SMN1):c.549del (p.Lys184fs) rs2112806512
NM_000344.4(SMN1):c.785G>T (p.Ser262Ile) rs1554066659
NM_000344.4(SMN1):c.815A>G (p.Tyr272Cys) rs104893922
NM_000346.4(SOX9):c.218T>C (p.Ile73Thr) rs2143238589
NM_000346.4(SOX9):c.517A>T (p.Lys173Ter) rs104894647
NM_000348.4(SRD5A2):c.164T>C (p.Leu55Pro) rs121434245
NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp) rs61748529
NM_000350.3(ABCA4):c.4981del (p.Pro1660_Leu1661insTer) rs2101022823
NM_000352.6(ABCC8):c.3773dup (p.Val1259fs) rs2133411551
NM_000363.5(TNNI3):c.433C>G (p.Arg145Gly) rs104894724
NM_000368.5(TSC1):c.2096del (p.His699fs)
NM_000368.5(TSC1):c.682C>T (p.Arg228Ter) rs118203427
NM_000372.5(TYR):c.1037G>A (p.Gly346Glu) rs773970123
NM_000372.5(TYR):c.1237del (p.Glu413fs) rs1565423615
NM_000377.3(WAS):c.1453G>A (p.Asp485Asn) rs1064793293
NM_000377.3(WAS):c.257G>A (p.Arg86His) rs132630268
NM_000379.4(XDH):c.140dup (p.Cys48fs) rs773456900
NM_000380.4(XPA):c.640dup (p.Met214fs)
NM_000380.4(XPA):c.759dup (p.Asp254fs)
NM_000388.4(CASR):c.554G>A (p.Arg185Gln) rs104893689
NM_000390.4(CHM):c.1584_1587del (p.Val529fs) rs587776746
NM_000390.4(CHM):c.751_752del (p.Asn250_Val251insTer)
NM_000390.4(CHM):c.941-1G>A
NM_000390.4(CHM):c.999_1000insT (p.Gln334fs)
NM_000391.4(TPP1):c.1012C>G (p.Gln338Glu)
NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp) rs750428882
NM_000393.5(COL5A2):c.1401G>A (p.Pro467=) rs1553515794
NM_000397.4(CYBB):c.1314+1G>C rs2146818103
NM_000397.4(CYBB):c.925G>A (p.Glu309Lys) rs151344466
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000404.4(GLB1):c.1077del (p.Val360fs) rs727503952
NM_000404.4(GLB1):c.390G>A (p.Trp130Ter) rs2125548643
NM_000404.4(GLB1):c.733+6T>C
NM_000405.5(GM2A):c.209del (p.Gly70fs) rs2114032531
NM_000414.4(HSD17B4):c.1517G>A (p.Arg506His) rs1554068136
NM_000414.4(HSD17B4):c.31dup (p.Val11fs)
NM_000422.3(KRT17):c.281G>A (p.Arg94His) rs28928897
NM_000426.4(LAMA2):c.442del (p.Arg148fs)
NM_000427.3(LORICRIN):c.515dup (p.Gly173fs)
NM_000435.3(NOTCH3):c.6405_6406del (p.Leu2137fs)
NM_000435.3(NOTCH3):c.994C>T (p.Arg332Cys) rs137852641
NM_000440.3(PDE6A):c.1960C>T (p.Gln654Ter) rs1581166539
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del) rs111033306
NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs) rs786204450
NM_000441.2(SLC26A4):c.1829C>A (p.Ser610Ter) rs1562839439
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) rs397516427
NM_000441.2(SLC26A4):c.664G>A (p.Gly222Ser)
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000444.6(PHEX):c.1972dup (p.Arg658fs)
NM_000444.6(PHEX):c.2239C>T (p.Arg747Ter) rs886041227
NM_000458.4(HNF1B):c.187del (p.His63fs) rs2034117925
NM_000458.4(HNF1B):c.477del (p.Pro159_Met160insTer)
NM_000458.4(HNF1B):c.481A>T (p.Lys161Ter) rs2033928772
NM_000458.4(HNF1B):c.529C>T (p.Arg177Ter)
NM_000458.4(HNF1B):c.544+3_544+6del
NM_000458.4(HNF1B):c.544C>T (p.Gln182Ter)
NM_000458.4(HNF1B):c.61dup (p.Val21fs) rs2034124973
NM_000458.4(HNF1B):c.628del (p.Ser210fs) rs2147553490
NM_000458.4(HNF1B):c.826C>T (p.Arg276Ter)
NM_000466.3(PEX1):c.2396dup (p.Ser800fs) rs778871894
NM_000466.3(PEX1):c.2916del (p.Gly973fs) rs61750426
NM_000466.3(PEX1):c.831_834del (p.Ser278fs) rs2116245323
NM_000474.4(TWIST1):c.358C>G (p.Arg120Gly) rs1233220987
NM_000475.5(NR0B1):c.1350del (p.Arg450fs)
NM_000479.5(AMH):c.1165G>T (p.Glu389Ter)
NM_000481.4(AMT):c.14dup (p.Ser6fs) rs773988915
NM_000484.4(APP):c.2077G>C (p.Glu693Gln) rs63750579
NM_000484.4(APP):c.2149G>A (p.Val717Ile) rs63750264
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg) rs74315471
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_000490.5(AVP):c.347G>A (p.Cys116Tyr) rs2148570601
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000503.6(EYA1):c.1259del (p.Leu420fs) rs1809266780
NM_000503.6(EYA1):c.682C>T (p.Gln228Ter) rs1563422304
NM_000527.5(LDLR):c.1244_1245del (p.Asp415fs)
NM_000527.5(LDLR):c.337G>T (p.Glu113Ter)
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000531.6(OTC):c.622G>A (p.Ala208Thr) rs72558416
NM_000536.4(RAG2):c.1247G>T (p.Trp416Leu) rs193922572
NM_000540.3(RYR1):c.5989G>A (p.Glu1997Lys) rs1366464512
NM_000545.8(HNF1A):c.335C>T (p.Pro112Leu) rs137853243
NM_000545.8(HNF1A):c.872dup (p.Gly292fs) rs587776825
NM_000548.5(TSC2):c.136A>T (p.Arg46Ter) rs137854266
NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp) rs397514914
NM_000548.5(TSC2):c.3397+4A>G
NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp) rs45517412
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del) rs137854218
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000642.3(AGL):c.1020del (p.Glu340fs) rs1651357012
NM_000642.3(AGL):c.3179C>G (p.Ser1060Ter) rs774926455
NM_000701.8(ATP1A1):c.1798C>G (p.Pro600Ala) rs1553192091
NM_000719.7(CACNA1C):c.1159dup (p.Thr387fs) rs2154577568
NM_000719.7(CACNA1C):c.1552C>T (p.Arg518Cys) rs786205748
NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu) rs28931591
NM_000810.4(GABRA5):c.902C>T (p.Thr301Met) rs1595438268
NM_000814.6(GABRB3):c.929T>G (p.Leu310Arg)
NM_000815.5(GABRD):c.778C>G (p.Leu260Val)
NM_000834.5(GRIN2B):c.1844A>G (p.Asn615Ser)
NM_000834.5(GRIN2B):c.2539C>T (p.Arg847Ter) rs879253931
NM_000834.5(GRIN2B):c.99dup (p.Ser34fs) rs398122823
NM_000891.3(KCNJ2):c.935G>A (p.Arg312His) rs786205820
NM_000944.5(PPP3CA):c.844G>A (p.Glu282Lys) rs1553923787
NM_001002295.2(GATA3):c.1099C>T (p.Arg367Ter) rs104894164
NM_001002295.2(GATA3):c.431dup (p.His145fs) rs1588377948
NM_001002295.2(GATA3):c.790T>A (p.Cys264Ser) rs767074039
NM_001002295.2(GATA3):c.896G>T (p.Arg299Leu) rs2131501118
NM_001002295.2(GATA3):c.924+1G>A
NM_001002295.2(GATA3):c.961T>A (p.Cys321Ser) rs1832898282
NM_001003694.2(BRPF1):c.1217dup (p.Tyr406Ter)
NM_001003694.2(BRPF1):c.1433G>A (p.Trp478Ter) rs2125501418
NM_001004334.4(GPR179):c.984del (p.Ser329fs) rs770066665
NM_001005242.3(PKP2):c.152_153del (p.Val51fs) rs1957127435
NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs) rs397517021
NM_001005242.3(PKP2):c.253_256del (p.Glu85fs) rs786204388
NM_001005242.3(PKP2):c.582T>G (p.Tyr194Ter) rs532048791
NM_001005273.3(CHD3):c.2785C>T (p.Leu929Phe)
NM_001005273.3(CHD3):c.4507C>T (p.Gln1503Ter)
NM_001008537.3(NEXMIF):c.348dup (p.Glu117Ter)
NM_001009944.3(PKD1):c.10008_10009dup (p.Tyr3337fs)
NM_001009944.3(PKD1):c.10087C>T (p.Gln3363Ter) rs2151729320
NM_001009944.3(PKD1):c.10118C>A (p.Ser3373Ter)
NM_001009944.3(PKD1):c.10167+25_10167+43del rs1197421698
NM_001009944.3(PKD1):c.10280dup (p.Ser3428fs) rs2151726918
NM_001009944.3(PKD1):c.10459dup (p.Thr3487fs) rs2151725680
NM_001009944.3(PKD1):c.10583G>A (p.Trp3528Ter) rs1057516041
NM_001009944.3(PKD1):c.10724G>A (p.Trp3575Ter) rs1361283193
NM_001009944.3(PKD1):c.10748del (p.Gly3583fs) rs2151708652
NM_001009944.3(PKD1):c.11538-2A>C
NM_001009944.3(PKD1):c.11623del (p.Ala3875fs) rs2151695526
NM_001009944.3(PKD1):c.11693C>A (p.Ser3898Ter) rs2091572700
NM_001009944.3(PKD1):c.11935C>T (p.Gln3979Ter)
NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter) rs766551411
NM_001009944.3(PKD1):c.12035G>A (p.Trp4012Ter) rs777269070
NM_001009944.3(PKD1):c.12057_12061dup (p.Arg4021fs)
NM_001009944.3(PKD1):c.12061C>T (p.Arg4021Ter) rs764431330
NM_001009944.3(PKD1):c.12444+1G>A rs2091431794
NM_001009944.3(PKD1):c.12596_12612del (p.Val4199fs)
NM_001009944.3(PKD1):c.12657dup (p.Glu4220fs) rs2151676915
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter) rs755496450
NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter) rs1045675831
NM_001009944.3(PKD1):c.12721C>T (p.Gln4241Ter) rs2091391674
NM_001009944.3(PKD1):c.1385+1G>T
NM_001009944.3(PKD1):c.165_171del (p.Leu56fs) rs1555462438
NM_001009944.3(PKD1):c.1660C>T (p.Gln554Ter)
NM_001009944.3(PKD1):c.1987C>T (p.Gln663Ter)
NM_001009944.3(PKD1):c.2085dup (p.Ala696fs) rs1567212531
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.2968_2969delinsT (p.Ala990fs)
NM_001009944.3(PKD1):c.3381_3387dup (p.Ala1130fs)
NM_001009944.3(PKD1):c.3812_3813del (p.Thr1271fs)
NM_001009944.3(PKD1):c.3883G>T (p.Glu1295Ter) rs780119305
NM_001009944.3(PKD1):c.4070del (p.Leu1357fs) rs1596560540
NM_001009944.3(PKD1):c.4105dup (p.His1369fs)
NM_001009944.3(PKD1):c.4306C>T (p.Arg1436Ter) rs1567200516
NM_001009944.3(PKD1):c.4444C>T (p.Gln1482Ter) rs1567200117
NM_001009944.3(PKD1):c.4617G>A (p.Trp1539Ter) rs2151796950
NM_001009944.3(PKD1):c.4650dup (p.Leu1551fs)
NM_001009944.3(PKD1):c.4795dup (p.Tyr1599fs)
NM_001009944.3(PKD1):c.4888C>T (p.Gln1630Ter)
NM_001009944.3(PKD1):c.4919_4925dup (p.Tyr1643fs)
NM_001009944.3(PKD1):c.5776del (p.Ala1926fs) rs2092444151
NM_001009944.3(PKD1):c.6115del (p.Gln2039fs)
NM_001009944.3(PKD1):c.6137del (p.Leu2046fs) rs2092433875
NM_001009944.3(PKD1):c.6288_6289del (p.Phe2096fs)
NM_001009944.3(PKD1):c.6394TTC[1] (p.Phe2133del) rs1555454460
NM_001009944.3(PKD1):c.6795C>G (p.Tyr2265Ter) rs1312494071
NM_001009944.3(PKD1):c.7008C>G (p.Tyr2336Ter) rs2092401442
NM_001009944.3(PKD1):c.7108T>C (p.Cys2370Arg) rs1567187445
NM_001009944.3(PKD1):c.7113_7114dup (p.Ser2372fs)
NM_001009944.3(PKD1):c.7139_7145del (p.Glu2380fs) rs2092356759
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys) rs797044902
NM_001009944.3(PKD1):c.7642G>T (p.Glu2548Ter) rs28369051
NM_001009944.3(PKD1):c.7816C>T (p.Gln2606Ter) rs2092321142
NM_001009944.3(PKD1):c.7833_7835del (p.Tyr2611_Ser2612delinsTer)
NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys) rs1452322332
NM_001009944.3(PKD1):c.8284_8295dup (p.Ile2762_Arg2765dup) rs1596527370
NM_001009944.3(PKD1):c.8299C>T (p.Arg2767Cys) rs2092203712
NM_001009944.3(PKD1):c.8327_8339dup (p.Glu2780fs)
NM_001009944.3(PKD1):c.8645G>A (p.Trp2882Ter)
NM_001009944.3(PKD1):c.9051C>A (p.Tyr3017Ter)
NM_001009944.3(PKD1):c.9383G>A (p.Trp3128Ter)
NM_001009944.3(PKD1):c.9683dup (p.Leu3229fs) rs2151740671
NM_001009944.3(PKD1):c.9874del (p.Leu3292fs)
NM_001010867.4(IBA57):c.262dup (p.Ala88fs) rs1558123212
NM_001010867.4(IBA57):c.292del (p.His98fs)
NM_001012339.3(DNAJC21):c.673G>T (p.Glu225Ter) rs556917839
NM_001018005.2(TPM1):c.188C>T (p.Ala63Val) rs199476306
NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn) rs397516373
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys) rs199476315
NM_001024630.4(RUNX2):c.673C>T (p.Arg225Trp) rs104893992
NM_001024630.4(RUNX2):c.674G>A (p.Arg225Gln) rs104893991
NM_001025295.3(IFITM5):c.-14C>T rs587776916
NM_001032221.6(STXBP1):c.1462-2A>C
NM_001032221.6(STXBP1):c.1651C>T (p.Arg551Cys) rs796053373
NM_001032221.6(STXBP1):c.170-2A>G rs1554776674
NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter) rs794727792
NM_001032221.6(STXBP1):c.386_393delinsATCTGA (p.Thr129fs)
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu) rs796053353
NM_001032221.6(STXBP1):c.794+1G>A rs1554777496
NM_001032221.6(STXBP1):c.795-1G>A rs1554777708
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_001032382.2(PQBP1):c.459_462del (p.Arg153fs) rs606231193
NM_001035.3(RYR2):c.1069G>A (p.Gly357Ser) rs1401116572
NM_001035.3(RYR2):c.13823G>A (p.Arg4608Gln) rs1553328170
NM_001035.3(RYR2):c.14174A>G (p.Tyr4725Cys) rs2149437479
NM_001035.3(RYR2):c.14311G>A (p.Val4771Ile) rs794728804
NM_001035.3(RYR2):c.14569A>G (p.Ile4857Val) rs1085307524
NM_001035.3(RYR2):c.506G>A (p.Arg169Gln) rs397516539
NM_001035.3(RYR2):c.7160C>T (p.Ala2387Val) rs794728754
NM_001035.3(RYR2):c.7175A>G (p.Tyr2392Cys)
NM_001038.6(SCNN1A):c.148del (p.Glu50fs)
NM_001039591.3(USP9X):c.6991dup (p.Tyr2331fs) rs2147266578
NM_001040142.2(SCN2A):c.1318G>T (p.Glu440Ter)
NM_001040142.2(SCN2A):c.4903C>T (p.Arg1635Ter) rs1064794730
NM_001040142.2(SCN2A):c.5636T>C (p.Met1879Thr) rs2105403536
NM_001040142.2(SCN2A):c.5644C>T (p.Arg1882Ter) rs796053166
NM_001040142.2(SCN2A):c.718G>T (p.Ala240Ser) rs1064795014
NM_001040616.3(LINS1):c.304del (p.Arg102fs) rs760477654
NM_001042424.3(NSD2):c.4028del (p.Pro1343fs) rs752037034
NM_001042492.3(NF1):c.2342A>C (p.His781Pro) rs199474763
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs) rs1321848637
NM_001042492.3(NF1):c.3545T>C (p.Val1182Ala) rs2067142076
NM_001042492.3(NF1):c.3579T>A (p.Phe1193Leu)
NM_001042492.3(NF1):c.3721C>T (p.Arg1241Ter) rs137854562
NM_001042492.3(NF1):c.3826C>G (p.Arg1276Gly) rs199474742
NM_001042492.3(NF1):c.4195C>T (p.Gln1399Ter) rs1131691072
NM_001042492.3(NF1):c.6686_6687insT (p.Trp2229fs) rs2151557502
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter) rs876658541
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) rs772295894
NM_001042492.3(NF1):c.731-5T>G rs1597659721
NM_001042492.3(NF1):c.789dup (p.Ala264fs)
NM_001042492.3(NF1):c.8135G>A (p.Trp2712Ter)
NM_001042681.2(RERE):c.4307TCCACC[3] (p.1436LH[3]) rs1064793252
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs) rs751952525
NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu) rs104895271
NM_001077350.3(NPRL3):c.1375_1376dup (p.Ser460fs) rs886037960
NM_001079668.3(NKX2-1):c.613G>T (p.Glu205Ter) rs137852693
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs) rs398123555
NM_001080453.3(INTS1):c.5572C>T (p.Arg1858Ter) rs2128532901
NM_001080467.3(MYO5B):c.4905del (p.Thr1636fs) rs1555793199
NM_001080476.3(GRXCR1):c.550G>T (p.Glu184Ter) rs2109775078
NM_001080477.4(TENM3):c.2279G>A (p.Trp760Ter) rs2152678398
NM_001080510.5(METTL23):c.169_172del (p.His57fs) rs587777644
NM_001080510.5(METTL23):c.322+2dup
NM_001080517.3(SETD5):c.1741_1742del (p.Gln581fs) rs1131691711
NM_001080517.3(SETD5):c.1852C>T (p.Arg618Ter) rs1218918142
NM_001080517.3(SETD5):c.2279C>A (p.Ser760Ter) rs1553626575
NM_001080517.3(SETD5):c.588_591del (p.Gln196fs)
NM_001080517.3(SETD5):c.960-5C>G rs2125193661
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001081.4(CUBN):c.6894_6901dup (p.Leu2301Ter)
NM_001081550.2(THOC2):c.229C>T (p.Arg77Cys) rs1556302160
NM_001082538.3(TCTN1):c.378_381dup (p.Ser128fs)
NM_001082971.2(DDC):c.1339C>T (p.Arg447Cys)
NM_001083961.2(WDR62):c.2984C>G (p.Ser995Ter)
NM_001083961.2(WDR62):c.3863G>A (p.Trp1288Ter)
NM_001083962.2(TCF4):c.1153C>T (p.Arg385Ter) rs121909122
NM_001083962.2(TCF4):c.1356del (p.Thr453fs)
NM_001085049.3(MRAS):c.212A>G (p.Gln71Arg) rs1576387885
NM_001085487.3(MYSM1):c.1516C>T (p.Arg506Ter)
NM_001101.5(ACTB):c.1043C>T (p.Ser348Leu) rs886041309
NM_001101.5(ACTB):c.209C>T (p.Pro70Leu) rs587779769
NM_001101.5(ACTB):c.547C>T (p.Arg183Trp) rs104894003
NM_001101426.4(CRPPA):c.258-2A>G
NM_001101426.4(CRPPA):c.54_55delinsTGC (p.Ser19fs) rs2128321525
NM_001110792.2(MECP2):c.1122dup (p.Lys375fs) rs587783092
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001111125.3(IQSEC2):c.1483C>T (p.Gln495Ter) rs2147103761
NM_001111125.3(IQSEC2):c.1507dup (p.Glu503fs)
NM_001111125.3(IQSEC2):c.3279G>A (p.Ser1093=) rs1602260263
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu) rs606231451
NM_001114753.3(ENG):c.1195del (p.Arg399fs) rs1131691444
NM_001114753.3(ENG):c.1429-1G>A rs2131876244
NM_001114753.3(ENG):c.1465C>T (p.Gln489Ter) rs1057521648
NM_001114753.3(ENG):c.1470dup (p.Asp491fs) rs1830385077
NM_001114753.3(ENG):c.277C>T (p.Arg93Ter) rs886039506
NM_001114753.3(ENG):c.771del (p.Tyr258fs) rs1588581902
NM_001114753.3(ENG):c.774C>A (p.Tyr258Ter) rs537154767
NM_001114753.3(ENG):c.808C>T (p.Gln270Ter) rs1554810215
NM_001114753.3(ENG):c.934del (p.Ala312fs) rs2131886908
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser) rs1060501410
NM_001122764.3(PPOX):c.175C>T (p.Arg59Trp) rs121918324
NM_001123385.2(BCOR):c.3165_3166delinsC (p.Lys1055fs)
NM_001126108.2(SLC12A3):c.1258_1262del (p.Ala420fs) rs2144711571
NM_001126108.2(SLC12A3):c.237_238dup (p.Arg80fs) rs780299444
NM_001126108.2(SLC12A3):c.35dup (p.Asp12fs) rs1964322654
NM_001127178.3(PIGG):c.1193C>G (p.Ser398Ter)
NM_001127178.3(PIGG):c.1956G>A (p.Trp652Ter)
NM_001127222.2(CACNA1A):c.1538G>A (p.Trp513Ter) rs2058143736
NM_001127222.2(CACNA1A):c.4052G>A (p.Arg1351Gln) rs1555745467
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter) rs121909324
NM_001127222.2(CACNA1A):c.5021del (p.Gly1674fs)
NM_001127392.3(MYRF):c.789del (p.Ser264fs) rs769274302
NM_001127898.4(CLCN5):c.1012G>T (p.Glu338Ter) rs1933873534
NM_001127898.4(CLCN5):c.1249C>T (p.Arg417Ter) rs797044810
NM_001127898.4(CLCN5):c.1329dup (p.Asn444fs) rs1933898062
NM_001127898.4(CLCN5):c.1441A>T (p.Lys481Ter) rs1933903437
NM_001127898.4(CLCN5):c.1452del (p.Glu484fs)
NM_001128228.3(TPRN):c.943dup (p.Leu315fs)
NM_001130438.3(SPTAN1):c.2988dup (p.Leu997fs) rs2131267665
NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del) rs587784438
NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys) rs397516607
NM_001134407.3(GRIN2A):c.1007+1G>A rs397518465
NM_001134407.3(GRIN2A):c.1939G>T (p.Ala647Ser) rs2042447850
NM_001134673.4(NFIA):c.248del (p.Ile83fs) rs2100414350
NM_001134831.2(AHI1):c.1420del (p.Ile474fs) rs1369440486
NM_001135629.3(PPP1R21):c.2063del (p.Lys688fs) rs1670430380
NM_001142800.2(EYS):c.4957dup (p.Ser1653fs) rs527236065
NM_001142800.2(EYS):c.9036del (p.Leu3013fs) rs1225304963
NM_001142800.2(EYS):c.9166_9167delinsCCTCCC (p.Ile3056fs)
NM_001143981.2(CHRDL1):c.520dup (p.Ser174fs) rs1057516043
NM_001145358.2(SIN3A):c.1411C>T (p.Arg471Ter)
NM_001159699.2(FHL1):c.613_614del (p.Val205fs) rs1569530588
NM_001160372.4(TRAPPC9):c.175del (p.His59fs)
NM_001163435.3(TBCK):c.1370dup (p.Asn457fs) rs746860249
NM_001163809.2(WDR81):c.3843C>A (p.Tyr1281Ter) rs2151169266
NM_001164277.2(SLC37A4):c.1124+1G>C rs782630676
NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs) rs1447366650
NM_001164508.2(NEB):c.24177_24178del (p.Arg8059fs) rs1266535163
NM_001164508.2(NEB):c.9465del (p.Ile3156fs) rs1553939600
NM_001165963.4(SCN1A):c.1210del (p.Val404fs)
NM_001165963.4(SCN1A):c.302G>A (p.Arg101Gln) rs121917918
NM_001165963.4(SCN1A):c.3837T>G (p.Tyr1279Ter)
NM_001165963.4(SCN1A):c.3985C>T (p.Arg1329Ter) rs796053004
NM_001165963.4(SCN1A):c.4055T>C (p.Leu1352Pro) rs794726821
NM_001165963.4(SCN1A):c.4094G>A (p.Gly1365Asp) rs1691073965
NM_001165963.4(SCN1A):c.5536_5539del (p.Lys1846fs) rs794726726
NM_001165963.4(SCN1A):c.5765T>C (p.Ile1922Thr) rs121917981
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met) rs121917984
NM_001170629.2(CHD8):c.2199_2200del (p.His734fs)
NM_001170629.2(CHD8):c.3308-2A>G rs2139470242
NM_001170629.2(CHD8):c.3790_3796del (p.Glu1264fs) rs2139467241
NM_001170629.2(CHD8):c.5744del (p.Pro1915fs) rs2139447795
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
NM_001172509.2(SATB2):c.1166G>A (p.Arg389His)
NM_001172509.2(SATB2):c.581_584del (p.Glu194fs)
NM_001172509.2(SATB2):c.728C>G (p.Ser243Ter)
NM_001172509.2(SATB2):c.847C>T (p.Arg283Ter) rs797044874
NM_001173464.2(KIF21A):c.2860C>T (p.Arg954Trp) rs121912585
NM_001174147.2(LMX1B):c.949C>T (p.Gln317Ter)
NM_001182.5(ALDH7A1):c.1061A>C (p.Tyr354Ser)
NM_001182.5(ALDH7A1):c.1468del (p.Ala490fs) rs796052267
NM_001184880.2(PCDH19):c.1682C>G (p.Pro561Arg) rs796052819
NM_001184880.2(PCDH19):c.498C>G (p.Tyr166Ter) rs796052837
NM_001184880.2(PCDH19):c.619C>T (p.Arg207Ter) rs796052802
NM_001190274.2(FBXO11):c.588-2A>G rs2104833077
NM_001190737.2(NFIB):c.93_94del (p.Trp31fs)
NM_001195263.2(PDZD7):c.668del (p.Gly223fs)
NM_001195553.2(DCX):c.226C>T (p.Arg76Cys) rs587783534
NM_001195553.2(DCX):c.479_482dup (p.Leu162fs) rs2147263186
NM_001197104.2(KMT2A):c.11073dup (p.Ala3692fs)
NM_001197104.2(KMT2A):c.2429_2430insG (p.Glu811fs)
NM_001197104.2(KMT2A):c.3341C>A (p.Ser1114Ter) rs1555038029
NM_001197104.2(KMT2A):c.5656_5657del (p.Ser1886fs)
NM_001197104.2(KMT2A):c.6445C>T (p.Arg2149Ter) rs781843315
NM_001197104.2(KMT2A):c.7753del (p.Asp2585fs)
NM_001197104.2(KMT2A):c.9195del (p.Ala3066fs)
NM_001242882.2(NAXD):c.54_57del (p.Ala20fs) rs773887880
NM_001242896.3(DEPDC5):c.1264C>T (p.Arg422Ter) rs757511744
NM_001242896.3(DEPDC5):c.1555C>T (p.Gln519Ter) rs886039261
NM_001242896.3(DEPDC5):c.2512C>T (p.Arg838Ter) rs1569067939
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs) rs587779388
NM_001256071.3(RNF213):c.12353C>T (p.Ser4118Phe) rs2079443410
NM_001256789.3(CACNA1F):c.1855del (p.Leu619fs) rs2147916504
NM_001256789.3(CACNA1F):c.2504del (p.Pro835fs) rs2147910175
NM_001257180.2(SLC20A2):c.1438_1439del (p.Ala480fs)
NM_001257180.2(SLC20A2):c.1802C>T (p.Ser601Leu) rs387906652
NM_001271.4(CHD2):c.3937C>G (p.Arg1313Gly)
NM_001273.5(CHD4):c.3529C>T (p.Arg1177Cys) rs2136209186
NM_001273.5(CHD4):c.4018C>T (p.Arg1340Cys)
NM_001276345.2(TNNT2):c.310C>A (p.Arg104Ser)
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) rs74315379
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del) rs45578238
NM_001277115.2(DNAH11):c.3910del (p.Arg1304fs)
NM_001277115.2(DNAH11):c.7999C>T (p.Gln2667Ter)
NM_001278116.2(L1CAM):c.1703+5G>A
NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu) rs137852526
NM_001278293.3(ARL6):c.534A>G (p.Gln178=)
NM_001278716.2(FBXL4):c.486T>A (p.Tyr162Ter) rs1562245046
NM_001282225.2(ADA2):c.140G>T (p.Gly47Val) rs200930463
NM_001282531.3(ADNP):c.2157C>G (p.Tyr719Ter) rs587777526
NM_001282531.3(ADNP):c.2212dup (p.Ser738fs)
NM_001282531.3(ADNP):c.2483dup (p.Met828fs)
NM_001282531.3(ADNP):c.2496_2499del (p.Asn832fs) rs587777523
NM_001282531.3(ADNP):c.2865_2868del (p.Ser955fs) rs1980777288
NM_001282534.2(KCNK9):c.706G>A (p.Gly236Arg) rs121908332
NM_001289104.2(PRKCSH):c.1191dup (p.Ile398fs) rs1970419486
NM_001291415.2(KDM6A):c.1164del (p.Ala389fs)
NM_001291415.2(KDM6A):c.2379dup (p.Ala794fs)
NM_001291415.2(KDM6A):c.514C>T (p.Arg172Ter) rs189751539
NM_001291867.2(NHS):c.2450dup (p.Ser818fs) rs786205255
NM_001292034.3(TAB2):c.1462dup (p.Thr488fs)
NM_001292063.2(OTOG):c.2523T>A (p.Tyr841Ter)
NM_001292063.2(OTOG):c.5472del (p.Ala1826fs) rs1029389440
NM_001303052.2(MYT1L):c.1585G>A (p.Gly529Arg) rs1275489527
NM_001303052.2(MYT1L):c.2221_2230del (p.Thr741fs) rs1253072668
NM_001303256.3(MORC2):c.79G>A (p.Glu27Lys) rs1602510200
NM_001312909.2(FAM111A):c.1706G>A (p.Arg569His) rs587777011
NM_001318852.2(MAPK8IP3):c.1735C>T (p.Arg579Cys) rs1567203083
NM_001318852.2(MAPK8IP3):c.3439C>T (p.Arg1147Cys) rs1567214097
NM_001321075.3(DLG4):c.1512dup (p.Lys505fs)
NM_001321075.3(DLG4):c.410_411del (p.Leu137fs) rs2142885592
NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter) rs267608643
NM_001323289.2(CDKL5):c.456_457del (p.Cys152_Asp153delinsTer)
NM_001323289.2(CDKL5):c.786C>A (p.Tyr262Ter) rs1555951146
NM_001329943.3(KIAA0586):c.790C>T (p.Gln264Ter) rs1057516038
NM_001347721.2(DYRK1A):c.286A>T (p.Lys96Ter)
NM_001347721.2(DYRK1A):c.638-9_638-5del
NM_001348323.3(TRIP12):c.3490dup (p.Ile1164fs) rs2043184881
NM_001348323.3(TRIP12):c.5801C>T (p.Pro1934Leu)
NM_001348716.2(KDM6B):c.496C>T (p.Arg166Ter) rs2078539742
NM_001349338.3(FOXP1):c.1147-1_1161dup
NM_001349338.3(FOXP1):c.1172_1175del (p.Leu391fs) rs2037949810
NM_001349338.3(FOXP1):c.1241del (p.Leu414fs)
NM_001349338.3(FOXP1):c.1540C>T (p.Arg514Cys) rs869025203
NM_001349338.3(FOXP1):c.1573C>T (p.Arg525Ter) rs112795301
NM_001349338.3(FOXP1):c.1652+5G>A rs794727216
NM_001349338.3(FOXP1):c.1653_1669del (p.Asn552fs) rs2107156767
NM_001349338.3(FOXP1):c.482_483dup (p.Gln162fs)
NM_001351132.2(PEX5):c.552G>A (p.Trp184Ter) rs1419213790
NM_001352027.3(PHF21A):c.1032_1035del (p.Thr345fs) rs2092369866
NM_001354604.2(MITF):c.961C>T (p.Arg321Ter) rs104893746
NM_001356.5(DDX3X):c.1600C>T (p.Arg534Cys) rs1555954284
NM_001356.5(DDX3X):c.229_230dup (p.Asp77fs)
NM_001358530.2(MOCS1):c.722del (p.Leu241fs) rs397518418
NM_001360.3(DHCR7):c.1228G>C (p.Gly410Arg) rs80338862
NM_001360.3(DHCR7):c.740C>T (p.Ala247Val) rs886041354
NM_001360.3(DHCR7):c.906C>G (p.Phe302Leu) rs80338858
NM_001360.3(DHCR7):c.911G>A (p.Trp304Ter)
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001365276.2(TNXB):c.3763dup (p.Arg1255fs)
NM_001365902.3(NFIX):c.317C>T (p.Ser106Phe)
NM_001365902.3(NFIX):c.325G>T (p.Asp109Tyr) rs2145192459
NM_001365999.1(SZT2):c.7735C>T (p.Gln2579Ter) rs2153935815
NM_001366385.1(CARD14):c.349+5G>A rs587777763
NM_001367561.1(DOCK7):c.4243C>T (p.Arg1415Ter)
NM_001367561.1(DOCK7):c.453dup (p.Gly152fs)
NM_001367721.1(CASK):c.2039+1G>A rs2147138207
NM_001367721.1(CASK):c.305A>G (p.Glu102Gly) rs1569429756
NM_001367873.1(SOX6):c.970C>T (p.Gln324Ter) rs2133975843
NM_001368067.1(LDB3):c.439G>A (p.Ala147Thr) rs121908333
NM_001368809.2(AMPD2):c.1198C>T (p.Gln400Ter) rs1011286644
NM_001368882.1(COL13A1):c.513del (p.Gly172fs) rs1564932829
NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter) rs886041222
NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter) rs775696136
NM_001369.3(DNAH5):c.3598+2T>C rs981267400
NM_001370259.2(MEN1):c.1087_1089del (p.Glu363del) rs869025185
NM_001370259.2(MEN1):c.402del (p.Phe134fs) rs397515385
NM_001371596.2(MFSD8):c.727C>T (p.Gln243Ter)
NM_001371623.1(TCOF1):c.2722del (p.Arg908fs) rs2150816737
NM_001371623.1(TCOF1):c.304+5G>C
NM_001371623.1(TCOF1):c.3047-1G>A rs2151009927
NM_001371623.1(TCOF1):c.3490C>T (p.Gln1164Ter)
NM_001371986.1(UNC80):c.6976C>T (p.Gln2326Ter) rs2124981606
NM_001372066.1(TFAP2A):c.481del (p.Val161fs)
NM_001374828.1(ARID1B):c.1560C>G (p.Tyr520Ter) rs2114999746
NM_001374828.1(ARID1B):c.2458C>T (p.Arg820Ter) rs797045272
NM_001374828.1(ARID1B):c.3532del (p.Glu1178fs)
NM_001374828.1(ARID1B):c.3946C>T (p.Gln1316Ter) rs1554232925
NM_001374828.1(ARID1B):c.3955dup (p.Gln1319fs) rs1289067120
NM_001374828.1(ARID1B):c.4147_4149delinsAG (p.Tyr1383fs) rs1554233122
NM_001374828.1(ARID1B):c.4395del (p.Pro1464_Tyr1465insTer)
NM_001374828.1(ARID1B):c.4488del (p.Lys1496fs)
NM_001374828.1(ARID1B):c.4522A>T (p.Lys1508Ter) rs1554235505
NM_001374828.1(ARID1B):c.4911dup (p.His1638fs)
NM_001374828.1(ARID1B):c.5939_5942del (p.Lys1980fs) rs886041706
NM_001375380.1(EBF3):c.705CAA[1] (p.Asn237del) rs2134108087
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_001376571.1(MADD):c.4109T>A (p.Leu1370Ter) rs2140853464
NM_001378418.1(TCF20):c.2318_2319del (p.Gln773fs) rs2147212231
NM_001378418.1(TCF20):c.2380C>T (p.Gln794Ter)
NM_001378454.1(ALMS1):c.2912_2915del (p.Asp971fs) rs1671880172
NM_001378615.1(CC2D2A):c.2164G>T (p.Glu722Ter)
NM_001378615.1(CC2D2A):c.2710G>T (p.Glu904Ter)
NM_001378615.1(CC2D2A):c.4256del (p.Gly1419fs) rs772110399
NM_001378615.1(CC2D2A):c.4465_4468del (p.Asp1489fs) rs797045437
NM_001384732.1(CPLANE1):c.7378C>T (p.Gln2460Ter)
NM_001385012.1(NBEA):c.3806del (p.Asp1269fs)
NM_001386298.1(CIC):c.6074dup (p.Ser2026fs)
NM_001393500.2(TOMT):c.100C>T (p.Arg34Ter)
NM_001395891.1(CLASP1):c.196-609C>T rs575472572
NM_001429.4(EP300):c.2333dup (p.Asn779fs) rs2145736063
NM_001430.5(EPAS1):c.1604T>C (p.Met535Thr) rs2103672173
NM_001430.5(EPAS1):c.1609G>A (p.Gly537Arg) rs137853036
NM_001451.3(FOXF1):c.21del (p.Lys7fs)
NM_001453.3(FOXC1):c.718_719del (p.Leu240fs) rs1057519480
NM_001458.5(FLNC):c.1444C>T (p.Arg482Ter) rs1420159591
NM_001458.5(FLNC):c.4108C>T (p.Arg1370Ter) rs1342121466
NM_001466.4(FZD2):c.1644G>A (p.Trp548Ter) rs1568105666
NM_001540.5(HSPB1):c.544C>T (p.Pro182Ser) rs104894020
NM_001613.4(ACTA2):c.353G>A (p.Arg118Gln) rs112602953
NM_001613.4(ACTA2):c.535C>T (p.Arg179Cys) rs886039303
NM_001613.4(ACTA2):c.536G>A (p.Arg179His) rs387906592
NM_001615.4(ACTG2):c.613G>A (p.Ala205Thr) rs1057516046
NM_001615.4(ACTG2):c.632G>T (p.Arg211Leu)
NM_001625.4(AK2):c.84dup (p.Gly29fs) rs1640610158
NM_001673.5(ASNS):c.1476+1G>A rs1791258447
NM_001692.4(ATP6V1B1):c.1356del (p.Phe452fs) rs782549406
NM_001692.4(ATP6V1B1):c.183del (p.Gln61fs) rs1680484812
NM_001692.4(ATP6V1B1):c.343_349del (p.Thr115fs)
NM_001693.4(ATP6V1B2):c.1516C>T (p.Arg506Ter) rs794729667
NM_001759.4(CCND2):c.808A>T (p.Lys270Ter) rs587777619
NM_001844.5(COL2A1):c.1105G>C (p.Gly369Arg) rs1085307657
NM_001844.5(COL2A1):c.1258G>T (p.Gly420Ter)
NM_001844.5(COL2A1):c.1396G>T (p.Glu466Ter)
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys) rs121912884
NM_001844.5(COL2A1):c.192C>A (p.Cys64Ter) rs121912897
NM_001844.5(COL2A1):c.2275G>C (p.Gly759Arg) rs2136548994
NM_001844.5(COL2A1):c.2833G>A (p.Gly945Ser) rs886039542
NM_001844.5(COL2A1):c.2920del (p.Gln974fs)
NM_001844.5(COL2A1):c.2941G>A (p.Gly981Ser) rs2136526515
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) rs121912870
NM_001844.5(COL2A1):c.3617G>C (p.Gly1206Ala)
NM_001844.5(COL2A1):c.512del (p.Gly171fs)
NM_001844.5(COL2A1):c.565G>T (p.Glu189Ter)
NM_001844.5(COL2A1):c.569del (p.Lys190fs) rs2136622208
NM_001844.5(COL2A1):c.655G>A (p.Gly219Arg) rs1131691822
NM_001844.5(COL2A1):c.925-1G>A
NM_001845.6(COL4A1):c.2626G>C (p.Gly876Arg)
NM_001845.6(COL4A1):c.3742+1G>A rs2139156007
NM_001875.5(CPS1):c.2161C>T (p.Arg721Ter) rs202107577
NM_001904.4(CTNNB1):c.1350dup (p.Val451fs) rs2125639718
NM_001904.4(CTNNB1):c.1961_1962del (p.Tyr654fs)
NM_001904.4(CTNNB1):c.1981C>T (p.Arg661Ter) rs748294403
NM_001904.4(CTNNB1):c.242-3C>A
NM_001943.5(DSG2):c.871dup (p.Thr291fs) rs759944835
NM_001958.5(EEF1A2):c.1295C>T (p.Thr432Met) rs2082362479
NM_001983.4(ERCC1):c.321+61_525+132del
NM_002016.2(FLG):c.2929C>T (p.Gln977Ter) rs144419479
NM_002016.2(FLG):c.2976_2977del (p.Arg992fs) rs776968118
NM_002049.4(GATA1):c.470_471del (p.Pro157fs)
NM_002055.5(GFAP):c.1246C>T (p.Arg416Trp) rs121909717
NM_002055.5(GFAP):c.715C>T (p.Arg239Cys) rs58064122
NM_002055.5(GFAP):c.772C>T (p.Arg258Cys) rs797044578
NM_002055.5(GFAP):c.791T>C (p.Leu264Pro) rs797044579
NM_002074.5(GNB1):c.228T>A (p.Asp76Glu) rs869312822
NM_002074.5(GNB1):c.230G>A (p.Gly77Asp) rs1135401746
NM_002074.5(GNB1):c.388G>A (p.Glu130Lys) rs1553194155
NM_002292.4(LAMB2):c.2494C>T (p.Gln832Ter)
NM_002294.3(LAMP2):c.584_585insGC (p.Thr196fs)
NM_002336.3(LRP6):c.3332dup (p.Ser1111fs)
NM_002340.6(LSS):c.647G>A (p.Trp216Ter) rs745734847
NM_002351.5(SH2D1A):c.251T>C (p.Ile84Thr)
NM_002397.5(MEF2C):c.908del (p.Leu303fs)
NM_002397.5(MEF2C):c.939_940del (p.Ala314fs)
NM_002430.3(MN1):c.3883C>T (p.Arg1295Ter) rs147334255
NM_002473.6(MYH9):c.2114G>A (p.Arg705His) rs80338828
NM_002473.6(MYH9):c.287C>T (p.Ser96Leu) rs121913657
NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys) rs80338829
NM_002473.6(MYH9):c.5797C>T (p.Arg1933Ter) rs80338835
NM_002491.3(NDUFB3):c.117del (p.Gly40_Leu41insTer) rs2125534778
NM_002524.5(NRAS):c.175G>A (p.Ala59Thr) rs730880965
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_002576.5(PAK1):c.391T>A (p.Tyr131Asn) rs2137081759
NM_002609.4(PDGFRB):c.1696T>C (p.Trp566Arg) rs1060499542
NM_002617.4(PEX10):c.637dup (p.Ala213fs)
NM_002667.5(PLN):c.37AGA[1] (p.Arg14del) rs397516784
NM_002693.3(POLG):c.3538_3539dup (p.Ala1182fs)
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_002709.3(PPP1CB):c.658C>T (p.Arg220Cys) rs1553311527
NM_002715.4(PPP2CA):c.379del (p.Tyr127fs)
NM_002734.5(PRKAR1A):c.1102C>T (p.Arg368Ter) rs387906692
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002830.4(PTPN4):c.2338C>T (p.Gln780Ter) rs2105059931
NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr) rs121918468
NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu) rs397507540
NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu) rs397507542
NM_002834.5(PTPN11):c.1505C>T (p.Ser502Leu) rs397507544
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) rs397507549
NM_002834.5(PTPN11):c.1529A>G (p.Gln510Arg) rs121918470
NM_002834.5(PTPN11):c.172A>C (p.Asn58His) rs397507505
NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala) rs397507509
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002880.4(RAF1):c.781C>T (p.Pro261Ser) rs121434594
NM_002890.3(RASA1):c.2474dup (p.Gln826fs)
NM_002890.3(RASA1):c.2655G>A (p.Trp885Ter) rs2112500793
NM_002890.3(RASA1):c.613_617del (p.Leu205fs) rs1060503441
NM_002890.3(RASA1):c.853C>T (p.Arg285Ter) rs137853218
NM_003042.4(SLC6A1):c.1607del (p.Val536fs)
NM_003042.4(SLC6A1):c.235G>A (p.Gly79Arg) rs1085307804
NM_003042.4(SLC6A1):c.919G>A (p.Gly307Arg) rs1553689696
NM_003070.5(SMARCA2):c.2838A>C (p.Leu946Phe)
NM_003070.5(SMARCA2):c.3292G>A (p.Gly1098Ser)
NM_003070.5(SMARCA2):c.3313C>T (p.Arg1105Cys) rs281875192
NM_003070.5(SMARCA2):c.3484C>T (p.Arg1162Cys) rs1057518414
NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln)
NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del) rs875989800
NM_003091.4(SNRPB):c.155+301G>C rs786201019
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_003128.3(SPTBN1):c.4718dup (p.Trp1574fs) rs2104068395
NM_003172.4(SURF1):c.574_575insCTGC (p.Arg192fs) rs782289759
NM_003238.6(TGFB2):c.127C>T (p.Gln43Ter)
NM_003238.6(TGFB2):c.896G>A (p.Arg299Gln) rs1057521150
NM_003238.6(TGFB2):c.933-1G>A
NM_003282.4(TNNI2):c.525G>T (p.Lys175Asn) rs797046046
NM_003334.4(UBA1):c.122T>C (p.Met41Thr) rs782416867
NM_003361.4(UMOD):c.278_289delinsCCGCCTCCT (p.Val93_Gly97delinsAlaAlaSerCys) rs878855325
NM_003470.3(USP7):c.701dup (p.Thr235fs)
NM_003482.4(KMT2D):c.10198C>T (p.Gln3400Ter)
NM_003482.4(KMT2D):c.11119C>T (p.Arg3707Ter)
NM_003482.4(KMT2D):c.12268C>T (p.Gln4090Ter) rs1555188155
NM_003482.4(KMT2D):c.1248del (p.Lys417fs)
NM_003482.4(KMT2D):c.14059C>T (p.Gln4687Ter)
NM_003482.4(KMT2D):c.14075+1G>A rs1057516039
NM_003482.4(KMT2D):c.14710C>T (p.Arg4904Ter) rs398123721
NM_003482.4(KMT2D):c.15079C>T (p.Arg5027Ter) rs797045659
NM_003482.4(KMT2D):c.16052G>A (p.Arg5351Gln) rs1555185217
NM_003482.4(KMT2D):c.3190del (p.Val1064fs)
NM_003482.4(KMT2D):c.4168dup (p.Ala1390fs) rs756471180
NM_003482.4(KMT2D):c.437C>A (p.Ser146Ter)
NM_003482.4(KMT2D):c.7997_8003dup (p.Met2669fs)
NM_003542.4(H4C3):c.274A>G (p.Lys92Glu) rs1763200003
NM_003590.5(CUL3):c.578T>G (p.Leu193Ter) rs2106220962
NM_003590.5(CUL3):c.652C>T (p.Gln218Ter)
NM_003611.3(OFD1):c.710dup (p.Tyr238fs) rs312262845
NM_003620.4(PPM1D):c.1221T>A (p.Cys407Ter) rs189669693
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser) rs878853160
NM_003742.4(ABCB11):c.1243C>T (p.Arg415Ter) rs913644236
NM_003797.5(EED):c.581A>G (p.Asn194Ser) rs1945710855
NM_003801.4(GPAA1):c.1465C>T (p.Gln489Ter)
NM_003859.3(DPM1):c.331_343del (p.Gly111fs) rs1272097668
NM_003906.5(MCM3AP):c.584del (p.Pro195fs)
NM_003907.3(EIF2B5):c.1264C>T (p.Arg422Ter)
NM_003907.3(EIF2B5):c.806G>A (p.Arg269Gln) rs113994057
NM_003924.4(PHOX2B):c.765_779dup (p.Ala256_Ala260dup) rs761018157
NM_003931.3(WASF1):c.1516C>T (p.Arg506Ter) rs1562159562
NM_003978.5(PSTPIP1):c.748G>A (p.Glu250Lys) rs28939089
NM_003998.4(NFKB1):c.904dup (p.Ser302fs) rs773694113
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004006.3(DMD):c.1653G>A (p.Trp551Ter) rs1060502629
NM_004006.3(DMD):c.1708del (p.Leu570fs) rs2149137188
NM_004006.3(DMD):c.4980G>A (p.Trp1660Ter) rs1603631752
NM_004006.3(DMD):c.650-39498A>G rs1556980528
NM_004006.3(DMD):c.8627dup (p.Pro2877fs)
NM_004006.3(DMD):c.9568C>T (p.Arg3190Ter) rs104894797
NM_004092.4(ECHS1):c.601C>T (p.Gln201Ter)
NM_004187.5(KDM5C):c.2813_2816dup (p.Pro940fs)
NM_004218.4(RAB11B):c.64G>A (p.Val22Met) rs1555690779
NM_004239.4(TRIP11):c.5269C>T (p.Arg1757Ter)
NM_004247.4(EFTUD2):c.509_519del (p.Ile170fs)
NM_004260.4(RECQL4):c.1699C>T (p.Gln567Ter) rs770709355
NM_004333.6(BRAF):c.1501G>A (p.Glu501Lys) rs180177038
NM_004380.3(CREBBP):c.4251C>G (p.Tyr1417Ter)
NM_004380.3(CREBBP):c.5683C>T (p.Gln1895Ter)
NM_004380.3(CREBBP):c.6005_6006del (p.Val2002fs)
NM_004387.4(NKX2-5):c.487del (p.Leu163fs)
NM_004415.4(DSP):c.8077_8080del (p.Lys2693fs) rs879254352
NM_004444.5(EPHB4):c.1788T>A (p.Tyr596Ter)
NM_004444.5(EPHB4):c.216G>A (p.Trp72Ter)
NM_004444.5(EPHB4):c.2287C>T (p.Arg763Ter) rs1331371272
NM_004444.5(EPHB4):c.2484+1G>A rs927772349
NM_004453.4(ETFDH):c.1652C>A (p.Ser551Ter)
NM_004456.5(EZH2):c.2185T>C (p.Phe729Leu) rs2129467486
NM_004463.3(FGD1):c.527del (p.Pro176fs) rs756586058
NM_004465.2(FGF10):c.190G>T (p.Gly64Ter) rs1446723373
NM_004491.5(ARHGAP35):c.2814dup (p.Lys939Ter)
NM_004493.3(HSD17B10):c.388C>T (p.Arg130Cys) rs28935475
NM_004523.4(KIF11):c.253_260delinsTTGTTCA (p.Val85fs)
NM_004523.4(KIF11):c.2771-1G>C rs2135925601
NM_004586.3(RPS6KA3):c.889_890del (p.Leu298fs)
NM_004612.4(TGFBR1):c.469C>T (p.Arg157Ter) rs1060502040
NM_004614.5(TK2):c.129_132del (p.Lys43fs) rs281865500
NM_004614.5(TK2):c.372_373delinsCT (p.Gln125Ter) rs886039669
NM_004646.4(NPHS1):c.2404C>T (p.Arg802Trp) rs386833911
NM_004646.4(NPHS1):c.542_543del (p.Ile180_Ser181insTer)
NM_004722.4(AP4M1):c.1012del (p.Arg338fs) rs2116668499
NM_004815.4(ARHGAP29):c.62_63del (p.Ser21fs)
NM_004817.4(TJP2):c.3325G>T (p.Glu1109Ter) rs1225374015
NM_004924.6(ACTN4):c.584G>T (p.Gly195Val)
NM_004958.4(MTOR):c.5930C>A (p.Thr1977Lys) rs587777893
NM_004959.5(NR5A1):c.164del (p.Cys55fs)
NM_004959.5(NR5A1):c.983G>T (p.Gly328Val) rs2131279852
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met) rs1555889162
NM_004975.4(KCNB1):c.877C>T (p.Arg293Cys) rs1984264748
NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys) rs1555889130
NM_004977.3(KCNC3):c.1268G>A (p.Arg423His) rs797044872
NM_004985.5(KRAS):c.13A>G (p.Lys5Glu) rs193929331
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_005068.3(SIM1):c.616del (p.Gln206fs) rs2114540946
NM_005120.3(MED12):c.514G>C (p.Glu172Gln) rs2147774632
NM_005121.3(MED13):c.712C>T (p.Gln238Ter) rs2143687619
NM_005184.4(CALM3):c.421G>A (p.Glu141Lys) rs1599759598
NM_005188.4(CBL):c.1096-2A>T rs1592400784
NM_005249.5(FOXG1):c.1007dup (p.Ser336fs)
NM_005251.3(FOXC2):c.362G>A (p.Arg121His) rs121909107
NM_005257.6(GATA6):c.1108_1121dup (p.Gly375fs)
NM_005267.5(GJA8):c.134G>T (p.Trp45Leu) rs864309688
NM_005343.4(HRAS):c.173C>T (p.Thr58Ile) rs121917758
NM_005343.4(HRAS):c.187G>A (p.Glu63Lys) rs121917756
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp) rs104894230
NM_005359.6(SMAD4):c.1081C>G (p.Arg361Gly) rs80338963
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005378.6(MYCN):c.134dup (p.Glu47fs) rs780080562
NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp) rs587776935
NM_005475.3(SH2B3):c.1228del (p.Gly409_Ile410insTer)
NM_005515.4(MNX1):c.488_494dup (p.Tyr166fs) rs2134846330
NM_005515.4(MNX1):c.863G>A (p.Trp288Ter) rs2134838783
NM_005559.4(LAMA1):c.6333dup (p.Gln2112fs)
NM_005562.3(LAMC2):c.283C>T (p.Arg95Ter) rs80356683
NM_005609.4(PYGM):c.373del (p.Glu125fs) rs2135840482
NM_005633.4(SOS1):c.1649T>C (p.Leu550Pro) rs397517153
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys) rs397517154
NM_005633.4(SOS1):c.925G>T (p.Asp309Tyr) rs397517180
NM_005654.6(NR2F1):c.2T>C (p.Met1Thr) rs886041216
NM_005654.6(NR2F1):c.307T>C (p.Cys103Arg)
NM_005654.6(NR2F1):c.827T>A (p.Leu276Ter) rs2149943098
NM_005676.5(RBM10):c.1993_1996del (p.Gln665fs)
NM_005676.5(RBM10):c.373G>T (p.Glu125Ter) rs2147136759
NM_005859.5(PURA):c.217T>G (p.Phe73Val)
NM_005859.5(PURA):c.228del (p.Asp76fs)
NM_005859.5(PURA):c.362dup (p.Tyr121Ter) rs2126748969
NM_005859.5(PURA):c.426_427dup (p.Leu143fs) rs2126749067
NM_005859.5(PURA):c.531del (p.Pro178fs) rs2126749210
NM_005859.5(PURA):c.572C>T (p.Pro191Leu) rs1064795165
NM_005859.5(PURA):c.62del (p.Leu21fs)
NM_005859.5(PURA):c.74del (p.Gly25fs) rs2126748581
NM_005901.6(SMAD2):c.748_754del (p.Ser250fs)
NM_005902.4(SMAD3):c.1268G>A (p.Ser423Asn) rs1555414503
NM_005957.5(MTHFR):c.1166+5G>C rs1483632178
NM_005957.5(MTHFR):c.1228_1242del (p.Ser410_Lys414del) rs1297161027
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His) rs587784491
NM_006009.4(TUBA1A):c.791G>A (p.Arg264His) rs886043627
NM_006009.4(TUBA1A):c.958C>T (p.Arg320Cys) rs1942168488
NM_006015.6(ARID1A):c.3058A>T (p.Arg1020Trp) rs2124086560
NM_006030.4(CACNA2D2):c.1126G>T (p.Glu376Ter)
NM_006031.6(PCNT):c.8695C>T (p.Gln2899Ter)
NM_006086.4(TUBB3):c.1138C>T (p.Arg380Cys) rs864321717
NM_006086.4(TUBB3):c.533C>T (p.Thr178Met) rs747480526
NM_006086.4(TUBB3):c.784C>T (p.Arg262Cys) rs267607162
NM_006121.4(KRT1):c.1433A>G (p.Glu478Gly) rs2121000699
NM_006218.4(PIK3CA):c.1132T>C (p.Cys378Arg) rs1724507777
NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys) rs1057519925
NM_006218.4(PIK3CA):c.263G>A (p.Arg88Gln) rs121913287
NM_006231.4(POLE):c.6571C>T (p.Gln2191Ter)
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006245.4(PPP2R5D):c.619T>C (p.Trp207Arg) rs869320691
NM_006245.4(PPP2R5D):c.751G>T (p.Asp251Tyr) rs1762178916
NM_006265.3(RAD21):c.1635del (p.Gly547fs)
NM_006306.4(SMC1A):c.511C>T (p.Arg171Ter)
NM_006363.6(SEC23B):c.640C>T (p.Gln214Ter)
NM_006371.5(CRTAP):c.153_175dup (p.His59fs)
NM_006516.4(SLC2A1):c.505_507del (p.Leu169del) rs80359832
NM_006516.4(SLC2A1):c.884C>T (p.Thr295Met) rs80359823
NM_006565.4(CTCF):c.615_618del (p.Lys206fs) rs1555534147
NM_006565.4(CTCF):c.677A>G (p.Tyr226Cys) rs2142826609
NM_006565.4(CTCF):c.778_781del (p.Lys260fs) rs2052063931
NM_006579.3(EBP):c.338+1G>C rs1569479885
NM_006593.4(TBR1):c.381del (p.Gly128fs) rs2105278359
NM_006618.5(KDM5B):c.2117del (p.Cys706fs)
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter) rs199469465
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter) rs199469464
NM_006663.4(PPP1R13L):c.1068dup (p.Ser357fs) rs2123382133
NM_006766.5(KAT6A):c.1133C>G (p.Ser378Ter) rs2150886525
NM_006766.5(KAT6A):c.3034C>T (p.Arg1012Ter) rs768856558
NM_006766.5(KAT6A):c.3377del (p.Ser1126fs)
NM_006766.5(KAT6A):c.3385C>T (p.Arg1129Ter) rs786200960
NM_006766.5(KAT6A):c.3399_3400dup (p.Lys1134fs)
NM_006766.5(KAT6A):c.3631_3632del (p.Thr1210_Val1211insTer)
NM_006766.5(KAT6A):c.3661G>T (p.Glu1221Ter) rs139494583
NM_006766.5(KAT6A):c.3820G>T (p.Glu1274Ter)
NM_006766.5(KAT6A):c.4254_4257del (p.Glu1419fs) rs1057516049
NM_006772.3(SYNGAP1):c.123del (p.Pro42fs)
NM_006772.3(SYNGAP1):c.85_86del (p.Met29fs)
NM_006772.3(SYNGAP1):c.99del (p.Gln33fs) rs2151129654
NM_006846.4(SPINK5):c.2264dup (p.Asn755fs) rs748978134
NM_006852.6(TLK2):c.1121+1G>A rs2146617330
NM_006852.6(TLK2):c.1366A>T (p.Lys456Ter) rs2146767502
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
NM_006912.6(RIT1):c.270G>A (p.Met90Ile) rs483352822
NM_006912.6(RIT1):c.270G>C (p.Met90Ile) rs483352822
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) rs672601335
NM_006912.6(RIT1):c.69A>C (p.Lys23Asn) rs1557962794
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr) rs1057518801
NM_006929.5(SKIC2):c.510_511insAGCTGAACACACGG (p.Glu171delinsSerTer)
NM_007059.4(KPTN):c.714_731dup (p.Met241_Gln246dup) rs587777148
NM_007118.4(TRIO):c.7050dup (p.Val2351fs) rs746654944
NM_007198.4(PLPBP):c.207+1G>T
NM_007198.4(PLPBP):c.387del (p.Trp130fs)
NM_007214.5(SEC63):c.1094dup (p.Asn365fs)
NM_007214.5(SEC63):c.733+1G>A rs886041028
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs) rs587784365
NM_007254.4(PNKP):c.1286_1287insTAAGC (p.Ser430fs)
NM_007294.4(BRCA1):c.2866_2870del (p.Ser956fs) rs80357819
NM_007315.4(STAT1):c.88del (p.Ile30fs) rs886043118
NM_007317.3(KIF22):c.446G>A (p.Arg149Gln) rs193922922
NM_007363.5(NONO):c.298_307del (p.Ala100fs)
NM_012062.5(DNM1L):c.1207C>T (p.Arg403Cys) rs863223953
NM_012064.4(MIP):c.616_632del (p.Val206fs)
NM_012193.4(FZD4):c.173A>G (p.Tyr58Cys)
NM_012193.4(FZD4):c.244_245delinsG (p.Phe82fs)
NM_012203.2(GRHPR):c.103del (p.Asp35fs) rs80356708
NM_012213.3(MLYCD):c.175A>T (p.Lys59Ter)
NM_012250.6(RRAS2):c.68G>A (p.Gly23Asp) rs1591495779
NM_012309.5(SHANK2):c.4635_4636delinsTAT (p.Val1546fs)
NM_012309.5(SHANK2):c.601dup (p.Leu201fs) rs1555094999
NM_012330.4(KAT6B):c.3172C>T (p.Arg1058Ter) rs1554843815
NM_012330.4(KAT6B):c.3217G>T (p.Glu1073Ter) rs761860621
NM_012330.4(KAT6B):c.3664+1G>A rs1057516033
NM_012330.4(KAT6B):c.5302C>T (p.Gln1768Ter)
NM_012330.4(KAT6B):c.5356G>T (p.Glu1786Ter)
NM_012479.4(YWHAG):c.395G>A (p.Arg132His) rs1583981615
NM_013254.4(TBK1):c.1856G>A (p.Trp619Ter)
NM_013275.6(ANKRD11):c.2398_2401del (p.Glu800fs) rs797045027
NM_013275.6(ANKRD11):c.3632_3633del (p.Lys1211fs) rs1555528400
NM_013275.6(ANKRD11):c.3812C>A (p.Ser1271Ter)
NM_013275.6(ANKRD11):c.4742_4743insAT (p.Phe1583fs)
NM_013275.6(ANKRD11):c.5651C>G (p.Ser1884Ter) rs1555526636
NM_013275.6(ANKRD11):c.6624_6625del (p.Glu2210fs) rs1555525517
NM_013275.6(ANKRD11):c.7290C>G (p.Tyr2430Ter)
NM_013275.6(ANKRD11):c.7481C>G (p.Pro2494Arg) rs2151703550
NM_013296.5(GPSM2):c.742del (p.Gly249fs) rs528069912
NM_013432.5(TONSL):c.3549del (p.Ser1183fs)
NM_014049.5(ACAD9):c.1185_1188del (p.Ser395fs)
NM_014049.5(ACAD9):c.1429C>T (p.Arg477Ter) rs866688232
NM_014049.5(ACAD9):c.1636G>A (p.Val546Met)
NM_014112.5(TRPS1):c.2726G>A (p.Cys909Tyr) rs2129769241
NM_014112.5(TRPS1):c.2927_2931del (p.Leu976fs) rs2129751330
NM_014112.5(TRPS1):c.769C>T (p.Arg257Ter) rs2130531352
NM_014140.4(SMARCAL1):c.250dup (p.Gln84fs) rs1693554666
NM_014141.6(CNTNAP2):c.2569del (p.Ser857fs)
NM_014141.6(CNTNAP2):c.648dup (p.Lys217Ter) rs2129279547
NM_014159.7(SETD2):c.6844_6845del (p.Val2282fs)
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_014251.3(SLC25A13):c.674C>A (p.Ser225Ter) rs80338719
NM_014297.5(ETHE1):c.131_132del (p.Glu44fs) rs761827730
NM_014319.5(LEMD3):c.906del (p.Gly303fs) rs2136313188
NM_014363.6(SACS):c.11265_11266del (p.Ile3755fs) rs1400601705
NM_014363.6(SACS):c.12673_12677del (p.Tyr4225fs)
NM_014363.6(SACS):c.470_471del (p.Tyr157fs) rs1444216187
NM_014365.3(HSPB8):c.508del (p.Gln170fs)
NM_014425.5(INVS):c.2719C>T (p.Arg907Ter) rs267607185
NM_014491.4(FOXP2):c.1432C>T (p.Arg478Ter) rs1474090446
NM_014491.4(FOXP2):c.982C>T (p.Arg328Ter) rs121908378
NM_014516.4(CNOT3):c.1865G>A (p.Trp622Ter)
NM_014712.3(SETD1A):c.1256_1259dup (p.Thr421fs) rs2143491920
NM_014927.5(CNKSR2):c.2024_2027del (p.Glu675fs)
NM_014946.4(SPAST):c.1196C>T (p.Ser399Leu) rs1553317025
NM_014946.4(SPAST):c.1245+5G>A rs1553317049
NM_014946.4(SPAST):c.1291C>T (p.Arg431Ter) rs786204126
NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys) rs878854990
NM_014946.4(SPAST):c.1413+1G>A rs1553318276
NM_014946.4(SPAST):c.1413+3_1413+6del rs570685843
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_014946.4(SPAST):c.1550T>G (p.Leu517Trp)
NM_014946.4(SPAST):c.1691del (p.Leu564fs) rs2148762771
NM_014946.4(SPAST):c.1714_1715del (p.Met572fs) rs2148762813
NM_014946.4(SPAST):c.870+1G>T rs1553314978
NM_014967.5(FAN1):c.2120G>A (p.Trp707Ter) rs953653119
NM_014975.3(MAST1):c.1568T>C (p.Leu523Pro) rs2145907069
NM_014991.6(WDFY3):c.3579G>A (p.Trp1193Ter)
NM_015001.3(SPEN):c.922C>T (p.Arg308Ter)
NM_015021.3(ZNF292):c.3432_3436del (p.Asn1144fs)
NM_015021.3(ZNF292):c.4450C>T (p.Gln1484Ter)
NM_015021.3(ZNF292):c.6266_6269del (p.Lys2089fs) rs2127872112
NM_015047.3(EMC1):c.661C>T (p.Gln221Ter)
NM_015065.3(EXPH5):c.5422C>T (p.Arg1808Ter)
NM_015102.5(NPHP4):c.834_841del (p.Ala279fs) rs781558715
NM_015178.3(RHOBTB2):c.1382G>A (p.Arg461His) rs1554504663
NM_015335.5(MED13L):c.1994_1997del (p.Glu665fs) rs1555247800
NM_015335.5(MED13L):c.278del (p.Asn93fs)
NM_015335.5(MED13L):c.3205C>T (p.Gln1069Ter) rs2137307819
NM_015335.5(MED13L):c.3383_3384del (p.Asn1127_Phe1128insTer)
NM_015335.5(MED13L):c.4087del (p.His1363fs)
NM_015335.5(MED13L):c.4539_4542del (p.Pro1512_Tyr1513insTer)
NM_015335.5(MED13L):c.5278C>T (p.Arg1760Ter) rs886041448
NM_015335.5(MED13L):c.5364+1dup rs1877270718
NM_015335.5(MED13L):c.6017_6035del (p.Gln2006fs)
NM_015335.5(MED13L):c.6039del (p.Asn2014fs)
NM_015338.6(ASXL1):c.1867C>T (p.Gln623Ter) rs111316898
NM_015346.4(ZFYVE26):c.2254C>T (p.Gln752Ter) rs1057518016
NM_015346.4(ZFYVE26):c.517del (p.Glu173fs)
NM_015443.4(KANSL1):c.2938_2939del (p.Leu980fs) rs1568366050
NM_015443.4(KANSL1):c.779del (p.Gly260fs) rs748018297
NM_015488.5(PNKD):c.20C>T (p.Ala7Val) rs121434512
NM_015559.3(SETBP1):c.2087dup (p.Glu697fs)
NM_015559.3(SETBP1):c.2572G>A (p.Glu858Lys) rs1178702025
NM_015559.3(SETBP1):c.2602G>C (p.Asp868His) rs267607042
NM_015559.3(SETBP1):c.623del (p.Pro208fs)
NM_015570.4(AUTS2):c.1135C>T (p.Gln379Ter)
NM_015629.4(PRPF31):c.946-2A>G rs2073961843
NM_015909.4(NBAS):c.2802G>A (p.Trp934Ter) rs1572813576
NM_015909.4(NBAS):c.6840G>A (p.Thr2280=) rs776597537
NM_015981.4(CAMK2A):c.635C>T (p.Pro212Leu) rs926027867
NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter) rs113993991
NM_016203.4(PRKAG2):c.1592G>A (p.Arg531Gln) rs121908991
NM_016239.4(MYO15A):c.1137del (p.Tyr380fs) rs769260536
NM_016239.4(MYO15A):c.1185dup (p.Glu396fs) rs772536599
NM_016239.4(MYO15A):c.7124_7127del (p.Asp2375fs) rs780170125
NM_016306.6(DNAJB11):c.151C>T (p.Gln51Ter)
NM_016373.4(WWOX):c.606-1778_792-2744del
NM_016373.4(WWOX):c.982_998del (p.Tyr328fs)
NM_016628.5(WAC):c.1631dup (p.Gln545fs) rs2132862551
NM_016648.4(LARP7):c.290C>A (p.Ser97Ter)
NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr) rs146664036
NM_017780.4(CHD7):c.2815G>T (p.Glu939Ter) rs587783434
NM_017780.4(CHD7):c.2990del (p.Leu997fs) rs1554597677
NM_017780.4(CHD7):c.4393C>T (p.Arg1465Ter) rs886040991
NM_017780.4(CHD7):c.5405-17G>A rs794727423
NM_017780.4(CHD7):c.604C>T (p.Gln202Ter) rs1554581277
NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter) rs886040995
NM_017780.4(CHD7):c.7711_7718del (p.Val2571fs)
NM_017799.4(TMEM260):c.1783_1795dup (p.Phe599Ter)
NM_017934.7(PHIP):c.704_705del (p.Asn234_Tyr235insTer) rs2127748476
NM_017951.5(SMPD4):c.-43del
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018075.5(ANO10):c.96del (p.Glu33fs) rs758937084
NM_018136.5(ASPM):c.1726_1727del (p.Lys576fs) rs1057518268
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs) rs199422173
NM_018136.5(ASPM):c.8191G>T (p.Glu2731Ter) rs2125093662
NM_018136.5(ASPM):c.8506_8507del (p.Gln2836fs) rs587783280
NM_018238.4(AGK):c.424-3C>G rs766413410
NM_018418.5(SPATA7):c.1126_1127del (p.Thr375_Asp376insTer) rs1227147156
NM_018486.3(HDAC8):c.134_137del (p.Ile45fs) rs797045610
NM_018684.4(ZC4H2):c.592C>T (p.Arg198Trp) rs137962226
NM_018896.5(CACNA1G):c.4591A>G (p.Met1531Val) rs1555558553
NM_019032.6(ADAMTSL4):c.767_786del (p.Gln256fs) rs199473693
NM_019098.5(CNGB3):c.1493del (p.Leu498fs) rs773381712
NM_019098.5(CNGB3):c.595del (p.Glu199fs) rs1823778696
NM_019109.4(ALG1):c.149A>G (p.Gln50Arg) rs794726944
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_019892.6(INPP5E):c.226dup (p.Ala76fs)
NM_020297.4(ABCC9):c.3605C>T (p.Thr1202Met) rs2137272605
NM_020374.4(C12orf4):c.187G>T (p.Glu63Ter)
NM_020436.5(SALL4):c.2252del (p.Asn751fs)
NM_020458.4(TTC7A):c.1183dup (p.Gln395fs) rs886042806
NM_020458.4(TTC7A):c.1869C>A (p.Cys623Ter) rs1682321195
NM_020458.4(TTC7A):c.2470C>T (p.Gln824Ter) rs1057516047
NM_020458.4(TTC7A):c.286G>T (p.Glu96Ter) rs886042805
NM_020461.4(TUBGCP6):c.1615_1616del (p.Trp539fs)
NM_020549.5(CHAT):c.1444dup (p.Arg482fs)
NM_020699.4(GATAD2B):c.1438C>T (p.Gln480Ter) rs1674313030
NM_020706.2(SCAF4):c.749del (p.Pro250fs) rs2123578933
NM_020719.3(PRR12):c.4344del (p.Glu1449fs) rs2122311106
NM_020738.4(KIDINS220):c.3395dup (p.His1133fs)
NM_020745.4(AARS2):c.647dup (p.Cys218fs) rs587777589
NM_020745.4(AARS2):c.87_88dup (p.Leu30fs) rs780686559
NM_020778.5(ALPK3):c.2237del (p.Gly746fs) rs1596155145
NM_020778.5(ALPK3):c.3381del (p.Ser1129fs) rs2141569005
NM_020791.4(TAOK1):c.2125C>T (p.Arg709Ter) rs1347078601
NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln)
NM_020822.3(KCNT1):c.1420C>T (p.Arg474Cys) rs866242631
NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser) rs587777264
NM_020832.3(ZNF687):c.2810C>G (p.Pro937Arg) rs148402804
NM_020919.4(ALS2):c.1640+1G>A rs2106074229
NM_020919.4(ALS2):c.3829A>T (p.Lys1277Ter)
NM_020975.6(RET):c.1852T>G (p.Cys618Gly) rs76262710
NM_020988.3(GNAO1):c.140G>A (p.Ser47Asn) rs1596787821
NM_020988.3(GNAO1):c.724-8G>A rs1085307876
NM_021095.4(SLC5A6):c.393+2T>C
NM_021628.3(ALOXE3):c.834C>A (p.Tyr278Ter) rs765682032
NM_021871.4(FGA):c.713del (p.Lys238fs)
NM_021956.5(GRIK2):c.1979C>A (p.Thr660Lys) rs1790058081
NM_021957.4(GYS2):c.522T>G (p.Tyr174Ter)
NM_022124.6(CDH23):c.1291-1G>A rs2132596686
NM_022124.6(CDH23):c.9246_9247del (p.Phe3083fs)
NM_022356.4(P3H1):c.2154dup (p.Glu719fs) rs752671524
NM_022370.4(ROBO3):c.571del (p.Arg191fs)
NM_022370.4(ROBO3):c.571dup (p.Arg191fs) rs756837590
NM_022437.3(ABCG8):c.1752G>A (p.Trp584Ter) rs754182905
NM_022455.5(NSD1):c.1064-2A>G rs2149836062
NM_022455.5(NSD1):c.2948dup (p.Gly983_Asp984insTer) rs2149846650
NM_022455.5(NSD1):c.4378+3_4378+6del rs1562251194
NM_022455.5(NSD1):c.4771C>T (p.His1591Tyr) rs1554199368
NM_022455.5(NSD1):c.4847A>G (p.His1616Arg) rs1756522180
NM_022455.5(NSD1):c.4919G>A (p.Cys1640Tyr)
NM_022455.5(NSD1):c.5738A>G (p.Asn1913Ser) rs2127257170
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln) rs587784177
NM_022455.5(NSD1):c.7405del (p.Ala2469fs) rs2127282737
NM_022489.4(INF2):c.640C>T (p.Arg214Cys) rs912928648
NM_022552.5(DNMT3A):c.2204A>G (p.Tyr735Cys) rs147828672
NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys) rs377577594
NM_023067.4(FOXL2):c.340A>T (p.Lys114Ter) rs1057516159
NM_023067.4(FOXL2):c.843_859dup (p.Pro287fs) rs672601359
NM_023110.3(FGFR1):c.1977+1G>A rs876661334
NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg) rs121909627
NM_024298.5(MBOAT7):c.680_690dup (p.Leu231fs) rs1264222654
NM_024298.5(MBOAT7):c.758_778del (p.Glu253_Ala259del) rs750035706
NM_024301.5(FKRP):c.1267del (p.Arg423fs) rs886044083
NM_024408.4(NOTCH2):c.4593dup (p.Leu1532fs)
NM_024408.4(NOTCH2):c.6667C>T (p.Gln2223Ter)
NM_024426.6(WT1):c.1400G>A (p.Arg467Gln) rs121907903
NM_024426.6(WT1):c.1447+1G>A
NM_024496.4(IRF2BPL):c.496G>T (p.Glu166Ter) rs2139976004
NM_024685.4(BBS10):c.1091del (p.Asn364fs) rs727503818
NM_024721.5(ZFHX4):c.5695C>T (p.Arg1899Ter) rs1563560495
NM_024757.5(EHMT1):c.2712+1G>A rs1057518849
NM_025009.5(CEP135):c.1376_1379del (p.Lys459fs) rs777869134
NM_025114.4(CEP290):c.2506G>T (p.Glu836Ter)
NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs) rs764309755
NM_025114.4(CEP290):c.7027del (p.Val2343fs) rs2033827549
NM_025114.4(CEP290):c.7282_7286dup (p.Tyr2429Ter) rs2136546576
NM_025137.4(SPG11):c.5864del (p.Ser1955fs)
NM_025137.4(SPG11):c.6204A>G (p.Thr2068=)
NM_025144.4(ALPK1):c.710C>T (p.Thr237Met) rs1052954321
NM_025233.7(COASY):c.1403_1404dup (p.Ile469Ter) rs560987504
NM_030632.3(ASXL3):c.5467C>T (p.Arg1823Ter) rs2145432318
NM_030653.4(DDX11):c.1862dup (p.Thr622fs) rs766120336
NM_030665.4(RAI1):c.4317dup (p.Thr1440fs)
NM_030912.3(TRIM8):c.1257C>A (p.Cys419Ter) rs2064030791
NM_030912.3(TRIM8):c.1357C>T (p.Gln453Ter)
NM_031263.4(HNRNPK):c.440T>A (p.Leu147Ter)
NM_031307.4(PUS3):c.366_367del (p.Ala123fs) rs1944570170
NM_031885.5(BBS2):c.256_278dup (p.Val94fs) rs2144193013
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_032271.3(TRAF7):c.1570C>T (p.Arg524Trp) rs2093132159
NM_033109.5(PNPT1):c.1818T>G (p.Val606=) rs1049082567
NM_033109.5(PNPT1):c.406C>T (p.Arg136Cys)
NM_033360.4(KRAS):c.178G>A (p.Gly60Ser) rs104894359
NM_033380.3(COL4A5):c.1001G>A (p.Gly334Asp) rs104886093
NM_033380.3(COL4A5):c.1690G>T (p.Gly564Cys) rs281874674
NM_033380.3(COL4A5):c.2333G>A (p.Gly778Asp) rs2066736770
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg) rs104886189
NM_033380.3(COL4A5):c.3650G>A (p.Gly1217Asp) rs1569505758
NM_033380.3(COL4A5):c.3685G>A (p.Gly1229Ser) rs1569505771
NM_033380.3(COL4A5):c.4119_4126del (p.Gln1373fs) rs2068436110
NM_033380.3(COL4A5):c.4931G>A (p.Cys1644Tyr) rs104886302
NM_033380.3(COL4A5):c.4938C>G (p.Tyr1646Ter) rs2068717619
NM_033380.3(COL4A5):c.5047C>T (p.Arg1683Ter) rs104886306
NM_033380.3(COL4A5):c.659T>A (p.Leu220Ter) rs2066183255
NM_033629.6(TREX1):c.58dup (p.Glu20fs) rs78300695
NM_033629.6(TREX1):c.629G>A (p.Trp210Ter) rs184953805
NM_053274.3(GLMN):c.157_161del (p.Glu52_Lys53insTer) rs762515373
NM_053274.3(GLMN):c.743dup (p.Leu248fs) rs754756178
NM_057175.5(NAA15):c.1051del (p.Thr351fs) rs2110941246
NM_078480.3(PUF60):c.1154_1166del (p.Pro385fs) rs2130223089
NM_078480.3(PUF60):c.1471G>A (p.Gly491Arg) rs1816336903
NM_078480.3(PUF60):c.382_383del (p.Met128fs) rs2130258214
NM_078480.3(PUF60):c.510+1G>A rs1816618311
NM_078480.3(PUF60):c.860dup (p.Met287fs) rs2130242101
NM_078629.4(MSL3):c.1466+1G>A rs1601774648
NM_080632.3(UPF3B):c.1166_1167del (p.Lys389fs) rs2147783395
NM_130810.4(DNAAF4):c.784_893del (p.Trp262fs)
NM_133433.4(NIPBL):c.188C>A (p.Ser63Ter) rs1740845459
NM_133433.4(NIPBL):c.3316C>T (p.Arg1106Ter) rs2149668942
NM_133433.4(NIPBL):c.6892C>T (p.Arg2298Cys) rs80358376
NM_133433.4(NIPBL):c.7150C>T (p.Gln2384Ter) rs1057516034
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr) rs587784036
NM_133433.4(NIPBL):c.793_794insTTCC (p.Arg265fs) rs2149621638
NM_133433.4(NIPBL):c.8326dup (p.Ile2776fs) rs1157335847
NM_138295.5(PKD1L1):c.6473+2_6473+3del rs528302390
NM_138459.5(NUS1):c.128_141dup (p.Val48fs) rs1554200722
NM_138459.5(NUS1):c.99G>A (p.Trp33Ter) rs2114674415
NM_138576.4(BCL11B):c.1272_1278del (p.Lys425fs) rs2139759372
NM_138576.4(BCL11B):c.2448_2461dup (p.Glu821fs) rs2139753037
NM_138615.3(DHX30):c.2344C>T (p.Arg782Trp) rs753242774
NM_138694.4(PKHD1):c.10109dup (p.Phe3371fs) rs1057517071
NM_138694.4(PKHD1):c.11468C>G (p.Ser3823Ter) rs2150329160
NM_138694.4(PKHD1):c.2192C>A (p.Ser731Ter) rs1057516608
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp) rs370277502
NM_138694.4(PKHD1):c.2770C>T (p.Gln924Ter)
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs) rs398124484
NM_138694.4(PKHD1):c.528-2A>G
NM_138694.4(PKHD1):c.5751+3A>G rs1581726525
NM_138694.4(PKHD1):c.8863C>T (p.Arg2955Ter) rs1229564017
NM_138694.4(PKHD1):c.930del (p.Thr311fs) rs398124501
NM_138694.4(PKHD1):c.9825del (p.Gln3276fs)
NM_138927.4(SON):c.1892_1910del (p.Glu631fs)
NM_138927.4(SON):c.2357_2358dup (p.Ala787Ter) rs2145823461
NM_138927.4(SON):c.3852_3856del (p.Met1284fs) rs1114167303
NM_138927.4(SON):c.3968_3975delinsGTTGGT (p.Ser1323fs) rs2145831260
NM_139027.6(ADAMTS13):c.1169G>A (p.Trp390Ter)
NM_139058.3(ARX):c.502_503dup (p.Ser168fs) rs2147324110
NM_144672.4(OTOA):c.828del (p.Ser277fs) rs751447996
NM_144997.7(FLCN):c.1285dup (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1318_1334dup (p.Leu449fs) rs879255677
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del) rs796052243
NM_145239.3(PRRT2):c.649del (p.Arg217fs) rs587778771
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His) rs606231435
NM_152296.5(ATP1A3):c.2512_2516delinsTC (p.Arg838_Leu839delinsSer) rs1057516032
NM_152515.5(CKAP2L):c.501del (p.Asn167fs) rs2104884982
NM_152564.5(VPS13B):c.2158C>T (p.Gln720Ter) rs777593389
NM_152564.5(VPS13B):c.259del (p.Glu87fs)
NM_152564.5(VPS13B):c.7919G>A (p.Trp2640Ter) rs2130702734
NM_152594.3(SPRED1):c.475del (p.Gln159fs) rs2141007796
NM_152594.3(SPRED1):c.950C>G (p.Ser317Ter)
NM_152641.4(ARID2):c.1334_1338del (p.Met445fs)
NM_152641.4(ARID2):c.2521C>T (p.Gln841Ter) rs1555154946
NM_152641.4(ARID2):c.4255_4256del (p.Pro1419fs) rs2138178306
NM_152730.6(TBC1D32):c.2200C>T (p.Arg734Ter)
NM_152783.5(D2HGDH):c.71G>A (p.Trp24Ter)
NM_153033.5(KCTD7):c.631C>T (p.Arg211Ter) rs750811871
NM_153614.4(DNAJB13):c.92_95delinsGAG (p.His31fs)
NM_170606.3(KMT2C):c.10724_10725dup (p.Ile3576fs)
NM_170606.3(KMT2C):c.5419C>T (p.Gln1807Ter) rs2129121010
NM_172107.4(KCNQ2):c.1093C>T (p.Arg365Ter)
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp) rs773171451
NM_172107.4(KCNQ2):c.195_198del (p.Lys66fs)
NM_172107.4(KCNQ2):c.2330_2331dup (p.Glu778fs)
NM_172107.4(KCNQ2):c.593G>A (p.Arg198Gln) rs796052621
NM_172107.4(KCNQ2):c.629G>A (p.Arg210His) rs886041262
NM_172107.4(KCNQ2):c.740C>T (p.Ser247Leu) rs74315392
NM_172107.4(KCNQ2):c.793G>A (p.Ala265Thr) rs794727740
NM_172107.4(KCNQ2):c.829A>G (p.Thr277Ala)
NM_172107.4(KCNQ2):c.835G>A (p.Gly279Ser)
NM_172107.4(KCNQ2):c.901G>A (p.Gly301Ser) rs1057516099
NM_172107.4(KCNQ2):c.949G>A (p.Ala317Thr) rs1600751236
NM_172337.2(OTX2):c.402dup (p.Ser135Leufs) rs1555350223
NM_173076.3(ABCA12):c.6234-1G>C rs1553520468
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) rs606231128
NM_174936.4(PCSK9):c.1120G>T (p.Asp374Tyr) rs137852912
NM_176824.3(BBS7):c.1002del (p.Asn335fs) rs762782183
NM_177559.3(CSNK2A1):c.140G>A (p.Arg47Gln) rs869312845
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) rs869312840
NM_181486.4(TBX5):c.105del (p.Ser36fs) rs1057516042
NM_181552.4(CUX1):c.875T>A (p.Leu292Ter)
NM_181789.4(GLDN):c.980_981del (p.Ser327fs) rs755420151
NM_182548.4(LHFPL5):c.250del (p.Pro83_Leu84insTer) rs779841884
NM_182925.5(FLT4):c.1755C>G (p.Tyr585Ter)
NM_182931.3(KMT2E):c.1474_1478dup (p.Lys494fs)
NM_182931.3(KMT2E):c.847C>T (p.Arg283Ter)
NM_182948.4(PRKACB):c.404A>T (p.His135Leu)
NM_183050.4(BCKDHB):c.272del (p.Ala91fs) rs2127726212
NM_194248.3(OTOF):c.4885del (p.His1629fs) rs2148026336
NM_194277.3(FRMD7):c.781C>T (p.Arg261Ter) rs1927850772
NM_194454.3(KRIT1):c.1524_1528del (p.Arg510fs) rs1057517754
NM_194454.3(KRIT1):c.1561C>T (p.Gln521Ter) rs2131435199
NM_194454.3(KRIT1):c.857G>A (p.Trp286Ter)
NM_194454.3(KRIT1):c.953_956del (p.Asp318fs)
NM_198239.2(CCN6):c.737del (p.Leu246fs)
NM_201548.5(CERKL):c.316C>A (p.Arg106Ser) rs569826109
NM_203475.3(PORCN):c.268C>T (p.Arg90Ter) rs1114167283
NM_206933.2(USH2A):c.850_853delGAGA
NM_206933.4(USH2A):c.10699del (p.Gln3566_Leu3567insTer) rs1661659605
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn) rs483353055
NM_206933.4(USH2A):c.5614delinsTTAACTTGGCAT (p.Ala1872fs) rs869312180
NM_206933.4(USH2A):c.820C>G (p.Arg274Gly) rs397518036
NM_207581.4(DUOXA2):c.298del (p.Arg100fs)
NM_212482.4(FN1):c.2918A>G (p.Tyr973Cys) rs137854488
NR_003051.3(RMRP):n.-5_-4insAACTACTCTGTGAAGCTGA
NR_003051.4(RMRP):n.94dup rs2131808768

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