ClinVar Miner

List of variants reported as likely pathogenic by PreventionGenetics, part of Exact Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3529
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005105.5(RBM8A):c.*6C>G rs12079762 0.04454
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_005105.5(RBM8A):c.67+32G>C rs201779890 0.00518
NM_000350.3(ABCA4):c.4253+43G>A rs61754045 0.00486
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762 0.00459
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly) rs139548132 0.00360
NM_000055.2(BCHE):c.1253G>T (p.Gly418Val) rs28933390 0.00310
NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu) rs144478519 0.00264
NM_000065.5(C6):c.2381+2T>C rs76202909 0.00242
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg) rs61749455 0.00194
NM_004771.4(MMP20):c.389C>T (p.Thr130Ile) rs61730849 0.00180
NM_000250.2(MPO):c.1705C>T (p.Arg569Trp) rs119468010 0.00173
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr) rs114925667 0.00169
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_006446.5(SLCO1B1):c.1738C>T (p.Arg580Ter) rs71581941 0.00150
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys) rs28931570 0.00137
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala) rs80265967 0.00126
NM_002470.4(MYH3):c.-9+1G>A rs557849165 0.00117
NM_000552.5(VWF):c.5191T>A (p.Ser1731Thr) rs61750603 0.00101
NM_024063.3(AFG2B):c.527G>T (p.Gly176Val) rs145451123 0.00098
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile) rs61750563 0.00088
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_025216.3(WNT10A):c.337C>T (p.Arg113Cys) rs141074983 0.00080
NM_000392.5(ABCC2):c.1967+1G>A rs146405172 0.00078
NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser) rs146132083 0.00076
NM_019112.4(ABCA7):c.4208del (p.Leu1403fs) rs538591288 0.00076
NM_001009994.3(RIPPLY2):c.240-4T>G rs370933531 0.00074
NM_001001548.3(CD36):c.1156C>T (p.Arg386Trp) rs148910227 0.00072
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr) rs143696882 0.00066
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg) rs141103838 0.00056
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) rs34946978 0.00053
NM_001243279.3(ACSF3):c.1A>G (p.Met1Val) rs370382601 0.00053
NM_017646.6(TRIT1):c.979C>T (p.Arg327Ter) rs144042123 0.00052
NM_025114.4(CEP290):c.4813-2A>G rs369523378 0.00046
NM_015865.7(SLC14A1):c.342-1G>A rs78937798 0.00043
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp) rs150429680 0.00041
NM_153700.2(STRC):c.3460C>T (p.Arg1154Ter) rs576724182 0.00041
NM_178452.6(DNAAF1):c.1698+1G>A rs139519641 0.00041
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr) rs202201763 0.00039
NM_022835.3(PLEKHG2):c.610C>T (p.Arg204Trp) rs201201843 0.00039
NM_001395891.1(CLASP1):c.196-567G>A rs559979281 0.00038
NM_033100.4(CDHR1):c.55+1G>A rs547198427 0.00036
NM_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00035
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797 0.00035
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969 0.00033
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs) rs72553875 0.00031
NM_001171.6(ABCC6):c.1108A>G (p.Asn370Asp) rs72653760 0.00030
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00029
NM_001383.6(DPH1):c.359T>C (p.Leu120Pro) rs200530055 0.00029
NM_144991.3(TSPEAR):c.589C>T (p.Arg197Ter) rs139455627 0.00027
NM_000760.4(CSF3R):c.1640G>A (p.Trp547Ter) rs138156467 0.00026
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_005422.4(TECTA):c.327C>T (p.Gly109=) rs727504830 0.00026
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys) rs142931246 0.00025
NM_001395891.1(CLASP1):c.196-562G>A rs370715569 0.00025
NM_000743.5(CHRNA3):c.907_908del (p.Leu303fs) rs538193392 0.00024
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser) rs202037973 0.00024
NM_020800.3(IFT80):c.1093A>G (p.Thr365Ala) rs140202230 0.00023
NM_001366385.1(CARD14):c.205C>T (p.Arg69Trp) rs375624435 0.00022
NM_003500.4(ACOX2):c.673C>T (p.Arg225Trp) rs150832314 0.00022
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg) rs137852988 0.00022
NM_000369.5(TSHR):c.1637G>A (p.Trp546Ter) rs121908866 0.00021
NM_001081.4(CUBN):c.9079G>A (p.Gly3027Arg) rs150202444 0.00021
NM_002016.2(FLG):c.94G>T (p.Glu32Ter) rs114733570 0.00021
NM_012275.3(IL36RN):c.115+6T>C rs148755083 0.00021
NM_012452.3(TNFRSF13B):c.236A>G (p.Tyr79Cys) rs72553876 0.00021
NM_198053.3(CD247):c.301C>T (p.Gln101Ter) rs55729925 0.00021
NM_206965.2(FTCD):c.211C>T (p.Arg71Ter) rs8133955 0.00021
NM_001144869.3(LIPT2):c.377T>G (p.Leu126Arg) rs753904927 0.00020
NM_003049.4(SLC10A1):c.755G>A (p.Arg252His) rs147226818 0.00020
NM_012144.4(DNAI1):c.180G>A (p.Ala60=) rs201120508 0.00020
NM_001354768.3(NRL):c.654del (p.Cys219fs) rs761024023 0.00019
NM_001369.3(DNAH5):c.4360C>T (p.Arg1454Ter) rs148139814 0.00019
NM_014384.3(ACAD8):c.958G>A (p.Ala320Thr) rs200620279 0.00019
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) rs72552778 0.00018
NM_015311.3(OBSL1):c.3922C>T (p.Arg1308Ter) rs561778744 0.00018
NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu) rs190298665 0.00017
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe) rs145254330 0.00017
NM_001171.6(ABCC6):c.2787+1G>T rs72664209 0.00017
NM_000094.4(COL7A1):c.5086C>T (p.Arg1696Cys) rs2229820 0.00016
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964 0.00016
NM_000439.5(PCSK1):c.524C>T (p.Thr175Met) rs140520429 0.00016
NM_000492.4(CFTR):c.489+3A>G rs377729736 0.00016
NM_001085487.3(MYSM1):c.219-1G>A rs201886018 0.00016
NM_004727.3(SLC24A1):c.754_755del (p.Met252fs) rs777989874 0.00016
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) rs200672755 0.00016
NM_012452.3(TNFRSF13B):c.311G>A (p.Cys104Tyr) rs72553879 0.00016
NM_032229.3(SLITRK6):c.1240C>T (p.Gln414Ter) rs587777069 0.00016
NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg) rs148773718 0.00015
NM_001081.4(CUBN):c.9922T>C (p.Trp3308Arg) rs752843169 0.00014
NM_001130987.2(DYSF):c.3175C>T (p.Arg1059Cys) rs144598063 0.00014
NM_001363711.2(DUOX2):c.1126C>T (p.Arg376Trp) rs119472029 0.00014
NM_006907.4(PYCR1):c.355C>T (p.Arg119Cys) rs121918376 0.00014
NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys) rs150283105 0.00014
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048 0.00014
NM_024339.5(THOC6):c.569G>A (p.Gly190Glu) rs199795381 0.00014
NM_130849.4(SLC39A4):c.599C>T (p.Pro200Leu) rs121434287 0.00014
NM_001206927.2(DNAH8):c.9194+1G>A rs144711161 0.00013
NM_001395891.1(CLASP1):c.196-591C>T rs756026847 0.00013
NM_002016.2(FLG):c.2362C>T (p.Arg788Ter) rs183942200 0.00013
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His) rs188824058 0.00013
NM_004562.3(PRKN):c.1289G>A (p.Gly430Asp) rs191486604 0.00013
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_015910.7(WDPCP):c.979C>T (p.Gln327Ter) rs182144885 0.00013
NM_019109.5(ALG1):c.1187+3A>G rs369160589 0.00013
NM_022437.3(ABCG8):c.1234C>T (p.Arg412Ter) rs137852991 0.00013
NM_000293.3(PHKB):c.1127-2A>G rs535749057 0.00012
NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr) rs147715336 0.00011
NM_000487.6(ARSA):c.869G>A (p.Arg290His) rs199476355 0.00011
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln) rs397508137 0.00011
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu) rs747754623 0.00011
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly) rs191456345 0.00011
NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys) rs121908578 0.00011
NM_015631.6(TCTN3):c.2T>G (p.Met1Arg) rs373479905 0.00011
NM_016239.4(MYO15A):c.9861C>T (p.Gly3287=) rs372466080 0.00011
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg) rs398124495 0.00011
NM_144991.3(TSPEAR):c.38del (p.Leu13fs) rs778688031 0.00011
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266 0.00010
NM_006031.6(PCNT):c.4447-2A>G rs760664460 0.00010
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile) rs765779905 0.00009
NM_000277.3(PAH):c.434A>T (p.Asp145Val) rs140175796 0.00009
NM_000341.4(SLC3A1):c.647C>T (p.Thr216Met) rs369641941 0.00009
NM_000392.5(ABCC2):c.2901C>A (p.Tyr967Ter) rs17222547 0.00009
NM_000424.4(KRT5):c.1675C>T (p.Arg559Ter) rs754242209 0.00009
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser) rs375315619 0.00009
NM_001177701.3(IFT27):c.352+1G>T rs780659194 0.00009
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter) rs199947197 0.00009
NM_001256317.3(TMPRSS3):c.316C>T (p.Arg106Cys) rs139805921 0.00009
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln) rs149712244 0.00009
NM_007103.4(NDUFV1):c.1157G>A (p.Arg386His) rs536758576 0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) rs199826737 0.00009
NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter) rs377357931 0.00009
NM_022773.4(LMF1):c.295C>T (p.Gln99Ter) rs752473648 0.00009
NM_024753.5(TTC21B):c.2500C>T (p.Gln834Ter) rs79746977 0.00009
NM_025114.4(CEP290):c.4437+1G>A rs760915898 0.00009
NM_052989.3(IFT122):c.565C>T (p.Arg189Ter) rs138329739 0.00009
NM_206933.4(USH2A):c.4397-1G>A rs199982344 0.00009
NM_001025389.2(AMPD3):c.1717C>T (p.Arg573Cys) rs3741040 0.00008
NM_001077365.2(POMT1):c.752C>T (p.Pro251Leu) rs139660235 0.00008
NM_001363711.2(DUOX2):c.4552G>A (p.Gly1518Ser) rs368512412 0.00008
NM_032551.5(KISS1R):c.1195T>A (p.Ter399Arg) rs104894702 0.00008
NM_000479.5(AMH):c.905G>A (p.Arg302Gln) rs536688211 0.00007
NM_001199799.2(ILDR1):c.775C>T (p.Arg259Ter) rs920852517 0.00007
NM_001292063.2(OTOG):c.7418del (p.Arg2473fs) rs751369871 0.00007
NM_002225.5(IVD):c.550+1G>A rs377147994 0.00007
NM_012203.2(GRHPR):c.139C>T (p.Arg47Ter) rs774654020 0.00007
NM_018127.7(ELAC2):c.2245C>T (p.His749Tyr) rs762471494 0.00007
NM_033419.5(PGAP3):c.827C>T (p.Pro276Leu) rs750093817 0.00007
NM_033440.3(CELA2A):c.209C>T (p.Thr70Met) rs372947070 0.00007
NM_000094.4(COL7A1):c.6501G>A (p.Pro2167=) rs767539005 0.00006
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=) rs149797103 0.00006
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu) rs147327209 0.00006
NM_000158.4(GBE1):c.555+1G>T rs759707498 0.00006
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer) rs779339230 0.00006
NM_000237.3(LPL):c.292G>A (p.Ala98Thr) rs145657341 0.00006
NM_000294.3(PHKG2):c.96-11G>A rs751600886 0.00006
NM_000303.3(PMM2):c.359T>C (p.Ile120Thr) rs368582085 0.00006
NM_000341.4(SLC3A1):c.1084C>T (p.Arg362Cys) rs375399468 0.00006
NM_000375.3(UROS):c.63+1G>A rs373864821 0.00006
NM_000383.4(AIRE):c.798+1G>A rs138489664 0.00006
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile) rs397516421 0.00006
NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln) rs372685632 0.00006
NM_000497.4(CYP11B1):c.799+5G>C rs193922542 0.00006
NM_000587.4(C7):c.1135G>C (p.Gly379Arg) rs121964921 0.00006
NM_001006658.3(CR2):c.658C>T (p.Arg220Ter) rs141472681 0.00006
NM_001171.6(ABCC6):c.3887G>A (p.Gly1296Asp) rs374086268 0.00006
NM_001199397.3(NEK1):c.481C>T (p.Arg161Ter) rs202115635 0.00006
NM_001267550.2(TTN):c.35890C>T (p.Arg11964Ter) rs1266298136 0.00006
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala) rs200334114 0.00006
NM_004183.4(BEST1):c.821C>G (p.Pro274Arg) rs62639270 0.00006
NM_006642.5(SDCCAG8):c.740+356C>T rs397515337 0.00006
NM_006767.4(LZTR1):c.1396C>T (p.Arg466Trp) rs550922200 0.00006
NM_006767.4(LZTR1):c.2062C>T (p.Arg688Cys) rs587777178 0.00006
NM_018076.5(ODAD2):c.724C>T (p.Gln242Ter) rs369669370 0.00006
NM_020320.5(RARS2):c.1327T>C (p.Ser443Pro) rs775295739 0.00006
NM_022437.3(ABCG8):c.788G>A (p.Arg263Gln) rs137852990 0.00006
NM_025114.4(CEP290):c.6645+1G>A rs201218801 0.00006
NM_033028.5(BBS4):c.1440dup (p.Leu481fs) rs780269741 0.00006
NM_033409.4(SLC52A3):c.62A>G (p.Asn21Ser) rs199588390 0.00006
NM_144585.4(SLC22A12):c.774G>A (p.Trp258Ter) rs121907892 0.00006
NM_152464.3(TMEM199):c.92G>C (p.Arg31Pro) rs782531869 0.00006
NM_153700.2(STRC):c.4219-1G>A rs748854592 0.00006
NM_181426.2(CCDC39):c.1874G>T (p.Ser625Ile) rs769223754 0.00006
NM_000053.4(ATP7B):c.1285+5G>T rs370579582 0.00005
NM_000158.4(GBE1):c.1544G>A (p.Arg515His) rs201958741 0.00005
NM_000372.5(TYR):c.1063G>C (p.Ala355Pro) rs62645908 0.00005
NM_000431.4(MVK):c.1139A>G (p.His380Arg) rs104895324 0.00005
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058 0.00005
NM_000540.3(RYR1):c.14344G>A (p.Gly4782Arg) rs746538672 0.00005
NM_000785.4(CYP27B1):c.1358G>A (p.Arg453His) rs759208930 0.00005
NM_001077418.3(TMEM231):c.664G>A (p.Val222Ile) rs397514753 0.00005
NM_001171613.2(PREPL):c.40C>T (p.Gln14Ter) rs200761047 0.00005
NM_001875.5(CPS1):c.2148T>A (p.Asn716Lys) rs369061090 0.00005
NM_004463.3(FGD1):c.2728C>T (p.Arg910Ter) rs1269514277 0.00005
NM_006005.3(WFS1):c.1673G>A (p.Arg558His) rs774265764 0.00005
NM_006005.3(WFS1):c.505G>A (p.Glu169Lys) rs148953711 0.00005
NM_012144.4(DNAI1):c.1490G>A (p.Gly497Asp) rs376252276 0.00005
NM_014908.4(DOLK):c.1558A>G (p.Thr520Ala) rs374860681 0.00005
NM_019892.6(INPP5E):c.1754G>A (p.Arg585His) rs752300607 0.00005
NM_022132.5(MCCC2):c.641G>C (p.Gly214Ala) rs277995 0.00005
NM_025103.4(IFT74):c.1685-1G>T rs200699377 0.00005
NM_025207.5(FLAD1):c.1588C>T (p.Arg530Cys) rs771466122 0.00005
NM_144585.4(SLC22A12):c.1145A>T (p.Gln382Leu) rs765990518 0.00005
NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys) rs755554442 0.00004
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser) rs587783318 0.00004
NM_000110.4(DPYD):c.1651G>A (p.Ala551Thr) rs777425216 0.00004
NM_000110.4(DPYD):c.1681C>T (p.Arg561Ter) rs1057516968 0.00004
NM_000136.3(FANCC):c.521+1G>A rs145394391 0.00004
NM_000282.4(PCCA):c.782A>G (p.Glu261Gly) rs1169861687 0.00004
NM_000375.3(UROS):c.683C>T (p.Thr228Met) rs121908014 0.00004
NM_000392.5(ABCC2):c.1031+4A>G rs373384181 0.00004
NM_000435.3(NOTCH3):c.1732C>T (p.Arg578Cys) rs769773673 0.00004
NM_000492.4(CFTR):c.3874-4522A>G rs895394181 0.00004
NM_000501.4(ELN):c.164-2A>C rs782096458 0.00004
NM_000535.7(PMS2):c.1A>G (p.Met1Val) rs587779333 0.00004
NM_000939.4(POMC):c.433C>T (p.Arg145Cys) rs756412997 0.00004
NM_001001548.3(CD36):c.1254+1G>A rs148051111 0.00004
NM_001015880.2(PAPSS2):c.222C>G (p.Tyr74Ter) rs374379931 0.00004
NM_001267550.2(TTN):c.36253C>T (p.Gln12085Ter) rs1384922524 0.00004
NM_001287.6(CLCN7):c.857G>A (p.Arg286Gln) rs760956030 0.00004
NM_001330078.2(NRXN1):c.772+1032G>A rs771759988 0.00004
NM_001360.3(DHCR7):c.1A>G (p.Met1Val) rs104886033 0.00004
NM_001363711.2(DUOX2):c.1295G>A (p.Arg432His) rs530736554 0.00004
NM_001378609.3(OTOGL):c.3213+1G>A rs370730786 0.00004
NM_001384732.1(CPLANE1):c.1A>G (p.Met1Val) rs891693382 0.00004
NM_001384732.1(CPLANE1):c.2611C>T (p.Arg871Cys) rs760906097 0.00004
NM_001918.5(DBT):c.1018-550A>G rs796052135 0.00004
NM_002187.3(IL12B):c.660T>A (p.Tyr220Ter) rs748215576 0.00004
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln) rs143348838 0.00004
NM_002296.4(LBR):c.1640A>G (p.Asn547Ser) rs374343844 0.00004
NM_003049.4(SLC10A1):c.132C>A (p.Cys44Ter) rs200809908 0.00004
NM_003119.4(SPG7):c.2096dup (p.Met699fs) rs747503698 0.00004
NM_003401.5(XRCC4):c.481C>T (p.Arg161Ter) rs779773463 0.00004
NM_003640.5(ELP1):c.3592C>T (p.Arg1198Ter) rs376078668 0.00004
NM_003982.4(SLC7A7):c.377del (p.Ile126fs) rs774080549 0.00004
NM_005886.3(KATNB1):c.1416+1G>A rs376558334 0.00004
NM_006031.6(PCNT):c.9706C>T (p.Arg3236Ter) rs757793925 0.00004
NM_007254.4(PNKP):c.636+1G>T rs1247055716 0.00004
NM_017613.4(DONSON):c.1047-9A>G rs779149681 0.00004
NM_018051.5(DYNC2I1):c.2305G>A (p.Glu769Lys) rs193204571 0.00004
NM_018082.6(POLR3B):c.2303G>A (p.Arg768His) rs267608687 0.00004
NM_018344.6(SLC29A3):c.1087C>T (p.Arg363Trp) rs387907067 0.00004
NM_020166.5(MCCC1):c.1A>G (p.Met1Val) rs762463914 0.00004
NM_025114.4(CEP290):c.4438-3del rs747323414 0.00004
NM_030962.4(SBF2):c.5254_5255insTTAT (p.Lys1752fs) rs1064793771 0.00004
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro) rs149364097 0.00004
NM_032608.7(MYO18B):c.5197C>T (p.Gln1733Ter) rs775126785 0.00004
NM_130810.4(DNAAF4):c.10C>T (p.Gln4Ter) rs762704959 0.00004
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu) rs367707903 0.00004
NM_144596.4(TTC8):c.489G>A (p.Thr163=) rs119103286 0.00004
NM_152384.3(BBS5):c.143-1G>C rs1054138918 0.00004
NM_153240.5(NPHP3):c.2851C>T (p.Arg951Ter) rs148670389 0.00004
NM_153704.6(TMEM67):c.1975C>T (p.Arg659Ter) rs150332116 0.00004
NM_172351.3(CD46):c.857-174A>C rs773618613 0.00004
NM_177924.5(ASAH1):c.125C>T (p.Thr42Met) rs145873635 0.00004
NM_177924.5(ASAH1):c.456A>C (p.Lys152Asn) rs200455852 0.00004
NM_178497.3(C4orf26):c.318G>A rs146645381 0.00004
NM_203395.3(IYD):c.301C>T (p.Arg101Trp) rs121918138 0.00004
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850 0.00004
NM_000018.4(ACADVL):c.1748C>G (p.Ser583Trp) rs1085307648 0.00003
NM_000111.3(SLC26A3):c.571-2A>G rs386833486 0.00003
NM_000128.4(F11):c.1135+5G>A rs758515608 0.00003
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) rs371897078 0.00003
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172 0.00003
NM_000157.4(GBA1):c.667T>C (p.Trp223Arg) rs61748906 0.00003
NM_000158.4(GBE1):c.708G>C (p.Gln236His) rs137852892 0.00003
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr) rs567564095 0.00003
NM_000204.5(CFI):c.1420C>T (p.Arg474Ter) rs121964913 0.00003
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys) rs45611033 0.00003
NM_000275.3(OCA2):c.1349C>T (p.Thr450Met) rs772019064 0.00003
NM_000283.4(PDE6B):c.299G>A (p.Arg100His) rs555600300 0.00003
NM_000334.4(SCN4A):c.4378C>T (p.Arg1460Trp) rs368256039 0.00003
NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His) rs61750142 0.00003
NM_000388.4(CASR):c.2303G>T (p.Gly768Val) rs201858689 0.00003
NM_000439.5(PCSK1):c.470C>T (p.Thr157Met) rs200462856 0.00003
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly) rs201124247 0.00003
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp) rs202179988 0.00003
NM_000527.5(LDLR):c.-121T>C rs777716188 0.00003
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148 0.00003
NM_000540.3(RYR1):c.7291G>A (p.Asp2431Asn) rs193922810 0.00003
NM_001006658.3(CR2):c.2625C>A (p.Cys875Ter) rs751868289 0.00003
NM_001193329.3(AOPEP):c.1215del (p.Val406fs) rs747916174 0.00003
NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys) rs398122965 0.00003
NM_001258392.3(CLPB):c.713C>T (p.Thr238Met) rs200032855 0.00003
NM_001267550.2(TTN):c.17461+1G>T rs747990127 0.00003
NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp) rs398123018 0.00003
NM_001370658.1(BTD):c.535G>A (p.Val179Met) rs397514375 0.00003
NM_001378183.1(PIEZO2):c.1661T>A (p.Leu554Ter) rs978512526 0.00003
NM_002485.5(NBN):c.897-2A>T rs864622090 0.00003
NM_002778.4(PSAP):c.679_681del (p.Lys227del) rs1431844269 0.00003
NM_003001.5(SDHC):c.377A>G (p.Tyr126Cys) rs898854295 0.00003
NM_004004.6(GJB2):c.2T>C (p.Met1Thr) rs371086981 0.00003
NM_004453.4(ETFDH):c.1084G>A (p.Gly362Arg) rs369711837 0.00003
NM_005051.3(QARS1):c.134G>T (p.Gly45Val) rs587777331 0.00003
NM_005373.3(MPL):c.1422G>A (p.Trp474Ter) rs754859909 0.00003
NM_005912.3(MC4R):c.449C>T (p.Thr150Ile) rs766665118 0.00003
NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp) rs77103971 0.00003
NM_006642.5(SDCCAG8):c.1985+1G>T rs752046196 0.00003
NM_006767.4(LZTR1):c.842C>T (p.Pro281Leu) rs1390048261 0.00003
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro) rs587782471 0.00003
NM_007375.4(TARDBP):c.800A>G (p.Asn267Ser) rs80356718 0.00003
NM_012144.4(DNAI1):c.1543G>A (p.Gly515Ser) rs79833450 0.00003
NM_014875.3(KIF14):c.3661+1G>T rs151249558 0.00003
NM_015213.4(DENND5A):c.2314C>T (p.Arg772Ter) rs1057519563 0.00003
NM_018192.4(P3H2):c.1387C>T (p.Gln463Ter) rs1440913446 0.00003
NM_020041.3(SLC2A9):c.224T>G (p.Leu75Arg) rs863225072 0.00003
NM_020680.4(SCYL1):c.526A>T (p.Lys176Ter) rs535912271 0.00003
NM_024079.5(ALG8):c.535C>T (p.Arg179Ter) rs762811727 0.00003
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444 0.00003
NM_025243.4(SLC19A3):c.854G>A (p.Trp285Ter) rs373198092 0.00003
NM_032043.3(BRIP1):c.2492+2dup rs587780240 0.00003
NM_138694.4(PKHD1):c.10658T>C (p.Ile3553Thr) rs137852948 0.00003
NM_148897.3(SDR9C7):c.599T>C (p.Ile200Thr) rs770729222 0.00003
NM_152305.3(POGLUT1):c.814C>T (p.Arg272Ter) rs747897279 0.00003
NM_182961.4(SYNE1):c.24129+2T>C rs544985182 0.00003
NM_000023.4(SGCA):c.242G>A (p.Arg81His) rs747984529 0.00002
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met) rs1569541120 0.00002
NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val) rs371840514 0.00002
NM_000055.4(BCHE):c.594T>G (p.Asp198Glu) rs781368801 0.00002
NM_000071.3(CBS):c.430G>A (p.Glu144Lys) rs121964966 0.00002
NM_000092.5(COL4A4):c.1223G>A (p.Gly408Glu) rs1026613471 0.00002
NM_000102.4(CYP17A1):c.1247G>A (p.Arg416His) rs104894155 0.00002
NM_000130.5(F5):c.1321C>T (p.Arg441Cys) rs747006175 0.00002
NM_000195.5(HPS1):c.1857+2T>C rs374689398 0.00002
NM_000207.3(INS):c.266G>A (p.Arg89His) rs28933985 0.00002
NM_000275.3(OCA2):c.874T>C (p.Phe292Leu) rs745573222 0.00002
NM_000313.4(PROS1):c.200A>C (p.Glu67Ala) rs766423432 0.00002
NM_000335.5(SCN5A):c.4498C>G (p.Leu1500Val) rs199473266 0.00002
NM_000343.4(SLC5A1):c.1400T>C (p.Ile467Thr) rs199872460 0.00002
NM_000350.3(ABCA4):c.2827C>T (p.Arg943Trp) rs61749446 0.00002
NM_000359.3(TGM1):c.857G>A (p.Arg286Gln) rs121918727 0.00002
NM_000370.3(TTPA):c.2T>C (p.Met1Thr) rs786204758 0.00002
NM_000380.4(XPA):c.555G>C (p.Gln185His) rs746617574 0.00002
NM_000398.7(CYB5R3):c.173G>A (p.Arg58Gln) rs121965007 0.00002
NM_000532.5(PCCB):c.836C>T (p.Pro279Leu) rs780837200 0.00002
NM_000536.4(RAG2):c.1492A>T (p.Lys498Ter) rs373151027 0.00002
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp) rs763112609 0.00002
NM_000540.3(RYR1):c.122T>C (p.Phe41Ser) rs766407858 0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys) rs769904764 0.00002
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp) rs398124244 0.00002
NM_001199397.3(NEK1):c.214+1G>A rs1049502301 0.00002
NM_001243279.3(ACSF3):c.238C>T (p.Gln80Ter) rs138156311 0.00002
NM_001267550.2(TTN):c.107628del (p.Asn35876fs) rs766624923 0.00002
NM_001377.3(DYNC2H1):c.1360+2del rs780539887 0.00002
NM_001377.3(DYNC2H1):c.5547del (p.Phe1849fs) rs771003300 0.00002
NM_001384732.1(CPLANE1):c.4634G>A (p.Arg1545His) rs765457523 0.00002
NM_001385.3(DPYS):c.424-1G>A rs879851088 0.00002
NM_002335.4(LRP5):c.1519G>A (p.Gly507Ser) rs765290711 0.00002
NM_002529.4(NTRK1):c.1945C>T (p.Arg649Trp) rs369353892 0.00002
NM_003322.6(TULP1):c.932G>A (p.Arg311Gln) rs1279906432 0.00002
NM_003640.5(ELP1):c.312T>A (p.Cys104Ter) rs1291760879 0.00002
NM_003846.3(PEX11B):c.361C>T (p.Gln121Ter) rs782365743 0.00002
NM_004483.5(GCSH):c.226C>T (p.Gln76Ter) rs769222264 0.00002
NM_005373.3(MPL):c.460T>C (p.Trp154Arg) rs758428763 0.00002
NM_005562.3(LAMC2):c.80-2A>G rs771613805 0.00002
NM_006214.4(PHYH):c.75+1G>T rs970229634 0.00002
NM_006231.4(POLE):c.270del (p.Asp90fs) rs878854854 0.00002
NM_014043.4(CHMP2B):c.376C>T (p.Gln126Ter) rs1203007423 0.00002
NM_014249.4(NR2E3):c.364C>T (p.Arg122Cys) rs527236086 0.00002
NM_014845.6(FIG4):c.877-2A>C rs143956557 0.00002
NM_016222.4(DDX41):c.653G>A (p.Gly218Asp) rs371460149 0.00002
NM_016356.5(DCDC2):c.942del (p.Gly315fs) rs1554144869 0.00002
NM_017534.6(MYH2):c.4537C>T (p.Gln1513Ter) rs929311433 0.00002
NM_018706.7(DHTKD1):c.2396_2397del (p.Pro799fs) rs757583515 0.00002
NM_019616.4(F7):c.1181G>A (p.Trp394Ter) rs1460304955 0.00002
NM_019892.6(INPP5E):c.1753C>T (p.Arg585Cys) rs763992407 0.00002
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter) rs185741664 0.00002
NM_020366.4(RPGRIP1):c.1792C>T (p.Arg598Ter) rs775935766 0.00002
NM_020401.4(NUP107):c.790C>T (p.Arg264Ter) rs768060090 0.00002
NM_020547.3(AMHR2):c.1387C>T (p.Arg463Cys) rs374247138 0.00002
NM_024063.3(AFG2B):c.1199C>T (p.Thr400Ile) rs1372719653 0.00002
NM_024417.5(FDXR):c.1156C>T (p.Arg386Trp) rs760345680 0.00002
NM_031307.4(PUS3):c.838C>T (p.Arg280Ter) rs374443634 0.00002
NM_032383.5(HPS3):c.436G>T (p.Gly146Ter) rs752837159 0.00002
NM_130468.4(CHST14):c.784G>A (p.Glu262Lys) rs1247205097 0.00002
NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys) rs267606762 0.00002
NM_145038.5(DRC1):c.344dup (p.Arg117fs) rs747358703 0.00002
NM_147127.5(EVC2):c.3121C>T (p.Gln1041Ter) rs376133710 0.00002
NM_152384.3(BBS5):c.412C>T (p.Arg138Cys) rs1238632042 0.00002
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter) rs140353201 0.00002
NM_153240.5(NPHP3):c.2369T>C (p.Leu790Pro) rs398124546 0.00002
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe) rs758571672 0.00002
NM_213622.4(STAMBP):c.230A>G (p.His77Arg) rs150593655 0.00002
NM_000016.6(ACADM):c.1052C>T (p.Thr351Ile) rs766140986 0.00001
NM_000016.6(ACADM):c.447G>A (p.Met149Ile) rs121434277 0.00001
NM_000016.6(ACADM):c.503A>C (p.Asp168Ala) rs745844469 0.00001
NM_000016.6(ACADM):c.599+1G>A rs866388216 0.00001
NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly) rs387906950 0.00001
NM_000017.4(ACADS):c.596C>T (p.Ala199Val) rs766579880 0.00001
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser) rs545215807 0.00001
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp) rs148639841 0.00001
NM_000033.4(ABCD1):c.1937C>T (p.Ala646Val) rs1258368672 0.00001
NM_000051.4(ATM):c.5763-1056G>A rs1325461375 0.00001
NM_000053.4(ATP7B):c.2122-8T>G rs193922102 0.00001
NM_000053.4(ATP7B):c.2953T>C (p.Cys985Arg) rs193922104 0.00001
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NM_000066.4(C8B):c.1524C>A (p.Cys508Ter) rs1176902020 0.00001
NM_000069.3(CACNA1S):c.1583G>T (p.Arg528Leu) rs80338777 0.00001
NM_000080.4(CHRNE):c.1052C>T (p.Pro351Leu) rs1168592296 0.00001
NM_000082.4(ERCC8):c.174C>A (p.Tyr58Ter) rs530679736 0.00001
NM_000091.5(COL4A3):c.1468G>C (p.Gly490Arg) rs1256505387 0.00001
NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg) rs868002181 0.00001
NM_000091.5(COL4A3):c.3593G>A (p.Gly1198Asp) rs755849032 0.00001
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val) rs775373641 0.00001
NM_000092.5(COL4A4):c.1118G>A (p.Gly373Glu) rs755649235 0.00001
NM_000092.5(COL4A4):c.1360G>A (p.Gly454Arg) rs1319908269 0.00001
NM_000092.5(COL4A4):c.193G>A (p.Gly65Ser) rs776036994 0.00001
NM_000092.5(COL4A4):c.559-2A>G rs766243664 0.00001
NM_000094.4(COL7A1):c.7485+5G>A rs988031901 0.00001
NM_000102.4(CYP17A1):c.316T>C (p.Ser106Pro) rs104894135 0.00001
NM_000132.4(F8):c.1660A>G (p.Ser554Gly) rs137852419 0.00001
NM_000135.4(FANCA):c.2222+1G>A rs775388912 0.00001
NM_000136.3(FANCC):c.1628C>A (p.Ser543Ter) rs867319477 0.00001
NM_000155.4(GALT):c.814C>T (p.Arg272Cys) rs111033766 0.00001
NM_000157.4(GBA1):c.1102C>T (p.Arg368Cys) rs374306700 0.00001
NM_000158.4(GBE1):c.1229T>G (p.Ile410Arg) rs771405370 0.00001
NM_000158.4(GBE1):c.1300C>T (p.Arg434Ter) rs781198373 0.00001
NM_000158.4(GBE1):c.721A>G (p.Met241Val) rs747155575 0.00001
NM_000181.4(GUSB):c.1881G>T (p.Trp627Cys) rs121918184 0.00001
NM_000195.5(HPS1):c.1940+2T>C rs972096803 0.00001
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys) rs104894640 0.00001
NM_000212.3(ITGB3):c.353T>A (p.Leu118His) rs368325996 0.00001
NM_000215.4(JAK3):c.431A>T (p.Asp144Val) rs1486760100 0.00001
NM_000238.4(KCNH2):c.1474C>T (p.His492Tyr) rs199472910 0.00001
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala) rs63749909 0.00001
NM_000250.2(MPO):c.1495C>T (p.Arg499Cys) rs119469014 0.00001
NM_000250.2(MPO):c.721C>T (p.Gln241Ter) rs754632893 0.00001
NM_000255.4(MMUT):c.257C>T (p.Pro86Leu) rs769348060 0.00001
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys) rs104893750 0.00001
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) rs111033437 0.00001
NM_000263.4(NAGLU):c.2116C>T (p.Gln706Ter) rs752527478 0.00001
NM_000282.4(PCCA):c.1746G>A (p.Ser582=) rs192171304 0.00001
NM_000282.4(PCCA):c.1855C>T (p.Arg619Ter) rs1194679272 0.00001
NM_000334.4(SCN4A):c.1333G>C (p.Val445Leu) rs121908552 0.00001
NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu) rs62654397 0.00001
NM_000350.3(ABCA4):c.2609C>T (p.Pro870Leu) rs746566873 0.00001
NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys) rs61749459 0.00001
NM_000350.3(ABCA4):c.6342G>A (p.Val2114=) rs61748520 0.00001
NM_000352.6(ABCC8):c.3788C>T (p.Ala1263Val) rs772094360 0.00001
NM_000352.6(ABCC8):c.4136G>A (p.Arg1379His) rs193922401 0.00001
NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro) rs72559713 0.00001
NM_000359.3(TGM1):c.2290C>T (p.Arg764Cys) rs201853046 0.00001
NM_000372.5(TYR):c.238T>C (p.Trp80Arg) rs61753188 0.00001
NM_000374.5(UROD):c.138T>A (p.Phe46Leu) rs769378741 0.00001
NM_000391.4(TPP1):c.1093T>C (p.Cys365Arg) rs119455953 0.00001
NM_000392.5(ABCC2):c.2260del (p.Ile754fs) rs1564687941 0.00001
NM_000392.5(ABCC2):c.4145A>G (p.Gln1382Arg) rs72558202 0.00001
NM_000398.7(CYB5R3):c.574C>T (p.Arg192Cys) rs543277216 0.00001
NM_000439.5(PCSK1):c.1625A>G (p.Asp542Gly) rs1327701164 0.00001
NM_000443.4(ABCB4):c.2165G>C (p.Gly722Ala) rs779885518 0.00001
NM_000443.4(ABCB4):c.2177C>T (p.Pro726Leu) rs141677867 0.00001
NM_000454.5(SOD1):c.358G>C (p.Val120Leu) rs1457889952 0.00001
NM_000463.3(UGT1A1):c.1381T>C (p.Trp461Arg) rs1476500325 0.00001
NM_000466.3(PEX1):c.3208-1G>A rs1057517518 0.00001
NM_000478.6(ALPL):c.1444C>A (p.His482Asn) rs780857373 0.00001
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser) rs74315461 0.00001
NM_000487.6(ARSA):c.433C>T (p.Arg145Ter) rs199476373 0.00001
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile) rs397508600 0.00001
NM_000492.4(CFTR):c.869+5G>A rs533959068 0.00001
NM_000492.4(CFTR):c.870-2A>G rs1290078234 0.00001
NM_000497.4(CYP11B1):c.422G>A (p.Arg141Gln) rs267601810 0.00001
NM_000520.6(HEXA):c.1393G>A (p.Asp465Asn) rs750727201 0.00001
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566 0.00001
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro) rs730882098 0.00001
NM_000527.5(LDLR):c.1586G>A (p.Gly529Asp) rs878854025 0.00001
NM_000527.5(LDLR):c.299A>T (p.Asp100Val) rs879254460 0.00001
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp) rs587779337 0.00001
NM_000540.3(RYR1):c.12624+1G>C rs770054352 0.00001
NM_000540.3(RYR1):c.131G>A (p.Arg44His) rs139161723 0.00001
NM_000540.3(RYR1):c.13672C>T (p.Arg4558Trp) rs771741606 0.00001
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130 0.00001
NM_000540.3(RYR1):c.14645C>T (p.Thr4882Met) rs193922884 0.00001
NM_000540.3(RYR1):c.178G>A (p.Asp60Asn) rs118192160 0.00001
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe) rs193922781 0.00001
NM_000540.3(RYR1):c.6664-2A>G rs1346257891 0.00001
NM_000540.3(RYR1):c.7076G>A (p.Arg2359Gln) rs1387126664 0.00001
NM_000540.3(RYR1):c.9157C>T (p.Arg3053Ter) rs1374378105 0.00001
NM_000540.3(RYR1):c.9605C>T (p.Pro3202Leu) rs754002399 0.00001
NM_000540.3(RYR1):c.9623C>T (p.Pro3208Leu) rs758210285 0.00001
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln) rs763566905 0.00001
NM_000545.8(HNF1A):c.626C>A (p.Ala209Glu) rs1286294151 0.00001
NM_000546.6(TP53):c.536A>G (p.His179Arg) rs1057519991 0.00001
NM_000732.6(CD3D):c.274+5G>A rs730880296 0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098 0.00001
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr) rs759003992 0.00001
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=) rs587778796 0.00001
NM_000789.4(ACE):c.59_69del (p.Leu20fs) rs752411292 0.00001
NM_000821.7(GGCX):c.1306C>T (p.Arg436Ter) rs748892794 0.00001
NM_001004334.4(GPR179):c.1429C>T (p.Arg477Ter) rs764877172 0.00001
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp) rs752793757 0.00001
NM_001009944.3(PKD1):c.9562A>G (p.Asn3188Asp) rs1384099162 0.00001
NM_001042432.2(CLN3):c.1A>G (p.Met1Val) rs386833708 0.00001
NM_001044385.3(TMEM237):c.136+1G>T rs778823927 0.00001
NM_001048174.2(MUTYH):c.-6-2A>G rs1383826978 0.00001
NM_001048174.2(MUTYH):c.1102+1G>A rs587781337 0.00001
NM_001077365.2(POMT1):c.697_699del (p.Asn233del) rs761863400 0.00001
NM_001080467.3(MYO5B):c.1202G>A (p.Arg401His) rs1555648414 0.00001
NM_001080476.3(GRXCR1):c.469G>T (p.Glu157Ter) rs774844858 0.00001
NM_001099274.3(TINF2):c.793C>T (p.Arg265Ter) rs200320654 0.00001
NM_001113378.2(FANCI):c.511C>T (p.Gln171Ter) rs771312042 0.00001
NM_001142416.2(AIMP1):c.115C>T (p.Gln39Ter) rs724159969 0.00001
NM_001142864.4(PIEZO1):c.3331C>T (p.Gln1111Ter) rs1161335800 0.00001
NM_001146079.2(CLDN14):c.242G>A (p.Arg81His) rs368027306 0.00001
NM_001159773.2(CANT1):c.896C>T (p.Pro299Leu) rs267606700 0.00001
NM_001164508.2(NEB):c.13130_13131del (p.Met4377fs) rs1490309743 0.00001
NM_001164508.2(NEB):c.25183C>T (p.Arg8395Ter) rs747179265 0.00001
NM_001171.6(ABCC6):c.1484T>A (p.Leu495His) rs72653769 0.00001
NM_001171.6(ABCC6):c.1799G>A (p.Arg600His) rs761433545 0.00001
NM_001182.5(ALDH7A1):c.575C>T (p.Thr192Met) rs376917645 0.00001
NM_001194998.2(CEP152):c.88-2A>G rs537376932 0.00001
NM_001195263.2(PDZD7):c.1655dup (p.Ala553fs) rs1378470761 0.00001
NM_001199107.2(TBC1D24):c.920A>G (p.Asn307Ser) rs761934676 0.00001
NM_001252024.2(TRPM1):c.3148+1G>A rs779821510 0.00001
NM_001256317.3(TMPRSS3):c.727G>A (p.Gly243Arg) rs372526764 0.00001
NM_001267550.2(TTN):c.38737G>T (p.Glu12913Ter) rs767120669 0.00001
NM_001267550.2(TTN):c.80716C>T (p.Arg26906Ter) rs727505284 0.00001
NM_001277115.2(DNAH11):c.4944+1G>A rs878854444 0.00001
NM_001283009.2(RTEL1):c.2614C>T (p.Arg872Ter) rs961593162 0.00001
NM_001358530.2(MOCS1):c.956G>A (p.Arg319Gln) rs104893969 0.00001
NM_001360.3(DHCR7):c.1328G>T (p.Arg443Leu) rs781687341 0.00001
NM_001363711.2(DUOX2):c.4561G>T (p.Gly1521Ter) rs765781255 0.00001
NM_001369.3(DNAH5):c.11029-2A>T rs369312501 0.00001
NM_001369.3(DNAH5):c.9897+1G>C rs914675446 0.00001
NM_001372.4(DNAH9):c.3354-1del rs768238895 0.00001
NM_001372076.1(PAX9):c.271A>G (p.Lys91Glu) rs28933373 0.00001
NM_001374385.1(ATP8B1):c.1799G>A (p.Arg600Gln) rs1202682161 0.00001
NM_001374504.1(TMPRSS6):c.1038C>A (p.Tyr346Ter) rs137853121 0.00001
NM_001377.3(DYNC2H1):c.7577T>G (p.Ile2526Ser) rs762588952 0.00001
NM_001378615.1(CC2D2A):c.4582C>T (p.Arg1528Cys) rs118204052 0.00001
NM_001378778.1(MPDZ):c.1897C>T (p.Arg633Ter) rs200955619 0.00001
NM_001378778.1(MPDZ):c.2882_2885dup (p.Ser963fs) rs747068627 0.00001
NM_001378778.1(MPDZ):c.3359+1G>A rs775394111 0.00001
NM_001384474.1(LOXHD1):c.1021C>T (p.Arg341Ter) rs931911802 0.00001
NM_001386140.1(MTTP):c.1868-2A>G rs760547155 0.00001
NM_001698.3(AUH):c.943-2A>G rs730880312 0.00001
NM_001845.6(COL4A1):c.3187C>T (p.Arg1063Ter) rs1877827904 0.00001
NM_001849.4(COL6A2):c.1396-1G>A rs1331260332 0.00001
NM_002085.5(GPX4):c.536G>A (p.Arg179His) rs763745871 0.00001
NM_002185.5(IL7R):c.265C>T (p.Gln89Ter) rs141698985 0.00001
NM_003060.4(SLC22A5):c.12C>G (p.Tyr4Ter) rs72552722 0.00001
NM_003280.3(TNNC1):c.430A>G (p.Asn144Asp) rs730881061 0.00001
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe) rs398123697 0.00001
NM_003630.3(PEX3):c.288-1G>A rs752904598 0.00001
NM_003742.4(ABCB11):c.1493T>C (p.Ile498Thr) rs752043324 0.00001
NM_003742.4(ABCB11):c.499G>A (p.Ala167Thr) rs139641883 0.00001
NM_004004.6(GJB2):c.246C>G (p.Ile82Met) rs781534323 0.00001
NM_004004.6(GJB2):c.583A>G (p.Met195Val) rs532203068 0.00001
NM_004092.4(ECHS1):c.160C>T (p.Arg54Cys) rs758723288 0.00001
NM_004100.5(EYA4):c.1739-1G>A rs797045088 0.00001
NM_004153.4(ORC1):c.266T>C (p.Phe89Ser) rs387906827 0.00001
NM_004320.6(ATP2A1):c.2322-2A>G rs1964095605 0.00001
NM_004369.4(COL6A3):c.1825C>T (p.Arg609Ter) rs755382829 0.00001
NM_004369.4(COL6A3):c.6890G>C (p.Gly2297Ala) rs886043576 0.00001
NM_004483.5(GCSH):c.1A>G (p.Met1Val) rs886039730 0.00001
NM_004525.3(LRP2):c.10660C>T (p.Arg3554Ter) rs768458485 0.00001
NM_004525.3(LRP2):c.6283C>T (p.Arg2095Ter) rs753549113 0.00001
NM_004569.5(PIGH):c.487C>T (p.Arg163Trp) rs370763975 0.00001
NM_004646.4(NPHS1):c.1019C>A (p.Pro340His) rs386833861 0.00001
NM_004817.4(TJP2):c.1056+2T>C rs1278244243 0.00001
NM_004817.4(TJP2):c.1210G>A (p.Asp404Asn) rs1060499649 0.00001
NM_005051.3(QARS1):c.1132C>T (p.Arg378Cys) rs185476065 0.00001
NM_005097.4(LGI1):c.406C>T (p.Arg136Trp) rs119488099 0.00001
NM_005609.4(PYGM):c.1147G>A (p.Glu383Lys) rs757681143 0.00001
NM_005720.4(ARPC1B):c.899_944del (p.Glu300fs) rs1794611030 0.00001
NM_005732.4(RAD50):c.94dup (p.Thr32fs) rs587781625 0.00001
NM_005908.4(MANBA):c.1622G>A (p.Trp541Ter) rs771865668 0.00001
NM_005912.3(MC4R):c.749T>A (p.Leu250Gln) rs772393451 0.00001
NM_005989.4(AKR1D1):c.580-1G>A rs749744865 0.00001
NM_006019.4(TCIRG1):c.346C>T (p.Gln116Ter) rs1338631330 0.00001
NM_006031.6(PCNT):c.8065-1G>C rs1450352574 0.00001
NM_006231.4(POLE):c.1467_1468del (p.Asp490fs) rs1060500792 0.00001
NM_006231.4(POLE):c.5940G>A (p.Trp1980Ter) rs1470483579 0.00001
NM_006438.5(COLEC10):c.25C>T (p.Arg9Ter) rs149010496 0.00001
NM_006642.5(SDCCAG8):c.546+1G>A rs756907665 0.00001
NM_006767.4(LZTR1):c.1260+1G>A rs143868364 0.00001
NM_006767.4(LZTR1):c.365C>T (p.Ser122Leu) rs587777177 0.00001
NM_006767.4(LZTR1):c.401-2_401-1del rs769200796 0.00001
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln) rs1223430276 0.00001
NM_006907.4(PYCR1):c.213_214del (p.Lys71fs) rs1239327109 0.00001
NM_006907.4(PYCR1):c.797+2T>C rs768235246 0.00001
NM_007055.4(POLR3A):c.2015G>A (p.Gly672Glu) rs267608670 0.00001
NM_007186.6(CEP250):c.3091C>T (p.Gln1031Ter) rs1243282597 0.00001
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322 0.00001
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_007294.4(BRCA1):c.5407-25T>A rs758780152 0.00001
NM_012144.4(DNAI1):c.1019+5G>C rs747121305 0.00001
NM_012210.4(TRIM32):c.388C>T (p.Pro130Ser) rs111033571 0.00001
NM_012434.5(SLC17A5):c.1109_1111+2del rs1767805645 0.00001
NM_012452.3(TNFRSF13B):c.298dup (p.Cys100fs) rs72553878 0.00001
NM_013382.7(POMT2):c.1057G>A (p.Gly353Ser) rs267606970 0.00001
NM_013432.5(TONSL):c.2800C>T (p.Arg934Trp) rs755575416 0.00001
NM_014140.4(SMARCAL1):c.1727del (p.Ile576fs) rs1265248594 0.00001
NM_014236.4(GNPAT):c.1003C>T (p.Arg335Ter) rs777894746 0.00001
NM_014251.3(SLC25A13):c.848+1G>T rs761370420 0.00001
NM_014363.6(SACS):c.434C>G (p.Ser145Ter) rs994374354 0.00001
NM_014625.4(NPHS2):c.416T>G (p.Leu139Arg) rs1345260812 0.00001
NM_015272.5(RPGRIP1L):c.1489G>T (p.Glu497Ter) rs756821449 0.00001
NM_015272.5(RPGRIP1L):c.3121A>T (p.Lys1041Ter) rs1456208953 0.00001
NM_015272.5(RPGRIP1L):c.751C>T (p.Arg251Ter) rs993394322 0.00001
NM_015512.5(DNAH1):c.12339G>A (p.Trp4113Ter) rs767196276 0.00001
NM_015631.6(TCTN3):c.627+1G>A rs1566074908 0.00001
NM_015650.4(TRAF3IP1):c.988-1G>C rs372499275 0.00001
NM_015662.3(IFT172):c.2866C>T (p.Gln956Ter) rs144450109 0.00001
NM_015909.4(NBAS):c.1549C>T (p.Arg517Cys) rs370526257 0.00001
NM_015909.4(NBAS):c.173-2A>G rs138546465 0.00001
NM_016103.4(SAR1B):c.537T>A (p.Ser179Arg) rs28942110 0.00001
NM_016180.5(SLC45A2):c.274A>G (p.Ser92Gly) rs755311638 0.00001
NM_017636.4(TRPM4):c.19G>A (p.Glu7Lys) rs267607142 0.00001
NM_018699.4(PRDM5):c.670A>T (p.Lys224Ter) rs1064794819 0.00001
NM_018972.4(GDAP1):c.311-1G>A rs1370011538 0.00001
NM_019616.4(F7):c.1219G>A (p.Ala407Thr) rs755377592 0.00001
NM_020166.5(MCCC1):c.89+1G>C rs771730236 0.00001
NM_020320.5(RARS2):c.1582_1583dup (p.Leu528fs) rs863224183 0.00001
NM_020631.6(PLEKHG5):c.1289C>A (p.Ser430Ter) rs1443592761 0.00001
NM_020812.4(DOCK6):c.3562C>T (p.Gln1188Ter) rs372751467 0.00001
NM_020937.4(FANCM):c.1879C>T (p.Arg627Ter) rs374626826 0.00001
NM_020937.4(FANCM):c.5221dup (p.Thr1741fs) rs758498345 0.00001
NM_020999.4(NEUROG3):c.319C>A (p.Arg107Ser) rs121917837 0.00001
NM_021008.4(DEAF1):c.671G>A (p.Arg224Gln) rs1415420832 0.00001
NM_022356.4(P3H1):c.1170+5G>C rs72659353 0.00001
NM_024079.5(ALG8):c.981dup (p.Val328fs) rs777686455 0.00001
NM_024105.4(ALG12):c.301G>A (p.Gly101Arg) rs121907933 0.00001
NM_025077.4(TOE1):c.955C>T (p.His319Tyr) rs750266350 0.00001
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter) rs371496675 0.00001
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter) rs567573386 0.00001
NM_032638.5(GATA2):c.1081C>T (p.Arg361Cys) rs1426175410 0.00001
NM_033100.4(CDHR1):c.1342dup (p.Thr448fs) rs750895925 0.00001
NM_033453.4(ITPA):c.519del (p.Asn173fs) rs748042110 0.00001
NM_052844.4(DYNC2I2):c.1061C>T (p.Thr354Met) rs587777092 0.00001
NM_058216.3(RAD51C):c.904+5G>T rs587782702 0.00001
NM_080680.3(COL11A2):c.2554C>T (p.Arg852Ter) rs1387164225 0.00001
NM_138694.4(PKHD1):c.23T>C (p.Leu8Pro) rs750588859 0.00001
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu) rs747322128 0.00001
NM_138694.4(PKHD1):c.9461A>G (p.Asp3154Gly) rs1477456222 0.00001
NM_138711.6(PPARG):c.362A>G (p.Tyr121Cys) rs1354592503 0.00001
NM_139027.6(ADAMTS13):c.577C>T (p.Arg193Trp) rs281875287 0.00001
NM_139119.3(YY1AP1):c.250C>T (p.Gln84Ter) rs1057519599 0.00001
NM_139279.6(MCFD2):c.149+5G>A rs387906286 0.00001
NM_144596.4(TTC8):c.915del (p.Met305fs) rs1431207606 0.00001
NM_144672.4(OTOA):c.399+2T>C rs760573914 0.00001
NM_145207.3(AFG2A):c.1333C>T (p.Arg445Ter) rs879782394 0.00001
NM_145207.3(AFG2A):c.2140C>T (p.Arg714Ter) rs754135389 0.00001
NM_152490.5(B3GALNT2):c.1311+1G>C rs1379052702 0.00001
NM_153240.5(NPHP3):c.1275+3A>T rs370712498 0.00001
NM_153704.6(TMEM67):c.1073C>T (p.Pro358Leu) rs863225232 0.00001
NM_153704.6(TMEM67):c.1845T>A (p.Cys615Ter) rs1258492758 0.00001
NM_153704.6(TMEM67):c.2528A>G (p.Tyr843Cys) rs386834194 0.00001
NM_153816.6(SNX14):c.252C>G (p.Tyr84Ter) rs1171657935 0.00001
NM_170707.4(LMNA):c.832G>A (p.Ala278Thr) rs1553265433 0.00001
NM_170784.3(MKKS):c.29C>A (p.Ser10Ter) rs758356262 0.00001
NM_170784.3(MKKS):c.415C>T (p.Arg139Ter) rs142394051 0.00001
NM_172245.4(CSF2RA):c.787C>T (p.Gln263Ter) rs149151916 0.00001
NM_172250.3(MMAA):c.833G>A (p.Gly278Asp) rs761964238 0.00001
NM_173076.3(ABCA12):c.4541G>A (p.Arg1514His) rs28940270 0.00001
NM_174936.4(PCSK9):c.103G>T (p.Asp35Tyr) rs764603059 0.00001
NM_177550.5(SLC13A5):c.1280C>T (p.Ser427Leu) rs548065551 0.00001
NM_177924.5(ASAH1):c.410A>G (p.Tyr137Cys) rs371666412 0.00001
NM_182548.4(LHFPL5):c.395G>A (p.Trp132Ter) rs756967336 0.00001
NM_194454.3(KRIT1):c.850C>T (p.Arg284Ter) rs374662170 0.00001
NM_198129.4(LAMA3):c.8941C>T (p.Gln2981Ter) rs772038362 0.00001
NM_206538.4(EMC10):c.70C>T (p.Arg24Ter) rs953380956 0.00001
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile) rs780308389 0.00001
NM_207361.6(FREM2):c.2608C>T (p.Gln870Ter) rs750020230 0.00001
NM_212552.3(BOLA3):c.176G>A (p.Cys59Tyr) rs772014561 0.00001
NC_000018.9(TXNL4A):g.77748604_77748637del34 rs786205699
NC_000020.10:g.13448380_13597783del
NM_000016.6(ACADM):c.1018G>A (p.Ala340Thr)
NM_000016.6(ACADM):c.683C>A (p.Thr228Asn) rs149678400
NM_000016.6(ACADM):c.959C>A (p.Ser320Ter) rs1057516485
NM_000017.4(ACADS):c.194_200del (p.Leu65fs)
NM_000017.4(ACADS):c.361-2A>T
NM_000017.4(ACADS):c.682_683del (p.Glu228fs) rs786204691
NM_000017.4(ACADS):c.988_990delinsTGT (p.Arg330Cys) rs796051906
NM_000018.4(ACADVL):c.1077_1077+1delinsCAC rs1057516686
NM_000018.4(ACADVL):c.336_339delinsTTT (p.Phe113fs)
NM_000018.4(ACADVL):c.829_831del (p.Glu277del) rs796051913
NM_000018.4(ACADVL):c.956C>A (p.Ser319Ter) rs149467828
NM_000019.4(ACAT1):c.890C>T (p.Thr297Met) rs886041122
NM_000020.3(ACVRL1):c.1313T>C (p.Met438Thr) rs1555153828
NM_000020.3(ACVRL1):c.1436_1440dup (p.Thr481fs)
NM_000020.3(ACVRL1):c.406_409del (p.Gly136fs) rs863223416
NM_000021.4(PSEN1):c.1156T>A (p.Phe386Ile)
NM_000021.4(PSEN1):c.745A>C (p.Ile249Leu) rs1362575880
NM_000033.4(ABCD1):c.1966T>C (p.Ser656Pro) rs2148399307
NM_000033.4(ABCD1):c.331G>A (p.Val111Met)
NM_000033.4(ABCD1):c.509C>T (p.Ala170Val)
NM_000033.4(ABCD1):c.761C>T (p.Thr254Met) rs1131691743
NM_000033.4(ABCD1):c.839G>A (p.Arg280His) rs781904944
NM_000033.4(ABCD1):c.901-5C>A rs782603062
NM_000035.4(ALDOB):c.113-1G>C rs748663340
NM_000037.4(ANK1):c.1405-9G>A
NM_000037.4(ANK1):c.2461+1G>A
NM_000037.4(ANK1):c.4104+2T>G
NM_000037.4(ANK1):c.530del (p.Leu177fs)
NM_000037.4(ANK1):c.725_744dup (p.Arg249fs)
NM_000038.6(APC):c.4373_4380del (p.Pro1458fs)
NM_000038.6(APC):c.5834del (p.Ala1945fs) rs1766061264
NM_000038.6(APC):c.6150_6151del (p.Lys2052fs) rs1561605508
NM_000038.6(APC):c.7927_7928del (p.Leu2643fs) rs1766600757
NM_000039.3(APOA1):c.548T>C (p.Leu183Pro)
NM_000044.6(AR):c.1103del (p.Pro368fs)
NM_000044.6(AR):c.1616+1_1616+2dup
NM_000044.6(AR):c.2473C>A (p.Gln825Lys)
NM_000046.5(ARSB):c.275C>A (p.Thr92Lys) rs751010538
NM_000051.4(ATM):c.2638+2T>C rs587779826
NM_000051.4(ATM):c.3146dup (p.Leu1049fs) rs1565427961
NM_000051.4(ATM):c.6095+2T>C rs1057516525
NM_000051.4(ATM):c.6115G>A (p.Glu2039Lys) rs864622251
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000051.4(ATM):c.8170C>T (p.Gln2724Ter) rs2086784990
NM_000051.4(ATM):c.8565_8566delinsAA (p.Ser2855_Val2856delinsArgIle) rs587781353
NM_000052.7(ATP7A):c.3930_3933dup (p.Ala1312fs)
NM_000052.7(ATP7A):c.870_871del (p.Ser293fs)
NM_000053.4(ATP7B):c.2939G>A (p.Cys980Tyr) rs1038582488
NM_000054.7(AVPR2):c.579_580del (p.Trp193fs)
NM_000059.4(BRCA2):c.4554_4563delinsCCTACTCTG (p.Glu1518fs)
NM_000059.4(BRCA2):c.7940T>C (p.Leu2647Pro) rs80359021
NM_000059.4(BRCA2):c.8059G>T (p.Val2687Phe) rs80359044
NM_000059.4(BRCA2):c.8378G>A (p.Gly2793Glu) rs80359083
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775
NM_000061.3(BTK):c.975-2A>G
NM_000062.3(SERPING1):c.890-14C>G rs2135318127
NM_000063.6(C2):c.841_849+19del rs9332736
NM_000065.5(C6):c.802C>T (p.Gln268Ter)
NM_000067.3(CA2):c.153T>A (p.Tyr51Ter)
NM_000067.3(CA2):c.232+2T>G
NM_000069.3(CACNA1S):c.2896delinsCT (p.Glu966fs)
NM_000071.3(CBS):c.1306G>T (p.Glu436Ter)
NM_000071.3(CBS):c.209+1G>A rs751464024
NM_000071.3(CBS):c.403_404delinsG (p.Thr135fs) rs1555875325
NM_000071.3(CBS):c.752T>C (p.Leu251Pro) rs1176770868
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[3] (p.Ala4_Pro11dup) rs587780668
NM_000077.5(CDKN2A):c.199G>C (p.Gly67Arg) rs758389471
NM_000077.5(CDKN2A):c.251A>C (p.Asp84Ala) rs587782792
NM_000080.4(CHRNE):c.1072_1091del (p.Pro358fs) rs932032926
NM_000081.4(LYST):c.10127A>G (p.Asn3376Ser) rs80338669
NM_000081.4(LYST):c.1758_1761dup (p.Pro588fs)
NM_000081.4(LYST):c.2720del (p.Leu907fs)
NM_000081.4(LYST):c.4433G>A (p.Trp1478Ter)
NM_000082.4(ERCC8):c.611_616del (p.Thr204_Ala205del) rs2112491212
NM_000083.3(CLCN1):c.697G>A (p.Gly233Ser) rs139039122
NM_000088.4(COL1A1):c.1544del (p.Gly515fs)
NM_000088.4(COL1A1):c.1822-2del
NM_000088.4(COL1A1):c.2282G>A (p.Gly761Asp)
NM_000088.4(COL1A1):c.2579G>A (p.Gly860Glu) rs72653142
NM_000088.4(COL1A1):c.2975G>A (p.Gly992Asp)
NM_000088.4(COL1A1):c.3207+1G>C rs1555572239
NM_000088.4(COL1A1):c.3369+5G>C rs1555572075
NM_000088.4(COL1A1):c.3509del (p.Arg1170fs)
NM_000088.4(COL1A1):c.3553_3555delinsACTCCTGGTCCC (p.Gly1184_Pro1185insThrProGly)
NM_000088.4(COL1A1):c.3665del (p.Asn1222fs)
NM_000088.4(COL1A1):c.3823T>C (p.Trp1275Arg) rs1555571769
NM_000088.4(COL1A1):c.4005+1del
NM_000088.4(COL1A1):c.4067G>T (p.Arg1356Leu) rs149820303
NM_000088.4(COL1A1):c.4237G>A (p.Asp1413Asn) rs72656349
NM_000088.4(COL1A1):c.65_66delinsTT (p.Gly22Val)
NM_000088.4(COL1A1):c.851G>A (p.Gly284Asp)
NM_000088.4(COL1A1):c.904G>C (p.Gly302Arg)
NM_000089.4(COL1A2):c.1217G>A (p.Gly406Asp)
NM_000089.4(COL1A2):c.1865G>T (p.Gly622Val) rs2115921279
NM_000089.4(COL1A2):c.2026G>A (p.Gly676Ser)
NM_000089.4(COL1A2):c.2079+1G>A
NM_000089.4(COL1A2):c.2233G>A (p.Gly745Arg)
NM_000089.4(COL1A2):c.2495G>A (p.Gly832Glu)
NM_000089.4(COL1A2):c.2504G>T (p.Gly835Val)
NM_000089.4(COL1A2):c.2900G>T (p.Gly967Val)
NM_000089.4(COL1A2):c.3160-1G>C
NM_000089.4(COL1A2):c.3161G>T (p.Gly1054Val)
NM_000089.4(COL1A2):c.3277G>T (p.Gly1093Cys)
NM_000089.4(COL1A2):c.794G>T (p.Gly265Val) rs72656386
NM_000089.4(COL1A2):c.947G>A (p.Gly316Asp)
NM_000090.4(COL3A1):c.1609-5_1615del
NM_000090.4(COL3A1):c.1817G>A (p.Gly606Asp)
NM_000090.4(COL3A1):c.2092_2097delinsACTGG (p.Ala698fs)
NM_000090.4(COL3A1):c.3472G>C (p.Gly1158Arg) rs587779715
NM_000090.4(COL3A1):c.3763C>T (p.Arg1255Cys) rs1576473569
NM_000090.4(COL3A1):c.674G>C (p.Gly225Ala) rs587779533
NM_000091.5(COL4A3):c.1060G>A (p.Gly354Arg)
NM_000091.5(COL4A3):c.1132G>A (p.Gly378Arg) rs2125961933
NM_000091.5(COL4A3):c.1364G>T (p.Gly455Val)
NM_000091.5(COL4A3):c.1495G>A (p.Gly499Arg)
NM_000091.5(COL4A3):c.1622G>A (p.Gly541Asp)
NM_000091.5(COL4A3):c.1622G>C (p.Gly541Ala)
NM_000091.5(COL4A3):c.1777G>A (p.Gly593Arg)
NM_000091.5(COL4A3):c.2156C>G (p.Ser719Ter) rs1164505506
NM_000091.5(COL4A3):c.2567G>T (p.Gly856Val)
NM_000091.5(COL4A3):c.2585G>C (p.Gly862Ala)
NM_000091.5(COL4A3):c.2684G>A (p.Gly895Asp) rs1553760558
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1]) rs756539994
NM_000091.5(COL4A3):c.334_337del (p.Gly112fs)
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup) rs1175052474
NM_000091.5(COL4A3):c.4332_4333del (p.Gly1445fs)
NM_000091.5(COL4A3):c.4929-2A>C
NM_000091.5(COL4A3):c.997G>A (p.Gly333Arg) rs761819520
NM_000092.5(COL4A4):c.1099G>A (p.Gly367Ser) rs764981982
NM_000092.5(COL4A4):c.1831G>A (p.Gly611Ser) rs758860164
NM_000092.5(COL4A4):c.2192G>A (p.Gly731Asp)
NM_000092.5(COL4A4):c.2383G>C (p.Gly795Arg)
NM_000092.5(COL4A4):c.2842G>T (p.Gly948Ter) rs2150219679
NM_000092.5(COL4A4):c.3214+2T>A
NM_000092.5(COL4A4):c.3262G>T (p.Gly1088Cys)
NM_000092.5(COL4A4):c.3506G>A (p.Gly1169Asp)
NM_000092.5(COL4A4):c.3514G>A (p.Gly1172Arg)
NM_000092.5(COL4A4):c.3577G>T (p.Gly1193Cys) rs1158350974
NM_000092.5(COL4A4):c.3689G>C (p.Gly1230Ala)
NM_000092.5(COL4A4):c.3704del (p.Pro1235fs) rs754706338
NM_000092.5(COL4A4):c.3791G>T (p.Gly1264Val)
NM_000092.5(COL4A4):c.410G>T (p.Gly137Val)
NM_000092.5(COL4A4):c.4315G>A (p.Gly1439Ser)
NM_000092.5(COL4A4):c.473G>A (p.Gly158Asp)
NM_000092.5(COL4A4):c.870G>A (p.Lys290=) rs2060620860
NM_000093.5(COL5A1):c.2203C>T (p.Gln735Ter)
NM_000093.5(COL5A1):c.2378G>A (p.Gly793Glu)
NM_000093.5(COL5A1):c.4184del (p.Pro1395fs) rs794727760
NM_000094.4(COL7A1):c.448G>A (p.Gly150Arg) rs757715378
NM_000094.4(COL7A1):c.6734G>A (p.Gly2245Asp) rs2107660525
NM_000094.4(COL7A1):c.710_711delinsT (p.Asp237fs)
NM_000094.4(COL7A1):c.8101G>A (p.Gly2701Arg)
NM_000094.4(COL7A1):c.860_872dup (p.Ser291_Val292insTrpTer)
NM_000095.3(COMP):c.1317C>A (p.Asp439Glu)
NM_000096.4(CP):c.1139_1148del (p.Glu380fs)
NM_000096.4(CP):c.1931G>A (p.Trp644Ter)
NM_000098.3(CPT2):c.1741C>T (p.Gln581Ter)
NM_000102.4(CYP17A1):c.675dup (p.Asn226fs) rs1458440922
NM_000110.4(DPYD):c.1340-2A>C
NM_000110.4(DPYD):c.1408C>T (p.Gln470Ter)
NM_000111.3(SLC26A3):c.1416G>A (p.Trp472Ter)
NM_000111.3(SLC26A3):c.1677+1G>A
NM_000112.4(SLC26A2):c.1777G>T (p.Glu593Ter) rs905644652
NM_000113.3(TOR1A):c.748+1G>A
NM_000123.4(ERCC5):c.286del (p.Asp96fs)
NM_000127.3(EXT1):c.1054C>T (p.Gln352Ter)
NM_000127.3(EXT1):c.1118dup (p.Asn373fs)
NM_000127.3(EXT1):c.1464_1465insAC (p.Pro489fs)
NM_000127.3(EXT1):c.301G>T (p.Glu101Ter)
NM_000128.4(F11):c.1136-1G>A
NM_000128.4(F11):c.1577-1G>C
NM_000129.4(F13A1):c.232C>T (p.Arg78Cys)
NM_000132.4(F8):c.2103G>A (p.Met701Ile)
NM_000132.4(F8):c.517C>T (p.Leu173Phe)
NM_000132.4(F8):c.520A>G (p.Thr174Ala)
NM_000132.4(F8):c.5881T>C (p.Trp1961Arg)
NM_000132.4(F8):c.5999-1G>A
NM_000132.4(F8):c.6188-2A>G
NM_000132.4(F8):c.6551A>G (p.Glu2184Gly)
NM_000132.4(F8):c.6576T>A (p.Ser2192Arg)
NM_000132.4(F8):c.787+3A>G rs2073548872
NM_000132.4(F8):c.979C>G (p.Leu327Val) rs1603435395
NM_000133.4(F9):c.1168A>T (p.Ile390Phe)
NM_000133.4(F9):c.457G>A (p.Val153Met)
NM_000133.4(F9):c.464G>C (p.Cys155Ser)
NM_000133.4(F9):c.706_707delinsCT (p.Gly236Leu)
NM_000135.4(FANCA):c.1204G>T (p.Glu402Ter)
NM_000135.4(FANCA):c.2739_2740del (p.His913fs) rs1186669727
NM_000135.4(FANCA):c.2957del (p.Asn986fs)
NM_000135.4(FANCA):c.2994T>G (p.Tyr998Ter)
NM_000135.4(FANCA):c.3164G>A (p.Arg1055Gln) rs1429943036
NM_000135.4(FANCA):c.4096C>T (p.Gln1366Ter) rs1336834251
NM_000136.3(FANCC):c.1155-1G>T
NM_000136.3(FANCC):c.1257dup (p.Thr420fs) rs765551897
NM_000136.3(FANCC):c.346-1G>A rs1484503633
NM_000138.5(FBN1):c.1746C>G (p.Cys582Trp)
NM_000138.5(FBN1):c.2374_2378del (p.Cys792fs)
NM_000138.5(FBN1):c.3332G>T (p.Cys1111Phe)
NM_000138.5(FBN1):c.3554del (p.Gly1185fs)
NM_000138.5(FBN1):c.3713-1_3728delinsC
NM_000138.5(FBN1):c.4172G>T (p.Cys1391Phe) rs1352478541
NM_000138.5(FBN1):c.4516C>A (p.Pro1506Thr)
NM_000138.5(FBN1):c.4688G>A (p.Cys1563Tyr) rs1131691871
NM_000138.5(FBN1):c.6490T>G (p.Cys2164Gly) rs2141240296
NM_000138.5(FBN1):c.7775G>A (p.Cys2592Tyr) rs112118237
NM_000140.5(FECH):c.315-1G>C
NM_000141.5(FGFR2):c.842A>G (p.Tyr281Cys) rs1057519038
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000144.5(FXN):c.493C>T (p.Arg165Cys) rs138034837
NM_000147.5(FUCA1):c.1082G>A (p.Trp361Ter) rs864309551
NM_000147.5(FUCA1):c.699G>A (p.Trp233Ter)
NM_000151.4(G6PC1):c.764C>T (p.Thr255Ile) rs2056092654
NM_000152.5(GAA):c.1933G>T (p.Asp645Tyr) rs368438393
NM_000155.4(GALT):c.292G>C (p.Asp98His) rs111033670
NM_000155.4(GALT):c.328+1G>C
NM_000155.4(GALT):c.508-29del rs111033711
NM_000155.4(GALT):c.568T>C (p.Trp190Arg) rs398123184
NM_000156.6(GAMT):c.24del (p.Ile9fs) rs967689898
NM_000156.6(GAMT):c.439C>T (p.His147Tyr)
NM_000158.4(GBE1):c.1432G>T (p.Glu478Ter)
NM_000158.4(GBE1):c.2053-3358_2053-3350delinsTGTTTTTTACATTACAGGT
NM_000158.4(GBE1):c.216del (p.Tyr73fs) rs2107168870
NM_000158.4(GBE1):c.505del (p.Asp169fs) rs1370223073
NM_000159.4(GCDH):c.561C>A (p.Asp187Glu)
NM_000162.3(GCK):c.-557G>C
NM_000162.5(GCK):c.1151C>T (p.Ala384Val) rs1583591747
NM_000162.5(GCK):c.1174C>T (p.Arg392Cys) rs1167124132
NM_000162.5(GCK):c.1183_1209del (p.Glu395_Arg403del)
NM_000162.5(GCK):c.1255T>C (p.Phe419Leu) rs1554334478
NM_000162.5(GCK):c.566T>C (p.Ile189Thr) rs1554335441
NM_000162.5(GCK):c.786del (p.Ser263fs)
NM_000166.6(GJB1):c.136G>A (p.Asp46Asn)
NM_000168.6(GLI3):c.1028+1G>T
NM_000168.6(GLI3):c.1448_1463dup (p.Arg489fs)
NM_000168.6(GLI3):c.1991C>A (p.Ser664Ter)
NM_000168.6(GLI3):c.2610C>A (p.Cys870Ter)
NM_000168.6(GLI3):c.2664_2676del (p.Asn888fs)
NM_000168.6(GLI3):c.3523del (p.Ser1175fs)
NM_000168.6(GLI3):c.4317C>G (p.Tyr1439Ter)
NM_000168.6(GLI3):c.4621_4625dup (p.Ala1543fs)
NM_000169.3(GLA):c.639+4A>T rs398123215
NM_000169.3(GLA):c.782del (p.Gly261fs) rs869312400
NM_000169.3(GLA):c.994del (p.Arg332fs) rs869312458
NM_000170.3(GLDC):c.24G>A (p.Trp8Ter) rs1163356968
NM_000173.7(GP1BA):c.169A>G (p.Asn57Asp) rs2151107705
NM_000173.7(GP1BA):c.171C>A (p.Asn57Lys) rs1597638398
NM_000178.4(GSS):c.706dup (p.Arg236fs)
NM_000179.3(MSH6):c.1754T>C (p.Leu585Pro) rs587779220
NM_000179.3(MSH6):c.1993G>T (p.Glu665Ter) rs1333555322
NM_000179.3(MSH6):c.2087_2093del (p.Ile696fs) rs1114167733
NM_000179.3(MSH6):c.3577G>A (p.Glu1193Lys) rs63751328
NM_000182.5(HADHA):c.1528G>T (p.Glu510Ter) rs137852769
NM_000183.3(HADHB):c.198_205dup (p.Thr69fs)
NM_000186.4(CFH):c.213G>A (p.Trp71Ter) rs1210674261
NM_000187.4(HGD):c.532G>T (p.Glu178Ter) rs1941184654
NM_000193.4(SHH):c.592T>A (p.Cys198Ser)
NM_000195.5(HPS1):c.233_242del (p.Asn78fs) rs773323079
NM_000198.4(HSD3B2):c.308-1G>C
NM_000202.8(IDS):c.353C>T (p.Thr118Ile)
NM_000203.5(IDUA):c.1276_1282dup (p.Gln428fs) rs1445719596
NM_000203.5(IDUA):c.298A>G (p.Arg100Gly)
NM_000203.5(IDUA):c.403dup (p.Ser135fs)
NM_000204.5(CFI):c.1458G>A (p.Trp486Ter) rs1723935867
NM_000207.3(INS):c.136C>T (p.Arg46Ter)
NM_000207.3(INS):c.284G>A (p.Cys95Tyr)
NM_000208.4(INSR):c.595dup (p.Thr199fs)
NM_000209.4(PDX1):c.653del (p.Gly218fs)
NM_000211.5(ITGB2):c.116del (p.Ser39fs)
NM_000213.5(ITGB4):c.4305del (p.Gly1439fs)
NM_000213.5(ITGB4):c.4392del (p.Ser1465fs)
NM_000214.3(JAG1):c.1720G>C (p.Val574Leu) rs2067320699
NM_000214.3(JAG1):c.172dup (p.Ala58fs)
NM_000214.3(JAG1):c.1871delinsGA (p.Thr624fs)
NM_000214.3(JAG1):c.2006del (p.Asn669fs)
NM_000214.3(JAG1):c.2270del (p.Gly757fs)
NM_000214.3(JAG1):c.2493dup (p.Gly832fs)
NM_000214.3(JAG1):c.2999dup (p.Ala1001fs)
NM_000214.3(JAG1):c.3153del (p.Val1052fs)
NM_000214.3(JAG1):c.3186dup (p.Lys1063fs)
NM_000214.3(JAG1):c.596del (p.Phe199fs)
NM_000214.3(JAG1):c.756-83_780del
NM_000218.3(KCNQ1):c.1066_1071del (p.Gln356_Gln357del) rs397508073
NM_000228.3(LAMB3):c.1702C>T (p.Gln568Ter) rs1571810782
NM_000229.2(LCAT):c.160G>A (p.Gly54Ser)
NM_000233.4(LHCGR):c.29T>C (p.Leu10Pro)
NM_000233.4(LHCGR):c.32T>C (p.Leu11Pro)
NM_000238.4(KCNH2):c.2536C>T (p.Pro846Ser) rs199473006
NM_000249.4(MLH1):c.1029C>G (p.Tyr343Ter) rs1553648220
NM_000249.4(MLH1):c.1039-2A>G rs267607815
NM_000249.4(MLH1):c.1438_1439del (p.Glu480fs)
NM_000249.4(MLH1):c.1616C>A (p.Ala539Asp) rs267607843
NM_000249.4(MLH1):c.970del (p.Glu324fs) rs876658247
NM_000250.2(MPO):c.1555_1568del (p.Met519fs) rs536522394
NM_000254.3(MTR):c.2474A>G (p.Asp825Gly)
NM_000254.3(MTR):c.3356dup (p.Asp1119fs)
NM_000256.3(MYBPC3):c.2957_2958insT (p.Lys986fs)
NM_000256.3(MYBPC3):c.709T>C (p.Tyr237His) rs730880624
NM_000257.4(MYH7):c.1981A>C (p.Asn661His) rs2138670306
NM_000257.4(MYH7):c.2129C>T (p.Pro710Leu) rs727504272
NM_000257.4(MYH7):c.5134C>T (p.Arg1712Trp) rs121913650
NM_000260.4(MYO7A):c.2507_2508del (p.Arg836fs)
NM_000260.4(MYO7A):c.5488dup (p.Glu1830fs) rs1555105135
NM_000260.4(MYO7A):c.6082A>T (p.Lys2028Ter)
NM_000260.4(MYO7A):c.689C>T (p.Ala230Val) rs797044512
NM_000260.4(MYO7A):c.730C>T (p.Arg244Cys)
NM_000263.4(NAGLU):c.214_237dup (p.Ala72_Gly79dup) rs1567890245
NM_000263.4(NAGLU):c.397C>T (p.Gln133Ter)
NM_000263.4(NAGLU):c.430TGG[1] (p.Trp145del)
NM_000264.5(PTCH1):c.2265_2268del (p.Leu756fs) rs1840113211
NM_000264.5(PTCH1):c.3063C>G (p.Tyr1021Ter)
NM_000264.5(PTCH1):c.649del (p.Asp217fs)
NM_000271.5(NPC1):c.1955C>G (p.Ser652Trp)
NM_000271.5(NPC1):c.3100G>A (p.Gly1034Arg) rs2058637844
NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr) rs1338658857
NM_000271.5(NPC1):c.3592-7_3592-3del rs760935117
NM_000271.5(NPC1):c.3611_3614del (p.Leu1204fs) rs786200879
NM_000273.3(GPR143):c.3G>T (p.Met1Ile)
NM_000275.3(OCA2):c.1923del (p.Phe642fs)
NM_000275.3(OCA2):c.2032_2039delinsTAG (p.Glu678_Ala680delinsTer)
NM_000275.3(OCA2):c.2224_2237del (p.Ile742fs)
NM_000275.3(OCA2):c.287A>C (p.Glu96Ala)
NM_000277.3(PAH):c.668A>T (p.Asn223Ile) rs201245932
NM_000278.5(PAX2):c.115C>T (p.Gln39Ter)
NM_000278.5(PAX2):c.182G>T (p.Ser61Ile)
NM_000278.5(PAX2):c.71G>C (p.Gly24Ala) rs201239919
NM_000285.4(PEPD):c.818+2T>G
NM_000286.3(PEX12):c.334C>T (p.Gln112Ter) rs776731688
NM_000286.3(PEX12):c.460C>T (p.Arg154Ter) rs1555549855
NM_000286.3(PEX12):c.569C>G (p.Ser190Ter)
NM_000287.4(PEX6):c.170T>C (p.Leu57Pro) rs61752140
NM_000292.3(PHKA2):c.1144dup (p.Glu382fs) rs1601748177
NM_000295.5(SERPINA1):c.221T>A (p.Ile74Asn)
NM_000295.5(SERPINA1):c.866dup (p.Asn289fs) rs1555368557
NM_000297.4(PKD2):c.1548_1548+2del
NM_000297.4(PKD2):c.843G>A (p.Lys281=) rs1727333486
NM_000298.6(PKLR):c.1010G>C (p.Arg337Pro)
NM_000298.6(PKLR):c.1174G>A (p.Ala392Thr) rs1403323591
NM_000298.6(PKLR):c.1241C>G (p.Pro414Arg)
NM_000298.6(PKLR):c.602G>T (p.Trp201Leu)
NM_000301.5(PLG):c.1265dup (p.Met423fs)
NM_000302.4(PLOD1):c.1202+2T>A
NM_000302.4(PLOD1):c.1293del (p.Glu432fs)
NM_000303.3(PMM2):c.190del (p.Tyr64fs) rs1339004837
NM_000303.3(PMM2):c.385G>T (p.Val129Leu) rs104894525
NM_000303.3(PMM2):c.59C>T (p.Pro20Leu)
NM_000304.4(PMP22):c.320G>A (p.Gly107Asp)
NM_000310.4(PPT1):c.18_21del (p.Leu7fs) rs1553167863
NM_000312.4(PROC):c.679-2A>G
NM_000314.8(PTEN):c.1006del (p.Tyr336fs)
NM_000314.8(PTEN):c.196A>T (p.Lys66Ter) rs1554897271
NM_000314.8(PTEN):c.210-2A>C rs1564828914
NM_000314.8(PTEN):c.826_829dup (p.Thr277fs)
NM_000317.3(PTS):c.245A>G (p.Glu82Gly)
NM_000317.3(PTS):c.256C>T (p.Gln86Ter)
NM_000321.3(RB1):c.1421+1G>T
NM_000325.6(PITX2):c.308A>G (p.Gln103Arg)
NM_000326.5(RLBP1):c.462T>A (p.Tyr154Ter)
NM_000334.4(SCN4A):c.118C>T (p.Gln40Ter)
NM_000334.4(SCN4A):c.469del (p.Ser157fs)
NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser) rs137854609
NM_000335.5(SCN5A):c.4780G>A (p.Asp1594Asn) rs137854607
NM_000336.3(SCNN1B):c.1174C>T (p.Gln392Ter)
NM_000336.3(SCNN1B):c.720C>A (p.Tyr240Ter)
NM_000338.3(SLC12A1):c.1300G>A (p.Gly434Arg)
NM_000338.3(SLC12A1):c.3130C>T (p.Gln1044Ter)
NM_000338.3(SLC12A1):c.590_599del (p.Phe197fs)
NM_000340.2(SLC2A2):c.112ATA[1] (p.Ile39del) rs772999215
NM_000340.2(SLC2A2):c.30_36delinsATTTTA (p.Val11fs)
NM_000340.2(SLC2A2):c.557del (p.Gly186fs)
NM_000340.2(SLC2A2):c.7G>T (p.Glu3Ter)
NM_000342.4(SLC4A1):c.1228del (p.Ile410fs)
NM_000342.4(SLC4A1):c.1596_1605delinsT (p.Ile533_Glu535del)
NM_000342.4(SLC4A1):c.1801-2A>G rs2144607086
NM_000343.4(SLC5A1):c.1577dup (p.Tyr526Ter)
NM_000343.4(SLC5A1):c.200G>A (p.Trp67Ter)
NM_000343.4(SLC5A1):c.475T>C (p.Ser159Pro)
NM_000346.4(SOX9):c.1037del (p.Pro346fs)
NM_000346.4(SOX9):c.331G>A (p.Ala111Thr) rs1425166755
NM_000346.4(SOX9):c.66del (p.Ser23fs)
NM_000346.4(SOX9):c.790A>T (p.Arg264Ter)
NM_000346.4(SOX9):c.876_877delinsGTCA (p.Asn292fs)
NM_000346.4(SOX9):c.987del (p.Ser330fs)
NM_000349.3(STAR):c.367G>A (p.Glu123Lys)
NM_000350.3(ABCA4):c.4128G>A (p.Gln1376=) rs1064797113
NM_000350.3(ABCA4):c.769-784C>T
NM_000352.6(ABCC8):c.1421A>G (p.Gln474Arg) rs1591834223
NM_000352.6(ABCC8):c.19G>C (p.Gly7Arg)
NM_000352.6(ABCC8):c.4538T>C (p.Met1513Thr)
NM_000352.6(ABCC8):c.4613G>A (p.Arg1538Gln) rs1564869850
NM_000355.4(TCN2):c.344del (p.Asn115fs)
NM_000359.3(TGM1):c.1147G>A (p.Val383Met) rs121918722
NM_000363.5(TNNI3):c.611G>A (p.Arg204His) rs727504275
NM_000368.5(TSC1):c.2824C>T (p.Gln942Ter)
NM_000368.5(TSC1):c.913G>C (p.Gly305Arg)
NM_000369.5(TSHR):c.1657G>A (p.Ala553Thr) rs121908872
NM_000369.5(TSHR):c.267_270delinsTCCT (p.Gln90Pro) rs1064794318
NM_000369.5(TSHR):c.305_306del (p.Lys102fs)
NM_000369.5(TSHR):c.406_407del (p.Thr136fs)
NM_000372.5(TYR):c.1037-3C>G
NM_000372.5(TYR):c.272G>T (p.Cys91Phe)
NM_000372.5(TYR):c.[1205G>A;575C>A]
NM_000374.5(UROD):c.942G>A (p.Glu314=) rs121918062
NM_000377.3(WAS):c.134C>G (p.Thr45Arg)
NM_000381.4(MID1):c.1538_1605dup (p.Ile536delinsProArgArgValThrHisLeuAsnAlaSerProAlaArgGlyAlaMetGluTer)
NM_000382.3(ALDH3A2):c.1339A>G (p.Lys447Glu)
NM_000382.3(ALDH3A2):c.520del (p.Leu173_Leu174insTer)
NM_000384.3(APOB):c.10186G>A (p.Ala3396Thr) rs1553383017
NM_000384.3(APOB):c.12460G>T (p.Glu4154Ter)
NM_000384.3(APOB):c.13028_13029del (p.Tyr4343fs) rs760832994
NM_000384.3(APOB):c.3000-1G>A
NM_000388.4(CASR):c.1288G>A (p.Ala430Thr) rs201520875
NM_000388.4(CASR):c.1733-2A>C
NM_000388.4(CASR):c.2089G>A (p.Val697Met)
NM_000388.4(CASR):c.2244delinsCC (p.Ser749fs) rs1553769059
NM_000388.4(CASR):c.2282T>A (p.Ile761Asn)
NM_000388.4(CASR):c.354C>G (p.Asn118Lys)
NM_000388.4(CASR):c.398A>T (p.Glu133Val)
NM_000388.4(CASR):c.413C>T (p.Thr138Met) rs121909263
NM_000388.4(CASR):c.517C>T (p.Leu173Phe)
NM_000392.5(ABCC2):c.2153del (p.Asn718fs)
NM_000392.5(ABCC2):c.3414+1G>A rs781481868
NM_000392.5(ABCC2):c.3687_3690del (p.Ile1228_Tyr1229insTer)
NM_000392.5(ABCC2):c.3741+1G>A rs34937870
NM_000392.5(ABCC2):c.4144C>T (p.Gln1382Ter)
NM_000392.5(ABCC2):c.633-1G>A
NM_000393.5(COL5A2):c.1563+2T>G
NM_000395.3(CSF2RB):c.1090C>T (p.Arg364Ter)
NM_000400.4(ERCC2):c.1758+1G>T
NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln) rs376556895
NM_000414.4(HSD17B4):c.434+1G>C rs2126696991
NM_000414.4(HSD17B4):c.868+1del rs749532705
NM_000419.5(ITGA2B):c.1296_1311del (p.Arg433fs)
NM_000419.5(ITGA2B):c.1788del (p.Ile596fs)
NM_000424.4(KRT5):c.434T>G (p.Val145Gly)
NM_000424.4(KRT5):c.974T>C (p.Leu325Pro) rs58107458
NM_000424.4(KRT5):c.980T>C (p.Met327Thr) rs58072617
NM_000424.4(KRT5):c.992G>A (p.Arg331His) rs56729325
NM_000426.4(LAMA2):c.4689G>A (p.Trp1563Ter)
NM_000428.3(LTBP2):c.5233_5249del (p.Asn1745fs)
NM_000430.4(PAFAH1B1):c.193-1G>A
NM_000430.4(PAFAH1B1):c.559dup (p.Thr187fs)
NM_000431.4(MVK):c.545T>A (p.Leu182Ter) rs1566147222
NM_000433.4(NCF2):c.922C>T (p.Gln308Ter)
NM_000435.3(NOTCH3):c.1759C>T (p.Arg587Cys) rs754554486
NM_000435.3(NOTCH3):c.208G>T (p.Gly70Cys)
NM_000435.3(NOTCH3):c.2129A>G (p.Tyr710Cys)
NM_000435.3(NOTCH3):c.5115-12_5137del
NM_000435.3(NOTCH3):c.548G>T (p.Cys183Phe) rs1568361851
NM_000436.4(OXCT1):c.873dup (p.Ala292fs)
NM_000439.5(PCSK1):c.125G>A (p.Gly42Asp)
NM_000440.3(PDE6A):c.1250_1253dup (p.Leu419fs)
NM_000441.2(SLC26A4):c.1437+2T>G rs397516418
NM_000443.4(ABCB4):c.1119+2T>C
NM_000443.4(ABCB4):c.1216C>T (p.Arg406Ter)
NM_000443.4(ABCB4):c.2395-1G>A
NM_000443.4(ABCB4):c.3257A>C (p.Tyr1086Ser) rs745972631
NM_000443.4(ABCB4):c.3370dup (p.Cys1124fs)
NM_000443.4(ABCB4):c.3486+1G>C
NM_000444.6(PHEX):c.1075_1076del (p.Lys359fs)
NM_000444.6(PHEX):c.1559G>A (p.Trp520Ter)
NM_000448.3(RAG1):c.2327G>A (p.Arg776Gln)
NM_000451.4(SHOX):c.461T>C (p.Leu154Pro)
NM_000453.3(SLC5A5):c.176T>A (p.Val59Glu)
NM_000454.5(SOD1):c.256G>A (p.Gly86Ser) rs121912436
NM_000454.5(SOD1):c.69G>C (p.Gln23His) rs1424217272
NM_000458.4(HNF1B):c.1237del (p.Val413fs)
NM_000458.4(HNF1B):c.1354C>T (p.Gln452Ter)
NM_000458.4(HNF1B):c.493C>T (p.Arg165Cys)
NM_000458.4(HNF1B):c.904A>G (p.Asn302Asp)
NM_000463.3(UGT1A1):c.625C>T (p.Arg209Trp) rs72551343
NM_000466.3(PEX1):c.2114T>G (p.Leu705Trp) rs863225084
NM_000466.3(PEX1):c.2922del (p.Leu974fs) rs762324548
NM_000466.3(PEX1):c.3507del (p.Gln1169fs)
NM_000474.4(TWIST1):c.454G>C (p.Ala152Pro)
NM_000478.6(ALPL):c.1010A>G (p.Asp337Gly) rs1219494274
NM_000478.6(ALPL):c.1022A>T (p.His341Leu)
NM_000478.6(ALPL):c.1034C>T (p.Ala345Val) rs1644719715
NM_000478.6(ALPL):c.247G>T (p.Glu83Ter) rs2148152544
NM_000478.6(ALPL):c.416G>A (p.Cys139Tyr)
NM_000478.6(ALPL):c.61+2T>G rs764322898
NM_000487.6(ARSA):c.1399C>T (p.Gln467Ter)
NM_000487.6(ARSA):c.1468T>C (p.Cys490Arg) rs755974448
NM_000488.4(SERPINC1):c.189dup (p.Glu64Ter)
NM_000488.4(SERPINC1):c.769T>C (p.Trp257Arg)
NM_000489.6(ATRX):c.4620TGAAGA[1] (p.1540DE[1]) rs797045406
NM_000489.6(ATRX):c.4845C>A (p.Asp1615Glu)
NM_000489.6(ATRX):c.5315C>A (p.Ser1772Tyr)
NM_000490.5(AVP):c.275G>A (p.Cys92Tyr) rs121964891
NM_000492.4(CFTR):c.1680-877G>T rs397508261
NM_000492.4(CFTR):c.1763A>T (p.Glu588Val) rs397508297
NM_000492.4(CFTR):c.580G>A (p.Gly194Arg) rs376008630
NM_000493.4(COL10A1):c.1662T>A (p.Phe554Leu)
NM_000494.4(COL17A1):c.2081del (p.Pro694fs)
NM_000494.4(COL17A1):c.3766+1G>A rs2086256572
NM_000495.4(COL4A5):c.1168delG
NM_000495.4(COL4A5):c.142_143dupGG
NM_000497.4(CYP11B1):c.1112A>G (p.Glu371Gly) rs368944209
NM_000500.9(CYP21A2):c.1160C>T (p.Pro387Leu)
NM_000501.4(ELN):c.1859-2A>T
NM_000501.4(ELN):c.2070dup (p.Gln691fs)
NM_000501.4(ELN):c.684T>A (p.Tyr228Ter)
NM_000506.5(F2):c.454_457del (p.Leu152fs)
NM_000512.5(GALNS):c.1228G>T (p.Glu410Ter) rs1567519109
NM_000512.5(GALNS):c.239C>T (p.Ser80Leu) rs1209154325
NM_000512.5(GALNS):c.817C>T (p.Gln273Ter) rs2143001165
NM_000515.5(GH1):c.172G>A (p.Glu58Lys) rs2144739391
NM_000516.7(GNAS):c.420del (p.Phe140fs)
NM_000516.7(GNAS):c.446A>G (p.His149Arg) rs2146208770
NM_000516.7(GNAS):c.575C>T (p.Pro192Leu) rs2091273769
NM_000516.7(GNAS):c.666dup (p.Asp223Ter)
NM_000525.4(KCNJ11):c.119G>A (p.Gly40Asp) rs1001873841
NM_000527.4(LDLR):c.-140C>T rs875989887
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
NM_000527.5(LDLR):c.1721G>A (p.Arg574His)
NM_000527.5(LDLR):c.1823C>A (p.Pro608His)
NM_000527.5(LDLR):c.2407_2424del (p.Cys803_Leu808del) rs879255201
NM_000527.5(LDLR):c.313+3A>C rs1064793799
NM_000527.5(LDLR):c.669_680dup (p.Ser226_Asp227insGluAspLysSer) rs879254626
NM_000527.5(LDLR):c.938_939delinsAT (p.Cys313Tyr) rs875989910
NM_000527.5(LDLR):c.960del (p.Asp320fs)
NM_000528.4(MAN2B1):c.2802dup (p.Val935fs) rs1057516864
NM_000530.8(MPZ):c.233C>G (p.Ser78Trp) rs121913601
NM_000530.8(MPZ):c.434_437del (p.Tyr145fs) rs1553259643
NM_000531.6(OTC):c.788A>G (p.Asp263Gly) rs72558443
NM_000532.5(PCCB):c.1478del (p.Pro493fs)
NM_000532.5(PCCB):c.183+3G>C rs398123461
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs) rs587779335
NM_000535.7(PMS2):c.2275+2T>C rs1562604682
NM_000535.7(PMS2):c.2531C>A (p.Pro844His) rs587782787
NM_000540.3(RYR1):c.10501dup (p.Asp3501fs) rs1568537774
NM_000540.3(RYR1):c.10627-1G>C rs1568539909
NM_000540.3(RYR1):c.10725_10726del (p.Tyr3576fs) rs1555790936
NM_000540.3(RYR1):c.11320del (p.Ala3774fs) rs768698639
NM_000540.3(RYR1):c.11360-1_11374del rs1568549310
NM_000540.3(RYR1):c.11929C>T (p.Gln3977Ter) rs1447117024
NM_000540.3(RYR1):c.11958C>G (p.Asp3986Glu) rs193922842
NM_000540.3(RYR1):c.12063_12064dup (p.Met4022fs) rs1419938249
NM_000540.3(RYR1):c.12113dup (p.Met4038fs) rs1568562752
NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter) rs772494345
NM_000540.3(RYR1):c.12533G>T (p.Gly4178Val) rs1568576165
NM_000540.3(RYR1):c.12727G>A (p.Glu4243Lys) rs1555799628
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys) rs193922748
NM_000540.3(RYR1):c.13260del (p.Asp4421fs) rs1568583900
NM_000540.3(RYR1):c.13836G>A (p.Trp4612Ter) rs1568593747
NM_000540.3(RYR1):c.13892A>G (p.Tyr4631Cys) rs1568593922
NM_000540.3(RYR1):c.14416A>G (p.Asn4806Asp) rs886039586
NM_000540.3(RYR1):c.14458G>A (p.Gly4820Arg) rs193922873
NM_000540.3(RYR1):c.14539G>C (p.Val4847Leu) rs1568605042
NM_000540.3(RYR1):c.14545_14571dup (p.Val4849_Phe4857dup) rs1568605049
NM_000540.3(RYR1):c.14555A>G (p.Tyr4852Cys) rs886042826
NM_000540.3(RYR1):c.14558C>T (p.Thr4853Ile) rs1555803922
NM_000540.3(RYR1):c.14659C>T (p.His4887Tyr) rs118192147
NM_000540.3(RYR1):c.14690G>A (p.Gly4897Asp) rs118192148
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del) rs1064794572
NM_000540.3(RYR1):c.14773GTCATC[1] (p.4925VI[1]) rs193922893
NM_000540.3(RYR1):c.14801A>G (p.Gln4934Arg) rs1568611775
NM_000540.3(RYR1):c.14807T>G (p.Leu4936Arg) rs1568613061
NM_000540.3(RYR1):c.14815G>A (p.Asp4939Asn) rs760010175
NM_000540.3(RYR1):c.14817C>G (p.Asp4939Glu) rs193922895
NM_000540.3(RYR1):c.14822T>G (p.Phe4941Cys) rs1568613113
NM_000540.3(RYR1):c.14938_14939del (p.Thr4980fs) rs1568613455
NM_000540.3(RYR1):c.15016G>A (p.Gly5006Ser) rs1568614042
NM_000540.3(RYR1):c.1993del (p.Glu664_Val665insTer) rs1568451320
NM_000540.3(RYR1):c.2195del (p.Pro732fs) rs1568452917
NM_000540.3(RYR1):c.2682G>A (p.Pro894=) rs919322708
NM_000540.3(RYR1):c.3046C>T (p.Arg1016Ter) rs759085500
NM_000540.3(RYR1):c.3805del (p.Leu1269fs) rs1568469505
NM_000540.3(RYR1):c.4343G>A (p.Trp1448Ter)
NM_000540.3(RYR1):c.4707+1G>A rs1568480914
NM_000540.3(RYR1):c.4789C>T (p.Gln1597Ter) rs1568481364
NM_000540.3(RYR1):c.6127+1G>A rs1283302989
NM_000540.3(RYR1):c.6488G>C (p.Arg2163Pro) rs118192163
NM_000540.3(RYR1):c.6488G>T (p.Arg2163Leu) rs118192163
NM_000540.3(RYR1):c.6628G>T (p.Val2210Phe) rs193922792
NM_000540.3(RYR1):c.7123G>A (p.Gly2375Arg) rs1568501059
NM_000540.3(RYR1):c.7373G>T (p.Arg2458Leu) rs121918594
NM_000540.3(RYR1):c.7463_7475del (p.Pro2488fs) rs794727683
NM_000540.3(RYR1):c.7543C>T (p.Gln2515Ter) rs1568503046
NM_000540.3(RYR1):c.8018del (p.His2673fs) rs1568509739
NM_000540.3(RYR1):c.8693-1G>A rs1568514017
NM_000540.3(RYR1):c.9001-2A>G rs774119942
NM_000540.3(RYR1):c.9310G>A (p.Glu3104Lys) rs193922832
NM_000540.3(RYR1):c.958G>A (p.Glu320Lys) rs1568440962
NM_000542.5(SFTPB):c.268-2del
NM_000542.5(SFTPB):c.583-1G>T
NM_000543.5(SMPD1):c.1091G>A (p.Arg364Lys)
NM_000543.5(SMPD1):c.1145_1146del (p.Leu382fs) rs1057516432
NM_000543.5(SMPD1):c.1547A>G (p.His516Arg) rs754979734
NM_000543.5(SMPD1):c.28C>T (p.Gln10Ter) rs1205990349
NM_000545.8(HNF1A):c.1768+2T>G
NM_000545.8(HNF1A):c.429C>G (p.His143Gln) rs2135832689
NM_000545.8(HNF1A):c.694_696delinsGG (p.Leu232fs)
NM_000545.8(HNF1A):c.710A>G (p.Asn237Ser) rs1555211935
NM_000545.8(HNF1A):c.864del (p.Pro291fs) rs762703502
NM_000548.5(TSC2):c.1283_1285del (p.Ser428del) rs137853983
NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp) rs397514914
NM_000548.5(TSC2):c.2639+5G>C
NM_000548.5(TSC2):c.2809_2816delinsGTC (p.Ser937fs)
NM_000548.5(TSC2):c.2957dup (p.Val987fs) rs2089598055
NM_000548.5(TSC2):c.3695_3700delinsTA (p.Ser1232fs)
NM_000548.5(TSC2):c.4493G>C (p.Ser1498Thr) rs137854879
NM_000548.5(TSC2):c.910T>C (p.Trp304Arg) rs397515108
NM_000550.3(TYRP1):c.919G>A (p.Glu307Lys)
NM_000551.4(VHL):c.191G>C (p.Arg64Pro) rs104893826
NM_000551.4(VHL):c.273del (p.Phe91fs) rs1559426047
NM_000551.4(VHL):c.344A>C (p.His115Pro) rs5030812
NM_000551.4(VHL):c.371C>T (p.Thr124Ile) rs193922610
NM_000552.5(VWF):c.1339del (p.Arg447fs) rs1591895308
NM_000552.5(VWF):c.257T>A (p.Val86Glu)
NM_000552.5(VWF):c.3614G>T (p.Arg1205Leu) rs121964895
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln) rs61749370
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.5(VWF):c.3943C>T (p.Arg1315Cys) rs61749395
NM_000552.5(VWF):c.50dup (p.Leu17fs) rs751286556
NM_000552.5(VWF):c.7660del (p.Val2554fs)
NM_000553.6(WRN):c.3244del (p.Val1082fs) rs745905108
NM_000554.6(CRX):c.761_804dup (p.Phe269fs)
NM_000557.5(GDF5):c.1420A>T (p.Ile474Phe)
NM_000574.5(CD55):c.101-2A>C
NM_000574.5(CD55):c.286+1G>A rs376304458
NM_000574.5(CD55):c.517C>T (p.Gln173Ter)
NM_000587.4(C7):c.1204C>T (p.Arg402Ter)
NM_000587.4(C7):c.253del (p.Cys85fs)
NM_000666.3(ACY1):c.517del (p.Leu173fs)
NM_000702.4(ATP1A2):c.1216+1G>A
NM_000702.4(ATP1A2):c.2285-1G>A
NM_000702.4(ATP1A2):c.262del (p.Val88fs)
NM_000718.4(CACNA1B):c.3968+1G>A
NM_000719.7(CACNA1C):c.15_16del (p.Thr6fs) rs786205782
NM_000719.7(CACNA1C):c.3946-43del
NM_000760.4(CSF3R):c.218dup (p.Arg74fs) rs765536522
NM_000782.5(CYP24A1):c.1430_1434+11del
NM_000784.4(CYP27A1):c.1005del (p.Gly336fs) rs1575206357
NM_000784.4(CYP27A1):c.1436G>A (p.Arg479His) rs199638075
NM_000789.4(ACE):c.1225dup (p.Arg409fs)
NM_000789.4(ACE):c.1511del (p.Pro504fs)
NM_000789.4(ACE):c.187C>T (p.Gln63Ter)
NM_000807.4(GABRA2):c.883A>T (p.Thr295Ser)
NM_000821.7(GGCX):c.1297_1298del (p.Gln433fs)
NM_000827.4(GRIA1):c.848G>A (p.Trp283Ter)
NM_000828.5(GRIA3):c.2396G>T (p.Trp799Leu)
NM_000834.5(GRIN2B):c.1556G>A (p.Arg519Gln)
NM_000834.5(GRIN2B):c.2806G>T (p.Glu936Ter)
NM_000834.5(GRIN2B):c.845A>G (p.Tyr282Cys)
NM_000875.5(IGF1R):c.2881_2884del (p.Lys961fs)
NM_000891.3(KCNJ2):c.934C>T (p.Arg312Cys) rs199473389
NM_000892.5(KLKB1):c.1004del (p.Leu335fs)
NM_000892.5(KLKB1):c.1204_1205del (p.Trp402fs) rs768319200
NM_000937.5(POLR2A):c.3950AGA[2] (p.Lys1319del)
NM_000939.4(POMC):c.20_21insGGGCCCTCGGGGGCCCCTCGGGTGG (p.Ser7fs) rs746815510
NM_000939.4(POMC):c.260del (p.Phe87fs)
NM_000969.5(RPL5):c.89_107del (p.Tyr30fs)
NM_000977.4(RPL13):c.548G>A (p.Arg183His) rs1597676540
NM_001001548.3(CD36):c.1047_1051dup (p.Pro351fs)
NM_001001548.3(CD36):c.1150_1152delinsCC (p.Ala384fs)
NM_001001548.3(CD36):c.1200-7_1208del
NM_001001548.3(CD36):c.1236del (p.Ile413fs)
NM_001001548.3(CD36):c.1255-1G>C
NM_001001548.3(CD36):c.157_158delinsG (p.Asn53fs)
NM_001001548.3(CD36):c.378_381dup (p.Val128fs)
NM_001002294.3(FMO3):c.1160G>T (p.Arg387Leu) rs72549331
NM_001002294.3(FMO3):c.132+1G>T rs886038576
NM_001002295.2(GATA3):c.430_431delinsT (p.Gly144fs)
NM_001003694.2(BRPF1):c.2262dup (p.Ile755fs)
NM_001003694.2(BRPF1):c.3020_3021insGA (p.Glu1008fs)
NM_001003722.2(GLE1):c.1194dup (p.Gln399fs)
NM_001003722.2(GLE1):c.1685dup (p.Gln563fs)
NM_001005273.3(CHD3):c.1646_1647del (p.Glu549fs)
NM_001005273.3(CHD3):c.3028C>T (p.Arg1010Ter)
NM_001005273.3(CHD3):c.4034del (p.Lys1345fs)
NM_001005273.3(CHD3):c.4357_4358+2del rs1970877175
NM_001005273.3(CHD3):c.75_76delinsGTGACAGGA (p.Leu26Ter)
NM_001005373.4(LRSAM1):c.448C>T (p.Arg150Ter)
NM_001006658.3(CR2):c.3088+1G>T
NM_001006658.3(CR2):c.623_624del (p.Pro208fs) rs747832403
NM_001007228.2(SPOP):c.79-1G>C rs2143295744
NM_001007527.2(LMBRD2):c.367T>C (p.Trp123Arg) rs2111907902
NM_001008212.2(OPTN):c.1003C>T (p.Gln335Ter)
NM_001008212.2(OPTN):c.1204_1210del (p.Asn401_Asn402insTer)
NM_001008212.2(OPTN):c.76dup (p.His26fs) rs753966040
NM_001008216.2(GALE):c.1004G>A (p.Arg335His)
NM_001008537.3(NEXMIF):c.614_615insTATGGGGTTCTGC (p.Gly206fs)
NM_001009944.3(PKD1):c.10850T>C (p.Leu3617Pro) rs1567158067
NM_001009944.3(PKD1):c.10958C>T (p.Ala3653Val) rs1483214870
NM_001009944.3(PKD1):c.11257C>G (p.Arg3753Gly)
NM_001009944.3(PKD1):c.11555T>C (p.Leu3852Pro) rs2151695909
NM_001009944.3(PKD1):c.12407G>C (p.Arg4136Thr)
NM_001009944.3(PKD1):c.12724C>T (p.Gln4242Ter) rs1181168635
NM_001009944.3(PKD1):c.1385G>A (p.Arg462Lys) rs2092659023
NM_001009944.3(PKD1):c.1529G>C (p.Arg510Pro)
NM_001009944.3(PKD1):c.2180T>G (p.Leu727Arg) rs1616940
NM_001009944.3(PKD1):c.2627_2631dup (p.Val878fs) rs1555457807
NM_001009944.3(PKD1):c.297CAA[2] (p.Asn101del)
NM_001009944.3(PKD1):c.3542A>G (p.Tyr1181Cys) rs1458516705
NM_001009944.3(PKD1):c.4379dup (p.Glu1461fs)
NM_001009944.3(PKD1):c.4697_4698del (p.Val1566fs)
NM_001009944.3(PKD1):c.4897G>T (p.Glu1633Ter)
NM_001009944.3(PKD1):c.5609A>G (p.Asn1870Ser)
NM_001009944.3(PKD1):c.5830G>T (p.Gly1944Ter) rs200001471
NM_001009944.3(PKD1):c.5968_5969del (p.Arg1990fs) rs2151790499
NM_001009944.3(PKD1):c.6116A>C (p.Gln2039Pro)
NM_001009944.3(PKD1):c.6793_6807del (p.Tyr2265_Ser2269del)
NM_001009944.3(PKD1):c.6827T>C (p.Leu2276Pro) rs1567191044
NM_001009944.3(PKD1):c.7114T>G (p.Ser2372Ala)
NM_001009944.3(PKD1):c.7118G>A (p.Cys2373Tyr)
NM_001009944.3(PKD1):c.7213T>G (p.Trp2405Gly)
NM_001009944.3(PKD1):c.7837_7839del (p.Leu2613del)
NM_001009944.3(PKD1):c.8016+2T>C rs1596536505
NM_001009944.3(PKD1):c.8161+1G>T
NM_001009944.3(PKD1):c.8369del (p.Pro2790fs) rs1057518604
NM_001009944.3(PKD1):c.841del (p.His281fs)
NM_001009944.3(PKD1):c.9521A>C (p.His3174Pro) rs769045618
NM_001009944.3(PKD1):c.9794C>A (p.Ser3265Tyr)
NM_001010874.5(TECRL):c.586C>T (p.Arg196Ter)
NM_001010892.3(RSPH4A):c.235del (p.Thr79fs)
NM_001011658.4(TRAPPC2):c.239-10_239-7del rs2146773091
NM_001012339.3(DNAJC21):c.434A>G (p.Asp145Gly)
NM_001012339.3(DNAJC21):c.895+1G>A
NM_001013703.4(EIF2AK4):c.1557T>A (p.Cys519Ter)
NM_001013703.4(EIF2AK4):c.563_564del (p.Glu188fs)
NM_001013838.3(CARMIL2):c.1335-2A>G
NM_001013838.3(CARMIL2):c.1352_1382del (p.Pro451fs)
NM_001013838.3(CARMIL2):c.1545_1546del (p.Leu515fs)
NM_001014.5(RPS10):c.400+1G>A
NM_001018005.2(TPM1):c.85AAG[1] (p.Lys30del) rs2031437544
NM_001018113.3(FANCB):c.1105-2A>G
NM_001018113.3(FANCB):c.851del (p.Pro284fs)
NM_001018115.3(FANCD2):c.1018C>T (p.Gln340Ter)
NM_001018115.3(FANCD2):c.1855del (p.Ser619fs)
NM_001018115.3(FANCD2):c.2776C>T (p.Arg926Ter)
NM_001023570.4(IQCB1):c.757del (p.Cys253fs) rs1949313357
NM_001024630.4(RUNX2):c.859+1G>C
NM_001025356.3(ANO6):c.1252dup (p.Ala418fs)
NM_001025356.3(ANO6):c.1874T>G (p.Leu625Ter)
NM_001025356.3(ANO6):c.1880+1G>C
NM_001025356.3(ANO6):c.2339_2342del (p.Leu780fs)
NM_001025603.2(RFX5):c.103C>T (p.Arg35Ter)
NM_001025603.2(RFX5):c.555+1G>A
NM_001032221.6(STXBP1):c.1216C>A (p.Arg406Ser)
NM_001032386.2(SUOX):c.1276C>T (p.Gln426Ter)
NM_001032386.2(SUOX):c.1521_1524del (p.Cys508fs) rs1890688726
NM_001032386.2(SUOX):c.352C>T (p.His118Tyr)
NM_001032386.2(SUOX):c.452T>A (p.Leu151Ter)
NM_001033560.1(DNAAF4):c.523dup (p.Ile175Asnfs) rs751610886
NM_001034853.2(RPGR):c.1015dup (p.Ile339fs)
NM_001034853.2(RPGR):c.1159del (p.Val387fs)
NM_001034853.2(RPGR):c.119_122del (p.Leu40fs)
NM_001034853.2(RPGR):c.127G>A (p.Gly43Arg) rs62638629
NM_001034853.2(RPGR):c.1374dup (p.Val459fs)
NM_001034853.2(RPGR):c.1377_1378del (p.Leu460fs) rs62653029
NM_001034853.2(RPGR):c.1519del (p.Ser507fs)
NM_001034853.2(RPGR):c.1534G>T (p.Glu512Ter)
NM_001034853.2(RPGR):c.159_160insTAA (p.Asn54Ter)
NM_001034853.2(RPGR):c.1651dup (p.Ser551fs)
NM_001034853.2(RPGR):c.1819_1820dup (p.Ala608fs)
NM_001034853.2(RPGR):c.1843del (p.Val615fs)
NM_001034853.2(RPGR):c.1881dup (p.Asp628fs)
NM_001034853.2(RPGR):c.1906G>A (p.Val636Met)
NM_001034853.2(RPGR):c.1926dup (p.Ser643fs) rs2067199347
NM_001034853.2(RPGR):c.1938_1939insAGAGG (p.Ala647fs)
NM_001034853.2(RPGR):c.196C>T (p.Gln66Ter) rs2147290510
NM_001034853.2(RPGR):c.1983_1995del (p.Gly662fs)
NM_001034853.2(RPGR):c.2083del (p.Glu695fs)
NM_001034853.2(RPGR):c.2159_2162del (p.Gln720fs)
NM_001034853.2(RPGR):c.2195del (p.Glu732fs)
NM_001034853.2(RPGR):c.219del (p.Ala74fs) rs1601982474
NM_001034853.2(RPGR):c.2221G>T (p.Glu741Ter)
NM_001034853.2(RPGR):c.2240_2253del (p.Glu747fs)
NM_001034853.2(RPGR):c.2268del (p.Glu757fs)
NM_001034853.2(RPGR):c.2336_2345dup (p.Glu784fs)
NM_001034853.2(RPGR):c.2424_2427del (p.Glu809fs)
NM_001034853.2(RPGR):c.2455_2468del (p.Val819fs)
NM_001034853.2(RPGR):c.246dup (p.Ala83fs)
NM_001034853.2(RPGR):c.2527G>T (p.Glu843Ter)
NM_001034853.2(RPGR):c.2541_2542del (p.Glu848fs)
NM_001034853.2(RPGR):c.2569A>T (p.Lys857Ter)
NM_001034853.2(RPGR):c.2605G>T (p.Glu869Ter) rs1555961677
NM_001034853.2(RPGR):c.2625del (p.Glu877fs)
NM_001034853.2(RPGR):c.2630del (p.Glu877fs)
NM_001034853.2(RPGR):c.2695G>T (p.Glu899Ter) rs2067161139
NM_001034853.2(RPGR):c.2706_2707del (p.Glu903fs)
NM_001034853.2(RPGR):c.2716G>T (p.Glu906Ter)
NM_001034853.2(RPGR):c.2725G>T (p.Glu909Ter)
NM_001034853.2(RPGR):c.2817_2818del (p.Glu940fs) rs2147194427
NM_001034853.2(RPGR):c.2911G>T (p.Glu971Ter)
NM_001034853.2(RPGR):c.2971del (p.Glu991fs) rs2067134254
NM_001034853.2(RPGR):c.299T>C (p.Leu100Pro) rs1064797366
NM_001034853.2(RPGR):c.3231_3234del (p.Asn1077fs)
NM_001034853.2(RPGR):c.3263_3266del (p.Val1088fs)
NM_001034853.2(RPGR):c.360del (p.Gly122fs)
NM_001034853.2(RPGR):c.408dup (p.Thr137fs)
NM_001034853.2(RPGR):c.427A>T (p.Lys143Ter)
NM_001034853.2(RPGR):c.430C>T (p.Gln144Ter)
NM_001034853.2(RPGR):c.470-1G>A
NM_001034853.2(RPGR):c.494G>T (p.Gly165Val)
NM_001034853.2(RPGR):c.619+2_619+5del
NM_001034853.2(RPGR):c.619+5G>C
NM_001034853.2(RPGR):c.636T>G (p.Tyr212Ter)
NM_001034853.2(RPGR):c.778+1G>T
NM_001034853.2(RPGR):c.783_784insA (p.Ala262fs)
NM_001034853.2(RPGR):c.934G>T (p.Asp312Tyr)
NM_001034853.2(RPGR):c.957del (p.Phe319fs) rs1601947074
NM_001034853.2(RPGR):c.980T>G (p.Leu327Ter) rs62640594
NM_001038.6(SCNN1A):c.875+3_875+6del
NM_001039.4(SCNN1G):c.1431+1G>T
NM_001039111.3(TRIM71):c.707A>G (p.His236Arg)
NM_001039141.3(TRIOBP):c.5185-2A>G
NM_001039141.3(TRIOBP):c.6324+203dup
NM_001039348.3(EFEMP1):c.888del (p.Asp296fs)
NM_001039591.3(USP9X):c.6183AGT[1] (p.Val2063del)
NM_001039591.3(USP9X):c.82dup (p.Leu28fs) rs758083405
NM_001040113.2(MYH11):c.5819del (p.Pro1940fs) rs747392139
NM_001040142.2(SCN2A):c.2509del (p.Glu837fs)
NM_001040142.2(SCN2A):c.2539T>C (p.Ser847Pro) rs1699366480
NM_001040142.2(SCN2A):c.2807T>C (p.Phe936Ser)
NM_001040142.2(SCN2A):c.2938G>C (p.Ala980Pro)
NM_001040142.2(SCN2A):c.4904G>A (p.Arg1635Gln) rs1057520844
NM_001040142.2(SCN2A):c.4913G>C (p.Arg1638Pro) rs1702006258
NM_001040142.2(SCN2A):c.571T>G (p.Trp191Gly) rs1057519525
NM_001040142.2(SCN2A):c.611_612del (p.Val204fs)
NM_001040142.2(SCN2A):c.656T>C (p.Phe219Ser)
NM_001040142.2(SCN2A):c.765dup (p.Val256fs)
NM_001040142.2(SCN2A):c.981T>G (p.Tyr327Ter)
NM_001041.4(SI):c.2684dup (p.Asn895fs)
NM_001041.4(SI):c.2737-2A>G rs774405472
NM_001041.4(SI):c.2892+1G>C
NM_001041.4(SI):c.3346dup (p.Glu1116fs)
NM_001041.4(SI):c.4406+1G>A
NM_001042424.3(NSD2):c.1057del (p.Leu353fs)
NM_001042492.3(NF1):c.1062+3A>T
NM_001042492.3(NF1):c.1185G>T (p.Lys395Asn)
NM_001042492.3(NF1):c.2903T>G (p.Met968Arg) rs199474749
NM_001042492.3(NF1):c.3251C>G (p.Pro1084Arg) rs1164081667
NM_001042492.3(NF1):c.3315-2A>G rs1555614914
NM_001042492.3(NF1):c.3587T>G (p.Leu1196Arg) rs199474741
NM_001042492.3(NF1):c.3870+2T>A
NM_001042492.3(NF1):c.4232T>G (p.Leu1411Arg)
NM_001042492.3(NF1):c.5567dup (p.Asn1856fs)
NM_001042492.3(NF1):c.5595dup (p.Asp1866Ter)
NM_001042545.2(LTBP4):c.1767C>A (p.Cys589Ter)
NM_001042545.2(LTBP4):c.942T>A (p.Cys314Ter)
NM_001042750.2(STAG2):c.288+1G>T
NM_001044385.3(TMEM237):c.550del (p.Ser184fs)
NM_001044385.3(TMEM237):c.673_675delinsAT (p.Phe225fs)
NM_001048166.1(STIL):c.187C>T (p.Arg63Ter)
NM_001048174.2(MUTYH):c.420+19_420+31del rs781222233
NM_001059.3(TACR3):c.311_312insTCCTGGATTGCAAGTATGAAATCTTCCTGGATTTGGGAAATCT (p.Leu104_Ile105insProGlyLeuGlnValTer)
NM_001059.3(TACR3):c.737+1G>C
NM_001077268.2(ZFYVE19):c.1174C>T (p.Arg392Ter)
NM_001077418.3(TMEM231):c.664+1G>A
NM_001079537.2(TRAPPC6B):c.37G>T (p.Glu13Ter)
NM_001079559.3(HNRNPUL2):c.223G>T (p.Glu75Ter)
NM_001079802.2(FKTN):c.1261_1286delinsACC (p.Ala421fs) rs1588315166
NM_001079802.2(FKTN):c.1267_1270dup (p.Gly424fs)
NM_001080.3(ALDH5A1):c.1111_1115del (p.Gly371fs)
NM_001080413.3(NOBOX):c.1489del (p.Cys497fs)
NM_001080517.3(SETD5):c.1782+1G>T
NM_001080517.3(SETD5):c.4186C>T (p.Gln1396Ter)
NM_001080517.3(SETD5):c.895_902del (p.Ile299fs)
NM_001081.4(CUBN):c.10033-1G>A
NM_001081.4(CUBN):c.3330-2A>G
NM_001081.4(CUBN):c.6822-1G>A
NM_001082538.3(TCTN1):c.1418del (p.Pro473fs) rs757348545
NM_001082538.3(TCTN1):c.823-2A>G
NM_001083116.3(PRF1):c.496C>T (p.Gln166Ter)
NM_001083962.2(TCF4):c.1721A>G (p.Asn574Ser) rs796053430
NM_001083962.2(TCF4):c.1763del (p.Phe588fs)
NM_001085458.2(CTNND1):c.1098dup (p.Glu367fs)
NM_001098.3(ACO2):c.1687_1696dup (p.Gln566fs)
NM_001098426.2(SMARCD2):c.574C>T (p.Arg192Ter) rs758123382
NM_001098484.3(SLC4A4):c.2017G>T (p.Glu673Ter)
NM_001098671.2(RASGRP2):c.1412+2T>C
NM_001099274.3(TINF2):c.847C>T (p.Pro283Ser) rs199422311
NM_001099274.3(TINF2):c.857dup (p.Met286fs)
NM_001100.4(ACTA1):c.1008G>C (p.Glu336Asp)
NM_001100.4(ACTA1):c.536G>A (p.Arg179His)
NM_001101.5(ACTB):c.1010dup (p.Tyr337Ter)
NM_001101.5(ACTB):c.95C>G (p.Pro32Arg)
NM_001105247.2(ARMC5):c.1502del (p.Pro501fs)
NM_001109809.5(ZFP57):c.448C>T (p.Gln150Ter) rs762074022
NM_001110556.2(FLNA):c.1213G>T (p.Glu405Ter)
NM_001110556.2(FLNA):c.124A>G (p.Lys42Glu)
NM_001110556.2(FLNA):c.2026_2041del (p.Lys676fs)
NM_001110556.2(FLNA):c.2514C>A (p.Tyr838Ter)
NM_001110556.2(FLNA):c.283C>T (p.Gln95Ter)
NM_001110556.2(FLNA):c.4785_4786del (p.Ile1596fs)
NM_001110556.2(FLNA):c.6839del (p.Lys2280fs)
NM_001110556.2(FLNA):c.6905_6907+4del
NM_001110792.2(MECP2):c.352C>G (p.Arg118Gly) rs28934907
NM_001111.5(ADAR):c.1483A>T (p.Lys495Ter)
NM_001112741.2(KCNC1):c.1294G>A (p.Val432Met) rs1057524670
NM_001113378.2(FANCI):c.1051C>T (p.Gln351Ter)
NM_001113378.2(FANCI):c.3645C>G (p.Tyr1215Ter)
NM_001114753.3(ENG):c.1195_1196del (p.Arg399fs) rs1131691422
NM_001114753.3(ENG):c.1499_1512del (p.Glu500fs)
NM_001114753.3(ENG):c.1586G>A (p.Arg529His) rs863223538
NM_001114753.3(ENG):c.1664_1676del (p.Pro555fs)
NM_001114753.3(ENG):c.219+2T>A
NM_001122630.2(CDKN1C):c.812_815dup (p.Pro273fs)
NM_001122659.3(EDNRB):c.1143dup (p.Asn382Ter)
NM_001122659.3(EDNRB):c.742A>T (p.Lys248Ter)
NM_001122659.3(EDNRB):c.801+2T>A
NM_001122769.3(LCA5):c.1803del (p.Ala602fs)
NM_001123385.2(BCOR):c.3410_3411del (p.Lys1137fs) rs1555915763
NM_001123385.2(BCOR):c.4824del (p.Asp1609fs)
NM_001123385.2(BCOR):c.590_591del (p.Glu197fs)
NM_001126108.2(SLC12A3):c.1000C>T (p.Arg334Trp)
NM_001126108.2(SLC12A3):c.1067C>T (p.Ala356Val)
NM_001126108.2(SLC12A3):c.1262G>A (p.Cys421Tyr) rs781342495
NM_001126108.2(SLC12A3):c.1670-1G>C
NM_001126128.2(PROK2):c.223-2A>G rs991290069
NM_001127178.3(PIGG):c.1956G>A (p.Trp652Ter)
NM_001127208.3(TET2):c.4543_4544del (p.Leu1515fs)
NM_001127222.2(CACNA1A):c.2270_2273dup (p.Ala759fs)
NM_001127222.2(CACNA1A):c.362dup (p.Pro122fs)
NM_001127222.2(CACNA1A):c.4470C>A (p.Tyr1490Ter)
NM_001127222.2(CACNA1A):c.5702G>A (p.Arg1901His) rs2144595024
NM_001127222.2(CACNA1A):c.5780_5783dup (p.Ile1929fs)
NM_001127222.2(CACNA1A):c.978+1G>A
NM_001127255.2(NLRP7):c.2808dup (p.Arg937fs)
NM_001127392.3(MYRF):c.1241C>T (p.Pro414Leu)
NM_001127392.3(MYRF):c.1415del (p.Thr472fs)
NM_001127392.3(MYRF):c.1577G>A (p.Arg526His)
NM_001127392.3(MYRF):c.2036T>C (p.Val679Ala) rs2066476390
NM_001127898.4(CLCN5):c.1844G>A (p.Ser615Asn)
NM_001127898.4(CLCN5):c.1933G>T (p.Glu645Ter)
NM_001129.5(AEBP1):c.1018+1G>A
NM_001130004.2(ACTN1):c.2243T>A (p.Met748Lys) rs1594751659
NM_001130144.3(LTBP3):c.3393_3403dup (p.Arg1135fs)
NM_001130144.3(LTBP3):c.3605_3623dup (p.Arg1209fs)
NM_001130144.3(LTBP3):c.846del (p.Asp282fs)
NM_001130438.3(SPTAN1):c.1727A>G (p.Gln576Arg)
NM_001130438.3(SPTAN1):c.2401C>T (p.Arg801Ter)
NM_001130438.3(SPTAN1):c.6019_6020del (p.Thr2006_Asp2007insTer)
NM_001134673.4(NFIA):c.1051C>T (p.Arg351Ter) rs1422656895
NM_001134831.2(AHI1):c.300dup (p.Leu101fs)
NM_001135998.3(NDUFB11):c.385C>T (p.Arg129Ter)
NM_001136157.2(OTUD5):c.1100C>T (p.Ser367Leu)
NM_001136193.2(FASTKD2):c.991-2A>G
NM_001139.3(ALOX12B):c.212_213del (p.Lys71fs)
NM_001142784.3(IL11RA):c.162-2A>T
NM_001142784.3(IL11RA):c.82dup (p.Gln28fs)
NM_001142864.4(PIEZO1):c.2157_2180+28del
NM_001142864.4(PIEZO1):c.3373C>T (p.Gln1125Ter)
NM_001142864.4(PIEZO1):c.6008C>A (p.Ala2003Asp)
NM_001142864.4(PIEZO1):c.6262C>G (p.Arg2088Gly) rs745674960
NM_001142864.4(PIEZO1):c.6349G>A (p.Glu2117Lys)
NM_001142864.4(PIEZO1):c.674del (p.Leu225fs)
NM_001142966.3(GREB1L):c.2161_2162del (p.Leu721fs)
NM_001142966.3(GREB1L):c.2232del (p.Ala745fs)
NM_001142966.3(GREB1L):c.3814del (p.Leu1271_Leu1272insTer)
NM_001142966.3(GREB1L):c.4871G>A (p.Trp1624Ter)
NM_001145026.2(PTPRQ):c.1736del (p.Asn579fs)
NM_001145026.2(PTPRQ):c.3205del (p.Ala1069fs)
NM_001145358.2(SIN3A):c.2863dup (p.Val955fs)
NM_001145860.2(POP1):c.2332C>T (p.Gln778Ter)
NM_001148.6(ANK2):c.2698C>T (p.Arg900Ter)
NM_001148.6(ANK2):c.6138_6139del (p.Asn2047fs)
NM_001160372.4(TRAPPC9):c.1045del (p.Ile349fs)
NM_001161352.2(KCNMA1):c.2837del (p.Ala946fs)
NM_001161352.2(KCNMA1):c.771del (p.Val258fs)
NM_001162501.2(TNRC6B):c.1592dup (p.Asn532fs)
NM_001163435.3(TBCK):c.1475dup (p.Ile493fs)
NM_001163809.2(WDR81):c.4910_4934del (p.His1637fs)
NM_001164277.2(SLC37A4):c.923_934dup (p.Met308_Met311dup) rs786204477
NM_001164496.2(CFAP44):c.2616del (p.Leu873fs)
NM_001164508.2(NEB):c.21214_21217delinsAAT (p.Tyr7072fs)
NM_001164508.2(NEB):c.3264_3265del (p.Tyr1088_Lys1089delinsTer) rs2099386637
NM_001164508.2(NEB):c.9758dup (p.Lys3254fs)
NM_001165963.4(SCN1A):c.1264G>A (p.Val422Met) rs886042528
NM_001165963.4(SCN1A):c.3692G>T (p.Ser1231Ile)
NM_001165963.4(SCN1A):c.4338+5G>A rs796053011
NM_001165963.4(SCN1A):c.5075T>G (p.Phe1692Cys)
NM_001166114.2(PNPLA6):c.620dup (p.Gln209fs)
NM_001166345.3(MDFIC):c.391dup (p.Met131fs) rs562142736
NM_001167.4(XIAP):c.977+1G>A
NM_001170629.2(CHD8):c.1138C>T (p.Gln380Ter)
NM_001170629.2(CHD8):c.4373G>A (p.Trp1458Ter)
NM_001170629.2(CHD8):c.7096C>T (p.Gln2366Ter)
NM_001171613.2(PREPL):c.167del (p.Leu56fs) rs775517492
NM_001171613.2(PREPL):c.539_540dup (p.Met181fs)
NM_001172509.2(SATB2):c.1175G>T (p.Gly392Val)
NM_001172509.2(SATB2):c.1569G>A (p.Trp523Ter)
NM_001172509.2(SATB2):c.368G>A (p.Trp123Ter)
NM_001172509.2(SATB2):c.700+1G>A
NM_001173464.2(KIF21A):c.2840T>C (p.Met947Thr)
NM_001174089.2(SLC4A11):c.2089_2092del (p.Phe697fs) rs1377933433
NM_001174147.2(LMX1B):c.175T>C (p.Cys59Arg)
NM_001174147.2(LMX1B):c.327-1G>A
NM_001174147.2(LMX1B):c.667C>T (p.Arg223Trp)
NM_001174147.2(LMX1B):c.668G>C (p.Arg223Pro)
NM_001174147.2(LMX1B):c.844del (p.Gln282fs)
NM_001190274.2(FBXO11):c.1297T>G (p.Leu433Val)
NM_001190274.2(FBXO11):c.2143A>C (p.Lys715Gln)
NM_001194998.2(CEP152):c.1578-1G>A
NM_001195263.2(PDZD7):c.175_182del (p.Arg59fs)
NM_001195263.2(PDZD7):c.925C>T (p.Arg309Ter)
NM_001195518.2(MICU1):c.553C>T (p.Arg185Ter)
NM_001197104.2(KMT2A):c.26T>G (p.Phe9Cys)
NM_001197104.2(KMT2A):c.9554C>G (p.Ser3185Ter)
NM_001198800.3(ASCC1):c.649del (p.Pro216_Leu217insTer)
NM_001199107.2(TBC1D24):c.1302+1G>T
NM_001199397.3(NEK1):c.1360C>T (p.Gln454Ter)
NM_001199397.3(NEK1):c.2640dup (p.Val881fs)
NM_001199397.3(NEK1):c.2886-2A>G
NM_001199397.3(NEK1):c.323G>A (p.Trp108Ter)
NM_001200.4(BMP2):c.1026dup (p.Ala343fs)
NM_001200.4(BMP2):c.326del (p.Val109fs)
NM_001202.6(BMP4):c.928C>T (p.Arg310Cys) rs770777693
NM_001203.3(BMPR1B):c.1457G>A (p.Arg486Gln) rs121434419
NM_001205019.2(GK):c.89C>A (p.Ser30Ter)
NM_001206744.2(TPO):c.1045_1054delinsT (p.Leu349_Val352delinsPhe)
NM_001206744.2(TPO):c.2311G>A (p.Gly771Arg)
NM_001206744.2(TPO):c.2748G>A (p.Gln916=)
NM_001206927.2(DNAH8):c.11714del (p.Gly3905fs)
NM_001206927.2(DNAH8):c.2267dup (p.Asp757fs)
NM_001206927.2(DNAH8):c.360dup (p.Asn121fs)
NM_001242896.3(DEPDC5):c.364-1G>C
NM_001243133.2(NLRP3):c.2575T>C (p.Tyr859His) rs2103174031
NM_001244008.2(KIF1A):c.142A>G (p.Lys48Glu)
NM_001244008.2(KIF1A):c.3875G>A (p.Trp1292Ter)
NM_001253852.3(AP4B1):c.1134C>A (p.Tyr378Ter)
NM_001256007.3(PNPLA8):c.86delinsAA (p.Leu29fs)
NM_001256627.2(BRSK2):c.472G>A (p.Ala158Thr)
NM_001264.5(CDSN):c.583del (p.Ser195fs)
NM_001267550.2(TTN):c.100791_100792insGTGTACCTAAA (p.Thr33598fs) rs1691180795
NM_001267550.2(TTN):c.104861_104876del (p.Pro34954fs) rs1402952523
NM_001267550.2(TTN):c.106157dup (p.Ser35387fs)
NM_001267550.2(TTN):c.107644del (p.Ser35882fs) rs1179955071
NM_001267550.2(TTN):c.12523C>T (p.Gln4175Ter)
NM_001267550.2(TTN):c.13864dup (p.Ile4622fs)
NM_001267550.2(TTN):c.15691C>T (p.Gln5231Ter)
NM_001267550.2(TTN):c.16621_16621+45del
NM_001267550.2(TTN):c.17664del (p.Asp5889fs)
NM_001267550.2(TTN):c.25639+2T>C rs769452066
NM_001267550.2(TTN):c.30704_30707del (p.Lys10235fs)
NM_001267550.2(TTN):c.30754+1G>A
NM_001267550.2(TTN):c.36365-1G>A rs577672565
NM_001267550.2(TTN):c.40723+1del rs876658058
NM_001267550.2(TTN):c.41483del (p.Pro13828fs) rs876657664
NM_001267550.2(TTN):c.45520_45521del (p.Arg15174fs)
NM_001267550.2(TTN):c.46236C>A (p.Cys15412Ter) rs368200299
NM_001267550.2(TTN):c.51786del (p.Asp17263fs)
NM_001267550.2(TTN):c.53355G>A (p.Trp17785Ter) rs794729273
NM_001267550.2(TTN):c.60447T>G (p.Tyr20149Ter) rs1553644047
NM_001267550.2(TTN):c.64673-2A>G rs2154180194
NM_001267550.2(TTN):c.65437C>T (p.Gln21813Ter) rs1575960580
NM_001267550.2(TTN):c.66685del (p.Gln22229fs)
NM_001267550.2(TTN):c.67166_67167del (p.Tyr22389fs) rs1476017129
NM_001267550.2(TTN):c.68137G>T (p.Glu22713Ter)
NM_001267550.2(TTN):c.68169del (p.Lys22723fs)
NM_001267550.2(TTN):c.6820C>T (p.Gln2274Ter) rs145649088
NM_001267550.2(TTN):c.69106del (p.Thr23036fs)
NM_001267550.2(TTN):c.71747C>G (p.Ser23916Ter)
NM_001267550.2(TTN):c.72826dup (p.Thr24276fs) rs971618751
NM_001267550.2(TTN):c.7495A>T (p.Lys2499Ter)
NM_001267550.2(TTN):c.7642C>T (p.Gln2548Ter) rs727503688
NM_001267550.2(TTN):c.78728_78731del (p.Lys26243fs)
NM_001267550.2(TTN):c.78797del (p.Ile26265_Leu26266insTer)
NM_001267550.2(TTN):c.80403G>A (p.Trp26801Ter)
NM_001267550.2(TTN):c.92569_92570del (p.Ile30857fs) rs2154147864
NM_001267550.2(TTN):c.9372dup (p.Gly3125fs)
NM_001267550.2(TTN):c.95341C>T (p.Arg31781Ter) rs780414947
NM_001267550.2(TTN):c.97451_97452del (p.Ser32484fs) rs878854433
NM_001267550.2(TTN):c.97972C>T (p.Arg32658Ter)
NM_001267550.2(TTN):c.98077_98080del (p.Val32693fs)
NM_001267550.2(TTN):c.99063del (p.Lys33021fs) rs1445687820
NM_001271.4(CHD2):c.2628G>T (p.Leu876Phe)
NM_001271.4(CHD2):c.2699G>C (p.Arg900Pro)
NM_001271.4(CHD2):c.3735dup (p.Tyr1246fs) rs752940775
NM_001271.4(CHD2):c.827-2A>G
NM_001273.5(CHD4):c.3202C>A (p.Arg1068Ser)
NM_001273.5(CHD4):c.3401A>G (p.Asn1134Ser)
NM_001276345.2(TNNT2):c.422G>A (p.Arg141Gln) rs397516464
NM_001277115.2(DNAH11):c.11202+1G>C
NM_001277115.2(DNAH11):c.4044G>A (p.Trp1348Ter)
NM_001277115.2(DNAH11):c.7140_7141del (p.Val2382fs) rs878854445
NM_001277115.2(DNAH11):c.7826del (p.Lys2609fs)
NM_001278116.2(L1CAM):c.1528del (p.Ala510fs)
NM_001278116.2(L1CAM):c.2872+2T>C
NM_001278116.2(L1CAM):c.3118del (p.Glu1040fs)
NM_001278116.2(L1CAM):c.3671C>T (p.Ser1224Leu) rs2148491960
NM_001278116.2(L1CAM):c.754del (p.Leu252fs)
NM_001278116.2(L1CAM):c.924C>T (p.Gly308=) rs797044787
NM_001278293.3(ARL6):c.228C>G (p.Tyr76Ter) rs2037147164
NM_001281747.2(MLIP):c.2452del (p.Ser818fs)
NM_001282116.2(RFX3):c.855C>G (p.Tyr285Ter)
NM_001282531.3(ADNP):c.202-5_202-1del
NM_001282717.2(STAG3):c.709del (p.Leu237fs)
NM_001283009.2(RTEL1):c.1266+3_1266+80del rs2090574236
NM_001283009.2(RTEL1):c.2892T>G (p.Phe964Leu) rs1470145133
NM_001283009.2(RTEL1):c.897del (p.Phe299fs) rs1555901832
NM_001286577.2(C2CD3):c.3051_3052insA (p.Pro1018fs)
NM_001286577.2(C2CD3):c.3160+2T>C
NM_001287491.2(TET3):c.3565C>T (p.Gln1189Ter)
NM_001287491.2(TET3):c.4525C>T (p.Arg1509Ter)
NM_001287491.2(TET3):c.5243del (p.Gly1748fs)
NM_001288705.3(CSF1R):c.2344C>T (p.Arg782Cys) rs2113779576
NM_001289789.1(GPI):c.82C>T (p.Gln28Ter)
NM_001289808.2(CRYAB):c.100dup (p.Glu34fs)
NM_001291303.3(FAT4):c.980del (p.Asp327fs)
NM_001291415.2(KDM6A):c.1969G>T (p.Gly657Ter)
NM_001291867.2(NHS):c.243_244del (p.Gln82fs)
NM_001292034.3(TAB2):c.80_84delinsAGG (p.Val27fs)
NM_001292063.2(OTOG):c.1452-1G>A
NM_001292063.2(OTOG):c.6542T>A (p.Leu2181Ter)
NM_001292063.2(OTOG):c.6934-2A>G
NM_001292063.2(OTOG):c.8322C>A (p.Cys2774Ter)
NM_001308093.3(GATA4):c.851G>A (p.Arg284His) rs180765750
NM_001317778.2(SFTPC):c.163C>T (p.Leu55Phe) rs1563221666
NM_001320.7(CSNK2B):c.175+1G>A
NM_001320.7(CSNK2B):c.94G>A (p.Asp32Asn) rs1554169984
NM_001320752.2(STS):c.1346G>A (p.Arg449His)
NM_001322934.2(NFKB2):c.2173C>T (p.Arg725Ter)
NM_001324418.2(ADAM22):c.2255_2259del (p.Ile752fs)
NM_001326342.2(CELF2):c.977-2A>T
NM_001329630.2(PLEKHA7):c.3357+2T>G
NM_001329943.3(KIAA0586):c.1196C>G (p.Ser399Ter)
NM_001330260.2(SCN8A):c.1219T>A (p.Leu407Met) rs1555219495
NM_001330260.2(SCN8A):c.5555C>T (p.Thr1852Ile) rs796053227
NM_001330260.2(SCN8A):c.751C>G (p.Leu251Val)
NM_001330288.2(SMARCC2):c.3221dup (p.Gly1075fs) rs752001894
NM_001332.4(CTNND2):c.1687T>G (p.Phe563Val)
NM_001347721.2(DYRK1A):c.1753C>T (p.Gln585Ter)
NM_001347721.2(DYRK1A):c.794T>C (p.Leu265Pro)
NM_001348323.3(TRIP12):c.694_698dup (p.Thr234fs)
NM_001348716.2(KDM6B):c.2197C>T (p.Gln733Ter)
NM_001348716.2(KDM6B):c.4190G>A (p.Cys1397Tyr)
NM_001348800.3(ZBTB20):c.1915T>C (p.Cys639Arg)
NM_001349338.3(FOXP1):c.1438G>A (p.Glu480Lys)
NM_001349338.3(FOXP1):c.870-2A>C
NM_001349798.2(FBXW7):c.1044_1045del (p.His348fs)
NM_001349798.2(FBXW7):c.1793A>T (p.Asn598Ile)
NM_001352027.3(PHF21A):c.262C>T (p.Gln88Ter)
NM_001353214.3(DYM):c.947-2A>G rs567638775
NM_001353345.2(SETD1B):c.3847del (p.Ser1283fs)
NM_001354604.2(MITF):c.1072G>A (p.Val358Met) rs1271000541
NM_001354604.2(MITF):c.997G>T (p.Glu333Ter) rs147682682
NM_001354712.2(THRB):c.1030G>A (p.Gly344Arg)
NM_001354712.2(THRB):c.1144+1G>T
NM_001354712.2(THRB):c.1304A>G (p.His435Arg)
NM_001354712.2(THRB):c.1324A>G (p.Met442Val) rs121918691
NM_001354712.2(THRB):c.740C>T (p.Pro247Leu)
NM_001354712.2(THRB):c.803C>G (p.Ala268Gly) rs750905761
NM_001355436.2(SPTB):c.2317C>T (p.Gln773Ter)
NM_001355436.2(SPTB):c.3241C>T (p.Gln1081Ter)
NM_001355436.2(SPTB):c.4843-1G>T
NM_001355436.2(SPTB):c.6369del (p.Gln2124fs)
NM_001355436.2(SPTB):c.647G>A (p.Arg216Gln) rs1555371769
NM_001355436.2(SPTB):c.940del (p.Leu314fs)
NM_001356.5(DDX3X):c.1157C>A (p.Pro386His)
NM_001356.5(DDX3X):c.121C>T (p.Pro41Ser) rs1064793796
NM_001356.5(DDX3X):c.1341T>G (p.Phe447Leu)
NM_001356.5(DDX3X):c.651_652del (p.Asp219fs) rs2063876393
NM_001358530.2(MOCS1):c.306_309dup (p.Thr104fs)
NM_001360.3(DHCR7):c.1066del (p.His356fs) rs774291653
NM_001360.3(DHCR7):c.1406G>C (p.Arg469Pro) rs201150384
NM_001360.3(DHCR7):c.385_412+5del rs746482788
NM_001360.3(DHCR7):c.839A>G (p.Tyr280Cys) rs121909766
NM_001361.5(DHODH):c.248_261del (p.Leu83fs) rs776973679
NM_001363711.2(DUOX2):c.1040+1G>T
NM_001363711.2(DUOX2):c.2654G>T (p.Arg885Leu) rs181461079
NM_001363711.2(DUOX2):c.2713G>T (p.Glu905Ter)
NM_001363711.2(DUOX2):c.3076C>T (p.Gln1026Ter)
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs) rs567500345
NM_001364171.2(ODAD1):c.813_816dup (p.Pro273fs)
NM_001364905.1(LRBA):c.2149C>T (p.Gln717Ter)
NM_001365088.1(SLC12A6):c.294_295del (p.Glu100fs) rs1292460656
NM_001365088.1(SLC12A6):c.3346G>T (p.Glu1116Ter) rs1555376688
NM_001365276.2(TNXB):c.4573C>T (p.Arg1525Ter)
NM_001365276.2(TNXB):c.8606_8607insA (p.Gln2870fs) rs2151897511
NM_001365276.2(TNXB):c.9174dup (p.Ile3059fs)
NM_001365999.1(SZT2):c.6139C>T (p.Arg2047Ter) rs766341332
NM_001366521.1(ATP2B1):c.2482ATT[1] (p.Ile829del)
NM_001366900.1(TTC21A):c.3025_3043del (p.Leu1009fs)
NM_001367561.1(DOCK7):c.6080del (p.Gly2027fs)
NM_001367721.1(CASK):c.1668+5G>A
NM_001367721.1(CASK):c.2440del (p.Ala814fs)
NM_001369.3(DNAH5):c.12072T>A (p.Tyr4024Ter)
NM_001369.3(DNAH5):c.57+1G>A
NM_001369.3(DNAH5):c.5953G>C (p.Gly1985Arg)
NM_001369.3(DNAH5):c.6815_6818dup (p.Thr2274fs)
NM_001369.3(DNAH5):c.7407+1G>A rs749711805
NM_001369.3(DNAH5):c.7475_7500delinsTTG (p.Ala2492fs)
NM_001369268.1(ACAN):c.6912C>A (p.Cys2304Ter)
NM_001369268.1(ACAN):c.936del (p.Lys313fs)
NM_001370100.5(ZMYND11):c.1108C>T (p.Arg370Ter)
NM_001370100.5(ZMYND11):c.1798C>T (p.Arg600Trp) rs797044854
NM_001370259.2(MEN1):c.1667AGA[1] (p.Lys557del) rs794728661
NM_001371395.1(USP53):c.1636dup (p.Ile546fs)
NM_001371533.1(FUT8):c.786_789del (p.Ser263fs)
NM_001371623.1(TCOF1):c.102_103delinsTAAGCTGCACCAC (p.Gly35fs)
NM_001371623.1(TCOF1):c.108+1G>A
NM_001371623.1(TCOF1):c.1152dup (p.Gly385fs)
NM_001371623.1(TCOF1):c.1974del (p.Val659fs)
NM_001371623.1(TCOF1):c.2306C>A (p.Ser769Ter)
NM_001371928.1(AHDC1):c.1122del (p.Pro376fs)
NM_001371986.1(UNC80):c.422G>A (p.Trp141Ter)
NM_001372.4(DNAH9):c.11526G>A (p.Trp3842Ter)
NM_001372.4(DNAH9):c.11815G>T (p.Glu3939Ter)
NM_001372.4(DNAH9):c.12193C>T (p.Arg4065Ter)
NM_001372.4(DNAH9):c.1733del (p.Leu578fs)
NM_001372.4(DNAH9):c.1944T>G (p.Tyr648Ter)
NM_001372.4(DNAH9):c.2928+1G>A
NM_001372.4(DNAH9):c.4990del (p.Val1664fs)
NM_001372.4(DNAH9):c.4995_4998del (p.Phe1666fs)
NM_001372.4(DNAH9):c.614+2dup
NM_001372.4(DNAH9):c.8061+2T>C
NM_001372044.2(SHANK3):c.1138C>G (p.Arg380Gly)
NM_001372044.2(SHANK3):c.503A>G (p.Lys168Arg)
NM_001372044.2(SHANK3):c.5043dup (p.Thr1682fs)
NM_001372044.2(SHANK3):c.5324_5334del (p.Pro1775fs)
NM_001372066.1(TFAP2A):c.656G>T (p.Arg219Leu) rs1554111768
NM_001372066.1(TFAP2A):c.687C>G (p.Tyr229Ter) rs2114014460
NM_001372076.1(PAX9):c.508_511dup (p.Ala171fs)
NM_001372076.1(PAX9):c.608del (p.Gly203fs) rs2139108839
NM_001374353.1(GLI2):c.3244del (p.Leu1082fs)
NM_001374385.1(ATP8B1):c.212del (p.Arg71fs)
NM_001374385.1(ATP8B1):c.2649C>G (p.Tyr883Ter)
NM_001374504.1(TMPRSS6):c.909G>A (p.Trp303Ter)
NM_001374675.1(HSF4):c.7G>T (p.Glu3Ter)
NM_001374675.1(HSF4):c.904del (p.Asp302fs)
NM_001374828.1(ARID1B):c.2581+5G>A rs1554298239
NM_001374828.1(ARID1B):c.3220del (p.Met1073_Val1074insTer)
NM_001374828.1(ARID1B):c.5417del (p.Leu1805_Leu1806insTer)
NM_001375380.1(EBF3):c.117del (p.Asn40fs)
NM_001375380.1(EBF3):c.695T>A (p.Met232Lys)
NM_001375765.1(GIGYF1):c.1171A>T (p.Lys391Ter)
NM_001375765.1(GIGYF1):c.425del (p.Asp142fs)
NM_001375765.1(GIGYF1):c.661C>T (p.Arg221Ter)
NM_001375765.1(GIGYF1):c.671_680del (p.Asp224fs)
NM_001376.5(DYNC1H1):c.10436T>C (p.Leu3479Pro)
NM_001376.5(DYNC1H1):c.12760G>A (p.Gly4254Arg)
NM_001376.5(DYNC1H1):c.3174G>C (p.Gln1058His)
NM_001376.5(DYNC1H1):c.3278T>C (p.Phe1093Ser) rs1555408829
NM_001376.5(DYNC1H1):c.6017_6022delinsA (p.Val2006fs)
NM_001376013.1(EPB41):c.1652C>A (p.Ser551Ter)
NM_001376571.1(MADD):c.568C>T (p.Arg190Ter)
NM_001377.3(DYNC2H1):c.11257-2A>G
NM_001377.3(DYNC2H1):c.1361-2A>T
NM_001377.3(DYNC2H1):c.1366C>T (p.Arg456Ter)
NM_001377.3(DYNC2H1):c.2692C>T (p.Arg898Ter)
NM_001377.3(DYNC2H1):c.4047G>A (p.Trp1349Ter)
NM_001377.3(DYNC2H1):c.6139+2T>C
NM_001377.3(DYNC2H1):c.6265A>G (p.Asn2089Asp) rs753662982
NM_001377.3(DYNC2H1):c.6910G>A (p.Ala2304Thr) rs747348765
NM_001377.3(DYNC2H1):c.9760_9764del (p.Trp3253_Lys3254insTer) rs1218198013
NM_001378183.1(PIEZO2):c.170_174dup (p.Leu59fs)
NM_001378183.1(PIEZO2):c.3157G>T (p.Glu1053Ter)
NM_001378414.1(HDAC4):c.731C>A (p.Thr244Lys) rs2042442594
NM_001378418.1(TCF20):c.1986dup (p.Ser663fs)
NM_001378454.1(ALMS1):c.3297_3314delinsCCTTTGTGAGTAGACCTTGCAGACCTTG (p.Gln1099_Ile1105delinsHisLeuCysGluTer)
NM_001378454.1(ALMS1):c.352C>T (p.Gln118Ter)
NM_001378477.3(NYX):c.920A>G (p.Asn307Ser) rs62637035
NM_001378609.3(OTOGL):c.3340del (p.Ser1114fs)
NM_001378609.3(OTOGL):c.4543C>T (p.Arg1515Ter)
NM_001378609.3(OTOGL):c.6267+1G>T
NM_001378615.1(CC2D2A):c.1426dup (p.Thr476fs)
NM_001378615.1(CC2D2A):c.4844_4847del (p.Ser1615fs) rs863225175
NM_001378743.1(CYLD):c.2282_2283del (p.Lys761fs)
NM_001378778.1(MPDZ):c.3100C>T (p.Arg1034Ter)
NM_001379081.2(FREM1):c.5205-1_5209delinsTTT
NM_001379180.1(ESRRB):c.851-2A>T
NM_001379200.1(TBX1):c.857A>G (p.Gln286Arg)
NM_001379228.1(MRAP):c.206+5G>T rs1064796398
NM_001379403.1(WDR26):c.1196G>A (p.Arg399Gln) rs1673967254
NM_001382241.1(TNPO2):c.1541C>T (p.Pro514Leu)
NM_001384125.1(BLTP1):c.10312+2T>C
NM_001384125.1(BLTP1):c.11513+1G>C
NM_001384125.1(BLTP1):c.9568C>T (p.Arg3190Ter)
NM_001384140.1(PCDH15):c.22_23delinsC (p.Trp8fs)
NM_001384474.1(LOXHD1):c.2850del (p.Asp950fs)
NM_001384732.1(CPLANE1):c.1396C>T (p.Arg466Ter)
NM_001384732.1(CPLANE1):c.6867T>A (p.Tyr2289Ter)
NM_001385012.1(NBEA):c.2845-1G>A
NM_001385012.1(NBEA):c.433C>T (p.Arg145Ter) rs1215568155
NM_001386125.1(OBSCN):c.21187+1G>T
NM_001386140.1(MTTP):c.1067+1G>A
NM_001386140.1(MTTP):c.1681del (p.Leu561fs)
NM_001386140.1(MTTP):c.399dup (p.Glu134fs)
NM_001386298.1(CIC):c.1582C>T (p.Arg528Ter) rs2147018633
NM_001386298.1(CIC):c.2398C>T (p.Arg800Cys)
NM_001386298.1(CIC):c.4066dup (p.Glu1356fs)
NM_001386298.1(CIC):c.4217C>T (p.Pro1406Leu)
NM_001386298.1(CIC):c.4498del (p.Leu1500fs)
NM_001386298.1(CIC):c.5903-2A>G
NM_001388453.1(QRICH2):c.4914dup (p.Asn1639fs)
NM_001389.5(DSCAM):c.4420G>T (p.Glu1474Ter)
NM_001389.5(DSCAM):c.750del (p.His251fs)
NM_001394372.1(BICRA):c.3964G>A (p.Val1322Met)
NM_001394998.1(TANC2):c.3388C>T (p.Gln1130Ter)
NM_001395413.1(POR):c.1660+1G>A
NM_001395891.1(CLASP1):c.196-670T>C rs982261295
NM_001399.5(EDA):c.1008del (p.Ile336fs)
NM_001399.5(EDA):c.466C>T (p.Arg156Cys) rs132630313
NM_001399.5(EDA):c.707-13T>G rs2147511678
NM_001399.5(EDA):c.820T>C (p.Trp274Arg)
NM_001399.5(EDA):c.961G>T (p.Glu321Ter) rs397516682
NM_001429.4(EP300):c.3451C>T (p.Gln1151Ter)
NM_001429.4(EP300):c.4070_4092del (p.Thr1357fs)
NM_001429.4(EP300):c.4578_4581del (p.Arg1527fs)
NM_001429.4(EP300):c.5255A>G (p.Asn1752Ser)
NM_001448.3(GPC4):c.1032del (p.Lys345fs)
NM_001448.3(GPC4):c.1609C>T (p.Gln537Ter)
NM_001453.3(FOXC1):c.104_105delinsT (p.Gly35fs)
NM_001453.3(FOXC1):c.404G>A (p.Cys135Tyr)
NM_001453.3(FOXC1):c.892_898del (p.Ser298fs)
NM_001454.4(FOXJ1):c.832del (p.Leu278fs)
NM_001457.4(FLNB):c.5339dup (p.Asp1781fs)
NM_001457.4(FLNB):c.5554+1G>A
NM_001457.4(FLNB):c.637C>T (p.Gln213Ter)
NM_001458.5(FLNC):c.1315_1328del (p.Thr439fs)
NM_001519.4(BRF1):c.1456_1457del (p.Arg486fs)
NM_001519.4(BRF1):c.291del (p.Asn98fs)
NM_001556.3(IKBKB):c.11C>A (p.Ser4Ter)
NM_001556.3(IKBKB):c.1241-2A>C
NM_001558.4(IL10RA):c.301C>T (p.Arg101Trp) rs368287711
NM_001609.4(ACADSB):c.1053C>A (p.Tyr351Ter)
NM_001609.4(ACADSB):c.1116C>A (p.Tyr372Ter)
NM_001614.5(ACTG1):c.998C>G (p.Pro333Arg)
NM_001655.5(ARCN1):c.1303C>T (p.Arg435Ter) rs2135556662
NM_001692.4(ATP6V1B1):c.273+2T>A rs1680488861
NM_001734.5(C1S):c.1194_1195dup (p.Gly399fs)
NM_001735.3(C5):c.957CAA[1] (p.Asn320del) rs772444483
NM_001737.5(C9):c.1184_1185del (p.Ser395fs) rs752437276
NM_001737.5(C9):c.877del (p.Met293fs)
NM_001750.7(CAST):c.1495C>T (p.Gln499Ter)
NM_001750.7(CAST):c.1702G>T (p.Glu568Ter)
NM_001753.5(CAV1):c.396dup (p.Cys133fs)
NM_001754.5(RUNX1):c.1003C>T (p.Gln335Ter) rs1569002881
NM_001754.5(RUNX1):c.1163C>A (p.Ser388Ter) rs1569002296
NM_001754.5(RUNX1):c.1173_1174del (p.Gln392fs)
NM_001754.5(RUNX1):c.1198_1201dup (p.Pro401fs) rs1569002159
NM_001754.5(RUNX1):c.1228_1231dup (p.Ala411fs) rs1569002077
NM_001754.5(RUNX1):c.1263_1264insTCCCTCCTACCACCTGTACTACGGCGCCTCGGCCGGCTCCTACCAGTTCTCCATGGTGGGCGGC (p.Glu422fs) rs1569001972
NM_001754.5(RUNX1):c.1412_1413dup (p.Leu472fs) rs1555884790
NM_001754.5(RUNX1):c.159del (p.Ser53fs) rs1569084646
NM_001754.5(RUNX1):c.171_223del (p.Leu58fs) rs1569084451
NM_001754.5(RUNX1):c.311del (p.Thr104fs)
NM_001754.5(RUNX1):c.339del (p.Ile114fs) rs1569084032
NM_001754.5(RUNX1):c.351+1G>C rs1060502579
NM_001754.5(RUNX1):c.424dup (p.Ala142fs) rs1569079076
NM_001754.5(RUNX1):c.501del (p.Ser167fs) rs1569078799
NM_001754.5(RUNX1):c.504_508dup (p.Gly170fs) rs1569078774
NM_001754.5(RUNX1):c.509-1G>A
NM_001754.5(RUNX1):c.593A>C (p.Asp198Ala) rs1569061786
NM_001754.5(RUNX1):c.719del (p.Pro240fs) rs1569037127
NM_001754.5(RUNX1):c.820del (p.Gln274fs) rs1569009004
NM_001754.5(RUNX1):c.968-10C>A rs1476636108
NM_001791.4(CDC42):c.101C>A (p.Pro34Gln) rs1645575465
NM_001793.6(CDH3):c.461del (p.Pro154fs)
NM_001807.6(CEL):c.1410_1411delinsACTC (p.Thr471fs)
NM_001830.4(CLCN4):c.2167C>T (p.Arg723Trp) rs1924842665
NM_001844.5(COL2A1):c.1258G>A (p.Gly420Arg) rs867799325
NM_001844.5(COL2A1):c.1286G>A (p.Gly429Asp)
NM_001844.5(COL2A1):c.1435C>T (p.Gln479Ter) rs2136571484
NM_001844.5(COL2A1):c.1524_1527del (p.Arg509fs)
NM_001844.5(COL2A1):c.156C>A (p.Cys52Ter) rs1246771678
NM_001844.5(COL2A1):c.1834-1G>A
NM_001844.5(COL2A1):c.1987G>A (p.Gly663Arg)
NM_001844.5(COL2A1):c.1995+1G>T rs2136556600
NM_001844.5(COL2A1):c.1996-9G>A rs2136555221
NM_001844.5(COL2A1):c.2409+1G>A
NM_001844.5(COL2A1):c.2679+1G>T
NM_001844.5(COL2A1):c.309+1G>A
NM_001844.5(COL2A1):c.3264_3265del (p.Gly1089fs)
NM_001844.5(COL2A1):c.3491G>A (p.Gly1164Asp) rs1476546104
NM_001844.5(COL2A1):c.3536G>A (p.Gly1179Glu)
NM_001844.5(COL2A1):c.870+2T>C
NM_001845.6(COL4A1):c.1536+1G>A
NM_001845.6(COL4A1):c.2008G>A (p.Gly670Arg) rs1878248687
NM_001845.6(COL4A1):c.2486G>T (p.Gly829Val)
NM_001845.6(COL4A1):c.2869G>T (p.Gly957Ter)
NM_001845.6(COL4A1):c.3851G>A (p.Gly1284Glu)
NM_001846.4(COL4A2):c.1615G>A (p.Gly539Ser)
NM_001848.3(COL6A1):c.1263dup (p.Gly422fs)
NM_001848.3(COL6A1):c.1425del (p.Gly476fs) rs878854398
NM_001848.3(COL6A1):c.2197_2200del (p.Asp733fs) rs1330933906
NM_001848.3(COL6A1):c.904-2A>G rs1057519174
NM_001848.3(COL6A1):c.930+1G>A rs886042902
NM_001849.4(COL6A2):c.1064G>T (p.Gly355Val)
NM_001851.6(COL9A1):c.1178del (p.Pro393fs) rs1482734025
NM_001852.4(COL9A2):c.1051C>T (p.Gln351Ter)
NM_001852.4(COL9A2):c.307C>T (p.Gln103Ter)
NM_001853.4(COL9A3):c.799C>T (p.Arg267Ter)
NM_001854.4(COL11A1):c.1676G>A (p.Gly559Asp)
NM_001854.4(COL11A1):c.2522G>T (p.Gly841Val) rs1663311706
NM_001854.4(COL11A1):c.2709+1G>A
NM_001854.4(COL11A1):c.2916+1G>A rs2101595036
NM_001854.4(COL11A1):c.3169-2A>G
NM_001854.4(COL11A1):c.3438+2T>C
NM_001854.4(COL11A1):c.3492+1_3492+3del
NM_001854.4(COL11A1):c.4303-1G>C
NM_001854.4(COL11A1):c.4323_4340del (p.Leu1442_Gly1447del)
NM_001854.4(COL11A1):c.4357G>C (p.Gly1453Arg)
NM_001876.4(CPT1A):c.1593_1594del (p.Glu531fs)
NM_001903.5(CTNNA1):c.2433+215_2433+218del
NM_001904.4(CTNNB1):c.1954+1G>A
NM_001904.4(CTNNB1):c.2076G>T (p.Glu692Asp)
NM_001904.4(CTNNB1):c.727del (p.Met243fs)
NM_001918.5(DBT):c.1210-62_1220delinsATCTAAAAAAATAGATCA
NM_001927.4(DES):c.400_410del (p.Ala134fs)
NM_001927.4(DES):c.948_952del (p.Lys318fs) rs2125168194
NM_001930.4(DHPS):c.912_917del (p.Tyr305_Ile306del) rs1568317152
NM_001940.4(ATN1):c.3182TGCACC[1] (p.1061LH[1]) rs2138219961
NM_001942.4(DSG1):c.2041del (p.Ser680_Met681insTer)
NM_001953.5(TYMP):c.1128_1153del (p.Glu377fs) rs1200526412
NM_001953.5(TYMP):c.516+2T>A rs797044454
NM_001958.5(EEF1A2):c.754G>A (p.Asp252Asn)
NM_001972.4(ELANE):c.133G>C (p.Val45Leu)
NM_001972.4(ELANE):c.157C>G (p.His53Asp)
NM_001972.4(ELANE):c.251T>C (p.Leu84Pro) rs1064793108
NM_001972.4(ELANE):c.308G>T (p.Arg103Leu) rs745455816
NM_001982.4(ERBB3):c.1330C>T (p.Arg444Ter)
NM_001982.4(ERBB3):c.1881_1891del (p.Asp628fs)
NM_001987.5(ETV6):c.1288C>T (p.Arg430Ter) rs1437274494
NM_001987.5(ETV6):c.313C>T (p.Arg105Ter) rs1946357179
NM_001987.5(ETV6):c.737del (p.Pro246fs)
NM_001987.5(ETV6):c.921_922del (p.His308fs)
NM_001994.3(F13B):c.1053dup (p.Lys352Ter)
NM_001999.4(FBN2):c.3472+1G>A rs1554123136
NM_002016.2(FLG):c.1297_1298del (p.Asp433fs) rs761877421
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002016.2(FLG):c.2427G>A (p.Trp809Ter) rs745516434
NM_002049.4(GATA1):c.169_170insGCTGCAGGGTG (p.Ala57fs)
NM_002049.4(GATA1):c.189C>A (p.Tyr63Ter)
NM_002049.4(GATA1):c.35C>G (p.Ser12Ter) rs2062673416
NM_002049.4(GATA1):c.646C>T (p.Arg216Trp) rs387907207
NM_002055.5(GFAP):c.1078G>T (p.Asp360Tyr)
NM_002076.4(GNS):c.1201-2A>G
NM_002087.4(GRN):c.1072C>T (p.Gln358Ter) rs1555611293
NM_002087.4(GRN):c.232dup (p.Ser78fs) rs1567885658
NM_002087.4(GRN):c.900_901dup (p.Ser301fs)
NM_002103.5(GYS1):c.636C>A (p.Tyr212Ter)
NM_002156.5(HSPD1):c.188T>C (p.Ile63Thr)
NM_002180.3(IGHMBP2):c.408_409del (p.Leu137fs)
NM_002204.4(ITGA3):c.2794C>T (p.Arg932Ter)
NM_002204.4(ITGA3):c.826C>T (p.Arg276Ter)
NM_002224.4(ITPR3):c.7570C>T (p.Arg2524Cys)
NM_002292.4(LAMB2):c.4907_4908del (p.Glu1636fs)
NM_002296.4(LBR):c.1430_1433del (p.Ser477fs)
NM_002299.4(LCT):c.2214del (p.Phe738fs)
NM_002299.4(LCT):c.4967_4976del (p.Asn1656fs) rs2077596325
NM_002299.4(LCT):c.805-1G>T
NM_002303.6(LEPR):c.1986_1990del (p.Leu663fs)
NM_002303.6(LEPR):c.2642G>T (p.Cys881Phe) rs992720162
NM_002334.4(LRP4):c.4230-2A>T
NM_002335.4(LRP5):c.3070_3071del (p.Arg1024fs)
NM_002336.3(LRP6):c.3586G>T (p.Glu1196Ter)
NM_002354.3(EPCAM):c.1A>G (p.Met1Val)
NM_002427.4(MMP13):c.772dup (p.Asp258fs) rs797044754
NM_002439.5(MSH3):c.1060dup (p.Val354fs) rs1580553669
NM_002439.5(MSH3):c.1148del (p.Lys383fs) rs587776701
NM_002439.5(MSH3):c.2068_2069dup (p.Asn690fs)
NM_002448.3(MSX1):c.547C>T (p.Gln183Ter)
NM_002454.3(MTRR):c.354_358del (p.Gly119fs) rs2126675707
NM_002470.4(MYH3):c.1123G>A (p.Glu375Lys) rs121913621
NM_002470.4(MYH3):c.1535T>C (p.Ile512Thr)
NM_002470.4(MYH3):c.2776_2779del (p.Arg926fs) rs766768674
NM_002470.4(MYH3):c.533+1G>A
NM_002473.6(MYH9):c.4302del (p.Ser1435fs)
NM_002473.6(MYH9):c.5793_5797dup (p.Arg1933fs)
NM_002473.6(MYH9):c.5796_5797dup (p.Arg1933fs)
NM_002485.5(NBN):c.210_211del (p.Asp70fs) rs786202494
NM_002485.5(NBN):c.48C>G (p.Tyr16Ter) rs2129926091
NM_002485.5(NBN):c.995-2A>G rs876659521
NM_002500.5(NEUROD1):c.616dup (p.His206fs) rs387906384
NM_002510.3(GPNMB):c.701-2A>C
NM_002516.4(NOVA2):c.1104_1134del (p.Gly369fs)
NM_002524.5(NRAS):c.34_35delinsTT (p.Gly12Phe)
NM_002526.4(NT5E):c.1428C>A (p.Cys476Ter)
NM_002526.4(NT5E):c.1608dup (p.Val537fs) rs774200574
NM_002547.3(OPHN1):c.931C>T (p.Gln311Ter)
NM_002576.5(PAK1):c.262G>A (p.Gly88Ser)
NM_002582.4(PARN):c.1405+1G>T rs1288345334
NM_002585.4(PBX1):c.77T>A (p.Leu26Ter)
NM_002585.4(PBX1):c.863G>A (p.Arg288Gln)
NM_002615.7(SERPINF1):c.816_819del (p.Met272fs)
NM_002618.4(PEX13):c.433ATG[2] (p.Met147del)
NM_002633.3(PGM1):c.871G>A (p.Gly291Arg)
NM_002637.4(PHKA1):c.2911C>T (p.Arg971Ter)
NM_002655.3(PLAG1):c.1075dup (p.Tyr359fs)
NM_002693.3(POLG):c.1716G>A (p.Trp572Ter) rs767709505
NM_002693.3(POLG):c.2265+1G>A
NM_002693.3(POLG):c.2437GTG[1] (p.Val814del) rs1596353095
NM_002693.3(POLG):c.3573G>T (p.Lys1191Asn) rs1085307741
NM_002715.4(PPP2CA):c.654C>A (p.Tyr218Ter)
NM_002715.4(PPP2CA):c.796T>C (p.Cys266Arg)
NM_002745.5(MAPK1):c.241G>A (p.Glu81Lys)
NM_002772.3(TMPRSS15):c.1654+2T>C
NM_002772.3(TMPRSS15):c.2486+1G>A
NM_002775.5(HTRA1):c.1156C>T (p.Arg386Ter)
NM_002778.4(PSAP):c.643A>C (p.Asn215His) rs121918107
NM_002816.5(PSMD12):c.435_438del (p.Thr146fs)
NM_002834.5(PTPN11):c.1382C>G (p.Ala461Gly) rs397509344
NM_002834.5(PTPN11):c.329A>G (p.Glu110Gly) rs397507519
NM_002834.5(PTPN11):c.717delinsAGATAAAGTTTG (p.Thr240fs)
NM_002834.5(PTPN11):c.853T>G (p.Phe285Val) rs397507531
NM_002860.4(ALDH18A1):c.809-1G>C rs1202802893
NM_002875.5(RAD51):c.53_69delinsTATCTTCTT (p.Glu18fs)
NM_002875.5(RAD51):c.877G>A (p.Ala293Thr) rs1057519413
NM_002887.4(RARS1):c.1795del (p.Asp599fs)
NM_002890.3(RASA1):c.1486del (p.Ile496fs)
NM_002890.3(RASA1):c.1611-2A>G
NM_002890.3(RASA1):c.1804G>T (p.Glu602Ter)
NM_002890.3(RASA1):c.2184+1G>A
NM_002890.3(RASA1):c.2708G>A (p.Arg903Gln) rs2112509032
NM_002890.3(RASA1):c.3073_3082del (p.Lys1025fs)
NM_002900.3(RBP3):c.3354dup (p.Val1119fs)
NM_002941.4(ROBO1):c.2168G>A (p.Trp723Ter)
NM_002941.4(ROBO1):c.455dup (p.Tyr152Ter)
NM_002968.3(SALL1):c.2225_2226del (p.Ala742fs)
NM_002968.3(SALL1):c.242del (p.Pro81fs)
NM_002972.4(SBF1):c.1011+2T>C
NM_002972.4(SBF1):c.5394_5395del (p.Ala1799fs) rs1234122324
NM_003002.4(SDHD):c.317G>T (p.Gly106Val) rs1555187574
NM_003038.5(SLC1A4):c.634-1G>C
NM_003041.4(SLC5A2):c.1407del (p.Val470fs)
NM_003041.4(SLC5A2):c.1555_1576del (p.Ala519fs)
NM_003041.4(SLC5A2):c.1593del (p.Ile531fs)
NM_003041.4(SLC5A2):c.506del (p.Ala169fs)
NM_003041.4(SLC5A2):c.872G>A (p.Trp291Ter)
NM_003042.4(SLC6A1):c.1188C>A (p.Ser396Arg)
NM_003042.4(SLC6A1):c.331G>A (p.Gly111Arg) rs1559622516
NM_003042.4(SLC6A1):c.695_696delinsTG (p.Gly232Val)
NM_003049.4(SLC10A1):c.397_403del (p.Met133fs)
NM_003049.4(SLC10A1):c.4G>T (p.Glu2Ter)
NM_003049.4(SLC10A1):c.615_618del (p.Ser206fs)
NM_003060.4(SLC22A5):c.791C>G (p.Thr264Arg) rs201262157
NM_003070.5(SMARCA2):c.1553T>C (p.Ile518Thr) rs1820558146
NM_003070.5(SMARCA2):c.3101G>A (p.Gly1034Asp)
NM_003072.5(SMARCA4):c.2896C>T (p.Arg966Trp) rs1227826852
NM_003072.5(SMARCA4):c.2900G>A (p.Arg967His) rs1085307769
NM_003072.5(SMARCA4):c.2933G>A (p.Arg978Gln) rs1180804356
NM_003106.4(SOX2):c.278dup (p.Ala94fs)
NM_003107.3(SOX4):c.780_781del (p.Tyr260_Lys261delinsTer)
NM_003108.4(SOX11):c.148A>G (p.Lys50Glu)
NM_003108.4(SOX11):c.361C>T (p.Arg121Trp)
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu) rs864622507
NM_003126.4(SPTA1):c.1677+1G>T
NM_003126.4(SPTA1):c.2173C>T (p.Arg725Ter) rs2101900643
NM_003126.4(SPTA1):c.3730dup (p.Glu1244fs)
NM_003126.4(SPTA1):c.6291del (p.Asp2098fs)
NM_003126.4(SPTA1):c.6530+1G>T
NM_003128.3(SPTBN1):c.3007C>T (p.Arg1003Trp) rs2103938644
NM_003140.3(SRY):c.272G>C (p.Ser91Thr)
NM_003235.5(TG):c.5729_5730del (p.Thr1910fs)
NM_003235.5(TG):c.5976-2A>C
NM_003239.5(TGFB3):c.156del (p.Arg52fs)
NM_003239.5(TGFB3):c.202C>T (p.Gln68Ter)
NM_003242.6(TGFBR2):c.1066C>T (p.Arg356Trp) rs199660234
NM_003242.6(TGFBR2):c.1336G>A (p.Asp446Asn) rs886039551
NM_003242.6(TGFBR2):c.1591G>A (p.Ala531Thr) rs727503477
NM_003289.4(TPM2):c.836dup (p.Asn279fs)
NM_003361.4(UMOD):c.307G>T (p.Gly103Cys) rs28934584
NM_003361.4(UMOD):c.442T>A (p.Cys148Ser)
NM_003376.6(VEGFA):c.576_589del (p.Ala193fs)
NM_003383.5(VLDLR):c.826C>T (p.Arg276Ter)
NM_003413.4(ZIC3):c.627dup (p.Tyr210fs)
NM_003470.3(USP7):c.901C>G (p.Arg301Gly)
NM_003482.4(KMT2D):c.1002del (p.Asn336fs)
NM_003482.4(KMT2D):c.10574T>C (p.Leu3525Pro) rs1555189307
NM_003482.4(KMT2D):c.10690C>G (p.Leu3564Val)
NM_003482.4(KMT2D):c.10763A>G (p.His3588Arg)
NM_003482.4(KMT2D):c.10957G>T (p.Gly3653Ter)
NM_003482.4(KMT2D):c.15171G>A (p.Trp5057Ter) rs1942616266
NM_003482.4(KMT2D):c.15458G>A (p.Arg5153Gln)
NM_003482.4(KMT2D):c.15947del (p.Asn5316fs)
NM_003482.4(KMT2D):c.175A>G (p.Ser59Gly) rs1555198862
NM_003542.4(H4C3):c.297T>G (p.Tyr99Ter)
NM_003545.4(H4C5):c.232A>C (p.Lys78Gln)
NM_003560.4(PLA2G6):c.1454GAG[2] (p.Gly487del)
NM_003590.5(CUL3):c.1103_1106del (p.Gln368fs)
NM_003590.5(CUL3):c.1349C>T (p.Ser450Phe)
NM_003590.5(CUL3):c.2281C>T (p.Arg761Cys)
NM_003611.3(OFD1):c.442G>C (p.Ala148Pro)
NM_003620.4(PPM1D):c.1434C>A (p.Cys478Ter)
NM_003647.3(DGKE):c.1442dup (p.Val482fs) rs1567825026
NM_003664.5(AP3B1):c.3154del (p.Ser1052fs)
NM_003718.5(CDK13):c.1618_1619del (p.Lys540fs)
NM_003718.5(CDK13):c.2668C>T (p.Arg890Ter)
NM_003718.5(CDK13):c.476dup (p.Ala162fs)
NM_003718.5(CDK13):c.900C>G (p.Tyr300Ter)
NM_003721.4(RFXANK):c.194_198del (p.Ser65fs)
NM_003721.4(RFXANK):c.419_438+38del rs1568579997
NM_003722.5(TP63):c.1769C>T (p.Pro590Leu) rs2108873027
NM_003722.5(TP63):c.739C>G (p.His247Asp)
NM_003722.5(TP63):c.944G>A (p.Gly315Glu)
NM_003722.5(TP63):c.970_972del (p.Ile324del) rs2108804508
NM_003742.4(ABCB11):c.2086C>T (p.Arg696Trp)
NM_003742.4(ABCB11):c.2319dup (p.Phe774fs) rs1692870573
NM_003742.4(ABCB11):c.390-1G>T rs1558917090
NM_003742.4(ABCB11):c.677C>T (p.Ser226Leu) rs1382100120
NM_003742.4(ABCB11):c.717G>A (p.Trp239Ter)
NM_003784.4(SERPINB7):c.54_55del (p.Glu18fs)
NM_003793.4(CTSF):c.693T>A (p.Tyr231Ter)
NM_003801.4(GPAA1):c.1177_1178del (p.Trp393fs)
NM_003801.4(GPAA1):c.1256C>G (p.Ser419Ter) rs372939605
NM_003850.3(SUCLA2):c.920C>T (p.Ala307Val) rs1011464708
NM_003868.3(FGF16):c.412C>T (p.Gln138Ter)
NM_003900.5(SQSTM1):c.1005_1006insC (p.Asp336fs)
NM_003906.5(MCM3AP):c.4159del (p.Val1387fs)
NM_003907.3(EIF2B5):c.203T>C (p.Leu68Ser) rs113994044
NM_003922.4(HERC1):c.4396C>T (p.Arg1466Ter)
NM_003924.4(PHOX2B):c.241+1G>A rs2153113036
NM_003937.3(KYNU):c.373_373+3del
NM_003982.4(SLC7A7):c.999-1G>T
NM_003998.4(NFKB1):c.128dup (p.Tyr44fs)
NM_003998.4(NFKB1):c.259-1G>C
NM_003998.4(NFKB1):c.945_949delinsTGG (p.Lys315fs)
NM_004006.3(DMD):c.3432+2036A>G rs182575709
NM_004064.5(CDKN1B):c.229C>T (p.Gln77Ter)
NM_004069.6(AP2S1):c.28C>T (p.Arg10Trp) rs1064795235
NM_004092.4(ECHS1):c.197T>C (p.Ile66Thr)
NM_004092.4(ECHS1):c.89-2A>G
NM_004100.5(EYA4):c.1411_1412del (p.Val471fs)
NM_004115.4(FGF14):c.408+1G>A
NM_004183.4(BEST1):c.103G>A (p.Glu35Lys) rs886041142
NM_004187.5(KDM5C):c.1277G>A (p.Trp426Ter)
NM_004204.5(PIGQ):c.1134_1143del (p.Ala377_Cys378insTer)
NM_004204.5(PIGQ):c.1215T>G (p.Tyr405Ter)
NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp) rs724160020
NM_004211.5(SLC6A5):c.1688G>A (p.Trp563Ter)
NM_004239.4(TRIP11):c.4036C>T (p.Gln1346Ter)
NM_004247.4(EFTUD2):c.1481G>A (p.Gly494Asp)
NM_004247.4(EFTUD2):c.2539del (p.Tyr847fs)
NM_004260.4(RECQL4):c.2201-1G>A
NM_004304.5(ALK):c.3521T>G (p.Phe1174Cys) rs1057519697
NM_004312.3(ARR3):c.330C>A (p.Tyr110Ter)
NM_004366.6(CLCN2):c.1855+2T>C
NM_004366.6(CLCN2):c.2271+1_2271+2delinsCA
NM_004369.4(COL6A3):c.4789C>T (p.Arg1597Ter)
NM_004369.4(COL6A3):c.5281del (p.Asp1761fs)
NM_004370.6(COL12A1):c.2179C>T (p.Arg727Ter) rs1064796670
NM_004370.6(COL12A1):c.3959C>G (p.Ser1320Ter)
NM_004380.3(CREBBP):c.3500A>G (p.Tyr1167Cys) rs587783481
NM_004380.3(CREBBP):c.5357G>C (p.Arg1786Pro)
NM_004380.3(CREBBP):c.5608G>C (p.Ala1870Pro)
NM_004387.4(NKX2-5):c.783del (p.Ala262fs) rs587784067
NM_004408.4(DNM1):c.179G>A (p.Gly60Glu)
NM_004415.4(DSP):c.2130+1G>A rs727505115
NM_004415.4(DSP):c.243del (p.Cys81_Leu82insTer)
NM_004415.4(DSP):c.44_68del (p.Gly15fs)
NM_004415.4(DSP):c.5476A>T (p.Lys1826Ter)
NM_004415.4(DSP):c.6792C>A (p.Tyr2264Ter)
NM_004425.4(ECM1):c.233del (p.Pro78fs) rs768474010
NM_004425.4(ECM1):c.240_241del (p.Gln81fs)
NM_004429.5(EFNB1):c.35G>A (p.Trp12Ter)
NM_004431.5(EPHA2):c.2928_2929del (p.Ile976fs)
NM_004444.5(EPHB4):c.1087G>T (p.Glu363Ter)
NM_004444.5(EPHB4):c.1573C>T (p.Gln525Ter)
NM_004444.5(EPHB4):c.1609C>T (p.Gln537Ter) rs2116435260
NM_004444.5(EPHB4):c.2353C>T (p.Arg785Ter)
NM_004444.5(EPHB4):c.2459C>T (p.Pro820Leu) rs1584653650
NM_004444.5(EPHB4):c.2485-1G>A
NM_004444.5(EPHB4):c.717_727del (p.Cys239fs)
NM_004453.4(ETFDH):c.151del (p.Arg51fs)
NM_004453.4(ETFDH):c.1831G>A (p.Gly611Arg)
NM_004453.4(ETFDH):c.302_303dup (p.Leu102fs) rs796051962
NM_004456.5(EZH2):c.835C>T (p.His279Tyr)
NM_004463.3(FGD1):c.1076del (p.Leu359fs)
NM_004463.3(FGD1):c.1555C>T (p.Arg519Cys) rs1557189252
NM_004463.3(FGD1):c.1556G>A (p.Arg519His) rs398124157