ClinVar Miner

List of variants reported by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2002
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HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly) rs139548132 0.00360
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg) rs104893836 0.00234
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp) rs34424986 0.00226
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255 0.00223
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_002591.4(PCK1):c.925G>A (p.Gly309Arg) rs201186470 0.00113
NM_032317.3(DNAJC30):c.152A>G (p.Tyr51Cys) rs61732167 0.00112
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00103
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636 0.00100
NM_024063.3(AFG2B):c.527G>T (p.Gly176Val) rs145451123 0.00098
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) rs142572218 0.00088
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp) rs114368325 0.00079
NM_020745.4(AARS2):c.1534G>C (p.Asp512His) rs146512155 0.00073
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00072
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His) rs119484086 0.00064
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln) rs146251364 0.00063
NM_001201427.2(DAAM2):c.3083C>T (p.Ser1028Leu) rs111950018 0.00062
NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu) rs199690076 0.00059
NM_148897.3(SDR9C7):c.551A>G (p.Asp184Gly) rs138435128 0.00058
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu) rs139260335 0.00057
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln) rs74315342 0.00054
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) rs80356682 0.00049
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys) rs137854529 0.00049
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641 0.00048
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys) rs28933693 0.00046
NM_000487.6(ARSA):c.465+1G>A rs80338815 0.00046
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_001079866.2(BCS1L):c.232A>G (p.Ser78Gly) rs28937590 0.00042
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_001015880.2(PAPSS2):c.809G>A (p.Gly270Asp) rs138943074 0.00038
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584 0.00036
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00035
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_012123.4(MTO1):c.1430G>A (p.Arg477His) rs201544686 0.00028
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys) rs80356540 0.00028
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs) rs80356491 0.00026
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro) rs139632595 0.00026
NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser) rs201842633 0.00025
NM_020745.4(AARS2):c.1774C>T (p.Arg592Trp) rs138119149 0.00025
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg) rs137852959 0.00024
NM_152743.4(BRAT1):c.294dup (p.Leu99fs) rs776913277 0.00022
NM_001144869.3(LIPT2):c.377T>G (p.Leu126Arg) rs753904927 0.00020
NM_024339.5(THOC6):c.298T>A (p.Trp100Arg) rs138632121 0.00020
NM_024339.5(THOC6):c.700G>C (p.Val234Leu) rs150940923 0.00020
NM_024339.5(THOC6):c.824G>A (p.Gly275Asp) rs200426926 0.00020
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_000083.3(CLCN1):c.180+3A>T rs202217420 0.00019
NM_000159.4(GCDH):c.1213A>G (p.Met405Val) rs141437721 0.00018
NM_000431.4(MVK):c.803T>C (p.Ile268Thr) rs104895304 0.00018
NM_000823.4(GHRHR):c.214G>T (p.Glu72Ter) rs121918117 0.00018
NM_005142.3(CBLIF):c.79+1G>A rs147785187 0.00017
NM_016035.5(COQ4):c.718C>T (p.Arg240Cys) rs143441644 0.00017
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054 0.00016
NM_147191.1(MMP21):c.1372C>T (p.Arg458Ter) rs145119918 0.00016
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp) rs201725369 0.00016
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) rs121907954 0.00015
NM_000360.4(TH):c.605G>A (p.Arg202His) rs80338892 0.00014
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) rs121918358 0.00014
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu) rs120074167 0.00013
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val) rs150321966 0.00012
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) rs118192172 0.00011
NM_005138.3(SCO2):c.418G>A (p.Glu140Lys) rs74315511 0.00011
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu) rs751459058 0.00011
NM_007059.4(KPTN):c.776C>A (p.Ser259Ter) rs374298314 0.00011
NM_017825.3(ADPRS):c.1004T>G (p.Val335Gly) rs201735454 0.00011
NM_017866.6(TMEM70):c.317-2A>G rs183973249 0.00011
NM_020442.6(VARS2):c.511C>T (p.Arg171Trp) rs139515727 0.00011
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu) rs143031195 0.00011
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565 0.00011
NM_182476.3(COQ6):c.782C>T (p.Pro261Leu) rs371260604 0.00011
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu) rs543206298 0.00010
NM_001110792.2(MECP2):c.1199dup (p.Pro401fs) rs267608339 0.00010
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) rs121909011 0.00009
NM_001379228.1(MRAP):c.3G>A (p.Met1Ile) rs80358231 0.00009
NM_002979.5(SCP2):c.825+1G>T rs144132787 0.00009
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln) rs149712244 0.00009
NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg) rs375032130 0.00009
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) rs199826737 0.00009
NM_022445.4(TPK1):c.501+4A>T rs375169579 0.00009
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr) rs267607119 0.00009
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569 0.00009
NM_000092.5(COL4A4):c.3044G>A (p.Gly1015Glu) rs764323652 0.00008
NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter) rs200056620 0.00008
NM_001277115.2(DNAH11):c.8698C>T (p.Arg2900Ter) rs368260932 0.00008
NM_004820.5(CYP7B1):c.825T>A (p.Tyr275Ter) rs121908613 0.00008
NM_018294.6(CWF19L1):c.665G>A (p.Arg222Gln) rs772697259 0.00008
NM_001363711.2(DUOX2):c.1300C>T (p.Arg434Ter) rs119472026 0.00007
NM_001384732.1(CPLANE1):c.493del (p.Ile165fs) rs606231259 0.00007
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_000782.5(CYP24A1):c.1187G>A (p.Arg396Gln) rs143934667 0.00006
NM_001164508.2(NEB):c.3255+1G>A rs375628303 0.00006
NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp) rs374434303 0.00006
NM_001303.4(COX10):c.1007A>T (p.Asp336Val) rs104894557 0.00006
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr) rs752623413 0.00006
NM_003124.5(SPR):c.524C>A (p.Ala175Asp) rs1453510719 0.00006
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680 0.00006
NM_004092.4(ECHS1):c.583G>A (p.Gly195Ser) rs761989177 0.00006
NM_016011.4(MECR):c.772C>T (p.Arg258Trp) rs145192716 0.00006
NM_018127.7(ELAC2):c.2009del (p.Cys670fs) rs761385155 0.00006
NM_024678.6(NARS2):c.418C>T (p.Arg140Ter) rs1057524183 0.00006
NM_025243.4(SLC19A3):c.541T>C (p.Ser181Pro) rs773971505 0.00006
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_176787.5(PIGN):c.2284-1G>C rs760977825 0.00006
NM_000404.4(GLB1):c.602G>A (p.Arg201His) rs189115557 0.00005
NM_000520.6(HEXA):c.533G>A (p.Arg178His) rs28941770 0.00005
NM_001199107.2(TBC1D24):c.1008del (p.His336fs) rs398122967 0.00005
NM_002861.5(PCYT2):c.1075C>T (p.Arg359Ter) rs377278120 0.00005
NM_004279.3(PMPCB):c.524G>A (p.Arg175His) rs200188353 0.00005
NM_005149.3(TBX19):c.856C>T (p.Arg286Ter) rs74315376 0.00005
NM_020320.5(RARS2):c.1544A>G (p.Asp515Gly) rs765088174 0.00005
NM_024306.5(FA2H):c.1119A>T (p.Ter373Cys) rs758814013 0.00005
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_176787.5(PIGN):c.932T>G (p.Leu311Trp) rs746882521 0.00005
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000157.4(GBA1):c.928A>G (p.Ser310Gly) rs1057942 0.00004
NM_000159.4(GCDH):c.1093G>A (p.Glu365Lys) rs121434370 0.00004
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000444.6(PHEX):c.1359A>C (p.Glu453Asp) rs202164519 0.00004
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) rs118192177 0.00004
NM_001164508.2(NEB):c.9619-2A>G rs375145370 0.00004
NM_001177316.2(SLC34A3):c.304+2T>C rs201293634 0.00004
NM_001177316.2(SLC34A3):c.846G>A (p.Pro282=) rs121918236 0.00004
NM_001282225.2(ADA2):c.752C>T (p.Pro251Leu) rs148936893 0.00004
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) rs121918044 0.00004
NM_002900.3(RBP3):c.3341G>A (p.Arg1114Gln) rs201185969 0.00004
NM_003620.4(PPM1D):c.1654C>T (p.Arg552Ter) rs779070661 0.00004
NM_004425.4(ECM1):c.499T>A (p.Phe167Ile) rs121909116 0.00004
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met) rs121913659 0.00004
NM_007103.4(NDUFV1):c.248C>T (p.Ser83Leu) rs779150755 0.00004
NM_012123.4(MTO1):c.1450C>T (p.Arg484Trp) rs748152539 0.00004
NM_012452.3(TNFRSF13B):c.198C>A (p.Cys66Ter) rs144718007 0.00004
NM_020320.5(RARS2):c.943C>T (p.Arg315Ter) rs199835443 0.00004
NM_021942.6(TRAPPC11):c.1287+5G>A rs397509418 0.00004
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp) rs148374859 0.00004
NM_032409.3(PINK1):c.1040T>C (p.Leu347Pro) rs28940285 0.00004
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter) rs398124478 0.00004
NM_176787.5(PIGN):c.2354G>A (p.Arg785His) rs535563062 0.00004
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter) rs773770609 0.00004
NM_182943.3(PLOD2):c.1280A>G (p.Asn427Ser) rs893004444 0.00004
NM_000029.4(AGT):c.1124G>A (p.Arg375Gln) rs74315283 0.00003
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg) rs777401300 0.00003
NM_000091.5(COL4A3):c.4825C>T (p.Arg1609Ter) rs756231749 0.00003
NM_000152.5(GAA):c.877G>A (p.Gly293Arg) rs121907945 0.00003
NM_000157.4(GBA1):c.762-1G>C rs1237637353 0.00003
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His) rs199473011 0.00003
NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln) rs527236149 0.00003
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_001042432.2(CLN3):c.883G>A (p.Glu295Lys) rs121434286 0.00003
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val) rs2808001 0.00003
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp) rs398123061 0.00003
NM_001358921.2(COQ2):c.440G>A (p.Arg147His) rs121918231 0.00003
NM_002591.4(PCK1):c.724G>A (p.Gly242Arg) rs373906233 0.00003
NM_003119.4(SPG7):c.1552+1G>T rs141644720 0.00003
NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp) rs121908687 0.00003
NM_004092.4(ECHS1):c.488C>T (p.Pro163Leu) rs371582393 0.00003
NM_004366.6(CLCN2):c.1397-1G>A rs1478304584 0.00003
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter) rs80357123 0.00003
NM_007375.4(TARDBP):c.1147A>G (p.Ile383Val) rs80356740 0.00003
NM_012123.4(MTO1):c.1282G>A (p.Ala428Thr) rs143747297 0.00003
NM_012144.4(DNAI1):c.1543G>A (p.Gly515Ser) rs79833450 0.00003
NM_014297.5(ETHE1):c.586G>A (p.Asp196Asn) rs763799125 0.00003
NM_016589.4(TIMMDC1):c.524C>T (p.Thr175Met) rs370482859 0.00003
NM_020247.5(COQ8A):c.638G>A (p.Arg213Gln) rs767584322 0.00003
NM_024306.5(FA2H):c.133G>T (p.Gly45Trp) rs1247665387 0.00003
NM_024306.5(FA2H):c.968C>T (p.Pro323Leu) rs774131656 0.00003
NM_024678.6(NARS2):c.749G>A (p.Arg250Gln) rs150879145 0.00003
NM_148897.3(SDR9C7):c.599T>C (p.Ile200Thr) rs770729222 0.00003
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg) rs772708743 0.00002
NM_000132.4(F8):c.1748A>G (p.Asn583Ser) rs782657516 0.00002
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg) rs409652 0.00002
NM_000256.3(MYBPC3):c.26-2A>G rs376395543 0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_000404.4(GLB1):c.716C>T (p.Thr239Met) rs746766232 0.00002
NM_000454.5(SOD1):c.435G>C (p.Leu145Phe) rs1482760341 0.00002
NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp) rs193922803 0.00002
NM_000553.6(WRN):c.3913C>T (p.Arg1305Ter) rs121908446 0.00002
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter) rs113994129 0.00002
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser) rs137852972 0.00002
NM_001199107.2(TBC1D24):c.1525G>A (p.Gly509Arg) rs749994791 0.00002
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059 0.00002
NM_001358921.2(COQ2):c.287G>A (p.Ser96Asn) rs121918233 0.00002
NM_001377.3(DYNC2H1):c.11312C>T (p.Ala3771Val) rs760635983 0.00002
NM_001386393.1(PANK2):c.1253C>T (p.Thr418Met) rs137852967 0.00002
NM_002087.4(GRN):c.103G>A (p.Gly35Arg) rs533451404 0.00002
NM_002437.5(MPV17):c.376-9T>G rs368900406 0.00002
NM_002667.5(PLN):c.116T>G (p.Leu39Ter) rs111033560 0.00002
NM_004092.4(ECHS1):c.394G>A (p.Ala132Thr) rs770931871 0.00002
NM_004092.4(ECHS1):c.817A>G (p.Lys273Glu) rs565090080 0.00002
NM_004341.5(CAD):c.5365C>T (p.Arg1789Ter) rs62130681 0.00002
NM_004407.4(DMP1):c.55-1G>C rs587776697 0.00002
NM_004539.4(NARS1):c.1564C>T (p.Arg522Ter) rs747737475 0.00002
NM_004562.3(PRKN):c.758G>A (p.Cys253Tyr) rs747427602 0.00002
NM_005138.3(SCO2):c.178C>T (p.Arg60Trp) rs753779965 0.00002
NM_005591.4(MRE11):c.77T>C (p.Met26Thr) rs372068015 0.00002
NM_007055.4(POLR3A):c.3243-2A>G rs1462460124 0.00002
NM_012123.4(MTO1):c.1325G>A (p.Arg442Gln) rs765548847 0.00002
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00002
NM_016341.4(PLCE1):c.961C>T (p.Arg321Ter) rs267606954 0.00002
NM_018297.4(NGLY1):c.1025A>G (p.Tyr342Cys) rs757712371 0.00002
NM_020247.5(COQ8A):c.911C>T (p.Ala304Val) rs748118737 0.00002
NM_024063.3(AFG2B):c.1199C>T (p.Thr400Ile) rs1372719653 0.00002
NM_025114.4(CEP290):c.6277del (p.Val2093fs) rs771454167 0.00002
NM_025137.4(SPG11):c.704_705del (p.His235fs) rs312262719 0.00002
NM_032608.7(MYO18B):c.6433C>T (p.Arg2145Ter) rs753585568 0.00002
NM_080916.3(DGUOK):c.749T>C (p.Leu250Ser) rs749464475 0.00002
NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter) rs201082169 0.00002
NM_145207.3(AFG2A):c.394C>T (p.Gln132Ter) rs1220351376 0.00002
NM_148897.3(SDR9C7):c.658C>T (p.Arg220Ter) rs774363396 0.00002
NM_000051.4(ATM):c.1235+3A>G rs1417190414 0.00001
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys) rs202206540 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp) rs772226819 0.00001
NM_000083.3(CLCN1):c.871G>A (p.Glu291Lys) rs121912805 0.00001
NM_000091.5(COL4A3):c.1594G>T (p.Gly532Cys) rs779575469 0.00001
NM_000091.5(COL4A3):c.1669G>A (p.Gly557Arg) rs1457269547 0.00001
NM_000091.5(COL4A3):c.28C>T (p.Gln10Ter) rs1453590085 0.00001
NM_000091.5(COL4A3):c.3109C>T (p.Arg1037Ter) rs766900945 0.00001
NM_000092.5(COL4A4):c.1921C>T (p.Arg641Ter) rs778345125 0.00001
NM_000092.5(COL4A4):c.2690G>A (p.Gly897Glu) rs121912860 0.00001
NM_000092.5(COL4A4):c.4808T>C (p.Met1603Thr) rs377058706 0.00001
NM_000143.4(FH):c.1048C>T (p.Arg350Trp) rs755436052 0.00001
NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr) rs74500255 0.00001
NM_000159.4(GCDH):c.482G>A (p.Arg161Gln) rs777201305 0.00001
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser) rs199473428 0.00001
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs) rs397515990 0.00001
NM_000256.3(MYBPC3):c.3190+1G>A rs111683277 0.00001
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys) rs121913625 0.00001
NM_000271.5(NPC1):c.2196dup (p.Pro733fs) rs398123284 0.00001
NM_000334.4(SCN4A):c.1201C>T (p.Arg401Cys) rs1188070167 0.00001
NM_000334.4(SCN4A):c.2023C>T (p.Arg675Trp) rs121908556 0.00001
NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln) rs121908557 0.00001
NM_000406.3(GNRHR):c.350T>G (p.Leu117Arg) rs727505367 0.00001
NM_000431.4(MVK):c.604G>A (p.Gly202Arg) rs104895301 0.00001
NM_000518.5(HBB):c.92+5G>C rs33915217 0.00001
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys) rs28942071 0.00001
NM_000527.5(LDLR):c.846C>A (p.Phe282Leu) rs730882090 0.00001
NM_000530.8(MPZ):c.103G>A (p.Asp35Asn) rs121913596 0.00001
NM_001001563.5(TIMM50):c.664G>A (p.Ala222Thr) rs1305711807 0.00001
NM_001001563.5(TIMM50):c.715C>T (p.Arg239Trp) rs1449758112 0.00001
NM_001002755.4(NFU1):c.544C>T (p.Arg182Trp) rs1354126704 0.00001
NM_001002755.4(NFU1):c.545+5G>A rs756085990 0.00001
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs) rs1555455457 0.00001
NM_001080472.4(FITM2):c.694G>A (p.Gly232Arg) rs765281145 0.00001
NM_001082971.2(DDC):c.304G>A (p.Gly102Ser) rs137853207 0.00001
NM_001083614.2(EARS2):c.320G>A (p.Arg107His) rs1021330566 0.00001
NM_001127178.3(PIGG):c.910C>T (p.Arg304Ter) rs752545577 0.00001
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp) rs746243052 0.00001
NM_001144869.3(LIPT2):c.314T>G (p.Leu105Arg) rs1190703859 0.00001
NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp) rs121912683 0.00001
NM_001164277.2(SLC37A4):c.110C>A (p.Ser37Ter) rs1444468055 0.00001
NM_001166114.2(PNPLA6):c.1853C>T (p.Ala618Val) rs568356836 0.00001
NM_001170629.2(CHD8):c.4378C>T (p.Arg1460Ter) rs1454466097 0.00001
NM_001177316.2(SLC34A3):c.448+5G>A rs768893184 0.00001
NM_001244008.2(KIF1A):c.2909G>A (p.Arg970His) rs201742042 0.00001
NM_001277115.2(DNAH11):c.5695A>G (p.Lys1899Glu) rs1190944498 0.00001
NM_001281740.3(FHOD3):c.1583A>G (p.Tyr528Cys) rs2036159242 0.00001
NM_001330360.2(POLA1):c.1207G>A (p.Asp403Asn) rs774419889 0.00001
NM_001360.3(DHCR7):c.470T>C (p.Leu157Pro) rs753960624 0.00001
NM_001370658.1(BTD):c.124G>A (p.Val42Met) rs397507170 0.00001
NM_001379228.1(MRAP):c.106+1del rs1476574441 0.00001
NM_001379659.1(ZNF142):c.3775C>T (p.Arg1259Ter) rs546151500 0.00001
NM_001379659.1(ZNF142):c.5254C>T (p.Arg1752Cys) rs756225038 0.00001
NM_001510.4(GRID2):c.671G>A (p.Arg224Gln) rs368143665 0.00001
NM_001605.3(AARS1):c.2738G>A (p.Gly913Asp) rs369774476 0.00001
NM_001605.3(AARS1):c.988C>T (p.Arg330Ter) rs758183257 0.00001
NM_002074.5(GNB1):c.229G>A (p.Gly77Ser) rs758432471 0.00001
NM_002087.4(GRN):c.708+1G>A rs63749817 0.00001
NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter) rs372000714 0.00001
NM_002693.3(POLG):c.915C>G (p.Ser305Arg) rs769410130 0.00001
NM_002834.5(PTPN11):c.166A>G (p.Ile56Val) rs397507504 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_002860.4(ALDH18A1):c.2246G>A (p.Arg749Gln) rs748925635 0.00001
NM_003172.4(SURF1):c.752-1G>C rs1391748504 0.00001
NM_003285.3(TNR):c.1189G>A (p.Ala397Thr) rs750577544 0.00001
NM_003285.3(TNR):c.3574C>T (p.Arg1192Trp) rs1571308125 0.00001
NM_003477.3(PDHX):c.1336C>T (p.Arg446Ter) rs1135402725 0.00001
NM_003560.4(PLA2G6):c.1442T>A (p.Leu481Gln) rs587784330 0.00001
NM_003560.4(PLA2G6):c.986G>A (p.Arg329His) rs587784363 0.00001
NM_004092.4(ECHS1):c.676G>A (p.Ala226Thr) rs1318391499 0.00001
NM_004836.7(EIF2AK3):c.2707C>T (p.Arg903Ter) rs1178109063 0.00001
NM_004855.5(PIGB):c.392T>G (p.Leu131Ter) rs923907091 0.00001
NM_004870.4(MPDU1):c.218G>A (p.Gly73Glu) rs104894586 0.00001
NM_005050.4(ABCD4):c.556G>A (p.Gly186Arg) rs1410990711 0.00001
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413 0.00001
NM_005557.4(KRT16):c.379C>T (p.Arg127Cys) rs59856285 0.00001
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp) rs377225525 0.00001
NM_005633.4(SOS1):c.571G>A (p.Glu191Lys) rs886041241 0.00001
NM_005687.5(FARSB):c.226T>C (p.Cys76Arg) rs1419129874 0.00001
NM_005687.5(FARSB):c.755T>C (p.Phe252Ser) rs1466642025 0.00001
NM_005993.5(TBCD):c.2006+5G>A rs1284192515 0.00001
NM_005993.5(TBCD):c.3125C>T (p.Pro1042Leu) rs760635077 0.00001
NM_005993.5(TBCD):c.3307G>A (p.Gly1103Ser) rs772606107 0.00001
NM_006295.3(VARS1):c.1210C>T (p.Arg404Trp) rs749228986 0.00001
NM_006302.3(MOGS):c.1862dup (p.Ala621_Glu622insTer) rs1399649784 0.00001
NM_006346.4(PIBF1):c.1133A>C (p.His378Pro) rs147863910 0.00001
NM_006790.3(MYOT):c.179C>T (p.Ser60Phe) rs121908458 0.00001
NM_006796.3(AFG3L2):c.2065T>C (p.Tyr689His) rs1598820860 0.00001
NM_006907.4(PYCR1):c.755C>T (p.Ser252Phe) rs767581950 0.00001
NM_007055.4(POLR3A):c.601del (p.Ile201fs) rs777280350 0.00001
NM_007126.5(VCP):c.476G>A (p.Arg159His) rs121909335 0.00001
NM_012123.4(MTO1):c.1261-5T>G rs1275100093 0.00001
NM_012123.4(MTO1):c.938G>A (p.Arg313Gln) rs371179032 0.00001
NM_012210.4(TRIM32):c.1459G>A (p.Asp487Asn) rs111033570 0.00001
NM_013254.4(TBK1):c.992+1G>A rs1341055534 0.00001
NM_014239.4(EIF2B2):c.922G>A (p.Val308Met) rs372548739 0.00001
NM_014297.5(ETHE1):c.375+5G>A rs769259233 0.00001
NM_014297.5(ETHE1):c.554T>G (p.Leu185Arg) rs387906987 0.00001
NM_014336.5(AIPL1):c.265T>C (p.Cys89Arg) rs1264794214 0.00001
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn) rs1160357920 0.00001
NM_014625.4(NPHS2):c.538G>A (p.Val180Met) rs74315347 0.00001
NM_014714.4(IFT140):c.3788C>T (p.Pro1263Leu) rs775044452 0.00001
NM_014762.4(DHCR24):c.1504G>A (p.Ala502Thr) rs915474087 0.00001
NM_015046.7(SETX):c.5825T>C (p.Ile1942Thr) rs773379832 0.00001
NM_015046.7(SETX):c.6620A>T (p.Asp2207Val) rs1564482221 0.00001
NM_016035.5(COQ4):c.469C>A (p.Gln157Lys) rs1045118320 0.00001
NM_016580.4(PCDH12):c.451C>T (p.Arg151Ter) rs1175979418 0.00001
NM_017547.4(FOXRED1):c.406C>T (p.Arg136Trp) rs373075574 0.00001
NM_017866.6(TMEM70):c.105dup (p.Val36fs) rs1411381518 0.00001
NM_018389.5(SLC35C1):c.872C>T (p.Thr291Ile) rs751828447 0.00001
NM_018946.4(NANS):c.448+1G>A rs779218846 0.00001
NM_019597.5(HNRNPH2):c.85C>T (p.Arg29Cys) rs1555988314 0.00001
NM_020442.6(VARS2):c.1010C>T (p.Thr337Ile) rs587777585 0.00001
NM_020549.5(CHAT):c.1258C>T (p.Arg420Cys) rs121912822 0.00001
NM_020638.3(FGF23):c.211A>G (p.Ser71Gly) rs104894342 0.00001
NM_020745.4(AARS2):c.1561C>T (p.Arg521Ter) rs587777591 0.00001
NM_020745.4(AARS2):c.985C>T (p.Arg329Cys) rs200187887 0.00001
NM_020919.4(ALS2):c.1867_1868del (p.Leu623fs) rs386134181 0.00001
NM_020964.3(EPG5):c.7447C>T (p.Arg2483Ter) rs863225064 0.00001
NM_021222.3(PRUNE1):c.316G>A (p.Asp106Asn) rs773618224 0.00001
NM_021625.5(TRPV4):c.935C>T (p.Ala312Val) rs751139506 0.00001
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser) rs863223921 0.00001
NM_022575.4(VPS16):c.1903C>T (p.Arg635Ter) rs1422519039 0.00001
NM_024306.5(FA2H):c.806G>A (p.Arg269His) rs1429546236 0.00001
NM_024996.7(GFM1):c.700C>T (p.Arg234Ter) rs863224032 0.00001
NM_024996.7(GFM1):c.748C>T (p.Arg250Trp) rs139430866 0.00001
NM_025137.4(SPG11):c.4307_4308del (p.Gln1436fs) rs312262759 0.00001
NM_025137.4(SPG11):c.5986dup (p.Cys1996fs) rs312262775 0.00001
NM_032620.4(GTPBP3):c.440C>T (p.Ala147Val) rs774708853 0.00001
NM_032756.4(HPDL):c.149G>A (p.Gly50Asp) rs1391712320 0.00001
NM_033337.3(CAV3):c.80G>A (p.Arg27Gln) rs116840778 0.00001
NM_052845.4(MMAB):c.197-1G>T rs763935916 0.00001
NM_057175.5(NAA15):c.382C>T (p.Arg128Ter) rs1274633498 0.00001
NM_080916.3(DGUOK):c.155C>T (p.Ser52Phe) rs1204316787 0.00001
NM_139119.3(YY1AP1):c.250C>T (p.Gln84Ter) rs1057519599 0.00001
NM_139119.3(YY1AP1):c.412-1G>A rs199653824 0.00001
NM_145870.3(GSTZ1):c.136-2A>G rs1303562049 0.00001
NM_147191.1(MMP21):c.281G>C (p.Arg94Pro) rs912256328 0.00001
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter) rs121918327 0.00001
NM_153717.3(EVC):c.2894+3A>G rs1424976594 0.00001
NM_153717.3(EVC):c.919T>C (p.Ser307Pro) rs121908426 0.00001
NM_176787.5(PIGN):c.2062A>C (p.Ser688Arg) rs1251827296 0.00001
NM_176787.5(PIGN):c.996T>G (p.Ile332Met) rs1060499763 0.00001
NM_177550.5(SLC13A5):c.425C>T (p.Thr142Met) rs761917087 0.00001
NM_178526.5(SLC25A42):c.380+2T>A rs1247424432 0.00001
NM_181789.4(GLDN):c.1305G>A (p.Trp435Ter) rs775011495 0.00001
NM_182961.4(SYNE1):c.20263C>T (p.Arg6755Ter) rs780451185 0.00001
NM_198252.3(GSN):c.487G>A (p.Asp163Asn) rs121909715 0.00001
NM_206937.2(LIG4):c.833G>A (p.Arg278His) rs104894421 0.00001
NM_213599.3(ANO5):c.169C>T (p.Arg57Trp) rs1323349209 0.00001
NM_213649.2(SFXN4):c.414+1G>A rs1380193482 0.00001
GRCh37/hg19 11p15.1(chr11:18418095-18422557)
GRCh37/hg19 11q21(chr11:94153291-94170401)
GRCh37/hg19 12q14.2(chr12:64868010-64895161)
GRCh37/hg19 12q24.31(chr12:123738222-123738503)
GRCh37/hg19 13q33.1(chr13:102521075-102568995)
GRCh37/hg19 14q32.2(chr14:100317190-101012999)
GRCh37/hg19 15q12-13.1(chr15:27571956-28600013)
GRCh37/hg19 16p11.2(chr16:28497668-28497971)
GRCh37/hg19 16p13.3(chr16:1568217-1570809)
GRCh37/hg19 16p13.3(chr16:2140675-2140809)
GRCh37/hg19 16p13.3(chr16:2162341-2203046)
GRCh37/hg19 16q23.1(chr16:78198080-78198186)
GRCh37/hg19 16q24.1-24.2(chr16:84872102-87678641)
GRCh37/hg19 16q24.2(chr16:87969915-87970056)
GRCh37/hg19 1p36.33-36.23(chr1:762080-7309686)
GRCh37/hg19 1q21.3(chr1:150990288-151016203)
GRCh37/hg19 1q22(chr1:155188179-155209868)
GRCh37/hg19 20p13(chr20:3888573-3888925)
GRCh37/hg19 2q23.3(chr2:152502644-152502748)
GRCh37/hg19 2q24.3(chr2:166767837-167334206)
GRCh37/hg19 2q31.1(chr2:172644081-172644457)
GRCh37/hg19 2q36.3(chr2:227942610-227945265)
GRCh37/hg19 2q36.3(chr2:228167754-228169799)
GRCh37/hg19 3q29(chr3:196033814-196033883)
GRCh37/hg19 5q23.1(chr5:118811401-118814716)
GRCh37/hg19 6p25.1(chr6:5545413-5545573)
GRCh37/hg19 6q26(chr6:162137107-162137163)
GRCh37/hg19 7p22.1(chr7:5692044-5692141)
GRCh37/hg19 7q21.3(chr7:93516132-95668733)
GRCh37/hg19 8q22.2(chr8:100123326-100182391)
GRCh37/hg19 9p13.3(chr9:35799615-35808850)
GRCh37/hg19 Xp21.1(chrX:31792077-31893490)
GRCh37/hg19 Xp21.2(chrX:29686547-29686621)
GRCh37/hg19 Xq22.3(chrX:107683356-107683436)
Multiple alleles
NC_000001.11:g.29203234del rs1574315873
NC_000016.10:g.2092048_2092049dup rs1596482597
NC_000018.9(TXNL4A):g.77748604_77748637del34 rs786205699
NC_000023.10:g.(22051242_22056586)_(22056656_22065167)del
NC_000023.10:g.(22065330_22094505)_(22095821_22108546)del
NC_000023.10:g.(22094593_22095593)_(22095821_22108546)del
NC_000023.10:g.(22095821_22108546)_(22108616_22112100)del
NC_000023.10:g.(22115157_22117149)_(22117270_22129584)del
NC_000023.10:g.(22117270_22129584)_(22132705_22151639)del
NC_000023.10:g.(22132705_22151639)_(22151742_22186428)del
NC_000023.10:g.(22186507_22196389)_(22231076_22237152)del
NC_000023.10:g.(22208620_22231047)_(22266070_?)del
NC_000023.10:g.(22237221_22239729)_(22239861_22244559)del
NC_000023.10:g.(22237221_22239729)_(22266070_?)del
NC_000023.10:g.(22239861_22244559)_(22266070_?)del
NC_000023.10:g.(22245729_22263449)_(22266070_?)del
NC_000023.10:g.(28450110_28771544)_(31838019_32614088)del
NC_000023.10:g.(29155333_29973170)_(30327505_30577779)del
NC_000023.10:g.(29976475_30082636)_(31196736_31462831)del
NC_000023.10:g.(?_22051124)_(22051242_22056586)del
NC_000023.10:g.22256748_22370988del114241
NC_000023.11:g.(?_30304579)_(30309363_?)del
NC_000023.11:g.22130083_22232038dup
NM_000016.6(ACADM):c.472T>C (p.Tyr158His) rs1570876467
NM_000018.4(ACADVL):c.515T>C (p.Leu172Pro) rs1597524963
NM_000018.4(ACADVL):c.830AGA[1] (p.Lys278del) rs769280599
NM_000021.4(PSEN1):c.356C>T (p.Thr119Ile) rs1566630791
NM_000021.4(PSEN1):c.415A>G (p.Met139Val) rs63751037
NM_000021.4(PSEN1):c.551A>G (p.Glu184Gly) rs1566641934
NM_000021.4(PSEN1):c.617G>A (p.Gly206Asp) rs63750082
NM_000021.4(PSEN1):c.697A>G (p.Met233Val) rs63751287
NM_000026.4(ADSL):c.268G>A (p.Ala90Thr) rs1601552154
NM_000033.4(ABCD1):c.1574C>T (p.Pro525Leu)
NM_000038.6(APC):c.311C>G (p.Ser104Ter) rs74953290
NM_000043.6(FAS):c.651+2T>C rs267607122
NM_000047.3(ARSL):c.349G>A (p.Gly117Arg) rs122460152
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
NM_000051.4(ATM):c.2838+6T>C rs781730571
NM_000051.4(ATM):c.5177+5G>A rs759373136
NM_000051.4(ATM):c.5573G>A (p.Trp1858Ter) rs879254076
NM_000051.4(ATM):c.6205C>T (p.Gln2069Ter) rs1555114563
NM_000051.4(ATM):c.6898T>G (p.Trp2300Gly) rs1565520641
NM_000051.4(ATM):c.743G>T (p.Arg248Leu) rs769166447
NM_000051.4(ATM):c.7469dup (p.Trp2491fs) rs1591161290
NM_000052.7(ATP7A):c.1946+1G>T rs797045340
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly) rs137853284
NM_000059.4(BRCA2):c.9027del (p.His3010fs) rs80359742
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000074.3(CD40LG):c.761C>T (p.Thr254Met) rs193922136
NM_000080.4(CHRNE):c.1181_1187dup (p.Glu396delinsAspValTer) rs1423995073
NM_000080.4(CHRNE):c.1326+1G>A rs1430654625
NM_000080.4(CHRNE):c.1327del rs763258280
NM_000082.4(ERCC8):c.481+1G>C rs1580007152
NM_000082.4(ERCC8):c.551-1G>A rs1554073316
NM_000083.3(CLCN1):c.697G>A (p.Gly233Ser) rs139039122
NM_000088.4(COL1A1):c.386del (p.Pro129fs) rs72667014
NM_000089.4(COL1A2):c.3088G>A (p.Gly1030Ser) rs1584330396
NM_000090.4(COL3A1):c.1241G>A (p.Gly414Asp) rs794728044
NM_000091.5(COL4A3):c.1183G>A (p.Gly395Arg) rs1574727988
NM_000091.5(COL4A3):c.1288G>A (p.Gly430Arg) rs1574728278
NM_000091.5(COL4A3):c.1814G>T (p.Gly605Val)
NM_000091.5(COL4A3):c.1831G>A (p.Gly611Arg) rs1574753929
NM_000091.5(COL4A3):c.2021G>A (p.Gly674Asp) rs1574767962
NM_000091.5(COL4A3):c.2126-1G>C rs2071831565
NM_000091.5(COL4A3):c.2417dup (p.Gly807fs) rs1440033157
NM_000091.5(COL4A3):c.2558G>C (p.Gly853Ala)
NM_000091.5(COL4A3):c.2711G>A (p.Gly904Glu)
NM_000091.5(COL4A3):c.2746+1G>T rs1574786225
NM_000091.5(COL4A3):c.2747-1G>T rs1196996393
NM_000091.5(COL4A3):c.2864G>T (p.Gly955Val)
NM_000091.5(COL4A3):c.3044G>A (p.Gly1015Glu) rs121912826
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1]) rs756539994
NM_000091.5(COL4A3):c.3454G>C (p.Gly1152Arg) rs749383170
NM_000091.5(COL4A3):c.351C>A (p.Tyr117Ter) rs750308686
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup) rs1175052474
NM_000091.5(COL4A3):c.370G>C (p.Gly124Arg)
NM_000091.5(COL4A3):c.816dup (p.Pro273fs) rs1574701767
NM_000092.4(COL4A4):c.1321_1369+3del rs1553676221
NM_000092.5(COL4A4):c.10_11del (p.Leu4fs)
NM_000092.5(COL4A4):c.1846G>C (p.Gly616Arg)
NM_000092.5(COL4A4):c.193-2A>C rs2125038490
NM_000092.5(COL4A4):c.2383+1G>A
NM_000092.5(COL4A4):c.2734G>C (p.Gly912Arg) rs1553640846
NM_000092.5(COL4A4):c.3699_3706+1del
NM_000092.5(COL4A4):c.4809+1G>C
NM_000092.5(COL4A4):c.594+1G>A rs1553690565
NM_000092.5(COL4A4):c.71+1del rs2125387640
NM_000092.5(COL4A4):c.755G>A (p.Gly252Asp) rs760795817
NM_000095.3(COMP):c.1153G>T (p.Asp385Tyr) rs1601054715
NM_000095.3(COMP):c.1368GGA[1] (p.Glu457del) rs1601053887
NM_000111.3(SLC26A3):c.386C>T (p.Pro129Leu) rs386833480
NM_000111.3(SLC26A3):c.559G>T (p.Gly187Ter) rs121913032
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del) rs80358233
NM_000116.5(TAFAZZIN):c.238G>C (p.Gly80Arg) rs1557191170
NM_000116.5(TAFAZZIN):c.542-3C>G rs781795144
NM_000135.4(FANCA):c.427A>T (p.Lys143Ter) rs539460201
NM_000138.5(FBN1):c.1558C>T (p.Gln520Ter) rs1597579923
NM_000138.5(FBN1):c.1794C>G (p.Cys598Trp) rs1555399954
NM_000138.5(FBN1):c.2374T>C (p.Cys792Arg) rs2141305039
NM_000138.5(FBN1):c.2438C>G (p.Ser813Ter) rs1597569265
NM_000138.5(FBN1):c.3096C>A (p.Cys1032Ter) rs1597564359
NM_000138.5(FBN1):c.5099A>G (p.Tyr1700Cys) rs387906626
NM_000138.5(FBN1):c.5925T>A (p.Asn1975Lys)
NM_000138.5(FBN1):c.6446A>G (p.Tyr2149Cys) rs113080385
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter) rs113001196
NM_000138.5(FBN1):c.671G>A (p.Cys224Tyr) rs1566922396
NM_000141.5(FGFR2):c.799T>C (p.Ser267Pro) rs121918505
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000143.4(FH):c.698G>T (p.Arg233Leu) rs121913123
NM_000146.4(FTL):c.485_489dup (p.Glu164fs) rs2122436225
NM_000147.5(FUCA1):c.422G>T (p.Gly141Val) rs753232669
NM_000147.5(FUCA1):c.564G>A (p.Trp188Ter) rs189315801
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000161.3(GCH1):c.281C>T (p.Thr94Met) rs1566687244
NM_000161.3(GCH1):c.287G>A (p.Trp96Ter)
NM_000161.3(GCH1):c.631_632del (p.Met211fs) rs886039379
NM_000161.3(GCH1):c.745A>G (p.Arg249Gly) rs2039600745
NM_000162.5(GCK):c.911T>C (p.Leu304Pro) rs1554334894
NM_000163.5(GHR):c.344A>C (p.Asn115Thr) rs1579626395
NM_000165.5(GJA1):c.131C>T (p.Ala44Val) rs794729675
NM_000166.6(GJB1):c.-103C>T rs863224971
NM_000166.6(GJB1):c.287C>G (p.Ala96Gly) rs11551260
NM_000166.6(GJB1):c.783_784del (p.Ile262fs) rs1602349955
NM_000170.3(GLDC):c.1405G>C (p.Gly469Arg) rs1587950355
NM_000170.3(GLDC):c.1654A>G (p.Met552Val) rs386833529
NM_000171.4(GLRA1):c.206G>A (p.Cys69Tyr) rs1581645142
NM_000171.4(GLRA1):c.559+1G>A rs1581620729
NM_000171.4(GLRA1):c.920A>G (p.Tyr307Cys) rs121918410
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000188.3(HK1):c.1370C>T (p.Thr457Met) rs1057517928
NM_000190.4(HMBS):c.104C>T (p.Thr35Met) rs974712040
NM_000193.4(SHH):c.1172del (p.Ala391fs) rs1803239521
NM_000196.4(HSD11B2):c.266G>A (p.Gly89Asp) rs1555518481
NM_000203.5(IDUA):c.606C>A (p.Tyr202Ter) rs1033313360
NM_000214.3(JAG1):c.2122_2125del (p.Gln708fs) rs727504412
NM_000228.3(LAMB3):c.1628dup (p.Cys546fs)
NM_000238.4(KCNH2):c.1685A>G (p.His562Arg) rs199472922
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000252.3(MTM1):c.1261-10A>G rs397518445
NM_000252.3(MTM1):c.721C>T (p.Arg241Cys) rs132630305
NM_000255.4(MMUT):c.1040T>G (p.Leu347Arg) rs1026703654
NM_000255.4(MMUT):c.1126_1127del (p.Ala376fs) rs1554159950
NM_000255.4(MMUT):c.1142G>T (p.Gly381Val) rs1554159942
NM_000255.4(MMUT):c.1162A>C (p.Asn388His)
NM_000256.3(MYBPC3):c.2678del (p.Pro893fs)
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del) rs730880674
NM_000256.3(MYBPC3):c.431_432del (p.Gly144fs) rs397516047
NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys) rs606231324
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878
NM_000257.4(MYH7):c.2642T>G (p.Leu881Arg) rs1566531303
NM_000257.4(MYH7):c.4844AGA[2] (p.Lys1617del) rs121913648
NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys) rs397516248
NM_000257.4(MYH7):c.602T>C (p.Ile201Thr) rs397516258
NM_000264.5(PTCH1):c.290del (p.Asn97fs) rs1554708751
NM_000264.5(PTCH1):c.808A>T (p.Lys270Ter) rs1588610324
NM_000268.4(NF2):c.784C>T (p.Arg262Ter) rs74315496
NM_000271.5(NPC1):c.3027del (p.Lys1010fs) rs1598942578
NM_000274.4(OAT):c.772-1G>A rs770390524
NM_000278.5(PAX2):c.43+5G>A rs878853000
NM_000278.5(PAX2):c.76del (p.Val26fs) rs75462234
NM_000278.5(PAX2):c.76dup (p.Val26fs) rs75462234
NM_000284.4(PDHA1):c.455C>T (p.Ser152Leu) rs1555933954
NM_000284.4(PDHA1):c.465G>T (p.Met155Ile)
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser) rs1555933963
NM_000284.4(PDHA1):c.536T>G (p.Leu179Arg) rs1555934165
NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu) rs137853254
NM_000284.4(PDHA1):c.640T>G (p.Trp214Gly)
NM_000284.4(PDHA1):c.642G>T (p.Trp214Cys) rs1569191659
NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg) rs1272572107
NM_000284.4(PDHA1):c.738C>T (p.Gly246=) rs1555934379
NM_000284.4(PDHA1):c.787C>G (p.Arg263Gly) rs137853259
NM_000284.4(PDHA1):c.930AAG[1] (p.Arg311del) rs1555935223
NM_000284.4(PDHA1):c.936_939del (p.Ser312fs) rs863224153
NM_000285.4(PEPD):c.540del (p.Ile180fs) rs1600147235
NM_000285.4(PEPD):c.549-1G>A rs1204749077
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs) rs267608216
NM_000287.4(PEX6):c.1947del (p.Ile650fs) rs267608227
NM_000287.4(PEX6):c.2665A>G (p.Lys889Glu)
NM_000292.3(PHKA2):c.128G>C (p.Trp43Ser) rs1556016365
NM_000292.3(PHKA2):c.235C>T (p.Gln79Ter) rs1601780766
NM_000314.8(PTEN):c.103A>C (p.Met35Leu) rs876659443
NM_000314.8(PTEN):c.370T>A (p.Cys124Ser) rs121909223
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000314.8(PTEN):c.959T>G (p.Leu320Ter) rs1114167667
NM_000334.4(SCN4A):c.3404G>A (p.Arg1135His) rs527236150
NM_000334.4(SCN4A):c.3625T>C (p.Cys1209Arg) rs1598406692
NM_000345.4(SNCA):c.174G>C (p.Lys58Asn)
NM_000346.4(SOX9):c.1372C>T (p.Gln458Ter) rs1555629443
NM_000346.4(SOX9):c.515A>G (p.Tyr172Cys) rs1555629158
NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer) rs61751389
NM_000352.6(ABCC8):c.4438A>G (p.Asn1480Asp) rs1591705863
NM_000358.3(TGFBI):c.371G>T (p.Arg124Leu) rs121909211
NM_000360.4(TH):c.407T>A (p.Val136Glu) rs1590169802
NM_000363.5(TNNI3):c.470C>T (p.Ala157Val) rs397516353
NM_000363.5(TNNI3):c.508C>T (p.Arg170Trp) rs727503504
NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys) rs397516355
NM_000368.5(TSC1):c.2524C>T (p.Gln842Ter) rs1447417010
NM_000371.4(TTR):c.112G>T (p.Asp38Tyr)
NM_000380.4(XPA):c.772_785del (p.Arg258fs) rs778543124
NM_000384.3(APOB):c.3562A>T (p.Lys1188Ter) rs773255823
NM_000391.4(TPP1):c.1333_1344dup (p.Ser445_Ala448dup) rs1554901580
NM_000394.4(CRYAA):c.61C>T (p.Arg21Trp) rs397515625
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp) rs104894161
NM_000405.5(GM2A):c.364G>A (p.Gly122Arg)
NM_000426.4(LAMA2):c.4342T>C (p.Cys1448Arg)
NM_000426.4(LAMA2):c.4533del (p.Gly1512fs) rs1776950897
NM_000431.4(MVK):c.768+4A>G rs1295630463
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000439.5(PCSK1):c.1346T>C (p.Leu449Pro) rs1580746829
NM_000439.5(PCSK1):c.1688C>G (p.Pro563Arg) rs1580744791
NM_000444.6(PHEX):c.1022T>A (p.Val341Asp) rs1556026027
NM_000444.6(PHEX):c.1044del (p.Asp349fs) rs1556026042
NM_000444.6(PHEX):c.1079+5G>A rs1556026071
NM_000444.6(PHEX):c.1103G>A (p.Trp368Ter) rs1556029499
NM_000444.6(PHEX):c.1134del (p.Ser379fs) rs1556029516
NM_000444.6(PHEX):c.1137_1138delinsAT (p.Ser379_Arg380delinsArgTrp) rs1556029519
NM_000444.6(PHEX):c.118+1G>T rs1131691731
NM_000444.6(PHEX):c.119-3C>G rs1556012055
NM_000444.6(PHEX):c.1216T>C (p.Cys406Arg) rs1556030465
NM_000444.6(PHEX):c.1269del (p.Asp424fs) rs1556030487
NM_000444.6(PHEX):c.1297G>T (p.Glu433Ter) rs1556030502
NM_000444.6(PHEX):c.1303-1G>C rs1556036014
NM_000444.6(PHEX):c.1303-2A>G
NM_000444.6(PHEX):c.1366T>C (p.Trp456Arg) rs1085308012
NM_000444.6(PHEX):c.1367G>A (p.Trp456Ter) rs886041359
NM_000444.6(PHEX):c.1404G>C (p.Lys468Asn) rs754449807
NM_000444.6(PHEX):c.1406C>A (p.Ala469Glu) rs375593493
NM_000444.6(PHEX):c.142C>T (p.Gln48Ter) rs202074612
NM_000444.6(PHEX):c.1482+5G>C rs1269067103
NM_000444.6(PHEX):c.1483-2A>G rs1556070724
NM_000444.6(PHEX):c.1523A>C (p.Gln508Pro) rs1556070890
NM_000444.6(PHEX):c.1543C>T (p.Gln515Ter) rs886041361
NM_000444.6(PHEX):c.1560del (p.Trp520fs) rs1556071086
NM_000444.6(PHEX):c.1568_1569insT (p.Lys523fs) rs1556071123
NM_000444.6(PHEX):c.1572dup (p.Val525fs) rs1556071138
NM_000444.6(PHEX):c.1586+1G>A rs1064796928
NM_000444.6(PHEX):c.1586+3_1586+6del rs886042234
NM_000444.6(PHEX):c.1587-2145_1645+3342del
NM_000444.6(PHEX):c.1590G>C (p.Trp530Cys) rs1556091855
NM_000444.6(PHEX):c.1601C>T (p.Pro534Leu) rs886041363
NM_000444.6(PHEX):c.1645+1G>A rs886041225
NM_000444.6(PHEX):c.1649_1650del (p.Phe550fs) rs1556128043
NM_000444.6(PHEX):c.1699C>T (p.Arg567Ter) rs137853271
NM_000444.6(PHEX):c.1700+2T>C rs1556128253
NM_000444.6(PHEX):c.1706T>C (p.Leu569Pro) rs1556135242
NM_000444.6(PHEX):c.1718C>A (p.Ala573Asp) rs1556135308
NM_000444.6(PHEX):c.1735G>A (p.Gly579Arg) rs875989883
NM_000444.6(PHEX):c.1735G>C (p.Gly579Arg) rs875989883
NM_000444.6(PHEX):c.1753G>A (p.Gly585Arg) rs1556135467
NM_000444.6(PHEX):c.1754G>A (p.Gly585Glu) rs1556135477
NM_000444.6(PHEX):c.1763A>G (p.Asn588Ser) rs772130004
NM_000444.6(PHEX):c.1768+1G>A rs886041296
NM_000444.6(PHEX):c.1775_1778dup (p.Tyr593Ter) rs1556138407
NM_000444.6(PHEX):c.1779_1782dup (p.Lys595Ter) rs886041364
NM_000444.6(PHEX):c.181G>T (p.Glu61Ter) rs770630990
NM_000444.6(PHEX):c.1832_1833del (p.Lys610_Phe611insTer) rs1556138590
NM_000444.6(PHEX):c.187+1G>T rs1556012100
NM_000444.6(PHEX):c.187+1del rs1556012094
NM_000444.6(PHEX):c.1885_1888dup (p.Ala630fs) rs1556138742
NM_000444.6(PHEX):c.1899+2113_1957del
NM_000444.6(PHEX):c.1910dup (p.Arg638fs) rs1556148392
NM_000444.6(PHEX):c.1936G>C (p.Asp646His) rs1556148532
NM_000444.6(PHEX):c.1952G>C (p.Arg651Pro) rs748792378
NM_000444.6(PHEX):c.1965+1G>A rs1240767654
NM_000444.6(PHEX):c.1966-9_1966-7del rs1556151004
NM_000444.6(PHEX):c.1971C>G (p.Tyr657Ter) rs1556151071
NM_000444.6(PHEX):c.1979G>A (p.Trp660Ter) rs886041369
NM_000444.6(PHEX):c.1986_1989dup (p.Arg664Ter) rs1556151137
NM_000444.6(PHEX):c.2044C>T (p.Gln682Ter) rs1556151545
NM_000444.6(PHEX):c.2071-1G>A rs886041374
NM_000444.6(PHEX):c.2078G>A (p.Cys693Tyr) rs1556200989
NM_000444.6(PHEX):c.2093del (p.Pro698fs) rs1556201034
NM_000444.6(PHEX):c.2104C>T (p.Arg702Ter) rs886041226
NM_000444.6(PHEX):c.2147+3A>T rs1556201217
NM_000444.6(PHEX):c.2148-2A>G rs1556205815
NM_000444.6(PHEX):c.2193del (p.Phe731fs) rs886041631
NM_000444.6(PHEX):c.2198G>C (p.Cys733Ser) rs1057517981
NM_000444.6(PHEX):c.2199_2217dup (p.Asn740fs) rs1556206093
NM_000444.6(PHEX):c.2239C>T (p.Arg747Ter) rs886041227
NM_000444.6(PHEX):c.2239_*2del (p.Arg747fs) rs1556206335
NM_000444.6(PHEX):c.2245T>C (p.Trp749Arg) rs1556206403
NM_000444.6(PHEX):c.230G>T (p.Cys77Phe) rs1556014263
NM_000444.6(PHEX):c.253T>C (p.Cys85Arg) rs1556014287
NM_000444.6(PHEX):c.415T>A (p.Tyr139Asn) rs1556020460
NM_000444.6(PHEX):c.424del (p.Cys142fs) rs1556020474
NM_000444.6(PHEX):c.436+6T>C rs1556020485
NM_000444.6(PHEX):c.467T>C (p.Leu156Pro) rs1556020752
NM_000444.6(PHEX):c.546_549del (p.Arg183fs) rs1556020798
NM_000444.6(PHEX):c.58C>T (p.Arg20Ter) rs770573978
NM_000444.6(PHEX):c.591A>G (p.Gln197=) rs1556020818
NM_000444.6(PHEX):c.621T>G (p.Tyr207Ter) rs771208171
NM_000444.6(PHEX):c.679C>A (p.Leu227Ile) rs1556023495
NM_000444.6(PHEX):c.682_683del (p.Ser228fs) rs1064793956
NM_000444.6(PHEX):c.704del (p.Tyr235fs) rs1556023503
NM_000444.6(PHEX):c.707T>C (p.Leu236Pro) rs1556023505
NM_000444.6(PHEX):c.732+5G>A rs1556023528
NM_000444.6(PHEX):c.732+5G>C rs1556023528
NM_000444.6(PHEX):c.78dup (p.Val27fs) rs1556010757
NM_000444.6(PHEX):c.832G>T (p.Glu278Ter) rs1556024541
NM_000444.6(PHEX):c.871C>T (p.Arg291Ter) rs866429868
NM_000444.6(PHEX):c.933+1G>T rs1556025314
NM_000444.6(PHEX):c.934-3_934-1delinsTCA rs1556025936
NM_000444.6(PHEX):c.955AAG[1] (p.Lys320del) rs1556025968
NM_000454.5(SOD1):c.146A>G (p.His49Arg) rs1568809172
NM_000458.4(HNF1B):c.443C>A (p.Ser148Ter)
NM_000466.3(PEX1):c.1743_1796del (p.Gln582_Gly599del) rs1554372756
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000466.3(PEX1):c.3579del (p.Asp1194fs) rs1554366802
NM_000475.5(NR0B1):c.0_1168+260del
NM_000475.5(NR0B1):c.1141C>T (p.Leu381Phe) rs386134263
NM_000475.5(NR0B1):c.1169-112_*17delinsTG rs1555972632
NM_000475.5(NR0B1):c.1169-1G>A rs1555972666
NM_000475.5(NR0B1):c.1234_1235del (p.Leu411_Ser412insTer) rs1555972655
NM_000475.5(NR0B1):c.315G>A (p.Trp105Ter) rs132630327
NM_000475.5(NR0B1):c.327C>A (p.Cys109Ter) rs1555973172
NM_000475.5(NR0B1):c.515G>A (p.Trp172Ter) rs1555973132
NM_000475.5(NR0B1):c.543del (p.Gly183fs) rs1555973120
NM_000475.5(NR0B1):c.545_546insCCCA (p.Gly183fs) rs1555973119
NM_000475.5(NR0B1):c.548dup (p.Gly183_Lys184insTer) rs1555973117
NM_000475.5(NR0B1):c.551_552del (p.Lys184fs) rs1555973115
NM_000475.5(NR0B1):c.638_654delinsCATC (p.Leu213fs) rs1555973091
NM_000475.5(NR0B1):c.652dup (p.Thr218fs) rs1555973092
NM_000475.5(NR0B1):c.765C>A (p.Cys255Ter) rs1311271225
NM_000475.5(NR0B1):c.773C>A (p.Ala258Asp) rs1555973058
NM_000475.5(NR0B1):c.800G>C (p.Arg267Pro) rs104894888
NM_000475.5(NR0B1):c.822C>A (p.Cys274Ter) rs753734546
NM_000475.5(NR0B1):c.844C>T (p.Gln282Ter) rs1555973031
NM_000475.5(NR0B1):c.871T>C (p.Trp291Arg) rs1555973021
NM_000475.5(NR0B1):c.872G>C (p.Trp291Ser) rs1489209061
NM_000484.4(APP):c.2149G>T (p.Val717Phe) rs63750264
NM_000487.6(ARSA):c.677C>A (p.Ala226Asp) rs74315468
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg) rs74315471
NM_000487.6(ARSA):c.917C>T (p.Thr306Met) rs199476359
NM_000487.6(ARSA):c.929G>T (p.Gly310Val) rs199476356
NM_000487.6(ARSA):c.937C>G (p.Arg313Gly) rs551472773
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000503.6(EYA1):c.1361-1G>A rs397517917
NM_000503.6(EYA1):c.678C>A (p.Tyr226Ter) rs529483320
NM_000503.6(EYA1):c.880C>T (p.Arg294Ter) rs1816578250
NM_000507.4(FBP1):c.881G>A (p.Gly294Glu)
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
NM_000527.5(LDLR):c.1721G>A (p.Arg574His)
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
NM_000529.2(MC2R):c.424G>T (p.Val142Leu) rs199950178
NM_000529.2(MC2R):c.459dup (p.Ile154fs) rs1555619430
NM_000529.2(MC2R):c.674T>G (p.Leu225Arg) rs1555619377
NM_000529.2(MC2R):c.702del (p.Phe235fs) rs1555619372
NM_000530.8(MPZ):c.558del (p.Arg186fs) rs1553259568
NM_000533.5(PLP1):c.817C>T (p.Arg273Ter) rs1556273167
NM_000540.3(RYR1):c.10347+1G>A rs111436401
NM_000540.3(RYR1):c.1202G>T (p.Arg401Leu) rs193922766
NM_000540.3(RYR1):c.2427_2446dup (p.Pro816fs) rs1460246826
NM_000540.3(RYR1):c.6502G>A (p.Val2168Met) rs118192176
NM_000540.3(RYR1):c.685T>C (p.Cys229Arg) rs1600649879
NM_000540.3(RYR1):c.7358T>C (p.Ile2453Thr) rs118192123
NM_000540.3(RYR1):c.742G>A (p.Gly248Arg) rs1801086
NM_000540.3(RYR1):c.8159C>A (p.Ser2720Ter) rs1568510406
NM_000540.3(RYR1):c.9910T>C (p.Cys3304Arg)
NM_000545.8(HNF1A):c.863_864insC (p.Pro289fs) rs766191969
NM_000548.5(TSC2):c.1322G>A (p.Trp441Ter) rs45515894
NM_000548.5(TSC2):c.4129C>T (p.Gln1377Ter) rs45517329
NM_000552.5(VWF):c.3692A>G (p.Asn1231Ser) rs61749368
NM_000642.3(AGL):c.24_25del (p.Ile9fs) rs1648909681
NM_000701.8(ATP1A1):c.299_313del (p.Phe100_Leu104del) rs724160008
NM_000701.8(ATP1A1):c.311T>G (p.Leu104Arg) rs11540945
NM_000701.8(ATP1A1):c.995T>G (p.Val332Gly) rs724160010
NM_000702.4(ATP1A2):c.2501G>A (p.Arg834Gln) rs2101995864
NM_000782.5(CYP24A1):c.425AAG[1] (p.Glu143del) rs777676129
NM_000807.4(GABRA2):c.875C>T (p.Thr292Ile) rs1577800481
NM_000814.6(GABRB3):c.358G>A (p.Asp120Asn) rs886037938
NM_000817.3(GAD1):c.1370G>A (p.Arg457His)
NM_000834.5(GRIN2B):c.2087G>A (p.Arg696His) rs1555103971
NM_000834.5(GRIN2B):c.4256C>T (p.Pro1419Leu)
NM_000884.3(IMPDH2):c.338G>A (p.Gly113Glu)
NM_000899.5(KITLG):c.106A>C (p.Asn36His)
NM_000899.5(KITLG):c.16-2A>G
NM_000965.5(RARB):c.1210C>T (p.Gln404Ter) rs1575553547
NM_000996.4(RPL35A):c.258del (p.Lys87fs) rs1581106084
NM_001001344.3(ATP2B3):c.1272_1277del (p.Leu425_Val426del) rs724160009
NM_001001344.3(ATP2B3):c.1273_1278del (p.Leu425_Val426del) rs724160011
NM_001001344.3(ATP2B3):c.1277_1282del (p.Val426_Val427del) rs724160012
NM_001003800.2(BICD2):c.1673G>C (p.Arg558Pro) rs1263279945
NM_001005242.3(PKP2):c.1482G>A (p.Trp494Ter) rs397517001
NM_001005273.3(CHD3):c.1652_1653del (p.Phe551fs)
NM_001005273.3(CHD3):c.3359A>T (p.Asp1120Val) rs1970460175
NM_001005273.3(CHD3):c.3515G>A (p.Arg1172Gln) rs1567861501
NM_001005273.3(CHD3):c.3560G>C (p.Arg1187Pro) rs1567861571
NM_001005273.3(CHD3):c.4025G>A (p.Arg1342Gln) rs1567863732
NM_001005273.3(CHD3):c.5092C>T (p.Arg1698Ter)
NM_001005361.3(DNM2):c.1102G>A (p.Glu368Lys) rs121909092
NM_001007553.3(CSDE1):c.2134C>T (p.Gln712Ter) rs1659401492
NM_001008212.2(OPTN):c.1078_1079del (p.Lys360fs) rs1833438306
NM_001008537.3(NEXMIF):c.2683del (p.Ser895fs) rs2080105696
NM_001012339.3(DNAJC21):c.647_666del (p.Arg216fs) rs1580526958
NM_001013663.2(PTRHD1):c.155G>A (p.Cys52Tyr) rs781442277
NM_001015877.2(PHF6):c.29_30dup (p.Pro11fs) rs1556013203
NM_001029896.2(WDR45):c.371_372del (p.Tyr124fs) rs2065038463
NM_001029896.2(WDR45):c.516+1_516+3del rs1557084113
NM_001029896.2(WDR45):c.827+1G>A rs1557083958
NM_001029896.2(WDR45):c.950_951dup (p.Lys318fs) rs1557083878
NM_001031689.3(PLAA):c.240_241insTAG (p.Pro81Ter) rs1587185107
NM_001031726.4(C19orf12):c.164_166delGGG rs398122409
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His) rs886041246
NM_001032221.6(STXBP1):c.1261G>T (p.Glu421Ter) rs1588341629
NM_001032221.6(STXBP1):c.1661A>C (p.Tyr554Ser)
NM_001032221.6(STXBP1):c.308A>C (p.His103Pro) rs1588306948
NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu) rs1841141204
NM_001032382.2(PQBP1):c.599_600del (p.Glu200fs) rs1602332039
NM_001037333.3(CYFIP2):c.1363G>C (p.Ala455Pro) rs1760440801
NM_001037333.3(CYFIP2):c.1404G>C (p.Glu468Asp) rs971284726
NM_001037333.3(CYFIP2):c.2095G>C (p.Asp699His) rs1581069143
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys) rs1131692231
NM_001039591.3(USP9X):c.4756del (p.Ala1587fs) rs1555930128
NM_001039591.3(USP9X):c.5198G>A (p.Cys1733Tyr)
NM_001040142.2(SCN2A):c.1384-2A>G rs1574571769
NM_001040142.2(SCN2A):c.2635G>A (p.Gly879Arg) rs796053115
NM_001040142.2(SCN2A):c.2687C>T (p.Ala896Val) rs1057519526
NM_001040142.2(SCN2A):c.304C>T (p.Arg102Ter) rs387906683
NM_001040142.2(SCN2A):c.3703C>T (p.Arg1235Ter) rs1085307500
NM_001040142.2(SCN2A):c.4439A>G (p.Lys1480Arg) rs1574731380
NM_001040142.2(SCN2A):c.4877G>A (p.Arg1626Gln) rs796053155
NM_001040716.2(PC):c.449_451dup (p.Gly150dup) rs1946724126
NM_001041.4(SI):c.2737-1G>C rs1294620045
NM_001042424.3(NSD2):c.3295G>A (p.Glu1099Lys) rs772470710
NM_001042492.3(NF1):c.226G>T (p.Glu76Ter)
NM_001042492.3(NF1):c.3721C>T (p.Arg1241Ter) rs137854562
NM_001042492.3(NF1):c.3831C>T (p.Gly1277=) rs1597722611
NM_001042492.3(NF1):c.4818_4822del (p.Phe1606fs) rs1555619413
NM_001042492.3(NF1):c.7189G>A (p.Gly2397Arg) rs1135402900
NM_001042750.2(STAG2):c.2860C>T (p.Arg954Cys) rs1603150613
NM_001042750.2(STAG2):c.3097C>T (p.Arg1033Ter) rs1569520709
NM_001042750.2(STAG2):c.352dup (p.Ile118fs) rs1602977573
NM_001044.5(SLC6A3):c.178C>T (p.Arg60Trp) rs1579729357
NM_001069.3(TUBB2A):c.292G>A (p.Gly98Arg) rs1064795334
NM_001077350.3(NPRL3):c.898C>T (p.Gln300Ter) rs746975723
NM_001077365.2(POMT1):c.1921C>T (p.Leu641Phe) rs777437871
NM_001079668.3(NKX2-1):c.250C>T (p.Gln84Ter)
NM_001079668.3(NKX2-1):c.303_319del (p.Ala103fs) rs1594407006
NM_001079668.3(NKX2-1):c.646del (p.Leu216fs) rs1555349214
NM_001079872.2(CUL4B):c.2264_2265dup (p.Glu756Ter)
NM_001080449.3(DNA2):c.1919C>T (p.Ser640Leu) rs1590054876
NM_001080517.3(SETD5):c.1566del (p.Phe522fs) rs1575466399
NM_001080517.3(SETD5):c.2154del (p.Val719fs) rs1575475764
NM_001080517.3(SETD5):c.2302C>T (p.Arg768Ter) rs864321657
NM_001081550.2(THOC2):c.149A>C (p.Tyr50Ser) rs1603326578
NM_001083619.3(GRIA2):c.1589_1619dup (p.Asp540delinsGluValGlnThrArgSerValPheLeuSerTer)
NM_001083619.3(GRIA2):c.2188A>T (p.Asn730Tyr)
NM_001083619.3(GRIA2):c.2251A>G (p.Lys751Glu) rs1736569883
NM_001083962.2(TCF4):c.1739G>A (p.Arg580Gln) rs121909121
NM_001083962.2(TCF4):c.514_517del (p.Lys172fs) rs398123561
NM_001083962.2(TCF4):c.795T>A (p.Tyr265Ter) rs1600865932
NM_001085487.3(MYSM1):c.869C>G (p.Ser290Ter) rs1569770360
NM_001098511.3(KIF2A):c.959C>T (p.Thr320Ile) rs1554042050
NM_001100.4(ACTA1):c.442G>A (p.Gly148Ser) rs398123563
NM_001100.4(ACTA1):c.682G>T (p.Glu228Ter) rs1558081664
NM_001100.4(ACTA1):c.738C>A (p.Asp246Glu) rs748592740
NM_001101.5(ACTB):c.269_271del (p.Phe90del) rs1554329546
NM_001101.5(ACTB):c.4G>T (p.Asp2Tyr) rs1784841309
NM_001101.5(ACTB):c.547C>T (p.Arg183Trp) rs104894003
NM_001101.5(ACTB):c.625G>A (p.Val209Met) rs587779777
NM_001101.5(ACTB):c.628C>T (p.Arg210Cys) rs1584261979
NM_001110556.2(FLNA):c.5363_5369del (p.Leu1788fs)
NM_001110556.2(FLNA):c.620C>T (p.Pro207Leu) rs28935469
NM_001110556.2(FLNA):c.7021C>T (p.Gln2341Ter) rs1603358919
NM_001110792.2(MECP2):c.1198_1205del (p.Pro400fs)
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001110792.2(MECP2):c.1A>G (p.Met1Val) rs587783132
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.842del (p.Gly281fs) rs61750241
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001111.5(ADAR):c.3215G>T (p.Ser1072Ile) rs1553207540
NM_001111067.4(ACVR1):c.617G>A (p.Arg206His) rs121912678
NM_001112741.2(KCNC1):c.1262C>T (p.Ala421Val) rs1554991378
NM_001113482.2(MANEAL):c.446dup (p.Asp150fs) rs1414490641
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu) rs606231451
NM_001114753.3(ENG):c.659T>C (p.Ile220Thr) rs1588582695
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser) rs1060501410
NM_001123385.2(BCOR):c.2983C>T (p.Gln995Ter)
NM_001123385.2(BCOR):c.4981C>T (p.Arg1661Ter) rs755680047
NM_001126108.2(SLC12A3):c.1335+1_1335+6del rs759801838
NM_001126121.2(SLC25A19):c.240A>C (p.Lys80Asn) rs1175745274
NM_001127178.3(PIGG):c.1030A>C (p.Met344Leu) rs757141700
NM_001127222.2(CACNA1A):c.1486G>A (p.Val496Ile)
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) rs121908212
NM_001127222.2(CACNA1A):c.2144A>C (p.Asn715Thr) rs1555757432
NM_001127222.2(CACNA1A):c.4064C>A (p.Thr1355Asn) rs2056767062
NM_001127222.2(CACNA1A):c.4591-2A>G rs1600180659
NM_001127222.2(CACNA1A):c.4987C>T (p.Arg1663Ter) rs1555738369
NM_001127644.2(GABRA1):c.440G>A (p.Arg147Gln) rs1376907797
NM_001127644.2(GABRA1):c.647A>T (p.Asn216Ile)
NM_001127671.2(LIFR):c.756dup (p.Lys253Ter) rs1745753552
NM_001127898.4(CLCN5):c.292C>T (p.Arg98Ter) rs1049618423
NM_001127898.4(CLCN5):c.575G>A (p.Trp192Ter) rs1557192084
NM_001128.6(AP1G1):c.44G>A (p.Arg15Gln) rs2145525235
NM_001128126.3(AP4S1):c.138+3_138+6del rs876661295
NM_001130144.3(LTBP3):c.3912A>T (p.Ter1304Cys) rs1554971742
NM_001130823.3(DNMT1):c.1823T>G (p.Leu608Arg) rs2038416963
NM_001130823.3(DNMT1):c.4298T>C (p.Met1433Thr) rs1599341718
NM_001130987.2(DYSF):c.3298G>T (p.Glu1100Ter)
NM_001134407.3(GRIN2A):c.1678ATG[1] (p.Met561del) rs1057519248
NM_001134407.3(GRIN2A):c.1936A>G (p.Thr646Ala) rs1555492758
NM_001134407.3(GRIN2A):c.2450T>C (p.Met817Thr) rs1064796608
NM_001134673.4(NFIA):c.28-2A>G rs1646253231
NM_001134673.4(NFIA):c.297dup (p.Pro100fs) rs1553149202
NM_001134831.2(AHI1):c.2266+1G>A
NM_001135254.2(PAX7):c.86-1G>A rs1570098248
NM_001135651.3(EIF2AK2):c.388G>A (p.Gly130Arg) rs2148705154
NM_001135998.3(NDUFB11):c.286T>C (p.Ser96Pro)
NM_001142864.4(PIEZO1):c.7477CTGGAG[3] (p.2493LE[3]) rs587776992
NM_001163435.3(TBCK):c.1878G>T (p.Trp626Cys) rs1579198447
NM_001163435.3(TBCK):c.1880T>G (p.Phe627Cys) rs1579198426
NM_001164508.2(NEB):c.19800C>G (p.Tyr6600Ter) rs552379239
NM_001164508.2(NEB):c.20808T>A (p.Tyr6936Ter) rs753417634
NM_001164508.2(NEB):c.24209_24212dup (p.Leu8071fs) rs781667543
NM_001165963.4(SCN1A):c.2758_2759del (p.Val920fs) rs1574182550
NM_001165963.4(SCN1A):c.4279C>T (p.Gln1427Ter)
NM_001165963.4(SCN1A):c.4476+5G>T rs1553522266
NM_001165963.4(SCN1A):c.4620_4627del (p.Arg1540fs)
NM_001165963.4(SCN1A):c.5347G>A (p.Ala1783Thr) rs121917980
NM_001165963.4(SCN1A):c.5674C>T (p.Arg1892Ter) rs794726739
NM_001165963.4(SCN1A):c.602+1G>A
NM_001165963.4(SCN1A):c.801del (p.Gln267fs)
NM_001165963.4(SCN1A):c.842C>G (p.Pro281Arg) rs796052964
NM_001166114.2(PNPLA6):c.2924G>A (p.Gly975Glu) rs1599305317
NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs) rs606231167
NM_001170629.2(CHD8):c.3524_3525insC (p.Leu1175fs)
NM_001170629.2(CHD8):c.3832dup (p.Asp1278fs)
NM_001170629.2(CHD8):c.6730C>T (p.Arg2244Ter) rs1555313027
NM_001172509.2(SATB2):c.1103_1106del (p.Val368fs) rs1574532220
NM_001172509.2(SATB2):c.1226A>G (p.Gln409Arg)
NM_001172509.2(SATB2):c.225T>A (p.Tyr75Ter) rs1357010510
NM_001172509.2(SATB2):c.553_554insT (p.Glu185fs) rs1574566833
NM_001174147.2(LMX1B):c.706G>C (p.Ala236Pro) rs1588307140
NM_001174147.2(LMX1B):c.796T>C (p.Trp266Arg) rs1588307482
NM_001174147.2(LMX1B):c.917_926del (p.Met306fs) rs1588309269
NM_001174147.2(LMX1B):c.932del (p.Pro311fs) rs1588309293
NM_001177316.2(SLC34A3):c.1058G>T (p.Arg353Leu) rs121918234
NM_001177316.2(SLC34A3):c.1238C>A (p.Ala413Glu) rs121918235
NM_001177316.2(SLC34A3):c.1402C>T (p.Arg468Trp) rs121918238
NM_001177316.2(SLC34A3):c.1561dup (p.Leu521fs) rs765816079
NM_001177316.2(SLC34A3):c.1639_1652del (p.Arg547fs) rs1554785389
NM_001177316.2(SLC34A3):c.575C>G (p.Ser192Trp) rs199690076
NM_001177316.2(SLC34A3):c.908del (p.Pro303fs) rs794729658
NM_001177316.2(SLC34A3):c.925+20_926-48del rs1554784044
NM_001182.5(ALDH7A1):c.992C>A (p.Thr331Asn)
NM_001190274.2(FBXO11):c.2188G>A (p.Gly730Arg) rs1572764698
NM_001190274.2(FBXO11):c.2729A>G (p.Asp910Gly) rs1670355281
NM_001190274.2(FBXO11):c.802-1G>A rs1672424005
NM_001197104.2(KMT2A):c.1844del (p.Pro615fs) rs1591374984
NM_001197104.2(KMT2A):c.3157-7_3161del rs1591379711
NM_001197104.2(KMT2A):c.3301C>T (p.Arg1101Ter) rs886041856
NM_001197104.2(KMT2A):c.5168dup (p.Tyr1723Ter)
NM_001199107.2(TBC1D24):c.1079G>T (p.Arg360Leu) rs765965968
NM_001199107.2(TBC1D24):c.686T>C (p.Phe229Ser) rs397514713
NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg) rs886039323
NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu) rs1554389088
NM_001242896.3(DEPDC5):c.546G>A (p.Trp182Ter)
NM_001244008.2(KIF1A):c.1139G>C (p.Arg380Pro) rs759791775
NM_001244008.2(KIF1A):c.1214dup (p.Asn405fs) rs1575600733
NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp) rs879253888
NM_001244008.2(KIF1A):c.914C>T (p.Pro305Leu) rs1131690804
NM_001256071.3(RNF213):c.114C>G (p.Asn38Lys)
NM_001256447.2(BCAP31):c.365_366del (p.Leu122fs) rs1557047954
NM_001256545.2(MEGF10):c.2096G>C (p.Cys699Ser)
NM_001256864.2(DNAJC6):c.988C>T (p.Arg330Ter) rs1645867120
NM_001258392.3(CLPB):c.1588G>A (p.Gly530Arg) rs2135485868
NM_001260.3(CDK8):c.185C>T (p.Ser62Leu) rs1565977796
NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn) rs281864928
NM_001267550.2(TTN):c.50657_50660dup (p.Tyr16887Ter) rs2056330918
NM_001267550.2(TTN):c.66906_66907del (p.Asp22304fs)
NM_001267550.2(TTN):c.77013T>A (p.Tyr25671Ter)
NM_001271.4(CHD2):c.1396C>T (p.Arg466Ter) rs398123000
NM_001271.4(CHD2):c.3454C>G (p.Arg1152Gly) rs1596443241
NM_001273.5(CHD4):c.637A>G (p.Ser213Gly) rs1948590484
NM_001276345.2(TNNT2):c.644G>C (p.Arg215Pro) rs121964860
NM_001277062.2(MFF):c.375_376del (p.Glu127fs) rs879255690
NM_001278116.2(L1CAM):c.743C>A (p.Ser248Tyr) rs782163019
NM_001278716.2(FBXL4):c.1252G>C (p.Ala418Pro) rs542852839
NM_001278716.2(FBXL4):c.1540T>G (p.Trp514Gly) rs1411907961
NM_001278716.2(FBXL4):c.1648_1649del (p.Asp550fs) rs1554215986
NM_001278716.2(FBXL4):c.1703G>C (p.Gly568Ala) rs398123060
NM_001278716.2(FBXL4):c.1772A>C (p.Asp591Ala) rs747618415
NM_001278716.2(FBXL4):c.316C>T (p.Gln106Ter) rs1554222122
NM_001282225.2(ADA2):c.139G>T (p.Gly47Trp) rs202134424
NM_001282225.2(ADA2):c.140G>C (p.Gly47Ala) rs200930463
NM_001287.6(CLCN7):c.839G>A (p.Arg280His) rs1163577336
NM_001288705.3(CSF1R):c.1961C>A (p.Thr654Asn) rs1275309683
NM_001291415.2(KDM6A):c.140A>G (p.Glu47Gly) rs2031089646
NM_001291415.2(KDM6A):c.908C>A (p.Ala303Asp) rs2044199885
NM_001292034.3(TAB2):c.1321C>T (p.Arg441Ter) rs1554263321
NM_001292034.3(TAB2):c.622_626del (p.Pro208fs) rs1781486601
NM_001292034.3(TAB2):c.878del (p.Ser293fs) rs1554263268
NM_001303.4(COX10):c.661A>G (p.Thr221Ala) rs1597527946
NM_001303256.3(MORC2):c.1181A>G (p.Tyr394Cys) rs1555938796
NM_001303256.3(MORC2):c.328C>T (p.Arg110Cys) rs2040817364
NM_001305563.2(TXNL4A):c.[-60-10561del];[-60-10913_-60-10880del]
NM_001305563.2(TXNL4A):c.[-60-10655C>T];[-60-10913_-60-10880del]
NM_001305563.2(TXNL4A):c.[-60-10913_-60-10880del];[136G>T]
NM_001318852.2(MAPK8IP3):c.1735C>T (p.Arg579Cys) rs1567203083
NM_001318852.2(MAPK8IP3):c.3439C>T (p.Arg1147Cys) rs1567214097
NM_001320.7(CSNK2B):c.304C>T (p.Gln102Ter) rs1802001080
NM_001320.7(CSNK2B):c.592dup (p.Gln198fs)
NM_001321075.3(DLG4):c.530G>T (p.Gly177Val) rs2142884433
NM_001321075.3(DLG4):c.981_982dup (p.Val328fs)
NM_001321120.2(TBX4):c.281+1G>T rs1555881112
NM_001322934.2(NFKB2):c.2600C>T (p.Ala867Val) rs727502788
NM_001323289.2(CDKL5):c.453del (p.Cys152fs) rs1555949763
NM_001323289.2(CDKL5):c.554+1G>A rs1555950083
NM_001323289.2(CDKL5):c.630_631del (p.Leu210fs)
NM_001323289.2(CDKL5):c.968T>A (p.Leu323Ter)
NM_001326342.2(CELF2):c.1562dup (p.Tyr521Ter) rs2132786873
NM_001330260.2(SCN8A):c.2546T>A (p.Leu849His) rs1592149711
NM_001330260.2(SCN8A):c.2932A>G (p.Ser978Gly) rs1057519540
NM_001330260.2(SCN8A):c.4409A>C (p.Gln1470Pro) rs1555228771
NM_001330260.2(SCN8A):c.844_845del (p.Val282fs)
NM_001330288.2(SMARCC2):c.385A>G (p.Lys129Glu) rs1592324196
NM_001330311.2(DVL1):c.1547del (p.Thr516fs) rs1569684523
NM_001346249.2(RALGAPA1):c.1126C>T (p.Arg376Ter) rs1595416752
NM_001346249.2(RALGAPA1):c.4745A>G (p.Asn1582Ser) rs1595085511
NM_001346249.2(RALGAPA1):c.610G>T (p.Glu204Ter) rs1595446167
NM_001346249.2(RALGAPA1):c.6510del (p.Phe2170fs) rs1594878619
NM_001346249.2(RALGAPA1):c.7250C>G (p.Ser2417Ter) rs1594642302
NM_001347721.2(DYRK1A):c.1336del (p.Leu446fs)
NM_001347721.2(DYRK1A):c.1378C>T (p.Gln460Ter) rs1555990955
NM_001347721.2(DYRK1A):c.1635_1636del (p.His545fs) rs1601319352
NM_001348768.2(HECW2):c.3829T>C (p.Tyr1277His) rs1575255333
NM_001348768.2(HECW2):c.4321T>C (p.Phe1441Leu) rs1575240506
NM_001349206.2(LPIN1):c.942del (p.Pro315fs) rs1572770217
NM_001349338.3(FOXP1):c.1426_1428+1del rs1575803923
NM_001353345.2(SETD1B):c.5828A>G (p.Tyr1943Cys) rs1877026008
NM_001353921.2(ARHGEF9):c.402+1G>C
NM_001353921.2(ARHGEF9):c.813_814del (p.His271fs)
NM_001356.5(DDX3X):c.1148C>G (p.Ala383Gly) rs1602134248
NM_001356.5(DDX3X):c.1316-2A>G rs1602135698
NM_001356.5(DDX3X):c.780T>G (p.Tyr260Ter) rs2063889019
NM_001356.5(DDX3X):c.841C>T (p.Gln281Ter) rs2147353543
NM_001356.5(DDX3X):c.977G>A (p.Arg326His) rs797045025
NM_001358921.2(COQ2):c.220T>A (p.Tyr74Asn) rs1577993720
NM_001365536.1(SCN9A):c.4364del (p.Val1455fs) rs1553478584
NM_001365902.3(NFIX):c.113G>A (p.Arg38His) rs2013223468
NM_001365902.3(NFIX):c.346C>T (p.Arg116Trp) rs1555696603
NM_001365951.3(KIF1B):c.3079C>T (p.Arg1027Ter) rs886042662
NM_001367873.1(SOX6):c.2077C>T (p.Arg693Ter) rs2119818223
NM_001368809.2(AMPD2):c.2165T>G (p.Leu722Arg) rs1553230375
NM_001368882.1(COL13A1):c.685-1164T>C rs1554943789
NM_001368894.2(PAX6):c.664C>T (p.Arg222Trp) rs757259413
NM_001370100.5(ZMYND11):c.1798C>T (p.Arg600Trp) rs797044854
NM_001370658.1(BTD):c.772C>G (p.Leu258Val) rs397514388
NM_001371279.1(REEP1):c.377T>A (p.Leu126Ter)
NM_001371596.2(MFSD8):c.881C>A (p.Thr294Lys) rs140948465
NM_001371623.1(TCOF1):c.1639_1640del (p.Ser547fs) rs587776583
NM_001371727.1(GABRB2):c.877C>T (p.Arg293Trp) rs1554093891
NM_001371928.1(AHDC1):c.1519A>T (p.Lys507Ter) rs1553159383
NM_001371928.1(AHDC1):c.3182del (p.Ser1061fs)
NM_001371928.1(AHDC1):c.3623G>A (p.Trp1208Ter) rs1571229515
NM_001371986.1(UNC80):c.7700_7701del (p.Thr2567fs) rs1575147319
NM_001371986.1(UNC80):c.8771_8772del (p.Lys2924fs) rs1553621490
NM_001372066.1(TFAP2A):c.752T>C (p.Leu251Pro) rs1581262652
NM_001372066.1(TFAP2A):c.769A>G (p.Arg257Gly) rs121909574
NM_001374736.1(DST):c.5850del (p.Pro1950_Val1951insTer)
NM_001374828.1(ARID1B):c.1870C>T (p.Gln624Ter) rs754167205
NM_001374828.1(ARID1B):c.3312dup (p.Glu1105fs) rs1791918216
NM_001374828.1(ARID1B):c.4378C>T (p.Arg1460Ter) rs773740590
NM_001374828.1(ARID1B):c.6623_6650dup (p.Asn2217_Asn2218insProLeuTer) rs1554237992
NM_001374828.1(ARID1B):c.6751C>T (p.Arg2251Ter) rs1554238072
NM_001375380.1(EBF3):c.454C>T (p.Arg152Cys) rs2134623972
NM_001375380.1(EBF3):c.656T>C (p.Val219Ala) rs1852554969
NM_001376.5(DYNC1H1):c.10280A>C (p.Gln3427Pro) rs1555411394
NM_001376.5(DYNC1H1):c.1195A>G (p.Arg399Gly) rs1595599240
NM_001377.3(DYNC2H1):c.8190G>T (p.Leu2730Phe) rs770800903
NM_001377142.1(PLCB4):c.1924G>A (p.Asp642Asn) rs1568763104
NM_001377265.1(MAPT):c.2014AAG[1] (p.Lys673del) rs63750688
NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu) rs63751273
NM_001377265.1(MAPT):c.2091+16C>T rs63751011
NM_001377265.1(MAPT):c.2135C>T (p.Ser712Phe) rs63750635
NM_001377265.1(MAPT):c.2184G>C (p.Gln728His) rs1598408073
NM_001377265.1(MAPT):c.2266C>A (p.Pro756Thr) rs1598408336
NM_001378120.1(MBD5):c.397+2T>C
NM_001378418.1(TCF20):c.2200G>T (p.Gly734Ter) rs1921197915
NM_001378418.1(TCF20):c.3943_3944del (p.Asp1315fs)
NM_001378418.1(TCF20):c.4441_4444dup (p.Ser1482fs) rs1601593180
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001378454.1(ALMS1):c.9540-2A>G
NM_001378457.1(DMXL2):c.7521-1G>A rs1595908479
NM_001378969.1(KCND3):c.1130C>T (p.Thr377Met) rs1571636501
NM_001378974.1(FBXW11):c.856T>C (p.Trp286Arg) rs1758225061
NM_001379110.1(SLC9A6):c.1599_1603del (p.Arg534fs) rs1603219805
NM_001379200.1(TBX1):c.412G>A (p.Glu138Lys) rs1445910672
NM_001379228.1(MRAP):c.1A>G (p.Met1Val) rs1555897462
NM_001379659.1(ZNF142):c.1417_1418del (p.Lys473fs) rs1447313633
NM_001379659.1(ZNF142):c.1892del (p.Cys631fs) rs1559296368
NM_001382.4(DPAGT1):c.698T>C (p.Phe233Ser) rs1450090350
NM_001384140.1(PCDH15):c.475-2A>G
NM_001384732.1(CPLANE1):c.767C>A (p.Ala256Asp) rs1799919744
NM_001385079.1(PDE10A):c.1450C>T (p.Arg484Trp) rs1332740547
NM_001385079.1(PDE10A):c.1799T>G (p.Phe600Cys) rs1554258695
NM_001386135.1(AFF3):c.713T>G (p.Met238Arg) rs1682014084
NM_001386393.1(PANK2):c.755_758del (p.Tyr252fs) rs1600542260
NM_001386393.1(PANK2):c.756C>A (p.Tyr252Ter) rs1600542275
NM_001395002.1(MAP4K4):c.3458_3459del (p.Val1153fs)
NM_001395891.1(CLASP1):c.196-570C>T rs750325275
NM_001399.5(EDA):c.526+1del rs1602614410
NM_001399.5(EDA):c.865del (p.Arg289fs)
NM_001415.4(EIF2S3):c.431C>T (p.Thr144Ile) rs751468976
NM_001457.4(FLNB):c.1082G>A (p.Gly361Asp) rs794727854
NM_001457.4(FLNB):c.1945C>T (p.Arg649Ter) rs80356517
NM_001457.4(FLNB):c.5555-5_5561del rs1575457582
NM_001492.6(GDF1):c.1047_1050del (p.Phe349fs) rs768027510
NM_001555.5(IGSF1):c.2407dup (p.His803fs) rs1603404297
NM_001605.3(AARS1):c.1171C>T (p.Arg391Cys) rs147580372
NM_001613.4(ACTA2):c.536G>A (p.Arg179His) rs387906592
NM_001614.5(ACTG1):c.728C>T (p.Pro243Leu) rs1598548256
NM_001614.5(ACTG1):c.94C>T (p.Pro32Ser) rs1598551290
NM_001615.4(ACTG2):c.348C>A (p.Asn116Lys) rs757905857
NM_001658.4(ARF1):c.55C>T (p.Arg19Cys) rs2124857065
NM_001689.5(ATP5MC3):c.318C>G (p.Asn106Lys) rs757411192
NM_001690.4(ATP6V1A):c.955C>T (p.Pro319Ser) rs2108034196
NM_001696.4(ATP6V1E1):c.634C>T (p.Arg212Trp) rs1028534806
NM_001697.3(ATP5PO):c.329-20A>G
NM_001697.3(ATP5PO):c.34C>T (p.Gln12Ter)
NM_001743.6(CALM2):c.396T>G (p.Asp132Glu) rs398124648
NM_001743.6(CALM2):c.414C>G (p.Asn138Lys) rs1553431702
NM_001759.4(CCND2):c.839C>T (p.Thr280Ile) rs587777620
NM_001791.4(CDC42):c.191A>G (p.Tyr64Cys) rs864309721
NM_001830.4(CLCN4):c.1399G>A (p.Gly467Ser) rs1602159841
NM_001844.5(COL2A1):c.1979G>A (p.Gly660Glu) rs1555166729
NM_001844.5(COL2A1):c.2862C>T (p.Gly954=) rs367806541
NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) rs121912874
NM_001844.5(COL2A1):c.3598-1G>A rs1592196867
NM_001845.6(COL4A1):c.1353dup (p.Gly452fs) rs1594568948
NM_001845.6(COL4A1):c.155G>A (p.Gly52Asp)
NM_001845.6(COL4A1):c.1947_1959del (p.Ala650fs)
NM_001845.6(COL4A1):c.3308G>A (p.Gly1103Glu) rs1877796592
NM_001845.6(COL4A1):c.3950G>T (p.Gly1317Val)
NM_001845.6(COL4A1):c.4020dup (p.Gly1341fs)
NM_001845.6(COL4A1):c.625G>A (p.Gly209Ser)
NM_001845.6(COL4A1):c.921dup (p.Gly308fs) rs1594579579
NM_001846.4(COL4A2):c.1856G>A (p.Gly619Asp) rs1594088780
NM_001848.3(COL6A1):c.1056+1del rs1556425853
NM_001853.4(COL9A3):c.183+4A>C rs1555821817
NM_001854.4(COL11A1):c.3816+1G>A rs398122828
NM_001875.5(CPS1):c.3980G>A (p.Cys1327Tyr) rs1553518389
NM_001904.4(CTNNB1):c.1543C>T (p.Arg515Ter) rs397514554
NM_001904.4(CTNNB1):c.1900G>T (p.Glu634Ter) rs1575334103
NM_001904.4(CTNNB1):c.468dup (p.Thr157fs) rs1575316657
NM_001904.4(CTNNB1):c.999C>G (p.Tyr333Ter) rs778624338
NM_001927.4(DES):c.1216C>T (p.Arg406Trp) rs121913003
NM_001953.5(TYMP):c.323G>A (p.Trp108Ter)
NM_001958.5(EEF1A2):c.364G>A (p.Glu122Lys)
NM_001987.5(ETV6):c.641C>T (p.Pro214Leu) rs724159947
NM_002016.2(FLG):c.10350C>A (p.Tyr3450Ter)
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002016.2(FLG):c.2929C>T (p.Gln977Ter) rs144419479
NM_002055.5(GFAP):c.1246C>T (p.Arg416Trp) rs121909717
NM_002070.4(GNAI2):c.544A>C (p.Thr182Pro)
NM_002074.5(GNB1):c.226G>A (p.Asp76Asn) rs1646697327
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002087.4(GRN):c.1252C>T (p.Arg418Ter) rs63751180
NM_002087.4(GRN):c.146G>A (p.Trp49Ter) rs1598362746
NM_002087.4(GRN):c.264G>A (p.Glu88=) rs63751166
NM_002087.4(GRN):c.328C>T (p.Arg110Ter) rs63750411
NM_002087.4(GRN):c.349+1G>C rs1598363083
NM_002087.4(GRN):c.424dup (p.Met142fs) rs1598363490
NM_002087.4(GRN):c.675_676del (p.Ser226fs) rs63751085
NM_002087.4(GRN):c.709-2A>G rs63750548
NM_002087.4(GRN):c.709-4_713del rs1598364296
NM_002087.4(GRN):c.759_760del (p.Cys253_Asp254delinsTer) rs63751035
NM_002087.4(GRN):c.882T>G (p.Tyr294Ter) rs794729670
NM_002087.4(GRN):c.918C>A (p.Cys306Ter) rs1598364782
NM_002181.4(IHH):c.1A>G (p.Met1Val)
NM_002181.4(IHH):c.415dup (p.His139fs)
NM_002294.3(LAMP2):c.718C>T (p.Gln240Ter) rs1556101420
NM_002294.3(LAMP2):c.928G>A (p.Val310Ile) rs104894858
NM_002317.7(LOX):c.389C>A (p.Ser130Ter)
NM_002317.7(LOX):c.681C>G (p.Tyr227Ter)
NM_002340.6(LSS):c.304C>G (p.Leu102Val) rs1569039353
NM_002354.3(EPCAM):c.373_374insC (p.Arg125fs) rs1553342984
NM_002361.4(MAG):c.1126C>T (p.Gln376Ter) rs2066456693
NM_002361.4(MAG):c.1522C>T (p.Arg508Ter) rs2066519362
NM_002361.4(MAG):c.517_521dup (p.Trp174Ter) rs771777424
NM_002397.5(MEF2C):c.638-2A>C rs1554102556
NM_002480.3(PPP1R12A):c.2698C>T (p.Arg900Ter) rs868109198
NM_002495.4(NDUFS4):c.178-2A>G rs1554059248
NM_002495.4(NDUFS4):c.316C>T (p.Arg106Ter) rs104893898
NM_002495.4(NDUFS4):c.470_471del (p.Lys156_Ser157insTer) rs1554062427
NM_002496.4(NDUFS8):c.170G>C (p.Arg57Pro)
NM_002496.4(NDUFS8):c.441G>C (p.Met147Ile) rs1267554976
NM_002576.5(PAK1):c.1427T>C (p.Ile476Thr) rs1591695781
NM_002585.4(PBX1):c.413_419del (p.Gly138fs) rs1553247020
NM_002585.4(PBX1):c.661G>T (p.Glu221Ter) rs1571431145
NM_002641.4(PIGA):c.355C>T (p.Arg119Trp) rs587777396
NM_002641.4(PIGA):c.56G>A (p.Arg19Gln) rs1555945553
NM_002691.4(POLD1):c.1809CTC[1] (p.Ser605del) rs398122386
NM_002693.3(POLG):c.1362G>T (p.Glu454Asp) rs1596358408
NM_002693.3(POLG):c.2515del (p.Ala839fs) rs1596352895
NM_002693.3(POLG):c.3574_3577del (p.Lys1191_Glu1192insTer) rs1596348443
NM_002693.3(POLG):c.844T>G (p.Tyr282Asp) rs1290567099
NM_002715.4(PPP2CA):c.263A>G (p.Asp88Gly) rs1561737008
NM_002715.4(PPP2CA):c.722A>G (p.His241Arg) rs1580636613
NM_002715.4(PPP2CA):c.724C>G (p.Gln242Glu) rs1580636611
NM_002730.3(PRKACA):c.617T>G (p.Leu206Arg) rs386352352
NM_002730.4(PRKACA):c.597_599dup (p.Leu199_Cys200insTrp) rs724160013
NM_002745.5(MAPK1):c.946T>C (p.Tyr316His)
NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu) rs397516792
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002764.4(PRPS1):c.433T>G (p.Leu145Val) rs768454424
NM_002804.5(PSMC3):c.910C>T (p.Arg304Trp)
NM_002816.5(PSMD12):c.148_149del (p.Leu50fs) rs1598574154
NM_002834.5(PTPN11):c.1271C>T (p.Pro424Leu) rs1592852902
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro) rs121918470
NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr) rs121918453
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.417G>T (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) rs397507531
NM_002860.4(ALDH18A1):c.2345A>C (p.Tyr782Ser) rs774047299
NM_002880.4(RAF1):c.524A>G (p.His175Arg) rs397516822
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002900.3(RBP3):c.1472del (p.Leu491fs)
NM_002968.3(SALL1):c.2686_2689dup (p.Val897fs) rs1597228568
NM_002968.3(SALL1):c.826C>T (p.Arg276Ter) rs104894537
NM_002971.6(SATB1):c.1924C>T (p.Arg642Ter) rs752755275
NM_002971.6(SATB1):c.542C>T (p.Pro181Leu)
NM_002972.4(SBF1):c.3826+1G>A rs1009209509
NM_003011.4(SET):c.418_419del (p.Ser140fs) rs1589460606
NM_003042.4(SLC6A1):c.1070C>T (p.Ala357Val) rs1553689859
NM_003042.4(SLC6A1):c.1084G>A (p.Gly362Arg) rs1131691302
NM_003042.4(SLC6A1):c.149G>T (p.Arg50Leu) rs766945941
NM_003051.4(SLC16A1):c.41del (p.Pro14fs)
NM_003070.5(SMARCA2):c.2648C>T (p.Pro883Leu) rs281875188
NM_003072.5(SMARCA4):c.1675G>A (p.Glu559Lys) rs1600082188
NM_003072.5(SMARCA4):c.2653C>T (p.Arg885Cys) rs281875227
NM_003072.5(SMARCA4):c.3557C>T (p.Ala1186Val) rs1600388982
NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del) rs875989800
NM_003106.4(SOX2):c.59dup (p.Gly21fs) rs398122803
NM_003108.4(SOX11):c.146T>G (p.Ile49Ser)
NM_003108.4(SOX11):c.250G>C (p.Gly84Arg)
NM_003108.4(SOX11):c.353A>C (p.Tyr118Ser) rs1572216329
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003124.5(SPR):c.381C>G (p.Asn127Lys) rs1366748724
NM_003128.3(SPTBN1):c.5961+2T>C
NM_003172.4(SURF1):c.574_575insCTGC (p.Arg192fs) rs782289759
NM_003172.4(SURF1):c.845_846del (p.Ser282fs) rs782316919
NM_003242.6(TGFBR2):c.1524+1G>A rs727503475
NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn) rs727504421
NM_003285.3(TNR):c.1594G>A (p.Asp532Asn) rs892080402
NM_003285.3(TNR):c.1899del (p.Glu634fs) rs1571360953
NM_003285.3(TNR):c.207C>G (p.Tyr69Ter) rs1389178206
NM_003285.3(TNR):c.2713C>T (p.Arg905Ter) rs1287757170
NM_003285.3(TNR):c.2744_2745del (p.Val915fs) rs1571339601
NM_003285.3(TNR):c.3357C>G (p.Ser1119Arg) rs1571329071
NM_003321.5(TUFM):c.989G>C (p.Arg330Pro) rs924099073
NM_003361.4(UMOD):c.317G>A (p.Cys106Tyr) rs398123697
NM_003361.4(UMOD):c.358T>G (p.Cys120Gly) rs1555487621
NM_003361.4(UMOD):c.651C>G (p.Cys217Trp) rs1596561934
NM_003403.5(YY1):c.1118A>G (p.His373Arg) rs1891340236
NM_003482.4(KMT2D):c.10624C>G (p.Leu3542Val) rs1943099362
NM_003482.4(KMT2D):c.11093dup (p.Phe3699fs) rs35493001
NM_003482.4(KMT2D):c.13378_13379insCA (p.His4460fs) rs1555187452
NM_003482.4(KMT2D):c.15157GACCTG[3] (p.5053DL[3]) rs398123725
NM_003482.4(KMT2D):c.2091dup (p.Thr698fs) rs1938028530
NM_003482.4(KMT2D):c.3292del (p.Met1098fs) rs1592152233
NM_003482.4(KMT2D):c.3754C>T (p.Arg1252Ter) rs727503987
NM_003482.4(KMT2D):c.5104C>T (p.Arg1702Ter) rs886043414
NM_003482.4(KMT2D):c.510G>A (p.Gln170=)
NM_003482.4(KMT2D):c.5627_5630del (p.Asp1876fs) rs1555193738
NM_003482.4(KMT2D):c.8443dup (p.Gln2815fs) rs1943354251
NM_003491.4(NAA10):c.259G>T (p.Ala87Ser) rs1557107543
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs) rs727503909
NM_003542.4(H4C3):c.274A>C (p.Lys92Gln) rs1763200003
NM_003560.4(PLA2G6):c.757G>A (p.Gly253Ser) rs745643715
NM_003571.4(BFSP2):c.449G>A (p.Trp150Ter)
NM_003590.5(CUL3):c.264+2T>G
NM_003601.4(SMARCA5):c.1301_1306del (p.Ile434_Leu435del)
NM_003601.4(SMARCA5):c.2677G>A (p.Glu893Lys)
NM_003638.3(ITGA8):c.2982+2T>C rs587777279
NM_003647.3(DGKE):c.889-1G>A rs312262696
NM_003705.5(SLC25A12):c.1618G>A (p.Asp540Asn) rs1553469156
NM_003718.5(CDK13):c.2638C>T (p.Arg880Cys) rs1005618432
NM_003722.5(TP63):c.1790T>C (p.Ile597Thr) rs1577213466
NM_003791.4(MBTPS1):c.1995C>G (p.Tyr665Ter) rs1273822522
NM_003791.4(MBTPS1):c.955G>T (p.Val319Phe) rs2086110956
NM_003793.4(CTSF):c.1247T>C (p.Ile416Thr) rs1565311875
NM_003919.3(SGCE):c.170T>G (p.Leu57Arg) rs1584700882
NM_003919.3(SGCE):c.272T>G (p.Leu91Ter)
NM_003919.3(SGCE):c.289C>T (p.Arg97Ter) rs121908489
NM_003919.3(SGCE):c.314A>G (p.Gln105Arg) rs1584692239
NM_003919.3(SGCE):c.491T>C (p.Phe164Ser)
NM_003919.3(SGCE):c.549_552del (p.Phe183fs) rs1554352952
NM_003919.3(SGCE):c.619del (p.Arg207fs) rs1554352819
NM_003919.3(SGCE):c.703dup (p.Cys235fs)
NM_003919.3(SGCE):c.742T>A (p.Cys248Ser) rs1584546494
NM_003919.3(SGCE):c.778A>T (p.Lys260Ter)
NM_003919.3(SGCE):c.783dup (p.Phe262fs) rs1189469219
NM_003919.3(SGCE):c.786del (p.Arg263fs) rs1584546238
NM_003919.3(SGCE):c.812G>A (p.Cys271Tyr) rs372686312
NM_003919.3(SGCE):c.898_899del (p.Glu300fs)
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004006.3(DMD):c.1292G>A (p.Trp431Ter) rs1556875224
NM_004006.3(DMD):c.78T>G (p.Asn26Lys) rs794727272
NM_004006.3(DMD):c.9568C>T (p.Arg3190Ter) rs104894797
NM_004055.5(CAPN5):c.865C>T (p.Arg289Trp) rs886041303
NM_004082.5(DCTN1):c.212G>A (p.Gly71Glu) rs67586389
NM_004092.4(ECHS1):c.74G>C (p.Arg25Pro) rs1554886769
NM_004092.4(ECHS1):c.856_857dup (p.Asn286fs) rs1554885530
NM_004187.5(KDM5C):c.2214C>A (p.Cys738Ter)
NM_004333.6(BRAF):c.1574T>A (p.Leu525Gln) rs869025340
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg) rs180177041
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004333.6(BRAF):c.823G>A (p.Glu275Lys) rs2129044284
NM_004341.5(CAD):c.1843-3C>T rs1057519262
NM_004341.5(CAD):c.98T>G (p.Met33Arg) rs751610198
NM_004366.6(CLCN2):c.71G>A (p.Gly24Asp) rs1085307938
NM_004397.6(DDX6):c.1052C>T (p.Ala351Val)
NM_004407.4(DMP1):c.362del (p.Pro121fs) rs587776696
NM_004415.4(DSP):c.1234C>T (p.Gln412Ter) rs1758912749
NM_004415.4(DSP):c.1691C>T (p.Thr564Ile) rs606231295
NM_004425.4(ECM1):c.542_543insAACCAAATCTGAA (p.Cys181Ter)
NM_004429.5(EFNB1):c.451G>A (p.Gly151Ser) rs28936069
NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro) rs387907170
NM_004493.3(HSD17B10):c.388C>T (p.Arg130Cys) rs28935475
NM_004493.3(HSD17B10):c.517G>C (p.Gly173Arg) rs1602426573
NM_004522.3(KIF5C):c.709G>A (p.Glu237Lys) rs587777570
NM_004523.4(KIF11):c.1305+1G>A rs1589600695
NM_004523.4(KIF11):c.2922G>A (p.Pro974=)
NM_004523.4(KIF11):c.945_946del (p.Lys315fs)
NM_004539.4(NARS1):c.616G>A (p.Glu206Lys)
NM_004586.3(RPS6KA3):c.1894C>T (p.Arg632Ter) rs1085307639
NM_004612.4(TGFBR1):c.640G>A (p.Gly214Ser) rs727503470
NM_004643.3(PABPN1):c.3GGC[11] (p.Ala11_Gly12insAlaAlaAlaAla) rs193922941
NM_004646.4(NPHS1):c.3523_3524del (p.Leu1175fs) rs1420307327
NM_004646.4(NPHS1):c.515_517del (p.Thr172del) rs386833947
NM_004818.3(DDX23):c.1886T>G (p.Ile629Ser) rs1938405472
NM_004820.5(CYP7B1):c.1091C>T (p.Ser364Leu) rs770065565
NM_004826.4(ECEL1):c.2151+2T>A rs762979130
NM_004855.5(PIGB):c.1611A>G (p.Ile537Met) rs2056056414
NM_004859.4(CLTC):c.1745C>T (p.Thr582Met)
NM_004928.3(CFAP410):c.643-23A>T rs1131690800
NM_004958.4(MTOR):c.7500T>G (p.Ile2500Met) rs1057519915
NM_004960.4(FUS):c.1394-2del rs1555509569
NM_004973.4(JARID2):c.348G>T (p.Lys116Asn)
NM_004974.4(KCNA2):c.881G>A (p.Arg294His) rs886041761
NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys) rs1555889130
NM_004985.5(KRAS):c.440A>T (p.Lys147Met)
NM_004990.3(MARS):c.[1700C>T;1177G>A]
NM_004990.3(MARS1):c.[1031A>G];[1177G>A[1700C>T]
NM_004990.4(MARS1):c.1814A>T (p.Asp605Val) rs756021768
NM_004998.4(MYO1E):c.2060T>C (p.Leu687Ser) rs1596351849
NM_005006.7(NDUFS1):c.988-2A>C
NM_005027.4(PIK3R2):c.988T>G (p.Trp330Gly) rs2043757489
NM_005032.7(PLS3):c.216_219del (p.Ser73fs) rs2074664927
NM_005050.4(ABCD4):c.719+2T>G rs2082518811
NM_005120.3(MED12):c.2546C>T (p.Ser849Phe)
NM_005149.3(TBX19):c.568C>T (p.Gln190Ter) rs1553289042
NM_005154.3(USP8):c.[2138T>G;2150A>G]
NM_005154.5(USP8):c.2152T>C (p.Ser718Pro) rs672601307
NM_005154.5(USP8):c.2152TCC[1] (p.Ser719del) rs672601306
NM_005154.5(USP8):c.2153C>G (p.Ser718Cys) rs672601308
NM_005154.5(USP8):c.2159C>G (p.Pro720Arg) rs672601311
NM_005188.4(CBL):c.1100A>C (p.Gln367Pro) rs267606704
NM_005199.5(CHRNG):c.292_300dup (p.Leu100_Arg101insTrpValLeu)
NM_005199.5(CHRNG):c.351-2A>G
NM_005236.3(ERCC4):c.2026G>T (p.Glu676Ter)
NM_005249.5(FOXG1):c.1222A>T (p.Asn408Tyr) rs1594384249
NM_005249.5(FOXG1):c.1248C>G (p.Tyr416Ter) rs786204999
NM_005249.5(FOXG1):c.406G>T (p.Glu136Ter) rs1057520663
NM_005249.5(FOXG1):c.506del (p.Gly169fs) rs1452295073
NM_005249.5(FOXG1):c.703C>T (p.Leu235Phe) rs1566445489
NM_005249.5(FOXG1):c.777del (p.Ser260fs) rs1594383798
NM_005249.5(FOXG1):c.800G>A (p.Gly267Asp)
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005402.4(RALA):c.472G>A (p.Ala158Thr)
NM_005458.8(GABBR2):c.1699G>A (p.Ala567Thr) rs922847767
NM_005461.5(MAFB):c.184A>G (p.Thr62Ala) rs387907004
NM_005465.7(AKT3):c.1330A>G (p.Ile444Val) rs1574509510
NM_005506.4(SCARB2):c.134del (p.Asn45fs) rs1578733075
NM_005518.4(HMGCS2):c.1017-2del rs1553240165
NM_005518.4(HMGCS2):c.772del (p.Ser258fs) rs1553240525
NM_005591.4(MRE11):c.1112dup (p.Gly372fs) rs1591681273
NM_005591.4(MRE11):c.820_821del (p.Leu274fs) rs1565228898
NM_005602.6(CLDN11):c.622T>C (p.Ter208Gln) rs2108249442
NM_005604.4(POU3F2):c.812A>T (p.Glu271Val) rs1769989432
NM_005612.5(REST):c.2770C>T (p.Gln924Ter) rs1284461687
NM_005618.4(DLL1):c.1903del (p.Arg635fs)
NM_005629.4(SLC6A8):c.1145C>T (p.Pro382Leu) rs1557045250
NM_005629.4(SLC6A8):c.149dup (p.Pro51fs)
NM_005629.4(SLC6A8):c.1661C>T (p.Pro554Leu) rs397515559
NM_005629.4(SLC6A8):c.974_975del (p.Thr325fs) rs1060502808
NM_005633.4(SOS1):c.305C>T (p.Pro102Leu)
NM_005654.6(NR2F1):c.327C>A (p.Phe109Leu) rs1753211889
NM_005687.5(FARSB):c.1202G>A (p.Arg401Gln) rs1553553086
NM_005687.5(FARSB):c.1381A>C (p.Thr461Pro) rs1396171148
NM_005687.5(FARSB):c.784A>G (p.Lys262Glu) rs1553554543
NM_005859.5(PURA):c.298_315del (p.Leu100_Ser105del) rs1763043820
NM_005859.5(PURA):c.366_367dup (p.Gln123fs) rs1554129069
NM_005859.5(PURA):c.565G>C (p.Ala189Pro) rs1581036496
NM_005859.5(PURA):c.640G>T (p.Glu214Ter) rs1581036558
NM_005859.5(PURA):c.725dup (p.Phe243fs) rs1554129114
NM_005861.4(STUB1):c.194A>G (p.Asn65Ser) rs690016544
NM_005861.4(STUB1):c.427AAG[2] (p.Lys145del) rs779647632
NM_005861.4(STUB1):c.823dup (p.Leu275fs) rs2039704361
NM_005916.5(MCM7):c.133C>T (p.Gln45Ter)
NM_005916.5(MCM7):c.776G>C (p.Gly259Ala) rs758105856
NM_005918.4(MDH2):c.755C>T (p.Ala252Val)
NM_005918.4(MDH2):c.884G>T (p.Gly295Val)
NM_005993.5(TBCD):c.1504C>G (p.Arg502Gly) rs752953575
NM_005993.5(TBCD):c.230A>G (p.His77Arg) rs1409600874
NM_005993.5(TBCD):c.2380-1G>A rs1599617641
NM_006003.3(UQCRFS1):c.215-1G>C rs1568344751
NM_006003.3(UQCRFS1):c.41T>A (p.Val14Asp) rs1568346416
NM_006003.3(UQCRFS1):c.610C>T (p.Arg204Ter) rs1242465339
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) rs387906930
NM_006005.3(WFS1):c.2224dup (p.Cys742fs) rs1578612324
NM_006005.3(WFS1):c.2638_2643del (p.Asp880_Phe881del) rs1272826809
NM_006009.4(TUBA1A):c.1169G>A (p.Arg390His) rs1064796460
NM_006086.4(TUBB3):c.763G>A (p.Val255Ile) rs1057517908
NM_006087.4(TUBB4A):c.1054G>T (p.Ala352Ser) rs886041015
NM_006087.4(TUBB4A):c.1065C>A (p.Asp355Glu) rs1599405952
NM_006087.4(TUBB4A):c.1228G>A (p.Glu410Lys) rs587777428
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_006208.3(ENPP1):c.2101-2A>T rs1585841844
NM_006208.3(ENPP1):c.2248dup (p.Ser750fs) rs587776797
NM_006208.3(ENPP1):c.2444+702_*868del
NM_006208.3(ENPP1):c.2677G>T (p.Glu893Ter) rs121918023
NM_006208.3(ENPP1):c.430+1del rs1554278331
NM_006208.3(ENPP1):c.797G>T (p.Gly266Val) rs121908248
NM_006218.4(PIK3CA):c.1346C>T (p.Pro449Leu)
NM_006218.4(PIK3CA):c.2173G>A (p.Asp725Asn)
NM_006236.3(POU3F3):c.1217A>G (p.Lys406Arg) rs1676574002
NM_006236.3(POU3F3):c.398_407del (p.Pro133fs) rs1573320043
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006245.4(PPP2R5D):c.751G>T (p.Asp251Tyr) rs1762178916
NM_006245.4(PPP2R5D):c.752A>C (p.Asp251Ala) rs1064794719
NM_006265.3(RAD21):c.3G>A (p.Met1Ile) rs1586276006
NM_006265.3(RAD21):c.497A>G (p.Asp166Gly) rs1586268625
NM_006269.2(RP1):c.3157del (p.Tyr1053fs) rs748709396
NM_006280.3(SSR4):c.141dup (p.Val48fs) rs2092142348
NM_006295.3(VARS1):c.181G>T (p.Glu61Ter) rs746631390
NM_006295.3(VARS1):c.3344C>G (p.Thr1115Arg) rs373279419
NM_006302.3(MOGS):c.1880T>C (p.Leu627Pro) rs757997140
NM_006306.4(SMC1A):c.1785_1788del (p.Ile595fs) rs1602410239
NM_006306.4(SMC1A):c.3497A>C (p.Asn1166Thr) rs1556885810
NM_006346.4(PIBF1):c.1801C>T (p.Arg601Ter) rs1594219498
NM_006397.3(RNASEH2A):c.859T>C (p.Tyr287His)
NM_006415.4(SPTLC1):c.112CTT[1] (p.Leu39del) rs1197928094
NM_006494.4(ERF):c.566_567del (p.Asp188_Cys189insTer) rs1555750816
NM_006516.4(SLC2A1):c.101A>G (p.Asn34Ser) rs80359812
NM_006516.4(SLC2A1):c.1199_1200insGAG (p.Arg400_Pro401insSer) rs1570590905
NM_006516.4(SLC2A1):c.1234T>G (p.Trp412Gly) rs1570590859
NM_006516.4(SLC2A1):c.493G>A (p.Val165Ile) rs1057520545
NM_006516.4(SLC2A1):c.500del (p.Gly167fs)
NM_006516.4(SLC2A1):c.732del (p.Met244fs) rs1553156069
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) rs80359825
NM_006517.5(SLC16A2):c.731del (p.Met244fs)
NM_006521.6(TFE3):c.374_379del (p.123AQ[1])
NM_006521.6(TFE3):c.560C>T (p.Thr187Met) rs2064742925
NM_006545.5(NPRL2):c.100C>T (p.Arg34Ter) rs886037963
NM_006545.5(NPRL2):c.232C>T (p.Arg78Cys)
NM_006565.4(CTCF):c.1079G>T (p.Ser360Ile) rs1597718106
NM_006565.4(CTCF):c.958C>G (p.Arg320Gly) rs1161257134
NM_006567.5(FARS2):c.1163T>G (p.Ile388Ser) rs1407198979
NM_006567.5(FARS2):c.192C>G (p.Ser64Arg) rs1554169280
NM_006579.3(EBP):c.329G>A (p.Arg110Gln) rs1602090481
NM_006593.4(TBR1):c.1250C>A (p.Ser417Ter)
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs) rs869312704
NM_006593.4(TBR1):c.1731dup (p.Ala578fs) rs1574152672
NM_006618.5(KDM5B):c.2830dup (p.Leu944fs)
NM_006734.4(HIVEP2):c.3678dup (p.Gln1227fs)
NM_006744.4(RBP4):c.526G>T (p.Glu176Ter) rs2058283703
NM_006766.5(KAT6A):c.3306del (p.Lys1103fs) rs1587713892
NM_006766.5(KAT6A):c.3318_3319insCT (p.Glu1107fs) rs1587713866
NM_006766.5(KAT6A):c.4228_4232del (p.Lys1410fs) rs1554679889
NM_006766.5(KAT6A):c.5505_5506del (p.Asn1836fs)
NM_006772.3(SYNGAP1):c.1466_1469del (p.Leu489fs)
NM_006772.3(SYNGAP1):c.2143C>T (p.Pro715Ser)
NM_006772.3(SYNGAP1):c.509G>A (p.Arg170Gln) rs1057519546
NM_006772.3(SYNGAP1):c.767A>G (p.Asn256Ser)
NM_006796.3(AFG3L2):c.1119T>A (p.Ser373Arg) rs1598832568
NM_006852.6(TLK2):c.968+1G>C rs1598620094
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006912.6(RIT1):c.233G>A (p.Gly78Glu) rs1557960268
NM_006914.4(RORB):c.357dup (p.Arg120fs) rs1587401875
NM_006915.3(RP2):c.450G>A (p.Trp150Ter) rs1924906177
NM_006940.6(SOX5):c.1814A>C (p.Tyr605Ser) rs1591833522
NM_006946.4(SPTBN2):c.1052G>C (p.Arg351Pro) rs541484241
NM_006946.4(SPTBN2):c.1877T>C (p.Leu626Pro) rs1554984881
NM_006946.4(SPTBN2):c.5991_5992del (p.Glu1997fs) rs1590911156
NM_007055.4(POLR3A):c.1051C>T (p.Arg351Ter) rs769791060
NM_007055.4(POLR3A):c.1771-6C>G rs115020338
NM_007055.4(POLR3A):c.1771-7C>G rs201314157
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
NM_007118.4(TRIO):c.4276G>T (p.Val1426Phe) rs1579522661
NM_007118.4(TRIO):c.5619G>A (p.Met1873Ile)
NM_007126.5(VCP):c.464G>A (p.Arg155His) rs121909329
NM_007241.4(SNF8):c.236C>T (p.Pro79Leu)
NM_007241.4(SNF8):c.304G>A (p.Val102Ile)
NM_007241.4(SNF8):c.423-1G>C
NM_007241.4(SNF8):c.501C>A (p.Tyr167Ter)
NM_007241.4(SNF8):c.572G>A (p.Gly191Asp)
NM_007241.4(SNF8):c.623G>T (p.Arg208Leu)
NM_007241.4(SNF8):c.673_683delinsTGGA (p.Asp225fs)
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs) rs587784365
NM_007254.4(PNKP):c.1261_1262insGGGTCGCCATCGACAAC (p.Ile421fs) rs1600416052
NM_007294.4(BRCA1):c.213-12A>G rs80358163
NM_007325.5(GRIA3):c.1949C>T (p.Ala650Val)
NM_007327.4(GRIN1):c.1342del (p.Arg448fs) rs1588727276
NM_007327.4(GRIN1):c.352G>A (p.Val118Met) rs1588686286
NM_007363.5(NONO):c.107del (p.Pro36fs) rs1602385860
NM_012062.5(DNM1L):c.1207C>T (p.Arg403Cys) rs863223953
NM_012062.5(DNM1L):c.176C>T (p.Thr59Ile)
NM_012062.5(DNM1L):c.428C>G (p.Thr143Arg)
NM_012123.4(MTO1):c.1222A>T (p.Ile408Phe)
NM_012123.4(MTO1):c.1429C>T (p.Arg477Cys) rs1033653237
NM_012123.4(MTO1):c.963A>C (p.Lys321Asn) rs1554148965
NM_012144.4(DNAI1):c.1003G>T (p.Val335Phe) rs11793196
NM_012179.4(FBXO7):c.1144+1G>T rs730880272
NM_012179.4(FBXO7):c.152del (p.Asn51fs) rs1228608709
NM_012199.5(AGO1):c.650-2A>G rs1645271555
NM_012330.4(KAT6B):c.3041_3042del (p.Gln1014fs) rs1589824355
NM_012330.4(KAT6B):c.3477_3480dup (p.Asp1161delinsLeuTer) rs1589831585
NM_012330.4(KAT6B):c.4205_4206del (p.Ser1402fs) rs199470477
NM_012330.4(KAT6B):c.4584del (p.Glu1529fs) rs1554845902
NM_012479.4(YWHAG):c.395G>A (p.Arg132His) rs1583981615
NM_012479.4(YWHAG):c.628_642del (p.Thr210_Asp214del)
NM_013254.4(TBK1):c.1922AAG[2] (p.Glu643del) rs1402092579
NM_013254.4(TBK1):c.427C>T (p.Arg143Cys) rs1027249002
NM_013254.4(TBK1):c.86dup (p.Lys30fs) rs1592350883
NM_013254.4(TBK1):c.87G>A (p.Lys29=) rs1592350887
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs) rs886039734
NM_013275.6(ANKRD11):c.2273_2274del (p.Leu758fs) rs1597461334
NM_013275.6(ANKRD11):c.2704G>T (p.Glu902Ter) rs1597459649
NM_013275.6(ANKRD11):c.2716C>T (p.Arg906Ter) rs929007085
NM_013275.6(ANKRD11):c.2826_2829del (p.Arg942fs) rs1597459077
NM_013275.6(ANKRD11):c.3228_3232del (p.Arg1076fs)
NM_013275.6(ANKRD11):c.4206C>G (p.Tyr1402Ter) rs749632782
NM_013275.6(ANKRD11):c.6807_6808del (p.Ala2270fs) rs1597435393
NM_014028.4(OSTM1):c.783+5G>T rs1554250938
NM_014112.5(TRPS1):c.1630C>T (p.Arg544Ter) rs886040971
NM_014112.5(TRPS1):c.2798G>A (p.Cys933Tyr) rs1812971156
NM_014159.7(SETD2):c.5761G>T (p.Glu1921Ter) rs2041433287
NM_014171.6(CRIPT):c.132del (p.Ala45fs) rs771238795
NM_014225.6(PPP2R1A):c.430C>T (p.Arg144Cys) rs2122329969
NM_014225.6(PPP2R1A):c.544C>T (p.Arg182Trp) rs786205227
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_014239.4(EIF2B2):c.946G>T (p.Val316Phe) rs761055346
NM_014334.4(FRRS1L):c.283dup (p.Ile95fs) rs878853283
NM_014362.4(HIBCH):c.212A>C (p.Gln71Pro) rs1553506164
NM_014362.4(HIBCH):c.830T>A (p.Val277Glu) rs1553499757
NM_014363.6(SACS):c.8793del (p.Lys2931fs) rs767871841
NM_014491.4(FOXP2):c.1690C>T (p.Arg564Ter) rs2129341954
NM_014491.4(FOXP2):c.553C>T (p.Gln185Ter) rs1584969672
NM_014516.4(CNOT3):c.93G>A (p.Lys31=) rs2074521998
NM_014625.4(NPHS2):c.156del (p.Thr53fs) rs1272948499
NM_014625.4(NPHS2):c.379G>A (p.Val127Ile) rs1572282458
NM_014625.4(NPHS2):c.467dup (p.Leu156fs) rs528833893
NM_014625.4(NPHS2):c.576_577del (p.Ile192fs) rs1572277600
NM_014712.3(SETD1A):c.1287dup (p.Ser430fs) rs2056118338
NM_014712.3(SETD1A):c.4618C>T (p.Gln1540Ter)
NM_014727.3(KMT2B):c.1603C>T (p.Arg535Cys)
NM_014727.3(KMT2B):c.1633C>T (p.Arg545Ter) rs1057519279
NM_014727.3(KMT2B):c.3335-9_3363del rs1969359289
NM_014727.3(KMT2B):c.3632G>A (p.Gly1211Glu) rs1599679995
NM_014727.3(KMT2B):c.3700G>A (p.Glu1234Lys) rs1599680351
NM_014727.3(KMT2B):c.424C>T (p.Arg142Ter) rs748888652
NM_014727.3(KMT2B):c.4549C>T (p.Arg1517Ter) rs1459799356
NM_014727.3(KMT2B):c.4847C>T (p.Ala1616Val) rs1599687853
NM_014727.3(KMT2B):c.521dup (p.Thr176fs) rs763183959
NM_014727.3(KMT2B):c.6406del (p.Leu2136fs) rs1057519278
NM_014727.3(KMT2B):c.7012del (p.Asp2338fs)
NM_014727.3(KMT2B):c.7050-2A>G rs1057519280
NM_014727.3(KMT2B):c.7693C>G (p.Arg2565Gly)
NM_014762.4(DHCR24):c.1532G>A (p.Cys511Tyr) rs200415528
NM_014795.4(ZEB2):c.2761C>T (p.Arg921Ter) rs587784566
NM_014795.4(ZEB2):c.425_429del (p.Ser142fs) rs1573722407
NM_014795.4(ZEB2):c.770_771del (p.Glu257fs) rs1573721065
NM_014795.4(ZEB2):c.899A>G (p.His300Arg) rs1573718595
NM_014874.4(MFN2):c.1252C>T (p.Arg418Ter) rs1057517987
NM_014874.4(MFN2):c.1839dup (p.Thr614fs) rs1553145402
NM_014874.4(MFN2):c.2129T>C (p.Leu710Pro) rs1557537223
NM_014874.4(MFN2):c.839G>A (p.Arg280His) rs28940294
NM_014946.4(SPAST):c.1169T>A (p.Met390Lys) rs1131691977
NM_014946.4(SPAST):c.1360G>A (p.Glu454Lys) rs1553318230
NM_014946.4(SPAST):c.1456A>G (p.Thr486Ala) rs1553318320
NM_014946.4(SPAST):c.1484C>T (p.Ala495Val) rs1553318347
NM_014946.4(SPAST):c.1493+2_1493+5del rs1558337180
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_014946.4(SPAST):c.1553T>C (p.Leu518Pro) rs1553319290
NM_014946.4(SPAST):c.1684C>T (p.Arg562Ter) rs121908518
NM_015046.7(SETX):c.6464T>G (p.Leu2155Trp) rs1473613373
NM_015100.4(POGZ):c.2819_2826del (p.Leu940fs)
NM_015100.4(POGZ):c.2989C>T (p.Arg997Ter) rs1553212545
NM_015135.3(NUP205):c.3329T>C (p.Leu1110Pro) rs1584675898
NM_015178.3(RHOBTB2):c.1382G>A (p.Arg461His) rs1554504663
NM_015178.3(RHOBTB2):c.1453C>T (p.Arg485Cys) rs1563292586
NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp) rs1554504681
NM_015178.3(RHOBTB2):c.1466G>A (p.Arg489Gln) rs1554504684
NM_015215.4(CAMTA1):c.2416_2419del (p.Ser806fs)
NM_015215.4(CAMTA1):c.3585_3592del (p.Trp1197fs) rs2096780961
NM_015335.5(MED13L):c.2600C>T (p.Thr867Ile) rs1555246143
NM_015335.5(MED13L):c.747_748del (p.Lys250fs) rs1592953902
NM_015338.6(ASXL1):c.2036dup (p.Gly680fs) rs1600586587
NM_015338.6(ASXL1):c.217A>T (p.Lys73Ter) rs1555901138
NM_015338.6(ASXL1):c.3942_3957del (p.Gln1315fs)
NM_015355.4(SUZ12):c.1657C>T (p.Gln553Ter) rs1909936773
NM_015378.4(VPS13D):c.12743C>A (p.Ala4248Glu) rs779850187
NM_015378.4(VPS13D):c.2020C>T (p.Arg674Ter) rs756025227
NM_015488.5(PNKD):c.26C>T (p.Ala9Val) rs121434511
NM_015506.3(MMACHC):c.792_818del (p.Ser264_Pro272del) rs753855245
NM_015559.3(SETBP1):c.2425C>T (p.Gln809Ter) rs1599368323
NM_015559.3(SETBP1):c.3802G>T (p.Gly1268Trp)
NM_015570.4(AUTS2):c.1547dup (p.Pro517fs) rs1585653028
NM_015570.4(AUTS2):c.1604A>C (p.His535Pro) rs1585653240
NM_015570.4(AUTS2):c.946C>T (p.Arg316Ter) rs1554480537
NM_015836.4(WARS2):c.149G>A (p.Gly50Asp) rs1571323203
NM_015836.4(WARS2):c.295CTT[1] (p.Leu100del) rs772867219
NM_015836.4(WARS2):c.532G>C (p.Val178Leu) rs912133959
NM_015836.4(WARS2):c.622G>T (p.Glu208Ter) rs137890886
NM_015836.4(WARS2):c.91-8725_349-3571del
NM_015915.5(ATL1):c.1217AGA[1] (p.Lys407del) rs1595625099
NM_015915.5(ATL1):c.1243C>T (p.Arg415Trp) rs119476050
NM_015915.5(ATL1):c.715C>T (p.Arg239Cys) rs119476046
NM_015981.4(CAMK2A):c.666C>A (p.Tyr222Ter)
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys) rs1163170578
NM_016038.4(SBDS):c.167T>C (p.Val56Ala) rs1584437592
NM_016038.4(SBDS):c.18del (p.Thr7fs) rs1584439050
NM_016098.4(MPC1):c.214A>G (p.Lys72Glu) rs1554264977
NM_016123.4(IRAK4):c.333del (p.Leu112fs)
NM_016284.5(CNOT1):c.434-2A>G
NM_016284.5(CNOT1):c.550del (p.Leu184fs)
NM_016495.6(TBC1D7):c.747dup (p.Val250fs) rs1554192525
NM_016529.6(ATP8A2):c.691_701del (p.Leu231fs) rs2038491713
NM_016580.4(PCDH12):c.311G>A (p.Cys104Tyr)
NM_016604.4(KDM3B):c.2743_2745del (p.Arg915del)
NM_016604.4(KDM3B):c.2828G>A (p.Arg943Gln) rs1334033128
NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr) rs146664036
NM_017613.4(DONSON):c.683G>A (p.Trp228Ter) rs777061964
NM_017649.5(CNNM2):c.364G>A (p.Glu122Lys) rs786205909
NM_017714.3(TASP1):c.199C>T (p.Arg67Ter) rs1200336864
NM_017775.4(TTC19):c.554T>C (p.Leu185Pro) rs1187416161
NM_017780.4(CHD7):c.1663C>T (p.Gln555Ter)
NM_017780.4(CHD7):c.1735C>T (p.Gln579Ter) rs780953224
NM_017780.4(CHD7):c.2858G>A (p.Trp953Ter) rs1554597465
NM_017780.4(CHD7):c.5381T>C (p.Leu1794Pro) rs1064795943
NM_017780.4(CHD7):c.5405-7G>A rs398124321
NM_017780.4(CHD7):c.5680_5681dup (p.Ser1894fs) rs1554603818
NM_017780.4(CHD7):c.7285G>T (p.Glu2429Ter) rs773047607
NM_017780.4(CHD7):c.7800_7801dup (p.Tyr2601fs)
NM_017807.4(OSGEP):c.839G>A (p.Arg280His) rs144732839
NM_017825.3(ADPRS):c.744_746del (p.Lys248_Ile249delinsAsn) rs1570013257
NM_017866.6(TMEM70):c.378dup (p.Thr127fs) rs1554599411
NM_017946.4(FKBP14):c.636G>C (p.Ter212Tyr) rs1583725395
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup) rs753112330
NM_018006.5(TRMU):c.653G>T (p.Ser218Ile) rs1601977105
NM_018006.5(TRMU):c.954dup (p.Ala319fs) rs863224242
NM_018017.4(CCDC186):c.767C>G (p.Ser256Ter) rs2119807637
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018075.5(ANO10):c.1025G>A (p.Trp342Ter) rs1405576707
NM_018075.5(ANO10):c.1551dup (p.Ala518fs) rs2079693628
NM_018105.3(THAP1):c.112del (p.Ala38fs) rs1586457084
NM_018105.3(THAP1):c.11C>T (p.Ser4Phe)
NM_018105.3(THAP1):c.14G>A (p.Cys5Tyr) rs1586459413
NM_018127.7(ELAC2):c.1028T>G (p.Met343Arg) rs1555575927
NM_018127.7(ELAC2):c.929A>C (p.Glu310Ala) rs1555576642
NM_018238.4(AGK):c.1211_1237del (p.Leu404_Lys412del) rs1554405947
NM_018238.4(AGK):c.298-2A>G rs1554401640
NM_018294.6(CWF19L1):c.1114C>T (p.Gln372Ter) rs1846512047
NM_018297.4(NGLY1):c.1264C>T (p.Gln422Ter) rs1575614945
NM_018297.4(NGLY1):c.1533_1536del (p.Asn511fs) rs765211108
NM_018684.4(ZC4H2):c.172G>T (p.Glu58Ter)
NM_018684.4(ZC4H2):c.22_23del (p.Met8fs) rs1555945816
NM_018896.5(CACNA1G):c.4592T>C (p.Met1531Thr)
NM_018972.4(GDAP1):c.349dup (p.Tyr117fs) rs1586803063
NM_019042.5(PUS7):c.99_100del (p.Lys34fs) rs765326959
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_020247.5(COQ8A):c.1013C>T (p.Ala338Val) rs767406263
NM_020247.5(COQ8A):c.175C>T (p.Gln59Ter) rs1572040505
NM_020247.5(COQ8A):c.656-1G>T rs903436781
NM_020297.4(ABCC9):c.3460C>T (p.Arg1154Trp) rs387907208
NM_020312.4(COQ9):c.521+1del rs786205897
NM_020320.5(RARS2):c.1237+1G>A rs759922477
NM_020435.4(GJC2):c.108C>G (p.Ile36Met) rs75469429
NM_020442.6(VARS2):c.1400G>C (p.Arg467Pro) rs775439829
NM_020442.6(VARS2):c.1463_1465del (p.Gly488del) rs1554268077
NM_020638.3(FGF23):c.367G>T (p.Gly123Trp) rs1220533001
NM_020638.3(FGF23):c.385T>C (p.Ser129Pro) rs1555096583
NM_020638.3(FGF23):c.535C>T (p.Arg179Trp) rs28937882
NM_020638.3(FGF23):c.536G>A (p.Arg179Gln) rs193922702
NM_020706.2(SCAF4):c.1295_1296del (p.Arg432fs)
NM_020745.4(AARS2):c.2356G>A (p.Ala786Thr) rs1554147776
NM_020745.4(AARS2):c.2531T>C (p.Leu844Pro) rs1170907347
NM_020791.4(TAOK1):c.1263_1264dup (p.Pro422fs)
NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln)
NM_020919.4(ALS2):c.3583G>T (p.Gly1195Ter) rs1574698048
NM_020919.4(ALS2):c.553del (p.Thr185fs) rs386134174
NM_020919.4(ALS2):c.601C>T (p.Arg201Ter) rs1574787779
NM_020919.4(ALS2):c.913del (p.Glu304_Leu305insTer) rs1574786641
NM_020964.3(EPG5):c.1501A>T (p.Lys501Ter) rs1203870830
NM_020964.3(EPG5):c.1924C>T (p.Arg642Ter) rs912986968
NM_020988.3(GNAO1):c.4G>C (p.Gly2Arg)
NM_020988.3(GNAO1):c.607G>A (p.Gly203Arg)
NM_020988.3(GNAO1):c.625C>T (p.Arg209Cys) rs886039494
NM_020988.3(GNAO1):c.626G>A (p.Arg209His) rs797044878
NM_021629.4(GNB4):c.229G>A (p.Gly77Arg) rs1553851490
NM_021964.3(ZNF148):c.1630_1631del (p.Leu544fs) rs1579576029
NM_021964.3(ZNF148):c.845A>G (p.Asp282Gly) rs1579578234
NM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn) rs397509422
NM_022101.4(STEEP1):c.492AGAGGA[1] (p.Glu167_Glu168del) rs2053171807
NM_022168.4(IFIH1):c.2159G>A (p.Arg720Gln) rs587777445
NM_022445.4(TPK1):c.576T>G (p.Cys192Trp) rs1554523224
NM_022455.5(NSD1):c.2289_2317dup (p.Ala773delinsValArgThrArgTer) rs1581319867
NM_022455.5(NSD1):c.3038C>G (p.Ser1013Ter) rs1006906224
NM_022455.5(NSD1):c.4766-2A>G rs1581457332
NM_022455.5(NSD1):c.5359A>G (p.Met1787Val)
NM_022489.4(INF2):c.226CTG[2] (p.Leu78del) rs1889499325
NM_022489.4(INF2):c.529C>T (p.Arg177Cys) rs1595166085
NM_022489.4(INF2):c.658G>A (p.Glu220Lys) rs530391015
NM_022552.5(DNMT3A):c.994G>A (p.Gly332Arg) rs760854242
NM_022575.4(VPS16):c.1335T>G (p.Tyr445Ter) rs374769660
NM_022575.4(VPS16):c.1389C>G (p.Tyr463Ter) rs2146673211
NM_022575.4(VPS16):c.1988_1989insG (p.Asn663fs)
NM_022575.4(VPS16):c.559C>T (p.Arg187Ter) rs754351705
NM_023067.4(FOXL2):c.843_859dup (p.Pro287fs) rs672601359
NM_023110.3(FGFR1):c.1977+1G>A rs876661334
NM_023110.3(FGFR1):c.287C>G (p.Ser96Cys)
NM_024057.4(NUP37):c.225dup (p.Asp76Ter) rs1309880692
NM_024063.3(AFG2B):c.1090-2A>G rs779907001
NM_024063.3(AFG2B):c.1556C>A (p.Ala519Asp) rs757503048
NM_024063.3(AFG2B):c.1973G>A (p.Arg658Lys) rs1890623871
NM_024063.3(AFG2B):c.2006T>G (p.Met669Arg) rs1890625577
NM_024063.3(AFG2B):c.2176_2177del (p.Val726fs) rs1890710370
NM_024301.5(FKRP):c.941C>T (p.Thr314Met) rs398124395
NM_024306.5(FA2H):c.102C>G (p.Tyr34Ter) rs957683798
NM_024306.5(FA2H):c.786G>A (p.Lys262=)
NM_024306.5(FA2H):c.910G>T (p.Gly304Cys)
NM_024339.5(THOC6):c.445C>T (p.Gln149Ter) rs374551434
NM_024417.5(FDXR):c.332T>C (p.Val111Ala)
NM_024417.5(FDXR):c.564_575del (p.Leu189_Ala192del)
NM_024420.3(PLA2G4A):c.494dup (p.Arg166fs) rs1571392612
NM_024426.6(WT1):c.1268A>G (p.Glu423Gly)
NM_024426.6(WT1):c.1447+4C>T rs587776577
NM_024426.6(WT1):c.523G>T (p.Gly175Cys) rs1590409377
NM_024496.4(IRF2BPL):c.2135_2136insGT (p.Leu713fs) rs1885090260
NM_024577.4(SH3TC2):c.1897del (p.Ala633fs) rs1064797314
NM_024577.4(SH3TC2):c.3601C>T (p.Gln1201Ter) rs80338937
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) rs768443448
NM_024649.5(BBS1):c.831-3C>G rs113994179
NM_024665.7(TBL1XR1):c.524G>A (p.Cys175Tyr)
NM_024665.7(TBL1XR1):c.799G>T (p.Gly267Cys) rs1577017863
NM_024665.7(TBL1XR1):c.973_975dup (p.Cys325dup) rs1715105181
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_024735.5(FBXO31):c.1000G>A (p.Asp334Asn) rs2150668444
NM_024757.5(EHMT1):c.1588C>T (p.Arg530Ter) rs1554871138
NM_024757.5(EHMT1):c.508del (p.Gln170fs) rs1945392174
NM_024818.6(UBA5):c.910G>A (p.Asp304Asn) rs772888455
NM_024876.4(COQ8B):c.1447G>T (p.Glu483Ter) rs398122980
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs) rs62640570
NM_025136.4(OPA3):c.254G>A (p.Gly85Asp) rs1599964721
NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter) rs312262723
NM_025137.4(SPG11):c.3454-28A>G
NM_025216.3(WNT10A):c.1199G>A (p.Cys400Tyr) rs1575235227
NM_030632.3(ASXL3):c.1210C>T (p.Gln404Ter) rs587777061
NM_030632.3(ASXL3):c.1419dup (p.Pro474fs)
NM_030632.3(ASXL3):c.3014_3015dup (p.Glu1006fs) rs1599566942
NM_030632.3(ASXL3):c.3494_3495del (p.Asn1164_Cys1165insTer) rs1599571406
NM_030632.3(ASXL3):c.3827_3830dup (p.Asn1278fs) rs1599572151
NM_030632.3(ASXL3):c.4330C>T (p.Arg1444Ter) rs1555744282
NM_030662.4(MAP2K2):c.376A>G (p.Asn126Asp) rs1057519806
NM_030665.4(RAI1):c.1069_1070insC (p.Ser357fs) rs1598088235
NM_030912.3(TRIM8):c.1375C>T (p.Gln459Ter) rs866294686
NM_030916.3(NECTIN4):c.229C>T (p.Gln77Ter) rs1571153052
NM_030948.6(PHACTR1):c.209C>G (p.Pro70Arg)
NM_031229.4(RBCK1):c.896_899del (p.Glu299fs) rs727503764
NM_031293.3(PMFBP1):c.2278_2281del (p.Lys760fs) rs769554360
NM_031407.7(HUWE1):c.12037C>T (p.Arg4013Trp) rs121918525
NM_031407.7(HUWE1):c.6098-20_6109del rs1602738933
NM_031418.4(ANO3):c.1528G>A (p.Glu510Lys) rs1590612392
NM_031418.4(ANO3):c.1699G>A (p.Gly567Arg) rs2132929609
NM_031418.4(ANO3):c.1943A>G (p.Asn648Ser) rs1590658782
NM_031418.4(ANO3):c.1969G>A (p.Ala657Thr) rs1478393931
NM_031448.6(C19orf12):c.105_106del (p.Ala37fs)
NM_031448.6(C19orf12):c.205C>T (p.Gln69Ter) rs1064797235
NM_031448.6(C19orf12):c.371dup (p.Met124fs) rs1568326754
NM_031844.3(HNRNPU):c.575C>A (p.Ser192Ter) rs1333692140
NM_032436.4(CHAMP1):c.1489C>T (p.Arg497Ter) rs782397980
NM_032620.4(GTPBP3):c.1112T>C (p.Leu371Pro) rs770871640
NM_032620.4(GTPBP3):c.517C>T (p.Arg173Trp) rs1274363168
NM_032620.4(GTPBP3):c.643G>T (p.Glu215Ter) rs1555726849
NM_032730.5(RTN4IP1):c.313C>T (p.Pro105Ser) rs1582392486
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys) rs797044995
NM_032856.5(WDR73):c.706_719dup (p.Ser240fs) rs1596050297
NM_032856.5(WDR73):c.766dup (p.Arg256fs) rs727502864
NM_032861.4(SERAC1):c.1211G>A (p.Gly404Glu)
NM_032861.4(SERAC1):c.91+6T>C rs1554265452
NM_032888.4(COL27A1):c.3075del (p.Lys1026fs) rs5900078
NM_032888.4(COL27A1):c.93del (p.Phe32fs) rs1588550383
NM_032930.3(CFAP300):c.200del (p.Phe67fs) rs745839898
NM_033380.3(COL4A5):c.1402C>T (p.Gln468Ter) rs1603287820
NM_033380.3(COL4A5):c.1423G>A (p.Gly475Ser) rs281874667
NM_033380.3(COL4A5):c.1424-2A>C rs759179999
NM_033380.3(COL4A5):c.1481del (p.Gly494fs)
NM_033380.3(COL4A5):c.1673G>A (p.Gly558Asp) rs1603290148
NM_033380.3(COL4A5):c.1751_1756del (p.Pro584_Gly585del) rs1603290199
NM_033380.3(COL4A5):c.1807G>A (p.Gly603Ser) rs1603290681
NM_033380.3(COL4A5):c.188dup (p.Phe64fs) rs1603276159
NM_033380.3(COL4A5):c.1904G>T (p.Gly635Val) rs281874683
NM_033380.3(COL4A5):c.1976_1977del (p.Ile659fs) rs1603291770
NM_033380.3(COL4A5):c.2048_2050del (p.Pro683_Gly684delinsArg) rs1603292021
NM_033380.3(COL4A5):c.2104G>C (p.Gly702Arg)
NM_033380.3(COL4A5):c.225del (p.Gln76fs) rs1603276180
NM_033380.3(COL4A5):c.2300dup (p.Lys768fs) rs1603293553
NM_033380.3(COL4A5):c.2314G>A (p.Gly772Ser) rs1603293570
NM_033380.3(COL4A5):c.2359G>A (p.Gly787Arg) rs1603293605
NM_033380.3(COL4A5):c.2378G>A (p.Gly793Glu) rs1603293624
NM_033380.3(COL4A5):c.2465G>T (p.Gly822Val) rs1291655627
NM_033380.3(COL4A5):c.2606G>T (p.Gly869Val) rs1603297334
NM_033380.3(COL4A5):c.3008G>T (p.Gly1003Val)
NM_033380.3(COL4A5):c.3197G>A (p.Gly1066Asp) rs104886221
NM_033380.3(COL4A5):c.3206G>T (p.Gly1069Val) rs281874712
NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser) rs104886228
NM_033380.3(COL4A5):c.3499G>A (p.Gly1167Ser) rs104886236
NM_033380.3(COL4A5):c.367G>A (p.Gly123Arg) rs1569488426
NM_033380.3(COL4A5):c.3685G>A (p.Gly1229Ser) rs1569505771
NM_033380.3(COL4A5):c.3721G>T (p.Gly1241Cys) rs104886255
NM_033380.3(COL4A5):c.3772G>A (p.Gly1258Ser) rs1603311030
NM_033380.3(COL4A5):c.4063del (p.Glu1355fs) rs1556453276
NM_033380.3(COL4A5):c.4217-1G>A rs587776402
NM_033380.3(COL4A5):c.446del (p.Pro149fs) rs104886054
NM_033380.3(COL4A5):c.4470T>G (p.Tyr1490Ter) rs1603323355
NM_033380.3(COL4A5):c.4543_4544insTTAG (p.Cys1515fs) rs1603326397
NM_033380.3(COL4A5):c.4808A>G (p.Tyr1603Cys) rs104886298
NM_033380.3(COL4A5):c.5038C>T (p.Arg1680Ter) rs281874753
NM_033380.3(COL4A5):c.538G>A (p.Gly180Arg) rs281874755
NM_033380.3(COL4A5):c.546+1G>A rs104886429
NM_033380.3(COL4A5):c.546+2dup rs1569489353
NM_033380.3(COL4A5):c.609+1G>A rs104886434
NM_033380.3(COL4A5):c.611G>A (p.Gly204Asp) rs104886063
NM_033380.3(COL4A5):c.645+1G>T rs1603282474
NM_033380.3(COL4A5):c.687del (p.Gly230fs) rs1556405926
NM_033380.3(COL4A5):c.761_762del (p.Glu254fs) rs104886443
NM_033380.3(COL4A5):c.817G>A (p.Gly273Arg)
NM_033380.3(COL4A5):c.866G>A (p.Gly289Asp) rs104886450
NM_033380.3(COL4A5):c.919G>C (p.Gly307Arg)
NM_033380.3(COL4A5):c.956G>T (p.Gly319Val)
NM_033380.3(COL4A5):c.973G>A (p.Gly325Arg) rs104886088
NM_033380.3(COL4A5):c.973G>C (p.Gly325Arg) rs104886088
NM_033453.4(ITPA):c.271T>C (p.Phe91Leu) rs1600509558
NM_033453.4(ITPA):c.359_366dup (p.Gly123fs) rs1407446171
NM_033517.1(SHANK3):c.3679dup (p.Ala1227fs) rs762292772
NM_052859.4(RFT1):c.775G>A (p.Gly259Ser) rs1575494302
NM_052867.4(NALCN):c.1733A>G (p.Tyr578Cys) rs786203988
NM_052867.4(NALCN):c.3345A>C (p.Lys1115Asn)
NM_052867.4(NALCN):c.3542G>A (p.Arg1181Gln) rs786201003
NM_052874.5(STX1B):c.165dup (p.Gln56fs) rs1596719437
NM_052874.5(STX1B):c.293G>A (p.Ser98Asn) rs781210585
NM_053025.4(MYLK):c.1321C>T (p.Pro441Ser) rs928811814
NM_053274.3(GLMN):c.108C>A (p.Cys36Ter) rs770780171
NM_057175.5(NAA15):c.430C>T (p.Arg144Ter) rs1560966086
NM_058246.4(DNAJB6):c.279C>G (p.Phe93Leu) rs149278319
NM_078480.3(PUF60):c.1342C>T (p.Arg448Ter) rs1563819620
NM_078480.3(PUF60):c.712_713del (p.Ser238fs) rs1816555365
NM_078629.4(MSL3):c.1314C>A (p.Tyr438Ter) rs746387441
NM_078629.4(MSL3):c.1466+1G>A rs1601774648
NM_080632.3(UPF3B):c.1351del (p.Arg451fs) rs1556377028
NM_080632.3(UPF3B):c.575_578del (p.Glu191_Leu192insTer) rs1603371016
NM_080680.3(COL11A2):c.2087_2090del (p.Glu696fs) rs1583335192
NM_130466.4(UBE3B):c.2568+1G>A rs1555269815
NM_130466.4(UBE3B):c.2990G>C (p.Arg997Pro) rs539407162
NM_130811.4(SNAP25):c.601A>T (p.Lys201Ter) rs2123205373
NM_130837.3(OPA1):c.1734dup (p.Gln579fs) rs1560377736
NM_130837.3(OPA1):c.2779-9A>G rs1716524583
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_133259.4(LRPPRC):c.2723AGA[1] (p.Lys909del) rs863225445
NM_134261.3(RORA):c.867_876dup (p.Glu293fs) rs1595874842
NM_138459.5(NUS1):c.238_263del (p.Ala80fs) rs1582461267
NM_138477.4(CDAN1):c.2066C>A (p.Ala689Glu) rs140334403
NM_138576.4(BCL11B):c.1500dup (p.Gly501fs) rs1595215462
NM_138576.4(BCL11B):c.1742del (p.Gly581fs) rs1886447945
NM_138576.4(BCL11B):c.2048del (p.Ser683fs) rs1595214071
NM_138576.4(BCL11B):c.2421C>G (p.Asn807Lys) rs888230251
NM_138576.4(BCL11B):c.2513A>G (p.Lys838Arg)
NM_138694.4(PKHD1):c.4187C>T (p.Pro1396Leu) rs1581809655
NM_138694.4(PKHD1):c.9182_9183insATTAGTGACA (p.Asn3062fs) rs1582441668
NM_138773.4(SLC25A46):c.736A>T (p.Arg246Ter) rs1554093168
NM_138927.4(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_139125.4(MASP1):c.518del (p.Ile173fs) rs1579537069
NM_139242.4(MTFMT):c.91C>T (p.Arg31Ter) rs1555404423
NM_144643.4(SCLT1):c.1043del (p.Ser348fs)
NM_144643.4(SCLT1):c.2060dup (p.Asn687fs)
NM_145207.3(AFG2A):c.2384C>G (p.Pro795Arg) rs1553934697
NM_145207.3(AFG2A):c.700C>T (p.Gln234Ter) rs775269863
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del) rs796052243
NM_145239.3(PRRT2):c.457_458del (p.Lys153fs)
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_152296.5(ATP1A3):c.1838C>T (p.Thr613Met)
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His) rs606231435
NM_152296.5(ATP1A3):c.2312C>T (p.Thr771Ile) rs557939077
NM_152296.5(ATP1A3):c.2332A>C (p.Thr778Pro) rs1599706511
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
NM_152296.5(ATP1A3):c.2543G>C (p.Gly848Ala) rs1599705281
NM_152296.5(ATP1A3):c.266G>C (p.Gly89Ala) rs1599725621
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn) rs267606670
NM_152393.4(KLHL40):c.176G>C (p.Arg59Pro) rs778303947
NM_152490.5(B3GALNT2):c.51_73dup (p.Ser25fs) rs367543069
NM_152564.5(VPS13B):c.80A>G (p.Gln27Arg) rs1587912461
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del) rs752762669
NM_152641.4(ARID2):c.1784_1785del (p.His595fs) rs1943504725
NM_152641.4(ARID2):c.2114del (p.Ser705fs) rs1592118927
NM_152641.4(ARID2):c.4126_4142del (p.Ile1376fs)
NM_152641.4(ARID2):c.890C>T (p.Ser297Phe)
NM_152743.4(BRAT1):c.394_423dup (p.Ala141_Asp142insGlnHisProSerAlaLeuArgPheLeuAla)
NM_153332.4(ERI1):c.730C>T (p.Gln244Ter) rs766625084
NM_153682.3(PIGP):c.384del (p.Glu129fs) rs778481061
NM_153704.6(TMEM67):c.579del (p.Gly195fs) rs386834203
NM_153766.3(KCNJ1):c.251C>T (p.Ala84Val)
NM_170606.3(KMT2C):c.1951_1952del (p.Glu651fs) rs1588571802
NM_170665.4(ATP2A2):c.2381T>A (p.Val794Asp) rs1592864859
NM_170707.4(LMNA):c.134A>G (p.Tyr45Cys) rs58436778
NM_170707.4(LMNA):c.1385A>C (p.Gln462Pro) rs1553265999
NM_172107.4(KCNQ2):c.1622G>C (p.Arg541Thr) rs1555853970
NM_172107.4(KCNQ2):c.2127del (p.Val710fs) rs118192244
NM_172107.4(KCNQ2):c.821C>T (p.Thr274Met) rs727503974
NM_172107.4(KCNQ2):c.841G>C (p.Gly281Arg) rs794727813
NM_172107.4(KCNQ2):c.937G>A (p.Gly313Arg)
NM_172362.3(KCNH1):c.1486G>A (p.Gly496Arg) rs730882175
NM_173660.5(DOK7):c.1263dup (p.Ser422fs) rs606231129
NM_175748.4(UBR7):c.496-2A>G rs1894564374
NM_175914.5(HNF4A):c.335G>A (p.Arg112Gln) rs1085307913
NM_176787.5(PIGN):c.1717dup (p.Thr573fs) rs1555683948
NM_176787.5(PIGN):c.654T>G (p.His218Gln) rs1035743375
NM_176824.3(BBS7):c.712_715del (p.Arg238fs) rs760165634
NM_177559.3(CSNK2A1):c.154G>A (p.Glu52Lys) rs2018549058
NM_178014.4(TUBB):c.139A>G (p.Ile47Val) rs1776361528
NM_178014.4(TUBB):c.448C>T (p.Leu150Phe) rs1581668624
NM_178526.5(SLC25A42):c.871A>G (p.Asn291Asp) rs864321624
NM_181486.4(TBX5):c.1158dup (p.Ser387fs) rs1064795870
NM_181486.4(TBX5):c.835C>T (p.Arg279Ter) rs863223788
NM_181672.3(OGT):c.3139T>C (p.Ter1047Gln)
NM_181789.4(GLDN):c.86T>C (p.Leu29Pro) rs1595795343
NM_182476.3(COQ6):c.1079G>T (p.Arg360Leu) rs367817034
NM_182476.3(COQ6):c.1237G>T (p.Glu413Ter) rs1594816203
NM_182760.4(SUMF1):c.542T>G (p.Leu181Ter) rs1553575867
NM_182931.3(KMT2E):c.4743_4744del (p.Phe1582fs)
NM_182961.4(SYNE1):c.12247C>T (p.Gln4083Ter) rs1590463470
NM_182961.4(SYNE1):c.15280del (p.Asp5094fs)
NM_182961.4(SYNE1):c.4310+1G>A
NM_182961.4(SYNE1):c.4908C>A (p.Tyr1636Ter) rs771955377
NM_183357.3(ADCY5):c.1252C>T (p.Arg418Trp) rs864309483
NM_183357.3(ADCY5):c.1253G>A (p.Arg418Gln) rs864309515
NM_183357.3(ADCY5):c.1322C>T (p.Ala441Val) rs1576606282
NM_183357.3(ADCY5):c.1378A>T (p.Ile460Phe) rs1576606182
NM_183357.3(ADCY5):c.2071A>G (p.Lys691Glu) rs1553726054
NM_183357.3(ADCY5):c.2088+1G>A rs797045002
NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser) rs730882246
NM_194454.3(KRIT1):c.2025+1G>A
NM_194454.3(KRIT1):c.780C>G (p.Tyr260Ter)
NM_197968.4(ZMYM2):c.1309G>T (p.Glu437Ter)
NM_197968.4(ZMYM2):c.1398C>A (p.Cys466Ter)
NM_198252.3(GSN):c.487G>T (p.Asp163Tyr) rs121909715
NM_198271.5(LMOD3):c.1648C>T (p.Leu550Phe) rs1057519128
NM_198488.5(FAM83H):c.926_927del (p.Val309fs) rs1554623490
NM_198535.3(ZNF699):c.1310_1311del (p.His437fs)
NM_198904.4(GABRG2):c.670C>T (p.Arg224Ter) rs1045493304
NM_203475.3(PORCN):c.341T>G (p.Met114Arg)
NM_205768.3(ZBTB18):c.1283T>G (p.Phe428Cys) rs1572531730
NM_205768.3(ZBTB18):c.1423C>G (p.His475Asp)
NM_205861.3(DHDDS):c.113G>A (p.Arg38His) rs1570332505
NM_205861.3(DHDDS):c.632G>A (p.Arg211Gln) rs1553122926
NM_207037.2(TCF12):c.381del (p.Gly128fs)
NM_207111.4(RNF216):c.991C>T (p.Gln331Ter)
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521
NM_213599.3(ANO5):c.898dup (p.Ile300fs) rs1383346134
NM_213649.2(SFXN4):c.471+1G>A rs367932369
Single allele

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