ClinVar Miner

List of variants reported as pathogenic 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: 1440
Download table as spreadsheet
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_000406.3(GNRHR):c.317A>G (p.Gln106Arg) rs104893836 0.00234
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp) rs34424986 0.00226
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_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_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_001015880.2(PAPSS2):c.809G>A (p.Gly270Asp) rs138943074 0.00038
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584 0.00036
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_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_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_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_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_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_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_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_003620.4(PPM1D):c.1654C>T (p.Arg552Ter) rs779070661 0.00004
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met) rs121913659 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_177550.5(SLC13A5):c.997C>T (p.Arg333Ter) rs773770609 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.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_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_003119.4(SPG7):c.1552+1G>T rs141644720 0.00003
NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp) rs121908687 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_024306.5(FA2H):c.968C>T (p.Pro323Leu) rs774131656 0.00003
NM_148897.3(SDR9C7):c.599T>C (p.Ile200Thr) rs770729222 0.00003
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg) rs409652 0.00002
NM_000256.3(MYBPC3):c.26-2A>G rs376395543 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.457G>A (p.Glu153Lys) rs376712059 0.00002
NM_001358921.2(COQ2):c.287G>A (p.Ser96Asn) rs121918233 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_007055.4(POLR3A):c.3243-2A>G rs1462460124 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_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_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.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_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_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_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_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_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.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.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_004836.7(EIF2AK3):c.2707C>T (p.Arg903Ter) rs1178109063 0.00001
NM_004855.5(PIGB):c.392T>G (p.Leu131Ter) rs923907091 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_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_006295.3(VARS1):c.1210C>T (p.Arg404Trp) rs749228986 0.00001
NM_006302.3(MOGS):c.1862dup (p.Ala621_Glu622insTer) rs1399649784 0.00001
NM_006790.3(MYOT):c.179C>T (p.Ser60Phe) rs121908458 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_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_014625.4(NPHS2):c.538G>A (p.Val180Met) rs74315347 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_018946.4(NANS):c.448+1G>A rs779218846 0.00001
NM_020442.6(VARS2):c.1010C>T (p.Thr337Ile) rs587777585 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_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_021830.5(TWNK):c.1196A>G (p.Asn399Ser) rs863223921 0.00001
NM_022575.4(VPS16):c.1903C>T (p.Arg635Ter) rs1422519039 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_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_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.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 16q24.1-24.2(chr16:84872102-87678641)
GRCh37/hg19 16q24.2(chr16:87969915-87970056)
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 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_000018.4(ACADVL):c.515T>C (p.Leu172Pro) rs1597524963
NM_000018.4(ACADVL):c.830AGA[1] (p.Lys278del) rs769280599
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_000038.6(APC):c.311C>G (p.Ser104Ter) rs74953290
NM_000043.6(FAS):c.651+2T>C rs267607122
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
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.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.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.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_000091.5(COL4A3):c.1831G>A (p.Gly611Arg) rs1574753929
NM_000091.5(COL4A3):c.2417dup (p.Gly807fs) rs1440033157
NM_000091.5(COL4A3):c.2746+1G>T rs1574786225
NM_000091.5(COL4A3):c.2747-1G>T rs1196996393
NM_000091.5(COL4A3):c.351C>A (p.Tyr117Ter) rs750308686
NM_000091.5(COL4A3):c.816dup (p.Pro273fs) rs1574701767
NM_000092.4(COL4A4):c.1321_1369+3del rs1553676221
NM_000092.5(COL4A4):c.3699_3706+1del
NM_000092.5(COL4A4):c.594+1G>A rs1553690565
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.559G>T (p.Gly187Ter) rs121913032
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del) rs80358233
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.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.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.564G>A (p.Trp188Ter) rs189315801
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000161.3(GCH1):c.287G>A (p.Trp96Ter)
NM_000161.3(GCH1):c.631_632del (p.Met211fs) rs886039379
NM_000165.5(GJA1):c.131C>T (p.Ala44Val) rs794729675
NM_000166.6(GJB1):c.-103C>T rs863224971
NM_000166.6(GJB1):c.783_784del (p.Ile262fs) rs1602349955
NM_000170.3(GLDC):c.1654A>G (p.Met552Val) rs386833529
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_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_000256.3(MYBPC3):c.2678del (p.Pro893fs)
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.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.76del (p.Val26fs) rs75462234
NM_000278.5(PAX2):c.76dup (p.Val26fs) rs75462234
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser) rs1555933963
NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu) rs137853254
NM_000284.4(PDHA1):c.642G>T (p.Trp214Cys) rs1569191659
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.235C>T (p.Gln79Ter) rs1601780766
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_000346.4(SOX9):c.1372C>T (p.Gln458Ter) rs1555629443
NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer) rs61751389
NM_000358.3(TGFBI):c.371G>T (p.Arg124Leu) rs121909211
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_000394.4(CRYAA):c.61C>T (p.Arg21Trp) rs397515625
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp) rs104894161
NM_000426.4(LAMA2):c.4533del (p.Gly1512fs) rs1776950897
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000444.6(PHEX):c.1022T>A (p.Val341Asp) rs1556026027
NM_000444.6(PHEX):c.1044del (p.Asp349fs) rs1556026042
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.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_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.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_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.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.2427_2446dup (p.Pro816fs) rs1460246826
NM_000540.3(RYR1):c.6502G>A (p.Val2168Met) rs118192176
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_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_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_000814.6(GABRB3):c.358G>A (p.Asp120Asn) rs886037938
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_001005242.3(PKP2):c.1482G>A (p.Trp494Ter) rs397517001
NM_001005273.3(CHD3):c.1652_1653del (p.Phe551fs)
NM_001005273.3(CHD3):c.3515G>A (p.Arg1172Gln) rs1567861501
NM_001005273.3(CHD3):c.3560G>C (p.Arg1187Pro) rs1567861571
NM_001005361.3(DNM2):c.1102G>A (p.Glu368Lys) rs121909092
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.827+1G>A rs1557083958
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.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.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_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.4877G>A (p.Arg1626Gln) rs796053155
NM_001040716.2(PC):c.449_451dup (p.Gly150dup) rs1946724126
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.3097C>T (p.Arg1033Ter) rs1569520709
NM_001042750.2(STAG2):c.352dup (p.Ile118fs) rs1602977573
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.646del (p.Leu216fs) rs1555349214
NM_001079872.2(CUL4B):c.2264_2265dup (p.Glu756Ter)
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_001083619.3(GRIA2):c.1589_1619dup (p.Asp540delinsGluValGlnThrArgSerValPheLeuSerTer)
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.682G>T (p.Glu228Ter) rs1558081664
NM_001100.4(ACTA1):c.738C>A (p.Asp246Glu) rs748592740
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.1200_1243del (p.Pro400_Pro401insTer) rs61752992
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_001111067.4(ACVR1):c.617G>A (p.Arg206His) rs121912678
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu) rs606231451
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_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) rs121908212
NM_001127222.2(CACNA1A):c.4064C>A (p.Thr1355Asn) rs2056767062
NM_001127222.2(CACNA1A):c.4987C>T (p.Arg1663Ter) rs1555738369
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_001130987.2(DYSF):c.3298G>T (p.Glu1100Ter)
NM_001134407.3(GRIN2A):c.2450T>C (p.Met817Thr) rs1064796608
NM_001134673.4(NFIA):c.28-2A>G rs1646253231
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_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.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.6730C>T (p.Arg2244Ter) rs1555313027
NM_001172509.2(SATB2):c.1103_1106del (p.Val368fs) rs1574532220
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.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_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.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_001256447.2(BCAP31):c.365_366del (p.Leu122fs) rs1557047954
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_001271.4(CHD2):c.1396C>T (p.Arg466Ter) rs398123000
NM_001277062.2(MFF):c.375_376del (p.Glu127fs) rs879255690
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.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_001291415.2(KDM6A):c.140A>G (p.Glu47Gly) rs2031089646
NM_001292034.3(TAB2):c.1321C>T (p.Arg441Ter) rs1554263321
NM_001292034.3(TAB2):c.622_626del (p.Pro208fs) rs1781486601
NM_001303256.3(MORC2):c.1181A>G (p.Tyr394Cys) rs1555938796
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_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.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.2932A>G (p.Ser978Gly) rs1057519540
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_001349206.2(LPIN1):c.942del (p.Pro315fs) rs1572770217
NM_001349338.3(FOXP1):c.1426_1428+1del rs1575803923
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_001365536.1(SCN9A):c.4364del (p.Val1455fs) rs1553478584
NM_001365902.3(NFIX):c.346C>T (p.Arg116Trp) rs1555696603
NM_001367873.1(SOX6):c.2077C>T (p.Arg693Ter) rs2119818223
NM_001368809.2(AMPD2):c.2165T>G (p.Leu722Arg) rs1553230375
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_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_001377142.1(PLCB4):c.1924G>A (p.Asp642Asn) rs1568763104
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_001378120.1(MBD5):c.397+2T>C
NM_001378418.1(TCF20):c.2200G>T (p.Gly734Ter) rs1921197915
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_001379110.1(SLC9A6):c.1599_1603del (p.Arg534fs) rs1603219805
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_001385079.1(PDE10A):c.1799T>G (p.Phe600Cys) rs1554258695
NM_001386393.1(PANK2):c.755_758del (p.Tyr252fs) rs1600542260
NM_001386393.1(PANK2):c.756C>A (p.Tyr252Ter) rs1600542275
NM_001395891.1(CLASP1):c.196-570C>T rs750325275
NM_001399.5(EDA):c.865del (p.Arg289fs)
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_001555.5(IGSF1):c.2407dup (p.His803fs) rs1603404297
NM_001613.4(ACTA2):c.536G>A (p.Arg179His) rs387906592
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_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.4020dup (p.Gly1341fs)
NM_001845.6(COL4A1):c.625G>A (p.Gly209Ser)
NM_001845.6(COL4A1):c.921dup (p.Gly308fs) rs1594579579
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.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_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.415dup (p.His139fs)
NM_002294.3(LAMP2):c.718C>T (p.Gln240Ter) rs1556101420
NM_002294.3(LAMP2):c.928G>A (p.Val310Ile) rs104894858
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.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_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_002691.4(POLD1):c.1809CTC[1] (p.Ser605del) rs398122386
NM_002693.3(POLG):c.2515del (p.Ala839fs) rs1596352895
NM_002693.3(POLG):c.3574_3577del (p.Lys1191_Glu1192insTer) rs1596348443
NM_002715.4(PPP2CA):c.263A>G (p.Asp88Gly) rs1561737008
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_002755.4(MAP2K1):c.371C>T (p.Pro124Leu) rs397516792
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002804.5(PSMC3):c.910C>T (p.Arg304Trp)
NM_002816.5(PSMD12):c.148_149del (p.Leu50fs) rs1598574154
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_002880.4(RAF1):c.524A>G (p.His175Arg) rs397516822
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
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_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_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_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del) rs875989800
NM_003106.4(SOX2):c.59dup (p.Gly21fs) rs398122803
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_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.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_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_003482.4(KMT2D):c.10624C>G (p.Leu3542Val) rs1943099362
NM_003482.4(KMT2D):c.11093dup (p.Phe3699fs) rs35493001
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_003494.3(DYSF):c.2779del (p.Ala927Leufs) rs727503909
NM_003542.4(H4C3):c.274A>C (p.Lys92Gln) rs1763200003
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_003722.5(TP63):c.1790T>C (p.Ile597Thr) rs1577213466
NM_003791.4(MBTPS1):c.1995C>G (p.Tyr665Ter) rs1273822522
NM_003793.4(CTSF):c.1247T>C (p.Ile416Thr) rs1565311875
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.619del (p.Arg207fs) rs1554352819
NM_003919.3(SGCE):c.703dup (p.Cys235fs)
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.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_004341.5(CAD):c.98T>G (p.Met33Arg) rs751610198
NM_004366.6(CLCN2):c.71G>A (p.Gly24Asp) rs1085307938
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_004522.3(KIF5C):c.709G>A (p.Glu237Lys) rs587777570
NM_004523.4(KIF11):c.2922G>A (p.Pro974=)
NM_004523.4(KIF11):c.945_946del (p.Lys315fs)
NM_004586.3(RPS6KA3):c.1894C>T (p.Arg632Ter) rs1085307639
NM_004643.3(PABPN1):c.3GGC[11] (p.Ala11_Gly12insAlaAlaAlaAla) rs193922941
NM_004646.4(NPHS1):c.3523_3524del (p.Leu1175fs) rs1420307327
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_004928.3(CFAP410):c.643-23A>T rs1131690800
NM_004960.4(FUS):c.1394-2del rs1555509569
NM_004974.4(KCNA2):c.881G>A (p.Arg294His) rs886041761
NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys) rs1555889130
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_005032.7(PLS3):c.216_219del (p.Ser73fs) rs2074664927
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_005236.3(ERCC4):c.2026G>T (p.Glu676Ter)
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.777del (p.Ser260fs) rs1594383798
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005458.8(GABBR2):c.1699G>A (p.Ala567Thr) rs922847767
NM_005461.5(MAFB):c.184A>G (p.Thr62Ala) rs387907004
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_005602.6(CLDN11):c.622T>C (p.Ter208Gln) rs2108249442
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_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.366_367dup (p.Gln123fs) rs1554129069
NM_005859.5(PURA):c.640G>T (p.Glu214Ter) rs1581036558
NM_005859.5(PURA):c.725dup (p.Phe243fs) rs1554129114
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_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.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_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_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_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_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.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_006521.6(TFE3):c.560C>T (p.Thr187Met) rs2064742925
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_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.509G>A (p.Arg170Gln) rs1057519546
NM_006852.6(TLK2):c.968+1G>C rs1598620094
NM_006914.4(RORB):c.357dup (p.Arg120fs) rs1587401875
NM_006915.3(RP2):c.450G>A (p.Trp150Ter) rs1924906177
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_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_007327.4(GRIN1):c.1342del (p.Arg448fs) rs1588727276
NM_007363.5(NONO):c.107del (p.Pro36fs) rs1602385860
NM_012062.5(DNM1L):c.1207C>T (p.Arg403Cys) rs863223953
NM_012123.4(MTO1):c.1222A>T (p.Ile408Phe)
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_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.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_014159.7(SETD2):c.5761G>T (p.Glu1921Ter) rs2041433287
NM_014171.6(CRIPT):c.132del (p.Ala45fs) rs771238795
NM_014225.6(PPP2R1A):c.544C>T (p.Arg182Trp) rs786205227
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_014334.4(FRRS1L):c.283dup (p.Ile95fs) rs878853283
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_014625.4(NPHS2):c.156del (p.Thr53fs) rs1272948499
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.1633C>T (p.Arg545Ter) rs1057519279
NM_014727.3(KMT2B):c.3335-9_3363del rs1969359289
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.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_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_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.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_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.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.2020C>T (p.Arg674Ter) rs756025227
NM_015488.5(PNKD):c.26C>T (p.Ala9Val) rs121434511
NM_015559.3(SETBP1):c.2425C>T (p.Gln809Ter) rs1599368323
NM_015570.4(AUTS2):c.1547dup (p.Pro517fs) rs1585653028
NM_015570.4(AUTS2):c.946C>T (p.Arg316Ter) rs1554480537
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.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_016038.4(SBDS):c.18del (p.Thr7fs) rs1584439050
NM_016284.5(CNOT1):c.434-2A>G
NM_016495.6(TBC1D7):c.747dup (p.Val250fs) rs1554192525
NM_016529.6(ATP8A2):c.691_701del (p.Leu231fs) rs2038491713
NM_016604.4(KDM3B):c.2828G>A (p.Arg943Gln) rs1334033128
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.5405-7G>A rs398124321
NM_017780.4(CHD7):c.5680_5681dup (p.Ser1894fs) rs1554603818
NM_017807.4(OSGEP):c.839G>A (p.Arg280His) rs144732839
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.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_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_018972.4(GDAP1):c.349dup (p.Tyr117fs) rs1586803063
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
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_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_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.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_022101.4(STEEP1):c.492AGAGGA[1] (p.Glu167_Glu168del) rs2053171807
NM_022168.4(IFIH1):c.2159G>A (p.Arg720Gln) rs587777445
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_022575.4(VPS16):c.1335T>G (p.Tyr445Ter) rs374769660
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_024057.4(NUP37):c.225dup (p.Asp76Ter) rs1309880692
NM_024063.3(AFG2B):c.1090-2A>G rs779907001
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_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.1447+4C>T rs587776577
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.799G>T (p.Gly267Cys) rs1577017863
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_024876.4(COQ8B):c.1447G>T (p.Glu483Ter) rs398122980
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs) rs62640570
NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter) rs312262723
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.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_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_031418.4(ANO3):c.1528G>A (p.Glu510Lys) rs1590612392
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.643G>T (p.Glu215Ter) rs1555726849
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_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.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.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.2606G>T (p.Gly869Val) rs1603297334
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.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.5038C>T (p.Arg1680Ter) rs281874753
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.687del (p.Gly230fs) rs1556405926
NM_033380.3(COL4A5):c.761_762del (p.Glu254fs) rs104886443
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.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_052874.5(STX1B):c.165dup (p.Gln56fs) rs1596719437
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_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_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_138576.4(BCL11B):c.1500dup (p.Gly501fs) rs1595215462
NM_138576.4(BCL11B):c.2048del (p.Ser683fs) rs1595214071
NM_138576.4(BCL11B):c.2421C>G (p.Asn807Lys) rs888230251
NM_138694.4(PKHD1):c.9182_9183insATTAGTGACA (p.Asn3062fs) rs1582441668
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_145207.3(AFG2A):c.700C>T (p.Gln234Ter) rs775269863
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.2401G>A (p.Asp801Asn)
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn) rs267606670
NM_152490.5(B3GALNT2):c.51_73dup (p.Ser25fs) rs367543069
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_153682.3(PIGP):c.384del (p.Glu129fs) rs778481061
NM_153704.6(TMEM67):c.579del (p.Gly195fs) rs386834203
NM_170606.3(KMT2C):c.1951_1952del (p.Glu651fs) rs1588571802
NM_172107.4(KCNQ2):c.2127del (p.Val710fs) rs118192244
NM_172107.4(KCNQ2):c.821C>T (p.Thr274Met) rs727503974
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_176824.3(BBS7):c.712_715del (p.Arg238fs) rs760165634
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_182476.3(COQ6):c.1237G>T (p.Glu413Ter) rs1594816203
NM_182760.4(SUMF1):c.542T>G (p.Leu181Ter) rs1553575867
NM_182961.4(SYNE1):c.12247C>T (p.Gln4083Ter) rs1590463470
NM_182961.4(SYNE1):c.15280del (p.Asp5094fs)
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.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_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_205861.3(DHDDS):c.113G>A (p.Arg38His) rs1570332505
NM_205861.3(DHDDS):c.632G>A (p.Arg211Gln) rs1553122926
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.