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COLO-783 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

1499 mutations reported
598 synonymous mutations reported
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External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
FLNBENSG00000136068ENST00000490882p.S2563Fc.7688C>TSubstitution - Missense
UMODL1ENSG00000177398ENST00000400424p.P449Lc.1346C>TSubstitution - Missense
CCDC159ENSG00000183401ENST00000458408p.P270Sc.808C>TSubstitution - Missense
SETD4ENSG00000185917ENST00000399215p.P56Sc.166C>TSubstitution - Missense
FBXO31ENSG00000103264ENST00000311635p.S505Fc.1514C>TSubstitution - Missense
MICAL3ENSG00000243156ENST00000441493p.V1184Vc.3552C>TSubstitution - coding silent
MICAL3ENSG00000243156ENST00000441493p.G388Ec.1163G>ASubstitution - Missense
ADAM18ENSG00000168619ENST00000265707p.?c.1327-8C>TUnknown
POLBENSG00000070501ENST00000265421p.R299Cc.895C>TSubstitution - Missense
FOSL2ENSG00000075426ENST00000264716p.S71Fc.212C>TSubstitution - Missense
ENST00000405167p.T2399Ic.7196C>TSubstitution - Missense
COL9A3ENSG00000092758ENST00000343916p.P162Sc.484C>TSubstitution - Missense
DYSFENSG00000135636ENST00000258104p.?c.1398-4C>TUnknown
FUT3ENSG00000171124ENST00000303225p.P183Sc.547C>TSubstitution - Missense
CACNA1FENSG00000102001ENST00000376265p.P1178Pc.3534G>ASubstitution - coding silent
ENST00000394167p.P357Pc.1071A>TSubstitution - coding silent
SP100ENSG00000067066ENST00000340126p.?c.2548-7T>CUnknown
PHLDB2ENSG00000144824ENST00000393923p.F559Fc.1677C>TSubstitution - coding silent
KIAA0141ENSG00000081791ENST00000194118p.L405Lc.1215G>TSubstitution - coding silent
PKHD1L1ENSG00000205038ENST00000378402p.V1707Vc.5121G>ASubstitution - coding silent
ABCA13ENSG00000179869ENST00000435803p.W4427*c.13281G>ASubstitution - Nonsense
PHLDB3ENSG00000176531ENST00000292140p.P492Sc.1474C>TSubstitution - Missense
SPTAN1ENSG00000197694ENST00000372739p.M541Vc.1621A>GSubstitution - Missense
OR8H2ENSG00000181767ENST00000313503p.S21Fc.62C>TSubstitution - Missense
SPOCK3ENSG00000196104ENST00000357154p.D242Nc.724G>ASubstitution - Missense
PTPRMENSG00000173482ENST00000400060p.?c.3465+7C>TUnknown
ENST00000257665_v70p.A959Ac.2877C>TSubstitution - coding silent
DUSP13ENSG00000079393ENST00000394707p.L17Lc.51G>ASubstitution - coding silent
LRP4ENSG00000134569ENST00000378623p.V1379Vc.4137C>TSubstitution - coding silent
INSRRENSG00000027644ENST00000368195p.G996Rc.2986G>ASubstitution - Missense
USH2AENSG00000042781ENST00000307340p.H728Yc.2182C>TSubstitution - Missense
TPP2ENSG00000134900ENST00000376065p.P84Lc.251C>TSubstitution - Missense
SCN8AENSG00000196876ENST00000354534p.A528Ac.1584C>TSubstitution - coding silent
GANABENSG00000089597ENST00000356638p.?c.560+6T>AUnknown
SPAG17ENSG00000155761ENST00000336338p.F1827Fc.5481C>TSubstitution - coding silent
CROCCENSG00000058453ENST00000375541p.T1757Tc.5271C>TSubstitution - coding silent
LUZP2ENSG00000187398ENST00000336930p.P5Sc.13C>TSubstitution - Missense
NFASCENSG00000163531ENST00000403080p.R260Cc.778C>TSubstitution - Missense
PITPNM2ENSG00000090975ENST00000320201p.P93Lc.278C>TSubstitution - Missense
CEP128ENSG00000100629ENST00000216517p.Q430*c.1288C>TSubstitution - Nonsense
HERC1ENSG00000103657ENST00000443617p.?c.8324-9C>TUnknown
CACNA1CENSG00000151067ENST00000347598p.S916Fc.2747C>TSubstitution - Missense
YY1AP1ENSG00000163374ENST00000368339p.P866Lc.2597C>TSubstitution - Missense
TTNENSG00000155657ENST00000360870p.?c.1245+10G>AUnknown
MUC16ENSG00000181143ENST00000397910p.S3920Lc.11759C>TSubstitution - Missense
FLNCENSG00000128591ENST00000325888p.P1102Sc.3304C>TSubstitution - Missense
TMEM35ENSG00000126950ENST00000372930p.I68Vc.202A>GSubstitution - Missense
NEFMENSG00000104722ENST00000221166p.E504Kc.1510G>ASubstitution - Missense
MGAMENSG00000257335ENST00000475668p.E1324Kc.3970G>ASubstitution - Missense
MGAMENSG00000257335ENST00000549489p.D1438Nc.4312G>ASubstitution - Missense
CCDC158ENSG00000163749ENST00000388914p.S933Fc.2798C>TSubstitution - Missense
ALG1ENSG00000033011ENST00000262374p.L273Lc.819C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342175p.R24888Wc.74662C>TSubstitution - Missense
LRRCC1ENSG00000133739ENST00000360375p.P354Sc.1060C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T2367Ic.7100C>TSubstitution - Missense
NLRC3ENSG00000167984ENST00000324659p.E242Kc.724G>ASubstitution - Missense
MYH1ENSG00000109061ENST00000226207p.?c.3984+9C>TUnknown
SCN10AENSG00000185313ENST00000449082p.E1389Kc.4165G>ASubstitution - Missense
SULT1C4ENSG00000198075ENST00000272452p.G24Rc.70G>ASubstitution - Missense
TRANK1ENSG00000168016ENST00000428977p.S2244*c.6731C>ASubstitution - Nonsense
SLC39A11ENSG00000133195ENST00000255559p.N198Dc.592A>GSubstitution - Missense
CDH5ENSG00000179776ENST00000341529p.?c.1217+10C>TUnknown
FOXP4ENSG00000137166ENST00000373063p.?c.658+10C>TUnknown
DMDENSG00000198947ENST00000378677p.G1610Ec.4829G>ASubstitution - Missense
PHLDB2ENSG00000144824ENST00000412622p.F532Fc.1596C>TSubstitution - coding silent
ARIH2OSENSG00000221883ENST00000408959p.E104Kc.310G>ASubstitution - Missense
PCDHGA2ENSG00000081853ENST00000394576p.S754Sc.2262C>TSubstitution - coding silent
MFSD7ENSG00000169026ENST00000322224p.P81Lc.242C>TSubstitution - Missense
RP1L1ENSG00000183638ENST00000382483p.T711Tc.2133C>TSubstitution - coding silent
ABCB11ENSG00000073734ENST00000263817p.?c.390-4G>AUnknown
KLHL6ENSG00000172578ENST00000341319p.E17Kc.49G>ASubstitution - Missense
USH2AENSG00000042781ENST00000366942p.H728Yc.2182C>TSubstitution - Missense
DCCENSG00000187323ENST00000412726p.R621Cc.1861C>TSubstitution - Missense
ARPP21ENSG00000172995ENST00000458225p.E74Kc.220G>ASubstitution - Missense
ANO5ENSG00000171714ENST00000324559p.V473Vc.1419C>TSubstitution - coding silent
OR10A7ENSG00000179919ENST00000326258p.I207Ic.621C>TSubstitution - coding silent
BCANENSG00000132692ENST00000329117p.T623Ic.1868C>TSubstitution - Missense
PSMB5ENSG00000100804ENST00000361611p.P12Pc.36G>ASubstitution - coding silent
OR4K1ENSG00000155249ENST00000285600p.L115Pc.344T>CSubstitution - Missense
OR11G2ENSG00000196832ENST00000357366p.P301Lc.902C>TSubstitution - Missense
KIAA1033ENSG00000136051ENST00000332180p.A1096delAc.3284_3286delCAGDeletion - In frame
ITGA8ENSG00000077943ENST00000378076p.?c.848-1G>TUnknown
ENTPD5ENSG00000187097ENST00000334696p.F268Fc.804C>TSubstitution - coding silent
THBS3ENSG00000169231ENST00000368378p.P282Lc.845C>TSubstitution - Missense
HS2ST1ENSG00000153936ENST00000370550p.Y352Yc.1056C>TSubstitution - coding silent
CLVS1ENSG00000177182ENST00000325897p.R133Qc.398G>ASubstitution - Missense
BCORL1ENSG00000085185ENST00000218147p.K1367*c.4099A>TSubstitution - Nonsense
GSE1ENSG00000131149ENST00000253458p.V625Mc.1873G>ASubstitution - Missense
TM2D1ENSG00000162604ENST00000371180p.G51Rc.151G>ASubstitution - Missense
PGS1ENSG00000087157ENST00000262764p.?c.334-10C>TUnknown
CCDC155ENSG00000161609ENST00000447857p.H300Qc.900C>ASubstitution - Missense
ZNF831ENSG00000124203ENST00000371030p.A209Ac.627C>TSubstitution - coding silent
LILRB4ENSG00000186818ENST00000391736p.D70Vc.209A>TSubstitution - Missense
CADM2ENSG00000175161ENST00000383699p.Q32Lc.95A>TSubstitution - Missense
EDEM1ENSG00000134109ENST00000256497p.R286Rc.858G>TSubstitution - coding silent
C2orf71ENSG00000179270ENST00000331664p.P1087Lc.3260C>TSubstitution - Missense
HHLA2ENSG00000114455ENST00000357759p.P398Sc.1192C>TSubstitution - Missense
TRMT44ENSG00000155275ENST00000389737p.A276Vc.827C>TSubstitution - Missense
PCDH18ENSG00000189184ENST00000344876p.P462Lc.1385C>TSubstitution - Missense
SLCO6A1ENSG00000205359ENST00000379807p.D562Nc.1684G>ASubstitution - Missense
ARPP21ENSG00000172995ENST00000187397p.V491Vc.1473G>ASubstitution - coding silent
RUFY4ENSG00000188282ENST00000374155p.T407Tc.1221C>TSubstitution - coding silent
YWHAGENSG00000170027ENST00000307630p.A206Ac.618C>TSubstitution - coding silent
AIM1ENSG00000112297ENST00000369066p.T670fs*6c.2008_2009insAInsertion - Frameshift
SPIN2AENSG00000147059ENST00000374908p.I249Ic.747C>TSubstitution - coding silent
APLP1ENSG00000105290ENST00000221891p.D87Dc.261C>TSubstitution - coding silent
HAUS5ENSG00000249115ENST00000203166p.P278Lc.833C>TSubstitution - Missense
ZNF275ENSG00000063587ENST00000440091p.Y33Nc.97T>ASubstitution - Missense
ZFR2ENSG00000105278ENST00000262961p.A609Ac.1827C>TSubstitution - coding silent
PCDHB16ENSG00000196963ENST00000361016p.A508Ac.1524A>CSubstitution - coding silent
NEBENSG00000183091ENST00000409198p.D3620Nc.10858G>ASubstitution - Missense
ENST00000400460p.T22Tc.66G>CSubstitution - coding silent
CEACAM7ENSG00000007306ENST00000006724p.G81Ec.242G>ASubstitution - Missense
ZNF75DENSG00000186376ENST00000370766p.P364Pc.1092T>CSubstitution - coding silent
MYO16ENSG00000041515ENST00000251041p.?c.551-7C>TUnknown
ADARENSG00000160710ENST00000292205p.F580Fc.1740C>TSubstitution - coding silent
SPOCK3ENSG00000196104ENST00000421836p.D191Nc.571G>ASubstitution - Missense
C6orf62ENSG00000112308ENST00000378102p.S48Fc.143C>TSubstitution - Missense
IMPG2ENSG00000081148ENST00000193391p.S839Lc.2516C>TSubstitution - Missense
PEAK1ENSG00000173517ENST00000312493p.S1095Lc.3284C>TSubstitution - Missense
PCDH17ENSG00000118946ENST00000377918p.S1093Fc.3278C>TSubstitution - Missense
FRMPD2ENSG00000170324ENST00000374201p.F393Fc.1179C>TSubstitution - coding silent
CRTAMENSG00000109943ENST00000227348p.F56Lc.166T>CSubstitution - Missense
CHD8ENSG00000100888ENST00000430710p.T1860Ic.5579C>TSubstitution - Missense
GCN1L1ENSG00000089154ENST00000300648p.S1501Fc.4502C>TSubstitution - Missense
OPTCENSG00000188770ENST00000367222p.S166Sc.498C>TSubstitution - coding silent
CACNA1CENSG00000151067ENST00000399634p.S916Fc.2747C>TSubstitution - Missense
CYP2J2ENSG00000134716ENST00000371204p.?c.374-3C>AUnknown
REREENSG00000142599ENST00000400908p.D517Nc.1549G>ASubstitution - Missense
NM_000828.2p.L583Lc.1749G>ASubstitution - coding silent
ENST00000446427p.?c.896-6C>TUnknown
HS3ST3A1ENSG00000153976ENST00000284110p.K368Kc.1104G>ASubstitution - coding silent
CNNM4ENSG00000158158ENST00000377075p.S566Ic.1697G>TSubstitution - Missense
KRTAP9-3ENSG00000204873ENST00000411528p.C144Cc.432T>CSubstitution - coding silent
TIAM1ENSG00000156299ENST00000286827p.L922Lc.2766C>TSubstitution - coding silent
EPPK1ENSG00000227184ENST00000525985p.A2344Tc.7030G>ASubstitution - Missense
ENST00000356127p.R31191Wc.93571C>TSubstitution - Missense
ARSGENSG00000141337ENST00000448504p.D44Nc.130G>ASubstitution - Missense
SEC24BENSG00000138802ENST00000399100p.E1204Ec.3612A>GSubstitution - coding silent
SPTBN1ENSG00000115306ENST00000356805p.N1221Sc.3662A>GSubstitution - Missense
CARD11ENSG00000198286ENST00000396946p.M8Ic.24G>ASubstitution - Missense
DPP10ENSG00000175497ENST00000410059p.N760Nc.2280C>TSubstitution - coding silent
MAGEB1ENSG00000214107ENST00000378981p.L159Lc.477C>TSubstitution - coding silent
MAP3K19ENSG00000176601ENST00000375845p.E64Ac.191A>CSubstitution - Missense
ZGLP1ENSG00000220201ENST00000403903p.E192Kc.574G>ASubstitution - Missense
CELSR3ENSG00000008300ENST00000164024p.P1306Lc.3917C>TSubstitution - Missense
CCT6BENSG00000132141ENST00000314144p.?c.1450+5G>AUnknown
PNMA5ENSG00000198883ENST00000361887p.L21Qc.62T>ASubstitution - Missense
SGSM1ENSG00000167037ENST00000400358p.?c.1771-7C>TUnknown
NQO1ENSG00000181019ENST00000320623p.P220Lc.659C>TSubstitution - Missense
ANO8ENSG00000074855ENST00000159087p.V388Mc.1162G>ASubstitution - Missense
ZSWIM6ENSG00000130449ENST00000252744p.P479Lc.1436C>TSubstitution - Missense
ENST00000339192p.I705Ic.2115C>TSubstitution - coding silent
MAGEA6ENSG00000197172ENST00000329342p.D187Nc.559G>ASubstitution - Missense
EPB41L3ENSG00000082397ENST00000341928p.A874Tc.2620G>ASubstitution - Missense
PCSK7ENSG00000160613ENST00000320934p.E685Ec.2055A>GSubstitution - coding silent
ANGPTL7ENSG00000171819ENST00000376819p.M337Ic.1011G>ASubstitution - Missense
TMC5ENSG00000103534ENST00000396229p.N24Nc.72C>TSubstitution - coding silent
CITENSG00000122966ENST00000261833p.P1255Sc.3763C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S1882Fc.5645C>TSubstitution - Missense
PELP1ENSG00000141456ENST00000301396p.S10Fc.29C>TSubstitution - Missense
TSHZ3ENSG00000121297ENST00000240587p.L564Lc.1692G>ASubstitution - coding silent
ZSWIM2ENSG00000163012ENST00000295131p.R91Rc.273G>ASubstitution - coding silent
KLHL13ENSG00000003096ENST00000262820p.D610Nc.1828G>ASubstitution - Missense
CDH17ENSG00000079112ENST00000027335p.R140Cc.418C>TSubstitution - Missense
TLK2ENSG00000146872ENST00000346027p.Q60*c.178C>TSubstitution - Nonsense
NM_003895.2p.?c.706-6C>TUnknown
NUP54ENSG00000138750ENST00000264883p.H384Yc.1150C>TSubstitution - Missense
NM_001002021.1p.S322Lc.965C>TSubstitution - Missense
PIK3R5ENSG00000141506ENST00000447110p.L214Lc.642G>ASubstitution - coding silent
MYO5BENSG00000167306ENST00000285039p.G1648Ec.4943G>ASubstitution - Missense
MGAMENSG00000257335ENST00000549489p.E1324Kc.3970G>ASubstitution - Missense
EPB41L3ENSG00000082397ENST00000341928p.S873Sc.2619G>ASubstitution - coding silent
CASD1ENSG00000127995ENST00000297273p.G610Ec.1829G>ASubstitution - Missense
MYH13ENSG00000006788ENST00000252172p.?c.4657-6C>TUnknown
ENST00000405167p.S3415Fc.10244C>TSubstitution - Missense
IFT80ENSG00000068885ENST00000326448p.A717Tc.2149G>ASubstitution - Missense
NM_001371.1p.G788Wc.2362G>TSubstitution - Missense
EIF2AK1ENSG00000086232ENST00000199389p.?c.1448-8A>TUnknown
CDIPTENSG00000103502ENST00000219789p.?c.333-6C>TUnknown
ADTRPENSG00000111863ENST00000379413p.H128Qc.384T>ASubstitution - Missense
PCDHGB4ENSG00000253953ENST00000519479p.S537Lc.1610C>TSubstitution - Missense
VOPP1ENSG00000154978ENST00000285279p.P44Sc.130C>TSubstitution - Missense
KYNUENSG00000115919ENST00000264170p.?c.508-9C>TUnknown
SEMG2ENSG00000124157ENST00000372769p.E414Vc.1241A>TSubstitution - Missense
ADAENSG00000196839ENST00000372874p.?c.845+10G>AUnknown
ARHGAP17ENSG00000140750ENST00000303665p.S161Sc.483C>GSubstitution - coding silent
LEPRENSG00000116678ENST00000371059p.L576*c.1727T>ASubstitution - Nonsense
TRIM21ENSG00000132109ENST00000543625p.E352Gc.1055A>GSubstitution - Missense
OR5F1ENSG00000149133ENST00000278409p.E296Kc.886G>ASubstitution - Missense
GRIA3ENSG00000125675ENST00000541091p.R317Qc.950G>ASubstitution - Missense
COL20A1ENSG00000101203ENST00000422202p.E931Ec.2793G>ASubstitution - coding silent
ATP13A1ENSG00000105726ENST00000291503p.L709Pc.2126T>CSubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.E4386Ec.13158A>GSubstitution - coding silent
WDFY3ENSG00000163625ENST00000295888p.R2193Hc.6578G>ASubstitution - Missense
OR10G8ENSG00000234560ENST00000431524p.I245Ic.735C>TSubstitution - coding silent
PSEN2ENSG00000143801ENST00000366783p.S419Fc.1256C>TSubstitution - Missense
DNAH14ENSG00000185842ENST00000430092p.I1353Vc.4057A>GSubstitution - Missense
ENST00000327303p.I6Ic.18C>TSubstitution - coding silent
LRRC4CENSG00000148948ENST00000278198p.D318fs*19c.951delADeletion - Frameshift
SNAP47ENSG00000143740ENST00000366759p.P130Pc.390A>TSubstitution - coding silent
ADCY4ENSG00000129467ENST00000310677p.S733Fc.2198C>TSubstitution - Missense
LIN7AENSG00000111052ENST00000552864p.R85Cc.253C>TSubstitution - Missense
UPF2ENSG00000151461ENST00000356352p.H825Yc.2473C>TSubstitution - Missense
CHD8ENSG00000100888ENST00000399982p.T2139Tc.6417C>TSubstitution - coding silent
KLRF1ENSG00000150045ENST00000279544p.G65Ec.194G>ASubstitution - Missense
GPR132ENSG00000183484ENST00000329797p.G367Rc.1099G>ASubstitution - Missense
NM_005933.1p.S1685Sc.5055C>TSubstitution - coding silent
GRIN2AENSG00000183454ENST00000396573p.P314Sc.940C>TSubstitution - Missense
MSI1ENSG00000135097ENST00000257552p.?c.790+3C>TUnknown
DVL1ENSG00000107404ENST00000378891p.N483Sc.1448A>GSubstitution - Missense
SLC39A12ENSG00000148482ENST00000377374p.E296Kc.886G>ASubstitution - Missense
CSNK1G1ENSG00000169118ENST00000303052p.S388Sc.1164C>TSubstitution - coding silent
STAT4ENSG00000138378ENST00000358470p.I247Ic.741C>TSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.D6117Nc.18349G>ASubstitution - Missense
DNAJC8ENSG00000126698ENST00000263697p.E200Kc.598G>ASubstitution - Missense
HTR2CENSG00000147246ENST00000371951p.?c.551-7C>TUnknown
MMP16ENSG00000156103ENST00000286614p.M469Ic.1407G>ASubstitution - Missense
UBE2HENSG00000186591ENST00000355621p.D100Gc.299A>GSubstitution - Missense
ENST00000349637p.E966Kc.2896G>ASubstitution - Missense
MOGAT2ENSG00000166391ENST00000198801p.S130Sc.390G>ASubstitution - coding silent
RYR2ENSG00000198626ENST00000366574p.?c.11245+9C>TUnknown
SYT12ENSG00000173227ENST00000393946p.?c.1092+6G>AUnknown
ECM1ENSG00000143369ENST00000369049p.P328Pc.984T>GSubstitution - coding silent
PRB2ENSG00000121335ENST00000389362p.G178Rc.532G>ASubstitution - Missense
PRKG1ENSG00000185532ENST00000401604p.I249Vc.745A>GSubstitution - Missense
POGZENSG00000143442ENST00000271715p.V1239Ac.3716T>CSubstitution - Missense
ZFP36L1ENSG00000185650ENST00000336440p.R159Pc.476G>CSubstitution - Missense
IL6RENSG00000160712ENST00000368485p.T329Tc.987C>TSubstitution - coding silent
BCL10ENSG00000142867ENST00000370580p.P224Lc.671C>TSubstitution - Missense
TTNENSG00000155657ENST00000360870p.S2559Sc.7677T>ASubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.K11508Kc.34524G>ASubstitution - coding silent
HOXB13ENSG00000159184ENST00000290295p.A108Tc.322G>ASubstitution - Missense
ENST00000317571_v68p.Q330Hc.990A>TSubstitution - Missense
C8orf47ENSG00000177459ENST00000318528p.?c.1013-4C>TUnknown
KPNA2ENSG00000182481ENST00000330459p.N346Ic.1037A>TSubstitution - Missense
FLNBENSG00000136068ENST00000295956p.S2532Fc.7595C>TSubstitution - Missense
TNFRSF10AENSG00000104689ENST00000221132p.?c.832-6C>TUnknown
NM_147171.1p.G1042Vc.3125G>TSubstitution - Missense
UGT2B28ENSG00000135226ENST00000335568p.M292Ic.876G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.R31193Wc.93577C>TSubstitution - Missense
KIR3DL1ENSG00000167633ENST00000402254p.?c.1158+7C>TUnknown
BRSK1ENSG00000160469ENST00000309383p.G204Gc.612G>ASubstitution - coding silent
AKAP9ENSG00000127914ENST00000356239p.G1030Vc.3089G>TSubstitution - Missense
NPBWR2ENSG00000125522ENST00000369768p.R328Hc.983G>ASubstitution - Missense
NM_206943.1p.P1497Pc.4491C>ASubstitution - coding silent
GMPPAENSG00000144591ENST00000341142p.P35Lc.104C>TSubstitution - Missense
F8ENSG00000185010ENST00000360256p.S693Lc.2078C>TSubstitution - Missense
SNX8ENSG00000106266ENST00000222990p.L276Lc.826C>TSubstitution - coding silent
CARD11ENSG00000198286ENST00000396946p.G526Rc.1576G>ASubstitution - Missense
NM_031288.1p.R306Lc.917G>TSubstitution - Missense
CPENSG00000047457ENST00000264613p.A406Ec.1217C>ASubstitution - Missense
PRR5ENSG00000186654ENST00000403581p.L122Fc.364C>TSubstitution - Missense
NM_181334.1p.L4Fc.10C>TSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.F932Cc.2795T>GSubstitution - Missense
ENST00000394831p.R16Cc.46C>TSubstitution - Missense
ROS1ENSG00000047936ENST00000368507p.P1005Tc.3013C>ASubstitution - Missense
CELSR3ENSG00000008300ENST00000164024p.P1306Pc.3918C>TSubstitution - coding silent
TANGO6ENSG00000103047ENST00000261778p.I110Ic.330C>TSubstitution - coding silent
LYZL6ENSG00000161572ENST00000293274p.L36Lc.108G>ASubstitution - coding silent
NF1ENSG00000196712ENST00000358273p.T2757fs*18c.8261_8285del25Deletion - Frameshift
WDR62ENSG00000075702ENST00000270301p.?c.2146+1G>AUnknown
KITENSG00000157404ENST00000288135p.T718Tc.2154T>GSubstitution - coding silent
TENM2ENSG00000145934ENST00000518659p.P1338Lc.4013C>TSubstitution - Missense
TATENSG00000198650ENST00000355962p.D389Nc.1165G>ASubstitution - Missense
KMT2CENSG00000055609ENST00000262189p.N543Dc.1627A>GSubstitution - Missense
OR5L1ENSG00000186117ENST00000333973p.F62Fc.186C>TSubstitution - coding silent
AMDHD2ENSG00000162066ENST00000413459p.P481Sc.1441C>TSubstitution - Missense
ENST00000263817_v70p.?c.390-4G>AUnknown
AGBL4ENSG00000186094ENST00000416121p.E190Ec.570G>ASubstitution - coding silent
CLEC3AENSG00000166509ENST00000299642p.D189Nc.565G>ASubstitution - Missense
KIAA1109ENSG00000138688ENST00000455637p.G3244Ec.9731G>ASubstitution - Missense
ENST00000359131p.P75Lc.224C>TSubstitution - Missense
ABCB5ENSG00000004846ENST00000258738p.R96*c.286C>TSubstitution - Nonsense
CYP26B1ENSG00000003137ENST00000001146p.R195Wc.583C>TSubstitution - Missense
DCCENSG00000187323ENST00000442544p.R773Cc.2317C>TSubstitution - Missense
OR51T1ENSG00000176900ENST00000380378p.Q25Qc.75A>GSubstitution - coding silent
C11orf94ENSG00000234776ENST00000449465p.S54Pc.160T>CSubstitution - Missense
AGLENSG00000162688ENST00000370163p.G1448Ec.4343G>ASubstitution - Missense
WDR93ENSG00000140527ENST00000268130p.?c.1123+7G>AUnknown
ENST00000458043_v65p.Q1818Qc.5454A>GSubstitution - coding silent
BAI2ENSG00000121753ENST00000373658p.R1035Cc.3103C>TSubstitution - Missense
FGF23ENSG00000118972ENST00000237837p.G37Dc.110G>ASubstitution - Missense
DFNB31ENSG00000095397ENST00000362057p.P629Pc.1887G>ASubstitution - coding silent
C9orf117ENSG00000160401ENST00000373295p.R198Rc.594G>ASubstitution - coding silent
MYO10ENSG00000145555ENST00000274203p.E29Kc.85G>ASubstitution - Missense
NFASCENSG00000163531ENST00000367172p.R260Cc.778C>TSubstitution - Missense
C14orf80ENSG00000185347ENST00000392523p.F58Fc.174C>TSubstitution - coding silent
ADAMTS20ENSG00000173157ENST00000553158p.P678Lc.2033C>TSubstitution - Missense
AGLENSG00000162688ENST00000361522p.G1431Ec.4292G>ASubstitution - Missense
SLC30A3ENSG00000115194ENST00000447008p.G84Gc.252G>ASubstitution - coding silent
DNAH17ENSG00000187775ENST00000389840p.F2350Fc.7050C>TSubstitution - coding silent
ENST00000312652p.?c.1250-10C>TUnknown
ANO4ENSG00000151572ENST00000392979p.F657Fc.1971C>TSubstitution - coding silent
PCLOENSG00000186472ENST00000423517p.F932Cc.2795T>GSubstitution - Missense
LAMB3ENSG00000196878ENST00000367030p.A10Ac.30C>TSubstitution - coding silent
TAS2R8ENSG00000121314ENST00000240615p.P278Lc.833C>TSubstitution - Missense
TGFB2ENSG00000092969ENST00000366930p.G196Dc.587G>ASubstitution - Missense
KRT86ENSG00000170442ENST00000293525p.?c.640-9C>TUnknown
CREB3L1ENSG00000157613ENST00000529193p.Y415Yc.1245C>TSubstitution - coding silent
INSRRENSG00000027644ENST00000368195p.G996Rc.2986G>ASubstitution - Missense
DGKZENSG00000149091ENST00000395574p.E194Kc.580G>ASubstitution - Missense
GANABENSG00000089597ENST00000346178p.?c.560+6T>AUnknown
CYP2E1ENSG00000130649ENST00000252945p.E356Kc.1066G>ASubstitution - Missense
OR5P2ENSG00000183303ENST00000329434p.V106Vc.318C>TSubstitution - coding silent
KCNQ4ENSG00000117013ENST00000347132p.I372Ic.1116C>ASubstitution - coding silent
CPSF3LENSG00000127054ENST00000435064p.A190Ac.570C>TSubstitution - coding silent
APOC3ENSG00000110245ENST00000227667p.D72Nc.214G>ASubstitution - Missense
HIPK3ENSG00000110422ENST00000303296p.Q673Qc.2019G>ASubstitution - coding silent
RHPN2ENSG00000131941ENST00000400226p.I280Mc.840T>GSubstitution - Missense
HERC1ENSG00000103657ENST00000443617p.?c.8324-9C>TUnknown
TRPV2ENSG00000187688ENST00000338560p.V730Vc.2190C>TSubstitution - coding silent
GUCY2FENSG00000101890ENST00000218006p.S141Rc.423C>GSubstitution - Missense
ITGAVENSG00000138448ENST00000261023p.L200Fc.598C>TSubstitution - Missense
GRM8ENSG00000179603ENST00000405249p.I209Ic.627C>TSubstitution - coding silent
RNF213ENSG00000173821ENST00000319921p.D813Nc.2437G>ASubstitution - Missense
CA3ENSG00000164879ENST00000285381p.H103Yc.307C>TSubstitution - Missense
PCM1ENSG00000078674ENST00000325083p.M1612Ic.4836G>ASubstitution - Missense
MGAMENSG00000257335ENST00000549489p.G1014Ec.3041G>ASubstitution - Missense
NM_022740p.T1022Nc.3065C>ASubstitution - Missense
CTLA4ENSG00000163599ENST00000302823p.S107Sc.321C>TSubstitution - coding silent
CECR2ENSG00000099954ENST00000262608p.G854Vc.2561G>TSubstitution - Missense
SAMD9ENSG00000205413ENST00000379958p.K350Kc.1050G>ASubstitution - coding silent
ARHGEF38ENSG00000236699ENST00000420470p.E2Kc.4G>ASubstitution - Missense
ARHGEF38ENSG00000236699ENST00000265154p.E2Kc.4G>ASubstitution - Missense
COL20A1ENSG00000101203ENST00000358894p.E924Ec.2772G>ASubstitution - coding silent
SUCNR1ENSG00000198829ENST00000362032p.L39Fc.115C>TSubstitution - Missense
RGPD4ENSG00000196862ENST00000408999p.?c.4925-7G>CUnknown
NLRP8ENSG00000179709ENST00000291971p.S35Sc.105C>TSubstitution - coding silent
ABCA2ENSG00000107331ENST00000341511p.L131Lc.393C>TSubstitution - coding silent
PARP15ENSG00000173200ENST00000464300p.E229Kc.685G>ASubstitution - Missense
DNAH8ENSG00000124721ENST00000359357p.G788Wc.2362G>TSubstitution - Missense
XPNPEP3ENSG00000196236ENST00000357137p.P51Sc.151C>TSubstitution - Missense
PKHD1L1ENSG00000205038ENST00000378402p.G2288Ec.6863G>ASubstitution - Missense
PCDHGB4ENSG00000253953ENST00000519479p.S721Sc.2163C>TSubstitution - coding silent
SLC4A9ENSG00000113073ENST00000506757p.A951Tc.2851G>ASubstitution - Missense
PCDHGA1ENSG00000204956ENST00000378105p.V288Lc.862G>TSubstitution - Missense
CHD6ENSG00000124177ENST00000373233p.E1127Kc.3379G>ASubstitution - Missense
BZW2ENSG00000136261ENST00000258761p.Q268Rc.803A>GSubstitution - Missense
SLC2A11ENSG00000133460ENST00000398356p.F372Sc.1115T>CSubstitution - Missense
OR14A2ENSG00000241128ENST00000366485p.F60Fc.180C>TSubstitution - coding silent
ENST00000330241p.G128Ec.383G>ASubstitution - Missense
DGKZENSG00000149091ENST00000454345p.E416Kc.1246G>ASubstitution - Missense
TEX11ENSG00000120498ENST00000395889p.?c.290-4G>CUnknown
CSMD1ENSG00000183117ENST00000539096p.P1747Lc.5240C>TSubstitution - Missense
RAP1GAPENSG00000076864ENST00000374765p.P151Sc.451C>TSubstitution - Missense
ENST00000374757p.P293Sc.877C>TSubstitution - Missense
NM_003319p.S2513Sc.7539T>ASubstitution - coding silent
ENAMENSG00000132464ENST00000396073p.I928Ic.2784C>TSubstitution - coding silent
MC2RENSG00000185231ENST00000399821p.T209Tc.627C>TSubstitution - coding silent
MYH1ENSG00000109061ENST00000226207p.A1027Dc.3080C>ASubstitution - Missense
EMILIN1ENSG00000138080ENST00000380320p.T886Tc.2658G>ASubstitution - coding silent
TRMT44ENSG00000155275ENST00000513449p.A35Vc.104C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.P3106Lc.9317C>TSubstitution - Missense
NHSL1ENSG00000135540ENST00000342260p.R686Cc.2056C>TSubstitution - Missense
INO80BENSG00000115274ENST00000233331p.R319Lc.956G>TSubstitution - Missense
SP140LENSG00000185404ENST00000415673p.?c.107+3G>AUnknown
PTCHD1ENSG00000165186ENST00000379361p.S645Yc.1934C>ASubstitution - Missense
ZNF493ENSG00000196268ENST00000355504p.S109Tc.325T>ASubstitution - Missense
TRHENSG00000170893ENST00000302649p.A9Tc.25G>ASubstitution - Missense
NF1ENSG00000196712ENST00000358273p.T2757fs*18c.8261_8285del25Deletion - Frameshift
THADAENSG00000115970ENST00000405975p.R121Hc.362G>ASubstitution - Missense
ENST00000230993_v65p.A975Tc.2923G>ASubstitution - Missense
CAMK2BENSG00000058404ENST00000395749p.P234Lc.701C>TSubstitution - Missense
STAP1ENSG00000035720ENST00000396225p.G262Rc.784G>ASubstitution - Missense
JPH2ENSG00000149596ENST00000372980p.P672Pc.2016C>TSubstitution - coding silent
CPN2ENSG00000178772ENST00000323830p.R475Wc.1423A>TSubstitution - Missense
NR4A2ENSG00000153234ENST00000539077p.S199Fc.596C>TSubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.I2787Ic.8361T>CSubstitution - coding silent
NFASCENSG00000163531ENST00000367172p.I799Ic.2397C>TSubstitution - coding silent
SNAP47ENSG00000143740ENST00000315781p.P130Pc.390A>TSubstitution - coding silent
EPB41L3ENSG00000082397ENST00000544123p.A705Tc.2113G>ASubstitution - Missense
KIRREL3ENSG00000149571ENST00000525144p.G684Sc.2050G>ASubstitution - Missense
SMAD9ENSG00000120693ENST00000379826p.H105Yc.313C>TSubstitution - Missense
OR5B12ENSG00000172362ENST00000302572p.F176Fc.528C>TSubstitution - coding silent
POU2F1ENSG00000143190ENST00000367866p.G341Ec.1022G>ASubstitution - Missense
KCNT2ENSG00000162687ENST00000294725p.F888Fc.2664T>CSubstitution - coding silent
MYO3AENSG00000095777ENST00000265944p.Q1242*c.3724C>TSubstitution - Nonsense
FAM171A1ENSG00000148468ENST00000378116p.L788Lc.2364C>TSubstitution - coding silent
ENST00000392849p.P450Lc.1349C>TSubstitution - Missense
KMT2AENSG00000118058ENST00000534358p.S1688Sc.5064C>TSubstitution - coding silent
ADAM10ENSG00000137845ENST00000260408p.R438Kc.1313G>ASubstitution - Missense
UNC79ENSG00000133958ENST00000553484p.S884Nc.2651G>ASubstitution - Missense
NM_003319p.?c.1245+10G>AUnknown
PIKFYVEENSG00000115020ENST00000264380p.F1062Fc.3186C>TSubstitution - coding silent
ARID3AENSG00000116017ENST00000263620p.P547Lc.1640C>TSubstitution - Missense
CPS1ENSG00000021826ENST00000430249p.L396Lc.1186C>TSubstitution - coding silent
GSE1ENSG00000131149ENST00000253458p.K624Kc.1872G>ASubstitution - coding silent
PTPRZ1ENSG00000106278ENST00000393386p.E304Kc.910G>ASubstitution - Missense
TMEM235ENSG00000204278ENST00000551068p.G114Sc.340G>ASubstitution - Missense
ENST00000545858p.P27Lc.80C>TSubstitution - Missense
ENST00000425519p.W237fs*5c.709delTDeletion - Frameshift
CSMD1ENSG00000183117ENST00000537824p.W2203*c.6609G>ASubstitution - Nonsense
C6orf62ENSG00000112308ENST00000378119p.S77Fc.230C>TSubstitution - Missense
SYNJ1ENSG00000159082ENST00000433931p.?c.823-6C>TUnknown
PCNTENSG00000160299ENST00000359568p.E1791Kc.5371G>ASubstitution - Missense
MGAMENSG00000257335ENST00000475668p.G1014Ec.3041G>ASubstitution - Missense
DEKENSG00000124795ENST00000397239p.M1Ic.3G>ASubstitution - Missense
ENST00000398685p.F380Fc.1140C>TSubstitution - coding silent
ENST00000328644p.E78Kc.232G>ASubstitution - Missense
CACNA1FENSG00000102001ENST00000376265p.E1387Ec.4161G>ASubstitution - coding silent
DMDENSG00000198947ENST00000378677p.G1610Ec.4829G>ASubstitution - Missense
AUTS2ENSG00000158321ENST00000342771p.I289Ic.867C>TSubstitution - coding silent
CHPFENSG00000123989ENST00000243776p.K603Kc.1809G>ASubstitution - coding silent
THSD7BENSG00000144229ENST00000413152p.P1086Sc.3256C>TSubstitution - Missense
FUT9ENSG00000172461ENST00000302103p.T76Tc.228C>TSubstitution - coding silent
TNIKENSG00000154310ENST00000436636p.E911Ec.2733G>ASubstitution - coding silent
ADAMTSL2ENSG00000197859ENST00000354484p.H547Hc.1641C>TSubstitution - coding silent
ITGA2BENSG00000005961ENST00000377068p.H174Hc.522C>TSubstitution - coding silent
EPHA1ENSG00000146904ENST00000275815p.E706Kc.2116G>ASubstitution - Missense
PCDHAC1ENSG00000248383ENST00000253807p.S692Fc.2075C>TSubstitution - Missense
ZNF462ENSG00000148143ENST00000457913p.L2060Lc.6178C>TSubstitution - coding silent
SLC6A7ENSG00000011083ENST00000230671p.L395Lc.1185C>TSubstitution - coding silent
TENM2ENSG00000145934ENST00000519204p.P1217Lc.3650C>TSubstitution - Missense
ENST00000316490p.?c.10945-1G>AUnknown
NT5EENSG00000135318ENST00000257770p.S269Fc.806C>TSubstitution - Missense
KMT2CENSG00000055609ENST00000355193p.N543Dc.1627A>GSubstitution - Missense
MEGF8ENSG00000105429ENST00000334370p.?c.5858-8A>CUnknown
KYNUENSG00000115919ENST00000264170p.D53Nc.157G>ASubstitution - Missense
PI3ENSG00000124102ENST00000243924p.F114Fc.342C>TSubstitution - coding silent
TRIM32ENSG00000119401ENST00000450136p.E214Dc.642G>TSubstitution - Missense
FKBP15ENSG00000119321ENST00000414250p.A317Vc.950C>TSubstitution - Missense
PAPPA2ENSG00000116183ENST00000367662p.R891Cc.2671C>TSubstitution - Missense
PCLOENSG00000186472ENST00000423517p.?c.13764-4T>AUnknown
SMYD1ENSG00000115593ENST00000419482p.E300Kc.898G>ASubstitution - Missense
PIK3C2GENSG00000139144ENST00000433979p.D890Nc.2668G>ASubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.V6499Mc.19495G>ASubstitution - Missense
CDK8ENSG00000132964ENST00000381527p.R125Rc.375G>ASubstitution - coding silent
IFT43ENSG00000119650ENST00000314067p.?c.296-8C>TUnknown
ENST00000426033p.P2306Sc.6916C>TSubstitution - Missense
YY1AP1ENSG00000163374ENST00000295566p.P774Sc.2320C>TSubstitution - Missense
LEPRENSG00000116678ENST00000349533p.L576*c.1727T>ASubstitution - Nonsense
IQCHENSG00000103599ENST00000335894p.F103Fc.309C>TSubstitution - coding silent
ENST00000300671p.F2359Fc.7077C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342175p.?c.1245+10G>AUnknown
CACNA1AENSG00000141837ENST00000360228p.E1031Ec.3093G>ASubstitution - coding silent
GPS1ENSG00000169727ENST00000355130p.G190Gc.570C>TSubstitution - coding silent
ENST00000411702p.D862Nc.2584G>ASubstitution - Missense
PSMD12ENSG00000197170ENST00000356126p.F415Fc.1245C>TSubstitution - coding silent
NM_032546.2p.?c.945-10G>AUnknown
MYH8ENSG00000133020ENST00000403437p.N1728Tc.5183A>CSubstitution - Missense
SAFB2ENSG00000130254ENST00000252542p.M866Ic.2598G>ASubstitution - Missense
GCKRENSG00000084734ENST00000264717p.?c.1339-4C>TUnknown
ABCB1ENSG00000085563ENST00000265724p.?c.999+8G>AUnknown
ZNF502ENSG00000196653ENST00000296091p.G179Ec.536G>ASubstitution - Missense
FREM3ENSG00000183090ENST00000329798p.F1822Fc.5466C>TSubstitution - coding silent
PPP5CENSG00000011485ENST00000012443p.A431Ac.1293C>TSubstitution - coding silent
SERPINB2ENSG00000197632ENST00000299502p.L10Fc.28C>TSubstitution - Missense
MED22ENSG00000148297ENST00000343730p.S28Sc.84C>TSubstitution - coding silent
ENST00000316490p.R1357Rc.4071G>ASubstitution - coding silent
GRIA1ENSG00000155511ENST00000285900p.S530Sc.1590C>TSubstitution - coding silent
NM_139285.1p.P488Rc.1463C>GSubstitution - Missense
LPHN3ENSG00000150471ENST00000512091p.T829Ic.2486C>TSubstitution - Missense
PITRM1ENSG00000107959ENST00000224949p.S235Sc.705C>TSubstitution - coding silent
MYOFENSG00000138119ENST00000371501p.R781Rc.2343G>ASubstitution - coding silent
ABCA12ENSG00000144452ENST00000389661p.T676Tc.2028C>TSubstitution - coding silent
ATP12AENSG00000075673ENST00000218548p.S800Sc.2400C>TSubstitution - coding silent
TRIM6ENSG00000121236ENST00000380097p.R460Rc.1380T>CSubstitution - coding silent
EIF2AK1ENSG00000086232ENST00000536084p.?c.1076-8A>TUnknown
CELA3BENSG00000219073ENST00000337107p.P152Sc.454C>TSubstitution - Missense
RBM26ENSG00000139746ENST00000267229p.I6Ic.18C>TSubstitution - coding silent
ARF1ENSG00000143761ENST00000272102p.A6Ac.18C>TSubstitution - coding silent
CSENSG00000062485ENST00000351328p.?c.789-8C>TUnknown
CHRNA3ENSG00000080644ENST00000326828p.D130Nc.388G>ASubstitution - Missense
DDX25ENSG00000109832ENST00000263576p.S271Sc.813C>TSubstitution - coding silent
SYT12ENSG00000173227ENST00000393946p.?c.1092+5G>AUnknown
ENST00000359455p.M8Tc.23T>CSubstitution - Missense
UNC13CENSG00000137766ENST00000260323p.R1039Cc.3115C>TSubstitution - Missense
NOX4ENSG00000086991ENST00000263317p.Y294fs*19c.880_889del10Deletion - Frameshift
NFASCENSG00000163531ENST00000360049p.R271Cc.811C>TSubstitution - Missense
ENST00000360901p.F60Fc.180C>TSubstitution - coding silent
PODNENSG00000174348ENST00000312553p.?c.457-7C>TUnknown
LYSMD4ENSG00000183060ENST00000378904p.G117Rc.349G>ASubstitution - Missense
CHST8ENSG00000124302ENST00000262622p.R386Tc.1157G>CSubstitution - Missense
TMEM235ENSG00000204278ENST00000374946p.G87Sc.259G>ASubstitution - Missense
DPF3ENSG00000205683ENST00000541685p.R342Rc.1026C>ASubstitution - coding silent
TMC5ENSG00000103534ENST00000396229p.E189Kc.565G>ASubstitution - Missense
CACNA1CENSG00000151067ENST00000399617p.S916Fc.2747C>TSubstitution - Missense
SYTL2ENSG00000137501ENST00000359152p.K433Rc.1298A>GSubstitution - Missense
DENND4AENSG00000174485ENST00000431932p.P757Sc.2269C>TSubstitution - Missense
ZDHHC9ENSG00000188706ENST00000357166p.R298*c.892C>TSubstitution - Nonsense
KLHL13ENSG00000003096ENST00000262820p.Y560Sc.1679A>CSubstitution - Missense
LEPRENSG00000116678ENST00000371060p.L576*c.1727T>ASubstitution - Nonsense
ENST00000456564p.S60Fc.179C>TSubstitution - Missense
ENST00000354485p.I412Ic.1236C>TSubstitution - coding silent
ENST00000427879p.P385Sc.1153C>TSubstitution - Missense
MYO5BENSG00000167306ENST00000285039p.A828Dc.2483C>ASubstitution - Missense
DEFB119ENSG00000180483ENST00000339144p.M41Ic.123G>ASubstitution - Missense
ENSG00000257743ENST00000477922p.L1404Wc.4211T>GSubstitution - Missense
MYH1ENSG00000109061ENST00000226207p.?c.3984+8C>TUnknown
ENST00000359131p.S51Fc.152C>TSubstitution - Missense
SLC9A4ENSG00000180251ENST00000295269p.G670Ec.2009G>ASubstitution - Missense
DNAH11ENSG00000105877ENST00000328843p.H665Yc.1993C>TSubstitution - Missense
UGGT1ENSG00000136731ENST00000259253p.I659Ic.1977C>TSubstitution - coding silent
CDKN2AENSG00000147889ENST00000446177p.P48Lc.143C>TSubstitution - Missense
SUGP1ENSG00000105705ENST00000247001p.P301Pc.903C>TSubstitution - coding silent
FBXL5ENSG00000118564ENST00000341285p.A118Tc.352G>ASubstitution - Missense
GUCY1A3ENSG00000164116ENST00000296518p.L308Lc.924G>ASubstitution - coding silent
XPNPEP3ENSG00000196236ENST00000357137p.S50Sc.150C>TSubstitution - coding silent
GRIA1ENSG00000155511ENST00000285900p.S530Fc.1589C>TSubstitution - Missense
ENST00000316490p.H2122Hc.6366C>TSubstitution - coding silent
ENST00000319379p.W4372*c.13116G>ASubstitution - Nonsense
NEBENSG00000183091ENST00000427231p.D3863Nc.11587G>ASubstitution - Missense
KCNT2ENSG00000162687ENST00000367431p.G106Sc.316G>ASubstitution - Missense
GRIK3ENSG00000163873ENST00000373093p.K720Kc.2160G>ASubstitution - coding silent
FOLH1ENSG00000086205ENST00000256999p.R580Qc.1739G>ASubstitution - Missense
PSEN2ENSG00000143801ENST00000391872p.S452Fc.1355C>TSubstitution - Missense
GRIA3ENSG00000125675ENST00000541091p.L567Lc.1701G>ASubstitution - coding silent
AGBL1ENSG00000166748ENST00000441037p.L392Lc.1174C>TSubstitution - coding silent
OR6C6ENSG00000188324ENST00000358433p.S237Fc.710C>TSubstitution - Missense
TGFB2ENSG00000092969ENST00000366929p.G224Dc.671G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.E11979Kc.35935G>ASubstitution - Missense
BLNKENSG00000095585ENST00000427367p.?c.1146+8C>TUnknown
GPR132ENSG00000183484ENST00000329797p.R224Kc.671G>ASubstitution - Missense
OR52E8ENSG00000183269ENST00000537935p.I146Vc.436A>GSubstitution - Missense
PAK1ENSG00000149269ENST00000356341p.P73Lc.218C>TSubstitution - Missense
PPIP5K1ENSG00000168781ENST00000420765p.E1430Dc.4290G>TSubstitution - Missense
NFASCENSG00000163531ENST00000339876p.I799Ic.2397C>TSubstitution - coding silent
CACNA1CENSG00000151067ENST00000399634p.?c.2224+1G>AUnknown
CDKN1BENSG00000111276ENST00000228872p.E14fs*109c.39_43delGGAGCDeletion - Frameshift
CACNA1EENSG00000198216ENST00000367573p.?c.1172-7C>TUnknown
SLC45A1ENSG00000162426ENST00000289877p.K491Kc.1473G>ASubstitution - coding silent
DPYDENSG00000188641ENST00000370192p.G862Gc.2586G>ASubstitution - coding silent
UNC79ENSG00000133958ENST00000256339p.S707Nc.2120G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.S2513Sc.7539T>ASubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.S3920Lc.11759C>TSubstitution - Missense
CISHENSG00000114737ENST00000443053p.D194Nc.580G>ASubstitution - Missense
TTC39CENSG00000168234ENST00000304621p.Q269Hc.807A>TSubstitution - Missense
RTN4RENSG00000040608ENST00000043402p.P365Lc.1094C>TSubstitution - Missense
HHLA2ENSG00000114455ENST00000357759p.P398Sc.1192C>TSubstitution - Missense
OR5H2ENSG00000197938ENST00000355273p.R127Cc.379C>TSubstitution - Missense
DYSFENSG00000135636ENST00000258104p.G1781Gc.5343G>TSubstitution - coding silent
NHSL1ENSG00000135540ENST00000343505p.R682Cc.2044C>TSubstitution - Missense
DUS3LENSG00000141994ENST00000309061p.P284Lc.851C>TSubstitution - Missense
ENST00000344062p.G153Ec.458G>ASubstitution - Missense
STK31ENSG00000196335ENST00000355870p.R1011Kc.3032G>ASubstitution - Missense
ADCY2ENSG00000078295ENST00000537121p.?c.330-6C>TUnknown
MED22ENSG00000148297ENST00000344469p.S28Sc.84C>TSubstitution - coding silent
SCPEP1ENSG00000121064ENST00000262288p.A240Ac.720C>TSubstitution - coding silent
USH2AENSG00000042781ENST00000366943p.L2892Fc.8674C>TSubstitution - Missense
ZSWIM6ENSG00000130449ENST00000252744p.P479Sc.1435C>TSubstitution - Missense
RAP1GAPENSG00000076864ENST00000542643p.P151Sc.451C>TSubstitution - Missense
TENM1ENSG00000009694ENST00000422452p.?c.2078-7C>TUnknown
EPB41L3ENSG00000082397ENST00000542146p.A179Tc.535G>ASubstitution - Missense
ABCB5ENSG00000004846ENST00000404938p.R541*c.1621C>TSubstitution - Nonsense
LRP1ENSG00000123384ENST00000243077p.F2337Fc.7011C>TSubstitution - coding silent
OR6N2ENSG00000188340ENST00000339258p.E173Kc.517G>ASubstitution - Missense
PHRF1ENSG00000070047ENST00000416188p.E1265Qc.3793G>CSubstitution - Missense
AMER2ENSG00000165566ENST00000515384p.G571Ec.1712G>ASubstitution - Missense
CITENSG00000122966ENST00000392521p.P1297Sc.3889C>TSubstitution - Missense
ENST00000298047_v61p.V4281Vc.12843C>TSubstitution - coding silent
TOR3AENSG00000186283ENST00000367627p.H301Qc.903C>GSubstitution - Missense
MRGPRX1ENSG00000170255ENST00000302797p.L149Mc.445C>ASubstitution - Missense
TP53ENSG00000141510ENST00000269305p.P27Lc.80C>TSubstitution - Missense
TP53ENSG00000141510ENST00000413465p.P27Lc.80C>TSubstitution - Missense
BCORL1ENSG00000085185ENST00000218147p.Q1366Qc.4098G>ASubstitution - coding silent
ENST00000331986p.E5541Kc.16621G>ASubstitution - Missense
ZDBF2ENSG00000204186ENST00000374423p.R2085Mc.6254G>TSubstitution - Missense
TLK2ENSG00000146872ENST00000346027p.Q60*c.178C>TSubstitution - Nonsense
ZNF441ENSG00000197044ENST00000357901p.W18*c.54G>ASubstitution - Nonsense
ENST00000377689p.P170Sc.508C>TSubstitution - Missense
RIPK4ENSG00000183421ENST00000352483p.P252Sc.754C>TSubstitution - Missense
TRPM2ENSG00000142185ENST00000397928p.L626Fc.1876C>TSubstitution - Missense
IP6K1ENSG00000176095ENST00000321599p.A93Ac.279C>TSubstitution - coding silent
LRRCC1ENSG00000133739ENST00000414626p.P334Sc.1000C>TSubstitution - Missense
NRG1ENSG00000157168ENST00000356819p.G119Ec.356G>ASubstitution - Missense
KLHL8ENSG00000145332ENST00000273963p.L147Lc.439C>TSubstitution - coding silent
CSMD1ENSG00000183117ENST00000537824p.P1747Lc.5240C>TSubstitution - Missense
ARHGAP24ENSG00000138639ENST00000395184p.P370Lc.1109C>TSubstitution - Missense
DMDENSG00000198947ENST00000357033p.G1614Ec.4841G>ASubstitution - Missense
KIAA1324LENSG00000164659ENST00000297222p.Y471Nc.1411T>ASubstitution - Missense
ZDHHC1ENSG00000159714ENST00000348579p.S185Sc.555C>TSubstitution - coding silent
POM121CENSG00000135213ENST00000453279p.A717Ac.2151C>TSubstitution - coding silent
PRR5ENSG00000186654ENST00000432186p.L90Fc.268C>TSubstitution - Missense
B3GNT3ENSG00000179913ENST00000318683p.F346Fc.1038C>TSubstitution - coding silent
GAP43ENSG00000172020ENST00000393780p.P253Lc.758C>TSubstitution - Missense
BAI3ENSG00000135298ENST00000370598p.L1074Lc.3222C>TSubstitution - coding silent
DNAH5ENSG00000039139ENST00000265104p.T4593Tc.13779G>ASubstitution - coding silent
CCR1ENSG00000163823ENST00000296140p.S42Sc.126C>TSubstitution - coding silent
ADCY2ENSG00000078295ENST00000338316p.?c.870-6C>TUnknown
DCLK2ENSG00000170390ENST00000296550p.P325Lc.974C>TSubstitution - Missense
MYO6ENSG00000196586ENST00000369977p.L168Lc.502C>TSubstitution - coding silent
SLC26A4ENSG00000091137ENST00000265715p.S399Fc.1196C>TSubstitution - Missense
RRM2BENSG00000048392ENST00000251810p.F323Fc.969C>TSubstitution - coding silent
ENST00000285279_v68p.R82Wc.244C>TSubstitution - Missense
CNGA2ENSG00000183862ENST00000329903p.R575Lc.1724G>TSubstitution - Missense
PPP2R2CENSG00000074211ENST00000335585p.?c.791-6C>TUnknown
ADTRPENSG00000111863ENST00000229583p.H146Qc.438T>ASubstitution - Missense
KLHL13ENSG00000003096ENST00000539496p.D613Nc.1837G>ASubstitution - Missense
GRIA3ENSG00000125675ENST00000371256p.R333Qc.998G>ASubstitution - Missense
KALRNENSG00000160145ENST00000240874p.Y1174Cc.3521A>GSubstitution - Missense
NM_133170.2p.E1447Kc.4339G>ASubstitution - Missense
ENST00000368148p.F525Lc.1573T>CSubstitution - Missense
ENST00000356369p.L53Lc.159G>ASubstitution - coding silent
LIPFENSG00000182333ENST00000394375p.S38Nc.113G>ASubstitution - Missense
LIPFENSG00000182333ENST00000238983p.S28Nc.83G>ASubstitution - Missense
SLC5A8ENSG00000256870ENST00000536262p.G421Sc.1261G>ASubstitution - Missense
CPT1AENSG00000110090ENST00000265641p.T564Tc.1692G>CSubstitution - coding silent
PSMB5ENSG00000100804ENST00000493471p.P12Pc.36G>ASubstitution - coding silent
GPR132ENSG00000183484ENST00000329797p.A354Tc.1060G>ASubstitution - Missense
NM_182557.1p.P450Lc.1349C>TSubstitution - Missense
ABCC8ENSG00000006071ENST00000389817p.R657Wc.1969C>TSubstitution - Missense
DHX37ENSG00000150990ENST00000308736p.D570Dc.1710C>TSubstitution - coding silent
APOBEC3BENSG00000179750ENST00000333467p.F71Fc.213C>TSubstitution - coding silent
SLC25A48ENSG00000145832ENST00000420621p.P286Sc.856C>TSubstitution - Missense
ANO10ENSG00000160746ENST00000292246p.P144Sc.430C>TSubstitution - Missense
DBHENSG00000123454ENST00000393056p.G459Ec.1376G>ASubstitution - Missense
WDR49ENSG00000174776ENST00000308378p.G388Ec.1163G>ASubstitution - Missense
WDR62ENSG00000075702ENST00000270301p.E716Kc.2146G>ASubstitution - Missense
LPHN3ENSG00000150471ENST00000512091p.T829Ic.2486C>TSubstitution - Missense
ENST00000388903p.P1171Lc.3512C>TSubstitution - Missense
VOPP1ENSG00000154978ENST00000285279p.P44Lc.131C>TSubstitution - Missense
ENST00000285279_v68p.I81Ic.243C>TSubstitution - coding silent
GIMAP1ENSG00000213203ENST00000307194p.E141Ec.423G>ASubstitution - coding silent
NM_144685p.F248Fc.744C>TSubstitution - coding silent
SCNN1GENSG00000166828ENST00000300061p.R270Rc.810G>ASubstitution - coding silent
SCNN1GENSG00000166828ENST00000300061p.?c.1177-7C>TUnknown
ENST00000406302p.P435Sc.1303C>TSubstitution - Missense
CACNA1EENSG00000198216ENST00000357570p.?c.1025-7C>TUnknown
PCLOENSG00000186472ENST00000333891p.M5107Ic.15321G>ASubstitution - Missense
MIER2ENSG00000105556ENST00000264819p.P366Sc.1096C>TSubstitution - Missense
MAKENSG00000111837ENST00000313243p.R582Qc.1745G>ASubstitution - Missense
CDH8ENSG00000150394ENST00000577390p.P388Lc.1163C>TSubstitution - Missense
SLC16A7ENSG00000118596ENST00000261187p.F291Fc.873C>TSubstitution - coding silent
MARCH5ENSG00000198060ENST00000358935p.A220Ac.660T>CSubstitution - coding silent
ARHGEF25ENSG00000240771ENST00000333972p.E61Kc.181G>ASubstitution - Missense
TMEM52BENSG00000165685ENST00000381923p.H33Nc.97C>ASubstitution - Missense
ADAMTS20ENSG00000173157ENST00000389420p.P678Lc.2033C>TSubstitution - Missense
NM_004667.3p.P1560Lc.4679C>TSubstitution - Missense
MALRD1ENSG00000204740ENST00000454679p.E564*c.1690G>TSubstitution - Nonsense
SLC5A12ENSG00000148942ENST00000280467p.A87Tc.259G>ASubstitution - Missense
TMEM63CENSG00000165548ENST00000298351p.M728Ic.2184G>ASubstitution - Missense
FAT3ENSG00000165323ENST00000409404p.V4281Vc.12843C>TSubstitution - coding silent
STXBP3ENSG00000116266ENST00000370008p.N191Nc.573T>CSubstitution - coding silent
NXPE1ENSG00000095110ENST00000424269p.E123Kc.367G>ASubstitution - Missense
SYNE3ENSG00000176438ENST00000334258p.G82Gc.246G>TSubstitution - coding silent
TRIM46ENSG00000163462ENST00000334634p.S627Sc.1881C>TSubstitution - coding silent
YY1AP1ENSG00000163374ENST00000368339p.P866Sc.2596C>TSubstitution - Missense
GATAD2BENSG00000143614ENST00000368655p.P226Sc.676C>TSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.P27Lc.80C>TSubstitution - Missense
ELF4ENSG00000102034ENST00000335997p.P196Pc.588C>ASubstitution - coding silent
NM_144967.2p.T343Tc.1029C>TSubstitution - coding silent
CDRT15ENSG00000223510ENST00000420162p.E110*c.328G>TSubstitution - Nonsense
ABCA12ENSG00000144452ENST00000272895p.T994Tc.2982C>TSubstitution - coding silent
PAX4ENSG00000106331ENST00000341640p.F91Ic.271T>ASubstitution - Missense
PPP1R1BENSG00000131771ENST00000580825p.E193Kc.577G>ASubstitution - Missense
ALG1ENSG00000033011ENST00000262374p.R274Cc.820C>TSubstitution - Missense
ENST00000325084p.E1032Ec.3096G>ASubstitution - coding silent
ENST00000357018p.E1032Ec.3096G>ASubstitution - coding silent
ARHGDIAENSG00000141522ENST00000269321p.?c.352-3C>TUnknown
ZNF709ENSG00000242852ENST00000397732p.R156*c.466C>TSubstitution - Nonsense
CISHENSG00000114737ENST00000348721p.D177Nc.529G>ASubstitution - Missense
IKZF3ENSG00000161405ENST00000346872p.N443Sc.1328A>GSubstitution - Missense
ATAD2BENSG00000119778ENST00000238789p.A620Ac.1860C>TSubstitution - coding silent
ITGAMENSG00000169896ENST00000287497p.?c.2363+10C>TUnknown
COL9A3ENSG00000092758ENST00000343916p.H161Hc.483C>TSubstitution - coding silent
VN1R2ENSG00000196131ENST00000341702p.S176Fc.527C>TSubstitution - Missense
AGPAT9ENSG00000138678ENST00000395226p.G8Gc.24G>ASubstitution - coding silent
GMPPAENSG00000144591ENST00000341142p.P35Sc.103C>TSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.?c.13764-4T>AUnknown
IFT80ENSG00000068885ENST00000326448p.V564Vc.1692G>TSubstitution - coding silent
BIN1ENSG00000136717ENST00000259238p.?c.315+3G>CUnknown
XM_293407.3p.Y220Nc.658T>ASubstitution - Missense
CLDN11ENSG00000013297ENST00000064724p.P142Sc.424C>TSubstitution - Missense
IGIPENSG00000182700ENST00000333305p.R45Rc.135G>ASubstitution - coding silent
GALNTL5ENSG00000106648ENST00000392800p.A21Ac.63T>CSubstitution - coding silent
FBXL18ENSG00000155034ENST00000453700p.S381Sc.1143C>TSubstitution - coding silent
UNC79ENSG00000133958ENST00000256339p.S707Gc.2119A>GSubstitution - Missense
CACNA1CENSG00000151067ENST00000344100p.?c.2224+1G>AUnknown
ENST00000322367p.S451Fc.1352C>TSubstitution - Missense
ENST00000356127p.E5154Kc.15460G>ASubstitution - Missense
DNAH9ENSG00000007174ENST00000262442p.T2883fs*35c.8645_8648delTGACDeletion - Frameshift
ENST00000318252p.W1932*c.5796G>ASubstitution - Nonsense
DNAH1ENSG00000114841ENST00000420323p.R939Cc.2815C>TSubstitution - Missense
ERBB2ENSG00000141736ENST00000269571p.S72Sc.216C>TSubstitution - coding silent
SEC14L5ENSG00000103184ENST00000251170p.P179Sc.535C>TSubstitution - Missense
HTTENSG00000197386ENST00000355072p.P2424Sc.7270C>TSubstitution - Missense
MICAL3ENSG00000243156ENST00000444520p.G388Ec.1163G>ASubstitution - Missense
C8orf34ENSG00000165084ENST00000518698p.S402Fc.1205C>TSubstitution - Missense
LAMA5ENSG00000130702ENST00000252999p.P2888Sc.8662C>TSubstitution - Missense
TRIM54ENSG00000138100ENST00000296098p.?c.993-10G>AUnknown
ENST00000405167p.P3106Lc.9317C>TSubstitution - Missense
SLC22A13ENSG00000172940ENST00000311856p.F409Sc.1226T>CSubstitution - Missense
DPP10ENSG00000175497ENST00000310323p.N753Nc.2259C>TSubstitution - coding silent
GKENSG00000198814ENST00000378943p.R234Rc.702G>ASubstitution - coding silent
CLIP2ENSG00000106665ENST00000223398p.?c.2721-4C>TUnknown
ADCY2ENSG00000078295ENST00000338316p.?c.870-7C>TUnknown
ADCY2ENSG00000078295ENST00000537121p.?c.330-7C>TUnknown
BRWD3ENSG00000165288ENST00000373275p.E1103Kc.3307G>ASubstitution - Missense
LRBAENSG00000198589ENST00000357115p.E2436Gc.7307A>GSubstitution - Missense
CDX1ENSG00000113722ENST00000231656p.T253Pc.757A>CSubstitution - Missense
PKHD1L1ENSG00000205038ENST00000378402p.N1953Ic.5858A>TSubstitution - Missense
TNS3ENSG00000136205ENST00000311160p.P970Pc.2910C>TSubstitution - coding silent
ZNF862ENSG00000106479ENST00000223210p.P717Lc.2150C>TSubstitution - Missense
GABRA3ENSG00000011677ENST00000370314p.L23Fc.67C>TSubstitution - Missense
OR10H1ENSG00000186723ENST00000334920p.F62Fc.186C>TSubstitution - coding silent
P2RX3ENSG00000109991ENST00000263314p.Y376Yc.1128C>TSubstitution - coding silent
LILRA2ENSG00000239998ENST00000251377p.G137Gc.411G>ASubstitution - coding silent
ENST00000262870p.R150Hc.449G>ASubstitution - Missense
SLMAPENSG00000163681ENST00000428312p.T407Ac.1219A>GSubstitution - Missense
KCNT2ENSG00000162687ENST00000367431p.P1021Sc.3061C>TSubstitution - Missense
STRAPENSG00000023734ENST00000419869p.P193Sc.577C>TSubstitution - Missense
KALRNENSG00000160145ENST00000360013p.Y1174Cc.3521A>GSubstitution - Missense
CPT1AENSG00000110090ENST00000376618p.T564Tc.1692G>CSubstitution - coding silent
SMAD9ENSG00000120693ENST00000350148p.H105Yc.313C>TSubstitution - Missense
C10orf40ENSG00000235931ENST00000521074p.E14Kc.40G>ASubstitution - Missense
DENND5AENSG00000184014ENST00000328194p.T525Ic.1574C>TSubstitution - Missense
CACNA1EENSG00000198216ENST00000367570p.R25Rc.73C>ASubstitution - coding silent
NIPBLENSG00000164190ENST00000448238p.A342Ec.1025C>ASubstitution - Missense
RHPN2ENSG00000131941ENST00000400226p.K396Kc.1188G>ASubstitution - coding silent
KCNS3ENSG00000170745ENST00000304101p.S145Lc.434C>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.?c.1245+10G>AUnknown
SPATA20ENSG00000006282ENST00000006658p.E140Ec.420G>ASubstitution - coding silent
GRIA3ENSG00000125675ENST00000264357p.L583Lc.1749G>ASubstitution - coding silent
CDH26ENSG00000124215ENST00000348616p.S140Lc.419C>TSubstitution - Missense
LILRB4ENSG00000186818ENST00000391736p.D70Ec.210C>ASubstitution - Missense
ABCG1ENSG00000160179ENST00000361802p.Q632*c.1894C>TSubstitution - Nonsense
AGBL5ENSG00000084693ENST00000360131p.R618Qc.1853G>ASubstitution - Missense
DEFB115ENSG00000215547ENST00000400552p.S48Sc.144A>TSubstitution - coding silent
FAM47CENSG00000198173ENST00000358047p.E609Kc.1825G>ASubstitution - Missense
TIMP1ENSG00000102265ENST00000218388p.?c.454-8C>TUnknown
TFRCENSG00000072274ENST00000360110p.?c.435-4C>TUnknown
ARHGEF38ENSG00000236699ENST00000420470p.M1Ic.3G>ASubstitution - Missense
NM_006343p.G604Ec.1811G>ASubstitution - Missense
ZIC1ENSG00000152977ENST00000282928p.?c.1147-7C>TUnknown
DYSFENSG00000135636ENST00000410020p.?c.1494-4C>TUnknown
GDI1ENSG00000203879ENST00000447750p.?c.719+5G>AUnknown
PCLOENSG00000186472ENST00000333891p.?c.13764-4T>AUnknown
LPAENSG00000198670ENST00000316300p.A849Vc.2546C>TSubstitution - Missense
TEX11ENSG00000120498ENST00000374333p.?c.245-4G>CUnknown
NCKAP5ENSG00000176771ENST00000409261p.G842Gc.2526G>ASubstitution - coding silent
KCNT2ENSG00000162687ENST00000367431p.F814Fc.2442T>CSubstitution - coding silent
KCNT2ENSG00000162687ENST00000367431p.G89Ec.266G>ASubstitution - Missense
CRB1ENSG00000134376ENST00000535699p.E608Kc.1822G>ASubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.?c.11263+9C>TUnknown
C14orf80ENSG00000185347ENST00000329886p.F19Fc.57C>TSubstitution - coding silent
SLC45A1ENSG00000162426ENST00000377479p.K525Kc.1575G>ASubstitution - coding silent
PODNENSG00000174348ENST00000371500p.?c.400-7C>TUnknown
PPIP5K1ENSG00000168781ENST00000348806p.E1403Dc.4209G>TSubstitution - Missense
NOMO2ENSG00000185164ENST00000381474p.R418Rc.1254C>TSubstitution - coding silent
AGBL1ENSG00000166748ENST00000389298p.L123Lc.367C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000420246p.P27Lc.80C>TSubstitution - Missense
CCDC47ENSG00000108588ENST00000582252p.P381Lc.1142C>TSubstitution - Missense
MYCBPAPENSG00000136449ENST00000436259p.E846Kc.2536G>ASubstitution - Missense
EPB41L3ENSG00000082397ENST00000544123p.S704Sc.2112G>ASubstitution - coding silent
EPB41L3ENSG00000082397ENST00000542146p.S178Sc.534G>ASubstitution - coding silent
NLRP7ENSG00000167634ENST00000446217p.S55Fc.164C>TSubstitution - Missense
MYH14ENSG00000105357ENST00000440075p.L1821Lc.5463C>TSubstitution - coding silent
SLC52A3ENSG00000101276ENST00000381944p.C296Fc.887G>TSubstitution - Missense
SONENSG00000159140ENST00000290239p.P1159Sc.3475C>TSubstitution - Missense
MERTKENSG00000153208ENST00000295408p.G604Ec.1811G>ASubstitution - Missense
SLC2A11ENSG00000133460ENST00000345044p.F365Sc.1094T>CSubstitution - Missense
ITGAVENSG00000138448ENST00000433736p.L154Fc.460C>TSubstitution - Missense
RGPD4ENSG00000196862ENST00000354986p.?c.4925-7G>CUnknown
ENST00000310397_v70p.W1124*c.3372G>ASubstitution - Nonsense
ABCA12ENSG00000144452ENST00000389661p.P970Lc.2909C>TSubstitution - Missense
CNNM4ENSG00000158158ENST00000540067p.S53Ic.158G>TSubstitution - Missense
SRGAP3ENSG00000196220ENST00000360413p.A1056Vc.3167C>TSubstitution - Missense
ARPP21ENSG00000172995ENST00000458225p.V457Vc.1371G>ASubstitution - coding silent
NF1ENSG00000196712ENST00000444181p.T550fs*18c.1640_1664del25Deletion - Frameshift
LPHN3ENSG00000150471ENST00000507625p.T897Ic.2690C>TSubstitution - Missense
SLC30A3ENSG00000115194ENST00000447008p.E85Kc.253G>ASubstitution - Missense
TENM2ENSG00000145934ENST00000545108p.P1337Lc.4010C>TSubstitution - Missense
PCDHAC1ENSG00000248383ENST00000409700p.S692Fc.2075C>TSubstitution - Missense
DSEENSG00000111817ENST00000540275p.P61Pc.183G>ASubstitution - coding silent
MYO10ENSG00000145555ENST00000513610p.E29Kc.85G>ASubstitution - Missense
BAI3ENSG00000135298ENST00000238918p.L280Lc.840C>TSubstitution - coding silent
DNAH8ENSG00000124721ENST00000449981p.G1005Wc.3013G>TSubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.E5102Ec.15306G>ASubstitution - coding silent
MYO6ENSG00000196586ENST00000369981p.L168Lc.502C>TSubstitution - coding silent
ENST00000328843_v70p.I166Vc.496A>GSubstitution - Missense
ENST00000328843_v70p.H665Yc.1993C>TSubstitution - Missense
PAX4ENSG00000106331ENST00000338516p.F99Ic.295T>ASubstitution - Missense
C8orf34ENSG00000165084ENST00000325233p.S146Fc.437C>TSubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000393061p.H656Hc.1968C>TSubstitution - coding silent
BCORL1ENSG00000085185ENST00000303743p.Q1366Qc.4098G>ASubstitution - coding silent
BCORL1ENSG00000085185ENST00000303743p.K1367*c.4099A>TSubstitution - Nonsense
KLHL13ENSG00000003096ENST00000539496p.Y563Sc.1688A>CSubstitution - Missense
ENST00000357166_v70p.R298*c.892C>TSubstitution - Nonsense
DYNC2LI1ENSG00000138036ENST00000260605p.R207*c.619C>TSubstitution - Nonsense
PLCE1ENSG00000138193ENST00000260766p.R1495Qc.4484G>ASubstitution - Missense
MS4A14ENSG00000166928ENST00000300187p.P239Sc.715C>TSubstitution - Missense
AGBL4ENSG00000186094ENST00000371839p.D345Nc.1033G>ASubstitution - Missense
KANK1ENSG00000107104ENST00000382293p.I254Ic.762C>TSubstitution - coding silent
GPR132ENSG00000183484ENST00000329797p.S194Nc.581G>ASubstitution - Missense
KRTAP5-7ENSG00000244411ENST00000398536p.S69Sc.207C>TSubstitution - coding silent
TAOK3ENSG00000135090ENST00000419821p.C257Fc.770G>TSubstitution - Missense
MTF1ENSG00000188786ENST00000373036p.P528Tc.1582C>ASubstitution - Missense
KCNT2ENSG00000162687ENST00000294725p.G106Sc.316G>ASubstitution - Missense
CLCC1ENSG00000121940ENST00000369976p.S262Tc.785G>CSubstitution - Missense
OLAHENSG00000152463ENST00000378217p.K44Tc.131A>CSubstitution - Missense
SLC5A12ENSG00000148942ENST00000396005p.A87Tc.259G>ASubstitution - Missense
ADARENSG00000160710ENST00000368474p.F537Fc.1611C>TSubstitution - coding silent
NM_032105.1p.P435Sc.1303C>TSubstitution - Missense
CEP128ENSG00000100629ENST00000216517p.Q430Lc.1289A>TSubstitution - Missense
ARHGAP17ENSG00000140750ENST00000289968p.S161Sc.483C>GSubstitution - coding silent
NDUFAB1ENSG00000004779ENST00000007516p.L45Lc.135C>TSubstitution - coding silent
MEGF8ENSG00000105429ENST00000251268p.?c.4682-8A>CUnknown
ENST00000251268_v61p.?c.6059-8A>CUnknown
WFDC5ENSG00000175121ENST00000307971p.T148Tc.444G>ASubstitution - coding silent
KYNUENSG00000115919ENST00000375773p.D53Nc.157G>ASubstitution - Missense
KYNUENSG00000115919ENST00000375773p.?c.508-9C>TUnknown
SLC13A3ENSG00000158296ENST00000339636p.Q196*c.586C>TSubstitution - Nonsense
NR4A2ENSG00000153234ENST00000339562p.S188Fc.563C>TSubstitution - Missense
PKP4ENSG00000144283ENST00000389759p.K872Kc.2616G>ASubstitution - coding silent
FMNL2ENSG00000157827ENST00000288670p.E663Kc.1987G>ASubstitution - Missense
NEBENSG00000183091ENST00000397345p.D3863Nc.11587G>ASubstitution - Missense
NM_020416.2p.?c.791-6C>TUnknown
TANC1ENSG00000115183ENST00000263635p.A536Ac.1608C>TSubstitution - coding silent
LPHN3ENSG00000150471ENST00000514591p.T829Ic.2486C>TSubstitution - Missense
HTR5AENSG00000157219ENST00000287907p.L29Lc.85C>TSubstitution - coding silent
ZNF74ENSG00000185252ENST00000400451p.H466Yc.1396C>TSubstitution - Missense
ZNF74ENSG00000185252ENST00000400451p.A215Ac.645G>ASubstitution - coding silent
ITGB8ENSG00000105855ENST00000222573p.F179Lc.535T>CSubstitution - Missense
ITGB8ENSG00000105855ENST00000222573p.F179Lc.535T>CSubstitution - Missense
ENST00000400460p.T184Tc.552G>ASubstitution - coding silent
SGSM1ENSG00000167037ENST00000400359p.?c.1936-7C>TUnknown
RGL4ENSG00000159496ENST00000290691p.D410Nc.1228G>ASubstitution - Missense
SCN7AENSG00000136546ENST00000409855p.L183Pc.548T>CSubstitution - Missense
SCN7AENSG00000136546ENST00000409855p.L183Pc.548T>CSubstitution - Missense
TGENSG00000042832ENST00000220616p.F577Fc.1731C>TSubstitution - coding silent
ASAP1ENSG00000153317ENST00000357668p.?c.1218-1G>AUnknown
DFNB31ENSG00000095397ENST00000374059p.P278Pc.834G>ASubstitution - coding silent
C9orf117ENSG00000160401ENST00000373295p.R198Kc.593G>ASubstitution - Missense
SPTAN1ENSG00000197694ENST00000372731p.M541Vc.1621A>GSubstitution - Missense
LRRC15ENSG00000172061ENST00000439944p.E289Kc.865G>ASubstitution - Missense
LRRC15ENSG00000172061ENST00000347624p.E283Kc.847G>ASubstitution - Missense
ENSG00000213132ENST00000392468p.R67Cc.199C>TSubstitution - Missense
SPOCK3ENSG00000196104ENST00000357545p.D239Nc.715G>ASubstitution - Missense
FSTL5ENSG00000168843ENST00000306100p.E726Kc.2176G>ASubstitution - Missense
PARP8ENSG00000151883ENST00000281631p.G745Gc.2235G>ASubstitution - coding silent
RGS14ENSG00000169220ENST00000408923p.R194Lc.581G>TSubstitution - Missense
SLC35B2ENSG00000157593ENST00000393812p.E131Gc.392A>GSubstitution - Missense
TCTE1ENSG00000146221ENST00000371505p.N123Sc.368A>GSubstitution - Missense
MYBPC3ENSG00000134571ENST00000545968p.G690Gc.2070G>ASubstitution - coding silent
GRM8ENSG00000179603ENST00000358373p.I209Ic.627C>TSubstitution - coding silent
UNC13CENSG00000137766ENST00000545554p.R1039Cc.3115C>TSubstitution - Missense
PTPRTENSG00000196090ENST00000373184p.E1435Kc.4303G>ASubstitution - Missense
CADPS2ENSG00000081803ENST00000313070p.I476Ic.1428C>TSubstitution - coding silent
OR5D14ENSG00000186113ENST00000335605p.L290Lc.870G>ASubstitution - coding silent
ADAMTSL2ENSG00000197859ENST00000393061p.V980Vc.2940G>ASubstitution - coding silent
NFASCENSG00000163531ENST00000367171p.R260Cc.778C>TSubstitution - Missense
PRKG1ENSG00000185532ENST00000373976p.I122Vc.364A>GSubstitution - Missense
BCL9LENSG00000186174ENST00000334801p.P450Lc.1349C>TSubstitution - Missense
MYOFENSG00000138119ENST00000371502p.R781Rc.2343G>ASubstitution - coding silent
OR5M8ENSG00000181371ENST00000327216p.L14Lc.40C>TSubstitution - coding silent
OR5M8ENSG00000181371ENST00000327216p.L13Lc.39C>TSubstitution - coding silent
OR5W2ENSG00000187612ENST00000344514p.Y290Hc.868T>CSubstitution - Missense
ENST00000314689p.D83Gc.248A>GSubstitution - Missense
OR4C15ENSG00000181939ENST00000314644p.A272Tc.814G>ASubstitution - Missense
OR4C11ENSG00000172188ENST00000302231p.R288Rc.864G>ASubstitution - coding silent
PITPNM2ENSG00000090975ENST00000280562p.P93Lc.278C>TSubstitution - Missense
BTBD11ENSG00000151136ENST00000357167p.P251Pc.753C>TSubstitution - coding silent
MYO16ENSG00000041515ENST00000251041p.?c.551-6C>TUnknown
PRAMEF14ENSG00000204481ENST00000334600p.E416Dc.1248G>TSubstitution - Missense
SARSENSG00000031698ENST00000369923p.?c.448-6C>TUnknown
POU2F1ENSG00000143190ENST00000420254p.G318Ec.953G>ASubstitution - Missense
USH2AENSG00000042781ENST00000366943p.H728Yc.2182C>TSubstitution - Missense
NFASCENSG00000163531ENST00000367171p.I784Ic.2352C>TSubstitution - coding silent
FKBP15ENSG00000119321ENST00000238256p.A292Vc.875C>TSubstitution - Missense
FKBP15ENSG00000119321ENST00000446284p.A317Vc.950C>TSubstitution - Missense
COL12A1ENSG00000111799ENST00000322507p.R1414*c.4240C>TSubstitution - Nonsense
GALMENSG00000143891ENST00000272252p.R319Cc.955C>TSubstitution - Missense
MPP3ENSG00000161647ENST00000398389p.I151Vc.451A>GSubstitution - Missense
FAM187BENSG00000177558ENST00000324675p.?c.722+6G>AUnknown
ZNF565ENSG00000196357ENST00000304116p.R389Tc.1166G>CSubstitution - Missense
TYROBPENSG00000011600ENST00000262629p.G65Gc.195C>TSubstitution - coding silent
CLIP3ENSG00000105270ENST00000360535p.P478Qc.1433C>ASubstitution - Missense
CLIP3ENSG00000105270ENST00000360535p.P478Tc.1432C>ASubstitution - Missense
PSMD8ENSG00000099341ENST00000215071p.S106Sc.318C>TSubstitution - coding silent
ENST00000404323p.S13Sc.39C>TSubstitution - coding silent
PSMD8ENSG00000099341ENST00000215071p.P107Sc.319C>TSubstitution - Missense
ENST00000404323p.P14Sc.40C>TSubstitution - Missense
TNIKENSG00000154310ENST00000436636p.E911Ec.2733G>ASubstitution - coding silent
WDR49ENSG00000174776ENST00000453925p.G452Ec.1355G>ASubstitution - Missense
PCDHGA7ENSG00000253537ENST00000518325p.R282Wc.844C>TSubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000354484p.V871Vc.2613G>ASubstitution - coding silent
SPATA31E1ENSG00000177992ENST00000325643p.P961Pc.2883C>TSubstitution - coding silent
RYR1ENSG00000196218ENST00000359596p.F3636Fc.10908C>TSubstitution - coding silent
AKT2ENSG00000105221ENST00000392038p.D46Nc.136G>ASubstitution - Missense
HIPK4ENSG00000160396ENST00000291823p.G409Sc.1225G>ASubstitution - Missense
NM_144685p.G334Sc.1000G>ASubstitution - Missense
HIPK4ENSG00000160396ENST00000291823p.F248Fc.744C>TSubstitution - coding silent
FCGBPENSG00000090920ENST00000221347p.S4168Fc.12503C>TSubstitution - Missense
CCDC97ENSG00000142039ENST00000269967p.L99Lc.297G>ASubstitution - coding silent
SDK1ENSG00000146555ENST00000404826p.S1593Fc.4778C>TSubstitution - Missense
ELMO1ENSG00000155849ENST00000310758p.A615Ac.1845C>TSubstitution - coding silent
GPR112ENSG00000156920ENST00000394143p.D898Nc.2692G>ASubstitution - Missense
MAGEA10ENSG00000124260ENST00000370323p.S40Lc.119C>TSubstitution - Missense
GABRQENSG00000147402ENST00000370306p.K115Ic.344A>TSubstitution - Missense
CNGA2ENSG00000183862ENST00000329903p.D118Nc.352G>ASubstitution - Missense
MAGEC3ENSG00000165509ENST00000298296p.M224Ic.672G>ASubstitution - Missense
MAGEC3ENSG00000165509ENST00000298296p.D610Gc.1829A>GSubstitution - Missense
SLC4A9ENSG00000113073ENST00000230993p.A975Tc.2923G>ASubstitution - Missense
L1CAMENSG00000198910ENST00000370060p.S1178Sc.3534C>TSubstitution - coding silent
ENST00000305759p.S754Sc.2262C>TSubstitution - coding silent
ENST00000544403p.S530Fc.1589C>TSubstitution - Missense
ENST00000544403p.S530Sc.1590C>TSubstitution - coding silent
PCDHGA1ENSG00000204956ENST00000517417p.V288Lc.862G>TSubstitution - Missense
FBXL7ENSG00000183580ENST00000504595p.V230Ic.688G>ASubstitution - Missense
MARCH11ENSG00000183654ENST00000332432p.S338Sc.1014T>CSubstitution - coding silent
WRNIP1ENSG00000124535ENST00000380773p.?c.1015-10C>TUnknown
VARS2ENSG00000137411ENST00000321897p.P1056Sc.3166C>TSubstitution - Missense
RINT1ENSG00000135249ENST00000257700p.Q119Ec.355C>GSubstitution - Missense
ATXN7L1ENSG00000146776ENST00000419735p.S388Sc.1164C>TSubstitution - coding silent
EPHA1ENSG00000146904ENST00000275815p.E706Kc.2116G>ASubstitution - Missense
GIMAP5ENSG00000196329ENST00000358647p.G211Gc.633G>ASubstitution - coding silent
ZNF862ENSG00000106479ENST00000223210p.P717Sc.2149C>TSubstitution - Missense
TNS3ENSG00000136205ENST00000311160p.P970Lc.2909C>TSubstitution - Missense
RADILENSG00000157927ENST00000399583p.A743Sc.2227G>TSubstitution - Missense
ENST00000404991_v68p.Q59fs*5c.174_176GCA>CGComplex - frameshift
FBXL18ENSG00000155034ENST00000382368p.S381Sc.1143C>TSubstitution - coding silent
PAPOLBENSG00000218823ENST00000404991p.Q59fs*5c.174_176GCA>CGComplex - frameshift
RP1L1ENSG00000183638ENST00000382483p.S144Sc.432C>TSubstitution - coding silent
NQO1ENSG00000181019ENST00000320623p.P220Sc.658C>TSubstitution - Missense
CMTR2ENSG00000180917ENST00000338099p.L318Lc.954C>TSubstitution - coding silent
ZNF19ENSG00000157429ENST00000288177p.P155Sc.463C>TSubstitution - Missense
ENST00000316490_v65p.H2170Hc.6510C>TSubstitution - coding silent
ENST00000316490_v65p.R1405Rc.4215G>ASubstitution - coding silent
ENST00000316490_v65p.?c.11089-1G>AUnknown
NPIPB5ENSG00000243716ENST00000424340p.P460fs*12c.1377_1563>17Unknown
NPIPB5ENSG00000243716ENST00000424340p.P460fs*12c.1377_1563>17Unknown
C19orf57ENSG00000132016ENST00000346736p.?c.394-6C>TUnknown
PRR5ENSG00000186654ENST00000336985p.L99Fc.295C>TSubstitution - Missense
PNPLA5ENSG00000100341ENST00000216177p.?c.1083-7C>TUnknown
TUBGCP6ENSG00000128159ENST00000248846p.R860Rc.2580G>ASubstitution - coding silent
CELSR1ENSG00000075275ENST00000262738p.D1303Dc.3909C>TSubstitution - coding silent
ANO10ENSG00000160746ENST00000292246p.P144Lc.431C>TSubstitution - Missense
UQCRC1ENSG00000010256ENST00000203407p.E110Qc.328G>CSubstitution - Missense
FBXW12ENSG00000164049ENST00000296438p.L104Fc.310C>TSubstitution - Missense
ZNF366ENSG00000178175ENST00000318442p.F71Fc.213C>TSubstitution - coding silent
FOXP4ENSG00000137166ENST00000373060p.?c.658+10C>TUnknown
MUC12ENSG00000205277ENST00000536621p.E4243Ec.12729A>GSubstitution - coding silent
MUC12ENSG00000205277ENST00000536621p.E4959Ec.14877G>ASubstitution - coding silent
MUC17ENSG00000169876ENST00000306151p.E4323Ac.12968A>CSubstitution - Missense
RELNENSG00000189056ENST00000343529p.I350Ic.1050C>TSubstitution - coding silent
CLIP2ENSG00000106665ENST00000361545p.?c.2616-4C>TUnknown
CDKN2AENSG00000147889ENST00000498124p.P48Lc.143C>TSubstitution - Missense
WNK3ENSG00000196632ENST00000354646p.P1006Lc.3017C>TSubstitution - Missense
ATP13A1ENSG00000105726ENST00000357324p.L827Pc.2480T>CSubstitution - Missense
PDE4CENSG00000105650ENST00000355502p.G91Ec.272G>ASubstitution - Missense
ZNF493ENSG00000196268ENST00000392288p.S237Tc.709T>ASubstitution - Missense
PRKD2ENSG00000105287ENST00000291281p.?c.1240-6C>TUnknown
RTN2ENSG00000125744ENST00000245923p.S165Fc.494C>TSubstitution - Missense
CEMP1ENSG00000205923ENST00000382350p.G220Ec.659G>ASubstitution - Missense
SRRM2ENSG00000167978ENST00000301740p.R1594Wc.4780C>TSubstitution - Missense
UGGT1ENSG00000136731ENST00000259253p.L660Lc.1978C>TSubstitution - coding silent
THSD7BENSG00000144229ENST00000272643p.G1086Ec.3257G>ASubstitution - Missense
THSD7BENSG00000144229ENST00000413152p.G1055Ec.3164G>ASubstitution - Missense
THSD7BENSG00000144229ENST00000272643p.P1117Sc.3349C>TSubstitution - Missense
NCKAP5ENSG00000176771ENST00000409261p.G842Ec.2525G>ASubstitution - Missense
GAP43ENSG00000172020ENST00000393780p.P253Sc.757C>TSubstitution - Missense
PHLDB2ENSG00000144824ENST00000431670p.F532Fc.1596C>TSubstitution - coding silent
LRP1BENSG00000168702ENST00000389484p.H1296Yc.3886C>TSubstitution - Missense
SLCO2A1ENSG00000174640ENST00000310926p.?c.1295+8G>AUnknown
GAP43ENSG00000172020ENST00000305124p.P217Sc.649C>TSubstitution - Missense
GAP43ENSG00000172020ENST00000305124p.P217Lc.650C>TSubstitution - Missense
CNTN6ENSG00000134115ENST00000446702p.R565Rc.1695G>ASubstitution - coding silent
FBXL5ENSG00000118564ENST00000341285p.E117Ec.351G>ASubstitution - coding silent
DCLK2ENSG00000170390ENST00000302176p.P342Lc.1025C>TSubstitution - Missense
CYP4V2ENSG00000145476ENST00000378802p.I260Ic.780C>TSubstitution - coding silent
FAM170AENSG00000164334ENST00000335286p.S108Lc.323C>TSubstitution - Missense
FAM170AENSG00000164334ENST00000509264p.S108Lc.323C>TSubstitution - Missense
SLC25A48ENSG00000145832ENST00000420621p.F285Fc.855C>TSubstitution - coding silent
TNMDENSG00000000005ENST00000373031p.E202Kc.604G>ASubstitution - Missense
COL5A3ENSG00000080573ENST00000264828p.G1094Ec.3281G>ASubstitution - Missense
PTPRMENSG00000173482ENST00000332175p.?c.3423+7C>TUnknown
CACNG2ENSG00000166862ENST00000300105p.G256Dc.767G>ASubstitution - Missense
CSF2RBENSG00000100368ENST00000403662p.V412Mc.1234G>ASubstitution - Missense
CYTH4ENSG00000100055ENST00000248901p.P120Sc.358C>TSubstitution - Missense
ZGLP1ENSG00000220201ENST00000403903p.E192Kc.574G>ASubstitution - Missense
PPAN-P2RY11ENSG00000243207ENST00000393796p.K768Kc.2304G>ASubstitution - coding silent
P2RY11ENSG00000244165ENST00000321826p.K348Kc.1044G>ASubstitution - coding silent
SOGA2ENSG00000168502ENST00000359865p.P439Sc.1315C>TSubstitution - Missense
ADCYAP1ENSG00000141433ENST00000450565p.D97fs*63c.289_299del11Deletion - Frameshift
MKL1ENSG00000196588ENST00000355630p.L713Lc.2139C>TSubstitution - coding silent
EP300ENSG00000100393ENST00000263253p.N204Dc.610A>GSubstitution - Missense
ZC3H7BENSG00000100403ENST00000352645p.L221Lc.663C>TSubstitution - coding silent
GFRALENSG00000187871ENST00000340465p.I353Vc.1057A>GSubstitution - Missense
ADTRPENSG00000111863ENST00000414691p.H128Qc.384T>ASubstitution - Missense
ROS1ENSG00000047936ENST00000368508p.P1010Tc.3028C>ASubstitution - Missense
LAMA4ENSG00000112769ENST00000389463p.R1257*c.3769C>TSubstitution - Nonsense
FAM135AENSG00000082269ENST00000418814p.N108Nc.324T>CSubstitution - coding silent
FAM135AENSG00000082269ENST00000370479p.N65Nc.195T>CSubstitution - coding silent
PKHD1L1ENSG00000205038ENST00000378402p.P2609Lc.7826C>TSubstitution - Missense
BLKENSG00000136573ENST00000259089p.W234*c.702G>ASubstitution - Nonsense
ZNF462ENSG00000148143ENST00000457913p.V2059Vc.6177C>TSubstitution - coding silent
ENST00000318252p.P1476Lc.4427C>TSubstitution - Missense
POLBENSG00000070501ENST00000265421p.R299Cc.895C>TSubstitution - Missense
ADAM32ENSG00000197140ENST00000379907p.?c.2319-6C>TUnknown
FAM47CENSG00000198173ENST00000358047p.E609Kc.1825G>ASubstitution - Missense
RGNENSG00000130988ENST00000397180p.R64Cc.190C>TSubstitution - Missense
TIMP1ENSG00000102265ENST00000218388p.?c.454-9C>TUnknown
NLRP4ENSG00000160505ENST00000587891p.E167Kc.499G>ASubstitution - Missense
SAFB2ENSG00000130254ENST00000252542p.D867Nc.2599G>ASubstitution - Missense
ZNF530ENSG00000183647ENST00000332854p.?c.31-5C>TUnknown
DUS3LENSG00000141994ENST00000309061p.P284Pc.852C>TSubstitution - coding silent
CD300AENSG00000167851ENST00000360141p.G66Ec.197G>ASubstitution - Missense
GRB2ENSG00000177885ENST00000392564p.G180Vc.539G>TSubstitution - Missense
SULT1C3ENSG00000196228ENST00000329106p.E283Kc.847G>ASubstitution - Missense
ARPP21ENSG00000172995ENST00000187397p.E74Kc.220G>ASubstitution - Missense
ARPP21ENSG00000172995ENST00000428373p.E74Kc.220G>ASubstitution - Missense
TRANK1ENSG00000168016ENST00000429976p.S2794*c.8381C>ASubstitution - Nonsense
TRANK1ENSG00000168016ENST00000301807p.S2237*c.6710C>ASubstitution - Nonsense
SCN11AENSG00000168356ENST00000302328p.W913*c.2738G>ASubstitution - Nonsense
SLCO6A1ENSG00000205359ENST00000379807p.F320Fc.960T>CSubstitution - coding silent
CDH11ENSG00000140937ENST00000268603p.L446Lc.1338G>ASubstitution - coding silent
CDH11ENSG00000140937ENST00000394156p.L446Lc.1338G>ASubstitution - coding silent
ACDENSG00000102977ENST00000219251p.A57Ac.171G>ASubstitution - coding silent
SLC4A5ENSG00000188687ENST00000377634p.P446Sc.1336C>TSubstitution - Missense
SLC4A5ENSG00000188687ENST00000394019p.P446Sc.1336C>TSubstitution - Missense
DYSFENSG00000135636ENST00000410020p.G1820Gc.5460G>TSubstitution - coding silent
ATP6V1B1ENSG00000116039ENST00000234396p.E309Kc.925G>ASubstitution - Missense
TIPARPENSG00000163659ENST00000295924p.P175Lc.524C>TSubstitution - Missense
EGFENSG00000138798ENST00000265171p.L1051Lc.3151C>TSubstitution - coding silent
PCDH10ENSG00000138650ENST00000264360p.G175Ec.524G>ASubstitution - Missense
KIAA1109ENSG00000138688ENST00000264501p.G3244Ec.9731G>ASubstitution - Missense
TNIP3ENSG00000050730ENST00000057513p.V273Ic.817G>ASubstitution - Missense
CRIPAKENSG00000179979ENST00000324803p.R126Rc.378C>TSubstitution - coding silent
DNAH11ENSG00000105877ENST00000328843p.I166Vc.496A>GSubstitution - Missense
GMPRENSG00000137198ENST00000259727p.A201Tc.601G>ASubstitution - Missense
HEATR2ENSG00000164818ENST00000297440p.T631Ic.1892C>TSubstitution - Missense
RSBN1LENSG00000187257ENST00000334955p.S419Lc.1256C>TSubstitution - Missense
KIAA1324LENSG00000164659ENST00000450689p.Y711Nc.2131T>ASubstitution - Missense
PCLOENSG00000186472ENST00000333891p.F932Cc.2795T>GSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.F878Cc.2633T>GSubstitution - Missense
F8ENSG00000185010ENST00000360256p.S693Lc.2078C>TSubstitution - Missense
PLXNA3ENSG00000130827ENST00000369682p.E623Kc.1867G>ASubstitution - Missense
PLXNA3ENSG00000130827ENST00000369682p.?c.5370-10G>AUnknown
ZNF804BENSG00000182348ENST00000333190p.Q1060*c.3178C>TSubstitution - Nonsense
PTCHD1ENSG00000165186ENST00000379361p.E467Ec.1401G>ASubstitution - coding silent
NM_173495.1p.E362Ec.1086G>ASubstitution - coding silent
NM_173495.1p.S540Yc.1619C>ASubstitution - Missense
PDHA1ENSG00000131828ENST00000545074p.L99Lc.297C>TSubstitution - coding silent
SH3KBP1ENSG00000147010ENST00000397821p.F322Fc.966C>TSubstitution - coding silent
SH3KBP1ENSG00000147010ENST00000379698p.F285Fc.855C>TSubstitution - coding silent
SH3KBP1ENSG00000147010ENST00000379697p.F366Fc.1098C>TSubstitution - coding silent
DDX18ENSG00000088205ENST00000263239p.T267Tc.801C>TSubstitution - coding silent
ENST00000378682p.G273Ec.818G>ASubstitution - Missense
ENST00000378946_v70p.R234Rc.702G>ASubstitution - coding silent
RUFY4ENSG00000188282ENST00000344321p.T387Tc.1161C>TSubstitution - coding silent
BIN1ENSG00000136717ENST00000316724p.?c.315+3G>CUnknown
CRYBA2ENSG00000163499ENST00000392096p.S191Sc.573C>TSubstitution - coding silent
UGT1A4ENSG00000244474ENST00000373409p.F227Yc.680T>ASubstitution - Missense
COPS7BENSG00000144524ENST00000410024p.R148Rc.444A>GSubstitution - coding silent
SP140LENSG00000185404ENST00000444636p.?c.107+3G>AUnknown
SPTBN1ENSG00000115306ENST00000333896p.N1208Sc.3623A>GSubstitution - Missense
ESPNLENSG00000144488ENST00000343063p.E581Kc.1741G>ASubstitution - Missense
COL6A3ENSG00000163359ENST00000295550p.P1942Pc.5826G>ASubstitution - coding silent
ADCY5ENSG00000173175ENST00000462833p.A261Tc.781G>ASubstitution - Missense
ARHGAP25ENSG00000163219ENST00000409202p.F470Fc.1410C>TSubstitution - coding silent
MGAMENSG00000257335ENST00000475668p.D1438Nc.4312G>ASubstitution - Missense
SCRIBENSG00000180900ENST00000356994p.L1083Lc.3247C>TSubstitution - coding silent
SCRIBENSG00000180900ENST00000356994p.L1083Lc.3247C>TSubstitution - coding silent
C8orf34ENSG00000165084ENST00000337103p.S377Fc.1130C>TSubstitution - Missense
NAT2ENSG00000156006ENST00000286479p.P228Sc.682C>TSubstitution - Missense
CNOT7ENSG00000198791ENST00000361272p.?c.730-8C>TUnknown
TUBB6ENSG00000176014ENST00000317702p.A373fs*29c.1116_1117insTInsertion - Frameshift
METRNLENSG00000176845ENST00000320095p.F205Fc.615C>TSubstitution - coding silent
BRSK1ENSG00000160469ENST00000309383p.G204Gc.612G>ASubstitution - coding silent
KIR3DL1ENSG00000167633ENST00000391728p.L339Vc.1015C>GSubstitution - Missense
KIR3DL2ENSG00000240403ENST00000326321p.?c.1158+7C>TUnknown
NLRP7ENSG00000167634ENST00000328092p.S27Fc.80C>TSubstitution - Missense
NLRP7ENSG00000167634ENST00000448121p.S27Fc.80C>TSubstitution - Missense
DEFB119ENSG00000180483ENST00000376321p.C28Yc.83G>ASubstitution - Missense
CECR2ENSG00000099954ENST00000400585p.G853Vc.2558G>TSubstitution - Missense
MICAL3ENSG00000243156ENST00000429452p.G388Ec.1163G>ASubstitution - Missense
MICAL3ENSG00000243156ENST00000207726p.G388Ec.1163G>ASubstitution - Missense
CCT8L2ENSG00000198445ENST00000359963p.D397Nc.1189G>ASubstitution - Missense
BPIFB6ENSG00000167104ENST00000349552p.?c.578-7C>TUnknown
RTN4RENSG00000040608ENST00000043402p.P365Sc.1093C>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.R24821Wc.74461C>TSubstitution - Missense
NM_003319p.R24696Wc.74086C>TSubstitution - Missense
SF3B1ENSG00000115524ENST00000335508p.?c.1807-8C>TUnknown
GTF3C3ENSG00000119041ENST00000263956p.L408Fc.1222C>TSubstitution - Missense
DNAH7ENSG00000118997ENST00000312428p.H3209Yc.9625C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.?c.28279+1G>AUnknown
ENST00000356127p.?c.28279+1G>AUnknown
ASXL2ENSG00000143970ENST00000435504p.D802Gc.2405A>GSubstitution - Missense
ASXL2ENSG00000143970ENST00000272341p.D542Gc.1625A>GSubstitution - Missense
SNED1ENSG00000162804ENST00000310397p.W1124*c.3372G>ASubstitution - Nonsense
ABHD1ENSG00000143994ENST00000316470p.L128Fc.382C>TSubstitution - Missense
AGBL5ENSG00000084693ENST00000323064p.R618Qc.1853G>ASubstitution - Missense
EMILIN1ENSG00000138080ENST00000380320p.R250Rc.750C>TSubstitution - coding silent
ZBTB11ENSG00000066422ENST00000312938p.E724Gc.2171A>GSubstitution - Missense
GUCA1CENSG00000138472ENST00000261047p.L44Sc.131T>CSubstitution - Missense
GUCA1CENSG00000138472ENST00000393963p.L44Sc.131T>CSubstitution - Missense
NLRC3ENSG00000167984ENST00000301749p.E307Kc.919G>ASubstitution - Missense
NM_024735.2p.S333Fc.998C>TSubstitution - Missense
ABATENSG00000183044ENST00000396600p.E49Vc.146A>TSubstitution - Missense
IRF8ENSG00000140968ENST00000268638p.P355Ac.1063C>GSubstitution - Missense
ENST00000570743p.?c.4657-6C>TUnknown
COL20A1ENSG00000101203ENST00000326996p.E924Ec.2772G>ASubstitution - coding silent
SLC52A3ENSG00000101276ENST00000217254p.C296Fc.887G>TSubstitution - Missense
TTC28ENSG00000100154ENST00000397906p.A2454Sc.7360G>TSubstitution - Missense
SLC30A3ENSG00000115194ENST00000233535p.E90Kc.268G>ASubstitution - Missense
SLC30A3ENSG00000115194ENST00000233535p.G89Gc.267G>ASubstitution - coding silent
LTBP1ENSG00000049323ENST00000407925p.P1170Pc.3510C>ASubstitution - coding silent
MRPL33ENSG00000243147ENST00000296102p.P48Lc.143C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.S3415Fc.10244C>TSubstitution - Missense
FEZ2ENSG00000171055ENST00000405912p.?c.1046-4C>TUnknown
MUC4ENSG00000145113ENST00000463781p.V2787Lc.8359G>CSubstitution - Missense
ENST00000405167p.V2787Lc.8359G>CSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T2399Ic.7196C>TSubstitution - Missense
ENST00000405167p.T2367Ic.7100C>TSubstitution - Missense
SLC4A7ENSG00000033867ENST00000295736p.P1109Pc.3327C>TSubstitution - coding silent
SLC4A7ENSG00000033867ENST00000455077p.P990Pc.2970C>TSubstitution - coding silent
FRAS1ENSG00000138759ENST00000264895p.?c.9505-5C>TUnknown
FRAS1ENSG00000138759ENST00000264895p.?c.9505-5C>TUnknown
SEC24BENSG00000138802ENST00000265175p.E1239Ec.3717A>GSubstitution - coding silent
ARHGEF38ENSG00000236699ENST00000265154p.M1Ic.3G>ASubstitution - Missense
ARHGAP24ENSG00000138639ENST00000264343p.P277Lc.830C>TSubstitution - Missense
AGPAT9ENSG00000138678ENST00000395226p.G8Ec.23G>ASubstitution - Missense
NRG1ENSG00000157168ENST00000521670p.G119Ec.356G>ASubstitution - Missense
NRG1ENSG00000157168ENST00000520407p.G334Ec.1001G>ASubstitution - Missense
GRM8ENSG00000179603ENST00000339582p.I209Ic.627C>TSubstitution - coding silent
INSL4ENSG00000120211ENST00000239316p.E27Gc.80A>GSubstitution - Missense
OR13J1ENSG00000168828ENST00000377981p.P58Sc.172C>TSubstitution - Missense
MAMDC2ENSG00000165072ENST00000377182p.?c.34+10G>AUnknown
SLMAPENSG00000163681ENST00000295951p.T390Ac.1168A>GSubstitution - Missense
CACNA2D3ENSG00000157445ENST00000474759p.?c.1912+7T>CUnknown
ITIH3ENSG00000162267ENST00000449956p.T238Tc.714C>ASubstitution - coding silent
ENST00000398670p.T238Tc.714C>ASubstitution - coding silent
MAGI1ENSG00000151276ENST00000402939p.E246Kc.736G>ASubstitution - Missense
MAGI1ENSG00000151276ENST00000330909p.E246Kc.736G>ASubstitution - Missense
MAGI1ENSG00000151276ENST00000483466p.E246Kc.736G>ASubstitution - Missense
AF381545.1p.F545Vc.1633T>GSubstitution - Missense
LRIG1ENSG00000144749ENST00000383703p.F569Vc.1705T>GSubstitution - Missense
R3HCC1ENSG00000104679ENST00000265806p.P61Sc.181C>TSubstitution - Missense
RAD54BENSG00000197275ENST00000336148p.V286Lc.856G>CSubstitution - Missense
TBC1D2ENSG00000095383ENST00000375066p.E876Kc.2626G>ASubstitution - Missense
TBC1D2ENSG00000095383ENST00000375063p.E427Kc.1279G>ASubstitution - Missense
TSTD2ENSG00000136925ENST00000341170p.V402Lc.1204G>CSubstitution - Missense
CCDC47ENSG00000108588ENST00000225726p.P381Lc.1142C>TSubstitution - Missense
TLK2ENSG00000146872ENST00000326270p.Q60*c.178C>TSubstitution - Nonsense
NOS2ENSG00000007171ENST00000313735p.R510Kc.1529G>ASubstitution - Missense
RNF213ENSG00000173821ENST00000456466p.D813Nc.2437G>ASubstitution - Missense
EMILIN2ENSG00000132205ENST00000254528p.A324Ac.972C>TSubstitution - coding silent
EMILIN2ENSG00000132205ENST00000254528p.L325Lc.973C>TSubstitution - coding silent
LAMA3ENSG00000053747ENST00000269217p.?c.4383+5G>AUnknown
LAMA3ENSG00000053747ENST00000313654p.?c.9210+5G>AUnknown
FHOD3ENSG00000134775ENST00000257209p.S957Sc.2871C>TSubstitution - coding silent
UMODL1ENSG00000177398ENST00000408989p.P521Lc.1562C>TSubstitution - Missense
ENST00000360228_v70p.E1031Ec.3093G>ASubstitution - coding silent
TRPM2ENSG00000142185ENST00000397928p.V500Vc.1500G>ASubstitution - coding silent
ABCG1ENSG00000160179ENST00000398457p.Q622*c.1864C>TSubstitution - Nonsense
ABCG1ENSG00000160179ENST00000398437p.Q778*c.2332C>TSubstitution - Nonsense
RIPK4ENSG00000183421ENST00000332512p.P252Lc.755C>TSubstitution - Missense
RIPK4ENSG00000183421ENST00000352483p.P252Lc.755C>TSubstitution - Missense
RIPK4ENSG00000183421ENST00000332512p.P252Sc.754C>TSubstitution - Missense
FTCDENSG00000160282ENST00000397746p.?c.54+8C>TUnknown
FTCDENSG00000160282ENST00000397748p.?c.54+8C>TUnknown
SEMA4CENSG00000168758ENST00000305476p.?c.259-10C>TUnknown
ANKRD36CENSG00000174501ENST00000456556p.?c.1264+4A>GUnknown
DUSP2ENSG00000158050ENST00000288943p.S295Sc.885C>TSubstitution - coding silent
SRGAP3ENSG00000196220ENST00000383836p.A1080Vc.3239C>TSubstitution - Missense
CADM2ENSG00000175161ENST00000405615p.Q25Lc.74A>TSubstitution - Missense
CADM2ENSG00000175161ENST00000405615p.G254Ec.761G>ASubstitution - Missense
CADM2ENSG00000175161ENST00000383699p.G261Ec.782G>ASubstitution - Missense
NM_032217.3p.T1774Ic.5321C>TSubstitution - Missense
TNS4ENSG00000131746ENST00000254051p.?c.1980-7C>TUnknown
KRTAP9-1ENSG00000240542ENST00000398470p.P165Qc.494C>ASubstitution - Missense
KRTAP9-1ENSG00000240542ENST00000398470p.P165Qc.494C>ASubstitution - Missense
KCNE1ENSG00000180509ENST00000399284p.V47Ic.139G>ASubstitution - Missense
SONENSG00000159140ENST00000356577p.P1159Sc.3475C>TSubstitution - Missense
SONENSG00000159140ENST00000300278p.P1159Sc.3475C>TSubstitution - Missense
TIAM1ENSG00000156299ENST00000286827p.L922Lc.2766C>TSubstitution - coding silent
KLF3ENSG00000109787ENST00000261438p.G56Rc.166G>ASubstitution - Missense
GABRG1ENSG00000163285ENST00000295452p.S288Fc.863C>TSubstitution - Missense
LYARENSG00000145220ENST00000343470p.A233Tc.697G>ASubstitution - Missense
BSNENSG00000164061ENST00000296452p.P3495Lc.10484C>TSubstitution - Missense
BSNENSG00000164061ENST00000296452p.P3689Lc.11066C>TSubstitution - Missense
ENST00000273600p.R939Cc.2815C>TSubstitution - Missense
MGAMENSG00000257335ENST00000549489p.G1014Ec.3041G>ASubstitution - Missense
HIPK2ENSG00000064393ENST00000406875p.T1022Nc.3065C>ASubstitution - Missense
TRPV6ENSG00000165125ENST00000359396p.G287Gc.861G>ASubstitution - coding silent
TRPV6ENSG00000165125ENST00000359396p.H165Rc.494A>GSubstitution - Missense
MGAMENSG00000257335ENST00000549489p.E1324Kc.3970G>ASubstitution - Missense
MGAMENSG00000257335ENST00000549489p.D1438Nc.4312G>ASubstitution - Missense
USP10ENSG00000103194ENST00000219473p.L384Lc.1152T>CSubstitution - coding silent
ABI3ENSG00000108798ENST00000225941p.P358Sc.1072C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S1882Fc.5645C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.D6117Nc.18349G>ASubstitution - Missense
ENST00000331986p.D1750Nc.5248G>ASubstitution - Missense
EME1ENSG00000154920ENST00000338165p.Q422Hc.1266G>TSubstitution - Missense
MYCBPAPENSG00000136449ENST00000323776p.E883Kc.2647G>ASubstitution - Missense
NM_032133.2p.E846Kc.2536G>ASubstitution - Missense
TTNENSG00000155657ENST00000360870p.D4798Nc.14392G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.E5154Kc.15460G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.?c.1245+10G>AUnknown
ENST00000356127p.?c.1245+10G>AUnknown
TTNENSG00000155657ENST00000342992p.S2559Sc.7677T>ASubstitution - coding silent
ENST00000356127p.S2559Sc.7677T>ASubstitution - coding silent
TTNENSG00000155657ENST00000342175p.S2513Sc.7539T>ASubstitution - coding silent
ZDBF2ENSG00000204186ENST00000374423p.R2085Mc.6254G>TSubstitution - Missense
ABCA12ENSG00000144452ENST00000272895p.P1288Lc.3863C>TSubstitution - Missense
CPS1ENSG00000021826ENST00000233072p.L390Lc.1168C>TSubstitution - coding silent
DEFB1ENSG00000164825ENST00000297439p.?c.62-1G>AUnknown
RP1ENSG00000104237ENST00000220676p.P925Sc.2773C>TSubstitution - Missense
RP1ENSG00000104237ENST00000220676p.V1249Vc.3747C>TSubstitution - coding silent
COPS5ENSG00000121022ENST00000357849p.G102Vc.305G>TSubstitution - Missense
TLR7ENSG00000196664ENST00000380659p.S550Fc.1649C>TSubstitution - Missense
ELF4ENSG00000102034ENST00000335997p.P196Lc.587C>TSubstitution - Missense
TENM1ENSG00000009694ENST00000371130p.?c.2078-7C>TUnknown
GRIA3ENSG00000125675ENST00000371256p.L583Lc.1749G>ASubstitution - coding silent
MISPENSG00000099812ENST00000215582p.A206Ac.618G>ASubstitution - coding silent
C3ENSG00000125730ENST00000245907p.G310Rc.928G>ASubstitution - Missense
ENST00000359590p.I205Ic.615C>TSubstitution - coding silent
ENST00000215591p.L653Lc.1959G>TSubstitution - coding silent
POLRMTENSG00000099821ENST00000588649p.L668Lc.2004G>TSubstitution - coding silent
ARHGAP36ENSG00000147256ENST00000276211p.T343Tc.1029C>TSubstitution - coding silent
IGSF1ENSG00000147255ENST00000361420p.A1250Sc.3748G>TSubstitution - Missense
IGSF1ENSG00000147255ENST00000361420p.E1057Kc.3169G>ASubstitution - Missense
ENST00000331986p.K7141Kc.21423G>ASubstitution - coding silent
ADAMTS10ENSG00000142303ENST00000270328p.G545Vc.1634G>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.E9908Kc.29722G>ASubstitution - Missense
R3HDM4ENSG00000198858ENST00000361574p.S233Lc.698C>TSubstitution - Missense
IL1RAPL2ENSG00000189108ENST00000372582p.V11Vc.33C>TSubstitution - coding silent
TCEAL7ENSG00000182916ENST00000332431p.E65Ec.195G>ASubstitution - coding silent
GLRA4ENSG00000188828ENST00000372617p.A402Ac.1206C>TSubstitution - coding silent
TRMT2BENSG00000188917ENST00000545398p.H246Nc.736C>ASubstitution - Missense
GUCY2FENSG00000101890ENST00000218006p.G815Ec.2444G>ASubstitution - Missense
SMCR8ENSG00000176994ENST00000406438p.H343Hc.1029C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000455263p.P27Lc.80C>TSubstitution - Missense
MGAT5BENSG00000167889ENST00000428789p.P442Sc.1324C>TSubstitution - Missense
MGAT5BENSG00000167889ENST00000301618p.P431Sc.1291C>TSubstitution - Missense
LMNB2ENSG00000176619ENST00000582871p.R284Cc.850C>TSubstitution - Missense
MIER2ENSG00000105556ENST00000264819p.P366Qc.1097C>ASubstitution - Missense
NM_020856.1p.L381Lc.1143G>ASubstitution - coding silent
MYBPC2ENSG00000086967ENST00000357701p.P730Sc.2188C>TSubstitution - Missense
MYH14ENSG00000105357ENST00000262269p.L1821Lc.5463C>TSubstitution - coding silent
CPT1CENSG00000169169ENST00000323446p.K86Kc.258G>ASubstitution - coding silent
LILRA4ENSG00000239961ENST00000291759p.S306Sc.918G>TSubstitution - coding silent
LILRA2ENSG00000239998ENST00000251376p.G137Gc.411G>ASubstitution - coding silent
SIGLEC7ENSG00000168995ENST00000317643p.C46Rc.136T>CSubstitution - Missense
RBL1ENSG00000080839ENST00000373664p.S919Fc.2756C>TSubstitution - Missense
CDH26ENSG00000124215ENST00000244047p.S140Lc.419C>TSubstitution - Missense
NM_080674.1p.I271Ic.813C>TSubstitution - coding silent
FSCN3ENSG00000106328ENST00000265825p.R394Cc.1180C>TSubstitution - Missense
VWDEENSG00000146530ENST00000275358p.?c.244-10C>TUnknown
VWDEENSG00000146530ENST00000326715p.?c.244-10C>TUnknown
PTPRZ1ENSG00000106278ENST00000393386p.E304Kc.910G>ASubstitution - Missense
CADPS2ENSG00000081803ENST00000449022p.I476Ic.1428C>TSubstitution - coding silent
LRRC43ENSG00000158113ENST00000339777p.T80Tc.240G>ASubstitution - coding silent
VPS13DENSG00000048707ENST00000358136p.Y3023Yc.9069T>CSubstitution - coding silent
SYCP1ENSG00000198765ENST00000369518p.V643Vc.1929C>TSubstitution - coding silent
RPTNENSG00000215853ENST00000316073p.S509Fc.1526C>TSubstitution - Missense
POGZENSG00000143442ENST00000491586p.V1195Ac.3584T>CSubstitution - Missense
ECM1ENSG00000143369ENST00000369047p.P301Pc.903T>GSubstitution - coding silent
EHD4ENSG00000103966ENST00000220325p.F274Fc.822C>TSubstitution - coding silent
DUSP27ENSG00000198842ENST00000361200p.V609Vc.1827G>ASubstitution - coding silent
POU2F1ENSG00000143190ENST00000367862p.G330Ec.989G>ASubstitution - Missense
S100A11ENSG00000163191ENST00000271638p.P100Ac.298C>GSubstitution - Missense
TMEM62ENSG00000137842ENST00000260403p.S346Sc.1038C>TSubstitution - coding silent
SORDENSG00000140263ENST00000267814p.A218Ac.654T>CSubstitution - coding silent
NM_207581.1p.E109Gc.326A>GSubstitution - Missense
ACOT11ENSG00000162390ENST00000371316p.R28Cc.82C>TSubstitution - Missense
ACOT11ENSG00000162390ENST00000343744p.R28Cc.82C>TSubstitution - Missense
RHPN2ENSG00000131941ENST00000400226p.G397Sc.1189G>ASubstitution - Missense
CACNA1CENSG00000151067ENST00000347598p.?c.2224+1G>AUnknown
CACNA1CENSG00000151067ENST00000399617p.?c.2224+1G>AUnknown
CACNA1CENSG00000151067ENST00000402845p.?c.2314+1G>AUnknown
ENST00000322367p.?c.829+1G>AUnknown
CACNA1CENSG00000151067ENST00000344100p.S916Fc.2747C>TSubstitution - Missense
CACNA1CENSG00000151067ENST00000402845p.S946Fc.2837C>TSubstitution - Missense
SLC6A13ENSG00000010379ENST00000343164p.I223Ic.669C>TSubstitution - coding silent
THBS3ENSG00000169231ENST00000368378p.P282Pc.846C>TSubstitution - coding silent
YY1AP1ENSG00000163374ENST00000295566p.P774Lc.2321C>TSubstitution - Missense
NFASCENSG00000163531ENST00000360049p.I795Ic.2385C>TSubstitution - coding silent
SCG3ENSG00000104112ENST00000220478p.G426Rc.1276G>ASubstitution - Missense
NFASCENSG00000163531ENST00000339876p.R260Cc.778C>TSubstitution - Missense
FAM181BENSG00000182103ENST00000329203p.S405Fc.1214C>TSubstitution - Missense
UNC13CENSG00000137766ENST00000260323p.R1039Cc.3115C>TSubstitution - Missense
EEDENSG00000074266ENST00000263360p.?c.1200-6C>TUnknown
ENST00000280576p.T1718Mc.5153C>TSubstitution - Missense
DNAH10ENSG00000197653ENST00000409039p.I887Ic.2661C>TSubstitution - coding silent
DNAH10ENSG00000197653ENST00000409039p.T3126Mc.9377C>TSubstitution - Missense
C12orf65ENSG00000130921ENST00000253233p.L155Fc.463C>TSubstitution - Missense
FAT3ENSG00000165323ENST00000298047p.V856Vc.2568C>TSubstitution - coding silent
PRAMEF6ENSG00000232423ENST00000355096p.R140Kc.419G>ASubstitution - Missense
PRAMEF14ENSG00000204481ENST00000344998p.E368Dc.1104G>TSubstitution - Missense
DHX37ENSG00000150990ENST00000308736p.L571Lc.1711C>TSubstitution - coding silent
TMEM132BENSG00000139364ENST00000299308p.G628Rc.1882G>ASubstitution - Missense
OR2M3ENSG00000228198ENST00000456743p.S6Sc.18G>ASubstitution - coding silent
PHACTR4ENSG00000204138ENST00000373836p.P273Sc.817C>TSubstitution - Missense
AHDC1ENSG00000126705ENST00000247087p.S896Sc.2688C>TSubstitution - coding silent
WDR78ENSG00000152763ENST00000371026p.E772Ec.2316G>ASubstitution - coding silent
LEPRENSG00000116678ENST00000344610p.L576*c.1727T>ASubstitution - Nonsense
TM2D1ENSG00000162604ENST00000371180p.G51Ec.152G>ASubstitution - Missense
PIGKENSG00000142892ENST00000370812p.E125Kc.373G>ASubstitution - Missense
FERMT2ENSG00000073712ENST00000395631p.L63Fc.187C>TSubstitution - Missense
KCNH5ENSG00000140015ENST00000322893p.K714*c.2140A>TSubstitution - Nonsense
UNC79ENSG00000133958ENST00000553484p.S884Gc.2650A>GSubstitution - Missense
SYNE3ENSG00000176438ENST00000334258p.G82Gc.246G>TSubstitution - coding silent
SYNE3ENSG00000176438ENST00000334258p.G82Gc.246G>TSubstitution - coding silent
IQCHENSG00000103599ENST00000512104p.F103Fc.309C>TSubstitution - coding silent
ITGA11ENSG00000137809ENST00000315757p.P1124Pc.3372C>ASubstitution - coding silent
DENND4AENSG00000174485ENST00000443035p.P757Sc.2269C>TSubstitution - Missense
DPYDENSG00000188641ENST00000370192p.L451Fc.1353G>TSubstitution - Missense
MYO16ENSG00000041515ENST00000357550p.?c.551-7C>TUnknown
MYO16ENSG00000041515ENST00000357550p.?c.551-6C>TUnknown
RYR3ENSG00000198838ENST00000389232p.K4380delKc.13136_13138delAGADeletion - In frame
ATP12AENSG00000075673ENST00000381946p.S794Sc.2382C>TSubstitution - coding silent
NIPBLENSG00000164190ENST00000282516p.A342Ec.1025C>ASubstitution - Missense
WDR59ENSG00000103091ENST00000262144p.S502Fc.1505C>TSubstitution - Missense
MSLNENSG00000102854ENST00000382862p.?c.896-6C>TUnknown
WNT3ENSG00000108379ENST00000225512p.C315Sc.943T>ASubstitution - Missense
ADAMTS20ENSG00000173157ENST00000389420p.P678Lc.2033C>TSubstitution - Missense
FRYENSG00000073910ENST00000380217p.?c.15+1delgUnknown
SELEENSG00000007908ENST00000333360p.P233Lc.698C>TSubstitution - Missense
CROCCENSG00000058453ENST00000375541p.A237Ac.711C>ASubstitution - coding silent
CROCCENSG00000058453ENST00000375541p.T1757Ic.5270C>TSubstitution - Missense
TP73ENSG00000078900ENST00000378295p.G44Rc.130G>ASubstitution - Missense
PRDM16ENSG00000142611ENST00000270722p.R950Qc.2849G>ASubstitution - Missense
NPAP1ENSG00000185823ENST00000329468p.E170Kc.508G>ASubstitution - Missense
GRIK3ENSG00000163873ENST00000373091p.K720Kc.2160G>ASubstitution - coding silent
AGO1ENSG00000092847ENST00000373204p.L465Fc.1393C>TSubstitution - Missense
NM_004667.3p.P1560Sc.4678C>TSubstitution - Missense
PVRL4ENSG00000143217ENST00000368012p.S322Cc.965C>GSubstitution - Missense
PPOXENSG00000143224ENST00000352210p.S119Sc.357A>CSubstitution - coding silent
DUSP8ENSG00000184545ENST00000397374p.P281Pc.843G>ASubstitution - coding silent
SEC16BENSG00000120341ENST00000308284p.R1049Cc.3145C>TSubstitution - Missense
E2F8ENSG00000129173ENST00000250024p.R588Rc.1764G>ASubstitution - coding silent
CACNA1EENSG00000198216ENST00000367570p.?c.1172-7C>TUnknown
STX6ENSG00000135823ENST00000258301p.P35Pc.105C>TSubstitution - coding silent
STX6ENSG00000135823ENST00000258301p.P35Rc.104C>GSubstitution - Missense
CACNA1EENSG00000198216ENST00000367573p.R25Rc.73C>ASubstitution - coding silent
BRINP2ENSG00000198797ENST00000361539p.E429Kc.1285G>ASubstitution - Missense
TRMT1LENSG00000121486ENST00000367506p.N350Tc.1049A>CSubstitution - Missense
TRMT1LENSG00000121486ENST00000367504p.N194Tc.581A>CSubstitution - Missense
LAMC2ENSG00000058085ENST00000264144p.R1177Rc.3531G>ASubstitution - coding silent
MPZL2ENSG00000149573ENST00000278937p.P54Pc.162T>CSubstitution - coding silent
MFRPENSG00000235718ENST00000555262p.?c.976-4C>TUnknown
PDZD3ENSG00000172367ENST00000322712p.P477Sc.1429C>TSubstitution - Missense
PDZD3ENSG00000172367ENST00000531114p.P557Sc.1669C>TSubstitution - Missense
NPATENSG00000149308ENST00000278612p.P910Pc.2730A>GSubstitution - coding silent
LUZP2ENSG00000187398ENST00000336930p.F218Fc.654C>TSubstitution - coding silent
BTG4ENSG00000137707ENST00000356018p.R186Cc.556C>TSubstitution - Missense
SARSENSG00000031698ENST00000234677p.?c.448-6C>TUnknown
TELO2ENSG00000100726ENST00000262319p.P643Sc.1927C>TSubstitution - Missense
CRB1ENSG00000134376ENST00000367400p.E677Kc.2029G>ASubstitution - Missense
KCNT2ENSG00000162687ENST00000294725p.G89Ec.266G>ASubstitution - Missense
KCNT2ENSG00000162687ENST00000294725p.P1087Sc.3259C>TSubstitution - Missense
TMC5ENSG00000103534ENST00000396229p.R25Cc.73C>TSubstitution - Missense
NOMO2ENSG00000185164ENST00000330537p.R418Rc.1254C>TSubstitution - coding silent
SLC39A12ENSG00000148482ENST00000377369p.E296Kc.886G>ASubstitution - Missense
OLAHENSG00000152463ENST00000378225p.K65Tc.194A>CSubstitution - Missense
FAM171A1ENSG00000148468ENST00000378116p.L788Lc.2364C>TSubstitution - coding silent
APBB1IPENSG00000077420ENST00000376236p.E223Kc.667G>ASubstitution - Missense
NM_020824.2p.?c.3783+9T>GUnknown
VIPAS39ENSG00000151445ENST00000343765p.L371Lc.1111C>TSubstitution - coding silent
IFT43ENSG00000119650ENST00000238628p.?c.311-8C>TUnknown
SU_SK473p.P285Pc.855G>ASubstitution - coding silent
CIITAENSG00000179583ENST00000324288p.G239Rc.715G>ASubstitution - Missense
SYNMENSG00000182253ENST00000336292p.K885Kc.2655G>ASubstitution - coding silent
SYNMENSG00000182253ENST00000328642p.K885Kc.2655G>ASubstitution - coding silent
PRKG1ENSG00000185532ENST00000373980p.I264Vc.790A>GSubstitution - Missense
PYGMENSG00000068976ENST00000164139p.G205Sc.613G>ASubstitution - Missense
CCDC88BENSG00000168071ENST00000356786p.G688Rc.2062G>ASubstitution - Missense
SMPD1ENSG00000166311ENST00000342245p.A40Vc.119C>TSubstitution - Missense
SMPD1ENSG00000166311ENST00000299397p.A40Vc.119C>TSubstitution - Missense
MUS81ENSG00000172732ENST00000308110p.P152Sc.454C>TSubstitution - Missense
MUS81ENSG00000172732ENST00000308110p.P152Sc.454C>TSubstitution - Missense
PPIEENSG00000084072ENST00000324379p.P194Sc.580C>TSubstitution - Missense
PPIEENSG00000084072ENST00000356511p.P194Sc.580C>TSubstitution - Missense
RPLP0ENSG00000089157ENST00000392514p.D308Dc.924C>TSubstitution - coding silent
SU_CRIKp.P1283Sc.3847C>TSubstitution - Missense
TAOK3ENSG00000135090ENST00000419821p.C257Fc.770G>TSubstitution - Missense
PRB2ENSG00000121335ENST00000389362p.G157Rc.469G>ASubstitution - Missense
SLC22A15ENSG00000163393ENST00000369503p.L304Lc.910C>TSubstitution - coding silent
SLC22A15ENSG00000163393ENST00000369503p.L304Lc.910C>TSubstitution - coding silent
PITRM1ENSG00000107959ENST00000451104p.S203Sc.609C>TSubstitution - coding silent
PITRM1ENSG00000107959ENST00000380989p.S235Sc.705C>TSubstitution - coding silent
KIAA1462ENSG00000165757ENST00000375377p.S859_E860insSSSc.2558_2559insTAGCAGCAGInsertion - In frame
BROXENSG00000162819ENST00000340934p.C267Cc.801C>TSubstitution - coding silent
CELA3BENSG00000219073ENST00000337107p.P152Lc.455C>TSubstitution - Missense
RAP1GAPENSG00000076864ENST00000374761p.P182Sc.544C>TSubstitution - Missense
DNAH14ENSG00000185842ENST00000430092p.F3256Fc.9768C>TSubstitution - coding silent
ITIH5ENSG00000123243ENST00000256861p.E723Kc.2167G>ASubstitution - Missense
SEC24CENSG00000176986ENST00000345254p.Q1042Qc.3126G>ASubstitution - coding silent
PANK1ENSG00000152782ENST00000307534p.V67Lc.199G>TSubstitution - Missense
MYOFENSG00000138119ENST00000359263p.R781Rc.2343G>ASubstitution - coding silent
MUC5BENSG00000117983ENST00000529681p.E963Kc.2887G>ASubstitution - Missense
ENST00000278934p.G643Sc.1927G>ASubstitution - Missense
DGKZENSG00000149091ENST00000421244p.E228Kc.682G>ASubstitution - Missense
SLC35C1ENSG00000181830ENST00000314134p.?c.536-10C>TUnknown
TRIM21ENSG00000132109ENST00000254436p.E352Gc.1055A>GSubstitution - Missense
MYBPC3ENSG00000134571ENST00000399249p.G690Gc.2070G>ASubstitution - coding silent
PHF21AENSG00000135365ENST00000418153p.L62Lc.184C>TSubstitution - coding silent
PHF21AENSG00000135365ENST00000323180p.L62Lc.184C>TSubstitution - coding silent
BCANENSG00000132692ENST00000361588p.T623Ic.1868C>TSubstitution - Missense
ENST00000356215_v68p.G16Ec.47G>ASubstitution - Missense
ENSG00000197301ENST00000356215p.G16Ec.47G>ASubstitution - Missense
ENST00000356215_v68p.G16Rc.46G>ASubstitution - Missense
ENSG00000197301ENST00000356215p.G16Rc.46G>ASubstitution - Missense
METTL21BENSG00000123427ENST00000333012p.D107Dc.321C>TSubstitution - coding silent
OTOGLENSG00000165899ENST00000298820p.Q261Rc.782A>GSubstitution - Missense
OTOGLENSG00000165899ENST00000458043p.Q183Qc.549A>GSubstitution - coding silent
PIK3C2GENSG00000139144ENST00000433979p.D890Nc.2668G>ASubstitution - Missense
ABCC9ENSG00000069431ENST00000261200p.N1025Dc.3073A>GSubstitution - Missense
ABCC9ENSG00000069431ENST00000261201p.N1025Dc.3073A>GSubstitution - Missense
SCN8AENSG00000196876ENST00000354534p.A528Ac.1584C>TSubstitution - coding silent
AGBL1ENSG00000166748ENST00000421325p.L392Lc.1174C>TSubstitution - coding silent
GDPD5ENSG00000158555ENST00000336898p.S156Fc.467C>TSubstitution - Missense
KCNE3ENSG00000175538ENST00000310128p.R99Hc.296G>ASubstitution - Missense
GAB2ENSG00000033327ENST00000361507p.I115Ic.345C>TSubstitution - coding silent
NARS2ENSG00000137513ENST00000281038p.R451Cc.1351C>TSubstitution - Missense
OR5P3ENSG00000182334ENST00000328375p.T268Ac.802A>GSubstitution - Missense
PAK1ENSG00000149269ENST00000278568p.P73Lc.218C>TSubstitution - Missense
ALG8ENSG00000159063ENST00000299626p.S416Fc.1247C>TSubstitution - Missense
XRRA1ENSG00000166435ENST00000340360p.?c.328-7C>TUnknown
GDPD5ENSG00000158555ENST00000336898p.S156Sc.468C>TSubstitution - coding silent
MKI67ENSG00000148773ENST00000368654p.G201Vc.602G>TSubstitution - Missense
C14orf80ENSG00000185347ENST00000392522p.F58Fc.174C>TSubstitution - coding silent
GPR132ENSG00000183484ENST00000329797p.E181Kc.541G>ASubstitution - Missense
CHD8ENSG00000100888ENST00000430710p.T1860Tc.5580C>TSubstitution - coding silent
CHD8ENSG00000100888ENST00000399982p.T2139Ic.6416C>TSubstitution - Missense
ARHGEF40ENSG00000165801ENST00000298694p.L1402Fc.4204C>TSubstitution - Missense
PHRF1ENSG00000070047ENST00000416188p.E1265Qc.3793G>CSubstitution - Missense
VWCEENSG00000167992ENST00000335613p.F244Fc.732C>TSubstitution - coding silent
PRPF19ENSG00000110107ENST00000227524p.P19Sc.55C>TSubstitution - Missense
OR4D11ENSG00000176200ENST00000313253p.I157Ic.471C>TSubstitution - coding silent
DCHS1ENSG00000166341ENST00000299441p.G2203Ec.6608G>ASubstitution - Missense
CCER1ENSG00000197651ENST00000358859p.E342*c.1024G>TSubstitution - Nonsense
RYR2ENSG00000198626ENST00000366574p.I2789Ic.8367T>CSubstitution - coding silent
CNR2ENSG00000188822ENST00000374472p.I346Ic.1038C>TSubstitution - coding silent
CNR2ENSG00000188822ENST00000374472p.I346Ic.1038C>TSubstitution - coding silent
ATRNL1ENSG00000107518ENST00000355044p.G67Gc.201C>TSubstitution - coding silent
NLRP3ENSG00000162711ENST00000391828p.?c.2157-10T>CUnknown
ABCC2ENSG00000023839ENST00000370449p.S265Sc.795C>TSubstitution - coding silent
PDCD11ENSG00000148843ENST00000369797p.S1220Sc.3660C>TSubstitution - coding silent
GAS2L3ENSG00000139354ENST00000266754p.L605Mc.1813T>ASubstitution - Missense
KLRK1ENSG00000213809ENST00000240618p.?c.534-1G>AUnknown
ENST00000237841p.L294Fc.882G>CSubstitution - Missense
AMER2ENSG00000165566ENST00000357816p.G452Ec.1355G>ASubstitution - Missense
CTNNB1ENSG00000168036ENST00000349496p.S45delc.131_133delCTTDeletion - In frame
CDKN2AENSG00000147889ENST00000304494p.P48Lc.143C>TSubstitution - Missense
BRAFENSG00000157764ENST00000288602p.V600Ec.1799T>ASubstitution - Missense
PLCE1ENSG00000138193ENST00000260766p.R1495Qc.4484G>ASubstitution - Missense
DGKZENSG00000149091ENST00000343674p.E244Kc.730G>ASubstitution - Missense
ARHGAP25ENSG00000163219ENST00000409220p.F463Fc.1389C>TSubstitution - coding silent
CD226ENSG00000150637ENST00000280200p.E232Kc.694G>ASubstitution - Missense
MLIPENSG00000146147ENST00000274897p.D242Nc.724G>ASubstitution - Missense
OR52H1ENSG00000181616ENST00000322653p.E99Kc.295G>ASubstitution - Missense
NLRP4ENSG00000160505ENST00000301295p.E242Kc.724G>ASubstitution - Missense
SEMA3EENSG00000170381ENST00000307792p.R337*c.1009C>TSubstitution - Nonsense
NM_013264.2p.S157Sc.471C>TSubstitution - coding silent
TMEM184CENSG00000164168ENST00000296582p.G105Rc.313G>ASubstitution - Missense
ZNF98ENSG00000197360ENST00000357774p.F22Fc.66C>TSubstitution - coding silent
ZNF98ENSG00000197360ENST00000357774p.F22Fc.66C>TSubstitution - coding silent
NM_024963.2p.S381Sc.1143C>TSubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.M5107Ic.15321G>ASubstitution - Missense
SLCO6A1ENSG00000205359ENST00000379807p.G18Rc.52G>ASubstitution - Missense
GIMAP8ENSG00000171115ENST00000307271p.I458Ic.1374C>TSubstitution - coding silent
XIRP2ENSG00000163092ENST00000295237p.H2522Yc.7564C>TSubstitution - Missense
LAMB2ENSG00000172037ENST00000305544p.I1516Ic.4548C>TSubstitution - coding silent
ST8SIA3ENSG00000177511ENST00000324000p.F191Fc.573C>TSubstitution - coding silent
SLC5A5ENSG00000105641ENST00000222248p.P426Pc.1278C>TSubstitution - coding silent
NM_000828.2p.R333Qc.998G>ASubstitution - Missense
GRIA3ENSG00000125675ENST00000264357p.R333Qc.998G>ASubstitution - Missense
NLRP4ENSG00000160505ENST00000301295p.I219Ic.657C>TSubstitution - coding silent
TRPC3ENSG00000138741ENST00000264811p.R815Cc.2443C>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.E5607Kc.16819G>ASubstitution - Missense
ENST00000356127p.E11979Kc.35935G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.E5674Kc.17020G>ASubstitution - Missense
NM_003319p.E5482Kc.16444G>ASubstitution - Missense
ABCB5ENSG00000004846ENST00000443026p.R96*c.286C>TSubstitution - Nonsense
KANK1ENSG00000107104ENST00000382303p.I412Ic.1236C>TSubstitution - coding silent
KCNB2ENSG00000182674ENST00000523207p.T591Tc.1773C>TSubstitution - coding silent
PFDN5ENSG00000123349ENST00000551018p.L12Rc.35T>GSubstitution - Missense
EPS8L3ENSG00000198758ENST00000369805p.R562Hc.1685G>ASubstitution - Missense
CLEC3AENSG00000166509ENST00000575655p.D180Nc.538G>ASubstitution - Missense
NLRP4ENSG00000160505ENST00000587891p.I144Ic.432C>TSubstitution - coding silent
BRINP3ENSG00000162670ENST00000367462p.P287Lc.860C>TSubstitution - Missense
TRPC3ENSG00000138741ENST00000379645p.R888Cc.2662C>TSubstitution - Missense
ITGB5ENSG00000082781ENST00000296181p.K262Kc.786G>ASubstitution - coding silent
PLCE1ENSG00000138193ENST00000371375p.R1187Qc.3560G>ASubstitution - Missense
B3GALT1ENSG00000172318ENST00000392690p.M174Ic.522G>ASubstitution - Missense
ZNF223ENSG00000178386ENST00000434772p.S357Fc.1070C>TSubstitution - Missense
ZIM3ENSG00000141946ENST00000269834p.W262*c.786G>ASubstitution - Nonsense
BRINP3ENSG00000162670ENST00000367462p.P287Sc.859C>TSubstitution - Missense
IKBKEENSG00000143466ENST00000367120p.?c.1183+8G>AUnknown
EIF2DENSG00000143486ENST00000271764p.P567Sc.1699C>TSubstitution - Missense
ATRXENSG00000085224ENST00000373344p.L595Fc.1783C>TSubstitution - Missense
ATRXENSG00000085224ENST00000373344p.L595Fc.1783C>TSubstitution - Missense
EIF4G3ENSG00000075151ENST00000356916p.G29Ec.86G>ASubstitution - Missense
TMEM206ENSG00000065600ENST00000261455p.L203Fc.607C>TSubstitution - Missense
PFDN5ENSG00000123349ENST00000551018p.E27Kc.79G>ASubstitution - Missense
USH2AENSG00000042781ENST00000307340p.L2892Fc.8674C>TSubstitution - Missense
PAN2ENSG00000135473ENST00000440411p.P795Lc.2384C>TSubstitution - Missense
WIBGENSG00000170473ENST00000408946p.S139Fc.416C>TSubstitution - Missense
TBC1D21ENSG00000167139ENST00000300504p.?c.979-9C>TUnknown
STAT2ENSG00000170581ENST00000314128p.L203Fc.607C>TSubstitution - Missense
PEAK1ENSG00000173517ENST00000312493p.S1095Lc.3284C>TSubstitution - Missense
RCN2ENSG00000117906ENST00000394885p.E108Ec.324A>GSubstitution - coding silent
ATP7BENSG00000123191ENST00000242839p.D49Nc.145G>ASubstitution - Missense
TRPV4ENSG00000111199ENST00000261740p.R269Cc.805C>TSubstitution - Missense
BTBD11ENSG00000151136ENST00000280758p.P714Pc.2142C>TSubstitution - coding silent
CKAP4ENSG00000136026ENST00000378026p.T344Tc.1032G>ASubstitution - coding silent


COSMIC

0 mutations reported
0 synonymous mutations reported
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External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID