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MFM-223 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

734 mutations reported
233 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
TRERF1ENSG00000124496ENST00000541110p.Q843Qc.2529G>ASubstitution - coding silent
DYDC1ENSG00000170788ENST00000372202p.P153Sc.457C>TSubstitution - Missense
AGBL1ENSG00000166748ENST00000421325p.P248Tc.742C>ASubstitution - Missense
GCN1L1ENSG00000089154ENST00000300648p.E2164Qc.6490G>CSubstitution - Missense
CDAN1ENSG00000140326ENST00000356231p.R1104Kc.3311G>ASubstitution - Missense
TRIM46ENSG00000163462ENST00000334634p.Q349Qc.1047G>ASubstitution - coding silent
SLC45A3ENSG00000158715ENST00000367145p.G254Gc.762C>TSubstitution - coding silent
BARD1ENSG00000138376ENST00000260947p.S339Nc.1016G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.E2245Dc.6735G>CSubstitution - Missense
KRT38ENSG00000171360ENST00000246646p.K207Nc.621G>CSubstitution - Missense
ENST00000405167p.S1592Lc.4775C>TSubstitution - Missense
LRP5LENSG00000100068ENST00000402859p.E132Kc.394G>ASubstitution - Missense
RTKNENSG00000114993ENST00000305557p.E189Kc.565G>ASubstitution - Missense
SLC25A46ENSG00000164209ENST00000355943p.P50Tc.148C>ASubstitution - Missense
ACSL3ENSG00000123983ENST00000357430p.K126Qc.376A>CSubstitution - Missense
COPG1ENSG00000181789ENST00000314797p.D743Hc.2227G>CSubstitution - Missense
GFPT1ENSG00000198380ENST00000361060p.T447Ic.1340C>TSubstitution - Missense
FITM2ENSG00000197296ENST00000396825p.C251*c.753T>ASubstitution - Nonsense
DHRS9ENSG00000073737ENST00000432060p.I70Ic.210C>TSubstitution - coding silent
TTC8ENSG00000165533ENST00000338104p.K269Ec.805A>GSubstitution - Missense
FIBCD1ENSG00000130720ENST00000444139p.L150Lc.450G>CSubstitution - coding silent
SIRT2ENSG00000068903ENST00000249396p.A358Ac.1074G>ASubstitution - coding silent
CYP1A1ENSG00000140465ENST00000395048p.D150Nc.448G>ASubstitution - Missense
TLDC1ENSG00000140950ENST00000343629p.I355Ic.1065C>ASubstitution - coding silent
RAP1GDS1ENSG00000138698ENST00000453712p.Q37Ec.109C>GSubstitution - Missense
SLC26A5ENSG00000170615ENST00000306312p.L338Hc.1013T>ASubstitution - Missense
NCANENSG00000130287ENST00000252575p.V470Mc.1408G>ASubstitution - Missense
FBXO15ENSG00000141665ENST00000419743p.L447Lc.1341G>ASubstitution - coding silent
ZNF585AENSG00000196967ENST00000356958p.R458*c.1372C>TSubstitution - Nonsense
TRAF2ENSG00000127191ENST00000359662p.P17Sc.49C>TSubstitution - Missense
FAM115AENSG00000198420ENST00000355951p.A71Sc.211G>TSubstitution - Missense
SLC9A6ENSG00000198689ENST00000370695p.E56Kc.166G>ASubstitution - Missense
HPSE2ENSG00000172987ENST00000370552p.D159Dc.477T>CSubstitution - coding silent
CEP170ENSG00000143702ENST00000366542p.P180Pc.540G>ASubstitution - coding silent
SEMA6CENSG00000143434ENST00000341697p.W220Gc.658T>GSubstitution - Missense
RTN3ENSG00000133318ENST00000339997p.N120Nc.360C>TSubstitution - coding silent
EEDENSG00000074266ENST00000263360p.T158Tc.474G>ASubstitution - coding silent
PTK6ENSG00000101213ENST00000217185p.S86Sc.258G>ASubstitution - coding silent
PSMB10ENSG00000205220ENST00000358514p.N184Hc.550A>CSubstitution - Missense
SLC38A5ENSG00000017483ENST00000376876p.G224Cc.670G>TSubstitution - Missense
MDGA1ENSG00000112139ENST00000434837p.?c.2402-6C>TUnknown
SLC35A1ENSG00000164414ENST00000369552p.R138Qc.413G>ASubstitution - Missense
TBCBENSG00000105254ENST00000221855p.G240Rc.718G>ASubstitution - Missense
RGS22ENSG00000132554ENST00000360863p.E1069Kc.3205G>ASubstitution - Missense
PRRC2BENSG00000130723ENST00000357304p.R1217Kc.3650G>ASubstitution - Missense
RTCAENSG00000137996ENST00000260563p.?c.780-9C>AUnknown
ANO6ENSG00000177119ENST00000441606p.D867Hc.2599G>CSubstitution - Missense
SCNN1BENSG00000168447ENST00000343070p.S286Lc.857C>TSubstitution - Missense
IKZF4ENSG00000123411ENST00000262032p.D343Yc.1027G>TSubstitution - Missense
NTRK3ENSG00000140538ENST00000394480p.Q794Qc.2382G>ASubstitution - coding silent
MUC19ENSG00000205592ENST00000425730p.S688fs*8c.2061_2064delCAGTDeletion - Frameshift
C10orf40ENSG00000235931ENST00000521074p.D113Hc.337G>CSubstitution - Missense
ALDH6A1ENSG00000119711ENST00000553458p.M481Ic.1443G>ASubstitution - Missense
DDI1ENSG00000170967ENST00000302259p.Y245*c.735C>ASubstitution - Nonsense
PSMD7ENSG00000103035ENST00000219313p.C116Cc.348T>CSubstitution - coding silent
ATP6V1HENSG00000047249ENST00000359530p.H412Qc.1236C>ASubstitution - Missense
RBFOX1ENSG00000078328ENST00000550418p.?c.757+5G>AUnknown
SLC6A2ENSG00000103546ENST00000219833p.Y575Yc.1725T>CSubstitution - coding silent
DIP2AENSG00000160305ENST00000417564p.P1075Pc.3225G>ASubstitution - coding silent
ENST00000356127p.K20853Kc.62559G>ASubstitution - coding silent
CADENSG00000084774ENST00000264705p.L1201Lc.3601C>TSubstitution - coding silent
CD36ENSG00000135218ENST00000447544p.V401fs*4c.1202_1205delTATTDeletion - Frameshift
CD36ENSG00000135218ENST00000435819p.V401fs*4c.1202_1205delTATTDeletion - Frameshift
LDOC1LENSG00000188636ENST00000341255p.P102Pc.306C>TSubstitution - coding silent
SLCO2A1ENSG00000174640ENST00000310926p.D294Yc.880G>TSubstitution - Missense
BCL3ENSG00000069399ENST00000164227p.Q160Qc.480G>ASubstitution - coding silent
XRCC4ENSG00000152422ENST00000282268p.F96Ic.286T>ASubstitution - Missense
ENOSF1ENSG00000132199ENST00000340116p.R259Qc.776G>ASubstitution - Missense
MCF2ENSG00000101977ENST00000370578p.K572Rc.1715A>GSubstitution - Missense
ZKSCAN2ENSG00000155592ENST00000328086p.C892Yc.2675G>ASubstitution - Missense
MASP1ENSG00000127241ENST00000337774p.M63Lc.187A>TSubstitution - Missense
ATP11CENSG00000101974ENST00000370543p.E112Qc.334G>CSubstitution - Missense
RBM48ENSG00000127993ENST00000265732p.F113Fc.339C>TSubstitution - coding silent
CAPN9ENSG00000135773ENST00000271971p.?c.953+6G>TUnknown
SLKENSG00000065613ENST00000369755p.G167Ac.500G>CSubstitution - Missense
ENST00000321016_v61p.Q102*c.304C>TSubstitution - Nonsense
TEKT2ENSG00000092850ENST00000207457p.E407*c.1219G>TSubstitution - Nonsense
IFLTD1ENSG00000152936ENST00000282881p.F87Lc.261C>ASubstitution - Missense
DIRAS3ENSG00000162595ENST00000370981p.P209Pc.627C>TSubstitution - coding silent
PRAM1ENSG00000133246ENST00000423345p.P56_K57ins12c.164_165ins36Insertion - In frame
ACSS2ENSG00000131069ENST00000360596p.A595Gc.1784C>GSubstitution - Missense
DOPEY2ENSG00000142197ENST00000399151p.P473Pc.1419C>TSubstitution - coding silent
TIAM1ENSG00000156299ENST00000286827p.D852Ac.2555A>CSubstitution - Missense
FANCD2ENSG00000144554ENST00000419585p.E827Kc.2479G>ASubstitution - Missense
ZC3H18ENSG00000158545ENST00000301011p.E658Kc.1972G>ASubstitution - Missense
TRIM36ENSG00000152503ENST00000282369p.V71Vc.213G>TSubstitution - coding silent
ZNF776ENSG00000152443ENST00000317178p.S70Cc.209C>GSubstitution - Missense
SLC26A5ENSG00000170615ENST00000339444p.L338Hc.1013T>ASubstitution - Missense
MRPS18BENSG00000204568ENST00000259873p.?c.78+7C>TUnknown
RGS22ENSG00000132554ENST00000360863p.E1069Kc.3205G>ASubstitution - Missense
AXLENSG00000167601ENST00000359092p.R590Mc.1769G>TSubstitution - Missense
EMILIN3ENSG00000183798ENST00000332312p.R549Sc.1645C>ASubstitution - Missense
SLC45A1ENSG00000162426ENST00000377479p.V510Vc.1530G>TSubstitution - coding silent
PTPRSENSG00000105426ENST00000372412p.F1932Fc.5796C>TSubstitution - coding silent
PIGBENSG00000069943ENST00000164305p.S446Ic.1337G>TSubstitution - Missense
RBFOX1ENSG00000078328ENST00000547372p.?c.886+5G>AUnknown
FAM149AENSG00000109794ENST00000356371p.Q652Qc.1956A>GSubstitution - coding silent
NELFAENSG00000185049ENST00000382882p.E137Kc.409G>ASubstitution - Missense
GGT6ENSG00000167741ENST00000574154p.P265fs*12c.793_794insTCInsertion - Frameshift
GRIK4ENSG00000149403ENST00000527524p.W392Rc.1174T>CSubstitution - Missense
LIMA1ENSG00000050405ENST00000341247p.?c.972+5G>AUnknown
TMEM39BENSG00000121775ENST00000336294p.S23Lc.68C>TSubstitution - Missense
SLC22A24ENSG00000197658ENST00000326192p.C176Cc.528C>TSubstitution - coding silent
RNPC3ENSG00000185946ENST00000533099p.P35Rc.104C>GSubstitution - Missense
MFAP1ENSG00000140259ENST00000267812p.E143Dc.429G>CSubstitution - Missense
KDM5BENSG00000117139ENST00000367265p.E787Kc.2359G>ASubstitution - Missense
GLCEENSG00000138604ENST00000261858p.?c.830-9C>TUnknown
PAQR5ENSG00000137819ENST00000395407p.L50Lc.150C>GSubstitution - coding silent
MCF2LENSG00000126217ENST00000375601p.R411Qc.1232G>ASubstitution - Missense
C8orf34ENSG00000165084ENST00000518698p.L167Vc.499C>GSubstitution - Missense
PER2ENSG00000132326ENST00000254657p.C264Yc.791G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.K14550Kc.43650G>ASubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.R3900Hc.11699G>ASubstitution - Missense
BCORENSG00000183337ENST00000378444p.P394Sc.1180C>TSubstitution - Missense
CA5BENSG00000169239ENST00000318636p.F106Sc.317T>CSubstitution - Missense
SH2B1ENSG00000178188ENST00000322610p.E658Kc.1972G>ASubstitution - Missense
ITPR3ENSG00000096433ENST00000374316p.T2151Tc.6453C>ASubstitution - coding silent
MATN4ENSG00000124159ENST00000372756p.L88Vc.262C>GSubstitution - Missense
AGBL1ENSG00000166748ENST00000441037p.P248Tc.742C>ASubstitution - Missense
ZIC4ENSG00000174963ENST00000525172p.S341Lc.1022C>TSubstitution - Missense
ENST00000315286_v68p.E86*c.256G>TSubstitution - Nonsense
IGSF22ENSG00000179057ENST00000319338p.R450Cc.1348C>TSubstitution - Missense
ENST00000300576_v68p.?c.565-3C>GUnknown
HOMER2ENSG00000103942ENST00000304231p.R261Qc.782G>ASubstitution - Missense
KIF21AENSG00000139116ENST00000395670p.G288Gc.864C>TSubstitution - coding silent
BNIPLENSG00000163141ENST00000368931p.?c.720-5C>AUnknown
ARRDC4ENSG00000140450ENST00000268042p.S192Sc.576T>ASubstitution - coding silent
NUDT17ENSG00000186364ENST00000334513p.R141Qc.422G>ASubstitution - Missense
HIPK3ENSG00000110422ENST00000303296p.S913Ic.2738G>TSubstitution - Missense
TNRENSG00000116147ENST00000367674p.A529Gc.1586C>GSubstitution - Missense
NM_004855.3p.S446Ic.1337G>TSubstitution - Missense
TTC8ENSG00000165533ENST00000380656p.K253Ec.757A>GSubstitution - Missense
CHMP7ENSG00000147457ENST00000397677p.E207Ec.621G>ASubstitution - coding silent
FAM71F1ENSG00000135248ENST00000315184p.F189Lc.567C>GSubstitution - Missense
HIPK2ENSG00000064393ENST00000406875p.?c.1435-2A>TUnknown
KIF25ENSG00000125337ENST00000354419p.T203Tc.609G>CSubstitution - coding silent
SLC6A2ENSG00000103546ENST00000379906p.Y575Yc.1725T>CSubstitution - coding silent
CORO7ENSG00000262246ENST00000251166p.S334Sc.1002C>TSubstitution - coding silent
XDHENSG00000158125ENST00000379416p.V258Fc.772G>TSubstitution - Missense
ENPEPENSG00000138792ENST00000265162p.S68*c.203C>GSubstitution - Nonsense
HTRA2ENSG00000115317ENST00000258080p.?c.506+5_506+7deltggUnknown
ARSJENSG00000180801ENST00000315366p.N225Nc.675C>TSubstitution - coding silent
USP40ENSG00000085982ENST00000450966p.R1093Rc.3279G>ASubstitution - coding silent
MIOSENSG00000164654ENST00000405785p.R355Rc.1063A>CSubstitution - coding silent
CELSR1ENSG00000075275ENST00000262738p.E1730Dc.5190G>CSubstitution - Missense
CASRENSG00000036828ENST00000296154p.S53Sc.159A>GSubstitution - coding silent
ITPR1ENSG00000150995ENST00000357086p.E1387Qc.4159G>CSubstitution - Missense
TFAP2AENSG00000137203ENST00000379608p.T343Sc.1028C>GSubstitution - Missense
DCHS2ENSG00000197410ENST00000339452p.V777Vc.2331G>TSubstitution - coding silent
BCRENSG00000186716ENST00000305877p.V550Mc.1648G>ASubstitution - Missense
PIAS4ENSG00000105229ENST00000262971p.Y115Yc.345C>TSubstitution - coding silent
CAPN12ENSG00000182472ENST00000328867p.Y185*c.555C>GSubstitution - Nonsense
ENST00000344371p.R113Rc.337A>CSubstitution - coding silent
MASP1ENSG00000127241ENST00000296280p.M63Lc.187A>TSubstitution - Missense
DUOX1ENSG00000137857ENST00000561166p.R689Sc.2065C>ASubstitution - Missense
KCNK9ENSG00000169427ENST00000522317p.V13Vc.39C>GSubstitution - coding silent
HMCN1ENSG00000143341ENST00000271588p.R3669*c.11005C>TSubstitution - Nonsense
CAMK2GENSG00000148660ENST00000351293p.A296Gc.887C>GSubstitution - Missense
ADKENSG00000156110ENST00000286621p.T137Kc.410C>ASubstitution - Missense
NM_014903.3p.E1629Qc.4885G>CSubstitution - Missense
TTNENSG00000155657ENST00000359218p.K14483Kc.43449G>ASubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.T3423Nc.10268C>ASubstitution - Missense
XDHENSG00000158125ENST00000379416p.G503Vc.1508G>TSubstitution - Missense
ZNF134ENSG00000213762ENST00000396161p.R392Sc.1176A>CSubstitution - Missense
TRANK1ENSG00000168016ENST00000429976p.R2280Lc.6839G>TSubstitution - Missense
ABCA2ENSG00000107331ENST00000341511p.P1206Lc.3617C>TSubstitution - Missense
NCANENSG00000130287ENST00000252575p.V470Mc.1408G>ASubstitution - Missense
DCHS2ENSG00000197410ENST00000357232p.V183Vc.549G>TSubstitution - coding silent
MYO1GENSG00000136286ENST00000258787p.R155Cc.463C>TSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
INHBAENSG00000122641ENST00000242208p.H305Dc.913C>GSubstitution - Missense
GRIK5ENSG00000105737ENST00000262895p.G445Gc.1335C>TSubstitution - coding silent
SH2D3CENSG00000095370ENST00000314830p.E176Vc.527A>TSubstitution - Missense
SORCS2ENSG00000184985ENST00000507866p.D568Nc.1702G>ASubstitution - Missense
CCDC43ENSG00000180329ENST00000315286p.E86*c.256G>TSubstitution - Nonsense
DUOX1ENSG00000137857ENST00000389037p.R1043Sc.3127C>ASubstitution - Missense
MKI67ENSG00000148773ENST00000368654p.R1818Qc.5453G>ASubstitution - Missense
KIF21AENSG00000139116ENST00000361961p.G288Gc.864C>TSubstitution - coding silent
SWAP70ENSG00000133789ENST00000318950p.L255Lc.765C>GSubstitution - coding silent
FAM189A1ENSG00000104059ENST00000261275p.P432Pc.1296T>GSubstitution - coding silent
FAM122CENSG00000156500ENST00000370785p.L113Fc.339G>TSubstitution - Missense
AIFM1ENSG00000156709ENST00000287295p.S268Fc.803C>TSubstitution - Missense
AIFM1ENSG00000156709ENST00000319908p.S264Fc.791C>TSubstitution - Missense
ZNF20ENSG00000132010ENST00000334213p.C372Yc.1115G>ASubstitution - Missense
ATP8A1ENSG00000124406ENST00000381668p.G335Gc.1005T>CSubstitution - coding silent
BRAFENSG00000157764ENST00000288602p.L56Lc.168G>ASubstitution - coding silent
TRIM36ENSG00000152503ENST00000282369p.V71Ac.212T>CSubstitution - Missense
ADAM22ENSG00000008277ENST00000265727p.Q484*c.1450C>TSubstitution - Nonsense
SLC26A5ENSG00000170615ENST00000393735p.L338Hc.1013T>ASubstitution - Missense
STRN4ENSG00000090372ENST00000263280p.D385Dc.1155C>TSubstitution - coding silent
TRERF1ENSG00000124496ENST00000372922p.Q823Qc.2469G>ASubstitution - coding silent
FCHO1ENSG00000130475ENST00000252771p.?c.1260-6C>GUnknown
TGFB1ENSG00000105329ENST00000221930p.S138Lc.413C>TSubstitution - Missense
PIGTENSG00000124155ENST00000279036p.R209Gc.625C>GSubstitution - Missense
KCNMA1ENSG00000156113ENST00000354353p.Y592Hc.1774T>CSubstitution - Missense
KIF21BENSG00000116852ENST00000422435p.Q1414Ec.4240C>GSubstitution - Missense
SEMA6CENSG00000143434ENST00000368913p.?c.548-4C>AUnknown
TP53ENSG00000141510ENST00000269305p.K132Rc.395A>GSubstitution - Missense
ARHGAP29ENSG00000137962ENST00000260526p.S36Fc.107C>TSubstitution - Missense
DISP1ENSG00000154309ENST00000284476p.P189Lc.566C>TSubstitution - Missense
NID1ENSG00000116962ENST00000264187p.C414Gc.1240T>GSubstitution - Missense
CADM3ENSG00000162706ENST00000368124p.D327Vc.980A>TSubstitution - Missense
LUMENSG00000139329ENST00000266718p.L166Fc.496C>TSubstitution - Missense
KCNQ4ENSG00000117013ENST00000347132p.R359Wc.1075C>TSubstitution - Missense
OR2M2ENSG00000198601ENST00000359682p.F164fs*17c.489_490insGInsertion - Frameshift
NM_005870.3p.S5Sc.15G>CSubstitution - coding silent
GABBR2ENSG00000136928ENST00000259455p.?c.2660+9C>TUnknown
RHOAENSG00000067560ENST00000418115p.T19Kc.56C>ASubstitution - Missense
LAMB2ENSG00000172037ENST00000305544p.G339Rc.1015G>CSubstitution - Missense
MYT1LENSG00000186487ENST00000399161p.D142Nc.424G>ASubstitution - Missense
PIEZO1ENSG00000103335ENST00000301015p.P1771Lc.5312C>TSubstitution - Missense
ENST00000453548p.D225Ec.675C>GSubstitution - Missense
CCDC88AENSG00000115355ENST00000263630p.K1070Kc.3210G>ASubstitution - coding silent
NT5DC1ENSG00000178425ENST00000319550p.G122Ac.365G>CSubstitution - Missense
LRP2BPENSG00000109771ENST00000328559p.E83Kc.247G>ASubstitution - Missense
PCDHGB3ENSG00000262209ENST00000576222p.S712Tc.2134T>ASubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000354484p.H547Hc.1641C>TSubstitution - coding silent
HIST1H2AHENSG00000184825ENST00000377459p.K10Kc.30A>GSubstitution - coding silent
GRIK5ENSG00000105737ENST00000301218p.G445Gc.1335C>TSubstitution - coding silent
BRD2ENSG00000204256ENST00000395289p.D333Yc.997G>TSubstitution - Missense
PKHD1ENSG00000170927ENST00000340994p.S2229Sc.6687T>CSubstitution - coding silent
DAB2IPENSG00000136848ENST00000259371p.K200Nc.600G>CSubstitution - Missense
SLC25A25ENSG00000148339ENST00000432073p.M146Tc.437T>CSubstitution - Missense
UNC13CENSG00000137766ENST00000545554p.?c.3228+8C>TUnknown
SEMA6CENSG00000143434ENST00000341697p.?c.548-4C>AUnknown
BNIPLENSG00000163141ENST00000295294p.?c.474-5C>AUnknown
ENST00000282251_v68p.I789Mc.2367A>GSubstitution - Missense
ENST00000266524p.?c.1791+5G>AUnknown
IFLTD1ENSG00000152936ENST00000282881p.S131Cc.392C>GSubstitution - Missense
MICU3ENSG00000155970ENST00000318063p.D247Nc.739G>ASubstitution - Missense
LAMA5ENSG00000130702ENST00000252999p.S2743*c.8228C>GSubstitution - Nonsense
BCORENSG00000183337ENST00000397354p.P394Sc.1180C>TSubstitution - Missense
CNTNAP5ENSG00000155052ENST00000431078p.H1079Qc.3237C>ASubstitution - Missense
USP40ENSG00000085982ENST00000450966p.R1093Rc.3279G>ASubstitution - coding silent
HACE1ENSG00000085382ENST00000262903p.L704Vc.2110C>GSubstitution - Missense
KIAA0825ENSG00000185261ENST00000312498p.L823Rc.2468T>GSubstitution - Missense
VCANENSG00000038427ENST00000265077p.T2353Sc.7057A>TSubstitution - Missense
CACTINENSG00000105298ENST00000221899p.G463Gc.1389T>CSubstitution - coding silent
HLA-EENSG00000204592ENST00000376630p.G128Ec.383G>ASubstitution - Missense
ZNF19ENSG00000157429ENST00000288177p.A77Ac.231A>CSubstitution - coding silent
CAMK2GENSG00000148660ENST00000322635p.A296Gc.887C>GSubstitution - Missense
ENST00000434864p.H129Dc.385C>GSubstitution - Missense
SPOPLENSG00000144228ENST00000280098p.R99*c.295C>TSubstitution - Nonsense
BRIP1ENSG00000136492ENST00000259008p.L717Vc.2149C>GSubstitution - Missense
OR6C75ENSG00000187857ENST00000343399p.I307Nc.920T>ASubstitution - Missense
NTRK3ENSG00000140538ENST00000360948p.Q808Qc.2424G>ASubstitution - coding silent
CEP290ENSG00000198707ENST00000552810p.Q21Ec.61C>GSubstitution - Missense
NTRK3ENSG00000140538ENST00000317501p.H254Yc.760C>TSubstitution - Missense
CEP170ENSG00000143702ENST00000366543p.P180Pc.540G>ASubstitution - coding silent
ACAP3ENSG00000131584ENST00000354700p.R577Hc.1730G>ASubstitution - Missense
UBR1ENSG00000159459ENST00000290650p.E686Kc.2056G>ASubstitution - Missense
CARSENSG00000110619ENST00000380525p.E21Kc.61G>ASubstitution - Missense
FAM169BENSG00000185087ENST00000558256p.R189Sc.567G>TSubstitution - Missense
KCNC2ENSG00000166006ENST00000298972p.F303Yc.908T>ASubstitution - Missense
CTCFLENSG00000124092ENST00000423479p.?c.1988+172_2103del2133Unknown
ATP8A1ENSG00000124406ENST00000264449p.G335Gc.1005T>CSubstitution - coding silent
NM_022740p.?c.1435-2A>TUnknown
CDH15ENSG00000129910ENST00000289746p.?c.978+7G>AUnknown
FANCD2ENSG00000144554ENST00000287647p.E827Kc.2479G>ASubstitution - Missense
PATZ1ENSG00000100105ENST00000215919p.S181Lc.542C>TSubstitution - Missense
ZNF776ENSG00000152443ENST00000317178p.S28Cc.83C>GSubstitution - Missense
SLC12A7ENSG00000113504ENST00000264930p.L1065Lc.3195G>ASubstitution - coding silent
PLGENSG00000122194ENST00000308192p.R284Rc.852C>GSubstitution - coding silent
CCDC85AENSG00000055813ENST00000407595p.S415Lc.1244C>TSubstitution - Missense
HDAC5ENSG00000108840ENST00000393622p.M481Tc.1442T>CSubstitution - Missense
EYA2ENSG00000064655ENST00000327619p.P188Lc.563C>TSubstitution - Missense
CPAMD8ENSG00000160111ENST00000291440p.G772Gc.2316G>ASubstitution - coding silent
KCNK9ENSG00000169427ENST00000303015p.V13Vc.39C>GSubstitution - coding silent
DHRS9ENSG00000073737ENST00000357546p.I10Ic.30C>TSubstitution - coding silent
MAST3ENSG00000099308ENST00000262811p.?c.756+1G>TUnknown
RFX8ENSG00000196460ENST00000376826p.P143Pc.429G>ASubstitution - coding silent
ARHGAP30ENSG00000186517ENST00000368013p.L443Ic.1327C>ASubstitution - Missense
TTC23ENSG00000103852ENST00000394132p.L13Qc.38T>ASubstitution - Missense
IFNGENSG00000111537ENST00000229135p.K110Nc.330G>CSubstitution - Missense
IFLTD1ENSG00000152936ENST00000458174p.L155Fc.463C>TSubstitution - Missense
DR1ENSG00000117505ENST00000370267p.?c.221-6C>GUnknown
BARD1ENSG00000138376ENST00000260947p.S339Nc.1016G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.E2245Dc.6735G>CSubstitution - Missense
STXBP2ENSG00000076944ENST00000221283p.L316Vc.946C>GSubstitution - Missense
KIAA2026ENSG00000183354ENST00000399933p.S578Sc.1734T>ASubstitution - coding silent
NM_020777.1p.D418Nc.1252G>ASubstitution - Missense
NT5DC1ENSG00000178425ENST00000419791p.G122Ac.365G>CSubstitution - Missense
FAM122CENSG00000156500ENST00000445123p.L28Fc.84G>TSubstitution - Missense
HOMER2ENSG00000103942ENST00000304231p.R324Qc.971G>ASubstitution - Missense
NDNENSG00000182636ENST00000331837p.E16Kc.46G>ASubstitution - Missense
NAT10ENSG00000135372ENST00000257829p.L1021fs*>6c.3060_3061insAInsertion - Frameshift
WASF2ENSG00000158195ENST00000430629p.L82Lc.244C>TSubstitution - coding silent
C21orf54ENSG00000229086ENST00000451980p.P82Pc.246A>TSubstitution - coding silent
OLFM3ENSG00000118733ENST00000370103p.S161Yc.482C>ASubstitution - Missense
CAPN9ENSG00000135773ENST00000354537p.T152fs*29c.451delCDeletion - Frameshift
NAV3ENSG00000067798ENST00000397909p.E1629Qc.4885G>CSubstitution - Missense
ITGA10ENSG00000143127ENST00000369304p.E255*c.763G>TSubstitution - Nonsense
FRMD6ENSG00000139926ENST00000395718p.E355Gc.1064A>GSubstitution - Missense
MKNK1ENSG00000079277ENST00000371946p.Q414Ec.1240C>GSubstitution - Missense
ST6GALNAC1ENSG00000070526ENST00000156626p.Q89fs*47c.266_267insCAInsertion - Frameshift
ZNF423ENSG00000102935ENST00000262383p.P91Ac.271C>GSubstitution - Missense
KRTAP21-3ENSG00000231068ENST00000444335p.A53Vc.158C>TSubstitution - Missense
SLC17A3ENSG00000124564ENST00000397060p.L219Lc.657C>TSubstitution - coding silent
SLC17A3ENSG00000124564ENST00000360657p.L141Lc.423C>TSubstitution - coding silent
ZC3H12BENSG00000102053ENST00000338957p.P571Ac.1711C>GSubstitution - Missense
RP1L1ENSG00000183638ENST00000382483p.S457Cc.1370C>GSubstitution - Missense
EHHADHENSG00000113790ENST00000231887p.V247Vc.741G>ASubstitution - coding silent
SH2D5ENSG00000189410ENST00000375031p.E46Dc.138G>CSubstitution - Missense
NTRK3ENSG00000140538ENST00000360948p.H254Yc.760C>TSubstitution - Missense
UNC13CENSG00000137766ENST00000260323p.?c.3228+8C>TUnknown
ADAM15ENSG00000143537ENST00000356955p.R484*c.1450A>TSubstitution - Nonsense
IFLTD1ENSG00000152936ENST00000282881p.D112Ec.336T>ASubstitution - Missense
IFLTD1ENSG00000152936ENST00000458174p.F108Lc.324C>ASubstitution - Missense
NID2ENSG00000087303ENST00000216286p.P211Lc.632C>TSubstitution - Missense
SIGLEC1ENSG00000088827ENST00000344754p.?c.2380+2T>GUnknown
LILRA4ENSG00000239961ENST00000291759p.C195Cc.585C>TSubstitution - coding silent
TMC1ENSG00000165091ENST00000297784p.E80Kc.238G>ASubstitution - Missense
CCR7ENSG00000126353ENST00000246657p.R363Hc.1088G>ASubstitution - Missense
TMEM127ENSG00000135956ENST00000258439p.F83Lc.249C>GSubstitution - Missense
C8orf34ENSG00000165084ENST00000337103p.L142Vc.424C>GSubstitution - Missense
ALKENSG00000171094ENST00000389048p.D1311Nc.3931G>ASubstitution - Missense
ZNF667ENSG00000198046ENST00000292069p.C532Yc.1595G>ASubstitution - Missense
MTHFD2ENSG00000065911ENST00000394050p.V78Vc.234G>ASubstitution - coding silent
KPNA4ENSG00000186432ENST00000334256p.V347Vc.1041G>ASubstitution - coding silent
CCDC146ENSG00000135205ENST00000285871p.E12Ec.36G>ASubstitution - coding silent
MEF2BNB-MEF2BENSG00000064489ENST00000354191p.R100Pc.299G>CSubstitution - Missense
LUC7L3ENSG00000108848ENST00000505658p.R358*c.1072C>TSubstitution - Nonsense
ZNF585AENSG00000196967ENST00000392157p.R403*c.1207C>TSubstitution - Nonsense
DYDC1ENSG00000170788ENST00000421924p.P153Sc.457C>TSubstitution - Missense
MCF2LENSG00000126217ENST00000423482p.R405Qc.1214G>ASubstitution - Missense
ENST00000314583_v70p.N376Tc.1127A>CSubstitution - Missense
NEO1ENSG00000067141ENST00000261908p.I455Mc.1365C>GSubstitution - Missense
OLFM3ENSG00000118733ENST00000338858p.S181Yc.542C>ASubstitution - Missense
NTRK3ENSG00000140538ENST00000394480p.H254Yc.760C>TSubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.T1647Tc.4941G>ASubstitution - coding silent
ME3ENSG00000151376ENST00000393324p.G166Dc.497G>ASubstitution - Missense
FRMD6ENSG00000139926ENST00000344768p.E363Gc.1088A>GSubstitution - Missense
ENST00000005905p.A1249Vc.3746C>TSubstitution - Missense
ADAMTS3ENSG00000156140ENST00000286657p.?c.1599+7A>GUnknown
MCM3APENSG00000160294ENST00000397708p.?c.3336-3T>CUnknown
NM_003319p.K14358Kc.43074G>ASubstitution - coding silent
ENST00000405167p.T3423Nc.10268C>ASubstitution - Missense
TRIM36ENSG00000152503ENST00000282369p.V71Ac.212T>CSubstitution - Missense
SLC12A7ENSG00000113504ENST00000264930p.?c.918-9C>TUnknown
FAM188BENSG00000106125ENST00000265299p.N360Dc.1078A>GSubstitution - Missense
DZIP1LENSG00000158163ENST00000469243p.S12Rc.34A>CSubstitution - Missense
NLGN4XENSG00000146938ENST00000381093p.R173Hc.518G>ASubstitution - Missense
MSANTD3ENSG00000066697ENST00000374885p.L100Vc.298C>GSubstitution - Missense
ENST00000377643p.P121Pc.363G>TSubstitution - coding silent
ENST00000319379p.S3174*c.9521C>ASubstitution - Nonsense
MCF2ENSG00000101977ENST00000370573p.K427Rc.1280A>GSubstitution - Missense
AXLENSG00000167601ENST00000301178p.R599Mc.1796G>TSubstitution - Missense
DLX4ENSG00000108813ENST00000411890p.Q94Hc.282G>CSubstitution - Missense
RTCAENSG00000137996ENST00000370128p.?c.741-9C>AUnknown
TIMELESSENSG00000111602ENST00000553532p.H109Hc.327T>CSubstitution - coding silent
PLEKHG6ENSG00000008323ENST00000011684p.S485Sc.1455C>TSubstitution - coding silent
B3GNT6ENSG00000198488ENST00000533140p.G317fs*62c.948_992>43Unknown
RHOT2ENSG00000140983ENST00000315082p.E39delEc.111_113delGGADeletion - In frame
SCNN1BENSG00000168447ENST00000307331p.S331Lc.992C>TSubstitution - Missense
MRI1ENSG00000037757ENST00000040663p.?c.547+3G>CUnknown
ATP1A3ENSG00000105409ENST00000302102p.?c.2419-6G>AUnknown
PIGTENSG00000124155ENST00000279036p.R209Gc.625C>GSubstitution - Missense
PDGFRAENSG00000134853ENST00000257290p.L47Qc.140T>ASubstitution - Missense
KLHL22ENSG00000099910ENST00000328879p.L218Vc.652C>GSubstitution - Missense
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
GGT1ENSG00000100031ENST00000400380p.L213Vc.637C>GSubstitution - Missense
ENST00000426507p.P130Sc.388C>TSubstitution - Missense
DAB2IPENSG00000136848ENST00000309989p.K104Nc.312G>CSubstitution - Missense
SLC25A25ENSG00000148339ENST00000373064p.M126Tc.377T>CSubstitution - Missense
SH2D3CENSG00000095370ENST00000314830p.E176Vc.527A>TSubstitution - Missense
SLC25A25ENSG00000148339ENST00000373068p.M160Tc.479T>CSubstitution - Missense
PRRC2BENSG00000130723ENST00000357304p.R1217Kc.3650G>ASubstitution - Missense
FIBCD1ENSG00000130720ENST00000372338p.V197Lc.589G>CSubstitution - Missense
TMEM41AENSG00000163900ENST00000421852p.G38Vc.113G>TSubstitution - Missense
LIPHENSG00000163898ENST00000296252p.G308Vc.923G>TSubstitution - Missense
MASP1ENSG00000127241ENST00000169293p.M63Lc.187A>TSubstitution - Missense
CREBRFENSG00000164463ENST00000296953p.S23*c.68C>ASubstitution - Nonsense
CDHR2ENSG00000074276ENST00000261944p.?c.844+7A>GUnknown
ITPR3ENSG00000096433ENST00000374316p.T2151Tc.6453C>ASubstitution - coding silent
SLC22A7ENSG00000137204ENST00000372585p.M543Ic.1629G>TSubstitution - Missense
PKHD1ENSG00000170927ENST00000371117p.S2229Sc.6687T>CSubstitution - coding silent
TP53ENSG00000141510ENST00000420246p.K132Rc.395A>GSubstitution - Missense
LUC7L3ENSG00000108848ENST00000544170p.R282*c.844C>TSubstitution - Nonsense
ADAMTSL2ENSG00000197859ENST00000393061p.V980Vc.2940G>ASubstitution - coding silent
KCNMA1ENSG00000156113ENST00000404771p.Y529Hc.1585T>CSubstitution - Missense
KCNMA1ENSG00000156113ENST00000372443p.Y592Hc.1774T>CSubstitution - Missense
MYO1HENSG00000174527ENST00000310903p.E992Dc.2976A>CSubstitution - Missense
MYO1HENSG00000174527ENST00000431443p.E1002Dc.3006A>CSubstitution - Missense
MCF2LENSG00000126217ENST00000434480p.R413Qc.1238G>ASubstitution - Missense
OLFM3ENSG00000118733ENST00000359814p.S181Yc.542C>ASubstitution - Missense
SEMA6CENSG00000143434ENST00000368913p.W220Gc.658T>GSubstitution - Missense
GPR161ENSG00000143147ENST00000546300p.E118Dc.354G>CSubstitution - Missense
SLC2A1ENSG00000117394ENST00000439722p.?c.394+5G>TUnknown
CSMD2ENSG00000121904ENST00000338325p.L126Lc.378G>TSubstitution - coding silent
ARHGAP29ENSG00000137962ENST00000370217p.S36Fc.107C>TSubstitution - Missense
TTC23ENSG00000103852ENST00000394130p.L13Qc.38T>ASubstitution - Missense
ZNF423ENSG00000102935ENST00000561874p.P91Ac.271C>GSubstitution - Missense
KIAA0100ENSG00000007202ENST00000528896p.A1249Vc.3746C>TSubstitution - Missense
RAI1ENSG00000108557ENST00000261641p.D593Dc.1779C>TSubstitution - coding silent
ABCA8ENSG00000141338ENST00000430352p.E822Qc.2464G>CSubstitution - Missense
STRN4ENSG00000090372ENST00000391910p.D392Dc.1176C>TSubstitution - coding silent
MATN4ENSG00000124159ENST00000372754p.L88Vc.262C>GSubstitution - Missense
MYT1LENSG00000186487ENST00000428368p.D142Nc.424G>ASubstitution - Missense
SLC8A1ENSG00000183023ENST00000406785p.H299Yc.895C>TSubstitution - Missense
SLC8A1ENSG00000183023ENST00000542024p.H299Yc.895C>TSubstitution - Missense
GFPT1ENSG00000198380ENST00000357308p.T465Ic.1394C>TSubstitution - Missense
COL6A5ENSG00000172752ENST00000373157p.D445Nc.1333G>ASubstitution - Missense
ENST00000314583_v70p.N376Hc.1126A>CSubstitution - Missense
SORCS2ENSG00000184985ENST00000329016p.D396Nc.1186G>ASubstitution - Missense
XRCC4ENSG00000152422ENST00000338635p.F96Ic.286T>ASubstitution - Missense
NT5DC1ENSG00000178425ENST00000417846p.G36Rc.106G>CSubstitution - Missense
DOPEY1ENSG00000083097ENST00000237163p.P264Lc.791C>TSubstitution - Missense
TRERF1ENSG00000124496ENST00000372917p.Q740Qc.2220G>ASubstitution - coding silent
DGKBENSG00000136267ENST00000258767p.V246Mc.736G>ASubstitution - Missense
HIPK2ENSG00000064393ENST00000342645p.?c.1435-2A>TUnknown
SH2D3CENSG00000095370ENST00000373276p.E108Vc.323A>TSubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000393061p.H656Hc.1968C>TSubstitution - coding silent
RAVER2ENSG00000162437ENST00000371072p.R639Qc.1916G>ASubstitution - Missense
UCP2ENSG00000175567ENST00000310473p.R96Hc.287G>ASubstitution - Missense
SLC7A8ENSG00000092068ENST00000316902p.I317Ic.951C>TSubstitution - coding silent
CUX2ENSG00000111249ENST00000261726p.F615Lc.1843T>CSubstitution - Missense
UFSP1ENSG00000176125ENST00000388761p.D120Nc.358G>ASubstitution - Missense
RFC2ENSG00000049541ENST00000055077p.V62Vc.186C>GSubstitution - coding silent
NM_001010888.1p.P657Ac.1969C>GSubstitution - Missense
SPIN4ENSG00000186767ENST00000335144p.D235Hc.703G>CSubstitution - Missense
SU_MAST3p.?c.822+1G>TUnknown
CRTC1ENSG00000105662ENST00000338797p.?c.430-3C>GUnknown
CRTC1ENSG00000105662ENST00000321949p.?c.382-3C>GUnknown
TM6SF2ENSG00000213996ENST00000389363p.I168Vc.502A>GSubstitution - Missense
SULT1A2ENSG00000197165ENST00000395630p.E231Kc.691G>ASubstitution - Missense
DRD3ENSG00000151577ENST00000383673p.L34Lc.102C>GSubstitution - coding silent
HCLS1ENSG00000180353ENST00000314583p.N376Tc.1127A>CSubstitution - Missense
HCLS1ENSG00000180353ENST00000314583p.N376Hc.1126A>CSubstitution - Missense
NUP210ENSG00000132182ENST00000254508p.S489Lc.1466C>TSubstitution - Missense
PIK3CBENSG00000051382ENST00000477593p.G907Gc.2721C>GSubstitution - coding silent
C3orf72ENSG00000206262ENST00000383165p.L113Lc.339C>GSubstitution - coding silent
DZIP1LENSG00000158163ENST00000327532p.S12Rc.34A>CSubstitution - Missense
TLR2ENSG00000137462ENST00000260010p.F544Fc.1632C>TSubstitution - coding silent
FAM149AENSG00000109794ENST00000503432p.Q361Qc.1083A>GSubstitution - coding silent
NELFAENSG00000185049ENST00000333877p.E126Kc.376G>ASubstitution - Missense
TTC37ENSG00000198677ENST00000358746p.V317Vc.951C>TSubstitution - coding silent
KIAA0825ENSG00000185261ENST00000513200p.L823Rc.2468T>GSubstitution - Missense
GPR98ENSG00000164199ENST00000405460p.S6222Gc.18664A>GSubstitution - Missense
FBXO15ENSG00000141665ENST00000269500p.L371Lc.1113G>ASubstitution - coding silent
ENOSF1ENSG00000132199ENST00000251101p.R238Qc.713G>ASubstitution - Missense
TMEM259ENSG00000182087ENST00000356663p.F179Fc.537C>TSubstitution - coding silent
TFAP2AENSG00000137203ENST00000379604p.T349Sc.1046C>GSubstitution - Missense
TFAP2AENSG00000137203ENST00000319516p.T345Sc.1034C>GSubstitution - Missense
CDC40ENSG00000168438ENST00000368932p.V566Fc.1696G>TSubstitution - Missense
LGSNENSG00000146166ENST00000485906p.I339Ic.1017C>TSubstitution - coding silent
ZNF451ENSG00000112200ENST00000370708p.A280Ac.840G>ASubstitution - coding silent
EIF3HENSG00000147677ENST00000521861p.I49Tc.146T>CSubstitution - Missense
COL14A1ENSG00000187955ENST00000297848p.E1366Qc.4096G>CSubstitution - Missense
MSANTD3ENSG00000066697ENST00000395067p.L100Vc.298C>GSubstitution - Missense
ENSG00000148123ENST00000374874p.G234Rc.700G>ASubstitution - Missense
FAM184AENSG00000111879ENST00000338891p.Q584*c.1750C>TSubstitution - Nonsense
L3MBTL3ENSG00000198945ENST00000368136p.Q352Ec.1054C>GSubstitution - Missense
DOPEY1ENSG00000083097ENST00000349129p.P264Lc.791C>TSubstitution - Missense
BLOC1S5ENSG00000188428ENST00000397457p.?c.112+1G>CUnknown
KIAA1009ENSG00000135315ENST00000403245p.Q88*c.262C>TSubstitution - Nonsense
SLC8A1ENSG00000183023ENST00000403092p.H299Yc.895C>TSubstitution - Missense
HAAOENSG00000162882ENST00000294973p.E68Qc.202G>CSubstitution - Missense
CACTINENSG00000105298ENST00000429344p.E538_A539insGEc.1593_1594insGAGGGCInsertion - In frame
CACTINENSG00000105298ENST00000221899p.E470_A471insGEc.1389_1390insGAGGGCInsertion - In frame
CACTINENSG00000105298ENST00000429344p.G531Gc.1593T>CSubstitution - coding silent
GIPC3ENSG00000179855ENST00000322315p.?c.592+5G>AUnknown
ZNF585BENSG00000245680ENST00000532828p.Q757*c.2269C>TSubstitution - Nonsense
FNDC3BENSG00000075420ENST00000336824p.T566Mc.1697C>TSubstitution - Missense
FNDC3BENSG00000075420ENST00000336824p.?c.1971+1G>TUnknown
ENST00000576222_v68p.S712Tc.2134T>ASubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000354484p.V871Vc.2613G>ASubstitution - coding silent
TRAF2ENSG00000127191ENST00000536468p.P17Sc.49C>TSubstitution - Missense
CDK20ENSG00000156345ENST00000325303p.E251Qc.751G>CSubstitution - Missense
CDK20ENSG00000156345ENST00000336654p.E243Qc.727G>CSubstitution - Missense
IFNL3ENSG00000197110ENST00000413851p.R74Hc.221G>ASubstitution - Missense
SLC9A6ENSG00000198689ENST00000370698p.E56Kc.166G>ASubstitution - Missense
ATP11CENSG00000101974ENST00000327569p.E112Qc.334G>CSubstitution - Missense
ATP11CENSG00000101974ENST00000361648p.E112Qc.334G>CSubstitution - Missense
MCF2ENSG00000101977ENST00000519895p.K487Rc.1460A>GSubstitution - Missense
MCF2ENSG00000101977ENST00000370576p.K427Rc.1280A>GSubstitution - Missense
GALNT10ENSG00000164574ENST00000297107p.G90Vc.269G>TSubstitution - Missense
GALNT10ENSG00000164574ENST00000425427p.G90Vc.269G>TSubstitution - Missense
C7orf72ENSG00000164500ENST00000297001p.T268Nc.803C>ASubstitution - Missense
ABCA13ENSG00000179869ENST00000435803p.S3229*c.9686C>ASubstitution - Nonsense
RP1L1ENSG00000183638ENST00000382483p.R639Rc.1917A>GSubstitution - coding silent
PRSS8ENSG00000052344ENST00000317508p.S76Cc.227C>GSubstitution - Missense
ITGAXENSG00000140678ENST00000268296p.E354Ec.1062G>ASubstitution - coding silent
PTPRSENSG00000105426ENST00000357368p.F1931Fc.5793C>TSubstitution - coding silent
PATZ1ENSG00000100105ENST00000266269p.S181Lc.542C>TSubstitution - Missense
ENST00000405167p.G3900Dc.11699G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.S1592Lc.4775C>TSubstitution - Missense
GPR15ENSG00000154165ENST00000284311p.L176Lc.528G>ASubstitution - coding silent
TACR3ENSG00000169836ENST00000304883p.Q218*c.652C>TSubstitution - Nonsense
SLC39A8ENSG00000138821ENST00000356736p.G167Ac.500G>CSubstitution - Missense
PURGENSG00000172733ENST00000339382p.V76Vc.228G>ASubstitution - coding silent
PURGENSG00000172733ENST00000475541p.V76Vc.228G>ASubstitution - coding silent
DDHD2ENSG00000085788ENST00000397166p.?c.1461+5C>GUnknown
RAB11FIP1ENSG00000156675ENST00000330843p.L286Lc.858G>ASubstitution - coding silent
MED14ENSG00000180182ENST00000324817p.M390Ic.1170G>ASubstitution - Missense
ZNF157ENSG00000147117ENST00000377073p.R433Wc.1297C>TSubstitution - Missense
ARAFENSG00000078061ENST00000377045p.P194Lc.581C>TSubstitution - Missense
ARAFENSG00000078061ENST00000377045p.D592Nc.1774G>ASubstitution - Missense
OTUD5ENSG00000068308ENST00000156084p.D249Ec.747C>GSubstitution - Missense
SLC38A5ENSG00000017483ENST00000376876p.G224Cc.670G>TSubstitution - Missense
ZNF667ENSG00000198046ENST00000342634p.C660Yc.1979G>ASubstitution - Missense
NLRP5ENSG00000171487ENST00000390649p.Q785*c.2353C>TSubstitution - Nonsense
ABCA6ENSG00000154262ENST00000284425p.S1578Sc.4734T>CSubstitution - coding silent
ABCA8ENSG00000141338ENST00000269080p.E782Qc.2344G>CSubstitution - Missense
RFX8ENSG00000196460ENST00000428343p.P30Pc.90G>ASubstitution - coding silent
TRANK1ENSG00000168016ENST00000428977p.R1730Lc.5189G>TSubstitution - Missense
TRANK1ENSG00000168016ENST00000301807p.R1723Lc.5168G>TSubstitution - Missense
DYNC1LI1ENSG00000144635ENST00000273130p.P308Tc.922C>ASubstitution - Missense
VILLENSG00000136059ENST00000283713p.F820Lc.2460C>GSubstitution - Missense
C5orf30ENSG00000181751ENST00000319933p.E22Ac.65A>CSubstitution - Missense
TRIM36ENSG00000152503ENST00000282369p.V71Vc.213G>TSubstitution - coding silent
DPEP3ENSG00000141096ENST00000268793p.E439Gc.1316A>GSubstitution - Missense
RTKNENSG00000114993ENST00000272430p.E202Kc.604G>ASubstitution - Missense
MTHFD2ENSG00000065911ENST00000394053p.V180Vc.540G>ASubstitution - coding silent
REG3AENSG00000172016ENST00000393878p.W12*c.35G>ASubstitution - Nonsense
LOXL3ENSG00000115318ENST00000264094p.F49Cc.146T>GSubstitution - Missense
EGFENSG00000138798ENST00000265171p.?c.1576-9C>GUnknown
EXOSC9ENSG00000123737ENST00000379663p.E354Ec.1062G>ASubstitution - coding silent
SEC24DENSG00000150961ENST00000280551p.Q205Hc.615G>TSubstitution - Missense
MAML1ENSG00000161021ENST00000292599p.E553Qc.1657G>CSubstitution - Missense
ENST00000376951p.E590Qc.1768G>CSubstitution - Missense
NAA15ENSG00000164134ENST00000296543p.E640Gc.1919A>GSubstitution - Missense
HECAENSG00000112406ENST00000367658p.A399Ac.1197C>TSubstitution - coding silent
UTRNENSG00000152818ENST00000367545p.N1660Nc.4980C>TSubstitution - coding silent
IGF2RENSG00000197081ENST00000356956p.A1882Vc.5645C>TSubstitution - Missense
CD36ENSG00000135218ENST00000435819p.V401fs*4c.1202_1205delTATTDeletion - Frameshift
CD36ENSG00000135218ENST00000394788p.V401fs*4c.1202_1205delTATTDeletion - Frameshift
ADAM22ENSG00000008277ENST00000398209p.Q484*c.1450C>TSubstitution - Nonsense
ADAM22ENSG00000008277ENST00000265727p.Q484*c.1450C>TSubstitution - Nonsense
SNTG2ENSG00000172554ENST00000308624p.Y329Cc.986A>GSubstitution - Missense
DNPEPENSG00000123992ENST00000273075p.S479Cc.1435A>TSubstitution - Missense
ACSL3ENSG00000123983ENST00000357430p.K126Qc.376A>CSubstitution - Missense
CCDC88AENSG00000115355ENST00000336838p.K1069Kc.3207G>ASubstitution - coding silent
TMEM17ENSG00000186889ENST00000335390p.M191Ic.573G>ASubstitution - Missense
ADCY5ENSG00000173175ENST00000462833p.S1112Sc.3336C>TSubstitution - coding silent
COL6A5ENSG00000172752ENST00000265379p.D2502Nc.7504G>ASubstitution - Missense
COL6A5ENSG00000172752ENST00000312481p.D541Nc.1621G>ASubstitution - Missense
TCF20ENSG00000100207ENST00000359486p.?c.5749+10G>AUnknown
CELSR1ENSG00000075275ENST00000262738p.T1817Tc.5451G>ASubstitution - coding silent
CPT1BENSG00000205560ENST00000395650p.T315Sc.944C>GSubstitution - Missense
ZNF197ENSG00000186448ENST00000344387p.E794Qc.2380G>CSubstitution - Missense
ITPR1ENSG00000150995ENST00000302640p.E1381Qc.4141G>CSubstitution - Missense
ITPR1ENSG00000150995ENST00000456211p.E1372Qc.4114G>CSubstitution - Missense
ZDHHC11BENSG00000206077ENST00000382776p.?c.1058+8C>TUnknown
MDGA1ENSG00000112139ENST00000297153p.?c.2414-6C>TUnknown
HERC1ENSG00000103657ENST00000443617p.E755Dc.2265G>CSubstitution - Missense
HERC1ENSG00000103657ENST00000443617p.E755Dc.2265G>CSubstitution - Missense
CORO2BENSG00000103647ENST00000566799p.T73Sc.217A>TSubstitution - Missense
MCF2LENSG00000126217ENST00000375604p.R464Qc.1391G>ASubstitution - Missense
MCF2LENSG00000126217ENST00000375608p.R437Qc.1310G>ASubstitution - Missense
FAM98BENSG00000171262ENST00000397609p.T156Ic.467C>TSubstitution - Missense
FAM98BENSG00000171262ENST00000491535p.T156Ic.467C>TSubstitution - Missense
AQRENSG00000021776ENST00000156471p.L321Lc.963G>CSubstitution - coding silent
ENST00000318301p.R910Tc.2729G>CSubstitution - Missense
RBFOX1ENSG00000078328ENST00000311745p.?c.817+5G>AUnknown
RBFOX1ENSG00000078328ENST00000355637p.?c.817+5G>AUnknown
GGT6ENSG00000167741ENST00000301395p.P233fs*12c.697_698insTCInsertion - Frameshift
SPNS2ENSG00000183018ENST00000329078p.?c.1444-4G>CUnknown
DLX4ENSG00000108813ENST00000240306p.Q166Hc.498G>CSubstitution - Missense
SPOPENSG00000121067ENST00000393328p.E160Dc.480G>TSubstitution - Missense
ESF1ENSG00000089048ENST00000202816p.L89Fc.267G>CSubstitution - Missense
ZDBF2ENSG00000204186ENST00000374423p.S1209Lc.3626C>TSubstitution - Missense
ZDBF2ENSG00000204186ENST00000374423p.S1209Lc.3626C>TSubstitution - Missense
KANSL1LENSG00000144445ENST00000281772p.S616*c.1847C>ASubstitution - Nonsense
APOBENSG00000084674ENST00000233242p.K1324Kc.3972G>ASubstitution - coding silent
PXDNLENSG00000147485ENST00000356297p.R256Qc.767G>ASubstitution - Missense
RP1ENSG00000104237ENST00000220676p.P1658Rc.4973C>GSubstitution - Missense
ATP6V1HENSG00000047249ENST00000355221p.H394Qc.1182C>ASubstitution - Missense
FAM122CENSG00000156500ENST00000370784p.L113Fc.339G>TSubstitution - Missense
DENND1CENSG00000205744ENST00000381480p.R33Wc.97C>TSubstitution - Missense
DENND1CENSG00000205744ENST00000381480p.R59Wc.175C>TSubstitution - Missense
TUBB4AENSG00000104833ENST00000264071p.A364Ac.1092C>TSubstitution - coding silent
ZNF287ENSG00000141040ENST00000395824p.E231*c.691G>TSubstitution - Nonsense
RAI1ENSG00000108557ENST00000353383p.D593Dc.1779C>TSubstitution - coding silent
ST6GALNAC1ENSG00000070526ENST00000156626p.Q89fs*47c.259_260insACInsertion - Frameshift
C17orf99ENSG00000187997ENST00000340363p.?c.370+9G>AUnknown
HRCENSG00000130528ENST00000252825p.R40Wc.118C>TSubstitution - Missense
RHPN2ENSG00000131941ENST00000254260p.A427Ac.1281C>ASubstitution - coding silent
C20orf173ENSG00000125975ENST00000444723p.R179Wc.535C>TSubstitution - Missense
C20orf173ENSG00000125975ENST00000246199p.R126Wc.376C>TSubstitution - Missense
ACSS2ENSG00000131069ENST00000253382p.A608Gc.1823C>GSubstitution - Missense
SIGLEC1ENSG00000088827ENST00000202578p.?c.2380+2T>GUnknown
ZNF831ENSG00000124203ENST00000371030p.S350Fc.1049C>TSubstitution - Missense
ENST00000399933_v61p.S1403Sc.4209T>ASubstitution - coding silent
SORBS3ENSG00000120896ENST00000240123p.R9Hc.26G>ASubstitution - Missense
NBNENSG00000104320ENST00000265433p.V184Vc.552T>GSubstitution - coding silent
GABBR2ENSG00000136928ENST00000259455p.N521Nc.1563C>TSubstitution - coding silent
CORO6ENSG00000167549ENST00000388767p.D176Nc.526G>ASubstitution - Missense
SSH2ENSG00000141298ENST00000269033p.G801Ec.2402G>ASubstitution - Missense
SGSHENSG00000181523ENST00000326317p.R441Rc.1323G>TSubstitution - coding silent
SETBP1ENSG00000152217ENST00000282030p.S439Fc.1316C>TSubstitution - Missense
ZNF69ENSG00000198429ENST00000429654p.S547*c.1640C>GSubstitution - Nonsense
ZNF20ENSG00000132010ENST00000334213p.C419Yc.1256G>ASubstitution - Missense
ZNF423ENSG00000102935ENST00000561648p.P91Ac.271C>GSubstitution - Missense
ADAMTS5ENSG00000154736ENST00000284987p.K332Kc.996G>ASubstitution - coding silent
TIAM1ENSG00000156299ENST00000286827p.D852Ac.2555A>CSubstitution - Missense
IFNAR2ENSG00000159110ENST00000382241p.I43Lc.127A>TSubstitution - Missense
IFNAR2ENSG00000159110ENST00000404220p.I43Lc.127A>TSubstitution - Missense
HIST1H2BGENSG00000187990ENST00000244601p.S33Ic.98G>TSubstitution - Missense
KLRG2ENSG00000188883ENST00000340940p.I381Ic.1143C>TSubstitution - coding silent
PPP1R9AENSG00000158528ENST00000433360p.A276Ac.828A>GSubstitution - coding silent
XM_374491.1p.A276Ac.828A>GSubstitution - coding silent
FOXH1ENSG00000160973ENST00000377317p.L114Lc.342G>CSubstitution - coding silent
DIP2AENSG00000160305ENST00000417564p.P1075Pc.3225G>ASubstitution - coding silent
DIP2AENSG00000160305ENST00000427143p.P1011Pc.3033G>ASubstitution - coding silent
PCNTENSG00000160299ENST00000359568p.Q1728Rc.5183A>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.K20855Kc.62565G>ASubstitution - coding silent
ATAD2BENSG00000119778ENST00000238789p.?c.3395-3C>TUnknown
TMEM214ENSG00000119777ENST00000238788p.L418Lc.1252C>TSubstitution - coding silent
MUC19ENSG00000205592ENST00000425730p.E34Dc.102A>CSubstitution - Missense
ANO6ENSG00000177119ENST00000320560p.D885Hc.2653G>CSubstitution - Missense
FLT1ENSG00000102755ENST00000282397p.G514Vc.1541G>TSubstitution - Missense
FLT1ENSG00000102755ENST00000541932p.G514Vc.1541G>TSubstitution - Missense
FLT1ENSG00000102755ENST00000539099p.G514Vc.1541G>TSubstitution - Missense
FLT3ENSG00000122025ENST00000241453p.V819fs*11c.2454_2455insTInsertion - Frameshift
KLHL20ENSG00000076321ENST00000209884p.R496Qc.1487G>ASubstitution - Missense
CSMD2ENSG00000121904ENST00000241312p.L478Lc.1434G>TSubstitution - coding silent
CSMD2ENSG00000121904ENST00000373381p.L518Lc.1554G>TSubstitution - coding silent
MEGF6ENSG00000162591ENST00000356575p.G1016Gc.3048G>CSubstitution - coding silent
ENST00000373082p.Q384Rc.1151A>GSubstitution - Missense
CCDC27ENSG00000162592ENST00000294600p.S58Lc.173C>TSubstitution - Missense
COL8A2ENSG00000171812ENST00000397799p.K238Rc.713A>GSubstitution - Missense
RSC1A1ENSG00000215695ENST00000345034p.D44Nc.130G>ASubstitution - Missense
ARHGAP30ENSG00000186517ENST00000368016p.L443Ic.1327C>ASubstitution - Missense
FCGR2BENSG00000072694ENST00000358671p.?c.856-5T>CUnknown
GLIPR1L2ENSG00000180481ENST00000378689p.?c.235-2A>CUnknown
KCNC2ENSG00000166006ENST00000549446p.F303Yc.908T>ASubstitution - Missense
KCNC2ENSG00000166006ENST00000341669p.F303Yc.908T>ASubstitution - Missense
EIF4G2ENSG00000110321ENST00000339995p.L643*c.1928T>GSubstitution - Nonsense
ENSG00000268467ENST00000600612p.G57Vc.170G>TSubstitution - Missense
CWF19L2ENSG00000152404ENST00000282251p.I635Mc.1905A>GSubstitution - Missense
DDI1ENSG00000170967ENST00000302259p.Y245*c.735C>ASubstitution - Nonsense
EIF3MENSG00000149100ENST00000531120p.T163Nc.488C>ASubstitution - Missense
NBPF12ENSG00000186275ENST00000442909p.?c.493+9G>AUnknown
NBPF12ENSG00000186275ENST00000446760p.?c.493+9G>AUnknown
RNF115ENSG00000121848ENST00000369291p.E220Qc.658G>CSubstitution - Missense
ENST00000270720p.C403*c.1209C>ASubstitution - Nonsense
EME2ENSG00000197774ENST00000307394p.P249Pc.747G>ASubstitution - coding silent
XM_372608.1p.E265Kc.793G>ASubstitution - Missense
SPSB3ENSG00000162032ENST00000566339p.P303Pc.909G>ASubstitution - coding silent
TMC5ENSG00000103534ENST00000396229p.R239Kc.716G>ASubstitution - Missense
ITGA8ENSG00000077943ENST00000378076p.?c.444+5G>AUnknown
ENSG00000005189ENST00000261377p.I387Ic.1161T>CSubstitution - coding silent
DCAF4ENSG00000119599ENST00000358377p.V373Vc.1119G>TSubstitution - coding silent
ENST00000238638p.M97Rc.290T>GSubstitution - Missense
ZC2HC1CENSG00000119703ENST00000524913p.G90Ac.269G>CSubstitution - Missense
FURINENSG00000140564ENST00000268171p.R104Wc.310C>TSubstitution - Missense
FESENSG00000182511ENST00000328850p.R61Qc.182G>ASubstitution - Missense
FESENSG00000182511ENST00000328850p.R61Qc.182G>ASubstitution - Missense
NCOA4ENSG00000138293ENST00000374082p.G571Ac.1712G>CSubstitution - Missense
C10orf40ENSG00000235931ENST00000521074p.D113Vc.338A>TSubstitution - Missense
TET1ENSG00000138336ENST00000373644p.P1949Sc.5845C>TSubstitution - Missense
SUPV3L1ENSG00000156502ENST00000359655p.E480Gc.1439A>GSubstitution - Missense
SLC22A24ENSG00000197658ENST00000417740p.C176Cc.528C>TSubstitution - coding silent
HPCAL4ENSG00000116983ENST00000372844p.I42Ic.126C>ASubstitution - coding silent
SLC2A1ENSG00000117394ENST00000426263p.?c.679+5G>TUnknown
ACAP3ENSG00000131584ENST00000354980p.R535Hc.1604G>ASubstitution - Missense
GPR161ENSG00000143147ENST00000367835p.E232Dc.696G>CSubstitution - Missense
GPR161ENSG00000143147ENST00000537209p.E252Dc.756G>CSubstitution - Missense
RAD54LENSG00000085999ENST00000442598p.R13Tc.38G>CSubstitution - Missense
PAPOLAENSG00000090060ENST00000216277p.S701*c.2102C>ASubstitution - Nonsense
IFLTD1ENSG00000152936ENST00000458174p.S152Cc.455C>GSubstitution - Missense
IFLTD1ENSG00000152936ENST00000458174p.D133Ec.399T>ASubstitution - Missense
KIF21BENSG00000116852ENST00000332129p.Q1401Ec.4201C>GSubstitution - Missense
ASH1LENSG00000116539ENST00000392403p.D2199Gc.6596A>GSubstitution - Missense
UNC13CENSG00000137766ENST00000260323p.?c.3228+8C>TUnknown
LDHAL6BENSG00000171989ENST00000307144p.F221Lc.663C>GSubstitution - Missense
TRIM64BENSG00000189253ENST00000329862p.F22Ic.64T>ASubstitution - Missense
ARID1AENSG00000117713ENST00000324856p.?c.3404_3406+30del33Unknown
SLC45A1ENSG00000162426ENST00000289877p.V476Vc.1428G>TSubstitution - coding silent
UNC79ENSG00000133958ENST00000256339p.T1021Nc.3062C>ASubstitution - Missense
UNC79ENSG00000133958ENST00000553484p.T1198Nc.3593C>ASubstitution - Missense
CPSF2ENSG00000165934ENST00000298875p.I146fs*8c.430_433delCTGTDeletion - Frameshift
NM_006218.1p.H1047Rc.3140A>GSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.K132Rc.395A>GSubstitution - Missense
PIK3CAENSG00000121879ENST00000263967p.H1047Rc.3140A>GSubstitution - Missense
IFLTD1ENSG00000152936ENST00000282881p.L134Fc.400C>TSubstitution - Missense
DNERENSG00000187957ENST00000341772p.T172Mc.515C>TSubstitution - Missense
ALKENSG00000171094ENST00000389048p.A1200Vc.3599C>TSubstitution - Missense
TP53ENSG00000141510ENST00000413465p.K132Rc.395A>GSubstitution - Missense
ENST00000545858p.K39Rc.116A>GSubstitution - Missense
SALL4ENSG00000101115ENST00000217086p.P204Pc.612C>TSubstitution - coding silent
BRIP1ENSG00000136492ENST00000259008p.L717Vc.2149C>GSubstitution - Missense
MYOM1ENSG00000101605ENST00000356443p.F1623Fc.4869C>TSubstitution - coding silent
IGSF22ENSG00000179057ENST00000513874p.R450Cc.1348C>TSubstitution - Missense
PKP4ENSG00000144283ENST00000389759p.R1108Wc.3322C>TSubstitution - Missense
DGKBENSG00000136267ENST00000403951p.V246Mc.736G>ASubstitution - Missense
PDGFBENSG00000100311ENST00000381551p.T218Mc.653C>TSubstitution - Missense
ZIC4ENSG00000174963ENST00000383075p.S291Lc.872C>TSubstitution - Missense
PDGFBENSG00000100311ENST00000331163p.T233Mc.698C>TSubstitution - Missense
PDGFBENSG00000100311ENST00000331163p.T233Mc.698C>TSubstitution - Missense
TP53ENSG00000141510ENST00000455263p.K132Rc.395A>GSubstitution - Missense
SH2D5ENSG00000189410ENST00000444387p.E130Dc.390G>CSubstitution - Missense
PINK1ENSG00000158828ENST00000321556p.G210Gc.630G>CSubstitution - coding silent
OR6C74ENSG00000197706ENST00000343870p.S241Yc.722C>ASubstitution - Missense
IKZF4ENSG00000123411ENST00000262032p.D302Yc.904G>TSubstitution - Missense
PMLENSG00000140464ENST00000268058p.R755Hc.2264G>ASubstitution - Missense
TSC22D1ENSG00000102804ENST00000458659p.P759Sc.2275C>TSubstitution - Missense
TRPV4ENSG00000111199ENST00000261740p.P142Lc.425C>TSubstitution - Missense
SH2B3ENSG00000111252ENST00000341259p.V402Mc.1204G>ASubstitution - Missense
ANKRD30AENSG00000148513ENST00000361713p.E1249Kc.3745G>ASubstitution - Missense
ANKRD30AENSG00000148513ENST00000602533p.E1249Kc.3745G>ASubstitution - Missense
USP48ENSG00000090686ENST00000308271p.I822Vc.2464A>GSubstitution - Missense
TLR5ENSG00000187554ENST00000366881p.L118Lc.354G>ASubstitution - coding silent
OBSCNENSG00000154358ENST00000570156p.P516Pc.1548T>GSubstitution - coding silent
SU_OBSCN.1p.P516Pc.1548T>GSubstitution - coding silent
OBSCNENSG00000154358ENST00000284548p.P516Pc.1548T>GSubstitution - coding silent
OBSCNENSG00000154358ENST00000359599p.P516Pc.1548T>GSubstitution - coding silent
CAMK2GENSG00000148660ENST00000322680p.A296Gc.887C>GSubstitution - Missense
KCNMA1ENSG00000156113ENST00000404857p.Y592Hc.1774T>CSubstitution - Missense
KCNMA1ENSG00000156113ENST00000286627p.Y592Hc.1774T>CSubstitution - Missense
KCNMA1ENSG00000156113ENST00000406533p.Y592Hc.1774T>CSubstitution - Missense
ATP5C1ENSG00000165629ENST00000356708p.L74Sc.221T>CSubstitution - Missense
KAT6BENSG00000156650ENST00000287239p.D678Hc.2032G>CSubstitution - Missense
LIPFENSG00000182333ENST00000394375p.?c.699+4T>CUnknown
LIPFENSG00000182333ENST00000238983p.?c.669+4T>CUnknown
OR6M1ENSG00000196099ENST00000309154p.R52Cc.154C>TSubstitution - Missense
SLC37A2ENSG00000134955ENST00000308074p.L304Lc.910C>TSubstitution - coding silent
SLC37A2ENSG00000134955ENST00000403796p.L304Lc.910C>TSubstitution - coding silent
CKAP5ENSG00000175216ENST00000529230p.E1436Kc.4306G>ASubstitution - Missense
OR4C3ENSG00000176547ENST00000319856p.T79Mc.236C>TSubstitution - Missense
PRIM1ENSG00000198056ENST00000338193p.E373Kc.1117G>ASubstitution - Missense
OSBPL8ENSG00000091039ENST00000261183p.R12*c.34C>TSubstitution - Nonsense
POC1BENSG00000139323ENST00000313546p.?c.1114-1G>TUnknown
ATP2B1ENSG00000070961ENST00000261173p.E1149Qc.3445G>CSubstitution - Missense
CAPN9ENSG00000135773ENST00000271971p.T152fs*29c.451delCDeletion - Frameshift
ENSG00000143674ENST00000366624p.G875Rc.2623G>ASubstitution - Missense
ZNF268ENSG00000090612ENST00000228289p.I320Sc.959T>GSubstitution - Missense
GYS2ENSG00000111713ENST00000261195p.H145delHc.433_435delCATDeletion - In frame
DDX23ENSG00000174243ENST00000308025p.H803Nc.2407C>ASubstitution - Missense
KRT6AENSG00000205420ENST00000330722p.E351Kc.1051G>ASubstitution - Missense
ADCY4ENSG00000129467ENST00000310677p.?c.2733+3G>AUnknown
HPSE2ENSG00000172987ENST00000370546p.D159Dc.477T>CSubstitution - coding silent
CCDC82ENSG00000149231ENST00000278520p.H129Rc.386A>GSubstitution - Missense
KIAA1033ENSG00000136051ENST00000332180p.Y155Yc.465T>CSubstitution - coding silent


COSMIC

2 mutations reported
0 synonymous mutations reported
Filter:
External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
TP53ENSG00000141510ENST00000269305p.K132Rc.?Substitution - Missense19372580
NM_006218.1p.H1047Rc.?Substitution - Missense19372580