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D-283MED - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

342 mutations reported
98 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
NEFHENSG00000100285ENST00000310624p.E658_E659delEEc.1970_1975delAGGAAGDeletion - In frame
ANKRD18AENSG00000180071ENST00000399703p.Q21Pc.62A>CSubstitution - Missense
MCF2LENSG00000126217ENST00000375601p.L844Lc.2532C>GSubstitution - coding silent
MUC20ENSG00000176945ENST00000447234p.D653Dc.1959C>TSubstitution - coding silent
EFR3BENSG00000084710ENST00000264719p.S558Sc.1674G>CSubstitution - coding silent
ENST00000404449p.C427Wc.1281C>GSubstitution - Missense
RGS12ENSG00000159788ENST00000344733p.G1394Rc.4180G>CSubstitution - Missense
ENST00000539307p.S177Yc.530C>ASubstitution - Missense
ENST00000318560_v70p.A969Tc.2905G>ASubstitution - Missense
C9orf117ENSG00000160401ENST00000373295p.N78Nc.234T>CSubstitution - coding silent
KITENSG00000157404ENST00000288135p.D737Hc.2209G>CSubstitution - Missense
ACADSBENSG00000196177ENST00000358776p.?c.681+5G>CUnknown
ANAPC7ENSG00000196510ENST00000455511p.?c.1610+6C>TUnknown
NM_016238.1p.?c.1508+6C>TUnknown
DPYSENSG00000147647ENST00000351513p.F101Fc.303C>TSubstitution - coding silent
DCNENSG00000011465ENST00000052754p.T224Mc.671C>TSubstitution - Missense
TXNRD1ENSG00000198431ENST00000378070p.N101Sc.302A>GSubstitution - Missense
ENST00000341258p.T437Ic.1310C>TSubstitution - Missense
ASAH1ENSG00000104763ENST00000314146p.L235Lc.703C>TSubstitution - coding silent
HLA-CENSG00000204525ENST00000383329p.S140Yc.419C>ASubstitution - Missense
KRT14ENSG00000186847ENST00000167586p.A179Ac.537C>ASubstitution - coding silent
MEGF8ENSG00000105429ENST00000251268p.R1326Wc.3976C>TSubstitution - Missense
NRDE2ENSG00000119720ENST00000354366p.A540Vc.1619C>TSubstitution - Missense
ENST00000434864p.R138Qc.413G>ASubstitution - Missense
POTEDENSG00000166351ENST00000299443p.G229Dc.686G>ASubstitution - Missense
ADAM11ENSG00000073670ENST00000200557p.?c.238-6A>CUnknown
RGS12ENSG00000159788ENST00000338806p.G746Rc.2236G>CSubstitution - Missense
LYSTENSG00000143669ENST00000389793p.A2360Ac.7080T>ASubstitution - coding silent
ENST00000398840p.?c.119-2A>CUnknown
MUC4ENSG00000145113ENST00000463781p.V2281Ac.6842T>CSubstitution - Missense
CHD5ENSG00000116254ENST00000262450p.A1873Ac.5619C>GSubstitution - coding silent
SSBP3ENSG00000157216ENST00000371319p.A130Tc.388G>ASubstitution - Missense
SERPINC1ENSG00000117601ENST00000367698p.T117Mc.350C>TSubstitution - Missense
SU_Erk7p.R489Qc.1466G>ASubstitution - Missense
AFAP1ENSG00000196526ENST00000420658p.?c.1530+7G>AUnknown
AFAP1ENSG00000196526ENST00000360265p.?c.1530+7G>AUnknown
MYH14ENSG00000105357ENST00000262269p.R1649Qc.4946G>ASubstitution - Missense
IGSF10ENSG00000152580ENST00000282466p.T1450Ac.4348A>GSubstitution - Missense
SLC22A7ENSG00000137204ENST00000372585p.P52Lc.155C>TSubstitution - Missense
RSPO3ENSG00000146374ENST00000356698p.?c.635-7A>CUnknown
RAB3GAP1ENSG00000115839ENST00000539493p.N338Dc.1012A>GSubstitution - Missense
FCRL5ENSG00000143297ENST00000356953p.S530Cc.1589C>GSubstitution - Missense
ZC3H13ENSG00000123200ENST00000282007p.R66Hc.197G>ASubstitution - Missense
BNIP1ENSG00000113734ENST00000231668p.R55Hc.164G>ASubstitution - Missense
DENND4BENSG00000198837ENST00000361217p.S1329Sc.3987G>ASubstitution - coding silent
MCF2LENSG00000126217ENST00000375604p.L897Lc.2691C>GSubstitution - coding silent
ZNF814ENSG00000204514ENST00000435989p.Q511Lc.1532A>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.D2525Ec.7575C>ASubstitution - Missense
ENST00000360660p.S71Cc.212C>GSubstitution - Missense
GNB4ENSG00000114450ENST00000232564p.R46Lc.137G>TSubstitution - Missense
FLG2ENSG00000143520ENST00000388718p.H1674Hc.5022T>CSubstitution - coding silent
MCF2LENSG00000126217ENST00000423482p.L838Lc.2514C>GSubstitution - coding silent
ENST00000312777_v70p.Q384Ec.1150C>GSubstitution - Missense
DZIP1ENSG00000134874ENST00000347108p.V116Vc.348G>CSubstitution - coding silent
ENST00000262870p.A167Ac.501C>TSubstitution - coding silent
TXNRD1ENSG00000198431ENST00000503506p.N2Sc.5A>GSubstitution - Missense
MON2ENSG00000061987ENST00000393632p.A1399Ac.4197G>ASubstitution - coding silent
MCF2LENSG00000126217ENST00000375608p.L870Lc.2610C>GSubstitution - coding silent
PRDM2ENSG00000116731ENST00000235372p.V618Ic.1852G>ASubstitution - Missense
AOC3ENSG00000131471ENST00000308423p.N592Sc.1775A>GSubstitution - Missense
DOC2AENSG00000149927ENST00000350119p.L134Lc.402G>CSubstitution - coding silent
RPN1ENSG00000163902ENST00000296255p.?c.844-10T>CUnknown
INSIG2ENSG00000125629ENST00000245787p.M203Tc.608T>CSubstitution - Missense
MCF2LENSG00000126217ENST00000434480p.L846Lc.2538C>GSubstitution - coding silent
IL25ENSG00000166090ENST00000329715p.R142Wc.424C>TSubstitution - Missense
GPR125ENSG00000152990ENST00000334304p.D1241Nc.3721G>ASubstitution - Missense
SYTL3ENSG00000164674ENST00000297239p.R524Rc.1572G>ASubstitution - coding silent
PRTFDC1ENSG00000099256ENST00000320152p.G126Gc.378C>TSubstitution - coding silent
ZSWIM5ENSG00000162415ENST00000359600p.H1156Rc.3467A>GSubstitution - Missense
ENST00000359032_v68p.E971Dc.2913G>CSubstitution - Missense
ENST00000405167p.D2525Ec.7575C>ASubstitution - Missense
TRRAPENSG00000196367ENST00000359863p.R1724Hc.5171G>ASubstitution - Missense
PPP1R10ENSG00000204569ENST00000376511p.T446Tc.1338A>GSubstitution - coding silent
ASAH1ENSG00000104763ENST00000381733p.L257Lc.769C>TSubstitution - coding silent
ZNF536ENSG00000198597ENST00000355537p.P1261Rc.3782C>GSubstitution - Missense
ABL1ENSG00000097007ENST00000372348p.A988Tc.2962G>ASubstitution - Missense
HLA-CENSG00000204525ENST00000376228p.S140Yc.419C>ASubstitution - Missense
ADAMTS16ENSG00000145536ENST00000274181p.P1118Sc.3352C>TSubstitution - Missense
TXNRD1ENSG00000198431ENST00000525566p.N152Sc.455A>GSubstitution - Missense
UBOX5ENSG00000185019ENST00000217173p.H423Rc.1268A>GSubstitution - Missense
MLXIPLENSG00000009950ENST00000313375p.L710Lc.2130G>ASubstitution - coding silent
NHSL1ENSG00000135540ENST00000343505p.E1218Qc.3652G>CSubstitution - Missense
ZNF780BENSG00000128000ENST00000434248p.S514Lc.1541C>TSubstitution - Missense
COL19A1ENSG00000082293ENST00000322773p.I178Mc.534A>GSubstitution - Missense
SNRKENSG00000163788ENST00000454177p.A436Tc.1306G>ASubstitution - Missense
FLG2ENSG00000143520ENST00000388718p.G1963Vc.5888G>TSubstitution - Missense
GAKENSG00000178950ENST00000314167p.H1000Hc.3000C>TSubstitution - coding silent
ZNF468ENSG00000204604ENST00000243639p.D35Dc.105C>TSubstitution - coding silent
ZNF736ENSG00000234444ENST00000355095p.E421Dc.1263G>TSubstitution - Missense
ALDH16A1ENSG00000161618ENST00000293350p.L439Mc.1315C>ASubstitution - Missense
DAB2IPENSG00000136848ENST00000309989p.A887Vc.2660C>TSubstitution - Missense
ENST00000251268_v61p.R1785Wc.5353C>TSubstitution - Missense
MEGF8ENSG00000105429ENST00000334370p.H1721Hc.5163C>TSubstitution - coding silent
AIG1ENSG00000146416ENST00000275235p.S154Rc.460A>CSubstitution - Missense
ANKRD35ENSG00000198483ENST00000355594p.R3Cc.7C>TSubstitution - Missense
LONP1ENSG00000196365ENST00000360614p.M569Ic.1707G>ASubstitution - Missense
AIM1ENSG00000112297ENST00000369066p.K437Nc.1311A>CSubstitution - Missense
FLG2ENSG00000143520ENST00000388718p.P1964Hc.5891C>ASubstitution - Missense
ACIN1ENSG00000100813ENST00000262710p.R3Gc.7A>GSubstitution - Missense
KRTAP4-16PENSG00000241241ENST00000440582p.P191Lc.572C>TSubstitution - Missense
SRRM1ENSG00000133226ENST00000447431p.K546Rc.1637A>GSubstitution - Missense
ITGA11ENSG00000137809ENST00000315757p.M803Ic.2409G>ASubstitution - Missense
SLC17A4ENSG00000146039ENST00000377905p.C223*c.669C>ASubstitution - Nonsense
ZNF253ENSG00000256771ENST00000355650p.E449Dc.1347G>TSubstitution - Missense
CD2BP2ENSG00000169217ENST00000305596p.L225Wc.674T>GSubstitution - Missense
ACAP2ENSG00000114331ENST00000326793p.?c.1953+7G>AUnknown
TESPA1ENSG00000135426ENST00000449076p.L336Fc.1008G>TSubstitution - Missense
SYT15ENSG00000204176ENST00000374325p.K327fs*20c.979_980delAADeletion - Frameshift
PKD1L2ENSG00000166473ENST00000525539p.F321Fc.963T>CSubstitution - coding silent
DOCK6ENSG00000130158ENST00000319867p.R1638Gc.4912C>GSubstitution - Missense
HUWE1ENSG00000086758ENST00000342160p.R1992Qc.5975G>ASubstitution - Missense
AFF3ENSG00000144218ENST00000356421p.I330Tc.989T>CSubstitution - Missense
FCGBPENSG00000090920ENST00000221347p.P1534Qc.4601C>ASubstitution - Missense
SECISBP2ENSG00000187742ENST00000375807p.P214Lc.641C>TSubstitution - Missense
CMYA5ENSG00000164309ENST00000446378p.T2899Tc.8697A>GSubstitution - coding silent
GPR174ENSG00000147138ENST00000276077p.P289Pc.867A>TSubstitution - coding silent
DMPKENSG00000104936ENST00000343373p.Q102Hc.306G>CSubstitution - Missense
SYTL5ENSG00000147041ENST00000456733p.K249Tc.746A>CSubstitution - Missense
SYT15ENSG00000204176ENST00000374321p.K327fs*20c.979_980delAADeletion - Frameshift
GRTP1ENSG00000139835ENST00000375430p.R76Cc.226C>TSubstitution - Missense
SLC25A47ENSG00000140107ENST00000361529p.T29Tc.87G>ASubstitution - coding silent
PTX4ENSG00000251692ENST00000447419p.R380Hc.1139G>ASubstitution - Missense
ENST00000544929p.G219Gc.657A>GSubstitution - coding silent
EFR3BENSG00000084710ENST00000403714p.S706Sc.2118G>CSubstitution - coding silent
NM_003895.2p.D1351Yc.4051G>TSubstitution - Missense
ADAMTS3ENSG00000156140ENST00000286657p.P183Pc.549C>TSubstitution - coding silent
CCDC158ENSG00000163749ENST00000388914p.?c.288+10C>AUnknown
MUC16ENSG00000181143ENST00000380951p.S285Ic.854G>TSubstitution - Missense
BIKENSG00000100290ENST00000216115p.P125Pc.375G>ASubstitution - coding silent
TM4SF18ENSG00000163762ENST00000296059p.P16Tc.46C>ASubstitution - Missense
ENST00000405167p.V2281Ac.6842T>CSubstitution - Missense
CCDC39ENSG00000145075ENST00000273654p.R135Lc.404G>TSubstitution - Missense
ZNF594ENSG00000180626ENST00000399604p.R785Gc.2353A>GSubstitution - Missense
FOCADENSG00000188352ENST00000380249p.H602Rc.1805A>GSubstitution - Missense
TMEM43ENSG00000170876ENST00000306077p.E142Qc.424G>CSubstitution - Missense
FER1L6ENSG00000214814ENST00000399018p.N1290Nc.3870T>CSubstitution - coding silent
RNF6ENSG00000127870ENST00000346166p.S319Gc.955A>GSubstitution - Missense
TESPA1ENSG00000135426ENST00000316577p.L198Fc.594G>TSubstitution - Missense
NAV1ENSG00000134369ENST00000367296p.L933Vc.2797C>GSubstitution - Missense
CCDC141ENSG00000163492ENST00000343876p.P15Ac.43C>GSubstitution - Missense
NM_006904p.E1050delEc.3148_3150delGAGDeletion - In frame
RAP1GAP2ENSG00000132359ENST00000254695p.L494Pc.1481T>CSubstitution - Missense
FFAR3ENSG00000185897ENST00000327809p.V50Vc.150G>ASubstitution - coding silent
C6orf222ENSG00000189325ENST00000437635p.P641Lc.1922C>TSubstitution - Missense
ENST00000238522p.T2899Tc.8697A>GSubstitution - coding silent
C9orf66ENSG00000183784ENST00000382387p.H265Qc.795T>ASubstitution - Missense
CNTN6ENSG00000134115ENST00000446702p.M819Ic.2457G>ASubstitution - Missense
MAP3K19ENSG00000176601ENST00000375845p.E113*c.337G>TSubstitution - Nonsense
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
CLSTN1ENSG00000171603ENST00000377298p.P435Lc.1304C>TSubstitution - Missense
PSMD11ENSG00000108671ENST00000261712p.L111Ic.331T>ASubstitution - Missense
RAP1GAP2ENSG00000132359ENST00000254695p.L494Pc.1481T>CSubstitution - Missense
FILIP1ENSG00000118407ENST00000237172p.D797Yc.2389G>TSubstitution - Missense
RSPO3ENSG00000146374ENST00000368317p.?c.635-7A>CUnknown
C17orf104ENSG00000180336ENST00000409122p.A414Vc.1241C>TSubstitution - Missense
CCDC39ENSG00000145075ENST00000442201p.R51Lc.152G>TSubstitution - Missense
ZNF780BENSG00000128000ENST00000434248p.S514Lc.1541C>TSubstitution - Missense
OGNENSG00000106809ENST00000375561p.P283Sc.847C>TSubstitution - Missense
BGNENSG00000182492ENST00000331595p.T56Ic.167C>TSubstitution - Missense
BCAP29ENSG00000075790ENST00000379121p.V152Ic.454G>ASubstitution - Missense
HLA-GENSG00000204632ENST00000360323p.T8Tc.24C>TSubstitution - coding silent
CCNG1ENSG00000113328ENST00000393929p.Y161Cc.482A>GSubstitution - Missense
PABPC1ENSG00000070756ENST00000318607p.S4Nc.11G>ASubstitution - Missense
PSG2ENSG00000242221ENST00000406487p.S296Rc.888C>ASubstitution - Missense
MEGF8ENSG00000105429ENST00000334370p.R1718Wc.5152C>TSubstitution - Missense
MEGF8ENSG00000105429ENST00000251268p.H1329Hc.3987C>TSubstitution - coding silent
ENST00000251268_v61p.H1788Hc.5364C>TSubstitution - coding silent
NWD1ENSG00000188039ENST00000524140p.G1180Cc.3538G>TSubstitution - Missense
NWD1ENSG00000188039ENST00000339803p.G1045Cc.3133G>TSubstitution - Missense
CSNK2A1ENSG00000101266ENST00000349736p.P378Pc.1134C>TSubstitution - coding silent
SCARF2ENSG00000244486ENST00000266214p.V61Lc.181G>TSubstitution - Missense
ABL1ENSG00000097007ENST00000318560p.A969Tc.2905G>ASubstitution - Missense
DAB2IPENSG00000136848ENST00000259371p.A983Vc.2948C>TSubstitution - Missense
RGS3ENSG00000138835ENST00000374140p.?c.3015+3G>CUnknown
RGS3ENSG00000138835ENST00000343817p.?c.2172+3G>CUnknown
NM_144488.2p.?c.2703+3G>CUnknown
NEK1ENSG00000137601ENST00000507142p.?c.2975-2A>TUnknown
NEK1ENSG00000137601ENST00000507142p.?c.2975-2A>TUnknown
TXNRD1ENSG00000198431ENST00000427956p.N117Sc.350A>GSubstitution - Missense
TNKS1BP1ENSG00000149115ENST00000358252p.T575Ac.1723A>GSubstitution - Missense
OR5AK2ENSG00000181273ENST00000326855p.F68Sc.203T>CSubstitution - Missense
OR52D1ENSG00000181609ENST00000322641p.I294Lc.880A>CSubstitution - Missense
FCRL5ENSG00000143297ENST00000368189p.S530Cc.1589C>GSubstitution - Missense
ZC3H13ENSG00000123200ENST00000242848p.R66Hc.197G>ASubstitution - Missense
MON2ENSG00000061987ENST00000280379p.A1400Ac.4200G>ASubstitution - coding silent
ADAM11ENSG00000073670ENST00000200557p.?c.238-6A>CUnknown
KRT16ENSG00000186832ENST00000301653p.S451Wc.1352C>GSubstitution - Missense
C20orf26ENSG00000089101ENST00000377306p.G264Rc.790G>ASubstitution - Missense
KIR2DL3ENSG00000243772ENST00000434419p.K343Nc.1029A>CSubstitution - Missense
MYH14ENSG00000105357ENST00000440075p.R1649Qc.4946G>ASubstitution - Missense
SYT15ENSG00000204176ENST00000374323p.K380fs*20c.1138_1139delAADeletion - Frameshift
CEP97ENSG00000182504ENST00000341893p.R220Rc.660G>ASubstitution - coding silent
CEP97ENSG00000182504ENST00000327230p.R220Rc.660G>ASubstitution - coding silent
FILIP1ENSG00000118407ENST00000393004p.D797Yc.2389G>TSubstitution - Missense
SLC22A7ENSG00000137204ENST00000372574p.P52Lc.155C>TSubstitution - Missense
SLC22A7ENSG00000137204ENST00000449231p.P52Lc.155C>TSubstitution - Missense
AIG1ENSG00000146416ENST00000275235p.S154Ic.461G>TSubstitution - Missense
C9orf24ENSG00000164972ENST00000444429p.?c.31+6T>CUnknown
ADAMTS7ENSG00000136378ENST00000388820p.W1379Gc.4135T>GSubstitution - Missense
KRT2ENSG00000172867ENST00000309680p.D494Hc.1480G>CSubstitution - Missense
EIF3JENSG00000104131ENST00000261868p.A141Vc.422C>TSubstitution - Missense
DNAH10ENSG00000197653ENST00000409039p.R457Wc.1369C>TSubstitution - Missense
CEP164ENSG00000110274ENST00000278935p.T191Tc.573C>GSubstitution - coding silent
PLEKHO1ENSG00000023902ENST00000369124p.R236Qc.707G>ASubstitution - Missense
ENSG00000178404ENST00000322630p.P219fs*32c.656delCDeletion - Frameshift
RHPN2ENSG00000131941ENST00000254260p.A29Vc.86C>TSubstitution - Missense
ENST00000310542p.M1Ic.3G>ASubstitution - Missense
SMARCC1ENSG00000173473ENST00000254480p.I187Tc.560T>CSubstitution - Missense
SLC35G2ENSG00000168917ENST00000446465p.H18Rc.53A>GSubstitution - Missense
CHD5ENSG00000116254ENST00000378021p.A730Ac.2190C>GSubstitution - coding silent
NM_004667.3p.R2340Wc.7018C>TSubstitution - Missense
CCDC141ENSG00000163492ENST00000409284p.P590Ac.1768C>GSubstitution - Missense
TIA1ENSG00000116001ENST00000433529p.R379Rc.1137A>GSubstitution - coding silent
SAGENSG00000130561ENST00000409110p.R193*c.577C>TSubstitution - Nonsense
ENST00000215591p.P856Pc.2568G>ASubstitution - coding silent
POLRMTENSG00000099821ENST00000588649p.P871Pc.2613G>ASubstitution - coding silent
POLR2AENSG00000181222ENST00000322644p.G858Gc.2574A>GSubstitution - coding silent
ENST00000293218_v68p.A68Ac.204G>TSubstitution - coding silent
CCDC144AENSG00000170160ENST00000456009p.T863Tc.2589G>ASubstitution - coding silent
TEKT3ENSG00000125409ENST00000395930p.D209Ec.627C>ASubstitution - Missense
AP2A1ENSG00000196961ENST00000359032p.E971Dc.2913G>CSubstitution - Missense
ZNF831ENSG00000124203ENST00000371030p.P11Lc.32C>TSubstitution - Missense
BCAS1ENSG00000064787ENST00000411563p.M163fs*>3c.488_489insTInsertion - Frameshift
TKTENSG00000163931ENST00000462138p.D106Yc.316G>TSubstitution - Missense
C9orf24ENSG00000164972ENST00000297623p.?c.135+6T>CUnknown
KIAA0020ENSG00000080608ENST00000397885p.L265Vc.793T>GSubstitution - Missense
PTK2BENSG00000120899ENST00000397501p.P724Sc.2170C>TSubstitution - Missense
PTK2BENSG00000120899ENST00000544172p.P724Sc.2170C>TSubstitution - Missense
PTK2BENSG00000120899ENST00000397497p.P470Sc.1408C>TSubstitution - Missense
KSR1ENSG00000141068ENST00000319524p.E786Kc.2356G>ASubstitution - Missense
SGSM2ENSG00000141258ENST00000268989p.V541Mc.1621G>ASubstitution - Missense
CSHL1ENSG00000204414ENST00000309894p.T169Ic.506C>TSubstitution - Missense
CSHL1ENSG00000204414ENST00000561003p.D170Dc.510C>TSubstitution - coding silent
TACO1ENSG00000136463ENST00000258975p.K73Kc.219G>ASubstitution - coding silent
SYNJ1ENSG00000159082ENST00000433931p.D1390Yc.4168G>TSubstitution - Missense
PARP12ENSG00000059378ENST00000263549p.H199Rc.596A>GSubstitution - Missense
ASAH1ENSG00000104763ENST00000262097p.L241Lc.721C>TSubstitution - coding silent
KIR2DL1ENSG00000125498ENST00000336077p.E208Dc.624G>CSubstitution - Missense
KIR2DL1ENSG00000125498ENST00000336077p.K343Nc.1029A>CSubstitution - Missense
GREB1LENSG00000141449ENST00000424526p.C426Wc.1278C>GSubstitution - Missense
POTECENSG00000183206ENST00000358970p.V135Lc.403G>CSubstitution - Missense
CREBBPENSG00000005339ENST00000262367p.?c.2464-7C>GUnknown
SLC5A2ENSG00000140675ENST00000330498p.A458Vc.1373C>TSubstitution - Missense
ENST00000544929p.S221Lc.662C>TSubstitution - Missense
LILRA6ENSG00000244482ENST00000396365p.R295Sc.885G>CSubstitution - Missense
ENST00000381954p.D464Dc.1392C>TSubstitution - coding silent
CYP2U1ENSG00000155016ENST00000332884p.G214*c.640G>TSubstitution - Nonsense
ZNF518BENSG00000178163ENST00000326756p.V766Ac.2297T>CSubstitution - Missense
XM_497119.1p.R1855Qc.5564G>ASubstitution - Missense
SYTL5ENSG00000147041ENST00000297875p.K249Tc.746A>CSubstitution - Missense
PRKDCENSG00000253729ENST00000314191p.E1050delEc.3148_3150delGAGDeletion - In frame
GPS2ENSG00000132522ENST00000389167p.Y164fs*1c.492delCDeletion - Frameshift
ABCA10ENSG00000154263ENST00000269081p.P1194Pc.3582A>GSubstitution - coding silent
CAPN15ENSG00000103326ENST00000219611p.M1Lc.1A>CSubstitution - Missense
PLCD1ENSG00000187091ENST00000463876p.R548Cc.1642C>TSubstitution - Missense
PLCD1ENSG00000187091ENST00000334661p.R527Cc.1579C>TSubstitution - Missense
NM_005496.2p.Y629Cc.1886A>GSubstitution - Missense
MTHFD1LENSG00000120254ENST00000367321p.A467Sc.1399G>TSubstitution - Missense
AIG1ENSG00000146416ENST00000357847p.S154Rc.460A>CSubstitution - Missense
AIG1ENSG00000146416ENST00000357847p.S154Ic.461G>TSubstitution - Missense
NHSL1ENSG00000135540ENST00000342260p.E1222Qc.3664G>CSubstitution - Missense
SYTL3ENSG00000164674ENST00000360448p.R456Rc.1368G>ASubstitution - coding silent
ENST00000539592p.I506Vc.1516A>GSubstitution - Missense
SAGENSG00000130561ENST00000409110p.R193*c.577C>TSubstitution - Nonsense
NCLENSG00000115053ENST00000322723p.G594Sc.1780G>ASubstitution - Missense
MRPS27ENSG00000113048ENST00000261413p.V6Vc.18G>ASubstitution - coding silent
PTPN23ENSG00000076201ENST00000265562p.R1369Hc.4106G>ASubstitution - Missense
SNRKENSG00000163788ENST00000454177p.A436Tc.1306G>ASubstitution - Missense
PNPLA3ENSG00000100344ENST00000216180p.P103Qc.308C>ASubstitution - Missense
TTLL1ENSG00000100271ENST00000266254p.?c.1143-5T>CUnknown
EPHB4ENSG00000196411ENST00000358173p.T356Sc.1067C>GSubstitution - Missense
MTMR8ENSG00000102043ENST00000374852p.E547Ec.1641G>ASubstitution - coding silent
ENST00000307015p.S120Nc.359G>ASubstitution - Missense
DMPKENSG00000104936ENST00000291270p.Q92Hc.276G>CSubstitution - Missense
PBX4ENSG00000105717ENST00000251203p.R150Cc.448C>TSubstitution - Missense
RAB3GAP1ENSG00000115839ENST00000264158p.N382Dc.1144A>GSubstitution - Missense
EDIL3ENSG00000164176ENST00000296591p.S375*c.1124C>ASubstitution - Nonsense
PKHD1L1ENSG00000205038ENST00000378402p.P4149Pc.12447G>ASubstitution - coding silent
TRRAPENSG00000196367ENST00000355540p.R1706Hc.5117G>ASubstitution - Missense
C20orf26ENSG00000089101ENST00000245957p.G264Rc.790G>ASubstitution - Missense
DENND4BENSG00000198837ENST00000361217p.S1217Sc.3651G>ASubstitution - coding silent
DKKL1ENSG00000104901ENST00000221498p.R205Hc.614G>ASubstitution - Missense
ENST00000398840_v65p.?c.119-2A>CUnknown
FBN2ENSG00000138829ENST00000508053p.T235Mc.704C>TSubstitution - Missense
FBN2ENSG00000138829ENST00000262464p.T235Mc.704C>TSubstitution - Missense
DZIP1ENSG00000134874ENST00000361396p.V116Vc.348G>CSubstitution - coding silent
TCHPENSG00000139437ENST00000312777p.Q384Ec.1150C>GSubstitution - Missense
FOXO1ENSG00000150907ENST00000379561p.S406Sc.1218G>ASubstitution - coding silent
FOXO1ENSG00000150907ENST00000379561p.S406Sc.1218G>ASubstitution - coding silent
SYT15ENSG00000204176ENST00000374325p.K379fs*20c.1135_1136delAADeletion - Frameshift
OR13A1ENSG00000256574ENST00000553795p.K313Rc.938A>GSubstitution - Missense
LRP1ENSG00000123384ENST00000243077p.R2032Hc.6095G>ASubstitution - Missense
MYO1AENSG00000166866ENST00000300119p.N197Kc.591C>ASubstitution - Missense
FCRL5ENSG00000143297ENST00000361835p.S530Cc.1589C>GSubstitution - Missense
ENST00000366638p.A867Vc.2600C>TSubstitution - Missense
ADAMTS7ENSG00000136378ENST00000388820p.M610Ic.1830G>ASubstitution - Missense
FAM111BENSG00000189057ENST00000343597p.V131Vc.393T>CSubstitution - coding silent
AHNAK2ENSG00000185567ENST00000333244p.A1190Ac.3570A>GSubstitution - coding silent
AHNAK2ENSG00000185567ENST00000333244p.A1190Ec.3569C>ASubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.L4169Hc.12506T>ASubstitution - Missense
TACC2ENSG00000138162ENST00000369005p.T2503Tc.7509C>GSubstitution - coding silent
TACC2ENSG00000138162ENST00000453444p.T2507Tc.7521C>GSubstitution - coding silent
DCLRE1AENSG00000198924ENST00000369305p.S896Tc.2686T>ASubstitution - Missense
WDR64ENSG00000162843ENST00000366552p.T884Ic.2651C>TSubstitution - Missense
FMO6PENSG00000117507ENST00000236166p.?c.321+8T>GUnknown
METTL18ENSG00000171806ENST00000303469p.V191fs*29c.564_565insAInsertion - Frameshift
TEX35ENSG00000240021ENST00000319416p.T214Ac.640A>GSubstitution - Missense
KBTBD3ENSG00000182359ENST00000526793p.D403Nc.1207G>ASubstitution - Missense
ENO2ENSG00000111674ENST00000541477p.D297Yc.889G>TSubstitution - Missense
IFT140ENSG00000187535ENST00000426508p.A962Ac.2886G>ASubstitution - coding silent
PTX4ENSG00000251692ENST00000293922p.R375Hc.1124G>ASubstitution - Missense
PRG4ENSG00000116690ENST00000445192p.E865Dc.2595G>TSubstitution - Missense
ALDH6A1ENSG00000119711ENST00000553458p.A132Gc.395C>GSubstitution - Missense
ERCC6ENSG00000225830ENST00000355832p.P1095Ac.3283C>GSubstitution - Missense
C10orf71ENSG00000177354ENST00000323868p.R467Qc.1400G>ASubstitution - Missense
C10orf71ENSG00000177354ENST00000374144p.R467Qc.1400G>ASubstitution - Missense
ENSG00000188897ENST00000344649p.R446Wc.1336C>TSubstitution - Missense
SSBP3ENSG00000157216ENST00000371320p.A157Tc.469G>ASubstitution - Missense
POGKENSG00000143157ENST00000367875p.A352Ac.1056G>ASubstitution - coding silent
EFCAB4BENSG00000130038ENST00000440314p.R583Hc.1748G>ASubstitution - Missense
CACNA1CENSG00000151067ENST00000399634p.S1868Fc.5603C>TSubstitution - Missense
PLEKHA6ENSG00000143850ENST00000272203p.W65Cc.195G>TSubstitution - Missense
PAQR7ENSG00000182749ENST00000374296p.P12Sc.34C>TSubstitution - Missense
ENST00000339192p.R275Wc.823C>TSubstitution - Missense
ENST00000417249p.M544Tc.1631T>CSubstitution - Missense
DIO2ENSG00000211448ENST00000555750p.A231Sc.691G>TSubstitution - Missense
DIO2ENSG00000211448ENST00000438257p.A195Sc.583G>TSubstitution - Missense
GRTP1ENSG00000139835ENST00000375431p.R76Cc.226C>TSubstitution - Missense
HSP90AA1ENSG00000080824ENST00000334701p.K269Nc.807A>CSubstitution - Missense
NM_017936.3p.M531Tc.1592T>CSubstitution - Missense
C5orf42ENSG00000197603ENST00000425232p.P728Ac.2182C>GSubstitution - Missense
ENST00000414268p.P209Sc.625C>TSubstitution - Missense
FMN1ENSG00000248905ENST00000320930p.P209Sc.625C>TSubstitution - Missense
ZMYND15ENSG00000141497ENST00000433935p.A680delAc.2035_2037delGCGDeletion - In frame
ZMYND15ENSG00000141497ENST00000269289p.A641delAc.1918_1920delGCGDeletion - In frame
PKD1L2ENSG00000166473ENST00000337114p.F321Fc.963T>CSubstitution - coding silent
VAT1LENSG00000171724ENST00000302536p.Y307Dc.919T>GSubstitution - Missense
CARD6ENSG00000132357ENST00000254691p.M108Ic.324G>CSubstitution - Missense
CCDC141ENSG00000163492ENST00000420890p.P590Ac.1768C>GSubstitution - Missense
SEL1L2ENSG00000101251ENST00000284951p.H640Yc.1918C>TSubstitution - Missense
CYP7B1ENSG00000172817ENST00000310193p.G44Dc.131G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S13600Ic.40799G>TSubstitution - Missense


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