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G-402 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

525 mutations reported
200 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
PES1ENSG00000100029ENST00000354694p.R285Cc.853C>TSubstitution - Missense
MED23ENSG00000112282ENST00000368068p.L354Fc.1060C>TSubstitution - Missense
IFNA10ENSG00000186803ENST00000357374p.E106Qc.316G>CSubstitution - Missense
COL22A1ENSG00000169436ENST00000303045p.G946Wc.2836G>TSubstitution - Missense
SH2D3CENSG00000095370ENST00000314830p.S211Sc.633C>TSubstitution - coding silent
CEP170BENSG00000099814ENST00000556508p.G765Gc.2295C>TSubstitution - coding silent
C1orf198ENSG00000119280ENST00000366663p.A121Sc.361G>TSubstitution - Missense
ASB7ENSG00000183475ENST00000332783p.D316Gc.947A>GSubstitution - Missense
AHNAKENSG00000124942ENST00000378024p.G1083Rc.3247G>ASubstitution - Missense
DNAH7ENSG00000118997ENST00000312428p.V3804Ic.11410G>ASubstitution - Missense
ENST00000360191p.G175Dc.524G>ASubstitution - Missense
FAM105AENSG00000145569ENST00000274217p.W158*c.474G>ASubstitution - Nonsense
PADI2ENSG00000117115ENST00000375486p.K189*c.565A>TSubstitution - Nonsense
IL25ENSG00000166090ENST00000329715p.R142Wc.424C>TSubstitution - Missense
PDLIM1ENSG00000107438ENST00000329399p.P210Lc.629C>TSubstitution - Missense
DGKIENSG00000157680ENST00000424189p.I792Lc.2374A>CSubstitution - Missense
MAGI2ENSG00000187391ENST00000535697p.L266Lc.798A>CSubstitution - coding silent
GPR89AENSG00000117262ENST00000313835p.S162fs*20c.484delTDeletion - Frameshift
SCRIBENSG00000180900ENST00000356994p.T1342Tc.4026G>ASubstitution - coding silent
PPEF2ENSG00000156194ENST00000286719p.R118Cc.352C>TSubstitution - Missense
KANK1ENSG00000107104ENST00000382303p.E352Kc.1054G>ASubstitution - Missense
PAK6ENSG00000137843ENST00000441369p.P337Pc.1011G>TSubstitution - coding silent
ZBTB46ENSG00000130584ENST00000245663p.L49Lc.145C>TSubstitution - coding silent
OTUD4ENSG00000164164ENST00000454497p.G1010Gc.3030A>GSubstitution - coding silent
CSMD3ENSG00000164796ENST00000297405p.P1143Ac.3427C>GSubstitution - Missense
PBDC1ENSG00000102390ENST00000373358p.A157Sc.469G>TSubstitution - Missense
ZNF28ENSG00000198538ENST00000339844p.L15fs*15c.43_44delCTDeletion - Frameshift
SLC26A6ENSG00000225697ENST00000383733p.P296Pc.888C>TSubstitution - coding silent
SMC6ENSG00000163029ENST00000381272p.Q733Qc.2199A>GSubstitution - coding silent
LRRC73ENSG00000204052ENST00000372441p.R50Gc.148C>GSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.I856Ic.2568C>TSubstitution - coding silent
SH2D3CENSG00000095370ENST00000373276p.S143Sc.429C>TSubstitution - coding silent
MED23ENSG00000112282ENST00000403834p.L360Fc.1078C>TSubstitution - Missense
MYO10ENSG00000145555ENST00000513610p.?c.3990+4C>TUnknown
ANK2ENSG00000145362ENST00000506722p.T412Ic.1235C>TSubstitution - Missense
HEATR5AENSG00000129493ENST00000389961p.G1014Vc.3041G>TSubstitution - Missense
ZNF839ENSG00000022976ENST00000442396p.R921Hc.2762G>ASubstitution - Missense
RFX6ENSG00000185002ENST00000332958p.G55Gc.165C>TSubstitution - coding silent
SRRM2ENSG00000167978ENST00000301740p.S1444Fc.4331C>TSubstitution - Missense
ANK2ENSG00000145362ENST00000357077p.T433Ic.1298C>TSubstitution - Missense
SPTBN4ENSG00000160460ENST00000352632p.V307Gc.920T>GSubstitution - Missense
ASZ1ENSG00000154438ENST00000284629p.Q63Lc.188A>TSubstitution - Missense
FAM101BENSG00000183688ENST00000329099p.D138Nc.412G>ASubstitution - Missense
LMO7ENSG00000136153ENST00000465261p.?c.4065+4_4065+15delagagagcaaatcUnknown
TAS2R46ENSG00000226761ENST00000533467p.M172Vc.514A>GSubstitution - Missense
SERHL2ENSG00000183569ENST00000327678p.A238Tc.712G>ASubstitution - Missense
IGSF3ENSG00000143061ENST00000369483p.V441Ic.1321G>ASubstitution - Missense
DDX50ENSG00000107625ENST00000373585p.?c.1090-10T>GUnknown
ENST00000321016_v61p.P697Lc.2090C>TSubstitution - Missense
IGSF9BENSG00000080854ENST00000321016p.P153Lc.458C>TSubstitution - Missense
APOPT1ENSG00000256053ENST00000247618p.W93*c.278G>ASubstitution - Nonsense
ENST00000338282p.A1204Vc.3611C>TSubstitution - Missense
MYH8ENSG00000133020ENST00000403437p.L1800Ic.5398C>ASubstitution - Missense
ENST00000570743p.S846Nc.2537G>ASubstitution - Missense
ZNF423ENSG00000102935ENST00000561648p.P390Lc.1169C>TSubstitution - Missense
C17orf97ENSG00000187624ENST00000360127p.E260Kc.778G>ASubstitution - Missense
FREM3ENSG00000183090ENST00000329798p.S2053Ac.6157T>GSubstitution - Missense
SPHKAPENSG00000153820ENST00000392056p.A1167Ac.3501G>ASubstitution - coding silent
CYP2A6ENSG00000255974ENST00000301141p.V78Vc.234C>TSubstitution - coding silent
NF1ENSG00000196712ENST00000358273p.P1358Sc.4072C>TSubstitution - Missense
RALGDSENSG00000160271ENST00000372050p.L128Lc.384G>TSubstitution - coding silent
TTC21BENSG00000123607ENST00000243344p.L992Wc.2975T>GSubstitution - Missense
CAMSAP1ENSG00000130559ENST00000389532p.T1144Mc.3431C>TSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.Q483Lc.1448A>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.N991Nc.2973C>TSubstitution - coding silent
ZNF396ENSG00000186496ENST00000589332p.E118Ec.354G>ASubstitution - coding silent
TCIRG1ENSG00000110719ENST00000265686p.?c.1674-1G>AUnknown
GPR113ENSG00000173567ENST00000333478p.A623Tc.1867G>ASubstitution - Missense
IGDCC4ENSG00000103742ENST00000352385p.D916Nc.2746G>ASubstitution - Missense
USP25ENSG00000155313ENST00000285679p.Y810Yc.2430C>TSubstitution - coding silent
NLKENSG00000087095ENST00000407008p.P40Rc.119C>GSubstitution - Missense
C8orf58ENSG00000241852ENST00000289989p.H316Pc.947A>CSubstitution - Missense
ERMP1ENSG00000099219ENST00000339450p.H855Yc.2563C>TSubstitution - Missense
C9orf85ENSG00000155621ENST00000334731p.R12fs*45c.34delADeletion - Frameshift
SPATA13ENSG00000182957ENST00000382108p.K882Rc.2645A>GSubstitution - Missense
RTKNENSG00000114993ENST00000305557p.P549Pc.1647A>GSubstitution - coding silent
WDR1ENSG00000071127ENST00000499869p.T478Mc.1433C>TSubstitution - Missense
MAP1AENSG00000166963ENST00000300231p.E2588Qc.7762G>CSubstitution - Missense
SRSF10ENSG00000188529ENST00000492112p.S141Sc.423G>ASubstitution - coding silent
C11orf24ENSG00000171067ENST00000304271p.A445Ac.1335G>TSubstitution - coding silent
NM_015009.1p.I471Tc.1412T>CSubstitution - Missense
ENST00000434864p.R138Qc.413G>ASubstitution - Missense
TRPM3ENSG00000083067ENST00000377106p.R1506Hc.4517G>ASubstitution - Missense
DNAH2ENSG00000183914ENST00000389173p.C2154Wc.6462T>GSubstitution - Missense
ENST00000297027p.P107Lc.320C>TSubstitution - Missense
DNAJC5GENSG00000163793ENST00000296097p.N79Sc.236A>GSubstitution - Missense
IL17RAENSG00000177663ENST00000319363p.A411Vc.1232C>TSubstitution - Missense
UGT2A1ENSG00000173610ENST00000457664p.K341Kc.1023G>ASubstitution - coding silent
CATSPERGENSG00000099338ENST00000409235p.M6Vc.16A>GSubstitution - Missense
PDZRN3ENSG00000121440ENST00000535920p.I193Tc.578T>CSubstitution - Missense
FAT3ENSG00000165323ENST00000541502p.G585Gc.1755A>CSubstitution - coding silent
LRRN3ENSG00000173114ENST00000308478p.W40Lc.119G>TSubstitution - Missense
NID1ENSG00000116962ENST00000264187p.S129Fc.386C>TSubstitution - Missense
KDM4CENSG00000107077ENST00000420847p.P135Pc.405A>GSubstitution - coding silent
IGSF3ENSG00000143061ENST00000369483p.R485Pc.1454G>CSubstitution - Missense
IGSF3ENSG00000143061ENST00000369486p.R465Pc.1394G>CSubstitution - Missense
NM_007365.1p.K189*c.565A>TSubstitution - Nonsense
NM_007195.1p.R437Hc.1310G>ASubstitution - Missense
ERVW-1ENSG00000242950ENST00000493463p.R531Cc.1591C>TSubstitution - Missense
CCR4ENSG00000183813ENST00000330953p.N234Nc.702T>CSubstitution - coding silent
SSC5DENSG00000179954ENST00000389623p.P1385Pc.4155C>GSubstitution - coding silent
TACR3ENSG00000169836ENST00000304883p.L44Lc.132G>TSubstitution - coding silent
NIPSNAP1ENSG00000184117ENST00000216121p.L62fs*11c.185_186delTGDeletion - Frameshift
UCKL1ENSG00000198276ENST00000354216p.?c.923+9T>CUnknown
DNAJA3ENSG00000103423ENST00000262375p.A112Ac.336C>TSubstitution - coding silent
TUBB2BENSG00000137285ENST00000259818p.G235Rc.703G>ASubstitution - Missense
GPR125ENSG00000152990ENST00000334304p.L1036Fc.3108A>CSubstitution - Missense
SRSF10ENSG00000188529ENST00000344989p.S141Sc.423G>ASubstitution - coding silent
HIVEP3ENSG00000127124ENST00000372583p.G1101Sc.3301G>ASubstitution - Missense
SEMA6CENSG00000143434ENST00000341697p.S188Sc.564A>GSubstitution - coding silent
USP54ENSG00000166348ENST00000408019p.S949Nc.2846G>ASubstitution - Missense
KCNH5ENSG00000140015ENST00000322893p.H915Hc.2745C>TSubstitution - coding silent
ENSG00000212670ENST00000391366p.E5Ec.15G>ASubstitution - coding silent
PHLDA1ENSG00000139289ENST00000266671p.Q202_Q204delQQQc.579_587delGCAGCAACADeletion - In frame
UGT2A1ENSG00000173610ENST00000503640p.K332Kc.996G>ASubstitution - coding silent
NM_032217.3p.N2579Kc.7737T>GSubstitution - Missense
IGSF10ENSG00000152580ENST00000282466p.V548Ic.1642G>ASubstitution - Missense
CCT5ENSG00000150753ENST00000280326p.L299Vc.895C>GSubstitution - Missense
TNK2ENSG00000061938ENST00000333602p.D636Dc.1908C>TSubstitution - coding silent
KIF3BENSG00000101350ENST00000375712p.S741Pc.2221T>CSubstitution - Missense
CCDC36ENSG00000173421ENST00000438782p.P495Sc.1483C>TSubstitution - Missense
NF1ENSG00000196712ENST00000358273p.P1358Sc.4072C>TSubstitution - Missense
DHRS4L2ENSG00000187630ENST00000545240p.M19Ic.57G>ASubstitution - Missense
GUCY1A2ENSG00000152402ENST00000282249p.V653Lc.1957G>CSubstitution - Missense
TDRD6ENSG00000180113ENST00000316081p.E933Kc.2797G>ASubstitution - Missense
ADH7ENSG00000196344ENST00000209665p.M1Tc.2T>CSubstitution - Missense
AP3D1ENSG00000065000ENST00000355272p.D708Dc.2124C>TSubstitution - coding silent
SSTR4ENSG00000132671ENST00000255008p.P205Qc.614C>ASubstitution - Missense
DLK1ENSG00000185559ENST00000341267p.?c.131+7G>CUnknown
ENST00000401058p.G60Gc.180A>GSubstitution - coding silent
PLB1ENSG00000163803ENST00000422425p.E1334Dc.4002G>TSubstitution - Missense
NLRP12ENSG00000142405ENST00000324134p.?c.2757-8C>GUnknown
CHRNA4ENSG00000101204ENST00000370263p.V571Ic.1711G>ASubstitution - Missense
TPTEENSG00000166157ENST00000298232p.?c.1396-8C>TUnknown
TRMT10BENSG00000165275ENST00000297994p.?c.720+3_720+4insTAUnknown
OTUD4ENSG00000164164ENST00000447906p.G1075Gc.3225A>GSubstitution - coding silent
SSNA1ENSG00000176101ENST00000322310p.G115Gc.345C>TSubstitution - coding silent
CLPTM1ENSG00000104853ENST00000337392p.N119Nc.357C>TSubstitution - coding silent
TRIM32ENSG00000119401ENST00000450136p.R124Wc.370C>TSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.V599Ic.1795G>ASubstitution - Missense
ENST00000422992p.M172Vc.514A>GSubstitution - Missense
SLC2A5ENSG00000142583ENST00000377424p.T171Tc.513T>CSubstitution - coding silent
SLC2A5ENSG00000142583ENST00000377414p.T171Tc.513T>CSubstitution - coding silent
SGOL2ENSG00000163535ENST00000357799p.?c.3631+4G>TUnknown
DACT2ENSG00000164488ENST00000366796p.?c.731-2A>TUnknown
PDE7BENSG00000171408ENST00000308191p.R329Gc.985A>GSubstitution - Missense
DTWD2ENSG00000169570ENST00000510708p.K198Ec.592A>GSubstitution - Missense
ENST00000380689p.K241Nc.723G>CSubstitution - Missense
SPATA20ENSG00000006282ENST00000006658p.P512Pc.1536C>ASubstitution - coding silent
FAM160A2ENSG00000051009ENST00000265978p.L421Lc.1263G>TSubstitution - coding silent
TTC40ENSG00000171811ENST00000368586p.V1568Vc.4704C>ASubstitution - coding silent
GUCY2CENSG00000070019ENST00000261170p.P252Lc.755C>TSubstitution - Missense
WDFY2ENSG00000139668ENST00000298125p.L16Lc.46C>TSubstitution - coding silent
DOCK8ENSG00000107099ENST00000432829p.A1222Ac.3666G>ASubstitution - coding silent
LRRC40ENSG00000066557ENST00000370952p.T75Ac.223A>GSubstitution - Missense
ERRFI1ENSG00000116285ENST00000377482p.I158Vc.472A>GSubstitution - Missense
ZNF280DENSG00000137871ENST00000267807p.?c.499+6T>GUnknown
NOTCH2NLENSG00000213240ENST00000344859p.N193Sc.578A>GSubstitution - Missense
IGSF3ENSG00000143061ENST00000369486p.V421Ic.1261G>ASubstitution - Missense
TP53BP1ENSG00000067369ENST00000263801p.?c.5731+4C>GUnknown
TCEB3CENSG00000183791ENST00000330682p.E364Qc.1090G>CSubstitution - Missense
CALD1ENSG00000122786ENST00000361675p.H501Qc.1503C>ASubstitution - Missense
PPP1R1BENSG00000131771ENST00000580825p.?c.566-9G>AUnknown
IFT20ENSG00000109083ENST00000585089p.I57Lc.169A>TSubstitution - Missense
C22orf42ENSG00000205856ENST00000382097p.T152Tc.456G>ASubstitution - coding silent
ITGB8ENSG00000105855ENST00000222573p.H556Yc.1666C>TSubstitution - Missense
ITGB8ENSG00000105855ENST00000222573p.H556Yc.1666C>TSubstitution - Missense
ENST00000400460p.A55Ac.165A>GSubstitution - coding silent
MAP4K1ENSG00000104814ENST00000396857p.I158Tc.473T>CSubstitution - Missense
TAS2R39ENSG00000236398ENST00000446620p.R237Sc.711A>TSubstitution - Missense
LAMB4ENSG00000091128ENST00000205386p.G1009Gc.3027T>CSubstitution - coding silent
PPM1EENSG00000175175ENST00000308249p.H181Yc.541C>TSubstitution - Missense
HEATR5AENSG00000129493ENST00000404677p.G1020Vc.3059G>TSubstitution - Missense
SPATA13ENSG00000182957ENST00000343003p.K201Rc.602A>GSubstitution - Missense
TRIM22ENSG00000132274ENST00000379965p.L249Lc.747G>ASubstitution - coding silent
C9orf117ENSG00000160401ENST00000373295p.A28Ac.84C>TSubstitution - coding silent
RPS6KA1ENSG00000117676ENST00000531382p.Q406Lc.1217A>TSubstitution - Missense
LRRC23ENSG00000010626ENST00000007969p.E185Vc.554A>TSubstitution - Missense
CCDC34ENSG00000109881ENST00000328697p.R141Hc.422G>ASubstitution - Missense
DGKIENSG00000157680ENST00000288490p.I789Lc.2365A>CSubstitution - Missense
FAM178BENSG00000168754ENST00000393526p.L6Vc.16C>GSubstitution - Missense
CNN1ENSG00000130176ENST00000252456p.R185Wc.553C>TSubstitution - Missense
SETBP1ENSG00000152217ENST00000282030p.P902Pc.2706G>ASubstitution - coding silent
SIAH2ENSG00000181788ENST00000312960p.G63_A64insGc.173_174insCGGInsertion - In frame
TMEM175ENSG00000127419ENST00000264771p.R182Qc.545G>ASubstitution - Missense
WNK2ENSG00000165238ENST00000427277p.G1644Rc.4930G>ASubstitution - Missense
PCDH9ENSG00000184226ENST00000377861p.V626Lc.1876G>CSubstitution - Missense
DEC1ENSG00000173077ENST00000374016p.Y49Yc.147C>TSubstitution - coding silent
SH2D3CENSG00000095370ENST00000314830p.S211Sc.633C>TSubstitution - coding silent
C1orf63ENSG00000117616ENST00000243189p.S84Sc.252C>TSubstitution - coding silent
RTL1ENSG00000254656ENST00000534062p.S956Fc.2867C>TSubstitution - Missense
SOX13ENSG00000143842ENST00000367204p.M179Vc.535A>GSubstitution - Missense
GPR52ENSG00000203737ENST00000367685p.E248Ec.744G>ASubstitution - coding silent
TCP10ENSG00000203690ENST00000397829p.P308Lc.923C>TSubstitution - Missense
C17orf97ENSG00000187624ENST00000360127p.E260Kc.778G>ASubstitution - Missense
CCDC180ENSG00000197816ENST00000375202p.S1598Sc.4794C>GSubstitution - coding silent
IFT20ENSG00000109083ENST00000357896p.I31Lc.91A>TSubstitution - Missense
USP10ENSG00000103194ENST00000219473p.P437Pc.1311G>ASubstitution - coding silent
GCC2ENSG00000135968ENST00000309863p.P12Ac.34C>GSubstitution - Missense
PASKENSG00000115687ENST00000234040p.T943Pc.2827A>CSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
SH2D3CENSG00000095370ENST00000414380p.S28Sc.84C>TSubstitution - coding silent
NUTM1ENSG00000184507ENST00000333756p.I743Tc.2228T>CSubstitution - Missense
ADCK1ENSG00000063761ENST00000238561p.S388Lc.1163C>TSubstitution - Missense
ENST00000298047_v61p.G585Gc.1755A>CSubstitution - coding silent
KLHL5ENSG00000109790ENST00000504108p.H216Yc.646C>TSubstitution - Missense
MTERFD1ENSG00000156469ENST00000287025p.Y377*c.1131T>ASubstitution - Nonsense
ENST00000354485p.E352Kc.1054G>ASubstitution - Missense
KDM4CENSG00000107077ENST00000381306p.P791Pc.2373A>GSubstitution - coding silent
RSPH3ENSG00000130363ENST00000252655p.L205Vc.613C>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.N932Nc.2796C>TSubstitution - coding silent
TPPP3ENSG00000159713ENST00000393957p.D6Nc.16G>ASubstitution - Missense
NM_152632.1p.L295Sc.884T>CSubstitution - Missense
MYH10ENSG00000133026ENST00000269243p.A1574Ac.4722G>CSubstitution - coding silent
RALGDSENSG00000160271ENST00000372062p.L111Lc.333G>TSubstitution - coding silent
UTP15ENSG00000164338ENST00000296792p.?c.1043_1044+4delGGgtatUnknown
ZDHHC21ENSG00000175893ENST00000380916p.P79Lc.236C>TSubstitution - Missense
SLC22A2ENSG00000112499ENST00000366953p.F388Fc.1164C>TSubstitution - coding silent
PTPRRENSG00000153233ENST00000283228p.N450Sc.1349A>GSubstitution - Missense
ENST00000398118p.G255Sc.763G>ASubstitution - Missense
XM_036729.3p.E236Ec.708G>ASubstitution - coding silent
TTC40ENSG00000171811ENST00000368586p.V505Ic.1513G>ASubstitution - Missense
SEC24CENSG00000176986ENST00000345254p.T963Tc.2889C>TSubstitution - coding silent
GPR113ENSG00000173567ENST00000311519p.A822Tc.2464G>ASubstitution - Missense
NT5EENSG00000135318ENST00000369646p.A151Sc.451G>TSubstitution - Missense
SPTBN4ENSG00000160460ENST00000344104p.V307Gc.920T>GSubstitution - Missense
SPATA13ENSG00000182957ENST00000382095p.K257Rc.770A>GSubstitution - Missense
SLC12A1ENSG00000074803ENST00000396577p.A960Sc.2878G>TSubstitution - Missense
ARID5BENSG00000150347ENST00000279873p.Q1004Hc.3012G>TSubstitution - Missense
PARM1ENSG00000169116ENST00000307428p.G22Dc.65G>ASubstitution - Missense
RAD54BENSG00000197275ENST00000336148p.T660Tc.1980T>GSubstitution - coding silent
ABHD15ENSG00000168792ENST00000307201p.G364Vc.1091G>TSubstitution - Missense
STAU1ENSG00000124214ENST00000371856p.L126Fc.376C>TSubstitution - Missense
DAAM2ENSG00000146122ENST00000538976p.T621Tc.1863C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000265368p.N925Nc.2775C>TSubstitution - coding silent
CXorf22ENSG00000165164ENST00000297866p.L295Sc.884T>CSubstitution - Missense
OSBP2ENSG00000184792ENST00000403222p.?c.1597-5G>AUnknown
NM_007150.1p.V363Ic.1087G>ASubstitution - Missense
ENST00000347493p.N119Nc.357C>TSubstitution - coding silent
ELP5ENSG00000170291ENST00000573657p.R132Hc.395G>ASubstitution - Missense
KLHL5ENSG00000109790ENST00000381930p.H216Yc.646C>TSubstitution - Missense
ENST00000334436p.H95Hc.285C>TSubstitution - coding silent
PCDH9ENSG00000184226ENST00000377865p.V626Lc.1876G>CSubstitution - Missense
HHLA3ENSG00000197568ENST00000432224p.?c.258-2delaUnknown
RYR3ENSG00000198838ENST00000389232p.T2935Kc.8804C>ASubstitution - Missense
ENST00000344371p.D121Gc.362A>GSubstitution - Missense
CALD1ENSG00000122786ENST00000393118p.H266Qc.798C>ASubstitution - Missense
ZNF396ENSG00000186496ENST00000306346p.E118Ec.354G>ASubstitution - coding silent
C9orf85ENSG00000155621ENST00000377031p.R12fs*45c.34delADeletion - Frameshift
RSAD1ENSG00000136444ENST00000258955p.?c.475-10C>GUnknown
HOXA4ENSG00000197576ENST00000360046p.K275Ec.823A>GSubstitution - Missense
RASGEF1CENSG00000146090ENST00000393371p.R351Cc.1051C>TSubstitution - Missense
PLB1ENSG00000163803ENST00000327757p.E1345Dc.4035G>TSubstitution - Missense
ZNF778ENSG00000170100ENST00000433976p.F126Cc.377T>GSubstitution - Missense
MED23ENSG00000112282ENST00000540546p.L360Fc.1078C>TSubstitution - Missense
CACNA1IENSG00000100346ENST00000402142p.E1749Kc.5245G>ASubstitution - Missense
ZNF430ENSG00000118620ENST00000261560p.Y135Cc.404A>GSubstitution - Missense
C7orf31ENSG00000153790ENST00000283905p.T197Sc.589A>TSubstitution - Missense
ZNF396ENSG00000186496ENST00000586687p.E118Ec.354G>ASubstitution - coding silent
ILVBLENSG00000105135ENST00000263383p.V515Ic.1543G>ASubstitution - Missense
PDE6BENSG00000133256ENST00000255622p.S623Lc.1868C>TSubstitution - Missense
CEP104ENSG00000116198ENST00000378230p.N141Nc.423T>CSubstitution - coding silent
SU_DYRK4p.A440Vc.1319C>TSubstitution - Missense
PHRF1ENSG00000070047ENST00000416188p.P1612Pc.4836C>TSubstitution - coding silent
MYEOVENSG00000172927ENST00000308946p.G251fs*9c.747_769del23Deletion - Frameshift
DHRS4L2ENSG00000187630ENST00000382755p.M17Ic.51G>ASubstitution - Missense
NM_002849.2p.N450Sc.1349A>GSubstitution - Missense
USP47ENSG00000170242ENST00000339865p.R678Cc.2032C>TSubstitution - Missense
NLRC5ENSG00000140853ENST00000262510p.S455Sc.1365G>ASubstitution - coding silent
ZNF45ENSG00000124459ENST00000269973p.V489Vc.1467A>GSubstitution - coding silent
PKN1ENSG00000123143ENST00000342216p.?c.2234+1_2234+8delgtgtgtgcUnknown
PKN1ENSG00000123143ENST00000242783p.?c.2216+1_2216+8delgtgtgtgcUnknown
MFSD7ENSG00000169026ENST00000322224p.G226Rc.676G>ASubstitution - Missense
KDRENSG00000128052ENST00000263923p.G1108Gc.3324G>CSubstitution - coding silent
KIF5CENSG00000168280ENST00000435030p.E880Ec.2640G>ASubstitution - coding silent
ENST00000334436p.E783Ec.2349G>ASubstitution - coding silent
KIF5CENSG00000168280ENST00000435030p.H192Hc.576C>TSubstitution - coding silent
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
ENST00000400460p.T51Tc.153G>CSubstitution - coding silent
ENST00000400460p.L102Qc.305T>ASubstitution - Missense
ENST00000400460p.L102Lc.306A>CSubstitution - coding silent
ENSG00000215428ENST00000277491p.H52Hc.156C>TSubstitution - coding silent
NUP188ENSG00000095319ENST00000372577p.S1302Sc.3906C>TSubstitution - coding silent
CCBL1ENSG00000171097ENST00000302586p.R300Gc.898C>GSubstitution - Missense
AKNAENSG00000106948ENST00000307564p.G844Rc.2530G>CSubstitution - Missense
COL23A1ENSG00000050767ENST00000390654p.D310Nc.928G>ASubstitution - Missense
FAM193BENSG00000146067ENST00000443375p.G543Sc.1627G>ASubstitution - Missense
FAM131AENSG00000175182ENST00000383847p.E321Qc.961G>CSubstitution - Missense
FAM131AENSG00000175182ENST00000310585p.E290Qc.868G>CSubstitution - Missense
ZNF318ENSG00000171467ENST00000361428p.R2115Cc.6343C>TSubstitution - Missense
B3GALT4ENSG00000235863ENST00000451237p.R169*c.505C>TSubstitution - Nonsense
ARID5BENSG00000150347ENST00000309334p.Q761Hc.2283G>TSubstitution - Missense
OR5T1ENSG00000181698ENST00000313033p.H68Qc.204C>ASubstitution - Missense
USP47ENSG00000170242ENST00000399455p.R766Cc.2296C>TSubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.T3314Mc.9941C>TSubstitution - Missense
SEMA6CENSG00000143434ENST00000368913p.S188Sc.564A>GSubstitution - coding silent
MTHFRENSG00000177000ENST00000376583p.P426Pc.1278T>CSubstitution - coding silent
SMARCC2ENSG00000139613ENST00000267064p.P1124Pc.3372G>ASubstitution - coding silent
SMARCC2ENSG00000139613ENST00000267064p.P1124Pc.3372G>ASubstitution - coding silent
ALDH1A2ENSG00000128918ENST00000249750p.I6Tc.17T>CSubstitution - Missense
CDC42BPBENSG00000198752ENST00000361246p.A119Ac.357G>ASubstitution - coding silent
MAST2ENSG00000086015ENST00000372008p.S289*c.866C>GSubstitution - Nonsense
CEP104ENSG00000116198ENST00000378223p.N141Nc.423T>CSubstitution - coding silent
SRSF10ENSG00000188529ENST00000374452p.S141Sc.423G>ASubstitution - coding silent
AP3D1ENSG00000065000ENST00000356926p.D617Dc.1851C>TSubstitution - coding silent
MYH10ENSG00000133026ENST00000396239p.A1595Ac.4785G>CSubstitution - coding silent
CACNA1IENSG00000100346ENST00000336649p.E1755Kc.5263G>ASubstitution - Missense
CACNA1IENSG00000100346ENST00000400164p.E1714Kc.5140G>ASubstitution - Missense
OSBP2ENSG00000184792ENST00000382310p.?c.1948-5G>AUnknown
USP41ENSG00000161133ENST00000454608p.E221Ec.663G>ASubstitution - coding silent
STAU1ENSG00000124214ENST00000456866p.L85Fc.253C>TSubstitution - Missense
ENST00000378024_v70p.G1083Rc.3247G>ASubstitution - Missense
KLHL5ENSG00000109790ENST00000359687p.H216Yc.646C>TSubstitution - Missense
PDZRN3ENSG00000121440ENST00000263666p.I471Tc.1412T>CSubstitution - Missense
DOCK10ENSG00000135905ENST00000409592p.V646Vc.1938G>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000448038p.N932Nc.2796C>TSubstitution - coding silent
COL23A1ENSG00000050767ENST00000407622p.R308Qc.923G>ASubstitution - Missense
PCLOENSG00000186472ENST00000333891p.Q483Lc.1448A>TSubstitution - Missense
PCLOENSG00000186472ENST00000423517p.Q483Lc.1448A>TSubstitution - Missense
C7orf31ENSG00000153790ENST00000283905p.K196Kc.588G>ASubstitution - coding silent
LAMB4ENSG00000091128ENST00000388780p.G1009Gc.3027T>CSubstitution - coding silent
HRNRENSG00000197915ENST00000368801p.S2351Fc.7052C>TSubstitution - Missense
PBDC1ENSG00000102390ENST00000373357p.K119Nc.357G>TSubstitution - Missense
WNK2ENSG00000165238ENST00000395477p.G2032Rc.6094G>ASubstitution - Missense
CAMSAP1ENSG00000130559ENST00000409386p.T1155Mc.3464C>TSubstitution - Missense
RALGDSENSG00000160271ENST00000393157p.L127Lc.381G>TSubstitution - coding silent
CCBL1ENSG00000171097ENST00000436267p.R394Gc.1180C>GSubstitution - Missense
KCNJ5ENSG00000120457ENST00000338350p.M9Vc.25A>GSubstitution - Missense
ITPKBENSG00000143772ENST00000429204p.I896Sc.2687T>GSubstitution - Missense
MYH11ENSG00000133392ENST00000396324p.A1211Vc.3632C>TSubstitution - Missense
PRB3ENSG00000197870ENST00000538488p.R60Pc.179G>CSubstitution - Missense
DNHD1ENSG00000179532ENST00000254579p.R449Wc.1345C>TSubstitution - Missense
CCDC36ENSG00000173421ENST00000296449p.P495Sc.1483C>TSubstitution - Missense
RTEL1ENSG00000258366ENST00000370018p.?c.2992+6T>AUnknown
RTEL1ENSG00000258366ENST00000318100p.?c.2992+6T>AUnknown
RTEL1ENSG00000258366ENST00000508582p.?c.3064+6T>AUnknown
NLRP12ENSG00000142405ENST00000345770p.?c.2760-8C>GUnknown
MYH13ENSG00000006788ENST00000252172p.S846Nc.2537G>ASubstitution - Missense
TNK2ENSG00000061938ENST00000381916p.D714Dc.2142C>TSubstitution - coding silent
TNK2ENSG00000061938ENST00000333602p.D636Dc.1908C>TSubstitution - coding silent
PRR14LENSG00000183530ENST00000327423p.P156Pc.468G>ASubstitution - coding silent
PRR14LENSG00000183530ENST00000397493p.P156Pc.468G>ASubstitution - coding silent
OSBP2ENSG00000184792ENST00000332585p.?c.2095-5G>AUnknown
THOC5ENSG00000100296ENST00000397871p.T591Tc.1773C>GSubstitution - coding silent
ENST00000400001p.T479Mc.1436C>TSubstitution - Missense
ADH1AENSG00000187758ENST00000209668p.?c.260-6C>AUnknown
ZNF787ENSG00000142409ENST00000270459p.A21Vc.62C>TSubstitution - Missense
NMSENSG00000204640ENST00000376865p.A149Vc.446C>TSubstitution - Missense
ELP5ENSG00000170291ENST00000396628p.R132Hc.395G>ASubstitution - Missense
ELP5ENSG00000170291ENST00000356683p.R132Hc.395G>ASubstitution - Missense
ZBTB47ENSG00000114853ENST00000232974p.P645Pc.1935C>TSubstitution - coding silent
ARHGEF26ENSG00000114790ENST00000356448p.L864Fc.2592G>TSubstitution - Missense
ARHGEF26ENSG00000114790ENST00000356448p.L864Fc.2592G>TSubstitution - Missense
ARHGEF26ENSG00000114790ENST00000356448p.L864Fc.2592G>TSubstitution - Missense
RTKNENSG00000114993ENST00000272430p.P562Pc.1686A>GSubstitution - coding silent
SPRENSG00000116096ENST00000234454p.K226Kc.678G>ASubstitution - coding silent
RASGEF1CENSG00000146090ENST00000361132p.R351Cc.1051C>TSubstitution - Missense
BOD1L1ENSG00000038219ENST00000040738p.D1279Nc.3835G>ASubstitution - Missense
MAGI2ENSG00000187391ENST00000354212p.L429Lc.1287A>CSubstitution - coding silent
SYNE1ENSG00000131018ENST00000265368p.N925Nc.2775C>TSubstitution - coding silent
DOCK10ENSG00000135905ENST00000258390p.V652Vc.1956G>TSubstitution - coding silent
CCDC93ENSG00000125633ENST00000376300p.P439Lc.1316C>TSubstitution - Missense
XM_051221.5p.A1167Ac.3501G>ASubstitution - coding silent
SLC26A6ENSG00000225697ENST00000395550p.P296Pc.888C>TSubstitution - coding silent
FGD2ENSG00000146192ENST00000274963p.P25Lc.74C>TSubstitution - Missense
CCDC171ENSG00000164989ENST00000380701p.K974Nc.2922G>CSubstitution - Missense
ZDHHC21ENSG00000175893ENST00000380916p.H132Hc.396T>CSubstitution - coding silent
ZMYND19ENSG00000165724ENST00000298585p.E159Ec.477G>ASubstitution - coding silent
AP3D1ENSG00000065000ENST00000345016p.D708Dc.2124C>TSubstitution - coding silent
KIAA2018ENSG00000176542ENST00000316407p.Q1478_A1479insQQc.4418_4419insGCAGCAInsertion - In frame
FNIP1ENSG00000217128ENST00000510461p.V199Ic.595G>ASubstitution - Missense
TDO2ENSG00000151790ENST00000536354p.E89Dc.267G>TSubstitution - Missense
SOGA2ENSG00000168502ENST00000359865p.S385Sc.1155C>TSubstitution - coding silent
PCSK1ENSG00000175426ENST00000311106p.S650Sc.1950C>TSubstitution - coding silent
CSMD3ENSG00000164796ENST00000343508p.P1103Ac.3307C>GSubstitution - Missense
LAMA4ENSG00000112769ENST00000389463p.?c.3394-6T>CUnknown
CACNA1IENSG00000100346ENST00000404898p.E1714Kc.5140G>ASubstitution - Missense
OR1A2ENSG00000172150ENST00000381951p.H243fs*47c.727_728insAInsertion - Frameshift
NT5EENSG00000135318ENST00000257770p.A151Sc.451G>TSubstitution - Missense
MED23ENSG00000112282ENST00000354577p.L360Fc.1078C>TSubstitution - Missense
MAN1A1ENSG00000111885ENST00000368468p.?c.1211-9T>CUnknown
GNG10ENSG00000242616ENST00000374293p.S64Sc.192C>TSubstitution - coding silent
NM_004125.2p.S149Sc.447C>TSubstitution - coding silent
EFTUD2ENSG00000108883ENST00000426333p.T452Ic.1355C>TSubstitution - Missense
C17orf78ENSG00000167230ENST00000300618p.R27Qc.80G>ASubstitution - Missense
OR4D2ENSG00000255713ENST00000545221p.D11Ec.33C>ASubstitution - Missense
RALGDSENSG00000160271ENST00000542690p.L199Lc.597G>TSubstitution - coding silent
CELENSG00000170835ENST00000372080p.P729Tc.2185C>ASubstitution - Missense
NM_007181p.I158Tc.473T>CSubstitution - Missense
ZNF185ENSG00000147394ENST00000535861p.V632Ic.1894G>ASubstitution - Missense
C7orf66ENSG00000205174ENST00000379007p.P110Lc.329C>TSubstitution - Missense
LTAENSG00000226979ENST00000454783p.V109Ic.325G>ASubstitution - Missense
MYO10ENSG00000145555ENST00000274203p.?c.3990+4C>TUnknown
RP1L1ENSG00000183638ENST00000382483p.G1335Ac.4004G>CSubstitution - Missense
ACTR5ENSG00000101442ENST00000243903p.G462Rc.1384G>ASubstitution - Missense
FAM83DENSG00000101447ENST00000217429p.H391Rc.1172A>GSubstitution - Missense
ZNF285ENSG00000267508ENST00000330997p.G431Sc.1291G>ASubstitution - Missense
NOTCH2NLENSG00000213240ENST00000362074p.N193Sc.578A>GSubstitution - Missense
NOTCH2NLENSG00000213240ENST00000362074p.N193Sc.578A>GSubstitution - Missense
SBNO1ENSG00000139697ENST00000267176p.?c.1971-9C>GUnknown
SPTBENSG00000070182ENST00000389722p.S1413Nc.4238G>ASubstitution - Missense
SPTBENSG00000070182ENST00000542895p.S1413Nc.4238G>ASubstitution - Missense
SERBP1ENSG00000142864ENST00000370995p.P98Sc.292C>TSubstitution - Missense
ENST00000319474p.R111Rc.333G>ASubstitution - coding silent
XM_170754.4p.D209Yc.625G>TSubstitution - Missense
AGXT2ENSG00000113492ENST00000231420p.M215Lc.643A>TSubstitution - Missense
ENST00000414268p.D393Ec.1179T>GSubstitution - Missense
FMN1ENSG00000248905ENST00000320930p.D393Ec.1179T>GSubstitution - Missense
PARP4ENSG00000102699ENST00000381989p.?c.335-10T>GUnknown
PKD1L2ENSG00000166473ENST00000525539p.V1550Ic.4648G>ASubstitution - Missense
PKD1L2ENSG00000166473ENST00000525539p.S1219Rc.3657C>ASubstitution - Missense
TTNENSG00000155657ENST00000360870p.D4968Ec.14904C>ASubstitution - Missense
TNS1ENSG00000079308ENST00000171887p.G831Gc.2493G>ASubstitution - coding silent
WNK2ENSG00000165238ENST00000297954p.G2069Rc.6205G>ASubstitution - Missense
SU_WNK2p.G2017Rc.6049G>ASubstitution - Missense
BICD2ENSG00000185963ENST00000356884p.G600Gc.1800T>GSubstitution - coding silent
CHMP2AENSG00000130724ENST00000312547p.A162Tc.484G>ASubstitution - Missense
TNFRSF13BENSG00000240505ENST00000261652p.C271Wc.813C>GSubstitution - Missense
CGB1ENSG00000267631ENST00000301407p.V97Mc.289G>ASubstitution - Missense
TRPM3ENSG00000083067ENST00000377110p.R1634Hc.4901G>ASubstitution - Missense
TRPM3ENSG00000083067ENST00000377105p.R1493Hc.4478G>ASubstitution - Missense
TRPM3ENSG00000083067ENST00000423814p.R1638Hc.4913G>ASubstitution - Missense
ENST00000377290p.S336Rc.1008C>ASubstitution - Missense
KDM4CENSG00000107077ENST00000381309p.P791Pc.2373A>GSubstitution - coding silent
TMEM252ENSG00000181778ENST00000377311p.P145Sc.433C>TSubstitution - Missense
KANK1ENSG00000107104ENST00000382293p.E194Kc.580G>ASubstitution - Missense
AK3ENSG00000147853ENST00000381809p.T168Mc.503C>TSubstitution - Missense
TLN1ENSG00000137076ENST00000314888p.R2210Cc.6628C>TSubstitution - Missense
MED13ENSG00000108510ENST00000397786p.S202Nc.605G>ASubstitution - Missense
ENST00000375206p.S1543Sc.4629C>GSubstitution - coding silent
R3HCC1ENSG00000104679ENST00000265806p.T402Ic.1205C>TSubstitution - Missense
TNFRSF10CENSG00000173535ENST00000356864p.T214Ic.641C>TSubstitution - Missense
P4HBENSG00000185624ENST00000331483p.S427Sc.1281G>ASubstitution - coding silent
NM_016231p.P28Rc.83C>GSubstitution - Missense
CACNG4ENSG00000075461ENST00000262138p.G74Gc.222G>CSubstitution - coding silent
AIREENSG00000160224ENST00000291582p.P266Pc.798C>GSubstitution - coding silent
DSC1ENSG00000134765ENST00000257198p.V831Vc.2493G>TSubstitution - coding silent
NPFFR2ENSG00000056291ENST00000308744p.S519Ic.1556G>TSubstitution - Missense
FAM178BENSG00000168754ENST00000417561p.L714Vc.2140C>GSubstitution - Missense
USP25ENSG00000155313ENST00000400183p.Y880Yc.2640C>TSubstitution - coding silent
KRTAP4-6ENSG00000198090ENST00000345847p.R106Rc.318T>CSubstitution - coding silent
ZNF423ENSG00000102935ENST00000262383p.P390Lc.1169C>TSubstitution - Missense
NAAAENSG00000138744ENST00000286733p.D41Dc.123C>TSubstitution - coding silent
IMPDH2ENSG00000178035ENST00000326739p.?c.1295+9G>TUnknown
TBC1D1ENSG00000065882ENST00000261439p.A1104Tc.3310G>ASubstitution - Missense
ENST00000400482p.A321Dc.962C>ASubstitution - Missense
GRIK1ENSG00000171189ENST00000399907p.G274Gc.822C>TSubstitution - coding silent
GRIK1ENSG00000171189ENST00000389125p.G274Gc.822C>TSubstitution - coding silent
GRIK1ENSG00000171189ENST00000535441p.G274Gc.822C>TSubstitution - coding silent
DGKIENSG00000157680ENST00000288490p.I789Lc.2365A>CSubstitution - Missense
HIST1H4EENSG00000198518ENST00000360441p.L23Lc.67C>TSubstitution - coding silent
SOX4ENSG00000124766ENST00000244745p.S383Lc.1148C>TSubstitution - Missense
SCRIBENSG00000180900ENST00000356994p.T1342Tc.4026G>ASubstitution - coding silent
POLIENSG00000101751ENST00000579534p.R462Hc.1385G>ASubstitution - Missense
SMC6ENSG00000163029ENST00000448223p.Q707Qc.2121A>GSubstitution - coding silent
PPP1R12CENSG00000125503ENST00000263433p.V116Gc.347T>GSubstitution - Missense
ZNF778ENSG00000170100ENST00000306502p.F84Cc.251T>GSubstitution - Missense
CTU2ENSG00000174177ENST00000567949p.S145Sc.435C>TSubstitution - coding silent
DNAJA3ENSG00000103423ENST00000262375p.A112Ac.336C>TSubstitution - coding silent
PASKENSG00000115687ENST00000234040p.T943Pc.2827A>CSubstitution - Missense
TPTEENSG00000166157ENST00000361285p.?c.1450-8C>TUnknown
AHNAK2ENSG00000185567ENST00000333244p.P3052Lc.9155C>TSubstitution - Missense
DOCK8ENSG00000107099ENST00000453981p.A1290Ac.3870G>ASubstitution - coding silent
ADCK1ENSG00000063761ENST00000341211p.S320Lc.959C>TSubstitution - Missense
ATP2C2ENSG00000064270ENST00000262429p.V879Vc.2637C>TSubstitution - coding silent
POLHENSG00000170734ENST00000372236p.R356Qc.1067G>ASubstitution - Missense
SLC26A1ENSG00000145217ENST00000361661p.T562Mc.1685C>TSubstitution - Missense
MAML3ENSG00000196782ENST00000509479p.D1110Dc.3330C>TSubstitution - coding silent
MAML3ENSG00000196782ENST00000509479p.D1110Dc.3330C>TSubstitution - coding silent
ZC3HAV1ENSG00000105939ENST00000242351p.R791Hc.2372G>ASubstitution - Missense
NACAENSG00000196531ENST00000454682p.P1312Pc.3936T>CSubstitution - coding silent
TXNDC9ENSG00000115514ENST00000264255p.K122Rc.365A>GSubstitution - Missense
OR6C4ENSG00000179626ENST00000394256p.M24Vc.70A>GSubstitution - Missense
LMO7ENSG00000136153ENST00000341547p.?c.4027+4_4027+15delagagagcaaatcUnknown
LMO7ENSG00000136153ENST00000357063p.?c.4920+4_4920+15delagagagcaaatcUnknown
NM_152586.2p.S37Nc.110G>ASubstitution - Missense
NM_002221p.I422Sc.1265T>GSubstitution - Missense
ITPKBENSG00000143772ENST00000366784p.*645Cc.1935A>TNonstop extension
OR4B1ENSG00000175619ENST00000309562p.S260fs*21c.777delTDeletion - Frameshift
ACP2ENSG00000134575ENST00000256997p.G257Gc.771G>TSubstitution - coding silent
IFFO1ENSG00000010295ENST00000336604p.I522Ic.1566C>TSubstitution - coding silent
AVILENSG00000135407ENST00000257861p.I361Tc.1082T>CSubstitution - Missense
ZNF26ENSG00000198393ENST00000328654p.H472Hc.1416C>TSubstitution - coding silent
TENM4ENSG00000149256ENST00000278550p.F2370Fc.7110T>CSubstitution - coding silent
TENM4ENSG00000149256ENST00000278550p.F2370Fc.7110T>CSubstitution - coding silent
SYT9ENSG00000170743ENST00000318881p.D233Vc.698A>TSubstitution - Missense
DHRS4L2ENSG00000187630ENST00000335125p.M19Ic.57G>ASubstitution - Missense
CEP170BENSG00000099814ENST00000414716p.G835Gc.2505C>TSubstitution - coding silent
TTC40ENSG00000171811ENST00000368582p.V505Ic.1513G>ASubstitution - Missense
CDHR5ENSG00000099834ENST00000358353p.G827Vc.2480G>TSubstitution - Missense
DAGLAENSG00000134780ENST00000257215p.P601Pc.1803G>ASubstitution - coding silent
PHRF1ENSG00000070047ENST00000416188p.P1612Pc.4836C>TSubstitution - coding silent
NLRP3ENSG00000162711ENST00000391828p.K93*c.277A>TSubstitution - Nonsense
LAPTM5ENSG00000162511ENST00000294507p.T138Mc.413C>TSubstitution - Missense
LRRC23ENSG00000010626ENST00000007969p.E185*c.553G>TSubstitution - Nonsense
LRRC23ENSG00000010626ENST00000323702p.E185*c.553G>TSubstitution - Nonsense
LRRC23ENSG00000010626ENST00000323702p.E185Vc.554A>TSubstitution - Missense
GPR162ENSG00000250510ENST00000311268p.S542Sc.1626C>TSubstitution - coding silent
E2F8ENSG00000129173ENST00000250024p.A414Ac.1242G>ASubstitution - coding silent
GUCY1A2ENSG00000152402ENST00000526355p.V622Lc.1864G>CSubstitution - Missense
APOA4ENSG00000110244ENST00000357780p.Q387_V388insQQEQc.1145_1146ins12Insertion - In frame
NPIPA8ENSG00000214940ENST00000339303p.C427Cc.1281T>CSubstitution - coding silent
CCDC34ENSG00000109881ENST00000317945p.R141Hc.422G>ASubstitution - Missense
DNAH3ENSG00000158486ENST00000261383p.Q2338*c.7012C>TSubstitution - Nonsense
DNAH3ENSG00000158486ENST00000261383p.Q2338*c.7012C>TSubstitution - Nonsense
ACSM2AENSG00000183747ENST00000396104p.W35Rc.103T>CSubstitution - Missense
UBE2IENSG00000103275ENST00000355803p.A150Tc.448G>ASubstitution - Missense
TPSG1ENSG00000116176ENST00000234798p.A286Vc.857C>TSubstitution - Missense
SPTLC2ENSG00000100596ENST00000216484p.D344Dc.1032T>CSubstitution - coding silent
DNHD1ENSG00000179532ENST00000354685p.R449Wc.1345C>TSubstitution - Missense
SLC22A24ENSG00000197658ENST00000417740p.N28Sc.83A>GSubstitution - Missense
SLC22A24ENSG00000197658ENST00000326192p.N28Sc.83A>GSubstitution - Missense
C1orf51ENSG00000159208ENST00000369095p.L240Vc.718C>GSubstitution - Missense
MTHFRENSG00000177000ENST00000376592p.P385Pc.1155T>CSubstitution - coding silent
PRB3ENSG00000197870ENST00000381842p.R60Pc.179G>CSubstitution - Missense
SLC5A9ENSG00000117834ENST00000236495p.P369Tc.1105C>ASubstitution - Missense
MAST2ENSG00000086015ENST00000361297p.S404*c.1211C>GSubstitution - Nonsense
SLC12A1ENSG00000074803ENST00000380993p.A960Sc.2878G>TSubstitution - Missense
PGLYRP4ENSG00000163218ENST00000359650p.K372Qc.1114A>CSubstitution - Missense
ENST00000344371p.A117Tc.349G>ASubstitution - Missense
ENST00000389961_v65p.G1014Vc.3041G>TSubstitution - Missense
FAT3ENSG00000165323ENST00000409404p.G585Gc.1755A>CSubstitution - coding silent
CACNA1SENSG00000081248ENST00000362061p.T520Tc.1560A>CSubstitution - coding silent
RPS6KA1ENSG00000117676ENST00000374168p.Q397Lc.1190A>TSubstitution - Missense
OR2T3ENSG00000196539ENST00000359594p.K318Kc.954G>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