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MEL-HO - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

624 mutations reported
243 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
BRAFENSG00000157764ENST00000288602p.V600Ec.1799T>ASubstitution - Missense
COL1A2ENSG00000164692ENST00000297268p.R1338Hc.4013G>ASubstitution - Missense
ZBTB14ENSG00000198081ENST00000357006p.A260Tc.778G>ASubstitution - Missense
DNAH7ENSG00000118997ENST00000312428p.R1884*c.5650C>TSubstitution - Nonsense
CD209ENSG00000090659ENST00000315599p.R129Qc.386G>ASubstitution - Missense
CD209ENSG00000090659ENST00000315599p.R129Qc.386G>ASubstitution - Missense
DIAPH1ENSG00000131504ENST00000398557p.R1142Qc.3425G>ASubstitution - Missense
ENST00000429306p.R259Kc.776G>ASubstitution - Missense
PKD1L1ENSG00000158683ENST00000289672p.D1581Nc.4741G>ASubstitution - Missense
PYHIN1ENSG00000163564ENST00000392254p.F263Fc.789C>TSubstitution - coding silent
SMYD2ENSG00000143499ENST00000366957p.E98Gc.293A>GSubstitution - Missense
STAT2ENSG00000170581ENST00000314128p.P452Sc.1354C>TSubstitution - Missense
CMKLR1ENSG00000174600ENST00000312143p.M365Ic.1095G>ASubstitution - Missense
NAA25ENSG00000111300ENST00000261745p.Q264*c.790C>TSubstitution - Nonsense
ENAHENSG00000154380ENST00000366844p.?c.1602-1G>TUnknown
PSEN2ENSG00000143801ENST00000366783p.?c.141+2_141+11deltaggtcccacUnknown
PTENENSG00000171862ENST00000371953p.A151Pc.451G>CSubstitution - Missense
PDE6CENSG00000095464ENST00000371447p.F370Fc.1110C>TSubstitution - coding silent
OR8A1ENSG00000196119ENST00000284287p.P184Lc.551C>TSubstitution - Missense
PRDM11ENSG00000019485ENST00000263765p.P136Pc.408C>TSubstitution - coding silent
RHBGENSG00000132677ENST00000368246p.?c.1234+2T>GUnknown
RHBGENSG00000132677ENST00000400992p.?c.1138+2T>GUnknown
AICDAENSG00000111732ENST00000229335p.L62Lc.186C>TSubstitution - coding silent
DISC1ENSG00000162946ENST00000366636p.G531Sc.1591G>ASubstitution - Missense
ENST00000366638p.G563Sc.1687G>ASubstitution - Missense
ZNF268ENSG00000090612ENST00000228289p.G255Gc.765A>GSubstitution - coding silent
GOLGA3ENSG00000090615ENST00000204726p.D139Ec.417T>GSubstitution - Missense
GOLGA3ENSG00000090615ENST00000456883p.D139Ec.417T>GSubstitution - Missense
AGBL1ENSG00000166748ENST00000421325p.D251Nc.751G>ASubstitution - Missense
PPFIBP2ENSG00000166387ENST00000299492p.H688Hc.2064C>TSubstitution - coding silent
SERPINH1ENSG00000149257ENST00000533603p.R228Rc.684G>CSubstitution - coding silent
AHNAK2ENSG00000185567ENST00000333244p.R2794Qc.8381G>ASubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.P2770Pc.8310C>TSubstitution - coding silent
EDDM3AENSG00000181562ENST00000326842p.S3Tc.7T>ASubstitution - Missense
OR4K14ENSG00000169484ENST00000305045p.S177Gc.529A>GSubstitution - Missense
RIPK3ENSG00000129465ENST00000216274p.E428Dc.1284G>CSubstitution - Missense
SLC10A2ENSG00000125255ENST00000245312p.F300Yc.899T>ASubstitution - Missense
FMN2ENSG00000155816ENST00000319653p.P1024Pc.3072C>TSubstitution - coding silent
TACC2ENSG00000138162ENST00000369005p.K2771Rc.8312A>GSubstitution - Missense
MAML2ENSG00000184384ENST00000524717p.S27Lc.80C>TSubstitution - Missense
ANO4ENSG00000151572ENST00000392979p.P696Lc.2087C>TSubstitution - Missense
TDGENSG00000139372ENST00000392872p.?c.1084_1091-1>AGGGTAAUnknown
GLT8D2ENSG00000120820ENST00000360814p.A178Vc.533C>TSubstitution - Missense
MTUS2ENSG00000132938ENST00000431530p.E125Kc.373G>ASubstitution - Missense
FMO6PENSG00000117507ENST00000236166p.P273Pc.819T>CSubstitution - coding silent
APBA2ENSG00000034053ENST00000561069p.P209Sc.625C>TSubstitution - Missense
KRTAP5-2ENSG00000205867ENST00000412090p.S26Sc.78T>CSubstitution - coding silent
SOX6ENSG00000110693ENST00000316399p.R202Qc.605G>ASubstitution - Missense
PAPPA2ENSG00000116183ENST00000367662p.G1015Ec.3044G>ASubstitution - Missense
MRGPRX1ENSG00000170255ENST00000302797p.F237Fc.711C>TSubstitution - coding silent
LDHAL6AENSG00000166800ENST00000280706p.G191Ec.572G>ASubstitution - Missense
TEDDM1ENSG00000203730ENST00000367565p.Y250fs*1c.750delCDeletion - Frameshift
CACNA1EENSG00000198216ENST00000367570p.K1837Kc.5511G>ASubstitution - coding silent
ATN1ENSG00000111676ENST00000396684p.Q1157Qc.3471G>ASubstitution - coding silent
TRHDEENSG00000072657ENST00000261180p.S365Sc.1095C>TSubstitution - coding silent
MUC6ENSG00000184956ENST00000421673p.N2302Ic.6905A>TSubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.N2302Ic.6905A>TSubstitution - Missense
CCDC73ENSG00000186714ENST00000335185p.N298Dc.892A>GSubstitution - Missense
QSER1ENSG00000060749ENST00000399302p.S321Lc.962C>TSubstitution - Missense
RRN3ENSG00000085721ENST00000198767p.L322Fc.966G>CSubstitution - Missense
CACNB2ENSG00000165995ENST00000377329p.?c.172-10C>TUnknown
CACNB2ENSG00000165995ENST00000396576p.?c.169-10C>TUnknown
EXD2ENSG00000081177ENST00000409014p.I165Ic.495C>TSubstitution - coding silent
LTBP2ENSG00000119681ENST00000261978p.I786Vc.2356A>GSubstitution - Missense
IDH2ENSG00000182054ENST00000330062p.S408Rc.1224T>GSubstitution - Missense
MACF1ENSG00000127603ENST00000361689p.A440Ac.1320T>CSubstitution - coding silent
SZT2ENSG00000198198ENST00000372442p.V68Gc.203T>GSubstitution - Missense
SZT2ENSG00000198198ENST00000372442p.V68Gc.203T>GSubstitution - Missense
SZT2ENSG00000198198ENST00000562955p.V910Gc.2729T>GSubstitution - Missense
SRRM4ENSG00000139767ENST00000267260p.G58Ec.173G>ASubstitution - Missense
SU_KSR2p.E356Kc.1066G>ASubstitution - Missense
XM_052561.7p.?c.3880+10G>TUnknown
KIAA2013ENSG00000116685ENST00000376572p.L193Lc.577C>TSubstitution - coding silent
KIAA2013ENSG00000116685ENST00000376576p.L193Lc.577C>TSubstitution - coding silent
PLA2G4DENSG00000159337ENST00000290472p.S572Sc.1716G>ASubstitution - coding silent
DUOX1ENSG00000137857ENST00000389037p.F768Sc.2303T>CSubstitution - Missense
BAZ1AENSG00000198604ENST00000382422p.T1184Ac.3550A>GSubstitution - Missense
FANCMENSG00000187790ENST00000267430p.H1825Rc.5474A>GSubstitution - Missense
LRRK1ENSG00000154237ENST00000284395p.H1001Hc.3003C>TSubstitution - coding silent
OPTCENSG00000188770ENST00000367222p.N64Ic.191A>TSubstitution - Missense
MFSD4ENSG00000174514ENST00000367147p.?c.1369-4G>AUnknown
TMCC2ENSG00000133069ENST00000330675p.A427Ac.1281G>ASubstitution - coding silent
UNC13CENSG00000137766ENST00000260323p.S1062Sc.3186C>TSubstitution - coding silent
UNC13CENSG00000137766ENST00000260323p.P795Sc.2383C>TSubstitution - Missense
GCOM1ENSG00000137878ENST00000380569p.S443Lc.1328C>TSubstitution - Missense
POLR2MENSG00000255529ENST00000380563p.S261Lc.782C>TSubstitution - Missense
ENST00000436041_v68p.D37Vc.110A>TSubstitution - Missense
OR2C3ENSG00000196242ENST00000366487p.V31Ac.92T>CSubstitution - Missense
DNAJC6ENSG00000116675ENST00000395325p.G62Rc.184G>ASubstitution - Missense
C1orf173ENSG00000178965ENST00000326665p.P1155Sc.3463C>TSubstitution - Missense
BCAR3ENSG00000137936ENST00000260502p.H48Rc.143A>GSubstitution - Missense
DIO3ENSG00000197406ENST00000359323p.L126Lc.378C>TSubstitution - coding silent
ING1ENSG00000153487ENST00000375774p.V249Gc.746T>GSubstitution - Missense
ING1ENSG00000153487ENST00000333219p.V106Gc.317T>GSubstitution - Missense
ING1ENSG00000153487ENST00000338450p.V62Gc.185T>GSubstitution - Missense
ZFYVE19ENSG00000166140ENST00000355341p.L170Pc.509T>CSubstitution - Missense
ZFYVE19ENSG00000166140ENST00000336455p.L160Pc.479T>CSubstitution - Missense
BUB1BENSG00000156970ENST00000287598p.E391delEc.1168_1170delGAGDeletion - In frame
LTKENSG00000062524ENST00000263800p.V659Vc.1977G>ASubstitution - coding silent
C5orf42ENSG00000197603ENST00000274258p.I2024Ic.6072C>TSubstitution - coding silent
VMO1ENSG00000182853ENST00000328739p.Q181Rc.542A>GSubstitution - Missense
CD93ENSG00000125810ENST00000246006p.K101Tc.302A>CSubstitution - Missense
PMS1ENSG00000064933ENST00000441310p.S467Lc.1400C>TSubstitution - Missense
COL3A1ENSG00000168542ENST00000304636p.P700Lc.2099C>TSubstitution - Missense
ENST00000331986p.R6076Kc.18227G>ASubstitution - Missense
DNAH9ENSG00000007174ENST00000262442p.R1979Rc.5937C>TSubstitution - coding silent
EIF4A1ENSG00000161960ENST00000293831p.D164Vc.491A>TSubstitution - Missense
ZNF208ENSG00000160321ENST00000397126p.H835Qc.2505T>ASubstitution - Missense
ENST00000428290_v65p.H835Qc.2505T>ASubstitution - Missense
KLK13ENSG00000167759ENST00000156476p.V159Lc.475G>TSubstitution - Missense
KLK2ENSG00000167751ENST00000358049p.G221Gc.663G>ASubstitution - coding silent
SHANK1ENSG00000161681ENST00000391813p.G1232Sc.3694G>ASubstitution - Missense
SLA2ENSG00000101082ENST00000262866p.R212Rc.636G>ASubstitution - coding silent
CEP250ENSG00000126001ENST00000397527p.?c.2094+1G>AUnknown
ZNFX1ENSG00000124201ENST00000371752p.I825Ic.2475C>TSubstitution - coding silent
ZNFX1ENSG00000124201ENST00000455070p.I629Ic.1887C>TSubstitution - coding silent
TRMT6ENSG00000089195ENST00000203001p.S475Nc.1424G>ASubstitution - Missense
SCINENSG00000006747ENST00000297029p.L573Lc.1719A>GSubstitution - coding silent
PLXNA4ENSG00000221866ENST00000321063p.I1121Ic.3363C>TSubstitution - coding silent
NFX1ENSG00000086102ENST00000379540p.R487Cc.1459C>TSubstitution - Missense
CACNA2D3ENSG00000157445ENST00000474759p.A113Tc.337G>ASubstitution - Missense
LMOD3ENSG00000163380ENST00000420581p.T533Tc.1599T>CSubstitution - coding silent
FZD3ENSG00000104290ENST00000537916p.R628Gc.1882C>GSubstitution - Missense
PNOCENSG00000168081ENST00000301908p.L143Lc.427T>CSubstitution - coding silent
TANC2ENSG00000170921ENST00000389520p.V228Vc.684A>GSubstitution - coding silent
ENST00000389520_v65p.V228Vc.684A>GSubstitution - coding silent
RNF213ENSG00000173821ENST00000319921p.C701Sc.2101T>ASubstitution - Missense
ENST00000411702p.C750Sc.2248T>ASubstitution - Missense
GAAENSG00000171298ENST00000390015p.R89Hc.266G>ASubstitution - Missense
LAMA3ENSG00000053747ENST00000313654p.R786Cc.2356C>TSubstitution - Missense
ECSITENSG00000130159ENST00000270517p.A307Pc.919G>CSubstitution - Missense
SBNO2ENSG00000064932ENST00000361757p.T120Mc.359C>TSubstitution - Missense
ENST00000250872p.T77Mc.230C>TSubstitution - Missense
MAST1ENSG00000105613ENST00000251472p.?c.3452-8T>AUnknown
MAST1ENSG00000105613ENST00000251472p.?c.3452-8T>AUnknown
UBASH3AENSG00000160185ENST00000319294p.T591Ic.1772C>TSubstitution - Missense
DSCAMENSG00000171587ENST00000400454p.D1302Nc.3904G>ASubstitution - Missense
KRTAP10-6ENSG00000188155ENST00000400368p.S305Cc.914C>GSubstitution - Missense
GBE1ENSG00000114480ENST00000429644p.L597Lc.1791T>CSubstitution - coding silent
ENAMENSG00000132464ENST00000396073p.G519Gc.1557G>ASubstitution - coding silent
CCDC158ENSG00000163749ENST00000388914p.K56Ic.167A>TSubstitution - Missense
HTTENSG00000197386ENST00000355072p.P2095Lc.6284C>TSubstitution - Missense
HTTENSG00000197386ENST00000355072p.E3105Ec.9315G>ASubstitution - coding silent
CNGA1ENSG00000198515ENST00000358519p.I392Ic.1176C>TSubstitution - coding silent
KIAA1549ENSG00000122778ENST00000422774p.P1724Sc.5170C>TSubstitution - Missense
AGKENSG00000006530ENST00000492693p.R54Cc.160C>TSubstitution - Missense
AKAP9ENSG00000127914ENST00000356239p.G3566Gc.10698C>TSubstitution - coding silent
NM_147171.1p.G3570Gc.10710C>TSubstitution - coding silent
TRRAPENSG00000196367ENST00000355540p.D1635Dc.4905T>CSubstitution - coding silent
DGAT1ENSG00000185000ENST00000332324p.?c.751+8C>GUnknown
LOXHD1ENSG00000167210ENST00000398722p.P996Sc.2986C>TSubstitution - Missense
RALYLENSG00000184672ENST00000522455p.I242Ic.726C>TSubstitution - coding silent
VSX1ENSG00000100987ENST00000376707p.R194*c.580C>TSubstitution - Nonsense
FRG1BENSG00000149531ENST00000278882p.M11Tc.32T>CSubstitution - Missense
ENST00000278882_v61p.M11Tc.32T>CSubstitution - Missense
DGCR14ENSG00000100056ENST00000252137p.A179Tc.535G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.W6212Rc.18634T>ASubstitution - Missense
NM_003319p.W6087Rc.18259T>ASubstitution - Missense
MORC1ENSG00000114487ENST00000232603p.Q162Qc.486G>ASubstitution - coding silent
ITGAXENSG00000140678ENST00000268296p.T1093Kc.3278C>ASubstitution - Missense
FPR2ENSG00000171049ENST00000340023p.G88Gc.264A>CSubstitution - coding silent
ZNF534ENSG00000198633ENST00000332323p.E132Kc.394G>ASubstitution - Missense
MYT1ENSG00000196132ENST00000328439p.A567Vc.1700C>TSubstitution - Missense
EWSR1ENSG00000182944ENST00000414183p.R491Hc.1472G>ASubstitution - Missense
EWSR1ENSG00000182944ENST00000397938p.R486Hc.1457G>ASubstitution - Missense
CRIM1ENSG00000150938ENST00000280527p.V434Ic.1300G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.P3634Lc.10901C>TSubstitution - Missense
SEC31AENSG00000138674ENST00000395310p.P714Sc.2140C>TSubstitution - Missense
SEC31AENSG00000138674ENST00000432794p.P714Sc.2140C>TSubstitution - Missense
CXorf38ENSG00000185753ENST00000327877p.V150Ac.449T>CSubstitution - Missense
ZSCAN4ENSG00000180532ENST00000318203p.G38Gc.114G>TSubstitution - coding silent
REV1ENSG00000135945ENST00000258428p.R837Sc.2509C>ASubstitution - Missense
TRIM71ENSG00000206557ENST00000383763p.R225Qc.674G>ASubstitution - Missense
MYRIPENSG00000170011ENST00000302541p.K359Kc.1077G>ASubstitution - coding silent
SCN5AENSG00000183873ENST00000333535p.S1096Gc.3286A>GSubstitution - Missense
GRID2ENSG00000152208ENST00000282020p.?c.1859-10C>TUnknown
CCDC135ENSG00000159625ENST00000360716p.C828Cc.2484C>TSubstitution - coding silent
DYSFENSG00000135636ENST00000258104p.P1739Sc.5215C>TSubstitution - Missense
FAM194AENSG00000163645ENST00000295910p.V614Vc.1842G>ASubstitution - coding silent
NDST4ENSG00000138653ENST00000264363p.P828Sc.2482C>TSubstitution - Missense
IL2ENSG00000109471ENST00000226730p.P54Sc.160C>TSubstitution - Missense
TRPC3ENSG00000138741ENST00000379645p.L513Lc.1537C>TSubstitution - coding silent
TBC1D9BENSG00000197226ENST00000356834p.P532Pc.1596C>TSubstitution - coding silent
CDH18ENSG00000145526ENST00000507958p.L16Lc.48C>TSubstitution - coding silent
RMND1ENSG00000155906ENST00000367303p.?c.1200+4C>TUnknown
DNAH11ENSG00000105877ENST00000328843p.S130Fc.389C>TSubstitution - Missense
IQCEENSG00000106012ENST00000402050p.P589Lc.1766C>TSubstitution - Missense
STK31ENSG00000196335ENST00000355870p.F795Lc.2383T>CSubstitution - Missense
DMDENSG00000198947ENST00000378677p.?c.5313+5G>AUnknown
DMDENSG00000198947ENST00000378677p.?c.5313+5G>AUnknown
ENST00000378682p.?c.1302+5G>AUnknown
PNKDENSG00000127838ENST00000273077p.R67_K69delRGKc.196_204delAAGAGGGGCDeletion - In frame
FARSBENSG00000116120ENST00000281828p.L219Pc.656T>CSubstitution - Missense
HJURPENSG00000123485ENST00000411486p.H442Yc.1324C>TSubstitution - Missense
MAP1BENSG00000131711ENST00000296755p.K751Kc.2253A>GSubstitution - coding silent
DNAH8ENSG00000124721ENST00000359357p.E3671Kc.11011G>ASubstitution - Missense
NM_001371.1p.E3671Kc.11011G>ASubstitution - Missense
MUC12ENSG00000205277ENST00000536621p.A551Ac.1653T>GSubstitution - coding silent
ENST00000419043p.P581Lc.1742C>TSubstitution - Missense
PSIP1ENSG00000164985ENST00000380715p.S94Tc.281G>CSubstitution - Missense
PFKFB1ENSG00000158571ENST00000375006p.A315Ac.945C>TSubstitution - coding silent
FOXR2ENSG00000189299ENST00000339140p.R192Rc.576G>ASubstitution - coding silent
SH3BGRLENSG00000131171ENST00000373212p.E51Kc.151G>ASubstitution - Missense
NM_012116.2p.Y261Fc.782A>TSubstitution - Missense
PRSS33ENSG00000103355ENST00000293851p.R23Rc.69G>ASubstitution - coding silent
SNX25ENSG00000109762ENST00000504273p.S655Sc.1965C>TSubstitution - coding silent
SEL1L3ENSG00000091490ENST00000399878p.?c.1497+1G>AUnknown
NETO1ENSG00000166342ENST00000327305p.F137fs*4c.408_409insAInsertion - Frameshift
NETO1ENSG00000166342ENST00000397929p.F136fs*4c.405_406insAInsertion - Frameshift
SERPINB2ENSG00000197632ENST00000299502p.G384Ec.1151G>ASubstitution - Missense
ZNF236ENSG00000130856ENST00000253159p.G1003Sc.3007G>ASubstitution - Missense
ZNF236ENSG00000130856ENST00000543926p.G1003Sc.3007G>ASubstitution - Missense
ICAM3ENSG00000076662ENST00000160262p.T3Nc.8C>ASubstitution - Missense
SYCP2LENSG00000153157ENST00000283141p.D37Ac.110A>CSubstitution - Missense
ROS1ENSG00000047936ENST00000368507p.P191Lc.572C>TSubstitution - Missense
RSPH4AENSG00000111834ENST00000229554p.N479Sc.1436A>GSubstitution - Missense
DSTENSG00000151914ENST00000370765p.F2089Fc.6267C>TSubstitution - coding silent
RREB1ENSG00000124782ENST00000379938p.K1566Tc.4697A>CSubstitution - Missense
SMAP1ENSG00000112305ENST00000370452p.L424Lc.1272A>GSubstitution - coding silent
BAI3ENSG00000135298ENST00000370598p.E1273Kc.3817G>ASubstitution - Missense
MAN1A1ENSG00000111885ENST00000368468p.P639Rc.1916C>GSubstitution - Missense
SVEP1ENSG00000165124ENST00000401783p.N1242Sc.3725A>GSubstitution - Missense
ENPP3ENSG00000154269ENST00000357639p.?c.2300+7G>TUnknown
SAMD3ENSG00000164483ENST00000368134p.D395Dc.1185C>TSubstitution - coding silent
SGK1ENSG00000118515ENST00000528577p.?c.747-107_1213-32del1957Unknown
SGK1ENSG00000118515ENST00000237305p.?c.663-107_1129-32del1957Unknown
CNTNAP1ENSG00000108797ENST00000264638p.A622Vc.1865C>TSubstitution - Missense
ZBBXENSG00000169064ENST00000392766p.V97Lc.289G>TSubstitution - Missense
FNDC3BENSG00000075420ENST00000336824p.S1048Sc.3144C>TSubstitution - coding silent
MECOMENSG00000085276ENST00000392736p.K242Tc.725A>CSubstitution - Missense
MECOMENSG00000085276ENST00000392736p.G241Dc.722G>ASubstitution - Missense
MED27ENSG00000160563ENST00000292035p.L157Lc.469C>TSubstitution - coding silent
PPARGC1BENSG00000155846ENST00000309241p.L642Vc.1924C>GSubstitution - Missense
ROR2ENSG00000169071ENST00000375708p.S882Sc.2646C>TSubstitution - coding silent
AQP1ENSG00000240583ENST00000311813p.D259Nc.775G>ASubstitution - Missense
AOAHENSG00000136250ENST00000258749p.N532Sc.1595A>GSubstitution - Missense
ENST00000322220p.G78Gc.234G>ASubstitution - coding silent
AEBP1ENSG00000106624ENST00000223357p.S392Lc.1175C>TSubstitution - Missense
MAMLD1ENSG00000013619ENST00000432680p.M263Lc.787A>CSubstitution - Missense
MAMLD1ENSG00000013619ENST00000370401p.M288Lc.862A>CSubstitution - Missense
PCDHB2ENSG00000112852ENST00000194155p.E57Ec.171G>ASubstitution - coding silent
ZNF775ENSG00000196456ENST00000329630p.S294Lc.881C>TSubstitution - Missense
ENST00000309900p.I637Vc.1909A>GSubstitution - Missense
MLST8ENSG00000167965ENST00000564088p.?c.862+3G>AUnknown
NM_022372.2p.E289Kc.865G>ASubstitution - Missense
SYDE1ENSG00000105137ENST00000342784p.?c.1291-5C>TUnknown
SYDE1ENSG00000105137ENST00000342784p.?c.1291-4C>TUnknown
PHLDB3ENSG00000176531ENST00000292140p.G333Gc.999C>GSubstitution - coding silent
SCN3AENSG00000153253ENST00000409101p.R889Pc.2666G>CSubstitution - Missense
MYO3BENSG00000071909ENST00000408978p.V679Ic.2035G>ASubstitution - Missense
TNCENSG00000041982ENST00000350763p.G36Rc.106G>CSubstitution - Missense
VWA5B2ENSG00000145198ENST00000426955p.A499Vc.1496C>TSubstitution - Missense
MAP3K13ENSG00000073803ENST00000424227p.K804Ec.2410A>GSubstitution - Missense
BNIP1ENSG00000113734ENST00000231668p.?c.306+3G>AUnknown
LRRC27ENSG00000148814ENST00000368610p.P263Pc.789G>ASubstitution - coding silent
NPR2ENSG00000159899ENST00000342694p.Q1016Hc.3048G>TSubstitution - Missense
OR5D14ENSG00000186113ENST00000335605p.R295Kc.884G>ASubstitution - Missense
CACNB2ENSG00000165995ENST00000377315p.?c.190-10C>TUnknown
CACNB2ENSG00000165995ENST00000377319p.?c.169-10C>TUnknown
HBG2ENSG00000196565ENST00000380259p.D81Nc.241G>ASubstitution - Missense
TNKS1BP1ENSG00000149115ENST00000358252p.L1647Lc.4941C>TSubstitution - coding silent
EP400ENSG00000183495ENST00000333577p.F1404Lc.4212C>ASubstitution - Missense
COL11A1ENSG00000060718ENST00000358392p.V683Vc.2049A>GSubstitution - coding silent
MACF1ENSG00000127603ENST00000317713p.A440Ac.1320T>CSubstitution - coding silent
DNAJC6ENSG00000116675ENST00000371069p.G119Rc.355G>ASubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.T4127Tc.12381T>ASubstitution - coding silent
UNC13CENSG00000137766ENST00000545554p.S1062Sc.3186C>TSubstitution - coding silent
MAP2K7ENSG00000076984ENST00000545011p.P383Pc.1149G>ASubstitution - coding silent
FRG1BENSG00000149531ENST00000439954p.N12Nc.36T>CSubstitution - coding silent
ITSN1ENSG00000205726ENST00000381285p.E1271Kc.3811G>ASubstitution - Missense
ARHGAP25ENSG00000163219ENST00000497079p.K48Ec.142A>GSubstitution - Missense
MAP3K13ENSG00000073803ENST00000535426p.K660Ec.1978A>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.N1637Dc.4909A>GSubstitution - Missense
ENST00000405167p.N1637Dc.4909A>GSubstitution - Missense
GABRA2ENSG00000151834ENST00000540012p.T234Ic.701C>TSubstitution - Missense
CACNA1EENSG00000198216ENST00000357570p.K1788Kc.5364G>ASubstitution - coding silent
SETENSG00000119335ENST00000372688p.?c.776_778-3del598Unknown
PPARGC1BENSG00000155846ENST00000394320p.L642Vc.1924C>GSubstitution - Missense
TIAM2ENSG00000146426ENST00000456144p.E1600*c.4798G>TSubstitution - Nonsense
TMEM176AENSG00000002933ENST00000004103p.Y213Yc.639C>TSubstitution - coding silent
ENST00000328843_v70p.?c.7935+4G>TUnknown
ENST00000328843_v70p.Q3434Lc.10301A>TSubstitution - Missense
LIMK1ENSG00000106683ENST00000538333p.P547Lc.1640C>TSubstitution - Missense
SAMD12ENSG00000177570ENST00000409003p.Q139*c.415C>TSubstitution - Nonsense
PCSK5ENSG00000099139ENST00000424854p.E600Kc.1798G>ASubstitution - Missense
SRPXENSG00000101955ENST00000343800p.F275Lc.823T>CSubstitution - Missense
MAP3K15ENSG00000180815ENST00000338883p.G1094Rc.3280G>ASubstitution - Missense
SYTL4ENSG00000102362ENST00000372981p.S289Fc.866C>TSubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.E4670*c.14008G>TSubstitution - Nonsense
FMO6PENSG00000117507ENST00000236166p.E287Kc.859G>ASubstitution - Missense
MARK2ENSG00000072518ENST00000509502p.R411Qc.1232G>ASubstitution - Missense
ARMC4ENSG00000169126ENST00000305242p.D492Yc.1474G>TSubstitution - Missense
CAPS2ENSG00000180881ENST00000409445p.?c.188+10G>AUnknown
TMC7ENSG00000170537ENST00000304381p.L519Ic.1555C>ASubstitution - Missense
CCNL2ENSG00000221978ENST00000408918p.V144Ic.430G>ASubstitution - Missense
EP400ENSG00000183495ENST00000389561p.F1368Lc.4104C>ASubstitution - Missense
OTUB2ENSG00000089723ENST00000203664p.R20Wc.58C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.R10443Kc.31328G>ASubstitution - Missense
ZNF208ENSG00000160321ENST00000397126p.H935Qc.2805T>ASubstitution - Missense
SCINENSG00000006747ENST00000297029p.L573Lc.1719A>GSubstitution - coding silent
SSTR3ENSG00000183473ENST00000328544p.I125Ic.375C>TSubstitution - coding silent
TLE1ENSG00000196781ENST00000376499p.L559Lc.1677G>ASubstitution - coding silent
MECOMENSG00000085276ENST00000264674p.K307Tc.920A>CSubstitution - Missense
ATCAYENSG00000167654ENST00000450849p.E340Kc.1018G>ASubstitution - Missense
ZNF285ENSG00000267508ENST00000330997p.R582Kc.1745G>ASubstitution - Missense
SCN3AENSG00000153253ENST00000283254p.R938Pc.2813G>CSubstitution - Missense
MLST8ENSG00000167965ENST00000301724p.E289Kc.865G>ASubstitution - Missense
SETENSG00000119335ENST00000322030p.?c.809_811-3del598Unknown
OR51V1ENSG00000176742ENST00000321255p.P263Sc.787C>TSubstitution - Missense
GRM7ENSG00000196277ENST00000357716p.I241Ic.723T>CSubstitution - coding silent
DUOX1ENSG00000137857ENST00000561166p.F414Sc.1241T>CSubstitution - Missense
IGHMBP2ENSG00000132740ENST00000255078p.E641fs*1c.1920_1921insTInsertion - Frameshift
MARK2ENSG00000072518ENST00000402010p.R445Qc.1334G>ASubstitution - Missense
TNRENSG00000116147ENST00000367674p.R899Pc.2696G>CSubstitution - Missense
CCNL2ENSG00000221978ENST00000400809p.V144Ic.430G>ASubstitution - Missense
C5orf42ENSG00000197603ENST00000425232p.I3126Ic.9378C>TSubstitution - coding silent
ACPTENSG00000142513ENST00000270593p.R203Hc.608G>ASubstitution - Missense
DSCAMENSG00000171587ENST00000400454p.T1765Nc.5294C>ASubstitution - Missense
MYO18BENSG00000133454ENST00000335473p.L1693Lc.5077T>CSubstitution - coding silent
SU_SK681p.G1141Rc.3421G>ASubstitution - Missense
ACAD11ENSG00000240303ENST00000264990p.?c.2119-4A>CUnknown
PLIN3ENSG00000105355ENST00000221957p.E432Ec.1296G>ASubstitution - coding silent
SYTL4ENSG00000102362ENST00000372989p.S289Sc.867C>TSubstitution - coding silent
ROS1ENSG00000047936ENST00000368508p.P182Lc.545C>TSubstitution - Missense
TRPC7ENSG00000069018ENST00000513104p.F689Fc.2067C>TSubstitution - coding silent
GSTA2ENSG00000244067ENST00000493422p.L174Rc.521T>GSubstitution - Missense
MAP3K13ENSG00000073803ENST00000424227p.K804Ec.2410A>GSubstitution - Missense
KIAA1109ENSG00000138688ENST00000455637p.R969Qc.2906G>ASubstitution - Missense
ARMC4ENSG00000169126ENST00000545014p.D17Yc.49G>TSubstitution - Missense
UNC13CENSG00000137766ENST00000545554p.P795Sc.2383C>TSubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.A694Ac.2082T>GSubstitution - coding silent
SLITRK6ENSG00000184564ENST00000400286p.E39Kc.115G>ASubstitution - Missense
CSPG4ENSG00000173546ENST00000308508p.A674Ac.2022C>TSubstitution - coding silent
ENST00000398860p.?c.5836-8C>TUnknown
ARID5BENSG00000150347ENST00000279873p.L6Fc.16C>TSubstitution - Missense
WDHD1ENSG00000198554ENST00000360586p.G252Cc.754G>TSubstitution - Missense
CLPPENSG00000125656ENST00000245816p.A152Ac.456C>TSubstitution - coding silent
ACP5ENSG00000102575ENST00000218758p.?c.735+8C>AUnknown
TBC1D1ENSG00000065882ENST00000261439p.Y350Yc.1050C>TSubstitution - coding silent
TBPENSG00000112592ENST00000230354p.V264Vc.792G>ASubstitution - coding silent
ENST00000356127p.W12584Rc.37750T>ASubstitution - Missense
PPP1R13LENSG00000104881ENST00000360957p.W800*c.2400G>ASubstitution - Nonsense
FAM118AENSG00000100376ENST00000216214p.G72Rc.214G>ASubstitution - Missense
PSIP1ENSG00000164985ENST00000380733p.S94Tc.281G>CSubstitution - Missense
C6orf58ENSG00000184530ENST00000329722p.A234Ac.702G>ASubstitution - coding silent
CYP4V2ENSG00000145476ENST00000378802p.S482Sc.1446G>TSubstitution - coding silent
PCSK5ENSG00000099139ENST00000545128p.E927Kc.2779G>ASubstitution - Missense
ZMAT3ENSG00000172667ENST00000311417p.E51Gc.152A>GSubstitution - Missense
MAGEC1ENSG00000155495ENST00000285879p.P299Sc.895C>TSubstitution - Missense
TNNC2ENSG00000101470ENST00000372555p.M46Tc.137T>CSubstitution - Missense
VARSENSG00000204394ENST00000375663p.I825Ic.2475C>TSubstitution - coding silent
ST6GAL1ENSG00000073849ENST00000169298p.D339Nc.1015G>ASubstitution - Missense
SVEP1ENSG00000165124ENST00000302728p.N1242Sc.3725A>GSubstitution - Missense
PYHIN1ENSG00000163564ENST00000368140p.F263Fc.789C>TSubstitution - coding silent
DCDC1ENSG00000170959ENST00000339794p.Q645Qc.1935G>ASubstitution - coding silent
SOX6ENSG00000110693ENST00000527619p.R205Qc.614G>ASubstitution - Missense
XCL1ENSG00000143184ENST00000367818p.V77Mc.229G>ASubstitution - Missense
LMOD2ENSG00000170807ENST00000458573p.G87Gc.261G>ASubstitution - coding silent
PDE9AENSG00000160191ENST00000291539p.?c.1242+9G>AUnknown
COLEC11ENSG00000118004ENST00000418971p.R95Sc.283C>ASubstitution - Missense
SCN5AENSG00000183873ENST00000413689p.S1096Gc.3286A>GSubstitution - Missense
COPB2ENSG00000184432ENST00000333188p.?c.2553+6T>AUnknown
C17orf104ENSG00000180336ENST00000409122p.E330Kc.988G>ASubstitution - Missense
SGK1ENSG00000118515ENST00000367857p.?c.633-107_1099-32del1957Unknown
PKHD1L1ENSG00000205038ENST00000378402p.G183Gc.549G>ASubstitution - coding silent
NOM1ENSG00000146909ENST00000275820p.R650Kc.1949G>ASubstitution - Missense
TIAM2ENSG00000146426ENST00000367174p.E947*c.2839G>TSubstitution - Nonsense
MAP2K7ENSG00000076984ENST00000397979p.P341Pc.1023G>ASubstitution - coding silent
STYK1ENSG00000060140ENST00000075503p.M192Vc.574A>GSubstitution - Missense
CEP290ENSG00000198707ENST00000552810p.S1497*c.4490C>GSubstitution - Nonsense
PRAMEF12ENSG00000116726ENST00000357726p.T400Tc.1200C>TSubstitution - coding silent
TMCC2ENSG00000133069ENST00000358024p.A652Ac.1956G>ASubstitution - coding silent
TTC6ENSG00000139865ENST00000267368p.L511_E514delLDLEc.1530_1541del12Deletion - In frame
TTC6ENSG00000139865ENST00000553443p.L1877_E1880delLDLEc.5628_5639del12Deletion - In frame
ATP11AENSG00000068650ENST00000375630p.?c.441+2T>CUnknown
LMOD3ENSG00000163380ENST00000420581p.T533Tc.1599T>CSubstitution - coding silent
GABRA2ENSG00000151834ENST00000356504p.T289Ic.866C>TSubstitution - Missense
NCAM2ENSG00000154654ENST00000400546p.T43Tc.129A>GSubstitution - coding silent
KRBA2ENSG00000184619ENST00000331336p.I204Tc.611T>CSubstitution - Missense
TBC1D9BENSG00000197226ENST00000355235p.P532Pc.1596C>TSubstitution - coding silent
DNAH11ENSG00000105877ENST00000328843p.?c.7935+4G>TUnknown
ARHGAP25ENSG00000163219ENST00000409220p.K48Ec.142A>GSubstitution - Missense
NM_021998.2p.S278Sc.834T>CSubstitution - coding silent
SYTL4ENSG00000102362ENST00000372989p.S289Fc.866C>TSubstitution - Missense
GIMAP5ENSG00000196329ENST00000358647p.R76Rc.228G>ASubstitution - coding silent
OR14J1ENSG00000204695ENST00000377160p.G168Gc.504G>ASubstitution - coding silent
EGR1ENSG00000120738ENST00000239938p.S452Sc.1356C>TSubstitution - coding silent
MAMLD1ENSG00000013619ENST00000370401p.L183Lc.549C>TSubstitution - coding silent
TNRC6AENSG00000090905ENST00000395799p.T738Sc.2212A>TSubstitution - Missense
OR1L4ENSG00000136939ENST00000259466p.W140Rc.418T>CSubstitution - Missense
OR5T3ENSG00000172489ENST00000303059p.L256Mc.766C>ASubstitution - Missense
LRRC27ENSG00000148814ENST00000432555p.P198Pc.594G>ASubstitution - coding silent
GRM7ENSG00000196277ENST00000403881p.I241Ic.723T>CSubstitution - coding silent
BUB1BENSG00000156970ENST00000412359p.E405delEc.1210_1212delGAGDeletion - In frame
SYTL4ENSG00000102362ENST00000372981p.S289Sc.867C>TSubstitution - coding silent
ACSS3ENSG00000111058ENST00000548058p.K167Ec.499A>GSubstitution - Missense
EXD2ENSG00000081177ENST00000312994p.I290Ic.870C>TSubstitution - coding silent
DDI1ENSG00000170967ENST00000302259p.A121Ac.363T>GSubstitution - coding silent
DDI1ENSG00000170967ENST00000302259p.A121Ac.363T>GSubstitution - coding silent
PROX2ENSG00000119608ENST00000445876p.Q344*c.1030C>TSubstitution - Nonsense
SU_LRRK1p.H1016Hc.3048C>TSubstitution - coding silent
MEGF11ENSG00000157890ENST00000409699p.A851Vc.2552C>TSubstitution - Missense
ASXL3ENSG00000141431ENST00000269197p.G217Rc.649G>ASubstitution - Missense
DSCAMENSG00000171587ENST00000400454p.R1624Kc.4871G>ASubstitution - Missense
KLHL40ENSG00000157119ENST00000287777p.?c.1608-6C>TUnknown
ANK2ENSG00000145362ENST00000357077p.P1926Pc.5778G>TSubstitution - coding silent
SAP130ENSG00000136715ENST00000357702p.A782Tc.2344G>ASubstitution - Missense
GYG2ENSG00000056998ENST00000381163p.G168Rc.502G>CSubstitution - Missense
PEX5LENSG00000114757ENST00000263962p.?c.87+4G>AUnknown
TNRC6AENSG00000090905ENST00000395799p.M1577Vc.4729A>GSubstitution - Missense
ILDR1ENSG00000145103ENST00000462014p.P406Sc.1216C>TSubstitution - Missense
PCDHB8ENSG00000120322ENST00000239444p.R186Cc.556C>TSubstitution - Missense
ILDR1ENSG00000145103ENST00000344209p.P438Sc.1312C>TSubstitution - Missense
COL11A1ENSG00000060718ENST00000358392p.?c.2791-6T>CUnknown
DIS3ENSG00000083520ENST00000377767p.I380Ic.1140C>ASubstitution - coding silent
NOX4ENSG00000086991ENST00000263317p.N330Kc.990T>GSubstitution - Missense
EPB41L1ENSG00000088367ENST00000338074p.V377Gc.1130T>GSubstitution - Missense
JPH1ENSG00000104369ENST00000342232p.E375fs*39c.1122_1126delGGAAADeletion - Frameshift
DNAH7ENSG00000118997ENST00000312428p.H3293Nc.9877C>ASubstitution - Missense
HEATR2ENSG00000164818ENST00000297440p.L383Lc.1149C>TSubstitution - coding silent
ARHGAP25ENSG00000163219ENST00000544262p.K29Ec.85A>GSubstitution - Missense
XM_051221.5p.E372Kc.1114G>ASubstitution - Missense
DSTENSG00000151914ENST00000370765p.F2089Fc.6267C>TSubstitution - coding silent
ZNF711ENSG00000147180ENST00000373165p.S298Sc.894T>CSubstitution - coding silent
RREB1ENSG00000124782ENST00000379933p.K1511Tc.4532A>CSubstitution - Missense
SEL1L3ENSG00000091490ENST00000399878p.?c.1956+1G>AUnknown
ZBBXENSG00000169064ENST00000455345p.V97Lc.289G>TSubstitution - Missense
MECOMENSG00000085276ENST00000264674p.G306Dc.917G>ASubstitution - Missense
ENST00000316490_v65p.I3079Vc.9235A>GSubstitution - Missense
NM_005491.1p.L110Lc.330C>TSubstitution - coding silent
TLL1ENSG00000038295ENST00000061240p.R611Rc.1833A>GSubstitution - coding silent
C6orf25ENSG00000204420ENST00000375806p.G124Ac.371G>CSubstitution - Missense
C6orf25ENSG00000204420ENST00000375809p.G124Ac.371G>CSubstitution - Missense
LRP2ENSG00000081479ENST00000263816p.G1075Gc.3225C>TSubstitution - coding silent
ACADMENSG00000117054ENST00000420607p.T74Tc.222T>GSubstitution - coding silent
MRPS25ENSG00000131368ENST00000253686p.S94Sc.282C>TSubstitution - coding silent
AVILENSG00000135407ENST00000257861p.G299Rc.895G>ASubstitution - Missense
ILDR1ENSG00000145103ENST00000273691p.P394Sc.1180C>TSubstitution - Missense
LYSTENSG00000143669ENST00000389793p.T3639Tc.10917C>TSubstitution - coding silent
C12orf68ENSG00000177875ENST00000316554p.H46Hc.138C>TSubstitution - coding silent
LRRC27ENSG00000148814ENST00000368615p.P325Pc.975G>ASubstitution - coding silent
LRRC27ENSG00000148814ENST00000392638p.R357Hc.1070G>ASubstitution - Missense
ARNTENSG00000143437ENST00000358595p.N395Kc.1185T>ASubstitution - Missense
CACNA1EENSG00000198216ENST00000367573p.K1837Kc.5511G>ASubstitution - coding silent
CACNB2ENSG00000165995ENST00000352115p.?c.334-10C>TUnknown
LTKENSG00000062524ENST00000355166p.V598Vc.1794G>ASubstitution - coding silent
CSPP1ENSG00000104218ENST00000262210p.P493Sc.1477C>TSubstitution - Missense
DKKL1ENSG00000104901ENST00000221498p.S28Fc.83C>TSubstitution - Missense
MAP2K4ENSG00000065559ENST00000353533p.I384Sc.1151T>GSubstitution - Missense
ITSN1ENSG00000205726ENST00000381318p.E1271Kc.3811G>ASubstitution - Missense
PNKDENSG00000127838ENST00000248451p.R67_K69delRGKc.196_204delAAGAGGGGCDeletion - In frame
PPICENSG00000168938ENST00000306442p.F122Lc.366C>ASubstitution - Missense
LCN9ENSG00000148386ENST00000277526p.D168Nc.502G>ASubstitution - Missense
NCOA5ENSG00000124160ENST00000290231p.Q343*c.1027C>TSubstitution - Nonsense
PSEN2ENSG00000143801ENST00000391872p.?c.240+2_240+11deltaggtcccacUnknown
SLITRK6ENSG00000184564ENST00000400286p.G453Ec.1358G>ASubstitution - Missense
EIF2DENSG00000143486ENST00000271764p.T158Tc.474G>ASubstitution - coding silent
COL11A1ENSG00000060718ENST00000370096p.?c.2755-6T>CUnknown
AKAP13ENSG00000170776ENST00000361243p.Q1145Qc.3435G>ASubstitution - coding silent
ENST00000389046p.F144Vc.430T>GSubstitution - Missense
HKDC1ENSG00000156510ENST00000354624p.M412Rc.1235T>GSubstitution - Missense
SRRM4ENSG00000139767ENST00000267260p.G155Ec.464G>ASubstitution - Missense
PCNXENSG00000100731ENST00000304743p.P1239Lc.3716C>TSubstitution - Missense
UNC13CENSG00000137766ENST00000260323p.P795Sc.2383C>TSubstitution - Missense
POLR2MENSG00000255529ENST00000299638p.S261Lc.782C>TSubstitution - Missense
PLCXD3ENSG00000182836ENST00000377801p.Q54Ec.160C>GSubstitution - Missense
MIA2ENSG00000150526ENST00000280082p.E99*c.295G>TSubstitution - Nonsense
ACADMENSG00000117054ENST00000370841p.T70Tc.210T>GSubstitution - coding silent
PARK7ENSG00000116288ENST00000493678p.?c.410-3C>TUnknown
PLXNA4ENSG00000221866ENST00000321063p.I1121Ic.3363C>TSubstitution - coding silent
GNL3ENSG00000163938ENST00000418458p.E510Qc.1528G>CSubstitution - Missense
GBE1ENSG00000114480ENST00000429644p.L597Lc.1791T>CSubstitution - coding silent
SRPXENSG00000101955ENST00000378533p.F288Lc.862T>CSubstitution - Missense
DNAH11ENSG00000105877ENST00000328843p.Q3434Lc.10301A>TSubstitution - Missense
SGK1ENSG00000118515ENST00000367858p.?c.948-107_1414-32del1957Unknown
ENST00000316490p.I3031Vc.9091A>GSubstitution - Missense
C5orf54ENSG00000221886ENST00000408953p.Y11Cc.32A>GSubstitution - Missense
ZNF226ENSG00000167380ENST00000454662p.R607Gc.1819A>GSubstitution - Missense
CCDC94ENSG00000105248ENST00000262962p.A271Gc.812C>GSubstitution - Missense
ENST00000291449p.T522Mc.1565C>TSubstitution - Missense
CD79AENSG00000105369ENST00000221972p.T75Tc.225G>ASubstitution - coding silent
OR5T2ENSG00000181718ENST00000313264p.L50Ic.148T>ASubstitution - Missense
CACNA1EENSG00000198216ENST00000367567p.K1444Kc.4332G>ASubstitution - coding silent
MYT1ENSG00000196132ENST00000360149p.A269Vc.806C>TSubstitution - Missense
NFX1ENSG00000086102ENST00000318524p.R487Cc.1459C>TSubstitution - Missense
ENST00000328843_v70p.S130Fc.389C>TSubstitution - Missense
NM_183049.1p.F13Fc.39C>TSubstitution - coding silent
COL11A1ENSG00000060718ENST00000370096p.G93Ec.278G>ASubstitution - Missense
NLRP14ENSG00000158077ENST00000299481p.V430Vc.1290C>TSubstitution - coding silent
ENSG00000239810ENST00000436041p.D37Vc.110A>TSubstitution - Missense
LRRK1ENSG00000154237ENST00000388948p.H1004Hc.3012C>TSubstitution - coding silent
GRM7ENSG00000196277ENST00000389335p.I241Ic.723T>CSubstitution - coding silent
GUF1ENSG00000151806ENST00000281543p.D506Gc.1517A>GSubstitution - Missense
TTNENSG00000155657ENST00000342175p.W6279Rc.18835T>ASubstitution - Missense
VSX1ENSG00000100987ENST00000376709p.R194*c.580C>TSubstitution - Nonsense
CDH18ENSG00000145526ENST00000382275p.L16Lc.48C>TSubstitution - coding silent
WDPCPENSG00000143951ENST00000272321p.P296Lc.887C>TSubstitution - Missense
ZBED2ENSG00000177494ENST00000317012p.V91Vc.273C>TSubstitution - coding silent
ENST00000360022p.R333Qc.998G>ASubstitution - Missense
ATCAYENSG00000167654ENST00000301260p.E340Kc.1018G>ASubstitution - Missense
PTCHD2ENSG00000204624ENST00000389575p.?c.3229+10G>TUnknown
SU_OBSCN.1p.E5252*c.15754G>TSubstitution - Nonsense
ACBD3ENSG00000182827ENST00000366812p.A370_A371insIAc.1103_1104insAATAGCInsertion - In frame
RHBGENSG00000132677ENST00000368249p.?c.1234+2T>GUnknown
GOLGA3ENSG00000090615ENST00000545875p.D139Ec.417T>GSubstitution - Missense
DISC1ENSG00000162946ENST00000366633p.G531Sc.1591G>ASubstitution - Missense
CD244ENSG00000122223ENST00000368032p.R323Rc.969A>GSubstitution - coding silent
STARD9ENSG00000159433ENST00000290607p.G21Gc.63G>CSubstitution - coding silent
OR2W3ENSG00000238243ENST00000360358p.T291Tc.873C>TSubstitution - coding silent
UNC13CENSG00000137766ENST00000260323p.S1062Sc.3186C>TSubstitution - coding silent
VRK1ENSG00000100749ENST00000216639p.A237Ac.711C>TSubstitution - coding silent
ELTD1ENSG00000162618ENST00000370742p.F477Lc.1429T>CSubstitution - Missense
ELF4ENSG00000102034ENST00000335997p.T418Ic.1253C>TSubstitution - Missense
SHANK1ENSG00000161681ENST00000293441p.G1845Sc.5533G>ASubstitution - Missense
ZNFX1ENSG00000124201ENST00000396105p.I825Ic.2475C>TSubstitution - coding silent
ENST00000434864p.G39Rc.115G>CSubstitution - Missense
ENST00000242365_v65p.P1674Sc.5020C>TSubstitution - Missense
TRRAPENSG00000196367ENST00000359863p.D1653Dc.4959T>CSubstitution - coding silent
MYT1ENSG00000196132ENST00000536311p.A567Vc.1700C>TSubstitution - Missense
ZSCAN1ENSG00000152467ENST00000282326p.R249Rc.747A>GSubstitution - coding silent
KIAA1109ENSG00000138688ENST00000264501p.R969Qc.2906G>ASubstitution - Missense
ACTL7BENSG00000148156ENST00000374667p.V178Mc.532G>ASubstitution - Missense
MAMLD1ENSG00000013619ENST00000432680p.L158Lc.474C>TSubstitution - coding silent
COL3A1ENSG00000168542ENST00000317840p.P700Lc.2099C>TSubstitution - Missense
SU_NEK5p.?c.1651-3A>TUnknown
ADKENSG00000156110ENST00000286621p.E260Dc.780G>CSubstitution - Missense
RHBGENSG00000132677ENST00000451864p.?c.1000+2T>GUnknown
LRRC27ENSG00000148814ENST00000368614p.P325Pc.975G>ASubstitution - coding silent
C11orf30ENSG00000158636ENST00000334736p.M1152Ic.3456G>CSubstitution - Missense
FMN2ENSG00000155816ENST00000319653p.P1262Lc.3785C>TSubstitution - Missense
SRRM4ENSG00000139767ENST00000267260p.G58Ec.173G>ASubstitution - Missense
ANKRD26ENSG00000107890ENST00000376087p.M1Ic.3G>ASubstitution - Missense
EXTL1ENSG00000158008ENST00000374280p.V522Gc.1565T>GSubstitution - Missense
ALBENSG00000163631ENST00000295897p.K249Qc.745A>CSubstitution - Missense
ZNF267ENSG00000185947ENST00000300870p.N293Dc.877A>GSubstitution - Missense
COLEC11ENSG00000118004ENST00000236693p.R78Sc.232C>ASubstitution - Missense
C3orf20ENSG00000131379ENST00000253697p.D828Yc.2482G>TSubstitution - Missense
USP34ENSG00000115464ENST00000398571p.M2474Lc.7420A>CSubstitution - Missense
FOXR2ENSG00000189299ENST00000339140p.S150Sc.450T>CSubstitution - coding silent
ARR3ENSG00000120500ENST00000307959p.?c.100+9G>AUnknown
PSIP1ENSG00000164985ENST00000380716p.S94Tc.281G>CSubstitution - Missense
SALL3ENSG00000256463ENST00000537592p.V865Vc.2595G>ASubstitution - coding silent
SEL1L3ENSG00000091490ENST00000264868p.?c.1851+1G>AUnknown
LCN9ENSG00000148386ENST00000277526p.D154Nc.460G>ASubstitution - Missense
AQP1ENSG00000240583ENST00000441328p.D176Nc.526G>ASubstitution - Missense
LPHN3ENSG00000150471ENST00000514591p.S1309Sc.3927G>ASubstitution - coding silent
NM_005491.1p.M215Lc.643A>CSubstitution - Missense
ENST00000341597p.G47Dc.140G>ASubstitution - Missense
OR1L6ENSG00000171459ENST00000373684p.S130Sc.390C>TSubstitution - coding silent
GDPD5ENSG00000158555ENST00000336898p.S478Sc.1434C>ASubstitution - coding silent
LPHN3ENSG00000150471ENST00000507625p.S1368Sc.4104G>ASubstitution - coding silent
RPL10ENSG00000147403ENST00000369817p.H92Pc.275A>CSubstitution - Missense
LIN9ENSG00000183814ENST00000328205p.N556Sc.1667A>GSubstitution - Missense
ROBO4ENSG00000154133ENST00000306534p.E723Kc.2167G>ASubstitution - Missense
MYH6ENSG00000197616ENST00000356287p.K1618Kc.4854G>ASubstitution - coding silent
AKAP13ENSG00000170776ENST00000394518p.Q1145Qc.3435G>ASubstitution - coding silent
TACC2ENSG00000138162ENST00000453444p.K2698Rc.8093A>GSubstitution - Missense
MEGF11ENSG00000157890ENST00000395625p.A776Vc.2327C>TSubstitution - Missense
ZNFX1ENSG00000124201ENST00000371754p.I825Ic.2475C>TSubstitution - coding silent
LOXHD1ENSG00000167210ENST00000536736p.P1274Sc.3820C>TSubstitution - Missense
MYO18BENSG00000133454ENST00000335473p.?c.4225-8T>CUnknown
OR5AC2ENSG00000196578ENST00000358642p.T281Tc.843G>ASubstitution - coding silent
TIAM2ENSG00000146426ENST00000318981p.E1571*c.4711G>TSubstitution - Nonsense
TRPC3ENSG00000138741ENST00000264811p.L440Lc.1318C>TSubstitution - coding silent
SAP130ENSG00000136715ENST00000259235p.A747Tc.2239G>ASubstitution - Missense
TRPC7ENSG00000069018ENST00000513104p.F689Fc.2067C>TSubstitution - coding silent
SAMD12ENSG00000177570ENST00000314727p.Q139*c.415C>TSubstitution - Nonsense
IARSENSG00000196305ENST00000375643p.K725Kc.2175G>ASubstitution - coding silent
VWA5B2ENSG00000145198ENST00000426955p.A499Ac.1497C>TSubstitution - coding silent
VWA5B2ENSG00000145198ENST00000426955p.R264Wc.790C>TSubstitution - Missense
BAI3ENSG00000135298ENST00000238918p.E479Kc.1435G>ASubstitution - Missense
NPR2ENSG00000159899ENST00000342694p.Q1016Hc.3048G>TSubstitution - Missense
NEK5ENSG00000197168ENST00000355568p.?c.1480-3A>TUnknown
B4GALNT4ENSG00000182272ENST00000329962p.D993Gc.2978A>GSubstitution - Missense
CPSF2ENSG00000165934ENST00000298875p.T699Ac.2095A>GSubstitution - Missense
ENST00000429478p.P935Pc.2805C>GSubstitution - coding silent
TAS2R16ENSG00000128519ENST00000249284p.L229Fc.685C>TSubstitution - Missense
RNF213ENSG00000173821ENST00000456466p.C701Sc.2101T>ASubstitution - Missense
AOX1ENSG00000138356ENST00000374700p.A824Vc.2471C>TSubstitution - Missense
MAK16ENSG00000198042ENST00000360128p.F234Sc.701T>CSubstitution - Missense
BMP15ENSG00000130385ENST00000252677p.S366Tc.1097G>CSubstitution - Missense
NM_001001671.1p.G569Rc.1705G>ASubstitution - Missense
FARSBENSG00000116120ENST00000281828p.I462Tc.1385T>CSubstitution - Missense
FTMTENSG00000181867ENST00000321339p.H117Nc.349C>ASubstitution - Missense
WDR62ENSG00000075702ENST00000270301p.R1340Cc.4018C>TSubstitution - Missense
RHBDL3ENSG00000141314ENST00000269051p.V239Vc.717G>ASubstitution - coding silent
SGK1ENSG00000118515ENST00000413996p.?c.705-107_1171-32del1957Unknown
ENST00000373969p.R361Gc.1081C>GSubstitution - Missense
GHRENSG00000112964ENST00000230882p.?c.267-3T>CUnknown
MEGF11ENSG00000157890ENST00000395614p.A24Vc.71C>TSubstitution - Missense
TRMUENSG00000100416ENST00000290846p.V279Mc.835G>ASubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.E5382*c.16144G>TSubstitution - Nonsense
COL11A1ENSG00000060718ENST00000358392p.G93Ec.278G>ASubstitution - Missense
PCNXENSG00000100731ENST00000304743p.P1239Sc.3715C>TSubstitution - Missense
ATP11AENSG00000068650ENST00000375645p.?c.441+2T>CUnknown
C21orf88ENSG00000184809ENST00000380612p.A32Vc.95C>TSubstitution - Missense
DYSFENSG00000135636ENST00000410020p.P1778Sc.5332C>TSubstitution - Missense
ENST00000333535_v68p.S1096Gc.3286A>GSubstitution - Missense
ARHGAP25ENSG00000163219ENST00000409202p.K55Ec.163A>GSubstitution - Missense
TLE1ENSG00000196781ENST00000376499p.?c.1332-7C>TUnknown
KSR2ENSG00000171435ENST00000339824p.E324Kc.970G>ASubstitution - Missense
AGBL1ENSG00000166748ENST00000441037p.D251Nc.751G>ASubstitution - Missense
HEATR1ENSG00000119285ENST00000366582p.A726Vc.2177C>TSubstitution - Missense
NDUFB8ENSG00000166136ENST00000299166p.V146Gc.437T>GSubstitution - Missense
ENST00000333475p.G21Gc.63G>CSubstitution - coding silent
ADCY10ENSG00000143199ENST00000367851p.I666Vc.1996A>GSubstitution - Missense
MARK2ENSG00000072518ENST00000402010p.R445Rc.1335G>ASubstitution - coding silent
MARK2ENSG00000072518ENST00000509502p.R411Rc.1233G>ASubstitution - coding silent
DIO3ENSG00000197406ENST00000510508p.L152Lc.456C>TSubstitution - coding silent
RALYLENSG00000184672ENST00000522455p.I242Ic.726C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.W12584Rc.37750T>ASubstitution - Missense
RANBP2ENSG00000153201ENST00000283195p.E2603Gc.7808A>GSubstitution - Missense
SPHKAPENSG00000153820ENST00000392056p.E372Kc.1114G>ASubstitution - Missense
DMDENSG00000198947ENST00000357033p.?c.5325+5G>AUnknown
POLR2IENSG00000105258ENST00000221859p.P9Pc.27G>TSubstitution - coding silent
SEC62ENSG00000008952ENST00000337002p.G323Rc.967G>ASubstitution - Missense
SAPCD1ENSG00000228727ENST00000415669p.L56Lc.168G>ASubstitution - coding silent
ANKLE1ENSG00000160117ENST00000404261p.T562Mc.1685C>TSubstitution - Missense
NM_138995p.V679Ic.2035G>ASubstitution - Missense
SETENSG00000119335ENST00000372692p.?c.848_850-3del598Unknown
COL11A1ENSG00000060718ENST00000370096p.V671Vc.2013A>GSubstitution - coding silent
SEC31AENSG00000138674ENST00000264405p.P447Sc.1339C>TSubstitution - Missense
XM_291344.4p.P85Qc.254C>ASubstitution - Missense
DNAH8ENSG00000124721ENST00000449981p.E3888Kc.11662G>ASubstitution - 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