Tag | Content |
---|---|
Uniprot ID | Q9Y2T1; Q3MJ88; Q9H3M6; Q9UH84; |
Entrez ID | 8313 |
Genbank protein ID | AAD20976.1; AAI01534.1; AAF22799.1; BAB19762.1; |
Genbank nucleotide ID | NM_004655.3 |
Ensembl protein ID | ENSP00000302625 |
Ensembl nucleotide ID | ENSG00000168646 |
Gene name | Axin-2 |
Gene symbol | AXIN2 |
Organism | Homo sapiens |
NCBI taxa ID | 9606 |
Cleft type | |
Developmental stage | |
Data sources | Manually collected |
Reference | 28376813; 24484320; 26602496; 22370446; |
Functional description | Inhibitor of the Wnt signaling pathway. Down-regulates beta-catenin. Probably facilitate the phosphorylation of beta-catenin and APC by GSK3B. |
Sequence | MSSAMLVTCL PDPSSSFRED APRPPVPGEE GETPPCQPGV GKGQVTKPMS VSSNTRRNED 60 GLGEPEGRAS PDSPLTRWTK SLHSLLGDQD GAYLFRTFLE REKCVDTLDF WFACNGFRQM 120 NLKDTKTLRV AKAIYKRYIE NNSIVSKQLK PATKTYIRDG IKKQQIDSIM FDQAQTEIQS 180 VMEENAYQMF LTSDIYLEYV RSGGENTAYM SNGGLGSLKV VCGYLPTLNE EEEWTCADFK 240 CKLSPTVVGL SSKTLRATAS VRSTETVDSG YRSFKRSDPV NPYHIGSGYV FAPATSANDS 300 EISSDALTDD SMSMTDSSVD GIPPYRVGSK KQLQREMHRS VKANGQVSLP HFPRTHRLPK 360 EMTPVEPATF AAELISRLEK LKLELESRHS LEERLQQIRE DEEREGSELT LNSREGAPTQ 420 HPLSLLPSGS YEEDPQTILD DHLSRVLKTP GCQSPGVGRY SPRSRSPDHH HHHHSQYHSL 480 LPPGGKLPPA AASPGACPLL GGKGFVTKQT TKHVHHHYIH HHAVPKTKEE IEAEATQRVH 540 CFCPGGSEYY CYSKCKSHSK APETMPSEQF GGSRGSTLPK RNGKGTEPGL ALPAREGGAP 600 GGAGALQLPR EEGDRSQDVW QWMLESERQS KPKPHSAQST KKAYPLESAR SSPGERASRH 660 HLWGGNSGHP RTTPRAHLFT QDPAMPPLTP PNTLAQLEEA CRRLAEVSKP PKQRCCVASQ 720 QRDRNHSATV QTGATPFSNP SLAPEDHKEP KKLAGVHALQ ASELVVTYFF CGEEIPYRRM 780 LKAQSLTLGH FKEQLSKKGN YRYYFKKASD EFACGAVFEE IWEDETVLPM YEGRILGKVE 840 RID 843 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
---|---|---|---|---|---|---|---|---|
1:1 ortholog | AXIN2 | 490903 | E2R9F8 | Canis lupus familiaris | Prediction | More>> | ||
1:1 ortholog | AXIN2 | 102180348 | A0A452FEH8 | Capra hircus | Prediction | More>> | ||
1:1 ortholog | AXIN2 | 8313 | Q9Y2T1 | Homo sapiens | Publication | More>> | ||
1:1 ortholog | Axin2 | 12006 | O88566 | E13.5 | Mus musculus | Prediction | More>> | |
1:1 ortholog | AXIN2 | 468301 | A0A2I3SZU8 | Pan troglodytes | Prediction | More>> | ||
1:1 ortholog | AXIN2 | A0A287BFQ6 | Sus scrofa | Prediction | More>> | |||
1:1 ortholog | Axin2 | A0A0G2K4L4 | Rattus norvegicus | Prediction | More>> | |||
1:1 ortholog | axin2 | 58080 | P57095 | Danio rerio | Prediction | More>> |
ID | Variant | Type | Disease | Chromosome\Coordinate | Evidence |
---|---|---|---|---|---|
rs1475337539 | p.Ser2Arg | missense variant | - | NC_000017.11:g.65558615A>C | gnomAD |
rs762626041 | p.Ser3Gly | missense variant | - | NC_000017.11:g.65558614T>C | ExAC,gnomAD |
rs553412612 | p.Ser3Arg | missense variant | - | NC_000017.11:g.65558612G>C | 1000Genomes |
rs1175877868 | p.Ala4Thr | missense variant | - | NC_000017.11:g.65558611C>T | gnomAD |
rs148691166 | p.Met5Val | missense variant | - | NC_000017.11:g.65558608T>C | ESP,ExAC,TOPMed,gnomAD |
rs730881397 | p.Met5Arg | missense variant | - | NC_000017.11:g.65558607A>C | gnomAD |
NCI-TCGA novel | p.Met5CysPheSerTerUnk | frameshift | - | NC_000017.11:g.65558609A>- | NCI-TCGA |
rs730881397 | p.Met5Lys | missense variant | - | NC_000017.11:g.65558607A>T | gnomAD |
rs878854723 | p.Val7Leu | missense variant | - | NC_000017.11:g.65558602C>A | TOPMed,gnomAD |
rs878854723 | p.Val7Met | missense variant | - | NC_000017.11:g.65558602C>T | TOPMed,gnomAD |
rs1275134450 | p.Thr8Ser | missense variant | - | NC_000017.11:g.65558599T>A | gnomAD |
rs765173791 | p.Cys9Phe | missense variant | - | NC_000017.11:g.65558595C>A | ExAC,gnomAD |
rs776778201 | p.Pro11Leu | missense variant | - | NC_000017.11:g.65558589G>A | ExAC,gnomAD |
rs1064793821 | p.Asp12His | missense variant | - | NC_000017.11:g.65558587C>G | - |
rs1375330430 | p.Pro13Ser | missense variant | - | NC_000017.11:g.65558584G>A | gnomAD |
rs759551291 | p.Ser15Gly | missense variant | - | NC_000017.11:g.65558578T>C | ExAC,gnomAD |
rs878854732 | p.Arg18Leu | missense variant | - | NC_000017.11:g.65558568C>A | gnomAD |
rs878854732 | p.Arg18Pro | missense variant | - | NC_000017.11:g.65558568C>G | gnomAD |
rs878854732 | p.Arg18His | missense variant | - | NC_000017.11:g.65558568C>T | gnomAD |
COSM3820283 | p.Arg18Cys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.65558569G>A | NCI-TCGA Cosmic |
rs768267292 | p.Asp20Asn | missense variant | - | NC_000017.11:g.65558563C>T | gnomAD |
rs768267292 | p.Asp20His | missense variant | - | NC_000017.11:g.65558563C>G | gnomAD |
NCI-TCGA novel | p.Ala21Val | missense variant | - | NC_000017.11:g.65558559G>A | NCI-TCGA |
rs1343964499 | p.Pro22Leu | missense variant | - | NC_000017.11:g.65558556G>A | gnomAD |
NCI-TCGA novel | p.Arg23AlaPheSerTerUnkUnkUnk | frameshift | - | NC_000017.11:g.65558555_65558556insG | NCI-TCGA |
COSM983049 | p.Arg23Trp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.65558554G>A | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Pro27GlnPheSerTerUnkUnk | frameshift | - | NC_000017.11:g.65558541G>- | NCI-TCGA |
NCI-TCGA novel | p.Glu30Asp | missense variant | - | NC_000017.11:g.65558531T>G | NCI-TCGA |
rs1381395730 | p.Gly31Arg | missense variant | - | NC_000017.11:g.65558530C>G | gnomAD |
rs1381395730 | p.Gly31Arg | missense variant | - | NC_000017.11:g.65558530C>T | gnomAD |
rs1173490917 | p.Glu32Lys | missense variant | - | NC_000017.11:g.65558527C>T | gnomAD |
rs1453134737 | p.Glu32Asp | missense variant | - | NC_000017.11:g.65558525C>A | gnomAD |
rs1453134737 | p.Glu32Asp | missense variant | - | NC_000017.11:g.65558525C>G | gnomAD |
rs771093792 | p.Thr33Ser | missense variant | - | NC_000017.11:g.65558523G>C | ExAC,gnomAD |
rs771093792 | p.Thr33Asn | missense variant | - | NC_000017.11:g.65558523G>T | ExAC,gnomAD |
rs574154714 | p.Pro34Ala | missense variant | - | NC_000017.11:g.65558521G>C | 1000Genomes,ExAC,gnomAD |
rs574154714 | p.Pro34Ser | missense variant | - | NC_000017.11:g.65558521G>A | 1000Genomes,ExAC,gnomAD |
rs770206565 | p.Pro34Gln | missense variant | - | NC_000017.11:g.65558520G>T | ExAC,gnomAD |
rs748495558 | p.Pro35Leu | missense variant | - | NC_000017.11:g.65558517G>A | ExAC,gnomAD |
rs1555583751 | p.Cys36Tyr | missense variant | - | NC_000017.11:g.65558514C>T | - |
rs1555583747 | p.Gln37Ter | stop gained | - | NC_000017.11:g.65558512G>A | - |
rs1555583744 | p.Pro38Leu | missense variant | - | NC_000017.11:g.65558508G>A | - |
rs878854716 | p.Pro38Ala | missense variant | - | NC_000017.11:g.65558509G>C | - |
rs1555583743 | p.Val40Met | missense variant | - | NC_000017.11:g.65558503C>T | - |
rs781560435 | p.Val40Gly | missense variant | - | NC_000017.11:g.65558502A>C | ExAC,gnomAD |
rs755444120 | p.Gly41Cys | missense variant | - | NC_000017.11:g.65558500C>A | ExAC |
rs751061508 | p.Gly41Val | missense variant | - | NC_000017.11:g.65558499C>A | ExAC,gnomAD |
rs751061508 | p.Gly41Asp | missense variant | - | NC_000017.11:g.65558499C>T | ExAC,gnomAD |
rs1555583730 | p.Lys42Asn | missense variant | - | NC_000017.11:g.65558495C>G | - |
rs779567219 | p.Lys42Arg | missense variant | - | NC_000017.11:g.65558496T>C | ExAC,gnomAD |
NCI-TCGA novel | p.Gly43Asp | missense variant | - | NC_000017.11:g.65558493C>T | NCI-TCGA |
rs1345677890 | p.Gly43Ser | missense variant | - | NC_000017.11:g.65558494C>T | gnomAD |
rs1060502131 | p.Gln44Leu | missense variant | - | NC_000017.11:g.65558490T>A | gnomAD |
rs1555583721 | p.Thr46Ala | missense variant | - | NC_000017.11:g.65558485T>C | - |
rs1555583718 | p.Pro48Leu | missense variant | - | NC_000017.11:g.65558478G>A | - |
rs373435521 | p.Pro48Ser | missense variant | - | NC_000017.11:g.65558479G>A | ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Met49ProPheSerTerUnkUnk | frameshift | - | NC_000017.11:g.65558476_65558477insGG | NCI-TCGA |
rs1433573233 | p.Met49Leu | missense variant | - | NC_000017.11:g.65558476T>G | TOPMed |
rs2240308 | p.Ser50Pro | missense variant | - | NC_000017.11:g.65558473G>A | UniProt,dbSNP |
VAR_054860 | p.Ser50Pro | missense variant | - | NC_000017.11:g.65558473G>A | UniProt |
rs2240308 | p.Pro50Ser | missense variant | - | NC_000017.11:g.65558473G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
VAR_054860 | p.Ser50Pro | Missense | - | - | UniProt |
rs753631236 | p.Val51Leu | missense variant | - | NC_000017.11:g.65558470C>G | ExAC,gnomAD |
rs760625400 | p.Ser53Cys | missense variant | - | NC_000017.11:g.65558463G>C | ExAC,gnomAD |
rs876661194 | p.Asn54Ser | missense variant | - | NC_000017.11:g.65558460T>C | - |
rs1427989179 | p.Asn54Lys | missense variant | - | NC_000017.11:g.65558459G>T | gnomAD |
rs899824837 | p.Arg56Ser | missense variant | - | NC_000017.11:g.65558453C>A | TOPMed |
rs1431601772 | p.Arg56Gly | missense variant | - | NC_000017.11:g.65558455T>C | TOPMed |
rs1555583686 | p.Arg57Trp | missense variant | - | NC_000017.11:g.65558452G>A | - |
rs771078276 | p.Arg57Gln | missense variant | - | NC_000017.11:g.65558451C>T | ExAC,gnomAD |
rs763012548 | p.Asn58Lys | missense variant | - | NC_000017.11:g.65558447G>C | ExAC,TOPMed,gnomAD |
rs773477442 | p.Glu59Gln | missense variant | - | NC_000017.11:g.65558446C>G | ExAC,gnomAD |
rs1555583673 | p.Asp60Gly | missense variant | - | NC_000017.11:g.65558442T>C | - |
rs1018815193 | p.Gly61Glu | missense variant | - | NC_000017.11:g.65558439C>T | TOPMed,gnomAD |
rs1018815193 | p.Gly61Ala | missense variant | - | NC_000017.11:g.65558439C>G | TOPMed,gnomAD |
NCI-TCGA novel | p.Leu62Ser | missense variant | - | NC_000017.11:g.65558436A>G | NCI-TCGA |
rs1060502158 | p.Gly63Arg | missense variant | - | NC_000017.11:g.65558434C>G | - |
COSM983047 | p.Pro65Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.65558427G>A | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Arg68Trp | missense variant | - | NC_000017.11:g.65558419G>A | NCI-TCGA |
rs138056036 | p.Arg68Gln | missense variant | - | NC_000017.11:g.65558418C>T | ESP,ExAC,TOPMed,gnomAD |
rs1555583645 | p.Ser70Phe | missense variant | - | NC_000017.11:g.65558412G>A | - |
rs1060502145 | p.Pro71Leu | missense variant | - | NC_000017.11:g.65558409G>A | - |
rs769064498 | p.Pro71Ser | missense variant | - | NC_000017.11:g.65558410G>A | ExAC,TOPMed,gnomAD |
rs747599888 | p.Asp72His | missense variant | - | NC_000017.11:g.65558407C>G | ExAC,gnomAD |
rs1306348080 | p.Ser73Cys | missense variant | - | NC_000017.11:g.65558403G>C | gnomAD |
rs780394272 | p.Leu75Val | missense variant | - | NC_000017.11:g.65558398G>C | ExAC,gnomAD |
rs730881402 | p.Thr76Ser | missense variant | - | NC_000017.11:g.65558394G>C | ExAC,TOPMed,gnomAD |
rs778517452 | p.Arg77Gln | missense variant | - | NC_000017.11:g.65558391C>T | ExAC,TOPMed,gnomAD |
rs1202629263 | p.Thr79Ile | missense variant | - | NC_000017.11:g.65558385G>A | TOPMed |
rs369009135 | p.Lys80Arg | missense variant | - | NC_000017.11:g.65558382T>C | ESP |
rs756904728 | p.Ser81Ala | missense variant | - | NC_000017.11:g.65558380A>C | ExAC,gnomAD |
rs146238336 | p.Ser81Phe | missense variant | - | NC_000017.11:g.65558379G>A | ESP,ExAC,TOPMed,gnomAD |
rs1488655314 | p.His83Tyr | missense variant | - | NC_000017.11:g.65558374G>A | TOPMed |
rs878854729 | p.Ser84Cys | missense variant | - | NC_000017.11:g.65558370G>C | TOPMed |
rs1060502137 | p.Leu85Ser | missense variant | - | NC_000017.11:g.65558367A>G | - |
rs1186148018 | p.Asp88Gly | missense variant | - | NC_000017.11:g.65558358T>C | gnomAD |
rs752743306 | p.Asp88His | missense variant | - | NC_000017.11:g.65558359C>G | ExAC,gnomAD |
rs767340577 | p.Asp88Glu | missense variant | - | NC_000017.11:g.65558357A>T | ExAC,gnomAD |
rs1258020418 | p.Gln89Arg | missense variant | - | NC_000017.11:g.65558355T>C | gnomAD |
rs1250947526 | p.Gln89Lys | missense variant | - | NC_000017.11:g.65558356G>T | TOPMed |
rs141655687 | p.Asp90Glu | missense variant | - | NC_000017.11:g.65558351G>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1480283302 | p.Gly91Ser | missense variant | - | NC_000017.11:g.65558350C>T | gnomAD |
COSM1324898 | p.Tyr93Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.65558343T>A | NCI-TCGA Cosmic |
rs1555583568 | p.Phe95Leu | missense variant | - | NC_000017.11:g.65558336G>T | - |
COSM983045 | p.Arg96Gln | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.65558334C>T | NCI-TCGA Cosmic |
COSM5889324 | p.Arg96Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.65558335G>A | NCI-TCGA Cosmic |
rs1555583566 | p.Thr97Ile | missense variant | - | NC_000017.11:g.65558331G>A | - |
COSM1385337 | p.Thr97PhePheSerTerUnkUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.65558332_65558333TT>- | NCI-TCGA Cosmic |
rs773206945 | p.Phe98Leu | missense variant | - | NC_000017.11:g.65558329A>G | ExAC,gnomAD |
rs769104629 | p.Glu102Lys | missense variant | - | NC_000017.11:g.65558317C>T | ExAC,gnomAD |
NCI-TCGA novel | p.Lys103AsnPheSerTerUnk | frameshift | - | NC_000017.11:g.65558315C>- | NCI-TCGA |
rs186514805 | p.Lys103Arg | missense variant | - | NC_000017.11:g.65558313T>C | 1000Genomes,ExAC,gnomAD |
rs373628863 | p.Cys104Trp | missense variant | - | NC_000017.11:g.65558309G>C | ESP,ExAC,TOPMed |
rs752881223 | p.Val105Gly | missense variant | - | NC_000017.11:g.65558307A>C | - |
rs1555583537 | p.Thr107Ala | missense variant | - | NC_000017.11:g.65558302T>C | - |
rs112058150 | p.Leu108Val | missense variant | - | NC_000017.11:g.65558299A>C | - |
rs1176996295 | p.Asp109Glu | missense variant | - | NC_000017.11:g.65558294G>T | TOPMed,gnomAD |
NCI-TCGA novel | p.Trp111GlyPheSerTerUnkUnk | frameshift | - | NC_000017.11:g.65558290A>- | NCI-TCGA |
NCI-TCGA novel | p.Cys114Gly | missense variant | - | NC_000017.11:g.65558281A>C | NCI-TCGA |
COSM3421803 | p.Cys114Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.65558280C>A | NCI-TCGA Cosmic |
rs370257532 | p.Asn115Ser | missense variant | - | NC_000017.11:g.65558277T>C | ESP,ExAC,TOPMed,gnomAD |
rs756996397 | p.Arg118Lys | missense variant | - | NC_000017.11:g.65558268C>T | ExAC,gnomAD |
rs777282977 | p.Gln119Pro | missense variant | - | NC_000017.11:g.65558265T>G | ExAC,TOPMed,gnomAD |
rs777282977 | p.Gln119Arg | missense variant | - | NC_000017.11:g.65558265T>C | ExAC,TOPMed,gnomAD |
COSM983041 | p.Gln119His | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.65558264C>A | NCI-TCGA Cosmic |
COSM1184282 | p.Met120Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.65558261C>A | NCI-TCGA Cosmic |
rs1162974793 | p.Leu122Arg | missense variant | - | NC_000017.11:g.65558256A>C | TOPMed,gnomAD |
rs755990979 | p.Asp124Asn | missense variant | - | NC_000017.11:g.65558251C>T | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Thr125SerPheSerTerUnkUnk | frameshift | - | NC_000017.11:g.65558231_65558247TACTCGTAAAGTTTTGG>- | NCI-TCGA |
COSM983039 | p.Arg129Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.65558235C>A | NCI-TCGA Cosmic |
COSM4837262 | p.Arg129Gln | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.65558235C>T | NCI-TCGA Cosmic |
rs947743204 | p.Ala131Gly | missense variant | - | NC_000017.11:g.65558229G>C | TOPMed,gnomAD |
NCI-TCGA novel | p.Ala131Ser | missense variant | - | NC_000017.11:g.65558230C>A | NCI-TCGA |
rs767445163 | p.Ala133Val | missense variant | - | NC_000017.11:g.65558223G>A | ExAC,gnomAD |
rs916243872 | p.Ile134Val | missense variant | - | NC_000017.11:g.65558221T>C | TOPMed |
rs144607215 | p.Tyr135Asn | missense variant | - | NC_000017.11:g.65558218A>T | ESP |
rs1457819815 | p.Lys136Arg | missense variant | - | NC_000017.11:g.65558214T>C | gnomAD |
rs1060502146 | p.Ile139Val | missense variant | - | NC_000017.11:g.65558206T>C | - |
NCI-TCGA novel | p.Glu140Gln | missense variant | - | NC_000017.11:g.65558203C>G | NCI-TCGA |
rs1211381343 | p.Asn141Ser | missense variant | - | NC_000017.11:g.65558199T>C | gnomAD |
rs765336893 | p.Asn142Ser | missense variant | - | NC_000017.11:g.65558196T>C | gnomAD |
rs765348456 | p.Ser143Gly | missense variant | - | NC_000017.11:g.65558194T>C | ExAC,gnomAD |
rs761849564 | p.Ser143Asn | missense variant | - | NC_000017.11:g.65558193C>T | ExAC,gnomAD |
rs1555583470 | p.Ile144Val | missense variant | - | NC_000017.11:g.65558191T>C | - |
rs1309778870 | p.Gln148Arg | missense variant | - | NC_000017.11:g.65558178T>C | gnomAD |
rs772740656 | p.Ala152Thr | missense variant | - | NC_000017.11:g.65558167C>T | ExAC,TOPMed,gnomAD |
rs1555583456 | p.Thr153Ile | missense variant | - | NC_000017.11:g.65558163G>A | - |
rs1443332884 | p.Thr155Ala | missense variant | - | NC_000017.11:g.65558158T>C | gnomAD |
rs1060502159 | p.Tyr156Cys | missense variant | - | NC_000017.11:g.65558154T>C | gnomAD |
COSM6081719 | p.Tyr156Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.65558153G>T | NCI-TCGA Cosmic |
rs951973598 | p.Ile157Val | missense variant | - | NC_000017.11:g.65558152T>C | TOPMed |
rs748730853 | p.Arg158Thr | missense variant | - | NC_000017.11:g.65558148C>G | ExAC,TOPMed,gnomAD |
rs753036084 | p.Asp159His | missense variant | - | NC_000017.11:g.65558146C>G | ExAC,TOPMed,gnomAD |
rs753036084 | p.Asp159Tyr | missense variant | - | NC_000017.11:g.65558146C>A | ExAC,TOPMed,gnomAD |
rs753036084 | p.Asp159Asn | missense variant | - | NC_000017.11:g.65558146C>T | ExAC,TOPMed,gnomAD |
rs1162424416 | p.Gly160Asp | missense variant | - | NC_000017.11:g.65558142C>T | TOPMed |
rs1160324143 | p.Ile161Met | missense variant | - | NC_000017.11:g.65558138G>C | gnomAD |
rs370606806 | p.Lys162Arg | missense variant | - | NC_000017.11:g.65558136T>C | ESP,TOPMed |
rs748004347 | p.Lys162Glu | missense variant | - | NC_000017.11:g.65558137T>C | ExAC,gnomAD |
rs370606806 | p.Lys162Thr | missense variant | - | NC_000017.11:g.65558136T>G | ESP,TOPMed |
NCI-TCGA novel | p.Gln164Glu | missense variant | - | NC_000017.11:g.65558131G>C | NCI-TCGA |
rs1555583424 | p.Ile166Thr | missense variant | - | NC_000017.11:g.65558124A>G | - |
rs375603095 | p.Asp167Glu | missense variant | - | NC_000017.11:g.65558120A>C | ESP,TOPMed |
NCI-TCGA novel | p.Asp167His | missense variant | - | NC_000017.11:g.65558122C>G | NCI-TCGA |
rs1060502155 | p.Ile169Val | missense variant | - | NC_000017.11:g.65558116T>C | - |
NCI-TCGA novel | p.Phe171Cys | missense variant | - | NC_000017.11:g.65558109A>C | NCI-TCGA |
NCI-TCGA novel | p.Phe171Ser | missense variant | - | NC_000017.11:g.65558109A>G | NCI-TCGA |
COSM1479877 | p.Asp172His | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.65558107C>G | NCI-TCGA Cosmic |
rs886053281 | p.Gln173Lys | missense variant | - | NC_000017.11:g.65558104G>T | - |
rs1555583417 | p.Ala174Val | missense variant | - | NC_000017.11:g.65558100G>A | - |
NCI-TCGA novel | p.Gln175Ter | stop gained | - | NC_000017.11:g.65558098G>A | NCI-TCGA |
rs878854731 | p.Thr176Ile | missense variant | - | NC_000017.11:g.65558094G>A | TOPMed,gnomAD |
NCI-TCGA novel | p.Glu177Ala | missense variant | - | NC_000017.11:g.65558091T>G | NCI-TCGA |
NCI-TCGA novel | p.Glu177Asp | missense variant | - | NC_000017.11:g.65558090C>G | NCI-TCGA |
rs1555583409 | p.Gln179Arg | missense variant | - | NC_000017.11:g.65558085T>C | - |
rs1348898769 | p.Val181Met | missense variant | - | NC_000017.11:g.65558080C>T | TOPMed,gnomAD |
rs976524379 | p.Met182Val | missense variant | - | NC_000017.11:g.65558077T>C | TOPMed,gnomAD |
rs1241449133 | p.Met182Thr | missense variant | - | NC_000017.11:g.65558076A>G | gnomAD |
rs538659423 | p.Glu184Lys | missense variant | - | NC_000017.11:g.65558071C>T | 1000Genomes |
rs1301940236 | p.Asn185His | missense variant | - | NC_000017.11:g.65558068T>G | gnomAD |
rs757415705 | p.Ala186Val | missense variant | - | NC_000017.11:g.65558064G>A | ExAC,gnomAD |
rs753137017 | p.Gln188His | missense variant | - | NC_000017.11:g.65558057C>G | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Gln188Pro | missense variant | - | NC_000017.11:g.65558058T>G | NCI-TCGA |
rs753803824 | p.Gln188Glu | missense variant | - | NC_000017.11:g.65558059G>C | ExAC,gnomAD |
rs149000772 | p.Gln188Arg | missense variant | - | NC_000017.11:g.65558058T>C | ESP,ExAC,TOPMed,gnomAD |
rs759953633 | p.Met189Lys | missense variant | - | NC_000017.11:g.65558055A>T | ExAC,gnomAD |
rs768030934 | p.Met189Leu | missense variant | - | NC_000017.11:g.65558056T>A | ExAC,gnomAD |
rs762082964 | p.Met189Ile | missense variant | - | NC_000017.11:g.65558054C>T | - |
NCI-TCGA novel | p.Phe190Cys | missense variant | - | NC_000017.11:g.65558052A>C | NCI-TCGA |
rs1337342790 | p.Phe190Leu | missense variant | - | NC_000017.11:g.65558051A>C | TOPMed,gnomAD |
NCI-TCGA novel | p.Leu191Phe | missense variant | - | NC_000017.11:g.65558048C>A | NCI-TCGA |
COSM1385335 | p.Leu191Ter | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.65558049A>- | NCI-TCGA Cosmic |
rs1413763058 | p.Thr192Ile | missense variant | - | NC_000017.11:g.65558046G>A | TOPMed |
rs775069864 | p.Ile195Thr | missense variant | - | NC_000017.11:g.65558037A>G | ExAC,TOPMed,gnomAD |
rs771501783 | p.Ile195Met | missense variant | - | NC_000017.11:g.65558036T>C | ExAC |
rs762542140 | p.Tyr196His | missense variant | - | NC_000017.11:g.65558035A>G | ExAC,gnomAD |
NCI-TCGA novel | p.Glu198Lys | missense variant | - | NC_000017.11:g.65558029C>T | NCI-TCGA |
rs1478720065 | p.Glu198Asp | missense variant | - | NC_000017.11:g.65558027T>A | gnomAD |
rs1555583360 | p.Glu198Ala | missense variant | - | NC_000017.11:g.65558028T>G | - |
rs772550463 | p.Glu198Gln | missense variant | - | NC_000017.11:g.65558029C>G | ExAC,gnomAD |
rs752081909 | p.Val200Met | missense variant | - | NC_000017.11:g.65558023C>T | ExAC,TOPMed,gnomAD |
rs999658623 | p.Arg201Lys | missense variant | - | NC_000017.11:g.65558019C>T | TOPMed,gnomAD |
NCI-TCGA novel | p.Ser202Arg | missense variant | - | NC_000017.11:g.65558015A>T | NCI-TCGA |
NCI-TCGA novel | p.Ser202Asn | missense variant | - | NC_000017.11:g.65558016C>T | NCI-TCGA |
rs780801809 | p.Ser202Arg | missense variant | - | NC_000017.11:g.65558017T>G | ExAC,TOPMed,gnomAD |
rs62640027 | p.Gly203Arg | missense variant | - | NC_000017.11:g.65558014C>T | ExAC,TOPMed,gnomAD |
rs62640027 | p.Gly203Arg | missense variant | - | NC_000017.11:g.65558014C>G | ExAC,TOPMed,gnomAD |
rs62640027 | p.Gly203Trp | missense variant | - | NC_000017.11:g.65558014C>A | ExAC,TOPMed,gnomAD |
rs1555583340 | p.Gly203Ala | missense variant | - | NC_000017.11:g.65558013C>G | - |
NCI-TCGA novel | p.Gly204GluPheSerTerUnk | frameshift | - | NC_000017.11:g.65558010C>- | NCI-TCGA |
rs201531372 | p.Ala208Val | missense variant | - | NC_000017.11:g.65557998G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs529954883 | p.Met210Thr | missense variant | - | NC_000017.11:g.65557992A>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs756185275 | p.Met210Ile | missense variant | - | NC_000017.11:g.65557991C>G | ExAC |
rs201399449 | p.Ser211Thr | missense variant | - | NC_000017.11:g.65557989C>G | 1000Genomes,gnomAD |
rs201399449 | p.Ser211Asn | missense variant | - | NC_000017.11:g.65557989C>T | 1000Genomes,gnomAD |
rs368610577 | p.Asn212Ser | missense variant | - | NC_000017.11:g.65557986T>C | ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Gly214AspPheSerTerUnk | frameshift | - | NC_000017.11:g.65557980C>- | NCI-TCGA |
rs1419378216 | p.Gly214Val | missense variant | - | NC_000017.11:g.65557980C>A | gnomAD |
rs1555583315 | p.Gly216Arg | missense variant | - | NC_000017.11:g.65557975C>T | - |
rs1044406215 | p.Gly216Glu | missense variant | - | NC_000017.11:g.65557974C>T | TOPMed |
rs759988180 | p.Ser217Arg | missense variant | - | NC_000017.11:g.65557970G>C | ExAC,gnomAD |
rs766935285 | p.Leu218Val | missense variant | - | NC_000017.11:g.65557969G>C | ExAC,TOPMed,gnomAD |
rs766935285 | p.Leu218Ile | missense variant | - | NC_000017.11:g.65557969G>T | ExAC,TOPMed,gnomAD |
rs1310922131 | p.Val220Ile | missense variant | - | NC_000017.11:g.65557963C>T | gnomAD |
rs1402235122 | p.Val221Leu | missense variant | - | NC_000017.11:g.65557960C>G | gnomAD |
rs878854733 | p.Gly223Arg | missense variant | - | NC_000017.11:g.65557954C>G | TOPMed,gnomAD |
rs878854733 | p.Gly223Ser | missense variant | - | NC_000017.11:g.65557954C>T | TOPMed,gnomAD |
rs1166843937 | p.Tyr224Cys | missense variant | - | NC_000017.11:g.65557950T>C | TOPMed,gnomAD |
rs1243178407 | p.Pro226His | missense variant | - | NC_000017.11:g.65557944G>T | TOPMed,gnomAD |
rs1483174622 | p.Thr227Ala | missense variant | - | NC_000017.11:g.65557942T>C | TOPMed |
rs1180715732 | p.Thr227Ile | missense variant | - | NC_000017.11:g.65557941G>A | TOPMed |
rs764704332 | p.Asn229Ile | missense variant | - | NC_000017.11:g.65557935T>A | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Asn229Asp | missense variant | - | NC_000017.11:g.65557936T>C | NCI-TCGA |
rs764704332 | p.Asn229Ser | missense variant | - | NC_000017.11:g.65557935T>C | ExAC,TOPMed,gnomAD |
rs761299800 | p.Glu231Lys | missense variant | - | NC_000017.11:g.65557930C>T | ExAC,gnomAD |
NCI-TCGA novel | p.Glu232Gln | missense variant | - | NC_000017.11:g.65557927C>G | NCI-TCGA |
rs776333136 | p.Thr235Ile | missense variant | - | NC_000017.11:g.65557917G>A | ExAC,gnomAD |
rs1194128028 | p.Cys236Tyr | missense variant | - | NC_000017.11:g.65557914C>T | gnomAD |
NCI-TCGA novel | p.Asp238His | missense variant | - | NC_000017.11:g.65557909C>G | NCI-TCGA |
rs1279069233 | p.Asp238Asn | missense variant | - | NC_000017.11:g.65557909C>T | TOPMed,gnomAD |
rs746819327 | p.Lys240Arg | missense variant | - | NC_000017.11:g.65557902T>C | ExAC,TOPMed,gnomAD |
rs1372561560 | p.Lys240Asn | missense variant | - | NC_000017.11:g.65557901C>G | TOPMed |
rs370549410 | p.Cys241Gly | missense variant | - | NC_000017.11:g.65557900A>C | ExAC,gnomAD |
rs1410654676 | p.Cys241Tyr | missense variant | - | NC_000017.11:g.65557899C>T | TOPMed |
rs1060502152 | p.Leu243Val | missense variant | - | NC_000017.11:g.65557894G>C | TOPMed |
rs199798353 | p.Ser244Leu | missense variant | - | NC_000017.11:g.65557890G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs199798353 | p.Ser244Trp | missense variant | - | NC_000017.11:g.65557890G>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs62640028 | p.Pro245Ser | missense variant | - | NC_000017.11:g.65557888G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs62640028 | p.Pro245Ala | missense variant | - | NC_000017.11:g.65557888G>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1555583222 | p.Thr246Ser | missense variant | - | NC_000017.11:g.65557885T>A | - |
rs755206242 | p.Val247Met | missense variant | - | NC_000017.11:g.65557882C>T | ExAC,TOPMed,gnomAD |
rs755206242 | p.Val247Leu | missense variant | - | NC_000017.11:g.65557882C>G | ExAC,TOPMed,gnomAD |
rs755206242 | p.Val247Leu | missense variant | - | NC_000017.11:g.65557882C>A | ExAC,TOPMed,gnomAD |
rs758769942 | p.Val248Ile | missense variant | - | NC_000017.11:g.65557879C>T | ExAC,TOPMed,gnomAD |
rs1555583211 | p.Val248Gly | missense variant | - | NC_000017.11:g.65557878A>C | - |
rs758769942 | p.Val248Phe | missense variant | - | NC_000017.11:g.65557879C>A | ExAC,TOPMed,gnomAD |
rs1060502149 | p.Leu250Phe | missense variant | - | NC_000017.11:g.65557871C>A | TOPMed |
rs750951236 | p.Ser252Ile | missense variant | - | NC_000017.11:g.65557866C>A | ExAC,TOPMed,gnomAD |
rs1064796197 | p.Ser252Pro | missense variant | - | NC_000017.11:g.65557866_65557867delinsGG | - |
NCI-TCGA novel | p.Thr254ProPheSerTerUnk | frameshift | - | NC_000017.11:g.65557852_65557861CCCTCAGAGT>- | NCI-TCGA |
rs142454363 | p.Arg256Ser | missense variant | - | NC_000017.11:g.65557853C>A | ESP,ExAC |
NCI-TCGA novel | p.Arg256GluPheSerTerUnkUnk | frameshift | - | NC_000017.11:g.65557856_65557857insA | NCI-TCGA |
rs761317788 | p.Ala257Val | missense variant | - | NC_000017.11:g.65557851G>A | ExAC,gnomAD |
rs1183931601 | p.Thr258Ala | missense variant | - | NC_000017.11:g.65557849T>C | gnomAD |
rs1473358053 | p.Thr258Met | missense variant | - | NC_000017.11:g.65557848G>A | gnomAD |
NCI-TCGA novel | p.Ala259ArgPheSerTerUnk | frameshift | - | NC_000017.11:g.65557846C>- | NCI-TCGA |
rs1239640498 | p.Ala259Val | missense variant | - | NC_000017.11:g.65557845G>A | gnomAD |
rs760279483 | p.Val261Glu | missense variant | - | NC_000017.11:g.65557839A>T | ExAC,gnomAD |
rs878854734 | p.Arg262Lys | missense variant | - | NC_000017.11:g.65557836C>T | - |
rs377293563 | p.Ser263Tyr | missense variant | - | NC_000017.11:g.65557833G>T | ESP,ExAC,gnomAD |
rs771809149 | p.Thr264Met | missense variant | - | NC_000017.11:g.65557830G>A | ExAC,gnomAD |
rs1064794876 | p.Thr264Ala | missense variant | - | NC_000017.11:g.65557831T>C | TOPMed |
NCI-TCGA novel | p.Glu265Lys | missense variant | - | NC_000017.11:g.65557828C>T | NCI-TCGA |
rs1555583178 | p.Thr266Ala | missense variant | - | NC_000017.11:g.65557825T>C | - |
rs878854735 | p.Val267Leu | missense variant | - | NC_000017.11:g.65557822C>G | TOPMed |
NCI-TCGA novel | p.Asp268Tyr | missense variant | - | NC_000017.11:g.65557819C>A | NCI-TCGA |
rs745659837 | p.Asp268Asn | missense variant | - | NC_000017.11:g.65557819C>T | ExAC,gnomAD |
rs1229801064 | p.Ser269Gly | missense variant | - | NC_000017.11:g.65557816T>C | gnomAD |
rs770848938 | p.Tyr271Ter | stop gained | - | NC_000017.11:g.65557808G>T | ExAC,gnomAD |
rs748265281 | p.Arg272Lys | missense variant | - | NC_000017.11:g.65557806C>T | ExAC,gnomAD |
NCI-TCGA novel | p.Arg272Trp | missense variant | - | NC_000017.11:g.65557807T>A | NCI-TCGA |
rs748265281 | p.Arg272Thr | missense variant | - | NC_000017.11:g.65557806C>G | ExAC,gnomAD |
COSM3521038 | p.Lys275Arg | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.65549652T>C | NCI-TCGA Cosmic |
rs1173628990 | p.Arg276Thr | missense variant | - | NC_000017.11:g.65549649C>G | gnomAD |
NCI-TCGA novel | p.Ser277ArgPheSerTerUnk | frameshift | - | NC_000017.11:g.65549646_65549647CT>- | NCI-TCGA |
rs763027598 | p.Ser277Asn | missense variant | - | NC_000017.11:g.65549646C>T | ExAC,gnomAD |
rs878854737 | p.Asp278Asn | missense variant | - | NC_000017.11:g.65549644C>T | TOPMed,gnomAD |
rs768915721 | p.Pro279Arg | missense variant | - | NC_000017.11:g.65549640G>C | ExAC,gnomAD |
rs768915721 | p.Pro279Leu | missense variant | - | NC_000017.11:g.65549640G>A | ExAC,gnomAD |
rs1214147932 | p.Val280Ile | missense variant | - | NC_000017.11:g.65549638C>T | gnomAD |
rs1489180181 | p.Val280Ala | missense variant | - | NC_000017.11:g.65549637A>G | TOPMed,gnomAD |
rs747107796 | p.Asn281Tyr | missense variant | - | NC_000017.11:g.65549635T>A | ExAC,TOPMed |
rs780143881 | p.Pro282Ser | missense variant | - | NC_000017.11:g.65549632G>A | ExAC,gnomAD |
rs772279739 | p.Pro282Leu | missense variant | - | NC_000017.11:g.65549631G>A | ExAC,gnomAD |
rs1309872479 | p.Tyr283Cys | missense variant | - | NC_000017.11:g.65549628T>C | gnomAD |
COSM3795973 | p.His284Tyr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.65549626G>A | NCI-TCGA Cosmic |
rs746239590 | p.Ile285Val | missense variant | - | NC_000017.11:g.65549623T>C | ExAC,gnomAD |
rs779294675 | p.Ile285Met | missense variant | - | NC_000017.11:g.65549621T>C | ExAC,gnomAD |
rs371327205 | p.Gly286Asp | missense variant | - | NC_000017.11:g.65549619C>T | ESP,ExAC,TOPMed,gnomAD |
rs754388559 | p.Gly288Ala | missense variant | - | NC_000017.11:g.65549613C>G | ExAC,TOPMed,gnomAD |
rs1060502148 | p.Tyr289Cys | missense variant | - | NC_000017.11:g.65549610T>C | - |
rs1361649860 | p.Val290Ile | missense variant | - | NC_000017.11:g.65549608C>T | gnomAD |
rs376949421 | p.Phe291Cys | missense variant | - | NC_000017.11:g.65549604A>C | ESP,ExAC,gnomAD |
NCI-TCGA novel | p.Ala292CysPheSerTerUnkUnk | frameshift | - | NC_000017.11:g.65549602_65549603insA | NCI-TCGA |
rs1360920012 | p.Ala292Pro | missense variant | - | NC_000017.11:g.65549602C>G | gnomAD |
rs1060502154 | p.Pro293Gln | missense variant | - | NC_000017.11:g.65549598G>T | - |
rs751143605 | p.Ala297Thr | missense variant | - | NC_000017.11:g.65549587C>T | ExAC,TOPMed,gnomAD |
rs139274803 | p.Asn298Ser | missense variant | - | NC_000017.11:g.65549583T>C | ESP,ExAC,TOPMed |
rs773351166 | p.Asp299Asn | missense variant | - | NC_000017.11:g.65549581C>T | ExAC,TOPMed,gnomAD |
rs1333766927 | p.Ser300Ile | missense variant | - | NC_000017.11:g.65549577C>A | TOPMed |
NCI-TCGA novel | p.Ser303IlePheSerTerUnk | frameshift | - | NC_000017.11:g.65549570_65549571insA | NCI-TCGA |
rs577812215 | p.Ser304Asn | missense variant | - | NC_000017.11:g.65549565C>T | 1000Genomes,ExAC,gnomAD |
rs577812215 | p.Ser304Ile | missense variant | - | NC_000017.11:g.65549565C>A | 1000Genomes,ExAC,gnomAD |
rs151247101 | p.Ala306Val | missense variant | - | NC_000017.11:g.65549559G>A | ESP,ExAC,TOPMed,gnomAD |
rs151247101 | p.Ala306Gly | missense variant | - | NC_000017.11:g.65549559G>C | ESP,ExAC,TOPMed,gnomAD |
rs1064795416 | p.Leu307Arg | missense variant | - | NC_000017.11:g.65549556A>C | - |
NCI-TCGA novel | p.Leu307Pro | missense variant | - | NC_000017.11:g.65549556A>G | NCI-TCGA |
rs779083840 | p.Thr308Met | missense variant | - | NC_000017.11:g.65549553G>A | ExAC,TOPMed,gnomAD |
rs1341462069 | p.Asp309Asn | missense variant | - | NC_000017.11:g.65549551C>T | gnomAD |
rs1394762778 | p.Met312Ile | missense variant | - | NC_000017.11:g.65549540C>T | gnomAD |
rs749646558 | p.Met312Val | missense variant | - | NC_000017.11:g.65549542T>C | ExAC,gnomAD |
rs1394762778 | p.Met312Ile | missense variant | - | NC_000017.11:g.65549540C>A | gnomAD |
NCI-TCGA novel | p.Met314Ile | missense variant | - | NC_000017.11:g.65549534C>T | NCI-TCGA |
rs945493883 | p.Met314Ile | missense variant | - | NC_000017.11:g.65549534C>A | TOPMed,gnomAD |
rs778252248 | p.Met314Val | missense variant | - | NC_000017.11:g.65549536T>C | ExAC,TOPMed,gnomAD |
rs747647668 | p.Thr315Arg | missense variant | - | NC_000017.11:g.65549532G>C | ExAC,TOPMed,gnomAD |
rs747647668 | p.Thr315Met | missense variant | - | NC_000017.11:g.65549532G>A | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Asp316His | missense variant | - | NC_000017.11:g.65549530C>G | NCI-TCGA |
rs1555581191 | p.Ser318Gly | missense variant | - | NC_000017.11:g.65549524T>C | - |
rs913060347 | p.Val319Ile | missense variant | - | NC_000017.11:g.65549521C>T | TOPMed,gnomAD |
rs1060502136 | p.Asp320His | missense variant | - | NC_000017.11:g.65541556C>G | - |
rs1462955225 | p.Asp320Val | missense variant | - | NC_000017.11:g.65541555T>A | TOPMed |
NCI-TCGA novel | p.Gly321Arg | missense variant | - | NC_000017.11:g.65541553C>T | NCI-TCGA |
rs202108391 | p.Pro324Leu | missense variant | - | NC_000017.11:g.65541543G>A | 1000Genomes,ExAC,gnomAD |
COSM4068783 | p.Pro324Ser | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.65541544G>A | NCI-TCGA Cosmic |
rs758075343 | p.Tyr325Asp | missense variant | - | NC_000017.11:g.65541541A>C | ExAC,TOPMed,gnomAD |
rs758075343 | p.Tyr325His | missense variant | - | NC_000017.11:g.65541541A>G | ExAC,TOPMed,gnomAD |
rs750274537 | p.Arg326His | missense variant | - | NC_000017.11:g.65541537C>T | ExAC,TOPMed,gnomAD |
rs201387209 | p.Arg326Cys | missense variant | - | NC_000017.11:g.65541538G>A | gnomAD |
rs372255441 | p.Val327Met | missense variant | - | NC_000017.11:g.65541535C>T | ESP,ExAC,TOPMed,gnomAD |
rs756978497 | p.Val327Ala | missense variant | - | NC_000017.11:g.65541534A>G | ExAC,gnomAD |
NCI-TCGA novel | p.Gly328Ser | missense variant | - | NC_000017.11:g.65541532C>T | NCI-TCGA |
rs774353403 | p.Ser329Asn | missense variant | - | NC_000017.11:g.65541528C>T | ExAC,TOPMed,gnomAD |
rs763931522 | p.Ser329Cys | missense variant | - | NC_000017.11:g.65541529T>A | ExAC,gnomAD |
rs774353403 | p.Ser329Thr | missense variant | - | NC_000017.11:g.65541528C>G | ExAC,TOPMed,gnomAD |
rs763931522 | p.Ser329Arg | missense variant | - | NC_000017.11:g.65541529T>G | ExAC,gnomAD |
rs766607261 | p.Lys330Glu | missense variant | - | NC_000017.11:g.65541526T>C | ExAC,TOPMed,gnomAD |
rs1431858462 | p.Lys331Arg | missense variant | - | NC_000017.11:g.65541522T>C | TOPMed |
rs763207034 | p.Gln332Arg | missense variant | - | NC_000017.11:g.65541519T>C | ExAC,gnomAD |
rs773403638 | p.Gln332His | missense variant | - | NC_000017.11:g.65541518C>A | ExAC,gnomAD |
rs1277969472 | p.Leu333Phe | missense variant | - | NC_000017.11:g.65541517G>A | TOPMed |
rs770254456 | p.Gln334Glu | missense variant | - | NC_000017.11:g.65541514G>C | ExAC,TOPMed,gnomAD |
rs1060502134 | p.Arg335Lys | missense variant | - | NC_000017.11:g.65541510C>T | - |
rs1418913084 | p.Met337Thr | missense variant | - | NC_000017.11:g.65541504A>G | gnomAD |
rs748459029 | p.His338Tyr | missense variant | - | NC_000017.11:g.65541502G>A | ExAC,gnomAD |
rs1060502160 | p.Arg339Gly | missense variant | - | NC_000017.11:g.65541499G>C | gnomAD |
rs1060502160 | p.Arg339Cys | missense variant | - | NC_000017.11:g.65541499G>A | gnomAD |
COSM279093 | p.Arg339His | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.65541498C>T | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Val341Leu | missense variant | - | NC_000017.11:g.65541493C>A | NCI-TCGA |
rs1555579332 | p.Lys342Met | missense variant | - | NC_000017.11:g.65541489T>A | - |
rs746540542 | p.Ala343Thr | missense variant | - | NC_000017.11:g.65541487C>T | ExAC,gnomAD |
rs878854715 | p.Asn344Ser | missense variant | - | NC_000017.11:g.65541483T>C | TOPMed,gnomAD |
rs779669781 | p.Ser348Cys | missense variant | - | NC_000017.11:g.65541471G>C | ExAC,TOPMed,gnomAD |
rs142726686 | p.Ser348Thr | missense variant | - | NC_000017.11:g.65541472A>T | ESP,TOPMed |
rs876661230 | p.Leu349Pro | missense variant | - | NC_000017.11:g.65541468A>G | - |
rs1447816369 | p.Leu349Ile | missense variant | - | NC_000017.11:g.65541469G>T | TOPMed |
rs1447816369 | p.Leu349Val | missense variant | - | NC_000017.11:g.65541469G>C | TOPMed |
COSM273540 | p.Leu349SerPheSerTerUnkUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.65541469_65541470insA | NCI-TCGA Cosmic |
rs1434576661 | p.Pro350Leu | missense variant | - | NC_000017.11:g.65541465G>A | gnomAD |
rs771677461 | p.Pro353Leu | missense variant | - | NC_000017.11:g.65541456G>A | ExAC,TOPMed,gnomAD |
rs906309952 | p.Arg354Lys | missense variant | - | NC_000017.11:g.65538342C>T | TOPMed |
NCI-TCGA novel | p.Arg354Ter | stop gained | - | NC_000017.11:g.65538343T>A | NCI-TCGA |
rs1555578556 | p.Thr355Ile | missense variant | - | NC_000017.11:g.65538339G>A | - |
rs755884266 | p.Arg357Cys | missense variant | - | NC_000017.11:g.65538334G>A | ExAC,TOPMed,gnomAD |
rs8081536 | p.Arg357His | missense variant | - | NC_000017.11:g.65538333C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1377592999 | p.Lys360Glu | missense variant | - | NC_000017.11:g.65538325T>C | TOPMed |
rs146249973 | p.Lys360Arg | missense variant | - | NC_000017.11:g.65538324T>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs750414544 | p.Met362Ile | missense variant | - | NC_000017.11:g.65538317C>A | ExAC,gnomAD |
rs761901627 | p.Val365Leu | missense variant | - | NC_000017.11:g.65538310C>G | ExAC,gnomAD |
rs761901627 | p.Val365Met | missense variant | - | NC_000017.11:g.65538310C>T | ExAC,gnomAD |
rs764414708 | p.Glu366Gly | missense variant | - | NC_000017.11:g.65538306T>C | ExAC,gnomAD |
rs1330131800 | p.Pro367His | missense variant | - | NC_000017.11:g.65538303G>T | gnomAD |
rs1480983759 | p.Ala368Gly | missense variant | - | NC_000017.11:g.65538300G>C | TOPMed,gnomAD |
rs772636882 | p.Ala368Thr | missense variant | - | NC_000017.11:g.65538301C>T | ExAC,gnomAD |
rs1480983759 | p.Ala368Val | missense variant | - | NC_000017.11:g.65538300G>A | TOPMed,gnomAD |
COSM6081720 | p.Ala368Pro | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.65538301C>G | NCI-TCGA Cosmic |
rs759128363 | p.Thr369Ala | missense variant | - | NC_000017.11:g.65538298T>C | ExAC,TOPMed,gnomAD |
rs759128363 | p.Thr369Pro | missense variant | - | NC_000017.11:g.65538298T>G | ExAC,TOPMed,gnomAD |
rs898166595 | p.Thr369Ile | missense variant | - | NC_000017.11:g.65538297G>A | TOPMed |
rs1555578525 | p.Ala371Thr | missense variant | - | NC_000017.11:g.65538292C>T | - |
rs748945736 | p.Ile375Met | missense variant | - | NC_000017.11:g.65538278G>C | ExAC,TOPMed,gnomAD |
rs770644676 | p.Ile375Thr | missense variant | - | NC_000017.11:g.65538279A>G | ExAC,gnomAD |
rs770644676 | p.Ile375Ser | missense variant | - | NC_000017.11:g.65538279A>C | ExAC,gnomAD |
rs772908702 | p.Ser376Trp | missense variant | - | NC_000017.11:g.65538276G>C | ExAC,TOPMed,gnomAD |
rs772908702 | p.Ser376Leu | missense variant | - | NC_000017.11:g.65538276G>A | ExAC,TOPMed,gnomAD |
rs1555578512 | p.Arg377Lys | missense variant | - | NC_000017.11:g.65538273C>T | - |
rs1555578508 | p.Leu378Val | missense variant | - | NC_000017.11:g.65538271G>C | - |
rs878854717 | p.Lys382Arg | missense variant | - | NC_000017.11:g.65538258T>C | - |
rs1555578490 | p.Glu384Gly | missense variant | - | NC_000017.11:g.65538252T>C | - |
NCI-TCGA novel | p.Glu386Ter | stop gained | - | NC_000017.11:g.65538247C>A | NCI-TCGA |
rs1173549577 | p.Glu386Gln | missense variant | - | NC_000017.11:g.65538247C>G | TOPMed |
rs368502813 | p.Arg388His | missense variant | - | NC_000017.11:g.65538240C>T | ESP,ExAC,TOPMed,gnomAD |
rs886053273 | p.Arg388Cys | missense variant | - | NC_000017.11:g.65538241G>A | - |
rs368502813 | p.Arg388Leu | missense variant | - | NC_000017.11:g.65538240C>A | ESP,ExAC,TOPMed,gnomAD |
rs1060502142 | p.His389Pro | missense variant | - | NC_000017.11:g.65538237T>G | gnomAD |
rs1060502142 | p.His389Arg | missense variant | - | NC_000017.11:g.65538237T>C | gnomAD |
rs139871607 | p.Ser390Gly | missense variant | - | NC_000017.11:g.65538235T>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs778900546 | p.Ser390Ile | missense variant | - | NC_000017.11:g.65538234C>A | ExAC,gnomAD |
rs778900546 | p.Ser390Asn | missense variant | - | NC_000017.11:g.65538234C>T | ExAC,gnomAD |
rs370821074 | p.Leu391Pro | missense variant | - | NC_000017.11:g.65538231A>G | ESP,ExAC |
rs1555578459 | p.Glu393Lys | missense variant | - | NC_000017.11:g.65538226C>T | - |
rs922684515 | p.Glu393Asp | missense variant | - | NC_000017.11:g.65538224C>G | TOPMed,gnomAD |
rs200899695 | p.Arg394His | missense variant | - | NC_000017.11:g.65538222C>T | ExAC,TOPMed,gnomAD |
rs753049092 | p.Arg394Cys | missense variant | - | NC_000017.11:g.65538223G>A | ExAC,gnomAD |
rs373087123 | p.Leu395Val | missense variant | - | NC_000017.11:g.65538220G>C | ESP,TOPMed,gnomAD |
rs1555578450 | p.Leu395Pro | missense variant | - | NC_000017.11:g.65538219A>G | - |
rs914102463 | p.Gln396Leu | missense variant | - | NC_000017.11:g.65538216T>A | TOPMed |
rs759917468 | p.Gln396Glu | missense variant | - | NC_000017.11:g.65538217G>C | ExAC,gnomAD |
rs774887154 | p.Gln397Arg | missense variant | - | NC_000017.11:g.65538213T>C | ExAC,gnomAD |
rs1360433499 | p.Gln397His | missense variant | - | NC_000017.11:g.65538212C>G | TOPMed,gnomAD |
rs1157452251 | p.Arg399Ter | stop gained | - | NC_000017.11:g.65538208G>A | gnomAD |
rs765865516 | p.Arg399Gln | missense variant | - | NC_000017.11:g.65538207C>T | ExAC,gnomAD |
rs989632217 | p.Glu400Gln | missense variant | - | NC_000017.11:g.65538205C>G | TOPMed,gnomAD |
rs762522074 | p.Glu400Gly | missense variant | - | NC_000017.11:g.65538204T>C | ExAC,TOPMed,gnomAD |
rs772221969 | p.Asp401Val | missense variant | - | NC_000017.11:g.65537834T>A | ExAC,gnomAD |
rs772221969 | p.Asp401Gly | missense variant | - | NC_000017.11:g.65537834T>C | ExAC,gnomAD |
rs1555578158 | p.Glu402Gly | missense variant | - | NC_000017.11:g.65537831T>C | - |
rs774657791 | p.Glu403Asp | missense variant | - | NC_000017.11:g.65537827C>A | ExAC,gnomAD |
rs774657791 | p.Glu403Asp | missense variant | - | NC_000017.11:g.65537827C>G | ExAC,gnomAD |
rs1196309364 | p.Glu403Lys | missense variant | - | NC_000017.11:g.65537829C>T | gnomAD |
rs1196309364 | p.Glu403Gln | missense variant | - | NC_000017.11:g.65537829C>G | gnomAD |
rs376701878 | p.Glu405Ala | missense variant | - | NC_000017.11:g.65537822T>G | ESP,ExAC,gnomAD |
rs771001164 | p.Glu405GlyPheSerTerUnkUnk | frameshift | - | NC_000017.11:g.65537821_65537822CT>- | NCI-TCGA,NCI-TCGA Cosmic |
rs1487575935 | p.Gly406Val | missense variant | - | NC_000017.11:g.65537819C>A | gnomAD |
NCI-TCGA novel | p.Gly406ArgPheSerTerUnkUnk | frameshift | - | NC_000017.11:g.65537820_65537821insCT | NCI-TCGA |
rs1205776646 | p.Ser407Ala | missense variant | - | NC_000017.11:g.65537817A>C | gnomAD |
rs1349969629 | p.Ser407Phe | missense variant | - | NC_000017.11:g.65537816G>A | TOPMed |
rs749846538 | p.Glu408Lys | missense variant | - | NC_000017.11:g.65537814C>T | ExAC,gnomAD |
rs1555578122 | p.Leu409Val | missense variant | - | NC_000017.11:g.65537811G>C | - |
NCI-TCGA novel | p.Leu409Ile | missense variant | - | NC_000017.11:g.65537811G>T | NCI-TCGA |
COSM3521037 | p.Leu409Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.65537811G>A | NCI-TCGA Cosmic |
rs1265240757 | p.Thr410Ala | missense variant | - | NC_000017.11:g.65537808T>C | TOPMed |
rs1555578117 | p.Thr410Ile | missense variant | - | NC_000017.11:g.65537807G>A | - |
rs115931022 | p.Asn412Ser | missense variant | - | NC_000017.11:g.65537801T>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs115931022 | p.Asn412Thr | missense variant | - | NC_000017.11:g.65537801T>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1399215718 | p.Ser413Leu | missense variant | - | NC_000017.11:g.65537798G>A | gnomAD |
rs758255310 | p.Arg414Leu | missense variant | - | NC_000017.11:g.65537795C>A | ExAC,TOPMed,gnomAD |
rs751229839 | p.Arg414Trp | missense variant | - | NC_000017.11:g.65537796G>A | ExAC,gnomAD |
rs758255310 | p.Arg414Gln | missense variant | - | NC_000017.11:g.65537795C>T | ExAC,TOPMed,gnomAD |
rs1170393408 | p.Glu415Gly | missense variant | - | NC_000017.11:g.65537792T>C | gnomAD |
rs1470769065 | p.Glu415Asp | missense variant | - | NC_000017.11:g.65537791C>A | gnomAD |
rs765015663 | p.Gly416Arg | missense variant | - | NC_000017.11:g.65537790C>G | ExAC,gnomAD |
rs1170381329 | p.Gly416Val | missense variant | - | NC_000017.11:g.65537789C>A | gnomAD |
rs1170381329 | p.Gly416Glu | missense variant | - | NC_000017.11:g.65537789C>T | gnomAD |
rs201460658 | p.Ala417Val | missense variant | - | NC_000017.11:g.65537786G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
COSM1385331 | p.Ala417ArgPheSerTerUnkUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.65537787C>- | NCI-TCGA Cosmic |
COSM5143807 | p.Pro418Ser | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.65537784G>A | NCI-TCGA Cosmic |
rs759790948 | p.Thr419Met | missense variant | - | NC_000017.11:g.65537780G>A | ExAC |
rs1555578074 | p.Gln420Glu | missense variant | - | NC_000017.11:g.65537778G>C | - |
rs774530969 | p.Gln420Pro | missense variant | - | NC_000017.11:g.65537777T>G | ExAC,gnomAD |
rs771340546 | p.Gln420His | missense variant | - | NC_000017.11:g.65537776C>A | ExAC,TOPMed,gnomAD |
rs774530969 | p.Gln420Arg | missense variant | - | NC_000017.11:g.65537777T>C | ExAC,gnomAD |
rs1441857871 | p.His421Tyr | missense variant | - | NC_000017.11:g.65537775G>A | TOPMed,gnomAD |
rs878854718 | p.Pro422Ser | missense variant | - | NC_000017.11:g.65537772G>A | TOPMed,gnomAD |
rs878854718 | p.Pro422Thr | missense variant | - | NC_000017.11:g.65537772G>T | TOPMed,gnomAD |
rs878854718 | p.Pro422Ala | missense variant | - | NC_000017.11:g.65537772G>C | TOPMed,gnomAD |
rs376630432 | p.Leu423Phe | missense variant | - | NC_000017.11:g.65537769G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs376630432 | p.Leu423Val | missense variant | - | NC_000017.11:g.65537769G>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs780894296 | p.Ser424Phe | missense variant | - | NC_000017.11:g.65537765G>A | ExAC |
rs878854719 | p.Leu425Pro | missense variant | - | NC_000017.11:g.65537762A>G | - |
rs1309062534 | p.Pro427Leu | missense variant | - | NC_000017.11:g.65537756G>A | TOPMed |
rs1426652719 | p.Ser428Cys | missense variant | - | NC_000017.11:g.65537753G>C | gnomAD |
rs573134328 | p.Ser428Pro | missense variant | - | NC_000017.11:g.65537754A>G | - |
rs773119996 | p.Gly429Ser | missense variant | - | NC_000017.11:g.65537751C>T | ExAC,TOPMed,gnomAD |
rs773119996 | p.Gly429Cys | missense variant | - | NC_000017.11:g.65537751C>A | ExAC,TOPMed,gnomAD |
rs202215840 | p.Ser430Thr | missense variant | - | NC_000017.11:g.65537747C>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs202215840 | p.Ser430Asn | missense variant | - | NC_000017.11:g.65537747C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs372987093 | p.Tyr431Asn | missense variant | - | NC_000017.11:g.65537745A>T | ESP,ExAC,TOPMed |
rs866813817 | p.Tyr431Cys | missense variant | - | NC_000017.11:g.65537744T>C | gnomAD |
rs751843834 | p.Glu432Lys | missense variant | - | NC_000017.11:g.65537742C>T | ExAC,TOPMed,gnomAD |
rs1472777958 | p.Glu433Val | missense variant | - | NC_000017.11:g.65537738T>A | TOPMed,gnomAD |
rs1168951676 | p.Glu433Gln | missense variant | - | NC_000017.11:g.65537739C>G | gnomAD |
NCI-TCGA novel | p.Pro435Leu | missense variant | - | NC_000017.11:g.65537732G>A | NCI-TCGA |
rs1451720453 | p.Pro435Ser | missense variant | - | NC_000017.11:g.65537733G>A | TOPMed |
rs1445382048 | p.Thr437Ser | missense variant | - | NC_000017.11:g.65537727T>A | gnomAD |
rs1555577991 | p.Asp441Asn | missense variant | - | NC_000017.11:g.65537715C>T | - |
rs1274892456 | p.Asp441Gly | missense variant | - | NC_000017.11:g.65537714T>C | gnomAD |
rs1363731706 | p.Leu447Phe | missense variant | - | NC_000017.11:g.65537697G>A | TOPMed |
rs1247527031 | p.Thr449Ser | missense variant | - | NC_000017.11:g.65537690G>C | gnomAD |
NCI-TCGA novel | p.Pro450His | missense variant | - | NC_000017.11:g.65537687G>T | NCI-TCGA |
rs777265234 | p.Pro450Leu | missense variant | - | NC_000017.11:g.65537687G>A | ExAC,gnomAD |
NCI-TCGA novel | p.Gly451Asp | missense variant | - | NC_000017.11:g.65537684C>T | NCI-TCGA |
rs768349653 | p.Gly451Ala | missense variant | - | NC_000017.11:g.65537684C>G | ExAC,gnomAD |
rs1439603213 | p.Gly451Ser | missense variant | - | NC_000017.11:g.65537685C>T | gnomAD |
rs779863826 | p.Pro455Ser | missense variant | - | NC_000017.11:g.65537673G>A | ExAC,TOPMed,gnomAD |
rs779863826 | p.Pro455Ala | missense variant | - | NC_000017.11:g.65537673G>C | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Pro455Leu | missense variant | - | NC_000017.11:g.65537672G>A | NCI-TCGA |
rs1060502144 | p.Gly456Ala | missense variant | - | NC_000017.11:g.65537669C>G | - |
rs1450569717 | p.Val457Ala | missense variant | - | NC_000017.11:g.65537666A>G | TOPMed |
rs778612433 | p.Val457Ile | missense variant | - | NC_000017.11:g.65537667C>T | ExAC,TOPMed,gnomAD |
rs753827256 | p.Gly458Cys | missense variant | - | NC_000017.11:g.65537664C>A | ExAC,gnomAD |
rs1233713623 | p.Gly458Asp | missense variant | - | NC_000017.11:g.65537663C>T | TOPMed,gnomAD |
rs777680532 | p.Arg459Gly | missense variant | - | NC_000017.11:g.65537661G>C | ExAC,gnomAD |
rs368525111 | p.Arg459Leu | missense variant | - | NC_000017.11:g.65537660C>A | ESP,ExAC,TOPMed,gnomAD |
rs368525111 | p.Arg459His | missense variant | - | NC_000017.11:g.65537660C>T | ESP,ExAC,TOPMed,gnomAD |
rs777680532 | p.Arg459Cys | missense variant | - | NC_000017.11:g.65537661G>A | ExAC,gnomAD |
rs368525111 | p.Arg459Pro | missense variant | - | NC_000017.11:g.65537660C>G | ESP,ExAC,TOPMed,gnomAD |
rs777680532 | p.Arg459Ser | missense variant | - | NC_000017.11:g.65537661G>T | ExAC,gnomAD |
rs1032366089 | p.Tyr460Cys | missense variant | - | NC_000017.11:g.65537657T>C | TOPMed,gnomAD |
rs1359477325 | p.Ser461Ile | missense variant | - | NC_000017.11:g.65537654C>A | gnomAD |
rs1555577922 | p.ProArg462ProCys | missense variant | - | NC_000017.11:g.65537649_65537650delinsAA | - |
rs1060502156 | p.Pro462Thr | missense variant | - | NC_000017.11:g.65537652G>T | TOPMed,gnomAD |
rs1060502156 | p.Pro462Ser | missense variant | - | NC_000017.11:g.65537652G>A | TOPMed,gnomAD |
rs758592586 | p.Pro462His | missense variant | - | NC_000017.11:g.65537651G>T | ExAC,gnomAD |
rs730881395 | p.Arg463Cys | missense variant | - | NC_000017.11:g.65537649G>A | ExAC,TOPMed,gnomAD |
rs1060502150 | p.Arg463Pro | missense variant | - | NC_000017.11:g.65537648C>G | TOPMed,gnomAD |
rs1060502150 | p.Arg463His | missense variant | - | NC_000017.11:g.65537648C>T | TOPMed,gnomAD |
rs730881395 | p.Arg463Gly | missense variant | - | NC_000017.11:g.65537649G>C | ExAC,TOPMed,gnomAD |
rs777283610 | p.Ser464Phe | missense variant | - | NC_000017.11:g.65537645G>A | ExAC,TOPMed,gnomAD |
rs762233852 | p.Ser464Pro | missense variant | - | NC_000017.11:g.65537646A>G | ExAC |
rs764640447 | p.Arg465His | missense variant | - | NC_000017.11:g.65537642C>T | ExAC,TOPMed,gnomAD |
rs886041137 | p.Arg465Ser | missense variant | - | NC_000017.11:g.65537643G>T | gnomAD |
rs886041137 | p.Arg465Cys | missense variant | - | NC_000017.11:g.65537643G>A | gnomAD |
rs764640447 | p.Arg465Leu | missense variant | - | NC_000017.11:g.65537642C>A | ExAC,TOPMed,gnomAD |
rs1064793954 | p.Ser466Cys | missense variant | - | NC_000017.11:g.65537639G>C | gnomAD |
rs1064793954 | p.Ser466Phe | missense variant | - | NC_000017.11:g.65537639G>A | gnomAD |
rs908388069 | p.Pro467Leu | missense variant | - | NC_000017.11:g.65537636G>A | TOPMed,gnomAD |
rs1477541377 | p.Asp468Asn | missense variant | - | NC_000017.11:g.65537634C>T | gnomAD |
rs1266538607 | p.His469Tyr | missense variant | - | NC_000017.11:g.65537631G>A | gnomAD |
rs745555433 | p.His469Arg | missense variant | - | NC_000017.11:g.65537630T>C | ExAC,gnomAD |
rs544255284 | p.His471Tyr | missense variant | - | NC_000017.11:g.65537625G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs749012756 | p.His472Arg | missense variant | - | NC_000017.11:g.65537621T>C | ExAC,gnomAD |
rs777699064 | p.His473Tyr | missense variant | - | NC_000017.11:g.65537619G>A | ExAC,gnomAD |
rs756008626 | p.His474Arg | missense variant | - | NC_000017.11:g.65537615T>C | ExAC,gnomAD |
rs1060502132 | p.His474Tyr | missense variant | - | NC_000017.11:g.65537616G>A | TOPMed,gnomAD |
rs950007141 | p.Ser475Trp | missense variant | - | NC_000017.11:g.65537612G>C | gnomAD |
NCI-TCGA novel | p.Ser475PhePheSerTerUnkUnkUnk | frameshift | - | NC_000017.11:g.65537612_65537613insA | NCI-TCGA |
rs950007141 | p.Ser475Leu | missense variant | - | NC_000017.11:g.65537612G>A | gnomAD |
NCI-TCGA novel | p.Gln476SerPheSerTerUnkUnk | frameshift | - | NC_000017.11:g.65537610_65537611insCTACT | NCI-TCGA |
rs1285545891 | p.Gln476His | missense variant | - | NC_000017.11:g.65537608C>G | TOPMed,gnomAD |
rs1555577851 | p.Tyr477His | missense variant | - | NC_000017.11:g.65537607A>G | - |
rs1405985775 | p.His478Arg | missense variant | - | NC_000017.11:g.65537603T>C | gnomAD |
rs137933764 | p.Ser479Tyr | missense variant | - | NC_000017.11:g.65537600G>T | ESP,ExAC,TOPMed,gnomAD |
rs1555577842 | p.Leu481Pro | missense variant | - | NC_000017.11:g.65537594A>G | - |
rs1345875693 | p.Leu481Phe | missense variant | - | NC_000017.11:g.65537595G>A | gnomAD |
rs758495825 | p.Pro482Leu | missense variant | - | NC_000017.11:g.65537591G>A | ExAC,TOPMed,gnomAD |
rs530465133 | p.Pro483His | missense variant | - | NC_000017.11:g.65537588G>T | 1000Genomes,TOPMed,gnomAD |
rs530465133 | p.Pro483Arg | missense variant | - | NC_000017.11:g.65537588G>C | 1000Genomes,TOPMed,gnomAD |
rs1555577827 | p.Pro483Ser | missense variant | - | NC_000017.11:g.65537589G>A | - |
rs371446806 | p.Gly484Ser | missense variant | - | NC_000017.11:g.65537586C>T | ESP,ExAC,TOPMed,gnomAD |
rs754204017 | p.Leu487Val | missense variant | - | NC_000017.11:g.65537577G>C | ExAC,TOPMed,gnomAD |
rs1555577817 | p.Leu487Gln | missense variant | - | NC_000017.11:g.65537576A>T | - |
rs764728243 | p.Pro489Ser | missense variant | - | NC_000017.11:g.65537571G>A | ExAC,gnomAD |
COSM3890203 | p.Pro489Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.65537570G>A | NCI-TCGA Cosmic |
rs1242238043 | p.Ala490Val | missense variant | - | NC_000017.11:g.65537567G>A | TOPMed,gnomAD |
rs1486551074 | p.Ala490Thr | missense variant | - | NC_000017.11:g.65537568C>T | TOPMed,gnomAD |
rs1064794048 | p.Ala491Val | missense variant | - | NC_000017.11:g.65537564G>A | - |
rs761303245 | p.Ala491Thr | missense variant | - | NC_000017.11:g.65537565C>T | ExAC,gnomAD |
rs1555577797 | p.Ala492Pro | missense variant | - | NC_000017.11:g.65537562C>G | - |
rs367697282 | p.Ser493Leu | missense variant | - | NC_000017.11:g.65537558G>A | ESP,ExAC,TOPMed,gnomAD |
rs367697282 | p.Ser493Trp | missense variant | - | NC_000017.11:g.65537558G>C | ESP,ExAC,TOPMed,gnomAD |
rs730881396 | p.Pro494Arg | missense variant | - | NC_000017.11:g.65537555G>C | ExAC,TOPMed,gnomAD |
rs730881396 | p.Pro494Leu | missense variant | - | NC_000017.11:g.65537555G>A | ExAC,TOPMed,gnomAD |
rs372513593 | p.Gly495Ser | missense variant | - | NC_000017.11:g.65537553C>T | - |
rs1408492605 | p.Ala496Asp | missense variant | - | NC_000017.11:g.65537549G>T | gnomAD |
rs773033390 | p.Ala496Thr | missense variant | - | NC_000017.11:g.65537550C>T | ExAC,gnomAD |
rs773033390 | p.Ala496Ser | missense variant | - | NC_000017.11:g.65537550C>A | ExAC,gnomAD |
rs769558841 | p.Cys497Tyr | missense variant | - | NC_000017.11:g.65537546C>T | ExAC |
rs1555577765 | p.Pro498Arg | missense variant | - | NC_000017.11:g.65537543G>C | - |
rs1279915902 | p.Pro498Ser | missense variant | - | NC_000017.11:g.65537544G>A | TOPMed |
rs1168199442 | p.Leu499Val | missense variant | - | NC_000017.11:g.65537541G>C | gnomAD |
rs781185996 | p.Leu499Pro | missense variant | - | NC_000017.11:g.65537540A>G | ExAC,gnomAD |
COSM1385329 | p.Leu499ProPheSerTerUnkUnkUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.65537540_65537541insG | NCI-TCGA Cosmic |
rs758413474 | p.Leu500Arg | missense variant | - | NC_000017.11:g.65537537A>C | ExAC,TOPMed,gnomAD |
rs779029020 | p.Gly501Val | missense variant | - | NC_000017.11:g.65537534C>A | ExAC,TOPMed,gnomAD |
rs779029020 | p.Gly501Glu | missense variant | - | NC_000017.11:g.65537534C>T | ExAC,TOPMed,gnomAD |
rs978541876 | p.Gly502Cys | missense variant | - | NC_000017.11:g.65537532C>A | - |
rs754079144 | p.Gly504Asp | missense variant | - | NC_000017.11:g.65537525C>T | ExAC,TOPMed,gnomAD |
rs757512425 | p.Gly504Arg | missense variant | - | NC_000017.11:g.65537526C>G | ExAC,TOPMed,gnomAD |
rs757512425 | p.Gly504Ser | missense variant | - | NC_000017.11:g.65537526C>T | ExAC,TOPMed,gnomAD |
rs1250017056 | p.Val506Met | missense variant | - | NC_000017.11:g.65537520C>T | gnomAD |
rs1207102247 | p.Thr507Ile | missense variant | - | NC_000017.11:g.65537516G>A | gnomAD |
rs778327226 | p.Gln509Arg | missense variant | - | NC_000017.11:g.65537510T>C | ExAC,gnomAD |
rs367938045 | p.Thr510Met | missense variant | - | NC_000017.11:g.65537507G>A | ESP,ExAC,gnomAD |
rs376936740 | p.Thr511Ser | missense variant | - | NC_000017.11:g.65537505T>A | ESP,ExAC,TOPMed,gnomAD |
rs376936740 | p.Thr511Ala | missense variant | - | NC_000017.11:g.65537505T>C | ESP,ExAC,TOPMed,gnomAD |
rs200883019 | p.Thr511Met | missense variant | - | NC_000017.11:g.65537504G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1235854145 | p.Lys512Asn | missense variant | - | NC_000017.11:g.65537500C>A | TOPMed |
rs1274418296 | p.His515Tyr | missense variant | - | NC_000017.11:g.65537493G>A | TOPMed,gnomAD |
rs864622657 | p.His516Arg | missense variant | - | NC_000017.11:g.65537489T>C | gnomAD |
rs864622657 | p.His516Pro | missense variant | - | NC_000017.11:g.65537489T>G | gnomAD |
rs1555577714 | p.His516Tyr | missense variant | - | NC_000017.11:g.65537490G>A | - |
rs769644525 | p.His517Leu | missense variant | - | NC_000017.11:g.65537486T>A | ExAC,gnomAD |
rs1209270565 | p.His517Tyr | missense variant | - | NC_000017.11:g.65537487G>A | TOPMed |
rs769644525 | p.His517Arg | missense variant | - | NC_000017.11:g.65537486T>C | ExAC,gnomAD |
rs368289818 | p.Tyr518Cys | missense variant | - | NC_000017.11:g.65537483T>C | ESP,ExAC,TOPMed,gnomAD |
rs761534462 | p.Tyr518Asn | missense variant | - | NC_000017.11:g.65537484A>T | ExAC,gnomAD |
rs146769008 | p.Ile519Leu | missense variant | - | NC_000017.11:g.65537481T>G | ESP,TOPMed,gnomAD |
rs146769008 | p.Ile519Val | missense variant | - | NC_000017.11:g.65537481T>C | ESP,TOPMed,gnomAD |
rs374444786 | p.Ile519Met | missense variant | - | NC_000017.11:g.65537479G>C | ESP,ExAC,TOPMed,gnomAD |
rs1060502128 | p.His522Asp | missense variant | - | NC_000017.11:g.65537472G>C | TOPMed |
rs1555577694 | p.Ala523Thr | missense variant | - | NC_000017.11:g.65537469C>T | - |
NCI-TCGA novel | p.Val524Asp | missense variant | - | NC_000017.11:g.65537465A>T | NCI-TCGA |
rs1333327285 | p.Val524Gly | missense variant | - | NC_000017.11:g.65537465A>C | gnomAD |
rs749576519 | p.Pro525Leu | missense variant | - | NC_000017.11:g.65537462G>A | ExAC,gnomAD |
rs73346297 | p.Pro525Ala | missense variant | - | NC_000017.11:g.65537463G>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs749576519 | p.Pro525Arg | missense variant | - | NC_000017.11:g.65537462G>C | ExAC,gnomAD |
rs778137043 | p.Lys526Arg | missense variant | - | NC_000017.11:g.65537459T>C | ExAC,gnomAD |
rs1555577678 | p.Lys526Asn | missense variant | - | NC_000017.11:g.65537458C>G | - |
rs1435184211 | p.Thr527Ile | missense variant | - | NC_000017.11:g.65537456G>A | TOPMed |
rs878854722 | p.Lys528Arg | missense variant | - | NC_000017.11:g.65537453T>C | gnomAD |
rs756551019 | p.Lys528Glu | missense variant | - | NC_000017.11:g.65537454T>C | ExAC,gnomAD |
rs1060502133 | p.Glu529Gly | missense variant | - | NC_000017.11:g.65537450T>C | - |
rs753046140 | p.Glu530Ala | missense variant | - | NC_000017.11:g.65537447T>G | ExAC,gnomAD |
rs755551294 | p.Glu532Lys | missense variant | - | NC_000017.11:g.65537442C>T | ExAC,gnomAD |
rs368522825 | p.Glu532Asp | missense variant | - | NC_000017.11:g.65537440C>G | gnomAD |
rs755551294 | p.Glu532Ter | stop gained | - | NC_000017.11:g.65537442C>A | ExAC,gnomAD |
rs147716924 | p.Ala533Val | missense variant | - | NC_000017.11:g.65537438G>A | ESP,ExAC,TOPMed,gnomAD |
rs1376819064 | p.Ala533Thr | missense variant | - | NC_000017.11:g.65537439C>T | TOPMed |
rs1392915734 | p.Ala535Thr | missense variant | - | NC_000017.11:g.65537433C>T | gnomAD |
rs1373860602 | p.Thr536Ser | missense variant | - | NC_000017.11:g.65537430T>A | gnomAD |
rs750084404 | p.Thr536Met | missense variant | - | NC_000017.11:g.65537429G>A | ExAC,gnomAD |
rs1428503249 | p.Gln537Glu | missense variant | - | NC_000017.11:g.65537427G>C | TOPMed |
rs761539571 | p.Arg538Trp | missense variant | - | NC_000017.11:g.65537424G>A | ExAC,gnomAD |
rs761539571 | p.Arg538Gly | missense variant | - | NC_000017.11:g.65537424G>C | ExAC,gnomAD |
rs1064793764 | p.Arg538Pro | missense variant | - | NC_000017.11:g.65537423C>G | TOPMed,gnomAD |
rs1064793764 | p.Arg538Gln | missense variant | - | NC_000017.11:g.65537423C>T | TOPMed,gnomAD |
rs9913621 | p.Val539Leu | missense variant | - | NC_000017.11:g.65537421C>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs9913621 | p.Val539Met | missense variant | - | NC_000017.11:g.65537421C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs573731155 | p.His540Asn | missense variant | - | NC_000017.11:g.65537418G>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1330822418 | p.His540Arg | missense variant | - | NC_000017.11:g.65537417T>C | TOPMed |
rs900138742 | p.His540Gln | missense variant | - | NC_000017.11:g.65537416G>C | TOPMed |
rs760712196 | p.Cys541Arg | missense variant | - | NC_000017.11:g.65537415A>G | ExAC,gnomAD |
rs771197210 | p.Phe542Val | missense variant | - | NC_000017.11:g.65537412A>C | ExAC,gnomAD |
rs749312775 | p.Cys543Tyr | missense variant | - | NC_000017.11:g.65537408C>T | ExAC,TOPMed,gnomAD |
rs749312775 | p.Cys543Phe | missense variant | - | NC_000017.11:g.65537408C>A | ExAC,TOPMed,gnomAD |
rs778153491 | p.Pro544Ser | missense variant | - | NC_000017.11:g.65537406G>A | ExAC,TOPMed,gnomAD |
rs1060502139 | p.Pro544Leu | missense variant | - | NC_000017.11:g.65537405G>A | TOPMed,gnomAD |
rs781658851 | p.Gly545Ala | missense variant | - | NC_000017.11:g.65537402C>G | ExAC,TOPMed,gnomAD |
rs148951121 | p.Gly545Trp | missense variant | - | NC_000017.11:g.65537403C>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs148951121 | p.Gly545Arg | missense variant | - | NC_000017.11:g.65537403C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs781658851 | p.Gly545Glu | missense variant | - | NC_000017.11:g.65537402C>T | ExAC,TOPMed,gnomAD |
rs145717795 | p.Gly546Asp | missense variant | - | NC_000017.11:g.65537399C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs145717795 | p.Gly546Val | missense variant | - | NC_000017.11:g.65537399C>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs780472818 | p.Gly546Ser | missense variant | - | NC_000017.11:g.65537400C>T | ExAC,gnomAD |
rs780472818 | p.Gly546Cys | missense variant | - | NC_000017.11:g.65537400C>A | ExAC,gnomAD |
rs764903794 | p.Ser547Asn | missense variant | - | NC_000017.11:g.65537396C>T | ExAC,gnomAD |
rs764903794 | p.Ser547Thr | missense variant | - | NC_000017.11:g.65537396C>G | ExAC,gnomAD |
rs753407346 | p.Glu548Gly | missense variant | - | NC_000017.11:g.65537393T>C | ExAC,gnomAD |
rs367624903 | p.Glu548Lys | missense variant | - | NC_000017.11:g.65537394C>T | ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Glu548AspPheSerTerUnkUnkUnk | frameshift | - | NC_000017.11:g.65537392C>- | NCI-TCGA |
rs367624903 | p.Glu548Ter | stop gained | - | NC_000017.11:g.65537394C>A | ESP,ExAC,TOPMed,gnomAD |
rs1369622684 | p.Tyr549Cys | missense variant | - | NC_000017.11:g.65537390T>C | TOPMed |
rs571713474 | p.Tyr550Asp | missense variant | - | NC_000017.11:g.65537388A>C | 1000Genomes,ExAC,gnomAD |
rs730881398 | p.Cys551Arg | missense variant | - | NC_000017.11:g.65537385A>G | ExAC,TOPMed,gnomAD |
rs1290240825 | p.Tyr552Cys | missense variant | - | NC_000017.11:g.65537381T>C | gnomAD |
rs1453965356 | p.Ser553Leu | missense variant | - | NC_000017.11:g.65537378G>A | TOPMed,gnomAD |
rs1453965356 | p.Ser553Trp | missense variant | - | NC_000017.11:g.65537378G>C | TOPMed,gnomAD |
rs1481627494 | p.Cys555Arg | missense variant | - | NC_000017.11:g.65537373A>G | gnomAD |
rs562421443 | p.Cys555Trp | missense variant | - | NC_000017.11:g.65537371G>C | ExAC,TOPMed,gnomAD |
rs1224506094 | p.Cys555Tyr | missense variant | - | NC_000017.11:g.65537372C>T | TOPMed,gnomAD |
rs1555577588 | p.His558Leu | missense variant | - | NC_000017.11:g.65537363T>A | - |
NCI-TCGA novel | p.Ser559Thr | missense variant | - | NC_000017.11:g.65537361A>T | NCI-TCGA |
rs1060502126 | p.Ser559Cys | missense variant | - | NC_000017.11:g.65537360G>C | gnomAD |
rs769741903 | p.Lys560Thr | missense variant | - | NC_000017.11:g.65537357T>G | ExAC,gnomAD |
rs1444558946 | p.Ala561Val | missense variant | - | NC_000017.11:g.65537354G>A | gnomAD |
rs1461001184 | p.Pro562Ser | missense variant | - | NC_000017.11:g.65537352G>A | TOPMed,gnomAD |
rs149764887 | p.Pro562Leu | missense variant | - | NC_000017.11:g.65537351G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs139414862 | p.Thr564Ala | missense variant | - | NC_000017.11:g.65537346T>C | ESP,ExAC,gnomAD |
rs534983760 | p.Met565Lys | missense variant | - | NC_000017.11:g.65537342A>T | 1000Genomes,ExAC,gnomAD |
rs534983760 | p.Met565Thr | missense variant | - | NC_000017.11:g.65537342A>G | 1000Genomes,ExAC,gnomAD |
rs886041138 | p.Met565Ile | missense variant | - | NC_000017.11:g.65537341C>T | TOPMed |
rs1297040678 | p.Phe570Ser | missense variant | - | NC_000017.11:g.65537327A>G | gnomAD |
rs373442399 | p.Phe570Val | missense variant | - | NC_000017.11:g.65537328A>C | ESP,ExAC,TOPMed,gnomAD |
rs146744662 | p.Gly571Asp | missense variant | - | NC_000017.11:g.65537324C>T | ESP,ExAC,TOPMed,gnomAD |
rs753824435 | p.Gly572Cys | missense variant | - | NC_000017.11:g.65537062C>A | ExAC,TOPMed,gnomAD |
rs753824435 | p.Gly572Ser | missense variant | - | NC_000017.11:g.65537062C>T | ExAC,TOPMed,gnomAD |
rs1165490589 | p.Ser573Asn | missense variant | - | NC_000017.11:g.65537058C>T | gnomAD |
rs1425391968 | p.Arg574Lys | missense variant | - | NC_000017.11:g.65537055C>T | gnomAD |
rs1425391968 | p.Arg574Thr | missense variant | - | NC_000017.11:g.65537055C>G | gnomAD |
rs764205632 | p.Ser576Asn | missense variant | - | NC_000017.11:g.65537049C>T | ExAC,gnomAD |
rs764205632 | p.Ser576Thr | missense variant | - | NC_000017.11:g.65537049C>G | ExAC,gnomAD |
rs760939811 | p.Thr577Ile | missense variant | - | NC_000017.11:g.65537046G>A | ExAC,gnomAD |
rs775673863 | p.Leu578Phe | missense variant | - | NC_000017.11:g.65537042C>A | ExAC,gnomAD |
rs1234437759 | p.Pro579Ser | missense variant | - | NC_000017.11:g.65537041G>A | gnomAD |
rs772490357 | p.Lys580Arg | missense variant | - | NC_000017.11:g.65537037T>C | ExAC,TOPMed,gnomAD |
rs759825875 | p.Arg581Cys | missense variant | - | NC_000017.11:g.65537035G>A | ExAC,gnomAD |
NCI-TCGA novel | p.Arg581ThrPheSerTerUnkUnk | frameshift | - | NC_000017.11:g.65537035_65537036insT | NCI-TCGA |
rs730881399 | p.Arg581His | missense variant | - | NC_000017.11:g.65537034C>T | gnomAD |
rs567511335 | p.Asn582Asp | missense variant | - | NC_000017.11:g.65537032T>C | ExAC,TOPMed,gnomAD |
rs567511335 | p.Asn582His | missense variant | - | NC_000017.11:g.65537032T>G | ExAC,TOPMed,gnomAD |
rs748860876 | p.Gly583Arg | missense variant | - | NC_000017.11:g.65537029C>T | ExAC,TOPMed,gnomAD |
rs777186938 | p.Gly583Glu | missense variant | - | NC_000017.11:g.65537028C>T | ExAC,gnomAD |
rs769404267 | p.Lys584Thr | missense variant | - | NC_000017.11:g.65537025T>G | ExAC,gnomAD |
rs747878470 | p.Thr586Ala | missense variant | - | NC_000017.11:g.65537020T>C | ExAC,gnomAD |
rs1344107562 | p.Glu587Gln | missense variant | - | NC_000017.11:g.65537017C>G | gnomAD |
rs1305562386 | p.Pro588Leu | missense variant | - | NC_000017.11:g.65537013G>A | gnomAD |
rs1316456738 | p.Leu590Gln | missense variant | - | NC_000017.11:g.65537007A>T | gnomAD |
rs1344737332 | p.Leu590Val | missense variant | - | NC_000017.11:g.65537008G>C | gnomAD |
rs1439853340 | p.Ala591Val | missense variant | - | NC_000017.11:g.65537004G>A | TOPMed |
rs754833574 | p.Ala591Ser | missense variant | - | NC_000017.11:g.65537005C>A | ExAC,TOPMed,gnomAD |
rs754833574 | p.Ala591Thr | missense variant | - | NC_000017.11:g.65537005C>T | ExAC,TOPMed,gnomAD |
rs1159551938 | p.Leu592Val | missense variant | - | NC_000017.11:g.65537002G>C | gnomAD |
rs876660965 | p.Ala594Thr | missense variant | - | NC_000017.11:g.65536996C>T | TOPMed,gnomAD |
rs1555577433 | p.Arg595Gly | missense variant | - | NC_000017.11:g.65536993T>C | - |
NCI-TCGA novel | p.Glu596Lys | missense variant | - | NC_000017.11:g.65536990C>T | NCI-TCGA |
rs1060502129 | p.Ala599Pro | missense variant | - | NC_000017.11:g.65536981C>G | - |
rs1478055553 | p.Ala599Asp | missense variant | - | NC_000017.11:g.65536980G>T | TOPMed,gnomAD |
rs1478055553 | p.Ala599Val | missense variant | - | NC_000017.11:g.65536980G>A | TOPMed,gnomAD |
COSM4747370 | p.Ala599ProPheSerTerUnkUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.65536981C>- | NCI-TCGA Cosmic |
rs1555577425 | p.Pro600Ser | missense variant | - | NC_000017.11:g.65536978G>A | - |
rs750354919 | p.Gly601Ser | missense variant | - | NC_000017.11:g.65536975C>T | ExAC,TOPMed,gnomAD |
rs750354919 | p.Gly601Cys | missense variant | - | NC_000017.11:g.65536975C>A | ExAC,TOPMed,gnomAD |
rs764140840 | p.Gly601Ala | missense variant | - | NC_000017.11:g.65536974C>G | ExAC,TOPMed,gnomAD |
rs752917795 | p.Gly602Val | missense variant | - | NC_000017.11:g.65536971C>A | ExAC,gnomAD |
rs1203434475 | p.Gly602Arg | missense variant | - | NC_000017.11:g.65536972C>T | gnomAD |
NCI-TCGA novel | p.Gly602Ter | stop gained | - | NC_000017.11:g.65536972C>A | NCI-TCGA |
rs145353986 | p.Ala603Pro | missense variant | - | NC_000017.11:g.65536969C>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1268443604 | p.Ala605Asp | missense variant | - | NC_000017.11:g.65536962G>T | gnomAD |
rs763417360 | p.Ala605Ser | missense variant | - | NC_000017.11:g.65536963C>A | ExAC,gnomAD |
rs763417360 | p.Ala605Thr | missense variant | - | NC_000017.11:g.65536963C>T | ExAC,gnomAD |
COSM4068781 | p.Ala605Val | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.65536962G>A | NCI-TCGA Cosmic |
rs1057522718 | p.Leu606Val | missense variant | - | NC_000017.11:g.65536960G>C | TOPMed |
rs1242108165 | p.Gln607His | missense variant | - | NC_000017.11:g.65536955C>G | TOPMed |
rs1389567952 | p.Pro609Ser | missense variant | - | NC_000017.11:g.65536951G>A | gnomAD |
rs370618491 | p.Pro609Leu | missense variant | - | NC_000017.11:g.65536950G>A | ESP,ExAC,TOPMed,gnomAD |
rs376248072 | p.Arg610Gln | missense variant | - | NC_000017.11:g.65536947C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs376248072 | p.Arg610Pro | missense variant | - | NC_000017.11:g.65536947C>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs776445861 | p.Arg610Trp | missense variant | - | NC_000017.11:g.65536948G>A | ExAC,gnomAD |
rs376248072 | p.Arg610Leu | missense variant | - | NC_000017.11:g.65536947C>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Glu611Lys | missense variant | - | NC_000017.11:g.65536945C>T | NCI-TCGA |
rs1163092585 | p.Gly613Arg | missense variant | - | NC_000017.11:g.65536939C>G | TOPMed |
rs373339394 | p.Asp614Glu | missense variant | - | NC_000017.11:g.65536934G>C | ESP,ExAC,TOPMed,gnomAD |
COSM3820278 | p.Asp614His | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.65536936C>G | NCI-TCGA Cosmic |
rs758202890 | p.Arg615Lys | missense variant | - | NC_000017.11:g.65536932C>T | ExAC |
rs1555577386 | p.Ser616Leu | missense variant | - | NC_000017.11:g.65536929G>A | - |
rs745857521 | p.Val619Ile | missense variant | - | NC_000017.11:g.65536921C>T | ExAC,gnomAD |
rs1476148267 | p.Val619Ala | missense variant | - | NC_000017.11:g.65536920A>G | gnomAD |
rs1476148267 | p.Val619Gly | missense variant | - | NC_000017.11:g.65536920A>C | gnomAD |
rs752721451 | p.Met623Thr | missense variant | - | NC_000017.11:g.65536908A>G | ExAC,TOPMed,gnomAD |
rs1460236827 | p.Glu625Ala | missense variant | - | NC_000017.11:g.65536902T>G | gnomAD |
rs767756290 | p.Ser626Arg | missense variant | - | NC_000017.11:g.65536898A>T | ExAC,TOPMed,gnomAD |
rs200201811 | p.Arg628Trp | missense variant | - | NC_000017.11:g.65536894G>A | ESP,ExAC,TOPMed,gnomAD |
rs751781253 | p.Gln629Arg | missense variant | - | NC_000017.11:g.65536890T>C | ExAC,TOPMed,gnomAD |
rs763312277 | p.Ser630Gly | missense variant | - | NC_000017.11:g.65536888T>C | ExAC,gnomAD |
rs578156841 | p.Ser630Asn | missense variant | - | NC_000017.11:g.65536887C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs761440645 | p.Lys631Asn | missense variant | - | NC_000017.11:g.65536883C>G | ExAC,gnomAD |
rs139945372 | p.Lys631Thr | missense variant | - | NC_000017.11:g.65536884T>G | ESP,ExAC,TOPMed |
rs1555577360 | p.Lys631Glu | missense variant | - | NC_000017.11:g.65536885T>C | - |
rs150557228 | p.Lys633Asn | missense variant | - | NC_000017.11:g.65536877C>A | ESP,ExAC,gnomAD |
NCI-TCGA novel | p.Lys633Met | missense variant | - | NC_000017.11:g.65536878T>A | NCI-TCGA |
rs373042042 | p.Pro634Leu | missense variant | - | NC_000017.11:g.65536875G>A | ESP,ExAC,TOPMed,gnomAD |
rs141699123 | p.Pro634Thr | missense variant | - | NC_000017.11:g.65536876G>T | ESP,ExAC,TOPMed,gnomAD |
rs373042042 | p.Pro634Arg | missense variant | - | NC_000017.11:g.65536875G>C | ESP,ExAC,TOPMed,gnomAD |
rs141699123 | p.Pro634Ser | missense variant | - | NC_000017.11:g.65536876G>A | ESP,ExAC,TOPMed,gnomAD |
rs775207779 | p.His635Arg | missense variant | - | NC_000017.11:g.65536872T>C | ExAC,TOPMed,gnomAD |
rs745616808 | p.Ser636Gly | missense variant | - | NC_000017.11:g.65536870T>C | ExAC,TOPMed,gnomAD |
rs1329676241 | p.Ala637Thr | missense variant | - | NC_000017.11:g.65536552C>T | gnomAD |
NCI-TCGA novel | p.Gln638Ter | stop gained | - | NC_000017.11:g.65536549G>A | NCI-TCGA |
rs968390172 | p.Ser639Asn | missense variant | - | NC_000017.11:g.65536545C>T | TOPMed |
rs1332790715 | p.Thr640Ile | missense variant | - | NC_000017.11:g.65536542G>A | gnomAD |
rs1060502157 | p.Thr640Pro | missense variant | - | NC_000017.11:g.65536543T>G | gnomAD |
rs748005374 | p.Ala643Pro | missense variant | - | NC_000017.11:g.65536534C>G | ExAC,TOPMed,gnomAD |
rs748005374 | p.Ala643Ser | missense variant | - | NC_000017.11:g.65536534C>A | ExAC,TOPMed,gnomAD |
rs1025003994 | p.Tyr644Ser | missense variant | - | NC_000017.11:g.65536530T>G | TOPMed,gnomAD |
rs1025003994 | p.Tyr644Cys | missense variant | - | NC_000017.11:g.65536530T>C | TOPMed,gnomAD |
rs1405864888 | p.Pro645Ser | missense variant | - | NC_000017.11:g.65536528G>A | gnomAD |
rs730881405 | p.Pro645Leu | missense variant | - | NC_000017.11:g.65536527G>A | ExAC,gnomAD |
rs376550544 | p.Glu647Gly | missense variant | - | NC_000017.11:g.65536521T>C | ESP,ExAC,gnomAD |
rs779214199 | p.Ser648Cys | missense variant | - | NC_000017.11:g.65536518G>C | ExAC,gnomAD |
rs1307386989 | p.Ala649Val | missense variant | - | NC_000017.11:g.65536515G>A | TOPMed |
rs148419444 | p.Arg650Cys | missense variant | - | NC_000017.11:g.65536513G>A | ESP,ExAC,TOPMed,gnomAD |
rs199719878 | p.Arg650His | missense variant | - | NC_000017.11:g.65536512C>T | ExAC,gnomAD |
rs74006838 | p.Ser651Leu | missense variant | - | NC_000017.11:g.65536509G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs74006838 | p.Ser651Trp | missense variant | - | NC_000017.11:g.65536509G>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs917901663 | p.Ser652Pro | missense variant | - | NC_000017.11:g.65536507A>G | gnomAD |
rs767111161 | p.Glu655Lys | missense variant | - | NC_000017.11:g.65536498C>T | ExAC,TOPMed,gnomAD |
rs1555577180 | p.Arg656Gln | missense variant | - | NC_000017.11:g.65536494C>T | - |
rs121908568 | p.Arg656Ter | stop gained | Oligodontia-colorectal cancer syndrome (odcrcs) | NC_000017.11:g.65536495G>A | - |
rs1254934681 | p.Ala657Thr | missense variant | - | NC_000017.11:g.65536492C>T | TOPMed |
rs751216221 | p.Ser658Arg | missense variant | - | NC_000017.11:g.65536487G>C | ExAC,gnomAD |
rs142670753 | p.Arg659Trp | missense variant | - | NC_000017.11:g.65536486G>A | ESP,ExAC,TOPMed,gnomAD |
rs730881400 | p.Arg659Gln | missense variant | - | NC_000017.11:g.65536485C>T | ExAC,TOPMed,gnomAD |
rs142476324 | p.Leu662Pro | missense variant | - | NC_000017.11:g.65536476A>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Leu662Met | missense variant | - | NC_000017.11:g.65536477G>T | NCI-TCGA |
rs979932202 | p.Leu662Val | missense variant | - | NC_000017.11:g.65536477G>C | TOPMed |
rs730882193 | p.Trp663Ter | stop gained | Oligodontia-colorectal cancer syndrome (odcrcs) | NC_000017.11:g.65536472C>T | - |
rs761870581 | p.Trp663Ser | missense variant | - | NC_000017.11:g.65536473C>G | ExAC,gnomAD |
rs770763142 | p.Trp663Arg | missense variant | - | NC_000017.11:g.65536474A>G | ExAC,TOPMed,gnomAD |
rs770763142 | p.Trp663Gly | missense variant | - | NC_000017.11:g.65536474A>C | ExAC,TOPMed,gnomAD |
rs761870581 | p.Trp663Leu | missense variant | - | NC_000017.11:g.65536473C>A | ExAC,gnomAD |
rs1398162976 | p.Gly664Val | missense variant | - | NC_000017.11:g.65536470C>A | gnomAD |
rs772202125 | p.Gly665Asp | missense variant | - | NC_000017.11:g.65536467C>T | ExAC,gnomAD |
rs267606674 | p.Gly665AlaPheSerTerUnkUnk | frameshift | - | NC_000017.11:g.65536467C>- | NCI-TCGA,NCI-TCGA Cosmic |
NCI-TCGA novel | p.Asn666AlaPheSerTerUnkUnk | frameshift | - | NC_000017.11:g.65536466_65536467insCC | NCI-TCGA |
rs1460508423 | p.Asn666Lys | missense variant | - | NC_000017.11:g.65536463G>T | gnomAD |
rs747355609 | p.Asn666GlnPheSerTerUnkUnk | frameshift | - | NC_000017.11:g.65536466_65536467insC | NCI-TCGA,NCI-TCGA Cosmic |
rs878854724 | p.Ser667Asn | missense variant | - | NC_000017.11:g.65536461C>T | gnomAD |
rs774732785 | p.Gly668Arg | missense variant | - | NC_000017.11:g.65536459C>T | ExAC,gnomAD |
rs756419208 | p.His669Gln | missense variant | - | NC_000017.11:g.65536454G>C | ExAC,TOPMed,gnomAD |
rs756419208 | p.His669Gln | missense variant | - | NC_000017.11:g.65536454G>T | ExAC,TOPMed,gnomAD |
rs749487037 | p.His669Tyr | missense variant | - | NC_000017.11:g.65536456G>A | ExAC,gnomAD |
rs748754551 | p.Pro670Arg | missense variant | - | NC_000017.11:g.65536452G>C | ExAC,TOPMed,gnomAD |
rs748754551 | p.Pro670Leu | missense variant | - | NC_000017.11:g.65536452G>A | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Arg671AlaPheSerTerUnkUnk | frameshift | - | NC_000017.11:g.65536450G>- | NCI-TCGA |
rs765845684 | p.Arg671Pro | missense variant | - | NC_000017.11:g.65536449C>G | ExAC,TOPMed,gnomAD |
rs754506970 | p.Arg671Cys | missense variant | - | NC_000017.11:g.65536450G>A | ExAC,TOPMed,gnomAD |
rs765845684 | p.Arg671His | missense variant | - | NC_000017.11:g.65536449C>T | ExAC,TOPMed,gnomAD |
rs1421895371 | p.Thr672Ala | missense variant | - | NC_000017.11:g.65536447T>C | TOPMed,gnomAD |
rs1060502141 | p.Thr672Ile | missense variant | - | NC_000017.11:g.65536446G>A | gnomAD |
rs576688801 | p.Thr673Asn | missense variant | - | NC_000017.11:g.65536443G>T | 1000Genomes,ExAC,gnomAD |
NCI-TCGA novel | p.Thr673Ser | missense variant | - | NC_000017.11:g.65536444T>A | NCI-TCGA |
rs576688801 | p.Thr673Ile | missense variant | - | NC_000017.11:g.65536443G>A | 1000Genomes,ExAC,gnomAD |
rs1341498392 | p.Pro674Leu | missense variant | - | NC_000017.11:g.65536440G>A | TOPMed,gnomAD |
rs765149006 | p.Arg675Gly | missense variant | - | NC_000017.11:g.65536438G>C | ExAC,gnomAD |
rs730881401 | p.Arg675Leu | missense variant | - | NC_000017.11:g.65536437C>A | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Arg675ProPheSerTerUnkUnk | frameshift | - | NC_000017.11:g.65536437_65536438insG | NCI-TCGA |
rs765149006 | p.Arg675Cys | missense variant | - | NC_000017.11:g.65536438G>A | ExAC,gnomAD |
rs765149006 | p.Arg675Ser | missense variant | - | NC_000017.11:g.65536438G>T | ExAC,gnomAD |
rs730881401 | p.Arg675His | missense variant | - | NC_000017.11:g.65536437C>T | ExAC,TOPMed,gnomAD |
rs1424100499 | p.Ala676Thr | missense variant | - | NC_000017.11:g.65536435C>T | gnomAD |
rs1555577104 | p.His677Gln | missense variant | - | NC_000017.11:g.65536430G>T | - |
rs1555577107 | p.His677Arg | missense variant | - | NC_000017.11:g.65536431T>C | - |
rs368798367 | p.Leu678Gln | missense variant | - | NC_000017.11:g.65536428A>T | ESP,ExAC,TOPMed,gnomAD |
rs368798367 | p.Leu678Pro | missense variant | - | NC_000017.11:g.65536428A>G | ESP,ExAC,TOPMed,gnomAD |
rs1165276318 | p.Phe679Leu | missense variant | - | NC_000017.11:g.65536424G>C | gnomAD |
rs1255307307 | p.Thr680Ala | missense variant | - | NC_000017.11:g.65536423T>C | TOPMed |
NCI-TCGA novel | p.Gln681His | missense variant | - | NC_000017.11:g.65536418C>A | NCI-TCGA |
rs911977110 | p.Gln681Glu | missense variant | - | NC_000017.11:g.65536420G>C | TOPMed,gnomAD |
rs1555577097 | p.Asp682Tyr | missense variant | - | NC_000017.11:g.65536417C>A | - |
rs1555577092 | p.Pro683Leu | missense variant | - | NC_000017.11:g.65536413G>A | - |
rs138287857 | p.Ala684Val | missense variant | - | NC_000017.11:g.65536410G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1393284650 | p.Ala684Thr | missense variant | - | NC_000017.11:g.65536411C>T | TOPMed |
rs1047911557 | p.Met685Ile | missense variant | - | NC_000017.11:g.65536406C>T | - |
rs111650787 | p.Met685Val | missense variant | - | NC_000017.11:g.65536408T>C | ExAC,TOPMed,gnomAD |
rs771109399 | p.Pro687Leu | missense variant | - | NC_000017.11:g.65536401G>A | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Leu688ProPheSerTerUnkUnk | frameshift | - | NC_000017.11:g.65536398_65536399insG | NCI-TCGA |
COSM193302 | p.Leu688Ter | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.65536399G>- | NCI-TCGA Cosmic |
rs367725839 | p.Thr689Ser | missense variant | - | NC_000017.11:g.65536395G>C | ESP,ExAC,gnomAD |
rs1229715038 | p.Thr689Ala | missense variant | - | NC_000017.11:g.65536396T>C | gnomAD |
rs770199204 | p.Pro690Ser | missense variant | - | NC_000017.11:g.65536393G>A | ExAC,gnomAD |
rs1352792335 | p.Pro691Ser | missense variant | - | NC_000017.11:g.65536390G>A | gnomAD |
rs1555577070 | p.Asn692Ser | missense variant | - | NC_000017.11:g.65536386T>C | - |
rs755519590 | p.Thr693Met | missense variant | - | NC_000017.11:g.65536383G>A | ExAC,gnomAD |
rs1325648219 | p.Leu694Met | missense variant | - | NC_000017.11:g.65536381G>T | gnomAD |
rs140510381 | p.Ala695Ser | missense variant | - | NC_000017.11:g.65536378C>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
COSM983025 | p.Ala695Val | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.65536377G>A | NCI-TCGA Cosmic |
rs778376993 | p.Gln696Arg | missense variant | - | NC_000017.11:g.65536374T>C | ExAC,TOPMed,gnomAD |
COSM1303211 | p.Gln696Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.65536375G>A | NCI-TCGA Cosmic |
rs1214718312 | p.Glu698Val | missense variant | - | NC_000017.11:g.65536368T>A | TOPMed |
rs1414074583 | p.Ala700Asp | missense variant | - | NC_000017.11:g.65536362G>T | gnomAD |
rs1060502130 | p.Cys701Phe | missense variant | - | NC_000017.11:g.65536359C>A | gnomAD |
rs1060502130 | p.Cys701Tyr | missense variant | - | NC_000017.11:g.65536359C>T | gnomAD |
rs1060502130 | p.Cys701Ser | missense variant | - | NC_000017.11:g.65536359C>G | gnomAD |
rs1244431726 | p.Arg702Ser | missense variant | - | NC_000017.11:g.65536357G>T | gnomAD |
rs1244431726 | p.Arg702Cys | missense variant | - | NC_000017.11:g.65536357G>A | gnomAD |
rs757100957 | p.Arg702His | missense variant | - | NC_000017.11:g.65536356C>T | ExAC,gnomAD |
rs757100957 | p.Arg702Leu | missense variant | - | NC_000017.11:g.65536356C>A | ExAC,gnomAD |
rs565565172 | p.Arg703Lys | missense variant | - | NC_000017.11:g.65536353C>T | 1000Genomes |
rs121908567 | p.Glu706Lys | missense variant | - | NC_000017.11:g.65536345C>T | gnomAD |
rs121908567 | p.Glu706Ter | stop gained | - | NC_000017.11:g.65536345C>A | gnomAD |
rs587780123 | p.Ser708Leu | missense variant | - | NC_000017.11:g.65536338G>A | TOPMed,gnomAD |
rs752664902 | p.Gln713His | missense variant | - | NC_000017.11:g.65536322C>A | ExAC,gnomAD |
rs762872515 | p.Arg714Gln | missense variant | - | NC_000017.11:g.65536320C>T | ExAC,TOPMed,gnomAD |
rs148765149 | p.Arg714Trp | missense variant | - | NC_000017.11:g.65536321G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs767503380 | p.Val717Ala | missense variant | - | NC_000017.11:g.65535713A>G | ExAC,gnomAD |
rs1211491592 | p.Ala718Ser | missense variant | - | NC_000017.11:g.65535711C>A | gnomAD |
rs1060502147 | p.Gln720Arg | missense variant | - | NC_000017.11:g.65535704T>C | - |
rs1230715098 | p.Arg724Gly | missense variant | - | NC_000017.11:g.65535693T>C | TOPMed,gnomAD |
rs533243256 | p.Asn725Ile | missense variant | - | NC_000017.11:g.65535689T>A | 1000Genomes,ExAC,gnomAD |
rs533243256 | p.Asn725Ser | missense variant | - | NC_000017.11:g.65535689T>C | 1000Genomes,ExAC,gnomAD |
rs1064795595 | p.Ser727Pro | missense variant | - | NC_000017.11:g.65535684A>G | - |
rs200460573 | p.Ser727Leu | missense variant | - | NC_000017.11:g.65535683G>A | TOPMed,gnomAD |
rs762001576 | p.Ala728Gly | missense variant | - | NC_000017.11:g.65535680G>C | ExAC |
rs141260153 | p.Ala728Thr | missense variant | - | NC_000017.11:g.65535681C>T | ESP,ExAC,TOPMed,gnomAD |
rs769016231 | p.Thr729Ala | missense variant | - | NC_000017.11:g.65535678T>C | ExAC,gnomAD |
rs776003231 | p.Val730Leu | missense variant | - | NC_000017.11:g.65535675C>G | ExAC,gnomAD |
NCI-TCGA novel | p.Gln731His | missense variant | - | NC_000017.11:g.65535670C>A | NCI-TCGA |
rs373911689 | p.Thr732Met | missense variant | - | NC_000017.11:g.65535668G>A | ESP,ExAC,TOPMed,gnomAD |
rs1390389867 | p.Ala734Thr | missense variant | - | NC_000017.11:g.65535663C>T | gnomAD |
rs1163700628 | p.Thr735Ala | missense variant | - | NC_000017.11:g.65535660T>C | gnomAD |
rs746350974 | p.Thr735Ile | missense variant | - | NC_000017.11:g.65535659G>A | ExAC |
rs778332146 | p.Pro736Leu | missense variant | - | NC_000017.11:g.65535656G>A | ExAC,gnomAD |
rs951676348 | p.Pro736Ser | missense variant | - | NC_000017.11:g.65535657G>A | TOPMed,gnomAD |
rs951676348 | p.Pro736Thr | missense variant | - | NC_000017.11:g.65535657G>T | TOPMed,gnomAD |
rs139209450 | p.Ser738Phe | missense variant | - | NC_000017.11:g.65535650G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs547630327 | p.Asn739Ser | missense variant | - | NC_000017.11:g.65535647T>C | 1000Genomes,ExAC,TOPMed,gnomAD |
rs547630327 | p.Asn739Ile | missense variant | - | NC_000017.11:g.65535647T>A | 1000Genomes,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Pro740Leu | missense variant | - | NC_000017.11:g.65535644G>A | NCI-TCGA |
rs370503213 | p.Pro740Ser | missense variant | - | NC_000017.11:g.65535645G>A | ESP,ExAC,TOPMed,gnomAD |
rs747903181 | p.Pro740Arg | missense variant | - | NC_000017.11:g.65535644G>C | ExAC,TOPMed,gnomAD |
rs781309325 | p.Ser741Asn | missense variant | - | NC_000017.11:g.65535641C>T | ExAC,TOPMed,gnomAD |
rs1291289398 | p.Ser741Gly | missense variant | - | NC_000017.11:g.65535642T>C | gnomAD |
rs969592225 | p.Ala743Val | missense variant | - | NC_000017.11:g.65535635G>A | - |
rs1228679390 | p.Pro744Leu | missense variant | - | NC_000017.11:g.65535632G>A | gnomAD |
rs1314547209 | p.Pro744Ser | missense variant | - | NC_000017.11:g.65535633G>A | gnomAD |
rs183475174 | p.Asp746Asn | missense variant | - | NC_000017.11:g.65535627C>T | 1000Genomes |
rs143571197 | p.His747Tyr | missense variant | - | NC_000017.11:g.65534078G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs62640031 | p.His747Arg | missense variant | - | NC_000017.11:g.65534077T>C | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Lys748Ile | missense variant | - | NC_000017.11:g.65534074T>A | NCI-TCGA |
NCI-TCGA novel | p.Glu749ArgPheSerTerUnkUnk | frameshift | - | NC_000017.11:g.65534072_65534073insT | NCI-TCGA |
rs772888193 | p.Pro750Leu | missense variant | - | NC_000017.11:g.65534068G>A | ExAC,TOPMed,gnomAD |
rs1236306797 | p.Pro750Ser | missense variant | - | NC_000017.11:g.65534069G>A | TOPMed,gnomAD |
rs776281840 | p.Lys751Asn | missense variant | - | NC_000017.11:g.65534064C>G | ExAC,gnomAD |
rs776281840 | p.Lys751Asn | missense variant | - | NC_000017.11:g.65534064C>A | ExAC,gnomAD |
rs768352721 | p.Leu753Arg | missense variant | - | NC_000017.11:g.65534059A>C | ExAC,gnomAD |
rs746773698 | p.Ala754Val | missense variant | - | NC_000017.11:g.65534056G>A | ExAC,TOPMed,gnomAD |
rs981540341 | p.Gly755Ala | missense variant | - | NC_000017.11:g.65534053C>G | TOPMed |
rs981540341 | p.Gly755Val | missense variant | - | NC_000017.11:g.65534053C>A | TOPMed |
rs1060502140 | p.Val756Ile | missense variant | - | NC_000017.11:g.65534051C>T | TOPMed |
rs772041910 | p.His757Gln | missense variant | - | NC_000017.11:g.65534046G>C | ExAC,TOPMed,gnomAD |
rs145007501 | p.Ala758Thr | missense variant | - | NC_000017.11:g.65534045C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs777885192 | p.Ala758Val | missense variant | - | NC_000017.11:g.65534044G>A | ExAC,TOPMed,gnomAD |
rs1060502135 | p.Leu759Arg | missense variant | - | NC_000017.11:g.65534041A>C | gnomAD |
rs1060502135 | p.Leu759His | missense variant | - | NC_000017.11:g.65534041A>T | gnomAD |
rs752865337 | p.Gln760Ter | stop gained | - | NC_000017.11:g.65534039G>A | ExAC,gnomAD |
rs79732150 | p.Ala761Asp | missense variant | - | NC_000017.11:g.65534035G>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1024751792 | p.Ala761Thr | missense variant | - | NC_000017.11:g.65534036C>T | TOPMed,gnomAD |
rs117688560 | p.Ser762Ile | missense variant | - | NC_000017.11:g.65534032C>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs117688560 | p.Ser762Asn | missense variant | - | NC_000017.11:g.65534032C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs755320218 | p.Ser762Gly | missense variant | - | NC_000017.11:g.65534033T>C | ExAC,gnomAD |
rs763613779 | p.Thr767Asn | missense variant | - | NC_000017.11:g.65534017G>T | ExAC,gnomAD |
rs750962952 | p.Tyr768His | missense variant | - | NC_000017.11:g.65534015A>G | ExAC,gnomAD |
rs764845153 | p.Tyr768Phe | missense variant | - | NC_000017.11:g.65534014T>A | ExAC,gnomAD |
rs1555576387 | p.Phe770Leu | missense variant | - | NC_000017.11:g.65534009A>G | - |
rs150734114 | p.Ile775Phe | missense variant | - | NC_000017.11:g.65533994T>A | ExAC,TOPMed,gnomAD |
rs1555576382 | p.Ile775Thr | missense variant | - | NC_000017.11:g.65533993A>G | - |
rs1064793454 | p.Pro776Ser | missense variant | - | NC_000017.11:g.65533991G>A | - |
rs1398258340 | p.Arg778Trp | missense variant | - | NC_000017.11:g.65533985G>A | gnomAD |
rs1555576374 | p.Arg778Gln | missense variant | - | NC_000017.11:g.65533984C>T | - |
rs1555576371 | p.Met780Ile | missense variant | - | NC_000017.11:g.65533977C>T | - |
rs760217787 | p.Ala783Ser | missense variant | - | NC_000017.11:g.65533970C>A | ExAC,TOPMed,gnomAD |
rs1484466355 | p.Ala783Gly | missense variant | - | NC_000017.11:g.65533969G>C | TOPMed |
NCI-TCGA novel | p.Thr787Asn | missense variant | - | NC_000017.11:g.65533957G>T | NCI-TCGA |
rs1060502138 | p.Gly789Ala | missense variant | - | NC_000017.11:g.65533951C>G | gnomAD |
rs1475599007 | p.His790Tyr | missense variant | - | NC_000017.11:g.65533949G>A | gnomAD |
NCI-TCGA novel | p.Gln794Lys | missense variant | - | NC_000017.11:g.65533937G>T | NCI-TCGA |
rs1555576353 | p.Lys797Thr | missense variant | - | NC_000017.11:g.65533927T>G | - |
rs1555576349 | p.Lys798Gln | missense variant | - | NC_000017.11:g.65533925T>G | - |
rs771837388 | p.Lys798Arg | missense variant | - | NC_000017.11:g.65533924T>C | ExAC,gnomAD |
rs778752803 | p.Arg802Met | missense variant | - | NC_000017.11:g.65533912C>A | ExAC,TOPMed,gnomAD |
rs778752803 | p.Arg802Thr | missense variant | - | NC_000017.11:g.65533912C>G | ExAC,TOPMed,gnomAD |
rs1280152084 | p.Tyr803Cys | missense variant | - | NC_000017.11:g.65530100T>C | gnomAD |
rs768614505 | p.Lys806Arg | missense variant | - | NC_000017.11:g.65530091T>C | ExAC,TOPMed,gnomAD |
rs780367025 | p.Lys807Thr | missense variant | - | NC_000017.11:g.65530088T>G | ExAC,gnomAD |
rs780367025 | p.Lys807Ile | missense variant | - | NC_000017.11:g.65530088T>A | ExAC,gnomAD |
rs140344858 | p.Asp810Asn | missense variant | - | NC_000017.11:g.65530080C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs757835133 | p.Asp810Glu | missense variant | - | NC_000017.11:g.65530078A>T | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Glu811Gly | missense variant | - | NC_000017.11:g.65530076T>C | NCI-TCGA |
rs1555575491 | p.Glu811Gln | missense variant | - | NC_000017.11:g.65530077C>G | - |
rs372420075 | p.Ala813Thr | missense variant | - | NC_000017.11:g.65530071C>T | ESP,TOPMed |
rs1060502127 | p.Cys814Phe | missense variant | - | NC_000017.11:g.65530067C>A | - |
rs1555575480 | p.Gly815Arg | missense variant | - | NC_000017.11:g.65530065C>T | - |
rs755508971 | p.Ala816Val | missense variant | - | NC_000017.11:g.65530061G>A | ExAC,gnomAD |
COSM4756455 | p.Glu819Gln | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.65530053C>G | NCI-TCGA Cosmic |
rs1244596696 | p.Asp824Asn | missense variant | - | NC_000017.11:g.65530038C>T | gnomAD |
rs767106022 | p.Asp824Glu | missense variant | - | NC_000017.11:g.65530036A>T | ExAC,TOPMed,gnomAD |
rs759355821 | p.Thr826Met | missense variant | - | NC_000017.11:g.65530031G>A | ExAC,TOPMed,gnomAD |
rs144788470 | p.Val827Met | missense variant | - | NC_000017.11:g.65530029C>T | ESP,ExAC,gnomAD |
rs1285654850 | p.Pro829Leu | missense variant | - | NC_000017.11:g.65530022G>A | gnomAD |
rs878854727 | p.Met830Lys | missense variant | - | NC_000017.11:g.65530019A>T | TOPMed,gnomAD |
rs747010025 | p.Met830Ile | missense variant | - | NC_000017.11:g.65530018C>T | ExAC,gnomAD |
rs878854727 | p.Met830Thr | missense variant | - | NC_000017.11:g.65530019A>G | TOPMed,gnomAD |
rs775884055 | p.Tyr831Asp | missense variant | - | NC_000017.11:g.65530017A>C | ExAC,gnomAD |
rs199838262 | p.Arg834Gln | missense variant | - | NC_000017.11:g.65530007C>T | 1000Genomes,ExAC,gnomAD |
rs878854728 | p.Arg834Trp | missense variant | - | NC_000017.11:g.65530008G>A | gnomAD |
rs562176077 | p.Arg841Gln | missense variant | - | NC_000017.11:g.65529986C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs562176077 | p.Arg841Pro | missense variant | - | NC_000017.11:g.65529986C>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs527766429 | p.Arg841Trp | missense variant | - | NC_000017.11:g.65529987G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1413374885 | p.Asp843Val | missense variant | - | NC_000017.11:g.65529980T>A | TOPMed,gnomAD |
rs1249731868 | p.Asp843Asn | missense variant | - | NC_000017.11:g.65529981C>T | TOPMed |
rs1249731868 | p.Asp843His | missense variant | - | NC_000017.11:g.65529981C>G | TOPMed |
Disease ID | Disease Name | Disease Type | Source |
---|---|---|---|
C0000846 | Agenesis | disease | BEFREE |
C0001430 | Adenoma | group | BEFREE |
C0002793 | Anaplasia | disease | BEFREE |
C0004991 | Benign neoplasm of colon | disease | CLINGEN |
C0006142 | Malignant neoplasm of breast | disease | BEFREE |
C0006826 | Malignant Neoplasms | group | BEFREE |
C0007102 | Malignant tumor of colon | disease | BEFREE;CTD_human |
C0007131 | Non-Small Cell Lung Carcinoma | disease | BEFREE |
C0007134 | Renal Cell Carcinoma | disease | BEFREE;HPO |
C0008924 | Cleft upper lip | disease | LHGDN |
C0009375 | Colonic Neoplasms | group | BEFREE;CTD_human;LHGDN |
C0009402 | Colorectal Carcinoma | disease | BEFREE;CTD_human |
C0009404 | Colorectal Neoplasms | group | CTD_human;LHGDN |
C0010278 | Craniosynostosis | disease | MGD |
C0011854 | Diabetes Mellitus, Insulin-Dependent | disease | BEFREE |
C0011881 | Diabetic Nephropathy | disease | BEFREE |
C0013575 | Ectodermal Dysplasia | disease | BEFREE |
C0017636 | Glioblastoma | disease | BEFREE |
C0017638 | Glioma | disease | BEFREE |
C0020608 | Hypodontia | disease | BEFREE;ORPHANET |
C0021841 | Intestinal Neoplasms | group | BEFREE |
C0023532 | Leukoplakia, Oral | disease | BEFREE |
C0023903 | Liver neoplasms | group | BEFREE |
C0024121 | Lung Neoplasms | group | LHGDN |
C0024143 | Lupus Nephritis | disease | BEFREE |
C0024623 | Malignant neoplasm of stomach | disease | BEFREE;CGI |
C0025149 | Medulloblastoma | disease | BEFREE;LHGDN |
C0025202 | melanoma | disease | BEFREE;LHGDN |
C0025990 | Micrognathism | disease | HPO |
C0026764 | Multiple Myeloma | disease | BEFREE |
C0026769 | Multiple Sclerosis | disease | BEFREE |
C0027627 | Neoplasm Metastasis | phenotype | BEFREE |
C0029925 | Ovarian Carcinoma | disease | BEFREE |
C0032580 | Adenomatous Polyposis Coli | disease | BEFREE |
C0038356 | Stomach Neoplasms | group | BEFREE;CGI;HPO |
C0039101 | synovial sarcoma | disease | BEFREE |
C0153381 | Malignant neoplasm of mouth | disease | BEFREE |
C0153452 | Malignant neoplasm of gallbladder | disease | BEFREE |
C0153943 | Benign neoplasm of stomach | disease | CGI |
C0154060 | Carcinoma in situ of stomach | disease | CGI |
C0206624 | Hepatoblastoma | disease | BEFREE |
C0206667 | Adrenal Cortical Adenoma | disease | BEFREE |
C0206731 | Angiofibroma | disease | BEFREE |
C0220641 | Lip and Oral Cavity Carcinoma | disease | BEFREE |
C0235782 | Gallbladder Carcinoma | disease | BEFREE |
C0240310 | Hypoplasia of the maxilla | disease | HPO |
C0240340 | Microdontia (disorder) | disease | HPO |
C0242379 | Malignant neoplasm of lung | disease | BEFREE |
C0279628 | Adenocarcinoma Of Esophagus | disease | BEFREE |
C0279680 | Transitional cell carcinoma of bladder | disease | HPO |
C0280631 | Leiomyosarcoma of uterus | disease | HPO |
C0334294 | Multiple adenomatous polyps | disease | BEFREE |
C0376358 | Malignant neoplasm of prostate | disease | BEFREE |
C0496905 | Neoplasm of uncertain or unknown behavior of stomach | disease | CGI |
C0596263 | Carcinogenesis | phenotype | BEFREE |
C0600139 | Prostate carcinoma | disease | BEFREE |
C0678222 | Breast Carcinoma | disease | BEFREE |
C0684249 | Carcinoma of lung | disease | BEFREE |
C0685938 | Malignant neoplasm of gastrointestinal tract | disease | BEFREE |
C0699790 | Colon Carcinoma | disease | BEFREE;CLINVAR |
C0699791 | Stomach Carcinoma | disease | BEFREE;CGI |
C1140680 | Malignant neoplasm of ovary | disease | BEFREE |
C1266005 | Basaloid squamous cell carcinoma | disease | BEFREE |
C1306459 | Primary malignant neoplasm | group | BEFREE |
C1306460 | Primary malignant neoplasm of lung | disease | BEFREE |
C1319315 | Adenocarcinoma of large intestine | disease | CGI |
C1458155 | Mammary Neoplasms | group | LHGDN |
C1527249 | Colorectal Cancer | disease | BEFREE;CTD_human |
C1608408 | Malignant transformation | phenotype | BEFREE |
C1621958 | Glioblastoma Multiforme | disease | BEFREE |
C1837750 | Oligodontia-Colorectal Cancer Syndrome | disease | BEFREE;CLINVAR;CTD_human;ORPHANET |
C1857130 | Hypoplastic mandible condyle | phenotype | HPO |
C2239176 | Liver carcinoma | disease | BEFREE;CGI |
C2751492 | AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED | disease | BEFREE |
C3489529 | Tooth Agenesis, Familial | disease | BEFREE |
C3539878 | Triple Negative Breast Neoplasms | disease | BEFREE |
C4020813 | Increased gastric cancer | phenotype | HPO |
C4024589 | Aplasia/Hypoplasia of the mandible | phenotype | HPO |
C4024989 | Hereditary nonpolyposis colorectal carcinoma | disease | HPO |
C4082243 | Maxillary retrognathia | phenotype | HPO |
C4082304 | Oligodontia | disease | BEFREE;HPO;ORPHANET |
C4280611 | Decreased size of teeth | phenotype | HPO |
C4280612 | Decreased width of tooth | phenotype | HPO |
C4280619 | Missing more than six teeth | phenotype | HPO |
C4280640 | Retrusion of upper jaw bones | phenotype | HPO |
C4280641 | Hypotrophic maxilla | phenotype | HPO |
C4280642 | Deficiency of upper jaw bones | phenotype | HPO |
C4280643 | Decreased projection of maxilla | phenotype | HPO |
C4476523 | Decreased projection of lower jaw | phenotype | HPO |
C4476524 | Decreased projection of mandible | phenotype | HPO |
C4476525 | Retrusion of lower jaw | phenotype | HPO |
GO ID | GO Term | Evidence |
---|---|---|
GO:0005515 | protein binding | IPI |
GO:0008013 | beta-catenin binding | NAS |
GO:0019899 | enzyme binding | IPI |
GO:0031625 | ubiquitin protein ligase binding | IPI |
GO:0070411 | I-SMAD binding | IEA |
GO ID | GO Term | Evidence |
---|---|---|
GO:0001756 | somitogenesis | IEA |
GO:0001934 | positive regulation of protein phosphorylation | IMP |
GO:0001957 | intramembranous ossification | IEA |
GO:0003139 | secondary heart field specification | IEA |
GO:0003413 | chondrocyte differentiation involved in endochondral bone morphogenesis | IEA |
GO:0008283 | cell population proliferation | IEA |
GO:0008285 | negative regulation of cell population proliferation | IMP |
GO:0010718 | positive regulation of epithelial to mesenchymal transition | IMP |
GO:0010942 | positive regulation of cell death | IMP |
GO:0016055 | Wnt signaling pathway | IEA |
GO:0030282 | bone mineralization | IEA |
GO:0032423 | regulation of mismatch repair | IMP |
GO:0034613 | cellular protein localization | IDA |
GO:0042476 | odontogenesis | IMP |
GO:0043570 | maintenance of DNA repeat elements | IMP |
GO:0045668 | negative regulation of osteoblast differentiation | IEA |
GO:0048255 | mRNA stabilization | IMP |
GO:0061181 | regulation of chondrocyte development | IEA |
GO:0070602 | regulation of centromeric sister chromatid cohesion | IMP |
GO:0090090 | negative regulation of canonical Wnt signaling pathway | IMP |
GO:0090090 | negative regulation of canonical Wnt signaling pathway | IDA |
GO:0090263 | positive regulation of canonical Wnt signaling pathway | TAS |
GO:1904837 | beta-catenin-TCF complex assembly | TAS |
GO ID | GO Term | Evidence |
---|---|---|
GO:0005634 | nucleus | IDA |
GO:0005737 | cytoplasm | IDA |
GO:0005813 | centrosome | IDA |
GO:0005829 | cytosol | TAS |
GO:0030877 | beta-catenin destruction complex | NAS |
Reactome ID | Reactome Term | Evidence |
---|---|---|
R-HSA-162582 | Signal Transduction | TAS |
R-HSA-195721 | Signaling by WNT | TAS |
R-HSA-201681 | TCF dependent signaling in response to WNT | TAS |
R-HSA-201722 | Formation of the beta-catenin:TCF transactivating complex | TAS |
R-HSA-392499 | Metabolism of proteins | TAS |
R-HSA-4411364 | Binding of TCF/LEF:CTNNB1 to target gene promoters | TAS |
R-HSA-4641257 | Degradation of AXIN | TAS |
R-HSA-5688426 | Deubiquitination | TAS |
R-HSA-5689880 | Ub-specific processing proteases | TAS |
R-HSA-597592 | Post-translational protein modification | TAS |
ID | Drug Name | Action | PubMed |
---|---|---|---|
C552530 | 1,1-bis(3'-indolyl)-1-(4-hydroxyphenyl)methane | 1,1-bis(3'-indolyl)-1-(4-hydroxyphenyl)methane inhibits the reaction [TGFB1 protein promotes the reaction [NR4A1 protein binds to AXIN2 protein]] | 26929200 |
C028474 | 1,4-bis(2-(3,5-dichloropyridyloxy))benzene | 1,4-bis(2-(3,5-dichloropyridyloxy))benzene results in decreased expression of AXIN2 protein | 21705713 |
C051246 | 1-methylanthracene | [1-methylanthracene co-treated with fluoranthene] results in decreased expression of AXIN2 mRNA | 28329830 |
C548651 | 2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester | 2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in increased expression of AXIN2 mRNA | 19933214 |
C014024 | 2,4,5,2',4',5'-hexachlorobiphenyl | 2,4,5,2',4',5'-hexachlorobiphenyl inhibits the reaction [WNT3A results in increased expression of AXIN2 protein] | 19464575 |
C014024 | 2,4,5,2',4',5'-hexachlorobiphenyl | 2,4,5,2',4',5'-hexachlorobiphenyl results in decreased expression of AXIN2 mRNA | 19464575 |
C511621 | 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide inhibits the reaction [Particulate Matter analog results in decreased expression of AXIN2 mRNA] | 27216425 |
C511621 | 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide results in decreased expression of AXIN2 mRNA | 29704546 |
C023035 | 3,4,5,3',4'-pentachlorobiphenyl | [3,4,5,3',4'-pentachlorobiphenyl co-treated with kenpaullone] results in increased expression of AXIN2 mRNA | 25711857 |
C023035 | 3,4,5,3',4'-pentachlorobiphenyl | [3,4,5,3',4'-pentachlorobiphenyl co-treated with XAV939] results in increased expression of AXIN2 mRNA | 25711857 |
C023035 | 3,4,5,3',4'-pentachlorobiphenyl | 3,4,5,3',4'-pentachlorobiphenyl results in increased expression of AXIN2 mRNA | 25711857 |
C023035 | 3,4,5,3',4'-pentachlorobiphenyl | 3,4,5,3',4'-pentachlorobiphenyl results in decreased expression of AXIN2 mRNA | 23196670 |
C459179 | 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | [NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of AXIN2 mRNA | 27188386 |
C459179 | 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | [NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of AXIN2 mRNA | 27188386 |
C459179 | 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | [NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of AXIN2 mRNA | 27188386 |
C111855 | 6-formylindolo(3,2-b)carbazole | AHR2 protein affects the reaction [[kenpaullone co-treated with 6-formylindolo(3,2-b)carbazole] results in increased expression of AXIN2 mRNA] | 25711857 |
C111855 | 6-formylindolo(3,2-b)carbazole | [AHR2 protein co-treated with 6-formylindolo(3,2-b)carbazole] results in increased expression of AXIN2 mRNA | 25711857 |
C111855 | 6-formylindolo(3,2-b)carbazole | [kenpaullone co-treated with 6-formylindolo(3,2-b)carbazole] results in increased expression of AXIN2 mRNA | 25711857 |
C111855 | 6-formylindolo(3,2-b)carbazole | [XAV939 co-treated with 6-formylindolo(3,2-b)carbazole] results in increased expression of AXIN2 mRNA | 25711857 |
C496492 | abrine | abrine results in decreased expression of AXIN2 mRNA | 31054353 |
D000079 | Acetaldehyde | Acetaldehyde affects the expression of AXIN2 mRNA | 22634333 |
C042151 | aeroplysinin I | aeroplysinin I results in decreased expression of AXIN2 protein | 27120392 |
D000395 | Air Pollutants, Occupational | Air Pollutants, Occupational results in increased expression of AXIN2 mRNA | 19936710 |
D000643 | Ammonium Chloride | Ammonium Chloride affects the expression of AXIN2 mRNA | 16483693 |
D000661 | Amphetamine | Amphetamine results in decreased expression of AXIN2 mRNA | 30779732 |
D000728 | Androgens | Androgens deficiency results in decreased expression of AXIN2 mRNA | 29367455 |
D000728 | Androgens | Dihydrotestosterone inhibits the reaction [Androgens deficiency results in decreased expression of AXIN2 mRNA] | 29367455 |
D018501 | Antirheumatic Agents | Antirheumatic Agents results in increased expression of AXIN2 mRNA | 24449571 |
D000077237 | Arsenic Trioxide | Arsenic Trioxide results in decreased expression of AXIN2 mRNA | 29633893 |
C015001 | arsenite | arsenite results in increased methylation of AXIN2 promoter | 23974009 |
D001564 | Benzo(a)pyrene | Benzo(a)pyrene results in decreased expression of AXIN2 mRNA | 26238291 |
D001663 | Bilirubin | Bilirubin results in decreased expression of AXIN2 mRNA | 20196124 |
C006780 | bisphenol A | bisphenol A affects the expression of AXIN2 mRNA | 21786754 |
C006780 | bisphenol A | bisphenol A results in decreased expression of AXIN2 mRNA | 27685785 |
C006780 | bisphenol A | bisphenol A results in decreased methylation of AXIN2 promoter | 27312807 |
C006780 | bisphenol A | bisphenol A results in decreased expression of AXIN2 mRNA | 25181051; 30816183; |
C106525 | broussochalcone A | broussochalcone A results in decreased expression of AXIN2 protein | 31163223 |
D002087 | Butyrates | Butyrates results in increased expression of AXIN2 mRNA | 16042588 |
D002185 | Cannabidiol | Cannabidiol affects the methylation of AXIN2 gene | 30521419 |
D002220 | Carbamazepine | Carbamazepine affects the expression of AXIN2 mRNA | 25979313 |
D002220 | Carbamazepine | Carbamazepine affects the expression of AXIN2 mRNA | 22634333 |
D002251 | Carbon Tetrachloride | Carbon Tetrachloride results in decreased expression of AXIN2 mRNA | 31150632 |
D002251 | Carbon Tetrachloride | schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of AXIN2 mRNA] | 31150632 |
C054133 | casticin | casticin results in increased expression of AXIN2 mRNA | 27862857 |
C473711 | Chir 99021 | Chir 99021 inhibits the reaction [Particulate Matter analog results in decreased expression of AXIN2 mRNA] | 27216425 |
D004390 | Chlorpyrifos | Chlorpyrifos results in decreased expression of AXIN2 mRNA | 18668222 |
D002794 | Choline | [Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of AXIN2 gene | 20938992 |
D002922 | Ciguatoxins | Ciguatoxins affects the expression of AXIN2 mRNA | 18353800 |
D003024 | Clozapine | Clozapine results in decreased expression of AXIN2 mRNA | 16715494 |
D003300 | Copper | Copper results in increased expression of AXIN2 mRNA | 30556269 |
D019327 | Copper Sulfate | Copper Sulfate results in increased expression of AXIN2 mRNA | 19549813 |
D003471 | Cuprizone | Cuprizone results in increased expression of AXIN2 mRNA | 26577399 |
D000077209 | Decitabine | Decitabine results in decreased methylation of AXIN2 gene | 27923600 |
D000077209 | Decitabine | Decitabine results in increased expression of AXIN2 mRNA | 27915011 |
C007262 | deoxynivalenol | deoxynivalenol results in increased expression of AXIN2 protein | 30690062 |
D003907 | Dexamethasone | Dexamethasone inhibits the reaction [RX3 gene mutant form affects the expression of AXIN2 mRNA] | 27941970 |
D003993 | Dibutyl Phthalate | Dibutyl Phthalate results in increased expression of AXIN2 mRNA | 21266533 |
D004026 | Dieldrin | Dieldrin results in decreased expression of AXIN2 mRNA | 28385952 |
D013196 | Dihydrotestosterone | Dihydrotestosterone inhibits the reaction [Androgens deficiency results in decreased expression of AXIN2 mRNA] | 29367455 |
D004147 | Dioxins | Dioxins affects the expression of AXIN2 mRNA | 20463971 |
C516138 | dorsomorphin | [NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of AXIN2 mRNA | 27188386 |
C516138 | dorsomorphin | [NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of AXIN2 mRNA | 27188386 |
C516138 | dorsomorphin | [NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of AXIN2 mRNA | 27188386 |
D004317 | Doxorubicin | Doxorubicin results in increased oxidation of AXIN2 protein | 28818578 |
D004365 | Drugs, Chinese Herbal | Drugs, Chinese Herbal results in increased expression of AXIN2 mRNA | 23262642 |
D004958 | Estradiol | EGF protein inhibits the reaction [Estradiol results in decreased expression of AXIN2 mRNA] | 24758408 |
D004958 | Estradiol | Estradiol affects the expression of AXIN2 mRNA | 22574217 |
D004958 | Estradiol | [Estradiol co-treated with Progesterone] results in decreased expression of AXIN2 mRNA | 20660070 |
D004958 | Estradiol | Estradiol results in decreased expression of AXIN2 mRNA | 24758408 |
D000431 | Ethanol | Ethanol affects the expression of AXIN2 mRNA | 30319688 |
D017313 | Fenretinide | Fenretinide results in decreased expression of AXIN2 mRNA | 28973697 |
D017313 | Fenretinide | Fenretinide results in increased expression of AXIN2 mRNA | 28973697 |
C007738 | fluoranthene | [1-methylanthracene co-treated with fluoranthene] results in decreased expression of AXIN2 mRNA | 28329830 |
C061365 | flusilazole | flusilazole affects the expression of AXIN2 mRNA | 22634333 |
D005492 | Folic Acid | [Folic Acid co-treated with sodium arsenite] results in increased methylation of AXIN2 mRNA | 22959928 |
D005492 | Folic Acid | [Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of AXIN2 gene | 20938992 |
C069837 | fullerene C60 | fullerene C60 results in increased expression of AXIN2 mRNA | 19167457 |
C056507 | gemcitabine | gemcitabine affects the expression of AXIN2 mRNA | 20103597 |
C010974 | glyphosate | glyphosate results in increased methylation of AXIN2 gene | 31011160 |
D006220 | Haloperidol | Haloperidol results in decreased expression of AXIN2 mRNA | 16715494 |
D006247 | Harmine | Harmine inhibits the reaction [WNT3A protein results in increased expression of AXIN2 mRNA] | 20519739 |
D006861 | Hydrogen Peroxide | Hydrogen Peroxide results in increased expression of AXIN2 mRNA | 26846883 |
C119620 | kenpaullone | [3,4,5,3',4'-pentachlorobiphenyl co-treated with kenpaullone] results in increased expression of AXIN2 mRNA | 25711857 |
C119620 | kenpaullone | AHR2 protein affects the reaction [[kenpaullone co-treated with 6-formylindolo(3,2-b)carbazole] results in increased expression of AXIN2 mRNA] | 25711857 |
C119620 | kenpaullone | AHR2 protein affects the reaction [kenpaullone results in increased expression of AXIN2 mRNA] | 25711857 |
C119620 | kenpaullone | [kenpaullone co-treated with 6-formylindolo(3,2-b)carbazole] results in increased expression of AXIN2 mRNA | 25711857 |
C119620 | kenpaullone | kenpaullone results in increased expression of AXIN2 mRNA | 25711857 |
D002955 | Leucovorin | [Methotrexate co-treated with Leucovorin] results in increased expression of AXIN2 mRNA | 25187349 |
D018021 | Lithium Chloride | Lithium Chloride results in increased expression of AXIN2 mRNA | 22493441; 24534281; |
D018021 | Lithium Chloride | Niclosamide inhibits the reaction [Lithium Chloride results in increased expression of AXIN2 mRNA] | 24534281 |
D018021 | Lithium Chloride | XAV939 inhibits the reaction [Lithium Chloride results in increased expression of AXIN2 mRNA] | 24534281 |
D018021 | Lithium Chloride | [Lithium Chloride results in decreased activity of GSK3B protein] which results in increased expression of AXIN2 mRNA | 21498875 |
D018021 | Lithium Chloride | Lithium Chloride results in increased expression of AXIN2 mRNA | 20694829; 23326414; 27693619; |
D018021 | Lithium Chloride | Phenobarbital inhibits the reaction [Lithium Chloride results in increased expression of AXIN2 mRNA] | 27693619 |
C025340 | manganese chloride | manganese chloride results in increased expression of AXIN2 mRNA | 28801915 |
D008715 | Methionine | [Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of AXIN2 gene | 20938992 |
D008727 | Methotrexate | [Methotrexate co-treated with Leucovorin] results in increased expression of AXIN2 mRNA | 25187349 |
D015735 | Mifepristone | Mifepristone results in increased expression of AXIN2 mRNA | 17584828 |
C523799 | MRK 003 | MRK 003 results in increased expression of AXIN2 mRNA | 21169257 |
C500085 | muraglitazar | muraglitazar results in decreased expression of AXIN2 mRNA | 21515302 |
D009532 | Nickel | Nickel results in decreased expression of AXIN2 mRNA | 24768652 |
C028007 | nickel monoxide | nickel monoxide results in increased expression of AXIN2 mRNA | 19167457 |
D009534 | Niclosamide | Niclosamide inhibits the reaction [Lithium Chloride results in increased expression of AXIN2 mRNA] | 24534281 |
D009534 | Niclosamide | Niclosamide results in decreased expression of AXIN2 mRNA | 22576131 |
D009534 | Niclosamide | Niclosamide results in decreased expression of AXIN2 protein | 24552774; 24736023; |
C015157 | N,N-dimethylaniline | N,N-dimethylaniline analog results in decreased expression of AXIN2 protein | 21291235 |
D019319 | Okadaic Acid | Okadaic Acid results in increased expression of AXIN2 mRNA | 31115591 |
D000077767 | Panobinostat | [NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of AXIN2 mRNA | 27188386 |
D000077767 | Panobinostat | Panobinostat results in increased expression of AXIN2 mRNA | 26272509 |
D010261 | Paraoxon | Paraoxon results in decreased expression of AXIN2 mRNA | 24413757 |
D010269 | Paraquat | Paraquat results in decreased expression of AXIN2 mRNA | 27788593 |
D052638 | Particulate Matter | 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide inhibits the reaction [Particulate Matter analog results in decreased expression of AXIN2 mRNA] | 27216425 |
D052638 | Particulate Matter | Chir 99021 inhibits the reaction [Particulate Matter analog results in decreased expression of AXIN2 mRNA] | 27216425 |
D052638 | Particulate Matter | Particulate Matter analog results in decreased expression of AXIN2 mRNA | 27216425 |
C000610380 | p-carboxymethylphenyl 1,1-bis(3'-indolyl)-1-(p-carboxymethylphenyl)methane | p-carboxymethylphenyl 1,1-bis(3'-indolyl)-1-(p-carboxymethylphenyl)methane inhibits the reaction [TGFB1 protein promotes the reaction [NR4A1 protein binds to AXIN2 protein]] | 26929200 |
C023036 | perfluorooctanoic acid | perfluorooctanoic acid results in decreased expression of AXIN2 mRNA | 19162173 |
D010634 | Phenobarbital | NR1I3 protein affects the reaction [Phenobarbital results in increased expression of AXIN2 mRNA] | 19482888 |
D010634 | Phenobarbital | Phenobarbital inhibits the reaction [Lithium Chloride results in increased expression of AXIN2 mRNA] | 27693619 |
D010634 | Phenobarbital | Phenobarbital results in decreased expression of AXIN2 mRNA | 27693619 |
D010634 | Phenobarbital | Phenobarbital results in increased expression of AXIN2 mRNA | 19482888 |
D010705 | Phosgene | Phosgene affects the expression of AXIN2 mRNA | 16300373 |
C006253 | pirinixic acid | pirinixic acid results in decreased expression of AXIN2 mRNA | 17426115 |
C548732 | PKF118-310 | PKF118-310 results in decreased expression of AXIN2 mRNA | 22470504 |
D010936 | Plant Extracts | Plant Extracts results in increased expression of AXIN2 mRNA | 23262642 |
D011192 | Potassium Dichromate | Potassium Dichromate results in increased expression of AXIN2 mRNA | 23608068 |
D017035 | Pravastatin | Pravastatin results in decreased expression of AXIN2 mRNA | 27225895 |
D011374 | Progesterone | Progesterone results in decreased expression of AXIN2 mRNA | 23012394 |
D011374 | Progesterone | [Estradiol co-treated with Progesterone] results in decreased expression of AXIN2 mRNA | 20660070 |
C024631 | pyrvinium | pyrvinium results in decreased expression of AXIN2 mRNA | 21170416 |
D011794 | Quercetin | Quercetin results in decreased expression of AXIN2 mRNA | 21632981; 30152185; |
D011794 | Quercetin | Quercetin inhibits the reaction [[Warfarin co-treated with Vitamin K] results in increased expression of AXIN2 mRNA] | 23117658 |
D011794 | Quercetin | Quercetin inhibits the reaction [Warfarin results in increased expression of AXIN2 mRNA] | 23117658 |
D000077185 | Resveratrol | Resveratrol results in decreased expression of AXIN2 mRNA | 21188121 |
D000077185 | Resveratrol | Resveratrol results in decreased expression of AXIN2 protein | 21291235 |
D000077185 | Resveratrol | Resveratrol results in decreased expression of AXIN2 mRNA | 22935447 |
D000077185 | Resveratrol | Resveratrol results in decreased expression of AXIN2 protein | 22935447 |
D000077185 | Resveratrol | Resveratrol results in increased expression of AXIN2 mRNA | 23848300 |
D000077154 | Rosiglitazone | Rosiglitazone results in decreased expression of AXIN2 mRNA | 21515302 |
C025759 | saikosaponin | saikosaponin results in increased expression of AXIN2 protein | 31175886 |
C025759 | saikosaponin | SB 216763 inhibits the reaction [saikosaponin results in increased expression of AXIN2 protein] | 31175886 |
C417521 | SB 216763 | SB 216763 inhibits the reaction [saikosaponin results in increased expression of AXIN2 protein] | 31175886 |
C417521 | SB 216763 | SB 216763 results in increased expression of AXIN2 mRNA | 19228266; 19448134; |
C015499 | schizandrin B | schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of AXIN2 mRNA] | 31150632 |
D012822 | Silicon Dioxide | Silicon Dioxide analog affects the expression of AXIN2 mRNA | 25895662 |
D012822 | Silicon Dioxide | Silicon Dioxide analog results in increased expression of AXIN2 mRNA | 23806026 |
D012822 | Silicon Dioxide | Silicon Dioxide results in decreased expression of AXIN2 mRNA | 27095093 |
D018030 | Silver Compounds | Silver Compounds results in increased expression of AXIN2 mRNA | 29703973 |
D019821 | Simvastatin | Simvastatin affects the expression of AXIN2 mRNA | 19968183 |
C017947 | sodium arsenite | [Folic Acid co-treated with sodium arsenite] results in increased methylation of AXIN2 mRNA | 22959928 |
C017947 | sodium arsenite | sodium arsenite results in increased expression of AXIN2 mRNA | 31170414 |
C075117 | squalestatin 1 | squalestatin 1 affects the expression of AXIN2 mRNA | 27225895 |
C501413 | tesaglitazar | tesaglitazar results in decreased expression of AXIN2 mRNA | 21515302 |
D013749 | Tetrachlorodibenzodioxin | Tetrachlorodibenzodioxin affects the expression of AXIN2 mRNA | 21570461 |
D013749 | Tetrachlorodibenzodioxin | [Tetrachlorodibenzodioxin binds to AHR protein] which results in increased expression of AXIN2 mRNA | 16214954 |
D013749 | Tetrachlorodibenzodioxin | Tetrachlorodibenzodioxin results in increased expression of AXIN2 mRNA | 18796159; 19933214; |
D013749 | Tetrachlorodibenzodioxin | [Tetrachlorodibenzodioxin binds to and results in increased activity of AHR protein] which results in decreased expression of AXIN2 mRNA | 21602191 |
D014028 | Tobacco Smoke Pollution | Tobacco Smoke Pollution results in decreased expression of AXIN2 mRNA | 30291989 |
D014028 | Tobacco Smoke Pollution | Tobacco Smoke Pollution results in increased expression of AXIN2 mRNA | 28065790 |
D014212 | Tretinoin | Tretinoin results in decreased expression of AXIN2 mRNA | 20530235 |
C012589 | trichostatin A | [NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of AXIN2 mRNA | 27188386 |
C012589 | trichostatin A | trichostatin A results in increased expression of AXIN2 mRNA | 24935251; 26272509; |
C016805 | tris(1,3-dichloro-2-propyl)phosphate | tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of AXIN2 mRNA | 26179874 |
D000077288 | Troglitazone | Troglitazone results in decreased expression of AXIN2 mRNA | 21515302 |
D014635 | Valproic Acid | Valproic Acid affects the expression of AXIN2 mRNA | 25979313 |
D014635 | Valproic Acid | Valproic Acid results in increased expression of AXIN2 mRNA | 23179753; 27188386; |
D001335 | Vehicle Emissions | Vehicle Emissions results in increased methylation of AXIN2 gene | 25560391 |
D014812 | Vitamin K | Quercetin inhibits the reaction [[Warfarin co-treated with Vitamin K] results in increased expression of AXIN2 mRNA] | 23117658 |
D014812 | Vitamin K | [Warfarin co-treated with Vitamin K] results in increased expression of AXIN2 mRNA | 23117658 |
D000077337 | Vorinostat | [NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of AXIN2 mRNA | 27188386 |
D000077337 | Vorinostat | Vorinostat results in increased expression of AXIN2 mRNA | 26272509 |
D014859 | Warfarin | Quercetin inhibits the reaction [[Warfarin co-treated with Vitamin K] results in increased expression of AXIN2 mRNA] | 23117658 |
D014859 | Warfarin | Quercetin inhibits the reaction [Warfarin results in increased expression of AXIN2 mRNA] | 23117658 |
D014859 | Warfarin | [Warfarin co-treated with Vitamin K] results in increased expression of AXIN2 mRNA | 23117658 |
D014859 | Warfarin | Warfarin results in increased expression of AXIN2 mRNA | 23117658 |
C544261 | XAV939 | [3,4,5,3',4'-pentachlorobiphenyl co-treated with XAV939] results in increased expression of AXIN2 mRNA | 25711857 |
C544261 | XAV939 | [XAV939 co-treated with 6-formylindolo(3,2-b)carbazole] results in increased expression of AXIN2 mRNA | 25711857 |
C544261 | XAV939 | XAV939 results in decreased expression of AXIN2 mRNA | 25711857 |
C544261 | XAV939 | XAV939 inhibits the reaction [Lithium Chloride results in increased expression of AXIN2 mRNA] | 24534281 |