Primary Site >> Pancreatic Cancer
Gene >> TP53
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7673823:7673823(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs193920774 |
| CDS Mutation | c.797G>A |
| AA Mutation | p.Gly266Glu(p.G266E) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7673772:7673772(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.848G>C |
| AA Mutation | p.Arg283Pro(p.R283P) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675077:7675077(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs587780070 |
| CDS Mutation | c.535C>T |
| AA Mutation | p.His179Tyr(p.H179Y) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674917:7674917(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.614A>T |
| AA Mutation | p.Tyr205Phe(p.Y205F) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674220:7674220(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs11540652 |
| CDS Mutation | c.743G>A |
| AA Mutation | p.Arg248Gln(p.R248Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675232:7675232(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs730881999 |
| CDS Mutation | c.380C>T |
| AA Mutation | p.Ser127Phe(p.S127F) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 7 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674214:7674214(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.749C>T |
| AA Mutation | p.Pro250Leu(p.P250L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 8 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675190:7675190(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs587781288 |
| CDS Mutation | c.422G>A |
| AA Mutation | p.Cys141Tyr(p.C141Y) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 9 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674230:7674230(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs28934575 |
| CDS Mutation | c.733G>A |
| AA Mutation | p.Gly245Ser(p.G245S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 10 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674221:7674221(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs121912651 |
| CDS Mutation | c.742C>T |
| AA Mutation | p.Arg248Trp(p.R248W) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 11 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675076:7675076(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.536A>G |
| AA Mutation | p.His179Arg(p.H179R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 12 |
| Mutation Consequence | missense_variant;splice_region_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675236:7675236(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.376T>A |
| AA Mutation | p.Tyr126Asn(p.Y126N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 13 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675161:7675161(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs28934874 |
| CDS Mutation | c.451C>A |
| AA Mutation | p.Pro151Thr(p.P151T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 14 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675088:7675088(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs28934578 |
| CDS Mutation | c.524G>A |
| AA Mutation | p.Arg175His(p.R175H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 15 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7676155:7676155(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs587782769 |
| CDS Mutation | c.214C>G |
| AA Mutation | p.Pro72Ala(p.P72A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 16 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7676161:7676161(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.208G>A |
| AA Mutation | p.Ala70Thr(p.A70T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 17 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7673776:7673776(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs28934574 |
| CDS Mutation | c.844C>T |
| AA Mutation | p.Arg282Trp(p.R282W) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 18 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675095:7675095(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.517G>C |
| AA Mutation | p.Val173Leu(p.V173L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 19 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7673803:7673803(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs121913343 |
| CDS Mutation | c.817C>T |
| AA Mutation | p.Arg273Cys(p.R273C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 20 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674241:7674241(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs28934573 |
| CDS Mutation | c.722C>T |
| AA Mutation | p.Ser241Phe(p.S241F) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 21 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7670700:7670700(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs587782529 |
| CDS Mutation | c.1009C>T |
| AA Mutation | p.Arg337Cys(p.R337C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 22 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7673823:7673823(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.797G>T |
| AA Mutation | p.Gly266Val(p.G266V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 23 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675220:7675220(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.392A>T |
| AA Mutation | p.Asn131Ile(p.N131I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 24 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674199:7674199(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.764T>C |
| AA Mutation | p.Ile255Thr(p.I255T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 25 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674229:7674229(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs121912656 |
| CDS Mutation | c.734G>A |
| AA Mutation | p.Gly245Asp(p.G245D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 26 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675208:7675208(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs587781991 |
| CDS Mutation | c.404G>A |
| AA Mutation | p.Cys135Tyr(p.C135Y) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 27 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7673802:7673802(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs28934576 |
| CDS Mutation | c.818G>A |
| AA Mutation | p.Arg273His(p.R273H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 28 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7673788:7673788(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.832C>T |
| AA Mutation | p.Pro278Ser(p.P278S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 29 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674202:7674202(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.761T>G |
| AA Mutation | p.Ile254Ser(p.I254S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 30 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7676040:7676040(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs11540654 |
| CDS Mutation | c.329G>T |
| AA Mutation | p.Arg110Leu(p.R110L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 31 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674220:7674220(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.743G>T |
| AA Mutation | p.Arg248Leu(p.R248L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 32 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674917:7674917(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.614A>C |
| AA Mutation | p.Tyr205Ser(p.Y205S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 33 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7673800:7673800(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.820G>T |
| AA Mutation | p.Val274Phe(p.V274F) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 34 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674248:7674248(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.715A>G |
| AA Mutation | p.Asn239Asp(p.N239D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 35 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674942:7674942(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs786204041 |
| CDS Mutation | c.589G>A |
| AA Mutation | p.Val197Met(p.V197M) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 36 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674250:7674250(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs730882005 |
| CDS Mutation | c.713G>A |
| AA Mutation | p.Cys238Tyr(p.C238Y) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 37 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675184:7675184(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.428T>A |
| AA Mutation | p.Val143Glu(p.V143E) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 38 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674187:7674187(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.776A>T |
| AA Mutation | p.Asp259Val(p.D259V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 39 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674229:7674229(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs121912656 |
| CDS Mutation | c.734G>T |
| AA Mutation | p.Gly245Val(p.G245V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 40 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674226:7674226(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs587780074 |
| CDS Mutation | c.737T>G |
| AA Mutation | p.Met246Arg(p.M246R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 41 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7673796:7673796(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.824G>T |
| AA Mutation | p.Cys275Phe(p.C275F) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 42 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674950:7674950(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.581T>A |
| AA Mutation | p.Leu194His(p.L194H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 43 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675151:7675151(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.461G>T |
| AA Mutation | p.Gly154Val(p.G154V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 44 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674888:7674888(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.643A>G |
| AA Mutation | p.Ser215Gly(p.S215G) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 45 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674241:7674241(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.722C>A |
| AA Mutation | p.Ser241Tyr(p.S241Y) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 46 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7673776:7673776(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs28934574 |
| CDS Mutation | c.844C>G |
| AA Mutation | p.Arg282Gly(p.R282G) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 47 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674872:7674872(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs121912666 |
| CDS Mutation | c.659A>G |
| AA Mutation | p.Tyr220Cys(p.Y220C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 48 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7673805:7673805(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.815T>C |
| AA Mutation | p.Val272Ala(p.V272A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 49 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675157:7675157(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs587782705 |
| CDS Mutation | c.455C>T |
| AA Mutation | p.Pro152Leu(p.P152L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 50 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675160:7675160(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.452C>G |
| AA Mutation | p.Pro151Arg(p.P151R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 51 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7673813:7673814(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.806_807delGC |
| AA Mutation | p.Ser269IlefsTer2(p.S269Ifs*2) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 52 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7673740:7673741(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.879_880delGG |
| AA Mutation | p.Glu294AlafsTer11(p.E294Afs*11) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 53 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7676398:7676398(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.80delC |
| AA Mutation | p.Pro27LeufsTer17(p.P27Lfs*17) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 54 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675157:7675157(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.455delC |
| AA Mutation | p.Pro152ArgfsTer18(p.P152Rfs*18) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 55 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7676267:7676267(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.102delC |
| AA Mutation | p.Leu35CysfsTer9(p.L35Cfs*9) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 56 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674895:7674895(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | rs864309495 |
| CDS Mutation | c.636delT |
| AA Mutation | p.Arg213AspfsTer34(p.R213Dfs*34) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 57 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7670685:7670685(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.1024delC |
| AA Mutation | p.Arg342GlufsTer3(p.R342Efs*3) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 58 |
| Mutation Consequence | frameshift_variant;splice_region_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675055:7675055(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.557delA |
| AA Mutation | p.Asp186ValfsTer61(p.D186Vfs*61) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 59 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674240:7674240(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.723delC |
| AA Mutation | p.Cys242AlafsTer5(p.C242Afs*5) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 60 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7676185:7676185(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.184delG |
| AA Mutation | p.Glu62LysfsTer61(p.E62Kfs*61) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 61 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674862:7674872(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.659_669delATGAGCCGCCT |
| AA Mutation | p.Tyr220Ter(p.Y220*) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 62 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675146:7675158(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.454_466delCCGCCCGGCACCC |
| AA Mutation | p.Pro152AlafsTer14(p.P152Afs*14) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 63 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000269305 |
| Start | 7676257:7676257(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.112C>T |
| AA Mutation | p.Gln38Ter(p.Q38*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 64 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000269305 |
| Start | 7674936:7674936(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.595G>T |
| AA Mutation | p.Gly199Ter(p.G199*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 65 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000269305 |
| Start | 7674945:7674945(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs397516435 |
| CDS Mutation | c.586C>T |
| AA Mutation | p.Arg196Ter(p.R196*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 66 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000269305 |
| Start | 7673728:7673728(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs201744589 |
| CDS Mutation | c.892G>T |
| AA Mutation | p.Glu298Ter(p.E298*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 67 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000269305 |
| Start | 7673740:7673740(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.880G>T |
| AA Mutation | p.Glu294Ter(p.E294*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 68 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000269305 |
| Start | 7673764:7673764(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.856G>T |
| AA Mutation | p.Glu286Ter(p.E286*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 69 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000269305 |
| Start | 7674894:7674894(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs397516436 |
| CDS Mutation | c.637C>T |
| AA Mutation | p.Arg213Ter(p.R213*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 70 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000269305 |
| Start | 7676059:7676059(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.310C>T |
| AA Mutation | p.Gln104Ter(p.Q104*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 71 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000269305 |
| Start | 7674957:7674957(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.574C>T |
| AA Mutation | p.Gln192Ter(p.Q192*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 72 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000269305 |
| Start | 7675207:7675207(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.405C>A |
| AA Mutation | p.Cys135Ter(p.C135*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 73 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000269305 |
| Start | 7673704:7673704(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs121913344 |
| CDS Mutation | c.916C>T |
| AA Mutation | p.Arg306Ter(p.R306*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 74 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000269305 |
| Start | 7675115:7675115(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.497C>A |
| AA Mutation | p.Ser166Ter(p.S166*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 75 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000269305 |
| Start | 7674237:7674237(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.726C>A |
| AA Mutation | p.Cys242Ter(p.C242*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 76 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675166:7675167(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | null |
| CDS Mutation | c.445dupT |
| AA Mutation | p.Ser149PhefsTer32(p.S149Ffs*32) |
| Mutation Classification | Frame_Shift_Ins |
| Feature Type | Transcript |
| ID | 77 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7676200:7676201(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | novel |
| CDS Mutation | c.167_168dupAA |
| AA Mutation | p.Asp57LysfsTer67(p.D57Kfs*67) |
| Mutation Classification | Frame_Shift_Ins |
| Feature Type | Transcript |
| ID | 78 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7676002:7676003(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | novel |
| CDS Mutation | c.366dupG |
| AA Mutation | p.Thr123AspfsTer26(p.T123Dfs*26) |
| Mutation Classification | Frame_Shift_Ins |
| Feature Type | Transcript |
| ID | 79 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675079:7675080(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | null |
| CDS Mutation | c.532dupC |
| AA Mutation | p.His178ProfsTer3(p.H178Pfs*3) |
| Mutation Classification | Frame_Shift_Ins |
| Feature Type | Transcript |
| ID | 80 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675997:7675998(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | null |
| CDS Mutation | c.371dupG |
| AA Mutation | p.Cys124TrpfsTer25(p.C124Wfs*25) |
| Mutation Classification | Frame_Shift_Ins |
| Feature Type | Transcript |
| ID | 81 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674881:7674882(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | novel |
| CDS Mutation | c.648_649dupGG |
| AA Mutation | p.Val217GlyfsTer31(p.V217Gfs*31) |
| Mutation Classification | Frame_Shift_Ins |
| Feature Type | Transcript |
| ID | 82 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7676152:7676153(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | rs730882018 |
| CDS Mutation | c.216dupC |
| AA Mutation | p.Val73ArgfsTer76(p.V73Rfs*76) |
| Mutation Classification | Frame_Shift_Ins |
| Feature Type | Transcript |