Primary Site >> Liver Cancer
Gene >> TP53
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7673764:7673764(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs786201059 |
| CDS Mutation | c.856G>A |
| AA Mutation | p.Glu286Lys(p.E286K) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674887:7674887(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.644G>T |
| AA Mutation | p.Ser215Ile(p.S215I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674252:7674252(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.711G>T |
| AA Mutation | p.Met237Ile(p.M237I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674216:7674216(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs28934571 |
| CDS Mutation | c.747G>T |
| AA Mutation | p.Arg249Ser(p.R249S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7673796:7673796(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.824G>A |
| AA Mutation | p.Cys275Tyr(p.C275Y) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674227:7674227(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs483352695 |
| CDS Mutation | c.736A>G |
| AA Mutation | p.Met246Val(p.M246V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 7 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674953:7674953(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs786201838 |
| CDS Mutation | c.578A>G |
| AA Mutation | p.His193Arg(p.H193R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 8 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675092:7675092(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.520A>T |
| AA Mutation | p.Arg174Trp(p.R174W) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 9 |
| 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 | 10 |
| 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>G |
| AA Mutation | p.Tyr126Asp(p.Y126D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 11 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675139:7675139(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs587782144 |
| CDS Mutation | c.473G>A |
| AA Mutation | p.Arg158His(p.R158H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 12 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675160:7675160(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.452C>A |
| AA Mutation | p.Pro151His(p.P151H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 13 |
| 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 | 14 |
| 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 | 15 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7673803:7673803(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs121913343 |
| CDS Mutation | c.817C>A |
| AA Mutation | p.Arg273Ser(p.R273S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 16 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7673793:7673793(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs786202082 |
| CDS Mutation | c.827C>G |
| AA Mutation | p.Ala276Gly(p.A276G) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 17 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674947:7674947(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.584T>G |
| AA Mutation | p.Ile195Ser(p.I195S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 18 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674942:7674942(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.589G>T |
| AA Mutation | p.Val197Leu(p.V197L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 19 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674917:7674917(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.614A>G |
| AA Mutation | p.Tyr205Cys(p.Y205C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 20 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674887:7674887(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.644G>A |
| AA Mutation | p.Ser215Asn(p.S215N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 21 |
| 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 | 22 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674251:7674251(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.712T>C |
| AA Mutation | p.Cys238Arg(p.C238R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 23 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675145:7675145(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.467G>C |
| AA Mutation | p.Arg156Pro(p.R156P) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 24 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7673777:7673777(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.843C>G |
| AA Mutation | p.Asp281Glu(p.D281E) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 25 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7673808:7673808(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.812A>T |
| AA Mutation | p.Glu271Val(p.E271V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 26 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675143:7675143(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs121912654 |
| CDS Mutation | c.469G>T |
| AA Mutation | p.Val157Phe(p.V157F) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 27 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7673797:7673797(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.823T>C |
| AA Mutation | p.Cys275Arg(p.C275R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 28 |
| 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 | 29 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675131:7675131(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.481G>T |
| AA Mutation | p.Ala161Ser(p.A161S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 30 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7676031:7676031(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.338T>G |
| AA Mutation | p.Phe113Cys(p.F113C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 31 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675084:7675084(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.528C>G |
| AA Mutation | p.Cys176Trp(p.C176W) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 32 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7673824:7673824(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.796G>A |
| AA Mutation | p.Gly266Arg(p.G266R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 33 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7673781:7673781(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.839G>A |
| AA Mutation | p.Arg280Lys(p.R280K) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 34 |
| 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 | 35 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674893:7674893(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.638G>T |
| AA Mutation | p.Arg213Leu(p.R213L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 36 |
| Mutation Consequence | missense_variant;splice_region_variant |
| Transcription ID | ENST00000269305 |
| Start | 7670715:7670715(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.994A>T |
| AA Mutation | p.Ile332Phe(p.I332F) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 37 |
| 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 | 38 |
| 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 | 39 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674193:7674193(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.770T>C |
| AA Mutation | p.Leu257Pro(p.L257P) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 40 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675195:7675195(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.417G>T |
| AA Mutation | p.Lys139Asn(p.K139N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 41 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674893:7674893(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs587778720 |
| CDS Mutation | c.638G>A |
| AA Mutation | p.Arg213Gln(p.R213Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 42 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7670688:7670688(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1021T>G |
| AA Mutation | p.Phe341Val(p.F341V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 43 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7676051:7676051(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.318C>G |
| AA Mutation | p.Ser106Arg(p.S106R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 44 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674206:7674206(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.757A>G |
| AA Mutation | p.Thr253Ala(p.T253A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 45 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674191:7674191(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs121912652 |
| CDS Mutation | c.772G>A |
| AA Mutation | p.Glu258Lys(p.E258K) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 46 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000269305 |
| Start | 7673830:7673830(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.790C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 47 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7673548:7673548(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.980delA |
| AA Mutation | p.Tyr327PhefsTer18(p.Y327Ffs*18) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 48 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674213:7674220(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.743_750delGGAGGCCC |
| AA Mutation | p.Arg248HisfsTer13(p.R248Hfs*13) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 49 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7673705:7673715(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.905_915delGGAGCACTAAG |
| AA Mutation | p.Gly302AlafsTer31(p.G302Afs*31) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 50 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674919:7674920(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.611_612delAG |
| AA Mutation | p.Glu204ValfsTer4(p.E204Vfs*4) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 51 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7676203:7676203(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.166delG |
| AA Mutation | p.Glu56LysfsTer67(p.E56Kfs*67) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 52 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674213:7674213(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.750delC |
| AA Mutation | p.Ile251SerfsTer94(p.I251Sfs*94) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 53 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674946:7674952(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.579_585delTCTTATC |
| AA Mutation | p.Leu194GlufsTer51(p.L194Efs*51) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 54 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675159:7675186(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.426_453delTGTGCAGCTGTGGGTTGATTCCACACCC |
| AA Mutation | p.Val143ArgfsTer18(p.V143Rfs*18) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 55 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7673545:7673545(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.983delT |
| AA Mutation | p.Phe328SerfsTer17(p.F328Sfs*17) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 56 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674277:7674280(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.683_686delACTG |
| AA Mutation | p.Asp228ValfsTer18(p.D228Vfs*18) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 57 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7676071:7676081(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.288_298delTGTCCCTTCCC |
| AA Mutation | p.Val97GlufsTer48(p.V97Efs*48) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 58 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7673832:7673832(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.788delA |
| AA Mutation | p.Asn263IlefsTer82(p.N263Ifs*82) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 59 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7676102:7676102(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | rs587783062 |
| CDS Mutation | c.267delC |
| AA Mutation | p.Ser90ProfsTer33(p.S90Pfs*33) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 60 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674254:7674254(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.709delA |
| AA Mutation | p.Met237CysfsTer10(p.M237Cfs*10) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 61 |
| Mutation Consequence | frameshift_variant;splice_region_variant |
| Transcription ID | ENST00000269305 |
| Start | 7673835:7673835(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.785delG |
| AA Mutation | p.Gly262ValfsTer83(p.G262Vfs*83) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 62 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7676241:7676241(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.128delT |
| AA Mutation | p.Leu43Ter(p.L43*) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 63 |
| 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 | 64 |
| 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 | 65 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000269305 |
| Start | 7675182:7675182(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs757274881 |
| CDS Mutation | c.430C>T |
| AA Mutation | p.Gln144Ter(p.Q144*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 66 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000269305 |
| Start | 7675206:7675206(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.406C>T |
| AA Mutation | p.Gln136Ter(p.Q136*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 67 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000269305 |
| Start | 7674870:7674870(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.661G>T |
| AA Mutation | p.Glu221Ter(p.E221*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 68 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000269305 |
| Start | 7674921:7674921(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.610G>T |
| AA Mutation | p.Glu204Ter(p.E204*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 69 |
| 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 | 70 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000269305 |
| Start | 7673789:7673789(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.831T>A |
| AA Mutation | p.Cys277Ter(p.C277*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 71 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000269305 |
| Start | 7675101:7675101(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.511G>T |
| AA Mutation | p.Glu171Ter(p.E171*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 72 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675184:7675185(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | novel |
| CDS Mutation | c.423_427dupCCCTG |
| AA Mutation | p.Val143AlafsTer29(p.V143Afs*29) |
| Mutation Classification | Frame_Shift_Ins |
| Feature Type | Transcript |
| ID | 73 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7673794:7673795(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | novel |
| CDS Mutation | c.822_825dupTTGT |
| AA Mutation | p.Ala276LeufsTer31(p.A276Lfs*31) |
| Mutation Classification | Frame_Shift_Ins |
| Feature Type | Transcript |
| ID | 74 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7673831:7673832(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | novel |
| CDS Mutation | c.788_789insG |
| AA Mutation | p.Asn263LysfsTer9(p.N263Kfs*9) |
| Mutation Classification | Frame_Shift_Ins |
| Feature Type | Transcript |
| ID | 75 |
| Mutation Consequence | splice_acceptor_variant |
| Transcription ID | ENST00000269305 |
| Start | 7673610:7673610(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs397516439 |
| CDS Mutation | c.920-2A>G |
| Mutation Classification | Splice_Site |
| Feature Type | Transcript |