Primary Site >> Stomach Cancer
Gene >> TP53
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7673806:7673806(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs121912657 |
| CDS Mutation | c.814G>A |
| AA Mutation | p.Val272Met(p.V272M) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675208:7675208(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.404G>T |
| AA Mutation | p.Cys135Phe(p.C135F) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| 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 | 4 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675206:7675206(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.406C>G |
| AA Mutation | p.Gln136Glu(p.Q136E) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 5 |
| 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 | 6 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7676079:7676079(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs730881995 |
| CDS Mutation | c.290T>A |
| AA Mutation | p.Val97Asp(p.V97D) |
| 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 | 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 | 9 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7673812:7673812(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.808T>C |
| AA Mutation | p.Phe270Leu(p.F270L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 10 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674918:7674918(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.613T>C |
| AA Mutation | p.Tyr205His(p.Y205H) |
| 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 |
| 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 | 13 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7676047:7676047(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs587782461 |
| CDS Mutation | c.322G>A |
| AA Mutation | p.Gly108Ser(p.G108S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 14 |
| 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 | 15 |
| Mutation Consequence | missense_variant;splice_region_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675995:7675995(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs786201057 |
| CDS Mutation | c.374C>T |
| AA Mutation | p.Thr125Met(p.T125M) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 16 |
| 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 | 17 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7673763:7673763(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.857A>G |
| AA Mutation | p.Glu286Gly(p.E286G) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 18 |
| 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 | 19 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674252:7674252(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs587782664 |
| CDS Mutation | c.711G>A |
| AA Mutation | p.Met237Ile(p.M237I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 20 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674956:7674956(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs730882002 |
| CDS Mutation | c.575A>G |
| AA Mutation | p.Gln192Arg(p.Q192R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 21 |
| 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 | 22 |
| 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 | 23 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674225:7674225(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.738G>A |
| AA Mutation | p.Met246Ile(p.M246I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 24 |
| 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 | 25 |
| 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 | 26 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7676030:7676030(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.339C>G |
| AA Mutation | p.Phe113Leu(p.F113L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 27 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674233:7674233(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.730G>T |
| AA Mutation | p.Gly244Cys(p.G244C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 28 |
| 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 | 29 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7676584:7676584(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.11C>T |
| AA Mutation | p.Pro4Leu(p.P4L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 30 |
| 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 | 31 |
| 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 | 32 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675085:7675085(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.527G>T |
| AA Mutation | p.Cys176Phe(p.C176F) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 33 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674890:7674890(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.641A>G |
| AA Mutation | p.His214Arg(p.H214R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 34 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674250:7674250(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.713G>T |
| AA Mutation | p.Cys238Phe(p.C238F) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 35 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7673826:7673826(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.794T>C |
| AA Mutation | p.Leu265Pro(p.L265P) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 36 |
| 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 | 37 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675224:7675224(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.388C>G |
| AA Mutation | p.Leu130Val(p.L130V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 38 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674947:7674947(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs760043106 |
| CDS Mutation | c.584T>C |
| AA Mutation | p.Ile195Thr(p.I195T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 39 |
| 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 | 40 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674947:7674947(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.584T>A |
| AA Mutation | p.Ile195Asn(p.I195N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 41 |
| 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 | 42 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675095:7675095(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.517G>A |
| AA Mutation | p.Val173Met(p.V173M) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 43 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675128:7675128(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.484A>T |
| AA Mutation | p.Ile162Phe(p.I162F) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 44 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7676050:7676050(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.319T>G |
| AA Mutation | p.Tyr107Asp(p.Y107D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 45 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675089:7675089(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs138729528 |
| CDS Mutation | c.523C>G |
| AA Mutation | p.Arg175Gly(p.R175G) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 46 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7673811:7673811(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.809T>C |
| AA Mutation | p.Phe270Ser(p.F270S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 47 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7676155:7676155(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs587782769 |
| CDS Mutation | c.214C>T |
| AA Mutation | p.Pro72Ser(p.P72S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 48 |
| 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 | 49 |
| 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 | 50 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675178:7675178(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs587782197 |
| CDS Mutation | c.434T>C |
| AA Mutation | p.Leu145Pro(p.L145P) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 51 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675095:7675095(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.517G>T |
| AA Mutation | p.Val173Leu(p.V173L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 52 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675106:7675106(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.506T>C |
| AA Mutation | p.Met169Thr(p.M169T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 53 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675161:7675161(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.451C>G |
| AA Mutation | p.Pro151Ala(p.P151A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 54 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675212:7675212(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs267605077 |
| CDS Mutation | c.400T>C |
| AA Mutation | p.Phe134Leu(p.F134L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 55 |
| 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 | 56 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674238:7674238(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs121912655 |
| CDS Mutation | c.725G>A |
| AA Mutation | p.Cys242Tyr(p.C242Y) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 57 |
| 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 | 58 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7673821:7673821(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.799C>G |
| AA Mutation | p.Arg267Gly(p.R267G) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 59 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675077:7675077(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.535C>A |
| AA Mutation | p.His179Asn(p.H179N) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 60 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674188:7674188(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.775G>T |
| AA Mutation | p.Asp259Tyr(p.D259Y) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 61 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675109:7675109(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.503A>G |
| AA Mutation | p.His168Arg(p.H168R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 62 |
| 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 | 63 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7670676:7670676(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1033A>G |
| AA Mutation | p.Asn345Asp(p.N345D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 64 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7676037:7676037(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.332T>A |
| AA Mutation | p.Leu111Gln(p.L111Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 65 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675224:7675224(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.388C>T |
| AA Mutation | p.Leu130Phe(p.L130F) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 66 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674954:7674954(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.577C>T |
| AA Mutation | p.His193Tyr(p.H193Y) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 67 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674238:7674238(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs121912655 |
| CDS Mutation | c.725G>C |
| AA Mutation | p.Cys242Ser(p.C242S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 68 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7673809:7673809(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.811G>A |
| AA Mutation | p.Glu271Lys(p.E271K) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 69 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674205:7674205(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.758C>T |
| AA Mutation | p.Thr253Ile(p.T253I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 70 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675085:7675085(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs786202962 |
| CDS Mutation | c.527G>A |
| AA Mutation | p.Cys176Tyr(p.C176Y) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 71 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675057:7675057(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs367560109 |
| CDS Mutation | c.555C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 72 |
| 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 | 73 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7676153:7676153(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.216delC |
| AA Mutation | p.Val73TrpfsTer50(p.V73Wfs*50) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 74 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674247:7674248(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.715_716delAA |
| AA Mutation | p.Asn239GlnfsTer24(p.N239Qfs*24) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 75 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7673823:7673823(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.797delG |
| AA Mutation | p.Gly266AspfsTer79(p.G266Dfs*79) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 76 |
| 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 | 77 |
| Mutation Consequence | frameshift_variant;stop_lost |
| Transcription ID | ENST00000269305 |
| Start | 7669610:7669611(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.1180_1181delTG |
| AA Mutation | p.Ter394Thr(p.*394T) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 78 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7670694:7670694(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.1015delG |
| AA Mutation | p.Glu339ArgfsTer6(p.E339Rfs*6) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 79 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7673718:7673718(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.902delC |
| AA Mutation | p.Pro301GlnfsTer44(p.P301Qfs*44) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 80 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675209:7675209(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.403delT |
| AA Mutation | p.Cys135AlafsTer35(p.C135Afs*35) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 81 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7673775:7673778(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.842_845delACCG |
| AA Mutation | p.Asp281GlyfsTer63(p.D281Gfs*63) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 82 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675229:7675229(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.383delC |
| AA Mutation | p.Pro128LeufsTer42(p.P128Lfs*42) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 83 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674276:7674277(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.686_687delGT |
| AA Mutation | p.Cys229TyrfsTer10(p.C229Yfs*10) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 84 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7676076:7676082(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.287_293delCTGTCCC |
| AA Mutation | p.Ser96PhefsTer25(p.S96Ffs*25) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 85 |
| Mutation Consequence | frameshift_variant;splice_region_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674288:7674288(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.675delT |
| AA Mutation | p.Gly226AlafsTer21(p.G226Afs*21) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 86 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7673772:7673778(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.842_848delACCGGCG |
| AA Mutation | p.Asp281AlafsTer62(p.D281Afs*62) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 87 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674242:7674242(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.721delT |
| AA Mutation | p.Ser241ProfsTer6(p.S241Pfs*6) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 88 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675152:7675164(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.448_460delACACCCCCGCCCG |
| AA Mutation | p.Thr150AlafsTer16(p.T150Afs*16) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 89 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7676076:7676076(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.293delC |
| AA Mutation | p.Pro98LeufsTer25(p.P98Lfs*25) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 90 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7673740:7673740(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.880delG |
| AA Mutation | p.Glu294SerfsTer51(p.E294Sfs*51) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 91 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7674865:7674869(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.662_666delAGCCG |
| AA Mutation | p.Glu221AlafsTer2(p.E221Afs*2) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 92 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7673601:7673601(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.927delC |
| AA Mutation | p.Asn310ThrfsTer35(p.N310Tfs*35) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 93 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7676124:7676124(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.245delC |
| AA Mutation | p.Pro82ArgfsTer41(p.P82Rfs*41) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 94 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7676063:7676063(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.306delC |
| AA Mutation | p.Tyr103ThrfsTer20(p.Y103Tfs*20) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 95 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7676537:7676537(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.58delT |
| AA Mutation | p.Ser20GlnfsTer24(p.S20Qfs*24) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 96 |
| 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 | 97 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7669645:7669645(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | null |
| CDS Mutation | c.1146delA |
| AA Mutation | p.Lys382AsnfsTer40(p.K382Nfs*40) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 98 |
| 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 | 99 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7673769:7673769(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.851delC |
| AA Mutation | p.Thr284LysfsTer61(p.T284Kfs*61) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 100 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675135:7675159(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.453_477delCCCGCCCGGCACCCGCGTCCGCGCC |
| AA Mutation | p.Pro152TrpfsTer10(p.P152Wfs*10) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 101 |
| Mutation Consequence | frameshift_variant;stop_lost |
| Transcription ID | ENST00000269305 |
| Start | 7669610:7669617(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.1174_1181delTCAGACTG |
| AA Mutation | p.Ser392Thr(p.S392T) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 102 |
| 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 | 103 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000269305 |
| Start | 7673579:7673579(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.949C>T |
| AA Mutation | p.Gln317Ter(p.Q317*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 104 |
| 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 | 105 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000269305 |
| Start | 7676096:7676096(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.273G>A |
| AA Mutation | p.Trp91Ter(p.W91*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 106 |
| 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 | 107 |
| 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 | 108 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000269305 |
| Start | 7675175:7675175(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.437G>A |
| AA Mutation | p.Trp146Ter(p.W146*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 109 |
| 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 | 110 |
| Mutation Consequence | stop_gained;frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7676210:7676211(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | null |
| CDS Mutation | c.155_158dupAATG |
| AA Mutation | p.Trp53Ter(p.W53*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 111 |
| Mutation Consequence | stop_gained;frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7670675:7670676(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | novel |
| CDS Mutation | c.1029_1033dupGCTGA |
| AA Mutation | p.Asn345SerfsTer2(p.N345Sfs*2) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 112 |
| 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 | 113 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000269305 |
| Start | 7673767:7673767(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.853G>T |
| AA Mutation | p.Glu285Ter(p.E285*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 114 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000269305 |
| Start | 7676088:7676088(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.281C>G |
| AA Mutation | p.Ser94Ter(p.S94*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 115 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000269305 |
| Start | 7674939:7674939(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.592G>T |
| AA Mutation | p.Glu198Ter(p.E198*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 116 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000269305 |
| Start | 7670685:7670685(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs730882029 |
| CDS Mutation | c.1024C>T |
| AA Mutation | p.Arg342Ter(p.R342*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 117 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000269305 |
| Start | 7675113:7675113(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.499C>T |
| AA Mutation | p.Gln167Ter(p.Q167*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 118 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000269305 |
| Start | 7674906:7674906(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.625A>T |
| AA Mutation | p.Arg209Ter(p.R209*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 119 |
| 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 |
| ID | 120 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7676077:7676078(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | novel |
| CDS Mutation | c.291_292insG |
| AA Mutation | p.Pro98AlafsTer51(p.P98Afs*51) |
| Mutation Classification | Frame_Shift_Ins |
| Feature Type | Transcript |
| ID | 121 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675224:7675225(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | novel |
| CDS Mutation | c.384_387dupTGCC |
| AA Mutation | p.Leu130CysfsTer20(p.L130Cfs*20) |
| Mutation Classification | Frame_Shift_Ins |
| Feature Type | Transcript |
| ID | 122 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000269305 |
| Start | 7675156:7675157(version: GRCh38) |
| Mutation Type | INS |
| dbSNP_RS | rs730882019 |
| CDS Mutation | c.455dupC |
| AA Mutation | p.Pro153AlafsTer28(p.P153Afs*28) |
| Mutation Classification | Frame_Shift_Ins |
| Feature Type | Transcript |