Primary Site >> Esophagus Cancer
Gene >> KMT2B
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000420124 |
| Start | 35721573:35721573(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.2226G>T |
| AA Mutation | p.Gln742His(p.Q742H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000420124 |
| Start | 35720959:35720959(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs747570960 |
| CDS Mutation | c.1612C>T |
| AA Mutation | p.Arg538Cys(p.R538C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000420124 |
| Start | 35738355:35738355(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.7946G>A |
| AA Mutation | p.Arg2649His(p.R2649H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000420124 |
| Start | 35721759:35721759(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.2412C>G |
| AA Mutation | p.Phe804Leu(p.F804L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000420124 |
| Start | 35736916:35736916(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs775984460 |
| CDS Mutation | c.7302G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000420124 |
| Start | 35721513:35721513(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs368953229 |
| CDS Mutation | c.2166C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 7 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000420124 |
| Start | 35727196:35727196(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs761407686 |
| CDS Mutation | c.4044C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 8 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000420124 |
| Start | 35720418:35720418(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.1072delG |
| AA Mutation | p.Glu358AsnfsTer29(p.E358Nfs*29) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 9 |
| Mutation Consequence | frameshift_variant;splice_region_variant |
| Transcription ID | ENST00000420124 |
| Start | 35723447:35723447(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.3003delA |
| AA Mutation | p.Tyr1002ThrfsTer7(p.Y1002Tfs*7) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 10 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000420124 |
| Start | 35736809:35736809(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.7279G>T |
| AA Mutation | p.Glu2427Ter(p.E2427*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 11 |
| Mutation Consequence | inframe_deletion |
| Transcription ID | ENST00000420124 |
| Start | 35732403:35732408(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.5856_5861delACCTAC |
| AA Mutation | p.Pro1953_Thr1954del(p.P1953_T1954del) |
| Mutation Classification | In_Frame_Del |
| Feature Type | Transcript |