Primary Site >> Esophagus Cancer
Gene >> NOTCH3
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000263388 |
| Start | 15170440:15170440(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.5005C>T |
| AA Mutation | p.Arg1669Cys(p.R1669C) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000263388 |
| Start | 15189390:15189390(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1075C>A |
| AA Mutation | p.Pro359Thr(p.P359T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000263388 |
| Start | 15174363:15174363(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.4441G>T |
| AA Mutation | p.Asp1481Tyr(p.D1481Y) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000263388 |
| Start | 15181730:15181730(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.2638G>A |
| AA Mutation | p.Ala880Thr(p.A880T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000263388 |
| Start | 15177647:15177647(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.4281A>C |
| AA Mutation | p.Gln1427His(p.Q1427H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000263388 |
| Start | 15177678:15177678(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.4250G>C |
| AA Mutation | p.Cys1417Ser(p.C1417S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 7 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000263388 |
| Start | 15191629:15191629(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs145049433 |
| CDS Mutation | c.831G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 8 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000263388 |
| Start | 15192381:15192381(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.336C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 9 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000263388 |
| Start | 15187256:15187256(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs781266677 |
| CDS Mutation | c.1689C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 10 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000263388 |
| Start | 15191488:15191488(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs149725987 |
| CDS Mutation | c.972C>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 11 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000263388 |
| Start | 15161253:15161253(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.6375G>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 12 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000263388 |
| Start | 15178897:15178910(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.3750_3763delCGAGTCCCAGCCAT |
| AA Mutation | p.Cys1250TrpfsTer10(p.C1250Wfs*10) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |
| ID | 13 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000263388 |
| Start | 15181721:15181721(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.2647C>T |
| AA Mutation | p.Arg883Ter(p.R883*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 14 |
| Mutation Consequence | stop_gained |
| Transcription ID | ENST00000263388 |
| Start | 15180814:15180814(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.3009G>A |
| AA Mutation | p.Trp1003Ter(p.W1003*) |
| Mutation Classification | Nonsense_Mutation |
| Feature Type | Transcript |
| ID | 15 |
| Mutation Consequence | splice_acceptor_variant |
| Transcription ID | ENST00000263388 |
| Start | 15185680:15185680(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1952-1G>A |
| Mutation Classification | Splice_Site |
| Feature Type | Transcript |