Primary Site >> Esophagus Cancer
Gene >> IVL
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000368764 |
| Start | 152910315:152910315(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.518T>C |
| AA Mutation | p.Leu173Pro(p.L173P) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000368764 |
| Start | 152910242:152910242(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs200731333 |
| CDS Mutation | c.445A>G |
| AA Mutation | p.Lys149Glu(p.K149E) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000368764 |
| Start | 152910641:152910641(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.844C>A |
| AA Mutation | p.Gln282Lys(p.Q282K) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000368764 |
| Start | 152910552:152910552(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.755A>T |
| AA Mutation | p.Gln252Leu(p.Q252L) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000368764 |
| Start | 152910793:152910793(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.996A>C |
| AA Mutation | p.Gln332His(p.Q332H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000368764 |
| Start | 152910813:152910813(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1016A>G |
| AA Mutation | p.Gln339Arg(p.Q339R) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 7 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000368764 |
| Start | 152911114:152911114(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1317A>C |
| AA Mutation | p.Gln439His(p.Q439H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 8 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000368764 |
| Start | 152910795:152910795(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.998T>A |
| AA Mutation | p.Leu333Gln(p.L333Q) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 9 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000368764 |
| Start | 152910613:152910613(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.816G>T |
| AA Mutation | p.Gln272His(p.Q272H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 10 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000368764 |
| Start | 152910336:152910336(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.539A>G |
| AA Mutation | p.Glu180Gly(p.E180G) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 11 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000368764 |
| Start | 152910891:152910891(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1094T>A |
| AA Mutation | p.Leu365His(p.L365H) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 12 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000368764 |
| Start | 152910645:152910645(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.848T>C |
| AA Mutation | p.Leu283Pro(p.L283P) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 13 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000368764 |
| Start | 152910355:152910355(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs372740691 |
| CDS Mutation | c.558A>G |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 14 |
| Mutation Consequence | frameshift_variant |
| Transcription ID | ENST00000368764 |
| Start | 152909921:152909921(version: GRCh38) |
| Mutation Type | DEL |
| dbSNP_RS | novel |
| CDS Mutation | c.128delC |
| AA Mutation | p.Pro43HisfsTer22(p.P43Hfs*22) |
| Mutation Classification | Frame_Shift_Del |
| Feature Type | Transcript |