| Mutation ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000408990 |
| Start |
56804331:56804331(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.106delC |
| AA Mutation |
p.Arg36GlyfsTer15(p.R36Gfs*15) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000408990 |
| Start |
56804235:56804235(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.202C>T |
| AA Mutation |
p.Arg68Ter(p.R68*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> OTX2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000408990 |
| Start |
56801796:56801796(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.809T>G |
| AA Mutation |
p.Phe270Cys(p.F270C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000408990 |
| Start |
56802340:56802340(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.265C>T |
| AA Mutation |
p.Arg89Ter(p.R89*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|