| Mutation ID |
3 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000372447 |
| Start |
129834767:129834767(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs566348414
|
| CDS Mutation |
c.84-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000372447 |
| Start |
129829258:129829260(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.723_725delAGA |
| AA Mutation |
p.Glu242del(p.E242del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> C9orf78
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372447 |
| Start |
129828191:129828191(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.840G>T |
| AA Mutation |
p.Glu280Asp(p.E280D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|