| Mutation ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000343916 |
| Start |
62825828:62825828(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.647delC |
| AA Mutation |
p.Pro216LeufsTer317(p.P216Lfs*317) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000343916 |
| Start |
62830402:62830402(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1204C>T |
| AA Mutation |
p.Arg402Ter(p.R402*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> COL9A3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000343916 |
| Start |
62832169:62832169(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1303G>A |
| AA Mutation |
p.Ala435Thr(p.A435T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000343916 |
| Start |
62829675:62829675(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765090954
|
| CDS Mutation |
c.1101C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|