| Mutation ID |
29 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000274276 |
| Start |
38904505:38904505(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1285+2T>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
30 |
| Mutation Consequence |
protein_altering_variant |
| Transcription ID |
ENST00000274276 |
| Start |
38933440:38933441(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2936_2937insGGA |
| AA Mutation |
p.Cys979delinsTrpAsp(p.C979delinsWD) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> OSMR
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000274276 |
| Start |
38924460:38924460(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs528496507
|
| CDS Mutation |
c.1909A>G |
| AA Mutation |
p.Thr637Ala(p.T637A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000274276 |
| Start |
38924508:38924508(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778570517
|
| CDS Mutation |
c.1957C>T |
| AA Mutation |
p.Gln653Ter(p.Q653*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|