| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000330387 |
| Start |
137882603:137882603(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs149450359
|
| CDS Mutation |
c.1296C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
start_lost |
| Transcription ID |
ENST00000330387 |
| Start |
138001703:138001703(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3G>A |
| AA Mutation |
p.Met1?(p.M1?) |
| Mutation Classification |
Translation_Start_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CREB3L2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000330387 |
| Start |
137903995:137903995(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.938G>T |
| AA Mutation |
p.Arg313Ile(p.R313I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000330387 |
| Start |
137915912:137915912(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs147928164
|
| CDS Mutation |
c.420G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000330387 |
| Start |
137882457:137882458(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1441_1442insTATTTGAGAATTTGGCTACTTGCTGATATTTATTTGTCACCCTA |
| AA Mutation |
p.Glu481ValfsTer9(p.E481Vfs*9) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|