| Mutation ID |
31 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000374708 |
| Start |
33166207:33166207(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4135-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
32 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000374708 |
| Start |
33186625:33186625(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.798+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> COL11A2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374708 |
| Start |
33179456:33179456(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1220G>A |
| AA Mutation |
p.Gly407Glu(p.G407E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374708 |
| Start |
33189460:33189460(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.92C>T |
| AA Mutation |
p.Pro31Leu(p.P31L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374708 |
| Start |
33175627:33175627(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2065G>A |
| AA Mutation |
p.Gly689Arg(p.G689R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374708 |
| Start |
33189129:33189129(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs543310995
|
| CDS Mutation |
c.292G>A |
| AA Mutation |
p.Ala98Thr(p.A98T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|