| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000264982 |
| Start |
138537287:138537287(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.526C>T |
| AA Mutation |
p.Gln176Ter(p.Q176*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000264982 |
| Start |
138570316:138570316(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.465+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CEP70
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264982 |
| Start |
138532539:138532539(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.667A>G |
| AA Mutation |
p.Lys223Glu(p.K223E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264982 |
| Start |
138529212:138529212(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.856G>T |
| AA Mutation |
p.Asp286Tyr(p.D286Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000264982 |
| Start |
138498086:138498086(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs758222104
|
| CDS Mutation |
c.1677C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|