| Mutation ID |
23 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000318003 |
| Start |
13926873:13926873(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2125+1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
24 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000318003 |
| Start |
13928123:13928123(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2455-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CC2D1A
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000318003 |
| Start |
13923453:13923453(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs747172992
|
| CDS Mutation |
c.1762G>A |
| AA Mutation |
p.Glu588Lys(p.E588K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000318003 |
| Start |
13927011:13927011(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2159G>A |
| AA Mutation |
p.Arg720His(p.R720H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000318003 |
| Start |
13927060:13927060(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs368632032
|
| CDS Mutation |
c.2208C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000318003 |
| Start |
13918146:13918146(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.825G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|