| Mutation ID |
15 |
| Mutation Consequence |
stop_gained;splice_region_variant |
| Transcription ID |
ENST00000252699 |
| Start |
38701121:38701121(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.397G>T |
| AA Mutation |
p.Glu133Ter(p.E133*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000252699 |
| Start |
38714562:38714562(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.912+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ACTN4
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000252699 |
| Start |
38724050:38724050(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1665C>A |
| AA Mutation |
p.Phe555Leu(p.F555L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000252699 |
| Start |
38721629:38721629(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs750702920
|
| CDS Mutation |
c.1383C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000252699 |
| Start |
38708147:38708147(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.603G>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000252699 |
| Start |
38706108:38706108(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.549C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|