| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000335568 |
| Start |
69281022:69281022(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs369837892
|
| CDS Mutation |
c.522C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000335568 |
| Start |
69281212:69281212(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.712G>T |
| AA Mutation |
p.Glu238Ter(p.E238*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> UGT2B28
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000335568 |
| Start |
69294544:69294544(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1325T>C |
| AA Mutation |
p.Val442Ala(p.V442A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000335568 |
| Start |
69280902:69280902(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.402G>T |
| AA Mutation |
p.Lys134Asn(p.K134N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000335568 |
| Start |
69290812:69290812(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs759599479
|
| CDS Mutation |
c.1310+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|