| Mutation ID |
5 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000357637 |
| Start |
62106787:62106787(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs769906843
|
| CDS Mutation |
c.1767+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000357637 |
| Start |
62154592:62154593(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.501_502insTTCAAA |
| AA Mutation |
p.Gly167_Ala168insPheLys(p.G167_A168insFK) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PIGN
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000357637 |
| Start |
62157131:62157131(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.440A>C |
| AA Mutation |
p.Lys147Thr(p.K147T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357637 |
| Start |
62106862:62106862(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201835155
|
| CDS Mutation |
c.1694G>A |
| AA Mutation |
p.Arg565His(p.R565H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000357637 |
| Start |
62157778:62157778(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.252C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|