| Mutation ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000375471 |
| Start |
17237327:17237327(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1327C>T |
| AA Mutation |
p.Gln443Ter(p.Q443*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
stop_lost |
| Transcription ID |
ENST00000375471 |
| Start |
17244243:17244243(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1992A>T |
| AA Mutation |
p.Ter664CysextTer13(p.*664Cext*13) |
| Mutation Classification |
Nonstop_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PADI1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375471 |
| Start |
17226112:17226112(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.606C>A |
| AA Mutation |
p.Asn202Lys(p.N202K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375471 |
| Start |
17230126:17230126(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.971A>G |
| AA Mutation |
p.Asp324Gly(p.D324G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375471 |
| Start |
17240654:17240654(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs140750531
|
| CDS Mutation |
c.1652G>A |
| AA Mutation |
p.Arg551His(p.R551H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375471 |
| Start |
17228712:17228712(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.740T>A |
| AA Mutation |
p.Ile247Asn(p.I247N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|