| Mutation ID |
14 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000217305 |
| Start |
1980875:1980875(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.213delC |
| AA Mutation |
p.Ser72ProfsTer32(p.S72Pfs*32) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000217305 |
| Start |
1980595:1980595(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.493G>T |
| AA Mutation |
p.Glu165Ter(p.E165*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PDYN
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000217305 |
| Start |
1980450:1980450(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs373922212
|
| CDS Mutation |
c.638G>A |
| AA Mutation |
p.Arg213His(p.R213H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000217305 |
| Start |
1980666:1980666(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.422C>T |
| AA Mutation |
p.Ala141Val(p.A141V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000217305 |
| Start |
1980454:1980454(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201486601
|
| CDS Mutation |
c.634C>T |
| AA Mutation |
p.Arg212Trp(p.R212W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000217305 |
| Start |
1980445:1980445(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs267606939
|
| CDS Mutation |
c.643C>T |
| AA Mutation |
p.Arg215Cys(p.R215C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|