| Mutation ID |
15 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000020673 |
| Start |
102416440:102416440(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.599delC |
| AA Mutation |
p.Pro200LeufsTer17(p.P200Lfs*17) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000020673 |
| Start |
102411746:102411746(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1903C>T |
| AA Mutation |
p.Arg635Ter(p.R635*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PSD
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000020673 |
| Start |
102415199:102415199(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.788C>A |
| AA Mutation |
p.Ser263Tyr(p.S263Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000020673 |
| Start |
102416827:102416827(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs774485946
|
| CDS Mutation |
c.212G>A |
| AA Mutation |
p.Arg71His(p.R71H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000020673 |
| Start |
102413919:102413919(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1403C>A |
| AA Mutation |
p.Ser468Tyr(p.S468Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000020673 |
| Start |
102413993:102413993(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs774484666
|
| CDS Mutation |
c.1329G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|