| Mutation ID |
13 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000396396 |
| Start |
68387500:68387500(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.609C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000396396 |
| Start |
68479513:68479513(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1255C>T |
| AA Mutation |
p.Arg419Ter(p.R419*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PGM5
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000396396 |
| Start |
68499293:68499293(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs782091421
|
| CDS Mutation |
c.1546C>T |
| AA Mutation |
p.Arg516Trp(p.R516W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000396396 |
| Start |
68391558:68391558(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.722T>G |
| AA Mutation |
p.Val241Gly(p.V241G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000396396 |
| Start |
68392385:68392385(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.955G>A |
| AA Mutation |
p.Ala319Thr(p.A319T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|