| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000395782 |
| Start |
17522371:17522371(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs756474306
|
| CDS Mutation |
c.118C>T |
| AA Mutation |
p.Arg40Cys(p.R40C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000395782 |
| Start |
17506296:17506296(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.473C>T |
| AA Mutation |
p.Ala158Val(p.A158V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PEMT
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000395782 |
| Start |
17522356:17522356(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.133G>C |
| AA Mutation |
p.Ala45Pro(p.A45P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000395782 |
| Start |
17505841:17505841(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.550A>C |
| AA Mutation |
p.Thr184Pro(p.T184P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000255389 |
| Start |
17591561:17591561(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs375814179
|
| CDS Mutation |
c.66C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000395782 |
| Start |
17509535:17509535(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs564981683
|
| CDS Mutation |
c.366C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|