| Mutation ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000356554 |
| Start |
117499531:117499531(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1654C>T |
| AA Mutation |
p.Gln552Ter(p.Q552*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000356554 |
| Start |
117402283:117402283(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.400C>T |
| AA Mutation |
p.Arg134Ter(p.R134*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MAN1A2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356554 |
| Start |
117420603:117420603(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs760445211
|
| CDS Mutation |
c.809G>A |
| AA Mutation |
p.Arg270Gln(p.R270Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000356554 |
| Start |
117420602:117420602(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.808C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000356554 |
| Start |
117402217:117402217(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.334C>T |
| AA Mutation |
p.Arg112Ter(p.R112*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|