| Mutation ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000326587 |
| Start |
51895490:51895490(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.483C>G |
| AA Mutation |
p.Tyr161Ter(p.Y161*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000326587 |
| Start |
51897051:51897051(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1396C>T |
| AA Mutation |
p.Arg466Ter(p.R466*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MAGED1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000326587 |
| Start |
51895525:51895525(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.518C>A |
| AA Mutation |
p.Ala173Asp(p.A173D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000326587 |
| Start |
51900205:51900205(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1868C>T |
| AA Mutation |
p.Pro623Leu(p.P623L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000326587 |
| Start |
51901646:51901646(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs147478214
|
| CDS Mutation |
c.2053G>A |
| AA Mutation |
p.Glu685Lys(p.E685K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|