| Mutation ID |
24 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000288221 |
| Start |
56434413:56434413(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.595G>T |
| AA Mutation |
p.Glu199Ter(p.E199*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
25 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000288221 |
| Start |
56434920:56434920(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs781402041
|
| CDS Mutation |
c.88C>T |
| AA Mutation |
p.Arg30Ter(p.R30*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ERC2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000288221 |
| Start |
56018919:56018919(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs576582327
|
| CDS Mutation |
c.1754C>T |
| AA Mutation |
p.Thr585Met(p.T585M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000288221 |
| Start |
55888511:55888511(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2442G>T |
| AA Mutation |
p.Gln814His(p.Q814H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000288221 |
| Start |
56173454:56173454(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs571267313
|
| CDS Mutation |
c.1141G>A |
| AA Mutation |
p.Glu381Lys(p.E381K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000288221 |
| Start |
56149107:56149107(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs767117758
|
| CDS Mutation |
c.1175G>A |
| AA Mutation |
p.Arg392Gln(p.R392Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000288221 |
| Start |
56080977:56080977(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200558529
|
| CDS Mutation |
c.1481C>T |
| AA Mutation |
p.Ala494Val(p.A494V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000288221 |
| Start |
55888399:55888399(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757576854
|
| CDS Mutation |
c.2554C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|