| Mutation ID |
23 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000321612 |
| Start |
6587268:6587268(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1723G>T |
| AA Mutation |
p.Glu575Ter(p.E575*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
24 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000321612 |
| Start |
6540147:6540147(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2570-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> GLDC
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000321612 |
| Start |
6558671:6558671(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201135624
|
| CDS Mutation |
c.1940C>T |
| AA Mutation |
p.Pro647Leu(p.P647L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000321612 |
| Start |
6565391:6565391(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs763517274
|
| CDS Mutation |
c.1889G>A |
| AA Mutation |
p.Arg630Gln(p.R630Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000321612 |
| Start |
6604606:6604606(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1040G>T |
| AA Mutation |
p.Arg347Ile(p.R347I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000321612 |
| Start |
6588414:6588414(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1694C>T |
| AA Mutation |
p.Ser565Leu(p.S565L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000321612 |
| Start |
6533055:6533055(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3025G>T |
| AA Mutation |
p.Glu1009Ter(p.E1009*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|