| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000282570 |
| Start |
69839496:69839496(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.424G>A |
| AA Mutation |
p.Glu142Lys(p.E142K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000282570 |
| Start |
69878990:69878991(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1541dupA |
| AA Mutation |
p.Asn515GlufsTer22(p.N515Efs*22) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> GMCL1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000282570 |
| Start |
69849728:69849728(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.920C>A |
| AA Mutation |
p.Ser307Tyr(p.S307Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000282570 |
| Start |
69844138:69844138(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.700G>T |
| AA Mutation |
p.Glu234Ter(p.E234*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|