| Mutation ID |
14 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000257198 |
| Start |
31140097:31140097(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1465G>T |
| AA Mutation |
p.Glu489Ter(p.E489*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000257198 |
| Start |
31139785:31139786(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1625dupA |
| AA Mutation |
p.Asn542LysfsTer28(p.N542Kfs*28) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> DSC1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000257198 |
| Start |
31131781:31131781(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs781031026
|
| CDS Mutation |
c.2300G>A |
| AA Mutation |
p.Gly767Asp(p.G767D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000257198 |
| Start |
31131596:31131596(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs774457500
|
| CDS Mutation |
c.2485G>A |
| AA Mutation |
p.Glu829Lys(p.E829K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000257198 |
| Start |
31133945:31133945(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2062A>C |
| AA Mutation |
p.Ile688Leu(p.I688L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000257198 |
| Start |
31134710:31134710(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1738G>T |
| AA Mutation |
p.Glu580Ter(p.E580*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|