| Mutation ID |
14 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000371566 |
| Start |
52383871:52383871(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1822C>T |
| AA Mutation |
p.Arg608Ter(p.R608*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000371566 |
| Start |
52389215:52389215(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1187+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ORC1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371566 |
| Start |
52388524:52388524(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs747995537
|
| CDS Mutation |
c.1301G>A |
| AA Mutation |
p.Arg434Lys(p.R434K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371566 |
| Start |
52393540:52393540(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.985G>T |
| AA Mutation |
p.Asp329Tyr(p.D329Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371566 |
| Start |
52375541:52375541(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2192A>G |
| AA Mutation |
p.Glu731Gly(p.E731G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|