| Mutation ID |
18 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000576479 |
| Start |
14260659:14260659(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1903C>T |
| AA Mutation |
p.Arg635Ter(p.R635*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000576479 |
| Start |
14260753:14260753(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs782554437
|
| CDS Mutation |
c.1996+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SPON1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000576479 |
| Start |
14262927:14262927(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs782356380
|
| CDS Mutation |
c.2212C>T |
| AA Mutation |
p.Arg738Trp(p.R738W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000576479 |
| Start |
14075402:14075402(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.537G>T |
| AA Mutation |
p.Lys179Asn(p.K179N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000576479 |
| Start |
14256655:14256655(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1272T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000576479 |
| Start |
14135560:14135560(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs782051365
|
| CDS Mutation |
c.817C>T |
| AA Mutation |
p.Arg273Ter(p.R273*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|