| Mutation ID |
12 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000039007 |
| Start |
38409017:38409018(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.859_860insAATAACTT |
| AA Mutation |
p.Thr287LysfsTer2(p.T287Kfs*2) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000039007 |
| Start |
38408741:38408741(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.664-1G>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> OTC
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000039007 |
| Start |
38369854:38369854(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs66550389
|
| CDS Mutation |
c.275G>A |
| AA Mutation |
p.Arg92Gln(p.R92Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000039007 |
| Start |
38401421:38401421(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs72556284
|
| CDS Mutation |
c.533C>T |
| AA Mutation |
p.Thr178Met(p.T178M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000039007 |
| Start |
38352733:38352733(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.37G>C |
| AA Mutation |
p.Ala13Pro(p.A13P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|