| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000300213 |
| Start |
43194451:43194451(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.958G>T |
| AA Mutation |
p.Glu320Ter(p.E320*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000300213 |
| Start |
43192742:43192742(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.861-1G>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CCNDBP1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000300213 |
| Start |
43190327:43190327(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.431C>T |
| AA Mutation |
p.Pro144Leu(p.P144L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000300213 |
| Start |
43191590:43191590(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200466580
|
| CDS Mutation |
c.775C>T |
| AA Mutation |
p.Arg259Trp(p.R259W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000300213 |
| Start |
43192796:43192796(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776264677
|
| CDS Mutation |
c.914G>A |
| AA Mutation |
p.Arg305Gln(p.R305Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000300213 |
| Start |
43190098:43190098(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200360244
|
| CDS Mutation |
c.375C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|