| Mutation ID |
23 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000338382 |
| Start |
20789598:20789599(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1445_1446insC |
| AA Mutation |
p.Ser483PhefsTer25(p.S483Ffs*25) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
24 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000338382 |
| Start |
20865924:20865924(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2056-2A>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> FOCAD
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000338382 |
| Start |
20740296:20740296(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.348A>C |
| AA Mutation |
p.Glu116Asp(p.E116D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000338382 |
| Start |
20820346:20820346(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778930504
|
| CDS Mutation |
c.1583G>A |
| AA Mutation |
p.Arg528Gln(p.R528Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000338382 |
| Start |
20929414:20929414(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs775718721
|
| CDS Mutation |
c.3135G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000338382 |
| Start |
20770224:20770224(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.892G>T |
| AA Mutation |
p.Glu298Ter(p.E298*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|