| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000391898 |
| Start |
48234491:48234491(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.262T>G |
| AA Mutation |
p.Phe88Val(p.F88V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000391898 |
| Start |
48234534:48234534(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.219G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CARD8
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000391898 |
| Start |
48230810:48230810(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs542641676
|
| CDS Mutation |
c.739G>A |
| AA Mutation |
p.Glu247Lys(p.E247K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000391898 |
| Start |
48221731:48221731(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1160A>C |
| AA Mutation |
p.Lys387Thr(p.K387T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|