| Mutation ID |
19 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000376840 |
| Start |
101151141:101151141(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.113delG |
| AA Mutation |
p.Gly38AlafsTer40(p.G38Afs*40) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000376840 |
| Start |
101050471:101050471(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.757C>T |
| AA Mutation |
p.Arg253Ter(p.R253*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> TBC1D8
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000376840 |
| Start |
101037692:101037692(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1247A>C |
| AA Mutation |
p.His416Pro(p.H416P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000376840 |
| Start |
101022353:101022353(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs749270956
|
| CDS Mutation |
c.2644G>A |
| AA Mutation |
p.Glu882Lys(p.E882K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000376840 |
| Start |
101037592:101037592(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1347C>G |
| AA Mutation |
p.His449Gln(p.H449Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000376840 |
| Start |
101037700:101037700(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1239C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|