| Mutation ID |
18 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000258449 |
| Start |
105280382:105280382(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs771454202
|
| CDS Mutation |
c.1463delA |
| AA Mutation |
p.Lys488SerfsTer23(p.K488Sfs*23) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000258449 |
| Start |
105272873:105272873(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757045895
|
| CDS Mutation |
c.1954C>T |
| AA Mutation |
p.Arg652Ter(p.R652*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> TGFBRAP1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000258449 |
| Start |
105280538:105280538(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1307G>A |
| AA Mutation |
p.Arg436His(p.R436H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000258449 |
| Start |
105269670:105269670(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199861425
|
| CDS Mutation |
c.2008G>A |
| AA Mutation |
p.Ala670Thr(p.A670T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000258449 |
| Start |
105267499:105267499(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2467A>C |
| AA Mutation |
p.Asn823His(p.N823H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000258449 |
| Start |
105269439:105269439(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs376484055
|
| CDS Mutation |
c.2239G>A |
| AA Mutation |
p.Glu747Lys(p.E747K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000258449 |
| Start |
105308230:105308230(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs752744698
|
| CDS Mutation |
c.72C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|