| Mutation ID |
30 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000284322 |
| Start |
100780137:100780137(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2102delA |
| AA Mutation |
p.Lys701SerfsTer41(p.K701Sfs*41) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
31 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000284322 |
| Start |
100993304:100993304(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.100+2C>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ABI3BP
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000284322 |
| Start |
100993359:100993359(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.47T>A |
| AA Mutation |
p.Leu16His(p.L16H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000284322 |
| Start |
100770747:100770747(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2604C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000284322 |
| Start |
100902657:100902657(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs750938732
|
| CDS Mutation |
c.310C>T |
| AA Mutation |
p.Arg104Ter(p.R104*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|