| Mutation ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000355196 |
| Start |
82856985:82856985(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1848delA |
| AA Mutation |
p.Lys616AsnfsTer18(p.K616Nfs*18) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000355196 |
| Start |
82857688:82857688(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1702+1delG |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SEC31A
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355196 |
| Start |
82842239:82842239(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs773198066
|
| CDS Mutation |
c.2869G>A |
| AA Mutation |
p.Gly957Arg(p.G957R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355196 |
| Start |
82864512:82864512(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1284C>A |
| AA Mutation |
p.Phe428Leu(p.F428L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355196 |
| Start |
82871986:82871986(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.740G>A |
| AA Mutation |
p.Arg247Gln(p.R247Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000355196 |
| Start |
82848807:82848807(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2499C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000355196 |
| Start |
82880903:82880903(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.99G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000355196 |
| Start |
82842153:82842153(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs752268746
|
| CDS Mutation |
c.2955G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|