| Mutation ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000477717 |
| Start |
77044454:77044454(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.515delG |
| AA Mutation |
p.Gly172AlafsTer21(p.G172Afs*21) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000477717 |
| Start |
77063138:77063138(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.948delT |
| AA Mutation |
p.Gln317AsnfsTer11(p.Q317Nfs*11) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ST6GALNAC5
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000477717 |
| Start |
77044345:77044345(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs759920866
|
| CDS Mutation |
c.403G>A |
| AA Mutation |
p.Val135Met(p.V135M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000477717 |
| Start |
77044573:77044573(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs745998079
|
| CDS Mutation |
c.631C>A |
| AA Mutation |
p.Gln211Lys(p.Q211K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000477717 |
| Start |
77063203:77063203(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1008C>A |
| AA Mutation |
p.Phe336Leu(p.F336L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000477717 |
| Start |
77044274:77044274(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.332G>A |
| AA Mutation |
p.Gly111Asp(p.G111D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000477717 |
| Start |
77044474:77044474(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.532C>T |
| AA Mutation |
p.Arg178Trp(p.R178W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000477717 |
| Start |
77044425:77044425(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs769598284
|
| CDS Mutation |
c.483C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|