| Mutation ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000316981 |
| Start |
56167195:56167195(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.551delA |
| AA Mutation |
p.Lys184SerfsTer45(p.K184Sfs*45) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000316981 |
| Start |
56168027:56168027(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.242+1G>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PLAG1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000316981 |
| Start |
56167301:56167301(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.445G>A |
| AA Mutation |
p.Asp149Asn(p.D149N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000316981 |
| Start |
56168203:56168203(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs144724863
|
| CDS Mutation |
c.67C>T |
| AA Mutation |
p.Arg23Cys(p.R23C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000316981 |
| Start |
56167442:56167442(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.304C>A |
| AA Mutation |
p.His102Asn(p.H102N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000316981 |
| Start |
56167376:56167376(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs771690216
|
| CDS Mutation |
c.370G>A |
| AA Mutation |
p.Glu124Lys(p.E124K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|