| Mutation ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000221498 |
| Start |
49365522:49365522(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.200delG |
| AA Mutation |
p.Gly67AlafsTer2(p.G67Afs*2) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000221498 |
| Start |
49365546:49365546(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.225delC |
| AA Mutation |
p.Met76TrpfsTer34(p.M76Wfs*34) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> DKKL1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000221498 |
| Start |
49374901:49374901(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs369639830
|
| CDS Mutation |
c.602G>A |
| AA Mutation |
p.Arg201Gln(p.R201Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000221498 |
| Start |
49365589:49365589(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.264G>T |
| AA Mutation |
p.Glu88Asp(p.E88D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000221498 |
| Start |
49374822:49374822(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs752690061
|
| CDS Mutation |
c.523C>T |
| AA Mutation |
p.Pro175Ser(p.P175S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000221498 |
| Start |
49365643:49365643(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.318C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|