| Mutation ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000399682 |
| Start |
1621984:1621984(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.110delG |
| AA Mutation |
p.Gly37AlafsTer201(p.G37Afs*201) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000399682 |
| Start |
1621825:1621825(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs757054967
|
| CDS Mutation |
c.269delG |
| AA Mutation |
p.Gly90AlafsTer148(p.G90Afs*148) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> KRTAP5-4
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399682 |
| Start |
1621520:1621520(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.574C>T |
| AA Mutation |
p.Pro192Ser(p.P192S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000399682 |
| Start |
1621736:1621741(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.353_358delAGGGGG |
| AA Mutation |
p.Lys118_Gly120delinsSer(p.K118_G120delinsS) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
|