| Mutation ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000444739 |
| Start |
104954983:104954983(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.26delA |
| AA Mutation |
p.Lys9SerfsTer27(p.K9Sfs*27) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000444739 |
| Start |
104954898:104954898(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.111G>A |
| AA Mutation |
p.Trp37Ter(p.W37*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CASP4
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000444739 |
| Start |
104954747:104954747(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.262G>T |
| AA Mutation |
p.Ala88Ser(p.A88S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000444739 |
| Start |
104954880:104954880(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.129G>T |
| AA Mutation |
p.Lys43Asn(p.K43N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000444739 |
| Start |
104951997:104951997(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.271A>G |
| AA Mutation |
p.Asn91Asp(p.N91D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000444739 |
| Start |
104949763:104949763(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs538762722
|
| CDS Mutation |
c.561G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|