| Mutation ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000394412 |
| Start |
89649052:89649052(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.845delT |
| AA Mutation |
p.Leu282ArgfsTer40(p.L282Rfs*40) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000394412 |
| Start |
89633715:89633715(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2563G>T |
| AA Mutation |
p.Glu855Ter(p.E855*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> KIF7
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000394412 |
| Start |
89645419:89645419(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1955G>A |
| AA Mutation |
p.Gly652Glu(p.G652E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000394412 |
| Start |
89629525:89629525(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3367G>A |
| AA Mutation |
p.Glu1123Lys(p.E1123K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000394412 |
| Start |
89633805:89633805(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs558861570
|
| CDS Mutation |
c.2473G>A |
| AA Mutation |
p.Glu825Lys(p.E825K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|