| Mutation ID |
20 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000354624 |
| Start |
69239078:69239078(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs748281031
|
| CDS Mutation |
c.532C>T |
| AA Mutation |
p.Arg178Ter(p.R178*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000354624 |
| Start |
69266732:69266732(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2729T>A |
| AA Mutation |
p.Leu910Ter(p.L910*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> HKDC1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000354624 |
| Start |
69257399:69257399(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2005C>T |
| AA Mutation |
p.Pro669Ser(p.P669S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000354624 |
| Start |
69261266:69261266(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2344G>A |
| AA Mutation |
p.Glu782Lys(p.E782K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000354624 |
| Start |
69243321:69243321(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs781722757
|
| CDS Mutation |
c.831C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|