| Mutation ID |
15 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000378037 |
| Start |
52474011:52474011(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1735delA |
| AA Mutation |
p.Thr579ProfsTer11(p.T579Pfs*11) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000378037 |
| Start |
52461623:52461631(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.800_808delCTGTGAAAC |
| AA Mutation |
p.Thr267_Gln270delinsLys(p.T267_Q270delinsK) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CKAP2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378037 |
| Start |
52462555:52462555(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1296C>A |
| AA Mutation |
p.Asn432Lys(p.N432K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|