| Mutation ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000312239 |
| Start |
20747638:20747638(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1159delA |
| AA Mutation |
p.Thr387ProfsTer86(p.T387Pfs*86) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000312239 |
| Start |
20745541:20745541(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1367+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
splice_donor_variant;coding_sequence_variant;intron_variant |
| Transcription ID |
ENST00000312239 |
| Start |
20773398:20773519(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.442_510+53delCAGAAACAAACACCGATGGCTTCTTCCCCACGTCCCAAGATGGATGCAATCTTAACTGAGGCCATTAAGGCAAGTTTTTATTTCAAGCAATTCATCTTAGATTTATTATGTTCATTTTTTTC |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> HP1BP3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312239 |
| Start |
20780436:20780436(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs746447362
|
| CDS Mutation |
c.5C>T |
| AA Mutation |
p.Ala2Val(p.A2V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|