| Mutation ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262241 |
| Start |
102714453:102714453(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.894delA |
| AA Mutation |
p.Glu299LysfsTer40(p.E299Kfs*40) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000262241 |
| Start |
102708584:102708584(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.779+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> RCOR1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262241 |
| Start |
102722286:102722286(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1289G>A |
| AA Mutation |
p.Arg430His(p.R430H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262241 |
| Start |
102722273:102722273(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1276A>C |
| AA Mutation |
p.Asn426His(p.N426H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|