| Mutation ID |
15 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000394688 |
| Start |
50350022:50350022(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.591+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000394688 |
| Start |
50350021:50350021(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.591+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> BRD7
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000394688 |
| Start |
50334841:50334841(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.757A>G |
| AA Mutation |
p.Thr253Ala(p.T253A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000394688 |
| Start |
50319244:50319244(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs749515135
|
| CDS Mutation |
c.1923G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000394688 |
| Start |
50319953:50319953(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs796065051
|
| CDS Mutation |
c.1834C>T |
| AA Mutation |
p.Arg612Ter(p.R612*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|