| Mutation ID |
13 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000408911 |
| Start |
216568099:216568099(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.590-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000408911 |
| Start |
216677375:216677376(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.170_172dupGCC |
| AA Mutation |
p.Ser57_Pro58insArg(p.S57_P58insR) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ESRRG
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000408911 |
| Start |
216519227:216519227(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1057G>T |
| AA Mutation |
p.Val353Leu(p.V353L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000408911 |
| Start |
216723244:216723244(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.56A>G |
| AA Mutation |
p.Glu19Gly(p.E19G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000408911 |
| Start |
216651011:216651011(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs777160519
|
| CDS Mutation |
c.551G>A |
| AA Mutation |
p.Arg184His(p.R184H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000408911 |
| Start |
216519206:216519206(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1078A>G |
| AA Mutation |
p.Lys360Glu(p.K360E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000408911 |
| Start |
216568050:216568050(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.638G>T |
| AA Mutation |
p.Arg213Met(p.R213M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000408911 |
| Start |
216519360:216519360(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.924T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000408911 |
| Start |
216651090:216651090(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.473-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|