| Mutation ID |
28 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000404547 |
| Start |
82358738:82358738(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.824-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
29 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000404547 |
| Start |
82984782:82984782(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1584-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NRG3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000404547 |
| Start |
82979077:82979077(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs564020344
|
| CDS Mutation |
c.1540G>A |
| AA Mutation |
p.Glu514Lys(p.E514K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000404547 |
| Start |
81876163:81876163(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs772528913
|
| CDS Mutation |
c.823C>T |
| AA Mutation |
p.His275Tyr(p.H275Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000404547 |
| Start |
82985365:82985365(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1923C>A |
| AA Mutation |
p.Ser641Arg(p.S641R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000404547 |
| Start |
81876022:81876022(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.682G>T |
| AA Mutation |
p.Ala228Ser(p.A228S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000404547 |
| Start |
82865433:82865433(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1050C>A |
| AA Mutation |
p.Phe350Leu(p.F350L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000404547 |
| Start |
81875744:81875744(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.404C>T |
| AA Mutation |
p.Thr135Met(p.T135M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|