| Mutation ID |
11 |
| Mutation Consequence |
stop_gained;inframe_insertion |
| Transcription ID |
ENST00000312521 |
| Start |
23977308:23977309(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1629_1630insAGGATAAATTATTAA |
| AA Mutation |
p.Asn543_His544insArgIleAsnTyrTer(p.N543_H544insRINY*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000312521 |
| Start |
23956036:23956036(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.284-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NR1D2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312521 |
| Start |
23954725:23954725(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.205A>C |
| AA Mutation |
p.Asn69His(p.N69H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312521 |
| Start |
23967944:23967944(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1464A>C |
| AA Mutation |
p.Glu488Asp(p.E488D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312521 |
| Start |
23959810:23959810(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.512G>T |
| AA Mutation |
p.Arg171Ile(p.R171I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312521 |
| Start |
23962326:23962326(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.867G>T |
| AA Mutation |
p.Lys289Asn(p.K289N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000312521 |
| Start |
23956083:23956083(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs144648705
|
| CDS Mutation |
c.330G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000312521 |
| Start |
23962269:23962269(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.810G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|