| Mutation ID |
19 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000344721 |
| Start |
148436131:148436131(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.730C>T |
| AA Mutation |
p.Arg244Ter(p.R244*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000344721 |
| Start |
148120218:148120218(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2581C>T |
| AA Mutation |
p.Arg861Ter(p.R861*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NR3C2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344721 |
| Start |
148436329:148436329(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs375487193
|
| CDS Mutation |
c.532C>T |
| AA Mutation |
p.Arg178Cys(p.R178C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344721 |
| Start |
148436809:148436809(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs773405588
|
| CDS Mutation |
c.52C>T |
| AA Mutation |
p.Arg18Trp(p.R18W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344721 |
| Start |
148260106:148260106(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs552665133
|
| CDS Mutation |
c.1769G>A |
| AA Mutation |
p.Arg590Gln(p.R590Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344721 |
| Start |
148435470:148435470(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1391A>G |
| AA Mutation |
p.Lys464Arg(p.K464R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344721 |
| Start |
148436495:148436495(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.366G>T |
| AA Mutation |
p.Gln122His(p.Q122H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000344721 |
| Start |
148081410:148081410(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2889C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|