| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000221996 |
| Start |
47834464:47834464(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs772745666
|
| CDS Mutation |
c.21G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000221996 |
| Start |
47839763:47839763(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.696G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CRX
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000221996 |
| Start |
47839716:47839716(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs146869548
|
| CDS Mutation |
c.649G>A |
| AA Mutation |
p.Gly217Ser(p.G217S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000221996 |
| Start |
47839518:47839518(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.451G>T |
| AA Mutation |
p.Gly151Cys(p.G151C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000221996 |
| Start |
47839837:47839837(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.770G>T |
| AA Mutation |
p.Ser257Ile(p.S257I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000221996 |
| Start |
47839648:47839648(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.581C>G |
| AA Mutation |
p.Thr194Ser(p.T194S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000221996 |
| Start |
47839755:47839755(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.692delG |
| AA Mutation |
p.Gly231AlafsTer140(p.G231Afs*140) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|