| Mutation ID |
20 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000265381 |
| Start |
69449775:69449775(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1990G>T |
| AA Mutation |
p.Gly664Ter(p.G664*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000265381 |
| Start |
69467955:69467955(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1350C>A |
| AA Mutation |
p.Cys450Ter(p.C450*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> APBA1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265381 |
| Start |
69449772:69449772(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1993G>C |
| AA Mutation |
p.Glu665Gln(p.E665Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265381 |
| Start |
69441107:69441107(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2190G>T |
| AA Mutation |
p.Lys730Asn(p.K730N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265381 |
| Start |
69452220:69452220(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs769199164
|
| CDS Mutation |
c.1870G>A |
| AA Mutation |
p.Glu624Lys(p.E624K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|