| Mutation ID |
20 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000400345 |
| Start |
58323260:58323260(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.439C>T |
| AA Mutation |
p.Arg147Ter(p.R147*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000400345 |
| Start |
58383309:58383309(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2416G>T |
| AA Mutation |
p.Glu806Ter(p.E806*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NEDD4L
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000400345 |
| Start |
58390664:58390664(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2674G>A |
| AA Mutation |
p.Ala892Thr(p.A892T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000400345 |
| Start |
58366041:58366041(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1876A>C |
| AA Mutation |
p.Asn626His(p.N626H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000400345 |
| Start |
58367783:58367783(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2101C>G |
| AA Mutation |
p.Leu701Val(p.L701V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000400345 |
| Start |
58343058:58343058(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199582650
|
| CDS Mutation |
c.1530C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|