| Mutation ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000374552 |
| Start |
70033400:70033400(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.796C>A |
| AA Mutation |
p.Leu266Ile(p.L266I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374552 |
| Start |
70035362:70035362(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.929A>G |
| AA Mutation |
p.Tyr310Cys(p.Y310C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> EDA
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374552 |
| Start |
70027860:70027860(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.530A>G |
| AA Mutation |
p.Lys177Arg(p.K177R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374552 |
| Start |
69957127:69957127(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.497C>T |
| AA Mutation |
p.Ala166Val(p.A166V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374552 |
| Start |
69957106:69957106(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.476G>T |
| AA Mutation |
p.Arg159Ile(p.R159I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000374552 |
| Start |
69616666:69616666(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.358G>T |
| AA Mutation |
p.Glu120Ter(p.E120*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|