| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324501 |
| Start |
73148099:73148099(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs149562759
|
| CDS Mutation |
c.80G>A |
| AA Mutation |
p.Arg27His(p.R27H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324501 |
| Start |
73192832:73192832(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.737C>T |
| AA Mutation |
p.Ala246Val(p.A246V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PSEN1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324501 |
| Start |
73170998:73170998(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs63750852
|
| CDS Mutation |
c.289G>A |
| AA Mutation |
p.Val97Met(p.V97M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000324501 |
| Start |
73206426:73206426(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs377053325
|
| CDS Mutation |
c.909G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|