Gene >> PAEP
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000277508 |
| Start |
135562402:135562402(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs762512841
|
| CDS Mutation |
c.205G>A |
| AA Mutation |
p.Glu69Lys(p.E69K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000277508 |
| Start |
135562397:135562397(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.204delC |
| AA Mutation |
p.Glu69ArgfsTer67(p.E69Rfs*67) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |