Gene >> ADHFE1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000396623 |
| Start |
66445376:66445376(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.512G>A |
| AA Mutation |
p.Gly171Glu(p.G171E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000396623 |
| Start |
66460397:66460397(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1252G>C |
| AA Mutation |
p.Asp418His(p.D418H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |