Gene >> GPAA1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355091 |
| Start |
144086093:144086093(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1834C>A |
| AA Mutation |
p.Leu612Met(p.L612M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355091 |
| Start |
144085951:144085951(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1692G>T |
| AA Mutation |
p.Trp564Cys(p.W564C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |