| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000309100 |
| Start |
65613245:65613245(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.512T>A |
| AA Mutation |
p.Leu171Gln(p.L171Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000309100 |
| Start |
65598393:65598393(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2442C>A |
| AA Mutation |
p.Asp814Glu(p.D814E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000309100 |
| Start |
65599539:65599539(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2061G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |