| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000462775 |
| Start |
178439441:178439441(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.250C>G |
| AA Mutation |
p.Leu84Val(p.L84V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000462775 |
| Start |
178458211:178458211(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2496A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000462775 |
| Start |
178439577:178439577(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.384+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |