| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000308893 |
| Start |
29977896:29977896(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.124G>A |
| AA Mutation |
p.Val42Ile(p.V42I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000308893 |
| Start |
29987473:29987473(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3201C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000308893 |
| Start |
29986263:29986263(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1993-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |