| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000267101 |
| Start |
56093446:56093446(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1376A>G |
| AA Mutation |
p.Asn459Ser(p.N459S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000267101 |
| Start |
56080324:56080324(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.24G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000267101 |
| Start |
56085100:56085100(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.340A>T |
| AA Mutation |
p.Lys114Ter(p.K114*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |