| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000308893 |
| Start |
29985495:29985495(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1705C>A |
| AA Mutation |
p.Leu569Ile(p.L569I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000308893 |
| Start |
29986916:29986916(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2644G>A |
| AA Mutation |
p.Asp882Asn(p.D882N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000308893 |
| Start |
29987845:29987845(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs769111695
|
| CDS Mutation |
c.3573C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |