| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000308423 |
| Start |
42854582:42854582(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs151291423
|
| CDS Mutation |
c.1735G>A |
| AA Mutation |
p.Val579Met(p.V579M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000308423 |
| Start |
42852397:42852397(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs150410758
|
| CDS Mutation |
c.1054G>A |
| AA Mutation |
p.Val352Ile(p.V352I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000308423 |
| Start |
42852934:42852934(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1591G>A |
| AA Mutation |
p.Asp531Asn(p.D531N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |