| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000331340 |
| Start |
50382573:50382573(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.455C>T |
| AA Mutation |
p.Ala152Val(p.A152V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000331340 |
| Start |
50400602:50400602(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1535G>A |
| AA Mutation |
p.Gly512Glu(p.G512E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000331340 |
| Start |
50400249:50400249(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1182C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |