| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310823 |
| Start |
9527812:9527812(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.593G>A |
| AA Mutation |
p.Gly198Glu(p.G198E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310823 |
| Start |
9535916:9535916(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.368C>A |
| AA Mutation |
p.Pro123His(p.P123H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310823 |
| Start |
9502190:9502190(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1631G>T |
| AA Mutation |
p.Gly544Val(p.G544V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |