| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000233997 |
| Start |
830738:830738(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs376150747
|
| CDS Mutation |
c.391G>A |
| AA Mutation |
p.Val131Met(p.V131M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000233997 |
| Start |
828274:828274(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.103C>T |
| AA Mutation |
p.Pro35Ser(p.P35S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000233997 |
| Start |
829667:829667(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757880401
|
| CDS Mutation |
c.321C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |