| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296130 |
| Start |
45035694:45035694(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.379A>T |
| AA Mutation |
p.Asn127Tyr(p.N127Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296130 |
| Start |
45035818:45035818(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.503G>T |
| AA Mutation |
p.Gly168Val(p.G168V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000296130 |
| Start |
45035852:45035852(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.537G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |