| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381474 |
| Start |
18529541:18529541(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1766G>T |
| AA Mutation |
p.Gly589Val(p.G589V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381474 |
| Start |
18520826:18520826(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs759016851
|
| CDS Mutation |
c.2212G>A |
| AA Mutation |
p.Val738Met(p.V738M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381474 |
| Start |
18538599:18538599(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776966148
|
| CDS Mutation |
c.1147C>A |
| AA Mutation |
p.His383Asn(p.H383N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |