| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380013 |
| Start |
105276091:105276091(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5581G>A |
| AA Mutation |
p.Gly1861Arg(p.G1861R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380013 |
| Start |
105236023:105236023(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2081T>G |
| AA Mutation |
p.Leu694Arg(p.L694R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380013 |
| Start |
105269698:105269698(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765853421
|
| CDS Mutation |
c.4133G>A |
| AA Mutation |
p.Cys1378Tyr(p.C1378Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |