| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000340023 |
| Start |
51769565:51769565(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs373596683
|
| CDS Mutation |
c.907G>A |
| AA Mutation |
p.Val303Ile(p.V303I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000340023 |
| Start |
51768827:51768827(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs142611552
|
| CDS Mutation |
c.169C>T |
| AA Mutation |
p.Arg57Cys(p.R57C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000340023 |
| Start |
51769447:51769447(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.789G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |