| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370751 |
| Start |
78637111:78637111(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.956T>C |
| AA Mutation |
p.Val319Ala(p.V319A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370751 |
| Start |
78641450:78641450(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1165A>G |
| AA Mutation |
p.Lys389Glu(p.K389E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370751 |
| Start |
78629771:78629771(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.579C>A |
| AA Mutation |
p.Asp193Glu(p.D193E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |