| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000613252 |
| Start |
71489085:71489085(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1634A>G |
| AA Mutation |
p.His545Arg(p.H545R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000613252 |
| Start |
71557050:71557050(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1544A>T |
| AA Mutation |
p.Glu515Val(p.E515V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000613252 |
| Start |
71572922:71572922(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1217A>G |
| AA Mutation |
p.Asn406Ser(p.N406S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |