| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358746 |
| Start |
95523746:95523746(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1541G>A |
| AA Mutation |
p.Arg514His(p.R514H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358746 |
| Start |
95490986:95490986(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs148969228
|
| CDS Mutation |
c.3853A>G |
| AA Mutation |
p.Lys1285Glu(p.K1285E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000358746 |
| Start |
95523308:95523308(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1651C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |