| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000523534 |
| Start |
31640590:31640590(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.165C>G |
| AA Mutation |
p.Asp55Glu(p.D55E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000405005 |
| Start |
32759321:32759321(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.946A>C |
| AA Mutation |
p.Asn316His(p.N316H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000405005 |
| Start |
32764072:32764072(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs576124928
|
| CDS Mutation |
c.1593C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |