| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000339986 |
| Start |
246987254:246987254(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1261T>C |
| AA Mutation |
p.Ser421Pro(p.S421P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000339986 |
| Start |
246999353:246999353(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.254A>G |
| AA Mutation |
p.His85Arg(p.H85R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000339986 |
| Start |
246987525:246987525(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.990C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |