| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000300589 |
| Start |
50716925:50716925(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2581C>T |
| AA Mutation |
p.His861Tyr(p.H861Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000300589 |
| Start |
50711499:50711499(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1588T>C |
| AA Mutation |
p.Ser530Pro(p.S530P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000300589 |
| Start |
50710715:50710715(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.804C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |