| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000293549 |
| Start |
48980598:48980598(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.533G>A |
| AA Mutation |
p.Arg178His(p.R178H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000293549 |
| Start |
48980565:48980565(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.500G>T |
| AA Mutation |
p.Trp167Leu(p.W167L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000293549 |
| Start |
48981331:48981331(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.804G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |