| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000519728 |
| Start |
55999481:55999481(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1268A>C |
| AA Mutation |
p.Lys423Thr(p.K423T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000519728 |
| Start |
55952053:55952053(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.575G>A |
| AA Mutation |
p.Gly192Asp(p.G192D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000519728 |
| Start |
55966860:55966860(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.936G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |