| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000335606 |
| Start |
34005792:34005792(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.355T>A |
| AA Mutation |
p.Leu119Ile(p.L119I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000335606 |
| Start |
33989197:33989197(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1045C>T |
| AA Mutation |
p.His349Tyr(p.H349Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000335606 |
| Start |
33989360:33989360(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.882G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |