| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000336812 |
| Start |
24529716:24529716(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2155G>A |
| AA Mutation |
p.Val719Ile(p.V719I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000336812 |
| Start |
24529618:24529618(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2253A>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000336812 |
| Start |
24576626:24576626(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.124C>T |
| AA Mutation |
p.Arg42Ter(p.R42*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |