| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000331340 |
| Start |
50400521:50400521(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1454G>T |
| AA Mutation |
p.Gly485Val(p.G485V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000331340 |
| Start |
50376753:50376753(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.381C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000331340 |
| Start |
50387377:50387377(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.622C>T |
| AA Mutation |
p.Arg208Ter(p.R208*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |