| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361470 |
| Start |
76429262:76429262(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1332C>A |
| AA Mutation |
p.Asp444Glu(p.D444E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000361470 |
| Start |
76427990:76427990(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.60G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000361470 |
| Start |
76429470:76429470(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1540G>T |
| AA Mutation |
p.Glu514Ter(p.E514*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |