| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000303450 |
| Start |
54000388:54000388(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.200C>T |
| AA Mutation |
p.Ala67Val(p.A67V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000303450 |
| Start |
54000719:54000719(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.531G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000303450 |
| Start |
54002588:54002588(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.697G>T |
| AA Mutation |
p.Glu233Ter(p.E233*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |