| ID |
1 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000262887 |
| Start |
43551654:43551654(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1116G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000262887 |
| Start |
43554712:43554712(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.348G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000262887 |
| Start |
43552084:43552084(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs574450911
|
| CDS Mutation |
c.1015C>T |
| AA Mutation |
p.Arg339Ter(p.R339*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |