| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377103 |
| Start |
23048233:23048233(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1272C>A |
| AA Mutation |
p.Ser424Arg(p.S424R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000377103 |
| Start |
23048425:23048425(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1080C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000377103 |
| Start |
23048293:23048293(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1212C>A |
| AA Mutation |
p.Cys404Ter(p.C404*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |