| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000547848 |
| Start |
19416304:19416304(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1181A>G |
| AA Mutation |
p.Glu394Gly(p.E394G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000547848 |
| Start |
19424194:19424194(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1026A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000547848 |
| Start |
19413367:19413367(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1396G>T |
| AA Mutation |
p.Glu466Ter(p.E466*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |