| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000263932 |
| Start |
12104435:12104435(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs148756853
|
| CDS Mutation |
c.325C>T |
| AA Mutation |
p.Arg109Ter(p.R109*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000263932 |
| Start |
12104429:12104429(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.319G>T |
| AA Mutation |
p.Glu107Ter(p.E107*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000263932 |
| Start |
12135587:12135587(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1310-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |