| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000279441 |
| Start |
102779575:102779575(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.276A>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000279441 |
| Start |
102779306:102779306(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.403A>T |
| AA Mutation |
p.Lys135Ter(p.K135*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000279441 |
| Start |
102772117:102772117(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1227-2A>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |