| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000421577 |
| Start |
20364357:20364357(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs768795320
|
| CDS Mutation |
c.120G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000421577 |
| Start |
20382202:20382202(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.466G>T |
| AA Mutation |
p.Glu156Ter(p.E156*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000421577 |
| Start |
20376578:20376578(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs748008659
|
| CDS Mutation |
c.304-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |