| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000231749 |
| Start |
50343350:50343350(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.467G>C |
| AA Mutation |
p.Gly156Ala(p.G156A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000231749 |
| Start |
50341815:50341815(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs143000634
|
| CDS Mutation |
c.1116G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000231749 |
| Start |
50342142:50342142(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.874-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |