| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000200557 |
| Start |
44777719:44777719(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200119739
|
| CDS Mutation |
c.1926C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000200557 |
| Start |
44759758:44759758(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.104delG |
| AA Mutation |
p.Gly35AlafsTer52(p.G35Afs*52) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000200557 |
| Start |
44771755:44771755(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.468-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |