| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000383671 |
| Start |
114295690:114295690(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.207T>G |
| AA Mutation |
p.Cys69Trp(p.C69W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000383671 |
| Start |
114295689:114295689(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.206G>T |
| AA Mutation |
p.Cys69Phe(p.C69F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000383671 |
| Start |
114295544:114295544(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.62-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |