| ID |
3 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000563236 |
| Start |
56872786:56872786(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1095G>T |
| AA Mutation |
p.Lys365Asn(p.K365N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000563236 |
| Start |
56892955:56892955(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2422G>T |
| AA Mutation |
p.Asp808Tyr(p.D808Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000563236 |
| Start |
56870169:56870169(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs369387970
|
| CDS Mutation |
c.675C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |