| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000291582 |
| Start |
44291182:44291182(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.967C>A |
| AA Mutation |
p.Leu323Met(p.L323M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000291582 |
| Start |
44293811:44293811(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1301G>A |
| AA Mutation |
p.Cys434Tyr(p.C434Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000291582 |
| Start |
44288344:44288344(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.539-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |