| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000301015 |
| Start |
88736212:88736212(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1493C>A |
| AA Mutation |
p.Pro498His(p.P498H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000301015 |
| Start |
88736211:88736211(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1494C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000301015 |
| Start |
88720534:88720534(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5802-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |