| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357084 |
| Start |
28902231:28902231(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2369T>C |
| AA Mutation |
p.Val790Ala(p.V790A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357084 |
| Start |
28902011:28902011(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2249G>T |
| AA Mutation |
p.Gly750Val(p.G750V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000357084 |
| Start |
28879097:28879097(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201535825
|
| CDS Mutation |
c.119-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |