| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261448 |
| Start |
115701307:115701307(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs150486780
|
| CDS Mutation |
c.1134T>A |
| AA Mutation |
p.Asp378Glu(p.D378E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261448 |
| Start |
115725543:115725543(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs151115064
|
| CDS Mutation |
c.748C>T |
| AA Mutation |
p.Arg250Cys(p.R250C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000261448 |
| Start |
115744914:115744914(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.235-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |