| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000311559 |
| Start |
50793598:50793598(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2403A>C |
| AA Mutation |
p.Glu801Asp(p.E801D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000311559 |
| Start |
50751753:50751753(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.654T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000311559 |
| Start |
50784328:50784328(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1827-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |