| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000320985 |
| Start |
31521369:31521369(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs146821579
|
| CDS Mutation |
c.2034A>C |
| AA Mutation |
p.Gln678His(p.Q678H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000320985 |
| Start |
31521886:31521886(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2551C>T |
| AA Mutation |
p.Pro851Ser(p.P851S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000320985 |
| Start |
31526838:31526838(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2949C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |