| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000160827 |
| Start |
29805011:29805011(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs752878228
|
| CDS Mutation |
c.1875C>A |
| AA Mutation |
p.His625Gln(p.H625Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000160827 |
| Start |
29804901:29804901(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1765C>A |
| AA Mutation |
p.Arg589Ser(p.R589S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000160827 |
| Start |
29799705:29799705(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1068C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |