| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000268171 |
| Start |
90876286:90876286(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.209G>A |
| AA Mutation |
p.Arg70Gln(p.R70Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000268171 |
| Start |
90881363:90881363(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs145582614
|
| CDS Mutation |
c.1870G>A |
| AA Mutation |
p.Asp624Asn(p.D624N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000268171 |
| Start |
90880985:90880985(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs146566561
|
| CDS Mutation |
c.1737C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |