| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312783 |
| Start |
56386328:56386328(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.248G>A |
| AA Mutation |
p.Ser83Asn(p.S83N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312783 |
| Start |
56383012:56383012(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.539G>A |
| AA Mutation |
p.Arg180Lys(p.R180K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000312783 |
| Start |
56386528:56386528(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.48A>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |