| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000302819 |
| Start |
58534448:58534448(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs747182843
|
| CDS Mutation |
c.235G>A |
| AA Mutation |
p.Ala79Thr(p.A79T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000302819 |
| Start |
58531325:58531325(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs75760511
|
| CDS Mutation |
c.745C>A |
| AA Mutation |
p.Gln249Lys(p.Q249K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000302819 |
| Start |
58524558:58524558(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1394C>T |
| AA Mutation |
p.Thr465Met(p.T465M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |