| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310581 |
| Start |
1253765:1253765(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3362C>A |
| AA Mutation |
p.Pro1121Gln(p.P1121Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310581 |
| Start |
1294213:1294213(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.673G>A |
| AA Mutation |
p.Gly225Arg(p.G225R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000310581 |
| Start |
1268561:1268561(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs770543108
|
| CDS Mutation |
c.2541C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |