| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374391 |
| Start |
45445578:45445578(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs754256319
|
| CDS Mutation |
c.1916G>A |
| AA Mutation |
p.Arg639His(p.R639H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374391 |
| Start |
45443475:45443475(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs143257667
|
| CDS Mutation |
c.1511C>T |
| AA Mutation |
p.Pro504Leu(p.P504L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000374391 |
| Start |
45412263:45412263(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs766792732
|
| CDS Mutation |
c.504C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |