| ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000293371 |
| Start |
54647121:54647121(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.97C>A |
| AA Mutation |
p.Pro33Thr(p.P33T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000293371 |
| Start |
54647145:54647145(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.73G>T |
| AA Mutation |
p.Ala25Ser(p.A25S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000293371 |
| Start |
54644743:54644743(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs373661792
|
| CDS Mutation |
c.303C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |