| ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000362072 |
| Start |
113410918:113410918(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200352240
|
| CDS Mutation |
c.1141G>A |
| AA Mutation |
p.Val381Met(p.V381M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000362072 |
| Start |
113424496:113424496(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201114741
|
| CDS Mutation |
c.156C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000362072 |
| Start |
113410784:113410784(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1275C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |