| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310833 |
| Start |
207887754:207887754(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1142C>T |
| AA Mutation |
p.Ala381Val(p.A381V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000310833 |
| Start |
207887810:207887810(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs768124315
|
| CDS Mutation |
c.1086C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000310833 |
| Start |
207887827:207887827(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs748029201
|
| CDS Mutation |
c.1069C>T |
| AA Mutation |
p.Arg357Ter(p.R357*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |