| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295463 |
| Start |
232456604:232456604(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.209C>T |
| AA Mutation |
p.Ala70Val(p.A70V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295463 |
| Start |
232457228:232457228(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs761639198
|
| CDS Mutation |
c.554G>A |
| AA Mutation |
p.Arg185His(p.R185H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000295463 |
| Start |
232456365:232456365(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs775849282
|
| CDS Mutation |
c.84G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |