Gene >> SOX8
| ID |
1 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000293894 |
| Start |
983875:983875(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.570G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000293894 |
| Start |
984924:984924(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.882delC |
| AA Mutation |
p.Ala295ProfsTer149(p.A295Pfs*149) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |