| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000299506 |
| Start |
8090176:8090176(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.198A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000299506 |
| Start |
8097316:8097316(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.781delC |
| AA Mutation |
p.Gln261ArgfsTer76(p.Q261Rfs*76) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000299506 |
| Start |
8090180:8090181(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.208dupC |
| AA Mutation |
p.Leu70ProfsTer55(p.L70Pfs*55) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |