| ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000358184 |
| Start |
206012616:206012616(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.819C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000358184 |
| Start |
206012520:206012520(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.915delC |
| AA Mutation |
p.Val306TrpfsTer106(p.V306Wfs*106) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000358184 |
| Start |
206021099:206021099(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.412C>T |
| AA Mutation |
p.Gln138Ter(p.Q138*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |