| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000304895 |
| Start |
65970345:65970345(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1413A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000304895 |
| Start |
65961036:65961036(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1817delA |
| AA Mutation |
p.Lys606ArgfsTer34(p.K606Rfs*34) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000304895 |
| Start |
65975056:65975056(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.928C>T |
| AA Mutation |
p.Gln310Ter(p.Q310*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |