| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000358625 |
| Start |
134142647:134142647(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs749466002
|
| CDS Mutation |
c.456C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000358625 |
| Start |
134154476:134154476(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.648delC |
| AA Mutation |
p.Val217CysfsTer4(p.V217Cfs*4) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000358625 |
| Start |
134154475:134154476(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs780890680
|
| CDS Mutation |
c.648dupC |
| AA Mutation |
p.Val217ArgfsTer42(p.V217Rfs*42) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |