| ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000340093 |
| Start |
43649109:43649109(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.789T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000340093 |
| Start |
43649129:43649129(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.769delA |
| AA Mutation |
p.Ser257AlafsTer4(p.S257Afs*4) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000340093 |
| Start |
43667620:43667620(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.127C>T |
| AA Mutation |
p.Gln43Ter(p.Q43*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |