| ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262133 |
| Start |
53442792:53442792(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.510delT |
| AA Mutation |
p.Gln171ArgfsTer47(p.Q171Rfs*47) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262133 |
| Start |
53470815:53470815(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2602delA |
| AA Mutation |
p.Ile868SerfsTer9(p.I868Sfs*9) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262133 |
| Start |
53453605:53453605(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.926delA |
| AA Mutation |
p.Lys309SerfsTer14(p.K309Sfs*14) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |