| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000447266 |
| Start |
75715453:75715453(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3202delA |
| AA Mutation |
p.Arg1068GlufsTer7(p.R1068Efs*7) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000447266 |
| Start |
75659383:75659383(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.678delA |
| AA Mutation |
p.Lys226AsnfsTer3(p.K226Nfs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000447266 |
| Start |
75695818:75695818(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2094delA |
| AA Mutation |
p.Lys698AsnfsTer2(p.K698Nfs*2) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |