| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000228644 |
| Start |
80719024:80719024(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.742delT |
| AA Mutation |
p.Ser248ProfsTer16(p.S248Pfs*16) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000228644 |
| Start |
80718897:80718898(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.616dupT |
| AA Mutation |
p.Cys206LeufsTer42(p.C206Lfs*42) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000228644 |
| Start |
80718357:80718357(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.502-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |