| ID |
7 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000263201 |
| Start |
19516818:19516818(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1566delT |
| AA Mutation |
p.Phe522LeufsTer25(p.F522Lfs*25) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000263201 |
| Start |
19516880:19516880(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1626delT |
| AA Mutation |
p.Phe542LeufsTer5(p.F542Lfs*5) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000263201 |
| Start |
19494363:19494363(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.523C>T |
| AA Mutation |
p.Arg175Ter(p.R175*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |