| ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000359106 |
| Start |
50576256:50576256(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1854C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000359106 |
| Start |
50576190:50576190(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1790delC |
| AA Mutation |
p.Pro597LeufsTer6(p.P597Lfs*6) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000359106 |
| Start |
50605987:50605987(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4386G>A |
| AA Mutation |
p.Trp1462Ter(p.W1462*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |