| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000373078 |
| Start |
128066871:128066871(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.231C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000373078 |
| Start |
128066784:128066784(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.318delG |
| AA Mutation |
p.Pro107LeufsTer14(p.P107Lfs*14) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000373078 |
| Start |
128063577:128063577(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.835C>T |
| AA Mutation |
p.Gln279Ter(p.Q279*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |