| ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000392692 |
| Start |
172773914:172773914(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1440A>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000392692 |
| Start |
172757155:172757155(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.480delA |
| AA Mutation |
p.Gly161GlufsTer16(p.G161Efs*16) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000392692 |
| Start |
172807889:172807889(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2365C>T |
| AA Mutation |
p.Arg789Ter(p.R789*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |