| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000372338 |
| Start |
130923825:130923825(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.768C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000372338 |
| Start |
130929777:130929777(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.342G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000372338 |
| Start |
130923869:130923869(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.724delC |
| AA Mutation |
p.Arg242GlufsTer8(p.R242Efs*8) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |