| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000393106 |
| Start |
119248134:119248134(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs192949704
|
| CDS Mutation |
c.948C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000393106 |
| Start |
119247939:119247939(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.753C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000393106 |
| Start |
119254825:119254825(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1162delT |
| AA Mutation |
p.Trp388GlyfsTer18(p.W388Gfs*18) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |