| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000246069 |
| Start |
17600775:17600775(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.46delT |
| AA Mutation |
p.Tyr16MetfsTer3(p.Y16Mfs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000246069 |
| Start |
17601035:17601035(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs750962255
|
| CDS Mutation |
c.308delT |
| AA Mutation |
p.Leu103CysfsTer6(p.L103Cfs*6) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000246069 |
| Start |
17607132:17607132(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.484G>T |
| AA Mutation |
p.Gly162Ter(p.G162*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |