| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000309195 |
| Start |
111586099:111586099(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.276A>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000309195 |
| Start |
111570200:111570200(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.770delC |
| AA Mutation |
p.Pro257GlnfsTer28(p.P257Qfs*28) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000309195 |
| Start |
111578805:111578806(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.641_642insAA |
| AA Mutation |
p.Tyr214Ter(p.Y214*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |