| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000341105 |
| Start |
128485780:128485780(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.818delG |
| AA Mutation |
p.Gly273AspfsTer53(p.G273Dfs*53) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000341105 |
| Start |
128481051:128481051(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1411delC |
| AA Mutation |
p.His471ThrfsTer6(p.H471Tfs*6) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000341105 |
| Start |
128481193:128481195(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1267_1269delGAG |
| AA Mutation |
p.Glu423del(p.E423del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |