| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000373203 |
| Start |
127826572:127826572(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.461delG |
| AA Mutation |
p.Gly154AlafsTer9(p.G154Afs*9) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000373203 |
| Start |
127825276:127825276(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.771delC |
| AA Mutation |
p.Tyr258ThrfsTer101(p.Y258Tfs*101) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000373203 |
| Start |
127829783:127829784(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.258_263dupGCAAAA |
| AA Mutation |
p.Lys86_Gln87dup(p.K86_Q87dup) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |