| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000266671 |
| Start |
76031208:76031212(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.530_534delAAGGG |
| AA Mutation |
p.Glu177AlafsTer238(p.E177Afs*238) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000266671 |
| Start |
76031080:76031081(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.661_662insGG |
| AA Mutation |
p.Ala221GlyfsTer18(p.A221Gfs*18) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000266671 |
| Start |
76031261:76031262(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.480dupC |
| AA Mutation |
p.Asp161ArgfsTer256(p.D161Rfs*256) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |