| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000468789 |
| Start |
169107939:169107939(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2027A>T |
| AA Mutation |
p.Asp676Val(p.D676V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000468789 |
| Start |
169093090:169093090(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2468delC |
| AA Mutation |
p.Ser823CysfsTer46(p.S823Cfs*46) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000468789 |
| Start |
169115469:169115469(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs773080349
|
| CDS Mutation |
c.1839delA |
| AA Mutation |
p.Gly614GlufsTer30(p.G614Efs*30) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |