| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000290219 |
| Start |
33421531:33421531(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.258T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000290219 |
| Start |
33426985:33426985(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.520delT |
| AA Mutation |
p.Cys174ValfsTer29(p.C174Vfs*29) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000290219 |
| Start |
33426984:33426985(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.520dupT |
| AA Mutation |
p.Cys174LeufsTer28(p.C174Lfs*28) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |