| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000373968 |
| Start |
52770719:52770719(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.255T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000373968 |
| Start |
52770756:52770756(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs771341295
|
| CDS Mutation |
c.218delC |
| AA Mutation |
p.Pro73LeufsTer68(p.P73Lfs*68) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000373968 |
| Start |
52770755:52770756(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs747467008
|
| CDS Mutation |
c.218dupC |
| AA Mutation |
p.Gly74TrpfsTer31(p.G74Wfs*31) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |