| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000359957 |
| Start |
66341270:66341270(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.294C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000359957 |
| Start |
66341243:66341243(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.321delG |
| AA Mutation |
p.Leu108CysfsTer22(p.L108Cfs*22) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000359957 |
| Start |
66341600:66341600(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778576158
|
| CDS Mutation |
c.163C>T |
| AA Mutation |
p.Arg55Ter(p.R55*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |