| ID |
1 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000371790 |
| Start |
89436295:89436295(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1053T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000371790 |
| Start |
89443841:89443841(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs770429879
|
| CDS Mutation |
c.219delT |
| AA Mutation |
p.Phe73LeufsTer22(p.F73Lfs*22) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000371790 |
| Start |
89443840:89443841(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs760181506
|
| CDS Mutation |
c.219dupT |
| AA Mutation |
p.Val74CysfsTer37(p.V74Cfs*37) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |