Gene >> CYP4F3
| ID |
1 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000221307 |
| Start |
15641607:15641608(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.192_193insCAAACGACATGATTTTGTACTTTTTAATGACTGCATAGTATTTCAT |
| AA Mutation |
p.Gly65GlnfsTer4(p.G65Qfs*4) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000221307 |
| Start |
15647225:15647236(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.426_437delAAAGTGGAGCCG |
| AA Mutation |
p.Glu142_Arg146delinsAsp(p.E142_R146delinsD) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |