| ID |
2 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000229854 |
| Start |
52277128:52277142(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1090_1104delCGAGCTATCCCCACC |
| AA Mutation |
p.Arg364_Thr368del(p.R364_T368del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_lost |
| Transcription ID |
ENST00000229854 |
| Start |
52264588:52264588(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2427A>T |
| AA Mutation |
p.Ter809CysextTer38(p.*809Cext*38) |
| Mutation Classification |
Nonstop_Mutation |
| Feature Type |
Transcript |