| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000244741 |
| Start |
36684482:36684482(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.381T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000244741 |
| Start |
36684341:36684341(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.243delG |
| AA Mutation |
p.Arg83GlyfsTer65(p.R83Gfs*65) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000244741 |
| Start |
36684095:36684095(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.-5-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |