| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000263681 |
| Start |
74625530:74625530(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.861delA |
| AA Mutation |
p.Ala288GlnfsTer17(p.A288Qfs*17) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000263681 |
| Start |
74604720:74604720(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.145C>T |
| AA Mutation |
p.Arg49Ter(p.R49*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000263681 |
| Start |
74604795:74604795(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.219+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |