| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000244741 |
| Start |
36684321:36684321(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.222delC |
| AA Mutation |
p.Lys75SerfsTer73(p.K75Sfs*73) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
start_lost |
| Transcription ID |
ENST00000244741 |
| Start |
36684103:36684103(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2T>G |
| AA Mutation |
p.Met1?(p.M1?) |
| Mutation Classification |
Translation_Start_Site |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
start_lost |
| Transcription ID |
ENST00000244741 |
| Start |
36684104:36684104(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3G>T |
| AA Mutation |
p.Met1?(p.M1?) |
| Mutation Classification |
Translation_Start_Site |
| Feature Type |
Transcript |