| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000407540 |
| Start |
19997237:19997237(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1191C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000407540 |
| Start |
20000450:20000450(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1159delA |
| AA Mutation |
p.Thr387HisfsTer10(p.T387Hfs*10) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000407540 |
| Start |
20006081:20006082(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.452dupG |
| AA Mutation |
p.Arg152SerfsTer35(p.R152Sfs*35) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |