| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000489671 |
| Start |
142005479:142005479(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.148delA |
| AA Mutation |
p.Thr50ProfsTer2(p.T50Pfs*2) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000489671 |
| Start |
141963930:141963930(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.766C>T |
| AA Mutation |
p.Arg256Ter(p.R256*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000489671 |
| Start |
141974104:141974105(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.606dupA |
| AA Mutation |
p.Glu203ArgfsTer57(p.E203Rfs*57) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |