| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371485 |
| Start |
93517075:93517075(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.820A>G |
| AA Mutation |
p.Lys274Glu(p.K274E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000371485 |
| Start |
93500139:93500139(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.89delT |
| AA Mutation |
p.Leu30Ter(p.L30*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000371485 |
| Start |
93516987:93516987(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.738delA |
| AA Mutation |
p.Asp247IlefsTer9(p.D247Ifs*9) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |