| ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000323959 |
| Start |
33107928:33107928(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.331delA |
| AA Mutation |
p.Thr111ProfsTer40(p.T111Pfs*40) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000323959 |
| Start |
33087000:33087000(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1783C>T |
| AA Mutation |
p.Arg595Ter(p.R595*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
14 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000323959 |
| Start |
33085132:33085133(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2108dupC |
| AA Mutation |
p.Val704CysfsTer3(p.V704Cfs*3) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |