| ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000308696 |
| Start |
231067076:231067076(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.475A>T |
| AA Mutation |
p.Arg159Ter(p.R159*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000308696 |
| Start |
231062572:231062573(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.205dupT |
| AA Mutation |
p.Tyr69LeufsTer7(p.Y69Lfs*7) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000308696 |
| Start |
231066965:231066966(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.372dupA |
| AA Mutation |
p.Pro125ThrfsTer3(p.P125Tfs*3) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |