| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000263360 |
| Start |
86268532:86268532(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.937C>T |
| AA Mutation |
p.Arg313Ter(p.R313*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000263360 |
| Start |
86277076:86277076(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1063C>T |
| AA Mutation |
p.Arg355Ter(p.R355*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000263360 |
| Start |
86250383:86250384(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.206dupG |
| AA Mutation |
p.Trp73MetfsTer15(p.W73Mfs*15) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |