| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000296140 |
| Start |
46204114:46204114(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.200delA |
| AA Mutation |
p.Asn67ThrfsTer2(p.N67Tfs*2) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000296140 |
| Start |
46203972:46203972(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.342C>A |
| AA Mutation |
p.Tyr114Ter(p.Y114*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000296140 |
| Start |
46204133:46204133(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.181C>T |
| AA Mutation |
p.Gln61Ter(p.Q61*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |