| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355413 |
| Start |
141637007:141637007(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.716G>A |
| AA Mutation |
p.Ser239Asn(p.S239N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000355413 |
| Start |
141601225:141601225(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.248delA |
| AA Mutation |
p.Asn83MetfsTer13(p.N83Mfs*13) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
start_lost |
| Transcription ID |
ENST00000355413 |
| Start |
141555467:141555467(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1A>G |
| AA Mutation |
p.Met1?(p.M1?) |
| Mutation Classification |
Translation_Start_Site |
| Feature Type |
Transcript |