| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000304858 |
| Start |
133088455:133088455(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1037G>A |
| AA Mutation |
p.Arg346Gln(p.R346Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000304858 |
| Start |
133092723:133092723(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs759663275
|
| CDS Mutation |
c.1584A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000304858 |
| Start |
133104303:133104303(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2396delA |
| AA Mutation |
p.Asn799MetfsTer50(p.N799Mfs*50) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |