| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000220244 |
| Start |
80929070:80929070(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2508C>A |
| AA Mutation |
p.Ser836Arg(p.S836R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000220244 |
| Start |
80906737:80906737(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1486C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000220244 |
| Start |
80933305:80933305(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2857delG |
| AA Mutation |
p.Asp953IlefsTer64(p.D953Ifs*64) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |