| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000245457 |
| Start |
52327252:52327252(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778942367
|
| CDS Mutation |
c.875G>A |
| AA Mutation |
p.Arg292Gln(p.R292Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000245457 |
| Start |
52314674:52314674(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.126A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000245457 |
| Start |
52315284:52315284(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.739delG |
| AA Mutation |
p.Ala247ProfsTer23(p.A247Pfs*23) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |