| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000339852 |
| Start |
39200349:39200349(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs779504590
|
| CDS Mutation |
c.552C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000339852 |
| Start |
39200441:39200441(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.649delC |
| AA Mutation |
p.Arg217GlufsTer48(p.R217Efs*48) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000339852 |
| Start |
39198076:39198076(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.365delC |
| AA Mutation |
p.Pro122LeufsTer33(p.P122Lfs*33) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |