| ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000020945 |
| Start |
48918813:48918813(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.801A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000020945 |
| Start |
48918948:48918948(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.666delT |
| AA Mutation |
p.Phe222LeufsTer7(p.F222Lfs*7) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
14 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000020945 |
| Start |
48918880:48918880(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.734delA |
| AA Mutation |
p.Asn245ThrfsTer22(p.N245Tfs*22) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |