| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000344908 |
| Start |
127325757:127325757(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.648T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000344908 |
| Start |
127329937:127329937(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.450delA |
| AA Mutation |
p.Lys150AsnfsTer5(p.K150Nfs*5) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000344908 |
| Start |
127338935:127338935(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.120delA |
| AA Mutation |
p.Lys40AsnfsTer29(p.K40Nfs*29) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |