| ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000278742 |
| Start |
130190509:130190509(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.690G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000278742 |
| Start |
130188187:130188188(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.159dupG |
| AA Mutation |
p.Arg54AlafsTer46(p.R54Afs*46) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000278742 |
| Start |
130209731:130209732(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2480dupG |
| AA Mutation |
p.Asp828ArgfsTer70(p.D828Rfs*70) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |