| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000191018 |
| Start |
45898013:45898013(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1263G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000191018 |
| Start |
45897769:45897770(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1222dupG |
| AA Mutation |
p.Asp408GlyfsTer2(p.D408Gfs*2) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000191018 |
| Start |
45895028:45895029(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs758642867
|
| CDS Mutation |
c.990dupC |
| AA Mutation |
p.Cys331LeufsTer56(p.C331Lfs*56) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |