| ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000219797 |
| Start |
31130860:31130860(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1272G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000219797 |
| Start |
31131221:31131221(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1344delC |
| AA Mutation |
p.Lys449SerfsTer20(p.K449Sfs*20) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
14 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000219797 |
| Start |
31128071:31128071(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.708delC |
| AA Mutation |
p.Glu239ArgfsTer50(p.E239Rfs*50) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |