| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000373409 |
| Start |
233718994:233718994(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs749212538
|
| CDS Mutation |
c.174G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000373409 |
| Start |
233719331:233719331(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs780658532
|
| CDS Mutation |
c.517delT |
| AA Mutation |
p.Trp173GlyfsTer8(p.W173Gfs*8) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000373409 |
| Start |
233719330:233719331(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.517dupT |
| AA Mutation |
p.Trp173LeufsTer7(p.W173Lfs*7) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |