| ID |
6 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000397239 |
| Start |
18237382:18237382(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.897delA |
| AA Mutation |
p.Glu300LysfsTer13(p.E300Kfs*13) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000397239 |
| Start |
18258364:18258365(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.186dupA |
| AA Mutation |
p.Val63SerfsTer28(p.V63Sfs*28) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |