| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000329734 |
| Start |
54285175:54285175(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.706delG |
| AA Mutation |
p.Glu236ArgfsTer24(p.E236Rfs*24) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000329734 |
| Start |
54285156:54285156(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.725delG |
| AA Mutation |
p.Gly242AlafsTer18(p.G242Afs*18) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000329734 |
| Start |
54285175:54285176(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.705_706delGG |
| AA Mutation |
p.Glu236GlyfsTer11(p.E236Gfs*11) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |