| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000295500 |
| Start |
174481537:174481537(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.420delT |
| AA Mutation |
p.Phe140LeufsTer14(p.F140Lfs*14) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000295500 |
| Start |
174473022:174473023(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.802dupA |
| AA Mutation |
p.Ile268AsnfsTer19(p.I268Nfs*19) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
10 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000295500 |
| Start |
174461587:174461587(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1469+1delG |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |