| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000369518 |
| Start |
114876752:114876752(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.748delA |
| AA Mutation |
p.Ile250SerfsTer12(p.I250Sfs*12) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000369518 |
| Start |
114995009:114995009(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2921T>A |
| AA Mutation |
p.Leu974Ter(p.L974*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000369518 |
| Start |
114887630:114887631(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1202dupA |
| AA Mutation |
p.Asn401LysfsTer2(p.N401Kfs*2) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |