| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000297785 |
| Start |
72927164:72927164(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.456delT |
| AA Mutation |
p.Phe152LeufsTer29(p.F152Lfs*29) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000297785 |
| Start |
72930978:72930978(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.213delT |
| AA Mutation |
p.Gln72ArgfsTer24(p.Q72Rfs*24) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000297785 |
| Start |
72940232:72940232(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.87G>A |
| AA Mutation |
p.Trp29Ter(p.W29*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |