| ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000517746 |
| Start |
107336153:107336153(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.572delA |
| AA Mutation |
p.Asn191ThrfsTer4(p.N191Tfs*4) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
18 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000517746 |
| Start |
107336178:107336178(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.547G>T |
| AA Mutation |
p.Glu183Ter(p.E183*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
19 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000517746 |
| Start |
107497400:107497401(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.158dupA |
| AA Mutation |
p.Asn53LysfsTer4(p.N53Kfs*4) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |