| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000325404 |
| Start |
181712627:181712627(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.267G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000325404 |
| Start |
181713223:181713223(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.867delC |
| AA Mutation |
p.Ser290AlafsTer81(p.S290Afs*81) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000325404 |
| Start |
181713113:181713113(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.758delC |
| AA Mutation |
p.Pro253LeufsTer21(p.P253Lfs*21) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |