| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000160382 |
| Start |
100646617:100646617(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs771366451
|
| CDS Mutation |
c.1047C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000160382 |
| Start |
100655540:100655540(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.149delG |
| AA Mutation |
p.Gly50AlafsTer40(p.G50Afs*40) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000160382 |
| Start |
100647508:100647508(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.695delC |
| AA Mutation |
p.Pro232GlnfsTer24(p.P232Qfs*24) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |