| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000222157 |
| Start |
48756978:48756978(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.288C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000222157 |
| Start |
48758135:48758135(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.550delC |
| AA Mutation |
p.Gln184SerfsTer11(p.Q184Sfs*11) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000222157 |
| Start |
48756443:48756443(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.212delG |
| AA Mutation |
p.Gly71AlafsTer13(p.G71Afs*13) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |