| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000295743 |
| Start |
27720212:27720212(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.995delG |
| AA Mutation |
p.Gly332AlafsTer4(p.G332Afs*4) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000295743 |
| Start |
27717084:27717084(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2047delT |
| AA Mutation |
p.Tyr683ThrfsTer9(p.Y683Tfs*9) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000295743 |
| Start |
27718649:27718649(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1318-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |