| ID |
20 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000421745 |
| Start |
32401347:32401347(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1220delG |
| AA Mutation |
p.Gly407GlufsTer12(p.G407Efs*12) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
21 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000421745 |
| Start |
32388825:32388825(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.724delA |
| AA Mutation |
p.Ile242Ter(p.I242*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
22 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000421745 |
| Start |
32549311:32549311(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.12976-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |