| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000261556 |
| Start |
56585894:56585894(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.332delT |
| AA Mutation |
p.Phe111SerfsTer25(p.F111Sfs*25) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000261556 |
| Start |
56580061:56580061(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.152delG |
| AA Mutation |
p.Gly51GlufsTer6(p.G51Efs*6) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
10 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000261556 |
| Start |
56603814:56603814(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.345-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |