| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000340010 |
| Start |
107786866:107786866(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.932delA |
| AA Mutation |
p.Asn311ThrfsTer11(p.N311Tfs*11) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000340010 |
| Start |
107794598:107794598(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.-88-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000340010 |
| Start |
107767765:107767765(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2205+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |