| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000345617 |
| Start |
239053584:239053585(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3090_3091delCC |
| AA Mutation |
p.Leu1031AlafsTer44(p.L1031Afs*44) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000345617 |
| Start |
239236665:239236665(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.23-1G>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000345617 |
| Start |
239134645:239134645(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.979-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |