| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000531273 |
| Start |
43328885:43328886(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1123dupA |
| AA Mutation |
p.Ile375AsnfsTer24(p.I375Nfs*24) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000531273 |
| Start |
43320916:43320916(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.325+2T>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000531273 |
| Start |
43335277:43335277(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1279-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |