| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000371891 |
| Start |
47137596:47137596(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.111C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000371891 |
| Start |
47143808:47143809(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.688dupT |
| AA Mutation |
p.Cys230LeufsTer9(p.C230Lfs*9) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000371891 |
| Start |
47140778:47140778(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.196-2A>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |