| ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000216373 |
| Start |
50138726:50138727(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2843dupA |
| AA Mutation |
p.Lys949GlufsTer10(p.K949Efs*10) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
18 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000216373 |
| Start |
50118348:50118349(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3994dupC |
| AA Mutation |
p.Gln1332ProfsTer10(p.Q1332Pfs*10) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
19 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000216373 |
| Start |
50199856:50199856(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.346-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |