| ID |
19 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000393593 |
| Start |
184418669:184418670(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.226dupA |
| AA Mutation |
p.Thr76AsnfsTer15(p.T76Nfs*15) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
20 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000393593 |
| Start |
184408276:184408276(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.412-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| ID |
21 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000393593 |
| Start |
184418215:184418215(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.365-2A>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |