| ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000317151 |
| Start |
219638834:219638834(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2988C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000317151 |
| Start |
219632920:219632920(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1188delA |
| AA Mutation |
p.His397ThrfsTer7(p.H397Tfs*7) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
12 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000317151 |
| Start |
219635671:219635671(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1973-2A>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |