| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000430069 |
| Start |
177051586:177051586(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.345A>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000430069 |
| Start |
177050534:177050534(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.504T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000430069 |
| Start |
177051554:177051554(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.377delA |
| AA Mutation |
p.Asn126MetfsTer16(p.N126Mfs*16) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |