| ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000373985 |
| Start |
51467799:51467799(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.510T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000373985 |
| Start |
52288814:52288814(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1757delA |
| AA Mutation |
p.Asn586MetfsTer5(p.N586Mfs*5) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000373985 |
| Start |
52288835:52288835(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1779delA |
| AA Mutation |
p.Lys593AsnfsTer11(p.K593Nfs*11) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |