| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000395792 |
| Start |
73453825:73453825(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1713C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000395792 |
| Start |
73452514:73452514(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1542C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000395792 |
| Start |
73447655:73447655(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs779815391
|
| CDS Mutation |
c.1043delA |
| AA Mutation |
p.Asn348IlefsTer22(p.N348Ifs*22) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |