| ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000360586 |
| Start |
54967349:54967349(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2109C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000360586 |
| Start |
54966521:54966521(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2264delA |
| AA Mutation |
p.Asn755IlefsTer11(p.N755Ifs*11) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000360586 |
| Start |
54984842:54984843(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1786dupG |
| AA Mutation |
p.Asp596GlyfsTer22(p.D596Gfs*22) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |