| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000287820 |
| Start |
12434051:12434051(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1424C>T |
| AA Mutation |
p.Thr475Met(p.T475M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000287820 |
| Start |
12405949:12405949(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs755427537
|
| CDS Mutation |
c.687C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000287820 |
| Start |
12392683:12392683(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.556delA |
| AA Mutation |
p.Ser186ValfsTer47(p.S186Vfs*47) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |