| ID |
1 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000268459 |
| Start |
50549426:50549426(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.63C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000268459 |
| Start |
50625496:50625496(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs372034222
|
| CDS Mutation |
c.378C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000268459 |
| Start |
50633223:50633224(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs772439983
|
| CDS Mutation |
c.862dupC |
| AA Mutation |
p.Arg288ProfsTer12(p.R288Pfs*12) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |