| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000399050 |
| Start |
57796870:57796870(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.834G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000399050 |
| Start |
57815448:57815448(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2756delG |
| AA Mutation |
p.Arg919HisfsTer5(p.R919Hfs*5) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000399050 |
| Start |
57796699:57796700(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.665dupC |
| AA Mutation |
p.Gly223ArgfsTer4(p.G223Rfs*4) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |