| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356634 |
| Start |
23082311:23082311(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2318A>G |
| AA Mutation |
p.Tyr773Cys(p.Y773C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000356634 |
| Start |
23069133:23069133(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1323G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000356634 |
| Start |
23030624:23030625(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.508dupG |
| AA Mutation |
p.Glu170GlyfsTer17(p.E170Gfs*17) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |