| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000245934 |
| Start |
45830061:45830061(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1742C>A |
| AA Mutation |
p.Ala581Glu(p.A581E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000245934 |
| Start |
45825191:45825191(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2470C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000245934 |
| Start |
45827593:45827593(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2098C>T |
| AA Mutation |
p.Arg700Ter(p.R700*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |