| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000282957 |
| Start |
148841826:148841826(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs761204342
|
| CDS Mutation |
c.478G>A |
| AA Mutation |
p.Gly160Ser(p.G160S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000282957 |
| Start |
148840703:148840703(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.290T>A |
| AA Mutation |
p.Leu97Gln(p.L97Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000282957 |
| Start |
148834540:148834540(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.190C>A |
| AA Mutation |
p.His64Asn(p.H64N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |