| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000267845 |
| Start |
50242793:50242793(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778709808
|
| CDS Mutation |
c.1456C>T |
| AA Mutation |
p.Arg486Trp(p.R486W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000267845 |
| Start |
50257488:50257488(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.378G>A |
| AA Mutation |
p.Met126Ile(p.M126I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000267845 |
| Start |
50242869:50242869(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs777288804
|
| CDS Mutation |
c.1380C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |