| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264377 |
| Start |
206481274:206481274(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs146209053
|
| CDS Mutation |
c.475G>A |
| AA Mutation |
p.Gly159Ser(p.G159S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264377 |
| Start |
206588095:206588095(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs376901578
|
| CDS Mutation |
c.1793G>A |
| AA Mutation |
p.Arg598His(p.R598H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000264377 |
| Start |
206560017:206560017(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs772748788
|
| CDS Mutation |
c.1068G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |