| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000246957 |
| Start |
3666008:3666008(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs764205911
|
| CDS Mutation |
c.1346G>A |
| AA Mutation |
p.Arg449Gln(p.R449Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000246957 |
| Start |
3689090:3689090(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.295G>T |
| AA Mutation |
p.Asp99Tyr(p.D99Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000246957 |
| Start |
3663464:3663464(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1668G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |