Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.122284985G>C | CA179846 | CASR | c.2800G>C (p.Glu934Gln) c.3061G>C (p.Glu1021Gln) c.3031G>C (p.Glu1011Gln) c.2548G>C (p.Glu850Gln) c.2443G>C (p.Glu815Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284985G>A | CA354161296 | CASR | c.2800G>A (p.Glu934Lys) c.3061G>A (p.Glu1021Lys) c.3031G>A (p.Glu1011Lys) c.2548G>A (p.Glu850Lys) c.2443G>A (p.Glu815Lys) | dbSNP |