Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.232534087G>C | CA2168290 | CHRND | c.1204G>C (p.Glu402Gln) c.*386G>C (n.*386G>C) c.*845G>C (n.*845G>C) c.1159G>C (p.Glu387Gln) c.622G>C (p.Glu208Gln) c.901G>C (p.Glu301Gln) c.-4294966347G>C c.-4294966068G>C c.823G>C (p.Glu275Gln) | dbSNP ExAC gnomAD v2 |
2 | g.232534087G>A | CA2168289 | CHRND | c.1204G>A (p.Glu402Lys) c.*386G>A (n.*386G>A) c.*845G>A (n.*845G>A) c.1159G>A (p.Glu387Lys) c.622G>A (p.Glu208Lys) c.901G>A (p.Glu301Lys) c.-4294966347G>A c.-4294966068G>A c.823G>A (p.Glu275Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |