| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71790413G>A | CA261792 | CDH23 | c.6049G>A (p.Gly2017Ser) c.6064G>A (p.Gly2022Ser) c.6244G>A (p.Gly2082Ser) c.6178G>A (p.Gly2060Ser) c.6241G>A (p.Gly2081Ser) c.6238G>A (p.Gly2080Ser) c.6184G>A (p.Gly2062Ser) c.6109G>A (p.Gly2037Ser) c.5704G>A (p.Gly1902Ser) c.5062G>A (p.Gly1688Ser) c.2572G>A (p.Gly858Ser) n.6487G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71790413G= | CA1918870408 | CDH23 | c.6049G= (p.Gly2017=) c.6064G= (p.Gly2022=) c.6244G= (p.Gly2082=) c.6178G= (p.Gly2060=) c.6241G= (p.Gly2081=) c.6238G= (p.Gly2080=) c.6184G= (p.Gly2062=) c.6109G= (p.Gly2037=) c.5704G= (p.Gly1902=) c.5062G= (p.Gly1688=) c.2572G= (p.Gly858=) n.6487G= | dbSNP |