| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71790360C>G | CA137515 | CDH23 | c.5996C>G (p.Thr1999Ser) c.6011C>G (p.Thr2004Ser) c.6191C>G (p.Thr2064Ser) c.6125C>G (p.Thr2042Ser) c.6188C>G (p.Thr2063Ser) c.6185C>G (p.Thr2062Ser) c.6131C>G (p.Thr2044Ser) c.6056C>G (p.Thr2019Ser) c.5651C>G (p.Thr1884Ser) c.5009C>G (p.Thr1670Ser) c.2519C>G (p.Thr840Ser) n.6434C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71790360C= | CA1918870268 | CDH23 | c.5996C= (p.Thr1999=) c.6011C= (p.Thr2004=) c.6191C= (p.Thr2064=) c.6125C= (p.Thr2042=) c.6188C= (p.Thr2063=) c.6185C= (p.Thr2062=) c.6131C= (p.Thr2044=) c.6056C= (p.Thr2019=) c.5651C= (p.Thr1884=) c.5009C= (p.Thr1670=) c.2519C= (p.Thr840=) n.6434C= | dbSNP |