| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71807302T>C | CA16609573 | CDH23 | c.8204T>C (p.Leu2735Pro) c.2137T>C (n.2137T>C) c.1801T>C (n.1801T>C) c.8219T>C (p.Leu2740Pro) c.1484T>C (p.Leu495Pro) n.1740T>C c.8399T>C (p.Leu2800Pro) c.8333T>C (p.Leu2778Pro) c.8396T>C (p.Leu2799Pro) c.8393T>C (p.Leu2798Pro) c.8339T>C (p.Leu2780Pro) c.8309T>C (p.Leu2770Pro) c.8264T>C (p.Leu2755Pro) c.7859T>C (p.Leu2620Pro) c.7217T>C (p.Leu2406Pro) c.4727T>C (p.Leu1576Pro) | ClinVar dbSNP |
| 10 | g.71807302T= | CA1918886057 | CDH23 | c.8204T= (p.Leu2735=) c.2137T= (n.2137T=) c.1801T= (n.1801T=) c.8219T= (p.Leu2740=) c.1484T= (p.Leu495=) n.1740T= c.8399T= (p.Leu2800=) c.8333T= (p.Leu2778=) c.8396T= (p.Leu2799=) c.8393T= (p.Leu2798=) c.8339T= (p.Leu2780=) c.8309T= (p.Leu2770=) c.8264T= (p.Leu2755=) c.7859T= (p.Leu2620=) c.7217T= (p.Leu2406=) c.4727T= (p.Leu1576=) | dbSNP |