| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71799629G>A | CA261797 | CDH23 | c.7362G>A (p.Thr2454=) c.1295G>A (n.1295G>A) c.959G>A (n.959G>A) c.7377G>A (p.Thr2459=) c.642G>A (p.Thr214=) n.898G>A c.7557G>A (p.Thr2519=) c.7491G>A (p.Thr2497=) c.7554G>A (p.Thr2518=) c.7551G>A (p.Thr2517=) c.7497G>A (p.Thr2499=) c.7467G>A (p.Thr2489=) c.7422G>A (p.Thr2474=) c.7017G>A (p.Thr2339=) c.6375G>A (p.Thr2125=) c.3885G>A (p.Thr1295=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71799629G>C | CA470062229 | CDH23 | c.7362G>C (p.Thr2454=) c.1295G>C (n.1295G>C) c.959G>C (n.959G>C) c.7377G>C (p.Thr2459=) c.642G>C (p.Thr214=) n.898G>C c.7557G>C (p.Thr2519=) c.7491G>C (p.Thr2497=) c.7554G>C (p.Thr2518=) c.7551G>C (p.Thr2517=) c.7497G>C (p.Thr2499=) c.7467G>C (p.Thr2489=) c.7422G>C (p.Thr2474=) c.7017G>C (p.Thr2339=) c.6375G>C (p.Thr2125=) c.3885G>C (p.Thr1295=) | dbSNP gnomAD v4 |
| 10 | g.71799629G= | CA1918878952 | CDH23 | c.7362G= (p.Thr2454=) c.1295G= (n.1295G=) c.959G= (n.959G=) c.7377G= (p.Thr2459=) c.642G= (p.Thr214=) n.898G= c.7557G= (p.Thr2519=) c.7491G= (p.Thr2497=) c.7554G= (p.Thr2518=) c.7551G= (p.Thr2517=) c.7497G= (p.Thr2499=) c.7467G= (p.Thr2489=) c.7422G= (p.Thr2474=) c.7017G= (p.Thr2339=) c.6375G= (p.Thr2125=) c.3885G= (p.Thr1295=) | dbSNP |