| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71738597C>T | CA261782 | CDH23 | c.4309C>T (p.Arg1437Ter) c.4324C>T (p.Arg1442Ter) n.998C>T c.4504C>T (p.Arg1502Ter) c.4438C>T (p.Arg1480Ter) c.4501C>T (p.Arg1501Ter) c.4498C>T (p.Arg1500Ter) c.4444C>T (p.Arg1482Ter) c.4369C>T (p.Arg1457Ter) c.3964C>T (p.Arg1322Ter) c.3322C>T (p.Arg1108Ter) c.832C>T (p.Arg278Ter) n.4747C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71738597C>G | CA377159362 | CDH23 | c.4309C>G (p.Arg1437Gly) c.4324C>G (p.Arg1442Gly) n.998C>G c.4504C>G (p.Arg1502Gly) c.4438C>G (p.Arg1480Gly) c.4501C>G (p.Arg1501Gly) c.4498C>G (p.Arg1500Gly) c.4444C>G (p.Arg1482Gly) c.4369C>G (p.Arg1457Gly) c.3964C>G (p.Arg1322Gly) c.3322C>G (p.Arg1108Gly) c.832C>G (p.Arg278Gly) n.4747C>G | dbSNP |
| 10 | g.71738597C>A | CA470068754 | CDH23 | c.4309C>A (p.Arg1437=) c.4324C>A (p.Arg1442=) n.998C>A c.4504C>A (p.Arg1502=) c.4438C>A (p.Arg1480=) c.4501C>A (p.Arg1501=) c.4498C>A (p.Arg1500=) c.4444C>A (p.Arg1482=) c.4369C>A (p.Arg1457=) c.3964C>A (p.Arg1322=) c.3322C>A (p.Arg1108=) c.832C>A (p.Arg278=) n.4747C>A | dbSNP gnomAD v2 gnomAD v4 |