| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71739772G>C | CA253319 | CDH23 | c.4488G>C (p.Gln1496His) c.4503G>C (p.Gln1501His) n.1177G>C c.4683G>C (p.Gln1561His) c.4617G>C (p.Gln1539His) c.4680G>C (p.Gln1560His) c.4677G>C (p.Gln1559His) c.4623G>C (p.Gln1541His) c.4548G>C (p.Gln1516His) c.4143G>C (p.Gln1381His) c.3501G>C (p.Gln1167His) c.1011G>C (p.Gln337His) n.4926G>C | ClinVar dbSNP gnomAD v4 |
| 10 | g.71739772G= | CA1918853325 | CDH23 | c.4488G= (p.Gln1496=) c.4503G= (p.Gln1501=) n.1177G= c.4683G= (p.Gln1561=) c.4617G= (p.Gln1539=) c.4680G= (p.Gln1560=) c.4677G= (p.Gln1559=) c.4623G= (p.Gln1541=) c.4548G= (p.Gln1516=) c.4143G= (p.Gln1381=) c.3501G= (p.Gln1167=) c.1011G= (p.Gln337=) n.4926G= | dbSNP |
| 10 | g.71739772G>T | CA377160264 | CDH23 | c.4488G>T (p.Gln1496His) c.4503G>T (p.Gln1501His) n.1177G>T c.4683G>T (p.Gln1561His) c.4617G>T (p.Gln1539His) c.4680G>T (p.Gln1560His) c.4677G>T (p.Gln1559His) c.4623G>T (p.Gln1541His) c.4548G>T (p.Gln1516His) c.4143G>T (p.Gln1381His) c.3501G>T (p.Gln1167His) c.1011G>T (p.Gln337His) n.4926G>T | dbSNP gnomAD v4 |