| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71677616C>T | CA16609570 | CDH23 | c.1675C>T (p.Pro559Ser) c.1106C>T c.1690C>T (p.Pro564Ser) c.450C>T c.1870C>T (p.Pro624Ser) c.1804C>T (p.Pro602Ser) c.1864C>T (p.Pro622Ser) c.1810C>T (p.Pro604Ser) c.1735C>T (p.Pro579Ser) c.1330C>T (p.Pro444Ser) c.688C>T (p.Pro230Ser) n.2113C>T | ClinVar dbSNP gnomAD v4 |
| 10 | g.71677616C= | CA1918818562 | CDH23 | c.1675C= (p.Pro559=) c.1106C= c.1690C= (p.Pro564=) c.450C= c.1870C= (p.Pro624=) c.1804C= (p.Pro602=) c.1864C= (p.Pro622=) c.1810C= (p.Pro604=) c.1735C= (p.Pro579=) c.1330C= (p.Pro444=) c.688C= (p.Pro230=) n.2113C= | dbSNP |