| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71732292G>C | CA377156742 | C10orf105,CDH23 | c.4021G>C (p.Asp1341His) c.4018G>C (p.Asp1340His) c.4036G>C (p.Asp1346His) c.-6+5436C>G (n.-6+5436C>G) n.713G>C c.4216G>C (p.Asp1406His) c.4150G>C (p.Asp1384His) c.4210G>C (p.Asp1404His) c.4156G>C (p.Asp1386His) c.4081G>C (p.Asp1361His) c.3676G>C (p.Asp1226His) c.3034G>C (p.Asp1012His) c.544G>C (p.Asp182His) n.4459G>C | dbSNP |
| 10 | g.71732292G>A | CA253334 | C10orf105,CDH23 | c.4021G>A (p.Asp1341Asn) c.4018G>A (p.Asp1340Asn) c.4036G>A (p.Asp1346Asn) c.-6+5436C>T (n.-6+5436C>T) n.713G>A c.4216G>A (p.Asp1406Asn) c.4150G>A (p.Asp1384Asn) c.4210G>A (p.Asp1404Asn) c.4156G>A (p.Asp1386Asn) c.4081G>A (p.Asp1361Asn) c.3676G>A (p.Asp1226Asn) c.3034G>A (p.Asp1012Asn) c.544G>A (p.Asp182Asn) n.4459G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |