| 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 |
| 10 | g.71732292G= | CA1918849758 | C10orf105,CDH23 | c.4021G= (p.Asp1341=) c.4018G= (p.Asp1340=) c.4036G= (p.Asp1346=) c.-6+5436C= (n.-6+5436C=) n.713G= c.4216G= (p.Asp1406=) c.4150G= (p.Asp1384=) c.4210G= (p.Asp1404=) c.4156G= (p.Asp1386=) c.4081G= (p.Asp1361=) c.3676G= (p.Asp1226=) c.3034G= (p.Asp1012=) c.544G= (p.Asp182=) n.4459G= | dbSNP |
| 10 | g.71732292G>T | CA377156743 | C10orf105,CDH23 | c.4021G>T (p.Asp1341Tyr) c.4018G>T (p.Asp1340Tyr) c.4036G>T (p.Asp1346Tyr) c.-6+5436C>A (n.-6+5436C>A) n.713G>T c.4216G>T (p.Asp1406Tyr) c.4150G>T (p.Asp1384Tyr) c.4210G>T (p.Asp1404Tyr) c.4156G>T (p.Asp1386Tyr) c.4081G>T (p.Asp1361Tyr) c.3676G>T (p.Asp1226Tyr) c.3034G>T (p.Asp1012Tyr) c.544G>T (p.Asp182Tyr) n.4459G>T | dbSNP gnomAD v4 |