| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71815099G>A | CA5547202 | CDH23 | c.9886G>A (p.Asp3296Asn) c.3819G>A (n.3819G>A) c.3378G>A (n.3378G>A) c.9901G>A (p.Asp3301Asn) c.3166G>A (p.Asp1056Asn) n.3317G>A c.3061G>A (p.Asp1021Asn) c.577G>A (p.Asp193Asn) c.472G>A (p.Asp158Asn) c.10081G>A (p.Asp3361Asn) c.10015G>A (p.Asp3339Asn) c.10078G>A (p.Asp3360Asn) c.10075G>A (p.Asp3359Asn) c.10021G>A (p.Asp3341Asn) c.9991G>A (p.Asp3331Asn) c.9976G>A (p.Asp3326Asn) c.9946G>A (p.Asp3316Asn) c.9541G>A (p.Asp3181Asn) c.8899G>A (p.Asp2967Asn) c.6409G>A (p.Asp2137Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71815099G= | CA1918895766 | CDH23 | c.9886G= (p.Asp3296=) c.3819G= (n.3819G=) c.3378G= (n.3378G=) c.9901G= (p.Asp3301=) c.3166G= (p.Asp1056=) n.3317G= c.3061G= (p.Asp1021=) c.577G= (p.Asp193=) c.472G= (p.Asp158=) c.10081G= (p.Asp3361=) c.10015G= (p.Asp3339=) c.10078G= (p.Asp3360=) c.10075G= (p.Asp3359=) c.10021G= (p.Asp3341=) c.9991G= (p.Asp3331=) c.9976G= (p.Asp3326=) c.9946G= (p.Asp3316=) c.9541G= (p.Asp3181=) c.8899G= (p.Asp2967=) c.6409G= (p.Asp2137=) | dbSNP |
| 10 | g.71815099G>T | CA377138355 | CDH23 | c.9886G>T (p.Asp3296Tyr) c.3819G>T (n.3819G>T) c.3378G>T (n.3378G>T) c.9901G>T (p.Asp3301Tyr) c.3166G>T (p.Asp1056Tyr) n.3317G>T c.3061G>T (p.Asp1021Tyr) c.577G>T (p.Asp193Tyr) c.472G>T (p.Asp158Tyr) c.10081G>T (p.Asp3361Tyr) c.10015G>T (p.Asp3339Tyr) c.10078G>T (p.Asp3360Tyr) c.10075G>T (p.Asp3359Tyr) c.10021G>T (p.Asp3341Tyr) c.9991G>T (p.Asp3331Tyr) c.9976G>T (p.Asp3326Tyr) c.9946G>T (p.Asp3316Tyr) c.9541G>T (p.Asp3181Tyr) c.8899G>T (p.Asp2967Tyr) c.6409G>T (p.Asp2137Tyr) | dbSNP gnomAD v4 |