| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71695444T>C | CA137320 | CDH23 | c.2316T>C (p.Asn772=) c.1747T>C c.2331T>C (p.Asn777=) c.1091T>C c.2511T>C (p.Asn837=) c.2445T>C (p.Asn815=) c.2505T>C (p.Asn835=) c.2451T>C (p.Asn817=) c.2376T>C (p.Asn792=) c.1971T>C (p.Asn657=) c.1329T>C (p.Asn443=) n.2754T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71695444T= | CA180660 | CDH23 | c.2316T= (p.Asn772=) c.1747T= c.2331T= (p.Asn777=) c.1091T= c.2511T= (p.Asn837=) c.2445T= (p.Asn815=) c.2505T= (p.Asn835=) c.2451T= (p.Asn817=) c.2376T= (p.Asn792=) c.1971T= (p.Asn657=) c.1329T= (p.Asn443=) n.2754T= | ClinVar dbSNP |