| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71793532G>T | CA5546128 | CDH23 | c.6604G>T (p.Asp2202Tyr) c.6619G>T (p.Asp2207Tyr) c.6799G>T (p.Asp2267Tyr) c.6733G>T (p.Asp2245Tyr) c.6796G>T (p.Asp2266Tyr) c.6793G>T (p.Asp2265Tyr) c.6739G>T (p.Asp2247Tyr) c.6709G>T (p.Asp2237Tyr) c.6664G>T (p.Asp2222Tyr) c.6259G>T (p.Asp2087Tyr) c.5617G>T (p.Asp1873Tyr) c.3127G>T (p.Asp1043Tyr) n.7042G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71793532G>A | CA253328 | CDH23 | c.6604G>A (p.Asp2202Asn) c.6619G>A (p.Asp2207Asn) c.6799G>A (p.Asp2267Asn) c.6733G>A (p.Asp2245Asn) c.6796G>A (p.Asp2266Asn) c.6793G>A (p.Asp2265Asn) c.6739G>A (p.Asp2247Asn) c.6709G>A (p.Asp2237Asn) c.6664G>A (p.Asp2222Asn) c.6259G>A (p.Asp2087Asn) c.5617G>A (p.Asp1873Asn) c.3127G>A (p.Asp1043Asn) n.7042G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.71793532G= | CA1918874608 | CDH23 | c.6604G= (p.Asp2202=) c.6619G= (p.Asp2207=) c.6799G= (p.Asp2267=) c.6733G= (p.Asp2245=) c.6796G= (p.Asp2266=) c.6793G= (p.Asp2265=) c.6739G= (p.Asp2247=) c.6709G= (p.Asp2237=) c.6664G= (p.Asp2222=) c.6259G= (p.Asp2087=) c.5617G= (p.Asp1873=) c.3127G= (p.Asp1043=) n.7042G= | dbSNP |