| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.54090041G>C | CA253347 | PCDH15 | c.1976C>G (p.Ser659Ter) c.1940C>G (p.Ser647Ter) c.1961C>G (p.Ser654Ter) c.799C>G c.1918-10617C>G (n.1918-10617C>G) c.1955C>G (p.Ser652Ter) c.1829C>G (p.Ser610Ter) c.1874C>G (p.Ser625Ter) c.1305+105642C>G (n.1305+105642C>G) c.1098+123895C>G (n.1098+123895C>G) c.773C>G (p.Ser258Ter) c.876+227230C>G (n.876+227230C>G) c.1785-10617C>G (n.1785-10617C>G) c.-24-232778C>G (n.-24-232778C>G) n.2953C>G | ClinVar dbSNP |
| 10 | g.54090041G= | CA1910927172 | PCDH15 | c.1976C= (p.Ser659=) c.1940C= (p.Ser647=) c.1961C= (p.Ser654=) c.799C= c.1918-10617C= (n.1918-10617C=) c.1955C= (p.Ser652=) c.1829C= (p.Ser610=) c.1874C= (p.Ser625=) c.1305+105642C= (n.1305+105642C=) c.1098+123895C= (n.1098+123895C=) c.773C= (p.Ser258=) c.876+227230C= (n.876+227230C=) c.1785-10617C= (n.1785-10617C=) c.-24-232778C= (n.-24-232778C=) n.2953C= | dbSNP |
| 10 | g.54090041G>T | CA376523094 | PCDH15 | c.1976C>A (p.Ser659Ter) c.1940C>A (p.Ser647Ter) c.1961C>A (p.Ser654Ter) c.799C>A c.1918-10617C>A (n.1918-10617C>A) c.1955C>A (p.Ser652Ter) c.1829C>A (p.Ser610Ter) c.1874C>A (p.Ser625Ter) c.1305+105642C>A (n.1305+105642C>A) c.1098+123895C>A (n.1098+123895C>A) c.773C>A (p.Ser258Ter) c.876+227230C>A (n.876+227230C>A) c.1785-10617C>A (n.1785-10617C>A) c.-24-232778C>A (n.-24-232778C>A) n.2953C>A | dbSNP |