| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.54132877G>A | CA16041369 | PCDH15 | c.1951C>T (p.Gln651Ter) c.1915C>T (p.Gln639Ter) c.1936C>T (p.Gln646Ter) c.774C>T c.1930C>T (p.Gln644Ter) c.1804C>T (p.Gln602Ter) c.1849C>T (p.Gln617Ter) c.1305+62806C>T (n.1305+62806C>T) c.1098+81059C>T (n.1098+81059C>T) c.748C>T (p.Gln250Ter) c.876+184394C>T (n.876+184394C>T) c.1784+20223C>T (n.1784+20223C>T) c.-24-275614C>T (n.-24-275614C>T) n.2928C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.54132877G= | CA1910947366 | PCDH15 | c.1951C= (p.Gln651=) c.1915C= (p.Gln639=) c.1936C= (p.Gln646=) c.774C= c.1930C= (p.Gln644=) c.1804C= (p.Gln602=) c.1849C= (p.Gln617=) c.1305+62806C= (n.1305+62806C=) c.1098+81059C= (n.1098+81059C=) c.748C= (p.Gln250=) c.876+184394C= (n.876+184394C=) c.1784+20223C= (n.1784+20223C=) c.-24-275614C= (n.-24-275614C=) n.2928C= | dbSNP |