| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.54020319G>A | CA5505972 | PCDH15 | c.2660C>T (p.Ser887Leu) c.2624C>T (p.Ser875Leu) c.2645C>T (p.Ser882Leu) c.1483C>T c.*579C>T (n.*579C>T) c.2639C>T (p.Ser880Leu) c.2513C>T (p.Ser838Leu) c.2558C>T (p.Ser853Leu) c.1305+175364C>T (n.1305+175364C>T) c.1098+193617C>T (n.1098+193617C>T) c.2091+59012C>T (n.2091+59012C>T) c.1457C>T (p.Ser486Leu) c.877-179823C>T (n.877-179823C>T) c.2411C>T (p.Ser804Leu) c.-24-163056C>T (n.-24-163056C>T) n.3637C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 10 | g.54020319G>T | CA16041368 | PCDH15 | c.2660C>A (p.Ser887Ter) c.2624C>A (p.Ser875Ter) c.2645C>A (p.Ser882Ter) c.1483C>A c.*579C>A (n.*579C>A) c.2639C>A (p.Ser880Ter) c.2513C>A (p.Ser838Ter) c.2558C>A (p.Ser853Ter) c.1305+175364C>A (n.1305+175364C>A) c.1098+193617C>A (n.1098+193617C>A) c.2091+59012C>A (n.2091+59012C>A) c.1457C>A (p.Ser486Ter) c.877-179823C>A (n.877-179823C>A) c.2411C>A (p.Ser804Ter) c.-24-163056C>A (n.-24-163056C>A) n.3637C>A | ClinVar dbSNP gnomAD v4 |
| 10 | g.54020319G= | CA1910860719 | PCDH15 | c.2660C= (p.Ser887=) c.2624C= (p.Ser875=) c.2645C= (p.Ser882=) c.1483C= c.*579C= (n.*579C=) c.2639C= (p.Ser880=) c.2513C= (p.Ser838=) c.2558C= (p.Ser853=) c.1305+175364C= (n.1305+175364C=) c.1098+193617C= (n.1098+193617C=) c.2091+59012C= (n.2091+59012C=) c.1457C= (p.Ser486=) c.877-179823C= (n.877-179823C=) c.2411C= (p.Ser804=) c.-24-163056C= (n.-24-163056C=) n.3637C= | dbSNP |