| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.54132986A>C | CA16041371 | PCDH15 | c.1842T>G (p.Tyr614Ter) c.1806T>G (p.Tyr602Ter) c.1827T>G (p.Tyr609Ter) c.665T>G c.1821T>G (p.Tyr607Ter) c.1695T>G (p.Tyr565Ter) c.1740T>G (p.Tyr580Ter) c.1305+62697T>G (n.1305+62697T>G) c.1098+80950T>G (n.1098+80950T>G) c.639T>G (p.Tyr213Ter) c.876+184285T>G (n.876+184285T>G) c.1784+20114T>G (n.1784+20114T>G) c.-24-275723T>G (n.-24-275723T>G) n.2819T>G | ClinVar dbSNP gnomAD v4 |
| 10 | g.54132986A= | CA1910947596 | PCDH15 | c.1842T= (p.Tyr614=) c.1806T= (p.Tyr602=) c.1827T= (p.Tyr609=) c.665T= c.1821T= (p.Tyr607=) c.1695T= (p.Tyr565=) c.1740T= (p.Tyr580=) c.1305+62697T= (n.1305+62697T=) c.1098+80950T= (n.1098+80950T=) c.639T= (p.Tyr213=) c.876+184285T= (n.876+184285T=) c.1784+20114T= (n.1784+20114T=) c.-24-275723T= (n.-24-275723T=) n.2819T= | dbSNP |