| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.54317414G>A | CA253343 | PCDH15 | c.748C>T (p.Arg250Ter) c.733C>T (p.Arg245Ter) c.622C>T (p.Arg208Ter) c.667C>T (p.Arg223Ter) c.-90-121525C>T (n.-90-121525C>T) c.-24-460151C>T (n.-24-460151C>T) n.1746C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 10 | g.54317414G>T | CA5506600 | PCDH15 | c.748C>A (p.Arg250=) c.733C>A (p.Arg245=) c.622C>A (p.Arg208=) c.667C>A (p.Arg223=) c.-90-121525C>A (n.-90-121525C>A) c.-24-460151C>A (n.-24-460151C>A) n.1746C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 10 | g.54317414G= | CA1911038813 | PCDH15 | c.748C= (p.Arg250=) c.733C= (p.Arg245=) c.622C= (p.Arg208=) c.667C= (p.Arg223=) c.-90-121525C= (n.-90-121525C=) c.-24-460151C= (n.-24-460151C=) n.1746C= | dbSNP |
| 10 | g.54317414G>C | CA376541043 | PCDH15 | c.748C>G (p.Arg250Gly) c.733C>G (p.Arg245Gly) c.622C>G (p.Arg208Gly) c.667C>G (p.Arg223Gly) c.-90-121525C>G (n.-90-121525C>G) c.-24-460151C>G (n.-24-460151C>G) n.1746C>G | dbSNP |