| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.42965712G>A | CA201002 | PEX6 | c.2440C>T (p.Arg814Ter) c.2193C>T (p.Gly731=) c.2176C>T (p.Arg726Ter) n.2286C>T c.2356C>T (p.Arg786Ter) n.3402C>T n.2224C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.42965712G= | CA1624308287 | PEX6 | c.2440C= (p.Arg814=) c.2193C= (p.Gly731=) c.2176C= (p.Arg726=) n.2286C= c.2356C= (p.Arg786=) n.3402C= n.2224C= | dbSNP |
| 6 | g.42965712G>C | CA364151391 | PEX6 | c.2440C>G (p.Arg814Gly) c.2193C>G (p.Gly731=) c.2176C>G (p.Arg726Gly) n.2286C>G c.2356C>G (p.Arg786Gly) n.3402C>G n.2224C>G | dbSNP |