| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.2406792dup | CA118509 | PEX10 | c.764dup (p.Leu256AlafsTer?) c.704dup (p.Leu236AlafsTer?) c.658dup c.*70dup (n.*70dup) c.761dup (p.Leu255AlafsTer?) c.329dup (p.Leu111AlafsTer?) n.820dup n.769dup c.272dup (p.Leu92AlafsTer?) n.819dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.2406792T= | CA1140725543 | PEX10 | c.764A= (p.Gln255=) c.704A= (p.Gln235=) c.658A= c.*70A= (n.*70A=) c.761A= (p.Gln254=) c.329A= (p.Gln110=) n.820A= n.769A= c.272A= (p.Gln91=) n.819A= | dbSNP |