| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.10624405C>T | CA119007 | PEX14 | c.553C>T (p.Gln185Ter) c.361C>T (p.Gln121Ter) c.595C>T (p.Gln199Ter) c.496C>T (p.Gln166Ter) c.466C>T (p.Gln156Ter) c.424C>T (p.Gln142Ter) | ClinVar dbSNP COSMIC |
| 1 | g.10624405C= | CA1140725586 | PEX14 | c.553C= (p.Gln185=) c.361C= (p.Gln121=) c.595C= (p.Gln199=) c.496C= (p.Gln166=) c.466C= (p.Gln156=) c.424C= (p.Gln142=) | dbSNP |
| 1 | g.10624405C>A | CA338334198 | PEX14 | c.553C>A (p.Gln185Lys) c.361C>A (p.Gln121Lys) c.595C>A (p.Gln199Lys) c.496C>A (p.Gln166Lys) c.466C>A (p.Gln156Lys) c.424C>A (p.Gln142Lys) | dbSNP gnomAD v4 |