| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.7209700T>G | CA254664 | PEX5 | c.1578T>G (p.Asn526Lys) c.1467T>G (p.Asn489Lys) c.1554T>G (p.Asn518Lys) c.1641T>G (p.Asn547Lys) c.1623T>G (p.Asn541Lys) c.1530T>G (p.Asn510Lys) c.1686T>G (p.Asn562Lys) c.1575T>G (p.Asn525Lys) c.1329T>G (p.Asn443Lys) c.1569T>G (p.Asn523Lys) c.1512T>G (p.Asn504Lys) c.1443T>G (p.Asn481Lys) c.2022T>G (p.Asn674Lys) c.1911T>G (p.Asn637Lys) c.1887T>G (p.Asn629Lys) n.2064T>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.7209700T>A | CA383737743 | PEX5 | c.1578T>A (p.Asn526Lys) c.1467T>A (p.Asn489Lys) c.1554T>A (p.Asn518Lys) c.1641T>A (p.Asn547Lys) c.1623T>A (p.Asn541Lys) c.1530T>A (p.Asn510Lys) c.1686T>A (p.Asn562Lys) c.1575T>A (p.Asn525Lys) c.1329T>A (p.Asn443Lys) c.1569T>A (p.Asn523Lys) c.1512T>A (p.Asn504Lys) c.1443T>A (p.Asn481Lys) c.2022T>A (p.Asn674Lys) c.1911T>A (p.Asn637Lys) c.1887T>A (p.Asn629Lys) n.2064T>A | ClinVar dbSNP |
| 12 | g.7209700T= | CA2014448390 | PEX5 | c.1578T= (p.Asn526=) c.1467T= (p.Asn489=) c.1554T= (p.Asn518=) c.1641T= (p.Asn547=) c.1623T= (p.Asn541=) c.1530T= (p.Asn510=) c.1686T= (p.Asn562=) c.1575T= (p.Asn525=) c.1329T= (p.Asn443=) c.1569T= (p.Asn523=) c.1512T= (p.Asn504=) c.1443T= (p.Asn481=) c.2022T= (p.Asn674=) c.1911T= (p.Asn637=) c.1887T= (p.Asn629=) n.2064T= | dbSNP |