| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.2935160G>A | CA341531 | ARSL | c.1442C>T (p.Thr481Met) c.1517C>T (p.Thr506Met) c.1319C>T (p.Thr440Met) c.881C>T (p.Thr294Met) n.1222C>T c.1430C>T (p.Thr477Met) c.995C>T (p.Thr332Met) c.1280C>T (p.Thr427Met) c.*415C>T (n.*415C>T) c.1439C>T (p.Thr480Met) c.1307C>T (p.Thr436Met) c.1469C>T (p.Thr490Met) c.956C>T (p.Thr319Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.2935160G= | CA2412580577 | ARSL | c.1442C= (p.Thr481=) c.1517C= (p.Thr506=) c.1319C= (p.Thr440=) c.881C= (p.Thr294=) n.1222C= c.1430C= (p.Thr477=) c.995C= (p.Thr332=) c.1280C= (p.Thr427=) c.*415C= (n.*415C=) c.1439C= (p.Thr480=) c.1307C= (p.Thr436=) c.1469C= (p.Thr490=) c.956C= (p.Thr319=) | dbSNP |