| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.3907997A>G | CA116921 | PANK2 | c.370A>G (p.Thr124Ala) c.700A>G (p.Thr234Ala) c.*143A>G (n.*143A>G) c.197A>G c.331A>G (p.Thr111Ala) n.244A>G c.-466A>G (n.-466A>G) c.-174A>G (n.-174A>G) c.85A>G (p.Thr29Ala) n.867A>G n.861A>G n.414A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.3907997A= | CA2346795642 | PANK2 | c.370A= (p.Thr124=) c.700A= (p.Thr234=) c.*143A= (n.*143A=) c.197A= c.331A= (p.Thr111=) n.244A= c.-466A= (n.-466A=) c.-174A= (n.-174A=) c.85A= (p.Thr29=) n.867A= n.861A= n.414A= | dbSNP |