| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.38112547G>T | CA514541859 | PLA2G6 | c.2233C>A (p.Arg745=) c.*1431C>A (n.*1431C>A) c.*1091C>A (n.*1091C>A) c.2095C>A (p.Arg699=) c.*1972C>A (n.*1972C>A) c.*2092C>A (n.*2092C>A) c.2275C>A (p.Arg759=) n.2165C>A c.*1902C>A (n.*1902C>A) c.2071C>A (p.Arg691=) n.309C>A c.2128C>A (p.Arg710=) c.1699C>A (p.Arg567=) c.1555C>A (p.Arg519=) c.1537C>A (p.Arg513=) n.2416C>A n.2411C>A n.2377C>A | dbSNP gnomAD v4 |
| 22 | g.38112547G>A | CA173258 | PLA2G6 | c.2233C>T (p.Arg745Trp) c.*1431C>T (n.*1431C>T) c.*1091C>T (n.*1091C>T) c.2095C>T (p.Arg699Trp) c.*1972C>T (n.*1972C>T) c.*2092C>T (n.*2092C>T) c.2275C>T (p.Arg759Trp) n.2165C>T c.*1902C>T (n.*1902C>T) c.2071C>T (p.Arg691Trp) n.309C>T c.2128C>T (p.Arg710Trp) c.1699C>T (p.Arg567Trp) c.1555C>T (p.Arg519Trp) c.1537C>T (p.Arg513Trp) n.2416C>T n.2411C>T n.2377C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |