| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.20699417A>C | CA389120681 | EGILA,RNASE4 | c.46A>C (p.Thr16Pro) c.*53A>C (n.*53A>C) n.277T>G | dbSNP gnomAD v4 |
| 14 | g.20699417A>G | CA257421671 | EGILA,RNASE4 | c.46A>G (p.Thr16Ala) c.*53A>G (n.*53A>G) n.277T>C | dbSNP |
| 14 | g.20699417A>T | CA7083230 | EGILA,RNASE4 | c.46A>T (p.Thr16Ser) c.*53A>T (n.*53A>T) n.277T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |