| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.11553546G>C | CA253743 | LITAF | c.364C>G (p.Leu122Val) c.220+2965C>G (n.220+2965C>G) c.85C>G (p.Leu29Val) c.*177C>G (n.*177C>G) c.183C>G n.498C>G c.454C>G (p.Leu152Val) | ClinVar dbSNP |
| 16 | g.11553546G>A | CA493626462 | LITAF | c.364C>T (p.Leu122=) c.220+2965C>T (n.220+2965C>T) c.85C>T (p.Leu29=) c.*177C>T (n.*177C>T) c.183C>T n.498C>T c.454C>T (p.Leu152=) | ClinVar dbSNP gnomAD v4 |