| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.11549720G>T | CA344234 | LITAF | c.403C>A (p.Pro135Thr) c.404C>A (p.Pro135His) c.*42C>A (n.*42C>A) c.*18C>A (n.*18C>A) c.124C>A (p.Pro42Thr) c.*216C>A (n.*216C>A) c.222C>A n.537C>A c.493C>A (p.Pro165Thr) | ClinVar dbSNP |
| 16 | g.11549720G>A | CA344236 | LITAF | c.403C>T (p.Pro135Ser) c.404C>T (p.Pro135Leu) c.*42C>T (n.*42C>T) c.*18C>T (n.*18C>T) c.124C>T (p.Pro42Ser) c.*216C>T (n.*216C>T) c.222C>T n.537C>T c.493C>T (p.Pro165Ser) | ClinVar dbSNP |