Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.11549693C>A | CA394763488 | LITAF | c.430G>T (p.Val144Leu) c.431G>T (p.Arg144Leu) c.*69G>T (n.*69G>T) c.*45G>T (n.*45G>T) c.151G>T (p.Val51Leu) c.*243G>T (n.*243G>T) c.249G>T n.564G>T c.520G>T (p.Val174Leu) | ClinVar dbSNP |
16 | g.11549693C>T | CA253746 | LITAF | c.430G>A (p.Val144Met) c.431G>A (p.Arg144His) c.*69G>A (n.*69G>A) c.*45G>A (n.*45G>A) c.151G>A (p.Val51Met) c.*243G>A (n.*243G>A) c.249G>A n.564G>A c.520G>A (p.Val174Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |