Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.11549693C>ACA394763488LITAFc.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
16g.11549693C>TCA253746LITAFc.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

Number of alleles fetched