Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.3254625T>GCA276902893MEFVc.443A>C (p.Glu148Ala)
c.277+1686A>C (n.277+1686A>C)
n.632A>C
dbSNP gnomAD v4
16g.3254625T>ACA280120MEFVc.443A>T (p.Glu148Val)
c.277+1686A>T (n.277+1686A>T)
n.632A>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched