Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.111585362C>TCA116979CD96c.839C>T (p.Thr280Met)
c.791C>T (p.Thr264Met)
n.970C>T
n.922C>T
n.961C>T
c.544-12758C>T (n.544-12758C>T)
n.843C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.111585362C>ACA80752236CD96c.839C>A (p.Thr280Lys)
c.791C>A (p.Thr264Lys)
n.970C>A
n.922C>A
n.961C>A
c.544-12758C>A (n.544-12758C>A)
n.843C>A
dbSNP gnomAD v4 COSMIC

Number of alleles fetched