Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.117837145C>TCA4854266EXT1n.486G>A
c.1019G>A (p.Arg340His)
c.387G>A
c.74-1594G>A (n.74-1594G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.117837145C>ACA252308EXT1n.486G>T
c.1019G>T (p.Arg340Leu)
c.387G>T
c.74-1594G>T (n.74-1594G>T)
ClinVar dbSNP

Number of alleles fetched