Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.196677613G>ACA1305090CFHc.565G>A (p.Glu189Lys)
c.427+1548G>A (p.=)
n.626G>A
n.650G>A
dbSNP ExAC gnomAD
1g.196677613G>TCA257500CFHc.565G>T (p.Glu189Ter)
c.427+1548G>T (p.=)
n.626G>T
n.650G>T
ClinVar dbSNP

Number of alleles fetched