Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.5993906C>TCA228748VWFc.6554G>A (p.Arg2185Gln)
n.449G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5993906C>ACA383490752VWFc.6554G>T (p.Arg2185Leu)
n.449G>T
dbSNP gnomAD v4
12g.5993906C=CA2013859871VWFc.6554G= (p.Arg2185=)
n.449G=
dbSNP

Number of alleles fetched