Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.54845808C>ACA254724GCH1c.586G>T (p.Ala196Ser)
n.734G>T
n.293-2754G>T
c.292G>T (p.Ala98Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.54845808C=CA2138218973GCH1c.586G= (p.Ala196=)
n.734G=
n.293-2754G=
c.292G= (p.Ala98=)
 dbSNP

Number of alleles fetched