Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.50921030C>TCA341926PYGLc.698G>A (p.Gly233Asp)
c.596G>A (p.Gly199Asp)
n.499G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
14g.50921030C=CA2136421574PYGLc.698G= (p.Gly233=)
c.596G= (p.Gly199=)
n.499G=
dbSNP

Number of alleles fetched