Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.18868764C>TCA16620815CERS1,GDF1c.*1221G>A (n.*1221G>A)
c.952G>A (p.Ala318Thr)
c.*1813G>A (n.*1813G>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18868764C>ACA404862022CERS1,GDF1c.*1221G>T (n.*1221G>T)
c.952G>T (p.Ala318Ser)
c.*1813G>T (n.*1813G>T)
dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched