Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.54937957C>TCA8969974CCDC68c.345G>A (p.Lys115=)
n.726G>A
c.205-999G>A (n.205-999G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.54937957C>ACA402521179CCDC68c.345G>T (p.Lys115Asn)
n.726G>T
c.205-999G>T (n.205-999G>T)
 dbSNP

Number of alleles fetched