Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.43111239A>GCA007516RETc.900A>G (p.Ala300=)
n.870A>G
n.57A>G
c.1296A>G (p.Ala432=)
c.658A>G (p.Ile220Val)
c.106A>G (p.Ile36Val)
c.74-860A>G (n.74-860A>G)
c.1289+7A>G (n.1289+7A>G)
c.534A>G (p.Ala178=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43111239A>TCA469479620RETc.900A>T (p.Ala300=)
n.870A>T
n.57A>T
c.1296A>T (p.Ala432=)
c.658A>T (p.Ile220Phe)
c.106A>T (p.Ile36Phe)
c.74-860A>T (n.74-860A>T)
c.1289+7A>T (n.1289+7A>T)
c.534A>T (p.Ala178=)
dbSNP

Number of alleles fetched