Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.131932301C>GCA387298141PUS1c.430C>G (p.Arg144Gly)
c.346C>G (p.Arg116Gly)
c.271C>G (p.Arg91Gly)
n.457C>G
c.31C>G (p.Arg11Gly)
n.885C>G
ClinVar dbSNP
12g.131932301C>TCA115605PUS1c.430C>T (p.Arg144Trp)
c.346C>T (p.Arg116Trp)
c.271C>T (p.Arg91Trp)
n.457C>T
c.31C>T (p.Arg11Trp)
n.885C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched