Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.157463303C>TCA251936ADAM19,NIPAL4c.247C>T (p.Arg83Ter)
c.433C>T (p.Arg145Ter)
c.*1741+24962G>A (n.*1741+24962G>A)
n.345C>T (p.Cys115=)
n.461C>T
n.352C>T
c.-63C>T (n.-63C>T)
c.-210C>T (n.-210C>T)
ClinVar dbSNP ExAC gnomAD
5g.157463303C>ACA3534557ADAM19,NIPAL4c.247C>A (p.Arg83=)
c.433C>A (p.Arg145=)
c.*1741+24962G>T (n.*1741+24962G>T)
n.345C>A (p.Cys115Ter)
n.461C>A
n.352C>A
c.-63C>A (n.-63C>A)
c.-210C>A (n.-210C>A)
dbSNP ExAC gnomAD

Number of alleles fetched