Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178799836G>ACA309386TTNc.658C>T (p.Arg220Ter)
n.868C>T
c.703C>T (p.Arg235Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178799836G>TCA60988145TTNc.658C>A (p.Arg220=)
n.868C>A
c.703C>A (p.Arg235=)
 dbSNP

Number of alleles fetched