Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.240869246C>TCA275652AGXTc.242C>T (p.Ser81Leu)
n.262C>T
n.405+987G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.240869246C>ACA275649AGXTc.242C>A (p.Ser81Ter)
n.262C>A
n.405+987G>T
 ClinVar dbSNP

Number of alleles fetched