Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.135800639C>TCA348592490LCTc.4834G>A (p.Glu1612Lys)
c.2960-2501G>A (n.2960-2501G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.135800639C>ACA144318LCTc.4834G>T (p.Glu1612Ter)
c.2960-2501G>T (n.2960-2501G>T)
 ClinVar dbSNP

Number of alleles fetched