Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.120650843G>A | CA277986 | HGD | c.365C>T (p.Ala122Val) c.242C>T (p.Ala81Val) n.473C>T c.-59C>T (n.-59C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120650843G>T | CA354078118 | HGD | c.365C>A (p.Ala122Asp) c.242C>A (p.Ala81Asp) n.473C>A c.-59C>A (n.-59C>A) | ClinVar dbSNP |