Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.55724028G>A | CA237594921 | RDH5 | c.712G>A (p.Gly238Arg) c.592-510G>A c.421G>A (p.Gly141Arg) c.443G>A c.*2322G>A (n.*2322G>A) n.662G>A n.771G>A | dbSNP |
12 | g.55724028G>C | CA6616920 | RDH5 | c.712G>C (p.Gly238Arg) c.592-510G>C c.421G>C (p.Gly141Arg) c.443G>C c.*2322G>C (n.*2322G>C) n.662G>C n.771G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.55724028G>T | CA119196 | RDH5 | c.712G>T (p.Gly238Trp) c.592-510G>T c.421G>T (p.Gly141Trp) c.443G>T c.*2322G>T (n.*2322G>T) n.662G>T n.771G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |