Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.11105379C>G | CA10584937 | LDLR | c.731C>G (p.Ser244Cys) c.473C>G (p.Ser158Cys) c.727C>G c.314-2013C>G (n.314-2013C>G) c.350C>G (p.Ser117Cys) c.314-1186C>G (n.314-1186C>G) c.73C>G n.623C>G n.590C>G | ClinVar dbSNP |
19 | g.11105379C>T | CA305296813 | LDLR | c.731C>T (p.Ser244Phe) c.473C>T (p.Ser158Phe) c.727C>T c.314-2013C>T (n.314-2013C>T) c.350C>T (p.Ser117Phe) c.314-1186C>T (n.314-1186C>T) c.73C>T n.623C>T n.590C>T | dbSNP gnomAD v4 |