| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11120507A>G | CA16602347 | LDLR | c.2383A>G (p.Arg795Gly) c.*194A>G (n.*194A>G) c.2005A>G (p.Arg669Gly) c.2125A>G (p.Arg709Gly) c.2379A>G c.1621A>G (p.Arg541Gly) c.2002A>G (p.Arg668Gly) c.1606+274A>G (n.1606+274A>G) c.1744A>G (p.Arg582Gly) n.2135A>G n.2242A>G n.2102A>G | ClinVar dbSNP gnomAD v4 |
| 19 | g.11120507A= | CA2322775653 | LDLR | c.2383A= (p.Arg795=) c.*194A= (n.*194A=) c.2005A= (p.Arg669=) c.2125A= (p.Arg709=) c.2379A= c.1621A= (p.Arg541=) c.2002A= (p.Arg668=) c.1606+274A= (n.1606+274A=) c.1744A= (p.Arg582=) n.2135A= n.2242A= n.2102A= | dbSNP |