Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.68363818C>A | CA381611045 | LRP5 | c.758C>A (p.Thr253Lys) c.-1008C>A (n.-1008C>A) c.785C>A (p.Thr262Lys) n.800C>A | ClinVar dbSNP |
11 | g.68363818C>T | CA118100 | LRP5 | c.758C>T (p.Thr253Ile) c.-1008C>T (n.-1008C>T) c.785C>T (p.Thr262Ile) n.800C>T | ClinVar dbSNP |
11 | g.68363818C= | CA1980645870 | LRP5 | c.758C= (p.Thr253=) c.-1008C= (n.-1008C=) c.785C= (p.Thr262=) n.800C= | dbSNP |