Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.11129606A>CCA10576335LDLRc.2741A>C (p.Tyr914Ser)
c.*552A>C (n.*552A>C)
c.2363A>C (p.Tyr788Ser)
c.2483A>C (p.Tyr828Ser)
c.2737A>C
c.1979A>C (p.Tyr660Ser)
c.2360A>C (p.Tyr787Ser)
c.1949A>C (p.Tyr650Ser)
c.2545A>C (p.Ile849Leu)
n.108+1952A>C
c.2405A>C (p.Tyr802Ser)
c.2102A>C (p.Tyr701Ser)
n.2817A>C
n.2460A>C
ClinVar dbSNP gnomAD v4
19g.11129606A>GCA023679LDLRc.2741A>G (p.Tyr914Cys)
c.*552A>G (n.*552A>G)
c.2363A>G (p.Tyr788Cys)
c.2483A>G (p.Tyr828Cys)
c.2737A>G
c.1979A>G (p.Tyr660Cys)
c.2360A>G (p.Tyr787Cys)
c.1949A>G (p.Tyr650Cys)
c.2545A>G (p.Ile849Val)
n.108+1952A>G
c.2405A>G (p.Tyr802Cys)
c.2102A>G (p.Tyr701Cys)
n.2817A>G
n.2460A>G
ClinVar dbSNP gnomAD v4

Number of alleles fetched