Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.11105588G>CCA044313LDLRc.682G>C (p.Glu228Gln)
c.559G>C (p.Glu187Gln)
c.314-1804G>C (p.=)
c.314-977G>C (p.=)
n.832G>C
c.682G>C
n.799G>C
n.936G>C
n.282G>C
ClinVar dbSNP ExAC gnomAD
19g.11105588G>TCA044327LDLRc.682G>T (p.Glu228Ter)
c.559G>T (p.Glu187Ter)
c.314-1804G>T (p.=)
c.314-977G>T (p.=)
n.832G>T
c.682G>T
n.799G>T
n.936G>T
n.282G>T
ClinVar dbSNP ExAC gnomAD
19g.11105588G>ACA023749LDLRc.682G>A (p.Glu228Lys)
c.559G>A (p.Glu187Lys)
c.314-1804G>A (p.=)
c.314-977G>A (p.=)
n.832G>A
c.682G>A
n.799G>A
n.936G>A
n.282G>A
ClinVar dbSNP gnomAD COSMIC

Number of alleles fetched