Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.11113750A>TCA10585507LDLRc.1832A>T (p.Asp611Val)
c.1574A>T (p.Asp525Val)
c.1454A>T (p.Asp485Val)
c.1828A>T
c.1070A>T (p.Asp357Val)
c.1451A>T (p.Asp484Val)
c.1193A>T (p.Asp398Val)
c.295A>T
n.1724A>T
n.1691A>T
ClinVar dbSNP gnomAD v4
19g.11113750A>CCA404086605LDLRc.1832A>C (p.Asp611Ala)
c.1574A>C (p.Asp525Ala)
c.1454A>C (p.Asp485Ala)
c.1828A>C
c.1070A>C (p.Asp357Ala)
c.1451A>C (p.Asp484Ala)
c.1193A>C (p.Asp398Ala)
c.295A>C
n.1724A>C
n.1691A>C
ClinVar dbSNP

Number of alleles fetched