Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.133436865C>GCA375391554ADAMTS13c.1345C>G (p.Gln449Glu)
c.1252C>G (p.Gln418Glu)
c.601C>G (p.Gln201Glu)
c.*149C>G (n.*149C>G)
n.974-2501C>G
c.*629C>G (n.*629C>G)
n.993-2501C>G
c.955C>G (p.Gln319Glu)
c.361C>G (p.Gln121Glu)
c.355C>G (p.Gln119Glu)
c.10C>G (p.Gln4Glu)
c.131C>G (p.Thr44Arg)
c.687-7998C>G (n.687-7998C>G)
c.1333C>G (p.Gln445Glu)
n.2570C>G
n.995-2501C>G
dbSNP gnomAD v4
9g.133436865C>TCA117772ADAMTS13c.1345C>T (p.Gln449Ter)
c.1252C>T (p.Gln418Ter)
c.601C>T (p.Gln201Ter)
c.*149C>T (n.*149C>T)
n.974-2501C>T
c.*629C>T (n.*629C>T)
n.993-2501C>T
c.955C>T (p.Gln319Ter)
c.361C>T (p.Gln121Ter)
c.355C>T (p.Gln119Ter)
c.10C>T (p.Gln4Ter)
c.131C>T (p.Thr44Ile)
c.687-7998C>T (n.687-7998C>T)
c.1333C>T (p.Gln445Ter)
n.2570C>T
n.995-2501C>T
ClinVar dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched