Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.40023239A>TCA500179663MED24c.2142T>A (p.Ile714=)
c.2103T>A (p.Ile701=)
c.2217T>A (p.Ile739=)
n.413T>A
c.2199T>A (p.Ile733=)
c.1992T>A (p.Ile664=)
c.*1765T>A (n.*1765T>A)
n.452T>A
c.274-3947T>A (n.274-3947T>A)
n.2381T>A
c.2253T>A (p.Ile751=)
c.2178T>A (p.Ile726=)
c.2310T>A (p.Ile770=)
c.2235T>A (p.Ile745=)
c.1887T>A (p.Ile629=)
n.2272T>A
n.2153T>A
dbSNP
17g.40023239A>CCA399289332MED24c.2142T>G (p.Ile714Met)
c.2103T>G (p.Ile701Met)
c.2217T>G (p.Ile739Met)
n.413T>G
c.2199T>G (p.Ile733Met)
c.1992T>G (p.Ile664Met)
c.*1765T>G (n.*1765T>G)
n.452T>G
c.274-3947T>G (n.274-3947T>G)
n.2381T>G
c.2253T>G (p.Ile751Met)
c.2178T>G (p.Ile726Met)
c.2310T>G (p.Ile770Met)
c.2235T>G (p.Ile745Met)
c.1887T>G (p.Ile629Met)
n.2272T>G
n.2153T>G
dbSNP
17g.40023239A>GCA8538264MED24c.2142T>C (p.Ile714=)
c.2103T>C (p.Ile701=)
c.2217T>C (p.Ile739=)
n.413T>C
c.2199T>C (p.Ile733=)
c.1992T>C (p.Ile664=)
c.*1765T>C (n.*1765T>C)
n.452T>C
c.274-3947T>C (n.274-3947T>C)
n.2381T>C
c.2253T>C (p.Ile751=)
c.2178T>C (p.Ile726=)
c.2310T>C (p.Ile770=)
c.2235T>C (p.Ile745=)
c.1887T>C (p.Ile629=)
n.2272T>C
n.2153T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched