Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.88643474G>TCA115452CYBAc.383C>A (p.Pro128Gln)
c.*684C>A (n.*684C>A)
c.*721C>A (n.*721C>A)
c.*390C>A (n.*390C>A)
c.494C>A (p.Pro165Gln)
c.597C>A (p.Pro199=)
c.*1186C>A (n.*1186C>A)
c.416C>A (p.Pro139Gln)
c.467C>A (p.Pro156Gln)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.88643474G>ACA397057110CYBAc.383C>T (p.Pro128Leu)
c.*684C>T (n.*684C>T)
c.*721C>T (n.*721C>T)
c.*390C>T (n.*390C>T)
c.494C>T (p.Pro165Leu)
c.597C>T (p.Pro199=)
c.*1186C>T (n.*1186C>T)
c.416C>T (p.Pro139Leu)
c.467C>T (p.Pro156Leu)
ClinVar dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched