Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.17498195C>GCA142347USH1Cc.1500G>C (p.Glu500Asp)
c.1557G>C (p.Glu519Asp)
c.2457G>C (p.Glu819Asp)
n.1592G>C
c.2481G>C (p.Glu827Asp)
c.1710G>C (p.Glu570Asp)
n.1716G>C
n.2457G>C (p.Glu819Asp)
c.*271G>C (p.=)
c.1464G>C (p.Glu488Asp)
n.441G>C
ClinVar dbSNP ExAC gnomAD
11g.17498195C>ACA218483070USH1Cc.1500G>T (p.Glu500Asp)
c.1557G>T (p.Glu519Asp)
c.2457G>T (p.Glu819Asp)
n.1592G>T
c.2481G>T (p.Glu827Asp)
c.1710G>T (p.Glu570Asp)
n.1716G>T
n.2457G>T (p.Glu819Asp)
c.*271G>T (p.=)
c.1464G>T (p.Glu488Asp)
n.441G>T
dbSNP gnomAD

Number of alleles fetched