Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.51937570T>ACA6988565ATP7Bc.3809A>T (p.Asn1270Ile)
c.3188A>T (p.Asn1063Ile)
c.3476A>T (p.Asn1159Ile)
c.3713A>T (p.Asn1238Ile)
c.3575A>T (p.Asn1192Ile)
c.3557A>T (p.Asn1186Ile)
c.3773A>T (p.Asn1258Ile)
c.3323A>T (p.Asn1108Ile)
c.1625A>T (p.Asn542Ile)
c.1442A>T (p.Asn481Ile)
c.3674A>T (p.Asn1225Ile)
c.3626A>T (p.Asn1209Ile)
c.3395A>T (p.Asn1132Ile)
c.3296A>T (p.Asn1099Ile)
c.2477A>T (p.Asn826Ile)
n.4028A>T
c.2519A>T (p.Asn840Ile)
c.3614A>T (p.Asn1205Ile)
n.1587A>T
c.*910A>T (p.=)
n.4553A>T
n.3154A>T
c.3665A>T (p.Asn1222Ile)
dbSNP ExAC gnomAD
13g.51937570T>CCA252896ATP7Bc.3809A>G (p.Asn1270Ser)
c.3188A>G (p.Asn1063Ser)
c.3476A>G (p.Asn1159Ser)
c.3713A>G (p.Asn1238Ser)
c.3575A>G (p.Asn1192Ser)
c.3557A>G (p.Asn1186Ser)
c.3773A>G (p.Asn1258Ser)
c.3323A>G (p.Asn1108Ser)
c.1625A>G (p.Asn542Ser)
c.1442A>G (p.Asn481Ser)
c.3674A>G (p.Asn1225Ser)
c.3626A>G (p.Asn1209Ser)
c.3395A>G (p.Asn1132Ser)
c.3296A>G (p.Asn1099Ser)
c.2477A>G (p.Asn826Ser)
n.4028A>G
c.2519A>G (p.Asn840Ser)
c.3614A>G (p.Asn1205Ser)
n.1587A>G
c.*910A>G (p.=)
n.4553A>G
n.3154A>G
c.3665A>G (p.Asn1222Ser)
ClinVar dbSNP ExAC gnomAD

Number of alleles fetched