Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.71216776C>TCA119167EYA1c.1276G>A (p.Gly426Ser)
c.1174G>A (p.Gly392Ser)
c.1171G>A (p.Gly391Ser)
c.*555G>A (n.*555G>A)
c.666G>A
n.1739G>A
c.*953G>A (n.*953G>A)
c.1363G>A (p.Gly455Ser)
c.1258G>A (p.Gly420Ser)
n.346G>A
c.1255G>A (p.Gly419Ser)
c.1177G>A (p.Gly393Ser)
c.1273G>A (p.Gly425Ser)
c.*221G>A (n.*221G>A)
n.1771G>A
c.910G>A (p.Gly304Ser)
c.1348G>A (p.Gly450Ser)
c.1261G>A (p.Gly421Ser)
c.1213G>A (p.Gly405Ser)
c.925G>A (p.Gly309Ser)
c.1360G>A (p.Gly454Ser)
c.1345G>A (p.Gly449Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.71216776C=CA1792692850EYA1c.1276G= (p.Gly426=)
c.1174G= (p.Gly392=)
c.1171G= (p.Gly391=)
c.*555G= (n.*555G=)
c.666G=
n.1739G=
c.*953G= (n.*953G=)
c.1363G= (p.Gly455=)
c.1258G= (p.Gly420=)
n.346G=
c.1255G= (p.Gly419=)
c.1177G= (p.Gly393=)
c.1273G= (p.Gly425=)
c.*221G= (n.*221G=)
n.1771G=
c.910G= (p.Gly304=)
c.1348G= (p.Gly450=)
c.1261G= (p.Gly421=)
c.1213G= (p.Gly405=)
c.925G= (p.Gly309=)
c.1360G= (p.Gly454=)
c.1345G= (p.Gly449=)
dbSNP
8g.71216776C>GCA371466752EYA1c.1276G>C (p.Gly426Arg)
c.1174G>C (p.Gly392Arg)
c.1171G>C (p.Gly391Arg)
c.*555G>C (n.*555G>C)
c.666G>C
n.1739G>C
c.*953G>C (n.*953G>C)
c.1363G>C (p.Gly455Arg)
c.1258G>C (p.Gly420Arg)
n.346G>C
c.1255G>C (p.Gly419Arg)
c.1177G>C (p.Gly393Arg)
c.1273G>C (p.Gly425Arg)
c.*221G>C (n.*221G>C)
n.1771G>C
c.910G>C (p.Gly304Arg)
c.1348G>C (p.Gly450Arg)
c.1261G>C (p.Gly421Arg)
c.1213G>C (p.Gly405Arg)
c.925G>C (p.Gly309Arg)
c.1360G>C (p.Gly454Arg)
c.1345G>C (p.Gly449Arg)
dbSNP

Number of alleles fetched