Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.71216776C>T | CA119167 | EYA1 | c.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 |
8 | g.71216776C= | CA1792692850 | EYA1 | c.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 |
8 | g.71216776C>G | CA371466752 | EYA1 | c.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 |