Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.17283204_17283223delinsGGCCCCCACTCTCACCTGCACA2325780412ANKLE1c.461-21_461-2delinsGGCCCCCACTCTCACCTGCA (n.461-21_461-2delinsGGCCCCCACTCTCACCTGCA)
n.678-21_678-2delinsGGCCCCCACTCTCACCTGCA
c.428-21_428-2delinsGGCCCCCACTCTCACCTGCA (n.428-21_428-2delinsGGCCCCCACTCTCACCTGCA)
c.623-21_623-2delinsGGCCCCCACTCTCACCTGCA (n.623-21_623-2delinsGGCCCCCACTCTCACCTGCA)
c.*360-21_*360-2delinsGGCCCCCACTCTCACCTGCA (n.*360-21_*360-2delinsGGCCCCCACTCTCACCTGCA)
n.574-21_574-2delinsGGCCCCCACTCTCACCTGCA
c.463-21_463-2delinsGGCCCCCACTCTCACCTGCA
c.590-21_590-2delinsGGCCCCCACTCTCACCTGCA (n.590-21_590-2delinsGGCCCCCACTCTCACCTGCA)
c.527-21_527-2delinsGGCCCCCACTCTCACCTGCA (n.527-21_527-2delinsGGCCCCCACTCTCACCTGCA)
n.737-21_737-2delinsGGCCCCCACTCTCACCTGCA
c.419-21_419-2delinsGGCCCCCACTCTCACCTGCA (n.419-21_419-2delinsGGCCCCCACTCTCACCTGCA)
n.481-21_481-2delinsGGCCCCCACTCTCACCTGCA
19g.17283210_17283228delCA632133548ANKLE1c.461-15_464del
n.678-15_681del
c.428-15_431del
c.623-15_626del
c.*360-15_*363del
n.574-15_577del
c.463-15_466del
c.590-15_593del
c.527-15_530del
n.737-15_740del
c.419-15_422del
n.481-15_484del
 dbSNP gnomAD v2 gnomAD v4
19g.17283217A=CA2325780422ANKLE1c.461-8A= (n.461-8A=)
n.678-8A=
c.428-8A= (n.428-8A=)
c.623-8A= (n.623-8A=)
c.*360-8A= (n.*360-8A=)
n.574-8A=
c.463-8A=
c.590-8A= (n.590-8A=)
c.527-8A= (n.527-8A=)
n.737-8A=
c.419-8A= (n.419-8A=)
n.481-8A=
19g.17283217A>CCA2583322987ANKLE1c.461-8A>C (n.461-8A>C)
n.678-8A>C
c.428-8A>C (n.428-8A>C)
c.623-8A>C (n.623-8A>C)
c.*360-8A>C (n.*360-8A>C)
n.574-8A>C
c.463-8A>C
c.590-8A>C (n.590-8A>C)
c.527-8A>C (n.527-8A>C)
n.737-8A>C
c.419-8A>C (n.419-8A>C)
n.481-8A>C
 gnomAD v4
19g.17283217A>TCA632133551ANKLE1c.461-8A>T (n.461-8A>T)
n.678-8A>T
c.428-8A>T (n.428-8A>T)
c.623-8A>T (n.623-8A>T)
c.*360-8A>T (n.*360-8A>T)
n.574-8A>T
c.463-8A>T
c.590-8A>T (n.590-8A>T)
c.527-8A>T (n.527-8A>T)
n.737-8A>T
c.419-8A>T (n.419-8A>T)
n.481-8A>T
 dbSNP gnomAD v2 gnomAD v4
19g.17283218C>TCA2583322988ANKLE1c.461-7C>T (n.461-7C>T)
n.678-7C>T
c.428-7C>T (n.428-7C>T)
c.623-7C>T (n.623-7C>T)
c.*360-7C>T (n.*360-7C>T)
n.574-7C>T
c.463-7C>T
c.590-7C>T (n.590-7C>T)
c.527-7C>T (n.527-7C>T)
n.737-7C>T
c.419-7C>T (n.419-7C>T)
n.481-7C>T
 gnomAD v4
19g.17283221G>ACA9291115ANKLE1c.461-4G>A (n.461-4G>A)
n.678-4G>A
c.428-4G>A (n.428-4G>A)
c.623-4G>A (n.623-4G>A)
c.*360-4G>A (n.*360-4G>A)
n.574-4G>A
c.463-4G>A
c.590-4G>A (n.590-4G>A)
c.527-4G>A (n.527-4G>A)
n.737-4G>A
c.419-4G>A (n.419-4G>A)
n.481-4G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.17283221G=CA2325780423ANKLE1c.461-4G= (n.461-4G=)
n.678-4G=
c.428-4G= (n.428-4G=)
c.623-4G= (n.623-4G=)
c.*360-4G= (n.*360-4G=)
n.574-4G=
c.463-4G=
c.590-4G= (n.590-4G=)
c.527-4G= (n.527-4G=)
n.737-4G=
c.419-4G= (n.419-4G=)
n.481-4G=
19g.17283222C>ACA2583322989ANKLE1c.461-3C>A (n.461-3C>A)
n.678-3C>A
c.428-3C>A (n.428-3C>A)
c.623-3C>A (n.623-3C>A)
c.*360-3C>A (n.*360-3C>A)
n.574-3C>A
c.463-3C>A
c.590-3C>A (n.590-3C>A)
c.527-3C>A (n.527-3C>A)
n.737-3C>A
c.419-3C>A (n.419-3C>A)
n.481-3C>A
 gnomAD v4
19g.17283223A=CA2325780424ANKLE1c.461-2A= (n.461-2A=)
n.678-2A=
c.428-2A= (n.428-2A=)
c.623-2A= (n.623-2A=)
c.*360-2A= (n.*360-2A=)
n.574-2A=
c.463-2A=
c.590-2A= (n.590-2A=)
c.527-2A= (n.527-2A=)
n.737-2A=
c.419-2A= (n.419-2A=)
n.481-2A=
19g.17283223A>CCA306086055ANKLE1c.461-2A>C (n.461-2A>C)
n.678-2A>C
c.428-2A>C (n.428-2A>C)
c.623-2A>C (n.623-2A>C)
c.*360-2A>C (n.*360-2A>C)
n.574-2A>C
c.463-2A>C
c.590-2A>C (n.590-2A>C)
c.527-2A>C (n.527-2A>C)
n.737-2A>C
c.419-2A>C (n.419-2A>C)
n.481-2A>C
 dbSNP gnomAD v2 gnomAD v4
19g.17283223A>GCA9291116ANKLE1c.461-2A>G (n.461-2A>G)
n.678-2A>G
c.428-2A>G (n.428-2A>G)
c.623-2A>G (n.623-2A>G)
c.*360-2A>G (n.*360-2A>G)
n.574-2A>G
c.463-2A>G
c.590-2A>G (n.590-2A>G)
c.527-2A>G (n.527-2A>G)
n.737-2A>G
c.419-2A>G (n.419-2A>G)
n.481-2A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.17283223A>TCA404744555ANKLE1c.461-2A>T (n.461-2A>T)
n.678-2A>T
c.428-2A>T (n.428-2A>T)
c.623-2A>T (n.623-2A>T)
c.*360-2A>T (n.*360-2A>T)
n.574-2A>T
c.463-2A>T
c.590-2A>T (n.590-2A>T)
c.527-2A>T (n.527-2A>T)
n.737-2A>T
c.419-2A>T (n.419-2A>T)
n.481-2A>T
19g.17283224G>ACA404744558ANKLE1c.461-1G>A (n.461-1G>A)
n.678-1G>A
c.428-1G>A (n.428-1G>A)
c.623-1G>A (n.623-1G>A)
c.*360-1G>A (n.*360-1G>A)
n.574-1G>A
c.463-1G>A
c.590-1G>A (n.590-1G>A)
c.527-1G>A (n.527-1G>A)
n.737-1G>A
c.419-1G>A (n.419-1G>A)
n.481-1G>A
19g.17283224G>CCA404744557ANKLE1c.461-1G>C (n.461-1G>C)
n.678-1G>C
c.428-1G>C (n.428-1G>C)
c.623-1G>C (n.623-1G>C)
c.*360-1G>C (n.*360-1G>C)
n.574-1G>C
c.463-1G>C
c.590-1G>C (n.590-1G>C)
c.527-1G>C (n.527-1G>C)
n.737-1G>C
c.419-1G>C (n.419-1G>C)
n.481-1G>C
19g.17283224G>TCA404744556ANKLE1c.461-1G>T (n.461-1G>T)
n.678-1G>T
c.428-1G>T (n.428-1G>T)
c.623-1G>T (n.623-1G>T)
c.*360-1G>T (n.*360-1G>T)
n.574-1G>T
c.463-1G>T
c.590-1G>T (n.590-1G>T)
c.527-1G>T (n.527-1G>T)
n.737-1G>T
c.419-1G>T (n.419-1G>T)
n.481-1G>T
19g.17283227_17283233delCA2583322990ANKLE1c.463_469del
n.680_686del
c.430_436del
c.625_631del
c.*362_*368del
n.576_582del
c.465_471del
c.592_598del
c.529_535del
n.739_745del
c.421_427del
n.483_489del
 gnomAD v4
19g.17283225C>ACA404744559ANKLE1c.461C>A (p.Thr154Asn)
n.678C>A
c.428C>A (p.Thr143Asn)
c.623C>A (p.Thr208Asn)
c.*360C>A (n.*360C>A)
n.574C>A
c.463C>A
c.590C>A (p.Thr197Asn)
c.527C>A (p.Thr176Asn)
n.737C>A
c.419C>A (p.Thr140Asn)
n.481C>A
 gnomAD v4
19g.17283225C>GCA404744560ANKLE1c.461C>G (p.Thr154Ser)
n.678C>G
c.428C>G (p.Thr143Ser)
c.623C>G (p.Thr208Ser)
c.*360C>G (n.*360C>G)
n.574C>G
c.463C>G
c.590C>G (p.Thr197Ser)
c.527C>G (p.Thr176Ser)
n.737C>G
c.419C>G (p.Thr140Ser)
n.481C>G
19g.17283225C>TCA404744561ANKLE1c.461C>T (p.Thr154Ile)
n.678C>T
c.428C>T (p.Thr143Ile)
c.623C>T (p.Thr208Ile)
c.*360C>T (n.*360C>T)
n.574C>T
c.463C>T
c.590C>T (p.Thr197Ile)
c.527C>T (p.Thr176Ile)
n.737C>T
c.419C>T (p.Thr140Ile)
n.481C>T
19g.17283226C>ACA506095408ANKLE1c.462C>A (p.Thr154=)
n.679C>A
c.429C>A (p.Thr143=)
c.624C>A (p.Thr208=)
c.*361C>A (n.*361C>A)
n.575C>A
c.464C>A
c.591C>A (p.Thr197=)
c.528C>A (p.Thr176=)
n.738C>A
c.420C>A (p.Thr140=)
n.482C>A
19g.17283226C>GCA506095411ANKLE1c.462C>G (p.Thr154=)
n.679C>G
c.429C>G (p.Thr143=)
c.624C>G (p.Thr208=)
c.*361C>G (n.*361C>G)
n.575C>G
c.464C>G
c.591C>G (p.Thr197=)
c.528C>G (p.Thr176=)
n.738C>G
c.420C>G (p.Thr140=)
n.482C>G
19g.17283226C>TCA506095410ANKLE1c.462C>T (p.Thr154=)
n.679C>T
c.429C>T (p.Thr143=)
c.624C>T (p.Thr208=)
c.*361C>T (n.*361C>T)
n.575C>T
c.464C>T
c.591C>T (p.Thr197=)
c.528C>T (p.Thr176=)
n.738C>T
c.420C>T (p.Thr140=)
n.482C>T
19g.17283227C>ACA404744562ANKLE1c.463C>A (p.Pro155Thr)
n.680C>A
c.430C>A (p.Pro144Thr)
c.625C>A (p.Pro209Thr)
c.*362C>A (n.*362C>A)
n.576C>A
c.465C>A
c.592C>A (p.Pro198Thr)
c.529C>A (p.Pro177Thr)
n.739C>A
c.421C>A (p.Pro141Thr)
n.483C>A
19g.17283227C=CA2325780425ANKLE1c.463C= (p.Pro155=)
n.680C=
c.430C= (p.Pro144=)
c.625C= (p.Pro209=)
c.*362C= (n.*362C=)
n.576C=
c.465C=
c.592C= (p.Pro198=)
c.529C= (p.Pro177=)
n.739C=
c.421C= (p.Pro141=)
n.483C=
19g.17283227C>GCA404744563ANKLE1c.463C>G (p.Pro155Ala)
n.680C>G
c.430C>G (p.Pro144Ala)
c.625C>G (p.Pro209Ala)
c.*362C>G (n.*362C>G)
n.576C>G
c.465C>G
c.592C>G (p.Pro198Ala)
c.529C>G (p.Pro177Ala)
n.739C>G
c.421C>G (p.Pro141Ala)
n.483C>G
 gnomAD v4
19g.17283227C>TCA306086074ANKLE1c.463C>T (p.Pro155Ser)
n.680C>T
c.430C>T (p.Pro144Ser)
c.625C>T (p.Pro209Ser)
c.*362C>T (n.*362C>T)
n.576C>T
c.465C>T
c.592C>T (p.Pro198Ser)
c.529C>T (p.Pro177Ser)
n.739C>T
c.421C>T (p.Pro141Ser)
n.483C>T
 dbSNP COSMIC COSMIC COSMIC
19g.17283228C>ACA404744564ANKLE1c.464C>A (p.Pro155Gln)
n.681C>A
c.431C>A (p.Pro144Gln)
c.626C>A (p.Pro209Gln)
c.*363C>A (n.*363C>A)
n.577C>A
c.466C>A
c.593C>A (p.Pro198Gln)
c.530C>A (p.Pro177Gln)
n.740C>A
c.422C>A (p.Pro141Gln)
n.484C>A
19g.17283228C>GCA404744566ANKLE1c.464C>G (p.Pro155Arg)
n.681C>G
c.431C>G (p.Pro144Arg)
c.626C>G (p.Pro209Arg)
c.*363C>G (n.*363C>G)
n.577C>G
c.466C>G
c.593C>G (p.Pro198Arg)
c.530C>G (p.Pro177Arg)
n.740C>G
c.422C>G (p.Pro141Arg)
n.484C>G
19g.17283228C>TCA404744565ANKLE1c.464C>T (p.Pro155Leu)
n.681C>T
c.431C>T (p.Pro144Leu)
c.626C>T (p.Pro209Leu)
c.*363C>T (n.*363C>T)
n.577C>T
c.466C>T
c.593C>T (p.Pro198Leu)
c.530C>T (p.Pro177Leu)
n.740C>T
c.422C>T (p.Pro141Leu)
n.484C>T
 gnomAD v4
19g.17283229A>CCA506095418ANKLE1c.465A>C (p.Pro155=)
n.682A>C
c.432A>C (p.Pro144=)
c.627A>C (p.Pro209=)
c.*364A>C (n.*364A>C)
n.578A>C
c.467A>C
c.594A>C (p.Pro198=)
c.531A>C (p.Pro177=)
n.741A>C
c.423A>C (p.Pro141=)
n.485A>C
19g.17283229A>GCA506095420ANKLE1c.465A>G (p.Pro155=)
n.682A>G
c.432A>G (p.Pro144=)
c.627A>G (p.Pro209=)
c.*364A>G (n.*364A>G)
n.578A>G
c.467A>G
c.594A>G (p.Pro198=)
c.531A>G (p.Pro177=)
n.741A>G
c.423A>G (p.Pro141=)
n.485A>G
 gnomAD v4
19g.17283229A>TCA506095421ANKLE1c.465A>T (p.Pro155=)
n.682A>T
c.432A>T (p.Pro144=)
c.627A>T (p.Pro209=)
c.*364A>T (n.*364A>T)
n.578A>T
c.467A>T
c.594A>T (p.Pro198=)
c.531A>T (p.Pro177=)
n.741A>T
c.423A>T (p.Pro141=)
n.485A>T
19g.17283230G>ACA404744567ANKLE1c.466G>A (p.Gly156Ser)
n.683G>A
c.433G>A (p.Gly145Ser)
c.628G>A (p.Gly210Ser)
c.*365G>A (n.*365G>A)
n.579G>A
c.468G>A
c.595G>A (p.Gly199Ser)
c.532G>A (p.Gly178Ser)
n.742G>A
c.424G>A (p.Gly142Ser)
n.486G>A
 dbSNP gnomAD v3 gnomAD v4
19g.17283230G>CCA404744568ANKLE1c.466G>C (p.Gly156Arg)
n.683G>C
c.433G>C (p.Gly145Arg)
c.628G>C (p.Gly210Arg)
c.*365G>C (n.*365G>C)
n.579G>C
c.468G>C
c.595G>C (p.Gly199Arg)
c.532G>C (p.Gly178Arg)
n.742G>C
c.424G>C (p.Gly142Arg)
n.486G>C
19g.17283230G=CA2325780426ANKLE1c.466G= (p.Gly156=)
n.683G=
c.433G= (p.Gly145=)
c.628G= (p.Gly210=)
c.*365G= (n.*365G=)
n.579G=
c.468G=
c.595G= (p.Gly199=)
c.532G= (p.Gly178=)
n.742G=
c.424G= (p.Gly142=)
n.486G=
19g.17283230G>TCA404744569ANKLE1c.466G>T (p.Gly156Cys)
n.683G>T
c.433G>T (p.Gly145Cys)
c.628G>T (p.Gly210Cys)
c.*365G>T (n.*365G>T)
n.579G>T
c.468G>T
c.595G>T (p.Gly199Cys)
c.532G>T (p.Gly178Cys)
n.742G>T
c.424G>T (p.Gly142Cys)
n.486G>T
19g.17283231G>ACA404744570ANKLE1c.467G>A (p.Gly156Asp)
n.684G>A
c.434G>A (p.Gly145Asp)
c.629G>A (p.Gly210Asp)
c.*366G>A (n.*366G>A)
n.580G>A
c.469G>A
c.596G>A (p.Gly199Asp)
c.533G>A (p.Gly178Asp)
n.743G>A
c.425G>A (p.Gly142Asp)
n.487G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.17283231G>CCA404744571ANKLE1c.467G>C (p.Gly156Ala)
n.684G>C
c.434G>C (p.Gly145Ala)
c.629G>C (p.Gly210Ala)
c.*366G>C (n.*366G>C)
n.580G>C
c.469G>C
c.596G>C (p.Gly199Ala)
c.533G>C (p.Gly178Ala)
n.743G>C
c.425G>C (p.Gly142Ala)
n.487G>C
19g.17283231G=CA2325780427ANKLE1c.467G= (p.Gly156=)
n.684G=
c.434G= (p.Gly145=)
c.629G= (p.Gly210=)
c.*366G= (n.*366G=)
n.580G=
c.469G=
c.596G= (p.Gly199=)
c.533G= (p.Gly178=)
n.743G=
c.425G= (p.Gly142=)
n.487G=
19g.17283231G>TCA404744572ANKLE1c.467G>T (p.Gly156Val)
n.684G>T
c.434G>T (p.Gly145Val)
c.629G>T (p.Gly210Val)
c.*366G>T (n.*366G>T)
n.580G>T
c.469G>T
c.596G>T (p.Gly199Val)
c.533G>T (p.Gly178Val)
n.743G>T
c.425G>T (p.Gly142Val)
n.487G>T
19g.17283232C>ACA506095429ANKLE1c.468C>A (p.Gly156=)
n.685C>A
c.435C>A (p.Gly145=)
c.630C>A (p.Gly210=)
c.*367C>A (n.*367C>A)
n.581C>A
c.470C>A
c.597C>A (p.Gly199=)
c.534C>A (p.Gly178=)
n.744C>A
c.426C>A (p.Gly142=)
n.488C>A
19g.17283232C>GCA506095431ANKLE1c.468C>G (p.Gly156=)
n.685C>G
c.435C>G (p.Gly145=)
c.630C>G (p.Gly210=)
c.*367C>G (n.*367C>G)
n.581C>G
c.470C>G
c.597C>G (p.Gly199=)
c.534C>G (p.Gly178=)
n.744C>G
c.426C>G (p.Gly142=)
n.488C>G
19g.17283232C>TCA506095434ANKLE1c.468C>T (p.Gly156=)
n.685C>T
c.435C>T (p.Gly145=)
c.630C>T (p.Gly210=)
c.*367C>T (n.*367C>T)
n.581C>T
c.470C>T
c.597C>T (p.Gly199=)
c.534C>T (p.Gly178=)
n.744C>T
c.426C>T (p.Gly142=)
n.488C>T
 gnomAD v4
19g.17283233C>ACA404744573ANKLE1c.469C>A (p.Leu157Ile)
n.686C>A
c.436C>A (p.Leu146Ile)
c.631C>A (p.Leu211Ile)
c.*368C>A (n.*368C>A)
n.582C>A
c.471C>A
c.598C>A (p.Leu200Ile)
c.535C>A (p.Leu179Ile)
n.745C>A
c.427C>A (p.Leu143Ile)
n.489C>A
 gnomAD v4
19g.17283233C>GCA404744574ANKLE1c.469C>G (p.Leu157Val)
n.686C>G
c.436C>G (p.Leu146Val)
c.631C>G (p.Leu211Val)
c.*368C>G (n.*368C>G)
n.582C>G
c.471C>G
c.598C>G (p.Leu200Val)
c.535C>G (p.Leu179Val)
n.745C>G
c.427C>G (p.Leu143Val)
n.489C>G
19g.17283233C>TCA404744575ANKLE1c.469C>T (p.Leu157Phe)
n.686C>T
c.436C>T (p.Leu146Phe)
c.631C>T (p.Leu211Phe)
c.*368C>T (n.*368C>T)
n.582C>T
c.471C>T
c.598C>T (p.Leu200Phe)
c.535C>T (p.Leu179Phe)
n.745C>T
c.427C>T (p.Leu143Phe)
n.489C>T
19g.17283234T>ACA404744576ANKLE1c.470T>A (p.Leu157His)
n.687T>A
c.437T>A (p.Leu146His)
c.632T>A (p.Leu211His)
c.*369T>A (n.*369T>A)
n.583T>A
c.472T>A
c.599T>A (p.Leu200His)
c.536T>A (p.Leu179His)
n.746T>A
c.428T>A (p.Leu143His)
n.490T>A
19g.17283234T>CCA404744577ANKLE1c.470T>C (p.Leu157Pro)
n.687T>C
c.437T>C (p.Leu146Pro)
c.632T>C (p.Leu211Pro)
c.*369T>C (n.*369T>C)
n.583T>C
c.472T>C
c.599T>C (p.Leu200Pro)
c.536T>C (p.Leu179Pro)
n.746T>C
c.428T>C (p.Leu143Pro)
n.490T>C
19g.17283234T>GCA404744578ANKLE1c.470T>G (p.Leu157Arg)
n.687T>G
c.437T>G (p.Leu146Arg)
c.632T>G (p.Leu211Arg)
c.*369T>G (n.*369T>G)
n.583T>G
c.472T>G
c.599T>G (p.Leu200Arg)
c.536T>G (p.Leu179Arg)
n.746T>G
c.428T>G (p.Leu143Arg)
n.490T>G
 gnomAD v4
19g.17283235C>ACA506095441ANKLE1c.471C>A (p.Leu157=)
n.688C>A
c.438C>A (p.Leu146=)
c.633C>A (p.Leu211=)
c.*370C>A (n.*370C>A)
n.584C>A
c.473C>A
c.600C>A (p.Leu200=)
c.537C>A (p.Leu179=)
n.747C>A
c.429C>A (p.Leu143=)
n.491C>A
19g.17283235C=CA2325780428ANKLE1c.471C= (p.Leu157=)
n.688C=
c.438C= (p.Leu146=)
c.633C= (p.Leu211=)
c.*370C= (n.*370C=)
n.584C=
c.473C=
c.600C= (p.Leu200=)
c.537C= (p.Leu179=)
n.747C=
c.429C= (p.Leu143=)
n.491C=
19g.17283235C>GCA506095442ANKLE1c.471C>G (p.Leu157=)
n.688C>G
c.438C>G (p.Leu146=)
c.633C>G (p.Leu211=)
c.*370C>G (n.*370C>G)
n.584C>G
c.473C>G
c.600C>G (p.Leu200=)
c.537C>G (p.Leu179=)
n.747C>G
c.429C>G (p.Leu143=)
n.491C>G
19g.17283235C>TCA306086080ANKLE1c.471C>T (p.Leu157=)
n.688C>T
c.438C>T (p.Leu146=)
c.633C>T (p.Leu211=)
c.*370C>T (n.*370C>T)
n.584C>T
c.473C>T
c.600C>T (p.Leu200=)
c.537C>T (p.Leu179=)
n.747C>T
c.429C>T (p.Leu143=)
n.491C>T
 dbSNP gnomAD v3 gnomAD v4
19g.17283236T>ACA404744579ANKLE1c.472T>A (p.Ser158Thr)
n.689T>A
c.439T>A (p.Ser147Thr)
c.634T>A (p.Ser212Thr)
c.*371T>A (n.*371T>A)
n.585T>A
c.474T>A
c.601T>A (p.Ser201Thr)
c.538T>A (p.Ser180Thr)
n.748T>A
c.430T>A (p.Ser144Thr)
n.492T>A
19g.17283236T>CCA404744581ANKLE1c.472T>C (p.Ser158Pro)
n.689T>C
c.439T>C (p.Ser147Pro)
c.634T>C (p.Ser212Pro)
c.*371T>C (n.*371T>C)
n.585T>C
c.474T>C
c.601T>C (p.Ser201Pro)
c.538T>C (p.Ser180Pro)
n.748T>C
c.430T>C (p.Ser144Pro)
n.492T>C
19g.17283236T>GCA404744580ANKLE1c.472T>G (p.Ser158Ala)
n.689T>G
c.439T>G (p.Ser147Ala)
c.634T>G (p.Ser212Ala)
c.*371T>G (n.*371T>G)
n.585T>G
c.474T>G
c.601T>G (p.Ser201Ala)
c.538T>G (p.Ser180Ala)
n.748T>G
c.430T>G (p.Ser144Ala)
n.492T>G
19g.17283237C>ACA404744582ANKLE1c.473C>A (p.Ser158Tyr)
n.690C>A
c.440C>A (p.Ser147Tyr)
c.635C>A (p.Ser212Tyr)
c.*372C>A (n.*372C>A)
n.586C>A
c.475C>A
c.602C>A (p.Ser201Tyr)
c.539C>A (p.Ser180Tyr)
n.749C>A
c.431C>A (p.Ser144Tyr)
n.493C>A
19g.17283237C>GCA404744583ANKLE1c.473C>G (p.Ser158Cys)
n.690C>G
c.440C>G (p.Ser147Cys)
c.635C>G (p.Ser212Cys)
c.*372C>G (n.*372C>G)
n.586C>G
c.475C>G
c.602C>G (p.Ser201Cys)
c.539C>G (p.Ser180Cys)
n.749C>G
c.431C>G (p.Ser144Cys)
n.493C>G
19g.17283237C>TCA404744584ANKLE1c.473C>T (p.Ser158Phe)
n.690C>T
c.440C>T (p.Ser147Phe)
c.635C>T (p.Ser212Phe)
c.*372C>T (n.*372C>T)
n.586C>T
c.475C>T
c.602C>T (p.Ser201Phe)
c.539C>T (p.Ser180Phe)
n.749C>T
c.431C>T (p.Ser144Phe)
n.493C>T
 gnomAD v4
19g.17283238T>ACA506095449ANKLE1c.474T>A (p.Ser158=)
n.691T>A
c.441T>A (p.Ser147=)
c.636T>A (p.Ser212=)
c.*373T>A (n.*373T>A)
n.587T>A
c.476T>A
c.603T>A (p.Ser201=)
c.540T>A (p.Ser180=)
n.750T>A
c.432T>A (p.Ser144=)
n.494T>A
 gnomAD v4
19g.17283238T>CCA506095450ANKLE1c.474T>C (p.Ser158=)
n.691T>C
c.441T>C (p.Ser147=)
c.636T>C (p.Ser212=)
c.*373T>C (n.*373T>C)
n.587T>C
c.476T>C
c.603T>C (p.Ser201=)
c.540T>C (p.Ser180=)
n.750T>C
c.432T>C (p.Ser144=)
n.494T>C
19g.17283238T>GCA506095451ANKLE1c.474T>G (p.Ser158=)
n.691T>G
c.441T>G (p.Ser147=)
c.636T>G (p.Ser212=)
c.*373T>G (n.*373T>G)
n.587T>G
c.476T>G
c.603T>G (p.Ser201=)
c.540T>G (p.Ser180=)
n.750T>G
c.432T>G (p.Ser144=)
n.494T>G
19g.17283239G>ACA404744585ANKLE1c.475G>A (p.Gly159Arg)
n.692G>A
c.442G>A (p.Gly148Arg)
c.637G>A (p.Gly213Arg)
c.*374G>A (n.*374G>A)
n.588G>A
c.477G>A
c.604G>A (p.Gly202Arg)
c.541G>A (p.Gly181Arg)
n.751G>A
c.433G>A (p.Gly145Arg)
n.495G>A
19g.17283239G>CCA404744586ANKLE1c.475G>C (p.Gly159Arg)
n.692G>C
c.442G>C (p.Gly148Arg)
c.637G>C (p.Gly213Arg)
c.*374G>C (n.*374G>C)
n.588G>C
c.477G>C
c.604G>C (p.Gly202Arg)
c.541G>C (p.Gly181Arg)
n.751G>C
c.433G>C (p.Gly145Arg)
n.495G>C
19g.17283239G>TCA404744587ANKLE1c.475G>T (p.Gly159Ter)
n.692G>T
c.442G>T (p.Gly148Ter)
c.637G>T (p.Gly213Ter)
c.*374G>T (n.*374G>T)
n.588G>T
c.477G>T
c.604G>T (p.Gly202Ter)
c.541G>T (p.Gly181Ter)
n.751G>T
c.433G>T (p.Gly145Ter)
n.495G>T
19g.17283240G>ACA404744588ANKLE1c.476G>A (p.Gly159Glu)
n.693G>A
c.443G>A (p.Gly148Glu)
c.638G>A (p.Gly213Glu)
c.*375G>A (n.*375G>A)
n.589G>A
c.478G>A
c.605G>A (p.Gly202Glu)
c.542G>A (p.Gly181Glu)
n.752G>A
c.434G>A (p.Gly145Glu)
n.496G>A
19g.17283240G>CCA404744589ANKLE1c.476G>C (p.Gly159Ala)
n.693G>C
c.443G>C (p.Gly148Ala)
c.638G>C (p.Gly213Ala)
c.*375G>C (n.*375G>C)
n.589G>C
c.478G>C
c.605G>C (p.Gly202Ala)
c.542G>C (p.Gly181Ala)
n.752G>C
c.434G>C (p.Gly145Ala)
n.496G>C
19g.17283240G>TCA404744590ANKLE1c.476G>T (p.Gly159Val)
n.693G>T
c.443G>T (p.Gly148Val)
c.638G>T (p.Gly213Val)
c.*375G>T (n.*375G>T)
n.589G>T
c.478G>T
c.605G>T (p.Gly202Val)
c.542G>T (p.Gly181Val)
n.752G>T
c.434G>T (p.Gly145Val)
n.496G>T
19g.17283241A=CA2325780429ANKLE1c.477A= (p.Gly159=)
n.694A=
c.444A= (p.Gly148=)
c.639A= (p.Gly213=)
c.*376A= (n.*376A=)
n.590A=
c.479A=
c.606A= (p.Gly202=)
c.543A= (p.Gly181=)
n.753A=
c.435A= (p.Gly145=)
n.497A=
19g.17283241A>CCA506095457ANKLE1c.477A>C (p.Gly159=)
n.694A>C
c.444A>C (p.Gly148=)
c.639A>C (p.Gly213=)
c.*376A>C (n.*376A>C)
n.590A>C
c.479A>C
c.606A>C (p.Gly202=)
c.543A>C (p.Gly181=)
n.753A>C
c.435A>C (p.Gly145=)
n.497A>C
19g.17283241A>GCA506095460ANKLE1c.477A>G (p.Gly159=)
n.694A>G
c.444A>G (p.Gly148=)
c.639A>G (p.Gly213=)
c.*376A>G (n.*376A>G)
n.590A>G
c.479A>G
c.606A>G (p.Gly202=)
c.543A>G (p.Gly181=)
n.753A>G
c.435A>G (p.Gly145=)
n.497A>G
 dbSNP gnomAD v3 gnomAD v4
19g.17283241A>TCA506095458ANKLE1c.477A>T (p.Gly159=)
n.694A>T
c.444A>T (p.Gly148=)
c.639A>T (p.Gly213=)
c.*376A>T (n.*376A>T)
n.590A>T
c.479A>T
c.606A>T (p.Gly202=)
c.543A>T (p.Gly181=)
n.753A>T
c.435A>T (p.Gly145=)
n.497A>T
19g.17283242C>ACA404744591ANKLE1c.478C>A (p.Pro160Thr)
n.695C>A
c.445C>A (p.Pro149Thr)
c.640C>A (p.Pro214Thr)
c.*377C>A (n.*377C>A)
n.591C>A
c.480C>A
c.607C>A (p.Pro203Thr)
c.544C>A (p.Pro182Thr)
n.754C>A
c.436C>A (p.Pro146Thr)
n.498C>A
19g.17283242C=CA2325780430ANKLE1c.478C= (p.Pro160=)
n.695C=
c.445C= (p.Pro149=)
c.640C= (p.Pro214=)
c.*377C= (n.*377C=)
n.591C=
c.480C=
c.607C= (p.Pro203=)
c.544C= (p.Pro182=)
n.754C=
c.436C= (p.Pro146=)
n.498C=
19g.17283242C>GCA404744592ANKLE1c.478C>G (p.Pro160Ala)
n.695C>G
c.445C>G (p.Pro149Ala)
c.640C>G (p.Pro214Ala)
c.*377C>G (n.*377C>G)
n.591C>G
c.480C>G
c.607C>G (p.Pro203Ala)
c.544C>G (p.Pro182Ala)
n.754C>G
c.436C>G (p.Pro146Ala)
n.498C>G
19g.17283242C>TCA9291117ANKLE1c.478C>T (p.Pro160Ser)
n.695C>T
c.445C>T (p.Pro149Ser)
c.640C>T (p.Pro214Ser)
c.*377C>T (n.*377C>T)
n.591C>T
c.480C>T
c.607C>T (p.Pro203Ser)
c.544C>T (p.Pro182Ser)
n.754C>T
c.436C>T (p.Pro146Ser)
n.498C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.17283243C>ACA404744595ANKLE1c.479C>A (p.Pro160His)
n.696C>A
c.446C>A (p.Pro149His)
c.641C>A (p.Pro214His)
c.*378C>A (n.*378C>A)
n.592C>A
c.481C>A
c.608C>A (p.Pro203His)
c.545C>A (p.Pro182His)
n.755C>A
c.437C>A (p.Pro146His)
n.499C>A
19g.17283243C>GCA404744594ANKLE1c.479C>G (p.Pro160Arg)
n.696C>G
c.446C>G (p.Pro149Arg)
c.641C>G (p.Pro214Arg)
c.*378C>G (n.*378C>G)
n.592C>G
c.481C>G
c.608C>G (p.Pro203Arg)
c.545C>G (p.Pro182Arg)
n.755C>G
c.437C>G (p.Pro146Arg)
n.499C>G
 gnomAD v4
19g.17283243C>TCA404744593ANKLE1c.479C>T (p.Pro160Leu)
n.696C>T
c.446C>T (p.Pro149Leu)
c.641C>T (p.Pro214Leu)
c.*378C>T (n.*378C>T)
n.592C>T
c.481C>T
c.608C>T (p.Pro203Leu)
c.545C>T (p.Pro182Leu)
n.755C>T
c.437C>T (p.Pro146Leu)
n.499C>T
19g.17283244T>ACA506095469ANKLE1c.480T>A (p.Pro160=)
n.697T>A
c.447T>A (p.Pro149=)
c.642T>A (p.Pro214=)
c.*379T>A (n.*379T>A)
n.593T>A
c.482T>A
c.609T>A (p.Pro203=)
c.546T>A (p.Pro182=)
n.756T>A
c.438T>A (p.Pro146=)
n.500T>A
19g.17283244T>CCA506095470ANKLE1c.480T>C (p.Pro160=)
n.697T>C
c.447T>C (p.Pro149=)
c.642T>C (p.Pro214=)
c.*379T>C (n.*379T>C)
n.593T>C
c.482T>C
c.609T>C (p.Pro203=)
c.546T>C (p.Pro182=)
n.756T>C
c.438T>C (p.Pro146=)
n.500T>C
19g.17283244T>GCA506095472ANKLE1c.480T>G (p.Pro160=)
n.697T>G
c.447T>G (p.Pro149=)
c.642T>G (p.Pro214=)
c.*379T>G (n.*379T>G)
n.593T>G
c.482T>G
c.609T>G (p.Pro203=)
c.546T>G (p.Pro182=)
n.756T>G
c.438T>G (p.Pro146=)
n.500T>G
19g.17283245A=CA2325780431ANKLE1c.481A= (p.Thr161=)
n.698A=
c.448A= (p.Thr150=)
c.643A= (p.Thr215=)
c.*380A= (n.*380A=)
n.594A=
c.483A=
c.610A= (p.Thr204=)
c.547A= (p.Thr183=)
n.757A=
c.439A= (p.Thr147=)
n.501A=
19g.17283245A>CCA404744596ANKLE1c.481A>C (p.Thr161Pro)
n.698A>C
c.448A>C (p.Thr150Pro)
c.643A>C (p.Thr215Pro)
c.*380A>C (n.*380A>C)
n.594A>C
c.483A>C
c.610A>C (p.Thr204Pro)
c.547A>C (p.Thr183Pro)
n.757A>C
c.439A>C (p.Thr147Pro)
n.501A>C
 dbSNP
19g.17283245A>GCA404744597ANKLE1c.481A>G (p.Thr161Ala)
n.698A>G
c.448A>G (p.Thr150Ala)
c.643A>G (p.Thr215Ala)
c.*380A>G (n.*380A>G)
n.594A>G
c.483A>G
c.610A>G (p.Thr204Ala)
c.547A>G (p.Thr183Ala)
n.757A>G
c.439A>G (p.Thr147Ala)
n.501A>G
 dbSNP gnomAD v2 gnomAD v4
19g.17283245A>TCA404744598ANKLE1c.481A>T (p.Thr161Ser)
n.698A>T
c.448A>T (p.Thr150Ser)
c.643A>T (p.Thr215Ser)
c.*380A>T (n.*380A>T)
n.594A>T
c.483A>T
c.610A>T (p.Thr204Ser)
c.547A>T (p.Thr183Ser)
n.757A>T
c.439A>T (p.Thr147Ser)
n.501A>T
19g.17283246C>ACA404744599ANKLE1c.482C>A (p.Thr161Asn)
n.699C>A
c.449C>A (p.Thr150Asn)
c.644C>A (p.Thr215Asn)
c.*381C>A (n.*381C>A)
n.595C>A
c.484C>A
c.611C>A (p.Thr204Asn)
c.548C>A (p.Thr183Asn)
n.758C>A
c.440C>A (p.Thr147Asn)
n.502C>A
19g.17283246C=CA2325780432ANKLE1c.482C= (p.Thr161=)
n.699C=
c.449C= (p.Thr150=)
c.644C= (p.Thr215=)
c.*381C= (n.*381C=)
n.595C=
c.484C=
c.611C= (p.Thr204=)
c.548C= (p.Thr183=)
n.758C=
c.440C= (p.Thr147=)
n.502C=
19g.17283246C>GCA404744600ANKLE1c.482C>G (p.Thr161Ser)
n.699C>G
c.449C>G (p.Thr150Ser)
c.644C>G (p.Thr215Ser)
c.*381C>G (n.*381C>G)
n.595C>G
c.484C>G
c.611C>G (p.Thr204Ser)
c.548C>G (p.Thr183Ser)
n.758C>G
c.440C>G (p.Thr147Ser)
n.502C>G
 dbSNP
19g.17283246C>TCA404744601ANKLE1c.482C>T (p.Thr161Ile)
n.699C>T
c.449C>T (p.Thr150Ile)
c.644C>T (p.Thr215Ile)
c.*381C>T (n.*381C>T)
n.595C>T
c.484C>T
c.611C>T (p.Thr204Ile)
c.548C>T (p.Thr183Ile)
n.758C>T
c.440C>T (p.Thr147Ile)
n.502C>T
19g.17283247C>ACA506095479ANKLE1c.483C>A (p.Thr161=)
n.700C>A
c.450C>A (p.Thr150=)
c.645C>A (p.Thr215=)
c.*382C>A (n.*382C>A)
n.596C>A
c.485C>A
c.612C>A (p.Thr204=)
c.549C>A (p.Thr183=)
n.759C>A
c.441C>A (p.Thr147=)
n.503C>A
19g.17283247C=CA2325780433ANKLE1c.483C= (p.Thr161=)
n.700C=
c.450C= (p.Thr150=)
c.645C= (p.Thr215=)
c.*382C= (n.*382C=)
n.596C=
c.485C=
c.612C= (p.Thr204=)
c.549C= (p.Thr183=)
n.759C=
c.441C= (p.Thr147=)
n.503C=
19g.17283247C>GCA506095481ANKLE1c.483C>G (p.Thr161=)
n.700C>G
c.450C>G (p.Thr150=)
c.645C>G (p.Thr215=)
c.*382C>G (n.*382C>G)
n.596C>G
c.485C>G
c.612C>G (p.Thr204=)
c.549C>G (p.Thr183=)
n.759C>G
c.441C>G (p.Thr147=)
n.503C>G
19g.17283247C>TCA9291118ANKLE1c.483C>T (p.Thr161=)
n.700C>T
c.450C>T (p.Thr150=)
c.645C>T (p.Thr215=)
c.*382C>T (n.*382C>T)
n.596C>T
c.485C>T
c.612C>T (p.Thr204=)
c.549C>T (p.Thr183=)
n.759C>T
c.441C>T (p.Thr147=)
n.503C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.17283248G>ACA9291120ANKLE1c.484G>A (p.Asp162Asn)
n.701G>A
c.451G>A (p.Asp151Asn)
c.646G>A (p.Asp216Asn)
c.*383G>A (n.*383G>A)
n.597G>A
c.486G>A
c.613G>A (p.Asp205Asn)
c.550G>A (p.Asp184Asn)
n.760G>A
c.442G>A (p.Asp148Asn)
n.504G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.17283248G>CCA9291119ANKLE1c.484G>C (p.Asp162His)
n.701G>C
c.451G>C (p.Asp151His)
c.646G>C (p.Asp216His)
c.*383G>C (n.*383G>C)
n.597G>C
c.486G>C
c.613G>C (p.Asp205His)
c.550G>C (p.Asp184His)
n.760G>C
c.442G>C (p.Asp148His)
n.504G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.17283248G=CA2325780434ANKLE1c.484G= (p.Asp162=)
n.701G=
c.451G= (p.Asp151=)
c.646G= (p.Asp216=)
c.*383G= (n.*383G=)
n.597G=
c.486G=
c.613G= (p.Asp205=)
c.550G= (p.Asp184=)
n.760G=
c.442G= (p.Asp148=)
n.504G=
19g.17283248G>TCA404744602ANKLE1c.484G>T (p.Asp162Tyr)
n.701G>T
c.451G>T (p.Asp151Tyr)
c.646G>T (p.Asp216Tyr)
c.*383G>T (n.*383G>T)
n.597G>T
c.486G>T
c.613G>T (p.Asp205Tyr)
c.550G>T (p.Asp184Tyr)
n.760G>T
c.442G>T (p.Asp148Tyr)
n.504G>T
19g.17283249A>CCA404744603ANKLE1c.485A>C (p.Asp162Ala)
n.702A>C
c.452A>C (p.Asp151Ala)
c.647A>C (p.Asp216Ala)
c.*384A>C (n.*384A>C)
n.598A>C
c.487A>C
c.614A>C (p.Asp205Ala)
c.551A>C (p.Asp184Ala)
n.761A>C
c.443A>C (p.Asp148Ala)
n.505A>C
19g.17283249A>GCA404744604ANKLE1c.485A>G (p.Asp162Gly)
n.702A>G
c.452A>G (p.Asp151Gly)
c.647A>G (p.Asp216Gly)
c.*384A>G (n.*384A>G)
n.598A>G
c.487A>G
c.614A>G (p.Asp205Gly)
c.551A>G (p.Asp184Gly)
n.761A>G
c.443A>G (p.Asp148Gly)
n.505A>G
19g.17283249A>TCA404744605ANKLE1c.485A>T (p.Asp162Val)
n.702A>T
c.452A>T (p.Asp151Val)
c.647A>T (p.Asp216Val)
c.*384A>T (n.*384A>T)
n.598A>T
c.487A>T
c.614A>T (p.Asp205Val)
c.551A>T (p.Asp184Val)
n.761A>T
c.443A>T (p.Asp148Val)
n.505A>T
19g.17283250T>ACA404744606ANKLE1c.486T>A (p.Asp162Glu)
n.703T>A
c.453T>A (p.Asp151Glu)
c.648T>A (p.Asp216Glu)
c.*385T>A (n.*385T>A)
n.599T>A
c.488T>A
c.615T>A (p.Asp205Glu)
c.552T>A (p.Asp184Glu)
n.762T>A
c.444T>A (p.Asp148Glu)
n.506T>A
 gnomAD v4
19g.17283250T>CCA506095487ANKLE1c.486T>C (p.Asp162=)
n.703T>C
c.453T>C (p.Asp151=)
c.648T>C (p.Asp216=)
c.*385T>C (n.*385T>C)
n.599T>C
c.488T>C
c.615T>C (p.Asp205=)
c.552T>C (p.Asp184=)
n.762T>C
c.444T>C (p.Asp148=)
n.506T>C
 gnomAD v4
19g.17283250T>GCA404744607ANKLE1c.486T>G (p.Asp162Glu)
n.703T>G
c.453T>G (p.Asp151Glu)
c.648T>G (p.Asp216Glu)
c.*385T>G (n.*385T>G)
n.599T>G
c.488T>G
c.615T>G (p.Asp205Glu)
c.552T>G (p.Asp184Glu)
n.762T>G
c.444T>G (p.Asp148Glu)
n.506T>G
 gnomAD v4
19g.17283251G>ACA404744608ANKLE1c.487G>A (p.Glu163Lys)
n.704G>A
c.454G>A (p.Glu152Lys)
c.649G>A (p.Glu217Lys)
c.*386G>A (n.*386G>A)
n.600G>A
c.489G>A
c.616G>A (p.Glu206Lys)
c.553G>A (p.Glu185Lys)
n.763G>A
c.445G>A (p.Glu149Lys)
n.507G>A
 dbSNP gnomAD v2 gnomAD v4
19g.17283251G>CCA404744610ANKLE1c.487G>C (p.Glu163Gln)
n.704G>C
c.454G>C (p.Glu152Gln)
c.649G>C (p.Glu217Gln)
c.*386G>C (n.*386G>C)
n.600G>C
c.489G>C
c.616G>C (p.Glu206Gln)
c.553G>C (p.Glu185Gln)
n.763G>C
c.445G>C (p.Glu149Gln)
n.507G>C
19g.17283251G=CA2325780435ANKLE1c.487G= (p.Glu163=)
n.704G=
c.454G= (p.Glu152=)
c.649G= (p.Glu217=)
c.*386G= (n.*386G=)
n.600G=
c.489G=
c.616G= (p.Glu206=)
c.553G= (p.Glu185=)
n.763G=
c.445G= (p.Glu149=)
n.507G=
19g.17283251G>TCA404744609ANKLE1c.487G>T (p.Glu163Ter)
n.704G>T
c.454G>T (p.Glu152Ter)
c.649G>T (p.Glu217Ter)
c.*386G>T (n.*386G>T)
n.600G>T
c.489G>T
c.616G>T (p.Glu206Ter)
c.553G>T (p.Glu185Ter)
n.763G>T
c.445G>T (p.Glu149Ter)
n.507G>T
19g.17283252A>CCA404744611ANKLE1c.488A>C (p.Glu163Ala)
n.705A>C
c.455A>C (p.Glu152Ala)
c.650A>C (p.Glu217Ala)
c.*387A>C (n.*387A>C)
n.601A>C
c.490A>C
c.617A>C (p.Glu206Ala)
c.554A>C (p.Glu185Ala)
n.764A>C
c.446A>C (p.Glu149Ala)
n.508A>C
19g.17283252A>GCA404744613ANKLE1c.488A>G (p.Glu163Gly)
n.705A>G
c.455A>G (p.Glu152Gly)
c.650A>G (p.Glu217Gly)
c.*387A>G (n.*387A>G)
n.601A>G
c.490A>G
c.617A>G (p.Glu206Gly)
c.554A>G (p.Glu185Gly)
n.764A>G
c.446A>G (p.Glu149Gly)
n.508A>G
19g.17283252A>TCA404744612ANKLE1c.488A>T (p.Glu163Val)
n.705A>T
c.455A>T (p.Glu152Val)
c.650A>T (p.Glu217Val)
c.*387A>T (n.*387A>T)
n.601A>T
c.490A>T
c.617A>T (p.Glu206Val)
c.554A>T (p.Glu185Val)
n.764A>T
c.446A>T (p.Glu149Val)
n.508A>T
19g.17283253G>ACA506095492ANKLE1c.489G>A (p.Glu163=)
n.706G>A
c.456G>A (p.Glu152=)
c.651G>A (p.Glu217=)
c.*388G>A (n.*388G>A)
n.602G>A
c.491G>A
c.618G>A (p.Glu206=)
c.555G>A (p.Glu185=)
n.765G>A
c.447G>A (p.Glu149=)
n.509G>A
 gnomAD v4
19g.17283253G>CCA404744614ANKLE1c.489G>C (p.Glu163Asp)
n.706G>C
c.456G>C (p.Glu152Asp)
c.651G>C (p.Glu217Asp)
c.*388G>C (n.*388G>C)
n.602G>C
c.491G>C
c.618G>C (p.Glu206Asp)
c.555G>C (p.Glu185Asp)
n.765G>C
c.447G>C (p.Glu149Asp)
n.509G>C
19g.17283253G>TCA404744615ANKLE1c.489G>T (p.Glu163Asp)
n.706G>T
c.456G>T (p.Glu152Asp)
c.651G>T (p.Glu217Asp)
c.*388G>T (n.*388G>T)
n.602G>T
c.491G>T
c.618G>T (p.Glu206Asp)
c.555G>T (p.Glu185Asp)
n.765G>T
c.447G>T (p.Glu149Asp)
n.509G>T
19g.17283254A>CCA404744616ANKLE1c.490A>C (p.Thr164Pro)
n.707A>C
c.457A>C (p.Thr153Pro)
c.652A>C (p.Thr218Pro)
c.*389A>C (n.*389A>C)
n.603A>C
c.492A>C
c.619A>C (p.Thr207Pro)
c.556A>C (p.Thr186Pro)
n.766A>C
c.448A>C (p.Thr150Pro)
n.510A>C
19g.17283254A>GCA404744617ANKLE1c.490A>G (p.Thr164Ala)
n.707A>G
c.457A>G (p.Thr153Ala)
c.652A>G (p.Thr218Ala)
c.*389A>G (n.*389A>G)
n.603A>G
c.492A>G
c.619A>G (p.Thr207Ala)
c.556A>G (p.Thr186Ala)
n.766A>G
c.448A>G (p.Thr150Ala)
n.510A>G
19g.17283254A>TCA404744618ANKLE1c.490A>T (p.Thr164Ser)
n.707A>T
c.457A>T (p.Thr153Ser)
c.652A>T (p.Thr218Ser)
c.*389A>T (n.*389A>T)
n.603A>T
c.492A>T
c.619A>T (p.Thr207Ser)
c.556A>T (p.Thr186Ser)
n.766A>T
c.448A>T (p.Thr150Ser)
n.510A>T
19g.17283255C>ACA404744619ANKLE1c.491C>A (p.Thr164Lys)
n.708C>A
c.458C>A (p.Thr153Lys)
c.653C>A (p.Thr218Lys)
c.*390C>A (n.*390C>A)
n.604C>A
c.493C>A
c.620C>A (p.Thr207Lys)
c.557C>A (p.Thr186Lys)
n.767C>A
c.449C>A (p.Thr150Lys)
n.511C>A
19g.17283255C=CA2325780436ANKLE1c.491C= (p.Thr164=)
n.708C=
c.458C= (p.Thr153=)
c.653C= (p.Thr218=)
c.*390C= (n.*390C=)
n.604C=
c.493C=
c.620C= (p.Thr207=)
c.557C= (p.Thr186=)
n.767C=
c.449C= (p.Thr150=)
n.511C=
19g.17283255C>GCA404744620ANKLE1c.491C>G (p.Thr164Arg)
n.708C>G
c.458C>G (p.Thr153Arg)
c.653C>G (p.Thr218Arg)
c.*390C>G (n.*390C>G)
n.604C>G
c.493C>G
c.620C>G (p.Thr207Arg)
c.557C>G (p.Thr186Arg)
n.767C>G
c.449C>G (p.Thr150Arg)
n.511C>G
19g.17283255C>TCA9291121ANKLE1c.491C>T (p.Thr164Met)
n.708C>T
c.458C>T (p.Thr153Met)
c.653C>T (p.Thr218Met)
c.*390C>T (n.*390C>T)
n.604C>T
c.493C>T
c.620C>T (p.Thr207Met)
c.557C>T (p.Thr186Met)
n.767C>T
c.449C>T (p.Thr150Met)
n.511C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.17283256G>ACA9291122ANKLE1c.492G>A (p.Thr164=)
n.709G>A
c.459G>A (p.Thr153=)
c.654G>A (p.Thr218=)
c.*391G>A (n.*391G>A)
n.605G>A
c.494G>A
c.621G>A (p.Thr207=)
c.558G>A (p.Thr186=)
n.768G>A
c.450G>A (p.Thr150=)
n.512G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.17283256G>CCA506095500ANKLE1c.492G>C (p.Thr164=)
n.709G>C
c.459G>C (p.Thr153=)
c.654G>C (p.Thr218=)
c.*391G>C (n.*391G>C)
n.605G>C
c.494G>C
c.621G>C (p.Thr207=)
c.558G>C (p.Thr186=)
n.768G>C
c.450G>C (p.Thr150=)
n.512G>C
19g.17283256G=CA2325780437ANKLE1c.492G= (p.Thr164=)
n.709G=
c.459G= (p.Thr153=)
c.654G= (p.Thr218=)
c.*391G= (n.*391G=)
n.605G=
c.494G=
c.621G= (p.Thr207=)
c.558G= (p.Thr186=)
n.768G=
c.450G= (p.Thr150=)
n.512G=
19g.17283256G>TCA506095501ANKLE1c.492G>T (p.Thr164=)
n.709G>T
c.459G>T (p.Thr153=)
c.654G>T (p.Thr218=)
c.*391G>T (n.*391G>T)
n.605G>T
c.494G>T
c.621G>T (p.Thr207=)
c.558G>T (p.Thr186=)
n.768G>T
c.450G>T (p.Thr150=)
n.512G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.17283257C>ACA404744621ANKLE1c.493C>A (p.Leu165Met)
n.710C>A
c.460C>A (p.Leu154Met)
c.655C>A (p.Leu219Met)
c.*392C>A (n.*392C>A)
n.606C>A
c.495C>A
c.622C>A (p.Leu208Met)
c.559C>A (p.Leu187Met)
n.769C>A
c.451C>A (p.Leu151Met)
n.513C>A
19g.17283257C>GCA404744622ANKLE1c.493C>G (p.Leu165Val)
n.710C>G
c.460C>G (p.Leu154Val)
c.655C>G (p.Leu219Val)
c.*392C>G (n.*392C>G)
n.606C>G
c.495C>G
c.622C>G (p.Leu208Val)
c.559C>G (p.Leu187Val)
n.769C>G
c.451C>G (p.Leu151Val)
n.513C>G
19g.17283257C>TCA506095503ANKLE1c.493C>T (p.Leu165=)
n.710C>T
c.460C>T (p.Leu154=)
c.655C>T (p.Leu219=)
c.*392C>T (n.*392C>T)
n.606C>T
c.495C>T
c.622C>T (p.Leu208=)
c.559C>T (p.Leu187=)
n.769C>T
c.451C>T (p.Leu151=)
n.513C>T
 gnomAD v4
19g.17283258T>ACA404744625ANKLE1c.494T>A (p.Leu165Gln)
n.711T>A
c.461T>A (p.Leu154Gln)
c.656T>A (p.Leu219Gln)
c.*393T>A (n.*393T>A)
n.607T>A
c.496T>A
c.623T>A (p.Leu208Gln)
c.560T>A (p.Leu187Gln)
n.770T>A
c.452T>A (p.Leu151Gln)
n.514T>A
 dbSNP
19g.17283258T>CCA404744624ANKLE1c.494T>C (p.Leu165Pro)
n.711T>C
c.461T>C (p.Leu154Pro)
c.656T>C (p.Leu219Pro)
c.*393T>C (n.*393T>C)
n.607T>C
c.496T>C
c.623T>C (p.Leu208Pro)
c.560T>C (p.Leu187Pro)
n.770T>C
c.452T>C (p.Leu151Pro)
n.514T>C
19g.17283258T>GCA404744623ANKLE1c.494T>G (p.Leu165Arg)
n.711T>G
c.461T>G (p.Leu154Arg)
c.656T>G (p.Leu219Arg)
c.*393T>G (n.*393T>G)
n.607T>G
c.496T>G
c.623T>G (p.Leu208Arg)
c.560T>G (p.Leu187Arg)
n.770T>G
c.452T>G (p.Leu151Arg)
n.514T>G
19g.17283258T=CA2325780438ANKLE1c.494T= (p.Leu165=)
n.711T=
c.461T= (p.Leu154=)
c.656T= (p.Leu219=)
c.*393T= (n.*393T=)
n.607T=
c.496T=
c.623T= (p.Leu208=)
c.560T= (p.Leu187=)
n.770T=
c.452T= (p.Leu151=)
n.514T=
19g.17283259G>ACA506095506ANKLE1c.495G>A (p.Leu165=)
n.712G>A
c.462G>A (p.Leu154=)
c.657G>A (p.Leu219=)
c.*394G>A (n.*394G>A)
n.608G>A
c.497G>A
c.624G>A (p.Leu208=)
c.561G>A (p.Leu187=)
n.771G>A
c.453G>A (p.Leu151=)
n.515G>A
 gnomAD v4
19g.17283259G>CCA506095508ANKLE1c.495G>C (p.Leu165=)
n.712G>C
c.462G>C (p.Leu154=)
c.657G>C (p.Leu219=)
c.*394G>C (n.*394G>C)
n.608G>C
c.497G>C
c.624G>C (p.Leu208=)
c.561G>C (p.Leu187=)
n.771G>C
c.453G>C (p.Leu151=)
n.515G>C
19g.17283259G=CA2325780439ANKLE1c.495G= (p.Leu165=)
n.712G=
c.462G= (p.Leu154=)
c.657G= (p.Leu219=)
c.*394G= (n.*394G=)
n.608G=
c.497G=
c.624G= (p.Leu208=)
c.561G= (p.Leu187=)
n.771G=
c.453G= (p.Leu151=)
n.515G=
19g.17283259G>TCA506095509ANKLE1c.495G>T (p.Leu165=)
n.712G>T
c.462G>T (p.Leu154=)
c.657G>T (p.Leu219=)
c.*394G>T (n.*394G>T)
n.608G>T
c.497G>T
c.624G>T (p.Leu208=)
c.561G>T (p.Leu187=)
n.771G>T
c.453G>T (p.Leu151=)
n.515G>T
 dbSNP gnomAD v2
19g.17283260G>ACA404744626ANKLE1c.496G>A (p.Asp166Asn)
n.713G>A
c.463G>A (p.Asp155Asn)
c.658G>A (p.Asp220Asn)
c.*395G>A (n.*395G>A)
n.609G>A
c.498G>A
c.625G>A (p.Asp209Asn)
c.562G>A (p.Asp188Asn)
n.772G>A
c.454G>A (p.Asp152Asn)
n.516G>A
19g.17283260G>CCA404744627ANKLE1c.496G>C (p.Asp166His)
n.713G>C
c.463G>C (p.Asp155His)
c.658G>C (p.Asp220His)
c.*395G>C (n.*395G>C)
n.609G>C
c.498G>C
c.625G>C (p.Asp209His)
c.562G>C (p.Asp188His)
n.772G>C
c.454G>C (p.Asp152His)
n.516G>C
19g.17283260G=CA2325780440ANKLE1c.496G= (p.Asp166=)
n.713G=
c.463G= (p.Asp155=)
c.658G= (p.Asp220=)
c.*395G= (n.*395G=)
n.609G=
c.498G=
c.625G= (p.Asp209=)
c.562G= (p.Asp188=)
n.772G=
c.454G= (p.Asp152=)
n.516G=
19g.17283260G>TCA404744628ANKLE1c.496G>T (p.Asp166Tyr)
n.713G>T
c.463G>T (p.Asp155Tyr)
c.658G>T (p.Asp220Tyr)
c.*395G>T (n.*395G>T)
n.609G>T
c.498G>T
c.625G>T (p.Asp209Tyr)
c.562G>T (p.Asp188Tyr)
n.772G>T
c.454G>T (p.Asp152Tyr)
n.516G>T
 dbSNP gnomAD v3 gnomAD v4
19g.17283261A>CCA404744629ANKLE1c.497A>C (p.Asp166Ala)
n.714A>C
c.464A>C (p.Asp155Ala)
c.659A>C (p.Asp220Ala)
c.*396A>C (n.*396A>C)
n.610A>C
c.499A>C
c.626A>C (p.Asp209Ala)
c.563A>C (p.Asp188Ala)
n.773A>C
c.455A>C (p.Asp152Ala)
n.517A>C
19g.17283261A>GCA404744630ANKLE1c.497A>G (p.Asp166Gly)
n.714A>G
c.464A>G (p.Asp155Gly)
c.659A>G (p.Asp220Gly)
c.*396A>G (n.*396A>G)
n.610A>G
c.499A>G
c.626A>G (p.Asp209Gly)
c.563A>G (p.Asp188Gly)
n.773A>G
c.455A>G (p.Asp152Gly)
n.517A>G
19g.17283261A>TCA404744631ANKLE1c.497A>T (p.Asp166Val)
n.714A>T
c.464A>T (p.Asp155Val)
c.659A>T (p.Asp220Val)
c.*396A>T (n.*396A>T)
n.610A>T
c.499A>T
c.626A>T (p.Asp209Val)
c.563A>T (p.Asp188Val)
n.773A>T
c.455A>T (p.Asp152Val)
n.517A>T
19g.17283262C>ACA404744632ANKLE1c.498C>A (p.Asp166Glu)
n.715C>A
c.465C>A (p.Asp155Glu)
c.660C>A (p.Asp220Glu)
c.*397C>A (n.*397C>A)
n.611C>A
c.500C>A
c.627C>A (p.Asp209Glu)
c.564C>A (p.Asp188Glu)
n.774C>A
c.456C>A (p.Asp152Glu)
n.518C>A
19g.17283262C>GCA404744633ANKLE1c.498C>G (p.Asp166Glu)
n.715C>G
c.465C>G (p.Asp155Glu)
c.660C>G (p.Asp220Glu)
c.*397C>G (n.*397C>G)
n.611C>G
c.500C>G
c.627C>G (p.Asp209Glu)
c.564C>G (p.Asp188Glu)
n.774C>G
c.456C>G (p.Asp152Glu)
n.518C>G
19g.17283262C>TCA506095512ANKLE1c.498C>T (p.Asp166=)
n.715C>T
c.465C>T (p.Asp155=)
c.660C>T (p.Asp220=)
c.*397C>T (n.*397C>T)
n.611C>T
c.500C>T
c.627C>T (p.Asp209=)
c.564C>T (p.Asp188=)
n.774C>T
c.456C>T (p.Asp152=)
n.518C>T
19g.17283263T>ACA404744634ANKLE1c.499T>A (p.Ser167Thr)
n.716T>A
c.466T>A (p.Ser156Thr)
c.661T>A (p.Ser221Thr)
c.*398T>A (n.*398T>A)
n.612T>A
c.501T>A
c.628T>A (p.Ser210Thr)
c.565T>A (p.Ser189Thr)
n.775T>A
c.457T>A (p.Ser153Thr)
n.519T>A
19g.17283263T>CCA404744635ANKLE1c.499T>C (p.Ser167Pro)
n.716T>C
c.466T>C (p.Ser156Pro)
c.661T>C (p.Ser221Pro)
c.*398T>C (n.*398T>C)
n.612T>C
c.501T>C
c.628T>C (p.Ser210Pro)
c.565T>C (p.Ser189Pro)
n.775T>C
c.457T>C (p.Ser153Pro)
n.519T>C
19g.17283263T>GCA404744636ANKLE1c.499T>G (p.Ser167Ala)
n.716T>G
c.466T>G (p.Ser156Ala)
c.661T>G (p.Ser221Ala)
c.*398T>G (n.*398T>G)
n.612T>G
c.501T>G
c.628T>G (p.Ser210Ala)
c.565T>G (p.Ser189Ala)
n.775T>G
c.457T>G (p.Ser153Ala)
n.519T>G
19g.17283264C>ACA404744638ANKLE1c.500C>A (p.Ser167Tyr)
n.717C>A
c.467C>A (p.Ser156Tyr)
c.662C>A (p.Ser221Tyr)
c.*399C>A (n.*399C>A)
n.613C>A
c.502C>A
c.629C>A (p.Ser210Tyr)
c.566C>A (p.Ser189Tyr)
n.776C>A
c.458C>A (p.Ser153Tyr)
n.520C>A
19g.17283264C=CA2325780441ANKLE1c.500C= (p.Ser167=)
n.717C=
c.467C= (p.Ser156=)
c.662C= (p.Ser221=)
c.*399C= (n.*399C=)
n.613C=
c.502C=
c.629C= (p.Ser210=)
c.566C= (p.Ser189=)
n.776C=
c.458C= (p.Ser153=)
n.520C=
19g.17283264C>GCA404744637ANKLE1c.500C>G (p.Ser167Cys)
n.717C>G
c.467C>G (p.Ser156Cys)
c.662C>G (p.Ser221Cys)
c.*399C>G (n.*399C>G)
n.613C>G
c.502C>G
c.629C>G (p.Ser210Cys)
c.566C>G (p.Ser189Cys)
n.776C>G
c.458C>G (p.Ser153Cys)
n.520C>G
19g.17283264C>TCA306086149ANKLE1c.500C>T (p.Ser167Phe)
n.717C>T
c.467C>T (p.Ser156Phe)
c.662C>T (p.Ser221Phe)
c.*399C>T (n.*399C>T)
n.613C>T
c.502C>T
c.629C>T (p.Ser210Phe)
c.566C>T (p.Ser189Phe)
n.776C>T
c.458C>T (p.Ser153Phe)
n.520C>T
 dbSNP
19g.17283265C>ACA506095519ANKLE1c.501C>A (p.Ser167=)
n.718C>A
c.468C>A (p.Ser156=)
c.663C>A (p.Ser221=)
c.*400C>A (n.*400C>A)
n.614C>A
c.503C>A
c.630C>A (p.Ser210=)
c.567C>A (p.Ser189=)
n.777C>A
c.459C>A (p.Ser153=)
n.521C>A
19g.17283265C=CA2325780442ANKLE1c.501C= (p.Ser167=)
n.718C=
c.468C= (p.Ser156=)
c.663C= (p.Ser221=)
c.*400C= (n.*400C=)
n.614C=
c.503C=
c.630C= (p.Ser210=)
c.567C= (p.Ser189=)
n.777C=
c.459C= (p.Ser153=)
n.521C=
19g.17283265C>GCA506095517ANKLE1c.501C>G (p.Ser167=)
n.718C>G
c.468C>G (p.Ser156=)
c.663C>G (p.Ser221=)
c.*400C>G (n.*400C>G)
n.614C>G
c.503C>G
c.630C>G (p.Ser210=)
c.567C>G (p.Ser189=)
n.777C>G
c.459C>G (p.Ser153=)
n.521C>G
19g.17283265C>TCA506095518ANKLE1c.501C>T (p.Ser167=)
n.718C>T
c.468C>T (p.Ser156=)
c.663C>T (p.Ser221=)
c.*400C>T (n.*400C>T)
n.614C>T
c.503C>T
c.630C>T (p.Ser210=)
c.567C>T (p.Ser189=)
n.777C>T
c.459C>T (p.Ser153=)
n.521C>T
 dbSNP
19g.17283266A=CA2325780443ANKLE1c.502A= (p.Ile168=)
n.719A=
c.469A= (p.Ile157=)
c.664A= (p.Ile222=)
c.*401A= (n.*401A=)
n.615A=
c.504A=
c.631A= (p.Ile211=)
c.568A= (p.Ile190=)
n.778A=
c.460A= (p.Ile154=)
n.522A=
19g.17283266A>CCA404744639ANKLE1c.502A>C (p.Ile168Leu)
n.719A>C
c.469A>C (p.Ile157Leu)
c.664A>C (p.Ile222Leu)
c.*401A>C (n.*401A>C)
n.615A>C
c.504A>C
c.631A>C (p.Ile211Leu)
c.568A>C (p.Ile190Leu)
n.778A>C
c.460A>C (p.Ile154Leu)
n.522A>C
19g.17283266A>GCA404744640ANKLE1c.502A>G (p.Ile168Val)
n.719A>G
c.469A>G (p.Ile157Val)
c.664A>G (p.Ile222Val)
c.*401A>G (n.*401A>G)
n.615A>G
c.504A>G
c.631A>G (p.Ile211Val)
c.568A>G (p.Ile190Val)
n.778A>G
c.460A>G (p.Ile154Val)
n.522A>G
 dbSNP gnomAD v3 gnomAD v4
19g.17283266A>TCA404744641ANKLE1c.502A>T (p.Ile168Leu)
n.719A>T
c.469A>T (p.Ile157Leu)
c.664A>T (p.Ile222Leu)
c.*401A>T (n.*401A>T)
n.615A>T
c.504A>T
c.631A>T (p.Ile211Leu)
c.568A>T (p.Ile190Leu)
n.778A>T
c.460A>T (p.Ile154Leu)
n.522A>T
19g.17283267T>ACA404744642ANKLE1c.503T>A (p.Ile168Lys)
n.720T>A
c.470T>A (p.Ile157Lys)
c.665T>A (p.Ile222Lys)
c.*402T>A (n.*402T>A)
n.616T>A
c.505T>A
c.632T>A (p.Ile211Lys)
c.569T>A (p.Ile190Lys)
n.779T>A
c.461T>A (p.Ile154Lys)
n.523T>A
19g.17283267T>CCA404744643ANKLE1c.503T>C (p.Ile168Thr)
n.720T>C
c.470T>C (p.Ile157Thr)
c.665T>C (p.Ile222Thr)
c.*402T>C (n.*402T>C)
n.616T>C
c.505T>C
c.632T>C (p.Ile211Thr)
c.569T>C (p.Ile190Thr)
n.779T>C
c.461T>C (p.Ile154Thr)
n.523T>C
 dbSNP gnomAD v2 gnomAD v4
19g.17283267T>GCA404744644ANKLE1c.503T>G (p.Ile168Arg)
n.720T>G
c.470T>G (p.Ile157Arg)
c.665T>G (p.Ile222Arg)
c.*402T>G (n.*402T>G)
n.616T>G
c.505T>G
c.632T>G (p.Ile211Arg)
c.569T>G (p.Ile190Arg)
n.779T>G
c.461T>G (p.Ile154Arg)
n.523T>G
19g.17283267T=CA2325780444ANKLE1c.503T= (p.Ile168=)
n.720T=
c.470T= (p.Ile157=)
c.665T= (p.Ile222=)
c.*402T= (n.*402T=)
n.616T=
c.505T=
c.632T= (p.Ile211=)
c.569T= (p.Ile190=)
n.779T=
c.461T= (p.Ile154=)
n.523T=
19g.17283268A>CCA506095523ANKLE1c.504A>C (p.Ile168=)
n.721A>C
c.471A>C (p.Ile157=)
c.666A>C (p.Ile222=)
c.*403A>C (n.*403A>C)
n.617A>C
c.506A>C
c.633A>C (p.Ile211=)
c.570A>C (p.Ile190=)
n.780A>C
c.462A>C (p.Ile154=)
n.524A>C
19g.17283268A>GCA404744645ANKLE1c.504A>G (p.Ile168Met)
n.721A>G
c.471A>G (p.Ile157Met)
c.666A>G (p.Ile222Met)
c.*403A>G (n.*403A>G)
n.617A>G
c.506A>G
c.633A>G (p.Ile211Met)
c.570A>G (p.Ile190Met)
n.780A>G
c.462A>G (p.Ile154Met)
n.524A>G
19g.17283268A>TCA506095524ANKLE1c.504A>T (p.Ile168=)
n.721A>T
c.471A>T (p.Ile157=)
c.666A>T (p.Ile222=)
c.*403A>T (n.*403A>T)
n.617A>T
c.506A>T
c.633A>T (p.Ile211=)
c.570A>T (p.Ile190=)
n.780A>T
c.462A>T (p.Ile154=)
n.524A>T
19g.17283269G>ACA404744646ANKLE1c.505G>A (p.Ala169Thr)
n.722G>A
c.472G>A (p.Ala158Thr)
c.667G>A (p.Ala223Thr)
c.*404G>A (n.*404G>A)
n.618G>A
c.507G>A
c.634G>A (p.Ala212Thr)
c.571G>A (p.Ala191Thr)
n.781G>A
c.463G>A (p.Ala155Thr)
n.525G>A
 dbSNP gnomAD v2 gnomAD v4
19g.17283269G>CCA404744647ANKLE1c.505G>C (p.Ala169Pro)
n.722G>C
c.472G>C (p.Ala158Pro)
c.667G>C (p.Ala223Pro)
c.*404G>C (n.*404G>C)
n.618G>C
c.507G>C
c.634G>C (p.Ala212Pro)
c.571G>C (p.Ala191Pro)
n.781G>C
c.463G>C (p.Ala155Pro)
n.525G>C
19g.17283269G=CA2325780445ANKLE1c.505G= (p.Ala169=)
n.722G=
c.472G= (p.Ala158=)
c.667G= (p.Ala223=)
c.*404G= (n.*404G=)
n.618G=
c.507G=
c.634G= (p.Ala212=)
c.571G= (p.Ala191=)
n.781G=
c.463G= (p.Ala155=)
n.525G=
19g.17283269G>TCA404744648ANKLE1c.505G>T (p.Ala169Ser)
n.722G>T
c.472G>T (p.Ala158Ser)
c.667G>T (p.Ala223Ser)
c.*404G>T (n.*404G>T)
n.618G>T
c.507G>T
c.634G>T (p.Ala212Ser)
c.571G>T (p.Ala191Ser)
n.781G>T
c.463G>T (p.Ala155Ser)
n.525G>T
19g.17283270C>ACA404744649ANKLE1c.506C>A (p.Ala169Glu)
n.723C>A
c.473C>A (p.Ala158Glu)
c.668C>A (p.Ala223Glu)
c.*405C>A (n.*405C>A)
n.619C>A
c.508C>A
c.635C>A (p.Ala212Glu)
c.572C>A (p.Ala191Glu)
n.782C>A
c.464C>A (p.Ala155Glu)
n.526C>A
19g.17283270C=CA2325780446ANKLE1c.506C= (p.Ala169=)
n.723C=
c.473C= (p.Ala158=)
c.668C= (p.Ala223=)
c.*405C= (n.*405C=)
n.619C=
c.508C=
c.635C= (p.Ala212=)
c.572C= (p.Ala191=)
n.782C=
c.464C= (p.Ala155=)
n.526C=
19g.17283270C>GCA404744650ANKLE1c.506C>G (p.Ala169Gly)
n.723C>G
c.473C>G (p.Ala158Gly)
c.668C>G (p.Ala223Gly)
c.*405C>G (n.*405C>G)
n.619C>G
c.508C>G
c.635C>G (p.Ala212Gly)
c.572C>G (p.Ala191Gly)
n.782C>G
c.464C>G (p.Ala155Gly)
n.526C>G
19g.17283270C>TCA9291123ANKLE1c.506C>T (p.Ala169Val)
n.723C>T
c.473C>T (p.Ala158Val)
c.668C>T (p.Ala223Val)
c.*405C>T (n.*405C>T)
n.619C>T
c.508C>T
c.635C>T (p.Ala212Val)
c.572C>T (p.Ala191Val)
n.782C>T
c.464C>T (p.Ala155Val)
n.526C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.17283271A=CA2325780447ANKLE1c.507A= (p.Ala169=)
n.724A=
c.474A= (p.Ala158=)
c.669A= (p.Ala223=)
c.*406A= (n.*406A=)
n.620A=
c.509A=
c.636A= (p.Ala212=)
c.573A= (p.Ala191=)
n.783A=
c.465A= (p.Ala155=)
n.527A=
19g.17283271A>CCA506095526ANKLE1c.507A>C (p.Ala169=)
n.724A>C
c.474A>C (p.Ala158=)
c.669A>C (p.Ala223=)
c.*406A>C (n.*406A>C)
n.620A>C
c.509A>C
c.636A>C (p.Ala212=)
c.573A>C (p.Ala191=)
n.783A>C
c.465A>C (p.Ala155=)
n.527A>C
19g.17283271A>GCA506095528ANKLE1c.507A>G (p.Ala169=)
n.724A>G
c.474A>G (p.Ala158=)
c.669A>G (p.Ala223=)
c.*406A>G (n.*406A>G)
n.620A>G
c.509A>G
c.636A>G (p.Ala212=)
c.573A>G (p.Ala191=)
n.783A>G
c.465A>G (p.Ala155=)
n.527A>G
 dbSNP gnomAD v3 gnomAD v4
19g.17283271A>TCA506095529ANKLE1c.507A>T (p.Ala169=)
n.724A>T
c.474A>T (p.Ala158=)
c.669A>T (p.Ala223=)
c.*406A>T (n.*406A>T)
n.620A>T
c.509A>T
c.636A>T (p.Ala212=)
c.573A>T (p.Ala191=)
n.783A>T
c.465A>T (p.Ala155=)
n.527A>T
19g.17283272C>ACA404744651ANKLE1c.508C>A (p.Leu170Ile)
n.725C>A
c.475C>A (p.Leu159Ile)
c.670C>A (p.Leu224Ile)
c.*407C>A (n.*407C>A)
n.621C>A
c.510C>A
c.637C>A (p.Leu213Ile)
c.574C>A (p.Leu192Ile)
n.784C>A
c.466C>A (p.Leu156Ile)
n.528C>A
19g.17283272C=CA2325780448ANKLE1c.508C= (p.Leu170=)
n.725C=
c.475C= (p.Leu159=)
c.670C= (p.Leu224=)
c.*407C= (n.*407C=)
n.621C=
c.510C=
c.637C= (p.Leu213=)
c.574C= (p.Leu192=)
n.784C=
c.466C= (p.Leu156=)
n.528C=
19g.17283272C>GCA404744653ANKLE1c.508C>G (p.Leu170Val)
n.725C>G
c.475C>G (p.Leu159Val)
c.670C>G (p.Leu224Val)
c.*407C>G (n.*407C>G)
n.621C>G
c.510C>G
c.637C>G (p.Leu213Val)
c.574C>G (p.Leu192Val)
n.784C>G
c.466C>G (p.Leu156Val)
n.528C>G
19g.17283272C>TCA404744652ANKLE1c.508C>T (p.Leu170Phe)
n.725C>T
c.475C>T (p.Leu159Phe)
c.670C>T (p.Leu224Phe)
c.*407C>T (n.*407C>T)
n.621C>T
c.510C>T
c.637C>T (p.Leu213Phe)
c.574C>T (p.Leu192Phe)
n.784C>T
c.466C>T (p.Leu156Phe)
n.528C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.17283272_17283273insCCCCCA2583322991ANKLE1c.508_509insCCCC (p.Leu170ProfsTer10)
n.725_726insCCCC
c.475_476insCCCC (p.Leu159ProfsTer10)
c.670_671insCCCC (p.Leu224ProfsTer10)
c.*407_*408insCCCC (n.*407_*408insCCCC)
n.621_622insCCCC
c.510_511insCCCC
c.637_638insCCCC (p.Leu213ProfsTer10)
c.574_575insCCCC (p.Leu192ProfsTer10)
n.784_785insCCCC
c.466_467insCCCC (p.Leu156ProfsTer10)
n.528_529insCCCC
 gnomAD v4
19g.17283273T>ACA404744654ANKLE1c.509T>A (p.Leu170His)
n.726T>A
c.476T>A (p.Leu159His)
c.671T>A (p.Leu224His)
c.*408T>A (n.*408T>A)
n.622T>A
c.511T>A
c.638T>A (p.Leu213His)
c.575T>A (p.Leu192His)
n.785T>A
c.467T>A (p.Leu156His)
n.529T>A
19g.17283273T>CCA404744655ANKLE1c.509T>C (p.Leu170Pro)
n.726T>C
c.476T>C (p.Leu159Pro)
c.671T>C (p.Leu224Pro)
c.*408T>C (n.*408T>C)
n.622T>C
c.511T>C
c.638T>C (p.Leu213Pro)
c.575T>C (p.Leu192Pro)
n.785T>C
c.467T>C (p.Leu156Pro)
n.529T>C
19g.17283273T>GCA404744656ANKLE1c.509T>G (p.Leu170Arg)
n.726T>G
c.476T>G (p.Leu159Arg)
c.671T>G (p.Leu224Arg)
c.*408T>G (n.*408T>G)
n.622T>G
c.511T>G
c.638T>G (p.Leu213Arg)
c.575T>G (p.Leu192Arg)
n.785T>G
c.467T>G (p.Leu156Arg)
n.529T>G
19g.17283274C>ACA506095532ANKLE1c.510C>A (p.Leu170=)
n.727C>A
c.477C>A (p.Leu159=)
c.672C>A (p.Leu224=)
c.*409C>A (n.*409C>A)
n.623C>A
c.512C>A
c.639C>A (p.Leu213=)
c.576C>A (p.Leu192=)
n.786C>A
c.468C>A (p.Leu156=)
n.530C>A
19g.17283274C>GCA506095533ANKLE1c.510C>G (p.Leu170=)
n.727C>G
c.477C>G (p.Leu159=)
c.672C>G (p.Leu224=)
c.*409C>G (n.*409C>G)
n.623C>G
c.512C>G
c.639C>G (p.Leu213=)
c.576C>G (p.Leu192=)
n.786C>G
c.468C>G (p.Leu156=)
n.530C>G
19g.17283274C>TCA506095534ANKLE1c.510C>T (p.Leu170=)
n.727C>T
c.477C>T (p.Leu159=)
c.672C>T (p.Leu224=)
c.*409C>T (n.*409C>T)
n.623C>T
c.512C>T
c.639C>T (p.Leu213=)
c.576C>T (p.Leu192=)
n.786C>T
c.468C>T (p.Leu156=)
n.530C>T
 gnomAD v4
19g.17283275C>ACA404744657ANKLE1c.511C>A (p.Gln171Lys)
n.728C>A
c.478C>A (p.Gln160Lys)
c.673C>A (p.Gln225Lys)
c.*410C>A (n.*410C>A)
n.624C>A
c.513C>A
c.640C>A (p.Gln214Lys)
c.577C>A (p.Gln193Lys)
n.787C>A
c.469C>A (p.Gln157Lys)
n.531C>A
19g.17283275C=CA2325780449ANKLE1c.511C= (p.Gln171=)
n.728C=
c.478C= (p.Gln160=)
c.673C= (p.Gln225=)
c.*410C= (n.*410C=)
n.624C=
c.513C=
c.640C= (p.Gln214=)
c.577C= (p.Gln193=)
n.787C=
c.469C= (p.Gln157=)
n.531C=
19g.17283275C>GCA404744658ANKLE1c.511C>G (p.Gln171Glu)
n.728C>G
c.478C>G (p.Gln160Glu)
c.673C>G (p.Gln225Glu)
c.*410C>G (n.*410C>G)
n.624C>G
c.513C>G
c.640C>G (p.Gln214Glu)
c.577C>G (p.Gln193Glu)
n.787C>G
c.469C>G (p.Gln157Glu)
n.531C>G
 dbSNP gnomAD v3 gnomAD v4
19g.17283275C>TCA404744659ANKLE1c.511C>T (p.Gln171Ter)
n.728C>T
c.478C>T (p.Gln160Ter)
c.673C>T (p.Gln225Ter)
c.*410C>T (n.*410C>T)
n.624C>T
c.513C>T
c.640C>T (p.Gln214Ter)
c.577C>T (p.Gln193Ter)
n.787C>T
c.469C>T (p.Gln157Ter)
n.531C>T
19g.17283276A>CCA404744660ANKLE1c.512A>C (p.Gln171Pro)
n.729A>C
c.479A>C (p.Gln160Pro)
c.674A>C (p.Gln225Pro)
c.*411A>C (n.*411A>C)
n.625A>C
c.514A>C
c.641A>C (p.Gln214Pro)
c.578A>C (p.Gln193Pro)
n.788A>C
c.470A>C (p.Gln157Pro)
n.532A>C
19g.17283276A>GCA404744661ANKLE1c.512A>G (p.Gln171Arg)
n.729A>G
c.479A>G (p.Gln160Arg)
c.674A>G (p.Gln225Arg)
c.*411A>G (n.*411A>G)
n.625A>G
c.514A>G
c.641A>G (p.Gln214Arg)
c.578A>G (p.Gln193Arg)
n.788A>G
c.470A>G (p.Gln157Arg)
n.532A>G
19g.17283276A>TCA404744662ANKLE1c.512A>T (p.Gln171Leu)
n.729A>T
c.479A>T (p.Gln160Leu)
c.674A>T (p.Gln225Leu)
c.*411A>T (n.*411A>T)
n.625A>T
c.514A>T
c.641A>T (p.Gln214Leu)
c.578A>T (p.Gln193Leu)
n.788A>T
c.470A>T (p.Gln157Leu)
n.532A>T
19g.17283277A>CCA404744663ANKLE1c.513A>C (p.Gln171His)
n.730A>C
c.480A>C (p.Gln160His)
c.675A>C (p.Gln225His)
c.*412A>C (n.*412A>C)
n.626A>C
c.515A>C
c.642A>C (p.Gln214His)
c.579A>C (p.Gln193His)
n.789A>C
c.471A>C (p.Gln157His)
n.533A>C
19g.17283277A>GCA506095539ANKLE1c.513A>G (p.Gln171=)
n.730A>G
c.480A>G (p.Gln160=)
c.675A>G (p.Gln225=)
c.*412A>G (n.*412A>G)
n.626A>G
c.515A>G
c.642A>G (p.Gln214=)
c.579A>G (p.Gln193=)
n.789A>G
c.471A>G (p.Gln157=)
n.533A>G
19g.17283277A>TCA404744664ANKLE1c.513A>T (p.Gln171His)
n.730A>T
c.480A>T (p.Gln160His)
c.675A>T (p.Gln225His)
c.*412A>T (n.*412A>T)
n.626A>T
c.515A>T
c.642A>T (p.Gln214His)
c.579A>T (p.Gln193His)
n.789A>T
c.471A>T (p.Gln157His)
n.533A>T
19g.17283278A=CA2325780450ANKLE1c.514A= (p.Lys172=)
n.731A=
c.481A= (p.Lys161=)
c.676A= (p.Lys226=)
c.*413A= (n.*413A=)
n.627A=
c.516A=
c.643A= (p.Lys215=)
c.580A= (p.Lys194=)
n.790A=
c.472A= (p.Lys158=)
n.534A=
19g.17283278A>CCA404744665ANKLE1c.514A>C (p.Lys172Gln)
n.731A>C
c.481A>C (p.Lys161Gln)
c.676A>C (p.Lys226Gln)
c.*413A>C (n.*413A>C)
n.627A>C
c.516A>C
c.643A>C (p.Lys215Gln)
c.580A>C (p.Lys194Gln)
n.790A>C
c.472A>C (p.Lys158Gln)
n.534A>C
19g.17283278A>GCA404744666ANKLE1c.514A>G (p.Lys172Glu)
n.731A>G
c.481A>G (p.Lys161Glu)
c.676A>G (p.Lys226Glu)
c.*413A>G (n.*413A>G)
n.627A>G
c.516A>G
c.643A>G (p.Lys215Glu)
c.580A>G (p.Lys194Glu)
n.790A>G
c.472A>G (p.Lys158Glu)
n.534A>G
19g.17283278A>TCA9291124ANKLE1c.514A>T (p.Lys172Ter)
n.731A>T
c.481A>T (p.Lys161Ter)
c.676A>T (p.Lys226Ter)
c.*413A>T (n.*413A>T)
n.627A>T
c.516A>T
c.643A>T (p.Lys215Ter)
c.580A>T (p.Lys194Ter)
n.790A>T
c.472A>T (p.Lys158Ter)
n.534A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.17283279A>CCA404744669ANKLE1c.515A>C (p.Lys172Thr)
n.732A>C
c.482A>C (p.Lys161Thr)
c.677A>C (p.Lys226Thr)
c.*414A>C (n.*414A>C)
n.628A>C
c.517A>C
c.644A>C (p.Lys215Thr)
c.581A>C (p.Lys194Thr)
n.791A>C
c.473A>C (p.Lys158Thr)
n.535A>C
19g.17283279A>GCA404744667ANKLE1c.515A>G (p.Lys172Arg)
n.732A>G
c.482A>G (p.Lys161Arg)
c.677A>G (p.Lys226Arg)
c.*414A>G (n.*414A>G)
n.628A>G
c.517A>G
c.644A>G (p.Lys215Arg)
c.581A>G (p.Lys194Arg)
n.791A>G
c.473A>G (p.Lys158Arg)
n.535A>G
19g.17283279A>TCA404744668ANKLE1c.515A>T (p.Lys172Met)
n.732A>T
c.482A>T (p.Lys161Met)
c.677A>T (p.Lys226Met)
c.*414A>T (n.*414A>T)
n.628A>T
c.517A>T
c.644A>T (p.Lys215Met)
c.581A>T (p.Lys194Met)
n.791A>T
c.473A>T (p.Lys158Met)
n.535A>T
19g.17283280G>ACA506095543ANKLE1c.516G>A (p.Lys172=)
n.733G>A
c.483G>A (p.Lys161=)
c.678G>A (p.Lys226=)
c.*415G>A (n.*415G>A)
n.629G>A
c.518G>A
c.645G>A (p.Lys215=)
c.582G>A (p.Lys194=)
n.792G>A
c.474G>A (p.Lys158=)
n.536G>A
19g.17283280G>CCA404744670ANKLE1c.516G>C (p.Lys172Asn)
n.733G>C
c.483G>C (p.Lys161Asn)
c.678G>C (p.Lys226Asn)
c.*415G>C (n.*415G>C)
n.629G>C
c.518G>C
c.645G>C (p.Lys215Asn)
c.582G>C (p.Lys194Asn)
n.792G>C
c.474G>C (p.Lys158Asn)
n.536G>C
19g.17283280G>TCA404744671ANKLE1c.516G>T (p.Lys172Asn)
n.733G>T
c.483G>T (p.Lys161Asn)
c.678G>T (p.Lys226Asn)
c.*415G>T (n.*415G>T)
n.629G>T
c.518G>T
c.645G>T (p.Lys215Asn)
c.582G>T (p.Lys194Asn)
n.792G>T
c.474G>T (p.Lys158Asn)
n.536G>T
19g.17283281C>ACA404744672ANKLE1c.517C>A (p.Gln173Lys)
n.734C>A
c.484C>A (p.Gln162Lys)
c.679C>A (p.Gln227Lys)
c.*416C>A (n.*416C>A)
n.630C>A
c.519C>A
c.646C>A (p.Gln216Lys)
c.583C>A (p.Gln195Lys)
n.793C>A
c.475C>A (p.Gln159Lys)
n.537C>A
19g.17283281C=CA2325780451ANKLE1c.517C= (p.Gln173=)
n.734C=
c.484C= (p.Gln162=)
c.679C= (p.Gln227=)
c.*416C= (n.*416C=)
n.630C=
c.519C=
c.646C= (p.Gln216=)
c.583C= (p.Gln195=)
n.793C=
c.475C= (p.Gln159=)
n.537C=
19g.17283281C>GCA404744673ANKLE1c.517C>G (p.Gln173Glu)
n.734C>G
c.484C>G (p.Gln162Glu)
c.679C>G (p.Gln227Glu)
c.*416C>G (n.*416C>G)
n.630C>G
c.519C>G
c.646C>G (p.Gln216Glu)
c.583C>G (p.Gln195Glu)
n.793C>G
c.475C>G (p.Gln159Glu)
n.537C>G
 dbSNP
19g.17283281C>TCA404744674ANKLE1c.517C>T (p.Gln173Ter)
n.734C>T
c.484C>T (p.Gln162Ter)
c.679C>T (p.Gln227Ter)
c.*416C>T (n.*416C>T)
n.630C>T
c.519C>T
c.646C>T (p.Gln216Ter)
c.583C>T (p.Gln195Ter)
n.793C>T
c.475C>T (p.Gln159Ter)
n.537C>T
 dbSNP
19g.17283282A>CCA404744675ANKLE1c.518A>C (p.Gln173Pro)
n.735A>C
c.485A>C (p.Gln162Pro)
c.680A>C (p.Gln227Pro)
c.*417A>C (n.*417A>C)
n.631A>C
c.520A>C
c.647A>C (p.Gln216Pro)
c.584A>C (p.Gln195Pro)
n.794A>C
c.476A>C (p.Gln159Pro)
n.538A>C
 gnomAD v4
19g.17283282A>GCA404744676ANKLE1c.518A>G (p.Gln173Arg)
n.735A>G
c.485A>G (p.Gln162Arg)
c.680A>G (p.Gln227Arg)
c.*417A>G (n.*417A>G)
n.631A>G
c.520A>G
c.647A>G (p.Gln216Arg)
c.584A>G (p.Gln195Arg)
n.794A>G
c.476A>G (p.Gln159Arg)
n.538A>G
 gnomAD v4
19g.17283282A>TCA404744677ANKLE1c.518A>T (p.Gln173Leu)
n.735A>T
c.485A>T (p.Gln162Leu)
c.680A>T (p.Gln227Leu)
c.*417A>T (n.*417A>T)
n.631A>T
c.520A>T
c.647A>T (p.Gln216Leu)
c.584A>T (p.Gln195Leu)
n.794A>T
c.476A>T (p.Gln159Leu)
n.538A>T
19g.17283283G>ACA506095550ANKLE1c.519G>A (p.Gln173=)
n.736G>A
c.486G>A (p.Gln162=)
c.681G>A (p.Gln227=)
c.*418G>A (n.*418G>A)
n.632G>A
c.521G>A
c.648G>A (p.Gln216=)
c.585G>A (p.Gln195=)
n.795G>A
c.477G>A (p.Gln159=)
n.539G>A
19g.17283283G>CCA404744678ANKLE1c.519G>C (p.Gln173His)
n.736G>C
c.486G>C (p.Gln162His)
c.681G>C (p.Gln227His)
c.*418G>C (n.*418G>C)
n.632G>C
c.521G>C
c.648G>C (p.Gln216His)
c.585G>C (p.Gln195His)
n.795G>C
c.477G>C (p.Gln159His)
n.539G>C
19g.17283283G>TCA404744679ANKLE1c.519G>T (p.Gln173His)
n.736G>T
c.486G>T (p.Gln162His)
c.681G>T (p.Gln227His)
c.*418G>T (n.*418G>T)
n.632G>T
c.521G>T
c.648G>T (p.Gln216His)
c.585G>T (p.Gln195His)
n.795G>T
c.477G>T (p.Gln159His)
n.539G>T
 gnomAD v4
19g.17283284C>ACA404744681ANKLE1c.520C>A (p.Pro174Thr)
n.737C>A
c.487C>A (p.Pro163Thr)
c.682C>A (p.Pro228Thr)
c.*419C>A (n.*419C>A)
n.633C>A
c.522C>A
c.649C>A (p.Pro217Thr)
c.586C>A (p.Pro196Thr)
n.796C>A
c.478C>A (p.Pro160Thr)
n.540C>A
19g.17283284C>GCA404744682ANKLE1c.520C>G (p.Pro174Ala)
n.737C>G
c.487C>G (p.Pro163Ala)
c.682C>G (p.Pro228Ala)
c.*419C>G (n.*419C>G)
n.633C>G
c.522C>G
c.649C>G (p.Pro217Ala)
c.586C>G (p.Pro196Ala)
n.796C>G
c.478C>G (p.Pro160Ala)
n.540C>G
 dbSNP
19g.17283284C>TCA404744680ANKLE1c.520C>T (p.Pro174Ser)
n.737C>T
c.487C>T (p.Pro163Ser)
c.682C>T (p.Pro228Ser)
c.*419C>T (n.*419C>T)
n.633C>T
c.522C>T
c.649C>T (p.Pro217Ser)
c.586C>T (p.Pro196Ser)
n.796C>T
c.478C>T (p.Pro160Ser)
n.540C>T
19g.17283285C>ACA404744683ANKLE1c.521C>A (p.Pro174Gln)
n.738C>A
c.488C>A (p.Pro163Gln)
c.683C>A (p.Pro228Gln)
c.*420C>A (n.*420C>A)
n.634C>A
c.523C>A
c.650C>A (p.Pro217Gln)
c.587C>A (p.Pro196Gln)
n.797C>A
c.479C>A (p.Pro160Gln)
n.541C>A
19g.17283285C>GCA404744684ANKLE1c.521C>G (p.Pro174Arg)
n.738C>G
c.488C>G (p.Pro163Arg)
c.683C>G (p.Pro228Arg)
c.*420C>G (n.*420C>G)
n.634C>G
c.523C>G
c.650C>G (p.Pro217Arg)
c.587C>G (p.Pro196Arg)
n.797C>G
c.479C>G (p.Pro160Arg)
n.541C>G
19g.17283285C>TCA404744685ANKLE1c.521C>T (p.Pro174Leu)
n.738C>T
c.488C>T (p.Pro163Leu)
c.683C>T (p.Pro228Leu)
c.*420C>T (n.*420C>T)
n.634C>T
c.523C>T
c.650C>T (p.Pro217Leu)
c.587C>T (p.Pro196Leu)
n.797C>T
c.479C>T (p.Pro160Leu)
n.541C>T
 dbSNP
19g.17283286A=CA2325780452ANKLE1c.522A= (p.Pro174=)
n.739A=
c.489A= (p.Pro163=)
c.684A= (p.Pro228=)
c.*421A= (n.*421A=)
n.635A=
c.524A=
c.651A= (p.Pro217=)
c.588A= (p.Pro196=)
n.798A=
c.480A= (p.Pro160=)
n.542A=
19g.17283286A>CCA506095551ANKLE1c.522A>C (p.Pro174=)
n.739A>C
c.489A>C (p.Pro163=)
c.684A>C (p.Pro228=)
c.*421A>C (n.*421A>C)
n.635A>C
c.524A>C
c.651A>C (p.Pro217=)
c.588A>C (p.Pro196=)
n.798A>C
c.480A>C (p.Pro160=)
n.542A>C
19g.17283286A>GCA506095553ANKLE1c.522A>G (p.Pro174=)
n.739A>G
c.489A>G (p.Pro163=)
c.684A>G (p.Pro228=)
c.*421A>G (n.*421A>G)
n.635A>G
c.524A>G
c.651A>G (p.Pro217=)
c.588A>G (p.Pro196=)
n.798A>G
c.480A>G (p.Pro160=)
n.542A>G
 dbSNP gnomAD v3 gnomAD v4
19g.17283286A>TCA506095552ANKLE1c.522A>T (p.Pro174=)
n.739A>T
c.489A>T (p.Pro163=)
c.684A>T (p.Pro228=)
c.*421A>T (n.*421A>T)
n.635A>T
c.524A>T
c.651A>T (p.Pro217=)
c.588A>T (p.Pro196=)
n.798A>T
c.480A>T (p.Pro160=)
n.542A>T
19g.17283287T>ACA404744686ANKLE1c.523T>A (p.Cys175Ser)
n.740T>A
c.490T>A (p.Cys164Ser)
c.685T>A (p.Cys229Ser)
c.*422T>A (n.*422T>A)
n.636T>A
c.525T>A
c.652T>A (p.Cys218Ser)
c.589T>A (p.Cys197Ser)
n.799T>A
c.481T>A (p.Cys161Ser)
n.543T>A
19g.17283287T>CCA9291125ANKLE1c.523T>C (p.Cys175Arg)
n.740T>C
c.490T>C (p.Cys164Arg)
c.685T>C (p.Cys229Arg)
c.*422T>C (n.*422T>C)
n.636T>C
c.525T>C
c.652T>C (p.Cys218Arg)
c.589T>C (p.Cys197Arg)
n.799T>C
c.481T>C (p.Cys161Arg)
n.543T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.17283287T>GCA404744687ANKLE1c.523T>G (p.Cys175Gly)
n.740T>G
c.490T>G (p.Cys164Gly)
c.685T>G (p.Cys229Gly)
c.*422T>G (n.*422T>G)
n.636T>G
c.525T>G
c.652T>G (p.Cys218Gly)
c.589T>G (p.Cys197Gly)
n.799T>G
c.481T>G (p.Cys161Gly)
n.543T>G
 gnomAD v4
19g.17283287T=CA2325780453ANKLE1c.523T= (p.Cys175=)
n.740T=
c.490T= (p.Cys164=)
c.685T= (p.Cys229=)
c.*422T= (n.*422T=)
n.636T=
c.525T=
c.652T= (p.Cys218=)
c.589T= (p.Cys197=)
n.799T=
c.481T= (p.Cys161=)
n.543T=
19g.17283288G>ACA404744688ANKLE1c.524G>A (p.Cys175Tyr)
n.741G>A
c.491G>A (p.Cys164Tyr)
c.686G>A (p.Cys229Tyr)
c.*423G>A (n.*423G>A)
n.637G>A
c.526G>A
c.653G>A (p.Cys218Tyr)
c.590G>A (p.Cys197Tyr)
n.800G>A
c.482G>A (p.Cys161Tyr)
n.544G>A
 gnomAD v4
19g.17283288G>CCA404744690ANKLE1c.524G>C (p.Cys175Ser)
n.741G>C
c.491G>C (p.Cys164Ser)
c.686G>C (p.Cys229Ser)
c.*423G>C (n.*423G>C)
n.637G>C
c.526G>C
c.653G>C (p.Cys218Ser)
c.590G>C (p.Cys197Ser)
n.800G>C
c.482G>C (p.Cys161Ser)
n.544G>C
19g.17283288G>TCA404744689ANKLE1c.524G>T (p.Cys175Phe)
n.741G>T
c.491G>T (p.Cys164Phe)
c.686G>T (p.Cys229Phe)
c.*423G>T (n.*423G>T)
n.637G>T
c.526G>T
c.653G>T (p.Cys218Phe)
c.590G>T (p.Cys197Phe)
n.800G>T
c.482G>T (p.Cys161Phe)
n.544G>T
19g.17283289C>ACA404744691ANKLE1c.525C>A (p.Cys175Ter)
n.742C>A
c.492C>A (p.Cys164Ter)
c.687C>A (p.Cys229Ter)
c.*424C>A (n.*424C>A)
n.638C>A
c.527C>A
c.654C>A (p.Cys218Ter)
c.591C>A (p.Cys197Ter)
n.801C>A
c.483C>A (p.Cys161Ter)
n.545C>A
19g.17283289C=CA2325780454ANKLE1c.525C= (p.Cys175=)
n.742C=
c.492C= (p.Cys164=)
c.687C= (p.Cys229=)
c.*424C= (n.*424C=)
n.638C=
c.527C=
c.654C= (p.Cys218=)
c.591C= (p.Cys197=)
n.801C=
c.483C= (p.Cys161=)
n.545C=
19g.17283289C>GCA9291126ANKLE1c.525C>G (p.Cys175Trp)
n.742C>G
c.492C>G (p.Cys164Trp)
c.687C>G (p.Cys229Trp)
c.*424C>G (n.*424C>G)
n.638C>G
c.527C>G
c.654C>G (p.Cys218Trp)
c.591C>G (p.Cys197Trp)
n.801C>G
c.483C>G (p.Cys161Trp)
n.545C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.17283289C>TCA506095554ANKLE1c.525C>T (p.Cys175=)
n.742C>T
c.492C>T (p.Cys164=)
c.687C>T (p.Cys229=)
c.*424C>T (n.*424C>T)
n.638C>T
c.527C>T
c.654C>T (p.Cys218=)
c.591C>T (p.Cys197=)
n.801C>T
c.483C>T (p.Cys161=)
n.545C>T
 gnomAD v4
19g.17283290A=CA2325780455ANKLE1c.526A= (p.Arg176=)
n.743A=
c.493A= (p.Arg165=)
c.688A= (p.Arg230=)
c.*425A= (n.*425A=)
n.639A=
c.528A=
c.655A= (p.Arg219=)
c.592A= (p.Arg198=)
n.802A=
c.484A= (p.Arg162=)
n.546A=
19g.17283290A>CCA506095555ANKLE1c.526A>C (p.Arg176=)
n.743A>C
c.493A>C (p.Arg165=)
c.688A>C (p.Arg230=)
c.*425A>C (n.*425A>C)
n.639A>C
c.528A>C
c.655A>C (p.Arg219=)
c.592A>C (p.Arg198=)
n.802A>C
c.484A>C (p.Arg162=)
n.546A>C
19g.17283290A>GCA404744692ANKLE1c.526A>G (p.Arg176Gly)
n.743A>G
c.493A>G (p.Arg165Gly)
c.688A>G (p.Arg230Gly)
c.*425A>G (n.*425A>G)
n.639A>G
c.528A>G
c.655A>G (p.Arg219Gly)
c.592A>G (p.Arg198Gly)
n.802A>G
c.484A>G (p.Arg162Gly)
n.546A>G
19g.17283290A>TCA404744693ANKLE1c.526A>T (p.Arg176Ter)
n.743A>T
c.493A>T (p.Arg165Ter)
c.688A>T (p.Arg230Ter)
c.*425A>T (n.*425A>T)
n.639A>T
c.528A>T
c.655A>T (p.Arg219Ter)
c.592A>T (p.Arg198Ter)
n.802A>T
c.484A>T (p.Arg162Ter)
n.546A>T
 dbSNP
19g.17283291G>ACA404744696ANKLE1c.527G>A (p.Arg176Lys)
n.744G>A
c.494G>A (p.Arg165Lys)
c.689G>A (p.Arg230Lys)
c.*426G>A (n.*426G>A)
n.640G>A
c.529G>A
c.656G>A (p.Arg219Lys)
c.593G>A (p.Arg198Lys)
n.803G>A
c.485G>A (p.Arg162Lys)
n.547G>A
19g.17283291G>CCA404744695ANKLE1c.527G>C (p.Arg176Thr)
n.744G>C
c.494G>C (p.Arg165Thr)
c.689G>C (p.Arg230Thr)
c.*426G>C (n.*426G>C)
n.640G>C
c.529G>C
c.656G>C (p.Arg219Thr)
c.593G>C (p.Arg198Thr)
n.803G>C
c.485G>C (p.Arg162Thr)
n.547G>C
19g.17283291G>TCA404744694ANKLE1c.527G>T (p.Arg176Ile)
n.744G>T
c.494G>T (p.Arg165Ile)
c.689G>T (p.Arg230Ile)
c.*426G>T (n.*426G>T)
n.640G>T
c.529G>T
c.656G>T (p.Arg219Ile)
c.593G>T (p.Arg198Ile)
n.803G>T
c.485G>T (p.Arg162Ile)
n.547G>T
19g.17283292A>CCA404744697ANKLE1c.528A>C (p.Arg176Ser)
n.745A>C
c.495A>C (p.Arg165Ser)
c.690A>C (p.Arg230Ser)
c.*427A>C (n.*427A>C)
n.641A>C
c.530A>C
c.657A>C (p.Arg219Ser)
c.594A>C (p.Arg198Ser)
n.804A>C
c.486A>C (p.Arg162Ser)
n.548A>C
19g.17283292A>GCA506095556ANKLE1c.528A>G (p.Arg176=)
n.745A>G
c.495A>G (p.Arg165=)
c.690A>G (p.Arg230=)
c.*427A>G (n.*427A>G)
n.641A>G
c.530A>G
c.657A>G (p.Arg219=)
c.594A>G (p.Arg198=)
n.804A>G
c.486A>G (p.Arg162=)
n.548A>G
19g.17283292A>TCA404744698ANKLE1c.528A>T (p.Arg176Ser)
n.745A>T
c.495A>T (p.Arg165Ser)
c.690A>T (p.Arg230Ser)
c.*427A>T (n.*427A>T)
n.641A>T
c.530A>T
c.657A>T (p.Arg219Ser)
c.594A>T (p.Arg198Ser)
n.804A>T
c.486A>T (p.Arg162Ser)
n.548A>T
19g.17283293G>ACA404744699ANKLE1c.529G>A (p.Gly177Ser)
n.746G>A
c.496G>A (p.Gly166Ser)
c.691G>A (p.Gly231Ser)
c.*428G>A (n.*428G>A)
n.642G>A
c.531G>A
c.658G>A (p.Gly220Ser)
c.595G>A (p.Gly199Ser)
n.805G>A
c.487G>A (p.Gly163Ser)
n.549G>A
 gnomAD v4
19g.17283293G>CCA404744700ANKLE1c.529G>C (p.Gly177Arg)
n.746G>C
c.496G>C (p.Gly166Arg)
c.691G>C (p.Gly231Arg)
c.*428G>C (n.*428G>C)
n.642G>C
c.531G>C
c.658G>C (p.Gly220Arg)
c.595G>C (p.Gly199Arg)
n.805G>C
c.487G>C (p.Gly163Arg)
n.549G>C
19g.17283293G>TCA404744701ANKLE1c.529G>T (p.Gly177Cys)
n.746G>T
c.496G>T (p.Gly166Cys)
c.691G>T (p.Gly231Cys)
c.*428G>T (n.*428G>T)
n.642G>T
c.531G>T
c.658G>T (p.Gly220Cys)
c.595G>T (p.Gly199Cys)
n.805G>T
c.487G>T (p.Gly163Cys)
n.549G>T
19g.17283294G>ACA404744702ANKLE1c.530G>A (p.Gly177Asp)
n.747G>A
c.497G>A (p.Gly166Asp)
c.692G>A (p.Gly231Asp)
c.*429G>A (n.*429G>A)
n.643G>A
c.532G>A
c.659G>A (p.Gly220Asp)
c.596G>A (p.Gly199Asp)
n.806G>A
c.488G>A (p.Gly163Asp)
n.550G>A
 dbSNP
19g.17283294G>CCA404744703ANKLE1c.530G>C (p.Gly177Ala)
n.747G>C
c.497G>C (p.Gly166Ala)
c.692G>C (p.Gly231Ala)
c.*429G>C (n.*429G>C)
n.643G>C
c.532G>C
c.659G>C (p.Gly220Ala)
c.596G>C (p.Gly199Ala)
n.806G>C
c.488G>C (p.Gly163Ala)
n.550G>C
19g.17283294G=CA2325780456ANKLE1c.530G= (p.Gly177=)
n.747G=
c.497G= (p.Gly166=)
c.692G= (p.Gly231=)
c.*429G= (n.*429G=)
n.643G=
c.532G=
c.659G= (p.Gly220=)
c.596G= (p.Gly199=)
n.806G=
c.488G= (p.Gly163=)
n.550G=
19g.17283294G>TCA404744704ANKLE1c.530G>T (p.Gly177Val)
n.747G>T
c.497G>T (p.Gly166Val)
c.692G>T (p.Gly231Val)
c.*429G>T (n.*429G>T)
n.643G>T
c.532G>T
c.659G>T (p.Gly220Val)
c.596G>T (p.Gly199Val)
n.806G>T
c.488G>T (p.Gly163Val)
n.550G>T
 dbSNP gnomAD v4
19g.17283295T>ACA506095559ANKLE1c.531T>A (p.Gly177=)
n.748T>A
c.498T>A (p.Gly166=)
c.693T>A (p.Gly231=)
c.*430T>A (n.*430T>A)
n.644T>A
c.533T>A
c.660T>A (p.Gly220=)
c.597T>A (p.Gly199=)
n.807T>A
c.489T>A (p.Gly163=)
n.551T>A
19g.17283295T>CCA506095558ANKLE1c.531T>C (p.Gly177=)
n.748T>C
c.498T>C (p.Gly166=)
c.693T>C (p.Gly231=)
c.*430T>C (n.*430T>C)
n.644T>C
c.533T>C
c.660T>C (p.Gly220=)
c.597T>C (p.Gly199=)
n.807T>C
c.489T>C (p.Gly163=)
n.551T>C
19g.17283295T>GCA506095557ANKLE1c.531T>G (p.Gly177=)
n.748T>G
c.498T>G (p.Gly166=)
c.693T>G (p.Gly231=)
c.*430T>G (n.*430T>G)
n.644T>G
c.533T>G
c.660T>G (p.Gly220=)
c.597T>G (p.Gly199=)
n.807T>G
c.489T>G (p.Gly163=)
n.551T>G
19g.17283296G>ACA404744705ANKLE1c.532G>A (p.Asp178Asn)
n.749G>A
c.499G>A (p.Asp167Asn)
c.694G>A (p.Asp232Asn)
c.*431G>A (n.*431G>A)
n.645G>A
c.534G>A
c.661G>A (p.Asp221Asn)
c.598G>A (p.Asp200Asn)
n.808G>A
c.490G>A (p.Asp164Asn)
n.552G>A
19g.17283296G>CCA404744706ANKLE1c.532G>C (p.Asp178His)
n.749G>C
c.499G>C (p.Asp167His)
c.694G>C (p.Asp232His)
c.*431G>C (n.*431G>C)
n.645G>C
c.534G>C
c.661G>C (p.Asp221His)
c.598G>C (p.Asp200His)
n.808G>C
c.490G>C (p.Asp164His)
n.552G>C
19g.17283296G>TCA404744707ANKLE1c.532G>T (p.Asp178Tyr)
n.749G>T
c.499G>T (p.Asp167Tyr)
c.694G>T (p.Asp232Tyr)
c.*431G>T (n.*431G>T)
n.645G>T
c.534G>T
c.661G>T (p.Asp221Tyr)
c.598G>T (p.Asp200Tyr)
n.808G>T
c.490G>T (p.Asp164Tyr)
n.552G>T
19g.17283297A>CCA404744708ANKLE1c.533A>C (p.Asp178Ala)
n.750A>C
c.500A>C (p.Asp167Ala)
c.695A>C (p.Asp232Ala)
c.*432A>C (n.*432A>C)
n.646A>C
c.535A>C
c.662A>C (p.Asp221Ala)
c.599A>C (p.Asp200Ala)
n.809A>C
c.491A>C (p.Asp164Ala)
n.553A>C
19g.17283297A>GCA404744709ANKLE1c.533A>G (p.Asp178Gly)
n.750A>G
c.500A>G (p.Asp167Gly)
c.695A>G (p.Asp232Gly)
c.*432A>G (n.*432A>G)
n.646A>G
c.535A>G
c.662A>G (p.Asp221Gly)
c.599A>G (p.Asp200Gly)
n.809A>G
c.491A>G (p.Asp164Gly)
n.553A>G
19g.17283297A>TCA404744710ANKLE1c.533A>T (p.Asp178Val)
n.750A>T
c.500A>T (p.Asp167Val)
c.695A>T (p.Asp232Val)
c.*432A>T (n.*432A>T)
n.646A>T
c.535A>T
c.662A>T (p.Asp221Val)
c.599A>T (p.Asp200Val)
n.809A>T
c.491A>T (p.Asp164Val)
n.553A>T
19g.17283298C>ACA404744712ANKLE1c.534C>A (p.Asp178Glu)
n.751C>A
c.501C>A (p.Asp167Glu)
c.696C>A (p.Asp232Glu)
c.*433C>A (n.*433C>A)
n.647C>A
c.536C>A
c.663C>A (p.Asp221Glu)
c.600C>A (p.Asp200Glu)
n.810C>A
c.492C>A (p.Asp164Glu)
n.554C>A
19g.17283298C>GCA404744711ANKLE1c.534C>G (p.Asp178Glu)
n.751C>G
c.501C>G (p.Asp167Glu)
c.696C>G (p.Asp232Glu)
c.*433C>G (n.*433C>G)
n.647C>G
c.536C>G
c.663C>G (p.Asp221Glu)
c.600C>G (p.Asp200Glu)
n.810C>G
c.492C>G (p.Asp164Glu)
n.554C>G
19g.17283298C>TCA506095560ANKLE1c.534C>T (p.Asp178=)
n.751C>T
c.501C>T (p.Asp167=)
c.696C>T (p.Asp232=)
c.*433C>T (n.*433C>T)
n.647C>T
c.536C>T
c.663C>T (p.Asp221=)
c.600C>T (p.Asp200=)
n.810C>T
c.492C>T (p.Asp164=)
n.554C>T
 gnomAD v4
19g.17283299A=CA2325780457ANKLE1c.535A= (p.Asn179=)
n.752A=
c.502A= (p.Asn168=)
c.697A= (p.Asn233=)
c.*434A= (n.*434A=)
n.648A=
c.537A=
c.664A= (p.Asn222=)
c.601A= (p.Asn201=)
n.811A=
c.493A= (p.Asn165=)
n.555A=
19g.17283299A>CCA404744713ANKLE1c.535A>C (p.Asn179His)
n.752A>C
c.502A>C (p.Asn168His)
c.697A>C (p.Asn233His)
c.*434A>C (n.*434A>C)
n.648A>C
c.537A>C
c.664A>C (p.Asn222His)
c.601A>C (p.Asn201His)
n.811A>C
c.493A>C (p.Asn165His)
n.555A>C
19g.17283299A>GCA404744714ANKLE1c.535A>G (p.Asn179Asp)
n.752A>G
c.502A>G (p.Asn168Asp)
c.697A>G (p.Asn233Asp)
c.*434A>G (n.*434A>G)
n.648A>G
c.537A>G
c.664A>G (p.Asn222Asp)
c.601A>G (p.Asn201Asp)
n.811A>G
c.493A>G (p.Asn165Asp)
n.555A>G
 dbSNP
19g.17283299A>TCA404744715ANKLE1c.535A>T (p.Asn179Tyr)
n.752A>T
c.502A>T (p.Asn168Tyr)
c.697A>T (p.Asn233Tyr)
c.*434A>T (n.*434A>T)
n.648A>T
c.537A>T
c.664A>T (p.Asn222Tyr)
c.601A>T (p.Asn201Tyr)
n.811A>T
c.493A>T (p.Asn165Tyr)
n.555A>T
 dbSNP gnomAD v3 gnomAD v4
19g.17283300A=CA2325780458ANKLE1c.536A= (p.Asn179=)
n.753A=
c.503A= (p.Asn168=)
c.698A= (p.Asn233=)
c.*435A= (n.*435A=)
n.649A=
c.538A=
c.665A= (p.Asn222=)
c.602A= (p.Asn201=)
n.812A=
c.494A= (p.Asn165=)
n.556A=
19g.17283300A>CCA404744716ANKLE1c.536A>C (p.Asn179Thr)
n.753A>C
c.503A>C (p.Asn168Thr)
c.698A>C (p.Asn233Thr)
c.*435A>C (n.*435A>C)
n.649A>C
c.538A>C
c.665A>C (p.Asn222Thr)
c.602A>C (p.Asn201Thr)
n.812A>C
c.494A>C (p.Asn165Thr)
n.556A>C
19g.17283300A>GCA9291127ANKLE1c.536A>G (p.Asn179Ser)
n.753A>G
c.503A>G (p.Asn168Ser)
c.698A>G (p.Asn233Ser)
c.*435A>G (n.*435A>G)
n.649A>G
c.538A>G
c.665A>G (p.Asn222Ser)
c.602A>G (p.Asn201Ser)
n.812A>G
c.494A>G (p.Asn165Ser)
n.556A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.17283300A>TCA404744717ANKLE1c.536A>T (p.Asn179Ile)
n.753A>T
c.503A>T (p.Asn168Ile)
c.698A>T (p.Asn233Ile)
c.*435A>T (n.*435A>T)
n.649A>T
c.538A>T
c.665A>T (p.Asn222Ile)
c.602A>T (p.Asn201Ile)
n.812A>T
c.494A>T (p.Asn165Ile)
n.556A>T
19g.17283301C>ACA404744718ANKLE1c.537C>A (p.Asn179Lys)
n.754C>A
c.504C>A (p.Asn168Lys)
c.699C>A (p.Asn233Lys)
c.*436C>A (n.*436C>A)
n.650C>A
c.539C>A
c.666C>A (p.Asn222Lys)
c.603C>A (p.Asn201Lys)
n.813C>A
c.495C>A (p.Asn165Lys)
n.557C>A
 dbSNP gnomAD v3 gnomAD v4
19g.17283301C>GCA404744719ANKLE1c.537C>G (p.Asn179Lys)
n.754C>G
c.504C>G (p.Asn168Lys)
c.699C>G (p.Asn233Lys)
c.*436C>G (n.*436C>G)
n.650C>G
c.539C>G
c.666C>G (p.Asn222Lys)
c.603C>G (p.Asn201Lys)
n.813C>G
c.495C>G (p.Asn165Lys)
n.557C>G
19g.17283301C>TCA506095561ANKLE1c.537C>T (p.Asn179=)
n.754C>T
c.504C>T (p.Asn168=)
c.699C>T (p.Asn233=)
c.*436C>T (n.*436C>T)
n.650C>T
c.539C>T
c.666C>T (p.Asn222=)
c.603C>T (p.Asn201=)
n.813C>T
c.495C>T (p.Asn165=)
n.557C>T
19g.17283302A>CCA506095562ANKLE1c.538A>C (p.Arg180=)
n.755A>C
c.505A>C (p.Arg169=)
c.700A>C (p.Arg234=)
c.*437A>C (n.*437A>C)
n.651A>C
c.540A>C
c.667A>C (p.Arg223=)
c.604A>C (p.Arg202=)
n.814A>C
c.496A>C (p.Arg166=)
n.558A>C
19g.17283302A>GCA404744720ANKLE1c.538A>G (p.Arg180Gly)
n.755A>G
c.505A>G (p.Arg169Gly)
c.700A>G (p.Arg234Gly)
c.*437A>G (n.*437A>G)
n.651A>G
c.540A>G
c.667A>G (p.Arg223Gly)
c.604A>G (p.Arg202Gly)
n.814A>G
c.496A>G (p.Arg166Gly)
n.558A>G
19g.17283302A>TCA404744721ANKLE1c.538A>T (p.Arg180Trp)
n.755A>T
c.505A>T (p.Arg169Trp)
c.700A>T (p.Arg234Trp)
c.*437A>T (n.*437A>T)
n.651A>T
c.540A>T
c.667A>T (p.Arg223Trp)
c.604A>T (p.Arg202Trp)
n.814A>T
c.496A>T (p.Arg166Trp)
n.558A>T
19g.17283303G>ACA404744722ANKLE1c.539G>A (p.Arg180Lys)
n.756G>A
c.506G>A (p.Arg169Lys)
c.701G>A (p.Arg234Lys)
c.*438G>A (n.*438G>A)
n.652G>A
c.541G>A
c.668G>A (p.Arg223Lys)
c.605G>A (p.Arg202Lys)
n.815G>A
c.497G>A (p.Arg166Lys)
n.559G>A
 dbSNP
19g.17283303G>CCA404744723ANKLE1c.539G>C (p.Arg180Thr)
n.756G>C
c.506G>C (p.Arg169Thr)
c.701G>C (p.Arg234Thr)
c.*438G>C (n.*438G>C)
n.652G>C
c.541G>C
c.668G>C (p.Arg223Thr)
c.605G>C (p.Arg202Thr)
n.815G>C
c.497G>C (p.Arg166Thr)
n.559G>C
19g.17283303G=CA2325780459ANKLE1c.539G= (p.Arg180=)
n.756G=
c.506G= (p.Arg169=)
c.701G= (p.Arg234=)
c.*438G= (n.*438G=)
n.652G=
c.541G=
c.668G= (p.Arg223=)
c.605G= (p.Arg202=)
n.815G=
c.497G= (p.Arg166=)
n.559G=
19g.17283303G>TCA404744724ANKLE1c.539G>T (p.Arg180Met)
n.756G>T
c.506G>T (p.Arg169Met)
c.701G>T (p.Arg234Met)
c.*438G>T (n.*438G>T)
n.652G>T
c.541G>T
c.668G>T (p.Arg223Met)
c.605G>T (p.Arg202Met)
n.815G>T
c.497G>T (p.Arg166Met)
n.559G>T
19g.17283304G>ACA9291128ANKLE1c.540G>A (p.Arg180=)
n.757G>A
c.507G>A (p.Arg169=)
c.702G>A (p.Arg234=)
c.*439G>A (n.*439G>A)
n.653G>A
c.542G>A
c.669G>A (p.Arg223=)
c.606G>A (p.Arg202=)
n.816G>A
c.498G>A (p.Arg166=)
n.560G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.17283304G>CCA404744725ANKLE1c.540G>C (p.Arg180Ser)
n.757G>C
c.507G>C (p.Arg169Ser)
c.702G>C (p.Arg234Ser)
c.*439G>C (n.*439G>C)
n.653G>C
c.542G>C
c.669G>C (p.Arg223Ser)
c.606G>C (p.Arg202Ser)
n.816G>C
c.498G>C (p.Arg166Ser)
n.560G>C
19g.17283304G=CA2325780460ANKLE1c.540G= (p.Arg180=)
n.757G=
c.507G= (p.Arg169=)
c.702G= (p.Arg234=)
c.*439G= (n.*439G=)
n.653G=
c.542G=
c.669G= (p.Arg223=)
c.606G= (p.Arg202=)
n.816G=
c.498G= (p.Arg166=)
n.560G=
19g.17283304G>TCA404744726ANKLE1c.540G>T (p.Arg180Ser)
n.757G>T
c.507G>T (p.Arg169Ser)
c.702G>T (p.Arg234Ser)
c.*439G>T (n.*439G>T)
n.653G>T
c.542G>T
c.669G>T (p.Arg223Ser)
c.606G>T (p.Arg202Ser)
n.816G>T
c.498G>T (p.Arg166Ser)
n.560G>T
19g.17283305G>ACA404744727ANKLE1c.541G>A (p.Asp181Asn)
n.758G>A
c.508G>A (p.Asp170Asn)
c.703G>A (p.Asp235Asn)
c.*440G>A (n.*440G>A)
n.654G>A
c.543G>A
c.670G>A (p.Asp224Asn)
c.607G>A (p.Asp203Asn)
n.817G>A
c.499G>A (p.Asp167Asn)
n.561G>A
19g.17283305G>CCA404744728ANKLE1c.541G>C (p.Asp181His)
n.758G>C
c.508G>C (p.Asp170His)
c.703G>C (p.Asp235His)
c.*440G>C (n.*440G>C)
n.654G>C
c.543G>C
c.670G>C (p.Asp224His)
c.607G>C (p.Asp203His)
n.817G>C
c.499G>C (p.Asp167His)
n.561G>C
19g.17283305G>TCA404744729ANKLE1c.541G>T (p.Asp181Tyr)
n.758G>T
c.508G>T (p.Asp170Tyr)
c.703G>T (p.Asp235Tyr)
c.*440G>T (n.*440G>T)
n.654G>T
c.543G>T
c.670G>T (p.Asp224Tyr)
c.607G>T (p.Asp203Tyr)
n.817G>T
c.499G>T (p.Asp167Tyr)
n.561G>T
19g.17283306A>CCA404744730ANKLE1c.542A>C (p.Asp181Ala)
n.759A>C
c.509A>C (p.Asp170Ala)
c.704A>C (p.Asp235Ala)
c.*441A>C (n.*441A>C)
n.655A>C
c.544A>C
c.671A>C (p.Asp224Ala)
c.608A>C (p.Asp203Ala)
n.818A>C
c.500A>C (p.Asp167Ala)
n.562A>C
19g.17283306A>GCA404744731ANKLE1c.542A>G (p.Asp181Gly)
n.759A>G
c.509A>G (p.Asp170Gly)
c.704A>G (p.Asp235Gly)
c.*441A>G (n.*441A>G)
n.655A>G
c.544A>G
c.671A>G (p.Asp224Gly)
c.608A>G (p.Asp203Gly)
n.818A>G
c.500A>G (p.Asp167Gly)
n.562A>G
19g.17283306A>TCA404744732ANKLE1c.542A>T (p.Asp181Val)
n.759A>T
c.509A>T (p.Asp170Val)
c.704A>T (p.Asp235Val)
c.*441A>T (n.*441A>T)
n.655A>T
c.544A>T
c.671A>T (p.Asp224Val)
c.608A>T (p.Asp203Val)
n.818A>T
c.500A>T (p.Asp167Val)
n.562A>T
19g.17283307C>ACA404744733ANKLE1c.543C>A (p.Asp181Glu)
n.760C>A
c.510C>A (p.Asp170Glu)
c.705C>A (p.Asp235Glu)
c.*442C>A (n.*442C>A)
n.656C>A
c.545C>A
c.672C>A (p.Asp224Glu)
c.609C>A (p.Asp203Glu)
n.819C>A
c.501C>A (p.Asp167Glu)
n.563C>A
19g.17283307C>GCA404744734ANKLE1c.543C>G (p.Asp181Glu)
n.760C>G
c.510C>G (p.Asp170Glu)
c.705C>G (p.Asp235Glu)
c.*442C>G (n.*442C>G)
n.656C>G
c.545C>G
c.672C>G (p.Asp224Glu)
c.609C>G (p.Asp203Glu)
n.819C>G
c.501C>G (p.Asp167Glu)
n.563C>G
19g.17283307C>TCA506095563ANKLE1c.543C>T (p.Asp181=)
n.760C>T
c.510C>T (p.Asp170=)
c.705C>T (p.Asp235=)
c.*442C>T (n.*442C>T)
n.656C>T
c.545C>T
c.672C>T (p.Asp224=)
c.609C>T (p.Asp203=)
n.819C>T
c.501C>T (p.Asp167=)
n.563C>T
19g.17283308A>CCA404744735ANKLE1c.544A>C (p.Ile182Leu)
n.761A>C
c.511A>C (p.Ile171Leu)
c.706A>C (p.Ile236Leu)
c.*443A>C (n.*443A>C)
n.657A>C
c.546A>C
c.673A>C (p.Ile225Leu)
c.610A>C (p.Ile204Leu)
n.820A>C
c.502A>C (p.Ile168Leu)
n.564A>C
19g.17283308A>GCA404744737ANKLE1c.544A>G (p.Ile182Val)
n.761A>G
c.511A>G (p.Ile171Val)
c.706A>G (p.Ile236Val)
c.*443A>G (n.*443A>G)
n.657A>G
c.546A>G
c.673A>G (p.Ile225Val)
c.610A>G (p.Ile204Val)
n.820A>G
c.502A>G (p.Ile168Val)
n.564A>G
19g.17283308A>TCA404744736ANKLE1c.544A>T (p.Ile182Phe)
n.761A>T
c.511A>T (p.Ile171Phe)
c.706A>T (p.Ile236Phe)
c.*443A>T (n.*443A>T)
n.657A>T
c.546A>T
c.673A>T (p.Ile225Phe)
c.610A>T (p.Ile204Phe)
n.820A>T
c.502A>T (p.Ile168Phe)
n.564A>T
19g.17283309T>ACA404744738ANKLE1c.545T>A (p.Ile182Asn)
n.762T>A
c.512T>A (p.Ile171Asn)
c.707T>A (p.Ile236Asn)
c.*444T>A (n.*444T>A)
n.658T>A
c.547T>A
c.674T>A (p.Ile225Asn)
c.611T>A (p.Ile204Asn)
n.821T>A
c.503T>A (p.Ile168Asn)
n.565T>A
19g.17283309T>CCA9291129ANKLE1c.545T>C (p.Ile182Thr)
n.762T>C
c.512T>C (p.Ile171Thr)
c.707T>C (p.Ile236Thr)
c.*444T>C (n.*444T>C)
n.658T>C
c.547T>C
c.674T>C (p.Ile225Thr)
c.611T>C (p.Ile204Thr)
n.821T>C
c.503T>C (p.Ile168Thr)
n.565T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.17283309T>GCA404744739ANKLE1c.545T>G (p.Ile182Ser)
n.762T>G
c.512T>G (p.Ile171Ser)
c.707T>G (p.Ile236Ser)
c.*444T>G (n.*444T>G)
n.658T>G
c.547T>G
c.674T>G (p.Ile225Ser)
c.611T>G (p.Ile204Ser)
n.821T>G
c.503T>G (p.Ile168Ser)
n.565T>G
19g.17283309T=CA2325780461ANKLE1c.545T= (p.Ile182=)
n.762T=
c.512T= (p.Ile171=)
c.707T= (p.Ile236=)
c.*444T= (n.*444T=)
n.658T=
c.547T=
c.674T= (p.Ile225=)
c.611T= (p.Ile204=)
n.821T=
c.503T= (p.Ile168=)
n.565T=
19g.17283310T>ACA506095567ANKLE1c.546T>A (p.Ile182=)
n.763T>A
c.513T>A (p.Ile171=)
c.708T>A (p.Ile236=)
c.*445T>A (n.*445T>A)
n.659T>A
c.548T>A
c.675T>A (p.Ile225=)
c.612T>A (p.Ile204=)
n.822T>A
c.504T>A (p.Ile168=)
n.566T>A
19g.17283310T>CCA506095568ANKLE1c.546T>C (p.Ile182=)
n.763T>C
c.513T>C (p.Ile171=)
c.708T>C (p.Ile236=)
c.*445T>C (n.*445T>C)
n.659T>C
c.548T>C
c.675T>C (p.Ile225=)
c.612T>C (p.Ile204=)
n.822T>C
c.504T>C (p.Ile168=)
n.566T>C
19g.17283310T>GCA404744740ANKLE1c.546T>G (p.Ile182Met)
n.763T>G
c.513T>G (p.Ile171Met)
c.708T>G (p.Ile236Met)
c.*445T>G (n.*445T>G)
n.659T>G
c.548T>G
c.675T>G (p.Ile225Met)
c.612T>G (p.Ile204Met)
n.822T>G
c.504T>G (p.Ile168Met)
n.566T>G
19g.17283311G>ACA404744743ANKLE1c.547G>A (p.Gly183Ser)
n.764G>A
c.514G>A (p.Gly172Ser)
c.709G>A (p.Gly237Ser)
c.*446G>A (n.*446G>A)
n.660G>A
c.549G>A
c.676G>A (p.Gly226Ser)
c.613G>A (p.Gly205Ser)
n.823G>A
c.505G>A (p.Gly169Ser)
n.567G>A
 dbSNP gnomAD v4
19g.17283311G>CCA404744741ANKLE1c.547G>C (p.Gly183Arg)
n.764G>C
c.514G>C (p.Gly172Arg)
c.709G>C (p.Gly237Arg)
c.*446G>C (n.*446G>C)
n.660G>C
c.549G>C
c.676G>C (p.Gly226Arg)
c.613G>C (p.Gly205Arg)
n.823G>C
c.505G>C (p.Gly169Arg)
n.567G>C
19g.17283311G=CA2325780462ANKLE1c.547G= (p.Gly183=)
n.764G=
c.514G= (p.Gly172=)
c.709G= (p.Gly237=)
c.*446G= (n.*446G=)
n.660G=
c.549G=
c.676G= (p.Gly226=)
c.613G= (p.Gly205=)
n.823G=
c.505G= (p.Gly169=)
n.567G=
19g.17283311G>TCA404744742ANKLE1c.547G>T (p.Gly183Cys)
n.764G>T
c.514G>T (p.Gly172Cys)
c.709G>T (p.Gly237Cys)
c.*446G>T (n.*446G>T)
n.660G>T
c.549G>T
c.676G>T (p.Gly226Cys)
c.613G>T (p.Gly205Cys)
n.823G>T
c.505G>T (p.Gly169Cys)
n.567G>T
19g.17283312G>ACA404744744ANKLE1c.548G>A (p.Gly183Asp)
n.765G>A
c.515G>A (p.Gly172Asp)
c.710G>A (p.Gly237Asp)
c.*447G>A (n.*447G>A)
n.661G>A
c.550G>A
c.677G>A (p.Gly226Asp)
c.614G>A (p.Gly205Asp)
n.824G>A
c.506G>A (p.Gly169Asp)
n.568G>A
19g.17283312G>CCA404744745ANKLE1c.548G>C (p.Gly183Ala)
n.765G>C
c.515G>C (p.Gly172Ala)
c.710G>C (p.Gly237Ala)
c.*447G>C (n.*447G>C)
n.661G>C
c.550G>C
c.677G>C (p.Gly226Ala)
c.614G>C (p.Gly205Ala)
n.824G>C
c.506G>C (p.Gly169Ala)
n.568G>C
19g.17283312G=CA2325780463ANKLE1c.548G= (p.Gly183=)
n.765G=
c.515G= (p.Gly172=)
c.710G= (p.Gly237=)
c.*447G= (n.*447G=)
n.661G=
c.550G=
c.677G= (p.Gly226=)
c.614G= (p.Gly205=)
n.824G=
c.506G= (p.Gly169=)
n.568G=
19g.17283312G>TCA404744746ANKLE1c.548G>T (p.Gly183Val)
n.765G>T
c.515G>T (p.Gly172Val)
c.710G>T (p.Gly237Val)
c.*447G>T (n.*447G>T)
n.661G>T
c.550G>T
c.677G>T (p.Gly226Val)
c.614G>T (p.Gly205Val)
n.824G>T
c.506G>T (p.Gly169Val)
n.568G>T
 dbSNP gnomAD v3 gnomAD v4
19g.17283313C>ACA506095571ANKLE1c.549C>A (p.Gly183=)
n.766C>A
c.516C>A (p.Gly172=)
c.711C>A (p.Gly237=)
c.*448C>A (n.*448C>A)
n.662C>A
c.551C>A
c.678C>A (p.Gly226=)
c.615C>A (p.Gly205=)
n.825C>A
c.507C>A (p.Gly169=)
n.569C>A
19g.17283313C=CA2325780464ANKLE1c.549C= (p.Gly183=)
n.766C=
c.516C= (p.Gly172=)
c.711C= (p.Gly237=)
c.*448C= (n.*448C=)
n.662C=
c.551C=
c.678C= (p.Gly226=)
c.615C= (p.Gly205=)
n.825C=
c.507C= (p.Gly169=)
n.569C=
19g.17283313C>GCA506095572ANKLE1c.549C>G (p.Gly183=)
n.766C>G
c.516C>G (p.Gly172=)
c.711C>G (p.Gly237=)
c.*448C>G (n.*448C>G)
n.662C>G
c.551C>G
c.678C>G (p.Gly226=)
c.615C>G (p.Gly205=)
n.825C>G
c.507C>G (p.Gly169=)
n.569C>G
19g.17283313C>TCA506095573ANKLE1c.549C>T (p.Gly183=)
n.766C>T
c.516C>T (p.Gly172=)
c.711C>T (p.Gly237=)
c.*448C>T (n.*448C>T)
n.662C>T
c.551C>T
c.678C>T (p.Gly226=)
c.615C>T (p.Gly205=)
n.825C>T
c.507C>T (p.Gly169=)
n.569C>T
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
19g.17283314T>ACA404744747ANKLE1c.550T>A (p.Leu184Met)
n.767T>A
c.517T>A (p.Leu173Met)
c.712T>A (p.Leu238Met)
c.*449T>A (n.*449T>A)
n.663T>A
c.552T>A
c.679T>A (p.Leu227Met)
c.616T>A (p.Leu206Met)
n.826T>A
c.508T>A (p.Leu170Met)
n.570T>A
19g.17283314T>CCA506095574ANKLE1c.550T>C (p.Leu184=)
n.767T>C
c.517T>C (p.Leu173=)
c.712T>C (p.Leu238=)
c.*449T>C (n.*449T>C)
n.663T>C
c.552T>C
c.679T>C (p.Leu227=)
c.616T>C (p.Leu206=)
n.826T>C
c.508T>C (p.Leu170=)
n.570T>C
 gnomAD v4
19g.17283314T>GCA404744748ANKLE1c.550T>G (p.Leu184Val)
n.767T>G
c.517T>G (p.Leu173Val)
c.712T>G (p.Leu238Val)
c.*449T>G (n.*449T>G)
n.663T>G
c.552T>G
c.679T>G (p.Leu227Val)
c.616T>G (p.Leu206Val)
n.826T>G
c.508T>G (p.Leu170Val)
n.570T>G
19g.17283315dupCA645613363ANKLE1c.551dup (p.Leu184PhefsTer4)
n.768dup
c.518dup (p.Leu173PhefsTer4)
c.713dup (p.Leu238PhefsTer4)
c.*450dup (n.*450dup)
n.664dup
c.553dup
c.680dup (p.Leu227PhefsTer4)
c.617dup (p.Leu206PhefsTer4)
n.827dup
c.509dup (p.Leu170PhefsTer4)
n.571dup
 COSMIC COSMIC
19g.17283314_17283315insGCA2583322992ANKLE1c.550_551insG (p.Leu184CysfsTer4)
n.767_768insG
c.517_518insG (p.Leu173CysfsTer4)
c.712_713insG (p.Leu238CysfsTer4)
c.*449_*450insG (n.*449_*450insG)
n.663_664insG
c.552_553insG
c.679_680insG (p.Leu227CysfsTer4)
c.616_617insG (p.Leu206CysfsTer4)
n.826_827insG
c.508_509insG (p.Leu170CysfsTer4)
n.570_571insG
 gnomAD v4
19g.17283315T>ACA404744749ANKLE1c.551T>A (p.Leu184Ter)
n.768T>A
c.518T>A (p.Leu173Ter)
c.713T>A (p.Leu238Ter)
c.*450T>A (n.*450T>A)
n.664T>A
c.553T>A
c.680T>A (p.Leu227Ter)
c.617T>A (p.Leu206Ter)
n.827T>A
c.509T>A (p.Leu170Ter)
n.571T>A
19g.17283315T>CCA404744750ANKLE1c.551T>C (p.Leu184Ser)
n.768T>C
c.518T>C (p.Leu173Ser)
c.713T>C (p.Leu238Ser)
c.*450T>C (n.*450T>C)
n.664T>C
c.553T>C
c.680T>C (p.Leu227Ser)
c.617T>C (p.Leu206Ser)
n.827T>C
c.509T>C (p.Leu170Ser)
n.571T>C
19g.17283315T>GCA9291130ANKLE1c.551T>G (p.Leu184Trp)
n.768T>G
c.518T>G (p.Leu173Trp)
c.713T>G (p.Leu238Trp)
c.*450T>G (n.*450T>G)
n.664T>G
c.553T>G
c.680T>G (p.Leu227Trp)
c.617T>G (p.Leu206Trp)
n.827T>G
c.509T>G (p.Leu170Trp)
n.571T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.17283315T=CA2325780465ANKLE1c.551T= (p.Leu184=)
n.768T=
c.518T= (p.Leu173=)
c.713T= (p.Leu238=)
c.*450T= (n.*450T=)
n.664T=
c.553T=
c.680T= (p.Leu227=)
c.617T= (p.Leu206=)
n.827T=
c.509T= (p.Leu170=)
n.571T=
19g.17283316G>ACA506095578ANKLE1c.552G>A (p.Leu184=)
n.769G>A
c.519G>A (p.Leu173=)
c.714G>A (p.Leu238=)
c.*451G>A (n.*451G>A)
n.665G>A
c.554G>A
c.681G>A (p.Leu227=)
c.618G>A (p.Leu206=)
n.828G>A
c.510G>A (p.Leu170=)
n.572G>A
19g.17283316G>CCA404744751ANKLE1c.552G>C (p.Leu184Phe)
n.769G>C
c.519G>C (p.Leu173Phe)
c.714G>C (p.Leu238Phe)
c.*451G>C (n.*451G>C)
n.665G>C
c.554G>C
c.681G>C (p.Leu227Phe)
c.618G>C (p.Leu206Phe)
n.828G>C
c.510G>C (p.Leu170Phe)
n.572G>C
19g.17283316G=CA2325780466ANKLE1c.552G= (p.Leu184=)
n.769G=
c.519G= (p.Leu173=)
c.714G= (p.Leu238=)
c.*451G= (n.*451G=)
n.665G=
c.554G=
c.681G= (p.Leu227=)
c.618G= (p.Leu206=)
n.828G=
c.510G= (p.Leu170=)
n.572G=
19g.17283316G>TCA9291131ANKLE1c.552G>T (p.Leu184Phe)
n.769G>T
c.519G>T (p.Leu173Phe)
c.714G>T (p.Leu238Phe)
c.*451G>T (n.*451G>T)
n.665G>T
c.554G>T
c.681G>T (p.Leu227Phe)
c.618G>T (p.Leu206Phe)
n.828G>T
c.510G>T (p.Leu170Phe)
n.572G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.17283317G>ACA404744752ANKLE1c.553G>A (p.Glu185Lys)
n.770G>A
c.520G>A (p.Glu174Lys)
c.715G>A (p.Glu239Lys)
c.*452G>A (n.*452G>A)
n.666G>A
c.555G>A
c.682G>A (p.Glu228Lys)
c.619G>A (p.Glu207Lys)
n.829G>A
c.511G>A (p.Glu171Lys)
n.573G>A
 dbSNP
19g.17283317G>CCA404744753ANKLE1c.553G>C (p.Glu185Gln)
n.770G>C
c.520G>C (p.Glu174Gln)
c.715G>C (p.Glu239Gln)
c.*452G>C (n.*452G>C)
n.666G>C
c.555G>C
c.682G>C (p.Glu228Gln)
c.619G>C (p.Glu207Gln)
n.829G>C
c.511G>C (p.Glu171Gln)
n.573G>C
19g.17283317G=CA2325780467ANKLE1c.553G= (p.Glu185=)
n.770G=
c.520G= (p.Glu174=)
c.715G= (p.Glu239=)
c.*452G= (n.*452G=)
n.666G=
c.555G=
c.682G= (p.Glu228=)
c.619G= (p.Glu207=)
n.829G=
c.511G= (p.Glu171=)
n.573G=
19g.17283317G>TCA404744754ANKLE1c.553G>T (p.Glu185Ter)
n.770G>T
c.520G>T (p.Glu174Ter)
c.715G>T (p.Glu239Ter)
c.*452G>T (n.*452G>T)
n.666G>T
c.555G>T
c.682G>T (p.Glu228Ter)
c.619G>T (p.Glu207Ter)
n.829G>T
c.511G>T (p.Glu171Ter)
n.573G>T

Number of alleles fetched