Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.68885639G>ACA376881954STOX1c.1843G>A (p.Glu615Lys)
c.2179G>A (p.Glu727Lys)
c.463+3529G>A (n.463+3529G>A)
c.663+1180G>A (n.663+1180G>A)
c.1513G>A (p.Glu505Lys)
 dbSNP gnomAD v3 gnomAD v4
10g.68885639G>CCA376881955STOX1c.1843G>C (p.Glu615Gln)
c.2179G>C (p.Glu727Gln)
c.463+3529G>C (n.463+3529G>C)
c.663+1180G>C (n.663+1180G>C)
c.1513G>C (p.Glu505Gln)
10g.68885639G=CA1917550066STOX1c.1843G= (p.Glu615=)
c.2179G= (p.Glu727=)
c.463+3529G= (n.463+3529G=)
c.663+1180G= (n.663+1180G=)
c.1513G= (p.Glu505=)
10g.68885639G>TCA376881956STOX1c.1843G>T (p.Glu615Ter)
c.2179G>T (p.Glu727Ter)
c.463+3529G>T (n.463+3529G>T)
c.663+1180G>T (n.663+1180G>T)
c.1513G>T (p.Glu505Ter)
10g.68885640A>CCA376881959STOX1c.1844A>C (p.Glu615Ala)
c.2180A>C (p.Glu727Ala)
c.463+3530A>C (n.463+3530A>C)
c.663+1181A>C (n.663+1181A>C)
c.1514A>C (p.Glu505Ala)
10g.68885640A>GCA376881958STOX1c.1844A>G (p.Glu615Gly)
c.2180A>G (p.Glu727Gly)
c.463+3530A>G (n.463+3530A>G)
c.663+1181A>G (n.663+1181A>G)
c.1514A>G (p.Glu505Gly)
10g.68885640A>TCA376881957STOX1c.1844A>T (p.Glu615Val)
c.2180A>T (p.Glu727Val)
c.463+3530A>T (n.463+3530A>T)
c.663+1181A>T (n.663+1181A>T)
c.1514A>T (p.Glu505Val)
10g.68885641G>ACA5528237STOX1c.1845G>A (p.Glu615=)
c.2181G>A (p.Glu727=)
c.463+3531G>A (n.463+3531G>A)
c.663+1182G>A (n.663+1182G>A)
c.1515G>A (p.Glu505=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.68885641G>CCA376881960STOX1c.1845G>C (p.Glu615Asp)
c.2181G>C (p.Glu727Asp)
c.463+3531G>C (n.463+3531G>C)
c.663+1182G>C (n.663+1182G>C)
c.1515G>C (p.Glu505Asp)
10g.68885641G=CA1917550067STOX1c.1845G= (p.Glu615=)
c.2181G= (p.Glu727=)
c.463+3531G= (n.463+3531G=)
c.663+1182G= (n.663+1182G=)
c.1515G= (p.Glu505=)
10g.68885641G>TCA376881961STOX1c.1845G>T (p.Glu615Asp)
c.2181G>T (p.Glu727Asp)
c.463+3531G>T (n.463+3531G>T)
c.663+1182G>T (n.663+1182G>T)
c.1515G>T (p.Glu505Asp)
 dbSNP gnomAD v2 gnomAD v4
10g.68885642G>ACA376881962STOX1c.1846G>A (p.Val616Ile)
c.2182G>A (p.Val728Ile)
c.463+3532G>A (n.463+3532G>A)
c.663+1183G>A (n.663+1183G>A)
c.1516G>A (p.Val506Ile)
10g.68885642G>CCA376881963STOX1c.1846G>C (p.Val616Leu)
c.2182G>C (p.Val728Leu)
c.463+3532G>C (n.463+3532G>C)
c.663+1183G>C (n.663+1183G>C)
c.1516G>C (p.Val506Leu)
 dbSNP
10g.68885642G=CA1917550068STOX1c.1846G= (p.Val616=)
c.2182G= (p.Val728=)
c.463+3532G= (n.463+3532G=)
c.663+1183G= (n.663+1183G=)
c.1516G= (p.Val506=)
10g.68885642G>TCA376881964STOX1c.1846G>T (p.Val616Leu)
c.2182G>T (p.Val728Leu)
c.463+3532G>T (n.463+3532G>T)
c.663+1183G>T (n.663+1183G>T)
c.1516G>T (p.Val506Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.68885643T>ACA376881965STOX1c.1847T>A (p.Val616Glu)
c.2183T>A (p.Val728Glu)
c.463+3533T>A (n.463+3533T>A)
c.663+1184T>A (n.663+1184T>A)
c.1517T>A (p.Val506Glu)
10g.68885643T>CCA208268325STOX1c.1847T>C (p.Val616Ala)
c.2183T>C (p.Val728Ala)
c.463+3533T>C (n.463+3533T>C)
c.663+1184T>C (n.663+1184T>C)
c.1517T>C (p.Val506Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.68885643T>GCA376881966STOX1c.1847T>G (p.Val616Gly)
c.2183T>G (p.Val728Gly)
c.463+3533T>G (n.463+3533T>G)
c.663+1184T>G (n.663+1184T>G)
c.1517T>G (p.Val506Gly)
10g.68885643T=CA1917550069STOX1c.1847T= (p.Val616=)
c.2183T= (p.Val728=)
c.463+3533T= (n.463+3533T=)
c.663+1184T= (n.663+1184T=)
c.1517T= (p.Val506=)
10g.68885644A>CCA470274108STOX1c.1848A>C (p.Val616=)
c.2184A>C (p.Val728=)
c.463+3534A>C (n.463+3534A>C)
c.663+1185A>C (n.663+1185A>C)
c.1518A>C (p.Val506=)
10g.68885644A>GCA470274109STOX1c.1848A>G (p.Val616=)
c.2184A>G (p.Val728=)
c.463+3534A>G (n.463+3534A>G)
c.663+1185A>G (n.663+1185A>G)
c.1518A>G (p.Val506=)
10g.68885644A>TCA470274110STOX1c.1848A>T (p.Val616=)
c.2184A>T (p.Val728=)
c.463+3534A>T (n.463+3534A>T)
c.663+1185A>T (n.663+1185A>T)
c.1518A>T (p.Val506=)
10g.68885645A>CCA376881967STOX1c.1849A>C (p.Ile617Leu)
c.2185A>C (p.Ile729Leu)
c.463+3535A>C (n.463+3535A>C)
c.663+1186A>C (n.663+1186A>C)
c.1519A>C (p.Ile507Leu)
10g.68885645A>GCA376881968STOX1c.1849A>G (p.Ile617Val)
c.2185A>G (p.Ile729Val)
c.463+3535A>G (n.463+3535A>G)
c.663+1186A>G (n.663+1186A>G)
c.1519A>G (p.Ile507Val)
10g.68885645A>TCA376881969STOX1c.1849A>T (p.Ile617Phe)
c.2185A>T (p.Ile729Phe)
c.463+3535A>T (n.463+3535A>T)
c.663+1186A>T (n.663+1186A>T)
c.1519A>T (p.Ile507Phe)
10g.68885646T>ACA376881970STOX1c.1850T>A (p.Ile617Asn)
c.2186T>A (p.Ile729Asn)
c.463+3536T>A (n.463+3536T>A)
c.663+1187T>A (n.663+1187T>A)
c.1520T>A (p.Ile507Asn)
10g.68885646T>CCA376881971STOX1c.1850T>C (p.Ile617Thr)
c.2186T>C (p.Ile729Thr)
c.463+3536T>C (n.463+3536T>C)
c.663+1187T>C (n.663+1187T>C)
c.1520T>C (p.Ile507Thr)
 gnomAD v4
10g.68885646T>GCA376881972STOX1c.1850T>G (p.Ile617Ser)
c.2186T>G (p.Ile729Ser)
c.463+3536T>G (n.463+3536T>G)
c.663+1187T>G (n.663+1187T>G)
c.1520T>G (p.Ile507Ser)
10g.68885647T>ACA470274111STOX1c.1851T>A (p.Ile617=)
c.2187T>A (p.Ile729=)
c.463+3537T>A (n.463+3537T>A)
c.663+1188T>A (n.663+1188T>A)
c.1521T>A (p.Ile507=)
10g.68885647T>CCA470274112STOX1c.1851T>C (p.Ile617=)
c.2187T>C (p.Ile729=)
c.463+3537T>C (n.463+3537T>C)
c.663+1188T>C (n.663+1188T>C)
c.1521T>C (p.Ile507=)
10g.68885647T>GCA376881973STOX1c.1851T>G (p.Ile617Met)
c.2187T>G (p.Ile729Met)
c.463+3537T>G (n.463+3537T>G)
c.663+1188T>G (n.663+1188T>G)
c.1521T>G (p.Ile507Met)
10g.68885648C>ACA376881975STOX1c.1852C>A (p.Pro618Thr)
c.2188C>A (p.Pro730Thr)
c.463+3538C>A (n.463+3538C>A)
c.663+1189C>A (n.663+1189C>A)
c.1522C>A (p.Pro508Thr)
10g.68885648C=CA1917550070STOX1c.1852C= (p.Pro618=)
c.2188C= (p.Pro730=)
c.463+3538C= (n.463+3538C=)
c.663+1189C= (n.663+1189C=)
c.1522C= (p.Pro508=)
10g.68885648C>GCA376881974STOX1c.1852C>G (p.Pro618Ala)
c.2188C>G (p.Pro730Ala)
c.463+3538C>G (n.463+3538C>G)
c.663+1189C>G (n.663+1189C>G)
c.1522C>G (p.Pro508Ala)
10g.68885648C>TCA208268328STOX1c.1852C>T (p.Pro618Ser)
c.2188C>T (p.Pro730Ser)
c.463+3538C>T (n.463+3538C>T)
c.663+1189C>T (n.663+1189C>T)
c.1522C>T (p.Pro508Ser)
 ClinVar dbSNP
10g.68885649C>ACA376881976STOX1c.1853C>A (p.Pro618His)
c.2189C>A (p.Pro730His)
c.463+3539C>A (n.463+3539C>A)
c.663+1190C>A (n.663+1190C>A)
c.1523C>A (p.Pro508His)
10g.68885649C>GCA376881977STOX1c.1853C>G (p.Pro618Arg)
c.2189C>G (p.Pro730Arg)
c.463+3539C>G (n.463+3539C>G)
c.663+1190C>G (n.663+1190C>G)
c.1523C>G (p.Pro508Arg)
10g.68885649C>TCA376881978STOX1c.1853C>T (p.Pro618Leu)
c.2189C>T (p.Pro730Leu)
c.463+3539C>T (n.463+3539C>T)
c.663+1190C>T (n.663+1190C>T)
c.1523C>T (p.Pro508Leu)
10g.68885650T>ACA470274113STOX1c.1854T>A (p.Pro618=)
c.2190T>A (p.Pro730=)
c.463+3540T>A (n.463+3540T>A)
c.663+1191T>A (n.663+1191T>A)
c.1524T>A (p.Pro508=)
10g.68885650T>CCA470274114STOX1c.1854T>C (p.Pro618=)
c.2190T>C (p.Pro730=)
c.463+3540T>C (n.463+3540T>C)
c.663+1191T>C (n.663+1191T>C)
c.1524T>C (p.Pro508=)
10g.68885650T>GCA470274115STOX1c.1854T>G (p.Pro618=)
c.2190T>G (p.Pro730=)
c.463+3540T>G (n.463+3540T>G)
c.663+1191T>G (n.663+1191T>G)
c.1524T>G (p.Pro508=)
10g.68885651G>ACA376881979STOX1c.1855G>A (p.Glu619Lys)
c.2191G>A (p.Glu731Lys)
c.463+3541G>A (n.463+3541G>A)
c.663+1192G>A (n.663+1192G>A)
c.1525G>A (p.Glu509Lys)
10g.68885651G>CCA376881980STOX1c.1855G>C (p.Glu619Gln)
c.2191G>C (p.Glu731Gln)
c.463+3541G>C (n.463+3541G>C)
c.663+1192G>C (n.663+1192G>C)
c.1525G>C (p.Glu509Gln)
10g.68885651G>TCA376881981STOX1c.1855G>T (p.Glu619Ter)
c.2191G>T (p.Glu731Ter)
c.463+3541G>T (n.463+3541G>T)
c.663+1192G>T (n.663+1192G>T)
c.1525G>T (p.Glu509Ter)
10g.68885652A>CCA376881982STOX1c.1856A>C (p.Glu619Ala)
c.2192A>C (p.Glu731Ala)
c.463+3542A>C (n.463+3542A>C)
c.663+1193A>C (n.663+1193A>C)
c.1526A>C (p.Glu509Ala)
10g.68885652A>GCA376881983STOX1c.1856A>G (p.Glu619Gly)
c.2192A>G (p.Glu731Gly)
c.463+3542A>G (n.463+3542A>G)
c.663+1193A>G (n.663+1193A>G)
c.1526A>G (p.Glu509Gly)
10g.68885652A>TCA376881984STOX1c.1856A>T (p.Glu619Val)
c.2192A>T (p.Glu731Val)
c.463+3542A>T (n.463+3542A>T)
c.663+1193A>T (n.663+1193A>T)
c.1526A>T (p.Glu509Val)
10g.68885653A>CCA376881985STOX1c.1857A>C (p.Glu619Asp)
c.2193A>C (p.Glu731Asp)
c.463+3543A>C (n.463+3543A>C)
c.663+1194A>C (n.663+1194A>C)
c.1527A>C (p.Glu509Asp)
10g.68885653A>GCA470274116STOX1c.1857A>G (p.Glu619=)
c.2193A>G (p.Glu731=)
c.463+3543A>G (n.463+3543A>G)
c.663+1194A>G (n.663+1194A>G)
c.1527A>G (p.Glu509=)
10g.68885653A>TCA376881986STOX1c.1857A>T (p.Glu619Asp)
c.2193A>T (p.Glu731Asp)
c.463+3543A>T (n.463+3543A>T)
c.663+1194A>T (n.663+1194A>T)
c.1527A>T (p.Glu509Asp)
10g.68885654G>ACA376881989STOX1c.1858G>A (p.Val620Ile)
c.2194G>A (p.Val732Ile)
c.463+3544G>A (n.463+3544G>A)
c.663+1195G>A (n.663+1195G>A)
c.1528G>A (p.Val510Ile)
10g.68885654G>CCA376881988STOX1c.1858G>C (p.Val620Leu)
c.2194G>C (p.Val732Leu)
c.463+3544G>C (n.463+3544G>C)
c.663+1195G>C (n.663+1195G>C)
c.1528G>C (p.Val510Leu)
10g.68885654G>TCA376881987STOX1c.1858G>T (p.Val620Phe)
c.2194G>T (p.Val732Phe)
c.463+3544G>T (n.463+3544G>T)
c.663+1195G>T (n.663+1195G>T)
c.1528G>T (p.Val510Phe)
10g.68885655T>ACA376881990STOX1c.1859T>A (p.Val620Asp)
c.2195T>A (p.Val732Asp)
c.463+3545T>A (n.463+3545T>A)
c.663+1196T>A (n.663+1196T>A)
c.1529T>A (p.Val510Asp)
10g.68885655T>CCA376881991STOX1c.1859T>C (p.Val620Ala)
c.2195T>C (p.Val732Ala)
c.463+3545T>C (n.463+3545T>C)
c.663+1196T>C (n.663+1196T>C)
c.1529T>C (p.Val510Ala)
10g.68885655T>GCA376881992STOX1c.1859T>G (p.Val620Gly)
c.2195T>G (p.Val732Gly)
c.463+3545T>G (n.463+3545T>G)
c.663+1196T>G (n.663+1196T>G)
c.1529T>G (p.Val510Gly)
10g.68885655T=CA1917550071STOX1c.1859T= (p.Val620=)
c.2195T= (p.Val732=)
c.463+3545T= (n.463+3545T=)
c.663+1196T= (n.663+1196T=)
c.1529T= (p.Val510=)
10g.68885656C>ACA470274117STOX1c.1860C>A (p.Val620=)
c.2196C>A (p.Val732=)
c.463+3546C>A (n.463+3546C>A)
c.663+1197C>A (n.663+1197C>A)
c.1530C>A (p.Val510=)
10g.68885656C>GCA470274118STOX1c.1860C>G (p.Val620=)
c.2196C>G (p.Val732=)
c.463+3546C>G (n.463+3546C>G)
c.663+1197C>G (n.663+1197C>G)
c.1530C>G (p.Val510=)
10g.68885656C>TCA470274119STOX1c.1860C>T (p.Val620=)
c.2196C>T (p.Val732=)
c.463+3546C>T (n.463+3546C>T)
c.663+1197C>T (n.663+1197C>T)
c.1530C>T (p.Val510=)
10g.68885656dupCA5528238STOX1c.1860dup (p.Arg622GlufsTer8)
c.2196dup (p.Arg734GlufsTer8)
c.463+3546dup (n.463+3546dup)
c.663+1197dup (n.663+1197dup)
c.1530dup (p.Arg512GlufsTer8)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.68885657T>ACA376881993STOX1c.1861T>A (p.Leu621Met)
c.2197T>A (p.Leu733Met)
c.463+3547T>A (n.463+3547T>A)
c.663+1198T>A (n.663+1198T>A)
c.1531T>A (p.Leu511Met)
10g.68885657T>CCA470274120STOX1c.1861T>C (p.Leu621=)
c.2197T>C (p.Leu733=)
c.463+3547T>C (n.463+3547T>C)
c.663+1198T>C (n.663+1198T>C)
c.1531T>C (p.Leu511=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
10g.68885657T>GCA376881994STOX1c.1861T>G (p.Leu621Val)
c.2197T>G (p.Leu733Val)
c.463+3547T>G (n.463+3547T>G)
c.663+1198T>G (n.663+1198T>G)
c.1531T>G (p.Leu511Val)
 gnomAD v4
10g.68885657T=CA1917550072STOX1c.1861T= (p.Leu621=)
c.2197T= (p.Leu733=)
c.463+3547T= (n.463+3547T=)
c.663+1198T= (n.663+1198T=)
c.1531T= (p.Leu511=)
10g.68885658T>ACA376881995STOX1c.1862T>A (p.Leu621Ter)
c.2198T>A (p.Leu733Ter)
c.463+3548T>A (n.463+3548T>A)
c.663+1199T>A (n.663+1199T>A)
c.1532T>A (p.Leu511Ter)
10g.68885658T>CCA376881996STOX1c.1862T>C (p.Leu621Ser)
c.2198T>C (p.Leu733Ser)
c.463+3548T>C (n.463+3548T>C)
c.663+1199T>C (n.663+1199T>C)
c.1532T>C (p.Leu511Ser)
10g.68885658T>GCA376881997STOX1c.1862T>G (p.Leu621Trp)
c.2198T>G (p.Leu733Trp)
c.463+3548T>G (n.463+3548T>G)
c.663+1199T>G (n.663+1199T>G)
c.1532T>G (p.Leu511Trp)
10g.68885659G>ACA470274121STOX1c.1863G>A (p.Leu621=)
c.2199G>A (p.Leu733=)
c.463+3549G>A (n.463+3549G>A)
c.663+1200G>A (n.663+1200G>A)
c.1533G>A (p.Leu511=)
 gnomAD v4
10g.68885659G>CCA5528239STOX1c.1863G>C (p.Leu621Phe)
c.2199G>C (p.Leu733Phe)
c.463+3549G>C (n.463+3549G>C)
c.663+1200G>C (n.663+1200G>C)
c.1533G>C (p.Leu511Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.68885659G=CA1917550073STOX1c.1863G= (p.Leu621=)
c.2199G= (p.Leu733=)
c.463+3549G= (n.463+3549G=)
c.663+1200G= (n.663+1200G=)
c.1533G= (p.Leu511=)
10g.68885659G>TCA376881998STOX1c.1863G>T (p.Leu621Phe)
c.2199G>T (p.Leu733Phe)
c.463+3549G>T (n.463+3549G>T)
c.663+1200G>T (n.663+1200G>T)
c.1533G>T (p.Leu511Phe)
10g.68885660A>CCA470274122STOX1c.1864A>C (p.Arg622=)
c.2200A>C (p.Arg734=)
c.463+3550A>C (n.463+3550A>C)
c.663+1201A>C (n.663+1201A>C)
c.1534A>C (p.Arg512=)
10g.68885660A>GCA376881999STOX1c.1864A>G (p.Arg622Gly)
c.2200A>G (p.Arg734Gly)
c.463+3550A>G (n.463+3550A>G)
c.663+1201A>G (n.663+1201A>G)
c.1534A>G (p.Arg512Gly)
10g.68885660A>TCA376882000STOX1c.1864A>T (p.Arg622Trp)
c.2200A>T (p.Arg734Trp)
c.463+3550A>T (n.463+3550A>T)
c.663+1201A>T (n.663+1201A>T)
c.1534A>T (p.Arg512Trp)
10g.68885661G>ACA376882003STOX1c.1865G>A (p.Arg622Lys)
c.2201G>A (p.Arg734Lys)
c.463+3551G>A (n.463+3551G>A)
c.663+1202G>A (n.663+1202G>A)
c.1535G>A (p.Arg512Lys)
10g.68885661G>CCA376882001STOX1c.1865G>C (p.Arg622Thr)
c.2201G>C (p.Arg734Thr)
c.463+3551G>C (n.463+3551G>C)
c.663+1202G>C (n.663+1202G>C)
c.1535G>C (p.Arg512Thr)
10g.68885661G>TCA376882002STOX1c.1865G>T (p.Arg622Met)
c.2201G>T (p.Arg734Met)
c.463+3551G>T (n.463+3551G>T)
c.663+1202G>T (n.663+1202G>T)
c.1535G>T (p.Arg512Met)
10g.68885662G>ACA470274123STOX1c.1866G>A (p.Arg622=)
c.2202G>A (p.Arg734=)
c.463+3552G>A (n.463+3552G>A)
c.663+1203G>A (n.663+1203G>A)
c.1536G>A (p.Arg512=)
10g.68885662G>CCA376882004STOX1c.1866G>C (p.Arg622Ser)
c.2202G>C (p.Arg734Ser)
c.463+3552G>C (n.463+3552G>C)
c.663+1203G>C (n.663+1203G>C)
c.1536G>C (p.Arg512Ser)
10g.68885662G>TCA376882005STOX1c.1866G>T (p.Arg622Ser)
c.2202G>T (p.Arg734Ser)
c.463+3552G>T (n.463+3552G>T)
c.663+1203G>T (n.663+1203G>T)
c.1536G>T (p.Arg512Ser)
10g.68885663A>CCA376882006STOX1c.1867A>C (p.Lys623Gln)
c.2203A>C (p.Lys735Gln)
c.463+3553A>C (n.463+3553A>C)
c.663+1204A>C (n.663+1204A>C)
c.1537A>C (p.Lys513Gln)
10g.68885663A>GCA376882007STOX1c.1867A>G (p.Lys623Glu)
c.2203A>G (p.Lys735Glu)
c.463+3553A>G (n.463+3553A>G)
c.663+1204A>G (n.663+1204A>G)
c.1537A>G (p.Lys513Glu)
10g.68885663A>TCA376882008STOX1c.1867A>T (p.Lys623Ter)
c.2203A>T (p.Lys735Ter)
c.463+3553A>T (n.463+3553A>T)
c.663+1204A>T (n.663+1204A>T)
c.1537A>T (p.Lys513Ter)
10g.68885664A>CCA376882009STOX1c.1868A>C (p.Lys623Thr)
c.2204A>C (p.Lys735Thr)
c.463+3554A>C (n.463+3554A>C)
c.663+1205A>C (n.663+1205A>C)
c.1538A>C (p.Lys513Thr)
 gnomAD v4
10g.68885664A>GCA376882010STOX1c.1868A>G (p.Lys623Arg)
c.2204A>G (p.Lys735Arg)
c.463+3554A>G (n.463+3554A>G)
c.663+1205A>G (n.663+1205A>G)
c.1538A>G (p.Lys513Arg)
 gnomAD v4
10g.68885664A>TCA376882011STOX1c.1868A>T (p.Lys623Ile)
c.2204A>T (p.Lys735Ile)
c.463+3554A>T (n.463+3554A>T)
c.663+1205A>T (n.663+1205A>T)
c.1538A>T (p.Lys513Ile)
10g.68885665A>CCA376882012STOX1c.1869A>C (p.Lys623Asn)
c.2205A>C (p.Lys735Asn)
c.463+3555A>C (n.463+3555A>C)
c.663+1206A>C (n.663+1206A>C)
c.1539A>C (p.Lys513Asn)
10g.68885665A>GCA470274124STOX1c.1869A>G (p.Lys623=)
c.2205A>G (p.Lys735=)
c.463+3555A>G (n.463+3555A>G)
c.663+1206A>G (n.663+1206A>G)
c.1539A>G (p.Lys513=)
10g.68885665A>TCA376882013STOX1c.1869A>T (p.Lys623Asn)
c.2205A>T (p.Lys735Asn)
c.463+3555A>T (n.463+3555A>T)
c.663+1206A>T (n.663+1206A>T)
c.1539A>T (p.Lys513Asn)
10g.68885666A>CCA376882014STOX1c.1870A>C (p.Ser624Arg)
c.2206A>C (p.Ser736Arg)
c.463+3556A>C (n.463+3556A>C)
c.663+1207A>C (n.663+1207A>C)
c.1540A>C (p.Ser514Arg)
10g.68885666A>GCA376882015STOX1c.1870A>G (p.Ser624Gly)
c.2206A>G (p.Ser736Gly)
c.463+3556A>G (n.463+3556A>G)
c.663+1207A>G (n.663+1207A>G)
c.1540A>G (p.Ser514Gly)
10g.68885666A>TCA376882016STOX1c.1870A>T (p.Ser624Cys)
c.2206A>T (p.Ser736Cys)
c.463+3556A>T (n.463+3556A>T)
c.663+1207A>T (n.663+1207A>T)
c.1540A>T (p.Ser514Cys)
10g.68885667G>ACA376882018STOX1c.1871G>A (p.Ser624Asn)
c.2207G>A (p.Ser736Asn)
c.463+3557G>A (n.463+3557G>A)
c.663+1208G>A (n.663+1208G>A)
c.1541G>A (p.Ser514Asn)
10g.68885667G>CCA376882019STOX1c.1871G>C (p.Ser624Thr)
c.2207G>C (p.Ser736Thr)
c.463+3557G>C (n.463+3557G>C)
c.663+1208G>C (n.663+1208G>C)
c.1541G>C (p.Ser514Thr)
10g.68885667G>TCA376882017STOX1c.1871G>T (p.Ser624Ile)
c.2207G>T (p.Ser736Ile)
c.463+3557G>T (n.463+3557G>T)
c.663+1208G>T (n.663+1208G>T)
c.1541G>T (p.Ser514Ile)
 COSMIC
10g.68885668T>ACA376882020STOX1c.1872T>A (p.Ser624Arg)
c.2208T>A (p.Ser736Arg)
c.463+3558T>A (n.463+3558T>A)
c.663+1209T>A (n.663+1209T>A)
c.1542T>A (p.Ser514Arg)
10g.68885668T>CCA470274125STOX1c.1872T>C (p.Ser624=)
c.2208T>C (p.Ser736=)
c.463+3558T>C (n.463+3558T>C)
c.663+1209T>C (n.663+1209T>C)
c.1542T>C (p.Ser514=)
10g.68885668T>GCA376882021STOX1c.1872T>G (p.Ser624Arg)
c.2208T>G (p.Ser736Arg)
c.463+3558T>G (n.463+3558T>G)
c.663+1209T>G (n.663+1209T>G)
c.1542T>G (p.Ser514Arg)
10g.68885669C>ACA376882022STOX1c.1873C>A (p.His625Asn)
c.2209C>A (p.His737Asn)
c.463+3559C>A (n.463+3559C>A)
c.663+1210C>A (n.663+1210C>A)
c.1543C>A (p.His515Asn)
 gnomAD v4
10g.68885669C>GCA376882023STOX1c.1873C>G (p.His625Asp)
c.2209C>G (p.His737Asp)
c.463+3559C>G (n.463+3559C>G)
c.663+1210C>G (n.663+1210C>G)
c.1543C>G (p.His515Asp)
10g.68885669C>TCA376882024STOX1c.1873C>T (p.His625Tyr)
c.2209C>T (p.His737Tyr)
c.463+3559C>T (n.463+3559C>T)
c.663+1210C>T (n.663+1210C>T)
c.1543C>T (p.His515Tyr)
10g.68885670A>CCA376882025STOX1c.1874A>C (p.His625Pro)
c.2210A>C (p.His737Pro)
c.463+3560A>C (n.463+3560A>C)
c.663+1211A>C (n.663+1211A>C)
c.1544A>C (p.His515Pro)
10g.68885670A>GCA376882026STOX1c.1874A>G (p.His625Arg)
c.2210A>G (p.His737Arg)
c.463+3560A>G (n.463+3560A>G)
c.663+1211A>G (n.663+1211A>G)
c.1544A>G (p.His515Arg)
10g.68885670A>TCA376882027STOX1c.1874A>T (p.His625Leu)
c.2210A>T (p.His737Leu)
c.463+3560A>T (n.463+3560A>T)
c.663+1211A>T (n.663+1211A>T)
c.1544A>T (p.His515Leu)
 gnomAD v4
10g.68885671T>ACA376882029STOX1c.1875T>A (p.His625Gln)
c.2211T>A (p.His737Gln)
c.463+3561T>A (n.463+3561T>A)
c.663+1212T>A (n.663+1212T>A)
c.1545T>A (p.His515Gln)
10g.68885671T>CCA470274126STOX1c.1875T>C (p.His625=)
c.2211T>C (p.His737=)
c.463+3561T>C (n.463+3561T>C)
c.663+1212T>C (n.663+1212T>C)
c.1545T>C (p.His515=)
10g.68885671T>GCA376882028STOX1c.1875T>G (p.His625Gln)
c.2211T>G (p.His737Gln)
c.463+3561T>G (n.463+3561T>G)
c.663+1212T>G (n.663+1212T>G)
c.1545T>G (p.His515Gln)
10g.68885672T>ACA376882030STOX1c.1876T>A (p.Ser626Thr)
c.2212T>A (p.Ser738Thr)
c.463+3562T>A (n.463+3562T>A)
c.663+1213T>A (n.663+1213T>A)
c.1546T>A (p.Ser516Thr)
10g.68885672T>CCA5528240STOX1c.1876T>C (p.Ser626Pro)
c.2212T>C (p.Ser738Pro)
c.463+3562T>C (n.463+3562T>C)
c.663+1213T>C (n.663+1213T>C)
c.1546T>C (p.Ser516Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.68885672T>GCA376882031STOX1c.1876T>G (p.Ser626Ala)
c.2212T>G (p.Ser738Ala)
c.463+3562T>G (n.463+3562T>G)
c.663+1213T>G (n.663+1213T>G)
c.1546T>G (p.Ser516Ala)
 gnomAD v4
10g.68885672T=CA1917550074STOX1c.1876T= (p.Ser626=)
c.2212T= (p.Ser738=)
c.463+3562T= (n.463+3562T=)
c.663+1213T= (n.663+1213T=)
c.1546T= (p.Ser516=)
10g.68885673C>ACA376882032STOX1c.1877C>A (p.Ser626Tyr)
c.2213C>A (p.Ser738Tyr)
c.463+3563C>A (n.463+3563C>A)
c.663+1214C>A (n.663+1214C>A)
c.1547C>A (p.Ser516Tyr)
10g.68885673C=CA1917550075STOX1c.1877C= (p.Ser626=)
c.2213C= (p.Ser738=)
c.463+3563C= (n.463+3563C=)
c.663+1214C= (n.663+1214C=)
c.1547C= (p.Ser516=)
10g.68885673C>GCA376882033STOX1c.1877C>G (p.Ser626Cys)
c.2213C>G (p.Ser738Cys)
c.463+3563C>G (n.463+3563C>G)
c.663+1214C>G (n.663+1214C>G)
c.1547C>G (p.Ser516Cys)
10g.68885673C>TCA376882034STOX1c.1877C>T (p.Ser626Phe)
c.2213C>T (p.Ser738Phe)
c.463+3563C>T (n.463+3563C>T)
c.663+1214C>T (n.663+1214C>T)
c.1547C>T (p.Ser516Phe)
 dbSNP gnomAD v3 gnomAD v4
10g.68885674C>ACA470274127STOX1c.1878C>A (p.Ser626=)
c.2214C>A (p.Ser738=)
c.463+3564C>A (n.463+3564C>A)
c.663+1215C>A (n.663+1215C>A)
c.1548C>A (p.Ser516=)
 gnomAD v4
10g.68885674C=CA1917550076STOX1c.1878C= (p.Ser626=)
c.2214C= (p.Ser738=)
c.463+3564C= (n.463+3564C=)
c.663+1215C= (n.663+1215C=)
c.1548C= (p.Ser516=)
10g.68885674C>GCA470274128STOX1c.1878C>G (p.Ser626=)
c.2214C>G (p.Ser738=)
c.463+3564C>G (n.463+3564C>G)
c.663+1215C>G (n.663+1215C>G)
c.1548C>G (p.Ser516=)
10g.68885674C>TCA208268350STOX1c.1878C>T (p.Ser626=)
c.2214C>T (p.Ser738=)
c.463+3564C>T (n.463+3564C>T)
c.663+1215C>T (n.663+1215C>T)
c.1548C>T (p.Ser516=)
 dbSNP
10g.68885675_68885677delCA2741104326STOX1c.1879_1881del (p.His627del)
c.2215_2217del (p.His739del)
c.463+3565_463+3567del (n.463+3565_463+3567del)
c.663+1216_663+1218del (n.663+1216_663+1218del)
c.1549_1551del (p.His517del)
10g.68885675C>ACA376882037STOX1c.1879C>A (p.His627Asn)
c.2215C>A (p.His739Asn)
c.463+3565C>A (n.463+3565C>A)
c.663+1216C>A (n.663+1216C>A)
c.1549C>A (p.His517Asn)
10g.68885675C=CA1917550077STOX1c.1879C= (p.His627=)
c.2215C= (p.His739=)
c.463+3565C= (n.463+3565C=)
c.663+1216C= (n.663+1216C=)
c.1549C= (p.His517=)
10g.68885675C>GCA376882035STOX1c.1879C>G (p.His627Asp)
c.2215C>G (p.His739Asp)
c.463+3565C>G (n.463+3565C>G)
c.663+1216C>G (n.663+1216C>G)
c.1549C>G (p.His517Asp)
10g.68885675C>TCA376882036STOX1c.1879C>T (p.His627Tyr)
c.2215C>T (p.His739Tyr)
c.463+3565C>T (n.463+3565C>T)
c.663+1216C>T (n.663+1216C>T)
c.1549C>T (p.His517Tyr)
 dbSNP gnomAD v4 COSMIC
10g.68885676A>CCA376882038STOX1c.1880A>C (p.His627Pro)
c.2216A>C (p.His739Pro)
c.463+3566A>C (n.463+3566A>C)
c.663+1217A>C (n.663+1217A>C)
c.1550A>C (p.His517Pro)
 gnomAD v4
10g.68885676A>GCA376882039STOX1c.1880A>G (p.His627Arg)
c.2216A>G (p.His739Arg)
c.463+3566A>G (n.463+3566A>G)
c.663+1217A>G (n.663+1217A>G)
c.1550A>G (p.His517Arg)
10g.68885676A>TCA376882040STOX1c.1880A>T (p.His627Leu)
c.2216A>T (p.His739Leu)
c.463+3566A>T (n.463+3566A>T)
c.663+1217A>T (n.663+1217A>T)
c.1550A>T (p.His517Leu)
10g.68885677C>ACA376882041STOX1c.1881C>A (p.His627Gln)
c.2217C>A (p.His739Gln)
c.463+3567C>A (n.463+3567C>A)
c.663+1218C>A (n.663+1218C>A)
c.1551C>A (p.His517Gln)
10g.68885677C>GCA376882042STOX1c.1881C>G (p.His627Gln)
c.2217C>G (p.His739Gln)
c.463+3567C>G (n.463+3567C>G)
c.663+1218C>G (n.663+1218C>G)
c.1551C>G (p.His517Gln)
10g.68885677C>TCA470274129STOX1c.1881C>T (p.His627=)
c.2217C>T (p.His739=)
c.463+3567C>T (n.463+3567C>T)
c.663+1218C>T (n.663+1218C>T)
c.1551C>T (p.His517=)
 gnomAD v4
10g.68885678T>ACA376882043STOX1c.1882T>A (p.Phe628Ile)
c.2218T>A (p.Phe740Ile)
c.463+3568T>A (n.463+3568T>A)
c.663+1219T>A (n.663+1219T>A)
c.1552T>A (p.Phe518Ile)
10g.68885678T>CCA376882044STOX1c.1882T>C (p.Phe628Leu)
c.2218T>C (p.Phe740Leu)
c.463+3568T>C (n.463+3568T>C)
c.663+1219T>C (n.663+1219T>C)
c.1552T>C (p.Phe518Leu)
10g.68885678T>GCA376882045STOX1c.1882T>G (p.Phe628Val)
c.2218T>G (p.Phe740Val)
c.463+3568T>G (n.463+3568T>G)
c.663+1219T>G (n.663+1219T>G)
c.1552T>G (p.Phe518Val)
 dbSNP
10g.68885678T=CA1917550078STOX1c.1882T= (p.Phe628=)
c.2218T= (p.Phe740=)
c.463+3568T= (n.463+3568T=)
c.663+1219T= (n.663+1219T=)
c.1552T= (p.Phe518=)
10g.68885679T>ACA376882046STOX1c.1883T>A (p.Phe628Tyr)
c.2219T>A (p.Phe740Tyr)
c.463+3569T>A (n.463+3569T>A)
c.663+1220T>A (n.663+1220T>A)
c.1553T>A (p.Phe518Tyr)
10g.68885679T>CCA376882047STOX1c.1883T>C (p.Phe628Ser)
c.2219T>C (p.Phe740Ser)
c.463+3569T>C (n.463+3569T>C)
c.663+1220T>C (n.663+1220T>C)
c.1553T>C (p.Phe518Ser)
 gnomAD v4
10g.68885679T>GCA5528241STOX1c.1883T>G (p.Phe628Cys)
c.2219T>G (p.Phe740Cys)
c.463+3569T>G (n.463+3569T>G)
c.663+1220T>G (n.663+1220T>G)
c.1553T>G (p.Phe518Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.68885679T=CA1917550079STOX1c.1883T= (p.Phe628=)
c.2219T= (p.Phe740=)
c.463+3569T= (n.463+3569T=)
c.663+1220T= (n.663+1220T=)
c.1553T= (p.Phe518=)
10g.68885680T>ACA376882048STOX1c.1884T>A (p.Phe628Leu)
c.2220T>A (p.Phe740Leu)
c.463+3570T>A (n.463+3570T>A)
c.663+1221T>A (n.663+1221T>A)
c.1554T>A (p.Phe518Leu)
10g.68885680T>CCA470274130STOX1c.1884T>C (p.Phe628=)
c.2220T>C (p.Phe740=)
c.463+3570T>C (n.463+3570T>C)
c.663+1221T>C (n.663+1221T>C)
c.1554T>C (p.Phe518=)
 dbSNP
10g.68885680T>GCA376882049STOX1c.1884T>G (p.Phe628Leu)
c.2220T>G (p.Phe740Leu)
c.463+3570T>G (n.463+3570T>G)
c.663+1221T>G (n.663+1221T>G)
c.1554T>G (p.Phe518Leu)
 dbSNP gnomAD v2 gnomAD v4
10g.68885680T=CA1917550080STOX1c.1884T= (p.Phe628=)
c.2220T= (p.Phe740=)
c.463+3570T= (n.463+3570T=)
c.663+1221T= (n.663+1221T=)
c.1554T= (p.Phe518=)
10g.68885681G>ACA376882052STOX1c.1885G>A (p.Asp629Asn)
c.2221G>A (p.Asp741Asn)
c.463+3571G>A (n.463+3571G>A)
c.663+1222G>A (n.663+1222G>A)
c.1555G>A (p.Asp519Asn)
10g.68885681G>CCA376882050STOX1c.1885G>C (p.Asp629His)
c.2221G>C (p.Asp741His)
c.463+3571G>C (n.463+3571G>C)
c.663+1222G>C (n.663+1222G>C)
c.1555G>C (p.Asp519His)
10g.68885681G>TCA376882051STOX1c.1885G>T (p.Asp629Tyr)
c.2221G>T (p.Asp741Tyr)
c.463+3571G>T (n.463+3571G>T)
c.663+1222G>T (n.663+1222G>T)
c.1555G>T (p.Asp519Tyr)
10g.68885682A>CCA376882053STOX1c.1886A>C (p.Asp629Ala)
c.2222A>C (p.Asp741Ala)
c.463+3572A>C (n.463+3572A>C)
c.663+1223A>C (n.663+1223A>C)
c.1556A>C (p.Asp519Ala)
10g.68885682A>GCA376882054STOX1c.1886A>G (p.Asp629Gly)
c.2222A>G (p.Asp741Gly)
c.463+3572A>G (n.463+3572A>G)
c.663+1223A>G (n.663+1223A>G)
c.1556A>G (p.Asp519Gly)
10g.68885682A>TCA376882055STOX1c.1886A>T (p.Asp629Val)
c.2222A>T (p.Asp741Val)
c.463+3572A>T (n.463+3572A>T)
c.663+1223A>T (n.663+1223A>T)
c.1556A>T (p.Asp519Val)
10g.68885683C>ACA376882056STOX1c.1887C>A (p.Asp629Glu)
c.2223C>A (p.Asp741Glu)
c.463+3573C>A (n.463+3573C>A)
c.663+1224C>A (n.663+1224C>A)
c.1557C>A (p.Asp519Glu)
10g.68885683C=CA1917550081STOX1c.1887C= (p.Asp629=)
c.2223C= (p.Asp741=)
c.463+3573C= (n.463+3573C=)
c.663+1224C= (n.663+1224C=)
c.1557C= (p.Asp519=)
10g.68885683C>GCA5528242STOX1c.1887C>G (p.Asp629Glu)
c.2223C>G (p.Asp741Glu)
c.463+3573C>G (n.463+3573C>G)
c.663+1224C>G (n.663+1224C>G)
c.1557C>G (p.Asp519Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.68885683C>TCA470274131STOX1c.1887C>T (p.Asp629=)
c.2223C>T (p.Asp741=)
c.463+3573C>T (n.463+3573C>T)
c.663+1224C>T (n.663+1224C>T)
c.1557C>T (p.Asp519=)
10g.68885684A>CCA376882057STOX1c.1888A>C (p.Lys630Gln)
c.2224A>C (p.Lys742Gln)
c.463+3574A>C (n.463+3574A>C)
c.663+1225A>C (n.663+1225A>C)
c.1558A>C (p.Lys520Gln)
10g.68885684A>GCA376882058STOX1c.1888A>G (p.Lys630Glu)
c.2224A>G (p.Lys742Glu)
c.463+3574A>G (n.463+3574A>G)
c.663+1225A>G (n.663+1225A>G)
c.1558A>G (p.Lys520Glu)
10g.68885684A>TCA376882059STOX1c.1888A>T (p.Lys630Ter)
c.2224A>T (p.Lys742Ter)
c.463+3574A>T (n.463+3574A>T)
c.663+1225A>T (n.663+1225A>T)
c.1558A>T (p.Lys520Ter)
10g.68885685A=CA1917550082STOX1c.1889A= (p.Lys630=)
c.2225A= (p.Lys742=)
c.463+3575A= (n.463+3575A=)
c.663+1226A= (n.663+1226A=)
c.1559A= (p.Lys520=)
10g.68885685A>CCA376882060STOX1c.1889A>C (p.Lys630Thr)
c.2225A>C (p.Lys742Thr)
c.463+3575A>C (n.463+3575A>C)
c.663+1226A>C (n.663+1226A>C)
c.1559A>C (p.Lys520Thr)
10g.68885685A>GCA376882062STOX1c.1889A>G (p.Lys630Arg)
c.2225A>G (p.Lys742Arg)
c.463+3575A>G (n.463+3575A>G)
c.663+1226A>G (n.663+1226A>G)
c.1559A>G (p.Lys520Arg)
 dbSNP gnomAD v2
10g.68885685A>TCA376882061STOX1c.1889A>T (p.Lys630Ile)
c.2225A>T (p.Lys742Ile)
c.463+3575A>T (n.463+3575A>T)
c.663+1226A>T (n.663+1226A>T)
c.1559A>T (p.Lys520Ile)
10g.68885686A>CCA376882063STOX1c.1890A>C (p.Lys630Asn)
c.2226A>C (p.Lys742Asn)
c.463+3576A>C (n.463+3576A>C)
c.663+1227A>C (n.663+1227A>C)
c.1560A>C (p.Lys520Asn)
10g.68885686A>GCA470274132STOX1c.1890A>G (p.Lys630=)
c.2226A>G (p.Lys742=)
c.463+3576A>G (n.463+3576A>G)
c.663+1227A>G (n.663+1227A>G)
c.1560A>G (p.Lys520=)
10g.68885686A>TCA376882064STOX1c.1890A>T (p.Lys630Asn)
c.2226A>T (p.Lys742Asn)
c.463+3576A>T (n.463+3576A>T)
c.663+1227A>T (n.663+1227A>T)
c.1560A>T (p.Lys520Asn)
10g.68885687T>ACA376882065STOX1c.1891T>A (p.Leu631Ile)
c.2227T>A (p.Leu743Ile)
c.463+3577T>A (n.463+3577T>A)
c.663+1228T>A (n.663+1228T>A)
c.1561T>A (p.Leu521Ile)
10g.68885687T>CCA470274133STOX1c.1891T>C (p.Leu631=)
c.2227T>C (p.Leu743=)
c.463+3577T>C (n.463+3577T>C)
c.663+1228T>C (n.663+1228T>C)
c.1561T>C (p.Leu521=)
10g.68885687T>GCA376882066STOX1c.1891T>G (p.Leu631Val)
c.2227T>G (p.Leu743Val)
c.463+3577T>G (n.463+3577T>G)
c.663+1228T>G (n.663+1228T>G)
c.1561T>G (p.Leu521Val)
10g.68885688T>ACA376882067STOX1c.1892T>A (p.Leu631Ter)
c.2228T>A (p.Leu743Ter)
c.463+3578T>A (n.463+3578T>A)
c.663+1229T>A (n.663+1229T>A)
c.1562T>A (p.Leu521Ter)
10g.68885688T>CCA376882069STOX1c.1892T>C (p.Leu631Ser)
c.2228T>C (p.Leu743Ser)
c.463+3578T>C (n.463+3578T>C)
c.663+1229T>C (n.663+1229T>C)
c.1562T>C (p.Leu521Ser)
 gnomAD v4
10g.68885688T>GCA376882068STOX1c.1892T>G (p.Leu631Ter)
c.2228T>G (p.Leu743Ter)
c.463+3578T>G (n.463+3578T>G)
c.663+1229T>G (n.663+1229T>G)
c.1562T>G (p.Leu521Ter)
10g.68885689A>CCA376882070STOX1c.1893A>C (p.Leu631Phe)
c.2229A>C (p.Leu743Phe)
c.463+3579A>C (n.463+3579A>C)
c.663+1230A>C (n.663+1230A>C)
c.1563A>C (p.Leu521Phe)
 gnomAD v4
10g.68885689A>GCA470274134STOX1c.1893A>G (p.Leu631=)
c.2229A>G (p.Leu743=)
c.463+3579A>G (n.463+3579A>G)
c.663+1230A>G (n.663+1230A>G)
c.1563A>G (p.Leu521=)
10g.68885689A>TCA376882071STOX1c.1893A>T (p.Leu631Phe)
c.2229A>T (p.Leu743Phe)
c.463+3579A>T (n.463+3579A>T)
c.663+1230A>T (n.663+1230A>T)
c.1563A>T (p.Leu521Phe)
10g.68885690G>ACA376882072STOX1c.1894G>A (p.Gly632Arg)
c.2230G>A (p.Gly744Arg)
c.463+3580G>A (n.463+3580G>A)
c.663+1231G>A (n.663+1231G>A)
c.1564G>A (p.Gly522Arg)
10g.68885690G>CCA376882073STOX1c.1894G>C (p.Gly632Arg)
c.2230G>C (p.Gly744Arg)
c.463+3580G>C (n.463+3580G>C)
c.663+1231G>C (n.663+1231G>C)
c.1564G>C (p.Gly522Arg)
10g.68885690G>TCA376882074STOX1c.1894G>T (p.Gly632Trp)
c.2230G>T (p.Gly744Trp)
c.463+3580G>T (n.463+3580G>T)
c.663+1231G>T (n.663+1231G>T)
c.1564G>T (p.Gly522Trp)
10g.68885691G>ACA376882075STOX1c.1895G>A (p.Gly632Glu)
c.2231G>A (p.Gly744Glu)
c.463+3581G>A (n.463+3581G>A)
c.663+1232G>A (n.663+1232G>A)
c.1565G>A (p.Gly522Glu)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
10g.68885691G>CCA376882076STOX1c.1895G>C (p.Gly632Ala)
c.2231G>C (p.Gly744Ala)
c.463+3581G>C (n.463+3581G>C)
c.663+1232G>C (n.663+1232G>C)
c.1565G>C (p.Gly522Ala)
10g.68885691G=CA1917550083STOX1c.1895G= (p.Gly632=)
c.2231G= (p.Gly744=)
c.463+3581G= (n.463+3581G=)
c.663+1232G= (n.663+1232G=)
c.1565G= (p.Gly522=)
10g.68885691G>TCA376882077STOX1c.1895G>T (p.Gly632Val)
c.2231G>T (p.Gly744Val)
c.463+3581G>T (n.463+3581G>T)
c.663+1232G>T (n.663+1232G>T)
c.1565G>T (p.Gly522Val)
 gnomAD v4
10g.68885692G>ACA470274135STOX1c.1896G>A (p.Gly632=)
c.2232G>A (p.Gly744=)
c.463+3582G>A (n.463+3582G>A)
c.663+1233G>A (n.663+1233G>A)
c.1566G>A (p.Gly522=)
 dbSNP gnomAD v3 gnomAD v4
10g.68885692G>CCA470274136STOX1c.1896G>C (p.Gly632=)
c.2232G>C (p.Gly744=)
c.463+3582G>C (n.463+3582G>C)
c.663+1233G>C (n.663+1233G>C)
c.1566G>C (p.Gly522=)
10g.68885692G=CA1917550084STOX1c.1896G= (p.Gly632=)
c.2232G= (p.Gly744=)
c.463+3582G= (n.463+3582G=)
c.663+1233G= (n.663+1233G=)
c.1566G= (p.Gly522=)
10g.68885692G>TCA470274137STOX1c.1896G>T (p.Gly632=)
c.2232G>T (p.Gly744=)
c.463+3582G>T (n.463+3582G>T)
c.663+1233G>T (n.663+1233G>T)
c.1566G>T (p.Gly522=)
10g.68885693G>ACA5528243STOX1c.1897G>A (p.Glu633Lys)
c.2233G>A (p.Glu745Lys)
c.463+3583G>A (n.463+3583G>A)
c.663+1234G>A (n.663+1234G>A)
c.1567G>A (p.Glu523Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.68885693G>CCA376882078STOX1c.1897G>C (p.Glu633Gln)
c.2233G>C (p.Glu745Gln)
c.463+3583G>C (n.463+3583G>C)
c.663+1234G>C (n.663+1234G>C)
c.1567G>C (p.Glu523Gln)
10g.68885693G=CA1917550085STOX1c.1897G= (p.Glu633=)
c.2233G= (p.Glu745=)
c.463+3583G= (n.463+3583G=)
c.663+1234G= (n.663+1234G=)
c.1567G= (p.Glu523=)
10g.68885693G>TCA376882079STOX1c.1897G>T (p.Glu633Ter)
c.2233G>T (p.Glu745Ter)
c.463+3583G>T (n.463+3583G>T)
c.663+1234G>T (n.663+1234G>T)
c.1567G>T (p.Glu523Ter)
10g.68885694A>CCA376882080STOX1c.1898A>C (p.Glu633Ala)
c.2234A>C (p.Glu745Ala)
c.463+3584A>C (n.463+3584A>C)
c.663+1235A>C (n.663+1235A>C)
c.1568A>C (p.Glu523Ala)
10g.68885694A>GCA376882082STOX1c.1898A>G (p.Glu633Gly)
c.2234A>G (p.Glu745Gly)
c.463+3584A>G (n.463+3584A>G)
c.663+1235A>G (n.663+1235A>G)
c.1568A>G (p.Glu523Gly)
10g.68885694A>TCA376882081STOX1c.1898A>T (p.Glu633Val)
c.2234A>T (p.Glu745Val)
c.463+3584A>T (n.463+3584A>T)
c.663+1235A>T (n.663+1235A>T)
c.1568A>T (p.Glu523Val)
10g.68885695G>ACA470274138STOX1c.1899G>A (p.Glu633=)
c.2235G>A (p.Glu745=)
c.463+3585G>A (n.463+3585G>A)
c.663+1236G>A (n.663+1236G>A)
c.1569G>A (p.Glu523=)
10g.68885695G>CCA376882083STOX1c.1899G>C (p.Glu633Asp)
c.2235G>C (p.Glu745Asp)
c.463+3585G>C (n.463+3585G>C)
c.663+1236G>C (n.663+1236G>C)
c.1569G>C (p.Glu523Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.68885695G=CA1917550086STOX1c.1899G= (p.Glu633=)
c.2235G= (p.Glu745=)
c.463+3585G= (n.463+3585G=)
c.663+1236G= (n.663+1236G=)
c.1569G= (p.Glu523=)
10g.68885695G>TCA376882084STOX1c.1899G>T (p.Glu633Asp)
c.2235G>T (p.Glu745Asp)
c.463+3585G>T (n.463+3585G>T)
c.663+1236G>T (n.663+1236G>T)
c.1569G>T (p.Glu523Asp)
10g.68885696A>CCA376882085STOX1c.1900A>C (p.Thr634Pro)
c.2236A>C (p.Thr746Pro)
c.463+3586A>C (n.463+3586A>C)
c.663+1237A>C (n.663+1237A>C)
c.1570A>C (p.Thr524Pro)
10g.68885696A>GCA376882086STOX1c.1900A>G (p.Thr634Ala)
c.2236A>G (p.Thr746Ala)
c.463+3586A>G (n.463+3586A>G)
c.663+1237A>G (n.663+1237A>G)
c.1570A>G (p.Thr524Ala)
10g.68885696A>TCA376882087STOX1c.1900A>T (p.Thr634Ser)
c.2236A>T (p.Thr746Ser)
c.463+3586A>T (n.463+3586A>T)
c.663+1237A>T (n.663+1237A>T)
c.1570A>T (p.Thr524Ser)
10g.68885697C>ACA376882088STOX1c.1901C>A (p.Thr634Asn)
c.2237C>A (p.Thr746Asn)
c.463+3587C>A (n.463+3587C>A)
c.663+1238C>A (n.663+1238C>A)
c.1571C>A (p.Thr524Asn)
 dbSNP gnomAD v2 gnomAD v4
10g.68885697C=CA1917550088STOX1c.1901C= (p.Thr634=)
c.2237C= (p.Thr746=)
c.463+3587C= (n.463+3587C=)
c.663+1238C= (n.663+1238C=)
c.1571C= (p.Thr524=)
10g.68885697C>GCA376882089STOX1c.1901C>G (p.Thr634Ser)
c.2237C>G (p.Thr746Ser)
c.463+3587C>G (n.463+3587C>G)
c.663+1238C>G (n.663+1238C>G)
c.1571C>G (p.Thr524Ser)
10g.68885697C>TCA376882090STOX1c.1901C>T (p.Thr634Ile)
c.2237C>T (p.Thr746Ile)
c.463+3587C>T (n.463+3587C>T)
c.663+1238C>T (n.663+1238C>T)
c.1571C>T (p.Thr524Ile)
 gnomAD v4
10g.68885697_68885701delinsCCAAACA1917550087STOX1c.1901_1905delinsCCAAA (p.Thr634=)
c.2237_2241delinsCCAAA (p.Thr746=)
c.463+3587_463+3591delinsCCAAA (n.463+3587_463+3591delinsCCAAA)
c.663+1238_663+1242delinsCCAAA (n.663+1238_663+1242delinsCCAAA)
c.1571_1575delinsCCAAA (p.Thr524=)
10g.68885698C>ACA470274139STOX1c.1902C>A (p.Thr634=)
c.2238C>A (p.Thr746=)
c.463+3588C>A (n.463+3588C>A)
c.663+1239C>A (n.663+1239C>A)
c.1572C>A (p.Thr524=)
10g.68885698C=CA1917550089STOX1c.1902C= (p.Thr634=)
c.2238C= (p.Thr746=)
c.463+3588C= (n.463+3588C=)
c.663+1239C= (n.663+1239C=)
c.1572C= (p.Thr524=)
10g.68885698C>GCA5528244STOX1c.1902C>G (p.Thr634=)
c.2238C>G (p.Thr746=)
c.463+3588C>G (n.463+3588C>G)
c.663+1239C>G (n.663+1239C>G)
c.1572C>G (p.Thr524=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.68885698C>TCA470274140STOX1c.1902C>T (p.Thr634=)
c.2238C>T (p.Thr746=)
c.463+3588C>T (n.463+3588C>T)
c.663+1239C>T (n.663+1239C>T)
c.1572C>T (p.Thr524=)
10g.68885700_68885703delCA667871333STOX1c.1904_1907del (p.Lys635ArgfsTer23)
c.2240_2243del (p.Lys747ArgfsTer23)
c.463+3590_463+3593del (n.463+3590_463+3593del)
c.663+1241_663+1244del (n.663+1241_663+1244del)
c.1574_1577del (p.Lys525ArgfsTer23)
 dbSNP gnomAD v4
10g.68885699A>CCA376882091STOX1c.1903A>C (p.Lys635Gln)
c.2239A>C (p.Lys747Gln)
c.463+3589A>C (n.463+3589A>C)
c.663+1240A>C (n.663+1240A>C)
c.1573A>C (p.Lys525Gln)
10g.68885699A>GCA376882092STOX1c.1903A>G (p.Lys635Glu)
c.2239A>G (p.Lys747Glu)
c.463+3589A>G (n.463+3589A>G)
c.663+1240A>G (n.663+1240A>G)
c.1573A>G (p.Lys525Glu)
10g.68885699A>TCA376882093STOX1c.1903A>T (p.Lys635Ter)
c.2239A>T (p.Lys747Ter)
c.463+3589A>T (n.463+3589A>T)
c.663+1240A>T (n.663+1240A>T)
c.1573A>T (p.Lys525Ter)
10g.68885700A>CCA376882094STOX1c.1904A>C (p.Lys635Thr)
c.2240A>C (p.Lys747Thr)
c.463+3590A>C (n.463+3590A>C)
c.663+1241A>C (n.663+1241A>C)
c.1574A>C (p.Lys525Thr)
10g.68885700A>GCA376882095STOX1c.1904A>G (p.Lys635Arg)
c.2240A>G (p.Lys747Arg)
c.463+3590A>G (n.463+3590A>G)
c.663+1241A>G (n.663+1241A>G)
c.1574A>G (p.Lys525Arg)
10g.68885700A>TCA376882096STOX1c.1904A>T (p.Lys635Ile)
c.2240A>T (p.Lys747Ile)
c.463+3590A>T (n.463+3590A>T)
c.663+1241A>T (n.663+1241A>T)
c.1574A>T (p.Lys525Ile)
10g.68885701A=CA1917550090STOX1c.1905A= (p.Lys635=)
c.2241A= (p.Lys747=)
c.463+3591A= (n.463+3591A=)
c.663+1242A= (n.663+1242A=)
c.1575A= (p.Lys525=)
10g.68885701A>CCA376882097STOX1c.1905A>C (p.Lys635Asn)
c.2241A>C (p.Lys747Asn)
c.463+3591A>C (n.463+3591A>C)
c.663+1242A>C (n.663+1242A>C)
c.1575A>C (p.Lys525Asn)
 dbSNP
10g.68885701A>GCA470274141STOX1c.1905A>G (p.Lys635=)
c.2241A>G (p.Lys747=)
c.463+3591A>G (n.463+3591A>G)
c.663+1242A>G (n.663+1242A>G)
c.1575A>G (p.Lys525=)
 dbSNP gnomAD v2 gnomAD v4
10g.68885701A>TCA376882098STOX1c.1905A>T (p.Lys635Asn)
c.2241A>T (p.Lys747Asn)
c.463+3591A>T (n.463+3591A>T)
c.663+1242A>T (n.663+1242A>T)
c.1575A>T (p.Lys525Asn)
10g.68885702C>ACA376882099STOX1c.1906C>A (p.Gln636Lys)
c.2242C>A (p.Gln748Lys)
c.463+3592C>A (n.463+3592C>A)
c.663+1243C>A (n.663+1243C>A)
c.1576C>A (p.Gln526Lys)
10g.68885702C>GCA376882100STOX1c.1906C>G (p.Gln636Glu)
c.2242C>G (p.Gln748Glu)
c.463+3592C>G (n.463+3592C>G)
c.663+1243C>G (n.663+1243C>G)
c.1576C>G (p.Gln526Glu)
 dbSNP gnomAD v4
10g.68885702C>TCA376882101STOX1c.1906C>T (p.Gln636Ter)
c.2242C>T (p.Gln748Ter)
c.463+3592C>T (n.463+3592C>T)
c.663+1243C>T (n.663+1243C>T)
c.1576C>T (p.Gln526Ter)
10g.68885703A=CA1917550091STOX1c.1907A= (p.Gln636=)
c.2243A= (p.Gln748=)
c.463+3593A= (n.463+3593A=)
c.663+1244A= (n.663+1244A=)
c.1577A= (p.Gln526=)
10g.68885703A>CCA376882102STOX1c.1907A>C (p.Gln636Pro)
c.2243A>C (p.Gln748Pro)
c.463+3593A>C (n.463+3593A>C)
c.663+1244A>C (n.663+1244A>C)
c.1577A>C (p.Gln526Pro)
10g.68885703A>GCA376882103STOX1c.1907A>G (p.Gln636Arg)
c.2243A>G (p.Gln748Arg)
c.463+3593A>G (n.463+3593A>G)
c.663+1244A>G (n.663+1244A>G)
c.1577A>G (p.Gln526Arg)
 dbSNP gnomAD v3 gnomAD v4
10g.68885703A>TCA376882104STOX1c.1907A>T (p.Gln636Leu)
c.2243A>T (p.Gln748Leu)
c.463+3593A>T (n.463+3593A>T)
c.663+1244A>T (n.663+1244A>T)
c.1577A>T (p.Gln526Leu)
10g.68885704G>ACA208268391STOX1c.1908G>A (p.Gln636=)
c.2244G>A (p.Gln748=)
c.463+3594G>A (n.463+3594G>A)
c.663+1245G>A (n.663+1245G>A)
c.1578G>A (p.Gln526=)
 dbSNP COSMIC
10g.68885704G>CCA376882105STOX1c.1908G>C (p.Gln636His)
c.2244G>C (p.Gln748His)
c.463+3594G>C (n.463+3594G>C)
c.663+1245G>C (n.663+1245G>C)
c.1578G>C (p.Gln526His)
10g.68885704G=CA1917550092STOX1c.1908G= (p.Gln636=)
c.2244G= (p.Gln748=)
c.463+3594G= (n.463+3594G=)
c.663+1245G= (n.663+1245G=)
c.1578G= (p.Gln526=)
10g.68885704G>TCA376882106STOX1c.1908G>T (p.Gln636His)
c.2244G>T (p.Gln748His)
c.463+3594G>T (n.463+3594G>T)
c.663+1245G>T (n.663+1245G>T)
c.1578G>T (p.Gln526His)
10g.68885705A>CCA376882107STOX1c.1909A>C (p.Thr637Pro)
c.2245A>C (p.Thr749Pro)
c.463+3595A>C (n.463+3595A>C)
c.663+1246A>C (n.663+1246A>C)
c.1579A>C (p.Thr527Pro)
10g.68885705A>GCA376882108STOX1c.1909A>G (p.Thr637Ala)
c.2245A>G (p.Thr749Ala)
c.463+3595A>G (n.463+3595A>G)
c.663+1246A>G (n.663+1246A>G)
c.1579A>G (p.Thr527Ala)
10g.68885705A>TCA376882109STOX1c.1909A>T (p.Thr637Ser)
c.2245A>T (p.Thr749Ser)
c.463+3595A>T (n.463+3595A>T)
c.663+1246A>T (n.663+1246A>T)
c.1579A>T (p.Thr527Ser)
10g.68885706C>ACA376882110STOX1c.1910C>A (p.Thr637Asn)
c.2246C>A (p.Thr749Asn)
c.463+3596C>A (n.463+3596C>A)
c.663+1247C>A (n.663+1247C>A)
c.1580C>A (p.Thr527Asn)
10g.68885706C>GCA376882112STOX1c.1910C>G (p.Thr637Ser)
c.2246C>G (p.Thr749Ser)
c.463+3596C>G (n.463+3596C>G)
c.663+1247C>G (n.663+1247C>G)
c.1580C>G (p.Thr527Ser)
10g.68885706C>TCA376882111STOX1c.1910C>T (p.Thr637Ile)
c.2246C>T (p.Thr749Ile)
c.463+3596C>T (n.463+3596C>T)
c.663+1247C>T (n.663+1247C>T)
c.1580C>T (p.Thr527Ile)
10g.68885707T>ACA470274142STOX1c.1911T>A (p.Thr637=)
c.2247T>A (p.Thr749=)
c.463+3597T>A (n.463+3597T>A)
c.663+1248T>A (n.663+1248T>A)
c.1581T>A (p.Thr527=)
10g.68885707T>CCA470274143STOX1c.1911T>C (p.Thr637=)
c.2247T>C (p.Thr749=)
c.463+3597T>C (n.463+3597T>C)
c.663+1248T>C (n.663+1248T>C)
c.1581T>C (p.Thr527=)
10g.68885707T>GCA470274144STOX1c.1911T>G (p.Thr637=)
c.2247T>G (p.Thr749=)
c.463+3597T>G (n.463+3597T>G)
c.663+1248T>G (n.663+1248T>G)
c.1581T>G (p.Thr527=)
10g.68885708C>ACA376882113STOX1c.1912C>A (p.Pro638Thr)
c.2248C>A (p.Pro750Thr)
c.463+3598C>A (n.463+3598C>A)
c.663+1249C>A (n.663+1249C>A)
c.1582C>A (p.Pro528Thr)
10g.68885708C=CA1917550093STOX1c.1912C= (p.Pro638=)
c.2248C= (p.Pro750=)
c.463+3598C= (n.463+3598C=)
c.663+1249C= (n.663+1249C=)
c.1582C= (p.Pro528=)
10g.68885708C>GCA376882114STOX1c.1912C>G (p.Pro638Ala)
c.2248C>G (p.Pro750Ala)
c.463+3598C>G (n.463+3598C>G)
c.663+1249C>G (n.663+1249C>G)
c.1582C>G (p.Pro528Ala)
 dbSNP gnomAD v3 gnomAD v4
10g.68885708C>TCA376882115STOX1c.1912C>T (p.Pro638Ser)
c.2248C>T (p.Pro750Ser)
c.463+3598C>T (n.463+3598C>T)
c.663+1249C>T (n.663+1249C>T)
c.1582C>T (p.Pro528Ser)
10g.68885709C>ACA376882116STOX1c.1913C>A (p.Pro638Gln)
c.2249C>A (p.Pro750Gln)
c.463+3599C>A (n.463+3599C>A)
c.663+1250C>A (n.663+1250C>A)
c.1583C>A (p.Pro528Gln)
10g.68885709C=CA1917550094STOX1c.1913C= (p.Pro638=)
c.2249C= (p.Pro750=)
c.463+3599C= (n.463+3599C=)
c.663+1250C= (n.663+1250C=)
c.1583C= (p.Pro528=)
10g.68885709C>GCA376882117STOX1c.1913C>G (p.Pro638Arg)
c.2249C>G (p.Pro750Arg)
c.463+3599C>G (n.463+3599C>G)
c.663+1250C>G (n.663+1250C>G)
c.1583C>G (p.Pro528Arg)
10g.68885709C>TCA5528245STOX1c.1913C>T (p.Pro638Leu)
c.2249C>T (p.Pro750Leu)
c.463+3599C>T (n.463+3599C>T)
c.663+1250C>T (n.663+1250C>T)
c.1583C>T (p.Pro528Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
10g.68885710G>ACA5528246STOX1c.1914G>A (p.Pro638=)
c.2250G>A (p.Pro750=)
c.463+3600G>A (n.463+3600G>A)
c.663+1251G>A (n.663+1251G>A)
c.1584G>A (p.Pro528=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.68885710G>CCA470274145STOX1c.1914G>C (p.Pro638=)
c.2250G>C (p.Pro750=)
c.463+3600G>C (n.463+3600G>C)
c.663+1251G>C (n.663+1251G>C)
c.1584G>C (p.Pro528=)
10g.68885710G=CA1917550096STOX1c.1914G= (p.Pro638=)
c.2250G= (p.Pro750=)
c.463+3600G= (n.463+3600G=)
c.663+1251G= (n.663+1251G=)
c.1584G= (p.Pro528=)
10g.68885710G>TCA208268394STOX1c.1914G>T (p.Pro638=)
c.2250G>T (p.Pro750=)
c.463+3600G>T (n.463+3600G>T)
c.663+1251G>T (n.663+1251G>T)
c.1584G>T (p.Pro528=)
 dbSNP gnomAD v3 gnomAD v4
10g.68885710_68885720delinsGCATAGTCTGCCA1917550095STOX1c.1914_1924delinsGCATAGTCTGC (p.Pro638=)
c.2250_2260delinsGCATAGTCTGC (p.Pro750=)
c.463+3600_463+3610delinsGCATAGTCTGC (n.463+3600_463+3610delinsGCATAGTCTGC)
c.663+1251_663+1261delinsGCATAGTCTGC (n.663+1251_663+1261delinsGCATAGTCTGC)
c.1584_1594delinsGCATAGTCTGC (p.Pro528=)
10g.68885711C>ACA376882118STOX1c.1915C>A (p.His639Asn)
c.2251C>A (p.His751Asn)
c.463+3601C>A (n.463+3601C>A)
c.663+1252C>A (n.663+1252C>A)
c.1585C>A (p.His529Asn)
10g.68885711C=CA1917550097STOX1c.1915C= (p.His639=)
c.2251C= (p.His751=)
c.463+3601C= (n.463+3601C=)
c.663+1252C= (n.663+1252C=)
c.1585C= (p.His529=)
10g.68885711C>GCA376882119STOX1c.1915C>G (p.His639Asp)
c.2251C>G (p.His751Asp)
c.463+3601C>G (n.463+3601C>G)
c.663+1252C>G (n.663+1252C>G)
c.1585C>G (p.His529Asp)
10g.68885711C>TCA376882120STOX1c.1915C>T (p.His639Tyr)
c.2251C>T (p.His751Tyr)
c.463+3601C>T (n.463+3601C>T)
c.663+1252C>T (n.663+1252C>T)
c.1585C>T (p.His529Tyr)
 dbSNP
10g.68885714_68885723delCA5528247STOX1c.1918_1927del (p.Ser640HisfsTer16)
c.2254_2263del (p.Ser752HisfsTer16)
c.463+3604_463+3613del (n.463+3604_463+3613del)
c.663+1255_663+1264del (n.663+1255_663+1264del)
c.1588_1597del (p.Ser530HisfsTer16)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.68885712A=CA1917550098STOX1c.1916A= (p.His639=)
c.2252A= (p.His751=)
c.463+3602A= (n.463+3602A=)
c.663+1253A= (n.663+1253A=)
c.1586A= (p.His529=)
10g.68885712A>CCA376882121STOX1c.1916A>C (p.His639Pro)
c.2252A>C (p.His751Pro)
c.463+3602A>C (n.463+3602A>C)
c.663+1253A>C (n.663+1253A>C)
c.1586A>C (p.His529Pro)
 dbSNP gnomAD v2 gnomAD v4
10g.68885712A>GCA5528248STOX1c.1916A>G (p.His639Arg)
c.2252A>G (p.His751Arg)
c.463+3602A>G (n.463+3602A>G)
c.663+1253A>G (n.663+1253A>G)
c.1586A>G (p.His529Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.68885712A>TCA376882122STOX1c.1916A>T (p.His639Leu)
c.2252A>T (p.His751Leu)
c.463+3602A>T (n.463+3602A>T)
c.663+1253A>T (n.663+1253A>T)
c.1586A>T (p.His529Leu)
10g.68885713T>ACA376882123STOX1c.1917T>A (p.His639Gln)
c.2253T>A (p.His751Gln)
c.463+3603T>A (n.463+3603T>A)
c.663+1254T>A (n.663+1254T>A)
c.1587T>A (p.His529Gln)
10g.68885713T>CCA470274146STOX1c.1917T>C (p.His639=)
c.2253T>C (p.His751=)
c.463+3603T>C (n.463+3603T>C)
c.663+1254T>C (n.663+1254T>C)
c.1587T>C (p.His529=)
10g.68885713T>GCA376882124STOX1c.1917T>G (p.His639Gln)
c.2253T>G (p.His751Gln)
c.463+3603T>G (n.463+3603T>G)
c.663+1254T>G (n.663+1254T>G)
c.1587T>G (p.His529Gln)
10g.68885714A>CCA376882125STOX1c.1918A>C (p.Ser640Arg)
c.2254A>C (p.Ser752Arg)
c.463+3604A>C (n.463+3604A>C)
c.663+1255A>C (n.663+1255A>C)
c.1588A>C (p.Ser530Arg)
10g.68885714A>GCA376882126STOX1c.1918A>G (p.Ser640Gly)
c.2254A>G (p.Ser752Gly)
c.463+3604A>G (n.463+3604A>G)
c.663+1255A>G (n.663+1255A>G)
c.1588A>G (p.Ser530Gly)
10g.68885714A>TCA376882127STOX1c.1918A>T (p.Ser640Cys)
c.2254A>T (p.Ser752Cys)
c.463+3604A>T (n.463+3604A>T)
c.663+1255A>T (n.663+1255A>T)
c.1588A>T (p.Ser530Cys)
10g.68885715G>ACA376882128STOX1c.1919G>A (p.Ser640Asn)
c.2255G>A (p.Ser752Asn)
c.463+3605G>A (n.463+3605G>A)
c.663+1256G>A (n.663+1256G>A)
c.1589G>A (p.Ser530Asn)
10g.68885715G>CCA5528249STOX1c.1919G>C (p.Ser640Thr)
c.2255G>C (p.Ser752Thr)
c.463+3605G>C (n.463+3605G>C)
c.663+1256G>C (n.663+1256G>C)
c.1589G>C (p.Ser530Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.68885715G=CA1917550099STOX1c.1919G= (p.Ser640=)
c.2255G= (p.Ser752=)
c.463+3605G= (n.463+3605G=)
c.663+1256G= (n.663+1256G=)
c.1589G= (p.Ser530=)
10g.68885715G>TCA376882129STOX1c.1919G>T (p.Ser640Ile)
c.2255G>T (p.Ser752Ile)
c.463+3605G>T (n.463+3605G>T)
c.663+1256G>T (n.663+1256G>T)
c.1589G>T (p.Ser530Ile)
10g.68885716T>ACA376882130STOX1c.1920T>A (p.Ser640Arg)
c.2256T>A (p.Ser752Arg)
c.463+3606T>A (n.463+3606T>A)
c.663+1257T>A (n.663+1257T>A)
c.1590T>A (p.Ser530Arg)
10g.68885716T>CCA470274147STOX1c.1920T>C (p.Ser640=)
c.2256T>C (p.Ser752=)
c.463+3606T>C (n.463+3606T>C)
c.663+1257T>C (n.663+1257T>C)
c.1590T>C (p.Ser530=)
10g.68885716T>GCA376882131STOX1c.1920T>G (p.Ser640Arg)
c.2256T>G (p.Ser752Arg)
c.463+3606T>G (n.463+3606T>G)
c.663+1257T>G (n.663+1257T>G)
c.1590T>G (p.Ser530Arg)
10g.68885716T=CA1917550100STOX1c.1920T= (p.Ser640=)
c.2256T= (p.Ser752=)
c.463+3606T= (n.463+3606T=)
c.663+1257T= (n.663+1257T=)
c.1590T= (p.Ser530=)
10g.68885717C>ACA376882132STOX1c.1921C>A (p.Leu641Met)
c.2257C>A (p.Leu753Met)
c.463+3607C>A (n.463+3607C>A)
c.663+1258C>A (n.663+1258C>A)
c.1591C>A (p.Leu531Met)
10g.68885717C>GCA376882133STOX1c.1921C>G (p.Leu641Val)
c.2257C>G (p.Leu753Val)
c.463+3607C>G (n.463+3607C>G)
c.663+1258C>G (n.663+1258C>G)
c.1591C>G (p.Leu531Val)
10g.68885717C>TCA470274148STOX1c.1921C>T (p.Leu641=)
c.2257C>T (p.Leu753=)
c.463+3607C>T (n.463+3607C>T)
c.663+1258C>T (n.663+1258C>T)
c.1591C>T (p.Leu531=)
 gnomAD v4
10g.68885718_68885720dupCA5528250STOX1c.1922_1924dup (p.Leu641_Pro642insLeu)
c.2258_2260dup (p.Leu753_Pro754insLeu)
c.463+3608_463+3610dup (n.463+3608_463+3610dup)
c.663+1259_663+1261dup (n.663+1259_663+1261dup)
c.1592_1594dup (p.Leu531_Pro532insLeu)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.68885718T>ACA376882136STOX1c.1922T>A (p.Leu641Gln)
c.2258T>A (p.Leu753Gln)
c.463+3608T>A (n.463+3608T>A)
c.663+1259T>A (n.663+1259T>A)
c.1592T>A (p.Leu531Gln)
 gnomAD v4 COSMIC
10g.68885718T>CCA376882135STOX1c.1922T>C (p.Leu641Pro)
c.2258T>C (p.Leu753Pro)
c.463+3608T>C (n.463+3608T>C)
c.663+1259T>C (n.663+1259T>C)
c.1592T>C (p.Leu531Pro)
10g.68885718T>GCA376882134STOX1c.1922T>G (p.Leu641Arg)
c.2258T>G (p.Leu753Arg)
c.463+3608T>G (n.463+3608T>G)
c.663+1259T>G (n.663+1259T>G)
c.1592T>G (p.Leu531Arg)
10g.68885719G>ACA470274149STOX1c.1923G>A (p.Leu641=)
c.2259G>A (p.Leu753=)
c.463+3609G>A (n.463+3609G>A)
c.663+1260G>A (n.663+1260G>A)
c.1593G>A (p.Leu531=)
 gnomAD v4
10g.68885719G>CCA470274150STOX1c.1923G>C (p.Leu641=)
c.2259G>C (p.Leu753=)
c.463+3609G>C (n.463+3609G>C)
c.663+1260G>C (n.663+1260G>C)
c.1593G>C (p.Leu531=)
10g.68885719G>TCA470274151STOX1c.1923G>T (p.Leu641=)
c.2259G>T (p.Leu753=)
c.463+3609G>T (n.463+3609G>T)
c.663+1260G>T (n.663+1260G>T)
c.1593G>T (p.Leu531=)
10g.68885720C>ACA376882137STOX1c.1924C>A (p.Pro642Thr)
c.2260C>A (p.Pro754Thr)
c.463+3610C>A (n.463+3610C>A)
c.663+1261C>A (n.663+1261C>A)
c.1594C>A (p.Pro532Thr)
10g.68885720C>GCA376882139STOX1c.1924C>G (p.Pro642Ala)
c.2260C>G (p.Pro754Ala)
c.463+3610C>G (n.463+3610C>G)
c.663+1261C>G (n.663+1261C>G)
c.1594C>G (p.Pro532Ala)
10g.68885720C>TCA376882138STOX1c.1924C>T (p.Pro642Ser)
c.2260C>T (p.Pro754Ser)
c.463+3610C>T (n.463+3610C>T)
c.663+1261C>T (n.663+1261C>T)
c.1594C>T (p.Pro532Ser)
10g.68885721C>ACA376882140STOX1c.1925C>A (p.Pro642Gln)
c.2261C>A (p.Pro754Gln)
c.463+3611C>A (n.463+3611C>A)
c.663+1262C>A (n.663+1262C>A)
c.1595C>A (p.Pro532Gln)
10g.68885721C>GCA376882142STOX1c.1925C>G (p.Pro642Arg)
c.2261C>G (p.Pro754Arg)
c.463+3611C>G (n.463+3611C>G)
c.663+1262C>G (n.663+1262C>G)
c.1595C>G (p.Pro532Arg)
10g.68885721C>TCA376882141STOX1c.1925C>T (p.Pro642Leu)
c.2261C>T (p.Pro754Leu)
c.463+3611C>T (n.463+3611C>T)
c.663+1262C>T (n.663+1262C>T)
c.1595C>T (p.Pro532Leu)
10g.68885722A=CA1917550101STOX1c.1926A= (p.Pro642=)
c.2262A= (p.Pro754=)
c.463+3612A= (n.463+3612A=)
c.663+1263A= (n.663+1263A=)
c.1596A= (p.Pro532=)
10g.68885722A>CCA470274152STOX1c.1926A>C (p.Pro642=)
c.2262A>C (p.Pro754=)
c.463+3612A>C (n.463+3612A>C)
c.663+1263A>C (n.663+1263A>C)
c.1596A>C (p.Pro532=)
10g.68885722A>GCA470274154STOX1c.1926A>G (p.Pro642=)
c.2262A>G (p.Pro754=)
c.463+3612A>G (n.463+3612A>G)
c.663+1263A>G (n.663+1263A>G)
c.1596A>G (p.Pro532=)
 dbSNP gnomAD v2 gnomAD v4
10g.68885722A>TCA470274153STOX1c.1926A>T (p.Pro642=)
c.2262A>T (p.Pro754=)
c.463+3612A>T (n.463+3612A>T)
c.663+1263A>T (n.663+1263A>T)
c.1596A>T (p.Pro532=)
10g.68885723T>ACA376882143STOX1c.1927T>A (p.Ser643Thr)
c.2263T>A (p.Ser755Thr)
c.463+3613T>A (n.463+3613T>A)
c.663+1264T>A (n.663+1264T>A)
c.1597T>A (p.Ser533Thr)
10g.68885723T>CCA376882144STOX1c.1927T>C (p.Ser643Pro)
c.2263T>C (p.Ser755Pro)
c.463+3613T>C (n.463+3613T>C)
c.663+1264T>C (n.663+1264T>C)
c.1597T>C (p.Ser533Pro)
10g.68885723T>GCA376882145STOX1c.1927T>G (p.Ser643Ala)
c.2263T>G (p.Ser755Ala)
c.463+3613T>G (n.463+3613T>G)
c.663+1264T>G (n.663+1264T>G)
c.1597T>G (p.Ser533Ala)
10g.68885724C>ACA376882146STOX1c.1928C>A (p.Ser643Ter)
c.2264C>A (p.Ser755Ter)
c.463+3614C>A (n.463+3614C>A)
c.663+1265C>A (n.663+1265C>A)
c.1598C>A (p.Ser533Ter)
10g.68885724C>GCA376882147STOX1c.1928C>G (p.Ser643Ter)
c.2264C>G (p.Ser755Ter)
c.463+3614C>G (n.463+3614C>G)
c.663+1265C>G (n.663+1265C>G)
c.1598C>G (p.Ser533Ter)
10g.68885724C>TCA376882148STOX1c.1928C>T (p.Ser643Leu)
c.2264C>T (p.Ser755Leu)
c.463+3614C>T (n.463+3614C>T)
c.663+1265C>T (n.663+1265C>T)
c.1598C>T (p.Ser533Leu)
10g.68885725A>CCA470274155STOX1c.1929A>C (p.Ser643=)
c.2265A>C (p.Ser755=)
c.463+3615A>C (n.463+3615A>C)
c.663+1266A>C (n.663+1266A>C)
c.1599A>C (p.Ser533=)
10g.68885725A>GCA470274156STOX1c.1929A>G (p.Ser643=)
c.2265A>G (p.Ser755=)
c.463+3615A>G (n.463+3615A>G)
c.663+1266A>G (n.663+1266A>G)
c.1599A>G (p.Ser533=)
10g.68885725A>TCA470274157STOX1c.1929A>T (p.Ser643=)
c.2265A>T (p.Ser755=)
c.463+3615A>T (n.463+3615A>T)
c.663+1266A>T (n.663+1266A>T)
c.1599A>T (p.Ser533=)
10g.68885726C>ACA470274158STOX1c.1930C>A (p.Arg644=)
c.2266C>A (p.Arg756=)
c.463+3616C>A (n.463+3616C>A)
c.663+1267C>A (n.663+1267C>A)
c.1600C>A (p.Arg534=)
10g.68885726C=CA1917550102STOX1c.1930C= (p.Arg644=)
c.2266C= (p.Arg756=)
c.463+3616C= (n.463+3616C=)
c.663+1267C= (n.663+1267C=)
c.1600C= (p.Arg534=)
10g.68885726C>GCA376882149STOX1c.1930C>G (p.Arg644Gly)
c.2266C>G (p.Arg756Gly)
c.463+3616C>G (n.463+3616C>G)
c.663+1267C>G (n.663+1267C>G)
c.1600C>G (p.Arg534Gly)
10g.68885726C>TCA5528251STOX1c.1930C>T (p.Arg644Ter)
c.2266C>T (p.Arg756Ter)
c.463+3616C>T (n.463+3616C>T)
c.663+1267C>T (n.663+1267C>T)
c.1600C>T (p.Arg534Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.68885727G>ACA5528252STOX1c.1931G>A (p.Arg644Gln)
c.2267G>A (p.Arg756Gln)
c.463+3617G>A (n.463+3617G>A)
c.663+1268G>A (n.663+1268G>A)
c.1601G>A (p.Arg534Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.68885727G>CCA376882150STOX1c.1931G>C (p.Arg644Pro)
c.2267G>C (p.Arg756Pro)
c.463+3617G>C (n.463+3617G>C)
c.663+1268G>C (n.663+1268G>C)
c.1601G>C (p.Arg534Pro)
10g.68885727G=CA1917550103STOX1c.1931G= (p.Arg644=)
c.2267G= (p.Arg756=)
c.463+3617G= (n.463+3617G=)
c.663+1268G= (n.663+1268G=)
c.1601G= (p.Arg534=)
10g.68885727G>TCA376882151STOX1c.1931G>T (p.Arg644Leu)
c.2267G>T (p.Arg756Leu)
c.463+3617G>T (n.463+3617G>T)
c.663+1268G>T (n.663+1268G>T)
c.1601G>T (p.Arg534Leu)
10g.68885728delCA2609414495STOX1c.1932del (p.Gly645ValfsTer14)
c.2268del (p.Gly757ValfsTer14)
c.463+3618del (n.463+3618del)
c.663+1269del (n.663+1269del)
c.1602del (p.Gly535ValfsTer14)
 gnomAD v4
10g.68885728A>CCA470274159STOX1c.1932A>C (p.Arg644=)
c.2268A>C (p.Arg756=)
c.463+3618A>C (n.463+3618A>C)
c.663+1269A>C (n.663+1269A>C)
c.1602A>C (p.Arg534=)
10g.68885728A>GCA470274160STOX1c.1932A>G (p.Arg644=)
c.2268A>G (p.Arg756=)
c.463+3618A>G (n.463+3618A>G)
c.663+1269A>G (n.663+1269A>G)
c.1602A>G (p.Arg534=)
10g.68885728A>TCA470274161STOX1c.1932A>T (p.Arg644=)
c.2268A>T (p.Arg756=)
c.463+3618A>T (n.463+3618A>T)
c.663+1269A>T (n.663+1269A>T)
c.1602A>T (p.Arg534=)
10g.68885729G>ACA376882154STOX1c.1933G>A (p.Gly645Ser)
c.2269G>A (p.Gly757Ser)
c.463+3619G>A (n.463+3619G>A)
c.663+1270G>A (n.663+1270G>A)
c.1603G>A (p.Gly535Ser)
 dbSNP
10g.68885729G>CCA376882153STOX1c.1933G>C (p.Gly645Arg)
c.2269G>C (p.Gly757Arg)
c.463+3619G>C (n.463+3619G>C)
c.663+1270G>C (n.663+1270G>C)
c.1603G>C (p.Gly535Arg)
10g.68885729G=CA1917550104STOX1c.1933G= (p.Gly645=)
c.2269G= (p.Gly757=)
c.463+3619G= (n.463+3619G=)
c.663+1270G= (n.663+1270G=)
c.1603G= (p.Gly535=)
10g.68885729G>TCA376882152STOX1c.1933G>T (p.Gly645Cys)
c.2269G>T (p.Gly757Cys)
c.463+3619G>T (n.463+3619G>T)
c.663+1270G>T (n.663+1270G>T)
c.1603G>T (p.Gly535Cys)
10g.68885730G>ACA376882155STOX1c.1934G>A (p.Gly645Asp)
c.2270G>A (p.Gly757Asp)
c.463+3620G>A (n.463+3620G>A)
c.663+1271G>A (n.663+1271G>A)
c.1604G>A (p.Gly535Asp)
10g.68885730G>CCA376882156STOX1c.1934G>C (p.Gly645Ala)
c.2270G>C (p.Gly757Ala)
c.463+3620G>C (n.463+3620G>C)
c.663+1271G>C (n.663+1271G>C)
c.1604G>C (p.Gly535Ala)
10g.68885730G=CA1917550105STOX1c.1934G= (p.Gly645=)
c.2270G= (p.Gly757=)
c.463+3620G= (n.463+3620G=)
c.663+1271G= (n.663+1271G=)
c.1604G= (p.Gly535=)
10g.68885730G>TCA5528253STOX1c.1934G>T (p.Gly645Val)
c.2270G>T (p.Gly757Val)
c.463+3620G>T (n.463+3620G>T)
c.663+1271G>T (n.663+1271G>T)
c.1604G>T (p.Gly535Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.68885731T>ACA470274162STOX1c.1935T>A (p.Gly645=)
c.2271T>A (p.Gly757=)
c.463+3621T>A (n.463+3621T>A)
c.663+1272T>A (n.663+1272T>A)
c.1605T>A (p.Gly535=)
10g.68885731T>CCA470274163STOX1c.1935T>C (p.Gly645=)
c.2271T>C (p.Gly757=)
c.463+3621T>C (n.463+3621T>C)
c.663+1272T>C (n.663+1272T>C)
c.1605T>C (p.Gly535=)
10g.68885731T>GCA5528254STOX1c.1935T>G (p.Gly645=)
c.2271T>G (p.Gly757=)
c.463+3621T>G (n.463+3621T>G)
c.663+1272T>G (n.663+1272T>G)
c.1605T>G (p.Gly535=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.68885731T=CA1917550106STOX1c.1935T= (p.Gly645=)
c.2271T= (p.Gly757=)
c.463+3621T= (n.463+3621T=)
c.663+1272T= (n.663+1272T=)
c.1605T= (p.Gly535=)
10g.68885732G>ACA376882157STOX1c.1936G>A (p.Ala646Thr)
c.2272G>A (p.Ala758Thr)
c.463+3622G>A (n.463+3622G>A)
c.663+1273G>A (n.663+1273G>A)
c.1606G>A (p.Ala536Thr)
10g.68885732G>CCA376882158STOX1c.1936G>C (p.Ala646Pro)
c.2272G>C (p.Ala758Pro)
c.463+3622G>C (n.463+3622G>C)
c.663+1273G>C (n.663+1273G>C)
c.1606G>C (p.Ala536Pro)
10g.68885732G>TCA376882159STOX1c.1936G>T (p.Ala646Ser)
c.2272G>T (p.Ala758Ser)
c.463+3622G>T (n.463+3622G>T)
c.663+1273G>T (n.663+1273G>T)
c.1606G>T (p.Ala536Ser)
 gnomAD v4
10g.68885732_68885735delinsGCCTCA1917550107STOX1c.1936_1939delinsGCCT (p.Ala646=)
c.2272_2275delinsGCCT (p.Ala758=)
c.463+3622_463+3625delinsGCCT (n.463+3622_463+3625delinsGCCT)
c.663+1273_663+1276delinsGCCT (n.663+1273_663+1276delinsGCCT)
c.1606_1609delinsGCCT (p.Ala536=)
10g.68885733C>ACA376882160STOX1c.1937C>A (p.Ala646Asp)
c.2273C>A (p.Ala758Asp)
c.463+3623C>A (n.463+3623C>A)
c.663+1274C>A (n.663+1274C>A)
c.1607C>A (p.Ala536Asp)
10g.68885733C=CA1917550108STOX1c.1937C= (p.Ala646=)
c.2273C= (p.Ala758=)
c.463+3623C= (n.463+3623C=)
c.663+1274C= (n.663+1274C=)
c.1607C= (p.Ala536=)
10g.68885733C>GCA208268453STOX1c.1937C>G (p.Ala646Gly)
c.2273C>G (p.Ala758Gly)
c.463+3623C>G (n.463+3623C>G)
c.663+1274C>G (n.663+1274C>G)
c.1607C>G (p.Ala536Gly)
 dbSNP
10g.68885733C>TCA208268462STOX1c.1937C>T (p.Ala646Val)
c.2273C>T (p.Ala758Val)
c.463+3623C>T (n.463+3623C>T)
c.663+1274C>T (n.663+1274C>T)
c.1607C>T (p.Ala536Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.68885736_68885738dupCA1917550109STOX1c.1940_1942dup (p.Ser647_Phe648insSer)
c.2276_2278dup (p.Ser759_Phe760insSer)
c.463+3626_463+3628dup (n.463+3626_463+3628dup)
c.663+1277_663+1279dup (n.663+1277_663+1279dup)
c.1610_1612dup (p.Ser537_Phe538insSer)
 dbSNP
10g.68885736_68885738delCA5528255STOX1c.1940_1942del (p.Ser647del)
c.2276_2278del (p.Ser759del)
c.463+3626_463+3628del (n.463+3626_463+3628del)
c.663+1277_663+1279del (n.663+1277_663+1279del)
c.1610_1612del (p.Ser537del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.68885734C>ACA470274164STOX1c.1938C>A (p.Ala646=)
c.2274C>A (p.Ala758=)
c.463+3624C>A (n.463+3624C>A)
c.663+1275C>A (n.663+1275C>A)
c.1608C>A (p.Ala536=)
10g.68885734C>GCA470274165STOX1c.1938C>G (p.Ala646=)
c.2274C>G (p.Ala758=)
c.463+3624C>G (n.463+3624C>G)
c.663+1275C>G (n.663+1275C>G)
c.1608C>G (p.Ala536=)
10g.68885734C>TCA470274166STOX1c.1938C>T (p.Ala646=)
c.2274C>T (p.Ala758=)
c.463+3624C>T (n.463+3624C>T)
c.663+1275C>T (n.663+1275C>T)
c.1608C>T (p.Ala536=)
10g.68885735T>ACA376882163STOX1c.1939T>A (p.Ser647Thr)
c.2275T>A (p.Ser759Thr)
c.463+3625T>A (n.463+3625T>A)
c.663+1276T>A (n.663+1276T>A)
c.1609T>A (p.Ser537Thr)
10g.68885735T>CCA376882162STOX1c.1939T>C (p.Ser647Pro)
c.2275T>C (p.Ser759Pro)
c.463+3625T>C (n.463+3625T>C)
c.663+1276T>C (n.663+1276T>C)
c.1609T>C (p.Ser537Pro)
10g.68885735T>GCA376882161STOX1c.1939T>G (p.Ser647Ala)
c.2275T>G (p.Ser759Ala)
c.463+3625T>G (n.463+3625T>G)
c.663+1276T>G (n.663+1276T>G)
c.1609T>G (p.Ser537Ala)
10g.68885736C>ACA376882164STOX1c.1940C>A (p.Ser647Tyr)
c.2276C>A (p.Ser759Tyr)
c.463+3626C>A (n.463+3626C>A)
c.663+1277C>A (n.663+1277C>A)
c.1610C>A (p.Ser537Tyr)
 gnomAD v4
10g.68885736C=CA1917550110STOX1c.1940C= (p.Ser647=)
c.2276C= (p.Ser759=)
c.463+3626C= (n.463+3626C=)
c.663+1277C= (n.663+1277C=)
c.1610C= (p.Ser537=)
10g.68885736C>GCA376882165STOX1c.1940C>G (p.Ser647Cys)
c.2276C>G (p.Ser759Cys)
c.463+3626C>G (n.463+3626C>G)
c.663+1277C>G (n.663+1277C>G)
c.1610C>G (p.Ser537Cys)
 dbSNP gnomAD v3 gnomAD v4
10g.68885736C>TCA376882166STOX1c.1940C>T (p.Ser647Phe)
c.2276C>T (p.Ser759Phe)
c.463+3626C>T (n.463+3626C>T)
c.663+1277C>T (n.663+1277C>T)
c.1610C>T (p.Ser537Phe)
10g.68885736_68885737delinsTTCA645550218STOX1c.1940_1941delinsTT (p.Ser647Phe)
c.2276_2277delinsTT (p.Ser759Phe)
c.463+3626_463+3627delinsTT (n.463+3626_463+3627delinsTT)
c.663+1277_663+1278delinsTT (n.663+1277_663+1278delinsTT)
c.1610_1611delinsTT (p.Ser537Phe)
 COSMIC
10g.68885737C>ACA470274167STOX1c.1941C>A (p.Ser647=)
c.2277C>A (p.Ser759=)
c.463+3627C>A (n.463+3627C>A)
c.663+1278C>A (n.663+1278C>A)
c.1611C>A (p.Ser537=)
10g.68885737C>GCA470274168STOX1c.1941C>G (p.Ser647=)
c.2277C>G (p.Ser759=)
c.463+3627C>G (n.463+3627C>G)
c.663+1278C>G (n.663+1278C>G)
c.1611C>G (p.Ser537=)
10g.68885737C>TCA470274169STOX1c.1941C>T (p.Ser647=)
c.2277C>T (p.Ser759=)
c.463+3627C>T (n.463+3627C>T)
c.663+1278C>T (n.663+1278C>T)
c.1611C>T (p.Ser537=)
10g.68885738T>ACA376882167STOX1c.1942T>A (p.Phe648Ile)
c.2278T>A (p.Phe760Ile)
c.463+3628T>A (n.463+3628T>A)
c.663+1279T>A (n.663+1279T>A)
c.1612T>A (p.Phe538Ile)
10g.68885738T>CCA376882168STOX1c.1942T>C (p.Phe648Leu)
c.2278T>C (p.Phe760Leu)
c.463+3628T>C (n.463+3628T>C)
c.663+1279T>C (n.663+1279T>C)
c.1612T>C (p.Phe538Leu)
10g.68885738T>GCA376882169STOX1c.1942T>G (p.Phe648Val)
c.2278T>G (p.Phe760Val)
c.463+3628T>G (n.463+3628T>G)
c.663+1279T>G (n.663+1279T>G)
c.1612T>G (p.Phe538Val)
10g.68885739T>ACA376882172STOX1c.1943T>A (p.Phe648Tyr)
c.2279T>A (p.Phe760Tyr)
c.463+3629T>A (n.463+3629T>A)
c.663+1280T>A (n.663+1280T>A)
c.1613T>A (p.Phe538Tyr)
10g.68885739T>CCA376882170STOX1c.1943T>C (p.Phe648Ser)
c.2279T>C (p.Phe760Ser)
c.463+3629T>C (n.463+3629T>C)
c.663+1280T>C (n.663+1280T>C)
c.1613T>C (p.Phe538Ser)
10g.68885739T>GCA376882171STOX1c.1943T>G (p.Phe648Cys)
c.2279T>G (p.Phe760Cys)
c.463+3629T>G (n.463+3629T>G)
c.663+1280T>G (n.663+1280T>G)
c.1613T>G (p.Phe538Cys)

Number of alleles fetched