Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.68885637del | CA470274105 | STOX1 | c.1841del (p.Asn614MetfsTer3) c.2177del (p.Asn726MetfsTer3) c.463+3527del (n.463+3527del) c.663+1178del (n.663+1178del) c.1511del (p.Asn504MetfsTer3) | COSMIC |
10 | g.68885636A>C | CA376881946 | STOX1 | c.1840A>C (p.Asn614His) c.2176A>C (p.Asn726His) c.463+3526A>C (n.463+3526A>C) c.663+1177A>C (n.663+1177A>C) c.1510A>C (p.Asn504His) | |
10 | g.68885636A>G | CA376881947 | STOX1 | c.1840A>G (p.Asn614Asp) c.2176A>G (p.Asn726Asp) c.463+3526A>G (n.463+3526A>G) c.663+1177A>G (n.663+1177A>G) c.1510A>G (p.Asn504Asp) | |
10 | g.68885636A>T | CA376881948 | STOX1 | c.1840A>T (p.Asn614Tyr) c.2176A>T (p.Asn726Tyr) c.463+3526A>T (n.463+3526A>T) c.663+1177A>T (n.663+1177A>T) c.1510A>T (p.Asn504Tyr) | |
10 | g.68885637A>C | CA376881949 | STOX1 | c.1841A>C (p.Asn614Thr) c.2177A>C (p.Asn726Thr) c.463+3527A>C (n.463+3527A>C) c.663+1178A>C (n.663+1178A>C) c.1511A>C (p.Asn504Thr) | gnomAD v4 |
10 | g.68885637A>G | CA376881950 | STOX1 | c.1841A>G (p.Asn614Ser) c.2177A>G (p.Asn726Ser) c.463+3527A>G (n.463+3527A>G) c.663+1178A>G (n.663+1178A>G) c.1511A>G (p.Asn504Ser) | |
10 | g.68885637A>T | CA376881951 | STOX1 | c.1841A>T (p.Asn614Ile) c.2177A>T (p.Asn726Ile) c.463+3527A>T (n.463+3527A>T) c.663+1178A>T (n.663+1178A>T) c.1511A>T (p.Asn504Ile) | |
10 | g.68885638T>A | CA376881952 | STOX1 | c.1842T>A (p.Asn614Lys) c.2178T>A (p.Asn726Lys) c.463+3528T>A (n.463+3528T>A) c.663+1179T>A (n.663+1179T>A) c.1512T>A (p.Asn504Lys) | |
10 | g.68885638T>C | CA470274107 | STOX1 | c.1842T>C (p.Asn614=) c.2178T>C (p.Asn726=) c.463+3528T>C (n.463+3528T>C) c.663+1179T>C (n.663+1179T>C) c.1512T>C (p.Asn504=) | |
10 | g.68885638T>G | CA376881953 | STOX1 | c.1842T>G (p.Asn614Lys) c.2178T>G (p.Asn726Lys) c.463+3528T>G (n.463+3528T>G) c.663+1179T>G (n.663+1179T>G) c.1512T>G (p.Asn504Lys) | dbSNP |
10 | g.68885638T= | CA1917550065 | STOX1 | c.1842T= (p.Asn614=) c.2178T= (p.Asn726=) c.463+3528T= (n.463+3528T=) c.663+1179T= (n.663+1179T=) c.1512T= (p.Asn504=) | |
10 | g.68885639G>A | CA376881954 | STOX1 | c.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 |
10 | g.68885639G>C | CA376881955 | STOX1 | c.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) | |
10 | g.68885639G= | CA1917550066 | STOX1 | c.1843G= (p.Glu615=) c.2179G= (p.Glu727=) c.463+3529G= (n.463+3529G=) c.663+1180G= (n.663+1180G=) c.1513G= (p.Glu505=) | |
10 | g.68885639G>T | CA376881956 | STOX1 | c.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) | |
10 | g.68885640A>C | CA376881959 | STOX1 | c.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) | |
10 | g.68885640A>G | CA376881958 | STOX1 | c.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) | |
10 | g.68885640A>T | CA376881957 | STOX1 | c.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) | |
10 | g.68885641G>A | CA5528237 | STOX1 | c.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 |
10 | g.68885641G>C | CA376881960 | STOX1 | c.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) | |
10 | g.68885641G= | CA1917550067 | STOX1 | c.1845G= (p.Glu615=) c.2181G= (p.Glu727=) c.463+3531G= (n.463+3531G=) c.663+1182G= (n.663+1182G=) c.1515G= (p.Glu505=) | |
10 | g.68885641G>T | CA376881961 | STOX1 | c.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 |
10 | g.68885642G>A | CA376881962 | STOX1 | c.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) | |
10 | g.68885642G>C | CA376881963 | STOX1 | c.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 |
10 | g.68885642G= | CA1917550068 | STOX1 | c.1846G= (p.Val616=) c.2182G= (p.Val728=) c.463+3532G= (n.463+3532G=) c.663+1183G= (n.663+1183G=) c.1516G= (p.Val506=) | |
10 | g.68885642G>T | CA376881964 | STOX1 | c.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 |
10 | g.68885643T>A | CA376881965 | STOX1 | c.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) | |
10 | g.68885643T>C | CA208268325 | STOX1 | c.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 |
10 | g.68885643T>G | CA376881966 | STOX1 | c.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) | |
10 | g.68885643T= | CA1917550069 | STOX1 | c.1847T= (p.Val616=) c.2183T= (p.Val728=) c.463+3533T= (n.463+3533T=) c.663+1184T= (n.663+1184T=) c.1517T= (p.Val506=) | |
10 | g.68885644A>C | CA470274108 | STOX1 | c.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=) | |
10 | g.68885644A>G | CA470274109 | STOX1 | c.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=) | |
10 | g.68885644A>T | CA470274110 | STOX1 | c.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=) | |
10 | g.68885645A>C | CA376881967 | STOX1 | c.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) | |
10 | g.68885645A>G | CA376881968 | STOX1 | c.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) | |
10 | g.68885645A>T | CA376881969 | STOX1 | c.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) | |
10 | g.68885646T>A | CA376881970 | STOX1 | c.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) | |
10 | g.68885646T>C | CA376881971 | STOX1 | c.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 |
10 | g.68885646T>G | CA376881972 | STOX1 | c.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) | |
10 | g.68885647T>A | CA470274111 | STOX1 | c.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=) | |
10 | g.68885647T>C | CA470274112 | STOX1 | c.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=) | |
10 | g.68885647T>G | CA376881973 | STOX1 | c.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) | |
10 | g.68885648C>A | CA376881975 | STOX1 | c.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) | |
10 | g.68885648C= | CA1917550070 | STOX1 | c.1852C= (p.Pro618=) c.2188C= (p.Pro730=) c.463+3538C= (n.463+3538C=) c.663+1189C= (n.663+1189C=) c.1522C= (p.Pro508=) | |
10 | g.68885648C>G | CA376881974 | STOX1 | c.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) | |
10 | g.68885648C>T | CA208268328 | STOX1 | c.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 |
10 | g.68885649C>A | CA376881976 | STOX1 | c.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) | |
10 | g.68885649C>G | CA376881977 | STOX1 | c.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) | |
10 | g.68885649C>T | CA376881978 | STOX1 | c.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) | |
10 | g.68885650T>A | CA470274113 | STOX1 | c.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=) | |
10 | g.68885650T>C | CA470274114 | STOX1 | c.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=) | |
10 | g.68885650T>G | CA470274115 | STOX1 | c.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=) | |
10 | g.68885651G>A | CA376881979 | STOX1 | c.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) | |
10 | g.68885651G>C | CA376881980 | STOX1 | c.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) | |
10 | g.68885651G>T | CA376881981 | STOX1 | c.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) | |
10 | g.68885652A>C | CA376881982 | STOX1 | c.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) | |
10 | g.68885652A>G | CA376881983 | STOX1 | c.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) | |
10 | g.68885652A>T | CA376881984 | STOX1 | c.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) | |
10 | g.68885653A>C | CA376881985 | STOX1 | c.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) | |
10 | g.68885653A>G | CA470274116 | STOX1 | c.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=) | |
10 | g.68885653A>T | CA376881986 | STOX1 | c.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) | |
10 | g.68885654G>A | CA376881989 | STOX1 | c.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) | |
10 | g.68885654G>C | CA376881988 | STOX1 | c.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) | |
10 | g.68885654G>T | CA376881987 | STOX1 | c.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) | |
10 | g.68885655T>A | CA376881990 | STOX1 | c.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) | |
10 | g.68885655T>C | CA376881991 | STOX1 | c.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) | |
10 | g.68885655T>G | CA376881992 | STOX1 | c.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) | |
10 | g.68885655T= | CA1917550071 | STOX1 | c.1859T= (p.Val620=) c.2195T= (p.Val732=) c.463+3545T= (n.463+3545T=) c.663+1196T= (n.663+1196T=) c.1529T= (p.Val510=) | |
10 | g.68885656C>A | CA470274117 | STOX1 | c.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=) | |
10 | g.68885656C>G | CA470274118 | STOX1 | c.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=) | |
10 | g.68885656C>T | CA470274119 | STOX1 | c.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=) | |
10 | g.68885656dup | CA5528238 | STOX1 | c.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 |
10 | g.68885657T>A | CA376881993 | STOX1 | c.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) | |
10 | g.68885657T>C | CA470274120 | STOX1 | c.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 |
10 | g.68885657T>G | CA376881994 | STOX1 | c.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 |
10 | g.68885657T= | CA1917550072 | STOX1 | c.1861T= (p.Leu621=) c.2197T= (p.Leu733=) c.463+3547T= (n.463+3547T=) c.663+1198T= (n.663+1198T=) c.1531T= (p.Leu511=) | |
10 | g.68885658T>A | CA376881995 | STOX1 | c.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) | |
10 | g.68885658T>C | CA376881996 | STOX1 | c.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) | |
10 | g.68885658T>G | CA376881997 | STOX1 | c.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) | |
10 | g.68885659G>A | CA470274121 | STOX1 | c.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 |
10 | g.68885659G>C | CA5528239 | STOX1 | c.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 |
10 | g.68885659G= | CA1917550073 | STOX1 | c.1863G= (p.Leu621=) c.2199G= (p.Leu733=) c.463+3549G= (n.463+3549G=) c.663+1200G= (n.663+1200G=) c.1533G= (p.Leu511=) | |
10 | g.68885659G>T | CA376881998 | STOX1 | c.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) | |
10 | g.68885660A>C | CA470274122 | STOX1 | c.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=) | |
10 | g.68885660A>G | CA376881999 | STOX1 | c.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) | |
10 | g.68885660A>T | CA376882000 | STOX1 | c.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) | |
10 | g.68885661G>A | CA376882003 | STOX1 | c.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) | |
10 | g.68885661G>C | CA376882001 | STOX1 | c.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) | |
10 | g.68885661G>T | CA376882002 | STOX1 | c.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) | |
10 | g.68885662G>A | CA470274123 | STOX1 | c.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=) | |
10 | g.68885662G>C | CA376882004 | STOX1 | c.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) | |
10 | g.68885662G>T | CA376882005 | STOX1 | c.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) | |
10 | g.68885663A>C | CA376882006 | STOX1 | c.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) | |
10 | g.68885663A>G | CA376882007 | STOX1 | c.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) | |
10 | g.68885663A>T | CA376882008 | STOX1 | c.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) | |
10 | g.68885664A>C | CA376882009 | STOX1 | c.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 |
10 | g.68885664A>G | CA376882010 | STOX1 | c.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 |
10 | g.68885664A>T | CA376882011 | STOX1 | c.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) | |
10 | g.68885665A>C | CA376882012 | STOX1 | c.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) | |
10 | g.68885665A>G | CA470274124 | STOX1 | c.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=) | |
10 | g.68885665A>T | CA376882013 | STOX1 | c.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) | |
10 | g.68885666A>C | CA376882014 | STOX1 | c.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) | |
10 | g.68885666A>G | CA376882015 | STOX1 | c.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) | |
10 | g.68885666A>T | CA376882016 | STOX1 | c.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) | |
10 | g.68885667G>A | CA376882018 | STOX1 | c.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) | |
10 | g.68885667G>C | CA376882019 | STOX1 | c.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) | |
10 | g.68885667G>T | CA376882017 | STOX1 | c.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 |
10 | g.68885668T>A | CA376882020 | STOX1 | c.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) | |
10 | g.68885668T>C | CA470274125 | STOX1 | c.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=) | |
10 | g.68885668T>G | CA376882021 | STOX1 | c.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) | |
10 | g.68885669C>A | CA376882022 | STOX1 | c.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 |
10 | g.68885669C>G | CA376882023 | STOX1 | c.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) | |
10 | g.68885669C>T | CA376882024 | STOX1 | c.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) | |
10 | g.68885670A>C | CA376882025 | STOX1 | c.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) | |
10 | g.68885670A>G | CA376882026 | STOX1 | c.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) | |
10 | g.68885670A>T | CA376882027 | STOX1 | c.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 |
10 | g.68885671T>A | CA376882029 | STOX1 | c.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) | |
10 | g.68885671T>C | CA470274126 | STOX1 | c.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=) | |
10 | g.68885671T>G | CA376882028 | STOX1 | c.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) | |
10 | g.68885672T>A | CA376882030 | STOX1 | c.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) | |
10 | g.68885672T>C | CA5528240 | STOX1 | c.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 |
10 | g.68885672T>G | CA376882031 | STOX1 | c.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 |
10 | g.68885672T= | CA1917550074 | STOX1 | c.1876T= (p.Ser626=) c.2212T= (p.Ser738=) c.463+3562T= (n.463+3562T=) c.663+1213T= (n.663+1213T=) c.1546T= (p.Ser516=) | |
10 | g.68885673C>A | CA376882032 | STOX1 | c.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) | |
10 | g.68885673C= | CA1917550075 | STOX1 | c.1877C= (p.Ser626=) c.2213C= (p.Ser738=) c.463+3563C= (n.463+3563C=) c.663+1214C= (n.663+1214C=) c.1547C= (p.Ser516=) | |
10 | g.68885673C>G | CA376882033 | STOX1 | c.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) | |
10 | g.68885673C>T | CA376882034 | STOX1 | c.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 |
10 | g.68885674C>A | CA470274127 | STOX1 | c.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 |
10 | g.68885674C= | CA1917550076 | STOX1 | c.1878C= (p.Ser626=) c.2214C= (p.Ser738=) c.463+3564C= (n.463+3564C=) c.663+1215C= (n.663+1215C=) c.1548C= (p.Ser516=) | |
10 | g.68885674C>G | CA470274128 | STOX1 | c.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=) | |
10 | g.68885674C>T | CA208268350 | STOX1 | c.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 |
10 | g.68885675_68885677del | CA2741104326 | STOX1 | c.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) | |
10 | g.68885675C>A | CA376882037 | STOX1 | c.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) | |
10 | g.68885675C= | CA1917550077 | STOX1 | c.1879C= (p.His627=) c.2215C= (p.His739=) c.463+3565C= (n.463+3565C=) c.663+1216C= (n.663+1216C=) c.1549C= (p.His517=) | |
10 | g.68885675C>G | CA376882035 | STOX1 | c.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) | |
10 | g.68885675C>T | CA376882036 | STOX1 | c.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 |
10 | g.68885676A>C | CA376882038 | STOX1 | c.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 |
10 | g.68885676A>G | CA376882039 | STOX1 | c.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) | |
10 | g.68885676A>T | CA376882040 | STOX1 | c.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) | |
10 | g.68885677C>A | CA376882041 | STOX1 | c.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) | |
10 | g.68885677C>G | CA376882042 | STOX1 | c.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) | |
10 | g.68885677C>T | CA470274129 | STOX1 | c.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 |
10 | g.68885678T>A | CA376882043 | STOX1 | c.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) | |
10 | g.68885678T>C | CA376882044 | STOX1 | c.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) | |
10 | g.68885678T>G | CA376882045 | STOX1 | c.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 |
10 | g.68885678T= | CA1917550078 | STOX1 | c.1882T= (p.Phe628=) c.2218T= (p.Phe740=) c.463+3568T= (n.463+3568T=) c.663+1219T= (n.663+1219T=) c.1552T= (p.Phe518=) | |
10 | g.68885679T>A | CA376882046 | STOX1 | c.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) | |
10 | g.68885679T>C | CA376882047 | STOX1 | c.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 |
10 | g.68885679T>G | CA5528241 | STOX1 | c.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 |
10 | g.68885679T= | CA1917550079 | STOX1 | c.1883T= (p.Phe628=) c.2219T= (p.Phe740=) c.463+3569T= (n.463+3569T=) c.663+1220T= (n.663+1220T=) c.1553T= (p.Phe518=) | |
10 | g.68885680T>A | CA376882048 | STOX1 | c.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) | |
10 | g.68885680T>C | CA470274130 | STOX1 | c.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 |
10 | g.68885680T>G | CA376882049 | STOX1 | c.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 |
10 | g.68885680T= | CA1917550080 | STOX1 | c.1884T= (p.Phe628=) c.2220T= (p.Phe740=) c.463+3570T= (n.463+3570T=) c.663+1221T= (n.663+1221T=) c.1554T= (p.Phe518=) | |
10 | g.68885681G>A | CA376882052 | STOX1 | c.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) | |
10 | g.68885681G>C | CA376882050 | STOX1 | c.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) | |
10 | g.68885681G>T | CA376882051 | STOX1 | c.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) | |
10 | g.68885682A>C | CA376882053 | STOX1 | c.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) | |
10 | g.68885682A>G | CA376882054 | STOX1 | c.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) | |
10 | g.68885682A>T | CA376882055 | STOX1 | c.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) | |
10 | g.68885683C>A | CA376882056 | STOX1 | c.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) | |
10 | g.68885683C= | CA1917550081 | STOX1 | c.1887C= (p.Asp629=) c.2223C= (p.Asp741=) c.463+3573C= (n.463+3573C=) c.663+1224C= (n.663+1224C=) c.1557C= (p.Asp519=) | |
10 | g.68885683C>G | CA5528242 | STOX1 | c.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 |
10 | g.68885683C>T | CA470274131 | STOX1 | c.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=) | |
10 | g.68885684A>C | CA376882057 | STOX1 | c.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) | |
10 | g.68885684A>G | CA376882058 | STOX1 | c.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) | |
10 | g.68885684A>T | CA376882059 | STOX1 | c.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) | |
10 | g.68885685A= | CA1917550082 | STOX1 | c.1889A= (p.Lys630=) c.2225A= (p.Lys742=) c.463+3575A= (n.463+3575A=) c.663+1226A= (n.663+1226A=) c.1559A= (p.Lys520=) | |
10 | g.68885685A>C | CA376882060 | STOX1 | c.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) | |
10 | g.68885685A>G | CA376882062 | STOX1 | c.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 |
10 | g.68885685A>T | CA376882061 | STOX1 | c.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) | |
10 | g.68885686A>C | CA376882063 | STOX1 | c.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) | |
10 | g.68885686A>G | CA470274132 | STOX1 | c.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=) | |
10 | g.68885686A>T | CA376882064 | STOX1 | c.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) | |
10 | g.68885687T>A | CA376882065 | STOX1 | c.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) | |
10 | g.68885687T>C | CA470274133 | STOX1 | c.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=) | |
10 | g.68885687T>G | CA376882066 | STOX1 | c.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) | |
10 | g.68885688T>A | CA376882067 | STOX1 | c.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) | |
10 | g.68885688T>C | CA376882069 | STOX1 | c.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 |
10 | g.68885688T>G | CA376882068 | STOX1 | c.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) | |
10 | g.68885689A>C | CA376882070 | STOX1 | c.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 |
10 | g.68885689A>G | CA470274134 | STOX1 | c.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=) | |
10 | g.68885689A>T | CA376882071 | STOX1 | c.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) | |
10 | g.68885690G>A | CA376882072 | STOX1 | c.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) | |
10 | g.68885690G>C | CA376882073 | STOX1 | c.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) | |
10 | g.68885690G>T | CA376882074 | STOX1 | c.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) | |
10 | g.68885691G>A | CA376882075 | STOX1 | c.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 |
10 | g.68885691G>C | CA376882076 | STOX1 | c.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) | |
10 | g.68885691G= | CA1917550083 | STOX1 | c.1895G= (p.Gly632=) c.2231G= (p.Gly744=) c.463+3581G= (n.463+3581G=) c.663+1232G= (n.663+1232G=) c.1565G= (p.Gly522=) | |
10 | g.68885691G>T | CA376882077 | STOX1 | c.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 |
10 | g.68885692G>A | CA470274135 | STOX1 | c.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 |
10 | g.68885692G>C | CA470274136 | STOX1 | c.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=) | |
10 | g.68885692G= | CA1917550084 | STOX1 | c.1896G= (p.Gly632=) c.2232G= (p.Gly744=) c.463+3582G= (n.463+3582G=) c.663+1233G= (n.663+1233G=) c.1566G= (p.Gly522=) | |
10 | g.68885692G>T | CA470274137 | STOX1 | c.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=) | |
10 | g.68885693G>A | CA5528243 | STOX1 | c.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 |
10 | g.68885693G>C | CA376882078 | STOX1 | c.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) | |
10 | g.68885693G= | CA1917550085 | STOX1 | c.1897G= (p.Glu633=) c.2233G= (p.Glu745=) c.463+3583G= (n.463+3583G=) c.663+1234G= (n.663+1234G=) c.1567G= (p.Glu523=) | |
10 | g.68885693G>T | CA376882079 | STOX1 | c.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) | |
10 | g.68885694A>C | CA376882080 | STOX1 | c.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) | |
10 | g.68885694A>G | CA376882082 | STOX1 | c.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) | |
10 | g.68885694A>T | CA376882081 | STOX1 | c.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) | |
10 | g.68885695G>A | CA470274138 | STOX1 | c.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=) | |
10 | g.68885695G>C | CA376882083 | STOX1 | c.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 |
10 | g.68885695G= | CA1917550086 | STOX1 | c.1899G= (p.Glu633=) c.2235G= (p.Glu745=) c.463+3585G= (n.463+3585G=) c.663+1236G= (n.663+1236G=) c.1569G= (p.Glu523=) | |
10 | g.68885695G>T | CA376882084 | STOX1 | c.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) | |
10 | g.68885696A>C | CA376882085 | STOX1 | c.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) | |
10 | g.68885696A>G | CA376882086 | STOX1 | c.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) | |
10 | g.68885696A>T | CA376882087 | STOX1 | c.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) | |
10 | g.68885697C>A | CA376882088 | STOX1 | c.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 |
10 | g.68885697C= | CA1917550088 | STOX1 | c.1901C= (p.Thr634=) c.2237C= (p.Thr746=) c.463+3587C= (n.463+3587C=) c.663+1238C= (n.663+1238C=) c.1571C= (p.Thr524=) | |
10 | g.68885697C>G | CA376882089 | STOX1 | c.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) | |
10 | g.68885697C>T | CA376882090 | STOX1 | c.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 |
10 | g.68885697_68885701delinsCCAAA | CA1917550087 | STOX1 | c.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=) | |
10 | g.68885698C>A | CA470274139 | STOX1 | c.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=) | |
10 | g.68885698C= | CA1917550089 | STOX1 | c.1902C= (p.Thr634=) c.2238C= (p.Thr746=) c.463+3588C= (n.463+3588C=) c.663+1239C= (n.663+1239C=) c.1572C= (p.Thr524=) | |
10 | g.68885698C>G | CA5528244 | STOX1 | c.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 |
10 | g.68885698C>T | CA470274140 | STOX1 | c.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=) | |
10 | g.68885700_68885703del | CA667871333 | STOX1 | c.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 |
10 | g.68885699A>C | CA376882091 | STOX1 | c.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) | |
10 | g.68885699A>G | CA376882092 | STOX1 | c.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) | |
10 | g.68885699A>T | CA376882093 | STOX1 | c.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) | |
10 | g.68885700A>C | CA376882094 | STOX1 | c.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) | |
10 | g.68885700A>G | CA376882095 | STOX1 | c.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) | |
10 | g.68885700A>T | CA376882096 | STOX1 | c.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) | |
10 | g.68885701A= | CA1917550090 | STOX1 | c.1905A= (p.Lys635=) c.2241A= (p.Lys747=) c.463+3591A= (n.463+3591A=) c.663+1242A= (n.663+1242A=) c.1575A= (p.Lys525=) | |
10 | g.68885701A>C | CA376882097 | STOX1 | c.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 |
10 | g.68885701A>G | CA470274141 | STOX1 | c.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 |
10 | g.68885701A>T | CA376882098 | STOX1 | c.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) | |
10 | g.68885702C>A | CA376882099 | STOX1 | c.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) | |
10 | g.68885702C>G | CA376882100 | STOX1 | c.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 |
10 | g.68885702C>T | CA376882101 | STOX1 | c.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) | |
10 | g.68885703A= | CA1917550091 | STOX1 | c.1907A= (p.Gln636=) c.2243A= (p.Gln748=) c.463+3593A= (n.463+3593A=) c.663+1244A= (n.663+1244A=) c.1577A= (p.Gln526=) | |
10 | g.68885703A>C | CA376882102 | STOX1 | c.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) | |
10 | g.68885703A>G | CA376882103 | STOX1 | c.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 |
10 | g.68885703A>T | CA376882104 | STOX1 | c.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) | |
10 | g.68885704G>A | CA208268391 | STOX1 | c.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 |
10 | g.68885704G>C | CA376882105 | STOX1 | c.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) | |
10 | g.68885704G= | CA1917550092 | STOX1 | c.1908G= (p.Gln636=) c.2244G= (p.Gln748=) c.463+3594G= (n.463+3594G=) c.663+1245G= (n.663+1245G=) c.1578G= (p.Gln526=) | |
10 | g.68885704G>T | CA376882106 | STOX1 | c.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) | |
10 | g.68885705A>C | CA376882107 | STOX1 | c.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) | |
10 | g.68885705A>G | CA376882108 | STOX1 | c.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) | |
10 | g.68885705A>T | CA376882109 | STOX1 | c.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) | |
10 | g.68885706C>A | CA376882110 | STOX1 | c.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) | |
10 | g.68885706C>G | CA376882112 | STOX1 | c.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) | |
10 | g.68885706C>T | CA376882111 | STOX1 | c.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) | |
10 | g.68885707T>A | CA470274142 | STOX1 | c.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=) | |
10 | g.68885707T>C | CA470274143 | STOX1 | c.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=) | |
10 | g.68885707T>G | CA470274144 | STOX1 | c.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=) | |
10 | g.68885708C>A | CA376882113 | STOX1 | c.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) | |
10 | g.68885708C= | CA1917550093 | STOX1 | c.1912C= (p.Pro638=) c.2248C= (p.Pro750=) c.463+3598C= (n.463+3598C=) c.663+1249C= (n.663+1249C=) c.1582C= (p.Pro528=) | |
10 | g.68885708C>G | CA376882114 | STOX1 | c.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 |
10 | g.68885708C>T | CA376882115 | STOX1 | c.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) | |
10 | g.68885709C>A | CA376882116 | STOX1 | c.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) | |
10 | g.68885709C= | CA1917550094 | STOX1 | c.1913C= (p.Pro638=) c.2249C= (p.Pro750=) c.463+3599C= (n.463+3599C=) c.663+1250C= (n.663+1250C=) c.1583C= (p.Pro528=) | |
10 | g.68885709C>G | CA376882117 | STOX1 | c.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) | |
10 | g.68885709C>T | CA5528245 | STOX1 | c.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 |
10 | g.68885710G>A | CA5528246 | STOX1 | c.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 |
10 | g.68885710G>C | CA470274145 | STOX1 | c.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=) | |
10 | g.68885710G= | CA1917550096 | STOX1 | c.1914G= (p.Pro638=) c.2250G= (p.Pro750=) c.463+3600G= (n.463+3600G=) c.663+1251G= (n.663+1251G=) c.1584G= (p.Pro528=) | |
10 | g.68885710G>T | CA208268394 | STOX1 | c.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 |
10 | g.68885710_68885720delinsGCATAGTCTGC | CA1917550095 | STOX1 | c.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=) | |
10 | g.68885711C>A | CA376882118 | STOX1 | c.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) | |
10 | g.68885711C= | CA1917550097 | STOX1 | c.1915C= (p.His639=) c.2251C= (p.His751=) c.463+3601C= (n.463+3601C=) c.663+1252C= (n.663+1252C=) c.1585C= (p.His529=) | |
10 | g.68885711C>G | CA376882119 | STOX1 | c.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) | |
10 | g.68885711C>T | CA376882120 | STOX1 | c.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 |
10 | g.68885714_68885723del | CA5528247 | STOX1 | c.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 |
10 | g.68885712A= | CA1917550098 | STOX1 | c.1916A= (p.His639=) c.2252A= (p.His751=) c.463+3602A= (n.463+3602A=) c.663+1253A= (n.663+1253A=) c.1586A= (p.His529=) | |
10 | g.68885712A>C | CA376882121 | STOX1 | c.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 |
10 | g.68885712A>G | CA5528248 | STOX1 | c.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 |
10 | g.68885712A>T | CA376882122 | STOX1 | c.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) | |
10 | g.68885713T>A | CA376882123 | STOX1 | c.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) | |
10 | g.68885713T>C | CA470274146 | STOX1 | c.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=) | |
10 | g.68885713T>G | CA376882124 | STOX1 | c.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) | |
10 | g.68885714A>C | CA376882125 | STOX1 | c.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) | |
10 | g.68885714A>G | CA376882126 | STOX1 | c.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) | |
10 | g.68885714A>T | CA376882127 | STOX1 | c.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) | |
10 | g.68885715G>A | CA376882128 | STOX1 | c.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) | |
10 | g.68885715G>C | CA5528249 | STOX1 | c.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 |
10 | g.68885715G= | CA1917550099 | STOX1 | c.1919G= (p.Ser640=) c.2255G= (p.Ser752=) c.463+3605G= (n.463+3605G=) c.663+1256G= (n.663+1256G=) c.1589G= (p.Ser530=) | |
10 | g.68885715G>T | CA376882129 | STOX1 | c.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) | |
10 | g.68885716T>A | CA376882130 | STOX1 | c.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) | |
10 | g.68885716T>C | CA470274147 | STOX1 | c.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=) | |
10 | g.68885716T>G | CA376882131 | STOX1 | c.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) | |
10 | g.68885716T= | CA1917550100 | STOX1 | c.1920T= (p.Ser640=) c.2256T= (p.Ser752=) c.463+3606T= (n.463+3606T=) c.663+1257T= (n.663+1257T=) c.1590T= (p.Ser530=) | |
10 | g.68885717C>A | CA376882132 | STOX1 | c.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) | |
10 | g.68885717C>G | CA376882133 | STOX1 | c.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) | |
10 | g.68885717C>T | CA470274148 | STOX1 | c.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 |
10 | g.68885718_68885720dup | CA5528250 | STOX1 | c.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 |
10 | g.68885718T>A | CA376882136 | STOX1 | c.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 |
10 | g.68885718T>C | CA376882135 | STOX1 | c.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) | |
10 | g.68885718T>G | CA376882134 | STOX1 | c.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) | |
10 | g.68885719G>A | CA470274149 | STOX1 | c.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 |
10 | g.68885719G>C | CA470274150 | STOX1 | c.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=) | |
10 | g.68885719G>T | CA470274151 | STOX1 | c.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=) | |
10 | g.68885720C>A | CA376882137 | STOX1 | c.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) | |
10 | g.68885720C>G | CA376882139 | STOX1 | c.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) | |
10 | g.68885720C>T | CA376882138 | STOX1 | c.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) | |
10 | g.68885721C>A | CA376882140 | STOX1 | c.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) | |
10 | g.68885721C>G | CA376882142 | STOX1 | c.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) | |
10 | g.68885721C>T | CA376882141 | STOX1 | c.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) | |
10 | g.68885722A= | CA1917550101 | STOX1 | c.1926A= (p.Pro642=) c.2262A= (p.Pro754=) c.463+3612A= (n.463+3612A=) c.663+1263A= (n.663+1263A=) c.1596A= (p.Pro532=) | |
10 | g.68885722A>C | CA470274152 | STOX1 | c.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=) | |
10 | g.68885722A>G | CA470274154 | STOX1 | c.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 |
10 | g.68885722A>T | CA470274153 | STOX1 | c.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=) | |
10 | g.68885723T>A | CA376882143 | STOX1 | c.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) | |
10 | g.68885723T>C | CA376882144 | STOX1 | c.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) | |
10 | g.68885723T>G | CA376882145 | STOX1 | c.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) | |
10 | g.68885724C>A | CA376882146 | STOX1 | c.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) | |
10 | g.68885724C>G | CA376882147 | STOX1 | c.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) | |
10 | g.68885724C>T | CA376882148 | STOX1 | c.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) | |
10 | g.68885725A>C | CA470274155 | STOX1 | c.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=) | |
10 | g.68885725A>G | CA470274156 | STOX1 | c.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=) | |
10 | g.68885725A>T | CA470274157 | STOX1 | c.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=) | |
10 | g.68885726C>A | CA470274158 | STOX1 | c.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=) | |
10 | g.68885726C= | CA1917550102 | STOX1 | c.1930C= (p.Arg644=) c.2266C= (p.Arg756=) c.463+3616C= (n.463+3616C=) c.663+1267C= (n.663+1267C=) c.1600C= (p.Arg534=) | |
10 | g.68885726C>G | CA376882149 | STOX1 | c.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) | |
10 | g.68885726C>T | CA5528251 | STOX1 | c.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 |
10 | g.68885727G>A | CA5528252 | STOX1 | c.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 |
10 | g.68885727G>C | CA376882150 | STOX1 | c.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) | |
10 | g.68885727G= | CA1917550103 | STOX1 | c.1931G= (p.Arg644=) c.2267G= (p.Arg756=) c.463+3617G= (n.463+3617G=) c.663+1268G= (n.663+1268G=) c.1601G= (p.Arg534=) | |
10 | g.68885727G>T | CA376882151 | STOX1 | c.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) | |
10 | g.68885728del | CA2609414495 | STOX1 | c.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 |
10 | g.68885728A>C | CA470274159 | STOX1 | c.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=) | |
10 | g.68885728A>G | CA470274160 | STOX1 | c.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=) | |
10 | g.68885728A>T | CA470274161 | STOX1 | c.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=) | |
10 | g.68885729G>A | CA376882154 | STOX1 | c.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 |
10 | g.68885729G>C | CA376882153 | STOX1 | c.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) | |
10 | g.68885729G= | CA1917550104 | STOX1 | c.1933G= (p.Gly645=) c.2269G= (p.Gly757=) c.463+3619G= (n.463+3619G=) c.663+1270G= (n.663+1270G=) c.1603G= (p.Gly535=) | |
10 | g.68885729G>T | CA376882152 | STOX1 | c.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) | |
10 | g.68885730G>A | CA376882155 | STOX1 | c.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) | |
10 | g.68885730G>C | CA376882156 | STOX1 | c.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) | |
10 | g.68885730G= | CA1917550105 | STOX1 | c.1934G= (p.Gly645=) c.2270G= (p.Gly757=) c.463+3620G= (n.463+3620G=) c.663+1271G= (n.663+1271G=) c.1604G= (p.Gly535=) | |
10 | g.68885730G>T | CA5528253 | STOX1 | c.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 |
10 | g.68885731T>A | CA470274162 | STOX1 | c.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=) | |
10 | g.68885731T>C | CA470274163 | STOX1 | c.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=) | |
10 | g.68885731T>G | CA5528254 | STOX1 | c.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 |
10 | g.68885731T= | CA1917550106 | STOX1 | c.1935T= (p.Gly645=) c.2271T= (p.Gly757=) c.463+3621T= (n.463+3621T=) c.663+1272T= (n.663+1272T=) c.1605T= (p.Gly535=) | |
10 | g.68885732G>A | CA376882157 | STOX1 | c.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) | |
10 | g.68885732G>C | CA376882158 | STOX1 | c.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) | |
10 | g.68885732G>T | CA376882159 | STOX1 | c.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 |
10 | g.68885732_68885735delinsGCCT | CA1917550107 | STOX1 | c.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=) | |
10 | g.68885733C>A | CA376882160 | STOX1 | c.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) | |
10 | g.68885733C= | CA1917550108 | STOX1 | c.1937C= (p.Ala646=) c.2273C= (p.Ala758=) c.463+3623C= (n.463+3623C=) c.663+1274C= (n.663+1274C=) c.1607C= (p.Ala536=) | |
10 | g.68885733C>G | CA208268453 | STOX1 | c.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 |
10 | g.68885733C>T | CA208268462 | STOX1 | c.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 |
10 | g.68885736_68885738dup | CA1917550109 | STOX1 | c.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 |
10 | g.68885736_68885738del | CA5528255 | STOX1 | c.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 |
10 | g.68885734C>A | CA470274164 | STOX1 | c.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=) | |
10 | g.68885734C>G | CA470274165 | STOX1 | c.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=) | |
10 | g.68885734C>T | CA470274166 | STOX1 | c.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=) | |
10 | g.68885735T>A | CA376882163 | STOX1 | c.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) | |
10 | g.68885735T>C | CA376882162 | STOX1 | c.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) | |
10 | g.68885735T>G | CA376882161 | STOX1 | c.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) | |
10 | g.68885736C>A | CA376882164 | STOX1 | c.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 |
10 | g.68885736C= | CA1917550110 | STOX1 | c.1940C= (p.Ser647=) c.2276C= (p.Ser759=) c.463+3626C= (n.463+3626C=) c.663+1277C= (n.663+1277C=) c.1610C= (p.Ser537=) | |
10 | g.68885736C>G | CA376882165 | STOX1 | c.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 |
10 | g.68885736C>T | CA376882166 | STOX1 | c.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) | |
10 | g.68885736_68885737delinsTT | CA645550218 | STOX1 | c.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 |