Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.68885620A= | CA1917550060 | STOX1 | c.1824A= (p.Glu608=) c.2160A= (p.Glu720=) c.463+3510A= (n.463+3510A=) c.663+1161A= (n.663+1161A=) c.1494A= (p.Glu498=) | |
10 | g.68885620A>C | CA115165 | STOX1 | c.1824A>C (p.Glu608Asp) c.2160A>C (p.Glu720Asp) c.463+3510A>C (n.463+3510A>C) c.663+1161A>C (n.663+1161A>C) c.1494A>C (p.Glu498Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.68885620A>G | CA470274094 | STOX1 | c.1824A>G (p.Glu608=) c.2160A>G (p.Glu720=) c.463+3510A>G (n.463+3510A>G) c.663+1161A>G (n.663+1161A>G) c.1494A>G (p.Glu498=) | |
10 | g.68885620A>T | CA376881912 | STOX1 | c.1824A>T (p.Glu608Asp) c.2160A>T (p.Glu720Asp) c.463+3510A>T (n.463+3510A>T) c.663+1161A>T (n.663+1161A>T) c.1494A>T (p.Glu498Asp) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.68885621G>A | CA376881915 | STOX1 | c.1825G>A (p.Val609Met) c.2161G>A (p.Val721Met) c.463+3511G>A (n.463+3511G>A) c.663+1162G>A (n.663+1162G>A) c.1495G>A (p.Val499Met) | gnomAD v4 |
10 | g.68885621G>C | CA376881914 | STOX1 | c.1825G>C (p.Val609Leu) c.2161G>C (p.Val721Leu) c.463+3511G>C (n.463+3511G>C) c.663+1162G>C (n.663+1162G>C) c.1495G>C (p.Val499Leu) | |
10 | g.68885621G>T | CA376881913 | STOX1 | c.1825G>T (p.Val609Leu) c.2161G>T (p.Val721Leu) c.463+3511G>T (n.463+3511G>T) c.663+1162G>T (n.663+1162G>T) c.1495G>T (p.Val499Leu) | |
10 | g.68885622T>A | CA376881916 | STOX1 | c.1826T>A (p.Val609Glu) c.2162T>A (p.Val721Glu) c.463+3512T>A (n.463+3512T>A) c.663+1163T>A (n.663+1163T>A) c.1496T>A (p.Val499Glu) | |
10 | g.68885622T>C | CA376881917 | STOX1 | c.1826T>C (p.Val609Ala) c.2162T>C (p.Val721Ala) c.463+3512T>C (n.463+3512T>C) c.663+1163T>C (n.663+1163T>C) c.1496T>C (p.Val499Ala) | |
10 | g.68885622T>G | CA376881918 | STOX1 | c.1826T>G (p.Val609Gly) c.2162T>G (p.Val721Gly) c.463+3512T>G (n.463+3512T>G) c.663+1163T>G (n.663+1163T>G) c.1496T>G (p.Val499Gly) | |
10 | g.68885623G>A | CA470274095 | STOX1 | c.1827G>A (p.Val609=) c.2163G>A (p.Val721=) c.463+3513G>A (n.463+3513G>A) c.663+1164G>A (n.663+1164G>A) c.1497G>A (p.Val499=) | |
10 | g.68885623G>C | CA470274096 | STOX1 | c.1827G>C (p.Val609=) c.2163G>C (p.Val721=) c.463+3513G>C (n.463+3513G>C) c.663+1164G>C (n.663+1164G>C) c.1497G>C (p.Val499=) | |
10 | g.68885623G>T | CA470274097 | STOX1 | c.1827G>T (p.Val609=) c.2163G>T (p.Val721=) c.463+3513G>T (n.463+3513G>T) c.663+1164G>T (n.663+1164G>T) c.1497G>T (p.Val499=) | |
10 | g.68885624T>A | CA376881919 | STOX1 | c.1828T>A (p.Tyr610Asn) c.2164T>A (p.Tyr722Asn) c.463+3514T>A (n.463+3514T>A) c.663+1165T>A (n.663+1165T>A) c.1498T>A (p.Tyr500Asn) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.68885624T>C | CA376881920 | STOX1 | c.1828T>C (p.Tyr610His) c.2164T>C (p.Tyr722His) c.463+3514T>C (n.463+3514T>C) c.663+1165T>C (n.663+1165T>C) c.1498T>C (p.Tyr500His) | |
10 | g.68885624T>G | CA376881921 | STOX1 | c.1828T>G (p.Tyr610Asp) c.2164T>G (p.Tyr722Asp) c.463+3514T>G (n.463+3514T>G) c.663+1165T>G (n.663+1165T>G) c.1498T>G (p.Tyr500Asp) | |
10 | g.68885624T= | CA1917550061 | STOX1 | c.1828T= (p.Tyr610=) c.2164T= (p.Tyr722=) c.463+3514T= (n.463+3514T=) c.663+1165T= (n.663+1165T=) c.1498T= (p.Tyr500=) | |
10 | g.68885625A= | CA1917550062 | STOX1 | c.1829A= (p.Tyr610=) c.2165A= (p.Tyr722=) c.463+3515A= (n.463+3515A=) c.663+1166A= (n.663+1166A=) c.1499A= (p.Tyr500=) | |
10 | g.68885625A>C | CA376881922 | STOX1 | c.1829A>C (p.Tyr610Ser) c.2165A>C (p.Tyr722Ser) c.463+3515A>C (n.463+3515A>C) c.663+1166A>C (n.663+1166A>C) c.1499A>C (p.Tyr500Ser) | |
10 | g.68885625A>G | CA376881923 | STOX1 | c.1829A>G (p.Tyr610Cys) c.2165A>G (p.Tyr722Cys) c.463+3515A>G (n.463+3515A>G) c.663+1166A>G (n.663+1166A>G) c.1499A>G (p.Tyr500Cys) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.68885625A>T | CA376881924 | STOX1 | c.1829A>T (p.Tyr610Phe) c.2165A>T (p.Tyr722Phe) c.463+3515A>T (n.463+3515A>T) c.663+1166A>T (n.663+1166A>T) c.1499A>T (p.Tyr500Phe) | |
10 | g.68885626T>A | CA376881925 | STOX1 | c.1830T>A (p.Tyr610Ter) c.2166T>A (p.Tyr722Ter) c.463+3516T>A (n.463+3516T>A) c.663+1167T>A (n.663+1167T>A) c.1500T>A (p.Tyr500Ter) | |
10 | g.68885626T>C | CA470274098 | STOX1 | c.1830T>C (p.Tyr610=) c.2166T>C (p.Tyr722=) c.463+3516T>C (n.463+3516T>C) c.663+1167T>C (n.663+1167T>C) c.1500T>C (p.Tyr500=) | dbSNP gnomAD v4 |
10 | g.68885626T>G | CA376881926 | STOX1 | c.1830T>G (p.Tyr610Ter) c.2166T>G (p.Tyr722Ter) c.463+3516T>G (n.463+3516T>G) c.663+1167T>G (n.663+1167T>G) c.1500T>G (p.Tyr500Ter) | |
10 | g.68885626T= | CA1917550063 | STOX1 | c.1830T= (p.Tyr610=) c.2166T= (p.Tyr722=) c.463+3516T= (n.463+3516T=) c.663+1167T= (n.663+1167T=) c.1500T= (p.Tyr500=) | |
10 | g.68885627G>A | CA376881928 | STOX1 | c.1831G>A (p.Gly611Ser) c.2167G>A (p.Gly723Ser) c.463+3517G>A (n.463+3517G>A) c.663+1168G>A (n.663+1168G>A) c.1501G>A (p.Gly501Ser) | |
10 | g.68885627G>C | CA376881929 | STOX1 | c.1831G>C (p.Gly611Arg) c.2167G>C (p.Gly723Arg) c.463+3517G>C (n.463+3517G>C) c.663+1168G>C (n.663+1168G>C) c.1501G>C (p.Gly501Arg) | |
10 | g.68885627G>T | CA376881927 | STOX1 | c.1831G>T (p.Gly611Cys) c.2167G>T (p.Gly723Cys) c.463+3517G>T (n.463+3517G>T) c.663+1168G>T (n.663+1168G>T) c.1501G>T (p.Gly501Cys) | |
10 | g.68885628G>A | CA376881930 | STOX1 | c.1832G>A (p.Gly611Asp) c.2168G>A (p.Gly723Asp) c.463+3518G>A (n.463+3518G>A) c.663+1169G>A (n.663+1169G>A) c.1502G>A (p.Gly501Asp) | gnomAD v4 |
10 | g.68885628G>C | CA376881931 | STOX1 | c.1832G>C (p.Gly611Ala) c.2168G>C (p.Gly723Ala) c.463+3518G>C (n.463+3518G>C) c.663+1169G>C (n.663+1169G>C) c.1502G>C (p.Gly501Ala) | |
10 | g.68885628G>T | CA376881932 | STOX1 | c.1832G>T (p.Gly611Val) c.2168G>T (p.Gly723Val) c.463+3518G>T (n.463+3518G>T) c.663+1169G>T (n.663+1169G>T) c.1502G>T (p.Gly501Val) | |
10 | g.68885629T>A | CA470274099 | STOX1 | c.1833T>A (p.Gly611=) c.2169T>A (p.Gly723=) c.463+3519T>A (n.463+3519T>A) c.663+1170T>A (n.663+1170T>A) c.1503T>A (p.Gly501=) | |
10 | g.68885629T>C | CA470274101 | STOX1 | c.1833T>C (p.Gly611=) c.2169T>C (p.Gly723=) c.463+3519T>C (n.463+3519T>C) c.663+1170T>C (n.663+1170T>C) c.1503T>C (p.Gly501=) | |
10 | g.68885629T>G | CA470274100 | STOX1 | c.1833T>G (p.Gly611=) c.2169T>G (p.Gly723=) c.463+3519T>G (n.463+3519T>G) c.663+1170T>G (n.663+1170T>G) c.1503T>G (p.Gly501=) | |
10 | g.68885630G>A | CA376881933 | STOX1 | c.1834G>A (p.Gly612Arg) c.2170G>A (p.Gly724Arg) c.463+3520G>A (n.463+3520G>A) c.663+1171G>A (n.663+1171G>A) c.1504G>A (p.Gly502Arg) | |
10 | g.68885630G>C | CA376881934 | STOX1 | c.1834G>C (p.Gly612Arg) c.2170G>C (p.Gly724Arg) c.463+3520G>C (n.463+3520G>C) c.663+1171G>C (n.663+1171G>C) c.1504G>C (p.Gly502Arg) | |
10 | g.68885630G>T | CA376881935 | STOX1 | c.1834G>T (p.Gly612Ter) c.2170G>T (p.Gly724Ter) c.463+3520G>T (n.463+3520G>T) c.663+1171G>T (n.663+1171G>T) c.1504G>T (p.Gly502Ter) | |
10 | g.68885631G>A | CA208268314 | STOX1 | c.1835G>A (p.Gly612Glu) c.2171G>A (p.Gly724Glu) c.463+3521G>A (n.463+3521G>A) c.663+1172G>A (n.663+1172G>A) c.1505G>A (p.Gly502Glu) | dbSNP |
10 | g.68885631G>C | CA376881936 | STOX1 | c.1835G>C (p.Gly612Ala) c.2171G>C (p.Gly724Ala) c.463+3521G>C (n.463+3521G>C) c.663+1172G>C (n.663+1172G>C) c.1505G>C (p.Gly502Ala) | |
10 | g.68885631G= | CA1917550064 | STOX1 | c.1835G= (p.Gly612=) c.2171G= (p.Gly724=) c.463+3521G= (n.463+3521G=) c.663+1172G= (n.663+1172G=) c.1505G= (p.Gly502=) | |
10 | g.68885631G>T | CA376881937 | STOX1 | c.1835G>T (p.Gly612Val) c.2171G>T (p.Gly724Val) c.463+3521G>T (n.463+3521G>T) c.663+1172G>T (n.663+1172G>T) c.1505G>T (p.Gly502Val) | |
10 | g.68885632A>C | CA470274102 | STOX1 | c.1836A>C (p.Gly612=) c.2172A>C (p.Gly724=) c.463+3522A>C (n.463+3522A>C) c.663+1173A>C (n.663+1173A>C) c.1506A>C (p.Gly502=) | |
10 | g.68885632A>G | CA470274103 | STOX1 | c.1836A>G (p.Gly612=) c.2172A>G (p.Gly724=) c.463+3522A>G (n.463+3522A>G) c.663+1173A>G (n.663+1173A>G) c.1506A>G (p.Gly502=) | |
10 | g.68885632A>T | CA470274104 | STOX1 | c.1836A>T (p.Gly612=) c.2172A>T (p.Gly724=) c.463+3522A>T (n.463+3522A>T) c.663+1173A>T (n.663+1173A>T) c.1506A>T (p.Gly502=) | |
10 | g.68885633G>A | CA376881938 | STOX1 | c.1837G>A (p.Glu613Lys) c.2173G>A (p.Glu725Lys) c.463+3523G>A (n.463+3523G>A) c.663+1174G>A (n.663+1174G>A) c.1507G>A (p.Glu503Lys) | |
10 | g.68885633G>C | CA376881939 | STOX1 | c.1837G>C (p.Glu613Gln) c.2173G>C (p.Glu725Gln) c.463+3523G>C (n.463+3523G>C) c.663+1174G>C (n.663+1174G>C) c.1507G>C (p.Glu503Gln) | gnomAD v4 |
10 | g.68885633G>T | CA376881940 | STOX1 | c.1837G>T (p.Glu613Ter) c.2173G>T (p.Glu725Ter) c.463+3523G>T (n.463+3523G>T) c.663+1174G>T (n.663+1174G>T) c.1507G>T (p.Glu503Ter) | |
10 | g.68885634A>C | CA376881943 | STOX1 | c.1838A>C (p.Glu613Ala) c.2174A>C (p.Glu725Ala) c.463+3524A>C (n.463+3524A>C) c.663+1175A>C (n.663+1175A>C) c.1508A>C (p.Glu503Ala) | |
10 | g.68885634A>G | CA376881941 | STOX1 | c.1838A>G (p.Glu613Gly) c.2174A>G (p.Glu725Gly) c.463+3524A>G (n.463+3524A>G) c.663+1175A>G (n.663+1175A>G) c.1508A>G (p.Glu503Gly) | |
10 | g.68885634A>T | CA376881942 | STOX1 | c.1838A>T (p.Glu613Val) c.2174A>T (p.Glu725Val) c.463+3524A>T (n.463+3524A>T) c.663+1175A>T (n.663+1175A>T) c.1508A>T (p.Glu503Val) |