Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.68885620A=CA1917550060STOX1c.1824A= (p.Glu608=)
c.2160A= (p.Glu720=)
c.463+3510A= (n.463+3510A=)
c.663+1161A= (n.663+1161A=)
c.1494A= (p.Glu498=)
10g.68885620A>CCA115165STOX1c.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
10g.68885620A>GCA470274094STOX1c.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=)
10g.68885620A>TCA376881912STOX1c.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
10g.68885621G>ACA376881915STOX1c.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
10g.68885621G>CCA376881914STOX1c.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)
10g.68885621G>TCA376881913STOX1c.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)
10g.68885622T>ACA376881916STOX1c.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)
10g.68885622T>CCA376881917STOX1c.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)
10g.68885622T>GCA376881918STOX1c.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)
10g.68885623G>ACA470274095STOX1c.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=)
10g.68885623G>CCA470274096STOX1c.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=)
10g.68885623G>TCA470274097STOX1c.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=)
10g.68885624T>ACA376881919STOX1c.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
10g.68885624T>CCA376881920STOX1c.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)
10g.68885624T>GCA376881921STOX1c.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)
10g.68885624T=CA1917550061STOX1c.1828T= (p.Tyr610=)
c.2164T= (p.Tyr722=)
c.463+3514T= (n.463+3514T=)
c.663+1165T= (n.663+1165T=)
c.1498T= (p.Tyr500=)
10g.68885625A=CA1917550062STOX1c.1829A= (p.Tyr610=)
c.2165A= (p.Tyr722=)
c.463+3515A= (n.463+3515A=)
c.663+1166A= (n.663+1166A=)
c.1499A= (p.Tyr500=)
10g.68885625A>CCA376881922STOX1c.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)
10g.68885625A>GCA376881923STOX1c.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
10g.68885625A>TCA376881924STOX1c.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)
10g.68885626T>ACA376881925STOX1c.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)
10g.68885626T>CCA470274098STOX1c.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
10g.68885626T>GCA376881926STOX1c.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)
10g.68885626T=CA1917550063STOX1c.1830T= (p.Tyr610=)
c.2166T= (p.Tyr722=)
c.463+3516T= (n.463+3516T=)
c.663+1167T= (n.663+1167T=)
c.1500T= (p.Tyr500=)
10g.68885627G>ACA376881928STOX1c.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)
10g.68885627G>CCA376881929STOX1c.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)
10g.68885627G>TCA376881927STOX1c.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)
10g.68885628G>ACA376881930STOX1c.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
10g.68885628G>CCA376881931STOX1c.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)
10g.68885628G>TCA376881932STOX1c.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)
10g.68885629T>ACA470274099STOX1c.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=)
10g.68885629T>CCA470274101STOX1c.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=)
10g.68885629T>GCA470274100STOX1c.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=)
10g.68885630G>ACA376881933STOX1c.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)
10g.68885630G>CCA376881934STOX1c.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)
10g.68885630G>TCA376881935STOX1c.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)
10g.68885631G>ACA208268314STOX1c.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
10g.68885631G>CCA376881936STOX1c.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)
10g.68885631G=CA1917550064STOX1c.1835G= (p.Gly612=)
c.2171G= (p.Gly724=)
c.463+3521G= (n.463+3521G=)
c.663+1172G= (n.663+1172G=)
c.1505G= (p.Gly502=)
10g.68885631G>TCA376881937STOX1c.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)
10g.68885632A>CCA470274102STOX1c.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=)
10g.68885632A>GCA470274103STOX1c.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=)
10g.68885632A>TCA470274104STOX1c.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=)
10g.68885633G>ACA376881938STOX1c.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)
10g.68885633G>CCA376881939STOX1c.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
10g.68885633G>TCA376881940STOX1c.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)
10g.68885634A>CCA376881943STOX1c.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)
10g.68885634A>GCA376881941STOX1c.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)
10g.68885634A>TCA376881942STOX1c.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)

Number of alleles fetched