Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.113287660A>CCA357915706ANK2c.2186A>C (p.Asp729Ala)
c.2180A>C (p.Asp727Ala)
n.5461A>C
n.2342A>C
n.2271A>C
n.2147A>C
n.1211A>C
n.1132A>C
c.2135A>C (p.Asp712Ala)
c.2072A>C (p.Asp691Ala)
c.2048A>C (p.Asp683Ala)
c.1973A>C (p.Asp658Ala)
c.2051A>C (p.Asp684Ala)
c.1850A>C (p.Asp617Ala)
c.1949A>C (p.Asp650Ala)
c.2036A>C (p.Asp679Ala)
c.1652A>C (p.Asp551Ala)
c.1706A>C (p.Asp569Ala)
c.1802A>C (p.Asp601Ala)
c.2231A>C (p.Asp744Ala)
c.2207A>C (p.Asp736Ala)
c.2117A>C (p.Asp706Ala)
c.2093A>C (p.Asp698Ala)
c.1925A>C (p.Asp642Ala)
c.1937A>C (p.Asp646Ala)
c.2162A>C (p.Asp721Ala)
c.2123A>C (p.Asp708Ala)
c.1751A>C (p.Asp584Ala)
c.2099A>C (p.Asp700Ala)
4g.113287660A>GCA3050459ANK2c.2186A>G (p.Asp729Gly)
c.2180A>G (p.Asp727Gly)
n.5461A>G
n.2342A>G
n.2271A>G
n.2147A>G
n.1211A>G
n.1132A>G
c.2135A>G (p.Asp712Gly)
c.2072A>G (p.Asp691Gly)
c.2048A>G (p.Asp683Gly)
c.1973A>G (p.Asp658Gly)
c.2051A>G (p.Asp684Gly)
c.1850A>G (p.Asp617Gly)
c.1949A>G (p.Asp650Gly)
c.2036A>G (p.Asp679Gly)
c.1652A>G (p.Asp551Gly)
c.1706A>G (p.Asp569Gly)
c.1802A>G (p.Asp601Gly)
c.2231A>G (p.Asp744Gly)
c.2207A>G (p.Asp736Gly)
c.2117A>G (p.Asp706Gly)
c.2093A>G (p.Asp698Gly)
c.1925A>G (p.Asp642Gly)
c.1937A>G (p.Asp646Gly)
c.2162A>G (p.Asp721Gly)
c.2123A>G (p.Asp708Gly)
c.1751A>G (p.Asp584Gly)
c.2099A>G (p.Asp700Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.113287660A>TCA357915710ANK2c.2186A>T (p.Asp729Val)
c.2180A>T (p.Asp727Val)
n.5461A>T
n.2342A>T
n.2271A>T
n.2147A>T
n.1211A>T
n.1132A>T
c.2135A>T (p.Asp712Val)
c.2072A>T (p.Asp691Val)
c.2048A>T (p.Asp683Val)
c.1973A>T (p.Asp658Val)
c.2051A>T (p.Asp684Val)
c.1850A>T (p.Asp617Val)
c.1949A>T (p.Asp650Val)
c.2036A>T (p.Asp679Val)
c.1652A>T (p.Asp551Val)
c.1706A>T (p.Asp569Val)
c.1802A>T (p.Asp601Val)
c.2231A>T (p.Asp744Val)
c.2207A>T (p.Asp736Val)
c.2117A>T (p.Asp706Val)
c.2093A>T (p.Asp698Val)
c.1925A>T (p.Asp642Val)
c.1937A>T (p.Asp646Val)
c.2162A>T (p.Asp721Val)
c.2123A>T (p.Asp708Val)
c.1751A>T (p.Asp584Val)
c.2099A>T (p.Asp700Val)
4g.113287661T>ACA357915715ANK2c.2187T>A (p.Asp729Glu)
c.2181T>A (p.Asp727Glu)
n.5462T>A
n.2343T>A
n.2272T>A
n.2148T>A
n.1212T>A
n.1133T>A
c.2136T>A (p.Asp712Glu)
c.2073T>A (p.Asp691Glu)
c.2049T>A (p.Asp683Glu)
c.1974T>A (p.Asp658Glu)
c.2052T>A (p.Asp684Glu)
c.1851T>A (p.Asp617Glu)
c.1950T>A (p.Asp650Glu)
c.2037T>A (p.Asp679Glu)
c.1653T>A (p.Asp551Glu)
c.1707T>A (p.Asp569Glu)
c.1803T>A (p.Asp601Glu)
c.2232T>A (p.Asp744Glu)
c.2208T>A (p.Asp736Glu)
c.2118T>A (p.Asp706Glu)
c.2094T>A (p.Asp698Glu)
c.1926T>A (p.Asp642Glu)
c.1938T>A (p.Asp646Glu)
c.2163T>A (p.Asp721Glu)
c.2124T>A (p.Asp708Glu)
c.1752T>A (p.Asp584Glu)
c.2100T>A (p.Asp700Glu)
4g.113287661T>CCA440829642ANK2c.2187T>C (p.Asp729=)
c.2181T>C (p.Asp727=)
n.5462T>C
n.2343T>C
n.2272T>C
n.2148T>C
n.1212T>C
n.1133T>C
c.2136T>C (p.Asp712=)
c.2073T>C (p.Asp691=)
c.2049T>C (p.Asp683=)
c.1974T>C (p.Asp658=)
c.2052T>C (p.Asp684=)
c.1851T>C (p.Asp617=)
c.1950T>C (p.Asp650=)
c.2037T>C (p.Asp679=)
c.1653T>C (p.Asp551=)
c.1707T>C (p.Asp569=)
c.1803T>C (p.Asp601=)
c.2232T>C (p.Asp744=)
c.2208T>C (p.Asp736=)
c.2118T>C (p.Asp706=)
c.2094T>C (p.Asp698=)
c.1926T>C (p.Asp642=)
c.1938T>C (p.Asp646=)
c.2163T>C (p.Asp721=)
c.2124T>C (p.Asp708=)
c.1752T>C (p.Asp584=)
c.2100T>C (p.Asp700=)
 gnomAD v4
4g.113287661T>GCA357915717ANK2c.2187T>G (p.Asp729Glu)
c.2181T>G (p.Asp727Glu)
n.5462T>G
n.2343T>G
n.2272T>G
n.2148T>G
n.1212T>G
n.1133T>G
c.2136T>G (p.Asp712Glu)
c.2073T>G (p.Asp691Glu)
c.2049T>G (p.Asp683Glu)
c.1974T>G (p.Asp658Glu)
c.2052T>G (p.Asp684Glu)
c.1851T>G (p.Asp617Glu)
c.1950T>G (p.Asp650Glu)
c.2037T>G (p.Asp679Glu)
c.1653T>G (p.Asp551Glu)
c.1707T>G (p.Asp569Glu)
c.1803T>G (p.Asp601Glu)
c.2232T>G (p.Asp744Glu)
c.2208T>G (p.Asp736Glu)
c.2118T>G (p.Asp706Glu)
c.2094T>G (p.Asp698Glu)
c.1926T>G (p.Asp642Glu)
c.1938T>G (p.Asp646Glu)
c.2163T>G (p.Asp721Glu)
c.2124T>G (p.Asp708Glu)
c.1752T>G (p.Asp584Glu)
c.2100T>G (p.Asp700Glu)
4g.113287662A>CCA357915719ANK2c.2188A>C (p.Ile730Leu)
c.2182A>C (p.Ile728Leu)
n.5463A>C
n.2344A>C
n.2273A>C
n.2149A>C
n.1213A>C
n.1134A>C
c.2137A>C (p.Ile713Leu)
c.2074A>C (p.Ile692Leu)
c.2050A>C (p.Ile684Leu)
c.1975A>C (p.Ile659Leu)
c.2053A>C (p.Ile685Leu)
c.1852A>C (p.Ile618Leu)
c.1951A>C (p.Ile651Leu)
c.2038A>C (p.Ile680Leu)
c.1654A>C (p.Ile552Leu)
c.1708A>C (p.Ile570Leu)
c.1804A>C (p.Ile602Leu)
c.2233A>C (p.Ile745Leu)
c.2209A>C (p.Ile737Leu)
c.2119A>C (p.Ile707Leu)
c.2095A>C (p.Ile699Leu)
c.1927A>C (p.Ile643Leu)
c.1939A>C (p.Ile647Leu)
c.2164A>C (p.Ile722Leu)
c.2125A>C (p.Ile709Leu)
c.1753A>C (p.Ile585Leu)
c.2101A>C (p.Ile701Leu)
4g.113287662A>GCA357915721ANK2c.2188A>G (p.Ile730Val)
c.2182A>G (p.Ile728Val)
n.5463A>G
n.2344A>G
n.2273A>G
n.2149A>G
n.1213A>G
n.1134A>G
c.2137A>G (p.Ile713Val)
c.2074A>G (p.Ile692Val)
c.2050A>G (p.Ile684Val)
c.1975A>G (p.Ile659Val)
c.2053A>G (p.Ile685Val)
c.1852A>G (p.Ile618Val)
c.1951A>G (p.Ile651Val)
c.2038A>G (p.Ile680Val)
c.1654A>G (p.Ile552Val)
c.1708A>G (p.Ile570Val)
c.1804A>G (p.Ile602Val)
c.2233A>G (p.Ile745Val)
c.2209A>G (p.Ile737Val)
c.2119A>G (p.Ile707Val)
c.2095A>G (p.Ile699Val)
c.1927A>G (p.Ile643Val)
c.1939A>G (p.Ile647Val)
c.2164A>G (p.Ile722Val)
c.2125A>G (p.Ile709Val)
c.1753A>G (p.Ile585Val)
c.2101A>G (p.Ile701Val)
4g.113287662A>TCA357915720ANK2c.2188A>T (p.Ile730Phe)
c.2182A>T (p.Ile728Phe)
n.5463A>T
n.2344A>T
n.2273A>T
n.2149A>T
n.1213A>T
n.1134A>T
c.2137A>T (p.Ile713Phe)
c.2074A>T (p.Ile692Phe)
c.2050A>T (p.Ile684Phe)
c.1975A>T (p.Ile659Phe)
c.2053A>T (p.Ile685Phe)
c.1852A>T (p.Ile618Phe)
c.1951A>T (p.Ile651Phe)
c.2038A>T (p.Ile680Phe)
c.1654A>T (p.Ile552Phe)
c.1708A>T (p.Ile570Phe)
c.1804A>T (p.Ile602Phe)
c.2233A>T (p.Ile745Phe)
c.2209A>T (p.Ile737Phe)
c.2119A>T (p.Ile707Phe)
c.2095A>T (p.Ile699Phe)
c.1927A>T (p.Ile643Phe)
c.1939A>T (p.Ile647Phe)
c.2164A>T (p.Ile722Phe)
c.2125A>T (p.Ile709Phe)
c.1753A>T (p.Ile585Phe)
c.2101A>T (p.Ile701Phe)
4g.113287663T>ACA357915723ANK2c.2189T>A (p.Ile730Asn)
c.2183T>A (p.Ile728Asn)
n.5464T>A
n.2345T>A
n.2274T>A
n.2150T>A
n.1214T>A
n.1135T>A
c.2138T>A (p.Ile713Asn)
c.2075T>A (p.Ile692Asn)
c.2051T>A (p.Ile684Asn)
c.1976T>A (p.Ile659Asn)
c.2054T>A (p.Ile685Asn)
c.1853T>A (p.Ile618Asn)
c.1952T>A (p.Ile651Asn)
c.2039T>A (p.Ile680Asn)
c.1655T>A (p.Ile552Asn)
c.1709T>A (p.Ile570Asn)
c.1805T>A (p.Ile602Asn)
c.2234T>A (p.Ile745Asn)
c.2210T>A (p.Ile737Asn)
c.2120T>A (p.Ile707Asn)
c.2096T>A (p.Ile699Asn)
c.1928T>A (p.Ile643Asn)
c.1940T>A (p.Ile647Asn)
c.2165T>A (p.Ile722Asn)
c.2126T>A (p.Ile709Asn)
c.1754T>A (p.Ile585Asn)
c.2102T>A (p.Ile701Asn)
 dbSNP
4g.113287663T>CCA357915725ANK2c.2189T>C (p.Ile730Thr)
c.2183T>C (p.Ile728Thr)
n.5464T>C
n.2345T>C
n.2274T>C
n.2150T>C
n.1214T>C
n.1135T>C
c.2138T>C (p.Ile713Thr)
c.2075T>C (p.Ile692Thr)
c.2051T>C (p.Ile684Thr)
c.1976T>C (p.Ile659Thr)
c.2054T>C (p.Ile685Thr)
c.1853T>C (p.Ile618Thr)
c.1952T>C (p.Ile651Thr)
c.2039T>C (p.Ile680Thr)
c.1655T>C (p.Ile552Thr)
c.1709T>C (p.Ile570Thr)
c.1805T>C (p.Ile602Thr)
c.2234T>C (p.Ile745Thr)
c.2210T>C (p.Ile737Thr)
c.2120T>C (p.Ile707Thr)
c.2096T>C (p.Ile699Thr)
c.1928T>C (p.Ile643Thr)
c.1940T>C (p.Ile647Thr)
c.2165T>C (p.Ile722Thr)
c.2126T>C (p.Ile709Thr)
c.1754T>C (p.Ile585Thr)
c.2102T>C (p.Ile701Thr)
4g.113287663T>GCA357915726ANK2c.2189T>G (p.Ile730Ser)
c.2183T>G (p.Ile728Ser)
n.5464T>G
n.2345T>G
n.2274T>G
n.2150T>G
n.1214T>G
n.1135T>G
c.2138T>G (p.Ile713Ser)
c.2075T>G (p.Ile692Ser)
c.2051T>G (p.Ile684Ser)
c.1976T>G (p.Ile659Ser)
c.2054T>G (p.Ile685Ser)
c.1853T>G (p.Ile618Ser)
c.1952T>G (p.Ile651Ser)
c.2039T>G (p.Ile680Ser)
c.1655T>G (p.Ile552Ser)
c.1709T>G (p.Ile570Ser)
c.1805T>G (p.Ile602Ser)
c.2234T>G (p.Ile745Ser)
c.2210T>G (p.Ile737Ser)
c.2120T>G (p.Ile707Ser)
c.2096T>G (p.Ile699Ser)
c.1928T>G (p.Ile643Ser)
c.1940T>G (p.Ile647Ser)
c.2165T>G (p.Ile722Ser)
c.2126T>G (p.Ile709Ser)
c.1754T>G (p.Ile585Ser)
c.2102T>G (p.Ile701Ser)
4g.113287664T>ACA440829643ANK2c.2190T>A (p.Ile730=)
c.2184T>A (p.Ile728=)
n.5465T>A
n.2346T>A
n.2275T>A
n.2151T>A
n.1215T>A
n.1136T>A
c.2139T>A (p.Ile713=)
c.2076T>A (p.Ile692=)
c.2052T>A (p.Ile684=)
c.1977T>A (p.Ile659=)
c.2055T>A (p.Ile685=)
c.1854T>A (p.Ile618=)
c.1953T>A (p.Ile651=)
c.2040T>A (p.Ile680=)
c.1656T>A (p.Ile552=)
c.1710T>A (p.Ile570=)
c.1806T>A (p.Ile602=)
c.2235T>A (p.Ile745=)
c.2211T>A (p.Ile737=)
c.2121T>A (p.Ile707=)
c.2097T>A (p.Ile699=)
c.1929T>A (p.Ile643=)
c.1941T>A (p.Ile647=)
c.2166T>A (p.Ile722=)
c.2127T>A (p.Ile709=)
c.1755T>A (p.Ile585=)
c.2103T>A (p.Ile701=)
4g.113287664T>CCA440829645ANK2c.2190T>C (p.Ile730=)
c.2184T>C (p.Ile728=)
n.5465T>C
n.2346T>C
n.2275T>C
n.2151T>C
n.1215T>C
n.1136T>C
c.2139T>C (p.Ile713=)
c.2076T>C (p.Ile692=)
c.2052T>C (p.Ile684=)
c.1977T>C (p.Ile659=)
c.2055T>C (p.Ile685=)
c.1854T>C (p.Ile618=)
c.1953T>C (p.Ile651=)
c.2040T>C (p.Ile680=)
c.1656T>C (p.Ile552=)
c.1710T>C (p.Ile570=)
c.1806T>C (p.Ile602=)
c.2235T>C (p.Ile745=)
c.2211T>C (p.Ile737=)
c.2121T>C (p.Ile707=)
c.2097T>C (p.Ile699=)
c.1929T>C (p.Ile643=)
c.1941T>C (p.Ile647=)
c.2166T>C (p.Ile722=)
c.2127T>C (p.Ile709=)
c.1755T>C (p.Ile585=)
c.2103T>C (p.Ile701=)
 dbSNP gnomAD v4 COSMIC
4g.113287664T>GCA357915728ANK2c.2190T>G (p.Ile730Met)
c.2184T>G (p.Ile728Met)
n.5465T>G
n.2346T>G
n.2275T>G
n.2151T>G
n.1215T>G
n.1136T>G
c.2139T>G (p.Ile713Met)
c.2076T>G (p.Ile692Met)
c.2052T>G (p.Ile684Met)
c.1977T>G (p.Ile659Met)
c.2055T>G (p.Ile685Met)
c.1854T>G (p.Ile618Met)
c.1953T>G (p.Ile651Met)
c.2040T>G (p.Ile680Met)
c.1656T>G (p.Ile552Met)
c.1710T>G (p.Ile570Met)
c.1806T>G (p.Ile602Met)
c.2235T>G (p.Ile745Met)
c.2211T>G (p.Ile737Met)
c.2121T>G (p.Ile707Met)
c.2097T>G (p.Ile699Met)
c.1929T>G (p.Ile643Met)
c.1941T>G (p.Ile647Met)
c.2166T>G (p.Ile722Met)
c.2127T>G (p.Ile709Met)
c.1755T>G (p.Ile585Met)
c.2103T>G (p.Ile701Met)
4g.113287665C>ACA357915730ANK2c.2191C>A (p.Leu731Ile)
c.2185C>A (p.Leu729Ile)
n.5466C>A
n.2347C>A
n.2276C>A
n.2152C>A
n.1216C>A
n.1137C>A
c.2140C>A (p.Leu714Ile)
c.2077C>A (p.Leu693Ile)
c.2053C>A (p.Leu685Ile)
c.1978C>A (p.Leu660Ile)
c.2056C>A (p.Leu686Ile)
c.1855C>A (p.Leu619Ile)
c.1954C>A (p.Leu652Ile)
c.2041C>A (p.Leu681Ile)
c.1657C>A (p.Leu553Ile)
c.1711C>A (p.Leu571Ile)
c.1807C>A (p.Leu603Ile)
c.2236C>A (p.Leu746Ile)
c.2212C>A (p.Leu738Ile)
c.2122C>A (p.Leu708Ile)
c.2098C>A (p.Leu700Ile)
c.1930C>A (p.Leu644Ile)
c.1942C>A (p.Leu648Ile)
c.2167C>A (p.Leu723Ile)
c.2128C>A (p.Leu710Ile)
c.1756C>A (p.Leu586Ile)
c.2104C>A (p.Leu702Ile)
 dbSNP gnomAD v4 COSMIC
4g.113287665C>GCA357915731ANK2c.2191C>G (p.Leu731Val)
c.2185C>G (p.Leu729Val)
n.5466C>G
n.2347C>G
n.2276C>G
n.2152C>G
n.1216C>G
n.1137C>G
c.2140C>G (p.Leu714Val)
c.2077C>G (p.Leu693Val)
c.2053C>G (p.Leu685Val)
c.1978C>G (p.Leu660Val)
c.2056C>G (p.Leu686Val)
c.1855C>G (p.Leu619Val)
c.1954C>G (p.Leu652Val)
c.2041C>G (p.Leu681Val)
c.1657C>G (p.Leu553Val)
c.1711C>G (p.Leu571Val)
c.1807C>G (p.Leu603Val)
c.2236C>G (p.Leu746Val)
c.2212C>G (p.Leu738Val)
c.2122C>G (p.Leu708Val)
c.2098C>G (p.Leu700Val)
c.1930C>G (p.Leu644Val)
c.1942C>G (p.Leu648Val)
c.2167C>G (p.Leu723Val)
c.2128C>G (p.Leu710Val)
c.1756C>G (p.Leu586Val)
c.2104C>G (p.Leu702Val)
4g.113287665C>TCA357915733ANK2c.2191C>T (p.Leu731Phe)
c.2185C>T (p.Leu729Phe)
n.5466C>T
n.2347C>T
n.2276C>T
n.2152C>T
n.1216C>T
n.1137C>T
c.2140C>T (p.Leu714Phe)
c.2077C>T (p.Leu693Phe)
c.2053C>T (p.Leu685Phe)
c.1978C>T (p.Leu660Phe)
c.2056C>T (p.Leu686Phe)
c.1855C>T (p.Leu619Phe)
c.1954C>T (p.Leu652Phe)
c.2041C>T (p.Leu681Phe)
c.1657C>T (p.Leu553Phe)
c.1711C>T (p.Leu571Phe)
c.1807C>T (p.Leu603Phe)
c.2236C>T (p.Leu746Phe)
c.2212C>T (p.Leu738Phe)
c.2122C>T (p.Leu708Phe)
c.2098C>T (p.Leu700Phe)
c.1930C>T (p.Leu644Phe)
c.1942C>T (p.Leu648Phe)
c.2167C>T (p.Leu723Phe)
c.2128C>T (p.Leu710Phe)
c.1756C>T (p.Leu586Phe)
c.2104C>T (p.Leu702Phe)
4g.113287666T>ACA357915734ANK2c.2192T>A (p.Leu731His)
c.2186T>A (p.Leu729His)
n.5467T>A
n.2348T>A
n.2277T>A
n.2153T>A
n.1217T>A
n.1138T>A
c.2141T>A (p.Leu714His)
c.2078T>A (p.Leu693His)
c.2054T>A (p.Leu685His)
c.1979T>A (p.Leu660His)
c.2057T>A (p.Leu686His)
c.1856T>A (p.Leu619His)
c.1955T>A (p.Leu652His)
c.2042T>A (p.Leu681His)
c.1658T>A (p.Leu553His)
c.1712T>A (p.Leu571His)
c.1808T>A (p.Leu603His)
c.2237T>A (p.Leu746His)
c.2213T>A (p.Leu738His)
c.2123T>A (p.Leu708His)
c.2099T>A (p.Leu700His)
c.1931T>A (p.Leu644His)
c.1943T>A (p.Leu648His)
c.2168T>A (p.Leu723His)
c.2129T>A (p.Leu710His)
c.1757T>A (p.Leu586His)
c.2105T>A (p.Leu702His)
4g.113287666T>CCA357915735ANK2c.2192T>C (p.Leu731Pro)
c.2186T>C (p.Leu729Pro)
n.5467T>C
n.2348T>C
n.2277T>C
n.2153T>C
n.1217T>C
n.1138T>C
c.2141T>C (p.Leu714Pro)
c.2078T>C (p.Leu693Pro)
c.2054T>C (p.Leu685Pro)
c.1979T>C (p.Leu660Pro)
c.2057T>C (p.Leu686Pro)
c.1856T>C (p.Leu619Pro)
c.1955T>C (p.Leu652Pro)
c.2042T>C (p.Leu681Pro)
c.1658T>C (p.Leu553Pro)
c.1712T>C (p.Leu571Pro)
c.1808T>C (p.Leu603Pro)
c.2237T>C (p.Leu746Pro)
c.2213T>C (p.Leu738Pro)
c.2123T>C (p.Leu708Pro)
c.2099T>C (p.Leu700Pro)
c.1931T>C (p.Leu644Pro)
c.1943T>C (p.Leu648Pro)
c.2168T>C (p.Leu723Pro)
c.2129T>C (p.Leu710Pro)
c.1757T>C (p.Leu586Pro)
c.2105T>C (p.Leu702Pro)
4g.113287666T>GCA357915736ANK2c.2192T>G (p.Leu731Arg)
c.2186T>G (p.Leu729Arg)
n.5467T>G
n.2348T>G
n.2277T>G
n.2153T>G
n.1217T>G
n.1138T>G
c.2141T>G (p.Leu714Arg)
c.2078T>G (p.Leu693Arg)
c.2054T>G (p.Leu685Arg)
c.1979T>G (p.Leu660Arg)
c.2057T>G (p.Leu686Arg)
c.1856T>G (p.Leu619Arg)
c.1955T>G (p.Leu652Arg)
c.2042T>G (p.Leu681Arg)
c.1658T>G (p.Leu553Arg)
c.1712T>G (p.Leu571Arg)
c.1808T>G (p.Leu603Arg)
c.2237T>G (p.Leu746Arg)
c.2213T>G (p.Leu738Arg)
c.2123T>G (p.Leu708Arg)
c.2099T>G (p.Leu700Arg)
c.1931T>G (p.Leu644Arg)
c.1943T>G (p.Leu648Arg)
c.2168T>G (p.Leu723Arg)
c.2129T>G (p.Leu710Arg)
c.1757T>G (p.Leu586Arg)
c.2105T>G (p.Leu702Arg)
4g.113287667C>ACA440829647ANK2c.2193C>A (p.Leu731=)
c.2187C>A (p.Leu729=)
n.5468C>A
n.2349C>A
n.2278C>A
n.2154C>A
n.1218C>A
n.1139C>A
c.2142C>A (p.Leu714=)
c.2079C>A (p.Leu693=)
c.2055C>A (p.Leu685=)
c.1980C>A (p.Leu660=)
c.2058C>A (p.Leu686=)
c.1857C>A (p.Leu619=)
c.1956C>A (p.Leu652=)
c.2043C>A (p.Leu681=)
c.1659C>A (p.Leu553=)
c.1713C>A (p.Leu571=)
c.1809C>A (p.Leu603=)
c.2238C>A (p.Leu746=)
c.2214C>A (p.Leu738=)
c.2124C>A (p.Leu708=)
c.2100C>A (p.Leu700=)
c.1932C>A (p.Leu644=)
c.1944C>A (p.Leu648=)
c.2169C>A (p.Leu723=)
c.2130C>A (p.Leu710=)
c.1758C>A (p.Leu586=)
c.2106C>A (p.Leu702=)
4g.113287667C>GCA440829649ANK2c.2193C>G (p.Leu731=)
c.2187C>G (p.Leu729=)
n.5468C>G
n.2349C>G
n.2278C>G
n.2154C>G
n.1218C>G
n.1139C>G
c.2142C>G (p.Leu714=)
c.2079C>G (p.Leu693=)
c.2055C>G (p.Leu685=)
c.1980C>G (p.Leu660=)
c.2058C>G (p.Leu686=)
c.1857C>G (p.Leu619=)
c.1956C>G (p.Leu652=)
c.2043C>G (p.Leu681=)
c.1659C>G (p.Leu553=)
c.1713C>G (p.Leu571=)
c.1809C>G (p.Leu603=)
c.2238C>G (p.Leu746=)
c.2214C>G (p.Leu738=)
c.2124C>G (p.Leu708=)
c.2100C>G (p.Leu700=)
c.1932C>G (p.Leu644=)
c.1944C>G (p.Leu648=)
c.2169C>G (p.Leu723=)
c.2130C>G (p.Leu710=)
c.1758C>G (p.Leu586=)
c.2106C>G (p.Leu702=)
4g.113287667C>TCA3050460ANK2c.2193C>T (p.Leu731=)
c.2187C>T (p.Leu729=)
n.5468C>T
n.2349C>T
n.2278C>T
n.2154C>T
n.1218C>T
n.1139C>T
c.2142C>T (p.Leu714=)
c.2079C>T (p.Leu693=)
c.2055C>T (p.Leu685=)
c.1980C>T (p.Leu660=)
c.2058C>T (p.Leu686=)
c.1857C>T (p.Leu619=)
c.1956C>T (p.Leu652=)
c.2043C>T (p.Leu681=)
c.1659C>T (p.Leu553=)
c.1713C>T (p.Leu571=)
c.1809C>T (p.Leu603=)
c.2238C>T (p.Leu746=)
c.2214C>T (p.Leu738=)
c.2124C>T (p.Leu708=)
c.2100C>T (p.Leu700=)
c.1932C>T (p.Leu644=)
c.1944C>T (p.Leu648=)
c.2169C>T (p.Leu723=)
c.2130C>T (p.Leu710=)
c.1758C>T (p.Leu586=)
c.2106C>T (p.Leu702=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.113287668A>CCA357915740ANK2c.2194A>C (p.Thr732Pro)
c.2188A>C (p.Thr730Pro)
n.5469A>C
n.2350A>C
n.2279A>C
n.2155A>C
n.1219A>C
n.1140A>C
c.2143A>C (p.Thr715Pro)
c.2080A>C (p.Thr694Pro)
c.2056A>C (p.Thr686Pro)
c.1981A>C (p.Thr661Pro)
c.2059A>C (p.Thr687Pro)
c.1858A>C (p.Thr620Pro)
c.1957A>C (p.Thr653Pro)
c.2044A>C (p.Thr682Pro)
c.1660A>C (p.Thr554Pro)
c.1714A>C (p.Thr572Pro)
c.1810A>C (p.Thr604Pro)
c.2239A>C (p.Thr747Pro)
c.2215A>C (p.Thr739Pro)
c.2125A>C (p.Thr709Pro)
c.2101A>C (p.Thr701Pro)
c.1933A>C (p.Thr645Pro)
c.1945A>C (p.Thr649Pro)
c.2170A>C (p.Thr724Pro)
c.2131A>C (p.Thr711Pro)
c.1759A>C (p.Thr587Pro)
c.2107A>C (p.Thr703Pro)
4g.113287668A>GCA357915741ANK2c.2194A>G (p.Thr732Ala)
c.2188A>G (p.Thr730Ala)
n.5469A>G
n.2350A>G
n.2279A>G
n.2155A>G
n.1219A>G
n.1140A>G
c.2143A>G (p.Thr715Ala)
c.2080A>G (p.Thr694Ala)
c.2056A>G (p.Thr686Ala)
c.1981A>G (p.Thr661Ala)
c.2059A>G (p.Thr687Ala)
c.1858A>G (p.Thr620Ala)
c.1957A>G (p.Thr653Ala)
c.2044A>G (p.Thr682Ala)
c.1660A>G (p.Thr554Ala)
c.1714A>G (p.Thr572Ala)
c.1810A>G (p.Thr604Ala)
c.2239A>G (p.Thr747Ala)
c.2215A>G (p.Thr739Ala)
c.2125A>G (p.Thr709Ala)
c.2101A>G (p.Thr701Ala)
c.1933A>G (p.Thr645Ala)
c.1945A>G (p.Thr649Ala)
c.2170A>G (p.Thr724Ala)
c.2131A>G (p.Thr711Ala)
c.1759A>G (p.Thr587Ala)
c.2107A>G (p.Thr703Ala)
4g.113287668A>TCA357915739ANK2c.2194A>T (p.Thr732Ser)
c.2188A>T (p.Thr730Ser)
n.5469A>T
n.2350A>T
n.2279A>T
n.2155A>T
n.1219A>T
n.1140A>T
c.2143A>T (p.Thr715Ser)
c.2080A>T (p.Thr694Ser)
c.2056A>T (p.Thr686Ser)
c.1981A>T (p.Thr661Ser)
c.2059A>T (p.Thr687Ser)
c.1858A>T (p.Thr620Ser)
c.1957A>T (p.Thr653Ser)
c.2044A>T (p.Thr682Ser)
c.1660A>T (p.Thr554Ser)
c.1714A>T (p.Thr572Ser)
c.1810A>T (p.Thr604Ser)
c.2239A>T (p.Thr747Ser)
c.2215A>T (p.Thr739Ser)
c.2125A>T (p.Thr709Ser)
c.2101A>T (p.Thr701Ser)
c.1933A>T (p.Thr645Ser)
c.1945A>T (p.Thr649Ser)
c.2170A>T (p.Thr724Ser)
c.2131A>T (p.Thr711Ser)
c.1759A>T (p.Thr587Ser)
c.2107A>T (p.Thr703Ser)
4g.113287669C>ACA3050461ANK2c.2195C>A (p.Thr732Asn)
c.2189C>A (p.Thr730Asn)
n.5470C>A
n.2351C>A
n.2280C>A
n.2156C>A
n.1220C>A
n.1141C>A
c.2144C>A (p.Thr715Asn)
c.2081C>A (p.Thr694Asn)
c.2057C>A (p.Thr686Asn)
c.1982C>A (p.Thr661Asn)
c.2060C>A (p.Thr687Asn)
c.1859C>A (p.Thr620Asn)
c.1958C>A (p.Thr653Asn)
c.2045C>A (p.Thr682Asn)
c.1661C>A (p.Thr554Asn)
c.1715C>A (p.Thr572Asn)
c.1811C>A (p.Thr604Asn)
c.2240C>A (p.Thr747Asn)
c.2216C>A (p.Thr739Asn)
c.2126C>A (p.Thr709Asn)
c.2102C>A (p.Thr701Asn)
c.1934C>A (p.Thr645Asn)
c.1946C>A (p.Thr649Asn)
c.2171C>A (p.Thr724Asn)
c.2132C>A (p.Thr711Asn)
c.1760C>A (p.Thr587Asn)
c.2108C>A (p.Thr703Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.113287669C>GCA357915746ANK2c.2195C>G (p.Thr732Ser)
c.2189C>G (p.Thr730Ser)
n.5470C>G
n.2351C>G
n.2280C>G
n.2156C>G
n.1220C>G
n.1141C>G
c.2144C>G (p.Thr715Ser)
c.2081C>G (p.Thr694Ser)
c.2057C>G (p.Thr686Ser)
c.1982C>G (p.Thr661Ser)
c.2060C>G (p.Thr687Ser)
c.1859C>G (p.Thr620Ser)
c.1958C>G (p.Thr653Ser)
c.2045C>G (p.Thr682Ser)
c.1661C>G (p.Thr554Ser)
c.1715C>G (p.Thr572Ser)
c.1811C>G (p.Thr604Ser)
c.2240C>G (p.Thr747Ser)
c.2216C>G (p.Thr739Ser)
c.2126C>G (p.Thr709Ser)
c.2102C>G (p.Thr701Ser)
c.1934C>G (p.Thr645Ser)
c.1946C>G (p.Thr649Ser)
c.2171C>G (p.Thr724Ser)
c.2132C>G (p.Thr711Ser)
c.1760C>G (p.Thr587Ser)
c.2108C>G (p.Thr703Ser)
4g.113287669C>TCA300692ANK2c.2195C>T (p.Thr732Ile)
c.2189C>T (p.Thr730Ile)
n.5470C>T
n.2351C>T
n.2280C>T
n.2156C>T
n.1220C>T
n.1141C>T
c.2144C>T (p.Thr715Ile)
c.2081C>T (p.Thr694Ile)
c.2057C>T (p.Thr686Ile)
c.1982C>T (p.Thr661Ile)
c.2060C>T (p.Thr687Ile)
c.1859C>T (p.Thr620Ile)
c.1958C>T (p.Thr653Ile)
c.2045C>T (p.Thr682Ile)
c.1661C>T (p.Thr554Ile)
c.1715C>T (p.Thr572Ile)
c.1811C>T (p.Thr604Ile)
c.2240C>T (p.Thr747Ile)
c.2216C>T (p.Thr739Ile)
c.2126C>T (p.Thr709Ile)
c.2102C>T (p.Thr701Ile)
c.1934C>T (p.Thr645Ile)
c.1946C>T (p.Thr649Ile)
c.2171C>T (p.Thr724Ile)
c.2132C>T (p.Thr711Ile)
c.1760C>T (p.Thr587Ile)
c.2108C>T (p.Thr703Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.113287670C>ACA440829651ANK2c.2196C>A (p.Thr732=)
c.2190C>A (p.Thr730=)
n.5471C>A
n.2352C>A
n.2281C>A
n.2157C>A
n.1221C>A
n.1142C>A
c.2145C>A (p.Thr715=)
c.2082C>A (p.Thr694=)
c.2058C>A (p.Thr686=)
c.1983C>A (p.Thr661=)
c.2061C>A (p.Thr687=)
c.1860C>A (p.Thr620=)
c.1959C>A (p.Thr653=)
c.2046C>A (p.Thr682=)
c.1662C>A (p.Thr554=)
c.1716C>A (p.Thr572=)
c.1812C>A (p.Thr604=)
c.2241C>A (p.Thr747=)
c.2217C>A (p.Thr739=)
c.2127C>A (p.Thr709=)
c.2103C>A (p.Thr701=)
c.1935C>A (p.Thr645=)
c.1947C>A (p.Thr649=)
c.2172C>A (p.Thr724=)
c.2133C>A (p.Thr711=)
c.1761C>A (p.Thr587=)
c.2109C>A (p.Thr703=)
4g.113287670C>GCA440829654ANK2c.2196C>G (p.Thr732=)
c.2190C>G (p.Thr730=)
n.5471C>G
n.2352C>G
n.2281C>G
n.2157C>G
n.1221C>G
n.1142C>G
c.2145C>G (p.Thr715=)
c.2082C>G (p.Thr694=)
c.2058C>G (p.Thr686=)
c.1983C>G (p.Thr661=)
c.2061C>G (p.Thr687=)
c.1860C>G (p.Thr620=)
c.1959C>G (p.Thr653=)
c.2046C>G (p.Thr682=)
c.1662C>G (p.Thr554=)
c.1716C>G (p.Thr572=)
c.1812C>G (p.Thr604=)
c.2241C>G (p.Thr747=)
c.2217C>G (p.Thr739=)
c.2127C>G (p.Thr709=)
c.2103C>G (p.Thr701=)
c.1935C>G (p.Thr645=)
c.1947C>G (p.Thr649=)
c.2172C>G (p.Thr724=)
c.2133C>G (p.Thr711=)
c.1761C>G (p.Thr587=)
c.2109C>G (p.Thr703=)
4g.113287670C>TCA440829653ANK2c.2196C>T (p.Thr732=)
c.2190C>T (p.Thr730=)
n.5471C>T
n.2352C>T
n.2281C>T
n.2157C>T
n.1221C>T
n.1142C>T
c.2145C>T (p.Thr715=)
c.2082C>T (p.Thr694=)
c.2058C>T (p.Thr686=)
c.1983C>T (p.Thr661=)
c.2061C>T (p.Thr687=)
c.1860C>T (p.Thr620=)
c.1959C>T (p.Thr653=)
c.2046C>T (p.Thr682=)
c.1662C>T (p.Thr554=)
c.1716C>T (p.Thr572=)
c.1812C>T (p.Thr604=)
c.2241C>T (p.Thr747=)
c.2217C>T (p.Thr739=)
c.2127C>T (p.Thr709=)
c.2103C>T (p.Thr701=)
c.1935C>T (p.Thr645=)
c.1947C>T (p.Thr649=)
c.2172C>T (p.Thr724=)
c.2133C>T (p.Thr711=)
c.1761C>T (p.Thr587=)
c.2109C>T (p.Thr703=)
 dbSNP
4g.113287671A>CCA357915749ANK2c.2197A>C (p.Lys733Gln)
c.2191A>C (p.Lys731Gln)
n.5472A>C
n.2353A>C
n.2282A>C
n.2158A>C
n.1222A>C
n.1143A>C
c.2146A>C (p.Lys716Gln)
c.2083A>C (p.Lys695Gln)
c.2059A>C (p.Lys687Gln)
c.1984A>C (p.Lys662Gln)
c.2062A>C (p.Lys688Gln)
c.1861A>C (p.Lys621Gln)
c.1960A>C (p.Lys654Gln)
c.2047A>C (p.Lys683Gln)
c.1663A>C (p.Lys555Gln)
c.1717A>C (p.Lys573Gln)
c.1813A>C (p.Lys605Gln)
c.2242A>C (p.Lys748Gln)
c.2218A>C (p.Lys740Gln)
c.2128A>C (p.Lys710Gln)
c.2104A>C (p.Lys702Gln)
c.1936A>C (p.Lys646Gln)
c.1948A>C (p.Lys650Gln)
c.2173A>C (p.Lys725Gln)
c.2134A>C (p.Lys712Gln)
c.1762A>C (p.Lys588Gln)
c.2110A>C (p.Lys704Gln)
4g.113287671A>GCA357915751ANK2c.2197A>G (p.Lys733Glu)
c.2191A>G (p.Lys731Glu)
n.5472A>G
n.2353A>G
n.2282A>G
n.2158A>G
n.1222A>G
n.1143A>G
c.2146A>G (p.Lys716Glu)
c.2083A>G (p.Lys695Glu)
c.2059A>G (p.Lys687Glu)
c.1984A>G (p.Lys662Glu)
c.2062A>G (p.Lys688Glu)
c.1861A>G (p.Lys621Glu)
c.1960A>G (p.Lys654Glu)
c.2047A>G (p.Lys683Glu)
c.1663A>G (p.Lys555Glu)
c.1717A>G (p.Lys573Glu)
c.1813A>G (p.Lys605Glu)
c.2242A>G (p.Lys748Glu)
c.2218A>G (p.Lys740Glu)
c.2128A>G (p.Lys710Glu)
c.2104A>G (p.Lys702Glu)
c.1936A>G (p.Lys646Glu)
c.1948A>G (p.Lys650Glu)
c.2173A>G (p.Lys725Glu)
c.2134A>G (p.Lys712Glu)
c.1762A>G (p.Lys588Glu)
c.2110A>G (p.Lys704Glu)
 gnomAD v4
4g.113287671A>TCA357915753ANK2c.2197A>T (p.Lys733Ter)
c.2191A>T (p.Lys731Ter)
n.5472A>T
n.2353A>T
n.2282A>T
n.2158A>T
n.1222A>T
n.1143A>T
c.2146A>T (p.Lys716Ter)
c.2083A>T (p.Lys695Ter)
c.2059A>T (p.Lys687Ter)
c.1984A>T (p.Lys662Ter)
c.2062A>T (p.Lys688Ter)
c.1861A>T (p.Lys621Ter)
c.1960A>T (p.Lys654Ter)
c.2047A>T (p.Lys683Ter)
c.1663A>T (p.Lys555Ter)
c.1717A>T (p.Lys573Ter)
c.1813A>T (p.Lys605Ter)
c.2242A>T (p.Lys748Ter)
c.2218A>T (p.Lys740Ter)
c.2128A>T (p.Lys710Ter)
c.2104A>T (p.Lys702Ter)
c.1936A>T (p.Lys646Ter)
c.1948A>T (p.Lys650Ter)
c.2173A>T (p.Lys725Ter)
c.2134A>T (p.Lys712Ter)
c.1762A>T (p.Lys588Ter)
c.2110A>T (p.Lys704Ter)
4g.113287672A>CCA357915755ANK2c.2198A>C (p.Lys733Thr)
c.2192A>C (p.Lys731Thr)
n.5473A>C
n.2354A>C
n.2283A>C
n.2159A>C
n.1223A>C
n.1144A>C
c.2147A>C (p.Lys716Thr)
c.2084A>C (p.Lys695Thr)
c.2060A>C (p.Lys687Thr)
c.1985A>C (p.Lys662Thr)
c.2063A>C (p.Lys688Thr)
c.1862A>C (p.Lys621Thr)
c.1961A>C (p.Lys654Thr)
c.2048A>C (p.Lys683Thr)
c.1664A>C (p.Lys555Thr)
c.1718A>C (p.Lys573Thr)
c.1814A>C (p.Lys605Thr)
c.2243A>C (p.Lys748Thr)
c.2219A>C (p.Lys740Thr)
c.2129A>C (p.Lys710Thr)
c.2105A>C (p.Lys702Thr)
c.1937A>C (p.Lys646Thr)
c.1949A>C (p.Lys650Thr)
c.2174A>C (p.Lys725Thr)
c.2135A>C (p.Lys712Thr)
c.1763A>C (p.Lys588Thr)
c.2111A>C (p.Lys704Thr)
4g.113287672A>GCA357915758ANK2c.2198A>G (p.Lys733Arg)
c.2192A>G (p.Lys731Arg)
n.5473A>G
n.2354A>G
n.2283A>G
n.2159A>G
n.1223A>G
n.1144A>G
c.2147A>G (p.Lys716Arg)
c.2084A>G (p.Lys695Arg)
c.2060A>G (p.Lys687Arg)
c.1985A>G (p.Lys662Arg)
c.2063A>G (p.Lys688Arg)
c.1862A>G (p.Lys621Arg)
c.1961A>G (p.Lys654Arg)
c.2048A>G (p.Lys683Arg)
c.1664A>G (p.Lys555Arg)
c.1718A>G (p.Lys573Arg)
c.1814A>G (p.Lys605Arg)
c.2243A>G (p.Lys748Arg)
c.2219A>G (p.Lys740Arg)
c.2129A>G (p.Lys710Arg)
c.2105A>G (p.Lys702Arg)
c.1937A>G (p.Lys646Arg)
c.1949A>G (p.Lys650Arg)
c.2174A>G (p.Lys725Arg)
c.2135A>G (p.Lys712Arg)
c.1763A>G (p.Lys588Arg)
c.2111A>G (p.Lys704Arg)
4g.113287672A>TCA357915760ANK2c.2198A>T (p.Lys733Met)
c.2192A>T (p.Lys731Met)
n.5473A>T
n.2354A>T
n.2283A>T
n.2159A>T
n.1223A>T
n.1144A>T
c.2147A>T (p.Lys716Met)
c.2084A>T (p.Lys695Met)
c.2060A>T (p.Lys687Met)
c.1985A>T (p.Lys662Met)
c.2063A>T (p.Lys688Met)
c.1862A>T (p.Lys621Met)
c.1961A>T (p.Lys654Met)
c.2048A>T (p.Lys683Met)
c.1664A>T (p.Lys555Met)
c.1718A>T (p.Lys573Met)
c.1814A>T (p.Lys605Met)
c.2243A>T (p.Lys748Met)
c.2219A>T (p.Lys740Met)
c.2129A>T (p.Lys710Met)
c.2105A>T (p.Lys702Met)
c.1937A>T (p.Lys646Met)
c.1949A>T (p.Lys650Met)
c.2174A>T (p.Lys725Met)
c.2135A>T (p.Lys712Met)
c.1763A>T (p.Lys588Met)
c.2111A>T (p.Lys704Met)
4g.113287672_113287673insACACACCCAACCA2763132848ANK2c.2198_2199insACACACCCAAC (p.Gly735ThrfsTer19)
c.2192_2193insACACACCCAAC (p.Gly733ThrfsTer19)
n.5473_5474insACACACCCAAC
n.2354_2355insACACACCCAAC
n.2283_2284insACACACCCAAC
n.2159_2160insACACACCCAAC
n.1223_1224insACACACCCAAC
n.1144_1145insACACACCCAAC
c.2147_2148insACACACCCAAC (p.Gly718ThrfsTer19)
c.2084_2085insACACACCCAAC (p.Gly697ThrfsTer19)
c.2060_2061insACACACCCAAC (p.Gly689ThrfsTer19)
c.1985_1986insACACACCCAAC (p.Gly664ThrfsTer19)
c.2063_2064insACACACCCAAC (p.Gly690ThrfsTer19)
c.1862_1863insACACACCCAAC (p.Gly623ThrfsTer19)
c.1961_1962insACACACCCAAC (p.Gly656ThrfsTer19)
c.2048_2049insACACACCCAAC (p.Gly685ThrfsTer19)
c.1664_1665insACACACCCAAC (p.Gly557ThrfsTer19)
c.1718_1719insACACACCCAAC (p.Gly575ThrfsTer19)
c.1814_1815insACACACCCAAC (p.Gly607ThrfsTer19)
c.2243_2244insACACACCCAAC (p.Gly750ThrfsTer19)
c.2219_2220insACACACCCAAC (p.Gly742ThrfsTer19)
c.2129_2130insACACACCCAAC (p.Gly712ThrfsTer19)
c.2105_2106insACACACCCAAC (p.Gly704ThrfsTer19)
c.1937_1938insACACACCCAAC (p.Gly648ThrfsTer19)
c.1949_1950insACACACCCAAC (p.Gly652ThrfsTer19)
c.2174_2175insACACACCCAAC (p.Gly727ThrfsTer19)
c.2135_2136insACACACCCAAC (p.Gly714ThrfsTer19)
c.1763_1764insACACACCCAAC (p.Gly590ThrfsTer19)
c.2111_2112insACACACCCAAC (p.Gly706ThrfsTer19)
4g.113287673G>ACA440829658ANK2c.2199G>A (p.Lys733=)
c.2193G>A (p.Lys731=)
n.5474G>A
n.2355G>A
n.2284G>A
n.2160G>A
n.1224G>A
n.1145G>A
c.2148G>A (p.Lys716=)
c.2085G>A (p.Lys695=)
c.2061G>A (p.Lys687=)
c.1986G>A (p.Lys662=)
c.2064G>A (p.Lys688=)
c.1863G>A (p.Lys621=)
c.1962G>A (p.Lys654=)
c.2049G>A (p.Lys683=)
c.1665G>A (p.Lys555=)
c.1719G>A (p.Lys573=)
c.1815G>A (p.Lys605=)
c.2244G>A (p.Lys748=)
c.2220G>A (p.Lys740=)
c.2130G>A (p.Lys710=)
c.2106G>A (p.Lys702=)
c.1938G>A (p.Lys646=)
c.1950G>A (p.Lys650=)
c.2175G>A (p.Lys725=)
c.2136G>A (p.Lys712=)
c.1764G>A (p.Lys588=)
c.2112G>A (p.Lys704=)
4g.113287673G>CCA357915761ANK2c.2199G>C (p.Lys733Asn)
c.2193G>C (p.Lys731Asn)
n.5474G>C
n.2355G>C
n.2284G>C
n.2160G>C
n.1224G>C
n.1145G>C
c.2148G>C (p.Lys716Asn)
c.2085G>C (p.Lys695Asn)
c.2061G>C (p.Lys687Asn)
c.1986G>C (p.Lys662Asn)
c.2064G>C (p.Lys688Asn)
c.1863G>C (p.Lys621Asn)
c.1962G>C (p.Lys654Asn)
c.2049G>C (p.Lys683Asn)
c.1665G>C (p.Lys555Asn)
c.1719G>C (p.Lys573Asn)
c.1815G>C (p.Lys605Asn)
c.2244G>C (p.Lys748Asn)
c.2220G>C (p.Lys740Asn)
c.2130G>C (p.Lys710Asn)
c.2106G>C (p.Lys702Asn)
c.1938G>C (p.Lys646Asn)
c.1950G>C (p.Lys650Asn)
c.2175G>C (p.Lys725Asn)
c.2136G>C (p.Lys712Asn)
c.1764G>C (p.Lys588Asn)
c.2112G>C (p.Lys704Asn)
4g.113287673G>TCA357915762ANK2c.2199G>T (p.Lys733Asn)
c.2193G>T (p.Lys731Asn)
n.5474G>T
n.2355G>T
n.2284G>T
n.2160G>T
n.1224G>T
n.1145G>T
c.2148G>T (p.Lys716Asn)
c.2085G>T (p.Lys695Asn)
c.2061G>T (p.Lys687Asn)
c.1986G>T (p.Lys662Asn)
c.2064G>T (p.Lys688Asn)
c.1863G>T (p.Lys621Asn)
c.1962G>T (p.Lys654Asn)
c.2049G>T (p.Lys683Asn)
c.1665G>T (p.Lys555Asn)
c.1719G>T (p.Lys573Asn)
c.1815G>T (p.Lys605Asn)
c.2244G>T (p.Lys748Asn)
c.2220G>T (p.Lys740Asn)
c.2130G>T (p.Lys710Asn)
c.2106G>T (p.Lys702Asn)
c.1938G>T (p.Lys646Asn)
c.1950G>T (p.Lys650Asn)
c.2175G>T (p.Lys725Asn)
c.2136G>T (p.Lys712Asn)
c.1764G>T (p.Lys588Asn)
c.2112G>T (p.Lys704Asn)
4g.113287674C>ACA357915763ANK2c.2200C>A (p.His734Asn)
c.2194C>A (p.His732Asn)
n.5475C>A
n.2356C>A
n.2285C>A
n.2161C>A
n.1225C>A
n.1146C>A
c.2149C>A (p.His717Asn)
c.2086C>A (p.His696Asn)
c.2062C>A (p.His688Asn)
c.1987C>A (p.His663Asn)
c.2065C>A (p.His689Asn)
c.1864C>A (p.His622Asn)
c.1963C>A (p.His655Asn)
c.2050C>A (p.His684Asn)
c.1666C>A (p.His556Asn)
c.1720C>A (p.His574Asn)
c.1816C>A (p.His606Asn)
c.2245C>A (p.His749Asn)
c.2221C>A (p.His741Asn)
c.2131C>A (p.His711Asn)
c.2107C>A (p.His703Asn)
c.1939C>A (p.His647Asn)
c.1951C>A (p.His651Asn)
c.2176C>A (p.His726Asn)
c.2137C>A (p.His713Asn)
c.1765C>A (p.His589Asn)
c.2113C>A (p.His705Asn)
4g.113287674C>GCA357915764ANK2c.2200C>G (p.His734Asp)
c.2194C>G (p.His732Asp)
n.5475C>G
n.2356C>G
n.2285C>G
n.2161C>G
n.1225C>G
n.1146C>G
c.2149C>G (p.His717Asp)
c.2086C>G (p.His696Asp)
c.2062C>G (p.His688Asp)
c.1987C>G (p.His663Asp)
c.2065C>G (p.His689Asp)
c.1864C>G (p.His622Asp)
c.1963C>G (p.His655Asp)
c.2050C>G (p.His684Asp)
c.1666C>G (p.His556Asp)
c.1720C>G (p.His574Asp)
c.1816C>G (p.His606Asp)
c.2245C>G (p.His749Asp)
c.2221C>G (p.His741Asp)
c.2131C>G (p.His711Asp)
c.2107C>G (p.His703Asp)
c.1939C>G (p.His647Asp)
c.1951C>G (p.His651Asp)
c.2176C>G (p.His726Asp)
c.2137C>G (p.His713Asp)
c.1765C>G (p.His589Asp)
c.2113C>G (p.His705Asp)
4g.113287674C>TCA3050462ANK2c.2200C>T (p.His734Tyr)
c.2194C>T (p.His732Tyr)
n.5475C>T
n.2356C>T
n.2285C>T
n.2161C>T
n.1225C>T
n.1146C>T
c.2149C>T (p.His717Tyr)
c.2086C>T (p.His696Tyr)
c.2062C>T (p.His688Tyr)
c.1987C>T (p.His663Tyr)
c.2065C>T (p.His689Tyr)
c.1864C>T (p.His622Tyr)
c.1963C>T (p.His655Tyr)
c.2050C>T (p.His684Tyr)
c.1666C>T (p.His556Tyr)
c.1720C>T (p.His574Tyr)
c.1816C>T (p.His606Tyr)
c.2245C>T (p.His749Tyr)
c.2221C>T (p.His741Tyr)
c.2131C>T (p.His711Tyr)
c.2107C>T (p.His703Tyr)
c.1939C>T (p.His647Tyr)
c.1951C>T (p.His651Tyr)
c.2176C>T (p.His726Tyr)
c.2137C>T (p.His713Tyr)
c.1765C>T (p.His589Tyr)
c.2113C>T (p.His705Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.113287675A>CCA3050463ANK2c.2201A>C (p.His734Pro)
c.2195A>C (p.His732Pro)
n.5476A>C
n.2357A>C
n.2286A>C
n.2162A>C
n.1226A>C
n.1147A>C
c.2150A>C (p.His717Pro)
c.2087A>C (p.His696Pro)
c.2063A>C (p.His688Pro)
c.1988A>C (p.His663Pro)
c.2066A>C (p.His689Pro)
c.1865A>C (p.His622Pro)
c.1964A>C (p.His655Pro)
c.2051A>C (p.His684Pro)
c.1667A>C (p.His556Pro)
c.1721A>C (p.His574Pro)
c.1817A>C (p.His606Pro)
c.2246A>C (p.His749Pro)
c.2222A>C (p.His741Pro)
c.2132A>C (p.His711Pro)
c.2108A>C (p.His703Pro)
c.1940A>C (p.His647Pro)
c.1952A>C (p.His651Pro)
c.2177A>C (p.His726Pro)
c.2138A>C (p.His713Pro)
c.1766A>C (p.His589Pro)
c.2114A>C (p.His705Pro)
 ClinVar dbSNP ExAC gnomAD v2
4g.113287675A>GCA357915765ANK2c.2201A>G (p.His734Arg)
c.2195A>G (p.His732Arg)
n.5476A>G
n.2357A>G
n.2286A>G
n.2162A>G
n.1226A>G
n.1147A>G
c.2150A>G (p.His717Arg)
c.2087A>G (p.His696Arg)
c.2063A>G (p.His688Arg)
c.1988A>G (p.His663Arg)
c.2066A>G (p.His689Arg)
c.1865A>G (p.His622Arg)
c.1964A>G (p.His655Arg)
c.2051A>G (p.His684Arg)
c.1667A>G (p.His556Arg)
c.1721A>G (p.His574Arg)
c.1817A>G (p.His606Arg)
c.2246A>G (p.His749Arg)
c.2222A>G (p.His741Arg)
c.2132A>G (p.His711Arg)
c.2108A>G (p.His703Arg)
c.1940A>G (p.His647Arg)
c.1952A>G (p.His651Arg)
c.2177A>G (p.His726Arg)
c.2138A>G (p.His713Arg)
c.1766A>G (p.His589Arg)
c.2114A>G (p.His705Arg)
 gnomAD v4
4g.113287675A>TCA357915767ANK2c.2201A>T (p.His734Leu)
c.2195A>T (p.His732Leu)
n.5476A>T
n.2357A>T
n.2286A>T
n.2162A>T
n.1226A>T
n.1147A>T
c.2150A>T (p.His717Leu)
c.2087A>T (p.His696Leu)
c.2063A>T (p.His688Leu)
c.1988A>T (p.His663Leu)
c.2066A>T (p.His689Leu)
c.1865A>T (p.His622Leu)
c.1964A>T (p.His655Leu)
c.2051A>T (p.His684Leu)
c.1667A>T (p.His556Leu)
c.1721A>T (p.His574Leu)
c.1817A>T (p.His606Leu)
c.2246A>T (p.His749Leu)
c.2222A>T (p.His741Leu)
c.2132A>T (p.His711Leu)
c.2108A>T (p.His703Leu)
c.1940A>T (p.His647Leu)
c.1952A>T (p.His651Leu)
c.2177A>T (p.His726Leu)
c.2138A>T (p.His713Leu)
c.1766A>T (p.His589Leu)
c.2114A>T (p.His705Leu)
4g.113287676T>ACA357915774ANK2c.2202T>A (p.His734Gln)
c.2196T>A (p.His732Gln)
n.5477T>A
n.2358T>A
n.2287T>A
n.2163T>A
n.1227T>A
n.1148T>A
c.2151T>A (p.His717Gln)
c.2088T>A (p.His696Gln)
c.2064T>A (p.His688Gln)
c.1989T>A (p.His663Gln)
c.2067T>A (p.His689Gln)
c.1866T>A (p.His622Gln)
c.1965T>A (p.His655Gln)
c.2052T>A (p.His684Gln)
c.1668T>A (p.His556Gln)
c.1722T>A (p.His574Gln)
c.1818T>A (p.His606Gln)
c.2247T>A (p.His749Gln)
c.2223T>A (p.His741Gln)
c.2133T>A (p.His711Gln)
c.2109T>A (p.His703Gln)
c.1941T>A (p.His647Gln)
c.1953T>A (p.His651Gln)
c.2178T>A (p.His726Gln)
c.2139T>A (p.His713Gln)
c.1767T>A (p.His589Gln)
c.2115T>A (p.His705Gln)

Number of alleles fetched