Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.113369711G>ACA357942885ANK2c.11657G>A (p.Ser3886Asn)
c.5342G>A (p.Ser1781Asn)
c.1943G>A (p.Ser648Asn)
c.2441G>A (p.Ser814Asn)
n.2898G>A
n.2106G>A
n.2850G>A
n.1679G>A
n.3641G>A
n.1622G>A
n.2015G>A
n.8361G>A
n.2987G>A
n.10G>A
n.971G>A
n.3405G>A
n.1620G>A
c.11516G>A (p.Ser3839Asn)
c.11354G>A (p.Ser3785Asn)
c.2648G>A (p.Ser883Asn)
c.971G>A (p.Ser324Asn)
c.5075G>A (p.Ser1692Asn)
c.5162G>A (p.Ser1721Asn)
c.5099G>A (p.Ser1700Asn)
c.5297G>A (p.Ser1766Asn)
c.5198G>A (p.Ser1733Asn)
c.11390G>A (p.Ser3797Asn)
c.5000G>A (p.Ser1667Asn)
c.*754G>A (n.*754G>A)
c.11333G>A (p.Ser3778Asn)
c.4877G>A (p.Ser1626Asn)
c.11330G>A (p.Ser3777Asn)
c.4976G>A (p.Ser1659Asn)
c.11561G>A (p.Ser3854Asn)
c.5111G>A (p.Ser1704Asn)
c.5096G>A (p.Ser1699Asn)
c.11597G>A (p.Ser3866Asn)
c.5084G>A (p.Ser1695Asn)
c.11318G>A (p.Ser3773Asn)
c.5036G>A (p.Ser1679Asn)
c.5234G>A (p.Ser1745Asn)
c.2825G>A (p.Ser942Asn)
c.11417G>A (p.Ser3806Asn)
c.5306G>A (p.Ser1769Asn)
c.11453G>A (p.Ser3818Asn)
c.5063G>A (p.Ser1688Asn)
c.11255G>A (p.Ser3752Asn)
c.5135G>A (p.Ser1712Asn)
c.4679G>A (p.Ser1560Asn)
c.2810G>A (p.Ser937Asn)
c.11231G>A (p.Ser3744Asn)
c.2789G>A (p.Ser930Asn)
c.11462G>A (p.Ser3821Asn)
c.5027G>A (p.Ser1676Asn)
c.4769G>A (p.Ser1590Asn)
c.11291G>A (p.Ser3764Asn)
c.5261G>A (p.Ser1754Asn)
c.2546G>A (p.Ser849Asn)
c.1217G>A (p.Ser406Asn)
c.2265G>A
c.*2877G>A (n.*2877G>A)
c.11549G>A (p.Ser3850Asn)
c.5258G>A (p.Ser1753Asn)
c.11603G>A (p.Ser3868Asn)
c.11567G>A (p.Ser3856Asn)
c.5315G>A (p.Ser1772Asn)
c.5348G>A (p.Ser1783Asn)
c.5279G>A (p.Ser1760Asn)
c.11543G>A (p.Ser3848Asn)
c.11588G>A (p.Ser3863Asn)
c.5273G>A (p.Ser1758Asn)
c.5240G>A (p.Ser1747Asn)
c.5303G>A (p.Ser1768Asn)
c.5159G>A (p.Ser1720Asn)
c.5339G>A (p.Ser1780Asn)
c.5231G>A (p.Ser1744Asn)
c.5195G>A (p.Ser1732Asn)
c.5210G>A (p.Ser1737Asn)
c.5120G>A (p.Ser1707Asn)
c.5048G>A (p.Ser1683Asn)
c.5132G>A (p.Ser1711Asn)
c.4961G>A (p.Ser1654Asn)
c.11633G>A (p.Ser3878Asn)
c.11519G>A (p.Ser3840Asn)
c.11489G>A (p.Ser3830Asn)
c.11552G>A (p.Ser3851Asn)
c.11282G>A (p.Ser3761Asn)
c.5042G>A (p.Ser1681Asn)
c.5087G>A (p.Ser1696Asn)
c.5246G>A (p.Ser1749Asn)
c.5318G>A (p.Ser1773Asn)
c.4778G>A (p.Ser1593Asn)
c.5105G>A (p.Ser1702Asn)
c.7916G>A (p.Ser2639Asn)
c.1661G>A (p.Ser554Asn)
c.5126G>A (p.Ser1709Asn)
dbSNP COSMIC COSMIC
4g.113369711G>CCA329735ANK2c.11657G>C (p.Ser3886Thr)
c.5342G>C (p.Ser1781Thr)
c.1943G>C (p.Ser648Thr)
c.2441G>C (p.Ser814Thr)
n.2898G>C
n.2106G>C
n.2850G>C
n.1679G>C
n.3641G>C
n.1622G>C
n.2015G>C
n.8361G>C
n.2987G>C
n.10G>C
n.971G>C
n.3405G>C
n.1620G>C
c.11516G>C (p.Ser3839Thr)
c.11354G>C (p.Ser3785Thr)
c.2648G>C (p.Ser883Thr)
c.971G>C (p.Ser324Thr)
c.5075G>C (p.Ser1692Thr)
c.5162G>C (p.Ser1721Thr)
c.5099G>C (p.Ser1700Thr)
c.5297G>C (p.Ser1766Thr)
c.5198G>C (p.Ser1733Thr)
c.11390G>C (p.Ser3797Thr)
c.5000G>C (p.Ser1667Thr)
c.*754G>C (n.*754G>C)
c.11333G>C (p.Ser3778Thr)
c.4877G>C (p.Ser1626Thr)
c.11330G>C (p.Ser3777Thr)
c.4976G>C (p.Ser1659Thr)
c.11561G>C (p.Ser3854Thr)
c.5111G>C (p.Ser1704Thr)
c.5096G>C (p.Ser1699Thr)
c.11597G>C (p.Ser3866Thr)
c.5084G>C (p.Ser1695Thr)
c.11318G>C (p.Ser3773Thr)
c.5036G>C (p.Ser1679Thr)
c.5234G>C (p.Ser1745Thr)
c.2825G>C (p.Ser942Thr)
c.11417G>C (p.Ser3806Thr)
c.5306G>C (p.Ser1769Thr)
c.11453G>C (p.Ser3818Thr)
c.5063G>C (p.Ser1688Thr)
c.11255G>C (p.Ser3752Thr)
c.5135G>C (p.Ser1712Thr)
c.4679G>C (p.Ser1560Thr)
c.2810G>C (p.Ser937Thr)
c.11231G>C (p.Ser3744Thr)
c.2789G>C (p.Ser930Thr)
c.11462G>C (p.Ser3821Thr)
c.5027G>C (p.Ser1676Thr)
c.4769G>C (p.Ser1590Thr)
c.11291G>C (p.Ser3764Thr)
c.5261G>C (p.Ser1754Thr)
c.2546G>C (p.Ser849Thr)
c.1217G>C (p.Ser406Thr)
c.2265G>C
c.*2877G>C (n.*2877G>C)
c.11549G>C (p.Ser3850Thr)
c.5258G>C (p.Ser1753Thr)
c.11603G>C (p.Ser3868Thr)
c.11567G>C (p.Ser3856Thr)
c.5315G>C (p.Ser1772Thr)
c.5348G>C (p.Ser1783Thr)
c.5279G>C (p.Ser1760Thr)
c.11543G>C (p.Ser3848Thr)
c.11588G>C (p.Ser3863Thr)
c.5273G>C (p.Ser1758Thr)
c.5240G>C (p.Ser1747Thr)
c.5303G>C (p.Ser1768Thr)
c.5159G>C (p.Ser1720Thr)
c.5339G>C (p.Ser1780Thr)
c.5231G>C (p.Ser1744Thr)
c.5195G>C (p.Ser1732Thr)
c.5210G>C (p.Ser1737Thr)
c.5120G>C (p.Ser1707Thr)
c.5048G>C (p.Ser1683Thr)
c.5132G>C (p.Ser1711Thr)
c.4961G>C (p.Ser1654Thr)
c.11633G>C (p.Ser3878Thr)
c.11519G>C (p.Ser3840Thr)
c.11489G>C (p.Ser3830Thr)
c.11552G>C (p.Ser3851Thr)
c.11282G>C (p.Ser3761Thr)
c.5042G>C (p.Ser1681Thr)
c.5087G>C (p.Ser1696Thr)
c.5246G>C (p.Ser1749Thr)
c.5318G>C (p.Ser1773Thr)
c.4778G>C (p.Ser1593Thr)
c.5105G>C (p.Ser1702Thr)
c.7916G>C (p.Ser2639Thr)
c.1661G>C (p.Ser554Thr)
c.5126G>C (p.Ser1709Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.113369711G>TCA357942886ANK2c.11657G>T (p.Ser3886Ile)
c.5342G>T (p.Ser1781Ile)
c.1943G>T (p.Ser648Ile)
c.2441G>T (p.Ser814Ile)
n.2898G>T
n.2106G>T
n.2850G>T
n.1679G>T
n.3641G>T
n.1622G>T
n.2015G>T
n.8361G>T
n.2987G>T
n.10G>T
n.971G>T
n.3405G>T
n.1620G>T
c.11516G>T (p.Ser3839Ile)
c.11354G>T (p.Ser3785Ile)
c.2648G>T (p.Ser883Ile)
c.971G>T (p.Ser324Ile)
c.5075G>T (p.Ser1692Ile)
c.5162G>T (p.Ser1721Ile)
c.5099G>T (p.Ser1700Ile)
c.5297G>T (p.Ser1766Ile)
c.5198G>T (p.Ser1733Ile)
c.11390G>T (p.Ser3797Ile)
c.5000G>T (p.Ser1667Ile)
c.*754G>T (n.*754G>T)
c.11333G>T (p.Ser3778Ile)
c.4877G>T (p.Ser1626Ile)
c.11330G>T (p.Ser3777Ile)
c.4976G>T (p.Ser1659Ile)
c.11561G>T (p.Ser3854Ile)
c.5111G>T (p.Ser1704Ile)
c.5096G>T (p.Ser1699Ile)
c.11597G>T (p.Ser3866Ile)
c.5084G>T (p.Ser1695Ile)
c.11318G>T (p.Ser3773Ile)
c.5036G>T (p.Ser1679Ile)
c.5234G>T (p.Ser1745Ile)
c.2825G>T (p.Ser942Ile)
c.11417G>T (p.Ser3806Ile)
c.5306G>T (p.Ser1769Ile)
c.11453G>T (p.Ser3818Ile)
c.5063G>T (p.Ser1688Ile)
c.11255G>T (p.Ser3752Ile)
c.5135G>T (p.Ser1712Ile)
c.4679G>T (p.Ser1560Ile)
c.2810G>T (p.Ser937Ile)
c.11231G>T (p.Ser3744Ile)
c.2789G>T (p.Ser930Ile)
c.11462G>T (p.Ser3821Ile)
c.5027G>T (p.Ser1676Ile)
c.4769G>T (p.Ser1590Ile)
c.11291G>T (p.Ser3764Ile)
c.5261G>T (p.Ser1754Ile)
c.2546G>T (p.Ser849Ile)
c.1217G>T (p.Ser406Ile)
c.2265G>T
c.*2877G>T (n.*2877G>T)
c.11549G>T (p.Ser3850Ile)
c.5258G>T (p.Ser1753Ile)
c.11603G>T (p.Ser3868Ile)
c.11567G>T (p.Ser3856Ile)
c.5315G>T (p.Ser1772Ile)
c.5348G>T (p.Ser1783Ile)
c.5279G>T (p.Ser1760Ile)
c.11543G>T (p.Ser3848Ile)
c.11588G>T (p.Ser3863Ile)
c.5273G>T (p.Ser1758Ile)
c.5240G>T (p.Ser1747Ile)
c.5303G>T (p.Ser1768Ile)
c.5159G>T (p.Ser1720Ile)
c.5339G>T (p.Ser1780Ile)
c.5231G>T (p.Ser1744Ile)
c.5195G>T (p.Ser1732Ile)
c.5210G>T (p.Ser1737Ile)
c.5120G>T (p.Ser1707Ile)
c.5048G>T (p.Ser1683Ile)
c.5132G>T (p.Ser1711Ile)
c.4961G>T (p.Ser1654Ile)
c.11633G>T (p.Ser3878Ile)
c.11519G>T (p.Ser3840Ile)
c.11489G>T (p.Ser3830Ile)
c.11552G>T (p.Ser3851Ile)
c.11282G>T (p.Ser3761Ile)
c.5042G>T (p.Ser1681Ile)
c.5087G>T (p.Ser1696Ile)
c.5246G>T (p.Ser1749Ile)
c.5318G>T (p.Ser1773Ile)
c.4778G>T (p.Ser1593Ile)
c.5105G>T (p.Ser1702Ile)
c.7916G>T (p.Ser2639Ile)
c.1661G>T (p.Ser554Ile)
c.5126G>T (p.Ser1709Ile)
4g.113369712C>ACA357942887ANK2c.11658C>A (p.Ser3886Arg)
c.5343C>A (p.Ser1781Arg)
c.1944C>A (p.Ser648Arg)
c.2442C>A (p.Ser814Arg)
n.2899C>A
n.2107C>A
n.2851C>A
n.1680C>A
n.3642C>A
n.1623C>A
n.2016C>A
n.8362C>A
n.2988C>A
n.11C>A
n.972C>A
n.3406C>A
n.1621C>A
c.11517C>A (p.Ser3839Arg)
c.11355C>A (p.Ser3785Arg)
c.2649C>A (p.Ser883Arg)
c.972C>A (p.Ser324Arg)
c.5076C>A (p.Ser1692Arg)
c.5163C>A (p.Ser1721Arg)
c.5100C>A (p.Ser1700Arg)
c.5298C>A (p.Ser1766Arg)
c.5199C>A (p.Ser1733Arg)
c.11391C>A (p.Ser3797Arg)
c.5001C>A (p.Ser1667Arg)
c.*755C>A (n.*755C>A)
c.11334C>A (p.Ser3778Arg)
c.4878C>A (p.Ser1626Arg)
c.11331C>A (p.Ser3777Arg)
c.4977C>A (p.Ser1659Arg)
c.11562C>A (p.Ser3854Arg)
c.5112C>A (p.Ser1704Arg)
c.5097C>A (p.Ser1699Arg)
c.11598C>A (p.Ser3866Arg)
c.5085C>A (p.Ser1695Arg)
c.11319C>A (p.Ser3773Arg)
c.5037C>A (p.Ser1679Arg)
c.5235C>A (p.Ser1745Arg)
c.2826C>A (p.Ser942Arg)
c.11418C>A (p.Ser3806Arg)
c.5307C>A (p.Ser1769Arg)
c.11454C>A (p.Ser3818Arg)
c.5064C>A (p.Ser1688Arg)
c.11256C>A (p.Ser3752Arg)
c.5136C>A (p.Ser1712Arg)
c.4680C>A (p.Ser1560Arg)
c.2811C>A (p.Ser937Arg)
c.11232C>A (p.Ser3744Arg)
c.2790C>A (p.Ser930Arg)
c.11463C>A (p.Ser3821Arg)
c.5028C>A (p.Ser1676Arg)
c.4770C>A (p.Ser1590Arg)
c.11292C>A (p.Ser3764Arg)
c.5262C>A (p.Ser1754Arg)
c.2547C>A (p.Ser849Arg)
c.1218C>A (p.Ser406Arg)
c.2266C>A
c.*2878C>A (n.*2878C>A)
c.11550C>A (p.Ser3850Arg)
c.5259C>A (p.Ser1753Arg)
c.11604C>A (p.Ser3868Arg)
c.11568C>A (p.Ser3856Arg)
c.5316C>A (p.Ser1772Arg)
c.5349C>A (p.Ser1783Arg)
c.5280C>A (p.Ser1760Arg)
c.11544C>A (p.Ser3848Arg)
c.11589C>A (p.Ser3863Arg)
c.5274C>A (p.Ser1758Arg)
c.5241C>A (p.Ser1747Arg)
c.5304C>A (p.Ser1768Arg)
c.5160C>A (p.Ser1720Arg)
c.5340C>A (p.Ser1780Arg)
c.5232C>A (p.Ser1744Arg)
c.5196C>A (p.Ser1732Arg)
c.5211C>A (p.Ser1737Arg)
c.5121C>A (p.Ser1707Arg)
c.5049C>A (p.Ser1683Arg)
c.5133C>A (p.Ser1711Arg)
c.4962C>A (p.Ser1654Arg)
c.11634C>A (p.Ser3878Arg)
c.11520C>A (p.Ser3840Arg)
c.11490C>A (p.Ser3830Arg)
c.11553C>A (p.Ser3851Arg)
c.11283C>A (p.Ser3761Arg)
c.5043C>A (p.Ser1681Arg)
c.5088C>A (p.Ser1696Arg)
c.5247C>A (p.Ser1749Arg)
c.5319C>A (p.Ser1773Arg)
c.4779C>A (p.Ser1593Arg)
c.5106C>A (p.Ser1702Arg)
c.7917C>A (p.Ser2639Arg)
c.1662C>A (p.Ser554Arg)
c.5127C>A (p.Ser1709Arg)
dbSNP
4g.113369712C>GCA357942888ANK2c.11658C>G (p.Ser3886Arg)
c.5343C>G (p.Ser1781Arg)
c.1944C>G (p.Ser648Arg)
c.2442C>G (p.Ser814Arg)
n.2899C>G
n.2107C>G
n.2851C>G
n.1680C>G
n.3642C>G
n.1623C>G
n.2016C>G
n.8362C>G
n.2988C>G
n.11C>G
n.972C>G
n.3406C>G
n.1621C>G
c.11517C>G (p.Ser3839Arg)
c.11355C>G (p.Ser3785Arg)
c.2649C>G (p.Ser883Arg)
c.972C>G (p.Ser324Arg)
c.5076C>G (p.Ser1692Arg)
c.5163C>G (p.Ser1721Arg)
c.5100C>G (p.Ser1700Arg)
c.5298C>G (p.Ser1766Arg)
c.5199C>G (p.Ser1733Arg)
c.11391C>G (p.Ser3797Arg)
c.5001C>G (p.Ser1667Arg)
c.*755C>G (n.*755C>G)
c.11334C>G (p.Ser3778Arg)
c.4878C>G (p.Ser1626Arg)
c.11331C>G (p.Ser3777Arg)
c.4977C>G (p.Ser1659Arg)
c.11562C>G (p.Ser3854Arg)
c.5112C>G (p.Ser1704Arg)
c.5097C>G (p.Ser1699Arg)
c.11598C>G (p.Ser3866Arg)
c.5085C>G (p.Ser1695Arg)
c.11319C>G (p.Ser3773Arg)
c.5037C>G (p.Ser1679Arg)
c.5235C>G (p.Ser1745Arg)
c.2826C>G (p.Ser942Arg)
c.11418C>G (p.Ser3806Arg)
c.5307C>G (p.Ser1769Arg)
c.11454C>G (p.Ser3818Arg)
c.5064C>G (p.Ser1688Arg)
c.11256C>G (p.Ser3752Arg)
c.5136C>G (p.Ser1712Arg)
c.4680C>G (p.Ser1560Arg)
c.2811C>G (p.Ser937Arg)
c.11232C>G (p.Ser3744Arg)
c.2790C>G (p.Ser930Arg)
c.11463C>G (p.Ser3821Arg)
c.5028C>G (p.Ser1676Arg)
c.4770C>G (p.Ser1590Arg)
c.11292C>G (p.Ser3764Arg)
c.5262C>G (p.Ser1754Arg)
c.2547C>G (p.Ser849Arg)
c.1218C>G (p.Ser406Arg)
c.2266C>G
c.*2878C>G (n.*2878C>G)
c.11550C>G (p.Ser3850Arg)
c.5259C>G (p.Ser1753Arg)
c.11604C>G (p.Ser3868Arg)
c.11568C>G (p.Ser3856Arg)
c.5316C>G (p.Ser1772Arg)
c.5349C>G (p.Ser1783Arg)
c.5280C>G (p.Ser1760Arg)
c.11544C>G (p.Ser3848Arg)
c.11589C>G (p.Ser3863Arg)
c.5274C>G (p.Ser1758Arg)
c.5241C>G (p.Ser1747Arg)
c.5304C>G (p.Ser1768Arg)
c.5160C>G (p.Ser1720Arg)
c.5340C>G (p.Ser1780Arg)
c.5232C>G (p.Ser1744Arg)
c.5196C>G (p.Ser1732Arg)
c.5211C>G (p.Ser1737Arg)
c.5121C>G (p.Ser1707Arg)
c.5049C>G (p.Ser1683Arg)
c.5133C>G (p.Ser1711Arg)
c.4962C>G (p.Ser1654Arg)
c.11634C>G (p.Ser3878Arg)
c.11520C>G (p.Ser3840Arg)
c.11490C>G (p.Ser3830Arg)
c.11553C>G (p.Ser3851Arg)
c.11283C>G (p.Ser3761Arg)
c.5043C>G (p.Ser1681Arg)
c.5088C>G (p.Ser1696Arg)
c.5247C>G (p.Ser1749Arg)
c.5319C>G (p.Ser1773Arg)
c.4779C>G (p.Ser1593Arg)
c.5106C>G (p.Ser1702Arg)
c.7917C>G (p.Ser2639Arg)
c.1662C>G (p.Ser554Arg)
c.5127C>G (p.Ser1709Arg)
dbSNP
4g.113369712C>TCA440835922ANK2c.11658C>T (p.Ser3886=)
c.5343C>T (p.Ser1781=)
c.1944C>T (p.Ser648=)
c.2442C>T (p.Ser814=)
n.2899C>T
n.2107C>T
n.2851C>T
n.1680C>T
n.3642C>T
n.1623C>T
n.2016C>T
n.8362C>T
n.2988C>T
n.11C>T
n.972C>T
n.3406C>T
n.1621C>T
c.11517C>T (p.Ser3839=)
c.11355C>T (p.Ser3785=)
c.2649C>T (p.Ser883=)
c.972C>T (p.Ser324=)
c.5076C>T (p.Ser1692=)
c.5163C>T (p.Ser1721=)
c.5100C>T (p.Ser1700=)
c.5298C>T (p.Ser1766=)
c.5199C>T (p.Ser1733=)
c.11391C>T (p.Ser3797=)
c.5001C>T (p.Ser1667=)
c.*755C>T (n.*755C>T)
c.11334C>T (p.Ser3778=)
c.4878C>T (p.Ser1626=)
c.11331C>T (p.Ser3777=)
c.4977C>T (p.Ser1659=)
c.11562C>T (p.Ser3854=)
c.5112C>T (p.Ser1704=)
c.5097C>T (p.Ser1699=)
c.11598C>T (p.Ser3866=)
c.5085C>T (p.Ser1695=)
c.11319C>T (p.Ser3773=)
c.5037C>T (p.Ser1679=)
c.5235C>T (p.Ser1745=)
c.2826C>T (p.Ser942=)
c.11418C>T (p.Ser3806=)
c.5307C>T (p.Ser1769=)
c.11454C>T (p.Ser3818=)
c.5064C>T (p.Ser1688=)
c.11256C>T (p.Ser3752=)
c.5136C>T (p.Ser1712=)
c.4680C>T (p.Ser1560=)
c.2811C>T (p.Ser937=)
c.11232C>T (p.Ser3744=)
c.2790C>T (p.Ser930=)
c.11463C>T (p.Ser3821=)
c.5028C>T (p.Ser1676=)
c.4770C>T (p.Ser1590=)
c.11292C>T (p.Ser3764=)
c.5262C>T (p.Ser1754=)
c.2547C>T (p.Ser849=)
c.1218C>T (p.Ser406=)
c.2266C>T
c.*2878C>T (n.*2878C>T)
c.11550C>T (p.Ser3850=)
c.5259C>T (p.Ser1753=)
c.11604C>T (p.Ser3868=)
c.11568C>T (p.Ser3856=)
c.5316C>T (p.Ser1772=)
c.5349C>T (p.Ser1783=)
c.5280C>T (p.Ser1760=)
c.11544C>T (p.Ser3848=)
c.11589C>T (p.Ser3863=)
c.5274C>T (p.Ser1758=)
c.5241C>T (p.Ser1747=)
c.5304C>T (p.Ser1768=)
c.5160C>T (p.Ser1720=)
c.5340C>T (p.Ser1780=)
c.5232C>T (p.Ser1744=)
c.5196C>T (p.Ser1732=)
c.5211C>T (p.Ser1737=)
c.5121C>T (p.Ser1707=)
c.5049C>T (p.Ser1683=)
c.5133C>T (p.Ser1711=)
c.4962C>T (p.Ser1654=)
c.11634C>T (p.Ser3878=)
c.11520C>T (p.Ser3840=)
c.11490C>T (p.Ser3830=)
c.11553C>T (p.Ser3851=)
c.11283C>T (p.Ser3761=)
c.5043C>T (p.Ser1681=)
c.5088C>T (p.Ser1696=)
c.5247C>T (p.Ser1749=)
c.5319C>T (p.Ser1773=)
c.4779C>T (p.Ser1593=)
c.5106C>T (p.Ser1702=)
c.7917C>T (p.Ser2639=)
c.1662C>T (p.Ser554=)
c.5127C>T (p.Ser1709=)
dbSNP
4g.113369713T>ACA357942890ANK2c.11659T>A (p.Ser3887Thr)
c.5344T>A (p.Ser1782Thr)
c.1945T>A (p.Ser649Thr)
c.2443T>A (p.Ser815Thr)
n.2900T>A
n.2108T>A
n.2852T>A
n.1681T>A
n.3643T>A
n.1624T>A
n.2017T>A
n.8363T>A
n.2989T>A
n.12T>A
n.973T>A
n.3407T>A
n.1622T>A
c.11518T>A (p.Ser3840Thr)
c.11356T>A (p.Ser3786Thr)
c.2650T>A (p.Ser884Thr)
c.973T>A (p.Ser325Thr)
c.5077T>A (p.Ser1693Thr)
c.5164T>A (p.Ser1722Thr)
c.5101T>A (p.Ser1701Thr)
c.5299T>A (p.Ser1767Thr)
c.5200T>A (p.Ser1734Thr)
c.11392T>A (p.Ser3798Thr)
c.5002T>A (p.Ser1668Thr)
c.*756T>A (n.*756T>A)
c.11335T>A (p.Ser3779Thr)
c.4879T>A (p.Ser1627Thr)
c.11332T>A (p.Ser3778Thr)
c.4978T>A (p.Ser1660Thr)
c.11563T>A (p.Ser3855Thr)
c.5113T>A (p.Ser1705Thr)
c.5098T>A (p.Ser1700Thr)
c.11599T>A (p.Ser3867Thr)
c.5086T>A (p.Ser1696Thr)
c.11320T>A (p.Ser3774Thr)
c.5038T>A (p.Ser1680Thr)
c.5236T>A (p.Ser1746Thr)
c.2827T>A (p.Ser943Thr)
c.11419T>A (p.Ser3807Thr)
c.5308T>A (p.Ser1770Thr)
c.11455T>A (p.Ser3819Thr)
c.5065T>A (p.Ser1689Thr)
c.11257T>A (p.Ser3753Thr)
c.5137T>A (p.Ser1713Thr)
c.4681T>A (p.Ser1561Thr)
c.2812T>A (p.Ser938Thr)
c.11233T>A (p.Ser3745Thr)
c.2791T>A (p.Ser931Thr)
c.11464T>A (p.Ser3822Thr)
c.5029T>A (p.Ser1677Thr)
c.4771T>A (p.Ser1591Thr)
c.11293T>A (p.Ser3765Thr)
c.5263T>A (p.Ser1755Thr)
c.2548T>A (p.Ser850Thr)
c.1219T>A (p.Ser407Thr)
c.2267T>A
c.*2879T>A (n.*2879T>A)
c.11551T>A (p.Ser3851Thr)
c.5260T>A (p.Ser1754Thr)
c.11605T>A (p.Ser3869Thr)
c.11569T>A (p.Ser3857Thr)
c.5317T>A (p.Ser1773Thr)
c.5350T>A (p.Ser1784Thr)
c.5281T>A (p.Ser1761Thr)
c.11545T>A (p.Ser3849Thr)
c.11590T>A (p.Ser3864Thr)
c.5275T>A (p.Ser1759Thr)
c.5242T>A (p.Ser1748Thr)
c.5305T>A (p.Ser1769Thr)
c.5161T>A (p.Ser1721Thr)
c.5341T>A (p.Ser1781Thr)
c.5233T>A (p.Ser1745Thr)
c.5197T>A (p.Ser1733Thr)
c.5212T>A (p.Ser1738Thr)
c.5122T>A (p.Ser1708Thr)
c.5050T>A (p.Ser1684Thr)
c.5134T>A (p.Ser1712Thr)
c.4963T>A (p.Ser1655Thr)
c.11635T>A (p.Ser3879Thr)
c.11521T>A (p.Ser3841Thr)
c.11491T>A (p.Ser3831Thr)
c.11554T>A (p.Ser3852Thr)
c.11284T>A (p.Ser3762Thr)
c.5044T>A (p.Ser1682Thr)
c.5089T>A (p.Ser1697Thr)
c.5248T>A (p.Ser1750Thr)
c.5320T>A (p.Ser1774Thr)
c.4780T>A (p.Ser1594Thr)
c.5107T>A (p.Ser1703Thr)
c.7918T>A (p.Ser2640Thr)
c.1663T>A (p.Ser555Thr)
c.5128T>A (p.Ser1710Thr)
dbSNP
4g.113369713T>CCA357942891ANK2c.11659T>C (p.Ser3887Pro)
c.5344T>C (p.Ser1782Pro)
c.1945T>C (p.Ser649Pro)
c.2443T>C (p.Ser815Pro)
n.2900T>C
n.2108T>C
n.2852T>C
n.1681T>C
n.3643T>C
n.1624T>C
n.2017T>C
n.8363T>C
n.2989T>C
n.12T>C
n.973T>C
n.3407T>C
n.1622T>C
c.11518T>C (p.Ser3840Pro)
c.11356T>C (p.Ser3786Pro)
c.2650T>C (p.Ser884Pro)
c.973T>C (p.Ser325Pro)
c.5077T>C (p.Ser1693Pro)
c.5164T>C (p.Ser1722Pro)
c.5101T>C (p.Ser1701Pro)
c.5299T>C (p.Ser1767Pro)
c.5200T>C (p.Ser1734Pro)
c.11392T>C (p.Ser3798Pro)
c.5002T>C (p.Ser1668Pro)
c.*756T>C (n.*756T>C)
c.11335T>C (p.Ser3779Pro)
c.4879T>C (p.Ser1627Pro)
c.11332T>C (p.Ser3778Pro)
c.4978T>C (p.Ser1660Pro)
c.11563T>C (p.Ser3855Pro)
c.5113T>C (p.Ser1705Pro)
c.5098T>C (p.Ser1700Pro)
c.11599T>C (p.Ser3867Pro)
c.5086T>C (p.Ser1696Pro)
c.11320T>C (p.Ser3774Pro)
c.5038T>C (p.Ser1680Pro)
c.5236T>C (p.Ser1746Pro)
c.2827T>C (p.Ser943Pro)
c.11419T>C (p.Ser3807Pro)
c.5308T>C (p.Ser1770Pro)
c.11455T>C (p.Ser3819Pro)
c.5065T>C (p.Ser1689Pro)
c.11257T>C (p.Ser3753Pro)
c.5137T>C (p.Ser1713Pro)
c.4681T>C (p.Ser1561Pro)
c.2812T>C (p.Ser938Pro)
c.11233T>C (p.Ser3745Pro)
c.2791T>C (p.Ser931Pro)
c.11464T>C (p.Ser3822Pro)
c.5029T>C (p.Ser1677Pro)
c.4771T>C (p.Ser1591Pro)
c.11293T>C (p.Ser3765Pro)
c.5263T>C (p.Ser1755Pro)
c.2548T>C (p.Ser850Pro)
c.1219T>C (p.Ser407Pro)
c.2267T>C
c.*2879T>C (n.*2879T>C)
c.11551T>C (p.Ser3851Pro)
c.5260T>C (p.Ser1754Pro)
c.11605T>C (p.Ser3869Pro)
c.11569T>C (p.Ser3857Pro)
c.5317T>C (p.Ser1773Pro)
c.5350T>C (p.Ser1784Pro)
c.5281T>C (p.Ser1761Pro)
c.11545T>C (p.Ser3849Pro)
c.11590T>C (p.Ser3864Pro)
c.5275T>C (p.Ser1759Pro)
c.5242T>C (p.Ser1748Pro)
c.5305T>C (p.Ser1769Pro)
c.5161T>C (p.Ser1721Pro)
c.5341T>C (p.Ser1781Pro)
c.5233T>C (p.Ser1745Pro)
c.5197T>C (p.Ser1733Pro)
c.5212T>C (p.Ser1738Pro)
c.5122T>C (p.Ser1708Pro)
c.5050T>C (p.Ser1684Pro)
c.5134T>C (p.Ser1712Pro)
c.4963T>C (p.Ser1655Pro)
c.11635T>C (p.Ser3879Pro)
c.11521T>C (p.Ser3841Pro)
c.11491T>C (p.Ser3831Pro)
c.11554T>C (p.Ser3852Pro)
c.11284T>C (p.Ser3762Pro)
c.5044T>C (p.Ser1682Pro)
c.5089T>C (p.Ser1697Pro)
c.5248T>C (p.Ser1750Pro)
c.5320T>C (p.Ser1774Pro)
c.4780T>C (p.Ser1594Pro)
c.5107T>C (p.Ser1703Pro)
c.7918T>C (p.Ser2640Pro)
c.1663T>C (p.Ser555Pro)
c.5128T>C (p.Ser1710Pro)
dbSNP gnomAD v4
4g.113369713T>GCA357942889ANK2c.11659T>G (p.Ser3887Ala)
c.5344T>G (p.Ser1782Ala)
c.1945T>G (p.Ser649Ala)
c.2443T>G (p.Ser815Ala)
n.2900T>G
n.2108T>G
n.2852T>G
n.1681T>G
n.3643T>G
n.1624T>G
n.2017T>G
n.8363T>G
n.2989T>G
n.12T>G
n.973T>G
n.3407T>G
n.1622T>G
c.11518T>G (p.Ser3840Ala)
c.11356T>G (p.Ser3786Ala)
c.2650T>G (p.Ser884Ala)
c.973T>G (p.Ser325Ala)
c.5077T>G (p.Ser1693Ala)
c.5164T>G (p.Ser1722Ala)
c.5101T>G (p.Ser1701Ala)
c.5299T>G (p.Ser1767Ala)
c.5200T>G (p.Ser1734Ala)
c.11392T>G (p.Ser3798Ala)
c.5002T>G (p.Ser1668Ala)
c.*756T>G (n.*756T>G)
c.11335T>G (p.Ser3779Ala)
c.4879T>G (p.Ser1627Ala)
c.11332T>G (p.Ser3778Ala)
c.4978T>G (p.Ser1660Ala)
c.11563T>G (p.Ser3855Ala)
c.5113T>G (p.Ser1705Ala)
c.5098T>G (p.Ser1700Ala)
c.11599T>G (p.Ser3867Ala)
c.5086T>G (p.Ser1696Ala)
c.11320T>G (p.Ser3774Ala)
c.5038T>G (p.Ser1680Ala)
c.5236T>G (p.Ser1746Ala)
c.2827T>G (p.Ser943Ala)
c.11419T>G (p.Ser3807Ala)
c.5308T>G (p.Ser1770Ala)
c.11455T>G (p.Ser3819Ala)
c.5065T>G (p.Ser1689Ala)
c.11257T>G (p.Ser3753Ala)
c.5137T>G (p.Ser1713Ala)
c.4681T>G (p.Ser1561Ala)
c.2812T>G (p.Ser938Ala)
c.11233T>G (p.Ser3745Ala)
c.2791T>G (p.Ser931Ala)
c.11464T>G (p.Ser3822Ala)
c.5029T>G (p.Ser1677Ala)
c.4771T>G (p.Ser1591Ala)
c.11293T>G (p.Ser3765Ala)
c.5263T>G (p.Ser1755Ala)
c.2548T>G (p.Ser850Ala)
c.1219T>G (p.Ser407Ala)
c.2267T>G
c.*2879T>G (n.*2879T>G)
c.11551T>G (p.Ser3851Ala)
c.5260T>G (p.Ser1754Ala)
c.11605T>G (p.Ser3869Ala)
c.11569T>G (p.Ser3857Ala)
c.5317T>G (p.Ser1773Ala)
c.5350T>G (p.Ser1784Ala)
c.5281T>G (p.Ser1761Ala)
c.11545T>G (p.Ser3849Ala)
c.11590T>G (p.Ser3864Ala)
c.5275T>G (p.Ser1759Ala)
c.5242T>G (p.Ser1748Ala)
c.5305T>G (p.Ser1769Ala)
c.5161T>G (p.Ser1721Ala)
c.5341T>G (p.Ser1781Ala)
c.5233T>G (p.Ser1745Ala)
c.5197T>G (p.Ser1733Ala)
c.5212T>G (p.Ser1738Ala)
c.5122T>G (p.Ser1708Ala)
c.5050T>G (p.Ser1684Ala)
c.5134T>G (p.Ser1712Ala)
c.4963T>G (p.Ser1655Ala)
c.11635T>G (p.Ser3879Ala)
c.11521T>G (p.Ser3841Ala)
c.11491T>G (p.Ser3831Ala)
c.11554T>G (p.Ser3852Ala)
c.11284T>G (p.Ser3762Ala)
c.5044T>G (p.Ser1682Ala)
c.5089T>G (p.Ser1697Ala)
c.5248T>G (p.Ser1750Ala)
c.5320T>G (p.Ser1774Ala)
c.4780T>G (p.Ser1594Ala)
c.5107T>G (p.Ser1703Ala)
c.7918T>G (p.Ser2640Ala)
c.1663T>G (p.Ser555Ala)
c.5128T>G (p.Ser1710Ala)
dbSNP
4g.113369714C>ACA357942892ANK2c.11660C>A (p.Ser3887Tyr)
c.5345C>A (p.Ser1782Tyr)
c.1946C>A (p.Ser649Tyr)
c.2444C>A (p.Ser815Tyr)
n.2901C>A
n.2109C>A
n.2853C>A
n.1682C>A
n.3644C>A
n.1625C>A
n.2018C>A
n.8364C>A
n.2990C>A
n.13C>A
n.974C>A
n.3408C>A
n.1623C>A
c.11519C>A (p.Ser3840Tyr)
c.11357C>A (p.Ser3786Tyr)
c.2651C>A (p.Ser884Tyr)
c.974C>A (p.Ser325Tyr)
c.5078C>A (p.Ser1693Tyr)
c.5165C>A (p.Ser1722Tyr)
c.5102C>A (p.Ser1701Tyr)
c.5300C>A (p.Ser1767Tyr)
c.5201C>A (p.Ser1734Tyr)
c.11393C>A (p.Ser3798Tyr)
c.5003C>A (p.Ser1668Tyr)
c.*757C>A (n.*757C>A)
c.11336C>A (p.Ser3779Tyr)
c.4880C>A (p.Ser1627Tyr)
c.11333C>A (p.Ser3778Tyr)
c.4979C>A (p.Ser1660Tyr)
c.11564C>A (p.Ser3855Tyr)
c.5114C>A (p.Ser1705Tyr)
c.5099C>A (p.Ser1700Tyr)
c.11600C>A (p.Ser3867Tyr)
c.5087C>A (p.Ser1696Tyr)
c.11321C>A (p.Ser3774Tyr)
c.5039C>A (p.Ser1680Tyr)
c.5237C>A (p.Ser1746Tyr)
c.2828C>A (p.Ser943Tyr)
c.11420C>A (p.Ser3807Tyr)
c.5309C>A (p.Ser1770Tyr)
c.11456C>A (p.Ser3819Tyr)
c.5066C>A (p.Ser1689Tyr)
c.11258C>A (p.Ser3753Tyr)
c.5138C>A (p.Ser1713Tyr)
c.4682C>A (p.Ser1561Tyr)
c.2813C>A (p.Ser938Tyr)
c.11234C>A (p.Ser3745Tyr)
c.2792C>A (p.Ser931Tyr)
c.11465C>A (p.Ser3822Tyr)
c.5030C>A (p.Ser1677Tyr)
c.4772C>A (p.Ser1591Tyr)
c.11294C>A (p.Ser3765Tyr)
c.5264C>A (p.Ser1755Tyr)
c.2549C>A (p.Ser850Tyr)
c.1220C>A (p.Ser407Tyr)
c.2268C>A
c.*2880C>A (n.*2880C>A)
c.11552C>A (p.Ser3851Tyr)
c.5261C>A (p.Ser1754Tyr)
c.11606C>A (p.Ser3869Tyr)
c.11570C>A (p.Ser3857Tyr)
c.5318C>A (p.Ser1773Tyr)
c.5351C>A (p.Ser1784Tyr)
c.5282C>A (p.Ser1761Tyr)
c.11546C>A (p.Ser3849Tyr)
c.11591C>A (p.Ser3864Tyr)
c.5276C>A (p.Ser1759Tyr)
c.5243C>A (p.Ser1748Tyr)
c.5306C>A (p.Ser1769Tyr)
c.5162C>A (p.Ser1721Tyr)
c.5342C>A (p.Ser1781Tyr)
c.5234C>A (p.Ser1745Tyr)
c.5198C>A (p.Ser1733Tyr)
c.5213C>A (p.Ser1738Tyr)
c.5123C>A (p.Ser1708Tyr)
c.5051C>A (p.Ser1684Tyr)
c.5135C>A (p.Ser1712Tyr)
c.4964C>A (p.Ser1655Tyr)
c.11636C>A (p.Ser3879Tyr)
c.11522C>A (p.Ser3841Tyr)
c.11492C>A (p.Ser3831Tyr)
c.11555C>A (p.Ser3852Tyr)
c.11285C>A (p.Ser3762Tyr)
c.5045C>A (p.Ser1682Tyr)
c.5090C>A (p.Ser1697Tyr)
c.5249C>A (p.Ser1750Tyr)
c.5321C>A (p.Ser1774Tyr)
c.4781C>A (p.Ser1594Tyr)
c.5108C>A (p.Ser1703Tyr)
c.7919C>A (p.Ser2640Tyr)
c.1664C>A (p.Ser555Tyr)
c.5129C>A (p.Ser1710Tyr)
dbSNP
4g.113369714C>GCA357942894ANK2c.11660C>G (p.Ser3887Cys)
c.5345C>G (p.Ser1782Cys)
c.1946C>G (p.Ser649Cys)
c.2444C>G (p.Ser815Cys)
n.2901C>G
n.2109C>G
n.2853C>G
n.1682C>G
n.3644C>G
n.1625C>G
n.2018C>G
n.8364C>G
n.2990C>G
n.13C>G
n.974C>G
n.3408C>G
n.1623C>G
c.11519C>G (p.Ser3840Cys)
c.11357C>G (p.Ser3786Cys)
c.2651C>G (p.Ser884Cys)
c.974C>G (p.Ser325Cys)
c.5078C>G (p.Ser1693Cys)
c.5165C>G (p.Ser1722Cys)
c.5102C>G (p.Ser1701Cys)
c.5300C>G (p.Ser1767Cys)
c.5201C>G (p.Ser1734Cys)
c.11393C>G (p.Ser3798Cys)
c.5003C>G (p.Ser1668Cys)
c.*757C>G (n.*757C>G)
c.11336C>G (p.Ser3779Cys)
c.4880C>G (p.Ser1627Cys)
c.11333C>G (p.Ser3778Cys)
c.4979C>G (p.Ser1660Cys)
c.11564C>G (p.Ser3855Cys)
c.5114C>G (p.Ser1705Cys)
c.5099C>G (p.Ser1700Cys)
c.11600C>G (p.Ser3867Cys)
c.5087C>G (p.Ser1696Cys)
c.11321C>G (p.Ser3774Cys)
c.5039C>G (p.Ser1680Cys)
c.5237C>G (p.Ser1746Cys)
c.2828C>G (p.Ser943Cys)
c.11420C>G (p.Ser3807Cys)
c.5309C>G (p.Ser1770Cys)
c.11456C>G (p.Ser3819Cys)
c.5066C>G (p.Ser1689Cys)
c.11258C>G (p.Ser3753Cys)
c.5138C>G (p.Ser1713Cys)
c.4682C>G (p.Ser1561Cys)
c.2813C>G (p.Ser938Cys)
c.11234C>G (p.Ser3745Cys)
c.2792C>G (p.Ser931Cys)
c.11465C>G (p.Ser3822Cys)
c.5030C>G (p.Ser1677Cys)
c.4772C>G (p.Ser1591Cys)
c.11294C>G (p.Ser3765Cys)
c.5264C>G (p.Ser1755Cys)
c.2549C>G (p.Ser850Cys)
c.1220C>G (p.Ser407Cys)
c.2268C>G
c.*2880C>G (n.*2880C>G)
c.11552C>G (p.Ser3851Cys)
c.5261C>G (p.Ser1754Cys)
c.11606C>G (p.Ser3869Cys)
c.11570C>G (p.Ser3857Cys)
c.5318C>G (p.Ser1773Cys)
c.5351C>G (p.Ser1784Cys)
c.5282C>G (p.Ser1761Cys)
c.11546C>G (p.Ser3849Cys)
c.11591C>G (p.Ser3864Cys)
c.5276C>G (p.Ser1759Cys)
c.5243C>G (p.Ser1748Cys)
c.5306C>G (p.Ser1769Cys)
c.5162C>G (p.Ser1721Cys)
c.5342C>G (p.Ser1781Cys)
c.5234C>G (p.Ser1745Cys)
c.5198C>G (p.Ser1733Cys)
c.5213C>G (p.Ser1738Cys)
c.5123C>G (p.Ser1708Cys)
c.5051C>G (p.Ser1684Cys)
c.5135C>G (p.Ser1712Cys)
c.4964C>G (p.Ser1655Cys)
c.11636C>G (p.Ser3879Cys)
c.11522C>G (p.Ser3841Cys)
c.11492C>G (p.Ser3831Cys)
c.11555C>G (p.Ser3852Cys)
c.11285C>G (p.Ser3762Cys)
c.5045C>G (p.Ser1682Cys)
c.5090C>G (p.Ser1697Cys)
c.5249C>G (p.Ser1750Cys)
c.5321C>G (p.Ser1774Cys)
c.4781C>G (p.Ser1594Cys)
c.5108C>G (p.Ser1703Cys)
c.7919C>G (p.Ser2640Cys)
c.1664C>G (p.Ser555Cys)
c.5129C>G (p.Ser1710Cys)
dbSNP
4g.113369714C>TCA357942895ANK2c.11660C>T (p.Ser3887Phe)
c.5345C>T (p.Ser1782Phe)
c.1946C>T (p.Ser649Phe)
c.2444C>T (p.Ser815Phe)
n.2901C>T
n.2109C>T
n.2853C>T
n.1682C>T
n.3644C>T
n.1625C>T
n.2018C>T
n.8364C>T
n.2990C>T
n.13C>T
n.974C>T
n.3408C>T
n.1623C>T
c.11519C>T (p.Ser3840Phe)
c.11357C>T (p.Ser3786Phe)
c.2651C>T (p.Ser884Phe)
c.974C>T (p.Ser325Phe)
c.5078C>T (p.Ser1693Phe)
c.5165C>T (p.Ser1722Phe)
c.5102C>T (p.Ser1701Phe)
c.5300C>T (p.Ser1767Phe)
c.5201C>T (p.Ser1734Phe)
c.11393C>T (p.Ser3798Phe)
c.5003C>T (p.Ser1668Phe)
c.*757C>T (n.*757C>T)
c.11336C>T (p.Ser3779Phe)
c.4880C>T (p.Ser1627Phe)
c.11333C>T (p.Ser3778Phe)
c.4979C>T (p.Ser1660Phe)
c.11564C>T (p.Ser3855Phe)
c.5114C>T (p.Ser1705Phe)
c.5099C>T (p.Ser1700Phe)
c.11600C>T (p.Ser3867Phe)
c.5087C>T (p.Ser1696Phe)
c.11321C>T (p.Ser3774Phe)
c.5039C>T (p.Ser1680Phe)
c.5237C>T (p.Ser1746Phe)
c.2828C>T (p.Ser943Phe)
c.11420C>T (p.Ser3807Phe)
c.5309C>T (p.Ser1770Phe)
c.11456C>T (p.Ser3819Phe)
c.5066C>T (p.Ser1689Phe)
c.11258C>T (p.Ser3753Phe)
c.5138C>T (p.Ser1713Phe)
c.4682C>T (p.Ser1561Phe)
c.2813C>T (p.Ser938Phe)
c.11234C>T (p.Ser3745Phe)
c.2792C>T (p.Ser931Phe)
c.11465C>T (p.Ser3822Phe)
c.5030C>T (p.Ser1677Phe)
c.4772C>T (p.Ser1591Phe)
c.11294C>T (p.Ser3765Phe)
c.5264C>T (p.Ser1755Phe)
c.2549C>T (p.Ser850Phe)
c.1220C>T (p.Ser407Phe)
c.2268C>T
c.*2880C>T (n.*2880C>T)
c.11552C>T (p.Ser3851Phe)
c.5261C>T (p.Ser1754Phe)
c.11606C>T (p.Ser3869Phe)
c.11570C>T (p.Ser3857Phe)
c.5318C>T (p.Ser1773Phe)
c.5351C>T (p.Ser1784Phe)
c.5282C>T (p.Ser1761Phe)
c.11546C>T (p.Ser3849Phe)
c.11591C>T (p.Ser3864Phe)
c.5276C>T (p.Ser1759Phe)
c.5243C>T (p.Ser1748Phe)
c.5306C>T (p.Ser1769Phe)
c.5162C>T (p.Ser1721Phe)
c.5342C>T (p.Ser1781Phe)
c.5234C>T (p.Ser1745Phe)
c.5198C>T (p.Ser1733Phe)
c.5213C>T (p.Ser1738Phe)
c.5123C>T (p.Ser1708Phe)
c.5051C>T (p.Ser1684Phe)
c.5135C>T (p.Ser1712Phe)
c.4964C>T (p.Ser1655Phe)
c.11636C>T (p.Ser3879Phe)
c.11522C>T (p.Ser3841Phe)
c.11492C>T (p.Ser3831Phe)
c.11555C>T (p.Ser3852Phe)
c.11285C>T (p.Ser3762Phe)
c.5045C>T (p.Ser1682Phe)
c.5090C>T (p.Ser1697Phe)
c.5249C>T (p.Ser1750Phe)
c.5321C>T (p.Ser1774Phe)
c.4781C>T (p.Ser1594Phe)
c.5108C>T (p.Ser1703Phe)
c.7919C>T (p.Ser2640Phe)
c.1664C>T (p.Ser555Phe)
c.5129C>T (p.Ser1710Phe)
dbSNP
4g.113369715T>ACA440835934ANK2c.11661T>A (p.Ser3887=)
c.5346T>A (p.Ser1782=)
c.1947T>A (p.Ser649=)
c.2445T>A (p.Ser815=)
n.2902T>A
n.2110T>A
n.2854T>A
n.1683T>A
n.3645T>A
n.1626T>A
n.2019T>A
n.8365T>A
n.2991T>A
n.14T>A
n.975T>A
n.3409T>A
n.1624T>A
c.11520T>A (p.Ser3840=)
c.11358T>A (p.Ser3786=)
c.2652T>A (p.Ser884=)
c.975T>A (p.Ser325=)
c.5079T>A (p.Ser1693=)
c.5166T>A (p.Ser1722=)
c.5103T>A (p.Ser1701=)
c.5301T>A (p.Ser1767=)
c.5202T>A (p.Ser1734=)
c.11394T>A (p.Ser3798=)
c.5004T>A (p.Ser1668=)
c.*758T>A (n.*758T>A)
c.11337T>A (p.Ser3779=)
c.4881T>A (p.Ser1627=)
c.11334T>A (p.Ser3778=)
c.4980T>A (p.Ser1660=)
c.11565T>A (p.Ser3855=)
c.5115T>A (p.Ser1705=)
c.5100T>A (p.Ser1700=)
c.11601T>A (p.Ser3867=)
c.5088T>A (p.Ser1696=)
c.11322T>A (p.Ser3774=)
c.5040T>A (p.Ser1680=)
c.5238T>A (p.Ser1746=)
c.2829T>A (p.Ser943=)
c.11421T>A (p.Ser3807=)
c.5310T>A (p.Ser1770=)
c.11457T>A (p.Ser3819=)
c.5067T>A (p.Ser1689=)
c.11259T>A (p.Ser3753=)
c.5139T>A (p.Ser1713=)
c.4683T>A (p.Ser1561=)
c.2814T>A (p.Ser938=)
c.11235T>A (p.Ser3745=)
c.2793T>A (p.Ser931=)
c.11466T>A (p.Ser3822=)
c.5031T>A (p.Ser1677=)
c.4773T>A (p.Ser1591=)
c.11295T>A (p.Ser3765=)
c.5265T>A (p.Ser1755=)
c.2550T>A (p.Ser850=)
c.1221T>A (p.Ser407=)
c.2269T>A
c.*2881T>A (n.*2881T>A)
c.11553T>A (p.Ser3851=)
c.5262T>A (p.Ser1754=)
c.11607T>A (p.Ser3869=)
c.11571T>A (p.Ser3857=)
c.5319T>A (p.Ser1773=)
c.5352T>A (p.Ser1784=)
c.5283T>A (p.Ser1761=)
c.11547T>A (p.Ser3849=)
c.11592T>A (p.Ser3864=)
c.5277T>A (p.Ser1759=)
c.5244T>A (p.Ser1748=)
c.5307T>A (p.Ser1769=)
c.5163T>A (p.Ser1721=)
c.5343T>A (p.Ser1781=)
c.5235T>A (p.Ser1745=)
c.5199T>A (p.Ser1733=)
c.5214T>A (p.Ser1738=)
c.5124T>A (p.Ser1708=)
c.5052T>A (p.Ser1684=)
c.5136T>A (p.Ser1712=)
c.4965T>A (p.Ser1655=)
c.11637T>A (p.Ser3879=)
c.11523T>A (p.Ser3841=)
c.11493T>A (p.Ser3831=)
c.11556T>A (p.Ser3852=)
c.11286T>A (p.Ser3762=)
c.5046T>A (p.Ser1682=)
c.5091T>A (p.Ser1697=)
c.5250T>A (p.Ser1750=)
c.5322T>A (p.Ser1774=)
c.4782T>A (p.Ser1594=)
c.5109T>A (p.Ser1703=)
c.7920T>A (p.Ser2640=)
c.1665T>A (p.Ser555=)
c.5130T>A (p.Ser1710=)
4g.113369715T>CCA440835937ANK2c.11661T>C (p.Ser3887=)
c.5346T>C (p.Ser1782=)
c.1947T>C (p.Ser649=)
c.2445T>C (p.Ser815=)
n.2902T>C
n.2110T>C
n.2854T>C
n.1683T>C
n.3645T>C
n.1626T>C
n.2019T>C
n.8365T>C
n.2991T>C
n.14T>C
n.975T>C
n.3409T>C
n.1624T>C
c.11520T>C (p.Ser3840=)
c.11358T>C (p.Ser3786=)
c.2652T>C (p.Ser884=)
c.975T>C (p.Ser325=)
c.5079T>C (p.Ser1693=)
c.5166T>C (p.Ser1722=)
c.5103T>C (p.Ser1701=)
c.5301T>C (p.Ser1767=)
c.5202T>C (p.Ser1734=)
c.11394T>C (p.Ser3798=)
c.5004T>C (p.Ser1668=)
c.*758T>C (n.*758T>C)
c.11337T>C (p.Ser3779=)
c.4881T>C (p.Ser1627=)
c.11334T>C (p.Ser3778=)
c.4980T>C (p.Ser1660=)
c.11565T>C (p.Ser3855=)
c.5115T>C (p.Ser1705=)
c.5100T>C (p.Ser1700=)
c.11601T>C (p.Ser3867=)
c.5088T>C (p.Ser1696=)
c.11322T>C (p.Ser3774=)
c.5040T>C (p.Ser1680=)
c.5238T>C (p.Ser1746=)
c.2829T>C (p.Ser943=)
c.11421T>C (p.Ser3807=)
c.5310T>C (p.Ser1770=)
c.11457T>C (p.Ser3819=)
c.5067T>C (p.Ser1689=)
c.11259T>C (p.Ser3753=)
c.5139T>C (p.Ser1713=)
c.4683T>C (p.Ser1561=)
c.2814T>C (p.Ser938=)
c.11235T>C (p.Ser3745=)
c.2793T>C (p.Ser931=)
c.11466T>C (p.Ser3822=)
c.5031T>C (p.Ser1677=)
c.4773T>C (p.Ser1591=)
c.11295T>C (p.Ser3765=)
c.5265T>C (p.Ser1755=)
c.2550T>C (p.Ser850=)
c.1221T>C (p.Ser407=)
c.2269T>C
c.*2881T>C (n.*2881T>C)
c.11553T>C (p.Ser3851=)
c.5262T>C (p.Ser1754=)
c.11607T>C (p.Ser3869=)
c.11571T>C (p.Ser3857=)
c.5319T>C (p.Ser1773=)
c.5352T>C (p.Ser1784=)
c.5283T>C (p.Ser1761=)
c.11547T>C (p.Ser3849=)
c.11592T>C (p.Ser3864=)
c.5277T>C (p.Ser1759=)
c.5244T>C (p.Ser1748=)
c.5307T>C (p.Ser1769=)
c.5163T>C (p.Ser1721=)
c.5343T>C (p.Ser1781=)
c.5235T>C (p.Ser1745=)
c.5199T>C (p.Ser1733=)
c.5214T>C (p.Ser1738=)
c.5124T>C (p.Ser1708=)
c.5052T>C (p.Ser1684=)
c.5136T>C (p.Ser1712=)
c.4965T>C (p.Ser1655=)
c.11637T>C (p.Ser3879=)
c.11523T>C (p.Ser3841=)
c.11493T>C (p.Ser3831=)
c.11556T>C (p.Ser3852=)
c.11286T>C (p.Ser3762=)
c.5046T>C (p.Ser1682=)
c.5091T>C (p.Ser1697=)
c.5250T>C (p.Ser1750=)
c.5322T>C (p.Ser1774=)
c.4782T>C (p.Ser1594=)
c.5109T>C (p.Ser1703=)
c.7920T>C (p.Ser2640=)
c.1665T>C (p.Ser555=)
c.5130T>C (p.Ser1710=)
dbSNP
4g.113369715T>GCA440835939ANK2c.11661T>G (p.Ser3887=)
c.5346T>G (p.Ser1782=)
c.1947T>G (p.Ser649=)
c.2445T>G (p.Ser815=)
n.2902T>G
n.2110T>G
n.2854T>G
n.1683T>G
n.3645T>G
n.1626T>G
n.2019T>G
n.8365T>G
n.2991T>G
n.14T>G
n.975T>G
n.3409T>G
n.1624T>G
c.11520T>G (p.Ser3840=)
c.11358T>G (p.Ser3786=)
c.2652T>G (p.Ser884=)
c.975T>G (p.Ser325=)
c.5079T>G (p.Ser1693=)
c.5166T>G (p.Ser1722=)
c.5103T>G (p.Ser1701=)
c.5301T>G (p.Ser1767=)
c.5202T>G (p.Ser1734=)
c.11394T>G (p.Ser3798=)
c.5004T>G (p.Ser1668=)
c.*758T>G (n.*758T>G)
c.11337T>G (p.Ser3779=)
c.4881T>G (p.Ser1627=)
c.11334T>G (p.Ser3778=)
c.4980T>G (p.Ser1660=)
c.11565T>G (p.Ser3855=)
c.5115T>G (p.Ser1705=)
c.5100T>G (p.Ser1700=)
c.11601T>G (p.Ser3867=)
c.5088T>G (p.Ser1696=)
c.11322T>G (p.Ser3774=)
c.5040T>G (p.Ser1680=)
c.5238T>G (p.Ser1746=)
c.2829T>G (p.Ser943=)
c.11421T>G (p.Ser3807=)
c.5310T>G (p.Ser1770=)
c.11457T>G (p.Ser3819=)
c.5067T>G (p.Ser1689=)
c.11259T>G (p.Ser3753=)
c.5139T>G (p.Ser1713=)
c.4683T>G (p.Ser1561=)
c.2814T>G (p.Ser938=)
c.11235T>G (p.Ser3745=)
c.2793T>G (p.Ser931=)
c.11466T>G (p.Ser3822=)
c.5031T>G (p.Ser1677=)
c.4773T>G (p.Ser1591=)
c.11295T>G (p.Ser3765=)
c.5265T>G (p.Ser1755=)
c.2550T>G (p.Ser850=)
c.1221T>G (p.Ser407=)
c.2269T>G
c.*2881T>G (n.*2881T>G)
c.11553T>G (p.Ser3851=)
c.5262T>G (p.Ser1754=)
c.11607T>G (p.Ser3869=)
c.11571T>G (p.Ser3857=)
c.5319T>G (p.Ser1773=)
c.5352T>G (p.Ser1784=)
c.5283T>G (p.Ser1761=)
c.11547T>G (p.Ser3849=)
c.11592T>G (p.Ser3864=)
c.5277T>G (p.Ser1759=)
c.5244T>G (p.Ser1748=)
c.5307T>G (p.Ser1769=)
c.5163T>G (p.Ser1721=)
c.5343T>G (p.Ser1781=)
c.5235T>G (p.Ser1745=)
c.5199T>G (p.Ser1733=)
c.5214T>G (p.Ser1738=)
c.5124T>G (p.Ser1708=)
c.5052T>G (p.Ser1684=)
c.5136T>G (p.Ser1712=)
c.4965T>G (p.Ser1655=)
c.11637T>G (p.Ser3879=)
c.11523T>G (p.Ser3841=)
c.11493T>G (p.Ser3831=)
c.11556T>G (p.Ser3852=)
c.11286T>G (p.Ser3762=)
c.5046T>G (p.Ser1682=)
c.5091T>G (p.Ser1697=)
c.5250T>G (p.Ser1750=)
c.5322T>G (p.Ser1774=)
c.4782T>G (p.Ser1594=)
c.5109T>G (p.Ser1703=)
c.7920T>G (p.Ser2640=)
c.1665T>G (p.Ser555=)
c.5130T>G (p.Ser1710=)
4g.113369716C>ACA357942897ANK2c.11662C>A (p.Pro3888Thr)
c.5347C>A (p.Pro1783Thr)
c.1948C>A (p.Pro650Thr)
c.2446C>A (p.Pro816Thr)
n.2903C>A
n.2111C>A
n.2855C>A
n.1684C>A
n.3646C>A
n.1627C>A
n.2020C>A
n.8366C>A
n.2992C>A
n.15C>A
n.976C>A
n.3410C>A
n.1625C>A
c.11521C>A (p.Pro3841Thr)
c.11359C>A (p.Pro3787Thr)
c.2653C>A (p.Pro885Thr)
c.976C>A (p.Pro326Thr)
c.5080C>A (p.Pro1694Thr)
c.5167C>A (p.Pro1723Thr)
c.5104C>A (p.Pro1702Thr)
c.5302C>A (p.Pro1768Thr)
c.5203C>A (p.Pro1735Thr)
c.11395C>A (p.Pro3799Thr)
c.5005C>A (p.Pro1669Thr)
c.*759C>A (n.*759C>A)
c.11338C>A (p.Pro3780Thr)
c.4882C>A (p.Pro1628Thr)
c.11335C>A (p.Pro3779Thr)
c.4981C>A (p.Pro1661Thr)
c.11566C>A (p.Pro3856Thr)
c.5116C>A (p.Pro1706Thr)
c.5101C>A (p.Pro1701Thr)
c.11602C>A (p.Pro3868Thr)
c.5089C>A (p.Pro1697Thr)
c.11323C>A (p.Pro3775Thr)
c.5041C>A (p.Pro1681Thr)
c.5239C>A (p.Pro1747Thr)
c.2830C>A (p.Pro944Thr)
c.11422C>A (p.Pro3808Thr)
c.5311C>A (p.Pro1771Thr)
c.11458C>A (p.Pro3820Thr)
c.5068C>A (p.Pro1690Thr)
c.11260C>A (p.Pro3754Thr)
c.5140C>A (p.Pro1714Thr)
c.4684C>A (p.Pro1562Thr)
c.2815C>A (p.Pro939Thr)
c.11236C>A (p.Pro3746Thr)
c.2794C>A (p.Pro932Thr)
c.11467C>A (p.Pro3823Thr)
c.5032C>A (p.Pro1678Thr)
c.4774C>A (p.Pro1592Thr)
c.11296C>A (p.Pro3766Thr)
c.5266C>A (p.Pro1756Thr)
c.2551C>A (p.Pro851Thr)
c.1222C>A (p.Pro408Thr)
c.2270C>A
c.*2882C>A (n.*2882C>A)
c.11554C>A (p.Pro3852Thr)
c.5263C>A (p.Pro1755Thr)
c.11608C>A (p.Pro3870Thr)
c.11572C>A (p.Pro3858Thr)
c.5320C>A (p.Pro1774Thr)
c.5353C>A (p.Pro1785Thr)
c.5284C>A (p.Pro1762Thr)
c.11548C>A (p.Pro3850Thr)
c.11593C>A (p.Pro3865Thr)
c.5278C>A (p.Pro1760Thr)
c.5245C>A (p.Pro1749Thr)
c.5308C>A (p.Pro1770Thr)
c.5164C>A (p.Pro1722Thr)
c.5344C>A (p.Pro1782Thr)
c.5236C>A (p.Pro1746Thr)
c.5200C>A (p.Pro1734Thr)
c.5215C>A (p.Pro1739Thr)
c.5125C>A (p.Pro1709Thr)
c.5053C>A (p.Pro1685Thr)
c.5137C>A (p.Pro1713Thr)
c.4966C>A (p.Pro1656Thr)
c.11638C>A (p.Pro3880Thr)
c.11524C>A (p.Pro3842Thr)
c.11494C>A (p.Pro3832Thr)
c.11557C>A (p.Pro3853Thr)
c.11287C>A (p.Pro3763Thr)
c.5047C>A (p.Pro1683Thr)
c.5092C>A (p.Pro1698Thr)
c.5251C>A (p.Pro1751Thr)
c.5323C>A (p.Pro1775Thr)
c.4783C>A (p.Pro1595Thr)
c.5110C>A (p.Pro1704Thr)
c.7921C>A (p.Pro2641Thr)
c.1666C>A (p.Pro556Thr)
c.5131C>A (p.Pro1711Thr)
dbSNP
4g.113369716C>GCA357942898ANK2c.11662C>G (p.Pro3888Ala)
c.5347C>G (p.Pro1783Ala)
c.1948C>G (p.Pro650Ala)
c.2446C>G (p.Pro816Ala)
n.2903C>G
n.2111C>G
n.2855C>G
n.1684C>G
n.3646C>G
n.1627C>G
n.2020C>G
n.8366C>G
n.2992C>G
n.15C>G
n.976C>G
n.3410C>G
n.1625C>G
c.11521C>G (p.Pro3841Ala)
c.11359C>G (p.Pro3787Ala)
c.2653C>G (p.Pro885Ala)
c.976C>G (p.Pro326Ala)
c.5080C>G (p.Pro1694Ala)
c.5167C>G (p.Pro1723Ala)
c.5104C>G (p.Pro1702Ala)
c.5302C>G (p.Pro1768Ala)
c.5203C>G (p.Pro1735Ala)
c.11395C>G (p.Pro3799Ala)
c.5005C>G (p.Pro1669Ala)
c.*759C>G (n.*759C>G)
c.11338C>G (p.Pro3780Ala)
c.4882C>G (p.Pro1628Ala)
c.11335C>G (p.Pro3779Ala)
c.4981C>G (p.Pro1661Ala)
c.11566C>G (p.Pro3856Ala)
c.5116C>G (p.Pro1706Ala)
c.5101C>G (p.Pro1701Ala)
c.11602C>G (p.Pro3868Ala)
c.5089C>G (p.Pro1697Ala)
c.11323C>G (p.Pro3775Ala)
c.5041C>G (p.Pro1681Ala)
c.5239C>G (p.Pro1747Ala)
c.2830C>G (p.Pro944Ala)
c.11422C>G (p.Pro3808Ala)
c.5311C>G (p.Pro1771Ala)
c.11458C>G (p.Pro3820Ala)
c.5068C>G (p.Pro1690Ala)
c.11260C>G (p.Pro3754Ala)
c.5140C>G (p.Pro1714Ala)
c.4684C>G (p.Pro1562Ala)
c.2815C>G (p.Pro939Ala)
c.11236C>G (p.Pro3746Ala)
c.2794C>G (p.Pro932Ala)
c.11467C>G (p.Pro3823Ala)
c.5032C>G (p.Pro1678Ala)
c.4774C>G (p.Pro1592Ala)
c.11296C>G (p.Pro3766Ala)
c.5266C>G (p.Pro1756Ala)
c.2551C>G (p.Pro851Ala)
c.1222C>G (p.Pro408Ala)
c.2270C>G
c.*2882C>G (n.*2882C>G)
c.11554C>G (p.Pro3852Ala)
c.5263C>G (p.Pro1755Ala)
c.11608C>G (p.Pro3870Ala)
c.11572C>G (p.Pro3858Ala)
c.5320C>G (p.Pro1774Ala)
c.5353C>G (p.Pro1785Ala)
c.5284C>G (p.Pro1762Ala)
c.11548C>G (p.Pro3850Ala)
c.11593C>G (p.Pro3865Ala)
c.5278C>G (p.Pro1760Ala)
c.5245C>G (p.Pro1749Ala)
c.5308C>G (p.Pro1770Ala)
c.5164C>G (p.Pro1722Ala)
c.5344C>G (p.Pro1782Ala)
c.5236C>G (p.Pro1746Ala)
c.5200C>G (p.Pro1734Ala)
c.5215C>G (p.Pro1739Ala)
c.5125C>G (p.Pro1709Ala)
c.5053C>G (p.Pro1685Ala)
c.5137C>G (p.Pro1713Ala)
c.4966C>G (p.Pro1656Ala)
c.11638C>G (p.Pro3880Ala)
c.11524C>G (p.Pro3842Ala)
c.11494C>G (p.Pro3832Ala)
c.11557C>G (p.Pro3853Ala)
c.11287C>G (p.Pro3763Ala)
c.5047C>G (p.Pro1683Ala)
c.5092C>G (p.Pro1698Ala)
c.5251C>G (p.Pro1751Ala)
c.5323C>G (p.Pro1775Ala)
c.4783C>G (p.Pro1595Ala)
c.5110C>G (p.Pro1704Ala)
c.7921C>G (p.Pro2641Ala)
c.1666C>G (p.Pro556Ala)
c.5131C>G (p.Pro1711Ala)
4g.113369716C>TCA357942899ANK2c.11662C>T (p.Pro3888Ser)
c.5347C>T (p.Pro1783Ser)
c.1948C>T (p.Pro650Ser)
c.2446C>T (p.Pro816Ser)
n.2903C>T
n.2111C>T
n.2855C>T
n.1684C>T
n.3646C>T
n.1627C>T
n.2020C>T
n.8366C>T
n.2992C>T
n.15C>T
n.976C>T
n.3410C>T
n.1625C>T
c.11521C>T (p.Pro3841Ser)
c.11359C>T (p.Pro3787Ser)
c.2653C>T (p.Pro885Ser)
c.976C>T (p.Pro326Ser)
c.5080C>T (p.Pro1694Ser)
c.5167C>T (p.Pro1723Ser)
c.5104C>T (p.Pro1702Ser)
c.5302C>T (p.Pro1768Ser)
c.5203C>T (p.Pro1735Ser)
c.11395C>T (p.Pro3799Ser)
c.5005C>T (p.Pro1669Ser)
c.*759C>T (n.*759C>T)
c.11338C>T (p.Pro3780Ser)
c.4882C>T (p.Pro1628Ser)
c.11335C>T (p.Pro3779Ser)
c.4981C>T (p.Pro1661Ser)
c.11566C>T (p.Pro3856Ser)
c.5116C>T (p.Pro1706Ser)
c.5101C>T (p.Pro1701Ser)
c.11602C>T (p.Pro3868Ser)
c.5089C>T (p.Pro1697Ser)
c.11323C>T (p.Pro3775Ser)
c.5041C>T (p.Pro1681Ser)
c.5239C>T (p.Pro1747Ser)
c.2830C>T (p.Pro944Ser)
c.11422C>T (p.Pro3808Ser)
c.5311C>T (p.Pro1771Ser)
c.11458C>T (p.Pro3820Ser)
c.5068C>T (p.Pro1690Ser)
c.11260C>T (p.Pro3754Ser)
c.5140C>T (p.Pro1714Ser)
c.4684C>T (p.Pro1562Ser)
c.2815C>T (p.Pro939Ser)
c.11236C>T (p.Pro3746Ser)
c.2794C>T (p.Pro932Ser)
c.11467C>T (p.Pro3823Ser)
c.5032C>T (p.Pro1678Ser)
c.4774C>T (p.Pro1592Ser)
c.11296C>T (p.Pro3766Ser)
c.5266C>T (p.Pro1756Ser)
c.2551C>T (p.Pro851Ser)
c.1222C>T (p.Pro408Ser)
c.2270C>T
c.*2882C>T (n.*2882C>T)
c.11554C>T (p.Pro3852Ser)
c.5263C>T (p.Pro1755Ser)
c.11608C>T (p.Pro3870Ser)
c.11572C>T (p.Pro3858Ser)
c.5320C>T (p.Pro1774Ser)
c.5353C>T (p.Pro1785Ser)
c.5284C>T (p.Pro1762Ser)
c.11548C>T (p.Pro3850Ser)
c.11593C>T (p.Pro3865Ser)
c.5278C>T (p.Pro1760Ser)
c.5245C>T (p.Pro1749Ser)
c.5308C>T (p.Pro1770Ser)
c.5164C>T (p.Pro1722Ser)
c.5344C>T (p.Pro1782Ser)
c.5236C>T (p.Pro1746Ser)
c.5200C>T (p.Pro1734Ser)
c.5215C>T (p.Pro1739Ser)
c.5125C>T (p.Pro1709Ser)
c.5053C>T (p.Pro1685Ser)
c.5137C>T (p.Pro1713Ser)
c.4966C>T (p.Pro1656Ser)
c.11638C>T (p.Pro3880Ser)
c.11524C>T (p.Pro3842Ser)
c.11494C>T (p.Pro3832Ser)
c.11557C>T (p.Pro3853Ser)
c.11287C>T (p.Pro3763Ser)
c.5047C>T (p.Pro1683Ser)
c.5092C>T (p.Pro1698Ser)
c.5251C>T (p.Pro1751Ser)
c.5323C>T (p.Pro1775Ser)
c.4783C>T (p.Pro1595Ser)
c.5110C>T (p.Pro1704Ser)
c.7921C>T (p.Pro2641Ser)
c.1666C>T (p.Pro556Ser)
c.5131C>T (p.Pro1711Ser)
dbSNP gnomAD v4
4g.113369717C>ACA357942900ANK2c.11663C>A (p.Pro3888Gln)
c.5348C>A (p.Pro1783Gln)
c.1949C>A (p.Pro650Gln)
c.2447C>A (p.Pro816Gln)
n.2904C>A
n.2112C>A
n.2856C>A
n.1685C>A
n.3647C>A
n.1628C>A
n.2021C>A
n.8367C>A
n.2993C>A
n.16C>A
n.977C>A
n.3411C>A
n.1626C>A
c.11522C>A (p.Pro3841Gln)
c.11360C>A (p.Pro3787Gln)
c.2654C>A (p.Pro885Gln)
c.977C>A (p.Pro326Gln)
c.5081C>A (p.Pro1694Gln)
c.5168C>A (p.Pro1723Gln)
c.5105C>A (p.Pro1702Gln)
c.5303C>A (p.Pro1768Gln)
c.5204C>A (p.Pro1735Gln)
c.11396C>A (p.Pro3799Gln)
c.5006C>A (p.Pro1669Gln)
c.*760C>A (n.*760C>A)
c.11339C>A (p.Pro3780Gln)
c.4883C>A (p.Pro1628Gln)
c.11336C>A (p.Pro3779Gln)
c.4982C>A (p.Pro1661Gln)
c.11567C>A (p.Pro3856Gln)
c.5117C>A (p.Pro1706Gln)
c.5102C>A (p.Pro1701Gln)
c.11603C>A (p.Pro3868Gln)
c.5090C>A (p.Pro1697Gln)
c.11324C>A (p.Pro3775Gln)
c.5042C>A (p.Pro1681Gln)
c.5240C>A (p.Pro1747Gln)
c.2831C>A (p.Pro944Gln)
c.11423C>A (p.Pro3808Gln)
c.5312C>A (p.Pro1771Gln)
c.11459C>A (p.Pro3820Gln)
c.5069C>A (p.Pro1690Gln)
c.11261C>A (p.Pro3754Gln)
c.5141C>A (p.Pro1714Gln)
c.4685C>A (p.Pro1562Gln)
c.2816C>A (p.Pro939Gln)
c.11237C>A (p.Pro3746Gln)
c.2795C>A (p.Pro932Gln)
c.11468C>A (p.Pro3823Gln)
c.5033C>A (p.Pro1678Gln)
c.4775C>A (p.Pro1592Gln)
c.11297C>A (p.Pro3766Gln)
c.5267C>A (p.Pro1756Gln)
c.2552C>A (p.Pro851Gln)
c.1223C>A (p.Pro408Gln)
c.2271C>A
c.*2883C>A (n.*2883C>A)
c.11555C>A (p.Pro3852Gln)
c.5264C>A (p.Pro1755Gln)
c.11609C>A (p.Pro3870Gln)
c.11573C>A (p.Pro3858Gln)
c.5321C>A (p.Pro1774Gln)
c.5354C>A (p.Pro1785Gln)
c.5285C>A (p.Pro1762Gln)
c.11549C>A (p.Pro3850Gln)
c.11594C>A (p.Pro3865Gln)
c.5279C>A (p.Pro1760Gln)
c.5246C>A (p.Pro1749Gln)
c.5309C>A (p.Pro1770Gln)
c.5165C>A (p.Pro1722Gln)
c.5345C>A (p.Pro1782Gln)
c.5237C>A (p.Pro1746Gln)
c.5201C>A (p.Pro1734Gln)
c.5216C>A (p.Pro1739Gln)
c.5126C>A (p.Pro1709Gln)
c.5054C>A (p.Pro1685Gln)
c.5138C>A (p.Pro1713Gln)
c.4967C>A (p.Pro1656Gln)
c.11639C>A (p.Pro3880Gln)
c.11525C>A (p.Pro3842Gln)
c.11495C>A (p.Pro3832Gln)
c.11558C>A (p.Pro3853Gln)
c.11288C>A (p.Pro3763Gln)
c.5048C>A (p.Pro1683Gln)
c.5093C>A (p.Pro1698Gln)
c.5252C>A (p.Pro1751Gln)
c.5324C>A (p.Pro1775Gln)
c.4784C>A (p.Pro1595Gln)
c.5111C>A (p.Pro1704Gln)
c.7922C>A (p.Pro2641Gln)
c.1667C>A (p.Pro556Gln)
c.5132C>A (p.Pro1711Gln)
dbSNP gnomAD v2 gnomAD v4
4g.113369717C>GCA357942901ANK2c.11663C>G (p.Pro3888Arg)
c.5348C>G (p.Pro1783Arg)
c.1949C>G (p.Pro650Arg)
c.2447C>G (p.Pro816Arg)
n.2904C>G
n.2112C>G
n.2856C>G
n.1685C>G
n.3647C>G
n.1628C>G
n.2021C>G
n.8367C>G
n.2993C>G
n.16C>G
n.977C>G
n.3411C>G
n.1626C>G
c.11522C>G (p.Pro3841Arg)
c.11360C>G (p.Pro3787Arg)
c.2654C>G (p.Pro885Arg)
c.977C>G (p.Pro326Arg)
c.5081C>G (p.Pro1694Arg)
c.5168C>G (p.Pro1723Arg)
c.5105C>G (p.Pro1702Arg)
c.5303C>G (p.Pro1768Arg)
c.5204C>G (p.Pro1735Arg)
c.11396C>G (p.Pro3799Arg)
c.5006C>G (p.Pro1669Arg)
c.*760C>G (n.*760C>G)
c.11339C>G (p.Pro3780Arg)
c.4883C>G (p.Pro1628Arg)
c.11336C>G (p.Pro3779Arg)
c.4982C>G (p.Pro1661Arg)
c.11567C>G (p.Pro3856Arg)
c.5117C>G (p.Pro1706Arg)
c.5102C>G (p.Pro1701Arg)
c.11603C>G (p.Pro3868Arg)
c.5090C>G (p.Pro1697Arg)
c.11324C>G (p.Pro3775Arg)
c.5042C>G (p.Pro1681Arg)
c.5240C>G (p.Pro1747Arg)
c.2831C>G (p.Pro944Arg)
c.11423C>G (p.Pro3808Arg)
c.5312C>G (p.Pro1771Arg)
c.11459C>G (p.Pro3820Arg)
c.5069C>G (p.Pro1690Arg)
c.11261C>G (p.Pro3754Arg)
c.5141C>G (p.Pro1714Arg)
c.4685C>G (p.Pro1562Arg)
c.2816C>G (p.Pro939Arg)
c.11237C>G (p.Pro3746Arg)
c.2795C>G (p.Pro932Arg)
c.11468C>G (p.Pro3823Arg)
c.5033C>G (p.Pro1678Arg)
c.4775C>G (p.Pro1592Arg)
c.11297C>G (p.Pro3766Arg)
c.5267C>G (p.Pro1756Arg)
c.2552C>G (p.Pro851Arg)
c.1223C>G (p.Pro408Arg)
c.2271C>G
c.*2883C>G (n.*2883C>G)
c.11555C>G (p.Pro3852Arg)
c.5264C>G (p.Pro1755Arg)
c.11609C>G (p.Pro3870Arg)
c.11573C>G (p.Pro3858Arg)
c.5321C>G (p.Pro1774Arg)
c.5354C>G (p.Pro1785Arg)
c.5285C>G (p.Pro1762Arg)
c.11549C>G (p.Pro3850Arg)
c.11594C>G (p.Pro3865Arg)
c.5279C>G (p.Pro1760Arg)
c.5246C>G (p.Pro1749Arg)
c.5309C>G (p.Pro1770Arg)
c.5165C>G (p.Pro1722Arg)
c.5345C>G (p.Pro1782Arg)
c.5237C>G (p.Pro1746Arg)
c.5201C>G (p.Pro1734Arg)
c.5216C>G (p.Pro1739Arg)
c.5126C>G (p.Pro1709Arg)
c.5054C>G (p.Pro1685Arg)
c.5138C>G (p.Pro1713Arg)
c.4967C>G (p.Pro1656Arg)
c.11639C>G (p.Pro3880Arg)
c.11525C>G (p.Pro3842Arg)
c.11495C>G (p.Pro3832Arg)
c.11558C>G (p.Pro3853Arg)
c.11288C>G (p.Pro3763Arg)
c.5048C>G (p.Pro1683Arg)
c.5093C>G (p.Pro1698Arg)
c.5252C>G (p.Pro1751Arg)
c.5324C>G (p.Pro1775Arg)
c.4784C>G (p.Pro1595Arg)
c.5111C>G (p.Pro1704Arg)
c.7922C>G (p.Pro2641Arg)
c.1667C>G (p.Pro556Arg)
c.5132C>G (p.Pro1711Arg)
dbSNP gnomAD v3 gnomAD v4
4g.113369717C>TCA3052299ANK2c.11663C>T (p.Pro3888Leu)
c.5348C>T (p.Pro1783Leu)
c.1949C>T (p.Pro650Leu)
c.2447C>T (p.Pro816Leu)
n.2904C>T
n.2112C>T
n.2856C>T
n.1685C>T
n.3647C>T
n.1628C>T
n.2021C>T
n.8367C>T
n.2993C>T
n.16C>T
n.977C>T
n.3411C>T
n.1626C>T
c.11522C>T (p.Pro3841Leu)
c.11360C>T (p.Pro3787Leu)
c.2654C>T (p.Pro885Leu)
c.977C>T (p.Pro326Leu)
c.5081C>T (p.Pro1694Leu)
c.5168C>T (p.Pro1723Leu)
c.5105C>T (p.Pro1702Leu)
c.5303C>T (p.Pro1768Leu)
c.5204C>T (p.Pro1735Leu)
c.11396C>T (p.Pro3799Leu)
c.5006C>T (p.Pro1669Leu)
c.*760C>T (n.*760C>T)
c.11339C>T (p.Pro3780Leu)
c.4883C>T (p.Pro1628Leu)
c.11336C>T (p.Pro3779Leu)
c.4982C>T (p.Pro1661Leu)
c.11567C>T (p.Pro3856Leu)
c.5117C>T (p.Pro1706Leu)
c.5102C>T (p.Pro1701Leu)
c.11603C>T (p.Pro3868Leu)
c.5090C>T (p.Pro1697Leu)
c.11324C>T (p.Pro3775Leu)
c.5042C>T (p.Pro1681Leu)
c.5240C>T (p.Pro1747Leu)
c.2831C>T (p.Pro944Leu)
c.11423C>T (p.Pro3808Leu)
c.5312C>T (p.Pro1771Leu)
c.11459C>T (p.Pro3820Leu)
c.5069C>T (p.Pro1690Leu)
c.11261C>T (p.Pro3754Leu)
c.5141C>T (p.Pro1714Leu)
c.4685C>T (p.Pro1562Leu)
c.2816C>T (p.Pro939Leu)
c.11237C>T (p.Pro3746Leu)
c.2795C>T (p.Pro932Leu)
c.11468C>T (p.Pro3823Leu)
c.5033C>T (p.Pro1678Leu)
c.4775C>T (p.Pro1592Leu)
c.11297C>T (p.Pro3766Leu)
c.5267C>T (p.Pro1756Leu)
c.2552C>T (p.Pro851Leu)
c.1223C>T (p.Pro408Leu)
c.2271C>T
c.*2883C>T (n.*2883C>T)
c.11555C>T (p.Pro3852Leu)
c.5264C>T (p.Pro1755Leu)
c.11609C>T (p.Pro3870Leu)
c.11573C>T (p.Pro3858Leu)
c.5321C>T (p.Pro1774Leu)
c.5354C>T (p.Pro1785Leu)
c.5285C>T (p.Pro1762Leu)
c.11549C>T (p.Pro3850Leu)
c.11594C>T (p.Pro3865Leu)
c.5279C>T (p.Pro1760Leu)
c.5246C>T (p.Pro1749Leu)
c.5309C>T (p.Pro1770Leu)
c.5165C>T (p.Pro1722Leu)
c.5345C>T (p.Pro1782Leu)
c.5237C>T (p.Pro1746Leu)
c.5201C>T (p.Pro1734Leu)
c.5216C>T (p.Pro1739Leu)
c.5126C>T (p.Pro1709Leu)
c.5054C>T (p.Pro1685Leu)
c.5138C>T (p.Pro1713Leu)
c.4967C>T (p.Pro1656Leu)
c.11639C>T (p.Pro3880Leu)
c.11525C>T (p.Pro3842Leu)
c.11495C>T (p.Pro3832Leu)
c.11558C>T (p.Pro3853Leu)
c.11288C>T (p.Pro3763Leu)
c.5048C>T (p.Pro1683Leu)
c.5093C>T (p.Pro1698Leu)
c.5252C>T (p.Pro1751Leu)
c.5324C>T (p.Pro1775Leu)
c.4784C>T (p.Pro1595Leu)
c.5111C>T (p.Pro1704Leu)
c.7922C>T (p.Pro2641Leu)
c.1667C>T (p.Pro556Leu)
c.5132C>T (p.Pro1711Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.113369718G>ACA3052300ANK2c.11664G>A (p.Pro3888=)
c.5349G>A (p.Pro1783=)
c.1950G>A (p.Pro650=)
c.2448G>A (p.Pro816=)
n.2905G>A
n.2113G>A
n.2857G>A
n.1686G>A
n.3648G>A
n.1629G>A
n.2022G>A
n.8368G>A
n.2994G>A
n.17G>A
n.978G>A
n.3412G>A
n.1627G>A
c.11523G>A (p.Pro3841=)
c.11361G>A (p.Pro3787=)
c.2655G>A (p.Pro885=)
c.978G>A (p.Pro326=)
c.5082G>A (p.Pro1694=)
c.5169G>A (p.Pro1723=)
c.5106G>A (p.Pro1702=)
c.5304G>A (p.Pro1768=)
c.5205G>A (p.Pro1735=)
c.11397G>A (p.Pro3799=)
c.5007G>A (p.Pro1669=)
c.*761G>A (n.*761G>A)
c.11340G>A (p.Pro3780=)
c.4884G>A (p.Pro1628=)
c.11337G>A (p.Pro3779=)
c.4983G>A (p.Pro1661=)
c.11568G>A (p.Pro3856=)
c.5118G>A (p.Pro1706=)
c.5103G>A (p.Pro1701=)
c.11604G>A (p.Pro3868=)
c.5091G>A (p.Pro1697=)
c.11325G>A (p.Pro3775=)
c.5043G>A (p.Pro1681=)
c.5241G>A (p.Pro1747=)
c.2832G>A (p.Pro944=)
c.11424G>A (p.Pro3808=)
c.5313G>A (p.Pro1771=)
c.11460G>A (p.Pro3820=)
c.5070G>A (p.Pro1690=)
c.11262G>A (p.Pro3754=)
c.5142G>A (p.Pro1714=)
c.4686G>A (p.Pro1562=)
c.2817G>A (p.Pro939=)
c.11238G>A (p.Pro3746=)
c.2796G>A (p.Pro932=)
c.11469G>A (p.Pro3823=)
c.5034G>A (p.Pro1678=)
c.4776G>A (p.Pro1592=)
c.11298G>A (p.Pro3766=)
c.5268G>A (p.Pro1756=)
c.2553G>A (p.Pro851=)
c.1224G>A (p.Pro408=)
c.2272G>A
c.*2884G>A (n.*2884G>A)
c.11556G>A (p.Pro3852=)
c.5265G>A (p.Pro1755=)
c.11610G>A (p.Pro3870=)
c.11574G>A (p.Pro3858=)
c.5322G>A (p.Pro1774=)
c.5355G>A (p.Pro1785=)
c.5286G>A (p.Pro1762=)
c.11550G>A (p.Pro3850=)
c.11595G>A (p.Pro3865=)
c.5280G>A (p.Pro1760=)
c.5247G>A (p.Pro1749=)
c.5310G>A (p.Pro1770=)
c.5166G>A (p.Pro1722=)
c.5346G>A (p.Pro1782=)
c.5238G>A (p.Pro1746=)
c.5202G>A (p.Pro1734=)
c.5217G>A (p.Pro1739=)
c.5127G>A (p.Pro1709=)
c.5055G>A (p.Pro1685=)
c.5139G>A (p.Pro1713=)
c.4968G>A (p.Pro1656=)
c.11640G>A (p.Pro3880=)
c.11526G>A (p.Pro3842=)
c.11496G>A (p.Pro3832=)
c.11559G>A (p.Pro3853=)
c.11289G>A (p.Pro3763=)
c.5049G>A (p.Pro1683=)
c.5094G>A (p.Pro1698=)
c.5253G>A (p.Pro1751=)
c.5325G>A (p.Pro1775=)
c.4785G>A (p.Pro1595=)
c.5112G>A (p.Pro1704=)
c.7923G>A (p.Pro2641=)
c.1668G>A (p.Pro556=)
c.5133G>A (p.Pro1711=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.113369718G>CCA440835954ANK2c.11664G>C (p.Pro3888=)
c.5349G>C (p.Pro1783=)
c.1950G>C (p.Pro650=)
c.2448G>C (p.Pro816=)
n.2905G>C
n.2113G>C
n.2857G>C
n.1686G>C
n.3648G>C
n.1629G>C
n.2022G>C
n.8368G>C
n.2994G>C
n.17G>C
n.978G>C
n.3412G>C
n.1627G>C
c.11523G>C (p.Pro3841=)
c.11361G>C (p.Pro3787=)
c.2655G>C (p.Pro885=)
c.978G>C (p.Pro326=)
c.5082G>C (p.Pro1694=)
c.5169G>C (p.Pro1723=)
c.5106G>C (p.Pro1702=)
c.5304G>C (p.Pro1768=)
c.5205G>C (p.Pro1735=)
c.11397G>C (p.Pro3799=)
c.5007G>C (p.Pro1669=)
c.*761G>C (n.*761G>C)
c.11340G>C (p.Pro3780=)
c.4884G>C (p.Pro1628=)
c.11337G>C (p.Pro3779=)
c.4983G>C (p.Pro1661=)
c.11568G>C (p.Pro3856=)
c.5118G>C (p.Pro1706=)
c.5103G>C (p.Pro1701=)
c.11604G>C (p.Pro3868=)
c.5091G>C (p.Pro1697=)
c.11325G>C (p.Pro3775=)
c.5043G>C (p.Pro1681=)
c.5241G>C (p.Pro1747=)
c.2832G>C (p.Pro944=)
c.11424G>C (p.Pro3808=)
c.5313G>C (p.Pro1771=)
c.11460G>C (p.Pro3820=)
c.5070G>C (p.Pro1690=)
c.11262G>C (p.Pro3754=)
c.5142G>C (p.Pro1714=)
c.4686G>C (p.Pro1562=)
c.2817G>C (p.Pro939=)
c.11238G>C (p.Pro3746=)
c.2796G>C (p.Pro932=)
c.11469G>C (p.Pro3823=)
c.5034G>C (p.Pro1678=)
c.4776G>C (p.Pro1592=)
c.11298G>C (p.Pro3766=)
c.5268G>C (p.Pro1756=)
c.2553G>C (p.Pro851=)
c.1224G>C (p.Pro408=)
c.2272G>C
c.*2884G>C (n.*2884G>C)
c.11556G>C (p.Pro3852=)
c.5265G>C (p.Pro1755=)
c.11610G>C (p.Pro3870=)
c.11574G>C (p.Pro3858=)
c.5322G>C (p.Pro1774=)
c.5355G>C (p.Pro1785=)
c.5286G>C (p.Pro1762=)
c.11550G>C (p.Pro3850=)
c.11595G>C (p.Pro3865=)
c.5280G>C (p.Pro1760=)
c.5247G>C (p.Pro1749=)
c.5310G>C (p.Pro1770=)
c.5166G>C (p.Pro1722=)
c.5346G>C (p.Pro1782=)
c.5238G>C (p.Pro1746=)
c.5202G>C (p.Pro1734=)
c.5217G>C (p.Pro1739=)
c.5127G>C (p.Pro1709=)
c.5055G>C (p.Pro1685=)
c.5139G>C (p.Pro1713=)
c.4968G>C (p.Pro1656=)
c.11640G>C (p.Pro3880=)
c.11526G>C (p.Pro3842=)
c.11496G>C (p.Pro3832=)
c.11559G>C (p.Pro3853=)
c.11289G>C (p.Pro3763=)
c.5049G>C (p.Pro1683=)
c.5094G>C (p.Pro1698=)
c.5253G>C (p.Pro1751=)
c.5325G>C (p.Pro1775=)
c.4785G>C (p.Pro1595=)
c.5112G>C (p.Pro1704=)
c.7923G>C (p.Pro2641=)
c.1668G>C (p.Pro556=)
c.5133G>C (p.Pro1711=)
dbSNP
4g.113369718G>TCA440835958ANK2c.11664G>T (p.Pro3888=)
c.5349G>T (p.Pro1783=)
c.1950G>T (p.Pro650=)
c.2448G>T (p.Pro816=)
n.2905G>T
n.2113G>T
n.2857G>T
n.1686G>T
n.3648G>T
n.1629G>T
n.2022G>T
n.8368G>T
n.2994G>T
n.17G>T
n.978G>T
n.3412G>T
n.1627G>T
c.11523G>T (p.Pro3841=)
c.11361G>T (p.Pro3787=)
c.2655G>T (p.Pro885=)
c.978G>T (p.Pro326=)
c.5082G>T (p.Pro1694=)
c.5169G>T (p.Pro1723=)
c.5106G>T (p.Pro1702=)
c.5304G>T (p.Pro1768=)
c.5205G>T (p.Pro1735=)
c.11397G>T (p.Pro3799=)
c.5007G>T (p.Pro1669=)
c.*761G>T (n.*761G>T)
c.11340G>T (p.Pro3780=)
c.4884G>T (p.Pro1628=)
c.11337G>T (p.Pro3779=)
c.4983G>T (p.Pro1661=)
c.11568G>T (p.Pro3856=)
c.5118G>T (p.Pro1706=)
c.5103G>T (p.Pro1701=)
c.11604G>T (p.Pro3868=)
c.5091G>T (p.Pro1697=)
c.11325G>T (p.Pro3775=)
c.5043G>T (p.Pro1681=)
c.5241G>T (p.Pro1747=)
c.2832G>T (p.Pro944=)
c.11424G>T (p.Pro3808=)
c.5313G>T (p.Pro1771=)
c.11460G>T (p.Pro3820=)
c.5070G>T (p.Pro1690=)
c.11262G>T (p.Pro3754=)
c.5142G>T (p.Pro1714=)
c.4686G>T (p.Pro1562=)
c.2817G>T (p.Pro939=)
c.11238G>T (p.Pro3746=)
c.2796G>T (p.Pro932=)
c.11469G>T (p.Pro3823=)
c.5034G>T (p.Pro1678=)
c.4776G>T (p.Pro1592=)
c.11298G>T (p.Pro3766=)
c.5268G>T (p.Pro1756=)
c.2553G>T (p.Pro851=)
c.1224G>T (p.Pro408=)
c.2272G>T
c.*2884G>T (n.*2884G>T)
c.11556G>T (p.Pro3852=)
c.5265G>T (p.Pro1755=)
c.11610G>T (p.Pro3870=)
c.11574G>T (p.Pro3858=)
c.5322G>T (p.Pro1774=)
c.5355G>T (p.Pro1785=)
c.5286G>T (p.Pro1762=)
c.11550G>T (p.Pro3850=)
c.11595G>T (p.Pro3865=)
c.5280G>T (p.Pro1760=)
c.5247G>T (p.Pro1749=)
c.5310G>T (p.Pro1770=)
c.5166G>T (p.Pro1722=)
c.5346G>T (p.Pro1782=)
c.5238G>T (p.Pro1746=)
c.5202G>T (p.Pro1734=)
c.5217G>T (p.Pro1739=)
c.5127G>T (p.Pro1709=)
c.5055G>T (p.Pro1685=)
c.5139G>T (p.Pro1713=)
c.4968G>T (p.Pro1656=)
c.11640G>T (p.Pro3880=)
c.11526G>T (p.Pro3842=)
c.11496G>T (p.Pro3832=)
c.11559G>T (p.Pro3853=)
c.11289G>T (p.Pro3763=)
c.5049G>T (p.Pro1683=)
c.5094G>T (p.Pro1698=)
c.5253G>T (p.Pro1751=)
c.5325G>T (p.Pro1775=)
c.4785G>T (p.Pro1595=)
c.5112G>T (p.Pro1704=)
c.7923G>T (p.Pro2641=)
c.1668G>T (p.Pro556=)
c.5133G>T (p.Pro1711=)
dbSNP gnomAD v4
4g.113369719C>ACA440835963ANK2c.11665C>A (p.Arg3889=)
c.5350C>A (p.Arg1784=)
c.1951C>A (p.Arg651=)
c.2449C>A (p.Arg817=)
n.2906C>A
n.2114C>A
n.2858C>A
n.1687C>A
n.3649C>A
n.1630C>A
n.2023C>A
n.8369C>A
n.2995C>A
n.18C>A
n.979C>A
n.3413C>A
n.1628C>A
c.11524C>A (p.Arg3842=)
c.11362C>A (p.Arg3788=)
c.2656C>A (p.Arg886=)
c.979C>A (p.Arg327=)
c.5083C>A (p.Arg1695=)
c.5170C>A (p.Arg1724=)
c.5107C>A (p.Arg1703=)
c.5305C>A (p.Arg1769=)
c.5206C>A (p.Arg1736=)
c.11398C>A (p.Arg3800=)
c.5008C>A (p.Arg1670=)
c.*762C>A (n.*762C>A)
c.11341C>A (p.Arg3781=)
c.4885C>A (p.Arg1629=)
c.11338C>A (p.Arg3780=)
c.4984C>A (p.Arg1662=)
c.11569C>A (p.Arg3857=)
c.5119C>A (p.Arg1707=)
c.5104C>A (p.Arg1702=)
c.11605C>A (p.Arg3869=)
c.5092C>A (p.Arg1698=)
c.11326C>A (p.Arg3776=)
c.5044C>A (p.Arg1682=)
c.5242C>A (p.Arg1748=)
c.2833C>A (p.Arg945=)
c.11425C>A (p.Arg3809=)
c.5314C>A (p.Arg1772=)
c.11461C>A (p.Arg3821=)
c.5071C>A (p.Arg1691=)
c.11263C>A (p.Arg3755=)
c.5143C>A (p.Arg1715=)
c.4687C>A (p.Arg1563=)
c.2818C>A (p.Arg940=)
c.11239C>A (p.Arg3747=)
c.2797C>A (p.Arg933=)
c.11470C>A (p.Arg3824=)
c.5035C>A (p.Arg1679=)
c.4777C>A (p.Arg1593=)
c.11299C>A (p.Arg3767=)
c.5269C>A (p.Arg1757=)
c.2554C>A (p.Arg852=)
c.1225C>A (p.Arg409=)
c.2273C>A
c.*2885C>A (n.*2885C>A)
c.11557C>A (p.Arg3853=)
c.5266C>A (p.Arg1756=)
c.11611C>A (p.Arg3871=)
c.11575C>A (p.Arg3859=)
c.5323C>A (p.Arg1775=)
c.5356C>A (p.Arg1786=)
c.5287C>A (p.Arg1763=)
c.11551C>A (p.Arg3851=)
c.11596C>A (p.Arg3866=)
c.5281C>A (p.Arg1761=)
c.5248C>A (p.Arg1750=)
c.5311C>A (p.Arg1771=)
c.5167C>A (p.Arg1723=)
c.5347C>A (p.Arg1783=)
c.5239C>A (p.Arg1747=)
c.5203C>A (p.Arg1735=)
c.5218C>A (p.Arg1740=)
c.5128C>A (p.Arg1710=)
c.5056C>A (p.Arg1686=)
c.5140C>A (p.Arg1714=)
c.4969C>A (p.Arg1657=)
c.11641C>A (p.Arg3881=)
c.11527C>A (p.Arg3843=)
c.11497C>A (p.Arg3833=)
c.11560C>A (p.Arg3854=)
c.11290C>A (p.Arg3764=)
c.5050C>A (p.Arg1684=)
c.5095C>A (p.Arg1699=)
c.5254C>A (p.Arg1752=)
c.5326C>A (p.Arg1776=)
c.4786C>A (p.Arg1596=)
c.5113C>A (p.Arg1705=)
c.7924C>A (p.Arg2642=)
c.1669C>A (p.Arg557=)
c.5134C>A (p.Arg1712=)
dbSNP gnomAD v4
4g.113369719C>GCA357942902ANK2c.11665C>G (p.Arg3889Gly)
c.5350C>G (p.Arg1784Gly)
c.1951C>G (p.Arg651Gly)
c.2449C>G (p.Arg817Gly)
n.2906C>G
n.2114C>G
n.2858C>G
n.1687C>G
n.3649C>G
n.1630C>G
n.2023C>G
n.8369C>G
n.2995C>G
n.18C>G
n.979C>G
n.3413C>G
n.1628C>G
c.11524C>G (p.Arg3842Gly)
c.11362C>G (p.Arg3788Gly)
c.2656C>G (p.Arg886Gly)
c.979C>G (p.Arg327Gly)
c.5083C>G (p.Arg1695Gly)
c.5170C>G (p.Arg1724Gly)
c.5107C>G (p.Arg1703Gly)
c.5305C>G (p.Arg1769Gly)
c.5206C>G (p.Arg1736Gly)
c.11398C>G (p.Arg3800Gly)
c.5008C>G (p.Arg1670Gly)
c.*762C>G (n.*762C>G)
c.11341C>G (p.Arg3781Gly)
c.4885C>G (p.Arg1629Gly)
c.11338C>G (p.Arg3780Gly)
c.4984C>G (p.Arg1662Gly)
c.11569C>G (p.Arg3857Gly)
c.5119C>G (p.Arg1707Gly)
c.5104C>G (p.Arg1702Gly)
c.11605C>G (p.Arg3869Gly)
c.5092C>G (p.Arg1698Gly)
c.11326C>G (p.Arg3776Gly)
c.5044C>G (p.Arg1682Gly)
c.5242C>G (p.Arg1748Gly)
c.2833C>G (p.Arg945Gly)
c.11425C>G (p.Arg3809Gly)
c.5314C>G (p.Arg1772Gly)
c.11461C>G (p.Arg3821Gly)
c.5071C>G (p.Arg1691Gly)
c.11263C>G (p.Arg3755Gly)
c.5143C>G (p.Arg1715Gly)
c.4687C>G (p.Arg1563Gly)
c.2818C>G (p.Arg940Gly)
c.11239C>G (p.Arg3747Gly)
c.2797C>G (p.Arg933Gly)
c.11470C>G (p.Arg3824Gly)
c.5035C>G (p.Arg1679Gly)
c.4777C>G (p.Arg1593Gly)
c.11299C>G (p.Arg3767Gly)
c.5269C>G (p.Arg1757Gly)
c.2554C>G (p.Arg852Gly)
c.1225C>G (p.Arg409Gly)
c.2273C>G
c.*2885C>G (n.*2885C>G)
c.11557C>G (p.Arg3853Gly)
c.5266C>G (p.Arg1756Gly)
c.11611C>G (p.Arg3871Gly)
c.11575C>G (p.Arg3859Gly)
c.5323C>G (p.Arg1775Gly)
c.5356C>G (p.Arg1786Gly)
c.5287C>G (p.Arg1763Gly)
c.11551C>G (p.Arg3851Gly)
c.11596C>G (p.Arg3866Gly)
c.5281C>G (p.Arg1761Gly)
c.5248C>G (p.Arg1750Gly)
c.5311C>G (p.Arg1771Gly)
c.5167C>G (p.Arg1723Gly)
c.5347C>G (p.Arg1783Gly)
c.5239C>G (p.Arg1747Gly)
c.5203C>G (p.Arg1735Gly)
c.5218C>G (p.Arg1740Gly)
c.5128C>G (p.Arg1710Gly)
c.5056C>G (p.Arg1686Gly)
c.5140C>G (p.Arg1714Gly)
c.4969C>G (p.Arg1657Gly)
c.11641C>G (p.Arg3881Gly)
c.11527C>G (p.Arg3843Gly)
c.11497C>G (p.Arg3833Gly)
c.11560C>G (p.Arg3854Gly)
c.11290C>G (p.Arg3764Gly)
c.5050C>G (p.Arg1684Gly)
c.5095C>G (p.Arg1699Gly)
c.5254C>G (p.Arg1752Gly)
c.5326C>G (p.Arg1776Gly)
c.4786C>G (p.Arg1596Gly)
c.5113C>G (p.Arg1705Gly)
c.7924C>G (p.Arg2642Gly)
c.1669C>G (p.Arg557Gly)
c.5134C>G (p.Arg1712Gly)
4g.113369719C>TCA300739ANK2c.11665C>T (p.Arg3889Trp)
c.5350C>T (p.Arg1784Trp)
c.1951C>T (p.Arg651Trp)
c.2449C>T (p.Arg817Trp)
n.2906C>T
n.2114C>T
n.2858C>T
n.1687C>T
n.3649C>T
n.1630C>T
n.2023C>T
n.8369C>T
n.2995C>T
n.18C>T
n.979C>T
n.3413C>T
n.1628C>T
c.11524C>T (p.Arg3842Trp)
c.11362C>T (p.Arg3788Trp)
c.2656C>T (p.Arg886Trp)
c.979C>T (p.Arg327Trp)
c.5083C>T (p.Arg1695Trp)
c.5170C>T (p.Arg1724Trp)
c.5107C>T (p.Arg1703Trp)
c.5305C>T (p.Arg1769Trp)
c.5206C>T (p.Arg1736Trp)
c.11398C>T (p.Arg3800Trp)
c.5008C>T (p.Arg1670Trp)
c.*762C>T (n.*762C>T)
c.11341C>T (p.Arg3781Trp)
c.4885C>T (p.Arg1629Trp)
c.11338C>T (p.Arg3780Trp)
c.4984C>T (p.Arg1662Trp)
c.11569C>T (p.Arg3857Trp)
c.5119C>T (p.Arg1707Trp)
c.5104C>T (p.Arg1702Trp)
c.11605C>T (p.Arg3869Trp)
c.5092C>T (p.Arg1698Trp)
c.11326C>T (p.Arg3776Trp)
c.5044C>T (p.Arg1682Trp)
c.5242C>T (p.Arg1748Trp)
c.2833C>T (p.Arg945Trp)
c.11425C>T (p.Arg3809Trp)
c.5314C>T (p.Arg1772Trp)
c.11461C>T (p.Arg3821Trp)
c.5071C>T (p.Arg1691Trp)
c.11263C>T (p.Arg3755Trp)
c.5143C>T (p.Arg1715Trp)
c.4687C>T (p.Arg1563Trp)
c.2818C>T (p.Arg940Trp)
c.11239C>T (p.Arg3747Trp)
c.2797C>T (p.Arg933Trp)
c.11470C>T (p.Arg3824Trp)
c.5035C>T (p.Arg1679Trp)
c.4777C>T (p.Arg1593Trp)
c.11299C>T (p.Arg3767Trp)
c.5269C>T (p.Arg1757Trp)
c.2554C>T (p.Arg852Trp)
c.1225C>T (p.Arg409Trp)
c.2273C>T
c.*2885C>T (n.*2885C>T)
c.11557C>T (p.Arg3853Trp)
c.5266C>T (p.Arg1756Trp)
c.11611C>T (p.Arg3871Trp)
c.11575C>T (p.Arg3859Trp)
c.5323C>T (p.Arg1775Trp)
c.5356C>T (p.Arg1786Trp)
c.5287C>T (p.Arg1763Trp)
c.11551C>T (p.Arg3851Trp)
c.11596C>T (p.Arg3866Trp)
c.5281C>T (p.Arg1761Trp)
c.5248C>T (p.Arg1750Trp)
c.5311C>T (p.Arg1771Trp)
c.5167C>T (p.Arg1723Trp)
c.5347C>T (p.Arg1783Trp)
c.5239C>T (p.Arg1747Trp)
c.5203C>T (p.Arg1735Trp)
c.5218C>T (p.Arg1740Trp)
c.5128C>T (p.Arg1710Trp)
c.5056C>T (p.Arg1686Trp)
c.5140C>T (p.Arg1714Trp)
c.4969C>T (p.Arg1657Trp)
c.11641C>T (p.Arg3881Trp)
c.11527C>T (p.Arg3843Trp)
c.11497C>T (p.Arg3833Trp)
c.11560C>T (p.Arg3854Trp)
c.11290C>T (p.Arg3764Trp)
c.5050C>T (p.Arg1684Trp)
c.5095C>T (p.Arg1699Trp)
c.5254C>T (p.Arg1752Trp)
c.5326C>T (p.Arg1776Trp)
c.4786C>T (p.Arg1596Trp)
c.5113C>T (p.Arg1705Trp)
c.7924C>T (p.Arg2642Trp)
c.1669C>T (p.Arg557Trp)
c.5134C>T (p.Arg1712Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.113369720G>ACA3052301ANK2c.11666G>A (p.Arg3889Gln)
c.5351G>A (p.Arg1784Gln)
c.1952G>A (p.Arg651Gln)
c.2450G>A (p.Arg817Gln)
n.2907G>A
n.2115G>A
n.2859G>A
n.1688G>A
n.3650G>A
n.1631G>A
n.2024G>A
n.8370G>A
n.2996G>A
n.19G>A
n.980G>A
n.3414G>A
n.1629G>A
c.11525G>A (p.Arg3842Gln)
c.11363G>A (p.Arg3788Gln)
c.2657G>A (p.Arg886Gln)
c.980G>A (p.Arg327Gln)
c.5084G>A (p.Arg1695Gln)
c.5171G>A (p.Arg1724Gln)
c.5108G>A (p.Arg1703Gln)
c.5306G>A (p.Arg1769Gln)
c.5207G>A (p.Arg1736Gln)
c.11399G>A (p.Arg3800Gln)
c.5009G>A (p.Arg1670Gln)
c.*763G>A (n.*763G>A)
c.11342G>A (p.Arg3781Gln)
c.4886G>A (p.Arg1629Gln)
c.11339G>A (p.Arg3780Gln)
c.4985G>A (p.Arg1662Gln)
c.11570G>A (p.Arg3857Gln)
c.5120G>A (p.Arg1707Gln)
c.5105G>A (p.Arg1702Gln)
c.11606G>A (p.Arg3869Gln)
c.5093G>A (p.Arg1698Gln)
c.11327G>A (p.Arg3776Gln)
c.5045G>A (p.Arg1682Gln)
c.5243G>A (p.Arg1748Gln)
c.2834G>A (p.Arg945Gln)
c.11426G>A (p.Arg3809Gln)
c.5315G>A (p.Arg1772Gln)
c.11462G>A (p.Arg3821Gln)
c.5072G>A (p.Arg1691Gln)
c.11264G>A (p.Arg3755Gln)
c.5144G>A (p.Arg1715Gln)
c.4688G>A (p.Arg1563Gln)
c.2819G>A (p.Arg940Gln)
c.11240G>A (p.Arg3747Gln)
c.2798G>A (p.Arg933Gln)
c.11471G>A (p.Arg3824Gln)
c.5036G>A (p.Arg1679Gln)
c.4778G>A (p.Arg1593Gln)
c.11300G>A (p.Arg3767Gln)
c.5270G>A (p.Arg1757Gln)
c.2555G>A (p.Arg852Gln)
c.1226G>A (p.Arg409Gln)
c.2274G>A
c.*2886G>A (n.*2886G>A)
c.11558G>A (p.Arg3853Gln)
c.5267G>A (p.Arg1756Gln)
c.11612G>A (p.Arg3871Gln)
c.11576G>A (p.Arg3859Gln)
c.5324G>A (p.Arg1775Gln)
c.5357G>A (p.Arg1786Gln)
c.5288G>A (p.Arg1763Gln)
c.11552G>A (p.Arg3851Gln)
c.11597G>A (p.Arg3866Gln)
c.5282G>A (p.Arg1761Gln)
c.5249G>A (p.Arg1750Gln)
c.5312G>A (p.Arg1771Gln)
c.5168G>A (p.Arg1723Gln)
c.5348G>A (p.Arg1783Gln)
c.5240G>A (p.Arg1747Gln)
c.5204G>A (p.Arg1735Gln)
c.5219G>A (p.Arg1740Gln)
c.5129G>A (p.Arg1710Gln)
c.5057G>A (p.Arg1686Gln)
c.5141G>A (p.Arg1714Gln)
c.4970G>A (p.Arg1657Gln)
c.11642G>A (p.Arg3881Gln)
c.11528G>A (p.Arg3843Gln)
c.11498G>A (p.Arg3833Gln)
c.11561G>A (p.Arg3854Gln)
c.11291G>A (p.Arg3764Gln)
c.5051G>A (p.Arg1684Gln)
c.5096G>A (p.Arg1699Gln)
c.5255G>A (p.Arg1752Gln)
c.5327G>A (p.Arg1776Gln)
c.4787G>A (p.Arg1596Gln)
c.5114G>A (p.Arg1705Gln)
c.7925G>A (p.Arg2642Gln)
c.1670G>A (p.Arg557Gln)
c.5135G>A (p.Arg1712Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.113369720G>CCA357942904ANK2c.11666G>C (p.Arg3889Pro)
c.5351G>C (p.Arg1784Pro)
c.1952G>C (p.Arg651Pro)
c.2450G>C (p.Arg817Pro)
n.2907G>C
n.2115G>C
n.2859G>C
n.1688G>C
n.3650G>C
n.1631G>C
n.2024G>C
n.8370G>C
n.2996G>C
n.19G>C
n.980G>C
n.3414G>C
n.1629G>C
c.11525G>C (p.Arg3842Pro)
c.11363G>C (p.Arg3788Pro)
c.2657G>C (p.Arg886Pro)
c.980G>C (p.Arg327Pro)
c.5084G>C (p.Arg1695Pro)
c.5171G>C (p.Arg1724Pro)
c.5108G>C (p.Arg1703Pro)
c.5306G>C (p.Arg1769Pro)
c.5207G>C (p.Arg1736Pro)
c.11399G>C (p.Arg3800Pro)
c.5009G>C (p.Arg1670Pro)
c.*763G>C (n.*763G>C)
c.11342G>C (p.Arg3781Pro)
c.4886G>C (p.Arg1629Pro)
c.11339G>C (p.Arg3780Pro)
c.4985G>C (p.Arg1662Pro)
c.11570G>C (p.Arg3857Pro)
c.5120G>C (p.Arg1707Pro)
c.5105G>C (p.Arg1702Pro)
c.11606G>C (p.Arg3869Pro)
c.5093G>C (p.Arg1698Pro)
c.11327G>C (p.Arg3776Pro)
c.5045G>C (p.Arg1682Pro)
c.5243G>C (p.Arg1748Pro)
c.2834G>C (p.Arg945Pro)
c.11426G>C (p.Arg3809Pro)
c.5315G>C (p.Arg1772Pro)
c.11462G>C (p.Arg3821Pro)
c.5072G>C (p.Arg1691Pro)
c.11264G>C (p.Arg3755Pro)
c.5144G>C (p.Arg1715Pro)
c.4688G>C (p.Arg1563Pro)
c.2819G>C (p.Arg940Pro)
c.11240G>C (p.Arg3747Pro)
c.2798G>C (p.Arg933Pro)
c.11471G>C (p.Arg3824Pro)
c.5036G>C (p.Arg1679Pro)
c.4778G>C (p.Arg1593Pro)
c.11300G>C (p.Arg3767Pro)
c.5270G>C (p.Arg1757Pro)
c.2555G>C (p.Arg852Pro)
c.1226G>C (p.Arg409Pro)
c.2274G>C
c.*2886G>C (n.*2886G>C)
c.11558G>C (p.Arg3853Pro)
c.5267G>C (p.Arg1756Pro)
c.11612G>C (p.Arg3871Pro)
c.11576G>C (p.Arg3859Pro)
c.5324G>C (p.Arg1775Pro)
c.5357G>C (p.Arg1786Pro)
c.5288G>C (p.Arg1763Pro)
c.11552G>C (p.Arg3851Pro)
c.11597G>C (p.Arg3866Pro)
c.5282G>C (p.Arg1761Pro)
c.5249G>C (p.Arg1750Pro)
c.5312G>C (p.Arg1771Pro)
c.5168G>C (p.Arg1723Pro)
c.5348G>C (p.Arg1783Pro)
c.5240G>C (p.Arg1747Pro)
c.5204G>C (p.Arg1735Pro)
c.5219G>C (p.Arg1740Pro)
c.5129G>C (p.Arg1710Pro)
c.5057G>C (p.Arg1686Pro)
c.5141G>C (p.Arg1714Pro)
c.4970G>C (p.Arg1657Pro)
c.11642G>C (p.Arg3881Pro)
c.11528G>C (p.Arg3843Pro)
c.11498G>C (p.Arg3833Pro)
c.11561G>C (p.Arg3854Pro)
c.11291G>C (p.Arg3764Pro)
c.5051G>C (p.Arg1684Pro)
c.5096G>C (p.Arg1699Pro)
c.5255G>C (p.Arg1752Pro)
c.5327G>C (p.Arg1776Pro)
c.4787G>C (p.Arg1596Pro)
c.5114G>C (p.Arg1705Pro)
c.7925G>C (p.Arg2642Pro)
c.1670G>C (p.Arg557Pro)
c.5135G>C (p.Arg1712Pro)
4g.113369720G>TCA357942903ANK2c.11666G>T (p.Arg3889Leu)
c.5351G>T (p.Arg1784Leu)
c.1952G>T (p.Arg651Leu)
c.2450G>T (p.Arg817Leu)
n.2907G>T
n.2115G>T
n.2859G>T
n.1688G>T
n.3650G>T
n.1631G>T
n.2024G>T
n.8370G>T
n.2996G>T
n.19G>T
n.980G>T
n.3414G>T
n.1629G>T
c.11525G>T (p.Arg3842Leu)
c.11363G>T (p.Arg3788Leu)
c.2657G>T (p.Arg886Leu)
c.980G>T (p.Arg327Leu)
c.5084G>T (p.Arg1695Leu)
c.5171G>T (p.Arg1724Leu)
c.5108G>T (p.Arg1703Leu)
c.5306G>T (p.Arg1769Leu)
c.5207G>T (p.Arg1736Leu)
c.11399G>T (p.Arg3800Leu)
c.5009G>T (p.Arg1670Leu)
c.*763G>T (n.*763G>T)
c.11342G>T (p.Arg3781Leu)
c.4886G>T (p.Arg1629Leu)
c.11339G>T (p.Arg3780Leu)
c.4985G>T (p.Arg1662Leu)
c.11570G>T (p.Arg3857Leu)
c.5120G>T (p.Arg1707Leu)
c.5105G>T (p.Arg1702Leu)
c.11606G>T (p.Arg3869Leu)
c.5093G>T (p.Arg1698Leu)
c.11327G>T (p.Arg3776Leu)
c.5045G>T (p.Arg1682Leu)
c.5243G>T (p.Arg1748Leu)
c.2834G>T (p.Arg945Leu)
c.11426G>T (p.Arg3809Leu)
c.5315G>T (p.Arg1772Leu)
c.11462G>T (p.Arg3821Leu)
c.5072G>T (p.Arg1691Leu)
c.11264G>T (p.Arg3755Leu)
c.5144G>T (p.Arg1715Leu)
c.4688G>T (p.Arg1563Leu)
c.2819G>T (p.Arg940Leu)
c.11240G>T (p.Arg3747Leu)
c.2798G>T (p.Arg933Leu)
c.11471G>T (p.Arg3824Leu)
c.5036G>T (p.Arg1679Leu)
c.4778G>T (p.Arg1593Leu)
c.11300G>T (p.Arg3767Leu)
c.5270G>T (p.Arg1757Leu)
c.2555G>T (p.Arg852Leu)
c.1226G>T (p.Arg409Leu)
c.2274G>T
c.*2886G>T (n.*2886G>T)
c.11558G>T (p.Arg3853Leu)
c.5267G>T (p.Arg1756Leu)
c.11612G>T (p.Arg3871Leu)
c.11576G>T (p.Arg3859Leu)
c.5324G>T (p.Arg1775Leu)
c.5357G>T (p.Arg1786Leu)
c.5288G>T (p.Arg1763Leu)
c.11552G>T (p.Arg3851Leu)
c.11597G>T (p.Arg3866Leu)
c.5282G>T (p.Arg1761Leu)
c.5249G>T (p.Arg1750Leu)
c.5312G>T (p.Arg1771Leu)
c.5168G>T (p.Arg1723Leu)
c.5348G>T (p.Arg1783Leu)
c.5240G>T (p.Arg1747Leu)
c.5204G>T (p.Arg1735Leu)
c.5219G>T (p.Arg1740Leu)
c.5129G>T (p.Arg1710Leu)
c.5057G>T (p.Arg1686Leu)
c.5141G>T (p.Arg1714Leu)
c.4970G>T (p.Arg1657Leu)
c.11642G>T (p.Arg3881Leu)
c.11528G>T (p.Arg3843Leu)
c.11498G>T (p.Arg3833Leu)
c.11561G>T (p.Arg3854Leu)
c.11291G>T (p.Arg3764Leu)
c.5051G>T (p.Arg1684Leu)
c.5096G>T (p.Arg1699Leu)
c.5255G>T (p.Arg1752Leu)
c.5327G>T (p.Arg1776Leu)
c.4787G>T (p.Arg1596Leu)
c.5114G>T (p.Arg1705Leu)
c.7925G>T (p.Arg2642Leu)
c.1670G>T (p.Arg557Leu)
c.5135G>T (p.Arg1712Leu)
dbSNP
4g.113369721G>ACA440836526ANK2c.11667G>A (p.Arg3889=)
c.5352G>A (p.Arg1784=)
c.1953G>A (p.Arg651=)
c.2451G>A (p.Arg817=)
n.2908G>A
n.2116G>A
n.2860G>A
n.1689G>A
n.3651G>A
n.1632G>A
n.2025G>A
n.8371G>A
n.2997G>A
n.20G>A
n.981G>A
n.3415G>A
n.1630G>A
c.11526G>A (p.Arg3842=)
c.11364G>A (p.Arg3788=)
c.2658G>A (p.Arg886=)
c.981G>A (p.Arg327=)
c.5085G>A (p.Arg1695=)
c.5172G>A (p.Arg1724=)
c.5109G>A (p.Arg1703=)
c.5307G>A (p.Arg1769=)
c.5208G>A (p.Arg1736=)
c.11400G>A (p.Arg3800=)
c.5010G>A (p.Arg1670=)
c.*764G>A (n.*764G>A)
c.11343G>A (p.Arg3781=)
c.4887G>A (p.Arg1629=)
c.11340G>A (p.Arg3780=)
c.4986G>A (p.Arg1662=)
c.11571G>A (p.Arg3857=)
c.5121G>A (p.Arg1707=)
c.5106G>A (p.Arg1702=)
c.11607G>A (p.Arg3869=)
c.5094G>A (p.Arg1698=)
c.11328G>A (p.Arg3776=)
c.5046G>A (p.Arg1682=)
c.5244G>A (p.Arg1748=)
c.2835G>A (p.Arg945=)
c.11427G>A (p.Arg3809=)
c.5316G>A (p.Arg1772=)
c.11463G>A (p.Arg3821=)
c.5073G>A (p.Arg1691=)
c.11265G>A (p.Arg3755=)
c.5145G>A (p.Arg1715=)
c.4689G>A (p.Arg1563=)
c.2820G>A (p.Arg940=)
c.11241G>A (p.Arg3747=)
c.2799G>A (p.Arg933=)
c.11472G>A (p.Arg3824=)
c.5037G>A (p.Arg1679=)
c.4779G>A (p.Arg1593=)
c.11301G>A (p.Arg3767=)
c.5271G>A (p.Arg1757=)
c.2556G>A (p.Arg852=)
c.1227G>A (p.Arg409=)
c.2275G>A
c.*2887G>A (n.*2887G>A)
c.11559G>A (p.Arg3853=)
c.5268G>A (p.Arg1756=)
c.11613G>A (p.Arg3871=)
c.11577G>A (p.Arg3859=)
c.5325G>A (p.Arg1775=)
c.5358G>A (p.Arg1786=)
c.5289G>A (p.Arg1763=)
c.11553G>A (p.Arg3851=)
c.11598G>A (p.Arg3866=)
c.5283G>A (p.Arg1761=)
c.5250G>A (p.Arg1750=)
c.5313G>A (p.Arg1771=)
c.5169G>A (p.Arg1723=)
c.5349G>A (p.Arg1783=)
c.5241G>A (p.Arg1747=)
c.5205G>A (p.Arg1735=)
c.5220G>A (p.Arg1740=)
c.5130G>A (p.Arg1710=)
c.5058G>A (p.Arg1686=)
c.5142G>A (p.Arg1714=)
c.4971G>A (p.Arg1657=)
c.11643G>A (p.Arg3881=)
c.11529G>A (p.Arg3843=)
c.11499G>A (p.Arg3833=)
c.11562G>A (p.Arg3854=)
c.11292G>A (p.Arg3764=)
c.5052G>A (p.Arg1684=)
c.5097G>A (p.Arg1699=)
c.5256G>A (p.Arg1752=)
c.5328G>A (p.Arg1776=)
c.4788G>A (p.Arg1596=)
c.5115G>A (p.Arg1705=)
c.7926G>A (p.Arg2642=)
c.1671G>A (p.Arg557=)
c.5136G>A (p.Arg1712=)
4g.113369721G>CCA440836527ANK2c.11667G>C (p.Arg3889=)
c.5352G>C (p.Arg1784=)
c.1953G>C (p.Arg651=)
c.2451G>C (p.Arg817=)
n.2908G>C
n.2116G>C
n.2860G>C
n.1689G>C
n.3651G>C
n.1632G>C
n.2025G>C
n.8371G>C
n.2997G>C
n.20G>C
n.981G>C
n.3415G>C
n.1630G>C
c.11526G>C (p.Arg3842=)
c.11364G>C (p.Arg3788=)
c.2658G>C (p.Arg886=)
c.981G>C (p.Arg327=)
c.5085G>C (p.Arg1695=)
c.5172G>C (p.Arg1724=)
c.5109G>C (p.Arg1703=)
c.5307G>C (p.Arg1769=)
c.5208G>C (p.Arg1736=)
c.11400G>C (p.Arg3800=)
c.5010G>C (p.Arg1670=)
c.*764G>C (n.*764G>C)
c.11343G>C (p.Arg3781=)
c.4887G>C (p.Arg1629=)
c.11340G>C (p.Arg3780=)
c.4986G>C (p.Arg1662=)
c.11571G>C (p.Arg3857=)
c.5121G>C (p.Arg1707=)
c.5106G>C (p.Arg1702=)
c.11607G>C (p.Arg3869=)
c.5094G>C (p.Arg1698=)
c.11328G>C (p.Arg3776=)
c.5046G>C (p.Arg1682=)
c.5244G>C (p.Arg1748=)
c.2835G>C (p.Arg945=)
c.11427G>C (p.Arg3809=)
c.5316G>C (p.Arg1772=)
c.11463G>C (p.Arg3821=)
c.5073G>C (p.Arg1691=)
c.11265G>C (p.Arg3755=)
c.5145G>C (p.Arg1715=)
c.4689G>C (p.Arg1563=)
c.2820G>C (p.Arg940=)
c.11241G>C (p.Arg3747=)
c.2799G>C (p.Arg933=)
c.11472G>C (p.Arg3824=)
c.5037G>C (p.Arg1679=)
c.4779G>C (p.Arg1593=)
c.11301G>C (p.Arg3767=)
c.5271G>C (p.Arg1757=)
c.2556G>C (p.Arg852=)
c.1227G>C (p.Arg409=)
c.2275G>C
c.*2887G>C (n.*2887G>C)
c.11559G>C (p.Arg3853=)
c.5268G>C (p.Arg1756=)
c.11613G>C (p.Arg3871=)
c.11577G>C (p.Arg3859=)
c.5325G>C (p.Arg1775=)
c.5358G>C (p.Arg1786=)
c.5289G>C (p.Arg1763=)
c.11553G>C (p.Arg3851=)
c.11598G>C (p.Arg3866=)
c.5283G>C (p.Arg1761=)
c.5250G>C (p.Arg1750=)
c.5313G>C (p.Arg1771=)
c.5169G>C (p.Arg1723=)
c.5349G>C (p.Arg1783=)
c.5241G>C (p.Arg1747=)
c.5205G>C (p.Arg1735=)
c.5220G>C (p.Arg1740=)
c.5130G>C (p.Arg1710=)
c.5058G>C (p.Arg1686=)
c.5142G>C (p.Arg1714=)
c.4971G>C (p.Arg1657=)
c.11643G>C (p.Arg3881=)
c.11529G>C (p.Arg3843=)
c.11499G>C (p.Arg3833=)
c.11562G>C (p.Arg3854=)
c.11292G>C (p.Arg3764=)
c.5052G>C (p.Arg1684=)
c.5097G>C (p.Arg1699=)
c.5256G>C (p.Arg1752=)
c.5328G>C (p.Arg1776=)
c.4788G>C (p.Arg1596=)
c.5115G>C (p.Arg1705=)
c.7926G>C (p.Arg2642=)
c.1671G>C (p.Arg557=)
c.5136G>C (p.Arg1712=)
4g.113369721G>TCA440836529ANK2c.11667G>T (p.Arg3889=)
c.5352G>T (p.Arg1784=)
c.1953G>T (p.Arg651=)
c.2451G>T (p.Arg817=)
n.2908G>T
n.2116G>T
n.2860G>T
n.1689G>T
n.3651G>T
n.1632G>T
n.2025G>T
n.8371G>T
n.2997G>T
n.20G>T
n.981G>T
n.3415G>T
n.1630G>T
c.11526G>T (p.Arg3842=)
c.11364G>T (p.Arg3788=)
c.2658G>T (p.Arg886=)
c.981G>T (p.Arg327=)
c.5085G>T (p.Arg1695=)
c.5172G>T (p.Arg1724=)
c.5109G>T (p.Arg1703=)
c.5307G>T (p.Arg1769=)
c.5208G>T (p.Arg1736=)
c.11400G>T (p.Arg3800=)
c.5010G>T (p.Arg1670=)
c.*764G>T (n.*764G>T)
c.11343G>T (p.Arg3781=)
c.4887G>T (p.Arg1629=)
c.11340G>T (p.Arg3780=)
c.4986G>T (p.Arg1662=)
c.11571G>T (p.Arg3857=)
c.5121G>T (p.Arg1707=)
c.5106G>T (p.Arg1702=)
c.11607G>T (p.Arg3869=)
c.5094G>T (p.Arg1698=)
c.11328G>T (p.Arg3776=)
c.5046G>T (p.Arg1682=)
c.5244G>T (p.Arg1748=)
c.2835G>T (p.Arg945=)
c.11427G>T (p.Arg3809=)
c.5316G>T (p.Arg1772=)
c.11463G>T (p.Arg3821=)
c.5073G>T (p.Arg1691=)
c.11265G>T (p.Arg3755=)
c.5145G>T (p.Arg1715=)
c.4689G>T (p.Arg1563=)
c.2820G>T (p.Arg940=)
c.11241G>T (p.Arg3747=)
c.2799G>T (p.Arg933=)
c.11472G>T (p.Arg3824=)
c.5037G>T (p.Arg1679=)
c.4779G>T (p.Arg1593=)
c.11301G>T (p.Arg3767=)
c.5271G>T (p.Arg1757=)
c.2556G>T (p.Arg852=)
c.1227G>T (p.Arg409=)
c.2275G>T
c.*2887G>T (n.*2887G>T)
c.11559G>T (p.Arg3853=)
c.5268G>T (p.Arg1756=)
c.11613G>T (p.Arg3871=)
c.11577G>T (p.Arg3859=)
c.5325G>T (p.Arg1775=)
c.5358G>T (p.Arg1786=)
c.5289G>T (p.Arg1763=)
c.11553G>T (p.Arg3851=)
c.11598G>T (p.Arg3866=)
c.5283G>T (p.Arg1761=)
c.5250G>T (p.Arg1750=)
c.5313G>T (p.Arg1771=)
c.5169G>T (p.Arg1723=)
c.5349G>T (p.Arg1783=)
c.5241G>T (p.Arg1747=)
c.5205G>T (p.Arg1735=)
c.5220G>T (p.Arg1740=)
c.5130G>T (p.Arg1710=)
c.5058G>T (p.Arg1686=)
c.5142G>T (p.Arg1714=)
c.4971G>T (p.Arg1657=)
c.11643G>T (p.Arg3881=)
c.11529G>T (p.Arg3843=)
c.11499G>T (p.Arg3833=)
c.11562G>T (p.Arg3854=)
c.11292G>T (p.Arg3764=)
c.5052G>T (p.Arg1684=)
c.5097G>T (p.Arg1699=)
c.5256G>T (p.Arg1752=)
c.5328G>T (p.Arg1776=)
c.4788G>T (p.Arg1596=)
c.5115G>T (p.Arg1705=)
c.7926G>T (p.Arg2642=)
c.1671G>T (p.Arg557=)
c.5136G>T (p.Arg1712=)
4g.113369722A>CCA357942905ANK2c.11668A>C (p.Lys3890Gln)
c.5353A>C (p.Lys1785Gln)
c.1954A>C (p.Lys652Gln)
c.2452A>C (p.Lys818Gln)
n.2909A>C
n.2117A>C
n.2861A>C
n.1690A>C
n.3652A>C
n.1633A>C
n.2026A>C
n.8372A>C
n.2998A>C
n.21A>C
n.982A>C
n.3416A>C
n.1631A>C
c.11527A>C (p.Lys3843Gln)
c.11365A>C (p.Lys3789Gln)
c.2659A>C (p.Lys887Gln)
c.982A>C (p.Lys328Gln)
c.5086A>C (p.Lys1696Gln)
c.5173A>C (p.Lys1725Gln)
c.5110A>C (p.Lys1704Gln)
c.5308A>C (p.Lys1770Gln)
c.5209A>C (p.Lys1737Gln)
c.11401A>C (p.Lys3801Gln)
c.5011A>C (p.Lys1671Gln)
c.*765A>C (n.*765A>C)
c.11344A>C (p.Lys3782Gln)
c.4888A>C (p.Lys1630Gln)
c.11341A>C (p.Lys3781Gln)
c.4987A>C (p.Lys1663Gln)
c.11572A>C (p.Lys3858Gln)
c.5122A>C (p.Lys1708Gln)
c.5107A>C (p.Lys1703Gln)
c.11608A>C (p.Lys3870Gln)
c.5095A>C (p.Lys1699Gln)
c.11329A>C (p.Lys3777Gln)
c.5047A>C (p.Lys1683Gln)
c.5245A>C (p.Lys1749Gln)
c.2836A>C (p.Lys946Gln)
c.11428A>C (p.Lys3810Gln)
c.5317A>C (p.Lys1773Gln)
c.11464A>C (p.Lys3822Gln)
c.5074A>C (p.Lys1692Gln)
c.11266A>C (p.Lys3756Gln)
c.5146A>C (p.Lys1716Gln)
c.4690A>C (p.Lys1564Gln)
c.2821A>C (p.Lys941Gln)
c.11242A>C (p.Lys3748Gln)
c.2800A>C (p.Lys934Gln)
c.11473A>C (p.Lys3825Gln)
c.5038A>C (p.Lys1680Gln)
c.4780A>C (p.Lys1594Gln)
c.11302A>C (p.Lys3768Gln)
c.5272A>C (p.Lys1758Gln)
c.2557A>C (p.Lys853Gln)
c.1228A>C (p.Lys410Gln)
c.2276A>C
c.*2888A>C (n.*2888A>C)
c.11560A>C (p.Lys3854Gln)
c.5269A>C (p.Lys1757Gln)
c.11614A>C (p.Lys3872Gln)
c.11578A>C (p.Lys3860Gln)
c.5326A>C (p.Lys1776Gln)
c.5359A>C (p.Lys1787Gln)
c.5290A>C (p.Lys1764Gln)
c.11554A>C (p.Lys3852Gln)
c.11599A>C (p.Lys3867Gln)
c.5284A>C (p.Lys1762Gln)
c.5251A>C (p.Lys1751Gln)
c.5314A>C (p.Lys1772Gln)
c.5170A>C (p.Lys1724Gln)
c.5350A>C (p.Lys1784Gln)
c.5242A>C (p.Lys1748Gln)
c.5206A>C (p.Lys1736Gln)
c.5221A>C (p.Lys1741Gln)
c.5131A>C (p.Lys1711Gln)
c.5059A>C (p.Lys1687Gln)
c.5143A>C (p.Lys1715Gln)
c.4972A>C (p.Lys1658Gln)
c.11644A>C (p.Lys3882Gln)
c.11530A>C (p.Lys3844Gln)
c.11500A>C (p.Lys3834Gln)
c.11563A>C (p.Lys3855Gln)
c.11293A>C (p.Lys3765Gln)
c.5053A>C (p.Lys1685Gln)
c.5098A>C (p.Lys1700Gln)
c.5257A>C (p.Lys1753Gln)
c.5329A>C (p.Lys1777Gln)
c.4789A>C (p.Lys1597Gln)
c.5116A>C (p.Lys1706Gln)
c.7927A>C (p.Lys2643Gln)
c.1672A>C (p.Lys558Gln)
c.5137A>C (p.Lys1713Gln)
dbSNP gnomAD v2 gnomAD v4
4g.113369722A>GCA357942906ANK2c.11668A>G (p.Lys3890Glu)
c.5353A>G (p.Lys1785Glu)
c.1954A>G (p.Lys652Glu)
c.2452A>G (p.Lys818Glu)
n.2909A>G
n.2117A>G
n.2861A>G
n.1690A>G
n.3652A>G
n.1633A>G
n.2026A>G
n.8372A>G
n.2998A>G
n.21A>G
n.982A>G
n.3416A>G
n.1631A>G
c.11527A>G (p.Lys3843Glu)
c.11365A>G (p.Lys3789Glu)
c.2659A>G (p.Lys887Glu)
c.982A>G (p.Lys328Glu)
c.5086A>G (p.Lys1696Glu)
c.5173A>G (p.Lys1725Glu)
c.5110A>G (p.Lys1704Glu)
c.5308A>G (p.Lys1770Glu)
c.5209A>G (p.Lys1737Glu)
c.11401A>G (p.Lys3801Glu)
c.5011A>G (p.Lys1671Glu)
c.*765A>G (n.*765A>G)
c.11344A>G (p.Lys3782Glu)
c.4888A>G (p.Lys1630Glu)
c.11341A>G (p.Lys3781Glu)
c.4987A>G (p.Lys1663Glu)
c.11572A>G (p.Lys3858Glu)
c.5122A>G (p.Lys1708Glu)
c.5107A>G (p.Lys1703Glu)
c.11608A>G (p.Lys3870Glu)
c.5095A>G (p.Lys1699Glu)
c.11329A>G (p.Lys3777Glu)
c.5047A>G (p.Lys1683Glu)
c.5245A>G (p.Lys1749Glu)
c.2836A>G (p.Lys946Glu)
c.11428A>G (p.Lys3810Glu)
c.5317A>G (p.Lys1773Glu)
c.11464A>G (p.Lys3822Glu)
c.5074A>G (p.Lys1692Glu)
c.11266A>G (p.Lys3756Glu)
c.5146A>G (p.Lys1716Glu)
c.4690A>G (p.Lys1564Glu)
c.2821A>G (p.Lys941Glu)
c.11242A>G (p.Lys3748Glu)
c.2800A>G (p.Lys934Glu)
c.11473A>G (p.Lys3825Glu)
c.5038A>G (p.Lys1680Glu)
c.4780A>G (p.Lys1594Glu)
c.11302A>G (p.Lys3768Glu)
c.5272A>G (p.Lys1758Glu)
c.2557A>G (p.Lys853Glu)
c.1228A>G (p.Lys410Glu)
c.2276A>G
c.*2888A>G (n.*2888A>G)
c.11560A>G (p.Lys3854Glu)
c.5269A>G (p.Lys1757Glu)
c.11614A>G (p.Lys3872Glu)
c.11578A>G (p.Lys3860Glu)
c.5326A>G (p.Lys1776Glu)
c.5359A>G (p.Lys1787Glu)
c.5290A>G (p.Lys1764Glu)
c.11554A>G (p.Lys3852Glu)
c.11599A>G (p.Lys3867Glu)
c.5284A>G (p.Lys1762Glu)
c.5251A>G (p.Lys1751Glu)
c.5314A>G (p.Lys1772Glu)
c.5170A>G (p.Lys1724Glu)
c.5350A>G (p.Lys1784Glu)
c.5242A>G (p.Lys1748Glu)
c.5206A>G (p.Lys1736Glu)
c.5221A>G (p.Lys1741Glu)
c.5131A>G (p.Lys1711Glu)
c.5059A>G (p.Lys1687Glu)
c.5143A>G (p.Lys1715Glu)
c.4972A>G (p.Lys1658Glu)
c.11644A>G (p.Lys3882Glu)
c.11530A>G (p.Lys3844Glu)
c.11500A>G (p.Lys3834Glu)
c.11563A>G (p.Lys3855Glu)
c.11293A>G (p.Lys3765Glu)
c.5053A>G (p.Lys1685Glu)
c.5098A>G (p.Lys1700Glu)
c.5257A>G (p.Lys1753Glu)
c.5329A>G (p.Lys1777Glu)
c.4789A>G (p.Lys1597Glu)
c.5116A>G (p.Lys1706Glu)
c.7927A>G (p.Lys2643Glu)
c.1672A>G (p.Lys558Glu)
c.5137A>G (p.Lys1713Glu)
4g.113369722A>TCA357942907ANK2c.11668A>T (p.Lys3890Ter)
c.5353A>T (p.Lys1785Ter)
c.1954A>T (p.Lys652Ter)
c.2452A>T (p.Lys818Ter)
n.2909A>T
n.2117A>T
n.2861A>T
n.1690A>T
n.3652A>T
n.1633A>T
n.2026A>T
n.8372A>T
n.2998A>T
n.21A>T
n.982A>T
n.3416A>T
n.1631A>T
c.11527A>T (p.Lys3843Ter)
c.11365A>T (p.Lys3789Ter)
c.2659A>T (p.Lys887Ter)
c.982A>T (p.Lys328Ter)
c.5086A>T (p.Lys1696Ter)
c.5173A>T (p.Lys1725Ter)
c.5110A>T (p.Lys1704Ter)
c.5308A>T (p.Lys1770Ter)
c.5209A>T (p.Lys1737Ter)
c.11401A>T (p.Lys3801Ter)
c.5011A>T (p.Lys1671Ter)
c.*765A>T (n.*765A>T)
c.11344A>T (p.Lys3782Ter)
c.4888A>T (p.Lys1630Ter)
c.11341A>T (p.Lys3781Ter)
c.4987A>T (p.Lys1663Ter)
c.11572A>T (p.Lys3858Ter)
c.5122A>T (p.Lys1708Ter)
c.5107A>T (p.Lys1703Ter)
c.11608A>T (p.Lys3870Ter)
c.5095A>T (p.Lys1699Ter)
c.11329A>T (p.Lys3777Ter)
c.5047A>T (p.Lys1683Ter)
c.5245A>T (p.Lys1749Ter)
c.2836A>T (p.Lys946Ter)
c.11428A>T (p.Lys3810Ter)
c.5317A>T (p.Lys1773Ter)
c.11464A>T (p.Lys3822Ter)
c.5074A>T (p.Lys1692Ter)
c.11266A>T (p.Lys3756Ter)
c.5146A>T (p.Lys1716Ter)
c.4690A>T (p.Lys1564Ter)
c.2821A>T (p.Lys941Ter)
c.11242A>T (p.Lys3748Ter)
c.2800A>T (p.Lys934Ter)
c.11473A>T (p.Lys3825Ter)
c.5038A>T (p.Lys1680Ter)
c.4780A>T (p.Lys1594Ter)
c.11302A>T (p.Lys3768Ter)
c.5272A>T (p.Lys1758Ter)
c.2557A>T (p.Lys853Ter)
c.1228A>T (p.Lys410Ter)
c.2276A>T
c.*2888A>T (n.*2888A>T)
c.11560A>T (p.Lys3854Ter)
c.5269A>T (p.Lys1757Ter)
c.11614A>T (p.Lys3872Ter)
c.11578A>T (p.Lys3860Ter)
c.5326A>T (p.Lys1776Ter)
c.5359A>T (p.Lys1787Ter)
c.5290A>T (p.Lys1764Ter)
c.11554A>T (p.Lys3852Ter)
c.11599A>T (p.Lys3867Ter)
c.5284A>T (p.Lys1762Ter)
c.5251A>T (p.Lys1751Ter)
c.5314A>T (p.Lys1772Ter)
c.5170A>T (p.Lys1724Ter)
c.5350A>T (p.Lys1784Ter)
c.5242A>T (p.Lys1748Ter)
c.5206A>T (p.Lys1736Ter)
c.5221A>T (p.Lys1741Ter)
c.5131A>T (p.Lys1711Ter)
c.5059A>T (p.Lys1687Ter)
c.5143A>T (p.Lys1715Ter)
c.4972A>T (p.Lys1658Ter)
c.11644A>T (p.Lys3882Ter)
c.11530A>T (p.Lys3844Ter)
c.11500A>T (p.Lys3834Ter)
c.11563A>T (p.Lys3855Ter)
c.11293A>T (p.Lys3765Ter)
c.5053A>T (p.Lys1685Ter)
c.5098A>T (p.Lys1700Ter)
c.5257A>T (p.Lys1753Ter)
c.5329A>T (p.Lys1777Ter)
c.4789A>T (p.Lys1597Ter)
c.5116A>T (p.Lys1706Ter)
c.7927A>T (p.Lys2643Ter)
c.1672A>T (p.Lys558Ter)
c.5137A>T (p.Lys1713Ter)
dbSNP
4g.113369723A>CCA357942908ANK2c.11669A>C (p.Lys3890Thr)
c.5354A>C (p.Lys1785Thr)
c.1955A>C (p.Lys652Thr)
c.2453A>C (p.Lys818Thr)
n.2910A>C
n.2118A>C
n.2862A>C
n.1691A>C
n.3653A>C
n.1634A>C
n.2027A>C
n.8373A>C
n.2999A>C
n.22A>C
n.983A>C
n.3417A>C
n.1632A>C
c.11528A>C (p.Lys3843Thr)
c.11366A>C (p.Lys3789Thr)
c.2660A>C (p.Lys887Thr)
c.983A>C (p.Lys328Thr)
c.5087A>C (p.Lys1696Thr)
c.5174A>C (p.Lys1725Thr)
c.5111A>C (p.Lys1704Thr)
c.5309A>C (p.Lys1770Thr)
c.5210A>C (p.Lys1737Thr)
c.11402A>C (p.Lys3801Thr)
c.5012A>C (p.Lys1671Thr)
c.*766A>C (n.*766A>C)
c.11345A>C (p.Lys3782Thr)
c.4889A>C (p.Lys1630Thr)
c.11342A>C (p.Lys3781Thr)
c.4988A>C (p.Lys1663Thr)
c.11573A>C (p.Lys3858Thr)
c.5123A>C (p.Lys1708Thr)
c.5108A>C (p.Lys1703Thr)
c.11609A>C (p.Lys3870Thr)
c.5096A>C (p.Lys1699Thr)
c.11330A>C (p.Lys3777Thr)
c.5048A>C (p.Lys1683Thr)
c.5246A>C (p.Lys1749Thr)
c.2837A>C (p.Lys946Thr)
c.11429A>C (p.Lys3810Thr)
c.5318A>C (p.Lys1773Thr)
c.11465A>C (p.Lys3822Thr)
c.5075A>C (p.Lys1692Thr)
c.11267A>C (p.Lys3756Thr)
c.5147A>C (p.Lys1716Thr)
c.4691A>C (p.Lys1564Thr)
c.2822A>C (p.Lys941Thr)
c.11243A>C (p.Lys3748Thr)
c.2801A>C (p.Lys934Thr)
c.11474A>C (p.Lys3825Thr)
c.5039A>C (p.Lys1680Thr)
c.4781A>C (p.Lys1594Thr)
c.11303A>C (p.Lys3768Thr)
c.5273A>C (p.Lys1758Thr)
c.2558A>C (p.Lys853Thr)
c.1229A>C (p.Lys410Thr)
c.2277A>C
c.*2889A>C (n.*2889A>C)
c.11561A>C (p.Lys3854Thr)
c.5270A>C (p.Lys1757Thr)
c.11615A>C (p.Lys3872Thr)
c.11579A>C (p.Lys3860Thr)
c.5327A>C (p.Lys1776Thr)
c.5360A>C (p.Lys1787Thr)
c.5291A>C (p.Lys1764Thr)
c.11555A>C (p.Lys3852Thr)
c.11600A>C (p.Lys3867Thr)
c.5285A>C (p.Lys1762Thr)
c.5252A>C (p.Lys1751Thr)
c.5315A>C (p.Lys1772Thr)
c.5171A>C (p.Lys1724Thr)
c.5351A>C (p.Lys1784Thr)
c.5243A>C (p.Lys1748Thr)
c.5207A>C (p.Lys1736Thr)
c.5222A>C (p.Lys1741Thr)
c.5132A>C (p.Lys1711Thr)
c.5060A>C (p.Lys1687Thr)
c.5144A>C (p.Lys1715Thr)
c.4973A>C (p.Lys1658Thr)
c.11645A>C (p.Lys3882Thr)
c.11531A>C (p.Lys3844Thr)
c.11501A>C (p.Lys3834Thr)
c.11564A>C (p.Lys3855Thr)
c.11294A>C (p.Lys3765Thr)
c.5054A>C (p.Lys1685Thr)
c.5099A>C (p.Lys1700Thr)
c.5258A>C (p.Lys1753Thr)
c.5330A>C (p.Lys1777Thr)
c.4790A>C (p.Lys1597Thr)
c.5117A>C (p.Lys1706Thr)
c.7928A>C (p.Lys2643Thr)
c.1673A>C (p.Lys558Thr)
c.5138A>C (p.Lys1713Thr)
dbSNP
4g.113369723A>GCA357942909ANK2c.11669A>G (p.Lys3890Arg)
c.5354A>G (p.Lys1785Arg)
c.1955A>G (p.Lys652Arg)
c.2453A>G (p.Lys818Arg)
n.2910A>G
n.2118A>G
n.2862A>G
n.1691A>G
n.3653A>G
n.1634A>G
n.2027A>G
n.8373A>G
n.2999A>G
n.22A>G
n.983A>G
n.3417A>G
n.1632A>G
c.11528A>G (p.Lys3843Arg)
c.11366A>G (p.Lys3789Arg)
c.2660A>G (p.Lys887Arg)
c.983A>G (p.Lys328Arg)
c.5087A>G (p.Lys1696Arg)
c.5174A>G (p.Lys1725Arg)
c.5111A>G (p.Lys1704Arg)
c.5309A>G (p.Lys1770Arg)
c.5210A>G (p.Lys1737Arg)
c.11402A>G (p.Lys3801Arg)
c.5012A>G (p.Lys1671Arg)
c.*766A>G (n.*766A>G)
c.11345A>G (p.Lys3782Arg)
c.4889A>G (p.Lys1630Arg)
c.11342A>G (p.Lys3781Arg)
c.4988A>G (p.Lys1663Arg)
c.11573A>G (p.Lys3858Arg)
c.5123A>G (p.Lys1708Arg)
c.5108A>G (p.Lys1703Arg)
c.11609A>G (p.Lys3870Arg)
c.5096A>G (p.Lys1699Arg)
c.11330A>G (p.Lys3777Arg)
c.5048A>G (p.Lys1683Arg)
c.5246A>G (p.Lys1749Arg)
c.2837A>G (p.Lys946Arg)
c.11429A>G (p.Lys3810Arg)
c.5318A>G (p.Lys1773Arg)
c.11465A>G (p.Lys3822Arg)
c.5075A>G (p.Lys1692Arg)
c.11267A>G (p.Lys3756Arg)
c.5147A>G (p.Lys1716Arg)
c.4691A>G (p.Lys1564Arg)
c.2822A>G (p.Lys941Arg)
c.11243A>G (p.Lys3748Arg)
c.2801A>G (p.Lys934Arg)
c.11474A>G (p.Lys3825Arg)
c.5039A>G (p.Lys1680Arg)
c.4781A>G (p.Lys1594Arg)
c.11303A>G (p.Lys3768Arg)
c.5273A>G (p.Lys1758Arg)
c.2558A>G (p.Lys853Arg)
c.1229A>G (p.Lys410Arg)
c.2277A>G
c.*2889A>G (n.*2889A>G)
c.11561A>G (p.Lys3854Arg)
c.5270A>G (p.Lys1757Arg)
c.11615A>G (p.Lys3872Arg)
c.11579A>G (p.Lys3860Arg)
c.5327A>G (p.Lys1776Arg)
c.5360A>G (p.Lys1787Arg)
c.5291A>G (p.Lys1764Arg)
c.11555A>G (p.Lys3852Arg)
c.11600A>G (p.Lys3867Arg)
c.5285A>G (p.Lys1762Arg)
c.5252A>G (p.Lys1751Arg)
c.5315A>G (p.Lys1772Arg)
c.5171A>G (p.Lys1724Arg)
c.5351A>G (p.Lys1784Arg)
c.5243A>G (p.Lys1748Arg)
c.5207A>G (p.Lys1736Arg)
c.5222A>G (p.Lys1741Arg)
c.5132A>G (p.Lys1711Arg)
c.5060A>G (p.Lys1687Arg)
c.5144A>G (p.Lys1715Arg)
c.4973A>G (p.Lys1658Arg)
c.11645A>G (p.Lys3882Arg)
c.11531A>G (p.Lys3844Arg)
c.11501A>G (p.Lys3834Arg)
c.11564A>G (p.Lys3855Arg)
c.11294A>G (p.Lys3765Arg)
c.5054A>G (p.Lys1685Arg)
c.5099A>G (p.Lys1700Arg)
c.5258A>G (p.Lys1753Arg)
c.5330A>G (p.Lys1777Arg)
c.4790A>G (p.Lys1597Arg)
c.5117A>G (p.Lys1706Arg)
c.7928A>G (p.Lys2643Arg)
c.1673A>G (p.Lys558Arg)
c.5138A>G (p.Lys1713Arg)
dbSNP
4g.113369723A>TCA357942910ANK2c.11669A>T (p.Lys3890Ile)
c.5354A>T (p.Lys1785Ile)
c.1955A>T (p.Lys652Ile)
c.2453A>T (p.Lys818Ile)
n.2910A>T
n.2118A>T
n.2862A>T
n.1691A>T
n.3653A>T
n.1634A>T
n.2027A>T
n.8373A>T
n.2999A>T
n.22A>T
n.983A>T
n.3417A>T
n.1632A>T
c.11528A>T (p.Lys3843Ile)
c.11366A>T (p.Lys3789Ile)
c.2660A>T (p.Lys887Ile)
c.983A>T (p.Lys328Ile)
c.5087A>T (p.Lys1696Ile)
c.5174A>T (p.Lys1725Ile)
c.5111A>T (p.Lys1704Ile)
c.5309A>T (p.Lys1770Ile)
c.5210A>T (p.Lys1737Ile)
c.11402A>T (p.Lys3801Ile)
c.5012A>T (p.Lys1671Ile)
c.*766A>T (n.*766A>T)
c.11345A>T (p.Lys3782Ile)
c.4889A>T (p.Lys1630Ile)
c.11342A>T (p.Lys3781Ile)
c.4988A>T (p.Lys1663Ile)
c.11573A>T (p.Lys3858Ile)
c.5123A>T (p.Lys1708Ile)
c.5108A>T (p.Lys1703Ile)
c.11609A>T (p.Lys3870Ile)
c.5096A>T (p.Lys1699Ile)
c.11330A>T (p.Lys3777Ile)
c.5048A>T (p.Lys1683Ile)
c.5246A>T (p.Lys1749Ile)
c.2837A>T (p.Lys946Ile)
c.11429A>T (p.Lys3810Ile)
c.5318A>T (p.Lys1773Ile)
c.11465A>T (p.Lys3822Ile)
c.5075A>T (p.Lys1692Ile)
c.11267A>T (p.Lys3756Ile)
c.5147A>T (p.Lys1716Ile)
c.4691A>T (p.Lys1564Ile)
c.2822A>T (p.Lys941Ile)
c.11243A>T (p.Lys3748Ile)
c.2801A>T (p.Lys934Ile)
c.11474A>T (p.Lys3825Ile)
c.5039A>T (p.Lys1680Ile)
c.4781A>T (p.Lys1594Ile)
c.11303A>T (p.Lys3768Ile)
c.5273A>T (p.Lys1758Ile)
c.2558A>T (p.Lys853Ile)
c.1229A>T (p.Lys410Ile)
c.2277A>T
c.*2889A>T (n.*2889A>T)
c.11561A>T (p.Lys3854Ile)
c.5270A>T (p.Lys1757Ile)
c.11615A>T (p.Lys3872Ile)
c.11579A>T (p.Lys3860Ile)
c.5327A>T (p.Lys1776Ile)
c.5360A>T (p.Lys1787Ile)
c.5291A>T (p.Lys1764Ile)
c.11555A>T (p.Lys3852Ile)
c.11600A>T (p.Lys3867Ile)
c.5285A>T (p.Lys1762Ile)
c.5252A>T (p.Lys1751Ile)
c.5315A>T (p.Lys1772Ile)
c.5171A>T (p.Lys1724Ile)
c.5351A>T (p.Lys1784Ile)
c.5243A>T (p.Lys1748Ile)
c.5207A>T (p.Lys1736Ile)
c.5222A>T (p.Lys1741Ile)
c.5132A>T (p.Lys1711Ile)
c.5060A>T (p.Lys1687Ile)
c.5144A>T (p.Lys1715Ile)
c.4973A>T (p.Lys1658Ile)
c.11645A>T (p.Lys3882Ile)
c.11531A>T (p.Lys3844Ile)
c.11501A>T (p.Lys3834Ile)
c.11564A>T (p.Lys3855Ile)
c.11294A>T (p.Lys3765Ile)
c.5054A>T (p.Lys1685Ile)
c.5099A>T (p.Lys1700Ile)
c.5258A>T (p.Lys1753Ile)
c.5330A>T (p.Lys1777Ile)
c.4790A>T (p.Lys1597Ile)
c.5117A>T (p.Lys1706Ile)
c.7928A>T (p.Lys2643Ile)
c.1673A>T (p.Lys558Ile)
c.5138A>T (p.Lys1713Ile)
dbSNP
4g.113369724A>CCA357942912ANK2c.11670A>C (p.Lys3890Asn)
c.5355A>C (p.Lys1785Asn)
c.1956A>C (p.Lys652Asn)
c.2454A>C (p.Lys818Asn)
n.2911A>C
n.2119A>C
n.2863A>C
n.1692A>C
n.3654A>C
n.1635A>C
n.2028A>C
n.8374A>C
n.3000A>C
n.23A>C
n.984A>C
n.3418A>C
n.1633A>C
c.11529A>C (p.Lys3843Asn)
c.11367A>C (p.Lys3789Asn)
c.2661A>C (p.Lys887Asn)
c.984A>C (p.Lys328Asn)
c.5088A>C (p.Lys1696Asn)
c.5175A>C (p.Lys1725Asn)
c.5112A>C (p.Lys1704Asn)
c.5310A>C (p.Lys1770Asn)
c.5211A>C (p.Lys1737Asn)
c.11403A>C (p.Lys3801Asn)
c.5013A>C (p.Lys1671Asn)
c.*767A>C (n.*767A>C)
c.11346A>C (p.Lys3782Asn)
c.4890A>C (p.Lys1630Asn)
c.11343A>C (p.Lys3781Asn)
c.4989A>C (p.Lys1663Asn)
c.11574A>C (p.Lys3858Asn)
c.5124A>C (p.Lys1708Asn)
c.5109A>C (p.Lys1703Asn)
c.11610A>C (p.Lys3870Asn)
c.5097A>C (p.Lys1699Asn)
c.11331A>C (p.Lys3777Asn)
c.5049A>C (p.Lys1683Asn)
c.5247A>C (p.Lys1749Asn)
c.2838A>C (p.Lys946Asn)
c.11430A>C (p.Lys3810Asn)
c.5319A>C (p.Lys1773Asn)
c.11466A>C (p.Lys3822Asn)
c.5076A>C (p.Lys1692Asn)
c.11268A>C (p.Lys3756Asn)
c.5148A>C (p.Lys1716Asn)
c.4692A>C (p.Lys1564Asn)
c.2823A>C (p.Lys941Asn)
c.11244A>C (p.Lys3748Asn)
c.2802A>C (p.Lys934Asn)
c.11475A>C (p.Lys3825Asn)
c.5040A>C (p.Lys1680Asn)
c.4782A>C (p.Lys1594Asn)
c.11304A>C (p.Lys3768Asn)
c.5274A>C (p.Lys1758Asn)
c.2559A>C (p.Lys853Asn)
c.1230A>C (p.Lys410Asn)
c.2278A>C
c.*2890A>C (n.*2890A>C)
c.11562A>C (p.Lys3854Asn)
c.5271A>C (p.Lys1757Asn)
c.11616A>C (p.Lys3872Asn)
c.11580A>C (p.Lys3860Asn)
c.5328A>C (p.Lys1776Asn)
c.5361A>C (p.Lys1787Asn)
c.5292A>C (p.Lys1764Asn)
c.11556A>C (p.Lys3852Asn)
c.11601A>C (p.Lys3867Asn)
c.5286A>C (p.Lys1762Asn)
c.5253A>C (p.Lys1751Asn)
c.5316A>C (p.Lys1772Asn)
c.5172A>C (p.Lys1724Asn)
c.5352A>C (p.Lys1784Asn)
c.5244A>C (p.Lys1748Asn)
c.5208A>C (p.Lys1736Asn)
c.5223A>C (p.Lys1741Asn)
c.5133A>C (p.Lys1711Asn)
c.5061A>C (p.Lys1687Asn)
c.5145A>C (p.Lys1715Asn)
c.4974A>C (p.Lys1658Asn)
c.11646A>C (p.Lys3882Asn)
c.11532A>C (p.Lys3844Asn)
c.11502A>C (p.Lys3834Asn)
c.11565A>C (p.Lys3855Asn)
c.11295A>C (p.Lys3765Asn)
c.5055A>C (p.Lys1685Asn)
c.5100A>C (p.Lys1700Asn)
c.5259A>C (p.Lys1753Asn)
c.5331A>C (p.Lys1777Asn)
c.4791A>C (p.Lys1597Asn)
c.5118A>C (p.Lys1706Asn)
c.7929A>C (p.Lys2643Asn)
c.1674A>C (p.Lys558Asn)
c.5139A>C (p.Lys1713Asn)
dbSNP
4g.113369724A>GCA440836541ANK2c.11670A>G (p.Lys3890=)
c.5355A>G (p.Lys1785=)
c.1956A>G (p.Lys652=)
c.2454A>G (p.Lys818=)
n.2911A>G
n.2119A>G
n.2863A>G
n.1692A>G
n.3654A>G
n.1635A>G
n.2028A>G
n.8374A>G
n.3000A>G
n.23A>G
n.984A>G
n.3418A>G
n.1633A>G
c.11529A>G (p.Lys3843=)
c.11367A>G (p.Lys3789=)
c.2661A>G (p.Lys887=)
c.984A>G (p.Lys328=)
c.5088A>G (p.Lys1696=)
c.5175A>G (p.Lys1725=)
c.5112A>G (p.Lys1704=)
c.5310A>G (p.Lys1770=)
c.5211A>G (p.Lys1737=)
c.11403A>G (p.Lys3801=)
c.5013A>G (p.Lys1671=)
c.*767A>G (n.*767A>G)
c.11346A>G (p.Lys3782=)
c.4890A>G (p.Lys1630=)
c.11343A>G (p.Lys3781=)
c.4989A>G (p.Lys1663=)
c.11574A>G (p.Lys3858=)
c.5124A>G (p.Lys1708=)
c.5109A>G (p.Lys1703=)
c.11610A>G (p.Lys3870=)
c.5097A>G (p.Lys1699=)
c.11331A>G (p.Lys3777=)
c.5049A>G (p.Lys1683=)
c.5247A>G (p.Lys1749=)
c.2838A>G (p.Lys946=)
c.11430A>G (p.Lys3810=)
c.5319A>G (p.Lys1773=)
c.11466A>G (p.Lys3822=)
c.5076A>G (p.Lys1692=)
c.11268A>G (p.Lys3756=)
c.5148A>G (p.Lys1716=)
c.4692A>G (p.Lys1564=)
c.2823A>G (p.Lys941=)
c.11244A>G (p.Lys3748=)
c.2802A>G (p.Lys934=)
c.11475A>G (p.Lys3825=)
c.5040A>G (p.Lys1680=)
c.4782A>G (p.Lys1594=)
c.11304A>G (p.Lys3768=)
c.5274A>G (p.Lys1758=)
c.2559A>G (p.Lys853=)
c.1230A>G (p.Lys410=)
c.2278A>G
c.*2890A>G (n.*2890A>G)
c.11562A>G (p.Lys3854=)
c.5271A>G (p.Lys1757=)
c.11616A>G (p.Lys3872=)
c.11580A>G (p.Lys3860=)
c.5328A>G (p.Lys1776=)
c.5361A>G (p.Lys1787=)
c.5292A>G (p.Lys1764=)
c.11556A>G (p.Lys3852=)
c.11601A>G (p.Lys3867=)
c.5286A>G (p.Lys1762=)
c.5253A>G (p.Lys1751=)
c.5316A>G (p.Lys1772=)
c.5172A>G (p.Lys1724=)
c.5352A>G (p.Lys1784=)
c.5244A>G (p.Lys1748=)
c.5208A>G (p.Lys1736=)
c.5223A>G (p.Lys1741=)
c.5133A>G (p.Lys1711=)
c.5061A>G (p.Lys1687=)
c.5145A>G (p.Lys1715=)
c.4974A>G (p.Lys1658=)
c.11646A>G (p.Lys3882=)
c.11532A>G (p.Lys3844=)
c.11502A>G (p.Lys3834=)
c.11565A>G (p.Lys3855=)
c.11295A>G (p.Lys3765=)
c.5055A>G (p.Lys1685=)
c.5100A>G (p.Lys1700=)
c.5259A>G (p.Lys1753=)
c.5331A>G (p.Lys1777=)
c.4791A>G (p.Lys1597=)
c.5118A>G (p.Lys1706=)
c.7929A>G (p.Lys2643=)
c.1674A>G (p.Lys558=)
c.5139A>G (p.Lys1713=)
ClinVar dbSNP
4g.113369724A>TCA357942911ANK2c.11670A>T (p.Lys3890Asn)
c.5355A>T (p.Lys1785Asn)
c.1956A>T (p.Lys652Asn)
c.2454A>T (p.Lys818Asn)
n.2911A>T
n.2119A>T
n.2863A>T
n.1692A>T
n.3654A>T
n.1635A>T
n.2028A>T
n.8374A>T
n.3000A>T
n.23A>T
n.984A>T
n.3418A>T
n.1633A>T
c.11529A>T (p.Lys3843Asn)
c.11367A>T (p.Lys3789Asn)
c.2661A>T (p.Lys887Asn)
c.984A>T (p.Lys328Asn)
c.5088A>T (p.Lys1696Asn)
c.5175A>T (p.Lys1725Asn)
c.5112A>T (p.Lys1704Asn)
c.5310A>T (p.Lys1770Asn)
c.5211A>T (p.Lys1737Asn)
c.11403A>T (p.Lys3801Asn)
c.5013A>T (p.Lys1671Asn)
c.*767A>T (n.*767A>T)
c.11346A>T (p.Lys3782Asn)
c.4890A>T (p.Lys1630Asn)
c.11343A>T (p.Lys3781Asn)
c.4989A>T (p.Lys1663Asn)
c.11574A>T (p.Lys3858Asn)
c.5124A>T (p.Lys1708Asn)
c.5109A>T (p.Lys1703Asn)
c.11610A>T (p.Lys3870Asn)
c.5097A>T (p.Lys1699Asn)
c.11331A>T (p.Lys3777Asn)
c.5049A>T (p.Lys1683Asn)
c.5247A>T (p.Lys1749Asn)
c.2838A>T (p.Lys946Asn)
c.11430A>T (p.Lys3810Asn)
c.5319A>T (p.Lys1773Asn)
c.11466A>T (p.Lys3822Asn)
c.5076A>T (p.Lys1692Asn)
c.11268A>T (p.Lys3756Asn)
c.5148A>T (p.Lys1716Asn)
c.4692A>T (p.Lys1564Asn)
c.2823A>T (p.Lys941Asn)
c.11244A>T (p.Lys3748Asn)
c.2802A>T (p.Lys934Asn)
c.11475A>T (p.Lys3825Asn)
c.5040A>T (p.Lys1680Asn)
c.4782A>T (p.Lys1594Asn)
c.11304A>T (p.Lys3768Asn)
c.5274A>T (p.Lys1758Asn)
c.2559A>T (p.Lys853Asn)
c.1230A>T (p.Lys410Asn)
c.2278A>T
c.*2890A>T (n.*2890A>T)
c.11562A>T (p.Lys3854Asn)
c.5271A>T (p.Lys1757Asn)
c.11616A>T (p.Lys3872Asn)
c.11580A>T (p.Lys3860Asn)
c.5328A>T (p.Lys1776Asn)
c.5361A>T (p.Lys1787Asn)
c.5292A>T (p.Lys1764Asn)
c.11556A>T (p.Lys3852Asn)
c.11601A>T (p.Lys3867Asn)
c.5286A>T (p.Lys1762Asn)
c.5253A>T (p.Lys1751Asn)
c.5316A>T (p.Lys1772Asn)
c.5172A>T (p.Lys1724Asn)
c.5352A>T (p.Lys1784Asn)
c.5244A>T (p.Lys1748Asn)
c.5208A>T (p.Lys1736Asn)
c.5223A>T (p.Lys1741Asn)
c.5133A>T (p.Lys1711Asn)
c.5061A>T (p.Lys1687Asn)
c.5145A>T (p.Lys1715Asn)
c.4974A>T (p.Lys1658Asn)
c.11646A>T (p.Lys3882Asn)
c.11532A>T (p.Lys3844Asn)
c.11502A>T (p.Lys3834Asn)
c.11565A>T (p.Lys3855Asn)
c.11295A>T (p.Lys3765Asn)
c.5055A>T (p.Lys1685Asn)
c.5100A>T (p.Lys1700Asn)
c.5259A>T (p.Lys1753Asn)
c.5331A>T (p.Lys1777Asn)
c.4791A>T (p.Lys1597Asn)
c.5118A>T (p.Lys1706Asn)
c.7929A>T (p.Lys2643Asn)
c.1674A>T (p.Lys558Asn)
c.5139A>T (p.Lys1713Asn)
dbSNP
4g.113369725A>CCA357942913ANK2c.11671A>C (p.Thr3891Pro)
c.5356A>C (p.Thr1786Pro)
c.1957A>C (p.Thr653Pro)
c.2455A>C (p.Thr819Pro)
n.2912A>C
n.2120A>C
n.2864A>C
n.1693A>C
n.3655A>C
n.1636A>C
n.2029A>C
n.8375A>C
n.3001A>C
n.24A>C
n.985A>C
n.3419A>C
n.1634A>C
c.11530A>C (p.Thr3844Pro)
c.11368A>C (p.Thr3790Pro)
c.2662A>C (p.Thr888Pro)
c.985A>C (p.Thr329Pro)
c.5089A>C (p.Thr1697Pro)
c.5176A>C (p.Thr1726Pro)
c.5113A>C (p.Thr1705Pro)
c.5311A>C (p.Thr1771Pro)
c.5212A>C (p.Thr1738Pro)
c.11404A>C (p.Thr3802Pro)
c.5014A>C (p.Thr1672Pro)
c.*768A>C (n.*768A>C)
c.11347A>C (p.Thr3783Pro)
c.4891A>C (p.Thr1631Pro)
c.11344A>C (p.Thr3782Pro)
c.4990A>C (p.Thr1664Pro)
c.11575A>C (p.Thr3859Pro)
c.5125A>C (p.Thr1709Pro)
c.5110A>C (p.Thr1704Pro)
c.11611A>C (p.Thr3871Pro)
c.5098A>C (p.Thr1700Pro)
c.11332A>C (p.Thr3778Pro)
c.5050A>C (p.Thr1684Pro)
c.5248A>C (p.Thr1750Pro)
c.2839A>C (p.Thr947Pro)
c.11431A>C (p.Thr3811Pro)
c.5320A>C (p.Thr1774Pro)
c.11467A>C (p.Thr3823Pro)
c.5077A>C (p.Thr1693Pro)
c.11269A>C (p.Thr3757Pro)
c.5149A>C (p.Thr1717Pro)
c.4693A>C (p.Thr1565Pro)
c.2824A>C (p.Thr942Pro)
c.11245A>C (p.Thr3749Pro)
c.2803A>C (p.Thr935Pro)
c.11476A>C (p.Thr3826Pro)
c.5041A>C (p.Thr1681Pro)
c.4783A>C (p.Thr1595Pro)
c.11305A>C (p.Thr3769Pro)
c.5275A>C (p.Thr1759Pro)
c.2560A>C (p.Thr854Pro)
c.1231A>C (p.Thr411Pro)
c.2279A>C
c.*2891A>C (n.*2891A>C)
c.11563A>C (p.Thr3855Pro)
c.5272A>C (p.Thr1758Pro)
c.11617A>C (p.Thr3873Pro)
c.11581A>C (p.Thr3861Pro)
c.5329A>C (p.Thr1777Pro)
c.5362A>C (p.Thr1788Pro)
c.5293A>C (p.Thr1765Pro)
c.11557A>C (p.Thr3853Pro)
c.11602A>C (p.Thr3868Pro)
c.5287A>C (p.Thr1763Pro)
c.5254A>C (p.Thr1752Pro)
c.5317A>C (p.Thr1773Pro)
c.5173A>C (p.Thr1725Pro)
c.5353A>C (p.Thr1785Pro)
c.5245A>C (p.Thr1749Pro)
c.5209A>C (p.Thr1737Pro)
c.5224A>C (p.Thr1742Pro)
c.5134A>C (p.Thr1712Pro)
c.5062A>C (p.Thr1688Pro)
c.5146A>C (p.Thr1716Pro)
c.4975A>C (p.Thr1659Pro)
c.11647A>C (p.Thr3883Pro)
c.11533A>C (p.Thr3845Pro)
c.11503A>C (p.Thr3835Pro)
c.11566A>C (p.Thr3856Pro)
c.11296A>C (p.Thr3766Pro)
c.5056A>C (p.Thr1686Pro)
c.5101A>C (p.Thr1701Pro)
c.5260A>C (p.Thr1754Pro)
c.5332A>C (p.Thr1778Pro)
c.4792A>C (p.Thr1598Pro)
c.5119A>C (p.Thr1707Pro)
c.7930A>C (p.Thr2644Pro)
c.1675A>C (p.Thr559Pro)
c.5140A>C (p.Thr1714Pro)
dbSNP
4g.113369725A>GCA357942914ANK2c.11671A>G (p.Thr3891Ala)
c.5356A>G (p.Thr1786Ala)
c.1957A>G (p.Thr653Ala)
c.2455A>G (p.Thr819Ala)
n.2912A>G
n.2120A>G
n.2864A>G
n.1693A>G
n.3655A>G
n.1636A>G
n.2029A>G
n.8375A>G
n.3001A>G
n.24A>G
n.985A>G
n.3419A>G
n.1634A>G
c.11530A>G (p.Thr3844Ala)
c.11368A>G (p.Thr3790Ala)
c.2662A>G (p.Thr888Ala)
c.985A>G (p.Thr329Ala)
c.5089A>G (p.Thr1697Ala)
c.5176A>G (p.Thr1726Ala)
c.5113A>G (p.Thr1705Ala)
c.5311A>G (p.Thr1771Ala)
c.5212A>G (p.Thr1738Ala)
c.11404A>G (p.Thr3802Ala)
c.5014A>G (p.Thr1672Ala)
c.*768A>G (n.*768A>G)
c.11347A>G (p.Thr3783Ala)
c.4891A>G (p.Thr1631Ala)
c.11344A>G (p.Thr3782Ala)
c.4990A>G (p.Thr1664Ala)
c.11575A>G (p.Thr3859Ala)
c.5125A>G (p.Thr1709Ala)
c.5110A>G (p.Thr1704Ala)
c.11611A>G (p.Thr3871Ala)
c.5098A>G (p.Thr1700Ala)
c.11332A>G (p.Thr3778Ala)
c.5050A>G (p.Thr1684Ala)
c.5248A>G (p.Thr1750Ala)
c.2839A>G (p.Thr947Ala)
c.11431A>G (p.Thr3811Ala)
c.5320A>G (p.Thr1774Ala)
c.11467A>G (p.Thr3823Ala)
c.5077A>G (p.Thr1693Ala)
c.11269A>G (p.Thr3757Ala)
c.5149A>G (p.Thr1717Ala)
c.4693A>G (p.Thr1565Ala)
c.2824A>G (p.Thr942Ala)
c.11245A>G (p.Thr3749Ala)
c.2803A>G (p.Thr935Ala)
c.11476A>G (p.Thr3826Ala)
c.5041A>G (p.Thr1681Ala)
c.4783A>G (p.Thr1595Ala)
c.11305A>G (p.Thr3769Ala)
c.5275A>G (p.Thr1759Ala)
c.2560A>G (p.Thr854Ala)
c.1231A>G (p.Thr411Ala)
c.2279A>G
c.*2891A>G (n.*2891A>G)
c.11563A>G (p.Thr3855Ala)
c.5272A>G (p.Thr1758Ala)
c.11617A>G (p.Thr3873Ala)
c.11581A>G (p.Thr3861Ala)
c.5329A>G (p.Thr1777Ala)
c.5362A>G (p.Thr1788Ala)
c.5293A>G (p.Thr1765Ala)
c.11557A>G (p.Thr3853Ala)
c.11602A>G (p.Thr3868Ala)
c.5287A>G (p.Thr1763Ala)
c.5254A>G (p.Thr1752Ala)
c.5317A>G (p.Thr1773Ala)
c.5173A>G (p.Thr1725Ala)
c.5353A>G (p.Thr1785Ala)
c.5245A>G (p.Thr1749Ala)
c.5209A>G (p.Thr1737Ala)
c.5224A>G (p.Thr1742Ala)
c.5134A>G (p.Thr1712Ala)
c.5062A>G (p.Thr1688Ala)
c.5146A>G (p.Thr1716Ala)
c.4975A>G (p.Thr1659Ala)
c.11647A>G (p.Thr3883Ala)
c.11533A>G (p.Thr3845Ala)
c.11503A>G (p.Thr3835Ala)
c.11566A>G (p.Thr3856Ala)
c.11296A>G (p.Thr3766Ala)
c.5056A>G (p.Thr1686Ala)
c.5101A>G (p.Thr1701Ala)
c.5260A>G (p.Thr1754Ala)
c.5332A>G (p.Thr1778Ala)
c.4792A>G (p.Thr1598Ala)
c.5119A>G (p.Thr1707Ala)
c.7930A>G (p.Thr2644Ala)
c.1675A>G (p.Thr559Ala)
c.5140A>G (p.Thr1714Ala)
4g.113369725A>TCA357942915ANK2c.11671A>T (p.Thr3891Ser)
c.5356A>T (p.Thr1786Ser)
c.1957A>T (p.Thr653Ser)
c.2455A>T (p.Thr819Ser)
n.2912A>T
n.2120A>T
n.2864A>T
n.1693A>T
n.3655A>T
n.1636A>T
n.2029A>T
n.8375A>T
n.3001A>T
n.24A>T
n.985A>T
n.3419A>T
n.1634A>T
c.11530A>T (p.Thr3844Ser)
c.11368A>T (p.Thr3790Ser)
c.2662A>T (p.Thr888Ser)
c.985A>T (p.Thr329Ser)
c.5089A>T (p.Thr1697Ser)
c.5176A>T (p.Thr1726Ser)
c.5113A>T (p.Thr1705Ser)
c.5311A>T (p.Thr1771Ser)
c.5212A>T (p.Thr1738Ser)
c.11404A>T (p.Thr3802Ser)
c.5014A>T (p.Thr1672Ser)
c.*768A>T (n.*768A>T)
c.11347A>T (p.Thr3783Ser)
c.4891A>T (p.Thr1631Ser)
c.11344A>T (p.Thr3782Ser)
c.4990A>T (p.Thr1664Ser)
c.11575A>T (p.Thr3859Ser)
c.5125A>T (p.Thr1709Ser)
c.5110A>T (p.Thr1704Ser)
c.11611A>T (p.Thr3871Ser)
c.5098A>T (p.Thr1700Ser)
c.11332A>T (p.Thr3778Ser)
c.5050A>T (p.Thr1684Ser)
c.5248A>T (p.Thr1750Ser)
c.2839A>T (p.Thr947Ser)
c.11431A>T (p.Thr3811Ser)
c.5320A>T (p.Thr1774Ser)
c.11467A>T (p.Thr3823Ser)
c.5077A>T (p.Thr1693Ser)
c.11269A>T (p.Thr3757Ser)
c.5149A>T (p.Thr1717Ser)
c.4693A>T (p.Thr1565Ser)
c.2824A>T (p.Thr942Ser)
c.11245A>T (p.Thr3749Ser)
c.2803A>T (p.Thr935Ser)
c.11476A>T (p.Thr3826Ser)
c.5041A>T (p.Thr1681Ser)
c.4783A>T (p.Thr1595Ser)
c.11305A>T (p.Thr3769Ser)
c.5275A>T (p.Thr1759Ser)
c.2560A>T (p.Thr854Ser)
c.1231A>T (p.Thr411Ser)
c.2279A>T
c.*2891A>T (n.*2891A>T)
c.11563A>T (p.Thr3855Ser)
c.5272A>T (p.Thr1758Ser)
c.11617A>T (p.Thr3873Ser)
c.11581A>T (p.Thr3861Ser)
c.5329A>T (p.Thr1777Ser)
c.5362A>T (p.Thr1788Ser)
c.5293A>T (p.Thr1765Ser)
c.11557A>T (p.Thr3853Ser)
c.11602A>T (p.Thr3868Ser)
c.5287A>T (p.Thr1763Ser)
c.5254A>T (p.Thr1752Ser)
c.5317A>T (p.Thr1773Ser)
c.5173A>T (p.Thr1725Ser)
c.5353A>T (p.Thr1785Ser)
c.5245A>T (p.Thr1749Ser)
c.5209A>T (p.Thr1737Ser)
c.5224A>T (p.Thr1742Ser)
c.5134A>T (p.Thr1712Ser)
c.5062A>T (p.Thr1688Ser)
c.5146A>T (p.Thr1716Ser)
c.4975A>T (p.Thr1659Ser)
c.11647A>T (p.Thr3883Ser)
c.11533A>T (p.Thr3845Ser)
c.11503A>T (p.Thr3835Ser)
c.11566A>T (p.Thr3856Ser)
c.11296A>T (p.Thr3766Ser)
c.5056A>T (p.Thr1686Ser)
c.5101A>T (p.Thr1701Ser)
c.5260A>T (p.Thr1754Ser)
c.5332A>T (p.Thr1778Ser)
c.4792A>T (p.Thr1598Ser)
c.5119A>T (p.Thr1707Ser)
c.7930A>T (p.Thr2644Ser)
c.1675A>T (p.Thr559Ser)
c.5140A>T (p.Thr1714Ser)
4g.113369726C>ACA329740ANK2c.11672C>A (p.Thr3891Asn)
c.5357C>A (p.Thr1786Asn)
c.1958C>A (p.Thr653Asn)
c.2456C>A (p.Thr819Asn)
n.2913C>A
n.2121C>A
n.2865C>A
n.1694C>A
n.3656C>A
n.1637C>A
n.2030C>A
n.8376C>A
n.3002C>A
n.25C>A
n.986C>A
n.3420C>A
n.1635C>A
c.11531C>A (p.Thr3844Asn)
c.11369C>A (p.Thr3790Asn)
c.2663C>A (p.Thr888Asn)
c.986C>A (p.Thr329Asn)
c.5090C>A (p.Thr1697Asn)
c.5177C>A (p.Thr1726Asn)
c.5114C>A (p.Thr1705Asn)
c.5312C>A (p.Thr1771Asn)
c.5213C>A (p.Thr1738Asn)
c.11405C>A (p.Thr3802Asn)
c.5015C>A (p.Thr1672Asn)
c.*769C>A (n.*769C>A)
c.11348C>A (p.Thr3783Asn)
c.4892C>A (p.Thr1631Asn)
c.11345C>A (p.Thr3782Asn)
c.4991C>A (p.Thr1664Asn)
c.11576C>A (p.Thr3859Asn)
c.5126C>A (p.Thr1709Asn)
c.5111C>A (p.Thr1704Asn)
c.11612C>A (p.Thr3871Asn)
c.5099C>A (p.Thr1700Asn)
c.11333C>A (p.Thr3778Asn)
c.5051C>A (p.Thr1684Asn)
c.5249C>A (p.Thr1750Asn)
c.2840C>A (p.Thr947Asn)
c.11432C>A (p.Thr3811Asn)
c.5321C>A (p.Thr1774Asn)
c.11468C>A (p.Thr3823Asn)
c.5078C>A (p.Thr1693Asn)
c.11270C>A (p.Thr3757Asn)
c.5150C>A (p.Thr1717Asn)
c.4694C>A (p.Thr1565Asn)
c.2825C>A (p.Thr942Asn)
c.11246C>A (p.Thr3749Asn)
c.2804C>A (p.Thr935Asn)
c.11477C>A (p.Thr3826Asn)
c.5042C>A (p.Thr1681Asn)
c.4784C>A (p.Thr1595Asn)
c.11306C>A (p.Thr3769Asn)
c.5276C>A (p.Thr1759Asn)
c.2561C>A (p.Thr854Asn)
c.1232C>A (p.Thr411Asn)
c.2280C>A
c.*2892C>A (n.*2892C>A)
c.11564C>A (p.Thr3855Asn)
c.5273C>A (p.Thr1758Asn)
c.11618C>A (p.Thr3873Asn)
c.11582C>A (p.Thr3861Asn)
c.5330C>A (p.Thr1777Asn)
c.5363C>A (p.Thr1788Asn)
c.5294C>A (p.Thr1765Asn)
c.11558C>A (p.Thr3853Asn)
c.11603C>A (p.Thr3868Asn)
c.5288C>A (p.Thr1763Asn)
c.5255C>A (p.Thr1752Asn)
c.5318C>A (p.Thr1773Asn)
c.5174C>A (p.Thr1725Asn)
c.5354C>A (p.Thr1785Asn)
c.5246C>A (p.Thr1749Asn)
c.5210C>A (p.Thr1737Asn)
c.5225C>A (p.Thr1742Asn)
c.5135C>A (p.Thr1712Asn)
c.5063C>A (p.Thr1688Asn)
c.5147C>A (p.Thr1716Asn)
c.4976C>A (p.Thr1659Asn)
c.11648C>A (p.Thr3883Asn)
c.11534C>A (p.Thr3845Asn)
c.11504C>A (p.Thr3835Asn)
c.11567C>A (p.Thr3856Asn)
c.11297C>A (p.Thr3766Asn)
c.5057C>A (p.Thr1686Asn)
c.5102C>A (p.Thr1701Asn)
c.5261C>A (p.Thr1754Asn)
c.5333C>A (p.Thr1778Asn)
c.4793C>A (p.Thr1598Asn)
c.5120C>A (p.Thr1707Asn)
c.7931C>A (p.Thr2644Asn)
c.1676C>A (p.Thr559Asn)
c.5141C>A (p.Thr1714Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.113369726C>GCA357942916ANK2c.11672C>G (p.Thr3891Ser)
c.5357C>G (p.Thr1786Ser)
c.1958C>G (p.Thr653Ser)
c.2456C>G (p.Thr819Ser)
n.2913C>G
n.2121C>G
n.2865C>G
n.1694C>G
n.3656C>G
n.1637C>G
n.2030C>G
n.8376C>G
n.3002C>G
n.25C>G
n.986C>G
n.3420C>G
n.1635C>G
c.11531C>G (p.Thr3844Ser)
c.11369C>G (p.Thr3790Ser)
c.2663C>G (p.Thr888Ser)
c.986C>G (p.Thr329Ser)
c.5090C>G (p.Thr1697Ser)
c.5177C>G (p.Thr1726Ser)
c.5114C>G (p.Thr1705Ser)
c.5312C>G (p.Thr1771Ser)
c.5213C>G (p.Thr1738Ser)
c.11405C>G (p.Thr3802Ser)
c.5015C>G (p.Thr1672Ser)
c.*769C>G (n.*769C>G)
c.11348C>G (p.Thr3783Ser)
c.4892C>G (p.Thr1631Ser)
c.11345C>G (p.Thr3782Ser)
c.4991C>G (p.Thr1664Ser)
c.11576C>G (p.Thr3859Ser)
c.5126C>G (p.Thr1709Ser)
c.5111C>G (p.Thr1704Ser)
c.11612C>G (p.Thr3871Ser)
c.5099C>G (p.Thr1700Ser)
c.11333C>G (p.Thr3778Ser)
c.5051C>G (p.Thr1684Ser)
c.5249C>G (p.Thr1750Ser)
c.2840C>G (p.Thr947Ser)
c.11432C>G (p.Thr3811Ser)
c.5321C>G (p.Thr1774Ser)
c.11468C>G (p.Thr3823Ser)
c.5078C>G (p.Thr1693Ser)
c.11270C>G (p.Thr3757Ser)
c.5150C>G (p.Thr1717Ser)
c.4694C>G (p.Thr1565Ser)
c.2825C>G (p.Thr942Ser)
c.11246C>G (p.Thr3749Ser)
c.2804C>G (p.Thr935Ser)
c.11477C>G (p.Thr3826Ser)
c.5042C>G (p.Thr1681Ser)
c.4784C>G (p.Thr1595Ser)
c.11306C>G (p.Thr3769Ser)
c.5276C>G (p.Thr1759Ser)
c.2561C>G (p.Thr854Ser)
c.1232C>G (p.Thr411Ser)
c.2280C>G
c.*2892C>G (n.*2892C>G)
c.11564C>G (p.Thr3855Ser)
c.5273C>G (p.Thr1758Ser)
c.11618C>G (p.Thr3873Ser)
c.11582C>G (p.Thr3861Ser)
c.5330C>G (p.Thr1777Ser)
c.5363C>G (p.Thr1788Ser)
c.5294C>G (p.Thr1765Ser)
c.11558C>G (p.Thr3853Ser)
c.11603C>G (p.Thr3868Ser)
c.5288C>G (p.Thr1763Ser)
c.5255C>G (p.Thr1752Ser)
c.5318C>G (p.Thr1773Ser)
c.5174C>G (p.Thr1725Ser)
c.5354C>G (p.Thr1785Ser)
c.5246C>G (p.Thr1749Ser)
c.5210C>G (p.Thr1737Ser)
c.5225C>G (p.Thr1742Ser)
c.5135C>G (p.Thr1712Ser)
c.5063C>G (p.Thr1688Ser)
c.5147C>G (p.Thr1716Ser)
c.4976C>G (p.Thr1659Ser)
c.11648C>G (p.Thr3883Ser)
c.11534C>G (p.Thr3845Ser)
c.11504C>G (p.Thr3835Ser)
c.11567C>G (p.Thr3856Ser)
c.11297C>G (p.Thr3766Ser)
c.5057C>G (p.Thr1686Ser)
c.5102C>G (p.Thr1701Ser)
c.5261C>G (p.Thr1754Ser)
c.5333C>G (p.Thr1778Ser)
c.4793C>G (p.Thr1598Ser)
c.5120C>G (p.Thr1707Ser)
c.7931C>G (p.Thr2644Ser)
c.1676C>G (p.Thr559Ser)
c.5141C>G (p.Thr1714Ser)
dbSNP
4g.113369726C>TCA357942917ANK2c.11672C>T (p.Thr3891Ile)
c.5357C>T (p.Thr1786Ile)
c.1958C>T (p.Thr653Ile)
c.2456C>T (p.Thr819Ile)
n.2913C>T
n.2121C>T
n.2865C>T
n.1694C>T
n.3656C>T
n.1637C>T
n.2030C>T
n.8376C>T
n.3002C>T
n.25C>T
n.986C>T
n.3420C>T
n.1635C>T
c.11531C>T (p.Thr3844Ile)
c.11369C>T (p.Thr3790Ile)
c.2663C>T (p.Thr888Ile)
c.986C>T (p.Thr329Ile)
c.5090C>T (p.Thr1697Ile)
c.5177C>T (p.Thr1726Ile)
c.5114C>T (p.Thr1705Ile)
c.5312C>T (p.Thr1771Ile)
c.5213C>T (p.Thr1738Ile)
c.11405C>T (p.Thr3802Ile)
c.5015C>T (p.Thr1672Ile)
c.*769C>T (n.*769C>T)
c.11348C>T (p.Thr3783Ile)
c.4892C>T (p.Thr1631Ile)
c.11345C>T (p.Thr3782Ile)
c.4991C>T (p.Thr1664Ile)
c.11576C>T (p.Thr3859Ile)
c.5126C>T (p.Thr1709Ile)
c.5111C>T (p.Thr1704Ile)
c.11612C>T (p.Thr3871Ile)
c.5099C>T (p.Thr1700Ile)
c.11333C>T (p.Thr3778Ile)
c.5051C>T (p.Thr1684Ile)
c.5249C>T (p.Thr1750Ile)
c.2840C>T (p.Thr947Ile)
c.11432C>T (p.Thr3811Ile)
c.5321C>T (p.Thr1774Ile)
c.11468C>T (p.Thr3823Ile)
c.5078C>T (p.Thr1693Ile)
c.11270C>T (p.Thr3757Ile)
c.5150C>T (p.Thr1717Ile)
c.4694C>T (p.Thr1565Ile)
c.2825C>T (p.Thr942Ile)
c.11246C>T (p.Thr3749Ile)
c.2804C>T (p.Thr935Ile)
c.11477C>T (p.Thr3826Ile)
c.5042C>T (p.Thr1681Ile)
c.4784C>T (p.Thr1595Ile)
c.11306C>T (p.Thr3769Ile)
c.5276C>T (p.Thr1759Ile)
c.2561C>T (p.Thr854Ile)
c.1232C>T (p.Thr411Ile)
c.2280C>T
c.*2892C>T (n.*2892C>T)
c.11564C>T (p.Thr3855Ile)
c.5273C>T (p.Thr1758Ile)
c.11618C>T (p.Thr3873Ile)
c.11582C>T (p.Thr3861Ile)
c.5330C>T (p.Thr1777Ile)
c.5363C>T (p.Thr1788Ile)
c.5294C>T (p.Thr1765Ile)
c.11558C>T (p.Thr3853Ile)
c.11603C>T (p.Thr3868Ile)
c.5288C>T (p.Thr1763Ile)
c.5255C>T (p.Thr1752Ile)
c.5318C>T (p.Thr1773Ile)
c.5174C>T (p.Thr1725Ile)
c.5354C>T (p.Thr1785Ile)
c.5246C>T (p.Thr1749Ile)
c.5210C>T (p.Thr1737Ile)
c.5225C>T (p.Thr1742Ile)
c.5135C>T (p.Thr1712Ile)
c.5063C>T (p.Thr1688Ile)
c.5147C>T (p.Thr1716Ile)
c.4976C>T (p.Thr1659Ile)
c.11648C>T (p.Thr3883Ile)
c.11534C>T (p.Thr3845Ile)
c.11504C>T (p.Thr3835Ile)
c.11567C>T (p.Thr3856Ile)
c.11297C>T (p.Thr3766Ile)
c.5057C>T (p.Thr1686Ile)
c.5102C>T (p.Thr1701Ile)
c.5261C>T (p.Thr1754Ile)
c.5333C>T (p.Thr1778Ile)
c.4793C>T (p.Thr1598Ile)
c.5120C>T (p.Thr1707Ile)
c.7931C>T (p.Thr2644Ile)
c.1676C>T (p.Thr559Ile)
c.5141C>T (p.Thr1714Ile)
dbSNP
4g.113369727C>ACA440836558ANK2c.11673C>A (p.Thr3891=)
c.5358C>A (p.Thr1786=)
c.1959C>A (p.Thr653=)
c.2457C>A (p.Thr819=)
n.2914C>A
n.2122C>A
n.2866C>A
n.1695C>A
n.3657C>A
n.1638C>A
n.2031C>A
n.8377C>A
n.3003C>A
n.26C>A
n.987C>A
n.3421C>A
n.1636C>A
c.11532C>A (p.Thr3844=)
c.11370C>A (p.Thr3790=)
c.2664C>A (p.Thr888=)
c.987C>A (p.Thr329=)
c.5091C>A (p.Thr1697=)
c.5178C>A (p.Thr1726=)
c.5115C>A (p.Thr1705=)
c.5313C>A (p.Thr1771=)
c.5214C>A (p.Thr1738=)
c.11406C>A (p.Thr3802=)
c.5016C>A (p.Thr1672=)
c.*770C>A (n.*770C>A)
c.11349C>A (p.Thr3783=)
c.4893C>A (p.Thr1631=)
c.11346C>A (p.Thr3782=)
c.4992C>A (p.Thr1664=)
c.11577C>A (p.Thr3859=)
c.5127C>A (p.Thr1709=)
c.5112C>A (p.Thr1704=)
c.11613C>A (p.Thr3871=)
c.5100C>A (p.Thr1700=)
c.11334C>A (p.Thr3778=)
c.5052C>A (p.Thr1684=)
c.5250C>A (p.Thr1750=)
c.2841C>A (p.Thr947=)
c.11433C>A (p.Thr3811=)
c.5322C>A (p.Thr1774=)
c.11469C>A (p.Thr3823=)
c.5079C>A (p.Thr1693=)
c.11271C>A (p.Thr3757=)
c.5151C>A (p.Thr1717=)
c.4695C>A (p.Thr1565=)
c.2826C>A (p.Thr942=)
c.11247C>A (p.Thr3749=)
c.2805C>A (p.Thr935=)
c.11478C>A (p.Thr3826=)
c.5043C>A (p.Thr1681=)
c.4785C>A (p.Thr1595=)
c.11307C>A (p.Thr3769=)
c.5277C>A (p.Thr1759=)
c.2562C>A (p.Thr854=)
c.1233C>A (p.Thr411=)
c.2281C>A
c.*2893C>A (n.*2893C>A)
c.11565C>A (p.Thr3855=)
c.5274C>A (p.Thr1758=)
c.11619C>A (p.Thr3873=)
c.11583C>A (p.Thr3861=)
c.5331C>A (p.Thr1777=)
c.5364C>A (p.Thr1788=)
c.5295C>A (p.Thr1765=)
c.11559C>A (p.Thr3853=)
c.11604C>A (p.Thr3868=)
c.5289C>A (p.Thr1763=)
c.5256C>A (p.Thr1752=)
c.5319C>A (p.Thr1773=)
c.5175C>A (p.Thr1725=)
c.5355C>A (p.Thr1785=)
c.5247C>A (p.Thr1749=)
c.5211C>A (p.Thr1737=)
c.5226C>A (p.Thr1742=)
c.5136C>A (p.Thr1712=)
c.5064C>A (p.Thr1688=)
c.5148C>A (p.Thr1716=)
c.4977C>A (p.Thr1659=)
c.11649C>A (p.Thr3883=)
c.11535C>A (p.Thr3845=)
c.11505C>A (p.Thr3835=)
c.11568C>A (p.Thr3856=)
c.11298C>A (p.Thr3766=)
c.5058C>A (p.Thr1686=)
c.5103C>A (p.Thr1701=)
c.5262C>A (p.Thr1754=)
c.5334C>A (p.Thr1778=)
c.4794C>A (p.Thr1598=)
c.5121C>A (p.Thr1707=)
c.7932C>A (p.Thr2644=)
c.1677C>A (p.Thr559=)
c.5142C>A (p.Thr1714=)
dbSNP
4g.113369727C>GCA440836560ANK2c.11673C>G (p.Thr3891=)
c.5358C>G (p.Thr1786=)
c.1959C>G (p.Thr653=)
c.2457C>G (p.Thr819=)
n.2914C>G
n.2122C>G
n.2866C>G
n.1695C>G
n.3657C>G
n.1638C>G
n.2031C>G
n.8377C>G
n.3003C>G
n.26C>G
n.987C>G
n.3421C>G
n.1636C>G
c.11532C>G (p.Thr3844=)
c.11370C>G (p.Thr3790=)
c.2664C>G (p.Thr888=)
c.987C>G (p.Thr329=)
c.5091C>G (p.Thr1697=)
c.5178C>G (p.Thr1726=)
c.5115C>G (p.Thr1705=)
c.5313C>G (p.Thr1771=)
c.5214C>G (p.Thr1738=)
c.11406C>G (p.Thr3802=)
c.5016C>G (p.Thr1672=)
c.*770C>G (n.*770C>G)
c.11349C>G (p.Thr3783=)
c.4893C>G (p.Thr1631=)
c.11346C>G (p.Thr3782=)
c.4992C>G (p.Thr1664=)
c.11577C>G (p.Thr3859=)
c.5127C>G (p.Thr1709=)
c.5112C>G (p.Thr1704=)
c.11613C>G (p.Thr3871=)
c.5100C>G (p.Thr1700=)
c.11334C>G (p.Thr3778=)
c.5052C>G (p.Thr1684=)
c.5250C>G (p.Thr1750=)
c.2841C>G (p.Thr947=)
c.11433C>G (p.Thr3811=)
c.5322C>G (p.Thr1774=)
c.11469C>G (p.Thr3823=)
c.5079C>G (p.Thr1693=)
c.11271C>G (p.Thr3757=)
c.5151C>G (p.Thr1717=)
c.4695C>G (p.Thr1565=)
c.2826C>G (p.Thr942=)
c.11247C>G (p.Thr3749=)
c.2805C>G (p.Thr935=)
c.11478C>G (p.Thr3826=)
c.5043C>G (p.Thr1681=)
c.4785C>G (p.Thr1595=)
c.11307C>G (p.Thr3769=)
c.5277C>G (p.Thr1759=)
c.2562C>G (p.Thr854=)
c.1233C>G (p.Thr411=)
c.2281C>G
c.*2893C>G (n.*2893C>G)
c.11565C>G (p.Thr3855=)
c.5274C>G (p.Thr1758=)
c.11619C>G (p.Thr3873=)
c.11583C>G (p.Thr3861=)
c.5331C>G (p.Thr1777=)
c.5364C>G (p.Thr1788=)
c.5295C>G (p.Thr1765=)
c.11559C>G (p.Thr3853=)
c.11604C>G (p.Thr3868=)
c.5289C>G (p.Thr1763=)
c.5256C>G (p.Thr1752=)
c.5319C>G (p.Thr1773=)
c.5175C>G (p.Thr1725=)
c.5355C>G (p.Thr1785=)
c.5247C>G (p.Thr1749=)
c.5211C>G (p.Thr1737=)
c.5226C>G (p.Thr1742=)
c.5136C>G (p.Thr1712=)
c.5064C>G (p.Thr1688=)
c.5148C>G (p.Thr1716=)
c.4977C>G (p.Thr1659=)
c.11649C>G (p.Thr3883=)
c.11535C>G (p.Thr3845=)
c.11505C>G (p.Thr3835=)
c.11568C>G (p.Thr3856=)
c.11298C>G (p.Thr3766=)
c.5058C>G (p.Thr1686=)
c.5103C>G (p.Thr1701=)
c.5262C>G (p.Thr1754=)
c.5334C>G (p.Thr1778=)
c.4794C>G (p.Thr1598=)
c.5121C>G (p.Thr1707=)
c.7932C>G (p.Thr2644=)
c.1677C>G (p.Thr559=)
c.5142C>G (p.Thr1714=)
dbSNP

Number of alleles fetched