Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.113369711G>A | CA357942885 | ANK2 | c.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 |
4 | g.113369711G>C | CA329735 | ANK2 | c.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 |
4 | g.113369711G>T | CA357942886 | ANK2 | c.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) | |
4 | g.113369712C>A | CA357942887 | ANK2 | c.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 |
4 | g.113369712C>G | CA357942888 | ANK2 | c.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 |
4 | g.113369712C>T | CA440835922 | ANK2 | c.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 |
4 | g.113369713T>A | CA357942890 | ANK2 | c.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 |
4 | g.113369713T>C | CA357942891 | ANK2 | c.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 |
4 | g.113369713T>G | CA357942889 | ANK2 | c.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 |
4 | g.113369714C>A | CA357942892 | ANK2 | c.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 |
4 | g.113369714C>G | CA357942894 | ANK2 | c.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 |
4 | g.113369714C>T | CA357942895 | ANK2 | c.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 |
4 | g.113369715T>A | CA440835934 | ANK2 | c.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=) | |
4 | g.113369715T>C | CA440835937 | ANK2 | c.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 |
4 | g.113369715T>G | CA440835939 | ANK2 | c.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=) | |
4 | g.113369716C>A | CA357942897 | ANK2 | c.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 |
4 | g.113369716C>G | CA357942898 | ANK2 | c.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) | |
4 | g.113369716C>T | CA357942899 | ANK2 | c.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 |
4 | g.113369717C>A | CA357942900 | ANK2 | c.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 |
4 | g.113369717C>G | CA357942901 | ANK2 | c.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 |
4 | g.113369717C>T | CA3052299 | ANK2 | c.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 |
4 | g.113369718G>A | CA3052300 | ANK2 | c.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 |
4 | g.113369718G>C | CA440835954 | ANK2 | c.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 |
4 | g.113369718G>T | CA440835958 | ANK2 | c.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 |
4 | g.113369719C>A | CA440835963 | ANK2 | c.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 |
4 | g.113369719C>G | CA357942902 | ANK2 | c.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) | |
4 | g.113369719C>T | CA300739 | ANK2 | c.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 |
4 | g.113369720G>A | CA3052301 | ANK2 | c.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 |
4 | g.113369720G>C | CA357942904 | ANK2 | c.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) | |
4 | g.113369720G>T | CA357942903 | ANK2 | c.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 |
4 | g.113369721G>A | CA440836526 | ANK2 | c.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=) | |
4 | g.113369721G>C | CA440836527 | ANK2 | c.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=) | |
4 | g.113369721G>T | CA440836529 | ANK2 | c.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=) | |
4 | g.113369722A>C | CA357942905 | ANK2 | c.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 |
4 | g.113369722A>G | CA357942906 | ANK2 | c.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) | |
4 | g.113369722A>T | CA357942907 | ANK2 | c.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 |
4 | g.113369723A>C | CA357942908 | ANK2 | c.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 |
4 | g.113369723A>G | CA357942909 | ANK2 | c.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 |
4 | g.113369723A>T | CA357942910 | ANK2 | c.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 |
4 | g.113369724A>C | CA357942912 | ANK2 | c.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 |
4 | g.113369724A>G | CA440836541 | ANK2 | c.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 |
4 | g.113369724A>T | CA357942911 | ANK2 | c.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 |
4 | g.113369725A>C | CA357942913 | ANK2 | c.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 |
4 | g.113369725A>G | CA357942914 | ANK2 | c.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) | |
4 | g.113369725A>T | CA357942915 | ANK2 | c.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) | |
4 | g.113369726C>A | CA329740 | ANK2 | c.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 |
4 | g.113369726C>G | CA357942916 | ANK2 | c.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 |
4 | g.113369726C>T | CA357942917 | ANK2 | c.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 |
4 | g.113369727C>A | CA440836558 | ANK2 | c.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 |
4 | g.113369727C>G | CA440836560 | ANK2 | c.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 |