Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |