Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.113369611G>A | CA357942670 | ANK2 | c.11557G>A (p.Glu3853Lys) c.5242G>A (p.Glu1748Lys) c.1843G>A (p.Glu615Lys) c.2341G>A (p.Glu781Lys) n.2798G>A n.2006G>A n.2750G>A n.1579G>A n.3541G>A n.1522G>A n.1915G>A n.8261G>A n.2887G>A n.871G>A n.3305G>A n.1520G>A c.11416G>A (p.Glu3806Lys) c.11254G>A (p.Glu3752Lys) c.2548G>A (p.Glu850Lys) c.871G>A (p.Glu291Lys) c.4975G>A (p.Glu1659Lys) c.5062G>A (p.Glu1688Lys) c.4999G>A (p.Glu1667Lys) c.5197G>A (p.Glu1733Lys) c.5098G>A (p.Glu1700Lys) c.11290G>A (p.Glu3764Lys) c.4900G>A (p.Glu1634Lys) c.*654G>A (n.*654G>A) c.11233G>A (p.Glu3745Lys) c.4777G>A (p.Glu1593Lys) c.11230G>A (p.Glu3744Lys) c.4876G>A (p.Glu1626Lys) c.11461G>A (p.Glu3821Lys) c.5011G>A (p.Glu1671Lys) c.4996G>A (p.Glu1666Lys) c.11497G>A (p.Glu3833Lys) c.4984G>A (p.Glu1662Lys) c.11218G>A (p.Glu3740Lys) c.4936G>A (p.Glu1646Lys) c.5134G>A (p.Glu1712Lys) c.2725G>A (p.Glu909Lys) c.11317G>A (p.Glu3773Lys) c.5206G>A (p.Glu1736Lys) c.11353G>A (p.Glu3785Lys) c.4963G>A (p.Glu1655Lys) c.11155G>A (p.Glu3719Lys) c.5035G>A (p.Glu1679Lys) c.4579G>A (p.Glu1527Lys) c.2710G>A (p.Glu904Lys) c.11131G>A (p.Glu3711Lys) c.2689G>A (p.Glu897Lys) c.11362G>A (p.Glu3788Lys) c.4927G>A (p.Glu1643Lys) c.4669G>A (p.Glu1557Lys) c.11191G>A (p.Glu3731Lys) c.5161G>A (p.Glu1721Lys) c.2446G>A (p.Glu816Lys) c.1117G>A (p.Glu373Lys) c.2165G>A c.*2777G>A (n.*2777G>A) c.11449G>A (p.Glu3817Lys) c.5158G>A (p.Glu1720Lys) c.11503G>A (p.Glu3835Lys) c.11467G>A (p.Glu3823Lys) c.5215G>A (p.Glu1739Lys) c.5248G>A (p.Glu1750Lys) c.5179G>A (p.Glu1727Lys) c.11443G>A (p.Glu3815Lys) c.11488G>A (p.Glu3830Lys) c.5173G>A (p.Glu1725Lys) c.5140G>A (p.Glu1714Lys) c.5203G>A (p.Glu1735Lys) c.5059G>A (p.Glu1687Lys) c.5239G>A (p.Glu1747Lys) c.5131G>A (p.Glu1711Lys) c.5095G>A (p.Glu1699Lys) c.5110G>A (p.Glu1704Lys) c.5020G>A (p.Glu1674Lys) c.4948G>A (p.Glu1650Lys) c.5032G>A (p.Glu1678Lys) c.4861G>A (p.Glu1621Lys) c.11533G>A (p.Glu3845Lys) c.11419G>A (p.Glu3807Lys) c.11389G>A (p.Glu3797Lys) c.11452G>A (p.Glu3818Lys) c.11182G>A (p.Glu3728Lys) c.4942G>A (p.Glu1648Lys) c.4987G>A (p.Glu1663Lys) c.5146G>A (p.Glu1716Lys) c.5218G>A (p.Glu1740Lys) c.4678G>A (p.Glu1560Lys) c.5005G>A (p.Glu1669Lys) c.7816G>A (p.Glu2606Lys) c.1561G>A (p.Glu521Lys) c.5026G>A (p.Glu1676Lys) | dbSNP |
4 | g.113369611G>C | CA357942668 | ANK2 | c.11557G>C (p.Glu3853Gln) c.5242G>C (p.Glu1748Gln) c.1843G>C (p.Glu615Gln) c.2341G>C (p.Glu781Gln) n.2798G>C n.2006G>C n.2750G>C n.1579G>C n.3541G>C n.1522G>C n.1915G>C n.8261G>C n.2887G>C n.871G>C n.3305G>C n.1520G>C c.11416G>C (p.Glu3806Gln) c.11254G>C (p.Glu3752Gln) c.2548G>C (p.Glu850Gln) c.871G>C (p.Glu291Gln) c.4975G>C (p.Glu1659Gln) c.5062G>C (p.Glu1688Gln) c.4999G>C (p.Glu1667Gln) c.5197G>C (p.Glu1733Gln) c.5098G>C (p.Glu1700Gln) c.11290G>C (p.Glu3764Gln) c.4900G>C (p.Glu1634Gln) c.*654G>C (n.*654G>C) c.11233G>C (p.Glu3745Gln) c.4777G>C (p.Glu1593Gln) c.11230G>C (p.Glu3744Gln) c.4876G>C (p.Glu1626Gln) c.11461G>C (p.Glu3821Gln) c.5011G>C (p.Glu1671Gln) c.4996G>C (p.Glu1666Gln) c.11497G>C (p.Glu3833Gln) c.4984G>C (p.Glu1662Gln) c.11218G>C (p.Glu3740Gln) c.4936G>C (p.Glu1646Gln) c.5134G>C (p.Glu1712Gln) c.2725G>C (p.Glu909Gln) c.11317G>C (p.Glu3773Gln) c.5206G>C (p.Glu1736Gln) c.11353G>C (p.Glu3785Gln) c.4963G>C (p.Glu1655Gln) c.11155G>C (p.Glu3719Gln) c.5035G>C (p.Glu1679Gln) c.4579G>C (p.Glu1527Gln) c.2710G>C (p.Glu904Gln) c.11131G>C (p.Glu3711Gln) c.2689G>C (p.Glu897Gln) c.11362G>C (p.Glu3788Gln) c.4927G>C (p.Glu1643Gln) c.4669G>C (p.Glu1557Gln) c.11191G>C (p.Glu3731Gln) c.5161G>C (p.Glu1721Gln) c.2446G>C (p.Glu816Gln) c.1117G>C (p.Glu373Gln) c.2165G>C c.*2777G>C (n.*2777G>C) c.11449G>C (p.Glu3817Gln) c.5158G>C (p.Glu1720Gln) c.11503G>C (p.Glu3835Gln) c.11467G>C (p.Glu3823Gln) c.5215G>C (p.Glu1739Gln) c.5248G>C (p.Glu1750Gln) c.5179G>C (p.Glu1727Gln) c.11443G>C (p.Glu3815Gln) c.11488G>C (p.Glu3830Gln) c.5173G>C (p.Glu1725Gln) c.5140G>C (p.Glu1714Gln) c.5203G>C (p.Glu1735Gln) c.5059G>C (p.Glu1687Gln) c.5239G>C (p.Glu1747Gln) c.5131G>C (p.Glu1711Gln) c.5095G>C (p.Glu1699Gln) c.5110G>C (p.Glu1704Gln) c.5020G>C (p.Glu1674Gln) c.4948G>C (p.Glu1650Gln) c.5032G>C (p.Glu1678Gln) c.4861G>C (p.Glu1621Gln) c.11533G>C (p.Glu3845Gln) c.11419G>C (p.Glu3807Gln) c.11389G>C (p.Glu3797Gln) c.11452G>C (p.Glu3818Gln) c.11182G>C (p.Glu3728Gln) c.4942G>C (p.Glu1648Gln) c.4987G>C (p.Glu1663Gln) c.5146G>C (p.Glu1716Gln) c.5218G>C (p.Glu1740Gln) c.4678G>C (p.Glu1560Gln) c.5005G>C (p.Glu1669Gln) c.7816G>C (p.Glu2606Gln) c.1561G>C (p.Glu521Gln) c.5026G>C (p.Glu1676Gln) | dbSNP |
4 | g.113369611G>T | CA357942669 | ANK2 | c.11557G>T (p.Glu3853Ter) c.5242G>T (p.Glu1748Ter) c.1843G>T (p.Glu615Ter) c.2341G>T (p.Glu781Ter) n.2798G>T n.2006G>T n.2750G>T n.1579G>T n.3541G>T n.1522G>T n.1915G>T n.8261G>T n.2887G>T n.871G>T n.3305G>T n.1520G>T c.11416G>T (p.Glu3806Ter) c.11254G>T (p.Glu3752Ter) c.2548G>T (p.Glu850Ter) c.871G>T (p.Glu291Ter) c.4975G>T (p.Glu1659Ter) c.5062G>T (p.Glu1688Ter) c.4999G>T (p.Glu1667Ter) c.5197G>T (p.Glu1733Ter) c.5098G>T (p.Glu1700Ter) c.11290G>T (p.Glu3764Ter) c.4900G>T (p.Glu1634Ter) c.*654G>T (n.*654G>T) c.11233G>T (p.Glu3745Ter) c.4777G>T (p.Glu1593Ter) c.11230G>T (p.Glu3744Ter) c.4876G>T (p.Glu1626Ter) c.11461G>T (p.Glu3821Ter) c.5011G>T (p.Glu1671Ter) c.4996G>T (p.Glu1666Ter) c.11497G>T (p.Glu3833Ter) c.4984G>T (p.Glu1662Ter) c.11218G>T (p.Glu3740Ter) c.4936G>T (p.Glu1646Ter) c.5134G>T (p.Glu1712Ter) c.2725G>T (p.Glu909Ter) c.11317G>T (p.Glu3773Ter) c.5206G>T (p.Glu1736Ter) c.11353G>T (p.Glu3785Ter) c.4963G>T (p.Glu1655Ter) c.11155G>T (p.Glu3719Ter) c.5035G>T (p.Glu1679Ter) c.4579G>T (p.Glu1527Ter) c.2710G>T (p.Glu904Ter) c.11131G>T (p.Glu3711Ter) c.2689G>T (p.Glu897Ter) c.11362G>T (p.Glu3788Ter) c.4927G>T (p.Glu1643Ter) c.4669G>T (p.Glu1557Ter) c.11191G>T (p.Glu3731Ter) c.5161G>T (p.Glu1721Ter) c.2446G>T (p.Glu816Ter) c.1117G>T (p.Glu373Ter) c.2165G>T c.*2777G>T (n.*2777G>T) c.11449G>T (p.Glu3817Ter) c.5158G>T (p.Glu1720Ter) c.11503G>T (p.Glu3835Ter) c.11467G>T (p.Glu3823Ter) c.5215G>T (p.Glu1739Ter) c.5248G>T (p.Glu1750Ter) c.5179G>T (p.Glu1727Ter) c.11443G>T (p.Glu3815Ter) c.11488G>T (p.Glu3830Ter) c.5173G>T (p.Glu1725Ter) c.5140G>T (p.Glu1714Ter) c.5203G>T (p.Glu1735Ter) c.5059G>T (p.Glu1687Ter) c.5239G>T (p.Glu1747Ter) c.5131G>T (p.Glu1711Ter) c.5095G>T (p.Glu1699Ter) c.5110G>T (p.Glu1704Ter) c.5020G>T (p.Glu1674Ter) c.4948G>T (p.Glu1650Ter) c.5032G>T (p.Glu1678Ter) c.4861G>T (p.Glu1621Ter) c.11533G>T (p.Glu3845Ter) c.11419G>T (p.Glu3807Ter) c.11389G>T (p.Glu3797Ter) c.11452G>T (p.Glu3818Ter) c.11182G>T (p.Glu3728Ter) c.4942G>T (p.Glu1648Ter) c.4987G>T (p.Glu1663Ter) c.5146G>T (p.Glu1716Ter) c.5218G>T (p.Glu1740Ter) c.4678G>T (p.Glu1560Ter) c.5005G>T (p.Glu1669Ter) c.7816G>T (p.Glu2606Ter) c.1561G>T (p.Glu521Ter) c.5026G>T (p.Glu1676Ter) | |
4 | g.113369617_113369619del | CA2671803145 | ANK2 | c.11563_11565del (p.Glu3855del) c.5248_5250del (p.Glu1750del) c.1849_1851del (p.Glu617del) c.2347_2349del (p.Glu783del) n.2804_2806del n.2012_2014del n.2756_2758del n.1585_1587del n.3547_3549del n.1528_1530del n.1921_1923del n.8267_8269del n.2893_2895del n.877_879del n.3311_3313del n.1526_1528del c.11422_11424del (p.Glu3808del) c.11260_11262del (p.Glu3754del) c.2554_2556del (p.Glu852del) c.877_879del (p.Glu293del) c.4981_4983del (p.Glu1661del) c.5068_5070del (p.Glu1690del) c.5005_5007del (p.Glu1669del) c.5203_5205del (p.Glu1735del) c.5104_5106del (p.Glu1702del) c.11296_11298del (p.Glu3766del) c.4906_4908del (p.Glu1636del) c.*660_*662del (n.*660_*662del) c.11239_11241del (p.Glu3747del) c.4783_4785del (p.Glu1595del) c.11236_11238del (p.Glu3746del) c.4882_4884del (p.Glu1628del) c.11467_11469del (p.Glu3823del) c.5017_5019del (p.Glu1673del) c.5002_5004del (p.Glu1668del) c.11503_11505del (p.Glu3835del) c.4990_4992del (p.Glu1664del) c.11224_11226del (p.Glu3742del) c.4942_4944del (p.Glu1648del) c.5140_5142del (p.Glu1714del) c.2731_2733del (p.Glu911del) c.11323_11325del (p.Glu3775del) c.5212_5214del (p.Glu1738del) c.11359_11361del (p.Glu3787del) c.4969_4971del (p.Glu1657del) c.11161_11163del (p.Glu3721del) c.5041_5043del (p.Glu1681del) c.4585_4587del (p.Glu1529del) c.2716_2718del (p.Glu906del) c.11137_11139del (p.Glu3713del) c.2695_2697del (p.Glu899del) c.11368_11370del (p.Glu3790del) c.4933_4935del (p.Glu1645del) c.4675_4677del (p.Glu1559del) c.11197_11199del (p.Glu3733del) c.5167_5169del (p.Glu1723del) c.2452_2454del (p.Glu818del) c.1123_1125del (p.Glu375del) c.2171_2173del c.*2783_*2785del (n.*2783_*2785del) c.11455_11457del (p.Glu3819del) c.5164_5166del (p.Glu1722del) c.11509_11511del (p.Glu3837del) c.11473_11475del (p.Glu3825del) c.5221_5223del (p.Glu1741del) c.5254_5256del (p.Glu1752del) c.5185_5187del (p.Glu1729del) c.11449_11451del (p.Glu3817del) c.11494_11496del (p.Glu3832del) c.5179_5181del (p.Glu1727del) c.5146_5148del (p.Glu1716del) c.5209_5211del (p.Glu1737del) c.5065_5067del (p.Glu1689del) c.5245_5247del (p.Glu1749del) c.5137_5139del (p.Glu1713del) c.5101_5103del (p.Glu1701del) c.5116_5118del (p.Glu1706del) c.5026_5028del (p.Glu1676del) c.4954_4956del (p.Glu1652del) c.5038_5040del (p.Glu1680del) c.4867_4869del (p.Glu1623del) c.11539_11541del (p.Glu3847del) c.11425_11427del (p.Glu3809del) c.11395_11397del (p.Glu3799del) c.11458_11460del (p.Glu3820del) c.11188_11190del (p.Glu3730del) c.4948_4950del (p.Glu1650del) c.4993_4995del (p.Glu1665del) c.5152_5154del (p.Glu1718del) c.5224_5226del (p.Glu1742del) c.4684_4686del (p.Glu1562del) c.5011_5013del (p.Glu1671del) c.7822_7824del (p.Glu2608del) c.1567_1569del (p.Glu523del) c.5032_5034del (p.Glu1678del) | gnomAD v4 |
4 | g.113369612A>C | CA357942671 | ANK2 | c.11558A>C (p.Glu3853Ala) c.5243A>C (p.Glu1748Ala) c.1844A>C (p.Glu615Ala) c.2342A>C (p.Glu781Ala) n.2799A>C n.2007A>C n.2751A>C n.1580A>C n.3542A>C n.1523A>C n.1916A>C n.8262A>C n.2888A>C n.872A>C n.3306A>C n.1521A>C c.11417A>C (p.Glu3806Ala) c.11255A>C (p.Glu3752Ala) c.2549A>C (p.Glu850Ala) c.872A>C (p.Glu291Ala) c.4976A>C (p.Glu1659Ala) c.5063A>C (p.Glu1688Ala) c.5000A>C (p.Glu1667Ala) c.5198A>C (p.Glu1733Ala) c.5099A>C (p.Glu1700Ala) c.11291A>C (p.Glu3764Ala) c.4901A>C (p.Glu1634Ala) c.*655A>C (n.*655A>C) c.11234A>C (p.Glu3745Ala) c.4778A>C (p.Glu1593Ala) c.11231A>C (p.Glu3744Ala) c.4877A>C (p.Glu1626Ala) c.11462A>C (p.Glu3821Ala) c.5012A>C (p.Glu1671Ala) c.4997A>C (p.Glu1666Ala) c.11498A>C (p.Glu3833Ala) c.4985A>C (p.Glu1662Ala) c.11219A>C (p.Glu3740Ala) c.4937A>C (p.Glu1646Ala) c.5135A>C (p.Glu1712Ala) c.2726A>C (p.Glu909Ala) c.11318A>C (p.Glu3773Ala) c.5207A>C (p.Glu1736Ala) c.11354A>C (p.Glu3785Ala) c.4964A>C (p.Glu1655Ala) c.11156A>C (p.Glu3719Ala) c.5036A>C (p.Glu1679Ala) c.4580A>C (p.Glu1527Ala) c.2711A>C (p.Glu904Ala) c.11132A>C (p.Glu3711Ala) c.2690A>C (p.Glu897Ala) c.11363A>C (p.Glu3788Ala) c.4928A>C (p.Glu1643Ala) c.4670A>C (p.Glu1557Ala) c.11192A>C (p.Glu3731Ala) c.5162A>C (p.Glu1721Ala) c.2447A>C (p.Glu816Ala) c.1118A>C (p.Glu373Ala) c.2166A>C c.*2778A>C (n.*2778A>C) c.11450A>C (p.Glu3817Ala) c.5159A>C (p.Glu1720Ala) c.11504A>C (p.Glu3835Ala) c.11468A>C (p.Glu3823Ala) c.5216A>C (p.Glu1739Ala) c.5249A>C (p.Glu1750Ala) c.5180A>C (p.Glu1727Ala) c.11444A>C (p.Glu3815Ala) c.11489A>C (p.Glu3830Ala) c.5174A>C (p.Glu1725Ala) c.5141A>C (p.Glu1714Ala) c.5204A>C (p.Glu1735Ala) c.5060A>C (p.Glu1687Ala) c.5240A>C (p.Glu1747Ala) c.5132A>C (p.Glu1711Ala) c.5096A>C (p.Glu1699Ala) c.5111A>C (p.Glu1704Ala) c.5021A>C (p.Glu1674Ala) c.4949A>C (p.Glu1650Ala) c.5033A>C (p.Glu1678Ala) c.4862A>C (p.Glu1621Ala) c.11534A>C (p.Glu3845Ala) c.11420A>C (p.Glu3807Ala) c.11390A>C (p.Glu3797Ala) c.11453A>C (p.Glu3818Ala) c.11183A>C (p.Glu3728Ala) c.4943A>C (p.Glu1648Ala) c.4988A>C (p.Glu1663Ala) c.5147A>C (p.Glu1716Ala) c.5219A>C (p.Glu1740Ala) c.4679A>C (p.Glu1560Ala) c.5006A>C (p.Glu1669Ala) c.7817A>C (p.Glu2606Ala) c.1562A>C (p.Glu521Ala) c.5027A>C (p.Glu1676Ala) | |
4 | g.113369612A>G | CA357942672 | ANK2 | c.11558A>G (p.Glu3853Gly) c.5243A>G (p.Glu1748Gly) c.1844A>G (p.Glu615Gly) c.2342A>G (p.Glu781Gly) n.2799A>G n.2007A>G n.2751A>G n.1580A>G n.3542A>G n.1523A>G n.1916A>G n.8262A>G n.2888A>G n.872A>G n.3306A>G n.1521A>G c.11417A>G (p.Glu3806Gly) c.11255A>G (p.Glu3752Gly) c.2549A>G (p.Glu850Gly) c.872A>G (p.Glu291Gly) c.4976A>G (p.Glu1659Gly) c.5063A>G (p.Glu1688Gly) c.5000A>G (p.Glu1667Gly) c.5198A>G (p.Glu1733Gly) c.5099A>G (p.Glu1700Gly) c.11291A>G (p.Glu3764Gly) c.4901A>G (p.Glu1634Gly) c.*655A>G (n.*655A>G) c.11234A>G (p.Glu3745Gly) c.4778A>G (p.Glu1593Gly) c.11231A>G (p.Glu3744Gly) c.4877A>G (p.Glu1626Gly) c.11462A>G (p.Glu3821Gly) c.5012A>G (p.Glu1671Gly) c.4997A>G (p.Glu1666Gly) c.11498A>G (p.Glu3833Gly) c.4985A>G (p.Glu1662Gly) c.11219A>G (p.Glu3740Gly) c.4937A>G (p.Glu1646Gly) c.5135A>G (p.Glu1712Gly) c.2726A>G (p.Glu909Gly) c.11318A>G (p.Glu3773Gly) c.5207A>G (p.Glu1736Gly) c.11354A>G (p.Glu3785Gly) c.4964A>G (p.Glu1655Gly) c.11156A>G (p.Glu3719Gly) c.5036A>G (p.Glu1679Gly) c.4580A>G (p.Glu1527Gly) c.2711A>G (p.Glu904Gly) c.11132A>G (p.Glu3711Gly) c.2690A>G (p.Glu897Gly) c.11363A>G (p.Glu3788Gly) c.4928A>G (p.Glu1643Gly) c.4670A>G (p.Glu1557Gly) c.11192A>G (p.Glu3731Gly) c.5162A>G (p.Glu1721Gly) c.2447A>G (p.Glu816Gly) c.1118A>G (p.Glu373Gly) c.2166A>G c.*2778A>G (n.*2778A>G) c.11450A>G (p.Glu3817Gly) c.5159A>G (p.Glu1720Gly) c.11504A>G (p.Glu3835Gly) c.11468A>G (p.Glu3823Gly) c.5216A>G (p.Glu1739Gly) c.5249A>G (p.Glu1750Gly) c.5180A>G (p.Glu1727Gly) c.11444A>G (p.Glu3815Gly) c.11489A>G (p.Glu3830Gly) c.5174A>G (p.Glu1725Gly) c.5141A>G (p.Glu1714Gly) c.5204A>G (p.Glu1735Gly) c.5060A>G (p.Glu1687Gly) c.5240A>G (p.Glu1747Gly) c.5132A>G (p.Glu1711Gly) c.5096A>G (p.Glu1699Gly) c.5111A>G (p.Glu1704Gly) c.5021A>G (p.Glu1674Gly) c.4949A>G (p.Glu1650Gly) c.5033A>G (p.Glu1678Gly) c.4862A>G (p.Glu1621Gly) c.11534A>G (p.Glu3845Gly) c.11420A>G (p.Glu3807Gly) c.11390A>G (p.Glu3797Gly) c.11453A>G (p.Glu3818Gly) c.11183A>G (p.Glu3728Gly) c.4943A>G (p.Glu1648Gly) c.4988A>G (p.Glu1663Gly) c.5147A>G (p.Glu1716Gly) c.5219A>G (p.Glu1740Gly) c.4679A>G (p.Glu1560Gly) c.5006A>G (p.Glu1669Gly) c.7817A>G (p.Glu2606Gly) c.1562A>G (p.Glu521Gly) c.5027A>G (p.Glu1676Gly) | |
4 | g.113369612A>T | CA357942673 | ANK2 | c.11558A>T (p.Glu3853Val) c.5243A>T (p.Glu1748Val) c.1844A>T (p.Glu615Val) c.2342A>T (p.Glu781Val) n.2799A>T n.2007A>T n.2751A>T n.1580A>T n.3542A>T n.1523A>T n.1916A>T n.8262A>T n.2888A>T n.872A>T n.3306A>T n.1521A>T c.11417A>T (p.Glu3806Val) c.11255A>T (p.Glu3752Val) c.2549A>T (p.Glu850Val) c.872A>T (p.Glu291Val) c.4976A>T (p.Glu1659Val) c.5063A>T (p.Glu1688Val) c.5000A>T (p.Glu1667Val) c.5198A>T (p.Glu1733Val) c.5099A>T (p.Glu1700Val) c.11291A>T (p.Glu3764Val) c.4901A>T (p.Glu1634Val) c.*655A>T (n.*655A>T) c.11234A>T (p.Glu3745Val) c.4778A>T (p.Glu1593Val) c.11231A>T (p.Glu3744Val) c.4877A>T (p.Glu1626Val) c.11462A>T (p.Glu3821Val) c.5012A>T (p.Glu1671Val) c.4997A>T (p.Glu1666Val) c.11498A>T (p.Glu3833Val) c.4985A>T (p.Glu1662Val) c.11219A>T (p.Glu3740Val) c.4937A>T (p.Glu1646Val) c.5135A>T (p.Glu1712Val) c.2726A>T (p.Glu909Val) c.11318A>T (p.Glu3773Val) c.5207A>T (p.Glu1736Val) c.11354A>T (p.Glu3785Val) c.4964A>T (p.Glu1655Val) c.11156A>T (p.Glu3719Val) c.5036A>T (p.Glu1679Val) c.4580A>T (p.Glu1527Val) c.2711A>T (p.Glu904Val) c.11132A>T (p.Glu3711Val) c.2690A>T (p.Glu897Val) c.11363A>T (p.Glu3788Val) c.4928A>T (p.Glu1643Val) c.4670A>T (p.Glu1557Val) c.11192A>T (p.Glu3731Val) c.5162A>T (p.Glu1721Val) c.2447A>T (p.Glu816Val) c.1118A>T (p.Glu373Val) c.2166A>T c.*2778A>T (n.*2778A>T) c.11450A>T (p.Glu3817Val) c.5159A>T (p.Glu1720Val) c.11504A>T (p.Glu3835Val) c.11468A>T (p.Glu3823Val) c.5216A>T (p.Glu1739Val) c.5249A>T (p.Glu1750Val) c.5180A>T (p.Glu1727Val) c.11444A>T (p.Glu3815Val) c.11489A>T (p.Glu3830Val) c.5174A>T (p.Glu1725Val) c.5141A>T (p.Glu1714Val) c.5204A>T (p.Glu1735Val) c.5060A>T (p.Glu1687Val) c.5240A>T (p.Glu1747Val) c.5132A>T (p.Glu1711Val) c.5096A>T (p.Glu1699Val) c.5111A>T (p.Glu1704Val) c.5021A>T (p.Glu1674Val) c.4949A>T (p.Glu1650Val) c.5033A>T (p.Glu1678Val) c.4862A>T (p.Glu1621Val) c.11534A>T (p.Glu3845Val) c.11420A>T (p.Glu3807Val) c.11390A>T (p.Glu3797Val) c.11453A>T (p.Glu3818Val) c.11183A>T (p.Glu3728Val) c.4943A>T (p.Glu1648Val) c.4988A>T (p.Glu1663Val) c.5147A>T (p.Glu1716Val) c.5219A>T (p.Glu1740Val) c.4679A>T (p.Glu1560Val) c.5006A>T (p.Glu1669Val) c.7817A>T (p.Glu2606Val) c.1562A>T (p.Glu521Val) c.5027A>T (p.Glu1676Val) | |
4 | g.113369613G>A | CA440835572 | ANK2 | c.11559G>A (p.Glu3853=) c.5244G>A (p.Glu1748=) c.1845G>A (p.Glu615=) c.2343G>A (p.Glu781=) n.2800G>A n.2008G>A n.2752G>A n.1581G>A n.3543G>A n.1524G>A n.1917G>A n.8263G>A n.2889G>A n.873G>A n.3307G>A n.1522G>A c.11418G>A (p.Glu3806=) c.11256G>A (p.Glu3752=) c.2550G>A (p.Glu850=) c.873G>A (p.Glu291=) c.4977G>A (p.Glu1659=) c.5064G>A (p.Glu1688=) c.5001G>A (p.Glu1667=) c.5199G>A (p.Glu1733=) c.5100G>A (p.Glu1700=) c.11292G>A (p.Glu3764=) c.4902G>A (p.Glu1634=) c.*656G>A (n.*656G>A) c.11235G>A (p.Glu3745=) c.4779G>A (p.Glu1593=) c.11232G>A (p.Glu3744=) c.4878G>A (p.Glu1626=) c.11463G>A (p.Glu3821=) c.5013G>A (p.Glu1671=) c.4998G>A (p.Glu1666=) c.11499G>A (p.Glu3833=) c.4986G>A (p.Glu1662=) c.11220G>A (p.Glu3740=) c.4938G>A (p.Glu1646=) c.5136G>A (p.Glu1712=) c.2727G>A (p.Glu909=) c.11319G>A (p.Glu3773=) c.5208G>A (p.Glu1736=) c.11355G>A (p.Glu3785=) c.4965G>A (p.Glu1655=) c.11157G>A (p.Glu3719=) c.5037G>A (p.Glu1679=) c.4581G>A (p.Glu1527=) c.2712G>A (p.Glu904=) c.11133G>A (p.Glu3711=) c.2691G>A (p.Glu897=) c.11364G>A (p.Glu3788=) c.4929G>A (p.Glu1643=) c.4671G>A (p.Glu1557=) c.11193G>A (p.Glu3731=) c.5163G>A (p.Glu1721=) c.2448G>A (p.Glu816=) c.1119G>A (p.Glu373=) c.2167G>A c.*2779G>A (n.*2779G>A) c.11451G>A (p.Glu3817=) c.5160G>A (p.Glu1720=) c.11505G>A (p.Glu3835=) c.11469G>A (p.Glu3823=) c.5217G>A (p.Glu1739=) c.5250G>A (p.Glu1750=) c.5181G>A (p.Glu1727=) c.11445G>A (p.Glu3815=) c.11490G>A (p.Glu3830=) c.5175G>A (p.Glu1725=) c.5142G>A (p.Glu1714=) c.5205G>A (p.Glu1735=) c.5061G>A (p.Glu1687=) c.5241G>A (p.Glu1747=) c.5133G>A (p.Glu1711=) c.5097G>A (p.Glu1699=) c.5112G>A (p.Glu1704=) c.5022G>A (p.Glu1674=) c.4950G>A (p.Glu1650=) c.5034G>A (p.Glu1678=) c.4863G>A (p.Glu1621=) c.11535G>A (p.Glu3845=) c.11421G>A (p.Glu3807=) c.11391G>A (p.Glu3797=) c.11454G>A (p.Glu3818=) c.11184G>A (p.Glu3728=) c.4944G>A (p.Glu1648=) c.4989G>A (p.Glu1663=) c.5148G>A (p.Glu1716=) c.5220G>A (p.Glu1740=) c.4680G>A (p.Glu1560=) c.5007G>A (p.Glu1669=) c.7818G>A (p.Glu2606=) c.1563G>A (p.Glu521=) c.5028G>A (p.Glu1676=) | dbSNP gnomAD v4 |
4 | g.113369613G>C | CA357942674 | ANK2 | c.11559G>C (p.Glu3853Asp) c.5244G>C (p.Glu1748Asp) c.1845G>C (p.Glu615Asp) c.2343G>C (p.Glu781Asp) n.2800G>C n.2008G>C n.2752G>C n.1581G>C n.3543G>C n.1524G>C n.1917G>C n.8263G>C n.2889G>C n.873G>C n.3307G>C n.1522G>C c.11418G>C (p.Glu3806Asp) c.11256G>C (p.Glu3752Asp) c.2550G>C (p.Glu850Asp) c.873G>C (p.Glu291Asp) c.4977G>C (p.Glu1659Asp) c.5064G>C (p.Glu1688Asp) c.5001G>C (p.Glu1667Asp) c.5199G>C (p.Glu1733Asp) c.5100G>C (p.Glu1700Asp) c.11292G>C (p.Glu3764Asp) c.4902G>C (p.Glu1634Asp) c.*656G>C (n.*656G>C) c.11235G>C (p.Glu3745Asp) c.4779G>C (p.Glu1593Asp) c.11232G>C (p.Glu3744Asp) c.4878G>C (p.Glu1626Asp) c.11463G>C (p.Glu3821Asp) c.5013G>C (p.Glu1671Asp) c.4998G>C (p.Glu1666Asp) c.11499G>C (p.Glu3833Asp) c.4986G>C (p.Glu1662Asp) c.11220G>C (p.Glu3740Asp) c.4938G>C (p.Glu1646Asp) c.5136G>C (p.Glu1712Asp) c.2727G>C (p.Glu909Asp) c.11319G>C (p.Glu3773Asp) c.5208G>C (p.Glu1736Asp) c.11355G>C (p.Glu3785Asp) c.4965G>C (p.Glu1655Asp) c.11157G>C (p.Glu3719Asp) c.5037G>C (p.Glu1679Asp) c.4581G>C (p.Glu1527Asp) c.2712G>C (p.Glu904Asp) c.11133G>C (p.Glu3711Asp) c.2691G>C (p.Glu897Asp) c.11364G>C (p.Glu3788Asp) c.4929G>C (p.Glu1643Asp) c.4671G>C (p.Glu1557Asp) c.11193G>C (p.Glu3731Asp) c.5163G>C (p.Glu1721Asp) c.2448G>C (p.Glu816Asp) c.1119G>C (p.Glu373Asp) c.2167G>C c.*2779G>C (n.*2779G>C) c.11451G>C (p.Glu3817Asp) c.5160G>C (p.Glu1720Asp) c.11505G>C (p.Glu3835Asp) c.11469G>C (p.Glu3823Asp) c.5217G>C (p.Glu1739Asp) c.5250G>C (p.Glu1750Asp) c.5181G>C (p.Glu1727Asp) c.11445G>C (p.Glu3815Asp) c.11490G>C (p.Glu3830Asp) c.5175G>C (p.Glu1725Asp) c.5142G>C (p.Glu1714Asp) c.5205G>C (p.Glu1735Asp) c.5061G>C (p.Glu1687Asp) c.5241G>C (p.Glu1747Asp) c.5133G>C (p.Glu1711Asp) c.5097G>C (p.Glu1699Asp) c.5112G>C (p.Glu1704Asp) c.5022G>C (p.Glu1674Asp) c.4950G>C (p.Glu1650Asp) c.5034G>C (p.Glu1678Asp) c.4863G>C (p.Glu1621Asp) c.11535G>C (p.Glu3845Asp) c.11421G>C (p.Glu3807Asp) c.11391G>C (p.Glu3797Asp) c.11454G>C (p.Glu3818Asp) c.11184G>C (p.Glu3728Asp) c.4944G>C (p.Glu1648Asp) c.4989G>C (p.Glu1663Asp) c.5148G>C (p.Glu1716Asp) c.5220G>C (p.Glu1740Asp) c.4680G>C (p.Glu1560Asp) c.5007G>C (p.Glu1669Asp) c.7818G>C (p.Glu2606Asp) c.1563G>C (p.Glu521Asp) c.5028G>C (p.Glu1676Asp) | ClinVar dbSNP |
4 | g.113369613G>T | CA357942675 | ANK2 | c.11559G>T (p.Glu3853Asp) c.5244G>T (p.Glu1748Asp) c.1845G>T (p.Glu615Asp) c.2343G>T (p.Glu781Asp) n.2800G>T n.2008G>T n.2752G>T n.1581G>T n.3543G>T n.1524G>T n.1917G>T n.8263G>T n.2889G>T n.873G>T n.3307G>T n.1522G>T c.11418G>T (p.Glu3806Asp) c.11256G>T (p.Glu3752Asp) c.2550G>T (p.Glu850Asp) c.873G>T (p.Glu291Asp) c.4977G>T (p.Glu1659Asp) c.5064G>T (p.Glu1688Asp) c.5001G>T (p.Glu1667Asp) c.5199G>T (p.Glu1733Asp) c.5100G>T (p.Glu1700Asp) c.11292G>T (p.Glu3764Asp) c.4902G>T (p.Glu1634Asp) c.*656G>T (n.*656G>T) c.11235G>T (p.Glu3745Asp) c.4779G>T (p.Glu1593Asp) c.11232G>T (p.Glu3744Asp) c.4878G>T (p.Glu1626Asp) c.11463G>T (p.Glu3821Asp) c.5013G>T (p.Glu1671Asp) c.4998G>T (p.Glu1666Asp) c.11499G>T (p.Glu3833Asp) c.4986G>T (p.Glu1662Asp) c.11220G>T (p.Glu3740Asp) c.4938G>T (p.Glu1646Asp) c.5136G>T (p.Glu1712Asp) c.2727G>T (p.Glu909Asp) c.11319G>T (p.Glu3773Asp) c.5208G>T (p.Glu1736Asp) c.11355G>T (p.Glu3785Asp) c.4965G>T (p.Glu1655Asp) c.11157G>T (p.Glu3719Asp) c.5037G>T (p.Glu1679Asp) c.4581G>T (p.Glu1527Asp) c.2712G>T (p.Glu904Asp) c.11133G>T (p.Glu3711Asp) c.2691G>T (p.Glu897Asp) c.11364G>T (p.Glu3788Asp) c.4929G>T (p.Glu1643Asp) c.4671G>T (p.Glu1557Asp) c.11193G>T (p.Glu3731Asp) c.5163G>T (p.Glu1721Asp) c.2448G>T (p.Glu816Asp) c.1119G>T (p.Glu373Asp) c.2167G>T c.*2779G>T (n.*2779G>T) c.11451G>T (p.Glu3817Asp) c.5160G>T (p.Glu1720Asp) c.11505G>T (p.Glu3835Asp) c.11469G>T (p.Glu3823Asp) c.5217G>T (p.Glu1739Asp) c.5250G>T (p.Glu1750Asp) c.5181G>T (p.Glu1727Asp) c.11445G>T (p.Glu3815Asp) c.11490G>T (p.Glu3830Asp) c.5175G>T (p.Glu1725Asp) c.5142G>T (p.Glu1714Asp) c.5205G>T (p.Glu1735Asp) c.5061G>T (p.Glu1687Asp) c.5241G>T (p.Glu1747Asp) c.5133G>T (p.Glu1711Asp) c.5097G>T (p.Glu1699Asp) c.5112G>T (p.Glu1704Asp) c.5022G>T (p.Glu1674Asp) c.4950G>T (p.Glu1650Asp) c.5034G>T (p.Glu1678Asp) c.4863G>T (p.Glu1621Asp) c.11535G>T (p.Glu3845Asp) c.11421G>T (p.Glu3807Asp) c.11391G>T (p.Glu3797Asp) c.11454G>T (p.Glu3818Asp) c.11184G>T (p.Glu3728Asp) c.4944G>T (p.Glu1648Asp) c.4989G>T (p.Glu1663Asp) c.5148G>T (p.Glu1716Asp) c.5220G>T (p.Glu1740Asp) c.4680G>T (p.Glu1560Asp) c.5007G>T (p.Glu1669Asp) c.7818G>T (p.Glu2606Asp) c.1563G>T (p.Glu521Asp) c.5028G>T (p.Glu1676Asp) | dbSNP |
4 | g.113369614del | CA2706870077 | ANK2 | c.11560del (p.Glu3854ArgfsTer?) c.5245del (p.Glu1749ArgfsTer?) c.1846del (p.Glu616ArgfsTer?) c.2344del (p.Glu782ArgfsTer?) n.2801del n.2009del n.2753del n.1582del n.3544del n.1525del n.1918del n.8264del n.2890del n.874del n.3308del n.1523del c.11419del (p.Glu3807ArgfsTer?) c.11257del (p.Glu3753ArgfsTer?) c.2551del (p.Glu851ArgfsTer?) c.874del (p.Glu292ArgfsTer?) c.4978del (p.Glu1660ArgfsTer?) c.5065del (p.Glu1689ArgfsTer?) c.5002del (p.Glu1668ArgfsTer?) c.5200del (p.Glu1734ArgfsTer?) c.5101del (p.Glu1701ArgfsTer?) c.11293del (p.Glu3765ArgfsTer?) c.4903del (p.Glu1635ArgfsTer?) c.*657del (n.*657del) c.11236del (p.Glu3746ArgfsTer?) c.4780del (p.Glu1594ArgfsTer?) c.11233del (p.Glu3745ArgfsTer?) c.4879del (p.Glu1627ArgfsTer?) c.11464del (p.Glu3822ArgfsTer?) c.5014del (p.Glu1672ArgfsTer?) c.4999del (p.Glu1667ArgfsTer?) c.11500del (p.Glu3834ArgfsTer?) c.4987del (p.Glu1663ArgfsTer?) c.11221del (p.Glu3741ArgfsTer?) c.4939del (p.Glu1647ArgfsTer?) c.5137del (p.Glu1713ArgfsTer?) c.2728del (p.Glu910ArgfsTer?) c.11320del (p.Glu3774ArgfsTer?) c.5209del (p.Glu1737ArgfsTer?) c.11356del (p.Glu3786ArgfsTer?) c.4966del (p.Glu1656ArgfsTer?) c.11158del (p.Glu3720ArgfsTer?) c.5038del (p.Glu1680ArgfsTer?) c.4582del (p.Glu1528ArgfsTer?) c.2713del (p.Glu905ArgfsTer?) c.11134del (p.Glu3712ArgfsTer?) c.2692del (p.Glu898ArgfsTer?) c.11365del (p.Glu3789ArgfsTer?) c.4930del (p.Glu1644ArgfsTer?) c.4672del (p.Glu1558ArgfsTer?) c.11194del (p.Glu3732ArgfsTer?) c.5164del (p.Glu1722ArgfsTer?) c.2449del (p.Glu817ArgfsTer?) c.1120del (p.Glu374ArgfsTer?) c.2168del c.*2780del (n.*2780del) c.11452del (p.Glu3818ArgfsTer?) c.5161del (p.Glu1721ArgfsTer?) c.11506del (p.Glu3836ArgfsTer?) c.11470del (p.Glu3824ArgfsTer?) c.5218del (p.Glu1740ArgfsTer?) c.5251del (p.Glu1751ArgfsTer?) c.5182del (p.Glu1728ArgfsTer?) c.11446del (p.Glu3816ArgfsTer?) c.11491del (p.Glu3831ArgfsTer?) c.5176del (p.Glu1726ArgfsTer?) c.5143del (p.Glu1715ArgfsTer?) c.5206del (p.Glu1736ArgfsTer?) c.5062del (p.Glu1688ArgfsTer?) c.5242del (p.Glu1748ArgfsTer?) c.5134del (p.Glu1712ArgfsTer?) c.5098del (p.Glu1700ArgfsTer?) c.5113del (p.Glu1705ArgfsTer?) c.5023del (p.Glu1675ArgfsTer?) c.4951del (p.Glu1651ArgfsTer?) c.5035del (p.Glu1679ArgfsTer?) c.4864del (p.Glu1622ArgfsTer?) c.11536del (p.Glu3846ArgfsTer?) c.11422del (p.Glu3808ArgfsTer?) c.11392del (p.Glu3798ArgfsTer?) c.11455del (p.Glu3819ArgfsTer?) c.11185del (p.Glu3729ArgfsTer?) c.4945del (p.Glu1649ArgfsTer?) c.4990del (p.Glu1664ArgfsTer?) c.5149del (p.Glu1717ArgfsTer?) c.5221del (p.Glu1741ArgfsTer?) c.4681del (p.Glu1561ArgfsTer?) c.5008del (p.Glu1670ArgfsTer?) c.7819del (p.Glu2607ArgfsTer?) c.1564del (p.Glu522ArgfsTer?) c.5029del (p.Glu1677ArgfsTer?) | dbSNP |
4 | g.113369614G>A | CA357942676 | ANK2 | c.11560G>A (p.Glu3854Lys) c.5245G>A (p.Glu1749Lys) c.1846G>A (p.Glu616Lys) c.2344G>A (p.Glu782Lys) n.2801G>A n.2009G>A n.2753G>A n.1582G>A n.3544G>A n.1525G>A n.1918G>A n.8264G>A n.2890G>A n.874G>A n.3308G>A n.1523G>A c.11419G>A (p.Glu3807Lys) c.11257G>A (p.Glu3753Lys) c.2551G>A (p.Glu851Lys) c.874G>A (p.Glu292Lys) c.4978G>A (p.Glu1660Lys) c.5065G>A (p.Glu1689Lys) c.5002G>A (p.Glu1668Lys) c.5200G>A (p.Glu1734Lys) c.5101G>A (p.Glu1701Lys) c.11293G>A (p.Glu3765Lys) c.4903G>A (p.Glu1635Lys) c.*657G>A (n.*657G>A) c.11236G>A (p.Glu3746Lys) c.4780G>A (p.Glu1594Lys) c.11233G>A (p.Glu3745Lys) c.4879G>A (p.Glu1627Lys) c.11464G>A (p.Glu3822Lys) c.5014G>A (p.Glu1672Lys) c.4999G>A (p.Glu1667Lys) c.11500G>A (p.Glu3834Lys) c.4987G>A (p.Glu1663Lys) c.11221G>A (p.Glu3741Lys) c.4939G>A (p.Glu1647Lys) c.5137G>A (p.Glu1713Lys) c.2728G>A (p.Glu910Lys) c.11320G>A (p.Glu3774Lys) c.5209G>A (p.Glu1737Lys) c.11356G>A (p.Glu3786Lys) c.4966G>A (p.Glu1656Lys) c.11158G>A (p.Glu3720Lys) c.5038G>A (p.Glu1680Lys) c.4582G>A (p.Glu1528Lys) c.2713G>A (p.Glu905Lys) c.11134G>A (p.Glu3712Lys) c.2692G>A (p.Glu898Lys) c.11365G>A (p.Glu3789Lys) c.4930G>A (p.Glu1644Lys) c.4672G>A (p.Glu1558Lys) c.11194G>A (p.Glu3732Lys) c.5164G>A (p.Glu1722Lys) c.2449G>A (p.Glu817Lys) c.1120G>A (p.Glu374Lys) c.2168G>A c.*2780G>A (n.*2780G>A) c.11452G>A (p.Glu3818Lys) c.5161G>A (p.Glu1721Lys) c.11506G>A (p.Glu3836Lys) c.11470G>A (p.Glu3824Lys) c.5218G>A (p.Glu1740Lys) c.5251G>A (p.Glu1751Lys) c.5182G>A (p.Glu1728Lys) c.11446G>A (p.Glu3816Lys) c.11491G>A (p.Glu3831Lys) c.5176G>A (p.Glu1726Lys) c.5143G>A (p.Glu1715Lys) c.5206G>A (p.Glu1736Lys) c.5062G>A (p.Glu1688Lys) c.5242G>A (p.Glu1748Lys) c.5134G>A (p.Glu1712Lys) c.5098G>A (p.Glu1700Lys) c.5113G>A (p.Glu1705Lys) c.5023G>A (p.Glu1675Lys) c.4951G>A (p.Glu1651Lys) c.5035G>A (p.Glu1679Lys) c.4864G>A (p.Glu1622Lys) c.11536G>A (p.Glu3846Lys) c.11422G>A (p.Glu3808Lys) c.11392G>A (p.Glu3798Lys) c.11455G>A (p.Glu3819Lys) c.11185G>A (p.Glu3729Lys) c.4945G>A (p.Glu1649Lys) c.4990G>A (p.Glu1664Lys) c.5149G>A (p.Glu1717Lys) c.5221G>A (p.Glu1741Lys) c.4681G>A (p.Glu1561Lys) c.5008G>A (p.Glu1670Lys) c.7819G>A (p.Glu2607Lys) c.1564G>A (p.Glu522Lys) c.5029G>A (p.Glu1677Lys) | dbSNP |
4 | g.113369614G>C | CA357942678 | ANK2 | c.11560G>C (p.Glu3854Gln) c.5245G>C (p.Glu1749Gln) c.1846G>C (p.Glu616Gln) c.2344G>C (p.Glu782Gln) n.2801G>C n.2009G>C n.2753G>C n.1582G>C n.3544G>C n.1525G>C n.1918G>C n.8264G>C n.2890G>C n.874G>C n.3308G>C n.1523G>C c.11419G>C (p.Glu3807Gln) c.11257G>C (p.Glu3753Gln) c.2551G>C (p.Glu851Gln) c.874G>C (p.Glu292Gln) c.4978G>C (p.Glu1660Gln) c.5065G>C (p.Glu1689Gln) c.5002G>C (p.Glu1668Gln) c.5200G>C (p.Glu1734Gln) c.5101G>C (p.Glu1701Gln) c.11293G>C (p.Glu3765Gln) c.4903G>C (p.Glu1635Gln) c.*657G>C (n.*657G>C) c.11236G>C (p.Glu3746Gln) c.4780G>C (p.Glu1594Gln) c.11233G>C (p.Glu3745Gln) c.4879G>C (p.Glu1627Gln) c.11464G>C (p.Glu3822Gln) c.5014G>C (p.Glu1672Gln) c.4999G>C (p.Glu1667Gln) c.11500G>C (p.Glu3834Gln) c.4987G>C (p.Glu1663Gln) c.11221G>C (p.Glu3741Gln) c.4939G>C (p.Glu1647Gln) c.5137G>C (p.Glu1713Gln) c.2728G>C (p.Glu910Gln) c.11320G>C (p.Glu3774Gln) c.5209G>C (p.Glu1737Gln) c.11356G>C (p.Glu3786Gln) c.4966G>C (p.Glu1656Gln) c.11158G>C (p.Glu3720Gln) c.5038G>C (p.Glu1680Gln) c.4582G>C (p.Glu1528Gln) c.2713G>C (p.Glu905Gln) c.11134G>C (p.Glu3712Gln) c.2692G>C (p.Glu898Gln) c.11365G>C (p.Glu3789Gln) c.4930G>C (p.Glu1644Gln) c.4672G>C (p.Glu1558Gln) c.11194G>C (p.Glu3732Gln) c.5164G>C (p.Glu1722Gln) c.2449G>C (p.Glu817Gln) c.1120G>C (p.Glu374Gln) c.2168G>C c.*2780G>C (n.*2780G>C) c.11452G>C (p.Glu3818Gln) c.5161G>C (p.Glu1721Gln) c.11506G>C (p.Glu3836Gln) c.11470G>C (p.Glu3824Gln) c.5218G>C (p.Glu1740Gln) c.5251G>C (p.Glu1751Gln) c.5182G>C (p.Glu1728Gln) c.11446G>C (p.Glu3816Gln) c.11491G>C (p.Glu3831Gln) c.5176G>C (p.Glu1726Gln) c.5143G>C (p.Glu1715Gln) c.5206G>C (p.Glu1736Gln) c.5062G>C (p.Glu1688Gln) c.5242G>C (p.Glu1748Gln) c.5134G>C (p.Glu1712Gln) c.5098G>C (p.Glu1700Gln) c.5113G>C (p.Glu1705Gln) c.5023G>C (p.Glu1675Gln) c.4951G>C (p.Glu1651Gln) c.5035G>C (p.Glu1679Gln) c.4864G>C (p.Glu1622Gln) c.11536G>C (p.Glu3846Gln) c.11422G>C (p.Glu3808Gln) c.11392G>C (p.Glu3798Gln) c.11455G>C (p.Glu3819Gln) c.11185G>C (p.Glu3729Gln) c.4945G>C (p.Glu1649Gln) c.4990G>C (p.Glu1664Gln) c.5149G>C (p.Glu1717Gln) c.5221G>C (p.Glu1741Gln) c.4681G>C (p.Glu1561Gln) c.5008G>C (p.Glu1670Gln) c.7819G>C (p.Glu2607Gln) c.1564G>C (p.Glu522Gln) c.5029G>C (p.Glu1677Gln) | dbSNP |
4 | g.113369614G>T | CA357942677 | ANK2 | c.11560G>T (p.Glu3854Ter) c.5245G>T (p.Glu1749Ter) c.1846G>T (p.Glu616Ter) c.2344G>T (p.Glu782Ter) n.2801G>T n.2009G>T n.2753G>T n.1582G>T n.3544G>T n.1525G>T n.1918G>T n.8264G>T n.2890G>T n.874G>T n.3308G>T n.1523G>T c.11419G>T (p.Glu3807Ter) c.11257G>T (p.Glu3753Ter) c.2551G>T (p.Glu851Ter) c.874G>T (p.Glu292Ter) c.4978G>T (p.Glu1660Ter) c.5065G>T (p.Glu1689Ter) c.5002G>T (p.Glu1668Ter) c.5200G>T (p.Glu1734Ter) c.5101G>T (p.Glu1701Ter) c.11293G>T (p.Glu3765Ter) c.4903G>T (p.Glu1635Ter) c.*657G>T (n.*657G>T) c.11236G>T (p.Glu3746Ter) c.4780G>T (p.Glu1594Ter) c.11233G>T (p.Glu3745Ter) c.4879G>T (p.Glu1627Ter) c.11464G>T (p.Glu3822Ter) c.5014G>T (p.Glu1672Ter) c.4999G>T (p.Glu1667Ter) c.11500G>T (p.Glu3834Ter) c.4987G>T (p.Glu1663Ter) c.11221G>T (p.Glu3741Ter) c.4939G>T (p.Glu1647Ter) c.5137G>T (p.Glu1713Ter) c.2728G>T (p.Glu910Ter) c.11320G>T (p.Glu3774Ter) c.5209G>T (p.Glu1737Ter) c.11356G>T (p.Glu3786Ter) c.4966G>T (p.Glu1656Ter) c.11158G>T (p.Glu3720Ter) c.5038G>T (p.Glu1680Ter) c.4582G>T (p.Glu1528Ter) c.2713G>T (p.Glu905Ter) c.11134G>T (p.Glu3712Ter) c.2692G>T (p.Glu898Ter) c.11365G>T (p.Glu3789Ter) c.4930G>T (p.Glu1644Ter) c.4672G>T (p.Glu1558Ter) c.11194G>T (p.Glu3732Ter) c.5164G>T (p.Glu1722Ter) c.2449G>T (p.Glu817Ter) c.1120G>T (p.Glu374Ter) c.2168G>T c.*2780G>T (n.*2780G>T) c.11452G>T (p.Glu3818Ter) c.5161G>T (p.Glu1721Ter) c.11506G>T (p.Glu3836Ter) c.11470G>T (p.Glu3824Ter) c.5218G>T (p.Glu1740Ter) c.5251G>T (p.Glu1751Ter) c.5182G>T (p.Glu1728Ter) c.11446G>T (p.Glu3816Ter) c.11491G>T (p.Glu3831Ter) c.5176G>T (p.Glu1726Ter) c.5143G>T (p.Glu1715Ter) c.5206G>T (p.Glu1736Ter) c.5062G>T (p.Glu1688Ter) c.5242G>T (p.Glu1748Ter) c.5134G>T (p.Glu1712Ter) c.5098G>T (p.Glu1700Ter) c.5113G>T (p.Glu1705Ter) c.5023G>T (p.Glu1675Ter) c.4951G>T (p.Glu1651Ter) c.5035G>T (p.Glu1679Ter) c.4864G>T (p.Glu1622Ter) c.11536G>T (p.Glu3846Ter) c.11422G>T (p.Glu3808Ter) c.11392G>T (p.Glu3798Ter) c.11455G>T (p.Glu3819Ter) c.11185G>T (p.Glu3729Ter) c.4945G>T (p.Glu1649Ter) c.4990G>T (p.Glu1664Ter) c.5149G>T (p.Glu1717Ter) c.5221G>T (p.Glu1741Ter) c.4681G>T (p.Glu1561Ter) c.5008G>T (p.Glu1670Ter) c.7819G>T (p.Glu2607Ter) c.1564G>T (p.Glu522Ter) c.5029G>T (p.Glu1677Ter) | dbSNP |
4 | g.113369615A>C | CA357942679 | ANK2 | c.11561A>C (p.Glu3854Ala) c.5246A>C (p.Glu1749Ala) c.1847A>C (p.Glu616Ala) c.2345A>C (p.Glu782Ala) n.2802A>C n.2010A>C n.2754A>C n.1583A>C n.3545A>C n.1526A>C n.1919A>C n.8265A>C n.2891A>C n.875A>C n.3309A>C n.1524A>C c.11420A>C (p.Glu3807Ala) c.11258A>C (p.Glu3753Ala) c.2552A>C (p.Glu851Ala) c.875A>C (p.Glu292Ala) c.4979A>C (p.Glu1660Ala) c.5066A>C (p.Glu1689Ala) c.5003A>C (p.Glu1668Ala) c.5201A>C (p.Glu1734Ala) c.5102A>C (p.Glu1701Ala) c.11294A>C (p.Glu3765Ala) c.4904A>C (p.Glu1635Ala) c.*658A>C (n.*658A>C) c.11237A>C (p.Glu3746Ala) c.4781A>C (p.Glu1594Ala) c.11234A>C (p.Glu3745Ala) c.4880A>C (p.Glu1627Ala) c.11465A>C (p.Glu3822Ala) c.5015A>C (p.Glu1672Ala) c.5000A>C (p.Glu1667Ala) c.11501A>C (p.Glu3834Ala) c.4988A>C (p.Glu1663Ala) c.11222A>C (p.Glu3741Ala) c.4940A>C (p.Glu1647Ala) c.5138A>C (p.Glu1713Ala) c.2729A>C (p.Glu910Ala) c.11321A>C (p.Glu3774Ala) c.5210A>C (p.Glu1737Ala) c.11357A>C (p.Glu3786Ala) c.4967A>C (p.Glu1656Ala) c.11159A>C (p.Glu3720Ala) c.5039A>C (p.Glu1680Ala) c.4583A>C (p.Glu1528Ala) c.2714A>C (p.Glu905Ala) c.11135A>C (p.Glu3712Ala) c.2693A>C (p.Glu898Ala) c.11366A>C (p.Glu3789Ala) c.4931A>C (p.Glu1644Ala) c.4673A>C (p.Glu1558Ala) c.11195A>C (p.Glu3732Ala) c.5165A>C (p.Glu1722Ala) c.2450A>C (p.Glu817Ala) c.1121A>C (p.Glu374Ala) c.2169A>C c.*2781A>C (n.*2781A>C) c.11453A>C (p.Glu3818Ala) c.5162A>C (p.Glu1721Ala) c.11507A>C (p.Glu3836Ala) c.11471A>C (p.Glu3824Ala) c.5219A>C (p.Glu1740Ala) c.5252A>C (p.Glu1751Ala) c.5183A>C (p.Glu1728Ala) c.11447A>C (p.Glu3816Ala) c.11492A>C (p.Glu3831Ala) c.5177A>C (p.Glu1726Ala) c.5144A>C (p.Glu1715Ala) c.5207A>C (p.Glu1736Ala) c.5063A>C (p.Glu1688Ala) c.5243A>C (p.Glu1748Ala) c.5135A>C (p.Glu1712Ala) c.5099A>C (p.Glu1700Ala) c.5114A>C (p.Glu1705Ala) c.5024A>C (p.Glu1675Ala) c.4952A>C (p.Glu1651Ala) c.5036A>C (p.Glu1679Ala) c.4865A>C (p.Glu1622Ala) c.11537A>C (p.Glu3846Ala) c.11423A>C (p.Glu3808Ala) c.11393A>C (p.Glu3798Ala) c.11456A>C (p.Glu3819Ala) c.11186A>C (p.Glu3729Ala) c.4946A>C (p.Glu1649Ala) c.4991A>C (p.Glu1664Ala) c.5150A>C (p.Glu1717Ala) c.5222A>C (p.Glu1741Ala) c.4682A>C (p.Glu1561Ala) c.5009A>C (p.Glu1670Ala) c.7820A>C (p.Glu2607Ala) c.1565A>C (p.Glu522Ala) c.5030A>C (p.Glu1677Ala) | |
4 | g.113369615A>G | CA357942680 | ANK2 | c.11561A>G (p.Glu3854Gly) c.5246A>G (p.Glu1749Gly) c.1847A>G (p.Glu616Gly) c.2345A>G (p.Glu782Gly) n.2802A>G n.2010A>G n.2754A>G n.1583A>G n.3545A>G n.1526A>G n.1919A>G n.8265A>G n.2891A>G n.875A>G n.3309A>G n.1524A>G c.11420A>G (p.Glu3807Gly) c.11258A>G (p.Glu3753Gly) c.2552A>G (p.Glu851Gly) c.875A>G (p.Glu292Gly) c.4979A>G (p.Glu1660Gly) c.5066A>G (p.Glu1689Gly) c.5003A>G (p.Glu1668Gly) c.5201A>G (p.Glu1734Gly) c.5102A>G (p.Glu1701Gly) c.11294A>G (p.Glu3765Gly) c.4904A>G (p.Glu1635Gly) c.*658A>G (n.*658A>G) c.11237A>G (p.Glu3746Gly) c.4781A>G (p.Glu1594Gly) c.11234A>G (p.Glu3745Gly) c.4880A>G (p.Glu1627Gly) c.11465A>G (p.Glu3822Gly) c.5015A>G (p.Glu1672Gly) c.5000A>G (p.Glu1667Gly) c.11501A>G (p.Glu3834Gly) c.4988A>G (p.Glu1663Gly) c.11222A>G (p.Glu3741Gly) c.4940A>G (p.Glu1647Gly) c.5138A>G (p.Glu1713Gly) c.2729A>G (p.Glu910Gly) c.11321A>G (p.Glu3774Gly) c.5210A>G (p.Glu1737Gly) c.11357A>G (p.Glu3786Gly) c.4967A>G (p.Glu1656Gly) c.11159A>G (p.Glu3720Gly) c.5039A>G (p.Glu1680Gly) c.4583A>G (p.Glu1528Gly) c.2714A>G (p.Glu905Gly) c.11135A>G (p.Glu3712Gly) c.2693A>G (p.Glu898Gly) c.11366A>G (p.Glu3789Gly) c.4931A>G (p.Glu1644Gly) c.4673A>G (p.Glu1558Gly) c.11195A>G (p.Glu3732Gly) c.5165A>G (p.Glu1722Gly) c.2450A>G (p.Glu817Gly) c.1121A>G (p.Glu374Gly) c.2169A>G c.*2781A>G (n.*2781A>G) c.11453A>G (p.Glu3818Gly) c.5162A>G (p.Glu1721Gly) c.11507A>G (p.Glu3836Gly) c.11471A>G (p.Glu3824Gly) c.5219A>G (p.Glu1740Gly) c.5252A>G (p.Glu1751Gly) c.5183A>G (p.Glu1728Gly) c.11447A>G (p.Glu3816Gly) c.11492A>G (p.Glu3831Gly) c.5177A>G (p.Glu1726Gly) c.5144A>G (p.Glu1715Gly) c.5207A>G (p.Glu1736Gly) c.5063A>G (p.Glu1688Gly) c.5243A>G (p.Glu1748Gly) c.5135A>G (p.Glu1712Gly) c.5099A>G (p.Glu1700Gly) c.5114A>G (p.Glu1705Gly) c.5024A>G (p.Glu1675Gly) c.4952A>G (p.Glu1651Gly) c.5036A>G (p.Glu1679Gly) c.4865A>G (p.Glu1622Gly) c.11537A>G (p.Glu3846Gly) c.11423A>G (p.Glu3808Gly) c.11393A>G (p.Glu3798Gly) c.11456A>G (p.Glu3819Gly) c.11186A>G (p.Glu3729Gly) c.4946A>G (p.Glu1649Gly) c.4991A>G (p.Glu1664Gly) c.5150A>G (p.Glu1717Gly) c.5222A>G (p.Glu1741Gly) c.4682A>G (p.Glu1561Gly) c.5009A>G (p.Glu1670Gly) c.7820A>G (p.Glu2607Gly) c.1565A>G (p.Glu522Gly) c.5030A>G (p.Glu1677Gly) | dbSNP |
4 | g.113369615A>T | CA357942681 | ANK2 | c.11561A>T (p.Glu3854Val) c.5246A>T (p.Glu1749Val) c.1847A>T (p.Glu616Val) c.2345A>T (p.Glu782Val) n.2802A>T n.2010A>T n.2754A>T n.1583A>T n.3545A>T n.1526A>T n.1919A>T n.8265A>T n.2891A>T n.875A>T n.3309A>T n.1524A>T c.11420A>T (p.Glu3807Val) c.11258A>T (p.Glu3753Val) c.2552A>T (p.Glu851Val) c.875A>T (p.Glu292Val) c.4979A>T (p.Glu1660Val) c.5066A>T (p.Glu1689Val) c.5003A>T (p.Glu1668Val) c.5201A>T (p.Glu1734Val) c.5102A>T (p.Glu1701Val) c.11294A>T (p.Glu3765Val) c.4904A>T (p.Glu1635Val) c.*658A>T (n.*658A>T) c.11237A>T (p.Glu3746Val) c.4781A>T (p.Glu1594Val) c.11234A>T (p.Glu3745Val) c.4880A>T (p.Glu1627Val) c.11465A>T (p.Glu3822Val) c.5015A>T (p.Glu1672Val) c.5000A>T (p.Glu1667Val) c.11501A>T (p.Glu3834Val) c.4988A>T (p.Glu1663Val) c.11222A>T (p.Glu3741Val) c.4940A>T (p.Glu1647Val) c.5138A>T (p.Glu1713Val) c.2729A>T (p.Glu910Val) c.11321A>T (p.Glu3774Val) c.5210A>T (p.Glu1737Val) c.11357A>T (p.Glu3786Val) c.4967A>T (p.Glu1656Val) c.11159A>T (p.Glu3720Val) c.5039A>T (p.Glu1680Val) c.4583A>T (p.Glu1528Val) c.2714A>T (p.Glu905Val) c.11135A>T (p.Glu3712Val) c.2693A>T (p.Glu898Val) c.11366A>T (p.Glu3789Val) c.4931A>T (p.Glu1644Val) c.4673A>T (p.Glu1558Val) c.11195A>T (p.Glu3732Val) c.5165A>T (p.Glu1722Val) c.2450A>T (p.Glu817Val) c.1121A>T (p.Glu374Val) c.2169A>T c.*2781A>T (n.*2781A>T) c.11453A>T (p.Glu3818Val) c.5162A>T (p.Glu1721Val) c.11507A>T (p.Glu3836Val) c.11471A>T (p.Glu3824Val) c.5219A>T (p.Glu1740Val) c.5252A>T (p.Glu1751Val) c.5183A>T (p.Glu1728Val) c.11447A>T (p.Glu3816Val) c.11492A>T (p.Glu3831Val) c.5177A>T (p.Glu1726Val) c.5144A>T (p.Glu1715Val) c.5207A>T (p.Glu1736Val) c.5063A>T (p.Glu1688Val) c.5243A>T (p.Glu1748Val) c.5135A>T (p.Glu1712Val) c.5099A>T (p.Glu1700Val) c.5114A>T (p.Glu1705Val) c.5024A>T (p.Glu1675Val) c.4952A>T (p.Glu1651Val) c.5036A>T (p.Glu1679Val) c.4865A>T (p.Glu1622Val) c.11537A>T (p.Glu3846Val) c.11423A>T (p.Glu3808Val) c.11393A>T (p.Glu3798Val) c.11456A>T (p.Glu3819Val) c.11186A>T (p.Glu3729Val) c.4946A>T (p.Glu1649Val) c.4991A>T (p.Glu1664Val) c.5150A>T (p.Glu1717Val) c.5222A>T (p.Glu1741Val) c.4682A>T (p.Glu1561Val) c.5009A>T (p.Glu1670Val) c.7820A>T (p.Glu2607Val) c.1565A>T (p.Glu522Val) c.5030A>T (p.Glu1677Val) | |
4 | g.113369616G>A | CA440835573 | ANK2 | c.11562G>A (p.Glu3854=) c.5247G>A (p.Glu1749=) c.1848G>A (p.Glu616=) c.2346G>A (p.Glu782=) n.2803G>A n.2011G>A n.2755G>A n.1584G>A n.3546G>A n.1527G>A n.1920G>A n.8266G>A n.2892G>A n.876G>A n.3310G>A n.1525G>A c.11421G>A (p.Glu3807=) c.11259G>A (p.Glu3753=) c.2553G>A (p.Glu851=) c.876G>A (p.Glu292=) c.4980G>A (p.Glu1660=) c.5067G>A (p.Glu1689=) c.5004G>A (p.Glu1668=) c.5202G>A (p.Glu1734=) c.5103G>A (p.Glu1701=) c.11295G>A (p.Glu3765=) c.4905G>A (p.Glu1635=) c.*659G>A (n.*659G>A) c.11238G>A (p.Glu3746=) c.4782G>A (p.Glu1594=) c.11235G>A (p.Glu3745=) c.4881G>A (p.Glu1627=) c.11466G>A (p.Glu3822=) c.5016G>A (p.Glu1672=) c.5001G>A (p.Glu1667=) c.11502G>A (p.Glu3834=) c.4989G>A (p.Glu1663=) c.11223G>A (p.Glu3741=) c.4941G>A (p.Glu1647=) c.5139G>A (p.Glu1713=) c.2730G>A (p.Glu910=) c.11322G>A (p.Glu3774=) c.5211G>A (p.Glu1737=) c.11358G>A (p.Glu3786=) c.4968G>A (p.Glu1656=) c.11160G>A (p.Glu3720=) c.5040G>A (p.Glu1680=) c.4584G>A (p.Glu1528=) c.2715G>A (p.Glu905=) c.11136G>A (p.Glu3712=) c.2694G>A (p.Glu898=) c.11367G>A (p.Glu3789=) c.4932G>A (p.Glu1644=) c.4674G>A (p.Glu1558=) c.11196G>A (p.Glu3732=) c.5166G>A (p.Glu1722=) c.2451G>A (p.Glu817=) c.1122G>A (p.Glu374=) c.2170G>A c.*2782G>A (n.*2782G>A) c.11454G>A (p.Glu3818=) c.5163G>A (p.Glu1721=) c.11508G>A (p.Glu3836=) c.11472G>A (p.Glu3824=) c.5220G>A (p.Glu1740=) c.5253G>A (p.Glu1751=) c.5184G>A (p.Glu1728=) c.11448G>A (p.Glu3816=) c.11493G>A (p.Glu3831=) c.5178G>A (p.Glu1726=) c.5145G>A (p.Glu1715=) c.5208G>A (p.Glu1736=) c.5064G>A (p.Glu1688=) c.5244G>A (p.Glu1748=) c.5136G>A (p.Glu1712=) c.5100G>A (p.Glu1700=) c.5115G>A (p.Glu1705=) c.5025G>A (p.Glu1675=) c.4953G>A (p.Glu1651=) c.5037G>A (p.Glu1679=) c.4866G>A (p.Glu1622=) c.11538G>A (p.Glu3846=) c.11424G>A (p.Glu3808=) c.11394G>A (p.Glu3798=) c.11457G>A (p.Glu3819=) c.11187G>A (p.Glu3729=) c.4947G>A (p.Glu1649=) c.4992G>A (p.Glu1664=) c.5151G>A (p.Glu1717=) c.5223G>A (p.Glu1741=) c.4683G>A (p.Glu1561=) c.5010G>A (p.Glu1670=) c.7821G>A (p.Glu2607=) c.1566G>A (p.Glu522=) c.5031G>A (p.Glu1677=) | dbSNP |
4 | g.113369616G>C | CA357942682 | ANK2 | c.11562G>C (p.Glu3854Asp) c.5247G>C (p.Glu1749Asp) c.1848G>C (p.Glu616Asp) c.2346G>C (p.Glu782Asp) n.2803G>C n.2011G>C n.2755G>C n.1584G>C n.3546G>C n.1527G>C n.1920G>C n.8266G>C n.2892G>C n.876G>C n.3310G>C n.1525G>C c.11421G>C (p.Glu3807Asp) c.11259G>C (p.Glu3753Asp) c.2553G>C (p.Glu851Asp) c.876G>C (p.Glu292Asp) c.4980G>C (p.Glu1660Asp) c.5067G>C (p.Glu1689Asp) c.5004G>C (p.Glu1668Asp) c.5202G>C (p.Glu1734Asp) c.5103G>C (p.Glu1701Asp) c.11295G>C (p.Glu3765Asp) c.4905G>C (p.Glu1635Asp) c.*659G>C (n.*659G>C) c.11238G>C (p.Glu3746Asp) c.4782G>C (p.Glu1594Asp) c.11235G>C (p.Glu3745Asp) c.4881G>C (p.Glu1627Asp) c.11466G>C (p.Glu3822Asp) c.5016G>C (p.Glu1672Asp) c.5001G>C (p.Glu1667Asp) c.11502G>C (p.Glu3834Asp) c.4989G>C (p.Glu1663Asp) c.11223G>C (p.Glu3741Asp) c.4941G>C (p.Glu1647Asp) c.5139G>C (p.Glu1713Asp) c.2730G>C (p.Glu910Asp) c.11322G>C (p.Glu3774Asp) c.5211G>C (p.Glu1737Asp) c.11358G>C (p.Glu3786Asp) c.4968G>C (p.Glu1656Asp) c.11160G>C (p.Glu3720Asp) c.5040G>C (p.Glu1680Asp) c.4584G>C (p.Glu1528Asp) c.2715G>C (p.Glu905Asp) c.11136G>C (p.Glu3712Asp) c.2694G>C (p.Glu898Asp) c.11367G>C (p.Glu3789Asp) c.4932G>C (p.Glu1644Asp) c.4674G>C (p.Glu1558Asp) c.11196G>C (p.Glu3732Asp) c.5166G>C (p.Glu1722Asp) c.2451G>C (p.Glu817Asp) c.1122G>C (p.Glu374Asp) c.2170G>C c.*2782G>C (n.*2782G>C) c.11454G>C (p.Glu3818Asp) c.5163G>C (p.Glu1721Asp) c.11508G>C (p.Glu3836Asp) c.11472G>C (p.Glu3824Asp) c.5220G>C (p.Glu1740Asp) c.5253G>C (p.Glu1751Asp) c.5184G>C (p.Glu1728Asp) c.11448G>C (p.Glu3816Asp) c.11493G>C (p.Glu3831Asp) c.5178G>C (p.Glu1726Asp) c.5145G>C (p.Glu1715Asp) c.5208G>C (p.Glu1736Asp) c.5064G>C (p.Glu1688Asp) c.5244G>C (p.Glu1748Asp) c.5136G>C (p.Glu1712Asp) c.5100G>C (p.Glu1700Asp) c.5115G>C (p.Glu1705Asp) c.5025G>C (p.Glu1675Asp) c.4953G>C (p.Glu1651Asp) c.5037G>C (p.Glu1679Asp) c.4866G>C (p.Glu1622Asp) c.11538G>C (p.Glu3846Asp) c.11424G>C (p.Glu3808Asp) c.11394G>C (p.Glu3798Asp) c.11457G>C (p.Glu3819Asp) c.11187G>C (p.Glu3729Asp) c.4947G>C (p.Glu1649Asp) c.4992G>C (p.Glu1664Asp) c.5151G>C (p.Glu1717Asp) c.5223G>C (p.Glu1741Asp) c.4683G>C (p.Glu1561Asp) c.5010G>C (p.Glu1670Asp) c.7821G>C (p.Glu2607Asp) c.1566G>C (p.Glu522Asp) c.5031G>C (p.Glu1677Asp) | dbSNP |
4 | g.113369616G>T | CA357942683 | ANK2 | c.11562G>T (p.Glu3854Asp) c.5247G>T (p.Glu1749Asp) c.1848G>T (p.Glu616Asp) c.2346G>T (p.Glu782Asp) n.2803G>T n.2011G>T n.2755G>T n.1584G>T n.3546G>T n.1527G>T n.1920G>T n.8266G>T n.2892G>T n.876G>T n.3310G>T n.1525G>T c.11421G>T (p.Glu3807Asp) c.11259G>T (p.Glu3753Asp) c.2553G>T (p.Glu851Asp) c.876G>T (p.Glu292Asp) c.4980G>T (p.Glu1660Asp) c.5067G>T (p.Glu1689Asp) c.5004G>T (p.Glu1668Asp) c.5202G>T (p.Glu1734Asp) c.5103G>T (p.Glu1701Asp) c.11295G>T (p.Glu3765Asp) c.4905G>T (p.Glu1635Asp) c.*659G>T (n.*659G>T) c.11238G>T (p.Glu3746Asp) c.4782G>T (p.Glu1594Asp) c.11235G>T (p.Glu3745Asp) c.4881G>T (p.Glu1627Asp) c.11466G>T (p.Glu3822Asp) c.5016G>T (p.Glu1672Asp) c.5001G>T (p.Glu1667Asp) c.11502G>T (p.Glu3834Asp) c.4989G>T (p.Glu1663Asp) c.11223G>T (p.Glu3741Asp) c.4941G>T (p.Glu1647Asp) c.5139G>T (p.Glu1713Asp) c.2730G>T (p.Glu910Asp) c.11322G>T (p.Glu3774Asp) c.5211G>T (p.Glu1737Asp) c.11358G>T (p.Glu3786Asp) c.4968G>T (p.Glu1656Asp) c.11160G>T (p.Glu3720Asp) c.5040G>T (p.Glu1680Asp) c.4584G>T (p.Glu1528Asp) c.2715G>T (p.Glu905Asp) c.11136G>T (p.Glu3712Asp) c.2694G>T (p.Glu898Asp) c.11367G>T (p.Glu3789Asp) c.4932G>T (p.Glu1644Asp) c.4674G>T (p.Glu1558Asp) c.11196G>T (p.Glu3732Asp) c.5166G>T (p.Glu1722Asp) c.2451G>T (p.Glu817Asp) c.1122G>T (p.Glu374Asp) c.2170G>T c.*2782G>T (n.*2782G>T) c.11454G>T (p.Glu3818Asp) c.5163G>T (p.Glu1721Asp) c.11508G>T (p.Glu3836Asp) c.11472G>T (p.Glu3824Asp) c.5220G>T (p.Glu1740Asp) c.5253G>T (p.Glu1751Asp) c.5184G>T (p.Glu1728Asp) c.11448G>T (p.Glu3816Asp) c.11493G>T (p.Glu3831Asp) c.5178G>T (p.Glu1726Asp) c.5145G>T (p.Glu1715Asp) c.5208G>T (p.Glu1736Asp) c.5064G>T (p.Glu1688Asp) c.5244G>T (p.Glu1748Asp) c.5136G>T (p.Glu1712Asp) c.5100G>T (p.Glu1700Asp) c.5115G>T (p.Glu1705Asp) c.5025G>T (p.Glu1675Asp) c.4953G>T (p.Glu1651Asp) c.5037G>T (p.Glu1679Asp) c.4866G>T (p.Glu1622Asp) c.11538G>T (p.Glu3846Asp) c.11424G>T (p.Glu3808Asp) c.11394G>T (p.Glu3798Asp) c.11457G>T (p.Glu3819Asp) c.11187G>T (p.Glu3729Asp) c.4947G>T (p.Glu1649Asp) c.4992G>T (p.Glu1664Asp) c.5151G>T (p.Glu1717Asp) c.5223G>T (p.Glu1741Asp) c.4683G>T (p.Glu1561Asp) c.5010G>T (p.Glu1670Asp) c.7821G>T (p.Glu2607Asp) c.1566G>T (p.Glu522Asp) c.5031G>T (p.Glu1677Asp) | |
4 | g.113369617G>A | CA357942684 | ANK2 | c.11563G>A (p.Glu3855Lys) c.5248G>A (p.Glu1750Lys) c.1849G>A (p.Glu617Lys) c.2347G>A (p.Glu783Lys) n.2804G>A n.2012G>A n.2756G>A n.1585G>A n.3547G>A n.1528G>A n.1921G>A n.8267G>A n.2893G>A n.877G>A n.3311G>A n.1526G>A c.11422G>A (p.Glu3808Lys) c.11260G>A (p.Glu3754Lys) c.2554G>A (p.Glu852Lys) c.877G>A (p.Glu293Lys) c.4981G>A (p.Glu1661Lys) c.5068G>A (p.Glu1690Lys) c.5005G>A (p.Glu1669Lys) c.5203G>A (p.Glu1735Lys) c.5104G>A (p.Glu1702Lys) c.11296G>A (p.Glu3766Lys) c.4906G>A (p.Glu1636Lys) c.*660G>A (n.*660G>A) c.11239G>A (p.Glu3747Lys) c.4783G>A (p.Glu1595Lys) c.11236G>A (p.Glu3746Lys) c.4882G>A (p.Glu1628Lys) c.11467G>A (p.Glu3823Lys) c.5017G>A (p.Glu1673Lys) c.5002G>A (p.Glu1668Lys) c.11503G>A (p.Glu3835Lys) c.4990G>A (p.Glu1664Lys) c.11224G>A (p.Glu3742Lys) c.4942G>A (p.Glu1648Lys) c.5140G>A (p.Glu1714Lys) c.2731G>A (p.Glu911Lys) c.11323G>A (p.Glu3775Lys) c.5212G>A (p.Glu1738Lys) c.11359G>A (p.Glu3787Lys) c.4969G>A (p.Glu1657Lys) c.11161G>A (p.Glu3721Lys) c.5041G>A (p.Glu1681Lys) c.4585G>A (p.Glu1529Lys) c.2716G>A (p.Glu906Lys) c.11137G>A (p.Glu3713Lys) c.2695G>A (p.Glu899Lys) c.11368G>A (p.Glu3790Lys) c.4933G>A (p.Glu1645Lys) c.4675G>A (p.Glu1559Lys) c.11197G>A (p.Glu3733Lys) c.5167G>A (p.Glu1723Lys) c.2452G>A (p.Glu818Lys) c.1123G>A (p.Glu375Lys) c.2171G>A c.*2783G>A (n.*2783G>A) c.11455G>A (p.Glu3819Lys) c.5164G>A (p.Glu1722Lys) c.11509G>A (p.Glu3837Lys) c.11473G>A (p.Glu3825Lys) c.5221G>A (p.Glu1741Lys) c.5254G>A (p.Glu1752Lys) c.5185G>A (p.Glu1729Lys) c.11449G>A (p.Glu3817Lys) c.11494G>A (p.Glu3832Lys) c.5179G>A (p.Glu1727Lys) c.5146G>A (p.Glu1716Lys) c.5209G>A (p.Glu1737Lys) c.5065G>A (p.Glu1689Lys) c.5245G>A (p.Glu1749Lys) c.5137G>A (p.Glu1713Lys) c.5101G>A (p.Glu1701Lys) c.5116G>A (p.Glu1706Lys) c.5026G>A (p.Glu1676Lys) c.4954G>A (p.Glu1652Lys) c.5038G>A (p.Glu1680Lys) c.4867G>A (p.Glu1623Lys) c.11539G>A (p.Glu3847Lys) c.11425G>A (p.Glu3809Lys) c.11395G>A (p.Glu3799Lys) c.11458G>A (p.Glu3820Lys) c.11188G>A (p.Glu3730Lys) c.4948G>A (p.Glu1650Lys) c.4993G>A (p.Glu1665Lys) c.5152G>A (p.Glu1718Lys) c.5224G>A (p.Glu1742Lys) c.4684G>A (p.Glu1562Lys) c.5011G>A (p.Glu1671Lys) c.7822G>A (p.Glu2608Lys) c.1567G>A (p.Glu523Lys) c.5032G>A (p.Glu1678Lys) | dbSNP |
4 | g.113369617G>C | CA357942685 | ANK2 | c.11563G>C (p.Glu3855Gln) c.5248G>C (p.Glu1750Gln) c.1849G>C (p.Glu617Gln) c.2347G>C (p.Glu783Gln) n.2804G>C n.2012G>C n.2756G>C n.1585G>C n.3547G>C n.1528G>C n.1921G>C n.8267G>C n.2893G>C n.877G>C n.3311G>C n.1526G>C c.11422G>C (p.Glu3808Gln) c.11260G>C (p.Glu3754Gln) c.2554G>C (p.Glu852Gln) c.877G>C (p.Glu293Gln) c.4981G>C (p.Glu1661Gln) c.5068G>C (p.Glu1690Gln) c.5005G>C (p.Glu1669Gln) c.5203G>C (p.Glu1735Gln) c.5104G>C (p.Glu1702Gln) c.11296G>C (p.Glu3766Gln) c.4906G>C (p.Glu1636Gln) c.*660G>C (n.*660G>C) c.11239G>C (p.Glu3747Gln) c.4783G>C (p.Glu1595Gln) c.11236G>C (p.Glu3746Gln) c.4882G>C (p.Glu1628Gln) c.11467G>C (p.Glu3823Gln) c.5017G>C (p.Glu1673Gln) c.5002G>C (p.Glu1668Gln) c.11503G>C (p.Glu3835Gln) c.4990G>C (p.Glu1664Gln) c.11224G>C (p.Glu3742Gln) c.4942G>C (p.Glu1648Gln) c.5140G>C (p.Glu1714Gln) c.2731G>C (p.Glu911Gln) c.11323G>C (p.Glu3775Gln) c.5212G>C (p.Glu1738Gln) c.11359G>C (p.Glu3787Gln) c.4969G>C (p.Glu1657Gln) c.11161G>C (p.Glu3721Gln) c.5041G>C (p.Glu1681Gln) c.4585G>C (p.Glu1529Gln) c.2716G>C (p.Glu906Gln) c.11137G>C (p.Glu3713Gln) c.2695G>C (p.Glu899Gln) c.11368G>C (p.Glu3790Gln) c.4933G>C (p.Glu1645Gln) c.4675G>C (p.Glu1559Gln) c.11197G>C (p.Glu3733Gln) c.5167G>C (p.Glu1723Gln) c.2452G>C (p.Glu818Gln) c.1123G>C (p.Glu375Gln) c.2171G>C c.*2783G>C (n.*2783G>C) c.11455G>C (p.Glu3819Gln) c.5164G>C (p.Glu1722Gln) c.11509G>C (p.Glu3837Gln) c.11473G>C (p.Glu3825Gln) c.5221G>C (p.Glu1741Gln) c.5254G>C (p.Glu1752Gln) c.5185G>C (p.Glu1729Gln) c.11449G>C (p.Glu3817Gln) c.11494G>C (p.Glu3832Gln) c.5179G>C (p.Glu1727Gln) c.5146G>C (p.Glu1716Gln) c.5209G>C (p.Glu1737Gln) c.5065G>C (p.Glu1689Gln) c.5245G>C (p.Glu1749Gln) c.5137G>C (p.Glu1713Gln) c.5101G>C (p.Glu1701Gln) c.5116G>C (p.Glu1706Gln) c.5026G>C (p.Glu1676Gln) c.4954G>C (p.Glu1652Gln) c.5038G>C (p.Glu1680Gln) c.4867G>C (p.Glu1623Gln) c.11539G>C (p.Glu3847Gln) c.11425G>C (p.Glu3809Gln) c.11395G>C (p.Glu3799Gln) c.11458G>C (p.Glu3820Gln) c.11188G>C (p.Glu3730Gln) c.4948G>C (p.Glu1650Gln) c.4993G>C (p.Glu1665Gln) c.5152G>C (p.Glu1718Gln) c.5224G>C (p.Glu1742Gln) c.4684G>C (p.Glu1562Gln) c.5011G>C (p.Glu1671Gln) c.7822G>C (p.Glu2608Gln) c.1567G>C (p.Glu523Gln) c.5032G>C (p.Glu1678Gln) | dbSNP |
4 | g.113369617G>T | CA357942686 | ANK2 | c.11563G>T (p.Glu3855Ter) c.5248G>T (p.Glu1750Ter) c.1849G>T (p.Glu617Ter) c.2347G>T (p.Glu783Ter) n.2804G>T n.2012G>T n.2756G>T n.1585G>T n.3547G>T n.1528G>T n.1921G>T n.8267G>T n.2893G>T n.877G>T n.3311G>T n.1526G>T c.11422G>T (p.Glu3808Ter) c.11260G>T (p.Glu3754Ter) c.2554G>T (p.Glu852Ter) c.877G>T (p.Glu293Ter) c.4981G>T (p.Glu1661Ter) c.5068G>T (p.Glu1690Ter) c.5005G>T (p.Glu1669Ter) c.5203G>T (p.Glu1735Ter) c.5104G>T (p.Glu1702Ter) c.11296G>T (p.Glu3766Ter) c.4906G>T (p.Glu1636Ter) c.*660G>T (n.*660G>T) c.11239G>T (p.Glu3747Ter) c.4783G>T (p.Glu1595Ter) c.11236G>T (p.Glu3746Ter) c.4882G>T (p.Glu1628Ter) c.11467G>T (p.Glu3823Ter) c.5017G>T (p.Glu1673Ter) c.5002G>T (p.Glu1668Ter) c.11503G>T (p.Glu3835Ter) c.4990G>T (p.Glu1664Ter) c.11224G>T (p.Glu3742Ter) c.4942G>T (p.Glu1648Ter) c.5140G>T (p.Glu1714Ter) c.2731G>T (p.Glu911Ter) c.11323G>T (p.Glu3775Ter) c.5212G>T (p.Glu1738Ter) c.11359G>T (p.Glu3787Ter) c.4969G>T (p.Glu1657Ter) c.11161G>T (p.Glu3721Ter) c.5041G>T (p.Glu1681Ter) c.4585G>T (p.Glu1529Ter) c.2716G>T (p.Glu906Ter) c.11137G>T (p.Glu3713Ter) c.2695G>T (p.Glu899Ter) c.11368G>T (p.Glu3790Ter) c.4933G>T (p.Glu1645Ter) c.4675G>T (p.Glu1559Ter) c.11197G>T (p.Glu3733Ter) c.5167G>T (p.Glu1723Ter) c.2452G>T (p.Glu818Ter) c.1123G>T (p.Glu375Ter) c.2171G>T c.*2783G>T (n.*2783G>T) c.11455G>T (p.Glu3819Ter) c.5164G>T (p.Glu1722Ter) c.11509G>T (p.Glu3837Ter) c.11473G>T (p.Glu3825Ter) c.5221G>T (p.Glu1741Ter) c.5254G>T (p.Glu1752Ter) c.5185G>T (p.Glu1729Ter) c.11449G>T (p.Glu3817Ter) c.11494G>T (p.Glu3832Ter) c.5179G>T (p.Glu1727Ter) c.5146G>T (p.Glu1716Ter) c.5209G>T (p.Glu1737Ter) c.5065G>T (p.Glu1689Ter) c.5245G>T (p.Glu1749Ter) c.5137G>T (p.Glu1713Ter) c.5101G>T (p.Glu1701Ter) c.5116G>T (p.Glu1706Ter) c.5026G>T (p.Glu1676Ter) c.4954G>T (p.Glu1652Ter) c.5038G>T (p.Glu1680Ter) c.4867G>T (p.Glu1623Ter) c.11539G>T (p.Glu3847Ter) c.11425G>T (p.Glu3809Ter) c.11395G>T (p.Glu3799Ter) c.11458G>T (p.Glu3820Ter) c.11188G>T (p.Glu3730Ter) c.4948G>T (p.Glu1650Ter) c.4993G>T (p.Glu1665Ter) c.5152G>T (p.Glu1718Ter) c.5224G>T (p.Glu1742Ter) c.4684G>T (p.Glu1562Ter) c.5011G>T (p.Glu1671Ter) c.7822G>T (p.Glu2608Ter) c.1567G>T (p.Glu523Ter) c.5032G>T (p.Glu1678Ter) | |
4 | g.113369618A>C | CA357942687 | ANK2 | c.11564A>C (p.Glu3855Ala) c.5249A>C (p.Glu1750Ala) c.1850A>C (p.Glu617Ala) c.2348A>C (p.Glu783Ala) n.2805A>C n.2013A>C n.2757A>C n.1586A>C n.3548A>C n.1529A>C n.1922A>C n.8268A>C n.2894A>C n.878A>C n.3312A>C n.1527A>C c.11423A>C (p.Glu3808Ala) c.11261A>C (p.Glu3754Ala) c.2555A>C (p.Glu852Ala) c.878A>C (p.Glu293Ala) c.4982A>C (p.Glu1661Ala) c.5069A>C (p.Glu1690Ala) c.5006A>C (p.Glu1669Ala) c.5204A>C (p.Glu1735Ala) c.5105A>C (p.Glu1702Ala) c.11297A>C (p.Glu3766Ala) c.4907A>C (p.Glu1636Ala) c.*661A>C (n.*661A>C) c.11240A>C (p.Glu3747Ala) c.4784A>C (p.Glu1595Ala) c.11237A>C (p.Glu3746Ala) c.4883A>C (p.Glu1628Ala) c.11468A>C (p.Glu3823Ala) c.5018A>C (p.Glu1673Ala) c.5003A>C (p.Glu1668Ala) c.11504A>C (p.Glu3835Ala) c.4991A>C (p.Glu1664Ala) c.11225A>C (p.Glu3742Ala) c.4943A>C (p.Glu1648Ala) c.5141A>C (p.Glu1714Ala) c.2732A>C (p.Glu911Ala) c.11324A>C (p.Glu3775Ala) c.5213A>C (p.Glu1738Ala) c.11360A>C (p.Glu3787Ala) c.4970A>C (p.Glu1657Ala) c.11162A>C (p.Glu3721Ala) c.5042A>C (p.Glu1681Ala) c.4586A>C (p.Glu1529Ala) c.2717A>C (p.Glu906Ala) c.11138A>C (p.Glu3713Ala) c.2696A>C (p.Glu899Ala) c.11369A>C (p.Glu3790Ala) c.4934A>C (p.Glu1645Ala) c.4676A>C (p.Glu1559Ala) c.11198A>C (p.Glu3733Ala) c.5168A>C (p.Glu1723Ala) c.2453A>C (p.Glu818Ala) c.1124A>C (p.Glu375Ala) c.2172A>C c.*2784A>C (n.*2784A>C) c.11456A>C (p.Glu3819Ala) c.5165A>C (p.Glu1722Ala) c.11510A>C (p.Glu3837Ala) c.11474A>C (p.Glu3825Ala) c.5222A>C (p.Glu1741Ala) c.5255A>C (p.Glu1752Ala) c.5186A>C (p.Glu1729Ala) c.11450A>C (p.Glu3817Ala) c.11495A>C (p.Glu3832Ala) c.5180A>C (p.Glu1727Ala) c.5147A>C (p.Glu1716Ala) c.5210A>C (p.Glu1737Ala) c.5066A>C (p.Glu1689Ala) c.5246A>C (p.Glu1749Ala) c.5138A>C (p.Glu1713Ala) c.5102A>C (p.Glu1701Ala) c.5117A>C (p.Glu1706Ala) c.5027A>C (p.Glu1676Ala) c.4955A>C (p.Glu1652Ala) c.5039A>C (p.Glu1680Ala) c.4868A>C (p.Glu1623Ala) c.11540A>C (p.Glu3847Ala) c.11426A>C (p.Glu3809Ala) c.11396A>C (p.Glu3799Ala) c.11459A>C (p.Glu3820Ala) c.11189A>C (p.Glu3730Ala) c.4949A>C (p.Glu1650Ala) c.4994A>C (p.Glu1665Ala) c.5153A>C (p.Glu1718Ala) c.5225A>C (p.Glu1742Ala) c.4685A>C (p.Glu1562Ala) c.5012A>C (p.Glu1671Ala) c.7823A>C (p.Glu2608Ala) c.1568A>C (p.Glu523Ala) c.5033A>C (p.Glu1678Ala) | |
4 | g.113369618A>G | CA103823704 | ANK2 | c.11564A>G (p.Glu3855Gly) c.5249A>G (p.Glu1750Gly) c.1850A>G (p.Glu617Gly) c.2348A>G (p.Glu783Gly) n.2805A>G n.2013A>G n.2757A>G n.1586A>G n.3548A>G n.1529A>G n.1922A>G n.8268A>G n.2894A>G n.878A>G n.3312A>G n.1527A>G c.11423A>G (p.Glu3808Gly) c.11261A>G (p.Glu3754Gly) c.2555A>G (p.Glu852Gly) c.878A>G (p.Glu293Gly) c.4982A>G (p.Glu1661Gly) c.5069A>G (p.Glu1690Gly) c.5006A>G (p.Glu1669Gly) c.5204A>G (p.Glu1735Gly) c.5105A>G (p.Glu1702Gly) c.11297A>G (p.Glu3766Gly) c.4907A>G (p.Glu1636Gly) c.*661A>G (n.*661A>G) c.11240A>G (p.Glu3747Gly) c.4784A>G (p.Glu1595Gly) c.11237A>G (p.Glu3746Gly) c.4883A>G (p.Glu1628Gly) c.11468A>G (p.Glu3823Gly) c.5018A>G (p.Glu1673Gly) c.5003A>G (p.Glu1668Gly) c.11504A>G (p.Glu3835Gly) c.4991A>G (p.Glu1664Gly) c.11225A>G (p.Glu3742Gly) c.4943A>G (p.Glu1648Gly) c.5141A>G (p.Glu1714Gly) c.2732A>G (p.Glu911Gly) c.11324A>G (p.Glu3775Gly) c.5213A>G (p.Glu1738Gly) c.11360A>G (p.Glu3787Gly) c.4970A>G (p.Glu1657Gly) c.11162A>G (p.Glu3721Gly) c.5042A>G (p.Glu1681Gly) c.4586A>G (p.Glu1529Gly) c.2717A>G (p.Glu906Gly) c.11138A>G (p.Glu3713Gly) c.2696A>G (p.Glu899Gly) c.11369A>G (p.Glu3790Gly) c.4934A>G (p.Glu1645Gly) c.4676A>G (p.Glu1559Gly) c.11198A>G (p.Glu3733Gly) c.5168A>G (p.Glu1723Gly) c.2453A>G (p.Glu818Gly) c.1124A>G (p.Glu375Gly) c.2172A>G c.*2784A>G (n.*2784A>G) c.11456A>G (p.Glu3819Gly) c.5165A>G (p.Glu1722Gly) c.11510A>G (p.Glu3837Gly) c.11474A>G (p.Glu3825Gly) c.5222A>G (p.Glu1741Gly) c.5255A>G (p.Glu1752Gly) c.5186A>G (p.Glu1729Gly) c.11450A>G (p.Glu3817Gly) c.11495A>G (p.Glu3832Gly) c.5180A>G (p.Glu1727Gly) c.5147A>G (p.Glu1716Gly) c.5210A>G (p.Glu1737Gly) c.5066A>G (p.Glu1689Gly) c.5246A>G (p.Glu1749Gly) c.5138A>G (p.Glu1713Gly) c.5102A>G (p.Glu1701Gly) c.5117A>G (p.Glu1706Gly) c.5027A>G (p.Glu1676Gly) c.4955A>G (p.Glu1652Gly) c.5039A>G (p.Glu1680Gly) c.4868A>G (p.Glu1623Gly) c.11540A>G (p.Glu3847Gly) c.11426A>G (p.Glu3809Gly) c.11396A>G (p.Glu3799Gly) c.11459A>G (p.Glu3820Gly) c.11189A>G (p.Glu3730Gly) c.4949A>G (p.Glu1650Gly) c.4994A>G (p.Glu1665Gly) c.5153A>G (p.Glu1718Gly) c.5225A>G (p.Glu1742Gly) c.4685A>G (p.Glu1562Gly) c.5012A>G (p.Glu1671Gly) c.7823A>G (p.Glu2608Gly) c.1568A>G (p.Glu523Gly) c.5033A>G (p.Glu1678Gly) | dbSNP |
4 | g.113369618A>T | CA357942688 | ANK2 | c.11564A>T (p.Glu3855Val) c.5249A>T (p.Glu1750Val) c.1850A>T (p.Glu617Val) c.2348A>T (p.Glu783Val) n.2805A>T n.2013A>T n.2757A>T n.1586A>T n.3548A>T n.1529A>T n.1922A>T n.8268A>T n.2894A>T n.878A>T n.3312A>T n.1527A>T c.11423A>T (p.Glu3808Val) c.11261A>T (p.Glu3754Val) c.2555A>T (p.Glu852Val) c.878A>T (p.Glu293Val) c.4982A>T (p.Glu1661Val) c.5069A>T (p.Glu1690Val) c.5006A>T (p.Glu1669Val) c.5204A>T (p.Glu1735Val) c.5105A>T (p.Glu1702Val) c.11297A>T (p.Glu3766Val) c.4907A>T (p.Glu1636Val) c.*661A>T (n.*661A>T) c.11240A>T (p.Glu3747Val) c.4784A>T (p.Glu1595Val) c.11237A>T (p.Glu3746Val) c.4883A>T (p.Glu1628Val) c.11468A>T (p.Glu3823Val) c.5018A>T (p.Glu1673Val) c.5003A>T (p.Glu1668Val) c.11504A>T (p.Glu3835Val) c.4991A>T (p.Glu1664Val) c.11225A>T (p.Glu3742Val) c.4943A>T (p.Glu1648Val) c.5141A>T (p.Glu1714Val) c.2732A>T (p.Glu911Val) c.11324A>T (p.Glu3775Val) c.5213A>T (p.Glu1738Val) c.11360A>T (p.Glu3787Val) c.4970A>T (p.Glu1657Val) c.11162A>T (p.Glu3721Val) c.5042A>T (p.Glu1681Val) c.4586A>T (p.Glu1529Val) c.2717A>T (p.Glu906Val) c.11138A>T (p.Glu3713Val) c.2696A>T (p.Glu899Val) c.11369A>T (p.Glu3790Val) c.4934A>T (p.Glu1645Val) c.4676A>T (p.Glu1559Val) c.11198A>T (p.Glu3733Val) c.5168A>T (p.Glu1723Val) c.2453A>T (p.Glu818Val) c.1124A>T (p.Glu375Val) c.2172A>T c.*2784A>T (n.*2784A>T) c.11456A>T (p.Glu3819Val) c.5165A>T (p.Glu1722Val) c.11510A>T (p.Glu3837Val) c.11474A>T (p.Glu3825Val) c.5222A>T (p.Glu1741Val) c.5255A>T (p.Glu1752Val) c.5186A>T (p.Glu1729Val) c.11450A>T (p.Glu3817Val) c.11495A>T (p.Glu3832Val) c.5180A>T (p.Glu1727Val) c.5147A>T (p.Glu1716Val) c.5210A>T (p.Glu1737Val) c.5066A>T (p.Glu1689Val) c.5246A>T (p.Glu1749Val) c.5138A>T (p.Glu1713Val) c.5102A>T (p.Glu1701Val) c.5117A>T (p.Glu1706Val) c.5027A>T (p.Glu1676Val) c.4955A>T (p.Glu1652Val) c.5039A>T (p.Glu1680Val) c.4868A>T (p.Glu1623Val) c.11540A>T (p.Glu3847Val) c.11426A>T (p.Glu3809Val) c.11396A>T (p.Glu3799Val) c.11459A>T (p.Glu3820Val) c.11189A>T (p.Glu3730Val) c.4949A>T (p.Glu1650Val) c.4994A>T (p.Glu1665Val) c.5153A>T (p.Glu1718Val) c.5225A>T (p.Glu1742Val) c.4685A>T (p.Glu1562Val) c.5012A>T (p.Glu1671Val) c.7823A>T (p.Glu2608Val) c.1568A>T (p.Glu523Val) c.5033A>T (p.Glu1678Val) | |
4 | g.113369619G>A | CA440835574 | ANK2 | c.11565G>A (p.Glu3855=) c.5250G>A (p.Glu1750=) c.1851G>A (p.Glu617=) c.2349G>A (p.Glu783=) n.2806G>A n.2014G>A n.2758G>A n.1587G>A n.3549G>A n.1530G>A n.1923G>A n.8269G>A n.2895G>A n.879G>A n.3313G>A n.1528G>A c.11424G>A (p.Glu3808=) c.11262G>A (p.Glu3754=) c.2556G>A (p.Glu852=) c.879G>A (p.Glu293=) c.4983G>A (p.Glu1661=) c.5070G>A (p.Glu1690=) c.5007G>A (p.Glu1669=) c.5205G>A (p.Glu1735=) c.5106G>A (p.Glu1702=) c.11298G>A (p.Glu3766=) c.4908G>A (p.Glu1636=) c.*662G>A (n.*662G>A) c.11241G>A (p.Glu3747=) c.4785G>A (p.Glu1595=) c.11238G>A (p.Glu3746=) c.4884G>A (p.Glu1628=) c.11469G>A (p.Glu3823=) c.5019G>A (p.Glu1673=) c.5004G>A (p.Glu1668=) c.11505G>A (p.Glu3835=) c.4992G>A (p.Glu1664=) c.11226G>A (p.Glu3742=) c.4944G>A (p.Glu1648=) c.5142G>A (p.Glu1714=) c.2733G>A (p.Glu911=) c.11325G>A (p.Glu3775=) c.5214G>A (p.Glu1738=) c.11361G>A (p.Glu3787=) c.4971G>A (p.Glu1657=) c.11163G>A (p.Glu3721=) c.5043G>A (p.Glu1681=) c.4587G>A (p.Glu1529=) c.2718G>A (p.Glu906=) c.11139G>A (p.Glu3713=) c.2697G>A (p.Glu899=) c.11370G>A (p.Glu3790=) c.4935G>A (p.Glu1645=) c.4677G>A (p.Glu1559=) c.11199G>A (p.Glu3733=) c.5169G>A (p.Glu1723=) c.2454G>A (p.Glu818=) c.1125G>A (p.Glu375=) c.2173G>A c.*2785G>A (n.*2785G>A) c.11457G>A (p.Glu3819=) c.5166G>A (p.Glu1722=) c.11511G>A (p.Glu3837=) c.11475G>A (p.Glu3825=) c.5223G>A (p.Glu1741=) c.5256G>A (p.Glu1752=) c.5187G>A (p.Glu1729=) c.11451G>A (p.Glu3817=) c.11496G>A (p.Glu3832=) c.5181G>A (p.Glu1727=) c.5148G>A (p.Glu1716=) c.5211G>A (p.Glu1737=) c.5067G>A (p.Glu1689=) c.5247G>A (p.Glu1749=) c.5139G>A (p.Glu1713=) c.5103G>A (p.Glu1701=) c.5118G>A (p.Glu1706=) c.5028G>A (p.Glu1676=) c.4956G>A (p.Glu1652=) c.5040G>A (p.Glu1680=) c.4869G>A (p.Glu1623=) c.11541G>A (p.Glu3847=) c.11427G>A (p.Glu3809=) c.11397G>A (p.Glu3799=) c.11460G>A (p.Glu3820=) c.11190G>A (p.Glu3730=) c.4950G>A (p.Glu1650=) c.4995G>A (p.Glu1665=) c.5154G>A (p.Glu1718=) c.5226G>A (p.Glu1742=) c.4686G>A (p.Glu1562=) c.5013G>A (p.Glu1671=) c.7824G>A (p.Glu2608=) c.1569G>A (p.Glu523=) c.5034G>A (p.Glu1678=) | dbSNP |
4 | g.113369619G>C | CA357942690 | ANK2 | c.11565G>C (p.Glu3855Asp) c.5250G>C (p.Glu1750Asp) c.1851G>C (p.Glu617Asp) c.2349G>C (p.Glu783Asp) n.2806G>C n.2014G>C n.2758G>C n.1587G>C n.3549G>C n.1530G>C n.1923G>C n.8269G>C n.2895G>C n.879G>C n.3313G>C n.1528G>C c.11424G>C (p.Glu3808Asp) c.11262G>C (p.Glu3754Asp) c.2556G>C (p.Glu852Asp) c.879G>C (p.Glu293Asp) c.4983G>C (p.Glu1661Asp) c.5070G>C (p.Glu1690Asp) c.5007G>C (p.Glu1669Asp) c.5205G>C (p.Glu1735Asp) c.5106G>C (p.Glu1702Asp) c.11298G>C (p.Glu3766Asp) c.4908G>C (p.Glu1636Asp) c.*662G>C (n.*662G>C) c.11241G>C (p.Glu3747Asp) c.4785G>C (p.Glu1595Asp) c.11238G>C (p.Glu3746Asp) c.4884G>C (p.Glu1628Asp) c.11469G>C (p.Glu3823Asp) c.5019G>C (p.Glu1673Asp) c.5004G>C (p.Glu1668Asp) c.11505G>C (p.Glu3835Asp) c.4992G>C (p.Glu1664Asp) c.11226G>C (p.Glu3742Asp) c.4944G>C (p.Glu1648Asp) c.5142G>C (p.Glu1714Asp) c.2733G>C (p.Glu911Asp) c.11325G>C (p.Glu3775Asp) c.5214G>C (p.Glu1738Asp) c.11361G>C (p.Glu3787Asp) c.4971G>C (p.Glu1657Asp) c.11163G>C (p.Glu3721Asp) c.5043G>C (p.Glu1681Asp) c.4587G>C (p.Glu1529Asp) c.2718G>C (p.Glu906Asp) c.11139G>C (p.Glu3713Asp) c.2697G>C (p.Glu899Asp) c.11370G>C (p.Glu3790Asp) c.4935G>C (p.Glu1645Asp) c.4677G>C (p.Glu1559Asp) c.11199G>C (p.Glu3733Asp) c.5169G>C (p.Glu1723Asp) c.2454G>C (p.Glu818Asp) c.1125G>C (p.Glu375Asp) c.2173G>C c.*2785G>C (n.*2785G>C) c.11457G>C (p.Glu3819Asp) c.5166G>C (p.Glu1722Asp) c.11511G>C (p.Glu3837Asp) c.11475G>C (p.Glu3825Asp) c.5223G>C (p.Glu1741Asp) c.5256G>C (p.Glu1752Asp) c.5187G>C (p.Glu1729Asp) c.11451G>C (p.Glu3817Asp) c.11496G>C (p.Glu3832Asp) c.5181G>C (p.Glu1727Asp) c.5148G>C (p.Glu1716Asp) c.5211G>C (p.Glu1737Asp) c.5067G>C (p.Glu1689Asp) c.5247G>C (p.Glu1749Asp) c.5139G>C (p.Glu1713Asp) c.5103G>C (p.Glu1701Asp) c.5118G>C (p.Glu1706Asp) c.5028G>C (p.Glu1676Asp) c.4956G>C (p.Glu1652Asp) c.5040G>C (p.Glu1680Asp) c.4869G>C (p.Glu1623Asp) c.11541G>C (p.Glu3847Asp) c.11427G>C (p.Glu3809Asp) c.11397G>C (p.Glu3799Asp) c.11460G>C (p.Glu3820Asp) c.11190G>C (p.Glu3730Asp) c.4950G>C (p.Glu1650Asp) c.4995G>C (p.Glu1665Asp) c.5154G>C (p.Glu1718Asp) c.5226G>C (p.Glu1742Asp) c.4686G>C (p.Glu1562Asp) c.5013G>C (p.Glu1671Asp) c.7824G>C (p.Glu2608Asp) c.1569G>C (p.Glu523Asp) c.5034G>C (p.Glu1678Asp) | dbSNP |
4 | g.113369619G>T | CA357942689 | ANK2 | c.11565G>T (p.Glu3855Asp) c.5250G>T (p.Glu1750Asp) c.1851G>T (p.Glu617Asp) c.2349G>T (p.Glu783Asp) n.2806G>T n.2014G>T n.2758G>T n.1587G>T n.3549G>T n.1530G>T n.1923G>T n.8269G>T n.2895G>T n.879G>T n.3313G>T n.1528G>T c.11424G>T (p.Glu3808Asp) c.11262G>T (p.Glu3754Asp) c.2556G>T (p.Glu852Asp) c.879G>T (p.Glu293Asp) c.4983G>T (p.Glu1661Asp) c.5070G>T (p.Glu1690Asp) c.5007G>T (p.Glu1669Asp) c.5205G>T (p.Glu1735Asp) c.5106G>T (p.Glu1702Asp) c.11298G>T (p.Glu3766Asp) c.4908G>T (p.Glu1636Asp) c.*662G>T (n.*662G>T) c.11241G>T (p.Glu3747Asp) c.4785G>T (p.Glu1595Asp) c.11238G>T (p.Glu3746Asp) c.4884G>T (p.Glu1628Asp) c.11469G>T (p.Glu3823Asp) c.5019G>T (p.Glu1673Asp) c.5004G>T (p.Glu1668Asp) c.11505G>T (p.Glu3835Asp) c.4992G>T (p.Glu1664Asp) c.11226G>T (p.Glu3742Asp) c.4944G>T (p.Glu1648Asp) c.5142G>T (p.Glu1714Asp) c.2733G>T (p.Glu911Asp) c.11325G>T (p.Glu3775Asp) c.5214G>T (p.Glu1738Asp) c.11361G>T (p.Glu3787Asp) c.4971G>T (p.Glu1657Asp) c.11163G>T (p.Glu3721Asp) c.5043G>T (p.Glu1681Asp) c.4587G>T (p.Glu1529Asp) c.2718G>T (p.Glu906Asp) c.11139G>T (p.Glu3713Asp) c.2697G>T (p.Glu899Asp) c.11370G>T (p.Glu3790Asp) c.4935G>T (p.Glu1645Asp) c.4677G>T (p.Glu1559Asp) c.11199G>T (p.Glu3733Asp) c.5169G>T (p.Glu1723Asp) c.2454G>T (p.Glu818Asp) c.1125G>T (p.Glu375Asp) c.2173G>T c.*2785G>T (n.*2785G>T) c.11457G>T (p.Glu3819Asp) c.5166G>T (p.Glu1722Asp) c.11511G>T (p.Glu3837Asp) c.11475G>T (p.Glu3825Asp) c.5223G>T (p.Glu1741Asp) c.5256G>T (p.Glu1752Asp) c.5187G>T (p.Glu1729Asp) c.11451G>T (p.Glu3817Asp) c.11496G>T (p.Glu3832Asp) c.5181G>T (p.Glu1727Asp) c.5148G>T (p.Glu1716Asp) c.5211G>T (p.Glu1737Asp) c.5067G>T (p.Glu1689Asp) c.5247G>T (p.Glu1749Asp) c.5139G>T (p.Glu1713Asp) c.5103G>T (p.Glu1701Asp) c.5118G>T (p.Glu1706Asp) c.5028G>T (p.Glu1676Asp) c.4956G>T (p.Glu1652Asp) c.5040G>T (p.Glu1680Asp) c.4869G>T (p.Glu1623Asp) c.11541G>T (p.Glu3847Asp) c.11427G>T (p.Glu3809Asp) c.11397G>T (p.Glu3799Asp) c.11460G>T (p.Glu3820Asp) c.11190G>T (p.Glu3730Asp) c.4950G>T (p.Glu1650Asp) c.4995G>T (p.Glu1665Asp) c.5154G>T (p.Glu1718Asp) c.5226G>T (p.Glu1742Asp) c.4686G>T (p.Glu1562Asp) c.5013G>T (p.Glu1671Asp) c.7824G>T (p.Glu2608Asp) c.1569G>T (p.Glu523Asp) c.5034G>T (p.Glu1678Asp) | |
4 | g.113369620A>C | CA357942691 | ANK2 | c.11566A>C (p.Lys3856Gln) c.5251A>C (p.Lys1751Gln) c.1852A>C (p.Lys618Gln) c.2350A>C (p.Lys784Gln) n.2807A>C n.2015A>C n.2759A>C n.1588A>C n.3550A>C n.1531A>C n.1924A>C n.8270A>C n.2896A>C n.880A>C n.3314A>C n.1529A>C c.11425A>C (p.Lys3809Gln) c.11263A>C (p.Lys3755Gln) c.2557A>C (p.Lys853Gln) c.880A>C (p.Lys294Gln) c.4984A>C (p.Lys1662Gln) c.5071A>C (p.Lys1691Gln) c.5008A>C (p.Lys1670Gln) c.5206A>C (p.Lys1736Gln) c.5107A>C (p.Lys1703Gln) c.11299A>C (p.Lys3767Gln) c.4909A>C (p.Lys1637Gln) c.*663A>C (n.*663A>C) c.11242A>C (p.Lys3748Gln) c.4786A>C (p.Lys1596Gln) c.11239A>C (p.Lys3747Gln) c.4885A>C (p.Lys1629Gln) c.11470A>C (p.Lys3824Gln) c.5020A>C (p.Lys1674Gln) c.5005A>C (p.Lys1669Gln) c.11506A>C (p.Lys3836Gln) c.4993A>C (p.Lys1665Gln) c.11227A>C (p.Lys3743Gln) c.4945A>C (p.Lys1649Gln) c.5143A>C (p.Lys1715Gln) c.2734A>C (p.Lys912Gln) c.11326A>C (p.Lys3776Gln) c.5215A>C (p.Lys1739Gln) c.11362A>C (p.Lys3788Gln) c.4972A>C (p.Lys1658Gln) c.11164A>C (p.Lys3722Gln) c.5044A>C (p.Lys1682Gln) c.4588A>C (p.Lys1530Gln) c.2719A>C (p.Lys907Gln) c.11140A>C (p.Lys3714Gln) c.2698A>C (p.Lys900Gln) c.11371A>C (p.Lys3791Gln) c.4936A>C (p.Lys1646Gln) c.4678A>C (p.Lys1560Gln) c.11200A>C (p.Lys3734Gln) c.5170A>C (p.Lys1724Gln) c.2455A>C (p.Lys819Gln) c.1126A>C (p.Lys376Gln) c.2174A>C c.*2786A>C (n.*2786A>C) c.11458A>C (p.Lys3820Gln) c.5167A>C (p.Lys1723Gln) c.11512A>C (p.Lys3838Gln) c.11476A>C (p.Lys3826Gln) c.5224A>C (p.Lys1742Gln) c.5257A>C (p.Lys1753Gln) c.5188A>C (p.Lys1730Gln) c.11452A>C (p.Lys3818Gln) c.11497A>C (p.Lys3833Gln) c.5182A>C (p.Lys1728Gln) c.5149A>C (p.Lys1717Gln) c.5212A>C (p.Lys1738Gln) c.5068A>C (p.Lys1690Gln) c.5248A>C (p.Lys1750Gln) c.5140A>C (p.Lys1714Gln) c.5104A>C (p.Lys1702Gln) c.5119A>C (p.Lys1707Gln) c.5029A>C (p.Lys1677Gln) c.4957A>C (p.Lys1653Gln) c.5041A>C (p.Lys1681Gln) c.4870A>C (p.Lys1624Gln) c.11542A>C (p.Lys3848Gln) c.11428A>C (p.Lys3810Gln) c.11398A>C (p.Lys3800Gln) c.11461A>C (p.Lys3821Gln) c.11191A>C (p.Lys3731Gln) c.4951A>C (p.Lys1651Gln) c.4996A>C (p.Lys1666Gln) c.5155A>C (p.Lys1719Gln) c.5227A>C (p.Lys1743Gln) c.4687A>C (p.Lys1563Gln) c.5014A>C (p.Lys1672Gln) c.7825A>C (p.Lys2609Gln) c.1570A>C (p.Lys524Gln) c.5035A>C (p.Lys1679Gln) | dbSNP |
4 | g.113369620A>G | CA357942693 | ANK2 | c.11566A>G (p.Lys3856Glu) c.5251A>G (p.Lys1751Glu) c.1852A>G (p.Lys618Glu) c.2350A>G (p.Lys784Glu) n.2807A>G n.2015A>G n.2759A>G n.1588A>G n.3550A>G n.1531A>G n.1924A>G n.8270A>G n.2896A>G n.880A>G n.3314A>G n.1529A>G c.11425A>G (p.Lys3809Glu) c.11263A>G (p.Lys3755Glu) c.2557A>G (p.Lys853Glu) c.880A>G (p.Lys294Glu) c.4984A>G (p.Lys1662Glu) c.5071A>G (p.Lys1691Glu) c.5008A>G (p.Lys1670Glu) c.5206A>G (p.Lys1736Glu) c.5107A>G (p.Lys1703Glu) c.11299A>G (p.Lys3767Glu) c.4909A>G (p.Lys1637Glu) c.*663A>G (n.*663A>G) c.11242A>G (p.Lys3748Glu) c.4786A>G (p.Lys1596Glu) c.11239A>G (p.Lys3747Glu) c.4885A>G (p.Lys1629Glu) c.11470A>G (p.Lys3824Glu) c.5020A>G (p.Lys1674Glu) c.5005A>G (p.Lys1669Glu) c.11506A>G (p.Lys3836Glu) c.4993A>G (p.Lys1665Glu) c.11227A>G (p.Lys3743Glu) c.4945A>G (p.Lys1649Glu) c.5143A>G (p.Lys1715Glu) c.2734A>G (p.Lys912Glu) c.11326A>G (p.Lys3776Glu) c.5215A>G (p.Lys1739Glu) c.11362A>G (p.Lys3788Glu) c.4972A>G (p.Lys1658Glu) c.11164A>G (p.Lys3722Glu) c.5044A>G (p.Lys1682Glu) c.4588A>G (p.Lys1530Glu) c.2719A>G (p.Lys907Glu) c.11140A>G (p.Lys3714Glu) c.2698A>G (p.Lys900Glu) c.11371A>G (p.Lys3791Glu) c.4936A>G (p.Lys1646Glu) c.4678A>G (p.Lys1560Glu) c.11200A>G (p.Lys3734Glu) c.5170A>G (p.Lys1724Glu) c.2455A>G (p.Lys819Glu) c.1126A>G (p.Lys376Glu) c.2174A>G c.*2786A>G (n.*2786A>G) c.11458A>G (p.Lys3820Glu) c.5167A>G (p.Lys1723Glu) c.11512A>G (p.Lys3838Glu) c.11476A>G (p.Lys3826Glu) c.5224A>G (p.Lys1742Glu) c.5257A>G (p.Lys1753Glu) c.5188A>G (p.Lys1730Glu) c.11452A>G (p.Lys3818Glu) c.11497A>G (p.Lys3833Glu) c.5182A>G (p.Lys1728Glu) c.5149A>G (p.Lys1717Glu) c.5212A>G (p.Lys1738Glu) c.5068A>G (p.Lys1690Glu) c.5248A>G (p.Lys1750Glu) c.5140A>G (p.Lys1714Glu) c.5104A>G (p.Lys1702Glu) c.5119A>G (p.Lys1707Glu) c.5029A>G (p.Lys1677Glu) c.4957A>G (p.Lys1653Glu) c.5041A>G (p.Lys1681Glu) c.4870A>G (p.Lys1624Glu) c.11542A>G (p.Lys3848Glu) c.11428A>G (p.Lys3810Glu) c.11398A>G (p.Lys3800Glu) c.11461A>G (p.Lys3821Glu) c.11191A>G (p.Lys3731Glu) c.4951A>G (p.Lys1651Glu) c.4996A>G (p.Lys1666Glu) c.5155A>G (p.Lys1719Glu) c.5227A>G (p.Lys1743Glu) c.4687A>G (p.Lys1563Glu) c.5014A>G (p.Lys1672Glu) c.7825A>G (p.Lys2609Glu) c.1570A>G (p.Lys524Glu) c.5035A>G (p.Lys1679Glu) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.113369620A>T | CA357942692 | ANK2 | c.11566A>T (p.Lys3856Ter) c.5251A>T (p.Lys1751Ter) c.1852A>T (p.Lys618Ter) c.2350A>T (p.Lys784Ter) n.2807A>T n.2015A>T n.2759A>T n.1588A>T n.3550A>T n.1531A>T n.1924A>T n.8270A>T n.2896A>T n.880A>T n.3314A>T n.1529A>T c.11425A>T (p.Lys3809Ter) c.11263A>T (p.Lys3755Ter) c.2557A>T (p.Lys853Ter) c.880A>T (p.Lys294Ter) c.4984A>T (p.Lys1662Ter) c.5071A>T (p.Lys1691Ter) c.5008A>T (p.Lys1670Ter) c.5206A>T (p.Lys1736Ter) c.5107A>T (p.Lys1703Ter) c.11299A>T (p.Lys3767Ter) c.4909A>T (p.Lys1637Ter) c.*663A>T (n.*663A>T) c.11242A>T (p.Lys3748Ter) c.4786A>T (p.Lys1596Ter) c.11239A>T (p.Lys3747Ter) c.4885A>T (p.Lys1629Ter) c.11470A>T (p.Lys3824Ter) c.5020A>T (p.Lys1674Ter) c.5005A>T (p.Lys1669Ter) c.11506A>T (p.Lys3836Ter) c.4993A>T (p.Lys1665Ter) c.11227A>T (p.Lys3743Ter) c.4945A>T (p.Lys1649Ter) c.5143A>T (p.Lys1715Ter) c.2734A>T (p.Lys912Ter) c.11326A>T (p.Lys3776Ter) c.5215A>T (p.Lys1739Ter) c.11362A>T (p.Lys3788Ter) c.4972A>T (p.Lys1658Ter) c.11164A>T (p.Lys3722Ter) c.5044A>T (p.Lys1682Ter) c.4588A>T (p.Lys1530Ter) c.2719A>T (p.Lys907Ter) c.11140A>T (p.Lys3714Ter) c.2698A>T (p.Lys900Ter) c.11371A>T (p.Lys3791Ter) c.4936A>T (p.Lys1646Ter) c.4678A>T (p.Lys1560Ter) c.11200A>T (p.Lys3734Ter) c.5170A>T (p.Lys1724Ter) c.2455A>T (p.Lys819Ter) c.1126A>T (p.Lys376Ter) c.2174A>T c.*2786A>T (n.*2786A>T) c.11458A>T (p.Lys3820Ter) c.5167A>T (p.Lys1723Ter) c.11512A>T (p.Lys3838Ter) c.11476A>T (p.Lys3826Ter) c.5224A>T (p.Lys1742Ter) c.5257A>T (p.Lys1753Ter) c.5188A>T (p.Lys1730Ter) c.11452A>T (p.Lys3818Ter) c.11497A>T (p.Lys3833Ter) c.5182A>T (p.Lys1728Ter) c.5149A>T (p.Lys1717Ter) c.5212A>T (p.Lys1738Ter) c.5068A>T (p.Lys1690Ter) c.5248A>T (p.Lys1750Ter) c.5140A>T (p.Lys1714Ter) c.5104A>T (p.Lys1702Ter) c.5119A>T (p.Lys1707Ter) c.5029A>T (p.Lys1677Ter) c.4957A>T (p.Lys1653Ter) c.5041A>T (p.Lys1681Ter) c.4870A>T (p.Lys1624Ter) c.11542A>T (p.Lys3848Ter) c.11428A>T (p.Lys3810Ter) c.11398A>T (p.Lys3800Ter) c.11461A>T (p.Lys3821Ter) c.11191A>T (p.Lys3731Ter) c.4951A>T (p.Lys1651Ter) c.4996A>T (p.Lys1666Ter) c.5155A>T (p.Lys1719Ter) c.5227A>T (p.Lys1743Ter) c.4687A>T (p.Lys1563Ter) c.5014A>T (p.Lys1672Ter) c.7825A>T (p.Lys2609Ter) c.1570A>T (p.Lys524Ter) c.5035A>T (p.Lys1679Ter) | dbSNP |
4 | g.113369621A>C | CA357942694 | ANK2 | c.11567A>C (p.Lys3856Thr) c.5252A>C (p.Lys1751Thr) c.1853A>C (p.Lys618Thr) c.2351A>C (p.Lys784Thr) n.2808A>C n.2016A>C n.2760A>C n.1589A>C n.3551A>C n.1532A>C n.1925A>C n.8271A>C n.2897A>C n.881A>C n.3315A>C n.1530A>C c.11426A>C (p.Lys3809Thr) c.11264A>C (p.Lys3755Thr) c.2558A>C (p.Lys853Thr) c.881A>C (p.Lys294Thr) c.4985A>C (p.Lys1662Thr) c.5072A>C (p.Lys1691Thr) c.5009A>C (p.Lys1670Thr) c.5207A>C (p.Lys1736Thr) c.5108A>C (p.Lys1703Thr) c.11300A>C (p.Lys3767Thr) c.4910A>C (p.Lys1637Thr) c.*664A>C (n.*664A>C) c.11243A>C (p.Lys3748Thr) c.4787A>C (p.Lys1596Thr) c.11240A>C (p.Lys3747Thr) c.4886A>C (p.Lys1629Thr) c.11471A>C (p.Lys3824Thr) c.5021A>C (p.Lys1674Thr) c.5006A>C (p.Lys1669Thr) c.11507A>C (p.Lys3836Thr) c.4994A>C (p.Lys1665Thr) c.11228A>C (p.Lys3743Thr) c.4946A>C (p.Lys1649Thr) c.5144A>C (p.Lys1715Thr) c.2735A>C (p.Lys912Thr) c.11327A>C (p.Lys3776Thr) c.5216A>C (p.Lys1739Thr) c.11363A>C (p.Lys3788Thr) c.4973A>C (p.Lys1658Thr) c.11165A>C (p.Lys3722Thr) c.5045A>C (p.Lys1682Thr) c.4589A>C (p.Lys1530Thr) c.2720A>C (p.Lys907Thr) c.11141A>C (p.Lys3714Thr) c.2699A>C (p.Lys900Thr) c.11372A>C (p.Lys3791Thr) c.4937A>C (p.Lys1646Thr) c.4679A>C (p.Lys1560Thr) c.11201A>C (p.Lys3734Thr) c.5171A>C (p.Lys1724Thr) c.2456A>C (p.Lys819Thr) c.1127A>C (p.Lys376Thr) c.2175A>C c.*2787A>C (n.*2787A>C) c.11459A>C (p.Lys3820Thr) c.5168A>C (p.Lys1723Thr) c.11513A>C (p.Lys3838Thr) c.11477A>C (p.Lys3826Thr) c.5225A>C (p.Lys1742Thr) c.5258A>C (p.Lys1753Thr) c.5189A>C (p.Lys1730Thr) c.11453A>C (p.Lys3818Thr) c.11498A>C (p.Lys3833Thr) c.5183A>C (p.Lys1728Thr) c.5150A>C (p.Lys1717Thr) c.5213A>C (p.Lys1738Thr) c.5069A>C (p.Lys1690Thr) c.5249A>C (p.Lys1750Thr) c.5141A>C (p.Lys1714Thr) c.5105A>C (p.Lys1702Thr) c.5120A>C (p.Lys1707Thr) c.5030A>C (p.Lys1677Thr) c.4958A>C (p.Lys1653Thr) c.5042A>C (p.Lys1681Thr) c.4871A>C (p.Lys1624Thr) c.11543A>C (p.Lys3848Thr) c.11429A>C (p.Lys3810Thr) c.11399A>C (p.Lys3800Thr) c.11462A>C (p.Lys3821Thr) c.11192A>C (p.Lys3731Thr) c.4952A>C (p.Lys1651Thr) c.4997A>C (p.Lys1666Thr) c.5156A>C (p.Lys1719Thr) c.5228A>C (p.Lys1743Thr) c.4688A>C (p.Lys1563Thr) c.5015A>C (p.Lys1672Thr) c.7826A>C (p.Lys2609Thr) c.1571A>C (p.Lys524Thr) c.5036A>C (p.Lys1679Thr) | |
4 | g.113369621A>G | CA357942696 | ANK2 | c.11567A>G (p.Lys3856Arg) c.5252A>G (p.Lys1751Arg) c.1853A>G (p.Lys618Arg) c.2351A>G (p.Lys784Arg) n.2808A>G n.2016A>G n.2760A>G n.1589A>G n.3551A>G n.1532A>G n.1925A>G n.8271A>G n.2897A>G n.881A>G n.3315A>G n.1530A>G c.11426A>G (p.Lys3809Arg) c.11264A>G (p.Lys3755Arg) c.2558A>G (p.Lys853Arg) c.881A>G (p.Lys294Arg) c.4985A>G (p.Lys1662Arg) c.5072A>G (p.Lys1691Arg) c.5009A>G (p.Lys1670Arg) c.5207A>G (p.Lys1736Arg) c.5108A>G (p.Lys1703Arg) c.11300A>G (p.Lys3767Arg) c.4910A>G (p.Lys1637Arg) c.*664A>G (n.*664A>G) c.11243A>G (p.Lys3748Arg) c.4787A>G (p.Lys1596Arg) c.11240A>G (p.Lys3747Arg) c.4886A>G (p.Lys1629Arg) c.11471A>G (p.Lys3824Arg) c.5021A>G (p.Lys1674Arg) c.5006A>G (p.Lys1669Arg) c.11507A>G (p.Lys3836Arg) c.4994A>G (p.Lys1665Arg) c.11228A>G (p.Lys3743Arg) c.4946A>G (p.Lys1649Arg) c.5144A>G (p.Lys1715Arg) c.2735A>G (p.Lys912Arg) c.11327A>G (p.Lys3776Arg) c.5216A>G (p.Lys1739Arg) c.11363A>G (p.Lys3788Arg) c.4973A>G (p.Lys1658Arg) c.11165A>G (p.Lys3722Arg) c.5045A>G (p.Lys1682Arg) c.4589A>G (p.Lys1530Arg) c.2720A>G (p.Lys907Arg) c.11141A>G (p.Lys3714Arg) c.2699A>G (p.Lys900Arg) c.11372A>G (p.Lys3791Arg) c.4937A>G (p.Lys1646Arg) c.4679A>G (p.Lys1560Arg) c.11201A>G (p.Lys3734Arg) c.5171A>G (p.Lys1724Arg) c.2456A>G (p.Lys819Arg) c.1127A>G (p.Lys376Arg) c.2175A>G c.*2787A>G (n.*2787A>G) c.11459A>G (p.Lys3820Arg) c.5168A>G (p.Lys1723Arg) c.11513A>G (p.Lys3838Arg) c.11477A>G (p.Lys3826Arg) c.5225A>G (p.Lys1742Arg) c.5258A>G (p.Lys1753Arg) c.5189A>G (p.Lys1730Arg) c.11453A>G (p.Lys3818Arg) c.11498A>G (p.Lys3833Arg) c.5183A>G (p.Lys1728Arg) c.5150A>G (p.Lys1717Arg) c.5213A>G (p.Lys1738Arg) c.5069A>G (p.Lys1690Arg) c.5249A>G (p.Lys1750Arg) c.5141A>G (p.Lys1714Arg) c.5105A>G (p.Lys1702Arg) c.5120A>G (p.Lys1707Arg) c.5030A>G (p.Lys1677Arg) c.4958A>G (p.Lys1653Arg) c.5042A>G (p.Lys1681Arg) c.4871A>G (p.Lys1624Arg) c.11543A>G (p.Lys3848Arg) c.11429A>G (p.Lys3810Arg) c.11399A>G (p.Lys3800Arg) c.11462A>G (p.Lys3821Arg) c.11192A>G (p.Lys3731Arg) c.4952A>G (p.Lys1651Arg) c.4997A>G (p.Lys1666Arg) c.5156A>G (p.Lys1719Arg) c.5228A>G (p.Lys1743Arg) c.4688A>G (p.Lys1563Arg) c.5015A>G (p.Lys1672Arg) c.7826A>G (p.Lys2609Arg) c.1571A>G (p.Lys524Arg) c.5036A>G (p.Lys1679Arg) | dbSNP |
4 | g.113369621A>T | CA357942695 | ANK2 | c.11567A>T (p.Lys3856Met) c.5252A>T (p.Lys1751Met) c.1853A>T (p.Lys618Met) c.2351A>T (p.Lys784Met) n.2808A>T n.2016A>T n.2760A>T n.1589A>T n.3551A>T n.1532A>T n.1925A>T n.8271A>T n.2897A>T n.881A>T n.3315A>T n.1530A>T c.11426A>T (p.Lys3809Met) c.11264A>T (p.Lys3755Met) c.2558A>T (p.Lys853Met) c.881A>T (p.Lys294Met) c.4985A>T (p.Lys1662Met) c.5072A>T (p.Lys1691Met) c.5009A>T (p.Lys1670Met) c.5207A>T (p.Lys1736Met) c.5108A>T (p.Lys1703Met) c.11300A>T (p.Lys3767Met) c.4910A>T (p.Lys1637Met) c.*664A>T (n.*664A>T) c.11243A>T (p.Lys3748Met) c.4787A>T (p.Lys1596Met) c.11240A>T (p.Lys3747Met) c.4886A>T (p.Lys1629Met) c.11471A>T (p.Lys3824Met) c.5021A>T (p.Lys1674Met) c.5006A>T (p.Lys1669Met) c.11507A>T (p.Lys3836Met) c.4994A>T (p.Lys1665Met) c.11228A>T (p.Lys3743Met) c.4946A>T (p.Lys1649Met) c.5144A>T (p.Lys1715Met) c.2735A>T (p.Lys912Met) c.11327A>T (p.Lys3776Met) c.5216A>T (p.Lys1739Met) c.11363A>T (p.Lys3788Met) c.4973A>T (p.Lys1658Met) c.11165A>T (p.Lys3722Met) c.5045A>T (p.Lys1682Met) c.4589A>T (p.Lys1530Met) c.2720A>T (p.Lys907Met) c.11141A>T (p.Lys3714Met) c.2699A>T (p.Lys900Met) c.11372A>T (p.Lys3791Met) c.4937A>T (p.Lys1646Met) c.4679A>T (p.Lys1560Met) c.11201A>T (p.Lys3734Met) c.5171A>T (p.Lys1724Met) c.2456A>T (p.Lys819Met) c.1127A>T (p.Lys376Met) c.2175A>T c.*2787A>T (n.*2787A>T) c.11459A>T (p.Lys3820Met) c.5168A>T (p.Lys1723Met) c.11513A>T (p.Lys3838Met) c.11477A>T (p.Lys3826Met) c.5225A>T (p.Lys1742Met) c.5258A>T (p.Lys1753Met) c.5189A>T (p.Lys1730Met) c.11453A>T (p.Lys3818Met) c.11498A>T (p.Lys3833Met) c.5183A>T (p.Lys1728Met) c.5150A>T (p.Lys1717Met) c.5213A>T (p.Lys1738Met) c.5069A>T (p.Lys1690Met) c.5249A>T (p.Lys1750Met) c.5141A>T (p.Lys1714Met) c.5105A>T (p.Lys1702Met) c.5120A>T (p.Lys1707Met) c.5030A>T (p.Lys1677Met) c.4958A>T (p.Lys1653Met) c.5042A>T (p.Lys1681Met) c.4871A>T (p.Lys1624Met) c.11543A>T (p.Lys3848Met) c.11429A>T (p.Lys3810Met) c.11399A>T (p.Lys3800Met) c.11462A>T (p.Lys3821Met) c.11192A>T (p.Lys3731Met) c.4952A>T (p.Lys1651Met) c.4997A>T (p.Lys1666Met) c.5156A>T (p.Lys1719Met) c.5228A>T (p.Lys1743Met) c.4688A>T (p.Lys1563Met) c.5015A>T (p.Lys1672Met) c.7826A>T (p.Lys2609Met) c.1571A>T (p.Lys524Met) c.5036A>T (p.Lys1679Met) | dbSNP |
4 | g.113369622G>A | CA440835575 | ANK2 | c.11568G>A (p.Lys3856=) c.5253G>A (p.Lys1751=) c.1854G>A (p.Lys618=) c.2352G>A (p.Lys784=) n.2809G>A n.2017G>A n.2761G>A n.1590G>A n.3552G>A n.1533G>A n.1926G>A n.8272G>A n.2898G>A n.882G>A n.3316G>A n.1531G>A c.11427G>A (p.Lys3809=) c.11265G>A (p.Lys3755=) c.2559G>A (p.Lys853=) c.882G>A (p.Lys294=) c.4986G>A (p.Lys1662=) c.5073G>A (p.Lys1691=) c.5010G>A (p.Lys1670=) c.5208G>A (p.Lys1736=) c.5109G>A (p.Lys1703=) c.11301G>A (p.Lys3767=) c.4911G>A (p.Lys1637=) c.*665G>A (n.*665G>A) c.11244G>A (p.Lys3748=) c.4788G>A (p.Lys1596=) c.11241G>A (p.Lys3747=) c.4887G>A (p.Lys1629=) c.11472G>A (p.Lys3824=) c.5022G>A (p.Lys1674=) c.5007G>A (p.Lys1669=) c.11508G>A (p.Lys3836=) c.4995G>A (p.Lys1665=) c.11229G>A (p.Lys3743=) c.4947G>A (p.Lys1649=) c.5145G>A (p.Lys1715=) c.2736G>A (p.Lys912=) c.11328G>A (p.Lys3776=) c.5217G>A (p.Lys1739=) c.11364G>A (p.Lys3788=) c.4974G>A (p.Lys1658=) c.11166G>A (p.Lys3722=) c.5046G>A (p.Lys1682=) c.4590G>A (p.Lys1530=) c.2721G>A (p.Lys907=) c.11142G>A (p.Lys3714=) c.2700G>A (p.Lys900=) c.11373G>A (p.Lys3791=) c.4938G>A (p.Lys1646=) c.4680G>A (p.Lys1560=) c.11202G>A (p.Lys3734=) c.5172G>A (p.Lys1724=) c.2457G>A (p.Lys819=) c.1128G>A (p.Lys376=) c.2176G>A c.*2788G>A (n.*2788G>A) c.11460G>A (p.Lys3820=) c.5169G>A (p.Lys1723=) c.11514G>A (p.Lys3838=) c.11478G>A (p.Lys3826=) c.5226G>A (p.Lys1742=) c.5259G>A (p.Lys1753=) c.5190G>A (p.Lys1730=) c.11454G>A (p.Lys3818=) c.11499G>A (p.Lys3833=) c.5184G>A (p.Lys1728=) c.5151G>A (p.Lys1717=) c.5214G>A (p.Lys1738=) c.5070G>A (p.Lys1690=) c.5250G>A (p.Lys1750=) c.5142G>A (p.Lys1714=) c.5106G>A (p.Lys1702=) c.5121G>A (p.Lys1707=) c.5031G>A (p.Lys1677=) c.4959G>A (p.Lys1653=) c.5043G>A (p.Lys1681=) c.4872G>A (p.Lys1624=) c.11544G>A (p.Lys3848=) c.11430G>A (p.Lys3810=) c.11400G>A (p.Lys3800=) c.11463G>A (p.Lys3821=) c.11193G>A (p.Lys3731=) c.4953G>A (p.Lys1651=) c.4998G>A (p.Lys1666=) c.5157G>A (p.Lys1719=) c.5229G>A (p.Lys1743=) c.4689G>A (p.Lys1563=) c.5016G>A (p.Lys1672=) c.7827G>A (p.Lys2609=) c.1572G>A (p.Lys524=) c.5037G>A (p.Lys1679=) | dbSNP |
4 | g.113369622G>C | CA357942697 | ANK2 | c.11568G>C (p.Lys3856Asn) c.5253G>C (p.Lys1751Asn) c.1854G>C (p.Lys618Asn) c.2352G>C (p.Lys784Asn) n.2809G>C n.2017G>C n.2761G>C n.1590G>C n.3552G>C n.1533G>C n.1926G>C n.8272G>C n.2898G>C n.882G>C n.3316G>C n.1531G>C c.11427G>C (p.Lys3809Asn) c.11265G>C (p.Lys3755Asn) c.2559G>C (p.Lys853Asn) c.882G>C (p.Lys294Asn) c.4986G>C (p.Lys1662Asn) c.5073G>C (p.Lys1691Asn) c.5010G>C (p.Lys1670Asn) c.5208G>C (p.Lys1736Asn) c.5109G>C (p.Lys1703Asn) c.11301G>C (p.Lys3767Asn) c.4911G>C (p.Lys1637Asn) c.*665G>C (n.*665G>C) c.11244G>C (p.Lys3748Asn) c.4788G>C (p.Lys1596Asn) c.11241G>C (p.Lys3747Asn) c.4887G>C (p.Lys1629Asn) c.11472G>C (p.Lys3824Asn) c.5022G>C (p.Lys1674Asn) c.5007G>C (p.Lys1669Asn) c.11508G>C (p.Lys3836Asn) c.4995G>C (p.Lys1665Asn) c.11229G>C (p.Lys3743Asn) c.4947G>C (p.Lys1649Asn) c.5145G>C (p.Lys1715Asn) c.2736G>C (p.Lys912Asn) c.11328G>C (p.Lys3776Asn) c.5217G>C (p.Lys1739Asn) c.11364G>C (p.Lys3788Asn) c.4974G>C (p.Lys1658Asn) c.11166G>C (p.Lys3722Asn) c.5046G>C (p.Lys1682Asn) c.4590G>C (p.Lys1530Asn) c.2721G>C (p.Lys907Asn) c.11142G>C (p.Lys3714Asn) c.2700G>C (p.Lys900Asn) c.11373G>C (p.Lys3791Asn) c.4938G>C (p.Lys1646Asn) c.4680G>C (p.Lys1560Asn) c.11202G>C (p.Lys3734Asn) c.5172G>C (p.Lys1724Asn) c.2457G>C (p.Lys819Asn) c.1128G>C (p.Lys376Asn) c.2176G>C c.*2788G>C (n.*2788G>C) c.11460G>C (p.Lys3820Asn) c.5169G>C (p.Lys1723Asn) c.11514G>C (p.Lys3838Asn) c.11478G>C (p.Lys3826Asn) c.5226G>C (p.Lys1742Asn) c.5259G>C (p.Lys1753Asn) c.5190G>C (p.Lys1730Asn) c.11454G>C (p.Lys3818Asn) c.11499G>C (p.Lys3833Asn) c.5184G>C (p.Lys1728Asn) c.5151G>C (p.Lys1717Asn) c.5214G>C (p.Lys1738Asn) c.5070G>C (p.Lys1690Asn) c.5250G>C (p.Lys1750Asn) c.5142G>C (p.Lys1714Asn) c.5106G>C (p.Lys1702Asn) c.5121G>C (p.Lys1707Asn) c.5031G>C (p.Lys1677Asn) c.4959G>C (p.Lys1653Asn) c.5043G>C (p.Lys1681Asn) c.4872G>C (p.Lys1624Asn) c.11544G>C (p.Lys3848Asn) c.11430G>C (p.Lys3810Asn) c.11400G>C (p.Lys3800Asn) c.11463G>C (p.Lys3821Asn) c.11193G>C (p.Lys3731Asn) c.4953G>C (p.Lys1651Asn) c.4998G>C (p.Lys1666Asn) c.5157G>C (p.Lys1719Asn) c.5229G>C (p.Lys1743Asn) c.4689G>C (p.Lys1563Asn) c.5016G>C (p.Lys1672Asn) c.7827G>C (p.Lys2609Asn) c.1572G>C (p.Lys524Asn) c.5037G>C (p.Lys1679Asn) | dbSNP |
4 | g.113369622G>T | CA357942698 | ANK2 | c.11568G>T (p.Lys3856Asn) c.5253G>T (p.Lys1751Asn) c.1854G>T (p.Lys618Asn) c.2352G>T (p.Lys784Asn) n.2809G>T n.2017G>T n.2761G>T n.1590G>T n.3552G>T n.1533G>T n.1926G>T n.8272G>T n.2898G>T n.882G>T n.3316G>T n.1531G>T c.11427G>T (p.Lys3809Asn) c.11265G>T (p.Lys3755Asn) c.2559G>T (p.Lys853Asn) c.882G>T (p.Lys294Asn) c.4986G>T (p.Lys1662Asn) c.5073G>T (p.Lys1691Asn) c.5010G>T (p.Lys1670Asn) c.5208G>T (p.Lys1736Asn) c.5109G>T (p.Lys1703Asn) c.11301G>T (p.Lys3767Asn) c.4911G>T (p.Lys1637Asn) c.*665G>T (n.*665G>T) c.11244G>T (p.Lys3748Asn) c.4788G>T (p.Lys1596Asn) c.11241G>T (p.Lys3747Asn) c.4887G>T (p.Lys1629Asn) c.11472G>T (p.Lys3824Asn) c.5022G>T (p.Lys1674Asn) c.5007G>T (p.Lys1669Asn) c.11508G>T (p.Lys3836Asn) c.4995G>T (p.Lys1665Asn) c.11229G>T (p.Lys3743Asn) c.4947G>T (p.Lys1649Asn) c.5145G>T (p.Lys1715Asn) c.2736G>T (p.Lys912Asn) c.11328G>T (p.Lys3776Asn) c.5217G>T (p.Lys1739Asn) c.11364G>T (p.Lys3788Asn) c.4974G>T (p.Lys1658Asn) c.11166G>T (p.Lys3722Asn) c.5046G>T (p.Lys1682Asn) c.4590G>T (p.Lys1530Asn) c.2721G>T (p.Lys907Asn) c.11142G>T (p.Lys3714Asn) c.2700G>T (p.Lys900Asn) c.11373G>T (p.Lys3791Asn) c.4938G>T (p.Lys1646Asn) c.4680G>T (p.Lys1560Asn) c.11202G>T (p.Lys3734Asn) c.5172G>T (p.Lys1724Asn) c.2457G>T (p.Lys819Asn) c.1128G>T (p.Lys376Asn) c.2176G>T c.*2788G>T (n.*2788G>T) c.11460G>T (p.Lys3820Asn) c.5169G>T (p.Lys1723Asn) c.11514G>T (p.Lys3838Asn) c.11478G>T (p.Lys3826Asn) c.5226G>T (p.Lys1742Asn) c.5259G>T (p.Lys1753Asn) c.5190G>T (p.Lys1730Asn) c.11454G>T (p.Lys3818Asn) c.11499G>T (p.Lys3833Asn) c.5184G>T (p.Lys1728Asn) c.5151G>T (p.Lys1717Asn) c.5214G>T (p.Lys1738Asn) c.5070G>T (p.Lys1690Asn) c.5250G>T (p.Lys1750Asn) c.5142G>T (p.Lys1714Asn) c.5106G>T (p.Lys1702Asn) c.5121G>T (p.Lys1707Asn) c.5031G>T (p.Lys1677Asn) c.4959G>T (p.Lys1653Asn) c.5043G>T (p.Lys1681Asn) c.4872G>T (p.Lys1624Asn) c.11544G>T (p.Lys3848Asn) c.11430G>T (p.Lys3810Asn) c.11400G>T (p.Lys3800Asn) c.11463G>T (p.Lys3821Asn) c.11193G>T (p.Lys3731Asn) c.4953G>T (p.Lys1651Asn) c.4998G>T (p.Lys1666Asn) c.5157G>T (p.Lys1719Asn) c.5229G>T (p.Lys1743Asn) c.4689G>T (p.Lys1563Asn) c.5016G>T (p.Lys1672Asn) c.7827G>T (p.Lys2609Asn) c.1572G>T (p.Lys524Asn) c.5037G>T (p.Lys1679Asn) | gnomAD v4 |
4 | g.113369623C>A | CA357942699 | ANK2 | c.11569C>A (p.Leu3857Met) c.5254C>A (p.Leu1752Met) c.1855C>A (p.Leu619Met) c.2353C>A (p.Leu785Met) n.2810C>A n.2018C>A n.2762C>A n.1591C>A n.3553C>A n.1534C>A n.1927C>A n.8273C>A n.2899C>A n.883C>A n.3317C>A n.1532C>A c.11428C>A (p.Leu3810Met) c.11266C>A (p.Leu3756Met) c.2560C>A (p.Leu854Met) c.883C>A (p.Leu295Met) c.4987C>A (p.Leu1663Met) c.5074C>A (p.Leu1692Met) c.5011C>A (p.Leu1671Met) c.5209C>A (p.Leu1737Met) c.5110C>A (p.Leu1704Met) c.11302C>A (p.Leu3768Met) c.4912C>A (p.Leu1638Met) c.*666C>A (n.*666C>A) c.11245C>A (p.Leu3749Met) c.4789C>A (p.Leu1597Met) c.11242C>A (p.Leu3748Met) c.4888C>A (p.Leu1630Met) c.11473C>A (p.Leu3825Met) c.5023C>A (p.Leu1675Met) c.5008C>A (p.Leu1670Met) c.11509C>A (p.Leu3837Met) c.4996C>A (p.Leu1666Met) c.11230C>A (p.Leu3744Met) c.4948C>A (p.Leu1650Met) c.5146C>A (p.Leu1716Met) c.2737C>A (p.Leu913Met) c.11329C>A (p.Leu3777Met) c.5218C>A (p.Leu1740Met) c.11365C>A (p.Leu3789Met) c.4975C>A (p.Leu1659Met) c.11167C>A (p.Leu3723Met) c.5047C>A (p.Leu1683Met) c.4591C>A (p.Leu1531Met) c.2722C>A (p.Leu908Met) c.11143C>A (p.Leu3715Met) c.2701C>A (p.Leu901Met) c.11374C>A (p.Leu3792Met) c.4939C>A (p.Leu1647Met) c.4681C>A (p.Leu1561Met) c.11203C>A (p.Leu3735Met) c.5173C>A (p.Leu1725Met) c.2458C>A (p.Leu820Met) c.1129C>A (p.Leu377Met) c.2177C>A c.*2789C>A (n.*2789C>A) c.11461C>A (p.Leu3821Met) c.5170C>A (p.Leu1724Met) c.11515C>A (p.Leu3839Met) c.11479C>A (p.Leu3827Met) c.5227C>A (p.Leu1743Met) c.5260C>A (p.Leu1754Met) c.5191C>A (p.Leu1731Met) c.11455C>A (p.Leu3819Met) c.11500C>A (p.Leu3834Met) c.5185C>A (p.Leu1729Met) c.5152C>A (p.Leu1718Met) c.5215C>A (p.Leu1739Met) c.5071C>A (p.Leu1691Met) c.5251C>A (p.Leu1751Met) c.5143C>A (p.Leu1715Met) c.5107C>A (p.Leu1703Met) c.5122C>A (p.Leu1708Met) c.5032C>A (p.Leu1678Met) c.4960C>A (p.Leu1654Met) c.5044C>A (p.Leu1682Met) c.4873C>A (p.Leu1625Met) c.11545C>A (p.Leu3849Met) c.11431C>A (p.Leu3811Met) c.11401C>A (p.Leu3801Met) c.11464C>A (p.Leu3822Met) c.11194C>A (p.Leu3732Met) c.4954C>A (p.Leu1652Met) c.4999C>A (p.Leu1667Met) c.5158C>A (p.Leu1720Met) c.5230C>A (p.Leu1744Met) c.4690C>A (p.Leu1564Met) c.5017C>A (p.Leu1673Met) c.7828C>A (p.Leu2610Met) c.1573C>A (p.Leu525Met) c.5038C>A (p.Leu1680Met) | dbSNP |
4 | g.113369623C>G | CA357942700 | ANK2 | c.11569C>G (p.Leu3857Val) c.5254C>G (p.Leu1752Val) c.1855C>G (p.Leu619Val) c.2353C>G (p.Leu785Val) n.2810C>G n.2018C>G n.2762C>G n.1591C>G n.3553C>G n.1534C>G n.1927C>G n.8273C>G n.2899C>G n.883C>G n.3317C>G n.1532C>G c.11428C>G (p.Leu3810Val) c.11266C>G (p.Leu3756Val) c.2560C>G (p.Leu854Val) c.883C>G (p.Leu295Val) c.4987C>G (p.Leu1663Val) c.5074C>G (p.Leu1692Val) c.5011C>G (p.Leu1671Val) c.5209C>G (p.Leu1737Val) c.5110C>G (p.Leu1704Val) c.11302C>G (p.Leu3768Val) c.4912C>G (p.Leu1638Val) c.*666C>G (n.*666C>G) c.11245C>G (p.Leu3749Val) c.4789C>G (p.Leu1597Val) c.11242C>G (p.Leu3748Val) c.4888C>G (p.Leu1630Val) c.11473C>G (p.Leu3825Val) c.5023C>G (p.Leu1675Val) c.5008C>G (p.Leu1670Val) c.11509C>G (p.Leu3837Val) c.4996C>G (p.Leu1666Val) c.11230C>G (p.Leu3744Val) c.4948C>G (p.Leu1650Val) c.5146C>G (p.Leu1716Val) c.2737C>G (p.Leu913Val) c.11329C>G (p.Leu3777Val) c.5218C>G (p.Leu1740Val) c.11365C>G (p.Leu3789Val) c.4975C>G (p.Leu1659Val) c.11167C>G (p.Leu3723Val) c.5047C>G (p.Leu1683Val) c.4591C>G (p.Leu1531Val) c.2722C>G (p.Leu908Val) c.11143C>G (p.Leu3715Val) c.2701C>G (p.Leu901Val) c.11374C>G (p.Leu3792Val) c.4939C>G (p.Leu1647Val) c.4681C>G (p.Leu1561Val) c.11203C>G (p.Leu3735Val) c.5173C>G (p.Leu1725Val) c.2458C>G (p.Leu820Val) c.1129C>G (p.Leu377Val) c.2177C>G c.*2789C>G (n.*2789C>G) c.11461C>G (p.Leu3821Val) c.5170C>G (p.Leu1724Val) c.11515C>G (p.Leu3839Val) c.11479C>G (p.Leu3827Val) c.5227C>G (p.Leu1743Val) c.5260C>G (p.Leu1754Val) c.5191C>G (p.Leu1731Val) c.11455C>G (p.Leu3819Val) c.11500C>G (p.Leu3834Val) c.5185C>G (p.Leu1729Val) c.5152C>G (p.Leu1718Val) c.5215C>G (p.Leu1739Val) c.5071C>G (p.Leu1691Val) c.5251C>G (p.Leu1751Val) c.5143C>G (p.Leu1715Val) c.5107C>G (p.Leu1703Val) c.5122C>G (p.Leu1708Val) c.5032C>G (p.Leu1678Val) c.4960C>G (p.Leu1654Val) c.5044C>G (p.Leu1682Val) c.4873C>G (p.Leu1625Val) c.11545C>G (p.Leu3849Val) c.11431C>G (p.Leu3811Val) c.11401C>G (p.Leu3801Val) c.11464C>G (p.Leu3822Val) c.11194C>G (p.Leu3732Val) c.4954C>G (p.Leu1652Val) c.4999C>G (p.Leu1667Val) c.5158C>G (p.Leu1720Val) c.5230C>G (p.Leu1744Val) c.4690C>G (p.Leu1564Val) c.5017C>G (p.Leu1673Val) c.7828C>G (p.Leu2610Val) c.1573C>G (p.Leu525Val) c.5038C>G (p.Leu1680Val) | dbSNP |
4 | g.113369623C>T | CA440835576 | ANK2 | c.11569C>T (p.Leu3857=) c.5254C>T (p.Leu1752=) c.1855C>T (p.Leu619=) c.2353C>T (p.Leu785=) n.2810C>T n.2018C>T n.2762C>T n.1591C>T n.3553C>T n.1534C>T n.1927C>T n.8273C>T n.2899C>T n.883C>T n.3317C>T n.1532C>T c.11428C>T (p.Leu3810=) c.11266C>T (p.Leu3756=) c.2560C>T (p.Leu854=) c.883C>T (p.Leu295=) c.4987C>T (p.Leu1663=) c.5074C>T (p.Leu1692=) c.5011C>T (p.Leu1671=) c.5209C>T (p.Leu1737=) c.5110C>T (p.Leu1704=) c.11302C>T (p.Leu3768=) c.4912C>T (p.Leu1638=) c.*666C>T (n.*666C>T) c.11245C>T (p.Leu3749=) c.4789C>T (p.Leu1597=) c.11242C>T (p.Leu3748=) c.4888C>T (p.Leu1630=) c.11473C>T (p.Leu3825=) c.5023C>T (p.Leu1675=) c.5008C>T (p.Leu1670=) c.11509C>T (p.Leu3837=) c.4996C>T (p.Leu1666=) c.11230C>T (p.Leu3744=) c.4948C>T (p.Leu1650=) c.5146C>T (p.Leu1716=) c.2737C>T (p.Leu913=) c.11329C>T (p.Leu3777=) c.5218C>T (p.Leu1740=) c.11365C>T (p.Leu3789=) c.4975C>T (p.Leu1659=) c.11167C>T (p.Leu3723=) c.5047C>T (p.Leu1683=) c.4591C>T (p.Leu1531=) c.2722C>T (p.Leu908=) c.11143C>T (p.Leu3715=) c.2701C>T (p.Leu901=) c.11374C>T (p.Leu3792=) c.4939C>T (p.Leu1647=) c.4681C>T (p.Leu1561=) c.11203C>T (p.Leu3735=) c.5173C>T (p.Leu1725=) c.2458C>T (p.Leu820=) c.1129C>T (p.Leu377=) c.2177C>T c.*2789C>T (n.*2789C>T) c.11461C>T (p.Leu3821=) c.5170C>T (p.Leu1724=) c.11515C>T (p.Leu3839=) c.11479C>T (p.Leu3827=) c.5227C>T (p.Leu1743=) c.5260C>T (p.Leu1754=) c.5191C>T (p.Leu1731=) c.11455C>T (p.Leu3819=) c.11500C>T (p.Leu3834=) c.5185C>T (p.Leu1729=) c.5152C>T (p.Leu1718=) c.5215C>T (p.Leu1739=) c.5071C>T (p.Leu1691=) c.5251C>T (p.Leu1751=) c.5143C>T (p.Leu1715=) c.5107C>T (p.Leu1703=) c.5122C>T (p.Leu1708=) c.5032C>T (p.Leu1678=) c.4960C>T (p.Leu1654=) c.5044C>T (p.Leu1682=) c.4873C>T (p.Leu1625=) c.11545C>T (p.Leu3849=) c.11431C>T (p.Leu3811=) c.11401C>T (p.Leu3801=) c.11464C>T (p.Leu3822=) c.11194C>T (p.Leu3732=) c.4954C>T (p.Leu1652=) c.4999C>T (p.Leu1667=) c.5158C>T (p.Leu1720=) c.5230C>T (p.Leu1744=) c.4690C>T (p.Leu1564=) c.5017C>T (p.Leu1673=) c.7828C>T (p.Leu2610=) c.1573C>T (p.Leu525=) c.5038C>T (p.Leu1680=) | dbSNP |
4 | g.113369624T>A | CA357942701 | ANK2 | c.11570T>A (p.Leu3857Gln) c.5255T>A (p.Leu1752Gln) c.1856T>A (p.Leu619Gln) c.2354T>A (p.Leu785Gln) n.2811T>A n.2019T>A n.2763T>A n.1592T>A n.3554T>A n.1535T>A n.1928T>A n.8274T>A n.2900T>A n.884T>A n.3318T>A n.1533T>A c.11429T>A (p.Leu3810Gln) c.11267T>A (p.Leu3756Gln) c.2561T>A (p.Leu854Gln) c.884T>A (p.Leu295Gln) c.4988T>A (p.Leu1663Gln) c.5075T>A (p.Leu1692Gln) c.5012T>A (p.Leu1671Gln) c.5210T>A (p.Leu1737Gln) c.5111T>A (p.Leu1704Gln) c.11303T>A (p.Leu3768Gln) c.4913T>A (p.Leu1638Gln) c.*667T>A (n.*667T>A) c.11246T>A (p.Leu3749Gln) c.4790T>A (p.Leu1597Gln) c.11243T>A (p.Leu3748Gln) c.4889T>A (p.Leu1630Gln) c.11474T>A (p.Leu3825Gln) c.5024T>A (p.Leu1675Gln) c.5009T>A (p.Leu1670Gln) c.11510T>A (p.Leu3837Gln) c.4997T>A (p.Leu1666Gln) c.11231T>A (p.Leu3744Gln) c.4949T>A (p.Leu1650Gln) c.5147T>A (p.Leu1716Gln) c.2738T>A (p.Leu913Gln) c.11330T>A (p.Leu3777Gln) c.5219T>A (p.Leu1740Gln) c.11366T>A (p.Leu3789Gln) c.4976T>A (p.Leu1659Gln) c.11168T>A (p.Leu3723Gln) c.5048T>A (p.Leu1683Gln) c.4592T>A (p.Leu1531Gln) c.2723T>A (p.Leu908Gln) c.11144T>A (p.Leu3715Gln) c.2702T>A (p.Leu901Gln) c.11375T>A (p.Leu3792Gln) c.4940T>A (p.Leu1647Gln) c.4682T>A (p.Leu1561Gln) c.11204T>A (p.Leu3735Gln) c.5174T>A (p.Leu1725Gln) c.2459T>A (p.Leu820Gln) c.1130T>A (p.Leu377Gln) c.2178T>A c.*2790T>A (n.*2790T>A) c.11462T>A (p.Leu3821Gln) c.5171T>A (p.Leu1724Gln) c.11516T>A (p.Leu3839Gln) c.11480T>A (p.Leu3827Gln) c.5228T>A (p.Leu1743Gln) c.5261T>A (p.Leu1754Gln) c.5192T>A (p.Leu1731Gln) c.11456T>A (p.Leu3819Gln) c.11501T>A (p.Leu3834Gln) c.5186T>A (p.Leu1729Gln) c.5153T>A (p.Leu1718Gln) c.5216T>A (p.Leu1739Gln) c.5072T>A (p.Leu1691Gln) c.5252T>A (p.Leu1751Gln) c.5144T>A (p.Leu1715Gln) c.5108T>A (p.Leu1703Gln) c.5123T>A (p.Leu1708Gln) c.5033T>A (p.Leu1678Gln) c.4961T>A (p.Leu1654Gln) c.5045T>A (p.Leu1682Gln) c.4874T>A (p.Leu1625Gln) c.11546T>A (p.Leu3849Gln) c.11432T>A (p.Leu3811Gln) c.11402T>A (p.Leu3801Gln) c.11465T>A (p.Leu3822Gln) c.11195T>A (p.Leu3732Gln) c.4955T>A (p.Leu1652Gln) c.5000T>A (p.Leu1667Gln) c.5159T>A (p.Leu1720Gln) c.5231T>A (p.Leu1744Gln) c.4691T>A (p.Leu1564Gln) c.5018T>A (p.Leu1673Gln) c.7829T>A (p.Leu2610Gln) c.1574T>A (p.Leu525Gln) c.5039T>A (p.Leu1680Gln) | dbSNP |
4 | g.113369624T>C | CA357942702 | ANK2 | c.11570T>C (p.Leu3857Pro) c.5255T>C (p.Leu1752Pro) c.1856T>C (p.Leu619Pro) c.2354T>C (p.Leu785Pro) n.2811T>C n.2019T>C n.2763T>C n.1592T>C n.3554T>C n.1535T>C n.1928T>C n.8274T>C n.2900T>C n.884T>C n.3318T>C n.1533T>C c.11429T>C (p.Leu3810Pro) c.11267T>C (p.Leu3756Pro) c.2561T>C (p.Leu854Pro) c.884T>C (p.Leu295Pro) c.4988T>C (p.Leu1663Pro) c.5075T>C (p.Leu1692Pro) c.5012T>C (p.Leu1671Pro) c.5210T>C (p.Leu1737Pro) c.5111T>C (p.Leu1704Pro) c.11303T>C (p.Leu3768Pro) c.4913T>C (p.Leu1638Pro) c.*667T>C (n.*667T>C) c.11246T>C (p.Leu3749Pro) c.4790T>C (p.Leu1597Pro) c.11243T>C (p.Leu3748Pro) c.4889T>C (p.Leu1630Pro) c.11474T>C (p.Leu3825Pro) c.5024T>C (p.Leu1675Pro) c.5009T>C (p.Leu1670Pro) c.11510T>C (p.Leu3837Pro) c.4997T>C (p.Leu1666Pro) c.11231T>C (p.Leu3744Pro) c.4949T>C (p.Leu1650Pro) c.5147T>C (p.Leu1716Pro) c.2738T>C (p.Leu913Pro) c.11330T>C (p.Leu3777Pro) c.5219T>C (p.Leu1740Pro) c.11366T>C (p.Leu3789Pro) c.4976T>C (p.Leu1659Pro) c.11168T>C (p.Leu3723Pro) c.5048T>C (p.Leu1683Pro) c.4592T>C (p.Leu1531Pro) c.2723T>C (p.Leu908Pro) c.11144T>C (p.Leu3715Pro) c.2702T>C (p.Leu901Pro) c.11375T>C (p.Leu3792Pro) c.4940T>C (p.Leu1647Pro) c.4682T>C (p.Leu1561Pro) c.11204T>C (p.Leu3735Pro) c.5174T>C (p.Leu1725Pro) c.2459T>C (p.Leu820Pro) c.1130T>C (p.Leu377Pro) c.2178T>C c.*2790T>C (n.*2790T>C) c.11462T>C (p.Leu3821Pro) c.5171T>C (p.Leu1724Pro) c.11516T>C (p.Leu3839Pro) c.11480T>C (p.Leu3827Pro) c.5228T>C (p.Leu1743Pro) c.5261T>C (p.Leu1754Pro) c.5192T>C (p.Leu1731Pro) c.11456T>C (p.Leu3819Pro) c.11501T>C (p.Leu3834Pro) c.5186T>C (p.Leu1729Pro) c.5153T>C (p.Leu1718Pro) c.5216T>C (p.Leu1739Pro) c.5072T>C (p.Leu1691Pro) c.5252T>C (p.Leu1751Pro) c.5144T>C (p.Leu1715Pro) c.5108T>C (p.Leu1703Pro) c.5123T>C (p.Leu1708Pro) c.5033T>C (p.Leu1678Pro) c.4961T>C (p.Leu1654Pro) c.5045T>C (p.Leu1682Pro) c.4874T>C (p.Leu1625Pro) c.11546T>C (p.Leu3849Pro) c.11432T>C (p.Leu3811Pro) c.11402T>C (p.Leu3801Pro) c.11465T>C (p.Leu3822Pro) c.11195T>C (p.Leu3732Pro) c.4955T>C (p.Leu1652Pro) c.5000T>C (p.Leu1667Pro) c.5159T>C (p.Leu1720Pro) c.5231T>C (p.Leu1744Pro) c.4691T>C (p.Leu1564Pro) c.5018T>C (p.Leu1673Pro) c.7829T>C (p.Leu2610Pro) c.1574T>C (p.Leu525Pro) c.5039T>C (p.Leu1680Pro) | dbSNP |
4 | g.113369624T>G | CA357942703 | ANK2 | c.11570T>G (p.Leu3857Arg) c.5255T>G (p.Leu1752Arg) c.1856T>G (p.Leu619Arg) c.2354T>G (p.Leu785Arg) n.2811T>G n.2019T>G n.2763T>G n.1592T>G n.3554T>G n.1535T>G n.1928T>G n.8274T>G n.2900T>G n.884T>G n.3318T>G n.1533T>G c.11429T>G (p.Leu3810Arg) c.11267T>G (p.Leu3756Arg) c.2561T>G (p.Leu854Arg) c.884T>G (p.Leu295Arg) c.4988T>G (p.Leu1663Arg) c.5075T>G (p.Leu1692Arg) c.5012T>G (p.Leu1671Arg) c.5210T>G (p.Leu1737Arg) c.5111T>G (p.Leu1704Arg) c.11303T>G (p.Leu3768Arg) c.4913T>G (p.Leu1638Arg) c.*667T>G (n.*667T>G) c.11246T>G (p.Leu3749Arg) c.4790T>G (p.Leu1597Arg) c.11243T>G (p.Leu3748Arg) c.4889T>G (p.Leu1630Arg) c.11474T>G (p.Leu3825Arg) c.5024T>G (p.Leu1675Arg) c.5009T>G (p.Leu1670Arg) c.11510T>G (p.Leu3837Arg) c.4997T>G (p.Leu1666Arg) c.11231T>G (p.Leu3744Arg) c.4949T>G (p.Leu1650Arg) c.5147T>G (p.Leu1716Arg) c.2738T>G (p.Leu913Arg) c.11330T>G (p.Leu3777Arg) c.5219T>G (p.Leu1740Arg) c.11366T>G (p.Leu3789Arg) c.4976T>G (p.Leu1659Arg) c.11168T>G (p.Leu3723Arg) c.5048T>G (p.Leu1683Arg) c.4592T>G (p.Leu1531Arg) c.2723T>G (p.Leu908Arg) c.11144T>G (p.Leu3715Arg) c.2702T>G (p.Leu901Arg) c.11375T>G (p.Leu3792Arg) c.4940T>G (p.Leu1647Arg) c.4682T>G (p.Leu1561Arg) c.11204T>G (p.Leu3735Arg) c.5174T>G (p.Leu1725Arg) c.2459T>G (p.Leu820Arg) c.1130T>G (p.Leu377Arg) c.2178T>G c.*2790T>G (n.*2790T>G) c.11462T>G (p.Leu3821Arg) c.5171T>G (p.Leu1724Arg) c.11516T>G (p.Leu3839Arg) c.11480T>G (p.Leu3827Arg) c.5228T>G (p.Leu1743Arg) c.5261T>G (p.Leu1754Arg) c.5192T>G (p.Leu1731Arg) c.11456T>G (p.Leu3819Arg) c.11501T>G (p.Leu3834Arg) c.5186T>G (p.Leu1729Arg) c.5153T>G (p.Leu1718Arg) c.5216T>G (p.Leu1739Arg) c.5072T>G (p.Leu1691Arg) c.5252T>G (p.Leu1751Arg) c.5144T>G (p.Leu1715Arg) c.5108T>G (p.Leu1703Arg) c.5123T>G (p.Leu1708Arg) c.5033T>G (p.Leu1678Arg) c.4961T>G (p.Leu1654Arg) c.5045T>G (p.Leu1682Arg) c.4874T>G (p.Leu1625Arg) c.11546T>G (p.Leu3849Arg) c.11432T>G (p.Leu3811Arg) c.11402T>G (p.Leu3801Arg) c.11465T>G (p.Leu3822Arg) c.11195T>G (p.Leu3732Arg) c.4955T>G (p.Leu1652Arg) c.5000T>G (p.Leu1667Arg) c.5159T>G (p.Leu1720Arg) c.5231T>G (p.Leu1744Arg) c.4691T>G (p.Leu1564Arg) c.5018T>G (p.Leu1673Arg) c.7829T>G (p.Leu2610Arg) c.1574T>G (p.Leu525Arg) c.5039T>G (p.Leu1680Arg) | |
4 | g.113369625G>A | CA440835577 | ANK2 | c.11571G>A (p.Leu3857=) c.5256G>A (p.Leu1752=) c.1857G>A (p.Leu619=) c.2355G>A (p.Leu785=) n.2812G>A n.2020G>A n.2764G>A n.1593G>A n.3555G>A n.1536G>A n.1929G>A n.8275G>A n.2901G>A n.885G>A n.3319G>A n.1534G>A c.11430G>A (p.Leu3810=) c.11268G>A (p.Leu3756=) c.2562G>A (p.Leu854=) c.885G>A (p.Leu295=) c.4989G>A (p.Leu1663=) c.5076G>A (p.Leu1692=) c.5013G>A (p.Leu1671=) c.5211G>A (p.Leu1737=) c.5112G>A (p.Leu1704=) c.11304G>A (p.Leu3768=) c.4914G>A (p.Leu1638=) c.*668G>A (n.*668G>A) c.11247G>A (p.Leu3749=) c.4791G>A (p.Leu1597=) c.11244G>A (p.Leu3748=) c.4890G>A (p.Leu1630=) c.11475G>A (p.Leu3825=) c.5025G>A (p.Leu1675=) c.5010G>A (p.Leu1670=) c.11511G>A (p.Leu3837=) c.4998G>A (p.Leu1666=) c.11232G>A (p.Leu3744=) c.4950G>A (p.Leu1650=) c.5148G>A (p.Leu1716=) c.2739G>A (p.Leu913=) c.11331G>A (p.Leu3777=) c.5220G>A (p.Leu1740=) c.11367G>A (p.Leu3789=) c.4977G>A (p.Leu1659=) c.11169G>A (p.Leu3723=) c.5049G>A (p.Leu1683=) c.4593G>A (p.Leu1531=) c.2724G>A (p.Leu908=) c.11145G>A (p.Leu3715=) c.2703G>A (p.Leu901=) c.11376G>A (p.Leu3792=) c.4941G>A (p.Leu1647=) c.4683G>A (p.Leu1561=) c.11205G>A (p.Leu3735=) c.5175G>A (p.Leu1725=) c.2460G>A (p.Leu820=) c.1131G>A (p.Leu377=) c.2179G>A c.*2791G>A (n.*2791G>A) c.11463G>A (p.Leu3821=) c.5172G>A (p.Leu1724=) c.11517G>A (p.Leu3839=) c.11481G>A (p.Leu3827=) c.5229G>A (p.Leu1743=) c.5262G>A (p.Leu1754=) c.5193G>A (p.Leu1731=) c.11457G>A (p.Leu3819=) c.11502G>A (p.Leu3834=) c.5187G>A (p.Leu1729=) c.5154G>A (p.Leu1718=) c.5217G>A (p.Leu1739=) c.5073G>A (p.Leu1691=) c.5253G>A (p.Leu1751=) c.5145G>A (p.Leu1715=) c.5109G>A (p.Leu1703=) c.5124G>A (p.Leu1708=) c.5034G>A (p.Leu1678=) c.4962G>A (p.Leu1654=) c.5046G>A (p.Leu1682=) c.4875G>A (p.Leu1625=) c.11547G>A (p.Leu3849=) c.11433G>A (p.Leu3811=) c.11403G>A (p.Leu3801=) c.11466G>A (p.Leu3822=) c.11196G>A (p.Leu3732=) c.4956G>A (p.Leu1652=) c.5001G>A (p.Leu1667=) c.5160G>A (p.Leu1720=) c.5232G>A (p.Leu1744=) c.4692G>A (p.Leu1564=) c.5019G>A (p.Leu1673=) c.7830G>A (p.Leu2610=) c.1575G>A (p.Leu525=) c.5040G>A (p.Leu1680=) | dbSNP |
4 | g.113369625G>C | CA440835578 | ANK2 | c.11571G>C (p.Leu3857=) c.5256G>C (p.Leu1752=) c.1857G>C (p.Leu619=) c.2355G>C (p.Leu785=) n.2812G>C n.2020G>C n.2764G>C n.1593G>C n.3555G>C n.1536G>C n.1929G>C n.8275G>C n.2901G>C n.885G>C n.3319G>C n.1534G>C c.11430G>C (p.Leu3810=) c.11268G>C (p.Leu3756=) c.2562G>C (p.Leu854=) c.885G>C (p.Leu295=) c.4989G>C (p.Leu1663=) c.5076G>C (p.Leu1692=) c.5013G>C (p.Leu1671=) c.5211G>C (p.Leu1737=) c.5112G>C (p.Leu1704=) c.11304G>C (p.Leu3768=) c.4914G>C (p.Leu1638=) c.*668G>C (n.*668G>C) c.11247G>C (p.Leu3749=) c.4791G>C (p.Leu1597=) c.11244G>C (p.Leu3748=) c.4890G>C (p.Leu1630=) c.11475G>C (p.Leu3825=) c.5025G>C (p.Leu1675=) c.5010G>C (p.Leu1670=) c.11511G>C (p.Leu3837=) c.4998G>C (p.Leu1666=) c.11232G>C (p.Leu3744=) c.4950G>C (p.Leu1650=) c.5148G>C (p.Leu1716=) c.2739G>C (p.Leu913=) c.11331G>C (p.Leu3777=) c.5220G>C (p.Leu1740=) c.11367G>C (p.Leu3789=) c.4977G>C (p.Leu1659=) c.11169G>C (p.Leu3723=) c.5049G>C (p.Leu1683=) c.4593G>C (p.Leu1531=) c.2724G>C (p.Leu908=) c.11145G>C (p.Leu3715=) c.2703G>C (p.Leu901=) c.11376G>C (p.Leu3792=) c.4941G>C (p.Leu1647=) c.4683G>C (p.Leu1561=) c.11205G>C (p.Leu3735=) c.5175G>C (p.Leu1725=) c.2460G>C (p.Leu820=) c.1131G>C (p.Leu377=) c.2179G>C c.*2791G>C (n.*2791G>C) c.11463G>C (p.Leu3821=) c.5172G>C (p.Leu1724=) c.11517G>C (p.Leu3839=) c.11481G>C (p.Leu3827=) c.5229G>C (p.Leu1743=) c.5262G>C (p.Leu1754=) c.5193G>C (p.Leu1731=) c.11457G>C (p.Leu3819=) c.11502G>C (p.Leu3834=) c.5187G>C (p.Leu1729=) c.5154G>C (p.Leu1718=) c.5217G>C (p.Leu1739=) c.5073G>C (p.Leu1691=) c.5253G>C (p.Leu1751=) c.5145G>C (p.Leu1715=) c.5109G>C (p.Leu1703=) c.5124G>C (p.Leu1708=) c.5034G>C (p.Leu1678=) c.4962G>C (p.Leu1654=) c.5046G>C (p.Leu1682=) c.4875G>C (p.Leu1625=) c.11547G>C (p.Leu3849=) c.11433G>C (p.Leu3811=) c.11403G>C (p.Leu3801=) c.11466G>C (p.Leu3822=) c.11196G>C (p.Leu3732=) c.4956G>C (p.Leu1652=) c.5001G>C (p.Leu1667=) c.5160G>C (p.Leu1720=) c.5232G>C (p.Leu1744=) c.4692G>C (p.Leu1564=) c.5019G>C (p.Leu1673=) c.7830G>C (p.Leu2610=) c.1575G>C (p.Leu525=) c.5040G>C (p.Leu1680=) | dbSNP |
4 | g.113369625G>T | CA440835579 | ANK2 | c.11571G>T (p.Leu3857=) c.5256G>T (p.Leu1752=) c.1857G>T (p.Leu619=) c.2355G>T (p.Leu785=) n.2812G>T n.2020G>T n.2764G>T n.1593G>T n.3555G>T n.1536G>T n.1929G>T n.8275G>T n.2901G>T n.885G>T n.3319G>T n.1534G>T c.11430G>T (p.Leu3810=) c.11268G>T (p.Leu3756=) c.2562G>T (p.Leu854=) c.885G>T (p.Leu295=) c.4989G>T (p.Leu1663=) c.5076G>T (p.Leu1692=) c.5013G>T (p.Leu1671=) c.5211G>T (p.Leu1737=) c.5112G>T (p.Leu1704=) c.11304G>T (p.Leu3768=) c.4914G>T (p.Leu1638=) c.*668G>T (n.*668G>T) c.11247G>T (p.Leu3749=) c.4791G>T (p.Leu1597=) c.11244G>T (p.Leu3748=) c.4890G>T (p.Leu1630=) c.11475G>T (p.Leu3825=) c.5025G>T (p.Leu1675=) c.5010G>T (p.Leu1670=) c.11511G>T (p.Leu3837=) c.4998G>T (p.Leu1666=) c.11232G>T (p.Leu3744=) c.4950G>T (p.Leu1650=) c.5148G>T (p.Leu1716=) c.2739G>T (p.Leu913=) c.11331G>T (p.Leu3777=) c.5220G>T (p.Leu1740=) c.11367G>T (p.Leu3789=) c.4977G>T (p.Leu1659=) c.11169G>T (p.Leu3723=) c.5049G>T (p.Leu1683=) c.4593G>T (p.Leu1531=) c.2724G>T (p.Leu908=) c.11145G>T (p.Leu3715=) c.2703G>T (p.Leu901=) c.11376G>T (p.Leu3792=) c.4941G>T (p.Leu1647=) c.4683G>T (p.Leu1561=) c.11205G>T (p.Leu3735=) c.5175G>T (p.Leu1725=) c.2460G>T (p.Leu820=) c.1131G>T (p.Leu377=) c.2179G>T c.*2791G>T (n.*2791G>T) c.11463G>T (p.Leu3821=) c.5172G>T (p.Leu1724=) c.11517G>T (p.Leu3839=) c.11481G>T (p.Leu3827=) c.5229G>T (p.Leu1743=) c.5262G>T (p.Leu1754=) c.5193G>T (p.Leu1731=) c.11457G>T (p.Leu3819=) c.11502G>T (p.Leu3834=) c.5187G>T (p.Leu1729=) c.5154G>T (p.Leu1718=) c.5217G>T (p.Leu1739=) c.5073G>T (p.Leu1691=) c.5253G>T (p.Leu1751=) c.5145G>T (p.Leu1715=) c.5109G>T (p.Leu1703=) c.5124G>T (p.Leu1708=) c.5034G>T (p.Leu1678=) c.4962G>T (p.Leu1654=) c.5046G>T (p.Leu1682=) c.4875G>T (p.Leu1625=) c.11547G>T (p.Leu3849=) c.11433G>T (p.Leu3811=) c.11403G>T (p.Leu3801=) c.11466G>T (p.Leu3822=) c.11196G>T (p.Leu3732=) c.4956G>T (p.Leu1652=) c.5001G>T (p.Leu1667=) c.5160G>T (p.Leu1720=) c.5232G>T (p.Leu1744=) c.4692G>T (p.Leu1564=) c.5019G>T (p.Leu1673=) c.7830G>T (p.Leu2610=) c.1575G>T (p.Leu525=) c.5040G>T (p.Leu1680=) | |
4 | g.113369626T>A | CA357942704 | ANK2 | c.11572T>A (p.Tyr3858Asn) c.5257T>A (p.Tyr1753Asn) c.1858T>A (p.Tyr620Asn) c.2356T>A (p.Tyr786Asn) n.2813T>A n.2021T>A n.2765T>A n.1594T>A n.3556T>A n.1537T>A n.1930T>A n.8276T>A n.2902T>A n.886T>A n.3320T>A n.1535T>A c.11431T>A (p.Tyr3811Asn) c.11269T>A (p.Tyr3757Asn) c.2563T>A (p.Tyr855Asn) c.886T>A (p.Tyr296Asn) c.4990T>A (p.Tyr1664Asn) c.5077T>A (p.Tyr1693Asn) c.5014T>A (p.Tyr1672Asn) c.5212T>A (p.Tyr1738Asn) c.5113T>A (p.Tyr1705Asn) c.11305T>A (p.Tyr3769Asn) c.4915T>A (p.Tyr1639Asn) c.*669T>A (n.*669T>A) c.11248T>A (p.Tyr3750Asn) c.4792T>A (p.Tyr1598Asn) c.11245T>A (p.Tyr3749Asn) c.4891T>A (p.Tyr1631Asn) c.11476T>A (p.Tyr3826Asn) c.5026T>A (p.Tyr1676Asn) c.5011T>A (p.Tyr1671Asn) c.11512T>A (p.Tyr3838Asn) c.4999T>A (p.Tyr1667Asn) c.11233T>A (p.Tyr3745Asn) c.4951T>A (p.Tyr1651Asn) c.5149T>A (p.Tyr1717Asn) c.2740T>A (p.Tyr914Asn) c.11332T>A (p.Tyr3778Asn) c.5221T>A (p.Tyr1741Asn) c.11368T>A (p.Tyr3790Asn) c.4978T>A (p.Tyr1660Asn) c.11170T>A (p.Tyr3724Asn) c.5050T>A (p.Tyr1684Asn) c.4594T>A (p.Tyr1532Asn) c.2725T>A (p.Tyr909Asn) c.11146T>A (p.Tyr3716Asn) c.2704T>A (p.Tyr902Asn) c.11377T>A (p.Tyr3793Asn) c.4942T>A (p.Tyr1648Asn) c.4684T>A (p.Tyr1562Asn) c.11206T>A (p.Tyr3736Asn) c.5176T>A (p.Tyr1726Asn) c.2461T>A (p.Tyr821Asn) c.1132T>A (p.Tyr378Asn) c.2180T>A c.*2792T>A (n.*2792T>A) c.11464T>A (p.Tyr3822Asn) c.5173T>A (p.Tyr1725Asn) c.11518T>A (p.Tyr3840Asn) c.11482T>A (p.Tyr3828Asn) c.5230T>A (p.Tyr1744Asn) c.5263T>A (p.Tyr1755Asn) c.5194T>A (p.Tyr1732Asn) c.11458T>A (p.Tyr3820Asn) c.11503T>A (p.Tyr3835Asn) c.5188T>A (p.Tyr1730Asn) c.5155T>A (p.Tyr1719Asn) c.5218T>A (p.Tyr1740Asn) c.5074T>A (p.Tyr1692Asn) c.5254T>A (p.Tyr1752Asn) c.5146T>A (p.Tyr1716Asn) c.5110T>A (p.Tyr1704Asn) c.5125T>A (p.Tyr1709Asn) c.5035T>A (p.Tyr1679Asn) c.4963T>A (p.Tyr1655Asn) c.5047T>A (p.Tyr1683Asn) c.4876T>A (p.Tyr1626Asn) c.11548T>A (p.Tyr3850Asn) c.11434T>A (p.Tyr3812Asn) c.11404T>A (p.Tyr3802Asn) c.11467T>A (p.Tyr3823Asn) c.11197T>A (p.Tyr3733Asn) c.4957T>A (p.Tyr1653Asn) c.5002T>A (p.Tyr1668Asn) c.5161T>A (p.Tyr1721Asn) c.5233T>A (p.Tyr1745Asn) c.4693T>A (p.Tyr1565Asn) c.5020T>A (p.Tyr1674Asn) c.7831T>A (p.Tyr2611Asn) c.1576T>A (p.Tyr526Asn) c.5041T>A (p.Tyr1681Asn) | dbSNP |
4 | g.113369626T>C | CA357942705 | ANK2 | c.11572T>C (p.Tyr3858His) c.5257T>C (p.Tyr1753His) c.1858T>C (p.Tyr620His) c.2356T>C (p.Tyr786His) n.2813T>C n.2021T>C n.2765T>C n.1594T>C n.3556T>C n.1537T>C n.1930T>C n.8276T>C n.2902T>C n.886T>C n.3320T>C n.1535T>C c.11431T>C (p.Tyr3811His) c.11269T>C (p.Tyr3757His) c.2563T>C (p.Tyr855His) c.886T>C (p.Tyr296His) c.4990T>C (p.Tyr1664His) c.5077T>C (p.Tyr1693His) c.5014T>C (p.Tyr1672His) c.5212T>C (p.Tyr1738His) c.5113T>C (p.Tyr1705His) c.11305T>C (p.Tyr3769His) c.4915T>C (p.Tyr1639His) c.*669T>C (n.*669T>C) c.11248T>C (p.Tyr3750His) c.4792T>C (p.Tyr1598His) c.11245T>C (p.Tyr3749His) c.4891T>C (p.Tyr1631His) c.11476T>C (p.Tyr3826His) c.5026T>C (p.Tyr1676His) c.5011T>C (p.Tyr1671His) c.11512T>C (p.Tyr3838His) c.4999T>C (p.Tyr1667His) c.11233T>C (p.Tyr3745His) c.4951T>C (p.Tyr1651His) c.5149T>C (p.Tyr1717His) c.2740T>C (p.Tyr914His) c.11332T>C (p.Tyr3778His) c.5221T>C (p.Tyr1741His) c.11368T>C (p.Tyr3790His) c.4978T>C (p.Tyr1660His) c.11170T>C (p.Tyr3724His) c.5050T>C (p.Tyr1684His) c.4594T>C (p.Tyr1532His) c.2725T>C (p.Tyr909His) c.11146T>C (p.Tyr3716His) c.2704T>C (p.Tyr902His) c.11377T>C (p.Tyr3793His) c.4942T>C (p.Tyr1648His) c.4684T>C (p.Tyr1562His) c.11206T>C (p.Tyr3736His) c.5176T>C (p.Tyr1726His) c.2461T>C (p.Tyr821His) c.1132T>C (p.Tyr378His) c.2180T>C c.*2792T>C (n.*2792T>C) c.11464T>C (p.Tyr3822His) c.5173T>C (p.Tyr1725His) c.11518T>C (p.Tyr3840His) c.11482T>C (p.Tyr3828His) c.5230T>C (p.Tyr1744His) c.5263T>C (p.Tyr1755His) c.5194T>C (p.Tyr1732His) c.11458T>C (p.Tyr3820His) c.11503T>C (p.Tyr3835His) c.5188T>C (p.Tyr1730His) c.5155T>C (p.Tyr1719His) c.5218T>C (p.Tyr1740His) c.5074T>C (p.Tyr1692His) c.5254T>C (p.Tyr1752His) c.5146T>C (p.Tyr1716His) c.5110T>C (p.Tyr1704His) c.5125T>C (p.Tyr1709His) c.5035T>C (p.Tyr1679His) c.4963T>C (p.Tyr1655His) c.5047T>C (p.Tyr1683His) c.4876T>C (p.Tyr1626His) c.11548T>C (p.Tyr3850His) c.11434T>C (p.Tyr3812His) c.11404T>C (p.Tyr3802His) c.11467T>C (p.Tyr3823His) c.11197T>C (p.Tyr3733His) c.4957T>C (p.Tyr1653His) c.5002T>C (p.Tyr1668His) c.5161T>C (p.Tyr1721His) c.5233T>C (p.Tyr1745His) c.4693T>C (p.Tyr1565His) c.5020T>C (p.Tyr1674His) c.7831T>C (p.Tyr2611His) c.1576T>C (p.Tyr526His) c.5041T>C (p.Tyr1681His) | dbSNP |
4 | g.113369626T>G | CA357942706 | ANK2 | c.11572T>G (p.Tyr3858Asp) c.5257T>G (p.Tyr1753Asp) c.1858T>G (p.Tyr620Asp) c.2356T>G (p.Tyr786Asp) n.2813T>G n.2021T>G n.2765T>G n.1594T>G n.3556T>G n.1537T>G n.1930T>G n.8276T>G n.2902T>G n.886T>G n.3320T>G n.1535T>G c.11431T>G (p.Tyr3811Asp) c.11269T>G (p.Tyr3757Asp) c.2563T>G (p.Tyr855Asp) c.886T>G (p.Tyr296Asp) c.4990T>G (p.Tyr1664Asp) c.5077T>G (p.Tyr1693Asp) c.5014T>G (p.Tyr1672Asp) c.5212T>G (p.Tyr1738Asp) c.5113T>G (p.Tyr1705Asp) c.11305T>G (p.Tyr3769Asp) c.4915T>G (p.Tyr1639Asp) c.*669T>G (n.*669T>G) c.11248T>G (p.Tyr3750Asp) c.4792T>G (p.Tyr1598Asp) c.11245T>G (p.Tyr3749Asp) c.4891T>G (p.Tyr1631Asp) c.11476T>G (p.Tyr3826Asp) c.5026T>G (p.Tyr1676Asp) c.5011T>G (p.Tyr1671Asp) c.11512T>G (p.Tyr3838Asp) c.4999T>G (p.Tyr1667Asp) c.11233T>G (p.Tyr3745Asp) c.4951T>G (p.Tyr1651Asp) c.5149T>G (p.Tyr1717Asp) c.2740T>G (p.Tyr914Asp) c.11332T>G (p.Tyr3778Asp) c.5221T>G (p.Tyr1741Asp) c.11368T>G (p.Tyr3790Asp) c.4978T>G (p.Tyr1660Asp) c.11170T>G (p.Tyr3724Asp) c.5050T>G (p.Tyr1684Asp) c.4594T>G (p.Tyr1532Asp) c.2725T>G (p.Tyr909Asp) c.11146T>G (p.Tyr3716Asp) c.2704T>G (p.Tyr902Asp) c.11377T>G (p.Tyr3793Asp) c.4942T>G (p.Tyr1648Asp) c.4684T>G (p.Tyr1562Asp) c.11206T>G (p.Tyr3736Asp) c.5176T>G (p.Tyr1726Asp) c.2461T>G (p.Tyr821Asp) c.1132T>G (p.Tyr378Asp) c.2180T>G c.*2792T>G (n.*2792T>G) c.11464T>G (p.Tyr3822Asp) c.5173T>G (p.Tyr1725Asp) c.11518T>G (p.Tyr3840Asp) c.11482T>G (p.Tyr3828Asp) c.5230T>G (p.Tyr1744Asp) c.5263T>G (p.Tyr1755Asp) c.5194T>G (p.Tyr1732Asp) c.11458T>G (p.Tyr3820Asp) c.11503T>G (p.Tyr3835Asp) c.5188T>G (p.Tyr1730Asp) c.5155T>G (p.Tyr1719Asp) c.5218T>G (p.Tyr1740Asp) c.5074T>G (p.Tyr1692Asp) c.5254T>G (p.Tyr1752Asp) c.5146T>G (p.Tyr1716Asp) c.5110T>G (p.Tyr1704Asp) c.5125T>G (p.Tyr1709Asp) c.5035T>G (p.Tyr1679Asp) c.4963T>G (p.Tyr1655Asp) c.5047T>G (p.Tyr1683Asp) c.4876T>G (p.Tyr1626Asp) c.11548T>G (p.Tyr3850Asp) c.11434T>G (p.Tyr3812Asp) c.11404T>G (p.Tyr3802Asp) c.11467T>G (p.Tyr3823Asp) c.11197T>G (p.Tyr3733Asp) c.4957T>G (p.Tyr1653Asp) c.5002T>G (p.Tyr1668Asp) c.5161T>G (p.Tyr1721Asp) c.5233T>G (p.Tyr1745Asp) c.4693T>G (p.Tyr1565Asp) c.5020T>G (p.Tyr1674Asp) c.7831T>G (p.Tyr2611Asp) c.1576T>G (p.Tyr526Asp) c.5041T>G (p.Tyr1681Asp) | dbSNP |