Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.41668301T>ACA371051003ANK1c.5483A>T (p.Gln1828Leu)
c.5579A>T (p.Gln1860Leu)
c.5396A>T (p.Gln1799Leu)
c.5360A>T (p.Gln1787Leu)
c.1374A>T
c.2838A>T
n.2754A>T
c.4874A>T (p.Gln1625Leu)
c.5624A>T (p.Gln1875Leu)
c.5525A>T (p.Gln1842Leu)
c.5459A>T (p.Gln1820Leu)
c.5441A>T (p.Gln1814Leu)
c.5093A>T (p.Gln1698Leu)
c.4973A>T (p.Gln1658Leu)
n.5215A>T
c.5600A>T (p.Gln1867Leu)
c.5537A>T (p.Gln1846Leu)
c.5528A>T (p.Gln1843Leu)
c.5138A>T (p.Gln1713Leu)
c.4997A>T (p.Gln1666Leu)
c.5429A>T (p.Gln1810Leu)
8g.41668301T>CCA371051005ANK1c.5483A>G (p.Gln1828Arg)
c.5579A>G (p.Gln1860Arg)
c.5396A>G (p.Gln1799Arg)
c.5360A>G (p.Gln1787Arg)
c.1374A>G
c.2838A>G
n.2754A>G
c.4874A>G (p.Gln1625Arg)
c.5624A>G (p.Gln1875Arg)
c.5525A>G (p.Gln1842Arg)
c.5459A>G (p.Gln1820Arg)
c.5441A>G (p.Gln1814Arg)
c.5093A>G (p.Gln1698Arg)
c.4973A>G (p.Gln1658Arg)
n.5215A>G
c.5600A>G (p.Gln1867Arg)
c.5537A>G (p.Gln1846Arg)
c.5528A>G (p.Gln1843Arg)
c.5138A>G (p.Gln1713Arg)
c.4997A>G (p.Gln1666Arg)
c.5429A>G (p.Gln1810Arg)
8g.41668301T>GCA371051006ANK1c.5483A>C (p.Gln1828Pro)
c.5579A>C (p.Gln1860Pro)
c.5396A>C (p.Gln1799Pro)
c.5360A>C (p.Gln1787Pro)
c.1374A>C
c.2838A>C
n.2754A>C
c.4874A>C (p.Gln1625Pro)
c.5624A>C (p.Gln1875Pro)
c.5525A>C (p.Gln1842Pro)
c.5459A>C (p.Gln1820Pro)
c.5441A>C (p.Gln1814Pro)
c.5093A>C (p.Gln1698Pro)
c.4973A>C (p.Gln1658Pro)
n.5215A>C
c.5600A>C (p.Gln1867Pro)
c.5537A>C (p.Gln1846Pro)
c.5528A>C (p.Gln1843Pro)
c.5138A>C (p.Gln1713Pro)
c.4997A>C (p.Gln1666Pro)
c.5429A>C (p.Gln1810Pro)
8g.41668302G>ACA371051007ANK1c.5482C>T (p.Gln1828Ter)
c.5578C>T (p.Gln1860Ter)
c.5395C>T (p.Gln1799Ter)
c.5359C>T (p.Gln1787Ter)
c.1373C>T
c.2837C>T
n.2753C>T
c.4873C>T (p.Gln1625Ter)
c.5623C>T (p.Gln1875Ter)
c.5524C>T (p.Gln1842Ter)
c.5458C>T (p.Gln1820Ter)
c.5440C>T (p.Gln1814Ter)
c.5092C>T (p.Gln1698Ter)
c.4972C>T (p.Gln1658Ter)
n.5214C>T
c.5599C>T (p.Gln1867Ter)
c.5536C>T (p.Gln1846Ter)
c.5527C>T (p.Gln1843Ter)
c.5137C>T (p.Gln1713Ter)
c.4996C>T (p.Gln1666Ter)
c.5428C>T (p.Gln1810Ter)
8g.41668302G>CCA371051009ANK1c.5482C>G (p.Gln1828Glu)
c.5578C>G (p.Gln1860Glu)
c.5395C>G (p.Gln1799Glu)
c.5359C>G (p.Gln1787Glu)
c.1373C>G
c.2837C>G
n.2753C>G
c.4873C>G (p.Gln1625Glu)
c.5623C>G (p.Gln1875Glu)
c.5524C>G (p.Gln1842Glu)
c.5458C>G (p.Gln1820Glu)
c.5440C>G (p.Gln1814Glu)
c.5092C>G (p.Gln1698Glu)
c.4972C>G (p.Gln1658Glu)
n.5214C>G
c.5599C>G (p.Gln1867Glu)
c.5536C>G (p.Gln1846Glu)
c.5527C>G (p.Gln1843Glu)
c.5137C>G (p.Gln1713Glu)
c.4996C>G (p.Gln1666Glu)
c.5428C>G (p.Gln1810Glu)
8g.41668302G>TCA371051010ANK1c.5482C>A (p.Gln1828Lys)
c.5578C>A (p.Gln1860Lys)
c.5395C>A (p.Gln1799Lys)
c.5359C>A (p.Gln1787Lys)
c.1373C>A
c.2837C>A
n.2753C>A
c.4873C>A (p.Gln1625Lys)
c.5623C>A (p.Gln1875Lys)
c.5524C>A (p.Gln1842Lys)
c.5458C>A (p.Gln1820Lys)
c.5440C>A (p.Gln1814Lys)
c.5092C>A (p.Gln1698Lys)
c.4972C>A (p.Gln1658Lys)
n.5214C>A
c.5599C>A (p.Gln1867Lys)
c.5536C>A (p.Gln1846Lys)
c.5527C>A (p.Gln1843Lys)
c.5137C>A (p.Gln1713Lys)
c.4996C>A (p.Gln1666Lys)
c.5428C>A (p.Gln1810Lys)
8g.41668303C>ACA460781990ANK1c.5481G>T (p.Val1827=)
c.5577G>T (p.Val1859=)
c.5394G>T (p.Val1798=)
c.5358G>T (p.Val1786=)
c.1372G>T
c.2836G>T
n.2752G>T
c.4872G>T (p.Val1624=)
c.5622G>T (p.Val1874=)
c.5523G>T (p.Val1841=)
c.5457G>T (p.Val1819=)
c.5439G>T (p.Val1813=)
c.5091G>T (p.Val1697=)
c.4971G>T (p.Val1657=)
n.5213G>T
c.5598G>T (p.Val1866=)
c.5535G>T (p.Val1845=)
c.5526G>T (p.Val1842=)
c.5136G>T (p.Val1712=)
c.4995G>T (p.Val1665=)
c.5427G>T (p.Val1809=)
8g.41668303C=CA1779071014ANK1c.5481G= (p.Val1827=)
c.5577G= (p.Val1859=)
c.5394G= (p.Val1798=)
c.5358G= (p.Val1786=)
c.1372G=
c.2836G=
n.2752G=
c.4872G= (p.Val1624=)
c.5622G= (p.Val1874=)
c.5523G= (p.Val1841=)
c.5457G= (p.Val1819=)
c.5439G= (p.Val1813=)
c.5091G= (p.Val1697=)
c.4971G= (p.Val1657=)
n.5213G=
c.5598G= (p.Val1866=)
c.5535G= (p.Val1845=)
c.5526G= (p.Val1842=)
c.5136G= (p.Val1712=)
c.4995G= (p.Val1665=)
c.5427G= (p.Val1809=)
8g.41668303C>GCA460781991ANK1c.5481G>C (p.Val1827=)
c.5577G>C (p.Val1859=)
c.5394G>C (p.Val1798=)
c.5358G>C (p.Val1786=)
c.1372G>C
c.2836G>C
n.2752G>C
c.4872G>C (p.Val1624=)
c.5622G>C (p.Val1874=)
c.5523G>C (p.Val1841=)
c.5457G>C (p.Val1819=)
c.5439G>C (p.Val1813=)
c.5091G>C (p.Val1697=)
c.4971G>C (p.Val1657=)
n.5213G>C
c.5598G>C (p.Val1866=)
c.5535G>C (p.Val1845=)
c.5526G>C (p.Val1842=)
c.5136G>C (p.Val1712=)
c.4995G>C (p.Val1665=)
c.5427G>C (p.Val1809=)
8g.41668303C>TCA460781992ANK1c.5481G>A (p.Val1827=)
c.5577G>A (p.Val1859=)
c.5394G>A (p.Val1798=)
c.5358G>A (p.Val1786=)
c.1372G>A
c.2836G>A
n.2752G>A
c.4872G>A (p.Val1624=)
c.5622G>A (p.Val1874=)
c.5523G>A (p.Val1841=)
c.5457G>A (p.Val1819=)
c.5439G>A (p.Val1813=)
c.5091G>A (p.Val1697=)
c.4971G>A (p.Val1657=)
n.5213G>A
c.5598G>A (p.Val1866=)
c.5535G>A (p.Val1845=)
c.5526G>A (p.Val1842=)
c.5136G>A (p.Val1712=)
c.4995G>A (p.Val1665=)
c.5427G>A (p.Val1809=)
 dbSNP gnomAD v4 COSMIC COSMIC
8g.41668304A>CCA371051016ANK1c.5480T>G (p.Val1827Gly)
c.5576T>G (p.Val1859Gly)
c.5393T>G (p.Val1798Gly)
c.5357T>G (p.Val1786Gly)
c.1371T>G
c.2835T>G
n.2751T>G
c.4871T>G (p.Val1624Gly)
c.5621T>G (p.Val1874Gly)
c.5522T>G (p.Val1841Gly)
c.5456T>G (p.Val1819Gly)
c.5438T>G (p.Val1813Gly)
c.5090T>G (p.Val1697Gly)
c.4970T>G (p.Val1657Gly)
n.5212T>G
c.5597T>G (p.Val1866Gly)
c.5534T>G (p.Val1845Gly)
c.5525T>G (p.Val1842Gly)
c.5135T>G (p.Val1712Gly)
c.4994T>G (p.Val1665Gly)
c.5426T>G (p.Val1809Gly)
8g.41668304A>GCA371051018ANK1c.5480T>C (p.Val1827Ala)
c.5576T>C (p.Val1859Ala)
c.5393T>C (p.Val1798Ala)
c.5357T>C (p.Val1786Ala)
c.1371T>C
c.2835T>C
n.2751T>C
c.4871T>C (p.Val1624Ala)
c.5621T>C (p.Val1874Ala)
c.5522T>C (p.Val1841Ala)
c.5456T>C (p.Val1819Ala)
c.5438T>C (p.Val1813Ala)
c.5090T>C (p.Val1697Ala)
c.4970T>C (p.Val1657Ala)
n.5212T>C
c.5597T>C (p.Val1866Ala)
c.5534T>C (p.Val1845Ala)
c.5525T>C (p.Val1842Ala)
c.5135T>C (p.Val1712Ala)
c.4994T>C (p.Val1665Ala)
c.5426T>C (p.Val1809Ala)
8g.41668304A>TCA371051014ANK1c.5480T>A (p.Val1827Glu)
c.5576T>A (p.Val1859Glu)
c.5393T>A (p.Val1798Glu)
c.5357T>A (p.Val1786Glu)
c.1371T>A
c.2835T>A
n.2751T>A
c.4871T>A (p.Val1624Glu)
c.5621T>A (p.Val1874Glu)
c.5522T>A (p.Val1841Glu)
c.5456T>A (p.Val1819Glu)
c.5438T>A (p.Val1813Glu)
c.5090T>A (p.Val1697Glu)
c.4970T>A (p.Val1657Glu)
n.5212T>A
c.5597T>A (p.Val1866Glu)
c.5534T>A (p.Val1845Glu)
c.5525T>A (p.Val1842Glu)
c.5135T>A (p.Val1712Glu)
c.4994T>A (p.Val1665Glu)
c.5426T>A (p.Val1809Glu)
8g.41668305C>ACA371051021ANK1c.5479G>T (p.Val1827Leu)
c.5575G>T (p.Val1859Leu)
c.5392G>T (p.Val1798Leu)
c.5356G>T (p.Val1786Leu)
c.1370G>T
c.2834G>T
n.2750G>T
c.4870G>T (p.Val1624Leu)
c.5620G>T (p.Val1874Leu)
c.5521G>T (p.Val1841Leu)
c.5455G>T (p.Val1819Leu)
c.5437G>T (p.Val1813Leu)
c.5089G>T (p.Val1697Leu)
c.4969G>T (p.Val1657Leu)
n.5211G>T
c.5596G>T (p.Val1866Leu)
c.5533G>T (p.Val1845Leu)
c.5524G>T (p.Val1842Leu)
c.5134G>T (p.Val1712Leu)
c.4993G>T (p.Val1665Leu)
c.5425G>T (p.Val1809Leu)
8g.41668305C>GCA371051024ANK1c.5479G>C (p.Val1827Leu)
c.5575G>C (p.Val1859Leu)
c.5392G>C (p.Val1798Leu)
c.5356G>C (p.Val1786Leu)
c.1370G>C
c.2834G>C
n.2750G>C
c.4870G>C (p.Val1624Leu)
c.5620G>C (p.Val1874Leu)
c.5521G>C (p.Val1841Leu)
c.5455G>C (p.Val1819Leu)
c.5437G>C (p.Val1813Leu)
c.5089G>C (p.Val1697Leu)
c.4969G>C (p.Val1657Leu)
n.5211G>C
c.5596G>C (p.Val1866Leu)
c.5533G>C (p.Val1845Leu)
c.5524G>C (p.Val1842Leu)
c.5134G>C (p.Val1712Leu)
c.4993G>C (p.Val1665Leu)
c.5425G>C (p.Val1809Leu)
8g.41668305C>TCA371051022ANK1c.5479G>A (p.Val1827Met)
c.5575G>A (p.Val1859Met)
c.5392G>A (p.Val1798Met)
c.5356G>A (p.Val1786Met)
c.1370G>A
c.2834G>A
n.2750G>A
c.4870G>A (p.Val1624Met)
c.5620G>A (p.Val1874Met)
c.5521G>A (p.Val1841Met)
c.5455G>A (p.Val1819Met)
c.5437G>A (p.Val1813Met)
c.5089G>A (p.Val1697Met)
c.4969G>A (p.Val1657Met)
n.5211G>A
c.5596G>A (p.Val1866Met)
c.5533G>A (p.Val1845Met)
c.5524G>A (p.Val1842Met)
c.5134G>A (p.Val1712Met)
c.4993G>A (p.Val1665Met)
c.5425G>A (p.Val1809Met)
8g.41668306C>ACA371051027ANK1c.5478G>T (p.Gln1826His)
c.5574G>T (p.Gln1858His)
c.5391G>T (p.Gln1797His)
c.5355G>T (p.Gln1785His)
c.1369G>T
c.2833G>T
n.2749G>T
c.4869G>T (p.Gln1623His)
c.5619G>T (p.Gln1873His)
c.5520G>T (p.Gln1840His)
c.5454G>T (p.Gln1818His)
c.5436G>T (p.Gln1812His)
c.5088G>T (p.Gln1696His)
c.4968G>T (p.Gln1656His)
n.5210G>T
c.5595G>T (p.Gln1865His)
c.5532G>T (p.Gln1844His)
c.5523G>T (p.Gln1841His)
c.5133G>T (p.Gln1711His)
c.4992G>T (p.Gln1664His)
c.5424G>T (p.Gln1808His)
 dbSNP gnomAD v2 gnomAD v4
8g.41668306C=CA1779071017ANK1c.5478G= (p.Gln1826=)
c.5574G= (p.Gln1858=)
c.5391G= (p.Gln1797=)
c.5355G= (p.Gln1785=)
c.1369G=
c.2833G=
n.2749G=
c.4869G= (p.Gln1623=)
c.5619G= (p.Gln1873=)
c.5520G= (p.Gln1840=)
c.5454G= (p.Gln1818=)
c.5436G= (p.Gln1812=)
c.5088G= (p.Gln1696=)
c.4968G= (p.Gln1656=)
n.5210G=
c.5595G= (p.Gln1865=)
c.5532G= (p.Gln1844=)
c.5523G= (p.Gln1841=)
c.5133G= (p.Gln1711=)
c.4992G= (p.Gln1664=)
c.5424G= (p.Gln1808=)
8g.41668306C>GCA371051030ANK1c.5478G>C (p.Gln1826His)
c.5574G>C (p.Gln1858His)
c.5391G>C (p.Gln1797His)
c.5355G>C (p.Gln1785His)
c.1369G>C
c.2833G>C
n.2749G>C
c.4869G>C (p.Gln1623His)
c.5619G>C (p.Gln1873His)
c.5520G>C (p.Gln1840His)
c.5454G>C (p.Gln1818His)
c.5436G>C (p.Gln1812His)
c.5088G>C (p.Gln1696His)
c.4968G>C (p.Gln1656His)
n.5210G>C
c.5595G>C (p.Gln1865His)
c.5532G>C (p.Gln1844His)
c.5523G>C (p.Gln1841His)
c.5133G>C (p.Gln1711His)
c.4992G>C (p.Gln1664His)
c.5424G>C (p.Gln1808His)
8g.41668306C>TCA460781993ANK1c.5478G>A (p.Gln1826=)
c.5574G>A (p.Gln1858=)
c.5391G>A (p.Gln1797=)
c.5355G>A (p.Gln1785=)
c.1369G>A
c.2833G>A
n.2749G>A
c.4869G>A (p.Gln1623=)
c.5619G>A (p.Gln1873=)
c.5520G>A (p.Gln1840=)
c.5454G>A (p.Gln1818=)
c.5436G>A (p.Gln1812=)
c.5088G>A (p.Gln1696=)
c.4968G>A (p.Gln1656=)
n.5210G>A
c.5595G>A (p.Gln1865=)
c.5532G>A (p.Gln1844=)
c.5523G>A (p.Gln1841=)
c.5133G>A (p.Gln1711=)
c.4992G>A (p.Gln1664=)
c.5424G>A (p.Gln1808=)
8g.41668307T>ACA371051033ANK1c.5477A>T (p.Gln1826Leu)
c.5573A>T (p.Gln1858Leu)
c.5390A>T (p.Gln1797Leu)
c.5354A>T (p.Gln1785Leu)
c.1368A>T
c.2832A>T
n.2748A>T
c.4868A>T (p.Gln1623Leu)
c.5618A>T (p.Gln1873Leu)
c.5519A>T (p.Gln1840Leu)
c.5453A>T (p.Gln1818Leu)
c.5435A>T (p.Gln1812Leu)
c.5087A>T (p.Gln1696Leu)
c.4967A>T (p.Gln1656Leu)
n.5209A>T
c.5594A>T (p.Gln1865Leu)
c.5531A>T (p.Gln1844Leu)
c.5522A>T (p.Gln1841Leu)
c.5132A>T (p.Gln1711Leu)
c.4991A>T (p.Gln1664Leu)
c.5423A>T (p.Gln1808Leu)
8g.41668307T>CCA371051035ANK1c.5477A>G (p.Gln1826Arg)
c.5573A>G (p.Gln1858Arg)
c.5390A>G (p.Gln1797Arg)
c.5354A>G (p.Gln1785Arg)
c.1368A>G
c.2832A>G
n.2748A>G
c.4868A>G (p.Gln1623Arg)
c.5618A>G (p.Gln1873Arg)
c.5519A>G (p.Gln1840Arg)
c.5453A>G (p.Gln1818Arg)
c.5435A>G (p.Gln1812Arg)
c.5087A>G (p.Gln1696Arg)
c.4967A>G (p.Gln1656Arg)
n.5209A>G
c.5594A>G (p.Gln1865Arg)
c.5531A>G (p.Gln1844Arg)
c.5522A>G (p.Gln1841Arg)
c.5132A>G (p.Gln1711Arg)
c.4991A>G (p.Gln1664Arg)
c.5423A>G (p.Gln1808Arg)
 gnomAD v4
8g.41668307T>GCA371051037ANK1c.5477A>C (p.Gln1826Pro)
c.5573A>C (p.Gln1858Pro)
c.5390A>C (p.Gln1797Pro)
c.5354A>C (p.Gln1785Pro)
c.1368A>C
c.2832A>C
n.2748A>C
c.4868A>C (p.Gln1623Pro)
c.5618A>C (p.Gln1873Pro)
c.5519A>C (p.Gln1840Pro)
c.5453A>C (p.Gln1818Pro)
c.5435A>C (p.Gln1812Pro)
c.5087A>C (p.Gln1696Pro)
c.4967A>C (p.Gln1656Pro)
n.5209A>C
c.5594A>C (p.Gln1865Pro)
c.5531A>C (p.Gln1844Pro)
c.5522A>C (p.Gln1841Pro)
c.5132A>C (p.Gln1711Pro)
c.4991A>C (p.Gln1664Pro)
c.5423A>C (p.Gln1808Pro)
8g.41668308G>ACA371051041ANK1c.5476C>T (p.Gln1826Ter)
c.5572C>T (p.Gln1858Ter)
c.5389C>T (p.Gln1797Ter)
c.5353C>T (p.Gln1785Ter)
c.1367C>T
c.2831C>T
n.2747C>T
c.4867C>T (p.Gln1623Ter)
c.5617C>T (p.Gln1873Ter)
c.5518C>T (p.Gln1840Ter)
c.5452C>T (p.Gln1818Ter)
c.5434C>T (p.Gln1812Ter)
c.5086C>T (p.Gln1696Ter)
c.4966C>T (p.Gln1656Ter)
n.5208C>T
c.5593C>T (p.Gln1865Ter)
c.5530C>T (p.Gln1844Ter)
c.5521C>T (p.Gln1841Ter)
c.5131C>T (p.Gln1711Ter)
c.4990C>T (p.Gln1664Ter)
c.5422C>T (p.Gln1808Ter)
8g.41668308G>CCA371051043ANK1c.5476C>G (p.Gln1826Glu)
c.5572C>G (p.Gln1858Glu)
c.5389C>G (p.Gln1797Glu)
c.5353C>G (p.Gln1785Glu)
c.1367C>G
c.2831C>G
n.2747C>G
c.4867C>G (p.Gln1623Glu)
c.5617C>G (p.Gln1873Glu)
c.5518C>G (p.Gln1840Glu)
c.5452C>G (p.Gln1818Glu)
c.5434C>G (p.Gln1812Glu)
c.5086C>G (p.Gln1696Glu)
c.4966C>G (p.Gln1656Glu)
n.5208C>G
c.5593C>G (p.Gln1865Glu)
c.5530C>G (p.Gln1844Glu)
c.5521C>G (p.Gln1841Glu)
c.5131C>G (p.Gln1711Glu)
c.4990C>G (p.Gln1664Glu)
c.5422C>G (p.Gln1808Glu)
 dbSNP gnomAD v3 gnomAD v4
8g.41668308G=CA1779071020ANK1c.5476C= (p.Gln1826=)
c.5572C= (p.Gln1858=)
c.5389C= (p.Gln1797=)
c.5353C= (p.Gln1785=)
c.1367C=
c.2831C=
n.2747C=
c.4867C= (p.Gln1623=)
c.5617C= (p.Gln1873=)
c.5518C= (p.Gln1840=)
c.5452C= (p.Gln1818=)
c.5434C= (p.Gln1812=)
c.5086C= (p.Gln1696=)
c.4966C= (p.Gln1656=)
n.5208C=
c.5593C= (p.Gln1865=)
c.5530C= (p.Gln1844=)
c.5521C= (p.Gln1841=)
c.5131C= (p.Gln1711=)
c.4990C= (p.Gln1664=)
c.5422C= (p.Gln1808=)
8g.41668308G>TCA371051045ANK1c.5476C>A (p.Gln1826Lys)
c.5572C>A (p.Gln1858Lys)
c.5389C>A (p.Gln1797Lys)
c.5353C>A (p.Gln1785Lys)
c.1367C>A
c.2831C>A
n.2747C>A
c.4867C>A (p.Gln1623Lys)
c.5617C>A (p.Gln1873Lys)
c.5518C>A (p.Gln1840Lys)
c.5452C>A (p.Gln1818Lys)
c.5434C>A (p.Gln1812Lys)
c.5086C>A (p.Gln1696Lys)
c.4966C>A (p.Gln1656Lys)
n.5208C>A
c.5593C>A (p.Gln1865Lys)
c.5530C>A (p.Gln1844Lys)
c.5521C>A (p.Gln1841Lys)
c.5131C>A (p.Gln1711Lys)
c.4990C>A (p.Gln1664Lys)
c.5422C>A (p.Gln1808Lys)
8g.41668309C>ACA371051048ANK1c.5475G>T (p.Glu1825Asp)
c.5571G>T (p.Glu1857Asp)
c.5388G>T (p.Glu1796Asp)
c.5352G>T (p.Glu1784Asp)
c.1366G>T
c.2830G>T
n.2746G>T
c.4866G>T (p.Glu1622Asp)
c.5616G>T (p.Glu1872Asp)
c.5517G>T (p.Glu1839Asp)
c.5451G>T (p.Glu1817Asp)
c.5433G>T (p.Glu1811Asp)
c.5085G>T (p.Glu1695Asp)
c.4965G>T (p.Glu1655Asp)
n.5207G>T
c.5592G>T (p.Glu1864Asp)
c.5529G>T (p.Glu1843Asp)
c.5520G>T (p.Glu1840Asp)
c.5130G>T (p.Glu1710Asp)
c.4989G>T (p.Glu1663Asp)
c.5421G>T (p.Glu1807Asp)
8g.41668309C=CA1779071024ANK1c.5475G= (p.Glu1825=)
c.5571G= (p.Glu1857=)
c.5388G= (p.Glu1796=)
c.5352G= (p.Glu1784=)
c.1366G=
c.2830G=
n.2746G=
c.4866G= (p.Glu1622=)
c.5616G= (p.Glu1872=)
c.5517G= (p.Glu1839=)
c.5451G= (p.Glu1817=)
c.5433G= (p.Glu1811=)
c.5085G= (p.Glu1695=)
c.4965G= (p.Glu1655=)
n.5207G=
c.5592G= (p.Glu1864=)
c.5529G= (p.Glu1843=)
c.5520G= (p.Glu1840=)
c.5130G= (p.Glu1710=)
c.4989G= (p.Glu1663=)
c.5421G= (p.Glu1807=)
8g.41668309C>GCA371051050ANK1c.5475G>C (p.Glu1825Asp)
c.5571G>C (p.Glu1857Asp)
c.5388G>C (p.Glu1796Asp)
c.5352G>C (p.Glu1784Asp)
c.1366G>C
c.2830G>C
n.2746G>C
c.4866G>C (p.Glu1622Asp)
c.5616G>C (p.Glu1872Asp)
c.5517G>C (p.Glu1839Asp)
c.5451G>C (p.Glu1817Asp)
c.5433G>C (p.Glu1811Asp)
c.5085G>C (p.Glu1695Asp)
c.4965G>C (p.Glu1655Asp)
n.5207G>C
c.5592G>C (p.Glu1864Asp)
c.5529G>C (p.Glu1843Asp)
c.5520G>C (p.Glu1840Asp)
c.5130G>C (p.Glu1710Asp)
c.4989G>C (p.Glu1663Asp)
c.5421G>C (p.Glu1807Asp)
8g.41668309C>TCA460781994ANK1c.5475G>A (p.Glu1825=)
c.5571G>A (p.Glu1857=)
c.5388G>A (p.Glu1796=)
c.5352G>A (p.Glu1784=)
c.1366G>A
c.2830G>A
n.2746G>A
c.4866G>A (p.Glu1622=)
c.5616G>A (p.Glu1872=)
c.5517G>A (p.Glu1839=)
c.5451G>A (p.Glu1817=)
c.5433G>A (p.Glu1811=)
c.5085G>A (p.Glu1695=)
c.4965G>A (p.Glu1655=)
n.5207G>A
c.5592G>A (p.Glu1864=)
c.5529G>A (p.Glu1843=)
c.5520G>A (p.Glu1840=)
c.5130G>A (p.Glu1710=)
c.4989G>A (p.Glu1663=)
c.5421G>A (p.Glu1807=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
8g.41668310T>ACA371051053ANK1c.5474A>T (p.Glu1825Val)
c.5570A>T (p.Glu1857Val)
c.5387A>T (p.Glu1796Val)
c.5351A>T (p.Glu1784Val)
c.1365A>T
c.2829A>T
n.2745A>T
c.4865A>T (p.Glu1622Val)
c.5615A>T (p.Glu1872Val)
c.5516A>T (p.Glu1839Val)
c.5450A>T (p.Glu1817Val)
c.5432A>T (p.Glu1811Val)
c.5084A>T (p.Glu1695Val)
c.4964A>T (p.Glu1655Val)
n.5206A>T
c.5591A>T (p.Glu1864Val)
c.5528A>T (p.Glu1843Val)
c.5519A>T (p.Glu1840Val)
c.5129A>T (p.Glu1710Val)
c.4988A>T (p.Glu1663Val)
c.5420A>T (p.Glu1807Val)
8g.41668310T>CCA371051055ANK1c.5474A>G (p.Glu1825Gly)
c.5570A>G (p.Glu1857Gly)
c.5387A>G (p.Glu1796Gly)
c.5351A>G (p.Glu1784Gly)
c.1365A>G
c.2829A>G
n.2745A>G
c.4865A>G (p.Glu1622Gly)
c.5615A>G (p.Glu1872Gly)
c.5516A>G (p.Glu1839Gly)
c.5450A>G (p.Glu1817Gly)
c.5432A>G (p.Glu1811Gly)
c.5084A>G (p.Glu1695Gly)
c.4964A>G (p.Glu1655Gly)
n.5206A>G
c.5591A>G (p.Glu1864Gly)
c.5528A>G (p.Glu1843Gly)
c.5519A>G (p.Glu1840Gly)
c.5129A>G (p.Glu1710Gly)
c.4988A>G (p.Glu1663Gly)
c.5420A>G (p.Glu1807Gly)
8g.41668310T>GCA371051057ANK1c.5474A>C (p.Glu1825Ala)
c.5570A>C (p.Glu1857Ala)
c.5387A>C (p.Glu1796Ala)
c.5351A>C (p.Glu1784Ala)
c.1365A>C
c.2829A>C
n.2745A>C
c.4865A>C (p.Glu1622Ala)
c.5615A>C (p.Glu1872Ala)
c.5516A>C (p.Glu1839Ala)
c.5450A>C (p.Glu1817Ala)
c.5432A>C (p.Glu1811Ala)
c.5084A>C (p.Glu1695Ala)
c.4964A>C (p.Glu1655Ala)
n.5206A>C
c.5591A>C (p.Glu1864Ala)
c.5528A>C (p.Glu1843Ala)
c.5519A>C (p.Glu1840Ala)
c.5129A>C (p.Glu1710Ala)
c.4988A>C (p.Glu1663Ala)
c.5420A>C (p.Glu1807Ala)
8g.41668311C>ACA371051061ANK1c.5473G>T (p.Glu1825Ter)
c.5569G>T (p.Glu1857Ter)
c.5386G>T (p.Glu1796Ter)
c.5350G>T (p.Glu1784Ter)
c.1364G>T
c.2828G>T
n.2744G>T
c.4864G>T (p.Glu1622Ter)
c.5614G>T (p.Glu1872Ter)
c.5515G>T (p.Glu1839Ter)
c.5449G>T (p.Glu1817Ter)
c.5431G>T (p.Glu1811Ter)
c.5083G>T (p.Glu1695Ter)
c.4963G>T (p.Glu1655Ter)
n.5205G>T
c.5590G>T (p.Glu1864Ter)
c.5527G>T (p.Glu1843Ter)
c.5518G>T (p.Glu1840Ter)
c.5128G>T (p.Glu1710Ter)
c.4987G>T (p.Glu1663Ter)
c.5419G>T (p.Glu1807Ter)
8g.41668311C=CA1779071025ANK1c.5473G= (p.Glu1825=)
c.5569G= (p.Glu1857=)
c.5386G= (p.Glu1796=)
c.5350G= (p.Glu1784=)
c.1364G=
c.2828G=
n.2744G=
c.4864G= (p.Glu1622=)
c.5614G= (p.Glu1872=)
c.5515G= (p.Glu1839=)
c.5449G= (p.Glu1817=)
c.5431G= (p.Glu1811=)
c.5083G= (p.Glu1695=)
c.4963G= (p.Glu1655=)
n.5205G=
c.5590G= (p.Glu1864=)
c.5527G= (p.Glu1843=)
c.5518G= (p.Glu1840=)
c.5128G= (p.Glu1710=)
c.4987G= (p.Glu1663=)
c.5419G= (p.Glu1807=)
8g.41668311C>GCA371051066ANK1c.5473G>C (p.Glu1825Gln)
c.5569G>C (p.Glu1857Gln)
c.5386G>C (p.Glu1796Gln)
c.5350G>C (p.Glu1784Gln)
c.1364G>C
c.2828G>C
n.2744G>C
c.4864G>C (p.Glu1622Gln)
c.5614G>C (p.Glu1872Gln)
c.5515G>C (p.Glu1839Gln)
c.5449G>C (p.Glu1817Gln)
c.5431G>C (p.Glu1811Gln)
c.5083G>C (p.Glu1695Gln)
c.4963G>C (p.Glu1655Gln)
n.5205G>C
c.5590G>C (p.Glu1864Gln)
c.5527G>C (p.Glu1843Gln)
c.5518G>C (p.Glu1840Gln)
c.5128G>C (p.Glu1710Gln)
c.4987G>C (p.Glu1663Gln)
c.5419G>C (p.Glu1807Gln)
8g.41668311C>TCA371051063ANK1c.5473G>A (p.Glu1825Lys)
c.5569G>A (p.Glu1857Lys)
c.5386G>A (p.Glu1796Lys)
c.5350G>A (p.Glu1784Lys)
c.1364G>A
c.2828G>A
n.2744G>A
c.4864G>A (p.Glu1622Lys)
c.5614G>A (p.Glu1872Lys)
c.5515G>A (p.Glu1839Lys)
c.5449G>A (p.Glu1817Lys)
c.5431G>A (p.Glu1811Lys)
c.5083G>A (p.Glu1695Lys)
c.4963G>A (p.Glu1655Lys)
n.5205G>A
c.5590G>A (p.Glu1864Lys)
c.5527G>A (p.Glu1843Lys)
c.5518G>A (p.Glu1840Lys)
c.5128G>A (p.Glu1710Lys)
c.4987G>A (p.Glu1663Lys)
c.5419G>A (p.Glu1807Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.41668312T>ACA371051069ANK1c.5472A>T (p.Glu1824Asp)
c.5568A>T (p.Glu1856Asp)
c.5385A>T (p.Glu1795Asp)
c.5349A>T (p.Glu1783Asp)
c.1363A>T
c.2827A>T
n.2743A>T
c.4863A>T (p.Glu1621Asp)
c.5613A>T (p.Glu1871Asp)
c.5514A>T (p.Glu1838Asp)
c.5448A>T (p.Glu1816Asp)
c.5430A>T (p.Glu1810Asp)
c.5082A>T (p.Glu1694Asp)
c.4962A>T (p.Glu1654Asp)
n.5204A>T
c.5589A>T (p.Glu1863Asp)
c.5526A>T (p.Glu1842Asp)
c.5517A>T (p.Glu1839Asp)
c.5127A>T (p.Glu1709Asp)
c.4986A>T (p.Glu1662Asp)
c.5418A>T (p.Glu1806Asp)
8g.41668312T>CCA460781995ANK1c.5472A>G (p.Glu1824=)
c.5568A>G (p.Glu1856=)
c.5385A>G (p.Glu1795=)
c.5349A>G (p.Glu1783=)
c.1363A>G
c.2827A>G
n.2743A>G
c.4863A>G (p.Glu1621=)
c.5613A>G (p.Glu1871=)
c.5514A>G (p.Glu1838=)
c.5448A>G (p.Glu1816=)
c.5430A>G (p.Glu1810=)
c.5082A>G (p.Glu1694=)
c.4962A>G (p.Glu1654=)
n.5204A>G
c.5589A>G (p.Glu1863=)
c.5526A>G (p.Glu1842=)
c.5517A>G (p.Glu1839=)
c.5127A>G (p.Glu1709=)
c.4986A>G (p.Glu1662=)
c.5418A>G (p.Glu1806=)
8g.41668312T>GCA371051071ANK1c.5472A>C (p.Glu1824Asp)
c.5568A>C (p.Glu1856Asp)
c.5385A>C (p.Glu1795Asp)
c.5349A>C (p.Glu1783Asp)
c.1363A>C
c.2827A>C
n.2743A>C
c.4863A>C (p.Glu1621Asp)
c.5613A>C (p.Glu1871Asp)
c.5514A>C (p.Glu1838Asp)
c.5448A>C (p.Glu1816Asp)
c.5430A>C (p.Glu1810Asp)
c.5082A>C (p.Glu1694Asp)
c.4962A>C (p.Glu1654Asp)
n.5204A>C
c.5589A>C (p.Glu1863Asp)
c.5526A>C (p.Glu1842Asp)
c.5517A>C (p.Glu1839Asp)
c.5127A>C (p.Glu1709Asp)
c.4986A>C (p.Glu1662Asp)
c.5418A>C (p.Glu1806Asp)
8g.41668313T>ACA371051074ANK1c.5471A>T (p.Glu1824Val)
c.5567A>T (p.Glu1856Val)
c.5384A>T (p.Glu1795Val)
c.5348A>T (p.Glu1783Val)
c.1362A>T
c.2826A>T
n.2742A>T
c.4862A>T (p.Glu1621Val)
c.5612A>T (p.Glu1871Val)
c.5513A>T (p.Glu1838Val)
c.5447A>T (p.Glu1816Val)
c.5429A>T (p.Glu1810Val)
c.5081A>T (p.Glu1694Val)
c.4961A>T (p.Glu1654Val)
n.5203A>T
c.5588A>T (p.Glu1863Val)
c.5525A>T (p.Glu1842Val)
c.5516A>T (p.Glu1839Val)
c.5126A>T (p.Glu1709Val)
c.4985A>T (p.Glu1662Val)
c.5417A>T (p.Glu1806Val)
8g.41668313T>CCA371051077ANK1c.5471A>G (p.Glu1824Gly)
c.5567A>G (p.Glu1856Gly)
c.5384A>G (p.Glu1795Gly)
c.5348A>G (p.Glu1783Gly)
c.1362A>G
c.2826A>G
n.2742A>G
c.4862A>G (p.Glu1621Gly)
c.5612A>G (p.Glu1871Gly)
c.5513A>G (p.Glu1838Gly)
c.5447A>G (p.Glu1816Gly)
c.5429A>G (p.Glu1810Gly)
c.5081A>G (p.Glu1694Gly)
c.4961A>G (p.Glu1654Gly)
n.5203A>G
c.5588A>G (p.Glu1863Gly)
c.5525A>G (p.Glu1842Gly)
c.5516A>G (p.Glu1839Gly)
c.5126A>G (p.Glu1709Gly)
c.4985A>G (p.Glu1662Gly)
c.5417A>G (p.Glu1806Gly)
 COSMIC COSMIC
8g.41668313T>GCA371051078ANK1c.5471A>C (p.Glu1824Ala)
c.5567A>C (p.Glu1856Ala)
c.5384A>C (p.Glu1795Ala)
c.5348A>C (p.Glu1783Ala)
c.1362A>C
c.2826A>C
n.2742A>C
c.4862A>C (p.Glu1621Ala)
c.5612A>C (p.Glu1871Ala)
c.5513A>C (p.Glu1838Ala)
c.5447A>C (p.Glu1816Ala)
c.5429A>C (p.Glu1810Ala)
c.5081A>C (p.Glu1694Ala)
c.4961A>C (p.Glu1654Ala)
n.5203A>C
c.5588A>C (p.Glu1863Ala)
c.5525A>C (p.Glu1842Ala)
c.5516A>C (p.Glu1839Ala)
c.5126A>C (p.Glu1709Ala)
c.4985A>C (p.Glu1662Ala)
c.5417A>C (p.Glu1806Ala)
8g.41668314C>ACA371051081ANK1c.5470G>T (p.Glu1824Ter)
c.5566G>T (p.Glu1856Ter)
c.5383G>T (p.Glu1795Ter)
c.5347G>T (p.Glu1783Ter)
c.1361G>T
c.2825G>T
n.2741G>T
c.4861G>T (p.Glu1621Ter)
c.5611G>T (p.Glu1871Ter)
c.5512G>T (p.Glu1838Ter)
c.5446G>T (p.Glu1816Ter)
c.5428G>T (p.Glu1810Ter)
c.5080G>T (p.Glu1694Ter)
c.4960G>T (p.Glu1654Ter)
n.5202G>T
c.5587G>T (p.Glu1863Ter)
c.5524G>T (p.Glu1842Ter)
c.5515G>T (p.Glu1839Ter)
c.5125G>T (p.Glu1709Ter)
c.4984G>T (p.Glu1662Ter)
c.5416G>T (p.Glu1806Ter)
8g.41668314C>GCA371051083ANK1c.5470G>C (p.Glu1824Gln)
c.5566G>C (p.Glu1856Gln)
c.5383G>C (p.Glu1795Gln)
c.5347G>C (p.Glu1783Gln)
c.1361G>C
c.2825G>C
n.2741G>C
c.4861G>C (p.Glu1621Gln)
c.5611G>C (p.Glu1871Gln)
c.5512G>C (p.Glu1838Gln)
c.5446G>C (p.Glu1816Gln)
c.5428G>C (p.Glu1810Gln)
c.5080G>C (p.Glu1694Gln)
c.4960G>C (p.Glu1654Gln)
n.5202G>C
c.5587G>C (p.Glu1863Gln)
c.5524G>C (p.Glu1842Gln)
c.5515G>C (p.Glu1839Gln)
c.5125G>C (p.Glu1709Gln)
c.4984G>C (p.Glu1662Gln)
c.5416G>C (p.Glu1806Gln)
8g.41668314C>TCA371051085ANK1c.5470G>A (p.Glu1824Lys)
c.5566G>A (p.Glu1856Lys)
c.5383G>A (p.Glu1795Lys)
c.5347G>A (p.Glu1783Lys)
c.1361G>A
c.2825G>A
n.2741G>A
c.4861G>A (p.Glu1621Lys)
c.5611G>A (p.Glu1871Lys)
c.5512G>A (p.Glu1838Lys)
c.5446G>A (p.Glu1816Lys)
c.5428G>A (p.Glu1810Lys)
c.5080G>A (p.Glu1694Lys)
c.4960G>A (p.Glu1654Lys)
n.5202G>A
c.5587G>A (p.Glu1863Lys)
c.5524G>A (p.Glu1842Lys)
c.5515G>A (p.Glu1839Lys)
c.5125G>A (p.Glu1709Lys)
c.4984G>A (p.Glu1662Lys)
c.5416G>A (p.Glu1806Lys)
8g.41668315T>ACA371051088ANK1c.5469A>T (p.Gln1823His)
c.5565A>T (p.Gln1855His)
c.5382A>T (p.Gln1794His)
c.5346A>T (p.Gln1782His)
c.1360A>T
c.2824A>T
n.2740A>T
c.4860A>T (p.Gln1620His)
c.5610A>T (p.Gln1870His)
c.5511A>T (p.Gln1837His)
c.5445A>T (p.Gln1815His)
c.5427A>T (p.Gln1809His)
c.5079A>T (p.Gln1693His)
c.4959A>T (p.Gln1653His)
n.5201A>T
c.5586A>T (p.Gln1862His)
c.5523A>T (p.Gln1841His)
c.5514A>T (p.Gln1838His)
c.5124A>T (p.Gln1708His)
c.4983A>T (p.Gln1661His)
c.5415A>T (p.Gln1805His)
8g.41668315T>CCA460781996ANK1c.5469A>G (p.Gln1823=)
c.5565A>G (p.Gln1855=)
c.5382A>G (p.Gln1794=)
c.5346A>G (p.Gln1782=)
c.1360A>G
c.2824A>G
n.2740A>G
c.4860A>G (p.Gln1620=)
c.5610A>G (p.Gln1870=)
c.5511A>G (p.Gln1837=)
c.5445A>G (p.Gln1815=)
c.5427A>G (p.Gln1809=)
c.5079A>G (p.Gln1693=)
c.4959A>G (p.Gln1653=)
n.5201A>G
c.5586A>G (p.Gln1862=)
c.5523A>G (p.Gln1841=)
c.5514A>G (p.Gln1838=)
c.5124A>G (p.Gln1708=)
c.4983A>G (p.Gln1661=)
c.5415A>G (p.Gln1805=)
8g.41668315T>GCA371051090ANK1c.5469A>C (p.Gln1823His)
c.5565A>C (p.Gln1855His)
c.5382A>C (p.Gln1794His)
c.5346A>C (p.Gln1782His)
c.1360A>C
c.2824A>C
n.2740A>C
c.4860A>C (p.Gln1620His)
c.5610A>C (p.Gln1870His)
c.5511A>C (p.Gln1837His)
c.5445A>C (p.Gln1815His)
c.5427A>C (p.Gln1809His)
c.5079A>C (p.Gln1693His)
c.4959A>C (p.Gln1653His)
n.5201A>C
c.5586A>C (p.Gln1862His)
c.5523A>C (p.Gln1841His)
c.5514A>C (p.Gln1838His)
c.5124A>C (p.Gln1708His)
c.4983A>C (p.Gln1661His)
c.5415A>C (p.Gln1805His)
8g.41668316T>ACA371051096ANK1c.5468A>T (p.Gln1823Leu)
c.5564A>T (p.Gln1855Leu)
c.5381A>T (p.Gln1794Leu)
c.5345A>T (p.Gln1782Leu)
c.1359A>T
c.2823A>T
n.2739A>T
c.4859A>T (p.Gln1620Leu)
c.5609A>T (p.Gln1870Leu)
c.5510A>T (p.Gln1837Leu)
c.5444A>T (p.Gln1815Leu)
c.5426A>T (p.Gln1809Leu)
c.5078A>T (p.Gln1693Leu)
c.4958A>T (p.Gln1653Leu)
n.5200A>T
c.5585A>T (p.Gln1862Leu)
c.5522A>T (p.Gln1841Leu)
c.5513A>T (p.Gln1838Leu)
c.5123A>T (p.Gln1708Leu)
c.4982A>T (p.Gln1661Leu)
c.5414A>T (p.Gln1805Leu)
8g.41668316T>CCA4727311ANK1c.5468A>G (p.Gln1823Arg)
c.5564A>G (p.Gln1855Arg)
c.5381A>G (p.Gln1794Arg)
c.5345A>G (p.Gln1782Arg)
c.1359A>G
c.2823A>G
n.2739A>G
c.4859A>G (p.Gln1620Arg)
c.5609A>G (p.Gln1870Arg)
c.5510A>G (p.Gln1837Arg)
c.5444A>G (p.Gln1815Arg)
c.5426A>G (p.Gln1809Arg)
c.5078A>G (p.Gln1693Arg)
c.4958A>G (p.Gln1653Arg)
n.5200A>G
c.5585A>G (p.Gln1862Arg)
c.5522A>G (p.Gln1841Arg)
c.5513A>G (p.Gln1838Arg)
c.5123A>G (p.Gln1708Arg)
c.4982A>G (p.Gln1661Arg)
c.5414A>G (p.Gln1805Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.41668316T>GCA371051093ANK1c.5468A>C (p.Gln1823Pro)
c.5564A>C (p.Gln1855Pro)
c.5381A>C (p.Gln1794Pro)
c.5345A>C (p.Gln1782Pro)
c.1359A>C
c.2823A>C
n.2739A>C
c.4859A>C (p.Gln1620Pro)
c.5609A>C (p.Gln1870Pro)
c.5510A>C (p.Gln1837Pro)
c.5444A>C (p.Gln1815Pro)
c.5426A>C (p.Gln1809Pro)
c.5078A>C (p.Gln1693Pro)
c.4958A>C (p.Gln1653Pro)
n.5200A>C
c.5585A>C (p.Gln1862Pro)
c.5522A>C (p.Gln1841Pro)
c.5513A>C (p.Gln1838Pro)
c.5123A>C (p.Gln1708Pro)
c.4982A>C (p.Gln1661Pro)
c.5414A>C (p.Gln1805Pro)
8g.41668316T=CA1779071026ANK1c.5468A= (p.Gln1823=)
c.5564A= (p.Gln1855=)
c.5381A= (p.Gln1794=)
c.5345A= (p.Gln1782=)
c.1359A=
c.2823A=
n.2739A=
c.4859A= (p.Gln1620=)
c.5609A= (p.Gln1870=)
c.5510A= (p.Gln1837=)
c.5444A= (p.Gln1815=)
c.5426A= (p.Gln1809=)
c.5078A= (p.Gln1693=)
c.4958A= (p.Gln1653=)
n.5200A=
c.5585A= (p.Gln1862=)
c.5522A= (p.Gln1841=)
c.5513A= (p.Gln1838=)
c.5123A= (p.Gln1708=)
c.4982A= (p.Gln1661=)
c.5414A= (p.Gln1805=)
8g.41668317G>ACA371051100ANK1c.5467C>T (p.Gln1823Ter)
c.5563C>T (p.Gln1855Ter)
c.5380C>T (p.Gln1794Ter)
c.5344C>T (p.Gln1782Ter)
c.1358C>T
c.2822C>T
n.2738C>T
c.4858C>T (p.Gln1620Ter)
c.5608C>T (p.Gln1870Ter)
c.5509C>T (p.Gln1837Ter)
c.5443C>T (p.Gln1815Ter)
c.5425C>T (p.Gln1809Ter)
c.5077C>T (p.Gln1693Ter)
c.4957C>T (p.Gln1653Ter)
n.5199C>T
c.5584C>T (p.Gln1862Ter)
c.5521C>T (p.Gln1841Ter)
c.5512C>T (p.Gln1838Ter)
c.5122C>T (p.Gln1708Ter)
c.4981C>T (p.Gln1661Ter)
c.5413C>T (p.Gln1805Ter)
 ClinVar dbSNP
8g.41668317G>CCA371051102ANK1c.5467C>G (p.Gln1823Glu)
c.5563C>G (p.Gln1855Glu)
c.5380C>G (p.Gln1794Glu)
c.5344C>G (p.Gln1782Glu)
c.1358C>G
c.2822C>G
n.2738C>G
c.4858C>G (p.Gln1620Glu)
c.5608C>G (p.Gln1870Glu)
c.5509C>G (p.Gln1837Glu)
c.5443C>G (p.Gln1815Glu)
c.5425C>G (p.Gln1809Glu)
c.5077C>G (p.Gln1693Glu)
c.4957C>G (p.Gln1653Glu)
n.5199C>G
c.5584C>G (p.Gln1862Glu)
c.5521C>G (p.Gln1841Glu)
c.5512C>G (p.Gln1838Glu)
c.5122C>G (p.Gln1708Glu)
c.4981C>G (p.Gln1661Glu)
c.5413C>G (p.Gln1805Glu)
8g.41668317G>TCA371051104ANK1c.5467C>A (p.Gln1823Lys)
c.5563C>A (p.Gln1855Lys)
c.5380C>A (p.Gln1794Lys)
c.5344C>A (p.Gln1782Lys)
c.1358C>A
c.2822C>A
n.2738C>A
c.4858C>A (p.Gln1620Lys)
c.5608C>A (p.Gln1870Lys)
c.5509C>A (p.Gln1837Lys)
c.5443C>A (p.Gln1815Lys)
c.5425C>A (p.Gln1809Lys)
c.5077C>A (p.Gln1693Lys)
c.4957C>A (p.Gln1653Lys)
n.5199C>A
c.5584C>A (p.Gln1862Lys)
c.5521C>A (p.Gln1841Lys)
c.5512C>A (p.Gln1838Lys)
c.5122C>A (p.Gln1708Lys)
c.4981C>A (p.Gln1661Lys)
c.5413C>A (p.Gln1805Lys)
8g.41668318G>ACA460781997ANK1c.5466C>T (p.Gly1822=)
c.5562C>T (p.Gly1854=)
c.5379C>T (p.Gly1793=)
c.5343C>T (p.Gly1781=)
c.1357C>T
c.2821C>T
n.2737C>T
c.4857C>T (p.Gly1619=)
c.5607C>T (p.Gly1869=)
c.5508C>T (p.Gly1836=)
c.5442C>T (p.Gly1814=)
c.5424C>T (p.Gly1808=)
c.5076C>T (p.Gly1692=)
c.4956C>T (p.Gly1652=)
n.5198C>T
c.5583C>T (p.Gly1861=)
c.5520C>T (p.Gly1840=)
c.5511C>T (p.Gly1837=)
c.5121C>T (p.Gly1707=)
c.4980C>T (p.Gly1660=)
c.5412C>T (p.Gly1804=)
8g.41668318G>CCA460781998ANK1c.5466C>G (p.Gly1822=)
c.5562C>G (p.Gly1854=)
c.5379C>G (p.Gly1793=)
c.5343C>G (p.Gly1781=)
c.1357C>G
c.2821C>G
n.2737C>G
c.4857C>G (p.Gly1619=)
c.5607C>G (p.Gly1869=)
c.5508C>G (p.Gly1836=)
c.5442C>G (p.Gly1814=)
c.5424C>G (p.Gly1808=)
c.5076C>G (p.Gly1692=)
c.4956C>G (p.Gly1652=)
n.5198C>G
c.5583C>G (p.Gly1861=)
c.5520C>G (p.Gly1840=)
c.5511C>G (p.Gly1837=)
c.5121C>G (p.Gly1707=)
c.4980C>G (p.Gly1660=)
c.5412C>G (p.Gly1804=)
8g.41668318G>TCA460781999ANK1c.5466C>A (p.Gly1822=)
c.5562C>A (p.Gly1854=)
c.5379C>A (p.Gly1793=)
c.5343C>A (p.Gly1781=)
c.1357C>A
c.2821C>A
n.2737C>A
c.4857C>A (p.Gly1619=)
c.5607C>A (p.Gly1869=)
c.5508C>A (p.Gly1836=)
c.5442C>A (p.Gly1814=)
c.5424C>A (p.Gly1808=)
c.5076C>A (p.Gly1692=)
c.4956C>A (p.Gly1652=)
n.5198C>A
c.5583C>A (p.Gly1861=)
c.5520C>A (p.Gly1840=)
c.5511C>A (p.Gly1837=)
c.5121C>A (p.Gly1707=)
c.4980C>A (p.Gly1660=)
c.5412C>A (p.Gly1804=)
 gnomAD v4
8g.41668319C>ACA371051107ANK1c.5465G>T (p.Gly1822Val)
c.5561G>T (p.Gly1854Val)
c.5378G>T (p.Gly1793Val)
c.5342G>T (p.Gly1781Val)
c.1356G>T
c.2820G>T
n.2736G>T
c.4856G>T (p.Gly1619Val)
c.5606G>T (p.Gly1869Val)
c.5507G>T (p.Gly1836Val)
c.5441G>T (p.Gly1814Val)
c.5423G>T (p.Gly1808Val)
c.5075G>T (p.Gly1692Val)
c.4955G>T (p.Gly1652Val)
n.5197G>T
c.5582G>T (p.Gly1861Val)
c.5519G>T (p.Gly1840Val)
c.5510G>T (p.Gly1837Val)
c.5120G>T (p.Gly1707Val)
c.4979G>T (p.Gly1660Val)
c.5411G>T (p.Gly1804Val)
 dbSNP
8g.41668319C=CA1779071027ANK1c.5465G= (p.Gly1822=)
c.5561G= (p.Gly1854=)
c.5378G= (p.Gly1793=)
c.5342G= (p.Gly1781=)
c.1356G=
c.2820G=
n.2736G=
c.4856G= (p.Gly1619=)
c.5606G= (p.Gly1869=)
c.5507G= (p.Gly1836=)
c.5441G= (p.Gly1814=)
c.5423G= (p.Gly1808=)
c.5075G= (p.Gly1692=)
c.4955G= (p.Gly1652=)
n.5197G=
c.5582G= (p.Gly1861=)
c.5519G= (p.Gly1840=)
c.5510G= (p.Gly1837=)
c.5120G= (p.Gly1707=)
c.4979G= (p.Gly1660=)
c.5411G= (p.Gly1804=)
8g.41668319C>GCA371051108ANK1c.5465G>C (p.Gly1822Ala)
c.5561G>C (p.Gly1854Ala)
c.5378G>C (p.Gly1793Ala)
c.5342G>C (p.Gly1781Ala)
c.1356G>C
c.2820G>C
n.2736G>C
c.4856G>C (p.Gly1619Ala)
c.5606G>C (p.Gly1869Ala)
c.5507G>C (p.Gly1836Ala)
c.5441G>C (p.Gly1814Ala)
c.5423G>C (p.Gly1808Ala)
c.5075G>C (p.Gly1692Ala)
c.4955G>C (p.Gly1652Ala)
n.5197G>C
c.5582G>C (p.Gly1861Ala)
c.5519G>C (p.Gly1840Ala)
c.5510G>C (p.Gly1837Ala)
c.5120G>C (p.Gly1707Ala)
c.4979G>C (p.Gly1660Ala)
c.5411G>C (p.Gly1804Ala)
 gnomAD v4
8g.41668319C>TCA4727312ANK1c.5465G>A (p.Gly1822Asp)
c.5561G>A (p.Gly1854Asp)
c.5378G>A (p.Gly1793Asp)
c.5342G>A (p.Gly1781Asp)
c.1356G>A
c.2820G>A
n.2736G>A
c.4856G>A (p.Gly1619Asp)
c.5606G>A (p.Gly1869Asp)
c.5507G>A (p.Gly1836Asp)
c.5441G>A (p.Gly1814Asp)
c.5423G>A (p.Gly1808Asp)
c.5075G>A (p.Gly1692Asp)
c.4955G>A (p.Gly1652Asp)
n.5197G>A
c.5582G>A (p.Gly1861Asp)
c.5519G>A (p.Gly1840Asp)
c.5510G>A (p.Gly1837Asp)
c.5120G>A (p.Gly1707Asp)
c.4979G>A (p.Gly1660Asp)
c.5411G>A (p.Gly1804Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.41668320C>ACA371051115ANK1c.5464G>T (p.Gly1822Cys)
c.5560G>T (p.Gly1854Cys)
c.5377G>T (p.Gly1793Cys)
c.5341G>T (p.Gly1781Cys)
c.1355G>T
c.2819G>T
n.2735G>T
c.4855G>T (p.Gly1619Cys)
c.5605G>T (p.Gly1869Cys)
c.5506G>T (p.Gly1836Cys)
c.5440G>T (p.Gly1814Cys)
c.5422G>T (p.Gly1808Cys)
c.5074G>T (p.Gly1692Cys)
c.4954G>T (p.Gly1652Cys)
n.5196G>T
c.5581G>T (p.Gly1861Cys)
c.5518G>T (p.Gly1840Cys)
c.5509G>T (p.Gly1837Cys)
c.5119G>T (p.Gly1707Cys)
c.4978G>T (p.Gly1660Cys)
c.5410G>T (p.Gly1804Cys)
 dbSNP gnomAD v2
8g.41668320C=CA1779071031ANK1c.5464G= (p.Gly1822=)
c.5560G= (p.Gly1854=)
c.5377G= (p.Gly1793=)
c.5341G= (p.Gly1781=)
c.1355G=
c.2819G=
n.2735G=
c.4855G= (p.Gly1619=)
c.5605G= (p.Gly1869=)
c.5506G= (p.Gly1836=)
c.5440G= (p.Gly1814=)
c.5422G= (p.Gly1808=)
c.5074G= (p.Gly1692=)
c.4954G= (p.Gly1652=)
n.5196G=
c.5581G= (p.Gly1861=)
c.5518G= (p.Gly1840=)
c.5509G= (p.Gly1837=)
c.5119G= (p.Gly1707=)
c.4978G= (p.Gly1660=)
c.5410G= (p.Gly1804=)
8g.41668320C>GCA371051112ANK1c.5464G>C (p.Gly1822Arg)
c.5560G>C (p.Gly1854Arg)
c.5377G>C (p.Gly1793Arg)
c.5341G>C (p.Gly1781Arg)
c.1355G>C
c.2819G>C
n.2735G>C
c.4855G>C (p.Gly1619Arg)
c.5605G>C (p.Gly1869Arg)
c.5506G>C (p.Gly1836Arg)
c.5440G>C (p.Gly1814Arg)
c.5422G>C (p.Gly1808Arg)
c.5074G>C (p.Gly1692Arg)
c.4954G>C (p.Gly1652Arg)
n.5196G>C
c.5581G>C (p.Gly1861Arg)
c.5518G>C (p.Gly1840Arg)
c.5509G>C (p.Gly1837Arg)
c.5119G>C (p.Gly1707Arg)
c.4978G>C (p.Gly1660Arg)
c.5410G>C (p.Gly1804Arg)
8g.41668320C>TCA4727313ANK1c.5464G>A (p.Gly1822Ser)
c.5560G>A (p.Gly1854Ser)
c.5377G>A (p.Gly1793Ser)
c.5341G>A (p.Gly1781Ser)
c.1355G>A
c.2819G>A
n.2735G>A
c.4855G>A (p.Gly1619Ser)
c.5605G>A (p.Gly1869Ser)
c.5506G>A (p.Gly1836Ser)
c.5440G>A (p.Gly1814Ser)
c.5422G>A (p.Gly1808Ser)
c.5074G>A (p.Gly1692Ser)
c.4954G>A (p.Gly1652Ser)
n.5196G>A
c.5581G>A (p.Gly1861Ser)
c.5518G>A (p.Gly1840Ser)
c.5509G>A (p.Gly1837Ser)
c.5119G>A (p.Gly1707Ser)
c.4978G>A (p.Gly1660Ser)
c.5410G>A (p.Gly1804Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.41668321T>ACA371051119ANK1c.5463A>T (p.Gln1821His)
c.5559A>T (p.Gln1853His)
c.5376A>T (p.Gln1792His)
c.5340A>T (p.Gln1780His)
c.1354A>T
c.2818A>T
n.2734A>T
c.4854A>T (p.Gln1618His)
c.5604A>T (p.Gln1868His)
c.5505A>T (p.Gln1835His)
c.5439A>T (p.Gln1813His)
c.5421A>T (p.Gln1807His)
c.5073A>T (p.Gln1691His)
c.4953A>T (p.Gln1651His)
n.5195A>T
c.5580A>T (p.Gln1860His)
c.5517A>T (p.Gln1839His)
c.5508A>T (p.Gln1836His)
c.5118A>T (p.Gln1706His)
c.4977A>T (p.Gln1659His)
c.5409A>T (p.Gln1803His)
8g.41668321T>CCA460782000ANK1c.5463A>G (p.Gln1821=)
c.5559A>G (p.Gln1853=)
c.5376A>G (p.Gln1792=)
c.5340A>G (p.Gln1780=)
c.1354A>G
c.2818A>G
n.2734A>G
c.4854A>G (p.Gln1618=)
c.5604A>G (p.Gln1868=)
c.5505A>G (p.Gln1835=)
c.5439A>G (p.Gln1813=)
c.5421A>G (p.Gln1807=)
c.5073A>G (p.Gln1691=)
c.4953A>G (p.Gln1651=)
n.5195A>G
c.5580A>G (p.Gln1860=)
c.5517A>G (p.Gln1839=)
c.5508A>G (p.Gln1836=)
c.5118A>G (p.Gln1706=)
c.4977A>G (p.Gln1659=)
c.5409A>G (p.Gln1803=)
8g.41668321T>GCA371051121ANK1c.5463A>C (p.Gln1821His)
c.5559A>C (p.Gln1853His)
c.5376A>C (p.Gln1792His)
c.5340A>C (p.Gln1780His)
c.1354A>C
c.2818A>C
n.2734A>C
c.4854A>C (p.Gln1618His)
c.5604A>C (p.Gln1868His)
c.5505A>C (p.Gln1835His)
c.5439A>C (p.Gln1813His)
c.5421A>C (p.Gln1807His)
c.5073A>C (p.Gln1691His)
c.4953A>C (p.Gln1651His)
n.5195A>C
c.5580A>C (p.Gln1860His)
c.5517A>C (p.Gln1839His)
c.5508A>C (p.Gln1836His)
c.5118A>C (p.Gln1706His)
c.4977A>C (p.Gln1659His)
c.5409A>C (p.Gln1803His)
8g.41668322T>ACA371051124ANK1c.5462A>T (p.Gln1821Leu)
c.5558A>T (p.Gln1853Leu)
c.5375A>T (p.Gln1792Leu)
c.5339A>T (p.Gln1780Leu)
c.1353A>T
c.2817A>T
n.2733A>T
c.4853A>T (p.Gln1618Leu)
c.5603A>T (p.Gln1868Leu)
c.5504A>T (p.Gln1835Leu)
c.5438A>T (p.Gln1813Leu)
c.5420A>T (p.Gln1807Leu)
c.5072A>T (p.Gln1691Leu)
c.4952A>T (p.Gln1651Leu)
n.5194A>T
c.5579A>T (p.Gln1860Leu)
c.5516A>T (p.Gln1839Leu)
c.5507A>T (p.Gln1836Leu)
c.5117A>T (p.Gln1706Leu)
c.4976A>T (p.Gln1659Leu)
c.5408A>T (p.Gln1803Leu)
8g.41668322T>CCA371051126ANK1c.5462A>G (p.Gln1821Arg)
c.5558A>G (p.Gln1853Arg)
c.5375A>G (p.Gln1792Arg)
c.5339A>G (p.Gln1780Arg)
c.1353A>G
c.2817A>G
n.2733A>G
c.4853A>G (p.Gln1618Arg)
c.5603A>G (p.Gln1868Arg)
c.5504A>G (p.Gln1835Arg)
c.5438A>G (p.Gln1813Arg)
c.5420A>G (p.Gln1807Arg)
c.5072A>G (p.Gln1691Arg)
c.4952A>G (p.Gln1651Arg)
n.5194A>G
c.5579A>G (p.Gln1860Arg)
c.5516A>G (p.Gln1839Arg)
c.5507A>G (p.Gln1836Arg)
c.5117A>G (p.Gln1706Arg)
c.4976A>G (p.Gln1659Arg)
c.5408A>G (p.Gln1803Arg)
8g.41668322T>GCA371051128ANK1c.5462A>C (p.Gln1821Pro)
c.5558A>C (p.Gln1853Pro)
c.5375A>C (p.Gln1792Pro)
c.5339A>C (p.Gln1780Pro)
c.1353A>C
c.2817A>C
n.2733A>C
c.4853A>C (p.Gln1618Pro)
c.5603A>C (p.Gln1868Pro)
c.5504A>C (p.Gln1835Pro)
c.5438A>C (p.Gln1813Pro)
c.5420A>C (p.Gln1807Pro)
c.5072A>C (p.Gln1691Pro)
c.4952A>C (p.Gln1651Pro)
n.5194A>C
c.5579A>C (p.Gln1860Pro)
c.5516A>C (p.Gln1839Pro)
c.5507A>C (p.Gln1836Pro)
c.5117A>C (p.Gln1706Pro)
c.4976A>C (p.Gln1659Pro)
c.5408A>C (p.Gln1803Pro)
8g.41668323G>ACA371051131ANK1c.5461C>T (p.Gln1821Ter)
c.5557C>T (p.Gln1853Ter)
c.5374C>T (p.Gln1792Ter)
c.5338C>T (p.Gln1780Ter)
c.1352C>T
c.2816C>T
n.2732C>T
c.4852C>T (p.Gln1618Ter)
c.5602C>T (p.Gln1868Ter)
c.5503C>T (p.Gln1835Ter)
c.5437C>T (p.Gln1813Ter)
c.5419C>T (p.Gln1807Ter)
c.5071C>T (p.Gln1691Ter)
c.4951C>T (p.Gln1651Ter)
n.5193C>T
c.5578C>T (p.Gln1860Ter)
c.5515C>T (p.Gln1839Ter)
c.5506C>T (p.Gln1836Ter)
c.5116C>T (p.Gln1706Ter)
c.4975C>T (p.Gln1659Ter)
c.5407C>T (p.Gln1803Ter)
8g.41668323G>CCA371051135ANK1c.5461C>G (p.Gln1821Glu)
c.5557C>G (p.Gln1853Glu)
c.5374C>G (p.Gln1792Glu)
c.5338C>G (p.Gln1780Glu)
c.1352C>G
c.2816C>G
n.2732C>G
c.4852C>G (p.Gln1618Glu)
c.5602C>G (p.Gln1868Glu)
c.5503C>G (p.Gln1835Glu)
c.5437C>G (p.Gln1813Glu)
c.5419C>G (p.Gln1807Glu)
c.5071C>G (p.Gln1691Glu)
c.4951C>G (p.Gln1651Glu)
n.5193C>G
c.5578C>G (p.Gln1860Glu)
c.5515C>G (p.Gln1839Glu)
c.5506C>G (p.Gln1836Glu)
c.5116C>G (p.Gln1706Glu)
c.4975C>G (p.Gln1659Glu)
c.5407C>G (p.Gln1803Glu)
8g.41668323G>TCA371051133ANK1c.5461C>A (p.Gln1821Lys)
c.5557C>A (p.Gln1853Lys)
c.5374C>A (p.Gln1792Lys)
c.5338C>A (p.Gln1780Lys)
c.1352C>A
c.2816C>A
n.2732C>A
c.4852C>A (p.Gln1618Lys)
c.5602C>A (p.Gln1868Lys)
c.5503C>A (p.Gln1835Lys)
c.5437C>A (p.Gln1813Lys)
c.5419C>A (p.Gln1807Lys)
c.5071C>A (p.Gln1691Lys)
c.4951C>A (p.Gln1651Lys)
n.5193C>A
c.5578C>A (p.Gln1860Lys)
c.5515C>A (p.Gln1839Lys)
c.5506C>A (p.Gln1836Lys)
c.5116C>A (p.Gln1706Lys)
c.4975C>A (p.Gln1659Lys)
c.5407C>A (p.Gln1803Lys)
8g.41668324C>ACA371051138ANK1c.5460G>T (p.Gln1820His)
c.5556G>T (p.Gln1852His)
c.5373G>T (p.Gln1791His)
c.5337G>T (p.Gln1779His)
c.1351G>T
c.2815G>T
n.2731G>T
c.4851G>T (p.Gln1617His)
c.5601G>T (p.Gln1867His)
c.5502G>T (p.Gln1834His)
c.5436G>T (p.Gln1812His)
c.5418G>T (p.Gln1806His)
c.5070G>T (p.Gln1690His)
c.4950G>T (p.Gln1650His)
n.5192G>T
c.5577G>T (p.Gln1859His)
c.5514G>T (p.Gln1838His)
c.5505G>T (p.Gln1835His)
c.5115G>T (p.Gln1705His)
c.4974G>T (p.Gln1658His)
c.5406G>T (p.Gln1802His)
8g.41668324C>GCA371051140ANK1c.5460G>C (p.Gln1820His)
c.5556G>C (p.Gln1852His)
c.5373G>C (p.Gln1791His)
c.5337G>C (p.Gln1779His)
c.1351G>C
c.2815G>C
n.2731G>C
c.4851G>C (p.Gln1617His)
c.5601G>C (p.Gln1867His)
c.5502G>C (p.Gln1834His)
c.5436G>C (p.Gln1812His)
c.5418G>C (p.Gln1806His)
c.5070G>C (p.Gln1690His)
c.4950G>C (p.Gln1650His)
n.5192G>C
c.5577G>C (p.Gln1859His)
c.5514G>C (p.Gln1838His)
c.5505G>C (p.Gln1835His)
c.5115G>C (p.Gln1705His)
c.4974G>C (p.Gln1658His)
c.5406G>C (p.Gln1802His)
8g.41668324C>TCA460782001ANK1c.5460G>A (p.Gln1820=)
c.5556G>A (p.Gln1852=)
c.5373G>A (p.Gln1791=)
c.5337G>A (p.Gln1779=)
c.1351G>A
c.2815G>A
n.2731G>A
c.4851G>A (p.Gln1617=)
c.5601G>A (p.Gln1867=)
c.5502G>A (p.Gln1834=)
c.5436G>A (p.Gln1812=)
c.5418G>A (p.Gln1806=)
c.5070G>A (p.Gln1690=)
c.4950G>A (p.Gln1650=)
n.5192G>A
c.5577G>A (p.Gln1859=)
c.5514G>A (p.Gln1838=)
c.5505G>A (p.Gln1835=)
c.5115G>A (p.Gln1705=)
c.4974G>A (p.Gln1658=)
c.5406G>A (p.Gln1802=)
8g.41668325T>ACA371051143ANK1c.5459A>T (p.Gln1820Leu)
c.5555A>T (p.Gln1852Leu)
c.5372A>T (p.Gln1791Leu)
c.5336A>T (p.Gln1779Leu)
c.1350A>T
c.2814A>T
n.2730A>T
c.4850A>T (p.Gln1617Leu)
c.5600A>T (p.Gln1867Leu)
c.5501A>T (p.Gln1834Leu)
c.5435A>T (p.Gln1812Leu)
c.5417A>T (p.Gln1806Leu)
c.5069A>T (p.Gln1690Leu)
c.4949A>T (p.Gln1650Leu)
n.5191A>T
c.5576A>T (p.Gln1859Leu)
c.5513A>T (p.Gln1838Leu)
c.5504A>T (p.Gln1835Leu)
c.5114A>T (p.Gln1705Leu)
c.4973A>T (p.Gln1658Leu)
c.5405A>T (p.Gln1802Leu)
8g.41668325T>CCA371051146ANK1c.5459A>G (p.Gln1820Arg)
c.5555A>G (p.Gln1852Arg)
c.5372A>G (p.Gln1791Arg)
c.5336A>G (p.Gln1779Arg)
c.1350A>G
c.2814A>G
n.2730A>G
c.4850A>G (p.Gln1617Arg)
c.5600A>G (p.Gln1867Arg)
c.5501A>G (p.Gln1834Arg)
c.5435A>G (p.Gln1812Arg)
c.5417A>G (p.Gln1806Arg)
c.5069A>G (p.Gln1690Arg)
c.4949A>G (p.Gln1650Arg)
n.5191A>G
c.5576A>G (p.Gln1859Arg)
c.5513A>G (p.Gln1838Arg)
c.5504A>G (p.Gln1835Arg)
c.5114A>G (p.Gln1705Arg)
c.4973A>G (p.Gln1658Arg)
c.5405A>G (p.Gln1802Arg)
8g.41668325T>GCA371051148ANK1c.5459A>C (p.Gln1820Pro)
c.5555A>C (p.Gln1852Pro)
c.5372A>C (p.Gln1791Pro)
c.5336A>C (p.Gln1779Pro)
c.1350A>C
c.2814A>C
n.2730A>C
c.4850A>C (p.Gln1617Pro)
c.5600A>C (p.Gln1867Pro)
c.5501A>C (p.Gln1834Pro)
c.5435A>C (p.Gln1812Pro)
c.5417A>C (p.Gln1806Pro)
c.5069A>C (p.Gln1690Pro)
c.4949A>C (p.Gln1650Pro)
n.5191A>C
c.5576A>C (p.Gln1859Pro)
c.5513A>C (p.Gln1838Pro)
c.5504A>C (p.Gln1835Pro)
c.5114A>C (p.Gln1705Pro)
c.4973A>C (p.Gln1658Pro)
c.5405A>C (p.Gln1802Pro)
8g.41668326G>ACA371051151ANK1c.5458C>T (p.Gln1820Ter)
c.5554C>T (p.Gln1852Ter)
c.5371C>T (p.Gln1791Ter)
c.5335C>T (p.Gln1779Ter)
c.1349C>T
c.2813C>T
n.2729C>T
c.4849C>T (p.Gln1617Ter)
c.5599C>T (p.Gln1867Ter)
c.5500C>T (p.Gln1834Ter)
c.5434C>T (p.Gln1812Ter)
c.5416C>T (p.Gln1806Ter)
c.5068C>T (p.Gln1690Ter)
c.4948C>T (p.Gln1650Ter)
n.5190C>T
c.5575C>T (p.Gln1859Ter)
c.5512C>T (p.Gln1838Ter)
c.5503C>T (p.Gln1835Ter)
c.5113C>T (p.Gln1705Ter)
c.4972C>T (p.Gln1658Ter)
c.5404C>T (p.Gln1802Ter)
8g.41668326G>CCA371051153ANK1c.5458C>G (p.Gln1820Glu)
c.5554C>G (p.Gln1852Glu)
c.5371C>G (p.Gln1791Glu)
c.5335C>G (p.Gln1779Glu)
c.1349C>G
c.2813C>G
n.2729C>G
c.4849C>G (p.Gln1617Glu)
c.5599C>G (p.Gln1867Glu)
c.5500C>G (p.Gln1834Glu)
c.5434C>G (p.Gln1812Glu)
c.5416C>G (p.Gln1806Glu)
c.5068C>G (p.Gln1690Glu)
c.4948C>G (p.Gln1650Glu)
n.5190C>G
c.5575C>G (p.Gln1859Glu)
c.5512C>G (p.Gln1838Glu)
c.5503C>G (p.Gln1835Glu)
c.5113C>G (p.Gln1705Glu)
c.4972C>G (p.Gln1658Glu)
c.5404C>G (p.Gln1802Glu)
8g.41668326G>TCA371051155ANK1c.5458C>A (p.Gln1820Lys)
c.5554C>A (p.Gln1852Lys)
c.5371C>A (p.Gln1791Lys)
c.5335C>A (p.Gln1779Lys)
c.1349C>A
c.2813C>A
n.2729C>A
c.4849C>A (p.Gln1617Lys)
c.5599C>A (p.Gln1867Lys)
c.5500C>A (p.Gln1834Lys)
c.5434C>A (p.Gln1812Lys)
c.5416C>A (p.Gln1806Lys)
c.5068C>A (p.Gln1690Lys)
c.4948C>A (p.Gln1650Lys)
n.5190C>A
c.5575C>A (p.Gln1859Lys)
c.5512C>A (p.Gln1838Lys)
c.5503C>A (p.Gln1835Lys)
c.5113C>A (p.Gln1705Lys)
c.4972C>A (p.Gln1658Lys)
c.5404C>A (p.Gln1802Lys)
 dbSNP
8g.41668327C>ACA371051157ANK1c.5457G>T (p.Arg1819Ser)
c.5553G>T (p.Arg1851Ser)
c.5370G>T (p.Arg1790Ser)
c.5334G>T (p.Arg1778Ser)
c.1348G>T
c.2812G>T
n.2728G>T
c.4848G>T (p.Arg1616Ser)
c.5598G>T (p.Arg1866Ser)
c.5499G>T (p.Arg1833Ser)
c.5433G>T (p.Arg1811Ser)
c.5415G>T (p.Arg1805Ser)
c.5067G>T (p.Arg1689Ser)
c.4947G>T (p.Arg1649Ser)
n.5189G>T
c.5574G>T (p.Arg1858Ser)
c.5511G>T (p.Arg1837Ser)
c.5502G>T (p.Arg1834Ser)
c.5112G>T (p.Arg1704Ser)
c.4971G>T (p.Arg1657Ser)
c.5403G>T (p.Arg1801Ser)
8g.41668327C>GCA371051159ANK1c.5457G>C (p.Arg1819Ser)
c.5553G>C (p.Arg1851Ser)
c.5370G>C (p.Arg1790Ser)
c.5334G>C (p.Arg1778Ser)
c.1348G>C
c.2812G>C
n.2728G>C
c.4848G>C (p.Arg1616Ser)
c.5598G>C (p.Arg1866Ser)
c.5499G>C (p.Arg1833Ser)
c.5433G>C (p.Arg1811Ser)
c.5415G>C (p.Arg1805Ser)
c.5067G>C (p.Arg1689Ser)
c.4947G>C (p.Arg1649Ser)
n.5189G>C
c.5574G>C (p.Arg1858Ser)
c.5511G>C (p.Arg1837Ser)
c.5502G>C (p.Arg1834Ser)
c.5112G>C (p.Arg1704Ser)
c.4971G>C (p.Arg1657Ser)
c.5403G>C (p.Arg1801Ser)
8g.41668327C>TCA460782002ANK1c.5457G>A (p.Arg1819=)
c.5553G>A (p.Arg1851=)
c.5370G>A (p.Arg1790=)
c.5334G>A (p.Arg1778=)
c.1348G>A
c.2812G>A
n.2728G>A
c.4848G>A (p.Arg1616=)
c.5598G>A (p.Arg1866=)
c.5499G>A (p.Arg1833=)
c.5433G>A (p.Arg1811=)
c.5415G>A (p.Arg1805=)
c.5067G>A (p.Arg1689=)
c.4947G>A (p.Arg1649=)
n.5189G>A
c.5574G>A (p.Arg1858=)
c.5511G>A (p.Arg1837=)
c.5502G>A (p.Arg1834=)
c.5112G>A (p.Arg1704=)
c.4971G>A (p.Arg1657=)
c.5403G>A (p.Arg1801=)
 gnomAD v4
8g.41668328C>ACA371051164ANK1c.5456G>T (p.Arg1819Met)
c.5552G>T (p.Arg1851Met)
c.5369G>T (p.Arg1790Met)
c.5333G>T (p.Arg1778Met)
c.1347G>T
c.2811G>T
n.2727G>T
c.4847G>T (p.Arg1616Met)
c.5597G>T (p.Arg1866Met)
c.5498G>T (p.Arg1833Met)
c.5432G>T (p.Arg1811Met)
c.5414G>T (p.Arg1805Met)
c.5066G>T (p.Arg1689Met)
c.4946G>T (p.Arg1649Met)
n.5188G>T
c.5573G>T (p.Arg1858Met)
c.5510G>T (p.Arg1837Met)
c.5501G>T (p.Arg1834Met)
c.5111G>T (p.Arg1704Met)
c.4970G>T (p.Arg1657Met)
c.5402G>T (p.Arg1801Met)
8g.41668328C=CA1779071033ANK1c.5456G= (p.Arg1819=)
c.5552G= (p.Arg1851=)
c.5369G= (p.Arg1790=)
c.5333G= (p.Arg1778=)
c.1347G=
c.2811G=
n.2727G=
c.4847G= (p.Arg1616=)
c.5597G= (p.Arg1866=)
c.5498G= (p.Arg1833=)
c.5432G= (p.Arg1811=)
c.5414G= (p.Arg1805=)
c.5066G= (p.Arg1689=)
c.4946G= (p.Arg1649=)
n.5188G=
c.5573G= (p.Arg1858=)
c.5510G= (p.Arg1837=)
c.5501G= (p.Arg1834=)
c.5111G= (p.Arg1704=)
c.4970G= (p.Arg1657=)
c.5402G= (p.Arg1801=)
8g.41668328C>GCA371051167ANK1c.5456G>C (p.Arg1819Thr)
c.5552G>C (p.Arg1851Thr)
c.5369G>C (p.Arg1790Thr)
c.5333G>C (p.Arg1778Thr)
c.1347G>C
c.2811G>C
n.2727G>C
c.4847G>C (p.Arg1616Thr)
c.5597G>C (p.Arg1866Thr)
c.5498G>C (p.Arg1833Thr)
c.5432G>C (p.Arg1811Thr)
c.5414G>C (p.Arg1805Thr)
c.5066G>C (p.Arg1689Thr)
c.4946G>C (p.Arg1649Thr)
n.5188G>C
c.5573G>C (p.Arg1858Thr)
c.5510G>C (p.Arg1837Thr)
c.5501G>C (p.Arg1834Thr)
c.5111G>C (p.Arg1704Thr)
c.4970G>C (p.Arg1657Thr)
c.5402G>C (p.Arg1801Thr)
8g.41668328C>TCA4727314ANK1c.5456G>A (p.Arg1819Lys)
c.5552G>A (p.Arg1851Lys)
c.5369G>A (p.Arg1790Lys)
c.5333G>A (p.Arg1778Lys)
c.1347G>A
c.2811G>A
n.2727G>A
c.4847G>A (p.Arg1616Lys)
c.5597G>A (p.Arg1866Lys)
c.5498G>A (p.Arg1833Lys)
c.5432G>A (p.Arg1811Lys)
c.5414G>A (p.Arg1805Lys)
c.5066G>A (p.Arg1689Lys)
c.4946G>A (p.Arg1649Lys)
n.5188G>A
c.5573G>A (p.Arg1858Lys)
c.5510G>A (p.Arg1837Lys)
c.5501G>A (p.Arg1834Lys)
c.5111G>A (p.Arg1704Lys)
c.4970G>A (p.Arg1657Lys)
c.5402G>A (p.Arg1801Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41668329T>ACA371051170ANK1c.5455A>T (p.Arg1819Trp)
c.5551A>T (p.Arg1851Trp)
c.5368A>T (p.Arg1790Trp)
c.5332A>T (p.Arg1778Trp)
c.1346A>T
c.2810A>T
n.2726A>T
c.4846A>T (p.Arg1616Trp)
c.5596A>T (p.Arg1866Trp)
c.5497A>T (p.Arg1833Trp)
c.5431A>T (p.Arg1811Trp)
c.5413A>T (p.Arg1805Trp)
c.5065A>T (p.Arg1689Trp)
c.4945A>T (p.Arg1649Trp)
n.5187A>T
c.5572A>T (p.Arg1858Trp)
c.5509A>T (p.Arg1837Trp)
c.5500A>T (p.Arg1834Trp)
c.5110A>T (p.Arg1704Trp)
c.4969A>T (p.Arg1657Trp)
c.5401A>T (p.Arg1801Trp)
8g.41668329T>CCA371051172ANK1c.5455A>G (p.Arg1819Gly)
c.5551A>G (p.Arg1851Gly)
c.5368A>G (p.Arg1790Gly)
c.5332A>G (p.Arg1778Gly)
c.1346A>G
c.2810A>G
n.2726A>G
c.4846A>G (p.Arg1616Gly)
c.5596A>G (p.Arg1866Gly)
c.5497A>G (p.Arg1833Gly)
c.5431A>G (p.Arg1811Gly)
c.5413A>G (p.Arg1805Gly)
c.5065A>G (p.Arg1689Gly)
c.4945A>G (p.Arg1649Gly)
n.5187A>G
c.5572A>G (p.Arg1858Gly)
c.5509A>G (p.Arg1837Gly)
c.5500A>G (p.Arg1834Gly)
c.5110A>G (p.Arg1704Gly)
c.4969A>G (p.Arg1657Gly)
c.5401A>G (p.Arg1801Gly)
8g.41668329T>GCA460782003ANK1c.5455A>C (p.Arg1819=)
c.5551A>C (p.Arg1851=)
c.5368A>C (p.Arg1790=)
c.5332A>C (p.Arg1778=)
c.1346A>C
c.2810A>C
n.2726A>C
c.4846A>C (p.Arg1616=)
c.5596A>C (p.Arg1866=)
c.5497A>C (p.Arg1833=)
c.5431A>C (p.Arg1811=)
c.5413A>C (p.Arg1805=)
c.5065A>C (p.Arg1689=)
c.4945A>C (p.Arg1649=)
n.5187A>C
c.5572A>C (p.Arg1858=)
c.5509A>C (p.Arg1837=)
c.5500A>C (p.Arg1834=)
c.5110A>C (p.Arg1704=)
c.4969A>C (p.Arg1657=)
c.5401A>C (p.Arg1801=)
8g.41668330C>ACA460782006ANK1c.5454G>T (p.Arg1818=)
c.5550G>T (p.Arg1850=)
c.5367G>T (p.Arg1789=)
c.5331G>T (p.Arg1777=)
c.1345G>T
c.2809G>T
n.2725G>T
c.4845G>T (p.Arg1615=)
c.5595G>T (p.Arg1865=)
c.5496G>T (p.Arg1832=)
c.5430G>T (p.Arg1810=)
c.5412G>T (p.Arg1804=)
c.5064G>T (p.Arg1688=)
c.4944G>T (p.Arg1648=)
n.5186G>T
c.5571G>T (p.Arg1857=)
c.5508G>T (p.Arg1836=)
c.5499G>T (p.Arg1833=)
c.5109G>T (p.Arg1703=)
c.4968G>T (p.Arg1656=)
c.5400G>T (p.Arg1800=)
8g.41668330C>GCA460782005ANK1c.5454G>C (p.Arg1818=)
c.5550G>C (p.Arg1850=)
c.5367G>C (p.Arg1789=)
c.5331G>C (p.Arg1777=)
c.1345G>C
c.2809G>C
n.2725G>C
c.4845G>C (p.Arg1615=)
c.5595G>C (p.Arg1865=)
c.5496G>C (p.Arg1832=)
c.5430G>C (p.Arg1810=)
c.5412G>C (p.Arg1804=)
c.5064G>C (p.Arg1688=)
c.4944G>C (p.Arg1648=)
n.5186G>C
c.5571G>C (p.Arg1857=)
c.5508G>C (p.Arg1836=)
c.5499G>C (p.Arg1833=)
c.5109G>C (p.Arg1703=)
c.4968G>C (p.Arg1656=)
c.5400G>C (p.Arg1800=)
8g.41668330C>TCA460782004ANK1c.5454G>A (p.Arg1818=)
c.5550G>A (p.Arg1850=)
c.5367G>A (p.Arg1789=)
c.5331G>A (p.Arg1777=)
c.1345G>A
c.2809G>A
n.2725G>A
c.4845G>A (p.Arg1615=)
c.5595G>A (p.Arg1865=)
c.5496G>A (p.Arg1832=)
c.5430G>A (p.Arg1810=)
c.5412G>A (p.Arg1804=)
c.5064G>A (p.Arg1688=)
c.4944G>A (p.Arg1648=)
n.5186G>A
c.5571G>A (p.Arg1857=)
c.5508G>A (p.Arg1836=)
c.5499G>A (p.Arg1833=)
c.5109G>A (p.Arg1703=)
c.4968G>A (p.Arg1656=)
c.5400G>A (p.Arg1800=)
8g.41668331C>ACA371051175ANK1c.5453G>T (p.Arg1818Leu)
c.5549G>T (p.Arg1850Leu)
c.5366G>T (p.Arg1789Leu)
c.5330G>T (p.Arg1777Leu)
c.1344G>T
c.2808G>T
n.2724G>T
c.4844G>T (p.Arg1615Leu)
c.5594G>T (p.Arg1865Leu)
c.5495G>T (p.Arg1832Leu)
c.5429G>T (p.Arg1810Leu)
c.5411G>T (p.Arg1804Leu)
c.5063G>T (p.Arg1688Leu)
c.4943G>T (p.Arg1648Leu)
n.5185G>T
c.5570G>T (p.Arg1857Leu)
c.5507G>T (p.Arg1836Leu)
c.5498G>T (p.Arg1833Leu)
c.5108G>T (p.Arg1703Leu)
c.4967G>T (p.Arg1656Leu)
c.5399G>T (p.Arg1800Leu)
8g.41668331C=CA1779071038ANK1c.5453G= (p.Arg1818=)
c.5549G= (p.Arg1850=)
c.5366G= (p.Arg1789=)
c.5330G= (p.Arg1777=)
c.1344G=
c.2808G=
n.2724G=
c.4844G= (p.Arg1615=)
c.5594G= (p.Arg1865=)
c.5495G= (p.Arg1832=)
c.5429G= (p.Arg1810=)
c.5411G= (p.Arg1804=)
c.5063G= (p.Arg1688=)
c.4943G= (p.Arg1648=)
n.5185G=
c.5570G= (p.Arg1857=)
c.5507G= (p.Arg1836=)
c.5498G= (p.Arg1833=)
c.5108G= (p.Arg1703=)
c.4967G= (p.Arg1656=)
c.5399G= (p.Arg1800=)
8g.41668331C>GCA4727316ANK1c.5453G>C (p.Arg1818Pro)
c.5549G>C (p.Arg1850Pro)
c.5366G>C (p.Arg1789Pro)
c.5330G>C (p.Arg1777Pro)
c.1344G>C
c.2808G>C
n.2724G>C
c.4844G>C (p.Arg1615Pro)
c.5594G>C (p.Arg1865Pro)
c.5495G>C (p.Arg1832Pro)
c.5429G>C (p.Arg1810Pro)
c.5411G>C (p.Arg1804Pro)
c.5063G>C (p.Arg1688Pro)
c.4943G>C (p.Arg1648Pro)
n.5185G>C
c.5570G>C (p.Arg1857Pro)
c.5507G>C (p.Arg1836Pro)
c.5498G>C (p.Arg1833Pro)
c.5108G>C (p.Arg1703Pro)
c.4967G>C (p.Arg1656Pro)
c.5399G>C (p.Arg1800Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41668331C>TCA4727315ANK1c.5453G>A (p.Arg1818Gln)
c.5549G>A (p.Arg1850Gln)
c.5366G>A (p.Arg1789Gln)
c.5330G>A (p.Arg1777Gln)
c.1344G>A
c.2808G>A
n.2724G>A
c.4844G>A (p.Arg1615Gln)
c.5594G>A (p.Arg1865Gln)
c.5495G>A (p.Arg1832Gln)
c.5429G>A (p.Arg1810Gln)
c.5411G>A (p.Arg1804Gln)
c.5063G>A (p.Arg1688Gln)
c.4943G>A (p.Arg1648Gln)
n.5185G>A
c.5570G>A (p.Arg1857Gln)
c.5507G>A (p.Arg1836Gln)
c.5498G>A (p.Arg1833Gln)
c.5108G>A (p.Arg1703Gln)
c.4967G>A (p.Arg1656Gln)
c.5399G>A (p.Arg1800Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.41668332G>ACA175914226ANK1c.5452C>T (p.Arg1818Trp)
c.5548C>T (p.Arg1850Trp)
c.5365C>T (p.Arg1789Trp)
c.5329C>T (p.Arg1777Trp)
c.1343C>T
c.2807C>T
n.2723C>T
c.4843C>T (p.Arg1615Trp)
c.5593C>T (p.Arg1865Trp)
c.5494C>T (p.Arg1832Trp)
c.5428C>T (p.Arg1810Trp)
c.5410C>T (p.Arg1804Trp)
c.5062C>T (p.Arg1688Trp)
c.4942C>T (p.Arg1648Trp)
n.5184C>T
c.5569C>T (p.Arg1857Trp)
c.5506C>T (p.Arg1836Trp)
c.5497C>T (p.Arg1833Trp)
c.5107C>T (p.Arg1703Trp)
c.4966C>T (p.Arg1656Trp)
c.5398C>T (p.Arg1800Trp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.41668332G>CCA371051193ANK1c.5452C>G (p.Arg1818Gly)
c.5548C>G (p.Arg1850Gly)
c.5365C>G (p.Arg1789Gly)
c.5329C>G (p.Arg1777Gly)
c.1343C>G
c.2807C>G
n.2723C>G
c.4843C>G (p.Arg1615Gly)
c.5593C>G (p.Arg1865Gly)
c.5494C>G (p.Arg1832Gly)
c.5428C>G (p.Arg1810Gly)
c.5410C>G (p.Arg1804Gly)
c.5062C>G (p.Arg1688Gly)
c.4942C>G (p.Arg1648Gly)
n.5184C>G
c.5569C>G (p.Arg1857Gly)
c.5506C>G (p.Arg1836Gly)
c.5497C>G (p.Arg1833Gly)
c.5107C>G (p.Arg1703Gly)
c.4966C>G (p.Arg1656Gly)
c.5398C>G (p.Arg1800Gly)
 gnomAD v4
8g.41668332G=CA1779071043ANK1c.5452C= (p.Arg1818=)
c.5548C= (p.Arg1850=)
c.5365C= (p.Arg1789=)
c.5329C= (p.Arg1777=)
c.1343C=
c.2807C=
n.2723C=
c.4843C= (p.Arg1615=)
c.5593C= (p.Arg1865=)
c.5494C= (p.Arg1832=)
c.5428C= (p.Arg1810=)
c.5410C= (p.Arg1804=)
c.5062C= (p.Arg1688=)
c.4942C= (p.Arg1648=)
n.5184C=
c.5569C= (p.Arg1857=)
c.5506C= (p.Arg1836=)
c.5497C= (p.Arg1833=)
c.5107C= (p.Arg1703=)
c.4966C= (p.Arg1656=)
c.5398C= (p.Arg1800=)
8g.41668332G>TCA4727317ANK1c.5452C>A (p.Arg1818=)
c.5548C>A (p.Arg1850=)
c.5365C>A (p.Arg1789=)
c.5329C>A (p.Arg1777=)
c.1343C>A
c.2807C>A
n.2723C>A
c.4843C>A (p.Arg1615=)
c.5593C>A (p.Arg1865=)
c.5494C>A (p.Arg1832=)
c.5428C>A (p.Arg1810=)
c.5410C>A (p.Arg1804=)
c.5062C>A (p.Arg1688=)
c.4942C>A (p.Arg1648=)
n.5184C>A
c.5569C>A (p.Arg1857=)
c.5506C>A (p.Arg1836=)
c.5497C>A (p.Arg1833=)
c.5107C>A (p.Arg1703=)
c.4966C>A (p.Arg1656=)
c.5398C>A (p.Arg1800=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.41668333G>ACA460782007ANK1c.5451C>T (p.Asp1817=)
c.5547C>T (p.Asp1849=)
c.5364C>T (p.Asp1788=)
c.5328C>T (p.Asp1776=)
c.1342C>T
c.2806C>T
n.2722C>T
c.4842C>T (p.Asp1614=)
c.5592C>T (p.Asp1864=)
c.5493C>T (p.Asp1831=)
c.5427C>T (p.Asp1809=)
c.5409C>T (p.Asp1803=)
c.5061C>T (p.Asp1687=)
c.4941C>T (p.Asp1647=)
n.5183C>T
c.5568C>T (p.Asp1856=)
c.5505C>T (p.Asp1835=)
c.5496C>T (p.Asp1832=)
c.5106C>T (p.Asp1702=)
c.4965C>T (p.Asp1655=)
c.5397C>T (p.Asp1799=)
8g.41668333G>CCA371051194ANK1c.5451C>G (p.Asp1817Glu)
c.5547C>G (p.Asp1849Glu)
c.5364C>G (p.Asp1788Glu)
c.5328C>G (p.Asp1776Glu)
c.1342C>G
c.2806C>G
n.2722C>G
c.4842C>G (p.Asp1614Glu)
c.5592C>G (p.Asp1864Glu)
c.5493C>G (p.Asp1831Glu)
c.5427C>G (p.Asp1809Glu)
c.5409C>G (p.Asp1803Glu)
c.5061C>G (p.Asp1687Glu)
c.4941C>G (p.Asp1647Glu)
n.5183C>G
c.5568C>G (p.Asp1856Glu)
c.5505C>G (p.Asp1835Glu)
c.5496C>G (p.Asp1832Glu)
c.5106C>G (p.Asp1702Glu)
c.4965C>G (p.Asp1655Glu)
c.5397C>G (p.Asp1799Glu)
8g.41668333G>TCA371051195ANK1c.5451C>A (p.Asp1817Glu)
c.5547C>A (p.Asp1849Glu)
c.5364C>A (p.Asp1788Glu)
c.5328C>A (p.Asp1776Glu)
c.1342C>A
c.2806C>A
n.2722C>A
c.4842C>A (p.Asp1614Glu)
c.5592C>A (p.Asp1864Glu)
c.5493C>A (p.Asp1831Glu)
c.5427C>A (p.Asp1809Glu)
c.5409C>A (p.Asp1803Glu)
c.5061C>A (p.Asp1687Glu)
c.4941C>A (p.Asp1647Glu)
n.5183C>A
c.5568C>A (p.Asp1856Glu)
c.5505C>A (p.Asp1835Glu)
c.5496C>A (p.Asp1832Glu)
c.5106C>A (p.Asp1702Glu)
c.4965C>A (p.Asp1655Glu)
c.5397C>A (p.Asp1799Glu)
8g.41668334T>ACA371051198ANK1c.5450A>T (p.Asp1817Val)
c.5546A>T (p.Asp1849Val)
c.5363A>T (p.Asp1788Val)
c.5327A>T (p.Asp1776Val)
c.1341A>T
c.2805A>T
n.2721A>T
c.4841A>T (p.Asp1614Val)
c.5591A>T (p.Asp1864Val)
c.5492A>T (p.Asp1831Val)
c.5426A>T (p.Asp1809Val)
c.5408A>T (p.Asp1803Val)
c.5060A>T (p.Asp1687Val)
c.4940A>T (p.Asp1647Val)
n.5182A>T
c.5567A>T (p.Asp1856Val)
c.5504A>T (p.Asp1835Val)
c.5495A>T (p.Asp1832Val)
c.5105A>T (p.Asp1702Val)
c.4964A>T (p.Asp1655Val)
c.5396A>T (p.Asp1799Val)
8g.41668334T>CCA371051200ANK1c.5450A>G (p.Asp1817Gly)
c.5546A>G (p.Asp1849Gly)
c.5363A>G (p.Asp1788Gly)
c.5327A>G (p.Asp1776Gly)
c.1341A>G
c.2805A>G
n.2721A>G
c.4841A>G (p.Asp1614Gly)
c.5591A>G (p.Asp1864Gly)
c.5492A>G (p.Asp1831Gly)
c.5426A>G (p.Asp1809Gly)
c.5408A>G (p.Asp1803Gly)
c.5060A>G (p.Asp1687Gly)
c.4940A>G (p.Asp1647Gly)
n.5182A>G
c.5567A>G (p.Asp1856Gly)
c.5504A>G (p.Asp1835Gly)
c.5495A>G (p.Asp1832Gly)
c.5105A>G (p.Asp1702Gly)
c.4964A>G (p.Asp1655Gly)
c.5396A>G (p.Asp1799Gly)
8g.41668334T>GCA371051203ANK1c.5450A>C (p.Asp1817Ala)
c.5546A>C (p.Asp1849Ala)
c.5363A>C (p.Asp1788Ala)
c.5327A>C (p.Asp1776Ala)
c.1341A>C
c.2805A>C
n.2721A>C
c.4841A>C (p.Asp1614Ala)
c.5591A>C (p.Asp1864Ala)
c.5492A>C (p.Asp1831Ala)
c.5426A>C (p.Asp1809Ala)
c.5408A>C (p.Asp1803Ala)
c.5060A>C (p.Asp1687Ala)
c.4940A>C (p.Asp1647Ala)
n.5182A>C
c.5567A>C (p.Asp1856Ala)
c.5504A>C (p.Asp1835Ala)
c.5495A>C (p.Asp1832Ala)
c.5105A>C (p.Asp1702Ala)
c.4964A>C (p.Asp1655Ala)
c.5396A>C (p.Asp1799Ala)
8g.41668335C>ACA371051206ANK1c.5449G>T (p.Asp1817Tyr)
c.5545G>T (p.Asp1849Tyr)
c.5362G>T (p.Asp1788Tyr)
c.5326G>T (p.Asp1776Tyr)
c.1340G>T
c.2804G>T
n.2720G>T
c.4840G>T (p.Asp1614Tyr)
c.5590G>T (p.Asp1864Tyr)
c.5491G>T (p.Asp1831Tyr)
c.5425G>T (p.Asp1809Tyr)
c.5407G>T (p.Asp1803Tyr)
c.5059G>T (p.Asp1687Tyr)
c.4939G>T (p.Asp1647Tyr)
n.5181G>T
c.5566G>T (p.Asp1856Tyr)
c.5503G>T (p.Asp1835Tyr)
c.5494G>T (p.Asp1832Tyr)
c.5104G>T (p.Asp1702Tyr)
c.4963G>T (p.Asp1655Tyr)
c.5395G>T (p.Asp1799Tyr)
8g.41668335C>GCA371051208ANK1c.5449G>C (p.Asp1817His)
c.5545G>C (p.Asp1849His)
c.5362G>C (p.Asp1788His)
c.5326G>C (p.Asp1776His)
c.1340G>C
c.2804G>C
n.2720G>C
c.4840G>C (p.Asp1614His)
c.5590G>C (p.Asp1864His)
c.5491G>C (p.Asp1831His)
c.5425G>C (p.Asp1809His)
c.5407G>C (p.Asp1803His)
c.5059G>C (p.Asp1687His)
c.4939G>C (p.Asp1647His)
n.5181G>C
c.5566G>C (p.Asp1856His)
c.5503G>C (p.Asp1835His)
c.5494G>C (p.Asp1832His)
c.5104G>C (p.Asp1702His)
c.4963G>C (p.Asp1655His)
c.5395G>C (p.Asp1799His)
8g.41668335C>TCA371051210ANK1c.5449G>A (p.Asp1817Asn)
c.5545G>A (p.Asp1849Asn)
c.5362G>A (p.Asp1788Asn)
c.5326G>A (p.Asp1776Asn)
c.1340G>A
c.2804G>A
n.2720G>A
c.4840G>A (p.Asp1614Asn)
c.5590G>A (p.Asp1864Asn)
c.5491G>A (p.Asp1831Asn)
c.5425G>A (p.Asp1809Asn)
c.5407G>A (p.Asp1803Asn)
c.5059G>A (p.Asp1687Asn)
c.4939G>A (p.Asp1647Asn)
n.5181G>A
c.5566G>A (p.Asp1856Asn)
c.5503G>A (p.Asp1835Asn)
c.5494G>A (p.Asp1832Asn)
c.5104G>A (p.Asp1702Asn)
c.4963G>A (p.Asp1655Asn)
c.5395G>A (p.Asp1799Asn)
8g.41668336C>ACA371051213ANK1c.5448G>T (p.Arg1816Ser)
c.5544G>T (p.Arg1848Ser)
c.5361G>T (p.Arg1787Ser)
c.5325G>T (p.Arg1775Ser)
c.1339G>T
c.2803G>T
n.2719G>T
c.4839G>T (p.Arg1613Ser)
c.5589G>T (p.Arg1863Ser)
c.5490G>T (p.Arg1830Ser)
c.5424G>T (p.Arg1808Ser)
c.5406G>T (p.Arg1802Ser)
c.5058G>T (p.Arg1686Ser)
c.4938G>T (p.Arg1646Ser)
n.5180G>T
c.5565G>T (p.Arg1855Ser)
c.5502G>T (p.Arg1834Ser)
c.5493G>T (p.Arg1831Ser)
c.5103G>T (p.Arg1701Ser)
c.4962G>T (p.Arg1654Ser)
c.5394G>T (p.Arg1798Ser)
 COSMIC COSMIC
8g.41668336C>GCA371051215ANK1c.5448G>C (p.Arg1816Ser)
c.5544G>C (p.Arg1848Ser)
c.5361G>C (p.Arg1787Ser)
c.5325G>C (p.Arg1775Ser)
c.1339G>C
c.2803G>C
n.2719G>C
c.4839G>C (p.Arg1613Ser)
c.5589G>C (p.Arg1863Ser)
c.5490G>C (p.Arg1830Ser)
c.5424G>C (p.Arg1808Ser)
c.5406G>C (p.Arg1802Ser)
c.5058G>C (p.Arg1686Ser)
c.4938G>C (p.Arg1646Ser)
n.5180G>C
c.5565G>C (p.Arg1855Ser)
c.5502G>C (p.Arg1834Ser)
c.5493G>C (p.Arg1831Ser)
c.5103G>C (p.Arg1701Ser)
c.4962G>C (p.Arg1654Ser)
c.5394G>C (p.Arg1798Ser)
8g.41668336C>TCA460782008ANK1c.5448G>A (p.Arg1816=)
c.5544G>A (p.Arg1848=)
c.5361G>A (p.Arg1787=)
c.5325G>A (p.Arg1775=)
c.1339G>A
c.2803G>A
n.2719G>A
c.4839G>A (p.Arg1613=)
c.5589G>A (p.Arg1863=)
c.5490G>A (p.Arg1830=)
c.5424G>A (p.Arg1808=)
c.5406G>A (p.Arg1802=)
c.5058G>A (p.Arg1686=)
c.4938G>A (p.Arg1646=)
n.5180G>A
c.5565G>A (p.Arg1855=)
c.5502G>A (p.Arg1834=)
c.5493G>A (p.Arg1831=)
c.5103G>A (p.Arg1701=)
c.4962G>A (p.Arg1654=)
c.5394G>A (p.Arg1798=)
 gnomAD v4 COSMIC COSMIC
8g.41668337C>ACA371051218ANK1c.5447G>T (p.Arg1816Met)
c.5543G>T (p.Arg1848Met)
c.5360G>T (p.Arg1787Met)
c.5324G>T (p.Arg1775Met)
c.1338G>T
c.2802G>T
n.2718G>T
c.4838G>T (p.Arg1613Met)
c.5588G>T (p.Arg1863Met)
c.5489G>T (p.Arg1830Met)
c.5423G>T (p.Arg1808Met)
c.5405G>T (p.Arg1802Met)
c.5057G>T (p.Arg1686Met)
c.4937G>T (p.Arg1646Met)
n.5179G>T
c.5564G>T (p.Arg1855Met)
c.5501G>T (p.Arg1834Met)
c.5492G>T (p.Arg1831Met)
c.5102G>T (p.Arg1701Met)
c.4961G>T (p.Arg1654Met)
c.5393G>T (p.Arg1798Met)
8g.41668337C=CA1779071047ANK1c.5447G= (p.Arg1816=)
c.5543G= (p.Arg1848=)
c.5360G= (p.Arg1787=)
c.5324G= (p.Arg1775=)
c.1338G=
c.2802G=
n.2718G=
c.4838G= (p.Arg1613=)
c.5588G= (p.Arg1863=)
c.5489G= (p.Arg1830=)
c.5423G= (p.Arg1808=)
c.5405G= (p.Arg1802=)
c.5057G= (p.Arg1686=)
c.4937G= (p.Arg1646=)
n.5179G=
c.5564G= (p.Arg1855=)
c.5501G= (p.Arg1834=)
c.5492G= (p.Arg1831=)
c.5102G= (p.Arg1701=)
c.4961G= (p.Arg1654=)
c.5393G= (p.Arg1798=)
8g.41668337C>GCA371051220ANK1c.5447G>C (p.Arg1816Thr)
c.5543G>C (p.Arg1848Thr)
c.5360G>C (p.Arg1787Thr)
c.5324G>C (p.Arg1775Thr)
c.1338G>C
c.2802G>C
n.2718G>C
c.4838G>C (p.Arg1613Thr)
c.5588G>C (p.Arg1863Thr)
c.5489G>C (p.Arg1830Thr)
c.5423G>C (p.Arg1808Thr)
c.5405G>C (p.Arg1802Thr)
c.5057G>C (p.Arg1686Thr)
c.4937G>C (p.Arg1646Thr)
n.5179G>C
c.5564G>C (p.Arg1855Thr)
c.5501G>C (p.Arg1834Thr)
c.5492G>C (p.Arg1831Thr)
c.5102G>C (p.Arg1701Thr)
c.4961G>C (p.Arg1654Thr)
c.5393G>C (p.Arg1798Thr)
8g.41668337C>TCA371051222ANK1c.5447G>A (p.Arg1816Lys)
c.5543G>A (p.Arg1848Lys)
c.5360G>A (p.Arg1787Lys)
c.5324G>A (p.Arg1775Lys)
c.1338G>A
c.2802G>A
n.2718G>A
c.4838G>A (p.Arg1613Lys)
c.5588G>A (p.Arg1863Lys)
c.5489G>A (p.Arg1830Lys)
c.5423G>A (p.Arg1808Lys)
c.5405G>A (p.Arg1802Lys)
c.5057G>A (p.Arg1686Lys)
c.4937G>A (p.Arg1646Lys)
n.5179G>A
c.5564G>A (p.Arg1855Lys)
c.5501G>A (p.Arg1834Lys)
c.5492G>A (p.Arg1831Lys)
c.5102G>A (p.Arg1701Lys)
c.4961G>A (p.Arg1654Lys)
c.5393G>A (p.Arg1798Lys)
 dbSNP COSMIC
8g.41668337_41668338delCA2580078274ANK1c.5446_5447del (p.Arg1816GlyfsTer26)
c.5542_5543del (p.Arg1848GlyfsTer26)
c.5359_5360del (p.Arg1787GlyfsTer?)
c.5323_5324del (p.Arg1775GlyfsTer26)
c.1337_1338del
c.2801_2802del
n.2717_2718del
c.4837_4838del (p.Arg1613GlyfsTer26)
c.5587_5588del (p.Arg1863GlyfsTer26)
c.5488_5489del (p.Arg1830GlyfsTer26)
c.5422_5423del (p.Arg1808GlyfsTer26)
c.5404_5405del (p.Arg1802GlyfsTer26)
c.5056_5057del (p.Arg1686GlyfsTer26)
c.4936_4937del (p.Arg1646GlyfsTer26)
n.5178_5179del
c.5563_5564del (p.Arg1855GlyfsTer26)
c.5500_5501del (p.Arg1834GlyfsTer26)
c.5491_5492del (p.Arg1831GlyfsTer26)
c.5359_5360del (p.Arg1787GlyfsTer26)
c.5101_5102del (p.Arg1701GlyfsTer26)
c.4960_4961del (p.Arg1654GlyfsTer26)
c.5392_5393del (p.Arg1798GlyfsTer26)
 ClinVar
8g.41668338T>ACA371051226ANK1c.5446A>T (p.Arg1816Trp)
c.5542A>T (p.Arg1848Trp)
c.5359A>T (p.Arg1787Trp)
c.5323A>T (p.Arg1775Trp)
c.1337A>T
c.2801A>T
n.2717A>T
c.4837A>T (p.Arg1613Trp)
c.5587A>T (p.Arg1863Trp)
c.5488A>T (p.Arg1830Trp)
c.5422A>T (p.Arg1808Trp)
c.5404A>T (p.Arg1802Trp)
c.5056A>T (p.Arg1686Trp)
c.4936A>T (p.Arg1646Trp)
n.5178A>T
c.5563A>T (p.Arg1855Trp)
c.5500A>T (p.Arg1834Trp)
c.5491A>T (p.Arg1831Trp)
c.5101A>T (p.Arg1701Trp)
c.4960A>T (p.Arg1654Trp)
c.5392A>T (p.Arg1798Trp)
8g.41668338T>CCA371051228ANK1c.5446A>G (p.Arg1816Gly)
c.5542A>G (p.Arg1848Gly)
c.5359A>G (p.Arg1787Gly)
c.5323A>G (p.Arg1775Gly)
c.1337A>G
c.2801A>G
n.2717A>G
c.4837A>G (p.Arg1613Gly)
c.5587A>G (p.Arg1863Gly)
c.5488A>G (p.Arg1830Gly)
c.5422A>G (p.Arg1808Gly)
c.5404A>G (p.Arg1802Gly)
c.5056A>G (p.Arg1686Gly)
c.4936A>G (p.Arg1646Gly)
n.5178A>G
c.5563A>G (p.Arg1855Gly)
c.5500A>G (p.Arg1834Gly)
c.5491A>G (p.Arg1831Gly)
c.5101A>G (p.Arg1701Gly)
c.4960A>G (p.Arg1654Gly)
c.5392A>G (p.Arg1798Gly)
8g.41668338T>GCA460782009ANK1c.5446A>C (p.Arg1816=)
c.5542A>C (p.Arg1848=)
c.5359A>C (p.Arg1787=)
c.5323A>C (p.Arg1775=)
c.1337A>C
c.2801A>C
n.2717A>C
c.4837A>C (p.Arg1613=)
c.5587A>C (p.Arg1863=)
c.5488A>C (p.Arg1830=)
c.5422A>C (p.Arg1808=)
c.5404A>C (p.Arg1802=)
c.5056A>C (p.Arg1686=)
c.4936A>C (p.Arg1646=)
n.5178A>C
c.5563A>C (p.Arg1855=)
c.5500A>C (p.Arg1834=)
c.5491A>C (p.Arg1831=)
c.5101A>C (p.Arg1701=)
c.4960A>C (p.Arg1654=)
c.5392A>C (p.Arg1798=)
8g.41668339G>ACA460782010ANK1c.5445C>T (p.Asp1815=)
c.5541C>T (p.Asp1847=)
c.5358C>T (p.Asp1786=)
c.5322C>T (p.Asp1774=)
c.1336C>T
c.2800C>T
n.2716C>T
c.4836C>T (p.Asp1612=)
c.5586C>T (p.Asp1862=)
c.5487C>T (p.Asp1829=)
c.5421C>T (p.Asp1807=)
c.5403C>T (p.Asp1801=)
c.5055C>T (p.Asp1685=)
c.4935C>T (p.Asp1645=)
n.5177C>T
c.5562C>T (p.Asp1854=)
c.5499C>T (p.Asp1833=)
c.5490C>T (p.Asp1830=)
c.5100C>T (p.Asp1700=)
c.4959C>T (p.Asp1653=)
c.5391C>T (p.Asp1797=)
8g.41668339G>CCA371051233ANK1c.5445C>G (p.Asp1815Glu)
c.5541C>G (p.Asp1847Glu)
c.5358C>G (p.Asp1786Glu)
c.5322C>G (p.Asp1774Glu)
c.1336C>G
c.2800C>G
n.2716C>G
c.4836C>G (p.Asp1612Glu)
c.5586C>G (p.Asp1862Glu)
c.5487C>G (p.Asp1829Glu)
c.5421C>G (p.Asp1807Glu)
c.5403C>G (p.Asp1801Glu)
c.5055C>G (p.Asp1685Glu)
c.4935C>G (p.Asp1645Glu)
n.5177C>G
c.5562C>G (p.Asp1854Glu)
c.5499C>G (p.Asp1833Glu)
c.5490C>G (p.Asp1830Glu)
c.5100C>G (p.Asp1700Glu)
c.4959C>G (p.Asp1653Glu)
c.5391C>G (p.Asp1797Glu)
 dbSNP
8g.41668339G=CA1779071050ANK1c.5445C= (p.Asp1815=)
c.5541C= (p.Asp1847=)
c.5358C= (p.Asp1786=)
c.5322C= (p.Asp1774=)
c.1336C=
c.2800C=
n.2716C=
c.4836C= (p.Asp1612=)
c.5586C= (p.Asp1862=)
c.5487C= (p.Asp1829=)
c.5421C= (p.Asp1807=)
c.5403C= (p.Asp1801=)
c.5055C= (p.Asp1685=)
c.4935C= (p.Asp1645=)
n.5177C=
c.5562C= (p.Asp1854=)
c.5499C= (p.Asp1833=)
c.5490C= (p.Asp1830=)
c.5100C= (p.Asp1700=)
c.4959C= (p.Asp1653=)
c.5391C= (p.Asp1797=)
8g.41668339G>TCA371051231ANK1c.5445C>A (p.Asp1815Glu)
c.5541C>A (p.Asp1847Glu)
c.5358C>A (p.Asp1786Glu)
c.5322C>A (p.Asp1774Glu)
c.1336C>A
c.2800C>A
n.2716C>A
c.4836C>A (p.Asp1612Glu)
c.5586C>A (p.Asp1862Glu)
c.5487C>A (p.Asp1829Glu)
c.5421C>A (p.Asp1807Glu)
c.5403C>A (p.Asp1801Glu)
c.5055C>A (p.Asp1685Glu)
c.4935C>A (p.Asp1645Glu)
n.5177C>A
c.5562C>A (p.Asp1854Glu)
c.5499C>A (p.Asp1833Glu)
c.5490C>A (p.Asp1830Glu)
c.5100C>A (p.Asp1700Glu)
c.4959C>A (p.Asp1653Glu)
c.5391C>A (p.Asp1797Glu)
 COSMIC
8g.41668340T>ACA371051236ANK1c.5444A>T (p.Asp1815Val)
c.5540A>T (p.Asp1847Val)
c.5357A>T (p.Asp1786Val)
c.5321A>T (p.Asp1774Val)
c.1335A>T
c.2799A>T
n.2715A>T
c.4835A>T (p.Asp1612Val)
c.5585A>T (p.Asp1862Val)
c.5486A>T (p.Asp1829Val)
c.5420A>T (p.Asp1807Val)
c.5402A>T (p.Asp1801Val)
c.5054A>T (p.Asp1685Val)
c.4934A>T (p.Asp1645Val)
n.5176A>T
c.5561A>T (p.Asp1854Val)
c.5498A>T (p.Asp1833Val)
c.5489A>T (p.Asp1830Val)
c.5099A>T (p.Asp1700Val)
c.4958A>T (p.Asp1653Val)
c.5390A>T (p.Asp1797Val)
8g.41668340T>CCA371051238ANK1c.5444A>G (p.Asp1815Gly)
c.5540A>G (p.Asp1847Gly)
c.5357A>G (p.Asp1786Gly)
c.5321A>G (p.Asp1774Gly)
c.1335A>G
c.2799A>G
n.2715A>G
c.4835A>G (p.Asp1612Gly)
c.5585A>G (p.Asp1862Gly)
c.5486A>G (p.Asp1829Gly)
c.5420A>G (p.Asp1807Gly)
c.5402A>G (p.Asp1801Gly)
c.5054A>G (p.Asp1685Gly)
c.4934A>G (p.Asp1645Gly)
n.5176A>G
c.5561A>G (p.Asp1854Gly)
c.5498A>G (p.Asp1833Gly)
c.5489A>G (p.Asp1830Gly)
c.5099A>G (p.Asp1700Gly)
c.4958A>G (p.Asp1653Gly)
c.5390A>G (p.Asp1797Gly)
8g.41668340T>GCA371051239ANK1c.5444A>C (p.Asp1815Ala)
c.5540A>C (p.Asp1847Ala)
c.5357A>C (p.Asp1786Ala)
c.5321A>C (p.Asp1774Ala)
c.1335A>C
c.2799A>C
n.2715A>C
c.4835A>C (p.Asp1612Ala)
c.5585A>C (p.Asp1862Ala)
c.5486A>C (p.Asp1829Ala)
c.5420A>C (p.Asp1807Ala)
c.5402A>C (p.Asp1801Ala)
c.5054A>C (p.Asp1685Ala)
c.4934A>C (p.Asp1645Ala)
n.5176A>C
c.5561A>C (p.Asp1854Ala)
c.5498A>C (p.Asp1833Ala)
c.5489A>C (p.Asp1830Ala)
c.5099A>C (p.Asp1700Ala)
c.4958A>C (p.Asp1653Ala)
c.5390A>C (p.Asp1797Ala)
8g.41668341C>ACA371051241ANK1c.5443G>T (p.Asp1815Tyr)
c.5539G>T (p.Asp1847Tyr)
c.5356G>T (p.Asp1786Tyr)
c.5320G>T (p.Asp1774Tyr)
c.1334G>T
c.892G>T
c.2798G>T
n.2714G>T
c.4834G>T (p.Asp1612Tyr)
c.5584G>T (p.Asp1862Tyr)
c.5485G>T (p.Asp1829Tyr)
c.5419G>T (p.Asp1807Tyr)
c.5401G>T (p.Asp1801Tyr)
c.5053G>T (p.Asp1685Tyr)
c.4933G>T (p.Asp1645Tyr)
n.5175G>T
c.5560G>T (p.Asp1854Tyr)
c.5497G>T (p.Asp1833Tyr)
c.5488G>T (p.Asp1830Tyr)
c.5098G>T (p.Asp1700Tyr)
c.4957G>T (p.Asp1653Tyr)
c.5389G>T (p.Asp1797Tyr)
 dbSNP gnomAD v2 gnomAD v4
8g.41668341C=CA1779071052ANK1c.5443G= (p.Asp1815=)
c.5539G= (p.Asp1847=)
c.5356G= (p.Asp1786=)
c.5320G= (p.Asp1774=)
c.1334G=
c.892G=
c.2798G=
n.2714G=
c.4834G= (p.Asp1612=)
c.5584G= (p.Asp1862=)
c.5485G= (p.Asp1829=)
c.5419G= (p.Asp1807=)
c.5401G= (p.Asp1801=)
c.5053G= (p.Asp1685=)
c.4933G= (p.Asp1645=)
n.5175G=
c.5560G= (p.Asp1854=)
c.5497G= (p.Asp1833=)
c.5488G= (p.Asp1830=)
c.5098G= (p.Asp1700=)
c.4957G= (p.Asp1653=)
c.5389G= (p.Asp1797=)
8g.41668341C>GCA371051243ANK1c.5443G>C (p.Asp1815His)
c.5539G>C (p.Asp1847His)
c.5356G>C (p.Asp1786His)
c.5320G>C (p.Asp1774His)
c.1334G>C
c.892G>C
c.2798G>C
n.2714G>C
c.4834G>C (p.Asp1612His)
c.5584G>C (p.Asp1862His)
c.5485G>C (p.Asp1829His)
c.5419G>C (p.Asp1807His)
c.5401G>C (p.Asp1801His)
c.5053G>C (p.Asp1685His)
c.4933G>C (p.Asp1645His)
n.5175G>C
c.5560G>C (p.Asp1854His)
c.5497G>C (p.Asp1833His)
c.5488G>C (p.Asp1830His)
c.5098G>C (p.Asp1700His)
c.4957G>C (p.Asp1653His)
c.5389G>C (p.Asp1797His)
8g.41668341C>TCA4727318ANK1c.5443G>A (p.Asp1815Asn)
c.5539G>A (p.Asp1847Asn)
c.5356G>A (p.Asp1786Asn)
c.5320G>A (p.Asp1774Asn)
c.1334G>A
c.892G>A
c.2798G>A
n.2714G>A
c.4834G>A (p.Asp1612Asn)
c.5584G>A (p.Asp1862Asn)
c.5485G>A (p.Asp1829Asn)
c.5419G>A (p.Asp1807Asn)
c.5401G>A (p.Asp1801Asn)
c.5053G>A (p.Asp1685Asn)
c.4933G>A (p.Asp1645Asn)
n.5175G>A
c.5560G>A (p.Asp1854Asn)
c.5497G>A (p.Asp1833Asn)
c.5488G>A (p.Asp1830Asn)
c.5098G>A (p.Asp1700Asn)
c.4957G>A (p.Asp1653Asn)
c.5389G>A (p.Asp1797Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.41668341_41668347delinsCGGCCTGCA1779071053ANK1c.5437_5443delinsCAGGCCG (p.Gln1813=)
c.5533_5539delinsCAGGCCG (p.Gln1845=)
c.5350_5356delinsCAGGCCG (p.Gln1784=)
c.5314_5320delinsCAGGCCG (p.Gln1772=)
c.1328_1334delinsCAGGCCG
c.886_892delinsCAGGCCG
c.2792_2798delinsCAGGCCG
n.2708_2714delinsCAGGCCG
c.4828_4834delinsCAGGCCG (p.Gln1610=)
c.5578_5584delinsCAGGCCG (p.Gln1860=)
c.5479_5485delinsCAGGCCG (p.Gln1827=)
c.5413_5419delinsCAGGCCG (p.Gln1805=)
c.5395_5401delinsCAGGCCG (p.Gln1799=)
c.5047_5053delinsCAGGCCG (p.Gln1683=)
c.4927_4933delinsCAGGCCG (p.Gln1643=)
n.5169_5175delinsCAGGCCG
c.5554_5560delinsCAGGCCG (p.Gln1852=)
c.5491_5497delinsCAGGCCG (p.Gln1831=)
c.5482_5488delinsCAGGCCG (p.Gln1828=)
c.5092_5098delinsCAGGCCG (p.Gln1698=)
c.4951_4957delinsCAGGCCG (p.Gln1651=)
c.5383_5389delinsCAGGCCG (p.Gln1795=)
8g.41668342G>ACA4727319ANK1c.5442C>T (p.Ala1814=)
c.5538C>T (p.Ala1846=)
c.5355C>T (p.Ala1785=)
c.5319C>T (p.Ala1773=)
c.1333C>T
c.891C>T
c.2797C>T
n.2713C>T
c.4833C>T (p.Ala1611=)
c.5583C>T (p.Ala1861=)
c.5484C>T (p.Ala1828=)
c.5418C>T (p.Ala1806=)
c.5400C>T (p.Ala1800=)
c.5052C>T (p.Ala1684=)
c.4932C>T (p.Ala1644=)
n.5174C>T
c.5559C>T (p.Ala1853=)
c.5496C>T (p.Ala1832=)
c.5487C>T (p.Ala1829=)
c.5097C>T (p.Ala1699=)
c.4956C>T (p.Ala1652=)
c.5388C>T (p.Ala1796=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41668342G>CCA460782011ANK1c.5442C>G (p.Ala1814=)
c.5538C>G (p.Ala1846=)
c.5355C>G (p.Ala1785=)
c.5319C>G (p.Ala1773=)
c.1333C>G
c.891C>G
c.2797C>G
n.2713C>G
c.4833C>G (p.Ala1611=)
c.5583C>G (p.Ala1861=)
c.5484C>G (p.Ala1828=)
c.5418C>G (p.Ala1806=)
c.5400C>G (p.Ala1800=)
c.5052C>G (p.Ala1684=)
c.4932C>G (p.Ala1644=)
n.5174C>G
c.5559C>G (p.Ala1853=)
c.5496C>G (p.Ala1832=)
c.5487C>G (p.Ala1829=)
c.5097C>G (p.Ala1699=)
c.4956C>G (p.Ala1652=)
c.5388C>G (p.Ala1796=)
8g.41668342G=CA1779071058ANK1c.5442C= (p.Ala1814=)
c.5538C= (p.Ala1846=)
c.5355C= (p.Ala1785=)
c.5319C= (p.Ala1773=)
c.1333C=
c.891C=
c.2797C=
n.2713C=
c.4833C= (p.Ala1611=)
c.5583C= (p.Ala1861=)
c.5484C= (p.Ala1828=)
c.5418C= (p.Ala1806=)
c.5400C= (p.Ala1800=)
c.5052C= (p.Ala1684=)
c.4932C= (p.Ala1644=)
n.5174C=
c.5559C= (p.Ala1853=)
c.5496C= (p.Ala1832=)
c.5487C= (p.Ala1829=)
c.5097C= (p.Ala1699=)
c.4956C= (p.Ala1652=)
c.5388C= (p.Ala1796=)
8g.41668342G>TCA460782012ANK1c.5442C>A (p.Ala1814=)
c.5538C>A (p.Ala1846=)
c.5355C>A (p.Ala1785=)
c.5319C>A (p.Ala1773=)
c.1333C>A
c.891C>A
c.2797C>A
n.2713C>A
c.4833C>A (p.Ala1611=)
c.5583C>A (p.Ala1861=)
c.5484C>A (p.Ala1828=)
c.5418C>A (p.Ala1806=)
c.5400C>A (p.Ala1800=)
c.5052C>A (p.Ala1684=)
c.4932C>A (p.Ala1644=)
n.5174C>A
c.5559C>A (p.Ala1853=)
c.5496C>A (p.Ala1832=)
c.5487C>A (p.Ala1829=)
c.5097C>A (p.Ala1699=)
c.4956C>A (p.Ala1652=)
c.5388C>A (p.Ala1796=)
 dbSNP gnomAD v2 gnomAD v4
8g.41668344_41668349delCA581928047ANK1c.5437_5442del (p.Gln1813_Ala1814del)
c.5533_5538del (p.Gln1845_Ala1846del)
c.5350_5355del (p.Gln1784_Ala1785del)
c.5314_5319del (p.Gln1772_Ala1773del)
c.1328_1333del
c.886_891del
c.2792_2797del
n.2708_2713del
c.4828_4833del (p.Gln1610_Ala1611del)
c.5578_5583del (p.Gln1860_Ala1861del)
c.5479_5484del (p.Gln1827_Ala1828del)
c.5413_5418del (p.Gln1805_Ala1806del)
c.5395_5400del (p.Gln1799_Ala1800del)
c.5047_5052del (p.Gln1683_Ala1684del)
c.4927_4932del (p.Gln1643_Ala1644del)
n.5169_5174del
c.5554_5559del (p.Gln1852_Ala1853del)
c.5491_5496del (p.Gln1831_Ala1832del)
c.5482_5487del (p.Gln1828_Ala1829del)
c.5092_5097del (p.Gln1698_Ala1699del)
c.4951_4956del (p.Gln1651_Ala1652del)
c.5383_5388del (p.Gln1795_Ala1796del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.41668343G>ACA371051249ANK1c.5441C>T (p.Ala1814Val)
c.5537C>T (p.Ala1846Val)
c.5354C>T (p.Ala1785Val)
c.5318C>T (p.Ala1773Val)
c.1332C>T
c.890C>T
c.2796C>T
n.2712C>T
c.4832C>T (p.Ala1611Val)
c.5582C>T (p.Ala1861Val)
c.5483C>T (p.Ala1828Val)
c.5417C>T (p.Ala1806Val)
c.5399C>T (p.Ala1800Val)
c.5051C>T (p.Ala1684Val)
c.4931C>T (p.Ala1644Val)
n.5173C>T
c.5558C>T (p.Ala1853Val)
c.5495C>T (p.Ala1832Val)
c.5486C>T (p.Ala1829Val)
c.5096C>T (p.Ala1699Val)
c.4955C>T (p.Ala1652Val)
c.5387C>T (p.Ala1796Val)
8g.41668343G>CCA371051250ANK1c.5441C>G (p.Ala1814Gly)
c.5537C>G (p.Ala1846Gly)
c.5354C>G (p.Ala1785Gly)
c.5318C>G (p.Ala1773Gly)
c.1332C>G
c.890C>G
c.2796C>G
n.2712C>G
c.4832C>G (p.Ala1611Gly)
c.5582C>G (p.Ala1861Gly)
c.5483C>G (p.Ala1828Gly)
c.5417C>G (p.Ala1806Gly)
c.5399C>G (p.Ala1800Gly)
c.5051C>G (p.Ala1684Gly)
c.4931C>G (p.Ala1644Gly)
n.5173C>G
c.5558C>G (p.Ala1853Gly)
c.5495C>G (p.Ala1832Gly)
c.5486C>G (p.Ala1829Gly)
c.5096C>G (p.Ala1699Gly)
c.4955C>G (p.Ala1652Gly)
c.5387C>G (p.Ala1796Gly)
 gnomAD v4
8g.41668343G=CA1779071061ANK1c.5441C= (p.Ala1814=)
c.5537C= (p.Ala1846=)
c.5354C= (p.Ala1785=)
c.5318C= (p.Ala1773=)
c.1332C=
c.890C=
c.2796C=
n.2712C=
c.4832C= (p.Ala1611=)
c.5582C= (p.Ala1861=)
c.5483C= (p.Ala1828=)
c.5417C= (p.Ala1806=)
c.5399C= (p.Ala1800=)
c.5051C= (p.Ala1684=)
c.4931C= (p.Ala1644=)
n.5173C=
c.5558C= (p.Ala1853=)
c.5495C= (p.Ala1832=)
c.5486C= (p.Ala1829=)
c.5096C= (p.Ala1699=)
c.4955C= (p.Ala1652=)
c.5387C= (p.Ala1796=)
8g.41668343G>TCA4727320ANK1c.5441C>A (p.Ala1814Asp)
c.5537C>A (p.Ala1846Asp)
c.5354C>A (p.Ala1785Asp)
c.5318C>A (p.Ala1773Asp)
c.1332C>A
c.890C>A
c.2796C>A
n.2712C>A
c.4832C>A (p.Ala1611Asp)
c.5582C>A (p.Ala1861Asp)
c.5483C>A (p.Ala1828Asp)
c.5417C>A (p.Ala1806Asp)
c.5399C>A (p.Ala1800Asp)
c.5051C>A (p.Ala1684Asp)
c.4931C>A (p.Ala1644Asp)
n.5173C>A
c.5558C>A (p.Ala1853Asp)
c.5495C>A (p.Ala1832Asp)
c.5486C>A (p.Ala1829Asp)
c.5096C>A (p.Ala1699Asp)
c.4955C>A (p.Ala1652Asp)
c.5387C>A (p.Ala1796Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41668344C>ACA371051253ANK1c.5440G>T (p.Ala1814Ser)
c.5536G>T (p.Ala1846Ser)
c.5353G>T (p.Ala1785Ser)
c.5317G>T (p.Ala1773Ser)
c.1331G>T
c.889G>T
c.2795G>T
n.2711G>T
c.4831G>T (p.Ala1611Ser)
c.5581G>T (p.Ala1861Ser)
c.5482G>T (p.Ala1828Ser)
c.5416G>T (p.Ala1806Ser)
c.5398G>T (p.Ala1800Ser)
c.5050G>T (p.Ala1684Ser)
c.4930G>T (p.Ala1644Ser)
n.5172G>T
c.5557G>T (p.Ala1853Ser)
c.5494G>T (p.Ala1832Ser)
c.5485G>T (p.Ala1829Ser)
c.5095G>T (p.Ala1699Ser)
c.4954G>T (p.Ala1652Ser)
c.5386G>T (p.Ala1796Ser)
8g.41668344C=CA1779071066ANK1c.5440G= (p.Ala1814=)
c.5536G= (p.Ala1846=)
c.5353G= (p.Ala1785=)
c.5317G= (p.Ala1773=)
c.1331G=
c.889G=
c.2795G=
n.2711G=
c.4831G= (p.Ala1611=)
c.5581G= (p.Ala1861=)
c.5482G= (p.Ala1828=)
c.5416G= (p.Ala1806=)
c.5398G= (p.Ala1800=)
c.5050G= (p.Ala1684=)
c.4930G= (p.Ala1644=)
n.5172G=
c.5557G= (p.Ala1853=)
c.5494G= (p.Ala1832=)
c.5485G= (p.Ala1829=)
c.5095G= (p.Ala1699=)
c.4954G= (p.Ala1652=)
c.5386G= (p.Ala1796=)
8g.41668344C>GCA4727321ANK1c.5440G>C (p.Ala1814Pro)
c.5536G>C (p.Ala1846Pro)
c.5353G>C (p.Ala1785Pro)
c.5317G>C (p.Ala1773Pro)
c.1331G>C
c.889G>C
c.2795G>C
n.2711G>C
c.4831G>C (p.Ala1611Pro)
c.5581G>C (p.Ala1861Pro)
c.5482G>C (p.Ala1828Pro)
c.5416G>C (p.Ala1806Pro)
c.5398G>C (p.Ala1800Pro)
c.5050G>C (p.Ala1684Pro)
c.4930G>C (p.Ala1644Pro)
n.5172G>C
c.5557G>C (p.Ala1853Pro)
c.5494G>C (p.Ala1832Pro)
c.5485G>C (p.Ala1829Pro)
c.5095G>C (p.Ala1699Pro)
c.4954G>C (p.Ala1652Pro)
c.5386G>C (p.Ala1796Pro)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
8g.41668344C>TCA371051256ANK1c.5440G>A (p.Ala1814Thr)
c.5536G>A (p.Ala1846Thr)
c.5353G>A (p.Ala1785Thr)
c.5317G>A (p.Ala1773Thr)
c.1331G>A
c.889G>A
c.2795G>A
n.2711G>A
c.4831G>A (p.Ala1611Thr)
c.5581G>A (p.Ala1861Thr)
c.5482G>A (p.Ala1828Thr)
c.5416G>A (p.Ala1806Thr)
c.5398G>A (p.Ala1800Thr)
c.5050G>A (p.Ala1684Thr)
c.4930G>A (p.Ala1644Thr)
n.5172G>A
c.5557G>A (p.Ala1853Thr)
c.5494G>A (p.Ala1832Thr)
c.5485G>A (p.Ala1829Thr)
c.5095G>A (p.Ala1699Thr)
c.4954G>A (p.Ala1652Thr)
c.5386G>A (p.Ala1796Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.41668345C>ACA371051258ANK1c.5439G>T (p.Gln1813His)
c.5535G>T (p.Gln1845His)
c.5352G>T (p.Gln1784His)
c.5316G>T (p.Gln1772His)
c.1330G>T
c.888G>T
c.2794G>T
n.2710G>T
c.4830G>T (p.Gln1610His)
c.5580G>T (p.Gln1860His)
c.5481G>T (p.Gln1827His)
c.5415G>T (p.Gln1805His)
c.5397G>T (p.Gln1799His)
c.5049G>T (p.Gln1683His)
c.4929G>T (p.Gln1643His)
n.5171G>T
c.5556G>T (p.Gln1852His)
c.5493G>T (p.Gln1831His)
c.5484G>T (p.Gln1828His)
c.5094G>T (p.Gln1698His)
c.4953G>T (p.Gln1651His)
c.5385G>T (p.Gln1795His)
8g.41668345C=CA1779071068ANK1c.5439G= (p.Gln1813=)
c.5535G= (p.Gln1845=)
c.5352G= (p.Gln1784=)
c.5316G= (p.Gln1772=)
c.1330G=
c.888G=
c.2794G=
n.2710G=
c.4830G= (p.Gln1610=)
c.5580G= (p.Gln1860=)
c.5481G= (p.Gln1827=)
c.5415G= (p.Gln1805=)
c.5397G= (p.Gln1799=)
c.5049G= (p.Gln1683=)
c.4929G= (p.Gln1643=)
n.5171G=
c.5556G= (p.Gln1852=)
c.5493G= (p.Gln1831=)
c.5484G= (p.Gln1828=)
c.5094G= (p.Gln1698=)
c.4953G= (p.Gln1651=)
c.5385G= (p.Gln1795=)
8g.41668345C>GCA371051260ANK1c.5439G>C (p.Gln1813His)
c.5535G>C (p.Gln1845His)
c.5352G>C (p.Gln1784His)
c.5316G>C (p.Gln1772His)
c.1330G>C
c.888G>C
c.2794G>C
n.2710G>C
c.4830G>C (p.Gln1610His)
c.5580G>C (p.Gln1860His)
c.5481G>C (p.Gln1827His)
c.5415G>C (p.Gln1805His)
c.5397G>C (p.Gln1799His)
c.5049G>C (p.Gln1683His)
c.4929G>C (p.Gln1643His)
n.5171G>C
c.5556G>C (p.Gln1852His)
c.5493G>C (p.Gln1831His)
c.5484G>C (p.Gln1828His)
c.5094G>C (p.Gln1698His)
c.4953G>C (p.Gln1651His)
c.5385G>C (p.Gln1795His)
8g.41668345C>TCA460782013ANK1c.5439G>A (p.Gln1813=)
c.5535G>A (p.Gln1845=)
c.5352G>A (p.Gln1784=)
c.5316G>A (p.Gln1772=)
c.1330G>A
c.888G>A
c.2794G>A
n.2710G>A
c.4830G>A (p.Gln1610=)
c.5580G>A (p.Gln1860=)
c.5481G>A (p.Gln1827=)
c.5415G>A (p.Gln1805=)
c.5397G>A (p.Gln1799=)
c.5049G>A (p.Gln1683=)
c.4929G>A (p.Gln1643=)
n.5171G>A
c.5556G>A (p.Gln1852=)
c.5493G>A (p.Gln1831=)
c.5484G>A (p.Gln1828=)
c.5094G>A (p.Gln1698=)
c.4953G>A (p.Gln1651=)
c.5385G>A (p.Gln1795=)
 dbSNP
8g.41668346T>ACA371051263ANK1c.5438A>T (p.Gln1813Leu)
c.5534A>T (p.Gln1845Leu)
c.5351A>T (p.Gln1784Leu)
c.5315A>T (p.Gln1772Leu)
c.1329A>T
c.887A>T
c.2793A>T
n.2709A>T
c.4829A>T (p.Gln1610Leu)
c.5579A>T (p.Gln1860Leu)
c.5480A>T (p.Gln1827Leu)
c.5414A>T (p.Gln1805Leu)
c.5396A>T (p.Gln1799Leu)
c.5048A>T (p.Gln1683Leu)
c.4928A>T (p.Gln1643Leu)
n.5170A>T
c.5555A>T (p.Gln1852Leu)
c.5492A>T (p.Gln1831Leu)
c.5483A>T (p.Gln1828Leu)
c.5093A>T (p.Gln1698Leu)
c.4952A>T (p.Gln1651Leu)
c.5384A>T (p.Gln1795Leu)
8g.41668346T>CCA371051264ANK1c.5438A>G (p.Gln1813Arg)
c.5534A>G (p.Gln1845Arg)
c.5351A>G (p.Gln1784Arg)
c.5315A>G (p.Gln1772Arg)
c.1329A>G
c.887A>G
c.2793A>G
n.2709A>G
c.4829A>G (p.Gln1610Arg)
c.5579A>G (p.Gln1860Arg)
c.5480A>G (p.Gln1827Arg)
c.5414A>G (p.Gln1805Arg)
c.5396A>G (p.Gln1799Arg)
c.5048A>G (p.Gln1683Arg)
c.4928A>G (p.Gln1643Arg)
n.5170A>G
c.5555A>G (p.Gln1852Arg)
c.5492A>G (p.Gln1831Arg)
c.5483A>G (p.Gln1828Arg)
c.5093A>G (p.Gln1698Arg)
c.4952A>G (p.Gln1651Arg)
c.5384A>G (p.Gln1795Arg)
8g.41668346T>GCA371051266ANK1c.5438A>C (p.Gln1813Pro)
c.5534A>C (p.Gln1845Pro)
c.5351A>C (p.Gln1784Pro)
c.5315A>C (p.Gln1772Pro)
c.1329A>C
c.887A>C
c.2793A>C
n.2709A>C
c.4829A>C (p.Gln1610Pro)
c.5579A>C (p.Gln1860Pro)
c.5480A>C (p.Gln1827Pro)
c.5414A>C (p.Gln1805Pro)
c.5396A>C (p.Gln1799Pro)
c.5048A>C (p.Gln1683Pro)
c.4928A>C (p.Gln1643Pro)
n.5170A>C
c.5555A>C (p.Gln1852Pro)
c.5492A>C (p.Gln1831Pro)
c.5483A>C (p.Gln1828Pro)
c.5093A>C (p.Gln1698Pro)
c.4952A>C (p.Gln1651Pro)
c.5384A>C (p.Gln1795Pro)
8g.41668347G>ACA371051269ANK1c.5437C>T (p.Gln1813Ter)
c.5533C>T (p.Gln1845Ter)
c.5350C>T (p.Gln1784Ter)
c.5314C>T (p.Gln1772Ter)
c.1328C>T
c.886C>T
c.2792C>T
n.2708C>T
c.4828C>T (p.Gln1610Ter)
c.5578C>T (p.Gln1860Ter)
c.5479C>T (p.Gln1827Ter)
c.5413C>T (p.Gln1805Ter)
c.5395C>T (p.Gln1799Ter)
c.5047C>T (p.Gln1683Ter)
c.4927C>T (p.Gln1643Ter)
n.5169C>T
c.5554C>T (p.Gln1852Ter)
c.5491C>T (p.Gln1831Ter)
c.5482C>T (p.Gln1828Ter)
c.5092C>T (p.Gln1698Ter)
c.4951C>T (p.Gln1651Ter)
c.5383C>T (p.Gln1795Ter)
8g.41668347G>CCA4727322ANK1c.5437C>G (p.Gln1813Glu)
c.5533C>G (p.Gln1845Glu)
c.5350C>G (p.Gln1784Glu)
c.5314C>G (p.Gln1772Glu)
c.1328C>G
c.886C>G
c.2792C>G
n.2708C>G
c.4828C>G (p.Gln1610Glu)
c.5578C>G (p.Gln1860Glu)
c.5479C>G (p.Gln1827Glu)
c.5413C>G (p.Gln1805Glu)
c.5395C>G (p.Gln1799Glu)
c.5047C>G (p.Gln1683Glu)
c.4927C>G (p.Gln1643Glu)
n.5169C>G
c.5554C>G (p.Gln1852Glu)
c.5491C>G (p.Gln1831Glu)
c.5482C>G (p.Gln1828Glu)
c.5092C>G (p.Gln1698Glu)
c.4951C>G (p.Gln1651Glu)
c.5383C>G (p.Gln1795Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.41668347G=CA1779071070ANK1c.5437C= (p.Gln1813=)
c.5533C= (p.Gln1845=)
c.5350C= (p.Gln1784=)
c.5314C= (p.Gln1772=)
c.1328C=
c.886C=
c.2792C=
n.2708C=
c.4828C= (p.Gln1610=)
c.5578C= (p.Gln1860=)
c.5479C= (p.Gln1827=)
c.5413C= (p.Gln1805=)
c.5395C= (p.Gln1799=)
c.5047C= (p.Gln1683=)
c.4927C= (p.Gln1643=)
n.5169C=
c.5554C= (p.Gln1852=)
c.5491C= (p.Gln1831=)
c.5482C= (p.Gln1828=)
c.5092C= (p.Gln1698=)
c.4951C= (p.Gln1651=)
c.5383C= (p.Gln1795=)
8g.41668347G>TCA371051275ANK1c.5437C>A (p.Gln1813Lys)
c.5533C>A (p.Gln1845Lys)
c.5350C>A (p.Gln1784Lys)
c.5314C>A (p.Gln1772Lys)
c.1328C>A
c.886C>A
c.2792C>A
n.2708C>A
c.4828C>A (p.Gln1610Lys)
c.5578C>A (p.Gln1860Lys)
c.5479C>A (p.Gln1827Lys)
c.5413C>A (p.Gln1805Lys)
c.5395C>A (p.Gln1799Lys)
c.5047C>A (p.Gln1683Lys)
c.4927C>A (p.Gln1643Lys)
n.5169C>A
c.5554C>A (p.Gln1852Lys)
c.5491C>A (p.Gln1831Lys)
c.5482C>A (p.Gln1828Lys)
c.5092C>A (p.Gln1698Lys)
c.4951C>A (p.Gln1651Lys)
c.5383C>A (p.Gln1795Lys)
 COSMIC COSMIC
8g.41668348G>ACA460782014ANK1c.5436C>T (p.Ser1812=)
c.5532C>T (p.Ser1844=)
c.5349C>T (p.Ser1783=)
c.5313C>T (p.Ser1771=)
c.1327C>T
c.885C>T
c.2791C>T
n.2707C>T
c.4827C>T (p.Ser1609=)
c.5577C>T (p.Ser1859=)
c.5478C>T (p.Ser1826=)
c.5412C>T (p.Ser1804=)
c.5394C>T (p.Ser1798=)
c.5046C>T (p.Ser1682=)
c.4926C>T (p.Ser1642=)
n.5168C>T
c.5553C>T (p.Ser1851=)
c.5490C>T (p.Ser1830=)
c.5481C>T (p.Ser1827=)
c.5091C>T (p.Ser1697=)
c.4950C>T (p.Ser1650=)
c.5382C>T (p.Ser1794=)
8g.41668348G>CCA460782015ANK1c.5436C>G (p.Ser1812=)
c.5532C>G (p.Ser1844=)
c.5349C>G (p.Ser1783=)
c.5313C>G (p.Ser1771=)
c.1327C>G
c.885C>G
c.2791C>G
n.2707C>G
c.4827C>G (p.Ser1609=)
c.5577C>G (p.Ser1859=)
c.5478C>G (p.Ser1826=)
c.5412C>G (p.Ser1804=)
c.5394C>G (p.Ser1798=)
c.5046C>G (p.Ser1682=)
c.4926C>G (p.Ser1642=)
n.5168C>G
c.5553C>G (p.Ser1851=)
c.5490C>G (p.Ser1830=)
c.5481C>G (p.Ser1827=)
c.5091C>G (p.Ser1697=)
c.4950C>G (p.Ser1650=)
c.5382C>G (p.Ser1794=)
8g.41668348G>TCA460782016ANK1c.5436C>A (p.Ser1812=)
c.5532C>A (p.Ser1844=)
c.5349C>A (p.Ser1783=)
c.5313C>A (p.Ser1771=)
c.1327C>A
c.885C>A
c.2791C>A
n.2707C>A
c.4827C>A (p.Ser1609=)
c.5577C>A (p.Ser1859=)
c.5478C>A (p.Ser1826=)
c.5412C>A (p.Ser1804=)
c.5394C>A (p.Ser1798=)
c.5046C>A (p.Ser1682=)
c.4926C>A (p.Ser1642=)
n.5168C>A
c.5553C>A (p.Ser1851=)
c.5490C>A (p.Ser1830=)
c.5481C>A (p.Ser1827=)
c.5091C>A (p.Ser1697=)
c.4950C>A (p.Ser1650=)
c.5382C>A (p.Ser1794=)
 COSMIC COSMIC
8g.41668349G>ACA371051282ANK1c.5435C>T (p.Ser1812Phe)
c.5531C>T (p.Ser1844Phe)
c.5348C>T (p.Ser1783Phe)
c.5312C>T (p.Ser1771Phe)
c.1326C>T
c.884C>T
c.2790C>T
n.2706C>T
c.4826C>T (p.Ser1609Phe)
c.5576C>T (p.Ser1859Phe)
c.5477C>T (p.Ser1826Phe)
c.5411C>T (p.Ser1804Phe)
c.5393C>T (p.Ser1798Phe)
c.5045C>T (p.Ser1682Phe)
c.4925C>T (p.Ser1642Phe)
n.5167C>T
c.5552C>T (p.Ser1851Phe)
c.5489C>T (p.Ser1830Phe)
c.5480C>T (p.Ser1827Phe)
c.5090C>T (p.Ser1697Phe)
c.4949C>T (p.Ser1650Phe)
c.5381C>T (p.Ser1794Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.41668349G>CCA371051278ANK1c.5435C>G (p.Ser1812Cys)
c.5531C>G (p.Ser1844Cys)
c.5348C>G (p.Ser1783Cys)
c.5312C>G (p.Ser1771Cys)
c.1326C>G
c.884C>G
c.2790C>G
n.2706C>G
c.4826C>G (p.Ser1609Cys)
c.5576C>G (p.Ser1859Cys)
c.5477C>G (p.Ser1826Cys)
c.5411C>G (p.Ser1804Cys)
c.5393C>G (p.Ser1798Cys)
c.5045C>G (p.Ser1682Cys)
c.4925C>G (p.Ser1642Cys)
n.5167C>G
c.5552C>G (p.Ser1851Cys)
c.5489C>G (p.Ser1830Cys)
c.5480C>G (p.Ser1827Cys)
c.5090C>G (p.Ser1697Cys)
c.4949C>G (p.Ser1650Cys)
c.5381C>G (p.Ser1794Cys)
8g.41668349G=CA1779071072ANK1c.5435C= (p.Ser1812=)
c.5531C= (p.Ser1844=)
c.5348C= (p.Ser1783=)
c.5312C= (p.Ser1771=)
c.1326C=
c.884C=
c.2790C=
n.2706C=
c.4826C= (p.Ser1609=)
c.5576C= (p.Ser1859=)
c.5477C= (p.Ser1826=)
c.5411C= (p.Ser1804=)
c.5393C= (p.Ser1798=)
c.5045C= (p.Ser1682=)
c.4925C= (p.Ser1642=)
n.5167C=
c.5552C= (p.Ser1851=)
c.5489C= (p.Ser1830=)
c.5480C= (p.Ser1827=)
c.5090C= (p.Ser1697=)
c.4949C= (p.Ser1650=)
c.5381C= (p.Ser1794=)
8g.41668349G>TCA371051280ANK1c.5435C>A (p.Ser1812Tyr)
c.5531C>A (p.Ser1844Tyr)
c.5348C>A (p.Ser1783Tyr)
c.5312C>A (p.Ser1771Tyr)
c.1326C>A
c.884C>A
c.2790C>A
n.2706C>A
c.4826C>A (p.Ser1609Tyr)
c.5576C>A (p.Ser1859Tyr)
c.5477C>A (p.Ser1826Tyr)
c.5411C>A (p.Ser1804Tyr)
c.5393C>A (p.Ser1798Tyr)
c.5045C>A (p.Ser1682Tyr)
c.4925C>A (p.Ser1642Tyr)
n.5167C>A
c.5552C>A (p.Ser1851Tyr)
c.5489C>A (p.Ser1830Tyr)
c.5480C>A (p.Ser1827Tyr)
c.5090C>A (p.Ser1697Tyr)
c.4949C>A (p.Ser1650Tyr)
c.5381C>A (p.Ser1794Tyr)
8g.41668350A=CA1779071075ANK1c.5434T= (p.Ser1812=)
c.5530T= (p.Ser1844=)
c.5347T= (p.Ser1783=)
c.5311T= (p.Ser1771=)
c.1325T=
c.883T=
c.2789T=
n.2705T=
c.4825T= (p.Ser1609=)
c.5575T= (p.Ser1859=)
c.5476T= (p.Ser1826=)
c.5410T= (p.Ser1804=)
c.5392T= (p.Ser1798=)
c.5044T= (p.Ser1682=)
c.4924T= (p.Ser1642=)
c.*92T= (n.*92T=)
n.5166T=
c.5551T= (p.Ser1851=)
c.5488T= (p.Ser1830=)
c.5479T= (p.Ser1827=)
c.5089T= (p.Ser1697=)
c.4948T= (p.Ser1650=)
c.5380T= (p.Ser1794=)
8g.41668350A>CCA371051285ANK1c.5434T>G (p.Ser1812Ala)
c.5530T>G (p.Ser1844Ala)
c.5347T>G (p.Ser1783Ala)
c.5311T>G (p.Ser1771Ala)
c.1325T>G
c.883T>G
c.2789T>G
n.2705T>G
c.4825T>G (p.Ser1609Ala)
c.5575T>G (p.Ser1859Ala)
c.5476T>G (p.Ser1826Ala)
c.5410T>G (p.Ser1804Ala)
c.5392T>G (p.Ser1798Ala)
c.5044T>G (p.Ser1682Ala)
c.4924T>G (p.Ser1642Ala)
c.*92T>G (n.*92T>G)
n.5166T>G
c.5551T>G (p.Ser1851Ala)
c.5488T>G (p.Ser1830Ala)
c.5479T>G (p.Ser1827Ala)
c.5089T>G (p.Ser1697Ala)
c.4948T>G (p.Ser1650Ala)
c.5380T>G (p.Ser1794Ala)
8g.41668350A>GCA175914250ANK1c.5434T>C (p.Ser1812Pro)
c.5530T>C (p.Ser1844Pro)
c.5347T>C (p.Ser1783Pro)
c.5311T>C (p.Ser1771Pro)
c.1325T>C
c.883T>C
c.2789T>C
n.2705T>C
c.4825T>C (p.Ser1609Pro)
c.5575T>C (p.Ser1859Pro)
c.5476T>C (p.Ser1826Pro)
c.5410T>C (p.Ser1804Pro)
c.5392T>C (p.Ser1798Pro)
c.5044T>C (p.Ser1682Pro)
c.4924T>C (p.Ser1642Pro)
c.*92T>C (n.*92T>C)
n.5166T>C
c.5551T>C (p.Ser1851Pro)
c.5488T>C (p.Ser1830Pro)
c.5479T>C (p.Ser1827Pro)
c.5089T>C (p.Ser1697Pro)
c.4948T>C (p.Ser1650Pro)
c.5380T>C (p.Ser1794Pro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.41668350A>TCA371051289ANK1c.5434T>A (p.Ser1812Thr)
c.5530T>A (p.Ser1844Thr)
c.5347T>A (p.Ser1783Thr)
c.5311T>A (p.Ser1771Thr)
c.1325T>A
c.883T>A
c.2789T>A
n.2705T>A
c.4825T>A (p.Ser1609Thr)
c.5575T>A (p.Ser1859Thr)
c.5476T>A (p.Ser1826Thr)
c.5410T>A (p.Ser1804Thr)
c.5392T>A (p.Ser1798Thr)
c.5044T>A (p.Ser1682Thr)
c.4924T>A (p.Ser1642Thr)
c.*92T>A (n.*92T>A)
n.5166T>A
c.5551T>A (p.Ser1851Thr)
c.5488T>A (p.Ser1830Thr)
c.5479T>A (p.Ser1827Thr)
c.5089T>A (p.Ser1697Thr)
c.4948T>A (p.Ser1650Thr)
c.5380T>A (p.Ser1794Thr)
8g.41668351G>ACA460782017ANK1c.5433C>T (p.Ser1811=)
c.5529C>T (p.Ser1843=)
c.5346C>T (p.Ser1782=)
c.5310C>T (p.Ser1770=)
c.1324C>T
c.882C>T
c.2788C>T
n.2704C>T
c.4824C>T (p.Ser1608=)
c.5574C>T (p.Ser1858=)
c.5475C>T (p.Ser1825=)
c.5409C>T (p.Ser1803=)
c.5391C>T (p.Ser1797=)
c.5043C>T (p.Ser1681=)
c.4923C>T (p.Ser1641=)
c.*91C>T (n.*91C>T)
n.5165C>T
c.5550C>T (p.Ser1850=)
c.5487C>T (p.Ser1829=)
c.5478C>T (p.Ser1826=)
c.5088C>T (p.Ser1696=)
c.4947C>T (p.Ser1649=)
c.5379C>T (p.Ser1793=)
8g.41668351G>CCA371051292ANK1c.5433C>G (p.Ser1811Arg)
c.5529C>G (p.Ser1843Arg)
c.5346C>G (p.Ser1782Arg)
c.5310C>G (p.Ser1770Arg)
c.1324C>G
c.882C>G
c.2788C>G
n.2704C>G
c.4824C>G (p.Ser1608Arg)
c.5574C>G (p.Ser1858Arg)
c.5475C>G (p.Ser1825Arg)
c.5409C>G (p.Ser1803Arg)
c.5391C>G (p.Ser1797Arg)
c.5043C>G (p.Ser1681Arg)
c.4923C>G (p.Ser1641Arg)
c.*91C>G (n.*91C>G)
n.5165C>G
c.5550C>G (p.Ser1850Arg)
c.5487C>G (p.Ser1829Arg)
c.5478C>G (p.Ser1826Arg)
c.5088C>G (p.Ser1696Arg)
c.4947C>G (p.Ser1649Arg)
c.5379C>G (p.Ser1793Arg)
8g.41668351G>TCA371051294ANK1c.5433C>A (p.Ser1811Arg)
c.5529C>A (p.Ser1843Arg)
c.5346C>A (p.Ser1782Arg)
c.5310C>A (p.Ser1770Arg)
c.1324C>A
c.882C>A
c.2788C>A
n.2704C>A
c.4824C>A (p.Ser1608Arg)
c.5574C>A (p.Ser1858Arg)
c.5475C>A (p.Ser1825Arg)
c.5409C>A (p.Ser1803Arg)
c.5391C>A (p.Ser1797Arg)
c.5043C>A (p.Ser1681Arg)
c.4923C>A (p.Ser1641Arg)
c.*91C>A (n.*91C>A)
n.5165C>A
c.5550C>A (p.Ser1850Arg)
c.5487C>A (p.Ser1829Arg)
c.5478C>A (p.Ser1826Arg)
c.5088C>A (p.Ser1696Arg)
c.4947C>A (p.Ser1649Arg)
c.5379C>A (p.Ser1793Arg)
8g.41668352C>ACA371051298ANK1c.5432G>T (p.Ser1811Ile)
c.5528G>T (p.Ser1843Ile)
c.5345G>T (p.Ser1782Ile)
c.5309G>T (p.Ser1770Ile)
c.1323G>T
c.881G>T
c.2787G>T
n.2703G>T
c.4823G>T (p.Ser1608Ile)
c.5573G>T (p.Ser1858Ile)
c.5474G>T (p.Ser1825Ile)
c.5408G>T (p.Ser1803Ile)
c.5390G>T (p.Ser1797Ile)
c.5042G>T (p.Ser1681Ile)
c.4922G>T (p.Ser1641Ile)
c.*90G>T (n.*90G>T)
n.5164G>T
c.5549G>T (p.Ser1850Ile)
c.5486G>T (p.Ser1829Ile)
c.5477G>T (p.Ser1826Ile)
c.5087G>T (p.Ser1696Ile)
c.4946G>T (p.Ser1649Ile)
c.5378G>T (p.Ser1793Ile)
8g.41668352C>GCA371051302ANK1c.5432G>C (p.Ser1811Thr)
c.5528G>C (p.Ser1843Thr)
c.5345G>C (p.Ser1782Thr)
c.5309G>C (p.Ser1770Thr)
c.1323G>C
c.881G>C
c.2787G>C
n.2703G>C
c.4823G>C (p.Ser1608Thr)
c.5573G>C (p.Ser1858Thr)
c.5474G>C (p.Ser1825Thr)
c.5408G>C (p.Ser1803Thr)
c.5390G>C (p.Ser1797Thr)
c.5042G>C (p.Ser1681Thr)
c.4922G>C (p.Ser1641Thr)
c.*90G>C (n.*90G>C)
n.5164G>C
c.5549G>C (p.Ser1850Thr)
c.5486G>C (p.Ser1829Thr)
c.5477G>C (p.Ser1826Thr)
c.5087G>C (p.Ser1696Thr)
c.4946G>C (p.Ser1649Thr)
c.5378G>C (p.Ser1793Thr)
8g.41668352C>TCA371051300ANK1c.5432G>A (p.Ser1811Asn)
c.5528G>A (p.Ser1843Asn)
c.5345G>A (p.Ser1782Asn)
c.5309G>A (p.Ser1770Asn)
c.1323G>A
c.881G>A
c.2787G>A
n.2703G>A
c.4823G>A (p.Ser1608Asn)
c.5573G>A (p.Ser1858Asn)
c.5474G>A (p.Ser1825Asn)
c.5408G>A (p.Ser1803Asn)
c.5390G>A (p.Ser1797Asn)
c.5042G>A (p.Ser1681Asn)
c.4922G>A (p.Ser1641Asn)
c.*90G>A (n.*90G>A)
n.5164G>A
c.5549G>A (p.Ser1850Asn)
c.5486G>A (p.Ser1829Asn)
c.5477G>A (p.Ser1826Asn)
c.5087G>A (p.Ser1696Asn)
c.4946G>A (p.Ser1649Asn)
c.5378G>A (p.Ser1793Asn)
8g.41668353T>ACA371051305ANK1c.5431A>T (p.Ser1811Cys)
c.5527A>T (p.Ser1843Cys)
c.5344A>T (p.Ser1782Cys)
c.5308A>T (p.Ser1770Cys)
c.1322A>T
c.880A>T
c.2786A>T
n.2702A>T
c.4822A>T (p.Ser1608Cys)
c.5572A>T (p.Ser1858Cys)
c.5473A>T (p.Ser1825Cys)
c.5407A>T (p.Ser1803Cys)
c.5389A>T (p.Ser1797Cys)
c.5041A>T (p.Ser1681Cys)
c.4921A>T (p.Ser1641Cys)
c.*89A>T (n.*89A>T)
n.5163A>T
c.5548A>T (p.Ser1850Cys)
c.5485A>T (p.Ser1829Cys)
c.5476A>T (p.Ser1826Cys)
c.5086A>T (p.Ser1696Cys)
c.4945A>T (p.Ser1649Cys)
c.5377A>T (p.Ser1793Cys)
8g.41668353T>CCA371051307ANK1c.5431A>G (p.Ser1811Gly)
c.5527A>G (p.Ser1843Gly)
c.5344A>G (p.Ser1782Gly)
c.5308A>G (p.Ser1770Gly)
c.1322A>G
c.880A>G
c.2786A>G
n.2702A>G
c.4822A>G (p.Ser1608Gly)
c.5572A>G (p.Ser1858Gly)
c.5473A>G (p.Ser1825Gly)
c.5407A>G (p.Ser1803Gly)
c.5389A>G (p.Ser1797Gly)
c.5041A>G (p.Ser1681Gly)
c.4921A>G (p.Ser1641Gly)
c.*89A>G (n.*89A>G)
n.5163A>G
c.5548A>G (p.Ser1850Gly)
c.5485A>G (p.Ser1829Gly)
c.5476A>G (p.Ser1826Gly)
c.5086A>G (p.Ser1696Gly)
c.4945A>G (p.Ser1649Gly)
c.5377A>G (p.Ser1793Gly)
8g.41668353T>GCA371051308ANK1c.5431A>C (p.Ser1811Arg)
c.5527A>C (p.Ser1843Arg)
c.5344A>C (p.Ser1782Arg)
c.5308A>C (p.Ser1770Arg)
c.1322A>C
c.880A>C
c.2786A>C
n.2702A>C
c.4822A>C (p.Ser1608Arg)
c.5572A>C (p.Ser1858Arg)
c.5473A>C (p.Ser1825Arg)
c.5407A>C (p.Ser1803Arg)
c.5389A>C (p.Ser1797Arg)
c.5041A>C (p.Ser1681Arg)
c.4921A>C (p.Ser1641Arg)
c.*89A>C (n.*89A>C)
n.5163A>C
c.5548A>C (p.Ser1850Arg)
c.5485A>C (p.Ser1829Arg)
c.5476A>C (p.Ser1826Arg)
c.5086A>C (p.Ser1696Arg)
c.4945A>C (p.Ser1649Arg)
c.5377A>C (p.Ser1793Arg)
8g.41668354C>ACA371051309ANK1c.5430G>T (p.Glu1810Asp)
c.5526G>T (p.Glu1842Asp)
c.5343G>T (p.Glu1781Asp)
c.5307G>T (p.Glu1769Asp)
c.1321G>T
c.879G>T
c.2785G>T
n.2701G>T
c.4821G>T (p.Glu1607Asp)
c.5571G>T (p.Glu1857Asp)
c.5472G>T (p.Glu1824Asp)
c.5406G>T (p.Glu1802Asp)
c.5388G>T (p.Glu1796Asp)
c.5040G>T (p.Glu1680Asp)
c.4920G>T (p.Glu1640Asp)
c.*88G>T (n.*88G>T)
n.5162G>T
c.5547G>T (p.Glu1849Asp)
c.5484G>T (p.Glu1828Asp)
c.5475G>T (p.Glu1825Asp)
c.5085G>T (p.Glu1695Asp)
c.4944G>T (p.Glu1648Asp)
c.5376G>T (p.Glu1792Asp)
8g.41668354C>GCA371051310ANK1c.5430G>C (p.Glu1810Asp)
c.5526G>C (p.Glu1842Asp)
c.5343G>C (p.Glu1781Asp)
c.5307G>C (p.Glu1769Asp)
c.1321G>C
c.879G>C
c.2785G>C
n.2701G>C
c.4821G>C (p.Glu1607Asp)
c.5571G>C (p.Glu1857Asp)
c.5472G>C (p.Glu1824Asp)
c.5406G>C (p.Glu1802Asp)
c.5388G>C (p.Glu1796Asp)
c.5040G>C (p.Glu1680Asp)
c.4920G>C (p.Glu1640Asp)
c.*88G>C (n.*88G>C)
n.5162G>C
c.5547G>C (p.Glu1849Asp)
c.5484G>C (p.Glu1828Asp)
c.5475G>C (p.Glu1825Asp)
c.5085G>C (p.Glu1695Asp)
c.4944G>C (p.Glu1648Asp)
c.5376G>C (p.Glu1792Asp)
 gnomAD v4
8g.41668354C>TCA460782018ANK1c.5430G>A (p.Glu1810=)
c.5526G>A (p.Glu1842=)
c.5343G>A (p.Glu1781=)
c.5307G>A (p.Glu1769=)
c.1321G>A
c.879G>A
c.2785G>A
n.2701G>A
c.4821G>A (p.Glu1607=)
c.5571G>A (p.Glu1857=)
c.5472G>A (p.Glu1824=)
c.5406G>A (p.Glu1802=)
c.5388G>A (p.Glu1796=)
c.5040G>A (p.Glu1680=)
c.4920G>A (p.Glu1640=)
c.*88G>A (n.*88G>A)
n.5162G>A
c.5547G>A (p.Glu1849=)
c.5484G>A (p.Glu1828=)
c.5475G>A (p.Glu1825=)
c.5085G>A (p.Glu1695=)
c.4944G>A (p.Glu1648=)
c.5376G>A (p.Glu1792=)
 gnomAD v4
8g.41668355T>ACA371051311ANK1c.5429A>T (p.Glu1810Val)
c.5525A>T (p.Glu1842Val)
c.5342A>T (p.Glu1781Val)
c.5306A>T (p.Glu1769Val)
c.1320A>T
c.878A>T
c.2784A>T
n.2700A>T
c.4820A>T (p.Glu1607Val)
c.5570A>T (p.Glu1857Val)
c.5471A>T (p.Glu1824Val)
c.5405A>T (p.Glu1802Val)
c.5387A>T (p.Glu1796Val)
c.5039A>T (p.Glu1680Val)
c.4919A>T (p.Glu1640Val)
c.*87A>T (n.*87A>T)
n.5161A>T
c.5546A>T (p.Glu1849Val)
c.5483A>T (p.Glu1828Val)
c.5474A>T (p.Glu1825Val)
c.5084A>T (p.Glu1695Val)
c.4943A>T (p.Glu1648Val)
c.5375A>T (p.Glu1792Val)
8g.41668355T>CCA371051312ANK1c.5429A>G (p.Glu1810Gly)
c.5525A>G (p.Glu1842Gly)
c.5342A>G (p.Glu1781Gly)
c.5306A>G (p.Glu1769Gly)
c.1320A>G
c.878A>G
c.2784A>G
n.2700A>G
c.4820A>G (p.Glu1607Gly)
c.5570A>G (p.Glu1857Gly)
c.5471A>G (p.Glu1824Gly)
c.5405A>G (p.Glu1802Gly)
c.5387A>G (p.Glu1796Gly)
c.5039A>G (p.Glu1680Gly)
c.4919A>G (p.Glu1640Gly)
c.*87A>G (n.*87A>G)
n.5161A>G
c.5546A>G (p.Glu1849Gly)
c.5483A>G (p.Glu1828Gly)
c.5474A>G (p.Glu1825Gly)
c.5084A>G (p.Glu1695Gly)
c.4943A>G (p.Glu1648Gly)
c.5375A>G (p.Glu1792Gly)
 gnomAD v4
8g.41668355T>GCA371051313ANK1c.5429A>C (p.Glu1810Ala)
c.5525A>C (p.Glu1842Ala)
c.5342A>C (p.Glu1781Ala)
c.5306A>C (p.Glu1769Ala)
c.1320A>C
c.878A>C
c.2784A>C
n.2700A>C
c.4820A>C (p.Glu1607Ala)
c.5570A>C (p.Glu1857Ala)
c.5471A>C (p.Glu1824Ala)
c.5405A>C (p.Glu1802Ala)
c.5387A>C (p.Glu1796Ala)
c.5039A>C (p.Glu1680Ala)
c.4919A>C (p.Glu1640Ala)
c.*87A>C (n.*87A>C)
n.5161A>C
c.5546A>C (p.Glu1849Ala)
c.5483A>C (p.Glu1828Ala)
c.5474A>C (p.Glu1825Ala)
c.5084A>C (p.Glu1695Ala)
c.4943A>C (p.Glu1648Ala)
c.5375A>C (p.Glu1792Ala)
8g.41668356C>ACA371051314ANK1c.5428G>T (p.Glu1810Ter)
c.5524G>T (p.Glu1842Ter)
c.5341G>T (p.Glu1781Ter)
c.5305G>T (p.Glu1769Ter)
c.1319G>T
c.877G>T
c.2783G>T
n.2699G>T
c.4819G>T (p.Glu1607Ter)
c.5569G>T (p.Glu1857Ter)
c.5470G>T (p.Glu1824Ter)
c.5404G>T (p.Glu1802Ter)
c.5386G>T (p.Glu1796Ter)
c.5038G>T (p.Glu1680Ter)
c.4918G>T (p.Glu1640Ter)
c.*86G>T (n.*86G>T)
n.5160G>T
c.5545G>T (p.Glu1849Ter)
c.5482G>T (p.Glu1828Ter)
c.5473G>T (p.Glu1825Ter)
c.5083G>T (p.Glu1695Ter)
c.4942G>T (p.Glu1648Ter)
c.5374G>T (p.Glu1792Ter)
8g.41668356C>GCA371051315ANK1c.5428G>C (p.Glu1810Gln)
c.5524G>C (p.Glu1842Gln)
c.5341G>C (p.Glu1781Gln)
c.5305G>C (p.Glu1769Gln)
c.1319G>C
c.877G>C
c.2783G>C
n.2699G>C
c.4819G>C (p.Glu1607Gln)
c.5569G>C (p.Glu1857Gln)
c.5470G>C (p.Glu1824Gln)
c.5404G>C (p.Glu1802Gln)
c.5386G>C (p.Glu1796Gln)
c.5038G>C (p.Glu1680Gln)
c.4918G>C (p.Glu1640Gln)
c.*86G>C (n.*86G>C)
n.5160G>C
c.5545G>C (p.Glu1849Gln)
c.5482G>C (p.Glu1828Gln)
c.5473G>C (p.Glu1825Gln)
c.5083G>C (p.Glu1695Gln)
c.4942G>C (p.Glu1648Gln)
c.5374G>C (p.Glu1792Gln)
8g.41668356C>TCA371051316ANK1c.5428G>A (p.Glu1810Lys)
c.5524G>A (p.Glu1842Lys)
c.5341G>A (p.Glu1781Lys)
c.5305G>A (p.Glu1769Lys)
c.1319G>A
c.877G>A
c.2783G>A
n.2699G>A
c.4819G>A (p.Glu1607Lys)
c.5569G>A (p.Glu1857Lys)
c.5470G>A (p.Glu1824Lys)
c.5404G>A (p.Glu1802Lys)
c.5386G>A (p.Glu1796Lys)
c.5038G>A (p.Glu1680Lys)
c.4918G>A (p.Glu1640Lys)
c.*86G>A (n.*86G>A)
n.5160G>A
c.5545G>A (p.Glu1849Lys)
c.5482G>A (p.Glu1828Lys)
c.5473G>A (p.Glu1825Lys)
c.5083G>A (p.Glu1695Lys)
c.4942G>A (p.Glu1648Lys)
c.5374G>A (p.Glu1792Lys)
8g.41668357A>CCA460782019ANK1c.5427T>G (p.Ala1809=)
c.5523T>G (p.Ala1841=)
c.5340T>G (p.Ala1780=)
c.5304T>G (p.Ala1768=)
c.1318T>G
c.876T>G
c.2782T>G
n.2698T>G
c.4818T>G (p.Ala1606=)
c.5568T>G (p.Ala1856=)
c.5469T>G (p.Ala1823=)
c.5403T>G (p.Ala1801=)
c.5385T>G (p.Ala1795=)
c.5037T>G (p.Ala1679=)
c.4917T>G (p.Ala1639=)
c.*85T>G (n.*85T>G)
n.5159T>G
c.5544T>G (p.Ala1848=)
c.5481T>G (p.Ala1827=)
c.5472T>G (p.Ala1824=)
c.5082T>G (p.Ala1694=)
c.4941T>G (p.Ala1647=)
c.5373T>G (p.Ala1791=)
8g.41668357A>GCA460782020ANK1c.5427T>C (p.Ala1809=)
c.5523T>C (p.Ala1841=)
c.5340T>C (p.Ala1780=)
c.5304T>C (p.Ala1768=)
c.1318T>C
c.876T>C
c.2782T>C
n.2698T>C
c.4818T>C (p.Ala1606=)
c.5568T>C (p.Ala1856=)
c.5469T>C (p.Ala1823=)
c.5403T>C (p.Ala1801=)
c.5385T>C (p.Ala1795=)
c.5037T>C (p.Ala1679=)
c.4917T>C (p.Ala1639=)
c.*85T>C (n.*85T>C)
n.5159T>C
c.5544T>C (p.Ala1848=)
c.5481T>C (p.Ala1827=)
c.5472T>C (p.Ala1824=)
c.5082T>C (p.Ala1694=)
c.4941T>C (p.Ala1647=)
c.5373T>C (p.Ala1791=)
8g.41668357A>TCA460782021ANK1c.5427T>A (p.Ala1809=)
c.5523T>A (p.Ala1841=)
c.5340T>A (p.Ala1780=)
c.5304T>A (p.Ala1768=)
c.1318T>A
c.876T>A
c.2782T>A
n.2698T>A
c.4818T>A (p.Ala1606=)
c.5568T>A (p.Ala1856=)
c.5469T>A (p.Ala1823=)
c.5403T>A (p.Ala1801=)
c.5385T>A (p.Ala1795=)
c.5037T>A (p.Ala1679=)
c.4917T>A (p.Ala1639=)
c.*85T>A (n.*85T>A)
n.5159T>A
c.5544T>A (p.Ala1848=)
c.5481T>A (p.Ala1827=)
c.5472T>A (p.Ala1824=)
c.5082T>A (p.Ala1694=)
c.4941T>A (p.Ala1647=)
c.5373T>A (p.Ala1791=)
8g.41668358G>ACA371051317ANK1c.5426C>T (p.Ala1809Val)
c.5522C>T (p.Ala1841Val)
c.5339C>T (p.Ala1780Val)
c.5303C>T (p.Ala1768Val)
c.1317C>T
c.875C>T
c.2781C>T
n.2697C>T
c.4817C>T (p.Ala1606Val)
c.5567C>T (p.Ala1856Val)
c.5468C>T (p.Ala1823Val)
c.5402C>T (p.Ala1801Val)
c.5384C>T (p.Ala1795Val)
c.5036C>T (p.Ala1679Val)
c.4916C>T (p.Ala1639Val)
c.*84C>T (n.*84C>T)
n.5158C>T
c.5543C>T (p.Ala1848Val)
c.5480C>T (p.Ala1827Val)
c.5471C>T (p.Ala1824Val)
c.5081C>T (p.Ala1694Val)
c.4940C>T (p.Ala1647Val)
c.5372C>T (p.Ala1791Val)
8g.41668358G>CCA371051319ANK1c.5426C>G (p.Ala1809Gly)
c.5522C>G (p.Ala1841Gly)
c.5339C>G (p.Ala1780Gly)
c.5303C>G (p.Ala1768Gly)
c.1317C>G
c.875C>G
c.2781C>G
n.2697C>G
c.4817C>G (p.Ala1606Gly)
c.5567C>G (p.Ala1856Gly)
c.5468C>G (p.Ala1823Gly)
c.5402C>G (p.Ala1801Gly)
c.5384C>G (p.Ala1795Gly)
c.5036C>G (p.Ala1679Gly)
c.4916C>G (p.Ala1639Gly)
c.*84C>G (n.*84C>G)
n.5158C>G
c.5543C>G (p.Ala1848Gly)
c.5480C>G (p.Ala1827Gly)
c.5471C>G (p.Ala1824Gly)
c.5081C>G (p.Ala1694Gly)
c.4940C>G (p.Ala1647Gly)
c.5372C>G (p.Ala1791Gly)
8g.41668358G>TCA371051318ANK1c.5426C>A (p.Ala1809Asp)
c.5522C>A (p.Ala1841Asp)
c.5339C>A (p.Ala1780Asp)
c.5303C>A (p.Ala1768Asp)
c.1317C>A
c.875C>A
c.2781C>A
n.2697C>A
c.4817C>A (p.Ala1606Asp)
c.5567C>A (p.Ala1856Asp)
c.5468C>A (p.Ala1823Asp)
c.5402C>A (p.Ala1801Asp)
c.5384C>A (p.Ala1795Asp)
c.5036C>A (p.Ala1679Asp)
c.4916C>A (p.Ala1639Asp)
c.*84C>A (n.*84C>A)
n.5158C>A
c.5543C>A (p.Ala1848Asp)
c.5480C>A (p.Ala1827Asp)
c.5471C>A (p.Ala1824Asp)
c.5081C>A (p.Ala1694Asp)
c.4940C>A (p.Ala1647Asp)
c.5372C>A (p.Ala1791Asp)
8g.41668359C>ACA371051320ANK1c.5425G>T (p.Ala1809Ser)
c.5521G>T (p.Ala1841Ser)
c.5338G>T (p.Ala1780Ser)
c.5302G>T (p.Ala1768Ser)
c.1316G>T
c.874G>T
c.2780G>T
n.2696G>T
c.4816G>T (p.Ala1606Ser)
c.5566G>T (p.Ala1856Ser)
c.5467G>T (p.Ala1823Ser)
c.5401G>T (p.Ala1801Ser)
c.5383G>T (p.Ala1795Ser)
c.5035G>T (p.Ala1679Ser)
c.4915G>T (p.Ala1639Ser)
c.*83G>T (n.*83G>T)
n.5157G>T
c.5542G>T (p.Ala1848Ser)
c.5479G>T (p.Ala1827Ser)
c.5470G>T (p.Ala1824Ser)
c.5080G>T (p.Ala1694Ser)
c.4939G>T (p.Ala1647Ser)
c.5371G>T (p.Ala1791Ser)
8g.41668359C>GCA371051322ANK1c.5425G>C (p.Ala1809Pro)
c.5521G>C (p.Ala1841Pro)
c.5338G>C (p.Ala1780Pro)
c.5302G>C (p.Ala1768Pro)
c.1316G>C
c.874G>C
c.2780G>C
n.2696G>C
c.4816G>C (p.Ala1606Pro)
c.5566G>C (p.Ala1856Pro)
c.5467G>C (p.Ala1823Pro)
c.5401G>C (p.Ala1801Pro)
c.5383G>C (p.Ala1795Pro)
c.5035G>C (p.Ala1679Pro)
c.4915G>C (p.Ala1639Pro)
c.*83G>C (n.*83G>C)
n.5157G>C
c.5542G>C (p.Ala1848Pro)
c.5479G>C (p.Ala1827Pro)
c.5470G>C (p.Ala1824Pro)
c.5080G>C (p.Ala1694Pro)
c.4939G>C (p.Ala1647Pro)
c.5371G>C (p.Ala1791Pro)
8g.41668359C>TCA371051321ANK1c.5425G>A (p.Ala1809Thr)
c.5521G>A (p.Ala1841Thr)
c.5338G>A (p.Ala1780Thr)
c.5302G>A (p.Ala1768Thr)
c.1316G>A
c.874G>A
c.2780G>A
n.2696G>A
c.4816G>A (p.Ala1606Thr)
c.5566G>A (p.Ala1856Thr)
c.5467G>A (p.Ala1823Thr)
c.5401G>A (p.Ala1801Thr)
c.5383G>A (p.Ala1795Thr)
c.5035G>A (p.Ala1679Thr)
c.4915G>A (p.Ala1639Thr)
c.*83G>A (n.*83G>A)
n.5157G>A
c.5542G>A (p.Ala1848Thr)
c.5479G>A (p.Ala1827Thr)
c.5470G>A (p.Ala1824Thr)
c.5080G>A (p.Ala1694Thr)
c.4939G>A (p.Ala1647Thr)
c.5371G>A (p.Ala1791Thr)
 gnomAD v4 COSMIC COSMIC
8g.41668360C>ACA371051323ANK1c.5424G>T (p.Glu1808Asp)
c.5520G>T (p.Glu1840Asp)
c.5337G>T (p.Glu1779Asp)
c.5301G>T (p.Glu1767Asp)
c.1315G>T
c.873G>T
c.2779G>T
n.2695G>T
c.4815G>T (p.Glu1605Asp)
c.5565G>T (p.Glu1855Asp)
c.5466G>T (p.Glu1822Asp)
c.5400G>T (p.Glu1800Asp)
c.5382G>T (p.Glu1794Asp)
c.5034G>T (p.Glu1678Asp)
c.4914G>T (p.Glu1638Asp)
c.*82G>T (n.*82G>T)
n.5156G>T
c.5541G>T (p.Glu1847Asp)
c.5478G>T (p.Glu1826Asp)
c.5469G>T (p.Glu1823Asp)
c.5079G>T (p.Glu1693Asp)
c.4938G>T (p.Glu1646Asp)
c.5370G>T (p.Glu1790Asp)
8g.41668360C=CA1779071078ANK1c.5424G= (p.Glu1808=)
c.5520G= (p.Glu1840=)
c.5337G= (p.Glu1779=)
c.5301G= (p.Glu1767=)
c.1315G=
c.873G=
c.2779G=
n.2695G=
c.4815G= (p.Glu1605=)
c.5565G= (p.Glu1855=)
c.5466G= (p.Glu1822=)
c.5400G= (p.Glu1800=)
c.5382G= (p.Glu1794=)
c.5034G= (p.Glu1678=)
c.4914G= (p.Glu1638=)
c.*82G= (n.*82G=)
n.5156G=
c.5541G= (p.Glu1847=)
c.5478G= (p.Glu1826=)
c.5469G= (p.Glu1823=)
c.5079G= (p.Glu1693=)
c.4938G= (p.Glu1646=)
c.5370G= (p.Glu1790=)
8g.41668360C>GCA371051324ANK1c.5424G>C (p.Glu1808Asp)
c.5520G>C (p.Glu1840Asp)
c.5337G>C (p.Glu1779Asp)
c.5301G>C (p.Glu1767Asp)
c.1315G>C
c.873G>C
c.2779G>C
n.2695G>C
c.4815G>C (p.Glu1605Asp)
c.5565G>C (p.Glu1855Asp)
c.5466G>C (p.Glu1822Asp)
c.5400G>C (p.Glu1800Asp)
c.5382G>C (p.Glu1794Asp)
c.5034G>C (p.Glu1678Asp)
c.4914G>C (p.Glu1638Asp)
c.*82G>C (n.*82G>C)
n.5156G>C
c.5541G>C (p.Glu1847Asp)
c.5478G>C (p.Glu1826Asp)
c.5469G>C (p.Glu1823Asp)
c.5079G>C (p.Glu1693Asp)
c.4938G>C (p.Glu1646Asp)
c.5370G>C (p.Glu1790Asp)
8g.41668360C>TCA4727323ANK1c.5424G>A (p.Glu1808=)
c.5520G>A (p.Glu1840=)
c.5337G>A (p.Glu1779=)
c.5301G>A (p.Glu1767=)
c.1315G>A
c.873G>A
c.2779G>A
n.2695G>A
c.4815G>A (p.Glu1605=)
c.5565G>A (p.Glu1855=)
c.5466G>A (p.Glu1822=)
c.5400G>A (p.Glu1800=)
c.5382G>A (p.Glu1794=)
c.5034G>A (p.Glu1678=)
c.4914G>A (p.Glu1638=)
c.*82G>A (n.*82G>A)
n.5156G>A
c.5541G>A (p.Glu1847=)
c.5478G>A (p.Glu1826=)
c.5469G>A (p.Glu1823=)
c.5079G>A (p.Glu1693=)
c.4938G>A (p.Glu1646=)
c.5370G>A (p.Glu1790=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.41668361T>ACA371051325ANK1c.5423A>T (p.Glu1808Val)
c.5519A>T (p.Glu1840Val)
c.5336A>T (p.Glu1779Val)
c.5300A>T (p.Glu1767Val)
c.1314A>T
c.872A>T
c.2778A>T
n.2694A>T
c.4814A>T (p.Glu1605Val)
c.5564A>T (p.Glu1855Val)
c.5465A>T (p.Glu1822Val)
c.5399A>T (p.Glu1800Val)
c.5381A>T (p.Glu1794Val)
c.5033A>T (p.Glu1678Val)
c.4913A>T (p.Glu1638Val)
c.*81A>T (n.*81A>T)
n.5155A>T
c.5540A>T (p.Glu1847Val)
c.5477A>T (p.Glu1826Val)
c.5468A>T (p.Glu1823Val)
c.5078A>T (p.Glu1693Val)
c.4937A>T (p.Glu1646Val)
c.5369A>T (p.Glu1790Val)
8g.41668361T>CCA371051326ANK1c.5423A>G (p.Glu1808Gly)
c.5519A>G (p.Glu1840Gly)
c.5336A>G (p.Glu1779Gly)
c.5300A>G (p.Glu1767Gly)
c.1314A>G
c.872A>G
c.2778A>G
n.2694A>G
c.4814A>G (p.Glu1605Gly)
c.5564A>G (p.Glu1855Gly)
c.5465A>G (p.Glu1822Gly)
c.5399A>G (p.Glu1800Gly)
c.5381A>G (p.Glu1794Gly)
c.5033A>G (p.Glu1678Gly)
c.4913A>G (p.Glu1638Gly)
c.*81A>G (n.*81A>G)
n.5155A>G
c.5540A>G (p.Glu1847Gly)
c.5477A>G (p.Glu1826Gly)
c.5468A>G (p.Glu1823Gly)
c.5078A>G (p.Glu1693Gly)
c.4937A>G (p.Glu1646Gly)
c.5369A>G (p.Glu1790Gly)
8g.41668361T>GCA371051327ANK1c.5423A>C (p.Glu1808Ala)
c.5519A>C (p.Glu1840Ala)
c.5336A>C (p.Glu1779Ala)
c.5300A>C (p.Glu1767Ala)
c.1314A>C
c.872A>C
c.2778A>C
n.2694A>C
c.4814A>C (p.Glu1605Ala)
c.5564A>C (p.Glu1855Ala)
c.5465A>C (p.Glu1822Ala)
c.5399A>C (p.Glu1800Ala)
c.5381A>C (p.Glu1794Ala)
c.5033A>C (p.Glu1678Ala)
c.4913A>C (p.Glu1638Ala)
c.*81A>C (n.*81A>C)
n.5155A>C
c.5540A>C (p.Glu1847Ala)
c.5477A>C (p.Glu1826Ala)
c.5468A>C (p.Glu1823Ala)
c.5078A>C (p.Glu1693Ala)
c.4937A>C (p.Glu1646Ala)
c.5369A>C (p.Glu1790Ala)
8g.41668362C>ACA371051328ANK1c.5422G>T (p.Glu1808Ter)
c.5518G>T (p.Glu1840Ter)
c.5335G>T (p.Glu1779Ter)
c.5299G>T (p.Glu1767Ter)
c.1313G>T
c.871G>T
c.2777G>T
n.2693G>T
c.4813G>T (p.Glu1605Ter)
c.5563G>T (p.Glu1855Ter)
c.5464G>T (p.Glu1822Ter)
c.5398G>T (p.Glu1800Ter)
c.5380G>T (p.Glu1794Ter)
c.5032G>T (p.Glu1678Ter)
c.4912G>T (p.Glu1638Ter)
c.*80G>T (n.*80G>T)
n.5154G>T
c.5539G>T (p.Glu1847Ter)
c.5476G>T (p.Glu1826Ter)
c.5467G>T (p.Glu1823Ter)
c.5077G>T (p.Glu1693Ter)
c.4936G>T (p.Glu1646Ter)
c.5368G>T (p.Glu1790Ter)
8g.41668362C=CA1779071084ANK1c.5422G= (p.Glu1808=)
c.5518G= (p.Glu1840=)
c.5335G= (p.Glu1779=)
c.5299G= (p.Glu1767=)
c.1313G=
c.871G=
c.2777G=
n.2693G=
c.4813G= (p.Glu1605=)
c.5563G= (p.Glu1855=)
c.5464G= (p.Glu1822=)
c.5398G= (p.Glu1800=)
c.5380G= (p.Glu1794=)
c.5032G= (p.Glu1678=)
c.4912G= (p.Glu1638=)
c.*80G= (n.*80G=)
n.5154G=
c.5539G= (p.Glu1847=)
c.5476G= (p.Glu1826=)
c.5467G= (p.Glu1823=)
c.5077G= (p.Glu1693=)
c.4936G= (p.Glu1646=)
c.5368G= (p.Glu1790=)
8g.41668362C>GCA371051329ANK1c.5422G>C (p.Glu1808Gln)
c.5518G>C (p.Glu1840Gln)
c.5335G>C (p.Glu1779Gln)
c.5299G>C (p.Glu1767Gln)
c.1313G>C
c.871G>C
c.2777G>C
n.2693G>C
c.4813G>C (p.Glu1605Gln)
c.5563G>C (p.Glu1855Gln)
c.5464G>C (p.Glu1822Gln)
c.5398G>C (p.Glu1800Gln)
c.5380G>C (p.Glu1794Gln)
c.5032G>C (p.Glu1678Gln)
c.4912G>C (p.Glu1638Gln)
c.*80G>C (n.*80G>C)
n.5154G>C
c.5539G>C (p.Glu1847Gln)
c.5476G>C (p.Glu1826Gln)
c.5467G>C (p.Glu1823Gln)
c.5077G>C (p.Glu1693Gln)
c.4936G>C (p.Glu1646Gln)
c.5368G>C (p.Glu1790Gln)
8g.41668362C>TCA4727324ANK1c.5422G>A (p.Glu1808Lys)
c.5518G>A (p.Glu1840Lys)
c.5335G>A (p.Glu1779Lys)
c.5299G>A (p.Glu1767Lys)
c.1313G>A
c.871G>A
c.2777G>A
n.2693G>A
c.4813G>A (p.Glu1605Lys)
c.5563G>A (p.Glu1855Lys)
c.5464G>A (p.Glu1822Lys)
c.5398G>A (p.Glu1800Lys)
c.5380G>A (p.Glu1794Lys)
c.5032G>A (p.Glu1678Lys)
c.4912G>A (p.Glu1638Lys)
c.*80G>A (n.*80G>A)
n.5154G>A
c.5539G>A (p.Glu1847Lys)
c.5476G>A (p.Glu1826Lys)
c.5467G>A (p.Glu1823Lys)
c.5077G>A (p.Glu1693Lys)
c.4936G>A (p.Glu1646Lys)
c.5368G>A (p.Glu1790Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41668363G>ACA175914267ANK1c.5421C>T (p.Pro1807=)
c.5517C>T (p.Pro1839=)
c.5334C>T (p.Pro1778=)
c.5298C>T (p.Pro1766=)
c.1312C>T
c.870C>T
c.2776C>T
n.2692C>T
c.4812C>T (p.Pro1604=)
c.5562C>T (p.Pro1854=)
c.5463C>T (p.Pro1821=)
c.5397C>T (p.Pro1799=)
c.5379C>T (p.Pro1793=)
c.5031C>T (p.Pro1677=)
c.4911C>T (p.Pro1637=)
c.*79C>T (n.*79C>T)
n.5153C>T
c.5538C>T (p.Pro1846=)
c.5475C>T (p.Pro1825=)
c.5466C>T (p.Pro1822=)
c.5076C>T (p.Pro1692=)
c.4935C>T (p.Pro1645=)
c.5367C>T (p.Pro1789=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.41668363G>CCA460782023ANK1c.5421C>G (p.Pro1807=)
c.5517C>G (p.Pro1839=)
c.5334C>G (p.Pro1778=)
c.5298C>G (p.Pro1766=)
c.1312C>G
c.870C>G
c.2776C>G
n.2692C>G
c.4812C>G (p.Pro1604=)
c.5562C>G (p.Pro1854=)
c.5463C>G (p.Pro1821=)
c.5397C>G (p.Pro1799=)
c.5379C>G (p.Pro1793=)
c.5031C>G (p.Pro1677=)
c.4911C>G (p.Pro1637=)
c.*79C>G (n.*79C>G)
n.5153C>G
c.5538C>G (p.Pro1846=)
c.5475C>G (p.Pro1825=)
c.5466C>G (p.Pro1822=)
c.5076C>G (p.Pro1692=)
c.4935C>G (p.Pro1645=)
c.5367C>G (p.Pro1789=)
8g.41668363G=CA1779071087ANK1c.5421C= (p.Pro1807=)
c.5517C= (p.Pro1839=)
c.5334C= (p.Pro1778=)
c.5298C= (p.Pro1766=)
c.1312C=
c.870C=
c.2776C=
n.2692C=
c.4812C= (p.Pro1604=)
c.5562C= (p.Pro1854=)
c.5463C= (p.Pro1821=)
c.5397C= (p.Pro1799=)
c.5379C= (p.Pro1793=)
c.5031C= (p.Pro1677=)
c.4911C= (p.Pro1637=)
c.*79C= (n.*79C=)
n.5153C=
c.5538C= (p.Pro1846=)
c.5475C= (p.Pro1825=)
c.5466C= (p.Pro1822=)
c.5076C= (p.Pro1692=)
c.4935C= (p.Pro1645=)
c.5367C= (p.Pro1789=)
8g.41668363G>TCA460782022ANK1c.5421C>A (p.Pro1807=)
c.5517C>A (p.Pro1839=)
c.5334C>A (p.Pro1778=)
c.5298C>A (p.Pro1766=)
c.1312C>A
c.870C>A
c.2776C>A
n.2692C>A
c.4812C>A (p.Pro1604=)
c.5562C>A (p.Pro1854=)
c.5463C>A (p.Pro1821=)
c.5397C>A (p.Pro1799=)
c.5379C>A (p.Pro1793=)
c.5031C>A (p.Pro1677=)
c.4911C>A (p.Pro1637=)
c.*79C>A (n.*79C>A)
n.5153C>A
c.5538C>A (p.Pro1846=)
c.5475C>A (p.Pro1825=)
c.5466C>A (p.Pro1822=)
c.5076C>A (p.Pro1692=)
c.4935C>A (p.Pro1645=)
c.5367C>A (p.Pro1789=)
8g.41668365delCA2739279681ANK1c.5421del (p.Glu1808ArgfsTer?)
c.5517del (p.Glu1840ArgfsTer?)
c.5334del (p.Glu1779ArgfsTer?)
c.5298del (p.Glu1767ArgfsTer?)
c.1312del
c.870del
c.2776del
n.2692del
c.4812del (p.Glu1605ArgfsTer?)
c.5562del (p.Glu1855ArgfsTer?)
c.5463del (p.Glu1822ArgfsTer?)
c.5397del (p.Glu1800ArgfsTer?)
c.5379del (p.Glu1794ArgfsTer?)
c.5031del (p.Glu1678ArgfsTer?)
c.4911del (p.Glu1638ArgfsTer?)
c.*79del (n.*79del)
n.5153del
c.5538del (p.Glu1847ArgfsTer?)
c.5475del (p.Glu1826ArgfsTer?)
c.5466del (p.Glu1823ArgfsTer?)
c.5076del (p.Glu1693ArgfsTer?)
c.4935del (p.Glu1646ArgfsTer?)
c.5367del (p.Glu1790ArgfsTer?)
 ClinVar
8g.41668364G>ACA371051330ANK1c.5420C>T (p.Pro1807Leu)
c.5516C>T (p.Pro1839Leu)
c.5333C>T (p.Pro1778Leu)
c.5297C>T (p.Pro1766Leu)
c.1311C>T
c.869C>T
c.2775C>T
n.2691C>T
c.4811C>T (p.Pro1604Leu)
c.5561C>T (p.Pro1854Leu)
c.5462C>T (p.Pro1821Leu)
c.5396C>T (p.Pro1799Leu)
c.5378C>T (p.Pro1793Leu)
c.5030C>T (p.Pro1677Leu)
c.4910C>T (p.Pro1637Leu)
c.*78C>T (n.*78C>T)
n.5152C>T
c.5537C>T (p.Pro1846Leu)
c.5474C>T (p.Pro1825Leu)
c.5465C>T (p.Pro1822Leu)
c.5075C>T (p.Pro1692Leu)
c.4934C>T (p.Pro1645Leu)
c.5366C>T (p.Pro1789Leu)
8g.41668364G>CCA371051331ANK1c.5420C>G (p.Pro1807Arg)
c.5516C>G (p.Pro1839Arg)
c.5333C>G (p.Pro1778Arg)
c.5297C>G (p.Pro1766Arg)
c.1311C>G
c.869C>G
c.2775C>G
n.2691C>G
c.4811C>G (p.Pro1604Arg)
c.5561C>G (p.Pro1854Arg)
c.5462C>G (p.Pro1821Arg)
c.5396C>G (p.Pro1799Arg)
c.5378C>G (p.Pro1793Arg)
c.5030C>G (p.Pro1677Arg)
c.4910C>G (p.Pro1637Arg)
c.*78C>G (n.*78C>G)
n.5152C>G
c.5537C>G (p.Pro1846Arg)
c.5474C>G (p.Pro1825Arg)
c.5465C>G (p.Pro1822Arg)
c.5075C>G (p.Pro1692Arg)
c.4934C>G (p.Pro1645Arg)
c.5366C>G (p.Pro1789Arg)
8g.41668364G>TCA371051332ANK1c.5420C>A (p.Pro1807His)
c.5516C>A (p.Pro1839His)
c.5333C>A (p.Pro1778His)
c.5297C>A (p.Pro1766His)
c.1311C>A
c.869C>A
c.2775C>A
n.2691C>A
c.4811C>A (p.Pro1604His)
c.5561C>A (p.Pro1854His)
c.5462C>A (p.Pro1821His)
c.5396C>A (p.Pro1799His)
c.5378C>A (p.Pro1793His)
c.5030C>A (p.Pro1677His)
c.4910C>A (p.Pro1637His)
c.*78C>A (n.*78C>A)
n.5152C>A
c.5537C>A (p.Pro1846His)
c.5474C>A (p.Pro1825His)
c.5465C>A (p.Pro1822His)
c.5075C>A (p.Pro1692His)
c.4934C>A (p.Pro1645His)
c.5366C>A (p.Pro1789His)
8g.41668365G>ACA371051335ANK1c.5419C>T (p.Pro1807Ser)
c.5515C>T (p.Pro1839Ser)
c.5332C>T (p.Pro1778Ser)
c.5296C>T (p.Pro1766Ser)
c.1310C>T
c.868C>T
c.2774C>T
n.2690C>T
c.4810C>T (p.Pro1604Ser)
c.5560C>T (p.Pro1854Ser)
c.5461C>T (p.Pro1821Ser)
c.5395C>T (p.Pro1799Ser)
c.5377C>T (p.Pro1793Ser)
c.5029C>T (p.Pro1677Ser)
c.4909C>T (p.Pro1637Ser)
c.*77C>T (n.*77C>T)
n.5151C>T
c.5536C>T (p.Pro1846Ser)
c.5473C>T (p.Pro1825Ser)
c.5464C>T (p.Pro1822Ser)
c.5074C>T (p.Pro1692Ser)
c.4933C>T (p.Pro1645Ser)
c.5365C>T (p.Pro1789Ser)
8g.41668365G>CCA371051333ANK1c.5419C>G (p.Pro1807Ala)
c.5515C>G (p.Pro1839Ala)
c.5332C>G (p.Pro1778Ala)
c.5296C>G (p.Pro1766Ala)
c.1310C>G
c.868C>G
c.2774C>G
n.2690C>G
c.4810C>G (p.Pro1604Ala)
c.5560C>G (p.Pro1854Ala)
c.5461C>G (p.Pro1821Ala)
c.5395C>G (p.Pro1799Ala)
c.5377C>G (p.Pro1793Ala)
c.5029C>G (p.Pro1677Ala)
c.4909C>G (p.Pro1637Ala)
c.*77C>G (n.*77C>G)
n.5151C>G
c.5536C>G (p.Pro1846Ala)
c.5473C>G (p.Pro1825Ala)
c.5464C>G (p.Pro1822Ala)
c.5074C>G (p.Pro1692Ala)
c.4933C>G (p.Pro1645Ala)
c.5365C>G (p.Pro1789Ala)
8g.41668365G>TCA371051334ANK1c.5419C>A (p.Pro1807Thr)
c.5515C>A (p.Pro1839Thr)
c.5332C>A (p.Pro1778Thr)
c.5296C>A (p.Pro1766Thr)
c.1310C>A
c.868C>A
c.2774C>A
n.2690C>A
c.4810C>A (p.Pro1604Thr)
c.5560C>A (p.Pro1854Thr)
c.5461C>A (p.Pro1821Thr)
c.5395C>A (p.Pro1799Thr)
c.5377C>A (p.Pro1793Thr)
c.5029C>A (p.Pro1677Thr)
c.4909C>A (p.Pro1637Thr)
c.*77C>A (n.*77C>A)
n.5151C>A
c.5536C>A (p.Pro1846Thr)
c.5473C>A (p.Pro1825Thr)
c.5464C>A (p.Pro1822Thr)
c.5074C>A (p.Pro1692Thr)
c.4933C>A (p.Pro1645Thr)
c.5365C>A (p.Pro1789Thr)
8g.41668366C>ACA371051336ANK1c.5418G>T (p.Gln1806His)
c.5514G>T (p.Gln1838His)
c.5331G>T (p.Gln1777His)
c.5295G>T (p.Gln1765His)
c.1309G>T
c.867G>T
c.2773G>T
n.2689G>T
c.4809G>T (p.Gln1603His)
c.5559G>T (p.Gln1853His)
c.5460G>T (p.Gln1820His)
c.5394G>T (p.Gln1798His)
c.5376G>T (p.Gln1792His)
c.5028G>T (p.Gln1676His)
c.4908G>T (p.Gln1636His)
c.*76G>T (n.*76G>T)
n.5150G>T
c.5535G>T (p.Gln1845His)
c.5472G>T (p.Gln1824His)
c.5463G>T (p.Gln1821His)
c.5073G>T (p.Gln1691His)
c.4932G>T (p.Gln1644His)
c.5364G>T (p.Gln1788His)
8g.41668366C>GCA371051337ANK1c.5418G>C (p.Gln1806His)
c.5514G>C (p.Gln1838His)
c.5331G>C (p.Gln1777His)
c.5295G>C (p.Gln1765His)
c.1309G>C
c.867G>C
c.2773G>C
n.2689G>C
c.4809G>C (p.Gln1603His)
c.5559G>C (p.Gln1853His)
c.5460G>C (p.Gln1820His)
c.5394G>C (p.Gln1798His)
c.5376G>C (p.Gln1792His)
c.5028G>C (p.Gln1676His)
c.4908G>C (p.Gln1636His)
c.*76G>C (n.*76G>C)
n.5150G>C
c.5535G>C (p.Gln1845His)
c.5472G>C (p.Gln1824His)
c.5463G>C (p.Gln1821His)
c.5073G>C (p.Gln1691His)
c.4932G>C (p.Gln1644His)
c.5364G>C (p.Gln1788His)
8g.41668366C>TCA460782024ANK1c.5418G>A (p.Gln1806=)
c.5514G>A (p.Gln1838=)
c.5331G>A (p.Gln1777=)
c.5295G>A (p.Gln1765=)
c.1309G>A
c.867G>A
c.2773G>A
n.2689G>A
c.4809G>A (p.Gln1603=)
c.5559G>A (p.Gln1853=)
c.5460G>A (p.Gln1820=)
c.5394G>A (p.Gln1798=)
c.5376G>A (p.Gln1792=)
c.5028G>A (p.Gln1676=)
c.4908G>A (p.Gln1636=)
c.*76G>A (n.*76G>A)
n.5150G>A
c.5535G>A (p.Gln1845=)
c.5472G>A (p.Gln1824=)
c.5463G>A (p.Gln1821=)
c.5073G>A (p.Gln1691=)
c.4932G>A (p.Gln1644=)
c.5364G>A (p.Gln1788=)
 gnomAD v4
8g.41668367T>ACA371051338ANK1c.5417A>T (p.Gln1806Leu)
c.5513A>T (p.Gln1838Leu)
c.5330A>T (p.Gln1777Leu)
c.5294A>T (p.Gln1765Leu)
c.1308A>T
c.866A>T
c.2772A>T
n.2688A>T
c.4808A>T (p.Gln1603Leu)
c.5558A>T (p.Gln1853Leu)
c.5459A>T (p.Gln1820Leu)
c.5393A>T (p.Gln1798Leu)
c.5375A>T (p.Gln1792Leu)
c.5027A>T (p.Gln1676Leu)
c.4907A>T (p.Gln1636Leu)
c.*75A>T (n.*75A>T)
n.5149A>T
c.5534A>T (p.Gln1845Leu)
c.5471A>T (p.Gln1824Leu)
c.5462A>T (p.Gln1821Leu)
c.5072A>T (p.Gln1691Leu)
c.4931A>T (p.Gln1644Leu)
c.5363A>T (p.Gln1788Leu)
8g.41668367T>CCA4727325ANK1c.5417A>G (p.Gln1806Arg)
c.5513A>G (p.Gln1838Arg)
c.5330A>G (p.Gln1777Arg)
c.5294A>G (p.Gln1765Arg)
c.1308A>G
c.866A>G
c.2772A>G
n.2688A>G
c.4808A>G (p.Gln1603Arg)
c.5558A>G (p.Gln1853Arg)
c.5459A>G (p.Gln1820Arg)
c.5393A>G (p.Gln1798Arg)
c.5375A>G (p.Gln1792Arg)
c.5027A>G (p.Gln1676Arg)
c.4907A>G (p.Gln1636Arg)
c.*75A>G (n.*75A>G)
n.5149A>G
c.5534A>G (p.Gln1845Arg)
c.5471A>G (p.Gln1824Arg)
c.5462A>G (p.Gln1821Arg)
c.5072A>G (p.Gln1691Arg)
c.4931A>G (p.Gln1644Arg)
c.5363A>G (p.Gln1788Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41668367T>GCA371051339ANK1c.5417A>C (p.Gln1806Pro)
c.5513A>C (p.Gln1838Pro)
c.5330A>C (p.Gln1777Pro)
c.5294A>C (p.Gln1765Pro)
c.1308A>C
c.866A>C
c.2772A>C
n.2688A>C
c.4808A>C (p.Gln1603Pro)
c.5558A>C (p.Gln1853Pro)
c.5459A>C (p.Gln1820Pro)
c.5393A>C (p.Gln1798Pro)
c.5375A>C (p.Gln1792Pro)
c.5027A>C (p.Gln1676Pro)
c.4907A>C (p.Gln1636Pro)
c.*75A>C (n.*75A>C)
n.5149A>C
c.5534A>C (p.Gln1845Pro)
c.5471A>C (p.Gln1824Pro)
c.5462A>C (p.Gln1821Pro)
c.5072A>C (p.Gln1691Pro)
c.4931A>C (p.Gln1644Pro)
c.5363A>C (p.Gln1788Pro)
8g.41668367T=CA1779071089ANK1c.5417A= (p.Gln1806=)
c.5513A= (p.Gln1838=)
c.5330A= (p.Gln1777=)
c.5294A= (p.Gln1765=)
c.1308A=
c.866A=
c.2772A=
n.2688A=
c.4808A= (p.Gln1603=)
c.5558A= (p.Gln1853=)
c.5459A= (p.Gln1820=)
c.5393A= (p.Gln1798=)
c.5375A= (p.Gln1792=)
c.5027A= (p.Gln1676=)
c.4907A= (p.Gln1636=)
c.*75A= (n.*75A=)
n.5149A=
c.5534A= (p.Gln1845=)
c.5471A= (p.Gln1824=)
c.5462A= (p.Gln1821=)
c.5072A= (p.Gln1691=)
c.4931A= (p.Gln1644=)
c.5363A= (p.Gln1788=)
8g.41668368G>ACA371051340ANK1c.5416C>T (p.Gln1806Ter)
c.5512C>T (p.Gln1838Ter)
c.5329C>T (p.Gln1777Ter)
c.5293C>T (p.Gln1765Ter)
c.1307C>T
c.865C>T
c.2771C>T
n.2687C>T
c.4807C>T (p.Gln1603Ter)
c.5557C>T (p.Gln1853Ter)
c.5458C>T (p.Gln1820Ter)
c.5392C>T (p.Gln1798Ter)
c.5374C>T (p.Gln1792Ter)
c.5026C>T (p.Gln1676Ter)
c.4906C>T (p.Gln1636Ter)
c.*74C>T (n.*74C>T)
n.5148C>T
c.5533C>T (p.Gln1845Ter)
c.5470C>T (p.Gln1824Ter)
c.5461C>T (p.Gln1821Ter)
c.5071C>T (p.Gln1691Ter)
c.4930C>T (p.Gln1644Ter)
c.5362C>T (p.Gln1788Ter)
8g.41668368G>CCA371051341ANK1c.5416C>G (p.Gln1806Glu)
c.5512C>G (p.Gln1838Glu)
c.5329C>G (p.Gln1777Glu)
c.5293C>G (p.Gln1765Glu)
c.1307C>G
c.865C>G
c.2771C>G
n.2687C>G
c.4807C>G (p.Gln1603Glu)
c.5557C>G (p.Gln1853Glu)
c.5458C>G (p.Gln1820Glu)
c.5392C>G (p.Gln1798Glu)
c.5374C>G (p.Gln1792Glu)
c.5026C>G (p.Gln1676Glu)
c.4906C>G (p.Gln1636Glu)
c.*74C>G (n.*74C>G)
n.5148C>G
c.5533C>G (p.Gln1845Glu)
c.5470C>G (p.Gln1824Glu)
c.5461C>G (p.Gln1821Glu)
c.5071C>G (p.Gln1691Glu)
c.4930C>G (p.Gln1644Glu)
c.5362C>G (p.Gln1788Glu)
 gnomAD v4
8g.41668368G>TCA371051342ANK1c.5416C>A (p.Gln1806Lys)
c.5512C>A (p.Gln1838Lys)
c.5329C>A (p.Gln1777Lys)
c.5293C>A (p.Gln1765Lys)
c.1307C>A
c.865C>A
c.2771C>A
n.2687C>A
c.4807C>A (p.Gln1603Lys)
c.5557C>A (p.Gln1853Lys)
c.5458C>A (p.Gln1820Lys)
c.5392C>A (p.Gln1798Lys)
c.5374C>A (p.Gln1792Lys)
c.5026C>A (p.Gln1676Lys)
c.4906C>A (p.Gln1636Lys)
c.*74C>A (n.*74C>A)
n.5148C>A
c.5533C>A (p.Gln1845Lys)
c.5470C>A (p.Gln1824Lys)
c.5461C>A (p.Gln1821Lys)
c.5071C>A (p.Gln1691Lys)
c.4930C>A (p.Gln1644Lys)
c.5362C>A (p.Gln1788Lys)
8g.41668369T>ACA371051343ANK1c.5415A>T (p.Glu1805Asp)
c.5511A>T (p.Glu1837Asp)
c.5328A>T (p.Glu1776Asp)
c.5292A>T (p.Glu1764Asp)
c.1306A>T
c.864A>T
c.2770A>T
n.2686A>T
c.4806A>T (p.Glu1602Asp)
c.5556A>T (p.Glu1852Asp)
c.5457A>T (p.Glu1819Asp)
c.5391A>T (p.Glu1797Asp)
c.5373A>T (p.Glu1791Asp)
c.5025A>T (p.Glu1675Asp)
c.4905A>T (p.Glu1635Asp)
c.*73A>T (n.*73A>T)
n.5147A>T
c.5532A>T (p.Glu1844Asp)
c.5469A>T (p.Glu1823Asp)
c.5460A>T (p.Glu1820Asp)
c.5070A>T (p.Glu1690Asp)
c.4929A>T (p.Glu1643Asp)
c.5361A>T (p.Glu1787Asp)
8g.41668369T>CCA460782025ANK1c.5415A>G (p.Glu1805=)
c.5511A>G (p.Glu1837=)
c.5328A>G (p.Glu1776=)
c.5292A>G (p.Glu1764=)
c.1306A>G
c.864A>G
c.2770A>G
n.2686A>G
c.4806A>G (p.Glu1602=)
c.5556A>G (p.Glu1852=)
c.5457A>G (p.Glu1819=)
c.5391A>G (p.Glu1797=)
c.5373A>G (p.Glu1791=)
c.5025A>G (p.Glu1675=)
c.4905A>G (p.Glu1635=)
c.*73A>G (n.*73A>G)
n.5147A>G
c.5532A>G (p.Glu1844=)
c.5469A>G (p.Glu1823=)
c.5460A>G (p.Glu1820=)
c.5070A>G (p.Glu1690=)
c.4929A>G (p.Glu1643=)
c.5361A>G (p.Glu1787=)
8g.41668369T>GCA371051344ANK1c.5415A>C (p.Glu1805Asp)
c.5511A>C (p.Glu1837Asp)
c.5328A>C (p.Glu1776Asp)
c.5292A>C (p.Glu1764Asp)
c.1306A>C
c.864A>C
c.2770A>C
n.2686A>C
c.4806A>C (p.Glu1602Asp)
c.5556A>C (p.Glu1852Asp)
c.5457A>C (p.Glu1819Asp)
c.5391A>C (p.Glu1797Asp)
c.5373A>C (p.Glu1791Asp)
c.5025A>C (p.Glu1675Asp)
c.4905A>C (p.Glu1635Asp)
c.*73A>C (n.*73A>C)
n.5147A>C
c.5532A>C (p.Glu1844Asp)
c.5469A>C (p.Glu1823Asp)
c.5460A>C (p.Glu1820Asp)
c.5070A>C (p.Glu1690Asp)
c.4929A>C (p.Glu1643Asp)
c.5361A>C (p.Glu1787Asp)
8g.41668370T>ACA371051346ANK1c.5414A>T (p.Glu1805Val)
c.5510A>T (p.Glu1837Val)
c.5327A>T (p.Glu1776Val)
c.5291A>T (p.Glu1764Val)
c.1305A>T
c.863A>T
c.2769A>T
n.2685A>T
c.4805A>T (p.Glu1602Val)
c.5555A>T (p.Glu1852Val)
c.5456A>T (p.Glu1819Val)
c.5390A>T (p.Glu1797Val)
c.5372A>T (p.Glu1791Val)
c.5024A>T (p.Glu1675Val)
c.4904A>T (p.Glu1635Val)
c.*72A>T (n.*72A>T)
n.5146A>T
c.5531A>T (p.Glu1844Val)
c.5468A>T (p.Glu1823Val)
c.5459A>T (p.Glu1820Val)
c.5069A>T (p.Glu1690Val)
c.4928A>T (p.Glu1643Val)
c.5360A>T (p.Glu1787Val)
8g.41668370T>CCA371051345ANK1c.5414A>G (p.Glu1805Gly)
c.5510A>G (p.Glu1837Gly)
c.5327A>G (p.Glu1776Gly)
c.5291A>G (p.Glu1764Gly)
c.1305A>G
c.863A>G
c.2769A>G
n.2685A>G
c.4805A>G (p.Glu1602Gly)
c.5555A>G (p.Glu1852Gly)
c.5456A>G (p.Glu1819Gly)
c.5390A>G (p.Glu1797Gly)
c.5372A>G (p.Glu1791Gly)
c.5024A>G (p.Glu1675Gly)
c.4904A>G (p.Glu1635Gly)
c.*72A>G (n.*72A>G)
n.5146A>G
c.5531A>G (p.Glu1844Gly)
c.5468A>G (p.Glu1823Gly)
c.5459A>G (p.Glu1820Gly)
c.5069A>G (p.Glu1690Gly)
c.4928A>G (p.Glu1643Gly)
c.5360A>G (p.Glu1787Gly)
8g.41668370T>GCA4727326ANK1c.5414A>C (p.Glu1805Ala)
c.5510A>C (p.Glu1837Ala)
c.5327A>C (p.Glu1776Ala)
c.5291A>C (p.Glu1764Ala)
c.1305A>C
c.863A>C
c.2769A>C
n.2685A>C
c.4805A>C (p.Glu1602Ala)
c.5555A>C (p.Glu1852Ala)
c.5456A>C (p.Glu1819Ala)
c.5390A>C (p.Glu1797Ala)
c.5372A>C (p.Glu1791Ala)
c.5024A>C (p.Glu1675Ala)
c.4904A>C (p.Glu1635Ala)
c.*72A>C (n.*72A>C)
n.5146A>C
c.5531A>C (p.Glu1844Ala)
c.5468A>C (p.Glu1823Ala)
c.5459A>C (p.Glu1820Ala)
c.5069A>C (p.Glu1690Ala)
c.4928A>C (p.Glu1643Ala)
c.5360A>C (p.Glu1787Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.41668370T=CA1779071091ANK1c.5414A= (p.Glu1805=)
c.5510A= (p.Glu1837=)
c.5327A= (p.Glu1776=)
c.5291A= (p.Glu1764=)
c.1305A=
c.863A=
c.2769A=
n.2685A=
c.4805A= (p.Glu1602=)
c.5555A= (p.Glu1852=)
c.5456A= (p.Glu1819=)
c.5390A= (p.Glu1797=)
c.5372A= (p.Glu1791=)
c.5024A= (p.Glu1675=)
c.4904A= (p.Glu1635=)
c.*72A= (n.*72A=)
n.5146A=
c.5531A= (p.Glu1844=)
c.5468A= (p.Glu1823=)
c.5459A= (p.Glu1820=)
c.5069A= (p.Glu1690=)
c.4928A= (p.Glu1643=)
c.5360A= (p.Glu1787=)
8g.41668371C>ACA371051347ANK1c.5413G>T (p.Glu1805Ter)
c.5509G>T (p.Glu1837Ter)
c.5326G>T (p.Glu1776Ter)
c.5290G>T (p.Glu1764Ter)
c.1304G>T
c.862G>T
c.2768G>T
n.2684G>T
c.4804G>T (p.Glu1602Ter)
c.5554G>T (p.Glu1852Ter)
c.5455G>T (p.Glu1819Ter)
c.5389G>T (p.Glu1797Ter)
c.5371G>T (p.Glu1791Ter)
c.5023G>T (p.Glu1675Ter)
c.4903G>T (p.Glu1635Ter)
c.*71G>T (n.*71G>T)
n.5145G>T
c.5530G>T (p.Glu1844Ter)
c.5467G>T (p.Glu1823Ter)
c.5458G>T (p.Glu1820Ter)
c.5068G>T (p.Glu1690Ter)
c.4927G>T (p.Glu1643Ter)
c.5359G>T (p.Glu1787Ter)
8g.41668371C>GCA371051348ANK1c.5413G>C (p.Glu1805Gln)
c.5509G>C (p.Glu1837Gln)
c.5326G>C (p.Glu1776Gln)
c.5290G>C (p.Glu1764Gln)
c.1304G>C
c.862G>C
c.2768G>C
n.2684G>C
c.4804G>C (p.Glu1602Gln)
c.5554G>C (p.Glu1852Gln)
c.5455G>C (p.Glu1819Gln)
c.5389G>C (p.Glu1797Gln)
c.5371G>C (p.Glu1791Gln)
c.5023G>C (p.Glu1675Gln)
c.4903G>C (p.Glu1635Gln)
c.*71G>C (n.*71G>C)
n.5145G>C
c.5530G>C (p.Glu1844Gln)
c.5467G>C (p.Glu1823Gln)
c.5458G>C (p.Glu1820Gln)
c.5068G>C (p.Glu1690Gln)
c.4927G>C (p.Glu1643Gln)
c.5359G>C (p.Glu1787Gln)
 gnomAD v4
8g.41668371C>TCA371051349ANK1c.5413G>A (p.Glu1805Lys)
c.5509G>A (p.Glu1837Lys)
c.5326G>A (p.Glu1776Lys)
c.5290G>A (p.Glu1764Lys)
c.1304G>A
c.862G>A
c.2768G>A
n.2684G>A
c.4804G>A (p.Glu1602Lys)
c.5554G>A (p.Glu1852Lys)
c.5455G>A (p.Glu1819Lys)
c.5389G>A (p.Glu1797Lys)
c.5371G>A (p.Glu1791Lys)
c.5023G>A (p.Glu1675Lys)
c.4903G>A (p.Glu1635Lys)
c.*71G>A (n.*71G>A)
n.5145G>A
c.5530G>A (p.Glu1844Lys)
c.5467G>A (p.Glu1823Lys)
c.5458G>A (p.Glu1820Lys)
c.5068G>A (p.Glu1690Lys)
c.4927G>A (p.Glu1643Lys)
c.5359G>A (p.Glu1787Lys)
 gnomAD v4
8g.41668372T>ACA460782026ANK1c.5412A>T (p.Thr1804=)
c.5508A>T (p.Thr1836=)
c.5325A>T (p.Thr1775=)
c.5289A>T (p.Thr1763=)
c.1303A>T
c.861A>T
c.2767A>T
n.2683A>T
c.4803A>T (p.Thr1601=)
c.5553A>T (p.Thr1851=)
c.5454A>T (p.Thr1818=)
c.5388A>T (p.Thr1796=)
c.5370A>T (p.Thr1790=)
c.5022A>T (p.Thr1674=)
c.4902A>T (p.Thr1634=)
c.*70A>T (n.*70A>T)
n.5144A>T
c.5529A>T (p.Thr1843=)
c.5466A>T (p.Thr1822=)
c.5457A>T (p.Thr1819=)
c.5067A>T (p.Thr1689=)
c.4926A>T (p.Thr1642=)
c.5358A>T (p.Thr1786=)
8g.41668372T>CCA4727327ANK1c.5412A>G (p.Thr1804=)
c.5508A>G (p.Thr1836=)
c.5325A>G (p.Thr1775=)
c.5289A>G (p.Thr1763=)
c.1303A>G
c.861A>G
c.2767A>G
n.2683A>G
c.4803A>G (p.Thr1601=)
c.5553A>G (p.Thr1851=)
c.5454A>G (p.Thr1818=)
c.5388A>G (p.Thr1796=)
c.5370A>G (p.Thr1790=)
c.5022A>G (p.Thr1674=)
c.4902A>G (p.Thr1634=)
c.*70A>G (n.*70A>G)
n.5144A>G
c.5529A>G (p.Thr1843=)
c.5466A>G (p.Thr1822=)
c.5457A>G (p.Thr1819=)
c.5067A>G (p.Thr1689=)
c.4926A>G (p.Thr1642=)
c.5358A>G (p.Thr1786=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41668372T>GCA460782027ANK1c.5412A>C (p.Thr1804=)
c.5508A>C (p.Thr1836=)
c.5325A>C (p.Thr1775=)
c.5289A>C (p.Thr1763=)
c.1303A>C
c.861A>C
c.2767A>C
n.2683A>C
c.4803A>C (p.Thr1601=)
c.5553A>C (p.Thr1851=)
c.5454A>C (p.Thr1818=)
c.5388A>C (p.Thr1796=)
c.5370A>C (p.Thr1790=)
c.5022A>C (p.Thr1674=)
c.4902A>C (p.Thr1634=)
c.*70A>C (n.*70A>C)
n.5144A>C
c.5529A>C (p.Thr1843=)
c.5466A>C (p.Thr1822=)
c.5457A>C (p.Thr1819=)
c.5067A>C (p.Thr1689=)
c.4926A>C (p.Thr1642=)
c.5358A>C (p.Thr1786=)
8g.41668372T=CA1779071095ANK1c.5412A= (p.Thr1804=)
c.5508A= (p.Thr1836=)
c.5325A= (p.Thr1775=)
c.5289A= (p.Thr1763=)
c.1303A=
c.861A=
c.2767A=
n.2683A=
c.4803A= (p.Thr1601=)
c.5553A= (p.Thr1851=)
c.5454A= (p.Thr1818=)
c.5388A= (p.Thr1796=)
c.5370A= (p.Thr1790=)
c.5022A= (p.Thr1674=)
c.4902A= (p.Thr1634=)
c.*70A= (n.*70A=)
n.5144A=
c.5529A= (p.Thr1843=)
c.5466A= (p.Thr1822=)
c.5457A= (p.Thr1819=)
c.5067A= (p.Thr1689=)
c.4926A= (p.Thr1642=)
c.5358A= (p.Thr1786=)
8g.41668373G>ACA371051350ANK1c.5411C>T (p.Thr1804Ile)
c.5507C>T (p.Thr1836Ile)
c.5324C>T (p.Thr1775Ile)
c.5288C>T (p.Thr1763Ile)
c.1302C>T
c.860C>T
c.2766C>T
n.2682C>T
c.4802C>T (p.Thr1601Ile)
c.5552C>T (p.Thr1851Ile)
c.5453C>T (p.Thr1818Ile)
c.5387C>T (p.Thr1796Ile)
c.5369C>T (p.Thr1790Ile)
c.5021C>T (p.Thr1674Ile)
c.4901C>T (p.Thr1634Ile)
c.*69C>T (n.*69C>T)
n.5143C>T
c.5528C>T (p.Thr1843Ile)
c.5465C>T (p.Thr1822Ile)
c.5456C>T (p.Thr1819Ile)
c.5066C>T (p.Thr1689Ile)
c.4925C>T (p.Thr1642Ile)
c.5357C>T (p.Thr1786Ile)
8g.41668373G>CCA4727328ANK1c.5411C>G (p.Thr1804Arg)
c.5507C>G (p.Thr1836Arg)
c.5324C>G (p.Thr1775Arg)
c.5288C>G (p.Thr1763Arg)
c.1302C>G
c.860C>G
c.2766C>G
n.2682C>G
c.4802C>G (p.Thr1601Arg)
c.5552C>G (p.Thr1851Arg)
c.5453C>G (p.Thr1818Arg)
c.5387C>G (p.Thr1796Arg)
c.5369C>G (p.Thr1790Arg)
c.5021C>G (p.Thr1674Arg)
c.4901C>G (p.Thr1634Arg)
c.*69C>G (n.*69C>G)
n.5143C>G
c.5528C>G (p.Thr1843Arg)
c.5465C>G (p.Thr1822Arg)
c.5456C>G (p.Thr1819Arg)
c.5066C>G (p.Thr1689Arg)
c.4925C>G (p.Thr1642Arg)
c.5357C>G (p.Thr1786Arg)
 dbSNP ExAC gnomAD v3 gnomAD v4
8g.41668373G=CA1779071101ANK1c.5411C= (p.Thr1804=)
c.5507C= (p.Thr1836=)
c.5324C= (p.Thr1775=)
c.5288C= (p.Thr1763=)
c.1302C=
c.860C=
c.2766C=
n.2682C=
c.4802C= (p.Thr1601=)
c.5552C= (p.Thr1851=)
c.5453C= (p.Thr1818=)
c.5387C= (p.Thr1796=)
c.5369C= (p.Thr1790=)
c.5021C= (p.Thr1674=)
c.4901C= (p.Thr1634=)
c.*69C= (n.*69C=)
n.5143C=
c.5528C= (p.Thr1843=)
c.5465C= (p.Thr1822=)
c.5456C= (p.Thr1819=)
c.5066C= (p.Thr1689=)
c.4925C= (p.Thr1642=)
c.5357C= (p.Thr1786=)
8g.41668373G>TCA371051351ANK1c.5411C>A (p.Thr1804Lys)
c.5507C>A (p.Thr1836Lys)
c.5324C>A (p.Thr1775Lys)
c.5288C>A (p.Thr1763Lys)
c.1302C>A
c.860C>A
c.2766C>A
n.2682C>A
c.4802C>A (p.Thr1601Lys)
c.5552C>A (p.Thr1851Lys)
c.5453C>A (p.Thr1818Lys)
c.5387C>A (p.Thr1796Lys)
c.5369C>A (p.Thr1790Lys)
c.5021C>A (p.Thr1674Lys)
c.4901C>A (p.Thr1634Lys)
c.*69C>A (n.*69C>A)
n.5143C>A
c.5528C>A (p.Thr1843Lys)
c.5465C>A (p.Thr1822Lys)
c.5456C>A (p.Thr1819Lys)
c.5066C>A (p.Thr1689Lys)
c.4925C>A (p.Thr1642Lys)
c.5357C>A (p.Thr1786Lys)
 gnomAD v4
8g.41668374T>ACA371051352ANK1c.5410A>T (p.Thr1804Ser)
c.5506A>T (p.Thr1836Ser)
c.5323A>T (p.Thr1775Ser)
c.5287A>T (p.Thr1763Ser)
c.1301A>T
c.859A>T
c.2765A>T
n.2681A>T
c.4801A>T (p.Thr1601Ser)
c.5551A>T (p.Thr1851Ser)
c.5452A>T (p.Thr1818Ser)
c.5386A>T (p.Thr1796Ser)
c.5368A>T (p.Thr1790Ser)
c.5020A>T (p.Thr1674Ser)
c.4900A>T (p.Thr1634Ser)
c.*68A>T (n.*68A>T)
n.5142A>T
c.5527A>T (p.Thr1843Ser)
c.5464A>T (p.Thr1822Ser)
c.5455A>T (p.Thr1819Ser)
c.5065A>T (p.Thr1689Ser)
c.4924A>T (p.Thr1642Ser)
c.5356A>T (p.Thr1786Ser)
8g.41668374T>CCA371051353ANK1c.5410A>G (p.Thr1804Ala)
c.5506A>G (p.Thr1836Ala)
c.5323A>G (p.Thr1775Ala)
c.5287A>G (p.Thr1763Ala)
c.1301A>G
c.859A>G
c.2765A>G
n.2681A>G
c.4801A>G (p.Thr1601Ala)
c.5551A>G (p.Thr1851Ala)
c.5452A>G (p.Thr1818Ala)
c.5386A>G (p.Thr1796Ala)
c.5368A>G (p.Thr1790Ala)
c.5020A>G (p.Thr1674Ala)
c.4900A>G (p.Thr1634Ala)
c.*68A>G (n.*68A>G)
n.5142A>G
c.5527A>G (p.Thr1843Ala)
c.5464A>G (p.Thr1822Ala)
c.5455A>G (p.Thr1819Ala)
c.5065A>G (p.Thr1689Ala)
c.4924A>G (p.Thr1642Ala)
c.5356A>G (p.Thr1786Ala)
 dbSNP
8g.41668374T>GCA371051354ANK1c.5410A>C (p.Thr1804Pro)
c.5506A>C (p.Thr1836Pro)
c.5323A>C (p.Thr1775Pro)
c.5287A>C (p.Thr1763Pro)
c.1301A>C
c.859A>C
c.2765A>C
n.2681A>C
c.4801A>C (p.Thr1601Pro)
c.5551A>C (p.Thr1851Pro)
c.5452A>C (p.Thr1818Pro)
c.5386A>C (p.Thr1796Pro)
c.5368A>C (p.Thr1790Pro)
c.5020A>C (p.Thr1674Pro)
c.4900A>C (p.Thr1634Pro)
c.*68A>C (n.*68A>C)
n.5142A>C
c.5527A>C (p.Thr1843Pro)
c.5464A>C (p.Thr1822Pro)
c.5455A>C (p.Thr1819Pro)
c.5065A>C (p.Thr1689Pro)
c.4924A>C (p.Thr1642Pro)
c.5356A>C (p.Thr1786Pro)
8g.41668374T=CA1779071105ANK1c.5410A= (p.Thr1804=)
c.5506A= (p.Thr1836=)
c.5323A= (p.Thr1775=)
c.5287A= (p.Thr1763=)
c.1301A=
c.859A=
c.2765A=
n.2681A=
c.4801A= (p.Thr1601=)
c.5551A= (p.Thr1851=)
c.5452A= (p.Thr1818=)
c.5386A= (p.Thr1796=)
c.5368A= (p.Thr1790=)
c.5020A= (p.Thr1674=)
c.4900A= (p.Thr1634=)
c.*68A= (n.*68A=)
n.5142A=
c.5527A= (p.Thr1843=)
c.5464A= (p.Thr1822=)
c.5455A= (p.Thr1819=)
c.5065A= (p.Thr1689=)
c.4924A= (p.Thr1642=)
c.5356A= (p.Thr1786=)
8g.41668375C>ACA371051355ANK1c.5409G>T (p.Trp1803Cys)
c.5505G>T (p.Trp1835Cys)
c.5322G>T (p.Trp1774Cys)
c.5286G>T (p.Trp1762Cys)
c.1300G>T
c.858G>T
c.2764G>T
n.2680G>T
c.4800G>T (p.Trp1600Cys)
c.5550G>T (p.Trp1850Cys)
c.5451G>T (p.Trp1817Cys)
c.5385G>T (p.Trp1795Cys)
c.5367G>T (p.Trp1789Cys)
c.5019G>T (p.Trp1673Cys)
c.4899G>T (p.Trp1633Cys)
c.*67G>T (n.*67G>T)
n.5141G>T
c.5526G>T (p.Trp1842Cys)
c.5463G>T (p.Trp1821Cys)
c.5454G>T (p.Trp1818Cys)
c.5064G>T (p.Trp1688Cys)
c.4923G>T (p.Trp1641Cys)
c.5355G>T (p.Trp1785Cys)
 gnomAD v4
8g.41668375C=CA1779071109ANK1c.5409G= (p.Trp1803=)
c.5505G= (p.Trp1835=)
c.5322G= (p.Trp1774=)
c.5286G= (p.Trp1762=)
c.1300G=
c.858G=
c.2764G=
n.2680G=
c.4800G= (p.Trp1600=)
c.5550G= (p.Trp1850=)
c.5451G= (p.Trp1817=)
c.5385G= (p.Trp1795=)
c.5367G= (p.Trp1789=)
c.5019G= (p.Trp1673=)
c.4899G= (p.Trp1633=)
c.*67G= (n.*67G=)
n.5141G=
c.5526G= (p.Trp1842=)
c.5463G= (p.Trp1821=)
c.5454G= (p.Trp1818=)
c.5064G= (p.Trp1688=)
c.4923G= (p.Trp1641=)
c.5355G= (p.Trp1785=)
8g.41668375C>GCA175914278ANK1c.5409G>C (p.Trp1803Cys)
c.5505G>C (p.Trp1835Cys)
c.5322G>C (p.Trp1774Cys)
c.5286G>C (p.Trp1762Cys)
c.1300G>C
c.858G>C
c.2764G>C
n.2680G>C
c.4800G>C (p.Trp1600Cys)
c.5550G>C (p.Trp1850Cys)
c.5451G>C (p.Trp1817Cys)
c.5385G>C (p.Trp1795Cys)
c.5367G>C (p.Trp1789Cys)
c.5019G>C (p.Trp1673Cys)
c.4899G>C (p.Trp1633Cys)
c.*67G>C (n.*67G>C)
n.5141G>C
c.5526G>C (p.Trp1842Cys)
c.5463G>C (p.Trp1821Cys)
c.5454G>C (p.Trp1818Cys)
c.5064G>C (p.Trp1688Cys)
c.4923G>C (p.Trp1641Cys)
c.5355G>C (p.Trp1785Cys)
 dbSNP
8g.41668375C>TCA371051356ANK1c.5409G>A (p.Trp1803Ter)
c.5505G>A (p.Trp1835Ter)
c.5322G>A (p.Trp1774Ter)
c.5286G>A (p.Trp1762Ter)
c.1300G>A
c.858G>A
c.2764G>A
n.2680G>A
c.4800G>A (p.Trp1600Ter)
c.5550G>A (p.Trp1850Ter)
c.5451G>A (p.Trp1817Ter)
c.5385G>A (p.Trp1795Ter)
c.5367G>A (p.Trp1789Ter)
c.5019G>A (p.Trp1673Ter)
c.4899G>A (p.Trp1633Ter)
c.*67G>A (n.*67G>A)
n.5141G>A
c.5526G>A (p.Trp1842Ter)
c.5463G>A (p.Trp1821Ter)
c.5454G>A (p.Trp1818Ter)
c.5064G>A (p.Trp1688Ter)
c.4923G>A (p.Trp1641Ter)
c.5355G>A (p.Trp1785Ter)
8g.41668376C>ACA371051357ANK1c.5408G>T (p.Trp1803Leu)
c.5504G>T (p.Trp1835Leu)
c.5321G>T (p.Trp1774Leu)
c.5285G>T (p.Trp1762Leu)
c.1299G>T
c.857G>T
c.2763G>T
n.2679G>T
c.4799G>T (p.Trp1600Leu)
c.5549G>T (p.Trp1850Leu)
c.5450G>T (p.Trp1817Leu)
c.5384G>T (p.Trp1795Leu)
c.5366G>T (p.Trp1789Leu)
c.5018G>T (p.Trp1673Leu)
c.4898G>T (p.Trp1633Leu)
c.*66G>T (n.*66G>T)
n.5140G>T
c.5525G>T (p.Trp1842Leu)
c.5462G>T (p.Trp1821Leu)
c.5453G>T (p.Trp1818Leu)
c.5063G>T (p.Trp1688Leu)
c.4922G>T (p.Trp1641Leu)
c.5354G>T (p.Trp1785Leu)
8g.41668376C>GCA371051359ANK1c.5408G>C (p.Trp1803Ser)
c.5504G>C (p.Trp1835Ser)
c.5321G>C (p.Trp1774Ser)
c.5285G>C (p.Trp1762Ser)
c.1299G>C
c.857G>C
c.2763G>C
n.2679G>C
c.4799G>C (p.Trp1600Ser)
c.5549G>C (p.Trp1850Ser)
c.5450G>C (p.Trp1817Ser)
c.5384G>C (p.Trp1795Ser)
c.5366G>C (p.Trp1789Ser)
c.5018G>C (p.Trp1673Ser)
c.4898G>C (p.Trp1633Ser)
c.*66G>C (n.*66G>C)
n.5140G>C
c.5525G>C (p.Trp1842Ser)
c.5462G>C (p.Trp1821Ser)
c.5453G>C (p.Trp1818Ser)
c.5063G>C (p.Trp1688Ser)
c.4922G>C (p.Trp1641Ser)
c.5354G>C (p.Trp1785Ser)
8g.41668376C>TCA371051358ANK1c.5408G>A (p.Trp1803Ter)
c.5504G>A (p.Trp1835Ter)
c.5321G>A (p.Trp1774Ter)
c.5285G>A (p.Trp1762Ter)
c.1299G>A
c.857G>A
c.2763G>A
n.2679G>A
c.4799G>A (p.Trp1600Ter)
c.5549G>A (p.Trp1850Ter)
c.5450G>A (p.Trp1817Ter)
c.5384G>A (p.Trp1795Ter)
c.5366G>A (p.Trp1789Ter)
c.5018G>A (p.Trp1673Ter)
c.4898G>A (p.Trp1633Ter)
c.*66G>A (n.*66G>A)
n.5140G>A
c.5525G>A (p.Trp1842Ter)
c.5462G>A (p.Trp1821Ter)
c.5453G>A (p.Trp1818Ter)
c.5063G>A (p.Trp1688Ter)
c.4922G>A (p.Trp1641Ter)
c.5354G>A (p.Trp1785Ter)
 ClinVar
8g.41668377A>CCA371051360ANK1c.5407T>G (p.Trp1803Gly)
c.5503T>G (p.Trp1835Gly)
c.5320T>G (p.Trp1774Gly)
c.5284T>G (p.Trp1762Gly)
c.1298T>G
c.856T>G
c.2762T>G
n.2678T>G
c.4798T>G (p.Trp1600Gly)
c.5548T>G (p.Trp1850Gly)
c.5449T>G (p.Trp1817Gly)
c.5383T>G (p.Trp1795Gly)
c.5365T>G (p.Trp1789Gly)
c.5017T>G (p.Trp1673Gly)
c.4897T>G (p.Trp1633Gly)
c.*65T>G (n.*65T>G)
n.5139T>G
c.5524T>G (p.Trp1842Gly)
c.5461T>G (p.Trp1821Gly)
c.5452T>G (p.Trp1818Gly)
c.5062T>G (p.Trp1688Gly)
c.4921T>G (p.Trp1641Gly)
c.5353T>G (p.Trp1785Gly)
8g.41668377A>GCA371051361ANK1c.5407T>C (p.Trp1803Arg)
c.5503T>C (p.Trp1835Arg)
c.5320T>C (p.Trp1774Arg)
c.5284T>C (p.Trp1762Arg)
c.1298T>C
c.856T>C
c.2762T>C
n.2678T>C
c.4798T>C (p.Trp1600Arg)
c.5548T>C (p.Trp1850Arg)
c.5449T>C (p.Trp1817Arg)
c.5383T>C (p.Trp1795Arg)
c.5365T>C (p.Trp1789Arg)
c.5017T>C (p.Trp1673Arg)
c.4897T>C (p.Trp1633Arg)
c.*65T>C (n.*65T>C)
n.5139T>C
c.5524T>C (p.Trp1842Arg)
c.5461T>C (p.Trp1821Arg)
c.5452T>C (p.Trp1818Arg)
c.5062T>C (p.Trp1688Arg)
c.4921T>C (p.Trp1641Arg)
c.5353T>C (p.Trp1785Arg)
8g.41668377A>TCA371051362ANK1c.5407T>A (p.Trp1803Arg)
c.5503T>A (p.Trp1835Arg)
c.5320T>A (p.Trp1774Arg)
c.5284T>A (p.Trp1762Arg)
c.1298T>A
c.856T>A
c.2762T>A
n.2678T>A
c.4798T>A (p.Trp1600Arg)
c.5548T>A (p.Trp1850Arg)
c.5449T>A (p.Trp1817Arg)
c.5383T>A (p.Trp1795Arg)
c.5365T>A (p.Trp1789Arg)
c.5017T>A (p.Trp1673Arg)
c.4897T>A (p.Trp1633Arg)
c.*65T>A (n.*65T>A)
n.5139T>A
c.5524T>A (p.Trp1842Arg)
c.5461T>A (p.Trp1821Arg)
c.5452T>A (p.Trp1818Arg)
c.5062T>A (p.Trp1688Arg)
c.4921T>A (p.Trp1641Arg)
c.5353T>A (p.Trp1785Arg)
8g.41668378C>ACA460782028ANK1c.5406G>T (p.Thr1802=)
c.5502G>T (p.Thr1834=)
c.5319G>T (p.Thr1773=)
c.5283G>T (p.Thr1761=)
c.1297G>T
c.855G>T
c.2761G>T
n.2677G>T
c.4797G>T (p.Thr1599=)
c.5547G>T (p.Thr1849=)
c.5448G>T (p.Thr1816=)
c.5382G>T (p.Thr1794=)
c.5364G>T (p.Thr1788=)
c.5016G>T (p.Thr1672=)
c.4896G>T (p.Thr1632=)
c.*64G>T (n.*64G>T)
n.5138G>T
c.5523G>T (p.Thr1841=)
c.5460G>T (p.Thr1820=)
c.5451G>T (p.Thr1817=)
c.5061G>T (p.Thr1687=)
c.4920G>T (p.Thr1640=)
c.5352G>T (p.Thr1784=)
 gnomAD v4
8g.41668378C=CA1779071112ANK1c.5406G= (p.Thr1802=)
c.5502G= (p.Thr1834=)
c.5319G= (p.Thr1773=)
c.5283G= (p.Thr1761=)
c.1297G=
c.855G=
c.2761G=
n.2677G=
c.4797G= (p.Thr1599=)
c.5547G= (p.Thr1849=)
c.5448G= (p.Thr1816=)
c.5382G= (p.Thr1794=)
c.5364G= (p.Thr1788=)
c.5016G= (p.Thr1672=)
c.4896G= (p.Thr1632=)
c.*64G= (n.*64G=)
n.5138G=
c.5523G= (p.Thr1841=)
c.5460G= (p.Thr1820=)
c.5451G= (p.Thr1817=)
c.5061G= (p.Thr1687=)
c.4920G= (p.Thr1640=)
c.5352G= (p.Thr1784=)
8g.41668378C>GCA4727330ANK1c.5406G>C (p.Thr1802=)
c.5502G>C (p.Thr1834=)
c.5319G>C (p.Thr1773=)
c.5283G>C (p.Thr1761=)
c.1297G>C
c.855G>C
c.2761G>C
n.2677G>C
c.4797G>C (p.Thr1599=)
c.5547G>C (p.Thr1849=)
c.5448G>C (p.Thr1816=)
c.5382G>C (p.Thr1794=)
c.5364G>C (p.Thr1788=)
c.5016G>C (p.Thr1672=)
c.4896G>C (p.Thr1632=)
c.*64G>C (n.*64G>C)
n.5138G>C
c.5523G>C (p.Thr1841=)
c.5460G>C (p.Thr1820=)
c.5451G>C (p.Thr1817=)
c.5061G>C (p.Thr1687=)
c.4920G>C (p.Thr1640=)
c.5352G>C (p.Thr1784=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41668378C>TCA4727329ANK1c.5406G>A (p.Thr1802=)
c.5502G>A (p.Thr1834=)
c.5319G>A (p.Thr1773=)
c.5283G>A (p.Thr1761=)
c.1297G>A
c.855G>A
c.2761G>A
n.2677G>A
c.4797G>A (p.Thr1599=)
c.5547G>A (p.Thr1849=)
c.5448G>A (p.Thr1816=)
c.5382G>A (p.Thr1794=)
c.5364G>A (p.Thr1788=)
c.5016G>A (p.Thr1672=)
c.4896G>A (p.Thr1632=)
c.*64G>A (n.*64G>A)
n.5138G>A
c.5523G>A (p.Thr1841=)
c.5460G>A (p.Thr1820=)
c.5451G>A (p.Thr1817=)
c.5061G>A (p.Thr1687=)
c.4920G>A (p.Thr1640=)
c.5352G>A (p.Thr1784=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41668379G>ACA4727331ANK1c.5405C>T (p.Thr1802Met)
c.5501C>T (p.Thr1834Met)
c.5318C>T (p.Thr1773Met)
c.5282C>T (p.Thr1761Met)
c.1296C>T
c.854C>T
c.2760C>T
n.2676C>T
c.4796C>T (p.Thr1599Met)
c.5546C>T (p.Thr1849Met)
c.5447C>T (p.Thr1816Met)
c.5381C>T (p.Thr1794Met)
c.5363C>T (p.Thr1788Met)
c.5015C>T (p.Thr1672Met)
c.4895C>T (p.Thr1632Met)
c.*63C>T (n.*63C>T)
n.5137C>T
c.5522C>T (p.Thr1841Met)
c.5459C>T (p.Thr1820Met)
c.5450C>T (p.Thr1817Met)
c.5060C>T (p.Thr1687Met)
c.4919C>T (p.Thr1640Met)
c.5351C>T (p.Thr1784Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41668379G>CCA371051363ANK1c.5405C>G (p.Thr1802Arg)
c.5501C>G (p.Thr1834Arg)
c.5318C>G (p.Thr1773Arg)
c.5282C>G (p.Thr1761Arg)
c.1296C>G
c.854C>G
c.2760C>G
n.2676C>G
c.4796C>G (p.Thr1599Arg)
c.5546C>G (p.Thr1849Arg)
c.5447C>G (p.Thr1816Arg)
c.5381C>G (p.Thr1794Arg)
c.5363C>G (p.Thr1788Arg)
c.5015C>G (p.Thr1672Arg)
c.4895C>G (p.Thr1632Arg)
c.*63C>G (n.*63C>G)
n.5137C>G
c.5522C>G (p.Thr1841Arg)
c.5459C>G (p.Thr1820Arg)
c.5450C>G (p.Thr1817Arg)
c.5060C>G (p.Thr1687Arg)
c.4919C>G (p.Thr1640Arg)
c.5351C>G (p.Thr1784Arg)
8g.41668379G=CA1779071114ANK1c.5405C= (p.Thr1802=)
c.5501C= (p.Thr1834=)
c.5318C= (p.Thr1773=)
c.5282C= (p.Thr1761=)
c.1296C=
c.854C=
c.2760C=
n.2676C=
c.4796C= (p.Thr1599=)
c.5546C= (p.Thr1849=)
c.5447C= (p.Thr1816=)
c.5381C= (p.Thr1794=)
c.5363C= (p.Thr1788=)
c.5015C= (p.Thr1672=)
c.4895C= (p.Thr1632=)
c.*63C= (n.*63C=)
n.5137C=
c.5522C= (p.Thr1841=)
c.5459C= (p.Thr1820=)
c.5450C= (p.Thr1817=)
c.5060C= (p.Thr1687=)
c.4919C= (p.Thr1640=)
c.5351C= (p.Thr1784=)
8g.41668379G>TCA371051364ANK1c.5405C>A (p.Thr1802Lys)
c.5501C>A (p.Thr1834Lys)
c.5318C>A (p.Thr1773Lys)
c.5282C>A (p.Thr1761Lys)
c.1296C>A
c.854C>A
c.2760C>A
n.2676C>A
c.4796C>A (p.Thr1599Lys)
c.5546C>A (p.Thr1849Lys)
c.5447C>A (p.Thr1816Lys)
c.5381C>A (p.Thr1794Lys)
c.5363C>A (p.Thr1788Lys)
c.5015C>A (p.Thr1672Lys)
c.4895C>A (p.Thr1632Lys)
c.*63C>A (n.*63C>A)
n.5137C>A
c.5522C>A (p.Thr1841Lys)
c.5459C>A (p.Thr1820Lys)
c.5450C>A (p.Thr1817Lys)
c.5060C>A (p.Thr1687Lys)
c.4919C>A (p.Thr1640Lys)
c.5351C>A (p.Thr1784Lys)
8g.41668380T>ACA371051365ANK1c.5404A>T (p.Thr1802Ser)
c.5500A>T (p.Thr1834Ser)
c.5317A>T (p.Thr1773Ser)
c.5281A>T (p.Thr1761Ser)
c.1295A>T
c.853A>T
c.2759A>T
n.2675A>T
c.4795A>T (p.Thr1599Ser)
c.5545A>T (p.Thr1849Ser)
c.5446A>T (p.Thr1816Ser)
c.5380A>T (p.Thr1794Ser)
c.5362A>T (p.Thr1788Ser)
c.5014A>T (p.Thr1672Ser)
c.4894A>T (p.Thr1632Ser)
c.*62A>T (n.*62A>T)
n.5136A>T
c.5521A>T (p.Thr1841Ser)
c.5458A>T (p.Thr1820Ser)
c.5449A>T (p.Thr1817Ser)
c.5059A>T (p.Thr1687Ser)
c.4918A>T (p.Thr1640Ser)
c.5350A>T (p.Thr1784Ser)
8g.41668380T>CCA371051366ANK1c.5404A>G (p.Thr1802Ala)
c.5500A>G (p.Thr1834Ala)
c.5317A>G (p.Thr1773Ala)
c.5281A>G (p.Thr1761Ala)
c.1295A>G
c.853A>G
c.2759A>G
n.2675A>G
c.4795A>G (p.Thr1599Ala)
c.5545A>G (p.Thr1849Ala)
c.5446A>G (p.Thr1816Ala)
c.5380A>G (p.Thr1794Ala)
c.5362A>G (p.Thr1788Ala)
c.5014A>G (p.Thr1672Ala)
c.4894A>G (p.Thr1632Ala)
c.*62A>G (n.*62A>G)
n.5136A>G
c.5521A>G (p.Thr1841Ala)
c.5458A>G (p.Thr1820Ala)
c.5449A>G (p.Thr1817Ala)
c.5059A>G (p.Thr1687Ala)
c.4918A>G (p.Thr1640Ala)
c.5350A>G (p.Thr1784Ala)
8g.41668380T>GCA371051367ANK1c.5404A>C (p.Thr1802Pro)
c.5500A>C (p.Thr1834Pro)
c.5317A>C (p.Thr1773Pro)
c.5281A>C (p.Thr1761Pro)
c.1295A>C
c.853A>C
c.2759A>C
n.2675A>C
c.4795A>C (p.Thr1599Pro)
c.5545A>C (p.Thr1849Pro)
c.5446A>C (p.Thr1816Pro)
c.5380A>C (p.Thr1794Pro)
c.5362A>C (p.Thr1788Pro)
c.5014A>C (p.Thr1672Pro)
c.4894A>C (p.Thr1632Pro)
c.*62A>C (n.*62A>C)
n.5136A>C
c.5521A>C (p.Thr1841Pro)
c.5458A>C (p.Thr1820Pro)
c.5449A>C (p.Thr1817Pro)
c.5059A>C (p.Thr1687Pro)
c.4918A>C (p.Thr1640Pro)
c.5350A>C (p.Thr1784Pro)
8g.41668381G>ACA460782029ANK1c.5403C>T (p.His1801=)
c.5499C>T (p.His1833=)
c.5316C>T (p.His1772=)
c.5280C>T (p.His1760=)
c.1294C>T
c.852C>T
c.2758C>T
n.2674C>T
c.4794C>T (p.His1598=)
c.5544C>T (p.His1848=)
c.5445C>T (p.His1815=)
c.5379C>T (p.His1793=)
c.5361C>T (p.His1787=)
c.5013C>T (p.His1671=)
c.4893C>T (p.His1631=)
c.*61C>T (n.*61C>T)
n.5135C>T
c.5520C>T (p.His1840=)
c.5457C>T (p.His1819=)
c.5448C>T (p.His1816=)
c.5058C>T (p.His1686=)
c.4917C>T (p.His1639=)
c.5349C>T (p.His1783=)
 gnomAD v4
8g.41668381G>CCA371051369ANK1c.5403C>G (p.His1801Gln)
c.5499C>G (p.His1833Gln)
c.5316C>G (p.His1772Gln)
c.5280C>G (p.His1760Gln)
c.1294C>G
c.852C>G
c.2758C>G
n.2674C>G
c.4794C>G (p.His1598Gln)
c.5544C>G (p.His1848Gln)
c.5445C>G (p.His1815Gln)
c.5379C>G (p.His1793Gln)
c.5361C>G (p.His1787Gln)
c.5013C>G (p.His1671Gln)
c.4893C>G (p.His1631Gln)
c.*61C>G (n.*61C>G)
n.5135C>G
c.5520C>G (p.His1840Gln)
c.5457C>G (p.His1819Gln)
c.5448C>G (p.His1816Gln)
c.5058C>G (p.His1686Gln)
c.4917C>G (p.His1639Gln)
c.5349C>G (p.His1783Gln)
8g.41668381G>TCA371051368ANK1c.5403C>A (p.His1801Gln)
c.5499C>A (p.His1833Gln)
c.5316C>A (p.His1772Gln)
c.5280C>A (p.His1760Gln)
c.1294C>A
c.852C>A
c.2758C>A
n.2674C>A
c.4794C>A (p.His1598Gln)
c.5544C>A (p.His1848Gln)
c.5445C>A (p.His1815Gln)
c.5379C>A (p.His1793Gln)
c.5361C>A (p.His1787Gln)
c.5013C>A (p.His1671Gln)
c.4893C>A (p.His1631Gln)
c.*61C>A (n.*61C>A)
n.5135C>A
c.5520C>A (p.His1840Gln)
c.5457C>A (p.His1819Gln)
c.5448C>A (p.His1816Gln)
c.5058C>A (p.His1686Gln)
c.4917C>A (p.His1639Gln)
c.5349C>A (p.His1783Gln)
 COSMIC COSMIC
8g.41668382T>ACA371051370ANK1c.5402A>T (p.His1801Leu)
c.5498A>T (p.His1833Leu)
c.5315A>T (p.His1772Leu)
c.5279A>T (p.His1760Leu)
c.1293A>T
c.851A>T
c.2757A>T
n.2673A>T
c.4793A>T (p.His1598Leu)
c.5543A>T (p.His1848Leu)
c.5444A>T (p.His1815Leu)
c.5378A>T (p.His1793Leu)
c.5360A>T (p.His1787Leu)
c.5012A>T (p.His1671Leu)
c.4892A>T (p.His1631Leu)
c.*60A>T (n.*60A>T)
n.5134A>T
c.5519A>T (p.His1840Leu)
c.5456A>T (p.His1819Leu)
c.5447A>T (p.His1816Leu)
c.5057A>T (p.His1686Leu)
c.4916A>T (p.His1639Leu)
c.5348A>T (p.His1783Leu)
8g.41668382T>CCA371051372ANK1c.5402A>G (p.His1801Arg)
c.5498A>G (p.His1833Arg)
c.5315A>G (p.His1772Arg)
c.5279A>G (p.His1760Arg)
c.1293A>G
c.851A>G
c.2757A>G
n.2673A>G
c.4793A>G (p.His1598Arg)
c.5543A>G (p.His1848Arg)
c.5444A>G (p.His1815Arg)
c.5378A>G (p.His1793Arg)
c.5360A>G (p.His1787Arg)
c.5012A>G (p.His1671Arg)
c.4892A>G (p.His1631Arg)
c.*60A>G (n.*60A>G)
n.5134A>G
c.5519A>G (p.His1840Arg)
c.5456A>G (p.His1819Arg)
c.5447A>G (p.His1816Arg)
c.5057A>G (p.His1686Arg)
c.4916A>G (p.His1639Arg)
c.5348A>G (p.His1783Arg)
8g.41668382T>GCA371051371ANK1c.5402A>C (p.His1801Pro)
c.5498A>C (p.His1833Pro)
c.5315A>C (p.His1772Pro)
c.5279A>C (p.His1760Pro)
c.1293A>C
c.851A>C
c.2757A>C
n.2673A>C
c.4793A>C (p.His1598Pro)
c.5543A>C (p.His1848Pro)
c.5444A>C (p.His1815Pro)
c.5378A>C (p.His1793Pro)
c.5360A>C (p.His1787Pro)
c.5012A>C (p.His1671Pro)
c.4892A>C (p.His1631Pro)
c.*60A>C (n.*60A>C)
n.5134A>C
c.5519A>C (p.His1840Pro)
c.5456A>C (p.His1819Pro)
c.5447A>C (p.His1816Pro)
c.5057A>C (p.His1686Pro)
c.4916A>C (p.His1639Pro)
c.5348A>C (p.His1783Pro)
8g.41668383G>ACA371051373ANK1c.5401C>T (p.His1801Tyr)
c.5497C>T (p.His1833Tyr)
c.5314C>T (p.His1772Tyr)
c.5278C>T (p.His1760Tyr)
c.1292C>T
c.850C>T
c.2756C>T
n.2672C>T
c.4792C>T (p.His1598Tyr)
c.5542C>T (p.His1848Tyr)
c.5443C>T (p.His1815Tyr)
c.5377C>T (p.His1793Tyr)
c.5359C>T (p.His1787Tyr)
c.5011C>T (p.His1671Tyr)
c.4891C>T (p.His1631Tyr)
c.*59C>T (n.*59C>T)
n.5133C>T
c.5518C>T (p.His1840Tyr)
c.5455C>T (p.His1819Tyr)
c.5446C>T (p.His1816Tyr)
c.5056C>T (p.His1686Tyr)
c.4915C>T (p.His1639Tyr)
c.5347C>T (p.His1783Tyr)
 gnomAD v4
8g.41668383G>CCA371051375ANK1c.5401C>G (p.His1801Asp)
c.5497C>G (p.His1833Asp)
c.5314C>G (p.His1772Asp)
c.5278C>G (p.His1760Asp)
c.1292C>G
c.850C>G
c.2756C>G
n.2672C>G
c.4792C>G (p.His1598Asp)
c.5542C>G (p.His1848Asp)
c.5443C>G (p.His1815Asp)
c.5377C>G (p.His1793Asp)
c.5359C>G (p.His1787Asp)
c.5011C>G (p.His1671Asp)
c.4891C>G (p.His1631Asp)
c.*59C>G (n.*59C>G)
n.5133C>G
c.5518C>G (p.His1840Asp)
c.5455C>G (p.His1819Asp)
c.5446C>G (p.His1816Asp)
c.5056C>G (p.His1686Asp)
c.4915C>G (p.His1639Asp)
c.5347C>G (p.His1783Asp)
8g.41668383G>TCA371051374ANK1c.5401C>A (p.His1801Asn)
c.5497C>A (p.His1833Asn)
c.5314C>A (p.His1772Asn)
c.5278C>A (p.His1760Asn)
c.1292C>A
c.850C>A
c.2756C>A
n.2672C>A
c.4792C>A (p.His1598Asn)
c.5542C>A (p.His1848Asn)
c.5443C>A (p.His1815Asn)
c.5377C>A (p.His1793Asn)
c.5359C>A (p.His1787Asn)
c.5011C>A (p.His1671Asn)
c.4891C>A (p.His1631Asn)
c.*59C>A (n.*59C>A)
n.5133C>A
c.5518C>A (p.His1840Asn)
c.5455C>A (p.His1819Asn)
c.5446C>A (p.His1816Asn)
c.5056C>A (p.His1686Asn)
c.4915C>A (p.His1639Asn)
c.5347C>A (p.His1783Asn)
 COSMIC COSMIC
8g.41668384C>ACA371051376ANK1c.5400G>T (p.Glu1800Asp)
c.5496G>T (p.Glu1832Asp)
c.5313G>T (p.Glu1771Asp)
c.5277G>T (p.Glu1759Asp)
c.1291G>T
c.849G>T
c.2755G>T
n.2671G>T
c.4791G>T (p.Glu1597Asp)
c.5541G>T (p.Glu1847Asp)
c.5442G>T (p.Glu1814Asp)
c.5376G>T (p.Glu1792Asp)
c.5358G>T (p.Glu1786Asp)
c.5010G>T (p.Glu1670Asp)
c.4890G>T (p.Glu1630Asp)
c.*58G>T (n.*58G>T)
n.5132G>T
c.5517G>T (p.Glu1839Asp)
c.5454G>T (p.Glu1818Asp)
c.5445G>T (p.Glu1815Asp)
c.5055G>T (p.Glu1685Asp)
c.4914G>T (p.Glu1638Asp)
c.5346G>T (p.Glu1782Asp)
8g.41668384C>GCA371051377ANK1c.5400G>C (p.Glu1800Asp)
c.5496G>C (p.Glu1832Asp)
c.5313G>C (p.Glu1771Asp)
c.5277G>C (p.Glu1759Asp)
c.1291G>C
c.849G>C
c.2755G>C
n.2671G>C
c.4791G>C (p.Glu1597Asp)
c.5541G>C (p.Glu1847Asp)
c.5442G>C (p.Glu1814Asp)
c.5376G>C (p.Glu1792Asp)
c.5358G>C (p.Glu1786Asp)
c.5010G>C (p.Glu1670Asp)
c.4890G>C (p.Glu1630Asp)
c.*58G>C (n.*58G>C)
n.5132G>C
c.5517G>C (p.Glu1839Asp)
c.5454G>C (p.Glu1818Asp)
c.5445G>C (p.Glu1815Asp)
c.5055G>C (p.Glu1685Asp)
c.4914G>C (p.Glu1638Asp)
c.5346G>C (p.Glu1782Asp)
8g.41668384C>TCA460782030ANK1c.5400G>A (p.Glu1800=)
c.5496G>A (p.Glu1832=)
c.5313G>A (p.Glu1771=)
c.5277G>A (p.Glu1759=)
c.1291G>A
c.849G>A
c.2755G>A
n.2671G>A
c.4791G>A (p.Glu1597=)
c.5541G>A (p.Glu1847=)
c.5442G>A (p.Glu1814=)
c.5376G>A (p.Glu1792=)
c.5358G>A (p.Glu1786=)
c.5010G>A (p.Glu1670=)
c.4890G>A (p.Glu1630=)
c.*58G>A (n.*58G>A)
n.5132G>A
c.5517G>A (p.Glu1839=)
c.5454G>A (p.Glu1818=)
c.5445G>A (p.Glu1815=)
c.5055G>A (p.Glu1685=)
c.4914G>A (p.Glu1638=)
c.5346G>A (p.Glu1782=)
8g.41668385T>ACA371051378ANK1c.5399A>T (p.Glu1800Val)
c.5495A>T (p.Glu1832Val)
c.5312A>T (p.Glu1771Val)
c.5276A>T (p.Glu1759Val)
c.1290A>T
c.848A>T
c.2754A>T
n.2670A>T
c.4790A>T (p.Glu1597Val)
c.5540A>T (p.Glu1847Val)
c.5441A>T (p.Glu1814Val)
c.5375A>T (p.Glu1792Val)
c.5357A>T (p.Glu1786Val)
c.5009A>T (p.Glu1670Val)
c.4889A>T (p.Glu1630Val)
c.*57A>T (n.*57A>T)
n.5131A>T
c.5516A>T (p.Glu1839Val)
c.5453A>T (p.Glu1818Val)
c.5444A>T (p.Glu1815Val)
c.5054A>T (p.Glu1685Val)
c.4913A>T (p.Glu1638Val)
c.5345A>T (p.Glu1782Val)
8g.41668385T>CCA371051379ANK1c.5399A>G (p.Glu1800Gly)
c.5495A>G (p.Glu1832Gly)
c.5312A>G (p.Glu1771Gly)
c.5276A>G (p.Glu1759Gly)
c.1290A>G
c.848A>G
c.2754A>G
n.2670A>G
c.4790A>G (p.Glu1597Gly)
c.5540A>G (p.Glu1847Gly)
c.5441A>G (p.Glu1814Gly)
c.5375A>G (p.Glu1792Gly)
c.5357A>G (p.Glu1786Gly)
c.5009A>G (p.Glu1670Gly)
c.4889A>G (p.Glu1630Gly)
c.*57A>G (n.*57A>G)
n.5131A>G
c.5516A>G (p.Glu1839Gly)
c.5453A>G (p.Glu1818Gly)
c.5444A>G (p.Glu1815Gly)
c.5054A>G (p.Glu1685Gly)
c.4913A>G (p.Glu1638Gly)
c.5345A>G (p.Glu1782Gly)
8g.41668385T>GCA371051380ANK1c.5399A>C (p.Glu1800Ala)
c.5495A>C (p.Glu1832Ala)
c.5312A>C (p.Glu1771Ala)
c.5276A>C (p.Glu1759Ala)
c.1290A>C
c.848A>C
c.2754A>C
n.2670A>C
c.4790A>C (p.Glu1597Ala)
c.5540A>C (p.Glu1847Ala)
c.5441A>C (p.Glu1814Ala)
c.5375A>C (p.Glu1792Ala)
c.5357A>C (p.Glu1786Ala)
c.5009A>C (p.Glu1670Ala)
c.4889A>C (p.Glu1630Ala)
c.*57A>C (n.*57A>C)
n.5131A>C
c.5516A>C (p.Glu1839Ala)
c.5453A>C (p.Glu1818Ala)
c.5444A>C (p.Glu1815Ala)
c.5054A>C (p.Glu1685Ala)
c.4913A>C (p.Glu1638Ala)
c.5345A>C (p.Glu1782Ala)
8g.41668386C>ACA371051381ANK1c.5398G>T (p.Glu1800Ter)
c.5494G>T (p.Glu1832Ter)
c.5311G>T (p.Glu1771Ter)
c.5275G>T (p.Glu1759Ter)
c.1289G>T
c.847G>T
c.2753G>T
n.2669G>T
c.4789G>T (p.Glu1597Ter)
c.5539G>T (p.Glu1847Ter)
c.5440G>T (p.Glu1814Ter)
c.5374G>T (p.Glu1792Ter)
c.5356G>T (p.Glu1786Ter)
c.5008G>T (p.Glu1670Ter)
c.4888G>T (p.Glu1630Ter)
c.*56G>T (n.*56G>T)
n.5130G>T
c.5515G>T (p.Glu1839Ter)
c.5452G>T (p.Glu1818Ter)
c.5443G>T (p.Glu1815Ter)
c.5053G>T (p.Glu1685Ter)
c.4912G>T (p.Glu1638Ter)
c.5344G>T (p.Glu1782Ter)
8g.41668386C=CA1779071117ANK1c.5398G= (p.Glu1800=)
c.5494G= (p.Glu1832=)
c.5311G= (p.Glu1771=)
c.5275G= (p.Glu1759=)
c.1289G=
c.847G=
c.2753G=
n.2669G=
c.4789G= (p.Glu1597=)
c.5539G= (p.Glu1847=)
c.5440G= (p.Glu1814=)
c.5374G= (p.Glu1792=)
c.5356G= (p.Glu1786=)
c.5008G= (p.Glu1670=)
c.4888G= (p.Glu1630=)
c.*56G= (n.*56G=)
n.5130G=
c.5515G= (p.Glu1839=)
c.5452G= (p.Glu1818=)
c.5443G= (p.Glu1815=)
c.5053G= (p.Glu1685=)
c.4912G= (p.Glu1638=)
c.5344G= (p.Glu1782=)
8g.41668386C>GCA371051382ANK1c.5398G>C (p.Glu1800Gln)
c.5494G>C (p.Glu1832Gln)
c.5311G>C (p.Glu1771Gln)
c.5275G>C (p.Glu1759Gln)
c.1289G>C
c.847G>C
c.2753G>C
n.2669G>C
c.4789G>C (p.Glu1597Gln)
c.5539G>C (p.Glu1847Gln)
c.5440G>C (p.Glu1814Gln)
c.5374G>C (p.Glu1792Gln)
c.5356G>C (p.Glu1786Gln)
c.5008G>C (p.Glu1670Gln)
c.4888G>C (p.Glu1630Gln)
c.*56G>C (n.*56G>C)
n.5130G>C
c.5515G>C (p.Glu1839Gln)
c.5452G>C (p.Glu1818Gln)
c.5443G>C (p.Glu1815Gln)
c.5053G>C (p.Glu1685Gln)
c.4912G>C (p.Glu1638Gln)
c.5344G>C (p.Glu1782Gln)
8g.41668386C>TCA4727332ANK1c.5398G>A (p.Glu1800Lys)
c.5494G>A (p.Glu1832Lys)
c.5311G>A (p.Glu1771Lys)
c.5275G>A (p.Glu1759Lys)
c.1289G>A
c.847G>A
c.2753G>A
n.2669G>A
c.4789G>A (p.Glu1597Lys)
c.5539G>A (p.Glu1847Lys)
c.5440G>A (p.Glu1814Lys)
c.5374G>A (p.Glu1792Lys)
c.5356G>A (p.Glu1786Lys)
c.5008G>A (p.Glu1670Lys)
c.4888G>A (p.Glu1630Lys)
c.*56G>A (n.*56G>A)
n.5130G>A
c.5515G>A (p.Glu1839Lys)
c.5452G>A (p.Glu1818Lys)
c.5443G>A (p.Glu1815Lys)
c.5053G>A (p.Glu1685Lys)
c.4912G>A (p.Glu1638Lys)
c.5344G>A (p.Glu1782Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
8g.41668387A=CA1779071120ANK1c.5397T= (p.Ser1799=)
c.5493T= (p.Ser1831=)
c.5310T= (p.Ser1770=)
c.5274T= (p.Ser1758=)
c.1288T=
c.846T=
c.2752T=
n.2668T=
c.4788T= (p.Ser1596=)
c.5538T= (p.Ser1846=)
c.5439T= (p.Ser1813=)
c.5373T= (p.Ser1791=)
c.5355T= (p.Ser1785=)
c.5007T= (p.Ser1669=)
c.4887T= (p.Ser1629=)
c.*55T= (n.*55T=)
n.5129T=
c.5514T= (p.Ser1838=)
c.5451T= (p.Ser1817=)
c.5442T= (p.Ser1814=)
c.5052T= (p.Ser1684=)
c.4911T= (p.Ser1637=)
c.5343T= (p.Ser1781=)
8g.41668387A>CCA371051383ANK1c.5397T>G (p.Ser1799Arg)
c.5493T>G (p.Ser1831Arg)
c.5310T>G (p.Ser1770Arg)
c.5274T>G (p.Ser1758Arg)
c.1288T>G
c.846T>G
c.2752T>G
n.2668T>G
c.4788T>G (p.Ser1596Arg)
c.5538T>G (p.Ser1846Arg)
c.5439T>G (p.Ser1813Arg)
c.5373T>G (p.Ser1791Arg)
c.5355T>G (p.Ser1785Arg)
c.5007T>G (p.Ser1669Arg)
c.4887T>G (p.Ser1629Arg)
c.*55T>G (n.*55T>G)
n.5129T>G
c.5514T>G (p.Ser1838Arg)
c.5451T>G (p.Ser1817Arg)
c.5442T>G (p.Ser1814Arg)
c.5052T>G (p.Ser1684Arg)
c.4911T>G (p.Ser1637Arg)
c.5343T>G (p.Ser1781Arg)
 gnomAD v4
8g.41668387A>GCA4727333ANK1c.5397T>C (p.Ser1799=)
c.5493T>C (p.Ser1831=)
c.5310T>C (p.Ser1770=)
c.5274T>C (p.Ser1758=)
c.1288T>C
c.846T>C
c.2752T>C
n.2668T>C
c.4788T>C (p.Ser1596=)
c.5538T>C (p.Ser1846=)
c.5439T>C (p.Ser1813=)
c.5373T>C (p.Ser1791=)
c.5355T>C (p.Ser1785=)
c.5007T>C (p.Ser1669=)
c.4887T>C (p.Ser1629=)
c.*55T>C (n.*55T>C)
n.5129T>C
c.5514T>C (p.Ser1838=)
c.5451T>C (p.Ser1817=)
c.5442T>C (p.Ser1814=)
c.5052T>C (p.Ser1684=)
c.4911T>C (p.Ser1637=)
c.5343T>C (p.Ser1781=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.41668387A>TCA371051384ANK1c.5397T>A (p.Ser1799Arg)
c.5493T>A (p.Ser1831Arg)
c.5310T>A (p.Ser1770Arg)
c.5274T>A (p.Ser1758Arg)
c.1288T>A
c.846T>A
c.2752T>A
n.2668T>A
c.4788T>A (p.Ser1596Arg)
c.5538T>A (p.Ser1846Arg)
c.5439T>A (p.Ser1813Arg)
c.5373T>A (p.Ser1791Arg)
c.5355T>A (p.Ser1785Arg)
c.5007T>A (p.Ser1669Arg)
c.4887T>A (p.Ser1629Arg)
c.*55T>A (n.*55T>A)
n.5129T>A
c.5514T>A (p.Ser1838Arg)
c.5451T>A (p.Ser1817Arg)
c.5442T>A (p.Ser1814Arg)
c.5052T>A (p.Ser1684Arg)
c.4911T>A (p.Ser1637Arg)
c.5343T>A (p.Ser1781Arg)
8g.41668388C>ACA371051386ANK1c.5396G>T (p.Ser1799Ile)
c.5492G>T (p.Ser1831Ile)
c.5309G>T (p.Ser1770Ile)
c.5273G>T (p.Ser1758Ile)
c.1287G>T
c.845G>T
c.2751G>T
n.2667G>T
c.4787G>T (p.Ser1596Ile)
c.5537G>T (p.Ser1846Ile)
c.5438G>T (p.Ser1813Ile)
c.5372G>T (p.Ser1791Ile)
c.5354G>T (p.Ser1785Ile)
c.5006G>T (p.Ser1669Ile)
c.4886G>T (p.Ser1629Ile)
c.*54G>T (n.*54G>T)
n.5128G>T
c.5513G>T (p.Ser1838Ile)
c.5450G>T (p.Ser1817Ile)
c.5441G>T (p.Ser1814Ile)
c.5051G>T (p.Ser1684Ile)
c.4910G>T (p.Ser1637Ile)
c.5342G>T (p.Ser1781Ile)
8g.41668388C=CA1779071123ANK1c.5396G= (p.Ser1799=)
c.5492G= (p.Ser1831=)
c.5309G= (p.Ser1770=)
c.5273G= (p.Ser1758=)
c.1287G=
c.845G=
c.2751G=
n.2667G=
c.4787G= (p.Ser1596=)
c.5537G= (p.Ser1846=)
c.5438G= (p.Ser1813=)
c.5372G= (p.Ser1791=)
c.5354G= (p.Ser1785=)
c.5006G= (p.Ser1669=)
c.4886G= (p.Ser1629=)
c.*54G= (n.*54G=)
n.5128G=
c.5513G= (p.Ser1838=)
c.5450G= (p.Ser1817=)
c.5441G= (p.Ser1814=)
c.5051G= (p.Ser1684=)
c.4910G= (p.Ser1637=)
c.5342G= (p.Ser1781=)
8g.41668388C>GCA175914296ANK1c.5396G>C (p.Ser1799Thr)
c.5492G>C (p.Ser1831Thr)
c.5309G>C (p.Ser1770Thr)
c.5273G>C (p.Ser1758Thr)
c.1287G>C
c.845G>C
c.2751G>C
n.2667G>C
c.4787G>C (p.Ser1596Thr)
c.5537G>C (p.Ser1846Thr)
c.5438G>C (p.Ser1813Thr)
c.5372G>C (p.Ser1791Thr)
c.5354G>C (p.Ser1785Thr)
c.5006G>C (p.Ser1669Thr)
c.4886G>C (p.Ser1629Thr)
c.*54G>C (n.*54G>C)
n.5128G>C
c.5513G>C (p.Ser1838Thr)
c.5450G>C (p.Ser1817Thr)
c.5441G>C (p.Ser1814Thr)
c.5051G>C (p.Ser1684Thr)
c.4910G>C (p.Ser1637Thr)
c.5342G>C (p.Ser1781Thr)
 dbSNP
8g.41668388C>TCA371051385ANK1c.5396G>A (p.Ser1799Asn)
c.5492G>A (p.Ser1831Asn)
c.5309G>A (p.Ser1770Asn)
c.5273G>A (p.Ser1758Asn)
c.1287G>A
c.845G>A
c.2751G>A
n.2667G>A
c.4787G>A (p.Ser1596Asn)
c.5537G>A (p.Ser1846Asn)
c.5438G>A (p.Ser1813Asn)
c.5372G>A (p.Ser1791Asn)
c.5354G>A (p.Ser1785Asn)
c.5006G>A (p.Ser1669Asn)
c.4886G>A (p.Ser1629Asn)
c.*54G>A (n.*54G>A)
n.5128G>A
c.5513G>A (p.Ser1838Asn)
c.5450G>A (p.Ser1817Asn)
c.5441G>A (p.Ser1814Asn)
c.5051G>A (p.Ser1684Asn)
c.4910G>A (p.Ser1637Asn)
c.5342G>A (p.Ser1781Asn)
 gnomAD v4
8g.41668389T>ACA371051387ANK1c.5395A>T (p.Ser1799Cys)
c.5491A>T (p.Ser1831Cys)
c.5308A>T (p.Ser1770Cys)
c.5272A>T (p.Ser1758Cys)
c.1286A>T
c.844A>T
c.2750A>T
n.2666A>T
c.4786A>T (p.Ser1596Cys)
c.5536A>T (p.Ser1846Cys)
c.5437A>T (p.Ser1813Cys)
c.5371A>T (p.Ser1791Cys)
c.5353A>T (p.Ser1785Cys)
c.5005A>T (p.Ser1669Cys)
c.4885A>T (p.Ser1629Cys)
c.*53A>T (n.*53A>T)
n.5127A>T
c.5512A>T (p.Ser1838Cys)
c.5449A>T (p.Ser1817Cys)
c.5440A>T (p.Ser1814Cys)
c.5050A>T (p.Ser1684Cys)
c.4909A>T (p.Ser1637Cys)
c.5341A>T (p.Ser1781Cys)
8g.41668389T>CCA371051388ANK1c.5395A>G (p.Ser1799Gly)
c.5491A>G (p.Ser1831Gly)
c.5308A>G (p.Ser1770Gly)
c.5272A>G (p.Ser1758Gly)
c.1286A>G
c.844A>G
c.2750A>G
n.2666A>G
c.4786A>G (p.Ser1596Gly)
c.5536A>G (p.Ser1846Gly)
c.5437A>G (p.Ser1813Gly)
c.5371A>G (p.Ser1791Gly)
c.5353A>G (p.Ser1785Gly)
c.5005A>G (p.Ser1669Gly)
c.4885A>G (p.Ser1629Gly)
c.*53A>G (n.*53A>G)
n.5127A>G
c.5512A>G (p.Ser1838Gly)
c.5449A>G (p.Ser1817Gly)
c.5440A>G (p.Ser1814Gly)
c.5050A>G (p.Ser1684Gly)
c.4909A>G (p.Ser1637Gly)
c.5341A>G (p.Ser1781Gly)
8g.41668389T>GCA371051389ANK1c.5395A>C (p.Ser1799Arg)
c.5491A>C (p.Ser1831Arg)
c.5308A>C (p.Ser1770Arg)
c.5272A>C (p.Ser1758Arg)
c.1286A>C
c.844A>C
c.2750A>C
n.2666A>C
c.4786A>C (p.Ser1596Arg)
c.5536A>C (p.Ser1846Arg)
c.5437A>C (p.Ser1813Arg)
c.5371A>C (p.Ser1791Arg)
c.5353A>C (p.Ser1785Arg)
c.5005A>C (p.Ser1669Arg)
c.4885A>C (p.Ser1629Arg)
c.*53A>C (n.*53A>C)
n.5127A>C
c.5512A>C (p.Ser1838Arg)
c.5449A>C (p.Ser1817Arg)
c.5440A>C (p.Ser1814Arg)
c.5050A>C (p.Ser1684Arg)
c.4909A>C (p.Ser1637Arg)
c.5341A>C (p.Ser1781Arg)
8g.41668390T>ACA460782031ANK1c.5394A>T (p.Val1798=)
c.5490A>T (p.Val1830=)
c.5307A>T (p.Val1769=)
c.5271A>T (p.Val1757=)
c.1285A>T
c.843A>T
c.2749A>T
n.2665A>T
c.4785A>T (p.Val1595=)
c.5535A>T (p.Val1845=)
c.5436A>T (p.Val1812=)
c.5370A>T (p.Val1790=)
c.5352A>T (p.Val1784=)
c.5004A>T (p.Val1668=)
c.4884A>T (p.Val1628=)
c.*52A>T (n.*52A>T)
n.5126A>T
c.5511A>T (p.Val1837=)
c.5448A>T (p.Val1816=)
c.5439A>T (p.Val1813=)
c.5049A>T (p.Val1683=)
c.4908A>T (p.Val1636=)
c.5340A>T (p.Val1780=)
8g.41668390T>CCA4727334ANK1c.5394A>G (p.Val1798=)
c.5490A>G (p.Val1830=)
c.5307A>G (p.Val1769=)
c.5271A>G (p.Val1757=)
c.1285A>G
c.843A>G
c.2749A>G
n.2665A>G
c.4785A>G (p.Val1595=)
c.5535A>G (p.Val1845=)
c.5436A>G (p.Val1812=)
c.5370A>G (p.Val1790=)
c.5352A>G (p.Val1784=)
c.5004A>G (p.Val1668=)
c.4884A>G (p.Val1628=)
c.*52A>G (n.*52A>G)
n.5126A>G
c.5511A>G (p.Val1837=)
c.5448A>G (p.Val1816=)
c.5439A>G (p.Val1813=)
c.5049A>G (p.Val1683=)
c.4908A>G (p.Val1636=)
c.5340A>G (p.Val1780=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.41668390T>GCA460782032ANK1c.5394A>C (p.Val1798=)
c.5490A>C (p.Val1830=)
c.5307A>C (p.Val1769=)
c.5271A>C (p.Val1757=)
c.1285A>C
c.843A>C
c.2749A>C
n.2665A>C
c.4785A>C (p.Val1595=)
c.5535A>C (p.Val1845=)
c.5436A>C (p.Val1812=)
c.5370A>C (p.Val1790=)
c.5352A>C (p.Val1784=)
c.5004A>C (p.Val1668=)
c.4884A>C (p.Val1628=)
c.*52A>C (n.*52A>C)
n.5126A>C
c.5511A>C (p.Val1837=)
c.5448A>C (p.Val1816=)
c.5439A>C (p.Val1813=)
c.5049A>C (p.Val1683=)
c.4908A>C (p.Val1636=)
c.5340A>C (p.Val1780=)
8g.41668390T=CA1779071126ANK1c.5394A= (p.Val1798=)
c.5490A= (p.Val1830=)
c.5307A= (p.Val1769=)
c.5271A= (p.Val1757=)
c.1285A=
c.843A=
c.2749A=
n.2665A=
c.4785A= (p.Val1595=)
c.5535A= (p.Val1845=)
c.5436A= (p.Val1812=)
c.5370A= (p.Val1790=)
c.5352A= (p.Val1784=)
c.5004A= (p.Val1668=)
c.4884A= (p.Val1628=)
c.*52A= (n.*52A=)
n.5126A=
c.5511A= (p.Val1837=)
c.5448A= (p.Val1816=)
c.5439A= (p.Val1813=)
c.5049A= (p.Val1683=)
c.4908A= (p.Val1636=)
c.5340A= (p.Val1780=)
8g.41668391A>CCA371051390ANK1c.5393T>G (p.Val1798Gly)
c.5489T>G (p.Val1830Gly)
c.5306T>G (p.Val1769Gly)
c.5270T>G (p.Val1757Gly)
c.1284T>G
c.842T>G
c.2748T>G
n.2664T>G
c.4784T>G (p.Val1595Gly)
c.5534T>G (p.Val1845Gly)
c.5435T>G (p.Val1812Gly)
c.5369T>G (p.Val1790Gly)
c.5351T>G (p.Val1784Gly)
c.5003T>G (p.Val1668Gly)
c.4883T>G (p.Val1628Gly)
c.*51T>G (n.*51T>G)
n.5125T>G
c.5510T>G (p.Val1837Gly)
c.5447T>G (p.Val1816Gly)
c.5438T>G (p.Val1813Gly)
c.5048T>G (p.Val1683Gly)
c.4907T>G (p.Val1636Gly)
c.5339T>G (p.Val1780Gly)
8g.41668391A>GCA371051391ANK1c.5393T>C (p.Val1798Ala)
c.5489T>C (p.Val1830Ala)
c.5306T>C (p.Val1769Ala)
c.5270T>C (p.Val1757Ala)
c.1284T>C
c.842T>C
c.2748T>C
n.2664T>C
c.4784T>C (p.Val1595Ala)
c.5534T>C (p.Val1845Ala)
c.5435T>C (p.Val1812Ala)
c.5369T>C (p.Val1790Ala)
c.5351T>C (p.Val1784Ala)
c.5003T>C (p.Val1668Ala)
c.4883T>C (p.Val1628Ala)
c.*51T>C (n.*51T>C)
n.5125T>C
c.5510T>C (p.Val1837Ala)
c.5447T>C (p.Val1816Ala)
c.5438T>C (p.Val1813Ala)
c.5048T>C (p.Val1683Ala)
c.4907T>C (p.Val1636Ala)
c.5339T>C (p.Val1780Ala)
8g.41668391A>TCA371051392ANK1c.5393T>A (p.Val1798Glu)
c.5489T>A (p.Val1830Glu)
c.5306T>A (p.Val1769Glu)
c.5270T>A (p.Val1757Glu)
c.1284T>A
c.842T>A
c.2748T>A
n.2664T>A
c.4784T>A (p.Val1595Glu)
c.5534T>A (p.Val1845Glu)
c.5435T>A (p.Val1812Glu)
c.5369T>A (p.Val1790Glu)
c.5351T>A (p.Val1784Glu)
c.5003T>A (p.Val1668Glu)
c.4883T>A (p.Val1628Glu)
c.*51T>A (n.*51T>A)
n.5125T>A
c.5510T>A (p.Val1837Glu)
c.5447T>A (p.Val1816Glu)
c.5438T>A (p.Val1813Glu)
c.5048T>A (p.Val1683Glu)
c.4907T>A (p.Val1636Glu)
c.5339T>A (p.Val1780Glu)
8g.41668392C>ACA371051393ANK1c.5392G>T (p.Val1798Leu)
c.5488G>T (p.Val1830Leu)
c.5305G>T (p.Val1769Leu)
c.5269G>T (p.Val1757Leu)
c.1283G>T
c.841G>T
c.2747G>T
n.2663G>T
c.4783G>T (p.Val1595Leu)
c.5533G>T (p.Val1845Leu)
c.5434G>T (p.Val1812Leu)
c.5368G>T (p.Val1790Leu)
c.5350G>T (p.Val1784Leu)
c.5002G>T (p.Val1668Leu)
c.4882G>T (p.Val1628Leu)
c.*50G>T (n.*50G>T)
n.5124G>T
c.5509G>T (p.Val1837Leu)
c.5446G>T (p.Val1816Leu)
c.5437G>T (p.Val1813Leu)
c.5047G>T (p.Val1683Leu)
c.4906G>T (p.Val1636Leu)
c.5338G>T (p.Val1780Leu)
8g.41668392C=CA1779071128ANK1c.5392G= (p.Val1798=)
c.5488G= (p.Val1830=)
c.5305G= (p.Val1769=)
c.5269G= (p.Val1757=)
c.1283G=
c.841G=
c.2747G=
n.2663G=
c.4783G= (p.Val1595=)
c.5533G= (p.Val1845=)
c.5434G= (p.Val1812=)
c.5368G= (p.Val1790=)
c.5350G= (p.Val1784=)
c.5002G= (p.Val1668=)
c.4882G= (p.Val1628=)
c.*50G= (n.*50G=)
n.5124G=
c.5509G= (p.Val1837=)
c.5446G= (p.Val1816=)
c.5437G= (p.Val1813=)
c.5047G= (p.Val1683=)
c.4906G= (p.Val1636=)
c.5338G= (p.Val1780=)
8g.41668392C>GCA4727335ANK1c.5392G>C (p.Val1798Leu)
c.5488G>C (p.Val1830Leu)
c.5305G>C (p.Val1769Leu)
c.5269G>C (p.Val1757Leu)
c.1283G>C
c.841G>C
c.2747G>C
n.2663G>C
c.4783G>C (p.Val1595Leu)
c.5533G>C (p.Val1845Leu)
c.5434G>C (p.Val1812Leu)
c.5368G>C (p.Val1790Leu)
c.5350G>C (p.Val1784Leu)
c.5002G>C (p.Val1668Leu)
c.4882G>C (p.Val1628Leu)
c.*50G>C (n.*50G>C)
n.5124G>C
c.5509G>C (p.Val1837Leu)
c.5446G>C (p.Val1816Leu)
c.5437G>C (p.Val1813Leu)
c.5047G>C (p.Val1683Leu)
c.4906G>C (p.Val1636Leu)
c.5338G>C (p.Val1780Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.41668392C>TCA371051394ANK1c.5392G>A (p.Val1798Ile)
c.5488G>A (p.Val1830Ile)
c.5305G>A (p.Val1769Ile)
c.5269G>A (p.Val1757Ile)
c.1283G>A
c.841G>A
c.2747G>A
n.2663G>A
c.4783G>A (p.Val1595Ile)
c.5533G>A (p.Val1845Ile)
c.5434G>A (p.Val1812Ile)
c.5368G>A (p.Val1790Ile)
c.5350G>A (p.Val1784Ile)
c.5002G>A (p.Val1668Ile)
c.4882G>A (p.Val1628Ile)
c.*50G>A (n.*50G>A)
n.5124G>A
c.5509G>A (p.Val1837Ile)
c.5446G>A (p.Val1816Ile)
c.5437G>A (p.Val1813Ile)
c.5047G>A (p.Val1683Ile)
c.4906G>A (p.Val1636Ile)
c.5338G>A (p.Val1780Ile)
8g.41668393A=CA1779071131ANK1c.5391T= (p.Ser1797=)
c.5487T= (p.Ser1829=)
c.5304T= (p.Ser1768=)
c.5268T= (p.Ser1756=)
c.1282T=
c.840T=
c.2746T=
n.2662T=
c.4782T= (p.Ser1594=)
c.5532T= (p.Ser1844=)
c.5433T= (p.Ser1811=)
c.5367T= (p.Ser1789=)
c.5349T= (p.Ser1783=)
c.5001T= (p.Ser1667=)
c.4881T= (p.Ser1627=)
c.*49T= (n.*49T=)
n.5123T=
c.5508T= (p.Ser1836=)
c.5445T= (p.Ser1815=)
c.5436T= (p.Ser1812=)
c.5046T= (p.Ser1682=)
c.4905T= (p.Ser1635=)
c.5337T= (p.Ser1779=)
8g.41668393A>CCA460782033ANK1c.5391T>G (p.Ser1797=)
c.5487T>G (p.Ser1829=)
c.5304T>G (p.Ser1768=)
c.5268T>G (p.Ser1756=)
c.1282T>G
c.840T>G
c.2746T>G
n.2662T>G
c.4782T>G (p.Ser1594=)
c.5532T>G (p.Ser1844=)
c.5433T>G (p.Ser1811=)
c.5367T>G (p.Ser1789=)
c.5349T>G (p.Ser1783=)
c.5001T>G (p.Ser1667=)
c.4881T>G (p.Ser1627=)
c.*49T>G (n.*49T>G)
n.5123T>G
c.5508T>G (p.Ser1836=)
c.5445T>G (p.Ser1815=)
c.5436T>G (p.Ser1812=)
c.5046T>G (p.Ser1682=)
c.4905T>G (p.Ser1635=)
c.5337T>G (p.Ser1779=)
8g.41668393A>GCA460782034ANK1c.5391T>C (p.Ser1797=)
c.5487T>C (p.Ser1829=)
c.5304T>C (p.Ser1768=)
c.5268T>C (p.Ser1756=)
c.1282T>C
c.840T>C
c.2746T>C
n.2662T>C
c.4782T>C (p.Ser1594=)
c.5532T>C (p.Ser1844=)
c.5433T>C (p.Ser1811=)
c.5367T>C (p.Ser1789=)
c.5349T>C (p.Ser1783=)
c.5001T>C (p.Ser1667=)
c.4881T>C (p.Ser1627=)
c.*49T>C (n.*49T>C)
n.5123T>C
c.5508T>C (p.Ser1836=)
c.5445T>C (p.Ser1815=)
c.5436T>C (p.Ser1812=)
c.5046T>C (p.Ser1682=)
c.4905T>C (p.Ser1635=)
c.5337T>C (p.Ser1779=)
 dbSNP
8g.41668393A>TCA460782035ANK1c.5391T>A (p.Ser1797=)
c.5487T>A (p.Ser1829=)
c.5304T>A (p.Ser1768=)
c.5268T>A (p.Ser1756=)
c.1282T>A
c.840T>A
c.2746T>A
n.2662T>A
c.4782T>A (p.Ser1594=)
c.5532T>A (p.Ser1844=)
c.5433T>A (p.Ser1811=)
c.5367T>A (p.Ser1789=)
c.5349T>A (p.Ser1783=)
c.5001T>A (p.Ser1667=)
c.4881T>A (p.Ser1627=)
c.*49T>A (n.*49T>A)
n.5123T>A
c.5508T>A (p.Ser1836=)
c.5445T>A (p.Ser1815=)
c.5436T>A (p.Ser1812=)
c.5046T>A (p.Ser1682=)
c.4905T>A (p.Ser1635=)
c.5337T>A (p.Ser1779=)
8g.41668394G>ACA371051397ANK1c.5390C>T (p.Ser1797Phe)
c.5486C>T (p.Ser1829Phe)
c.5303C>T (p.Ser1768Phe)
c.5267C>T (p.Ser1756Phe)
c.1281C>T
c.839C>T
c.2745C>T
n.2661C>T
c.4781C>T (p.Ser1594Phe)
c.5531C>T (p.Ser1844Phe)
c.5432C>T (p.Ser1811Phe)
c.5366C>T (p.Ser1789Phe)
c.5348C>T (p.Ser1783Phe)
c.5000C>T (p.Ser1667Phe)
c.4880C>T (p.Ser1627Phe)
c.*48C>T (n.*48C>T)
n.5122C>T
c.5507C>T (p.Ser1836Phe)
c.5444C>T (p.Ser1815Phe)
c.5435C>T (p.Ser1812Phe)
c.5045C>T (p.Ser1682Phe)
c.4904C>T (p.Ser1635Phe)
c.5336C>T (p.Ser1779Phe)
8g.41668394G>CCA371051396ANK1c.5390C>G (p.Ser1797Cys)
c.5486C>G (p.Ser1829Cys)
c.5303C>G (p.Ser1768Cys)
c.5267C>G (p.Ser1756Cys)
c.1281C>G
c.839C>G
c.2745C>G
n.2661C>G
c.4781C>G (p.Ser1594Cys)
c.5531C>G (p.Ser1844Cys)
c.5432C>G (p.Ser1811Cys)
c.5366C>G (p.Ser1789Cys)
c.5348C>G (p.Ser1783Cys)
c.5000C>G (p.Ser1667Cys)
c.4880C>G (p.Ser1627Cys)
c.*48C>G (n.*48C>G)
n.5122C>G
c.5507C>G (p.Ser1836Cys)
c.5444C>G (p.Ser1815Cys)
c.5435C>G (p.Ser1812Cys)
c.5045C>G (p.Ser1682Cys)
c.4904C>G (p.Ser1635Cys)
c.5336C>G (p.Ser1779Cys)
8g.41668394G>TCA371051395ANK1c.5390C>A (p.Ser1797Tyr)
c.5486C>A (p.Ser1829Tyr)
c.5303C>A (p.Ser1768Tyr)
c.5267C>A (p.Ser1756Tyr)
c.1281C>A
c.839C>A
c.2745C>A
n.2661C>A
c.4781C>A (p.Ser1594Tyr)
c.5531C>A (p.Ser1844Tyr)
c.5432C>A (p.Ser1811Tyr)
c.5366C>A (p.Ser1789Tyr)
c.5348C>A (p.Ser1783Tyr)
c.5000C>A (p.Ser1667Tyr)
c.4880C>A (p.Ser1627Tyr)
c.*48C>A (n.*48C>A)
n.5122C>A
c.5507C>A (p.Ser1836Tyr)
c.5444C>A (p.Ser1815Tyr)
c.5435C>A (p.Ser1812Tyr)
c.5045C>A (p.Ser1682Tyr)
c.4904C>A (p.Ser1635Tyr)
c.5336C>A (p.Ser1779Tyr)
8g.41668395A>CCA371051398ANK1c.5389T>G (p.Ser1797Ala)
c.5485T>G (p.Ser1829Ala)
c.5302T>G (p.Ser1768Ala)
c.5266T>G (p.Ser1756Ala)
c.1280T>G
c.838T>G
c.2744T>G
n.2660T>G
c.4780T>G (p.Ser1594Ala)
c.5530T>G (p.Ser1844Ala)
c.5431T>G (p.Ser1811Ala)
c.5365T>G (p.Ser1789Ala)
c.5347T>G (p.Ser1783Ala)
c.4999T>G (p.Ser1667Ala)
c.4879T>G (p.Ser1627Ala)
c.*47T>G (n.*47T>G)
n.5121T>G
c.5506T>G (p.Ser1836Ala)
c.5443T>G (p.Ser1815Ala)
c.5434T>G (p.Ser1812Ala)
c.5044T>G (p.Ser1682Ala)
c.4903T>G (p.Ser1635Ala)
c.5335T>G (p.Ser1779Ala)
 COSMIC COSMIC
8g.41668395A>GCA371051399ANK1c.5389T>C (p.Ser1797Pro)
c.5485T>C (p.Ser1829Pro)
c.5302T>C (p.Ser1768Pro)
c.5266T>C (p.Ser1756Pro)
c.1280T>C
c.838T>C
c.2744T>C
n.2660T>C
c.4780T>C (p.Ser1594Pro)
c.5530T>C (p.Ser1844Pro)
c.5431T>C (p.Ser1811Pro)
c.5365T>C (p.Ser1789Pro)
c.5347T>C (p.Ser1783Pro)
c.4999T>C (p.Ser1667Pro)
c.4879T>C (p.Ser1627Pro)
c.*47T>C (n.*47T>C)
n.5121T>C
c.5506T>C (p.Ser1836Pro)
c.5443T>C (p.Ser1815Pro)
c.5434T>C (p.Ser1812Pro)
c.5044T>C (p.Ser1682Pro)
c.4903T>C (p.Ser1635Pro)
c.5335T>C (p.Ser1779Pro)
8g.41668395A>TCA371051400ANK1c.5389T>A (p.Ser1797Thr)
c.5485T>A (p.Ser1829Thr)
c.5302T>A (p.Ser1768Thr)
c.5266T>A (p.Ser1756Thr)
c.1280T>A
c.838T>A
c.2744T>A
n.2660T>A
c.4780T>A (p.Ser1594Thr)
c.5530T>A (p.Ser1844Thr)
c.5431T>A (p.Ser1811Thr)
c.5365T>A (p.Ser1789Thr)
c.5347T>A (p.Ser1783Thr)
c.4999T>A (p.Ser1667Thr)
c.4879T>A (p.Ser1627Thr)
c.*47T>A (n.*47T>A)
n.5121T>A
c.5506T>A (p.Ser1836Thr)
c.5443T>A (p.Ser1815Thr)
c.5434T>A (p.Ser1812Thr)
c.5044T>A (p.Ser1682Thr)
c.4903T>A (p.Ser1635Thr)
c.5335T>A (p.Ser1779Thr)
8g.41668396C>ACA460782036ANK1c.5388G>T (p.Val1796=)
c.5484G>T (p.Val1828=)
c.5301G>T (p.Val1767=)
c.5265G>T (p.Val1755=)
c.1279G>T
c.837G>T
c.2743G>T
n.2659G>T
c.4779G>T (p.Val1593=)
c.5529G>T (p.Val1843=)
c.5430G>T (p.Val1810=)
c.5364G>T (p.Val1788=)
c.5346G>T (p.Val1782=)
c.4998G>T (p.Val1666=)
c.4878G>T (p.Val1626=)
c.*46G>T (n.*46G>T)
n.5120G>T
c.5505G>T (p.Val1835=)
c.5442G>T (p.Val1814=)
c.5433G>T (p.Val1811=)
c.5043G>T (p.Val1681=)
c.4902G>T (p.Val1634=)
c.5334G>T (p.Val1778=)
8g.41668396C=CA1779071135ANK1c.5388G= (p.Val1796=)
c.5484G= (p.Val1828=)
c.5301G= (p.Val1767=)
c.5265G= (p.Val1755=)
c.1279G=
c.837G=
c.2743G=
n.2659G=
c.4779G= (p.Val1593=)
c.5529G= (p.Val1843=)
c.5430G= (p.Val1810=)
c.5364G= (p.Val1788=)
c.5346G= (p.Val1782=)
c.4998G= (p.Val1666=)
c.4878G= (p.Val1626=)
c.*46G= (n.*46G=)
n.5120G=
c.5505G= (p.Val1835=)
c.5442G= (p.Val1814=)
c.5433G= (p.Val1811=)
c.5043G= (p.Val1681=)
c.4902G= (p.Val1634=)
c.5334G= (p.Val1778=)
8g.41668396C>GCA460782037ANK1c.5388G>C (p.Val1796=)
c.5484G>C (p.Val1828=)
c.5301G>C (p.Val1767=)
c.5265G>C (p.Val1755=)
c.1279G>C
c.837G>C
c.2743G>C
n.2659G>C
c.4779G>C (p.Val1593=)
c.5529G>C (p.Val1843=)
c.5430G>C (p.Val1810=)
c.5364G>C (p.Val1788=)
c.5346G>C (p.Val1782=)
c.4998G>C (p.Val1666=)
c.4878G>C (p.Val1626=)
c.*46G>C (n.*46G>C)
n.5120G>C
c.5505G>C (p.Val1835=)
c.5442G>C (p.Val1814=)
c.5433G>C (p.Val1811=)
c.5043G>C (p.Val1681=)
c.4902G>C (p.Val1634=)
c.5334G>C (p.Val1778=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.41668396C>TCA4727336ANK1c.5388G>A (p.Val1796=)
c.5484G>A (p.Val1828=)
c.5301G>A (p.Val1767=)
c.5265G>A (p.Val1755=)
c.1279G>A
c.837G>A
c.2743G>A
n.2659G>A
c.4779G>A (p.Val1593=)
c.5529G>A (p.Val1843=)
c.5430G>A (p.Val1810=)
c.5364G>A (p.Val1788=)
c.5346G>A (p.Val1782=)
c.4998G>A (p.Val1666=)
c.4878G>A (p.Val1626=)
c.*46G>A (n.*46G>A)
n.5120G>A
c.5505G>A (p.Val1835=)
c.5442G>A (p.Val1814=)
c.5433G>A (p.Val1811=)
c.5043G>A (p.Val1681=)
c.4902G>A (p.Val1634=)
c.5334G>A (p.Val1778=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41668397A=CA1779071142ANK1c.5387T= (p.Val1796=)
c.5483T= (p.Val1828=)
c.5300T= (p.Val1767=)
c.5264T= (p.Val1755=)
c.1278T=
c.836T=
c.2742T=
n.2658T=
c.4778T= (p.Val1593=)
c.5528T= (p.Val1843=)
c.5429T= (p.Val1810=)
c.5363T= (p.Val1788=)
c.5345T= (p.Val1782=)
c.4997T= (p.Val1666=)
c.4877T= (p.Val1626=)
c.*45T= (n.*45T=)
n.5119T=
c.5504T= (p.Val1835=)
c.5441T= (p.Val1814=)
c.5432T= (p.Val1811=)
c.5042T= (p.Val1681=)
c.4901T= (p.Val1634=)
c.5333T= (p.Val1778=)
8g.41668397A>CCA371051401ANK1c.5387T>G (p.Val1796Gly)
c.5483T>G (p.Val1828Gly)
c.5300T>G (p.Val1767Gly)
c.5264T>G (p.Val1755Gly)
c.1278T>G
c.836T>G
c.2742T>G
n.2658T>G
c.4778T>G (p.Val1593Gly)
c.5528T>G (p.Val1843Gly)
c.5429T>G (p.Val1810Gly)
c.5363T>G (p.Val1788Gly)
c.5345T>G (p.Val1782Gly)
c.4997T>G (p.Val1666Gly)
c.4877T>G (p.Val1626Gly)
c.*45T>G (n.*45T>G)
n.5119T>G
c.5504T>G (p.Val1835Gly)
c.5441T>G (p.Val1814Gly)
c.5432T>G (p.Val1811Gly)
c.5042T>G (p.Val1681Gly)
c.4901T>G (p.Val1634Gly)
c.5333T>G (p.Val1778Gly)
8g.41668397A>GCA371051402ANK1c.5387T>C (p.Val1796Ala)
c.5483T>C (p.Val1828Ala)
c.5300T>C (p.Val1767Ala)
c.5264T>C (p.Val1755Ala)
c.1278T>C
c.836T>C
c.2742T>C
n.2658T>C
c.4778T>C (p.Val1593Ala)
c.5528T>C (p.Val1843Ala)
c.5429T>C (p.Val1810Ala)
c.5363T>C (p.Val1788Ala)
c.5345T>C (p.Val1782Ala)
c.4997T>C (p.Val1666Ala)
c.4877T>C (p.Val1626Ala)
c.*45T>C (n.*45T>C)
n.5119T>C
c.5504T>C (p.Val1835Ala)
c.5441T>C (p.Val1814Ala)
c.5432T>C (p.Val1811Ala)
c.5042T>C (p.Val1681Ala)
c.4901T>C (p.Val1634Ala)
c.5333T>C (p.Val1778Ala)
 dbSNP gnomAD v4
8g.41668397A>TCA371051403ANK1c.5387T>A (p.Val1796Glu)
c.5483T>A (p.Val1828Glu)
c.5300T>A (p.Val1767Glu)
c.5264T>A (p.Val1755Glu)
c.1278T>A
c.836T>A
c.2742T>A
n.2658T>A
c.4778T>A (p.Val1593Glu)
c.5528T>A (p.Val1843Glu)
c.5429T>A (p.Val1810Glu)
c.5363T>A (p.Val1788Glu)
c.5345T>A (p.Val1782Glu)
c.4997T>A (p.Val1666Glu)
c.4877T>A (p.Val1626Glu)
c.*45T>A (n.*45T>A)
n.5119T>A
c.5504T>A (p.Val1835Glu)
c.5441T>A (p.Val1814Glu)
c.5432T>A (p.Val1811Glu)
c.5042T>A (p.Val1681Glu)
c.4901T>A (p.Val1634Glu)
c.5333T>A (p.Val1778Glu)
8g.41668398C>ACA371051404ANK1c.5386G>T (p.Val1796Leu)
c.5482G>T (p.Val1828Leu)
c.5299G>T (p.Val1767Leu)
c.5263G>T (p.Val1755Leu)
c.1277G>T
c.835G>T
c.2741G>T
n.2657G>T
c.4777G>T (p.Val1593Leu)
c.5527G>T (p.Val1843Leu)
c.5428G>T (p.Val1810Leu)
c.5362G>T (p.Val1788Leu)
c.5344G>T (p.Val1782Leu)
c.4996G>T (p.Val1666Leu)
c.4876G>T (p.Val1626Leu)
c.*44G>T (n.*44G>T)
n.5118G>T
c.5503G>T (p.Val1835Leu)
c.5440G>T (p.Val1814Leu)
c.5431G>T (p.Val1811Leu)
c.5041G>T (p.Val1681Leu)
c.4900G>T (p.Val1634Leu)
c.5332G>T (p.Val1778Leu)
8g.41668398C>GCA371051405ANK1c.5386G>C (p.Val1796Leu)
c.5482G>C (p.Val1828Leu)
c.5299G>C (p.Val1767Leu)
c.5263G>C (p.Val1755Leu)
c.1277G>C
c.835G>C
c.2741G>C
n.2657G>C
c.4777G>C (p.Val1593Leu)
c.5527G>C (p.Val1843Leu)
c.5428G>C (p.Val1810Leu)
c.5362G>C (p.Val1788Leu)
c.5344G>C (p.Val1782Leu)
c.4996G>C (p.Val1666Leu)
c.4876G>C (p.Val1626Leu)
c.*44G>C (n.*44G>C)
n.5118G>C
c.5503G>C (p.Val1835Leu)
c.5440G>C (p.Val1814Leu)
c.5431G>C (p.Val1811Leu)
c.5041G>C (p.Val1681Leu)
c.4900G>C (p.Val1634Leu)
c.5332G>C (p.Val1778Leu)
8g.41668398C>TCA371051406ANK1c.5386G>A (p.Val1796Met)
c.5482G>A (p.Val1828Met)
c.5299G>A (p.Val1767Met)
c.5263G>A (p.Val1755Met)
c.1277G>A
c.835G>A
c.2741G>A
n.2657G>A
c.4777G>A (p.Val1593Met)
c.5527G>A (p.Val1843Met)
c.5428G>A (p.Val1810Met)
c.5362G>A (p.Val1788Met)
c.5344G>A (p.Val1782Met)
c.4996G>A (p.Val1666Met)
c.4876G>A (p.Val1626Met)
c.*44G>A (n.*44G>A)
n.5118G>A
c.5503G>A (p.Val1835Met)
c.5440G>A (p.Val1814Met)
c.5431G>A (p.Val1811Met)
c.5041G>A (p.Val1681Met)
c.4900G>A (p.Val1634Met)
c.5332G>A (p.Val1778Met)
 gnomAD v4
8g.41668399C>ACA460782040ANK1c.5385G>T (p.Leu1795=)
c.5481G>T (p.Leu1827=)
c.5298G>T (p.Leu1766=)
c.5262G>T (p.Leu1754=)
c.1276G>T
c.834G>T
c.2740G>T
n.2656G>T
c.4776G>T (p.Leu1592=)
c.5526G>T (p.Leu1842=)
c.5427G>T (p.Leu1809=)
c.5361G>T (p.Leu1787=)
c.5343G>T (p.Leu1781=)
c.4995G>T (p.Leu1665=)
c.4875G>T (p.Leu1625=)
c.*43G>T (n.*43G>T)
n.5117G>T
c.5502G>T (p.Leu1834=)
c.5439G>T (p.Leu1813=)
c.5430G>T (p.Leu1810=)
c.5040G>T (p.Leu1680=)
c.4899G>T (p.Leu1633=)
c.5331G>T (p.Leu1777=)
8g.41668399C=CA1779071145ANK1c.5385G= (p.Leu1795=)
c.5481G= (p.Leu1827=)
c.5298G= (p.Leu1766=)
c.5262G= (p.Leu1754=)
c.1276G=
c.834G=
c.2740G=
n.2656G=
c.4776G= (p.Leu1592=)
c.5526G= (p.Leu1842=)
c.5427G= (p.Leu1809=)
c.5361G= (p.Leu1787=)
c.5343G= (p.Leu1781=)
c.4995G= (p.Leu1665=)
c.4875G= (p.Leu1625=)
c.*43G= (n.*43G=)
n.5117G=
c.5502G= (p.Leu1834=)
c.5439G= (p.Leu1813=)
c.5430G= (p.Leu1810=)
c.5040G= (p.Leu1680=)
c.4899G= (p.Leu1633=)
c.5331G= (p.Leu1777=)
8g.41668399C>GCA460782038ANK1c.5385G>C (p.Leu1795=)
c.5481G>C (p.Leu1827=)
c.5298G>C (p.Leu1766=)
c.5262G>C (p.Leu1754=)
c.1276G>C
c.834G>C
c.2740G>C
n.2656G>C
c.4776G>C (p.Leu1592=)
c.5526G>C (p.Leu1842=)
c.5427G>C (p.Leu1809=)
c.5361G>C (p.Leu1787=)
c.5343G>C (p.Leu1781=)
c.4995G>C (p.Leu1665=)
c.4875G>C (p.Leu1625=)
c.*43G>C (n.*43G>C)
n.5117G>C
c.5502G>C (p.Leu1834=)
c.5439G>C (p.Leu1813=)
c.5430G>C (p.Leu1810=)
c.5040G>C (p.Leu1680=)
c.4899G>C (p.Leu1633=)
c.5331G>C (p.Leu1777=)
8g.41668399C>TCA460782039ANK1c.5385G>A (p.Leu1795=)
c.5481G>A (p.Leu1827=)
c.5298G>A (p.Leu1766=)
c.5262G>A (p.Leu1754=)
c.1276G>A
c.834G>A
c.2740G>A
n.2656G>A
c.4776G>A (p.Leu1592=)
c.5526G>A (p.Leu1842=)
c.5427G>A (p.Leu1809=)
c.5361G>A (p.Leu1787=)
c.5343G>A (p.Leu1781=)
c.4995G>A (p.Leu1665=)
c.4875G>A (p.Leu1625=)
c.*43G>A (n.*43G>A)
n.5117G>A
c.5502G>A (p.Leu1834=)
c.5439G>A (p.Leu1813=)
c.5430G>A (p.Leu1810=)
c.5040G>A (p.Leu1680=)
c.4899G>A (p.Leu1633=)
c.5331G>A (p.Leu1777=)
 dbSNP gnomAD v3 gnomAD v4
8g.41668400A>CCA371051407ANK1c.5384T>G (p.Leu1795Arg)
c.5480T>G (p.Leu1827Arg)
c.5297T>G (p.Leu1766Arg)
c.5261T>G (p.Leu1754Arg)
c.1275T>G
c.833T>G
c.2739T>G
n.2655T>G
c.4775T>G (p.Leu1592Arg)
c.5525T>G (p.Leu1842Arg)
c.5426T>G (p.Leu1809Arg)
c.5360T>G (p.Leu1787Arg)
c.5342T>G (p.Leu1781Arg)
c.4994T>G (p.Leu1665Arg)
c.4874T>G (p.Leu1625Arg)
c.*42T>G (n.*42T>G)
n.5116T>G
c.5501T>G (p.Leu1834Arg)
c.5438T>G (p.Leu1813Arg)
c.5429T>G (p.Leu1810Arg)
c.5039T>G (p.Leu1680Arg)
c.4898T>G (p.Leu1633Arg)
c.5330T>G (p.Leu1777Arg)
8g.41668400A>GCA371051408ANK1c.5384T>C (p.Leu1795Pro)
c.5480T>C (p.Leu1827Pro)
c.5297T>C (p.Leu1766Pro)
c.5261T>C (p.Leu1754Pro)
c.1275T>C
c.833T>C
c.2739T>C
n.2655T>C
c.4775T>C (p.Leu1592Pro)
c.5525T>C (p.Leu1842Pro)
c.5426T>C (p.Leu1809Pro)
c.5360T>C (p.Leu1787Pro)
c.5342T>C (p.Leu1781Pro)
c.4994T>C (p.Leu1665Pro)
c.4874T>C (p.Leu1625Pro)
c.*42T>C (n.*42T>C)
n.5116T>C
c.5501T>C (p.Leu1834Pro)
c.5438T>C (p.Leu1813Pro)
c.5429T>C (p.Leu1810Pro)
c.5039T>C (p.Leu1680Pro)
c.4898T>C (p.Leu1633Pro)
c.5330T>C (p.Leu1777Pro)
 gnomAD v4
8g.41668400A>TCA371051409ANK1c.5384T>A (p.Leu1795Gln)
c.5480T>A (p.Leu1827Gln)
c.5297T>A (p.Leu1766Gln)
c.5261T>A (p.Leu1754Gln)
c.1275T>A
c.833T>A
c.2739T>A
n.2655T>A
c.4775T>A (p.Leu1592Gln)
c.5525T>A (p.Leu1842Gln)
c.5426T>A (p.Leu1809Gln)
c.5360T>A (p.Leu1787Gln)
c.5342T>A (p.Leu1781Gln)
c.4994T>A (p.Leu1665Gln)
c.4874T>A (p.Leu1625Gln)
c.*42T>A (n.*42T>A)
n.5116T>A
c.5501T>A (p.Leu1834Gln)
c.5438T>A (p.Leu1813Gln)
c.5429T>A (p.Leu1810Gln)
c.5039T>A (p.Leu1680Gln)
c.4898T>A (p.Leu1633Gln)
c.5330T>A (p.Leu1777Gln)
8g.41668400_41668401delinsAGCA1779071149ANK1c.5383_5384delinsCT (p.Leu1795=)
c.5479_5480delinsCT (p.Leu1827=)
c.5296_5297delinsCT (p.Leu1766=)
c.5260_5261delinsCT (p.Leu1754=)
c.1274_1275delinsCT
c.832_833delinsCT
c.2738_2739delinsCT
n.2654_2655delinsCT
c.4774_4775delinsCT (p.Leu1592=)
c.5524_5525delinsCT (p.Leu1842=)
c.5425_5426delinsCT (p.Leu1809=)
c.5359_5360delinsCT (p.Leu1787=)
c.5341_5342delinsCT (p.Leu1781=)
c.4993_4994delinsCT (p.Leu1665=)
c.4873_4874delinsCT (p.Leu1625=)
c.*41_*42delinsCT (n.*41_*42delinsCT)
n.5115_5116delinsCT
c.5500_5501delinsCT (p.Leu1834=)
c.5437_5438delinsCT (p.Leu1813=)
c.5428_5429delinsCT (p.Leu1810=)
c.5038_5039delinsCT (p.Leu1680=)
c.4897_4898delinsCT (p.Leu1633=)
c.5329_5330delinsCT (p.Leu1777=)
8g.41668401G>ACA460782041ANK1c.5383C>T (p.Leu1795=)
c.5479C>T (p.Leu1827=)
c.5296C>T (p.Leu1766=)
c.5260C>T (p.Leu1754=)
c.1274C>T
c.832C>T
c.2738C>T
n.2654C>T
c.4774C>T (p.Leu1592=)
c.5524C>T (p.Leu1842=)
c.5425C>T (p.Leu1809=)
c.5359C>T (p.Leu1787=)
c.5341C>T (p.Leu1781=)
c.4993C>T (p.Leu1665=)
c.4873C>T (p.Leu1625=)
c.*41C>T (n.*41C>T)
n.5115C>T
c.5500C>T (p.Leu1834=)
c.5437C>T (p.Leu1813=)
c.5428C>T (p.Leu1810=)
c.5038C>T (p.Leu1680=)
c.4897C>T (p.Leu1633=)
c.5329C>T (p.Leu1777=)
 dbSNP
8g.41668401G>CCA371051410ANK1c.5383C>G (p.Leu1795Val)
c.5479C>G (p.Leu1827Val)
c.5296C>G (p.Leu1766Val)
c.5260C>G (p.Leu1754Val)
c.1274C>G
c.832C>G
c.2738C>G
n.2654C>G
c.4774C>G (p.Leu1592Val)
c.5524C>G (p.Leu1842Val)
c.5425C>G (p.Leu1809Val)
c.5359C>G (p.Leu1787Val)
c.5341C>G (p.Leu1781Val)
c.4993C>G (p.Leu1665Val)
c.4873C>G (p.Leu1625Val)
c.*41C>G (n.*41C>G)
n.5115C>G
c.5500C>G (p.Leu1834Val)
c.5437C>G (p.Leu1813Val)
c.5428C>G (p.Leu1810Val)
c.5038C>G (p.Leu1680Val)
c.4897C>G (p.Leu1633Val)
c.5329C>G (p.Leu1777Val)
8g.41668401G=CA1779071152ANK1c.5383C= (p.Leu1795=)
c.5479C= (p.Leu1827=)
c.5296C= (p.Leu1766=)
c.5260C= (p.Leu1754=)
c.1274C=
c.832C=
c.2738C=
n.2654C=
c.4774C= (p.Leu1592=)
c.5524C= (p.Leu1842=)
c.5425C= (p.Leu1809=)
c.5359C= (p.Leu1787=)
c.5341C= (p.Leu1781=)
c.4993C= (p.Leu1665=)
c.4873C= (p.Leu1625=)
c.*41C= (n.*41C=)
n.5115C=
c.5500C= (p.Leu1834=)
c.5437C= (p.Leu1813=)
c.5428C= (p.Leu1810=)
c.5038C= (p.Leu1680=)
c.4897C= (p.Leu1633=)
c.5329C= (p.Leu1777=)
8g.41668401G>TCA371051411ANK1c.5383C>A (p.Leu1795Met)
c.5479C>A (p.Leu1827Met)
c.5296C>A (p.Leu1766Met)
c.5260C>A (p.Leu1754Met)
c.1274C>A
c.832C>A
c.2738C>A
n.2654C>A
c.4774C>A (p.Leu1592Met)
c.5524C>A (p.Leu1842Met)
c.5425C>A (p.Leu1809Met)
c.5359C>A (p.Leu1787Met)
c.5341C>A (p.Leu1781Met)
c.4993C>A (p.Leu1665Met)
c.4873C>A (p.Leu1625Met)
c.*41C>A (n.*41C>A)
n.5115C>A
c.5500C>A (p.Leu1834Met)
c.5437C>A (p.Leu1813Met)
c.5428C>A (p.Leu1810Met)
c.5038C>A (p.Leu1680Met)
c.4897C>A (p.Leu1633Met)
c.5329C>A (p.Leu1777Met)
8g.41668402delCA1779071154ANK1c.5383del (p.Leu1795TrpfsTer4)
c.5479del (p.Leu1827TrpfsTer4)
c.5296del (p.Leu1766TrpfsTer4)
c.5260del (p.Leu1754TrpfsTer4)
c.1274del
c.832del
c.2738del
n.2654del
c.4774del (p.Leu1592TrpfsTer4)
c.5524del (p.Leu1842TrpfsTer4)
c.5425del (p.Leu1809TrpfsTer4)
c.5359del (p.Leu1787TrpfsTer4)
c.5341del (p.Leu1781TrpfsTer4)
c.4993del (p.Leu1665TrpfsTer4)
c.4873del (p.Leu1625TrpfsTer4)
c.*41del (n.*41del)
n.5115del
c.5500del (p.Leu1834TrpfsTer4)
c.5437del (p.Leu1813TrpfsTer4)
c.5428del (p.Leu1810TrpfsTer4)
c.5038del (p.Leu1680TrpfsTer4)
c.4897del (p.Leu1633TrpfsTer4)
c.5329del (p.Leu1777TrpfsTer4)
 ClinVar dbSNP

Number of alleles fetched