Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.41668303C>A | CA460781990 | ANK1 | c.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=) | |
8 | g.41668303C= | CA1779071014 | ANK1 | c.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=) | |
8 | g.41668303C>G | CA460781991 | ANK1 | c.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=) | |
8 | g.41668303C>T | CA460781992 | ANK1 | c.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 |
8 | g.41668304A>C | CA371051016 | ANK1 | c.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) | |
8 | g.41668304A>G | CA371051018 | ANK1 | c.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) | |
8 | g.41668304A>T | CA371051014 | ANK1 | c.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) | |
8 | g.41668305C>A | CA371051021 | ANK1 | c.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) | |
8 | g.41668305C>G | CA371051024 | ANK1 | c.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) | |
8 | g.41668305C>T | CA371051022 | ANK1 | c.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) | |
8 | g.41668306C>A | CA371051027 | ANK1 | c.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 |
8 | g.41668306C= | CA1779071017 | ANK1 | c.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=) | |
8 | g.41668306C>G | CA371051030 | ANK1 | c.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) | |
8 | g.41668306C>T | CA460781993 | ANK1 | c.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=) | |
8 | g.41668307T>A | CA371051033 | ANK1 | c.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) | |
8 | g.41668307T>C | CA371051035 | ANK1 | c.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 |
8 | g.41668307T>G | CA371051037 | ANK1 | c.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) | |
8 | g.41668308G>A | CA371051041 | ANK1 | c.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) | |
8 | g.41668308G>C | CA371051043 | ANK1 | c.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 |
8 | g.41668308G= | CA1779071020 | ANK1 | c.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=) | |
8 | g.41668308G>T | CA371051045 | ANK1 | c.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) | |
8 | g.41668309C>A | CA371051048 | ANK1 | c.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) | |
8 | g.41668309C= | CA1779071024 | ANK1 | c.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=) | |
8 | g.41668309C>G | CA371051050 | ANK1 | c.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) | |
8 | g.41668309C>T | CA460781994 | ANK1 | c.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 |
8 | g.41668310T>A | CA371051053 | ANK1 | c.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) | |
8 | g.41668310T>C | CA371051055 | ANK1 | c.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) | |
8 | g.41668310T>G | CA371051057 | ANK1 | c.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) | |
8 | g.41668311C>A | CA371051061 | ANK1 | c.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) | |
8 | g.41668311C= | CA1779071025 | ANK1 | c.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=) | |
8 | g.41668311C>G | CA371051066 | ANK1 | c.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) | |
8 | g.41668311C>T | CA371051063 | ANK1 | c.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 |
8 | g.41668312T>A | CA371051069 | ANK1 | c.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) | |
8 | g.41668312T>C | CA460781995 | ANK1 | c.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=) | |
8 | g.41668312T>G | CA371051071 | ANK1 | c.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) | |
8 | g.41668313T>A | CA371051074 | ANK1 | c.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) | |
8 | g.41668313T>C | CA371051077 | ANK1 | c.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 |
8 | g.41668313T>G | CA371051078 | ANK1 | c.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) | |
8 | g.41668314C>A | CA371051081 | ANK1 | c.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) | |
8 | g.41668314C>G | CA371051083 | ANK1 | c.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) | |
8 | g.41668314C>T | CA371051085 | ANK1 | c.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) | |
8 | g.41668315T>A | CA371051088 | ANK1 | c.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) | |
8 | g.41668315T>C | CA460781996 | ANK1 | c.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=) | |
8 | g.41668315T>G | CA371051090 | ANK1 | c.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) | |
8 | g.41668316T>A | CA371051096 | ANK1 | c.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) | |
8 | g.41668316T>C | CA4727311 | ANK1 | c.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 |
8 | g.41668316T>G | CA371051093 | ANK1 | c.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) | |
8 | g.41668316T= | CA1779071026 | ANK1 | c.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=) | |
8 | g.41668317G>A | CA371051100 | ANK1 | c.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 |
8 | g.41668317G>C | CA371051102 | ANK1 | c.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) | |
8 | g.41668317G>T | CA371051104 | ANK1 | c.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) | |
8 | g.41668318G>A | CA460781997 | ANK1 | c.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=) | |
8 | g.41668318G>C | CA460781998 | ANK1 | c.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=) | |
8 | g.41668318G>T | CA460781999 | ANK1 | c.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 |
8 | g.41668319C>A | CA371051107 | ANK1 | c.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 |
8 | g.41668319C= | CA1779071027 | ANK1 | c.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=) | |
8 | g.41668319C>G | CA371051108 | ANK1 | c.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 |
8 | g.41668319C>T | CA4727312 | ANK1 | c.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 |
8 | g.41668320C>A | CA371051115 | ANK1 | c.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 |
8 | g.41668320C= | CA1779071031 | ANK1 | c.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=) | |
8 | g.41668320C>G | CA371051112 | ANK1 | c.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) | |
8 | g.41668320C>T | CA4727313 | ANK1 | c.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 |
8 | g.41668321T>A | CA371051119 | ANK1 | c.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) | |
8 | g.41668321T>C | CA460782000 | ANK1 | c.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=) | |
8 | g.41668321T>G | CA371051121 | ANK1 | c.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) | |
8 | g.41668322T>A | CA371051124 | ANK1 | c.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) | |
8 | g.41668322T>C | CA371051126 | ANK1 | c.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) | |
8 | g.41668322T>G | CA371051128 | ANK1 | c.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) | |
8 | g.41668323G>A | CA371051131 | ANK1 | c.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) | |
8 | g.41668323G>C | CA371051135 | ANK1 | c.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) | |
8 | g.41668323G>T | CA371051133 | ANK1 | c.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) | |
8 | g.41668324C>A | CA371051138 | ANK1 | c.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) | |
8 | g.41668324C>G | CA371051140 | ANK1 | c.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) | |
8 | g.41668324C>T | CA460782001 | ANK1 | c.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=) | |
8 | g.41668325T>A | CA371051143 | ANK1 | c.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) | |
8 | g.41668325T>C | CA371051146 | ANK1 | c.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) | |
8 | g.41668325T>G | CA371051148 | ANK1 | c.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) | |
8 | g.41668326G>A | CA371051151 | ANK1 | c.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) | |
8 | g.41668326G>C | CA371051153 | ANK1 | c.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) | |
8 | g.41668326G>T | CA371051155 | ANK1 | c.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 |
8 | g.41668327C>A | CA371051157 | ANK1 | c.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) | |
8 | g.41668327C>G | CA371051159 | ANK1 | c.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) | |
8 | g.41668327C>T | CA460782002 | ANK1 | c.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 |
8 | g.41668328C>A | CA371051164 | ANK1 | c.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) | |
8 | g.41668328C= | CA1779071033 | ANK1 | c.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=) | |
8 | g.41668328C>G | CA371051167 | ANK1 | c.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) | |
8 | g.41668328C>T | CA4727314 | ANK1 | c.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 |
8 | g.41668329T>A | CA371051170 | ANK1 | c.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) | |
8 | g.41668329T>C | CA371051172 | ANK1 | c.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) | |
8 | g.41668329T>G | CA460782003 | ANK1 | c.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=) | |
8 | g.41668330C>A | CA460782006 | ANK1 | c.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=) | |
8 | g.41668330C>G | CA460782005 | ANK1 | c.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=) | |
8 | g.41668330C>T | CA460782004 | ANK1 | c.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=) | |
8 | g.41668331C>A | CA371051175 | ANK1 | c.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) | |
8 | g.41668331C= | CA1779071038 | ANK1 | c.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=) | |
8 | g.41668331C>G | CA4727316 | ANK1 | c.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 |
8 | g.41668331C>T | CA4727315 | ANK1 | c.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 |
8 | g.41668332G>A | CA175914226 | ANK1 | c.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 |
8 | g.41668332G>C | CA371051193 | ANK1 | c.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 |
8 | g.41668332G= | CA1779071043 | ANK1 | c.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=) | |
8 | g.41668332G>T | CA4727317 | ANK1 | c.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 |
8 | g.41668333G>A | CA460782007 | ANK1 | c.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=) | |
8 | g.41668333G>C | CA371051194 | ANK1 | c.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) | |
8 | g.41668333G>T | CA371051195 | ANK1 | c.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) | |
8 | g.41668334T>A | CA371051198 | ANK1 | c.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) | |
8 | g.41668334T>C | CA371051200 | ANK1 | c.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) | |
8 | g.41668334T>G | CA371051203 | ANK1 | c.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) | |
8 | g.41668335C>A | CA371051206 | ANK1 | c.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) | |
8 | g.41668335C>G | CA371051208 | ANK1 | c.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) | |
8 | g.41668335C>T | CA371051210 | ANK1 | c.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) | |
8 | g.41668336C>A | CA371051213 | ANK1 | c.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 |
8 | g.41668336C>G | CA371051215 | ANK1 | c.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) | |
8 | g.41668336C>T | CA460782008 | ANK1 | c.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 |
8 | g.41668337C>A | CA371051218 | ANK1 | c.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) | |
8 | g.41668337C= | CA1779071047 | ANK1 | c.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=) | |
8 | g.41668337C>G | CA371051220 | ANK1 | c.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) | |
8 | g.41668337C>T | CA371051222 | ANK1 | c.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 |
8 | g.41668337_41668338del | CA2580078274 | ANK1 | c.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 |
8 | g.41668338T>A | CA371051226 | ANK1 | c.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) | |
8 | g.41668338T>C | CA371051228 | ANK1 | c.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) | |
8 | g.41668338T>G | CA460782009 | ANK1 | c.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=) | |
8 | g.41668339G>A | CA460782010 | ANK1 | c.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=) | |
8 | g.41668339G>C | CA371051233 | ANK1 | c.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 |
8 | g.41668339G= | CA1779071050 | ANK1 | c.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=) | |
8 | g.41668339G>T | CA371051231 | ANK1 | c.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 |
8 | g.41668340T>A | CA371051236 | ANK1 | c.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) | |
8 | g.41668340T>C | CA371051238 | ANK1 | c.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) | |
8 | g.41668340T>G | CA371051239 | ANK1 | c.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) | |
8 | g.41668341C>A | CA371051241 | ANK1 | c.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 |
8 | g.41668341C= | CA1779071052 | ANK1 | c.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=) | |
8 | g.41668341C>G | CA371051243 | ANK1 | c.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) | |
8 | g.41668341C>T | CA4727318 | ANK1 | c.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 |
8 | g.41668341_41668347delinsCGGCCTG | CA1779071053 | ANK1 | c.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=) | |
8 | g.41668342G>A | CA4727319 | ANK1 | c.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 |
8 | g.41668342G>C | CA460782011 | ANK1 | c.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=) | |
8 | g.41668342G= | CA1779071058 | ANK1 | c.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=) | |
8 | g.41668342G>T | CA460782012 | ANK1 | c.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 |
8 | g.41668344_41668349del | CA581928047 | ANK1 | c.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 |
8 | g.41668343G>A | CA371051249 | ANK1 | c.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) | |
8 | g.41668343G>C | CA371051250 | ANK1 | c.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 |
8 | g.41668343G= | CA1779071061 | ANK1 | c.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=) | |
8 | g.41668343G>T | CA4727320 | ANK1 | c.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 |
8 | g.41668344C>A | CA371051253 | ANK1 | c.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) | |
8 | g.41668344C= | CA1779071066 | ANK1 | c.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=) | |
8 | g.41668344C>G | CA4727321 | ANK1 | c.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 |
8 | g.41668344C>T | CA371051256 | ANK1 | c.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 |
8 | g.41668345C>A | CA371051258 | ANK1 | c.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) | |
8 | g.41668345C= | CA1779071068 | ANK1 | c.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=) | |
8 | g.41668345C>G | CA371051260 | ANK1 | c.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) | |
8 | g.41668345C>T | CA460782013 | ANK1 | c.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 |
8 | g.41668346T>A | CA371051263 | ANK1 | c.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) | |
8 | g.41668346T>C | CA371051264 | ANK1 | c.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) | |
8 | g.41668346T>G | CA371051266 | ANK1 | c.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) | |
8 | g.41668347G>A | CA371051269 | ANK1 | c.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) | |
8 | g.41668347G>C | CA4727322 | ANK1 | c.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 |
8 | g.41668347G= | CA1779071070 | ANK1 | c.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=) | |
8 | g.41668347G>T | CA371051275 | ANK1 | c.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 |
8 | g.41668348G>A | CA460782014 | ANK1 | c.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=) | |
8 | g.41668348G>C | CA460782015 | ANK1 | c.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=) | |
8 | g.41668348G>T | CA460782016 | ANK1 | c.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 |
8 | g.41668349G>A | CA371051282 | ANK1 | c.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 |
8 | g.41668349G>C | CA371051278 | ANK1 | c.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) | |
8 | g.41668349G= | CA1779071072 | ANK1 | c.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=) | |
8 | g.41668349G>T | CA371051280 | ANK1 | c.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) | |
8 | g.41668350A= | CA1779071075 | ANK1 | c.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=) | |
8 | g.41668350A>C | CA371051285 | ANK1 | c.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) | |
8 | g.41668350A>G | CA175914250 | ANK1 | c.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 |
8 | g.41668350A>T | CA371051289 | ANK1 | c.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) | |
8 | g.41668351G>A | CA460782017 | ANK1 | c.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=) | |
8 | g.41668351G>C | CA371051292 | ANK1 | c.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) | |
8 | g.41668351G>T | CA371051294 | ANK1 | c.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) | |
8 | g.41668352C>A | CA371051298 | ANK1 | c.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) | |
8 | g.41668352C>G | CA371051302 | ANK1 | c.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) | |
8 | g.41668352C>T | CA371051300 | ANK1 | c.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) | |
8 | g.41668353T>A | CA371051305 | ANK1 | c.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) | |
8 | g.41668353T>C | CA371051307 | ANK1 | c.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) | |
8 | g.41668353T>G | CA371051308 | ANK1 | c.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) | |
8 | g.41668354C>A | CA371051309 | ANK1 | c.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) | |
8 | g.41668354C>G | CA371051310 | ANK1 | c.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 |
8 | g.41668354C>T | CA460782018 | ANK1 | c.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 |
8 | g.41668355T>A | CA371051311 | ANK1 | c.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) | |
8 | g.41668355T>C | CA371051312 | ANK1 | c.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 |
8 | g.41668355T>G | CA371051313 | ANK1 | c.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) | |
8 | g.41668356C>A | CA371051314 | ANK1 | c.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) | |
8 | g.41668356C>G | CA371051315 | ANK1 | c.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) | |
8 | g.41668356C>T | CA371051316 | ANK1 | c.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) | |
8 | g.41668357A>C | CA460782019 | ANK1 | c.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=) | |
8 | g.41668357A>G | CA460782020 | ANK1 | c.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=) | |
8 | g.41668357A>T | CA460782021 | ANK1 | c.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=) | |
8 | g.41668358G>A | CA371051317 | ANK1 | c.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) | |
8 | g.41668358G>C | CA371051319 | ANK1 | c.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) | |
8 | g.41668358G>T | CA371051318 | ANK1 | c.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) | |
8 | g.41668359C>A | CA371051320 | ANK1 | c.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) | |
8 | g.41668359C>G | CA371051322 | ANK1 | c.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) | |
8 | g.41668359C>T | CA371051321 | ANK1 | c.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 |
8 | g.41668360C>A | CA371051323 | ANK1 | c.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) | |
8 | g.41668360C= | CA1779071078 | ANK1 | c.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=) | |
8 | g.41668360C>G | CA371051324 | ANK1 | c.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) | |
8 | g.41668360C>T | CA4727323 | ANK1 | c.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 |
8 | g.41668361T>A | CA371051325 | ANK1 | c.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) | |
8 | g.41668361T>C | CA371051326 | ANK1 | c.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) | |
8 | g.41668361T>G | CA371051327 | ANK1 | c.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) | |
8 | g.41668362C>A | CA371051328 | ANK1 | c.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) | |
8 | g.41668362C= | CA1779071084 | ANK1 | c.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=) | |
8 | g.41668362C>G | CA371051329 | ANK1 | c.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) | |
8 | g.41668362C>T | CA4727324 | ANK1 | c.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 |
8 | g.41668363G>A | CA175914267 | ANK1 | c.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 |
8 | g.41668363G>C | CA460782023 | ANK1 | c.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=) | |
8 | g.41668363G= | CA1779071087 | ANK1 | c.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=) | |
8 | g.41668363G>T | CA460782022 | ANK1 | c.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=) | |
8 | g.41668365del | CA2739279681 | ANK1 | c.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 |
8 | g.41668364G>A | CA371051330 | ANK1 | c.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) | |
8 | g.41668364G>C | CA371051331 | ANK1 | c.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) | |
8 | g.41668364G>T | CA371051332 | ANK1 | c.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) | |
8 | g.41668365G>A | CA371051335 | ANK1 | c.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) | |
8 | g.41668365G>C | CA371051333 | ANK1 | c.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) | |
8 | g.41668365G>T | CA371051334 | ANK1 | c.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) | |
8 | g.41668366C>A | CA371051336 | ANK1 | c.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) | |
8 | g.41668366C>G | CA371051337 | ANK1 | c.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) | |
8 | g.41668366C>T | CA460782024 | ANK1 | c.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 |
8 | g.41668367T>A | CA371051338 | ANK1 | c.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) | |
8 | g.41668367T>C | CA4727325 | ANK1 | c.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 |
8 | g.41668367T>G | CA371051339 | ANK1 | c.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) | |
8 | g.41668367T= | CA1779071089 | ANK1 | c.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=) | |
8 | g.41668368G>A | CA371051340 | ANK1 | c.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) | |
8 | g.41668368G>C | CA371051341 | ANK1 | c.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 |
8 | g.41668368G>T | CA371051342 | ANK1 | c.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) | |
8 | g.41668369T>A | CA371051343 | ANK1 | c.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) | |
8 | g.41668369T>C | CA460782025 | ANK1 | c.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=) | |
8 | g.41668369T>G | CA371051344 | ANK1 | c.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) | |
8 | g.41668370T>A | CA371051346 | ANK1 | c.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) | |
8 | g.41668370T>C | CA371051345 | ANK1 | c.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) | |
8 | g.41668370T>G | CA4727326 | ANK1 | c.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 |
8 | g.41668370T= | CA1779071091 | ANK1 | c.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=) | |
8 | g.41668371C>A | CA371051347 | ANK1 | c.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) | |
8 | g.41668371C>G | CA371051348 | ANK1 | c.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 |
8 | g.41668371C>T | CA371051349 | ANK1 | c.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 |
8 | g.41668372T>A | CA460782026 | ANK1 | c.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=) | |
8 | g.41668372T>C | CA4727327 | ANK1 | c.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 |
8 | g.41668372T>G | CA460782027 | ANK1 | c.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=) | |
8 | g.41668372T= | CA1779071095 | ANK1 | c.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=) | |
8 | g.41668373G>A | CA371051350 | ANK1 | c.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) | |
8 | g.41668373G>C | CA4727328 | ANK1 | c.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 |
8 | g.41668373G= | CA1779071101 | ANK1 | c.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=) | |
8 | g.41668373G>T | CA371051351 | ANK1 | c.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 |
8 | g.41668374T>A | CA371051352 | ANK1 | c.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) | |
8 | g.41668374T>C | CA371051353 | ANK1 | c.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 |
8 | g.41668374T>G | CA371051354 | ANK1 | c.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) | |
8 | g.41668374T= | CA1779071105 | ANK1 | c.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=) | |
8 | g.41668375C>A | CA371051355 | ANK1 | c.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 |
8 | g.41668375C= | CA1779071109 | ANK1 | c.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=) | |
8 | g.41668375C>G | CA175914278 | ANK1 | c.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 |
8 | g.41668375C>T | CA371051356 | ANK1 | c.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) | |
8 | g.41668376C>A | CA371051357 | ANK1 | c.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) | |
8 | g.41668376C>G | CA371051359 | ANK1 | c.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) | |
8 | g.41668376C>T | CA371051358 | ANK1 | c.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 |
8 | g.41668377A>C | CA371051360 | ANK1 | c.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) | |
8 | g.41668377A>G | CA371051361 | ANK1 | c.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) | |
8 | g.41668377A>T | CA371051362 | ANK1 | c.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) | |
8 | g.41668378C>A | CA460782028 | ANK1 | c.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 |
8 | g.41668378C= | CA1779071112 | ANK1 | c.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=) | |
8 | g.41668378C>G | CA4727330 | ANK1 | c.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 |
8 | g.41668378C>T | CA4727329 | ANK1 | c.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 |
8 | g.41668379G>A | CA4727331 | ANK1 | c.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 |
8 | g.41668379G>C | CA371051363 | ANK1 | c.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) | |
8 | g.41668379G= | CA1779071114 | ANK1 | c.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=) | |
8 | g.41668379G>T | CA371051364 | ANK1 | c.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) | |
8 | g.41668380T>A | CA371051365 | ANK1 | c.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) | |
8 | g.41668380T>C | CA371051366 | ANK1 | c.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) | |
8 | g.41668380T>G | CA371051367 | ANK1 | c.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) | |
8 | g.41668381G>A | CA460782029 | ANK1 | c.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 |
8 | g.41668381G>C | CA371051369 | ANK1 | c.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) | |
8 | g.41668381G>T | CA371051368 | ANK1 | c.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 |
8 | g.41668382T>A | CA371051370 | ANK1 | c.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) | |
8 | g.41668382T>C | CA371051372 | ANK1 | c.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) | |
8 | g.41668382T>G | CA371051371 | ANK1 | c.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) | |
8 | g.41668383G>A | CA371051373 | ANK1 | c.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 |
8 | g.41668383G>C | CA371051375 | ANK1 | c.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) | |
8 | g.41668383G>T | CA371051374 | ANK1 | c.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 |
8 | g.41668384C>A | CA371051376 | ANK1 | c.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) | |
8 | g.41668384C>G | CA371051377 | ANK1 | c.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) | |
8 | g.41668384C>T | CA460782030 | ANK1 | c.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=) | |
8 | g.41668385T>A | CA371051378 | ANK1 | c.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) | |
8 | g.41668385T>C | CA371051379 | ANK1 | c.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) | |
8 | g.41668385T>G | CA371051380 | ANK1 | c.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) | |
8 | g.41668386C>A | CA371051381 | ANK1 | c.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) | |
8 | g.41668386C= | CA1779071117 | ANK1 | c.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=) | |
8 | g.41668386C>G | CA371051382 | ANK1 | c.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) | |
8 | g.41668386C>T | CA4727332 | ANK1 | c.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 |
8 | g.41668387A= | CA1779071120 | ANK1 | c.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=) | |
8 | g.41668387A>C | CA371051383 | ANK1 | c.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 |
8 | g.41668387A>G | CA4727333 | ANK1 | c.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 |
8 | g.41668387A>T | CA371051384 | ANK1 | c.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) | |
8 | g.41668388C>A | CA371051386 | ANK1 | c.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) | |
8 | g.41668388C= | CA1779071123 | ANK1 | c.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=) | |
8 | g.41668388C>G | CA175914296 | ANK1 | c.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 |
8 | g.41668388C>T | CA371051385 | ANK1 | c.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 |
8 | g.41668389T>A | CA371051387 | ANK1 | c.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) | |
8 | g.41668389T>C | CA371051388 | ANK1 | c.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) | |
8 | g.41668389T>G | CA371051389 | ANK1 | c.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) | |
8 | g.41668390T>A | CA460782031 | ANK1 | c.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=) | |
8 | g.41668390T>C | CA4727334 | ANK1 | c.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 |
8 | g.41668390T>G | CA460782032 | ANK1 | c.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=) | |
8 | g.41668390T= | CA1779071126 | ANK1 | c.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=) | |
8 | g.41668391A>C | CA371051390 | ANK1 | c.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) | |
8 | g.41668391A>G | CA371051391 | ANK1 | c.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) | |
8 | g.41668391A>T | CA371051392 | ANK1 | c.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) | |
8 | g.41668392C>A | CA371051393 | ANK1 | c.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) | |
8 | g.41668392C= | CA1779071128 | ANK1 | c.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=) | |
8 | g.41668392C>G | CA4727335 | ANK1 | c.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 |
8 | g.41668392C>T | CA371051394 | ANK1 | c.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) | |
8 | g.41668393A= | CA1779071131 | ANK1 | c.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=) | |
8 | g.41668393A>C | CA460782033 | ANK1 | c.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=) | |
8 | g.41668393A>G | CA460782034 | ANK1 | c.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 |
8 | g.41668393A>T | CA460782035 | ANK1 | c.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=) | |
8 | g.41668394G>A | CA371051397 | ANK1 | c.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) | |
8 | g.41668394G>C | CA371051396 | ANK1 | c.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) | |
8 | g.41668394G>T | CA371051395 | ANK1 | c.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) | |
8 | g.41668395A>C | CA371051398 | ANK1 | c.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 |
8 | g.41668395A>G | CA371051399 | ANK1 | c.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) | |
8 | g.41668395A>T | CA371051400 | ANK1 | c.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) | |
8 | g.41668396C>A | CA460782036 | ANK1 | c.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=) | |
8 | g.41668396C= | CA1779071135 | ANK1 | c.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=) | |
8 | g.41668396C>G | CA460782037 | ANK1 | c.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 |
8 | g.41668396C>T | CA4727336 | ANK1 | c.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 |
8 | g.41668397A= | CA1779071142 | ANK1 | c.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=) | |
8 | g.41668397A>C | CA371051401 | ANK1 | c.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) | |
8 | g.41668397A>G | CA371051402 | ANK1 | c.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 |
8 | g.41668397A>T | CA371051403 | ANK1 | c.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) | |
8 | g.41668398C>A | CA371051404 | ANK1 | c.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) | |
8 | g.41668398C>G | CA371051405 | ANK1 | c.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) | |
8 | g.41668398C>T | CA371051406 | ANK1 | c.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 |
8 | g.41668399C>A | CA460782040 | ANK1 | c.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=) | |
8 | g.41668399C= | CA1779071145 | ANK1 | c.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=) | |
8 | g.41668399C>G | CA460782038 | ANK1 | c.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=) | |
8 | g.41668399C>T | CA460782039 | ANK1 | c.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 |
8 | g.41668400A>C | CA371051407 | ANK1 | c.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) | |
8 | g.41668400A>G | CA371051408 | ANK1 | c.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 |
8 | g.41668400A>T | CA371051409 | ANK1 | c.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) | |
8 | g.41668400_41668401delinsAG | CA1779071149 | ANK1 | c.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=) | |
8 | g.41668401G>A | CA460782041 | ANK1 | c.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 |
8 | g.41668401G>C | CA371051410 | ANK1 | c.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) | |
8 | g.41668401G= | CA1779071152 | ANK1 | c.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=) | |
8 | g.41668401G>T | CA371051411 | ANK1 | c.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) | |
8 | g.41668402del | CA1779071154 | ANK1 | c.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 |
8 | g.41668402G>A | CA175914304 | ANK1 | c.5382C>T (p.Val1794=) c.5478C>T (p.Val1826=) c.5295C>T (p.Val1765=) c.5259C>T (p.Val1753=) c.1273C>T c.831C>T c.2737C>T n.2653C>T c.4773C>T (p.Val1591=) c.5523C>T (p.Val1841=) c.5424C>T (p.Val1808=) c.5358C>T (p.Val1786=) c.5340C>T (p.Val1780=) c.4992C>T (p.Val1664=) c.4872C>T (p.Val1624=) c.*40C>T (n.*40C>T) n.5114C>T c.5499C>T (p.Val1833=) c.5436C>T (p.Val1812=) c.5427C>T (p.Val1809=) c.5037C>T (p.Val1679=) c.4896C>T (p.Val1632=) c.5328C>T (p.Val1776=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.41668402G>C | CA460782042 | ANK1 | c.5382C>G (p.Val1794=) c.5478C>G (p.Val1826=) c.5295C>G (p.Val1765=) c.5259C>G (p.Val1753=) c.1273C>G c.831C>G c.2737C>G n.2653C>G c.4773C>G (p.Val1591=) c.5523C>G (p.Val1841=) c.5424C>G (p.Val1808=) c.5358C>G (p.Val1786=) c.5340C>G (p.Val1780=) c.4992C>G (p.Val1664=) c.4872C>G (p.Val1624=) c.*40C>G (n.*40C>G) n.5114C>G c.5499C>G (p.Val1833=) c.5436C>G (p.Val1812=) c.5427C>G (p.Val1809=) c.5037C>G (p.Val1679=) c.4896C>G (p.Val1632=) c.5328C>G (p.Val1776=) | |
8 | g.41668402G= | CA1779071158 | ANK1 | c.5382C= (p.Val1794=) c.5478C= (p.Val1826=) c.5295C= (p.Val1765=) c.5259C= (p.Val1753=) c.1273C= c.831C= c.2737C= n.2653C= c.4773C= (p.Val1591=) c.5523C= (p.Val1841=) c.5424C= (p.Val1808=) c.5358C= (p.Val1786=) c.5340C= (p.Val1780=) c.4992C= (p.Val1664=) c.4872C= (p.Val1624=) c.*40C= (n.*40C=) n.5114C= c.5499C= (p.Val1833=) c.5436C= (p.Val1812=) c.5427C= (p.Val1809=) c.5037C= (p.Val1679=) c.4896C= (p.Val1632=) c.5328C= (p.Val1776=) | |
8 | g.41668402G>T | CA460782043 | ANK1 | c.5382C>A (p.Val1794=) c.5478C>A (p.Val1826=) c.5295C>A (p.Val1765=) c.5259C>A (p.Val1753=) c.1273C>A c.831C>A c.2737C>A n.2653C>A c.4773C>A (p.Val1591=) c.5523C>A (p.Val1841=) c.5424C>A (p.Val1808=) c.5358C>A (p.Val1786=) c.5340C>A (p.Val1780=) c.4992C>A (p.Val1664=) c.4872C>A (p.Val1624=) c.*40C>A (n.*40C>A) n.5114C>A c.5499C>A (p.Val1833=) c.5436C>A (p.Val1812=) c.5427C>A (p.Val1809=) c.5037C>A (p.Val1679=) c.4896C>A (p.Val1632=) c.5328C>A (p.Val1776=) | gnomAD v4 |
8 | g.41668403A>C | CA371051412 | ANK1 | c.5381T>G (p.Val1794Gly) c.5477T>G (p.Val1826Gly) c.5294T>G (p.Val1765Gly) c.5258T>G (p.Val1753Gly) c.1272T>G c.830T>G c.2736T>G n.2652T>G c.4772T>G (p.Val1591Gly) c.5522T>G (p.Val1841Gly) c.5423T>G (p.Val1808Gly) c.5357T>G (p.Val1786Gly) c.5339T>G (p.Val1780Gly) c.4991T>G (p.Val1664Gly) c.4871T>G (p.Val1624Gly) c.*39T>G (n.*39T>G) n.5113T>G c.5498T>G (p.Val1833Gly) c.5435T>G (p.Val1812Gly) c.5426T>G (p.Val1809Gly) c.5036T>G (p.Val1679Gly) c.4895T>G (p.Val1632Gly) c.5327T>G (p.Val1776Gly) | |
8 | g.41668403A>G | CA371051413 | ANK1 | c.5381T>C (p.Val1794Ala) c.5477T>C (p.Val1826Ala) c.5294T>C (p.Val1765Ala) c.5258T>C (p.Val1753Ala) c.1272T>C c.830T>C c.2736T>C n.2652T>C c.4772T>C (p.Val1591Ala) c.5522T>C (p.Val1841Ala) c.5423T>C (p.Val1808Ala) c.5357T>C (p.Val1786Ala) c.5339T>C (p.Val1780Ala) c.4991T>C (p.Val1664Ala) c.4871T>C (p.Val1624Ala) c.*39T>C (n.*39T>C) n.5113T>C c.5498T>C (p.Val1833Ala) c.5435T>C (p.Val1812Ala) c.5426T>C (p.Val1809Ala) c.5036T>C (p.Val1679Ala) c.4895T>C (p.Val1632Ala) c.5327T>C (p.Val1776Ala) | |
8 | g.41668403A>T | CA371051414 | ANK1 | c.5381T>A (p.Val1794Asp) c.5477T>A (p.Val1826Asp) c.5294T>A (p.Val1765Asp) c.5258T>A (p.Val1753Asp) c.1272T>A c.830T>A c.2736T>A n.2652T>A c.4772T>A (p.Val1591Asp) c.5522T>A (p.Val1841Asp) c.5423T>A (p.Val1808Asp) c.5357T>A (p.Val1786Asp) c.5339T>A (p.Val1780Asp) c.4991T>A (p.Val1664Asp) c.4871T>A (p.Val1624Asp) c.*39T>A (n.*39T>A) n.5113T>A c.5498T>A (p.Val1833Asp) c.5435T>A (p.Val1812Asp) c.5426T>A (p.Val1809Asp) c.5036T>A (p.Val1679Asp) c.4895T>A (p.Val1632Asp) c.5327T>A (p.Val1776Asp) |