Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.41668410C>ACA371051447ANK1c.5374G>T (p.Glu1792Ter)
c.5470G>T (p.Glu1824Ter)
c.5287G>T (p.Glu1763Ter)
c.5251G>T (p.Glu1751Ter)
c.1265G>T
c.823G>T
c.2729G>T
n.2645G>T
c.4765G>T (p.Glu1589Ter)
c.5515G>T (p.Glu1839Ter)
c.5416G>T (p.Glu1806Ter)
c.5350G>T (p.Glu1784Ter)
c.5332G>T (p.Glu1778Ter)
c.4984G>T (p.Glu1662Ter)
c.4864G>T (p.Glu1622Ter)
c.*32G>T (n.*32G>T)
n.5106G>T
c.5491G>T (p.Glu1831Ter)
c.5428G>T (p.Glu1810Ter)
c.5419G>T (p.Glu1807Ter)
c.5029G>T (p.Glu1677Ter)
c.4888G>T (p.Glu1630Ter)
c.5320G>T (p.Glu1774Ter)
8g.41668410C=CA1779071175ANK1c.5374G= (p.Glu1792=)
c.5470G= (p.Glu1824=)
c.5287G= (p.Glu1763=)
c.5251G= (p.Glu1751=)
c.1265G=
c.823G=
c.2729G=
n.2645G=
c.4765G= (p.Glu1589=)
c.5515G= (p.Glu1839=)
c.5416G= (p.Glu1806=)
c.5350G= (p.Glu1784=)
c.5332G= (p.Glu1778=)
c.4984G= (p.Glu1662=)
c.4864G= (p.Glu1622=)
c.*32G= (n.*32G=)
n.5106G=
c.5491G= (p.Glu1831=)
c.5428G= (p.Glu1810=)
c.5419G= (p.Glu1807=)
c.5029G= (p.Glu1677=)
c.4888G= (p.Glu1630=)
c.5320G= (p.Glu1774=)
8g.41668410C>GCA175914316ANK1c.5374G>C (p.Glu1792Gln)
c.5470G>C (p.Glu1824Gln)
c.5287G>C (p.Glu1763Gln)
c.5251G>C (p.Glu1751Gln)
c.1265G>C
c.823G>C
c.2729G>C
n.2645G>C
c.4765G>C (p.Glu1589Gln)
c.5515G>C (p.Glu1839Gln)
c.5416G>C (p.Glu1806Gln)
c.5350G>C (p.Glu1784Gln)
c.5332G>C (p.Glu1778Gln)
c.4984G>C (p.Glu1662Gln)
c.4864G>C (p.Glu1622Gln)
c.*32G>C (n.*32G>C)
n.5106G>C
c.5491G>C (p.Glu1831Gln)
c.5428G>C (p.Glu1810Gln)
c.5419G>C (p.Glu1807Gln)
c.5029G>C (p.Glu1677Gln)
c.4888G>C (p.Glu1630Gln)
c.5320G>C (p.Glu1774Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.41668410C>TCA4727341ANK1c.5374G>A (p.Glu1792Lys)
c.5470G>A (p.Glu1824Lys)
c.5287G>A (p.Glu1763Lys)
c.5251G>A (p.Glu1751Lys)
c.1265G>A
c.823G>A
c.2729G>A
n.2645G>A
c.4765G>A (p.Glu1589Lys)
c.5515G>A (p.Glu1839Lys)
c.5416G>A (p.Glu1806Lys)
c.5350G>A (p.Glu1784Lys)
c.5332G>A (p.Glu1778Lys)
c.4984G>A (p.Glu1662Lys)
c.4864G>A (p.Glu1622Lys)
c.*32G>A (n.*32G>A)
n.5106G>A
c.5491G>A (p.Glu1831Lys)
c.5428G>A (p.Glu1810Lys)
c.5419G>A (p.Glu1807Lys)
c.5029G>A (p.Glu1677Lys)
c.4888G>A (p.Glu1630Lys)
c.5320G>A (p.Glu1774Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.41668411G>ACA4727342ANK1c.5373C>T (p.Tyr1791=)
c.5469C>T (p.Tyr1823=)
c.5286C>T (p.Tyr1762=)
c.5250C>T (p.Tyr1750=)
c.1264C>T
c.822C>T
c.2728C>T
n.2644C>T
c.4764C>T (p.Tyr1588=)
c.5514C>T (p.Tyr1838=)
c.5415C>T (p.Tyr1805=)
c.5349C>T (p.Tyr1783=)
c.5331C>T (p.Tyr1777=)
c.4983C>T (p.Tyr1661=)
c.4863C>T (p.Tyr1621=)
c.*31C>T (n.*31C>T)
n.5105C>T
c.5490C>T (p.Tyr1830=)
c.5427C>T (p.Tyr1809=)
c.5418C>T (p.Tyr1806=)
c.5028C>T (p.Tyr1676=)
c.4887C>T (p.Tyr1629=)
c.5319C>T (p.Tyr1773=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41668411G>CCA371051450ANK1c.5373C>G (p.Tyr1791Ter)
c.5469C>G (p.Tyr1823Ter)
c.5286C>G (p.Tyr1762Ter)
c.5250C>G (p.Tyr1750Ter)
c.1264C>G
c.822C>G
c.2728C>G
n.2644C>G
c.4764C>G (p.Tyr1588Ter)
c.5514C>G (p.Tyr1838Ter)
c.5415C>G (p.Tyr1805Ter)
c.5349C>G (p.Tyr1783Ter)
c.5331C>G (p.Tyr1777Ter)
c.4983C>G (p.Tyr1661Ter)
c.4863C>G (p.Tyr1621Ter)
c.*31C>G (n.*31C>G)
n.5105C>G
c.5490C>G (p.Tyr1830Ter)
c.5427C>G (p.Tyr1809Ter)
c.5418C>G (p.Tyr1806Ter)
c.5028C>G (p.Tyr1676Ter)
c.4887C>G (p.Tyr1629Ter)
c.5319C>G (p.Tyr1773Ter)
8g.41668411G=CA1779071183ANK1c.5373C= (p.Tyr1791=)
c.5469C= (p.Tyr1823=)
c.5286C= (p.Tyr1762=)
c.5250C= (p.Tyr1750=)
c.1264C=
c.822C=
c.2728C=
n.2644C=
c.4764C= (p.Tyr1588=)
c.5514C= (p.Tyr1838=)
c.5415C= (p.Tyr1805=)
c.5349C= (p.Tyr1783=)
c.5331C= (p.Tyr1777=)
c.4983C= (p.Tyr1661=)
c.4863C= (p.Tyr1621=)
c.*31C= (n.*31C=)
n.5105C=
c.5490C= (p.Tyr1830=)
c.5427C= (p.Tyr1809=)
c.5418C= (p.Tyr1806=)
c.5028C= (p.Tyr1676=)
c.4887C= (p.Tyr1629=)
c.5319C= (p.Tyr1773=)
8g.41668411G>TCA371051452ANK1c.5373C>A (p.Tyr1791Ter)
c.5469C>A (p.Tyr1823Ter)
c.5286C>A (p.Tyr1762Ter)
c.5250C>A (p.Tyr1750Ter)
c.1264C>A
c.822C>A
c.2728C>A
n.2644C>A
c.4764C>A (p.Tyr1588Ter)
c.5514C>A (p.Tyr1838Ter)
c.5415C>A (p.Tyr1805Ter)
c.5349C>A (p.Tyr1783Ter)
c.5331C>A (p.Tyr1777Ter)
c.4983C>A (p.Tyr1661Ter)
c.4863C>A (p.Tyr1621Ter)
c.*31C>A (n.*31C>A)
n.5105C>A
c.5490C>A (p.Tyr1830Ter)
c.5427C>A (p.Tyr1809Ter)
c.5418C>A (p.Tyr1806Ter)
c.5028C>A (p.Tyr1676Ter)
c.4887C>A (p.Tyr1629Ter)
c.5319C>A (p.Tyr1773Ter)
8g.41668412T>ACA371051454ANK1c.5372A>T (p.Tyr1791Phe)
c.5468A>T (p.Tyr1823Phe)
c.5285A>T (p.Tyr1762Phe)
c.5249A>T (p.Tyr1750Phe)
c.1263A>T
c.821A>T
c.2727A>T
n.2643A>T
c.4763A>T (p.Tyr1588Phe)
c.5513A>T (p.Tyr1838Phe)
c.5414A>T (p.Tyr1805Phe)
c.5348A>T (p.Tyr1783Phe)
c.5330A>T (p.Tyr1777Phe)
c.4982A>T (p.Tyr1661Phe)
c.4862A>T (p.Tyr1621Phe)
c.*30A>T (n.*30A>T)
n.5104A>T
c.5489A>T (p.Tyr1830Phe)
c.5426A>T (p.Tyr1809Phe)
c.5417A>T (p.Tyr1806Phe)
c.5027A>T (p.Tyr1676Phe)
c.4886A>T (p.Tyr1629Phe)
c.5318A>T (p.Tyr1773Phe)
8g.41668412T>CCA371051456ANK1c.5372A>G (p.Tyr1791Cys)
c.5468A>G (p.Tyr1823Cys)
c.5285A>G (p.Tyr1762Cys)
c.5249A>G (p.Tyr1750Cys)
c.1263A>G
c.821A>G
c.2727A>G
n.2643A>G
c.4763A>G (p.Tyr1588Cys)
c.5513A>G (p.Tyr1838Cys)
c.5414A>G (p.Tyr1805Cys)
c.5348A>G (p.Tyr1783Cys)
c.5330A>G (p.Tyr1777Cys)
c.4982A>G (p.Tyr1661Cys)
c.4862A>G (p.Tyr1621Cys)
c.*30A>G (n.*30A>G)
n.5104A>G
c.5489A>G (p.Tyr1830Cys)
c.5426A>G (p.Tyr1809Cys)
c.5417A>G (p.Tyr1806Cys)
c.5027A>G (p.Tyr1676Cys)
c.4886A>G (p.Tyr1629Cys)
c.5318A>G (p.Tyr1773Cys)
8g.41668412T>GCA371051459ANK1c.5372A>C (p.Tyr1791Ser)
c.5468A>C (p.Tyr1823Ser)
c.5285A>C (p.Tyr1762Ser)
c.5249A>C (p.Tyr1750Ser)
c.1263A>C
c.821A>C
c.2727A>C
n.2643A>C
c.4763A>C (p.Tyr1588Ser)
c.5513A>C (p.Tyr1838Ser)
c.5414A>C (p.Tyr1805Ser)
c.5348A>C (p.Tyr1783Ser)
c.5330A>C (p.Tyr1777Ser)
c.4982A>C (p.Tyr1661Ser)
c.4862A>C (p.Tyr1621Ser)
c.*30A>C (n.*30A>C)
n.5104A>C
c.5489A>C (p.Tyr1830Ser)
c.5426A>C (p.Tyr1809Ser)
c.5417A>C (p.Tyr1806Ser)
c.5027A>C (p.Tyr1676Ser)
c.4886A>C (p.Tyr1629Ser)
c.5318A>C (p.Tyr1773Ser)
8g.41668413A>CCA371051467ANK1c.5371T>G (p.Tyr1791Asp)
c.5467T>G (p.Tyr1823Asp)
c.5284T>G (p.Tyr1762Asp)
c.5248T>G (p.Tyr1750Asp)
c.1262T>G
c.820T>G
c.2726T>G
n.2642T>G
c.4762T>G (p.Tyr1588Asp)
c.5512T>G (p.Tyr1838Asp)
c.5413T>G (p.Tyr1805Asp)
c.5347T>G (p.Tyr1783Asp)
c.5329T>G (p.Tyr1777Asp)
c.4981T>G (p.Tyr1661Asp)
c.4861T>G (p.Tyr1621Asp)
c.*29T>G (n.*29T>G)
n.5103T>G
c.5488T>G (p.Tyr1830Asp)
c.5425T>G (p.Tyr1809Asp)
c.5416T>G (p.Tyr1806Asp)
c.5026T>G (p.Tyr1676Asp)
c.4885T>G (p.Tyr1629Asp)
c.5317T>G (p.Tyr1773Asp)
 gnomAD v4
8g.41668413A>GCA371051462ANK1c.5371T>C (p.Tyr1791His)
c.5467T>C (p.Tyr1823His)
c.5284T>C (p.Tyr1762His)
c.5248T>C (p.Tyr1750His)
c.1262T>C
c.820T>C
c.2726T>C
n.2642T>C
c.4762T>C (p.Tyr1588His)
c.5512T>C (p.Tyr1838His)
c.5413T>C (p.Tyr1805His)
c.5347T>C (p.Tyr1783His)
c.5329T>C (p.Tyr1777His)
c.4981T>C (p.Tyr1661His)
c.4861T>C (p.Tyr1621His)
c.*29T>C (n.*29T>C)
n.5103T>C
c.5488T>C (p.Tyr1830His)
c.5425T>C (p.Tyr1809His)
c.5416T>C (p.Tyr1806His)
c.5026T>C (p.Tyr1676His)
c.4885T>C (p.Tyr1629His)
c.5317T>C (p.Tyr1773His)
8g.41668413A>TCA371051464ANK1c.5371T>A (p.Tyr1791Asn)
c.5467T>A (p.Tyr1823Asn)
c.5284T>A (p.Tyr1762Asn)
c.5248T>A (p.Tyr1750Asn)
c.1262T>A
c.820T>A
c.2726T>A
n.2642T>A
c.4762T>A (p.Tyr1588Asn)
c.5512T>A (p.Tyr1838Asn)
c.5413T>A (p.Tyr1805Asn)
c.5347T>A (p.Tyr1783Asn)
c.5329T>A (p.Tyr1777Asn)
c.4981T>A (p.Tyr1661Asn)
c.4861T>A (p.Tyr1621Asn)
c.*29T>A (n.*29T>A)
n.5103T>A
c.5488T>A (p.Tyr1830Asn)
c.5425T>A (p.Tyr1809Asn)
c.5416T>A (p.Tyr1806Asn)
c.5026T>A (p.Tyr1676Asn)
c.4885T>A (p.Tyr1629Asn)
c.5317T>A (p.Tyr1773Asn)
 gnomAD v4
8g.41668414C>ACA371051469ANK1c.5370G>T (p.Glu1790Asp)
c.5466G>T (p.Glu1822Asp)
c.5283G>T (p.Glu1761Asp)
c.5247G>T (p.Glu1749Asp)
c.1261G>T
c.819G>T
c.2725G>T
n.2641G>T
c.4761G>T (p.Glu1587Asp)
c.5511G>T (p.Glu1837Asp)
c.5412G>T (p.Glu1804Asp)
c.5346G>T (p.Glu1782Asp)
c.5328G>T (p.Glu1776Asp)
c.4980G>T (p.Glu1660Asp)
c.4860G>T (p.Glu1620Asp)
c.*28G>T (n.*28G>T)
n.5102G>T
c.5487G>T (p.Glu1829Asp)
c.5424G>T (p.Glu1808Asp)
c.5415G>T (p.Glu1805Asp)
c.5025G>T (p.Glu1675Asp)
c.4884G>T (p.Glu1628Asp)
c.5316G>T (p.Glu1772Asp)
8g.41668414C=CA1779071186ANK1c.5370G= (p.Glu1790=)
c.5466G= (p.Glu1822=)
c.5283G= (p.Glu1761=)
c.5247G= (p.Glu1749=)
c.1261G=
c.819G=
c.2725G=
n.2641G=
c.4761G= (p.Glu1587=)
c.5511G= (p.Glu1837=)
c.5412G= (p.Glu1804=)
c.5346G= (p.Glu1782=)
c.5328G= (p.Glu1776=)
c.4980G= (p.Glu1660=)
c.4860G= (p.Glu1620=)
c.*28G= (n.*28G=)
n.5102G=
c.5487G= (p.Glu1829=)
c.5424G= (p.Glu1808=)
c.5415G= (p.Glu1805=)
c.5025G= (p.Glu1675=)
c.4884G= (p.Glu1628=)
c.5316G= (p.Glu1772=)
8g.41668414C>GCA371051471ANK1c.5370G>C (p.Glu1790Asp)
c.5466G>C (p.Glu1822Asp)
c.5283G>C (p.Glu1761Asp)
c.5247G>C (p.Glu1749Asp)
c.1261G>C
c.819G>C
c.2725G>C
n.2641G>C
c.4761G>C (p.Glu1587Asp)
c.5511G>C (p.Glu1837Asp)
c.5412G>C (p.Glu1804Asp)
c.5346G>C (p.Glu1782Asp)
c.5328G>C (p.Glu1776Asp)
c.4980G>C (p.Glu1660Asp)
c.4860G>C (p.Glu1620Asp)
c.*28G>C (n.*28G>C)
n.5102G>C
c.5487G>C (p.Glu1829Asp)
c.5424G>C (p.Glu1808Asp)
c.5415G>C (p.Glu1805Asp)
c.5025G>C (p.Glu1675Asp)
c.4884G>C (p.Glu1628Asp)
c.5316G>C (p.Glu1772Asp)
8g.41668414C>TCA460782045ANK1c.5370G>A (p.Glu1790=)
c.5466G>A (p.Glu1822=)
c.5283G>A (p.Glu1761=)
c.5247G>A (p.Glu1749=)
c.1261G>A
c.819G>A
c.2725G>A
n.2641G>A
c.4761G>A (p.Glu1587=)
c.5511G>A (p.Glu1837=)
c.5412G>A (p.Glu1804=)
c.5346G>A (p.Glu1782=)
c.5328G>A (p.Glu1776=)
c.4980G>A (p.Glu1660=)
c.4860G>A (p.Glu1620=)
c.*28G>A (n.*28G>A)
n.5102G>A
c.5487G>A (p.Glu1829=)
c.5424G>A (p.Glu1808=)
c.5415G>A (p.Glu1805=)
c.5025G>A (p.Glu1675=)
c.4884G>A (p.Glu1628=)
c.5316G>A (p.Glu1772=)
 dbSNP
8g.41668415T>ACA371051474ANK1c.5369A>T (p.Glu1790Val)
c.5465A>T (p.Glu1822Val)
c.5282A>T (p.Glu1761Val)
c.5246A>T (p.Glu1749Val)
c.1260A>T
c.818A>T
c.2724A>T
n.2640A>T
c.4760A>T (p.Glu1587Val)
c.5510A>T (p.Glu1837Val)
c.5411A>T (p.Glu1804Val)
c.5345A>T (p.Glu1782Val)
c.5327A>T (p.Glu1776Val)
c.4979A>T (p.Glu1660Val)
c.4859A>T (p.Glu1620Val)
c.*27A>T (n.*27A>T)
n.5101A>T
c.5486A>T (p.Glu1829Val)
c.5423A>T (p.Glu1808Val)
c.5414A>T (p.Glu1805Val)
c.5024A>T (p.Glu1675Val)
c.4883A>T (p.Glu1628Val)
c.5315A>T (p.Glu1772Val)
8g.41668415T>CCA371051475ANK1c.5369A>G (p.Glu1790Gly)
c.5465A>G (p.Glu1822Gly)
c.5282A>G (p.Glu1761Gly)
c.5246A>G (p.Glu1749Gly)
c.1260A>G
c.818A>G
c.2724A>G
n.2640A>G
c.4760A>G (p.Glu1587Gly)
c.5510A>G (p.Glu1837Gly)
c.5411A>G (p.Glu1804Gly)
c.5345A>G (p.Glu1782Gly)
c.5327A>G (p.Glu1776Gly)
c.4979A>G (p.Glu1660Gly)
c.4859A>G (p.Glu1620Gly)
c.*27A>G (n.*27A>G)
n.5101A>G
c.5486A>G (p.Glu1829Gly)
c.5423A>G (p.Glu1808Gly)
c.5414A>G (p.Glu1805Gly)
c.5024A>G (p.Glu1675Gly)
c.4883A>G (p.Glu1628Gly)
c.5315A>G (p.Glu1772Gly)
8g.41668415T>GCA371051477ANK1c.5369A>C (p.Glu1790Ala)
c.5465A>C (p.Glu1822Ala)
c.5282A>C (p.Glu1761Ala)
c.5246A>C (p.Glu1749Ala)
c.1260A>C
c.818A>C
c.2724A>C
n.2640A>C
c.4760A>C (p.Glu1587Ala)
c.5510A>C (p.Glu1837Ala)
c.5411A>C (p.Glu1804Ala)
c.5345A>C (p.Glu1782Ala)
c.5327A>C (p.Glu1776Ala)
c.4979A>C (p.Glu1660Ala)
c.4859A>C (p.Glu1620Ala)
c.*27A>C (n.*27A>C)
n.5101A>C
c.5486A>C (p.Glu1829Ala)
c.5423A>C (p.Glu1808Ala)
c.5414A>C (p.Glu1805Ala)
c.5024A>C (p.Glu1675Ala)
c.4883A>C (p.Glu1628Ala)
c.5315A>C (p.Glu1772Ala)
8g.41668416C>ACA371051479ANK1c.5368G>T (p.Glu1790Ter)
c.5464G>T (p.Glu1822Ter)
c.5281G>T (p.Glu1761Ter)
c.5245G>T (p.Glu1749Ter)
c.1259G>T
c.817G>T
c.2723G>T
n.2639G>T
c.4759G>T (p.Glu1587Ter)
c.5509G>T (p.Glu1837Ter)
c.5410G>T (p.Glu1804Ter)
c.5344G>T (p.Glu1782Ter)
c.5326G>T (p.Glu1776Ter)
c.4978G>T (p.Glu1660Ter)
c.4858G>T (p.Glu1620Ter)
c.*26G>T (n.*26G>T)
n.5100G>T
c.5485G>T (p.Glu1829Ter)
c.5422G>T (p.Glu1808Ter)
c.5413G>T (p.Glu1805Ter)
c.5023G>T (p.Glu1675Ter)
c.4882G>T (p.Glu1628Ter)
c.5314G>T (p.Glu1772Ter)
8g.41668416C>GCA371051480ANK1c.5368G>C (p.Glu1790Gln)
c.5464G>C (p.Glu1822Gln)
c.5281G>C (p.Glu1761Gln)
c.5245G>C (p.Glu1749Gln)
c.1259G>C
c.817G>C
c.2723G>C
n.2639G>C
c.4759G>C (p.Glu1587Gln)
c.5509G>C (p.Glu1837Gln)
c.5410G>C (p.Glu1804Gln)
c.5344G>C (p.Glu1782Gln)
c.5326G>C (p.Glu1776Gln)
c.4978G>C (p.Glu1660Gln)
c.4858G>C (p.Glu1620Gln)
c.*26G>C (n.*26G>C)
n.5100G>C
c.5485G>C (p.Glu1829Gln)
c.5422G>C (p.Glu1808Gln)
c.5413G>C (p.Glu1805Gln)
c.5023G>C (p.Glu1675Gln)
c.4882G>C (p.Glu1628Gln)
c.5314G>C (p.Glu1772Gln)
 COSMIC COSMIC
8g.41668416C>TCA371051482ANK1c.5368G>A (p.Glu1790Lys)
c.5464G>A (p.Glu1822Lys)
c.5281G>A (p.Glu1761Lys)
c.5245G>A (p.Glu1749Lys)
c.1259G>A
c.817G>A
c.2723G>A
n.2639G>A
c.4759G>A (p.Glu1587Lys)
c.5509G>A (p.Glu1837Lys)
c.5410G>A (p.Glu1804Lys)
c.5344G>A (p.Glu1782Lys)
c.5326G>A (p.Glu1776Lys)
c.4978G>A (p.Glu1660Lys)
c.4858G>A (p.Glu1620Lys)
c.*26G>A (n.*26G>A)
n.5100G>A
c.5485G>A (p.Glu1829Lys)
c.5422G>A (p.Glu1808Lys)
c.5413G>A (p.Glu1805Lys)
c.5023G>A (p.Glu1675Lys)
c.4882G>A (p.Glu1628Lys)
c.5314G>A (p.Glu1772Lys)
8g.41668417C>ACA371051485ANK1c.5367G>T (p.Gln1789His)
c.5463G>T (p.Gln1821His)
c.5280G>T (p.Gln1760His)
c.5244G>T (p.Gln1748His)
c.1258G>T
c.816G>T
c.2722G>T
n.2638G>T
c.4758G>T (p.Gln1586His)
c.5508G>T (p.Gln1836His)
c.5409G>T (p.Gln1803His)
c.5343G>T (p.Gln1781His)
c.5325G>T (p.Gln1775His)
c.4977G>T (p.Gln1659His)
c.4857G>T (p.Gln1619His)
c.*25G>T (n.*25G>T)
n.5099G>T
c.5484G>T (p.Gln1828His)
c.5421G>T (p.Gln1807His)
c.5412G>T (p.Gln1804His)
c.5022G>T (p.Gln1674His)
c.4881G>T (p.Gln1627His)
c.5313G>T (p.Gln1771His)
8g.41668417C>GCA371051486ANK1c.5367G>C (p.Gln1789His)
c.5463G>C (p.Gln1821His)
c.5280G>C (p.Gln1760His)
c.5244G>C (p.Gln1748His)
c.1258G>C
c.816G>C
c.2722G>C
n.2638G>C
c.4758G>C (p.Gln1586His)
c.5508G>C (p.Gln1836His)
c.5409G>C (p.Gln1803His)
c.5343G>C (p.Gln1781His)
c.5325G>C (p.Gln1775His)
c.4977G>C (p.Gln1659His)
c.4857G>C (p.Gln1619His)
c.*25G>C (n.*25G>C)
n.5099G>C
c.5484G>C (p.Gln1828His)
c.5421G>C (p.Gln1807His)
c.5412G>C (p.Gln1804His)
c.5022G>C (p.Gln1674His)
c.4881G>C (p.Gln1627His)
c.5313G>C (p.Gln1771His)
8g.41668417C>TCA460782046ANK1c.5367G>A (p.Gln1789=)
c.5463G>A (p.Gln1821=)
c.5280G>A (p.Gln1760=)
c.5244G>A (p.Gln1748=)
c.1258G>A
c.816G>A
c.2722G>A
n.2638G>A
c.4758G>A (p.Gln1586=)
c.5508G>A (p.Gln1836=)
c.5409G>A (p.Gln1803=)
c.5343G>A (p.Gln1781=)
c.5325G>A (p.Gln1775=)
c.4977G>A (p.Gln1659=)
c.4857G>A (p.Gln1619=)
c.*25G>A (n.*25G>A)
n.5099G>A
c.5484G>A (p.Gln1828=)
c.5421G>A (p.Gln1807=)
c.5412G>A (p.Gln1804=)
c.5022G>A (p.Gln1674=)
c.4881G>A (p.Gln1627=)
c.5313G>A (p.Gln1771=)
8g.41668418T>ACA371051487ANK1c.5366A>T (p.Gln1789Leu)
c.5462A>T (p.Gln1821Leu)
c.5279A>T (p.Gln1760Leu)
c.5243A>T (p.Gln1748Leu)
c.1257A>T
c.815A>T
c.2721A>T
n.2637A>T
c.4757A>T (p.Gln1586Leu)
c.5507A>T (p.Gln1836Leu)
c.5408A>T (p.Gln1803Leu)
c.5342A>T (p.Gln1781Leu)
c.5324A>T (p.Gln1775Leu)
c.4976A>T (p.Gln1659Leu)
c.4856A>T (p.Gln1619Leu)
c.*24A>T (n.*24A>T)
n.5098A>T
c.5483A>T (p.Gln1828Leu)
c.5420A>T (p.Gln1807Leu)
c.5411A>T (p.Gln1804Leu)
c.5021A>T (p.Gln1674Leu)
c.4880A>T (p.Gln1627Leu)
c.5312A>T (p.Gln1771Leu)
8g.41668418T>CCA371051490ANK1c.5366A>G (p.Gln1789Arg)
c.5462A>G (p.Gln1821Arg)
c.5279A>G (p.Gln1760Arg)
c.5243A>G (p.Gln1748Arg)
c.1257A>G
c.815A>G
c.2721A>G
n.2637A>G
c.4757A>G (p.Gln1586Arg)
c.5507A>G (p.Gln1836Arg)
c.5408A>G (p.Gln1803Arg)
c.5342A>G (p.Gln1781Arg)
c.5324A>G (p.Gln1775Arg)
c.4976A>G (p.Gln1659Arg)
c.4856A>G (p.Gln1619Arg)
c.*24A>G (n.*24A>G)
n.5098A>G
c.5483A>G (p.Gln1828Arg)
c.5420A>G (p.Gln1807Arg)
c.5411A>G (p.Gln1804Arg)
c.5021A>G (p.Gln1674Arg)
c.4880A>G (p.Gln1627Arg)
c.5312A>G (p.Gln1771Arg)
8g.41668418T>GCA371051492ANK1c.5366A>C (p.Gln1789Pro)
c.5462A>C (p.Gln1821Pro)
c.5279A>C (p.Gln1760Pro)
c.5243A>C (p.Gln1748Pro)
c.1257A>C
c.815A>C
c.2721A>C
n.2637A>C
c.4757A>C (p.Gln1586Pro)
c.5507A>C (p.Gln1836Pro)
c.5408A>C (p.Gln1803Pro)
c.5342A>C (p.Gln1781Pro)
c.5324A>C (p.Gln1775Pro)
c.4976A>C (p.Gln1659Pro)
c.4856A>C (p.Gln1619Pro)
c.*24A>C (n.*24A>C)
n.5098A>C
c.5483A>C (p.Gln1828Pro)
c.5420A>C (p.Gln1807Pro)
c.5411A>C (p.Gln1804Pro)
c.5021A>C (p.Gln1674Pro)
c.4880A>C (p.Gln1627Pro)
c.5312A>C (p.Gln1771Pro)
 gnomAD v4
8g.41668419G>ACA371051494ANK1c.5365C>T (p.Gln1789Ter)
c.5461C>T (p.Gln1821Ter)
c.5278C>T (p.Gln1760Ter)
c.5242C>T (p.Gln1748Ter)
c.1256C>T
c.814C>T
c.2720C>T
n.2636C>T
c.4756C>T (p.Gln1586Ter)
c.5506C>T (p.Gln1836Ter)
c.5407C>T (p.Gln1803Ter)
c.5341C>T (p.Gln1781Ter)
c.5323C>T (p.Gln1775Ter)
c.4975C>T (p.Gln1659Ter)
c.4855C>T (p.Gln1619Ter)
c.*23C>T (n.*23C>T)
n.5097C>T
c.5482C>T (p.Gln1828Ter)
c.5419C>T (p.Gln1807Ter)
c.5410C>T (p.Gln1804Ter)
c.5020C>T (p.Gln1674Ter)
c.4879C>T (p.Gln1627Ter)
c.5311C>T (p.Gln1771Ter)
8g.41668419G>CCA371051497ANK1c.5365C>G (p.Gln1789Glu)
c.5461C>G (p.Gln1821Glu)
c.5278C>G (p.Gln1760Glu)
c.5242C>G (p.Gln1748Glu)
c.1256C>G
c.814C>G
c.2720C>G
n.2636C>G
c.4756C>G (p.Gln1586Glu)
c.5506C>G (p.Gln1836Glu)
c.5407C>G (p.Gln1803Glu)
c.5341C>G (p.Gln1781Glu)
c.5323C>G (p.Gln1775Glu)
c.4975C>G (p.Gln1659Glu)
c.4855C>G (p.Gln1619Glu)
c.*23C>G (n.*23C>G)
n.5097C>G
c.5482C>G (p.Gln1828Glu)
c.5419C>G (p.Gln1807Glu)
c.5410C>G (p.Gln1804Glu)
c.5020C>G (p.Gln1674Glu)
c.4879C>G (p.Gln1627Glu)
c.5311C>G (p.Gln1771Glu)
 gnomAD v4
8g.41668419G>TCA371051495ANK1c.5365C>A (p.Gln1789Lys)
c.5461C>A (p.Gln1821Lys)
c.5278C>A (p.Gln1760Lys)
c.5242C>A (p.Gln1748Lys)
c.1256C>A
c.814C>A
c.2720C>A
n.2636C>A
c.4756C>A (p.Gln1586Lys)
c.5506C>A (p.Gln1836Lys)
c.5407C>A (p.Gln1803Lys)
c.5341C>A (p.Gln1781Lys)
c.5323C>A (p.Gln1775Lys)
c.4975C>A (p.Gln1659Lys)
c.4855C>A (p.Gln1619Lys)
c.*23C>A (n.*23C>A)
n.5097C>A
c.5482C>A (p.Gln1828Lys)
c.5419C>A (p.Gln1807Lys)
c.5410C>A (p.Gln1804Lys)
c.5020C>A (p.Gln1674Lys)
c.4879C>A (p.Gln1627Lys)
c.5311C>A (p.Gln1771Lys)
 COSMIC COSMIC
8g.41668420A>CCA460782047ANK1c.5364T>G (p.Ser1788=)
c.5460T>G (p.Ser1820=)
c.5277T>G (p.Ser1759=)
c.5241T>G (p.Ser1747=)
c.1255T>G
c.813T>G
c.2719T>G
n.2635T>G
c.4755T>G (p.Ser1585=)
c.5505T>G (p.Ser1835=)
c.5406T>G (p.Ser1802=)
c.5340T>G (p.Ser1780=)
c.5322T>G (p.Ser1774=)
c.4974T>G (p.Ser1658=)
c.4854T>G (p.Ser1618=)
c.*22T>G (n.*22T>G)
n.5096T>G
c.5481T>G (p.Ser1827=)
c.5418T>G (p.Ser1806=)
c.5409T>G (p.Ser1803=)
c.5019T>G (p.Ser1673=)
c.4878T>G (p.Ser1626=)
c.5310T>G (p.Ser1770=)
8g.41668420A>GCA460782048ANK1c.5364T>C (p.Ser1788=)
c.5460T>C (p.Ser1820=)
c.5277T>C (p.Ser1759=)
c.5241T>C (p.Ser1747=)
c.1255T>C
c.813T>C
c.2719T>C
n.2635T>C
c.4755T>C (p.Ser1585=)
c.5505T>C (p.Ser1835=)
c.5406T>C (p.Ser1802=)
c.5340T>C (p.Ser1780=)
c.5322T>C (p.Ser1774=)
c.4974T>C (p.Ser1658=)
c.4854T>C (p.Ser1618=)
c.*22T>C (n.*22T>C)
n.5096T>C
c.5481T>C (p.Ser1827=)
c.5418T>C (p.Ser1806=)
c.5409T>C (p.Ser1803=)
c.5019T>C (p.Ser1673=)
c.4878T>C (p.Ser1626=)
c.5310T>C (p.Ser1770=)
8g.41668420A>TCA460782049ANK1c.5364T>A (p.Ser1788=)
c.5460T>A (p.Ser1820=)
c.5277T>A (p.Ser1759=)
c.5241T>A (p.Ser1747=)
c.1255T>A
c.813T>A
c.2719T>A
n.2635T>A
c.4755T>A (p.Ser1585=)
c.5505T>A (p.Ser1835=)
c.5406T>A (p.Ser1802=)
c.5340T>A (p.Ser1780=)
c.5322T>A (p.Ser1774=)
c.4974T>A (p.Ser1658=)
c.4854T>A (p.Ser1618=)
c.*22T>A (n.*22T>A)
n.5096T>A
c.5481T>A (p.Ser1827=)
c.5418T>A (p.Ser1806=)
c.5409T>A (p.Ser1803=)
c.5019T>A (p.Ser1673=)
c.4878T>A (p.Ser1626=)
c.5310T>A (p.Ser1770=)
8g.41668421G>ACA371051499ANK1c.5363C>T (p.Ser1788Phe)
c.5459C>T (p.Ser1820Phe)
c.5276C>T (p.Ser1759Phe)
c.5240C>T (p.Ser1747Phe)
c.1254C>T
c.812C>T
c.2718C>T
n.2634C>T
c.4754C>T (p.Ser1585Phe)
c.5504C>T (p.Ser1835Phe)
c.5405C>T (p.Ser1802Phe)
c.5339C>T (p.Ser1780Phe)
c.5321C>T (p.Ser1774Phe)
c.4973C>T (p.Ser1658Phe)
c.4853C>T (p.Ser1618Phe)
c.*21C>T (n.*21C>T)
n.5095C>T
c.5480C>T (p.Ser1827Phe)
c.5417C>T (p.Ser1806Phe)
c.5408C>T (p.Ser1803Phe)
c.5018C>T (p.Ser1673Phe)
c.4877C>T (p.Ser1626Phe)
c.5309C>T (p.Ser1770Phe)
8g.41668421G>CCA4727343ANK1c.5363C>G (p.Ser1788Cys)
c.5459C>G (p.Ser1820Cys)
c.5276C>G (p.Ser1759Cys)
c.5240C>G (p.Ser1747Cys)
c.1254C>G
c.812C>G
c.2718C>G
n.2634C>G
c.4754C>G (p.Ser1585Cys)
c.5504C>G (p.Ser1835Cys)
c.5405C>G (p.Ser1802Cys)
c.5339C>G (p.Ser1780Cys)
c.5321C>G (p.Ser1774Cys)
c.4973C>G (p.Ser1658Cys)
c.4853C>G (p.Ser1618Cys)
c.*21C>G (n.*21C>G)
n.5095C>G
c.5480C>G (p.Ser1827Cys)
c.5417C>G (p.Ser1806Cys)
c.5408C>G (p.Ser1803Cys)
c.5018C>G (p.Ser1673Cys)
c.4877C>G (p.Ser1626Cys)
c.5309C>G (p.Ser1770Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.41668421G=CA1779071190ANK1c.5363C= (p.Ser1788=)
c.5459C= (p.Ser1820=)
c.5276C= (p.Ser1759=)
c.5240C= (p.Ser1747=)
c.1254C=
c.812C=
c.2718C=
n.2634C=
c.4754C= (p.Ser1585=)
c.5504C= (p.Ser1835=)
c.5405C= (p.Ser1802=)
c.5339C= (p.Ser1780=)
c.5321C= (p.Ser1774=)
c.4973C= (p.Ser1658=)
c.4853C= (p.Ser1618=)
c.*21C= (n.*21C=)
n.5095C=
c.5480C= (p.Ser1827=)
c.5417C= (p.Ser1806=)
c.5408C= (p.Ser1803=)
c.5018C= (p.Ser1673=)
c.4877C= (p.Ser1626=)
c.5309C= (p.Ser1770=)
8g.41668421G>TCA371051502ANK1c.5363C>A (p.Ser1788Tyr)
c.5459C>A (p.Ser1820Tyr)
c.5276C>A (p.Ser1759Tyr)
c.5240C>A (p.Ser1747Tyr)
c.1254C>A
c.812C>A
c.2718C>A
n.2634C>A
c.4754C>A (p.Ser1585Tyr)
c.5504C>A (p.Ser1835Tyr)
c.5405C>A (p.Ser1802Tyr)
c.5339C>A (p.Ser1780Tyr)
c.5321C>A (p.Ser1774Tyr)
c.4973C>A (p.Ser1658Tyr)
c.4853C>A (p.Ser1618Tyr)
c.*21C>A (n.*21C>A)
n.5095C>A
c.5480C>A (p.Ser1827Tyr)
c.5417C>A (p.Ser1806Tyr)
c.5408C>A (p.Ser1803Tyr)
c.5018C>A (p.Ser1673Tyr)
c.4877C>A (p.Ser1626Tyr)
c.5309C>A (p.Ser1770Tyr)
8g.41668422A>CCA371051505ANK1c.5362T>G (p.Ser1788Ala)
c.5458T>G (p.Ser1820Ala)
c.5275T>G (p.Ser1759Ala)
c.5239T>G (p.Ser1747Ala)
c.1253T>G
c.811T>G
c.2717T>G
n.2633T>G
c.4753T>G (p.Ser1585Ala)
c.5503T>G (p.Ser1835Ala)
c.5404T>G (p.Ser1802Ala)
c.5338T>G (p.Ser1780Ala)
c.5320T>G (p.Ser1774Ala)
c.4972T>G (p.Ser1658Ala)
c.4852T>G (p.Ser1618Ala)
c.*20T>G (n.*20T>G)
n.5094T>G
c.5479T>G (p.Ser1827Ala)
c.5416T>G (p.Ser1806Ala)
c.5407T>G (p.Ser1803Ala)
c.5017T>G (p.Ser1673Ala)
c.4876T>G (p.Ser1626Ala)
c.5308T>G (p.Ser1770Ala)
8g.41668422A>GCA371051507ANK1c.5362T>C (p.Ser1788Pro)
c.5458T>C (p.Ser1820Pro)
c.5275T>C (p.Ser1759Pro)
c.5239T>C (p.Ser1747Pro)
c.1253T>C
c.811T>C
c.2717T>C
n.2633T>C
c.4753T>C (p.Ser1585Pro)
c.5503T>C (p.Ser1835Pro)
c.5404T>C (p.Ser1802Pro)
c.5338T>C (p.Ser1780Pro)
c.5320T>C (p.Ser1774Pro)
c.4972T>C (p.Ser1658Pro)
c.4852T>C (p.Ser1618Pro)
c.*20T>C (n.*20T>C)
n.5094T>C
c.5479T>C (p.Ser1827Pro)
c.5416T>C (p.Ser1806Pro)
c.5407T>C (p.Ser1803Pro)
c.5017T>C (p.Ser1673Pro)
c.4876T>C (p.Ser1626Pro)
c.5308T>C (p.Ser1770Pro)
8g.41668422A>TCA371051509ANK1c.5362T>A (p.Ser1788Thr)
c.5458T>A (p.Ser1820Thr)
c.5275T>A (p.Ser1759Thr)
c.5239T>A (p.Ser1747Thr)
c.1253T>A
c.811T>A
c.2717T>A
n.2633T>A
c.4753T>A (p.Ser1585Thr)
c.5503T>A (p.Ser1835Thr)
c.5404T>A (p.Ser1802Thr)
c.5338T>A (p.Ser1780Thr)
c.5320T>A (p.Ser1774Thr)
c.4972T>A (p.Ser1658Thr)
c.4852T>A (p.Ser1618Thr)
c.*20T>A (n.*20T>A)
n.5094T>A
c.5479T>A (p.Ser1827Thr)
c.5416T>A (p.Ser1806Thr)
c.5407T>A (p.Ser1803Thr)
c.5017T>A (p.Ser1673Thr)
c.4876T>A (p.Ser1626Thr)
c.5308T>A (p.Ser1770Thr)
8g.41668423T>ACA460782050ANK1c.5361A>T (p.Gly1787=)
c.5457A>T (p.Gly1819=)
c.5274A>T (p.Gly1758=)
c.5238A>T (p.Gly1746=)
c.1252A>T
c.810A>T
c.2716A>T
n.2632A>T
c.4752A>T (p.Gly1584=)
c.5502A>T (p.Gly1834=)
c.5403A>T (p.Gly1801=)
c.5337A>T (p.Gly1779=)
c.5319A>T (p.Gly1773=)
c.4971A>T (p.Gly1657=)
c.4851A>T (p.Gly1617=)
c.*19A>T (n.*19A>T)
n.5093A>T
c.5478A>T (p.Gly1826=)
c.5415A>T (p.Gly1805=)
c.5406A>T (p.Gly1802=)
c.5016A>T (p.Gly1672=)
c.4875A>T (p.Gly1625=)
c.5307A>T (p.Gly1769=)
8g.41668423T>CCA460782051ANK1c.5361A>G (p.Gly1787=)
c.5457A>G (p.Gly1819=)
c.5274A>G (p.Gly1758=)
c.5238A>G (p.Gly1746=)
c.1252A>G
c.810A>G
c.2716A>G
n.2632A>G
c.4752A>G (p.Gly1584=)
c.5502A>G (p.Gly1834=)
c.5403A>G (p.Gly1801=)
c.5337A>G (p.Gly1779=)
c.5319A>G (p.Gly1773=)
c.4971A>G (p.Gly1657=)
c.4851A>G (p.Gly1617=)
c.*19A>G (n.*19A>G)
n.5093A>G
c.5478A>G (p.Gly1826=)
c.5415A>G (p.Gly1805=)
c.5406A>G (p.Gly1802=)
c.5016A>G (p.Gly1672=)
c.4875A>G (p.Gly1625=)
c.5307A>G (p.Gly1769=)
 gnomAD v4
8g.41668423T>GCA460782052ANK1c.5361A>C (p.Gly1787=)
c.5457A>C (p.Gly1819=)
c.5274A>C (p.Gly1758=)
c.5238A>C (p.Gly1746=)
c.1252A>C
c.810A>C
c.2716A>C
n.2632A>C
c.4752A>C (p.Gly1584=)
c.5502A>C (p.Gly1834=)
c.5403A>C (p.Gly1801=)
c.5337A>C (p.Gly1779=)
c.5319A>C (p.Gly1773=)
c.4971A>C (p.Gly1657=)
c.4851A>C (p.Gly1617=)
c.*19A>C (n.*19A>C)
n.5093A>C
c.5478A>C (p.Gly1826=)
c.5415A>C (p.Gly1805=)
c.5406A>C (p.Gly1802=)
c.5016A>C (p.Gly1672=)
c.4875A>C (p.Gly1625=)
c.5307A>C (p.Gly1769=)
8g.41668424C>ACA371051512ANK1c.5360G>T (p.Gly1787Val)
c.5456G>T (p.Gly1819Val)
c.5273G>T (p.Gly1758Val)
c.5237G>T (p.Gly1746Val)
c.1251G>T
c.809G>T
c.2715G>T
n.2631G>T
c.4751G>T (p.Gly1584Val)
c.5501G>T (p.Gly1834Val)
c.5402G>T (p.Gly1801Val)
c.5336G>T (p.Gly1779Val)
c.5318G>T (p.Gly1773Val)
c.4970G>T (p.Gly1657Val)
c.4850G>T (p.Gly1617Val)
c.*18G>T (n.*18G>T)
n.5092G>T
c.5477G>T (p.Gly1826Val)
c.5414G>T (p.Gly1805Val)
c.5405G>T (p.Gly1802Val)
c.5015G>T (p.Gly1672Val)
c.4874G>T (p.Gly1625Val)
c.5306G>T (p.Gly1769Val)
 gnomAD v4
8g.41668424C>GCA371051513ANK1c.5360G>C (p.Gly1787Ala)
c.5456G>C (p.Gly1819Ala)
c.5273G>C (p.Gly1758Ala)
c.5237G>C (p.Gly1746Ala)
c.1251G>C
c.809G>C
c.2715G>C
n.2631G>C
c.4751G>C (p.Gly1584Ala)
c.5501G>C (p.Gly1834Ala)
c.5402G>C (p.Gly1801Ala)
c.5336G>C (p.Gly1779Ala)
c.5318G>C (p.Gly1773Ala)
c.4970G>C (p.Gly1657Ala)
c.4850G>C (p.Gly1617Ala)
c.*18G>C (n.*18G>C)
n.5092G>C
c.5477G>C (p.Gly1826Ala)
c.5414G>C (p.Gly1805Ala)
c.5405G>C (p.Gly1802Ala)
c.5015G>C (p.Gly1672Ala)
c.4874G>C (p.Gly1625Ala)
c.5306G>C (p.Gly1769Ala)
8g.41668424C>TCA371051515ANK1c.5360G>A (p.Gly1787Glu)
c.5456G>A (p.Gly1819Glu)
c.5273G>A (p.Gly1758Glu)
c.5237G>A (p.Gly1746Glu)
c.1251G>A
c.809G>A
c.2715G>A
n.2631G>A
c.4751G>A (p.Gly1584Glu)
c.5501G>A (p.Gly1834Glu)
c.5402G>A (p.Gly1801Glu)
c.5336G>A (p.Gly1779Glu)
c.5318G>A (p.Gly1773Glu)
c.4970G>A (p.Gly1657Glu)
c.4850G>A (p.Gly1617Glu)
c.*18G>A (n.*18G>A)
n.5092G>A
c.5477G>A (p.Gly1826Glu)
c.5414G>A (p.Gly1805Glu)
c.5405G>A (p.Gly1802Glu)
c.5015G>A (p.Gly1672Glu)
c.4874G>A (p.Gly1625Glu)
c.5306G>A (p.Gly1769Glu)
8g.41668425C>ACA371051517ANK1c.5359G>T (p.Gly1787Ter)
c.5455G>T (p.Gly1819Ter)
c.5272G>T (p.Gly1758Ter)
c.5236G>T (p.Gly1746Ter)
c.1250G>T
c.808G>T
c.2714G>T
n.2630G>T
c.4750G>T (p.Gly1584Ter)
c.5500G>T (p.Gly1834Ter)
c.5401G>T (p.Gly1801Ter)
c.5335G>T (p.Gly1779Ter)
c.5317G>T (p.Gly1773Ter)
c.4969G>T (p.Gly1657Ter)
c.4849G>T (p.Gly1617Ter)
c.*17G>T (n.*17G>T)
n.5091G>T
c.5476G>T (p.Gly1826Ter)
c.5413G>T (p.Gly1805Ter)
c.5404G>T (p.Gly1802Ter)
c.5014G>T (p.Gly1672Ter)
c.4873G>T (p.Gly1625Ter)
c.5305G>T (p.Gly1769Ter)
8g.41668425C>GCA371051518ANK1c.5359G>C (p.Gly1787Arg)
c.5455G>C (p.Gly1819Arg)
c.5272G>C (p.Gly1758Arg)
c.5236G>C (p.Gly1746Arg)
c.1250G>C
c.808G>C
c.2714G>C
n.2630G>C
c.4750G>C (p.Gly1584Arg)
c.5500G>C (p.Gly1834Arg)
c.5401G>C (p.Gly1801Arg)
c.5335G>C (p.Gly1779Arg)
c.5317G>C (p.Gly1773Arg)
c.4969G>C (p.Gly1657Arg)
c.4849G>C (p.Gly1617Arg)
c.*17G>C (n.*17G>C)
n.5091G>C
c.5476G>C (p.Gly1826Arg)
c.5413G>C (p.Gly1805Arg)
c.5404G>C (p.Gly1802Arg)
c.5014G>C (p.Gly1672Arg)
c.4873G>C (p.Gly1625Arg)
c.5305G>C (p.Gly1769Arg)
8g.41668425C>TCA371051520ANK1c.5359G>A (p.Gly1787Arg)
c.5455G>A (p.Gly1819Arg)
c.5272G>A (p.Gly1758Arg)
c.5236G>A (p.Gly1746Arg)
c.1250G>A
c.808G>A
c.2714G>A
n.2630G>A
c.4750G>A (p.Gly1584Arg)
c.5500G>A (p.Gly1834Arg)
c.5401G>A (p.Gly1801Arg)
c.5335G>A (p.Gly1779Arg)
c.5317G>A (p.Gly1773Arg)
c.4969G>A (p.Gly1657Arg)
c.4849G>A (p.Gly1617Arg)
c.*17G>A (n.*17G>A)
n.5091G>A
c.5476G>A (p.Gly1826Arg)
c.5413G>A (p.Gly1805Arg)
c.5404G>A (p.Gly1802Arg)
c.5014G>A (p.Gly1672Arg)
c.4873G>A (p.Gly1625Arg)
c.5305G>A (p.Gly1769Arg)
8g.41668426A>CCA460782054ANK1c.5358T>G (p.Gly1786=)
c.5454T>G (p.Gly1818=)
c.5271T>G (p.Gly1757=)
c.5235T>G (p.Gly1745=)
c.1249T>G
c.807T>G
c.2713T>G
n.2629T>G
c.4749T>G (p.Gly1583=)
c.5499T>G (p.Gly1833=)
c.5400T>G (p.Gly1800=)
c.5334T>G (p.Gly1778=)
c.5316T>G (p.Gly1772=)
c.4968T>G (p.Gly1656=)
c.4848T>G (p.Gly1616=)
c.*16T>G (n.*16T>G)
n.5090T>G
c.5475T>G (p.Gly1825=)
c.5412T>G (p.Gly1804=)
c.5403T>G (p.Gly1801=)
c.5013T>G (p.Gly1671=)
c.4872T>G (p.Gly1624=)
c.5304T>G (p.Gly1768=)
8g.41668426A>GCA460782055ANK1c.5358T>C (p.Gly1786=)
c.5454T>C (p.Gly1818=)
c.5271T>C (p.Gly1757=)
c.5235T>C (p.Gly1745=)
c.1249T>C
c.807T>C
c.2713T>C
n.2629T>C
c.4749T>C (p.Gly1583=)
c.5499T>C (p.Gly1833=)
c.5400T>C (p.Gly1800=)
c.5334T>C (p.Gly1778=)
c.5316T>C (p.Gly1772=)
c.4968T>C (p.Gly1656=)
c.4848T>C (p.Gly1616=)
c.*16T>C (n.*16T>C)
n.5090T>C
c.5475T>C (p.Gly1825=)
c.5412T>C (p.Gly1804=)
c.5403T>C (p.Gly1801=)
c.5013T>C (p.Gly1671=)
c.4872T>C (p.Gly1624=)
c.5304T>C (p.Gly1768=)
8g.41668426A>TCA460782053ANK1c.5358T>A (p.Gly1786=)
c.5454T>A (p.Gly1818=)
c.5271T>A (p.Gly1757=)
c.5235T>A (p.Gly1745=)
c.1249T>A
c.807T>A
c.2713T>A
n.2629T>A
c.4749T>A (p.Gly1583=)
c.5499T>A (p.Gly1833=)
c.5400T>A (p.Gly1800=)
c.5334T>A (p.Gly1778=)
c.5316T>A (p.Gly1772=)
c.4968T>A (p.Gly1656=)
c.4848T>A (p.Gly1616=)
c.*16T>A (n.*16T>A)
n.5090T>A
c.5475T>A (p.Gly1825=)
c.5412T>A (p.Gly1804=)
c.5403T>A (p.Gly1801=)
c.5013T>A (p.Gly1671=)
c.4872T>A (p.Gly1624=)
c.5304T>A (p.Gly1768=)
 gnomAD v4
8g.41668427C>ACA371051525ANK1c.5357G>T (p.Gly1786Val)
c.5453G>T (p.Gly1818Val)
c.5270G>T (p.Gly1757Val)
c.5234G>T (p.Gly1745Val)
c.1248G>T
c.806G>T
c.2712G>T
n.2628G>T
c.4748G>T (p.Gly1583Val)
c.5498G>T (p.Gly1833Val)
c.5399G>T (p.Gly1800Val)
c.5333G>T (p.Gly1778Val)
c.5315G>T (p.Gly1772Val)
c.4967G>T (p.Gly1656Val)
c.4847G>T (p.Gly1616Val)
c.*15G>T (n.*15G>T)
n.5089G>T
c.5474G>T (p.Gly1825Val)
c.5411G>T (p.Gly1804Val)
c.5402G>T (p.Gly1801Val)
c.5012G>T (p.Gly1671Val)
c.4871G>T (p.Gly1624Val)
c.5303G>T (p.Gly1768Val)
 dbSNP gnomAD v3 gnomAD v4
8g.41668427C=CA1779071195ANK1c.5357G= (p.Gly1786=)
c.5453G= (p.Gly1818=)
c.5270G= (p.Gly1757=)
c.5234G= (p.Gly1745=)
c.1248G=
c.806G=
c.2712G=
n.2628G=
c.4748G= (p.Gly1583=)
c.5498G= (p.Gly1833=)
c.5399G= (p.Gly1800=)
c.5333G= (p.Gly1778=)
c.5315G= (p.Gly1772=)
c.4967G= (p.Gly1656=)
c.4847G= (p.Gly1616=)
c.*15G= (n.*15G=)
n.5089G=
c.5474G= (p.Gly1825=)
c.5411G= (p.Gly1804=)
c.5402G= (p.Gly1801=)
c.5012G= (p.Gly1671=)
c.4871G= (p.Gly1624=)
c.5303G= (p.Gly1768=)
8g.41668427C>GCA371051523ANK1c.5357G>C (p.Gly1786Ala)
c.5453G>C (p.Gly1818Ala)
c.5270G>C (p.Gly1757Ala)
c.5234G>C (p.Gly1745Ala)
c.1248G>C
c.806G>C
c.2712G>C
n.2628G>C
c.4748G>C (p.Gly1583Ala)
c.5498G>C (p.Gly1833Ala)
c.5399G>C (p.Gly1800Ala)
c.5333G>C (p.Gly1778Ala)
c.5315G>C (p.Gly1772Ala)
c.4967G>C (p.Gly1656Ala)
c.4847G>C (p.Gly1616Ala)
c.*15G>C (n.*15G>C)
n.5089G>C
c.5474G>C (p.Gly1825Ala)
c.5411G>C (p.Gly1804Ala)
c.5402G>C (p.Gly1801Ala)
c.5012G>C (p.Gly1671Ala)
c.4871G>C (p.Gly1624Ala)
c.5303G>C (p.Gly1768Ala)
8g.41668427C>TCA4727344ANK1c.5357G>A (p.Gly1786Asp)
c.5453G>A (p.Gly1818Asp)
c.5270G>A (p.Gly1757Asp)
c.5234G>A (p.Gly1745Asp)
c.1248G>A
c.806G>A
c.2712G>A
n.2628G>A
c.4748G>A (p.Gly1583Asp)
c.5498G>A (p.Gly1833Asp)
c.5399G>A (p.Gly1800Asp)
c.5333G>A (p.Gly1778Asp)
c.5315G>A (p.Gly1772Asp)
c.4967G>A (p.Gly1656Asp)
c.4847G>A (p.Gly1616Asp)
c.*15G>A (n.*15G>A)
n.5089G>A
c.5474G>A (p.Gly1825Asp)
c.5411G>A (p.Gly1804Asp)
c.5402G>A (p.Gly1801Asp)
c.5012G>A (p.Gly1671Asp)
c.4871G>A (p.Gly1624Asp)
c.5303G>A (p.Gly1768Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.41668428C>ACA371051526ANK1c.5356G>T (p.Gly1786Cys)
c.5452G>T (p.Gly1818Cys)
c.5269G>T (p.Gly1757Cys)
c.5233G>T (p.Gly1745Cys)
c.1247G>T
c.805G>T
c.2711G>T
n.2627G>T
c.4747G>T (p.Gly1583Cys)
c.5497G>T (p.Gly1833Cys)
c.5398G>T (p.Gly1800Cys)
c.5332G>T (p.Gly1778Cys)
c.5314G>T (p.Gly1772Cys)
c.4966G>T (p.Gly1656Cys)
c.4846G>T (p.Gly1616Cys)
c.*14G>T (n.*14G>T)
n.5088G>T
c.5473G>T (p.Gly1825Cys)
c.5410G>T (p.Gly1804Cys)
c.5401G>T (p.Gly1801Cys)
c.5011G>T (p.Gly1671Cys)
c.4870G>T (p.Gly1624Cys)
c.5302G>T (p.Gly1768Cys)
8g.41668428C=CA1779071199ANK1c.5356G= (p.Gly1786=)
c.5452G= (p.Gly1818=)
c.5269G= (p.Gly1757=)
c.5233G= (p.Gly1745=)
c.1247G=
c.805G=
c.2711G=
n.2627G=
c.4747G= (p.Gly1583=)
c.5497G= (p.Gly1833=)
c.5398G= (p.Gly1800=)
c.5332G= (p.Gly1778=)
c.5314G= (p.Gly1772=)
c.4966G= (p.Gly1656=)
c.4846G= (p.Gly1616=)
c.*14G= (n.*14G=)
n.5088G=
c.5473G= (p.Gly1825=)
c.5410G= (p.Gly1804=)
c.5401G= (p.Gly1801=)
c.5011G= (p.Gly1671=)
c.4870G= (p.Gly1624=)
c.5302G= (p.Gly1768=)
8g.41668428C>GCA371051528ANK1c.5356G>C (p.Gly1786Arg)
c.5452G>C (p.Gly1818Arg)
c.5269G>C (p.Gly1757Arg)
c.5233G>C (p.Gly1745Arg)
c.1247G>C
c.805G>C
c.2711G>C
n.2627G>C
c.4747G>C (p.Gly1583Arg)
c.5497G>C (p.Gly1833Arg)
c.5398G>C (p.Gly1800Arg)
c.5332G>C (p.Gly1778Arg)
c.5314G>C (p.Gly1772Arg)
c.4966G>C (p.Gly1656Arg)
c.4846G>C (p.Gly1616Arg)
c.*14G>C (n.*14G>C)
n.5088G>C
c.5473G>C (p.Gly1825Arg)
c.5410G>C (p.Gly1804Arg)
c.5401G>C (p.Gly1801Arg)
c.5011G>C (p.Gly1671Arg)
c.4870G>C (p.Gly1624Arg)
c.5302G>C (p.Gly1768Arg)
8g.41668428C>TCA4727345ANK1c.5356G>A (p.Gly1786Ser)
c.5452G>A (p.Gly1818Ser)
c.5269G>A (p.Gly1757Ser)
c.5233G>A (p.Gly1745Ser)
c.1247G>A
c.805G>A
c.2711G>A
n.2627G>A
c.4747G>A (p.Gly1583Ser)
c.5497G>A (p.Gly1833Ser)
c.5398G>A (p.Gly1800Ser)
c.5332G>A (p.Gly1778Ser)
c.5314G>A (p.Gly1772Ser)
c.4966G>A (p.Gly1656Ser)
c.4846G>A (p.Gly1616Ser)
c.*14G>A (n.*14G>A)
n.5088G>A
c.5473G>A (p.Gly1825Ser)
c.5410G>A (p.Gly1804Ser)
c.5401G>A (p.Gly1801Ser)
c.5011G>A (p.Gly1671Ser)
c.4870G>A (p.Gly1624Ser)
c.5302G>A (p.Gly1768Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41668429G>ACA4727346ANK1c.5355C>T (p.Pro1785=)
c.5451C>T (p.Pro1817=)
c.5268C>T (p.Pro1756=)
c.5232C>T (p.Pro1744=)
c.1246C>T
c.804C>T
c.2710C>T
n.2626C>T
c.4746C>T (p.Pro1582=)
c.5496C>T (p.Pro1832=)
c.5397C>T (p.Pro1799=)
c.5331C>T (p.Pro1777=)
c.5313C>T (p.Pro1771=)
c.4965C>T (p.Pro1655=)
c.4845C>T (p.Pro1615=)
c.*13C>T (n.*13C>T)
n.5087C>T
c.5472C>T (p.Pro1824=)
c.5409C>T (p.Pro1803=)
c.5400C>T (p.Pro1800=)
c.5010C>T (p.Pro1670=)
c.4869C>T (p.Pro1623=)
c.5301C>T (p.Pro1767=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.41668429G>CCA460782057ANK1c.5355C>G (p.Pro1785=)
c.5451C>G (p.Pro1817=)
c.5268C>G (p.Pro1756=)
c.5232C>G (p.Pro1744=)
c.1246C>G
c.804C>G
c.2710C>G
n.2626C>G
c.4746C>G (p.Pro1582=)
c.5496C>G (p.Pro1832=)
c.5397C>G (p.Pro1799=)
c.5331C>G (p.Pro1777=)
c.5313C>G (p.Pro1771=)
c.4965C>G (p.Pro1655=)
c.4845C>G (p.Pro1615=)
c.*13C>G (n.*13C>G)
n.5087C>G
c.5472C>G (p.Pro1824=)
c.5409C>G (p.Pro1803=)
c.5400C>G (p.Pro1800=)
c.5010C>G (p.Pro1670=)
c.4869C>G (p.Pro1623=)
c.5301C>G (p.Pro1767=)
8g.41668429G=CA1779071208ANK1c.5355C= (p.Pro1785=)
c.5451C= (p.Pro1817=)
c.5268C= (p.Pro1756=)
c.5232C= (p.Pro1744=)
c.1246C=
c.804C=
c.2710C=
n.2626C=
c.4746C= (p.Pro1582=)
c.5496C= (p.Pro1832=)
c.5397C= (p.Pro1799=)
c.5331C= (p.Pro1777=)
c.5313C= (p.Pro1771=)
c.4965C= (p.Pro1655=)
c.4845C= (p.Pro1615=)
c.*13C= (n.*13C=)
n.5087C=
c.5472C= (p.Pro1824=)
c.5409C= (p.Pro1803=)
c.5400C= (p.Pro1800=)
c.5010C= (p.Pro1670=)
c.4869C= (p.Pro1623=)
c.5301C= (p.Pro1767=)
8g.41668429G>TCA460782056ANK1c.5355C>A (p.Pro1785=)
c.5451C>A (p.Pro1817=)
c.5268C>A (p.Pro1756=)
c.5232C>A (p.Pro1744=)
c.1246C>A
c.804C>A
c.2710C>A
n.2626C>A
c.4746C>A (p.Pro1582=)
c.5496C>A (p.Pro1832=)
c.5397C>A (p.Pro1799=)
c.5331C>A (p.Pro1777=)
c.5313C>A (p.Pro1771=)
c.4965C>A (p.Pro1655=)
c.4845C>A (p.Pro1615=)
c.*13C>A (n.*13C>A)
n.5087C>A
c.5472C>A (p.Pro1824=)
c.5409C>A (p.Pro1803=)
c.5400C>A (p.Pro1800=)
c.5010C>A (p.Pro1670=)
c.4869C>A (p.Pro1623=)
c.5301C>A (p.Pro1767=)
8g.41668431delCA2579152467ANK1c.5355del (p.Gly1786ValfsTer13)
c.5451del (p.Gly1818ValfsTer13)
c.5268del (p.Gly1757ValfsTer13)
c.5232del (p.Gly1745ValfsTer13)
c.1246del
c.804del
c.2710del
n.2626del
c.4746del (p.Gly1583ValfsTer13)
c.5496del (p.Gly1833ValfsTer13)
c.5397del (p.Gly1800ValfsTer13)
c.5331del (p.Gly1778ValfsTer13)
c.5313del (p.Gly1772ValfsTer13)
c.4965del (p.Gly1656ValfsTer13)
c.4845del (p.Gly1616ValfsTer13)
c.*13del (n.*13del)
n.5087del
c.5472del (p.Gly1825ValfsTer13)
c.5409del (p.Gly1804ValfsTer13)
c.5400del (p.Gly1801ValfsTer13)
c.5010del (p.Gly1671ValfsTer13)
c.4869del (p.Gly1624ValfsTer13)
c.5301del (p.Gly1768ValfsTer13)
8g.41668430G>ACA371051534ANK1c.5354C>T (p.Pro1785Leu)
c.5450C>T (p.Pro1817Leu)
c.5267C>T (p.Pro1756Leu)
c.5231C>T (p.Pro1744Leu)
c.1245C>T
c.803C>T
c.2709C>T
n.2625C>T
c.4745C>T (p.Pro1582Leu)
c.5495C>T (p.Pro1832Leu)
c.5396C>T (p.Pro1799Leu)
c.5330C>T (p.Pro1777Leu)
c.5312C>T (p.Pro1771Leu)
c.4964C>T (p.Pro1655Leu)
c.4844C>T (p.Pro1615Leu)
c.*12C>T (n.*12C>T)
n.5086C>T
c.5471C>T (p.Pro1824Leu)
c.5408C>T (p.Pro1803Leu)
c.5399C>T (p.Pro1800Leu)
c.5009C>T (p.Pro1670Leu)
c.4868C>T (p.Pro1623Leu)
c.5300C>T (p.Pro1767Leu)
8g.41668430G>CCA371051535ANK1c.5354C>G (p.Pro1785Arg)
c.5450C>G (p.Pro1817Arg)
c.5267C>G (p.Pro1756Arg)
c.5231C>G (p.Pro1744Arg)
c.1245C>G
c.803C>G
c.2709C>G
n.2625C>G
c.4745C>G (p.Pro1582Arg)
c.5495C>G (p.Pro1832Arg)
c.5396C>G (p.Pro1799Arg)
c.5330C>G (p.Pro1777Arg)
c.5312C>G (p.Pro1771Arg)
c.4964C>G (p.Pro1655Arg)
c.4844C>G (p.Pro1615Arg)
c.*12C>G (n.*12C>G)
n.5086C>G
c.5471C>G (p.Pro1824Arg)
c.5408C>G (p.Pro1803Arg)
c.5399C>G (p.Pro1800Arg)
c.5009C>G (p.Pro1670Arg)
c.4868C>G (p.Pro1623Arg)
c.5300C>G (p.Pro1767Arg)
8g.41668430G>TCA371051538ANK1c.5354C>A (p.Pro1785His)
c.5450C>A (p.Pro1817His)
c.5267C>A (p.Pro1756His)
c.5231C>A (p.Pro1744His)
c.1245C>A
c.803C>A
c.2709C>A
n.2625C>A
c.4745C>A (p.Pro1582His)
c.5495C>A (p.Pro1832His)
c.5396C>A (p.Pro1799His)
c.5330C>A (p.Pro1777His)
c.5312C>A (p.Pro1771His)
c.4964C>A (p.Pro1655His)
c.4844C>A (p.Pro1615His)
c.*12C>A (n.*12C>A)
n.5086C>A
c.5471C>A (p.Pro1824His)
c.5408C>A (p.Pro1803His)
c.5399C>A (p.Pro1800His)
c.5009C>A (p.Pro1670His)
c.4868C>A (p.Pro1623His)
c.5300C>A (p.Pro1767His)
8g.41668431G>ACA371051539ANK1c.5353C>T (p.Pro1785Ser)
c.5449C>T (p.Pro1817Ser)
c.5266C>T (p.Pro1756Ser)
c.5230C>T (p.Pro1744Ser)
c.1244C>T
c.802C>T
c.2708C>T
n.2624C>T
c.4744C>T (p.Pro1582Ser)
c.5494C>T (p.Pro1832Ser)
c.5395C>T (p.Pro1799Ser)
c.5329C>T (p.Pro1777Ser)
c.5311C>T (p.Pro1771Ser)
c.4963C>T (p.Pro1655Ser)
c.4843C>T (p.Pro1615Ser)
c.*11C>T (n.*11C>T)
n.5085C>T
c.5470C>T (p.Pro1824Ser)
c.5407C>T (p.Pro1803Ser)
c.5398C>T (p.Pro1800Ser)
c.5008C>T (p.Pro1670Ser)
c.4867C>T (p.Pro1623Ser)
c.5299C>T (p.Pro1767Ser)
8g.41668431G>CCA4727347ANK1c.5353C>G (p.Pro1785Ala)
c.5449C>G (p.Pro1817Ala)
c.5266C>G (p.Pro1756Ala)
c.5230C>G (p.Pro1744Ala)
c.1244C>G
c.802C>G
c.2708C>G
n.2624C>G
c.4744C>G (p.Pro1582Ala)
c.5494C>G (p.Pro1832Ala)
c.5395C>G (p.Pro1799Ala)
c.5329C>G (p.Pro1777Ala)
c.5311C>G (p.Pro1771Ala)
c.4963C>G (p.Pro1655Ala)
c.4843C>G (p.Pro1615Ala)
c.*11C>G (n.*11C>G)
n.5085C>G
c.5470C>G (p.Pro1824Ala)
c.5407C>G (p.Pro1803Ala)
c.5398C>G (p.Pro1800Ala)
c.5008C>G (p.Pro1670Ala)
c.4867C>G (p.Pro1623Ala)
c.5299C>G (p.Pro1767Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41668431G=CA1779071214ANK1c.5353C= (p.Pro1785=)
c.5449C= (p.Pro1817=)
c.5266C= (p.Pro1756=)
c.5230C= (p.Pro1744=)
c.1244C=
c.802C=
c.2708C=
n.2624C=
c.4744C= (p.Pro1582=)
c.5494C= (p.Pro1832=)
c.5395C= (p.Pro1799=)
c.5329C= (p.Pro1777=)
c.5311C= (p.Pro1771=)
c.4963C= (p.Pro1655=)
c.4843C= (p.Pro1615=)
c.*11C= (n.*11C=)
n.5085C=
c.5470C= (p.Pro1824=)
c.5407C= (p.Pro1803=)
c.5398C= (p.Pro1800=)
c.5008C= (p.Pro1670=)
c.4867C= (p.Pro1623=)
c.5299C= (p.Pro1767=)
8g.41668431G>TCA371051542ANK1c.5353C>A (p.Pro1785Thr)
c.5449C>A (p.Pro1817Thr)
c.5266C>A (p.Pro1756Thr)
c.5230C>A (p.Pro1744Thr)
c.1244C>A
c.802C>A
c.2708C>A
n.2624C>A
c.4744C>A (p.Pro1582Thr)
c.5494C>A (p.Pro1832Thr)
c.5395C>A (p.Pro1799Thr)
c.5329C>A (p.Pro1777Thr)
c.5311C>A (p.Pro1771Thr)
c.4963C>A (p.Pro1655Thr)
c.4843C>A (p.Pro1615Thr)
c.*11C>A (n.*11C>A)
n.5085C>A
c.5470C>A (p.Pro1824Thr)
c.5407C>A (p.Pro1803Thr)
c.5398C>A (p.Pro1800Thr)
c.5008C>A (p.Pro1670Thr)
c.4867C>A (p.Pro1623Thr)
c.5299C>A (p.Pro1767Thr)
8g.41668432C>ACA371051543ANK1c.5352G>T (p.Glu1784Asp)
c.5448G>T (p.Glu1816Asp)
c.5265G>T (p.Glu1755Asp)
c.5229G>T (p.Glu1743Asp)
c.1243G>T
c.801G>T
c.2707G>T
n.2623G>T
c.4743G>T (p.Glu1581Asp)
c.5493G>T (p.Glu1831Asp)
c.5394G>T (p.Glu1798Asp)
c.5328G>T (p.Glu1776Asp)
c.5310G>T (p.Glu1770Asp)
c.4962G>T (p.Glu1654Asp)
c.4842G>T (p.Glu1614Asp)
c.*10G>T (n.*10G>T)
n.5084G>T
c.5469G>T (p.Glu1823Asp)
c.5406G>T (p.Glu1802Asp)
c.5397G>T (p.Glu1799Asp)
c.5007G>T (p.Glu1669Asp)
c.4866G>T (p.Glu1622Asp)
c.5298G>T (p.Glu1766Asp)
8g.41668432C>GCA371051544ANK1c.5352G>C (p.Glu1784Asp)
c.5448G>C (p.Glu1816Asp)
c.5265G>C (p.Glu1755Asp)
c.5229G>C (p.Glu1743Asp)
c.1243G>C
c.801G>C
c.2707G>C
n.2623G>C
c.4743G>C (p.Glu1581Asp)
c.5493G>C (p.Glu1831Asp)
c.5394G>C (p.Glu1798Asp)
c.5328G>C (p.Glu1776Asp)
c.5310G>C (p.Glu1770Asp)
c.4962G>C (p.Glu1654Asp)
c.4842G>C (p.Glu1614Asp)
c.*10G>C (n.*10G>C)
n.5084G>C
c.5469G>C (p.Glu1823Asp)
c.5406G>C (p.Glu1802Asp)
c.5397G>C (p.Glu1799Asp)
c.5007G>C (p.Glu1669Asp)
c.4866G>C (p.Glu1622Asp)
c.5298G>C (p.Glu1766Asp)
8g.41668432C>TCA460782058ANK1c.5352G>A (p.Glu1784=)
c.5448G>A (p.Glu1816=)
c.5265G>A (p.Glu1755=)
c.5229G>A (p.Glu1743=)
c.1243G>A
c.801G>A
c.2707G>A
n.2623G>A
c.4743G>A (p.Glu1581=)
c.5493G>A (p.Glu1831=)
c.5394G>A (p.Glu1798=)
c.5328G>A (p.Glu1776=)
c.5310G>A (p.Glu1770=)
c.4962G>A (p.Glu1654=)
c.4842G>A (p.Glu1614=)
c.*10G>A (n.*10G>A)
n.5084G>A
c.5469G>A (p.Glu1823=)
c.5406G>A (p.Glu1802=)
c.5397G>A (p.Glu1799=)
c.5007G>A (p.Glu1669=)
c.4866G>A (p.Glu1622=)
c.5298G>A (p.Glu1766=)
 gnomAD v4 COSMIC COSMIC
8g.41668433T>ACA371051549ANK1c.5351A>T (p.Glu1784Val)
c.5447A>T (p.Glu1816Val)
c.5264A>T (p.Glu1755Val)
c.5228A>T (p.Glu1743Val)
c.1242A>T
c.800A>T
c.2706A>T
n.2622A>T
c.4742A>T (p.Glu1581Val)
c.5492A>T (p.Glu1831Val)
c.5393A>T (p.Glu1798Val)
c.5327A>T (p.Glu1776Val)
c.5309A>T (p.Glu1770Val)
c.4961A>T (p.Glu1654Val)
c.4841A>T (p.Glu1614Val)
c.*9A>T (n.*9A>T)
n.5083A>T
c.5468A>T (p.Glu1823Val)
c.5405A>T (p.Glu1802Val)
c.5396A>T (p.Glu1799Val)
c.5006A>T (p.Glu1669Val)
c.4865A>T (p.Glu1622Val)
c.5297A>T (p.Glu1766Val)
8g.41668433T>CCA371051548ANK1c.5351A>G (p.Glu1784Gly)
c.5447A>G (p.Glu1816Gly)
c.5264A>G (p.Glu1755Gly)
c.5228A>G (p.Glu1743Gly)
c.1242A>G
c.800A>G
c.2706A>G
n.2622A>G
c.4742A>G (p.Glu1581Gly)
c.5492A>G (p.Glu1831Gly)
c.5393A>G (p.Glu1798Gly)
c.5327A>G (p.Glu1776Gly)
c.5309A>G (p.Glu1770Gly)
c.4961A>G (p.Glu1654Gly)
c.4841A>G (p.Glu1614Gly)
c.*9A>G (n.*9A>G)
n.5083A>G
c.5468A>G (p.Glu1823Gly)
c.5405A>G (p.Glu1802Gly)
c.5396A>G (p.Glu1799Gly)
c.5006A>G (p.Glu1669Gly)
c.4865A>G (p.Glu1622Gly)
c.5297A>G (p.Glu1766Gly)
 dbSNP
8g.41668433T>GCA371051547ANK1c.5351A>C (p.Glu1784Ala)
c.5447A>C (p.Glu1816Ala)
c.5264A>C (p.Glu1755Ala)
c.5228A>C (p.Glu1743Ala)
c.1242A>C
c.800A>C
c.2706A>C
n.2622A>C
c.4742A>C (p.Glu1581Ala)
c.5492A>C (p.Glu1831Ala)
c.5393A>C (p.Glu1798Ala)
c.5327A>C (p.Glu1776Ala)
c.5309A>C (p.Glu1770Ala)
c.4961A>C (p.Glu1654Ala)
c.4841A>C (p.Glu1614Ala)
c.*9A>C (n.*9A>C)
n.5083A>C
c.5468A>C (p.Glu1823Ala)
c.5405A>C (p.Glu1802Ala)
c.5396A>C (p.Glu1799Ala)
c.5006A>C (p.Glu1669Ala)
c.4865A>C (p.Glu1622Ala)
c.5297A>C (p.Glu1766Ala)
8g.41668433T=CA1779071217ANK1c.5351A= (p.Glu1784=)
c.5447A= (p.Glu1816=)
c.5264A= (p.Glu1755=)
c.5228A= (p.Glu1743=)
c.1242A=
c.800A=
c.2706A=
n.2622A=
c.4742A= (p.Glu1581=)
c.5492A= (p.Glu1831=)
c.5393A= (p.Glu1798=)
c.5327A= (p.Glu1776=)
c.5309A= (p.Glu1770=)
c.4961A= (p.Glu1654=)
c.4841A= (p.Glu1614=)
c.*9A= (n.*9A=)
n.5083A=
c.5468A= (p.Glu1823=)
c.5405A= (p.Glu1802=)
c.5396A= (p.Glu1799=)
c.5006A= (p.Glu1669=)
c.4865A= (p.Glu1622=)
c.5297A= (p.Glu1766=)
8g.41668434C>ACA371051550ANK1c.5350G>T (p.Glu1784Ter)
c.5446G>T (p.Glu1816Ter)
c.5263G>T (p.Glu1755Ter)
c.5227G>T (p.Glu1743Ter)
c.1241G>T
c.799G>T
c.2705G>T
n.2621G>T
c.4741G>T (p.Glu1581Ter)
c.5491G>T (p.Glu1831Ter)
c.5392G>T (p.Glu1798Ter)
c.5326G>T (p.Glu1776Ter)
c.5308G>T (p.Glu1770Ter)
c.4960G>T (p.Glu1654Ter)
c.4840G>T (p.Glu1614Ter)
c.*8G>T (n.*8G>T)
n.5082G>T
c.5467G>T (p.Glu1823Ter)
c.5404G>T (p.Glu1802Ter)
c.5395G>T (p.Glu1799Ter)
c.5005G>T (p.Glu1669Ter)
c.4864G>T (p.Glu1622Ter)
c.5296G>T (p.Glu1766Ter)
8g.41668434C>GCA371051553ANK1c.5350G>C (p.Glu1784Gln)
c.5446G>C (p.Glu1816Gln)
c.5263G>C (p.Glu1755Gln)
c.5227G>C (p.Glu1743Gln)
c.1241G>C
c.799G>C
c.2705G>C
n.2621G>C
c.4741G>C (p.Glu1581Gln)
c.5491G>C (p.Glu1831Gln)
c.5392G>C (p.Glu1798Gln)
c.5326G>C (p.Glu1776Gln)
c.5308G>C (p.Glu1770Gln)
c.4960G>C (p.Glu1654Gln)
c.4840G>C (p.Glu1614Gln)
c.*8G>C (n.*8G>C)
n.5082G>C
c.5467G>C (p.Glu1823Gln)
c.5404G>C (p.Glu1802Gln)
c.5395G>C (p.Glu1799Gln)
c.5005G>C (p.Glu1669Gln)
c.4864G>C (p.Glu1622Gln)
c.5296G>C (p.Glu1766Gln)
 gnomAD v4
8g.41668434C>TCA371051552ANK1c.5350G>A (p.Glu1784Lys)
c.5446G>A (p.Glu1816Lys)
c.5263G>A (p.Glu1755Lys)
c.5227G>A (p.Glu1743Lys)
c.1241G>A
c.799G>A
c.2705G>A
n.2621G>A
c.4741G>A (p.Glu1581Lys)
c.5491G>A (p.Glu1831Lys)
c.5392G>A (p.Glu1798Lys)
c.5326G>A (p.Glu1776Lys)
c.5308G>A (p.Glu1770Lys)
c.4960G>A (p.Glu1654Lys)
c.4840G>A (p.Glu1614Lys)
c.*8G>A (n.*8G>A)
n.5082G>A
c.5467G>A (p.Glu1823Lys)
c.5404G>A (p.Glu1802Lys)
c.5395G>A (p.Glu1799Lys)
c.5005G>A (p.Glu1669Lys)
c.4864G>A (p.Glu1622Lys)
c.5296G>A (p.Glu1766Lys)
8g.41668435T>ACA460782059ANK1c.5349A>T (p.Leu1783=)
c.5445A>T (p.Leu1815=)
c.5262A>T (p.Leu1754=)
c.5226A>T (p.Leu1742=)
c.1240A>T
c.798A>T
c.2704A>T
n.2620A>T
c.4740A>T (p.Leu1580=)
c.5490A>T (p.Leu1830=)
c.5391A>T (p.Leu1797=)
c.5325A>T (p.Leu1775=)
c.5307A>T (p.Leu1769=)
c.4959A>T (p.Leu1653=)
c.4839A>T (p.Leu1613=)
c.*7A>T (n.*7A>T)
n.5081A>T
c.5466A>T (p.Leu1822=)
c.5403A>T (p.Leu1801=)
c.5394A>T (p.Leu1798=)
c.5004A>T (p.Leu1668=)
c.4863A>T (p.Leu1621=)
c.5295A>T (p.Leu1765=)
8g.41668435T>CCA460782060ANK1c.5349A>G (p.Leu1783=)
c.5445A>G (p.Leu1815=)
c.5262A>G (p.Leu1754=)
c.5226A>G (p.Leu1742=)
c.1240A>G
c.798A>G
c.2704A>G
n.2620A>G
c.4740A>G (p.Leu1580=)
c.5490A>G (p.Leu1830=)
c.5391A>G (p.Leu1797=)
c.5325A>G (p.Leu1775=)
c.5307A>G (p.Leu1769=)
c.4959A>G (p.Leu1653=)
c.4839A>G (p.Leu1613=)
c.*7A>G (n.*7A>G)
n.5081A>G
c.5466A>G (p.Leu1822=)
c.5403A>G (p.Leu1801=)
c.5394A>G (p.Leu1798=)
c.5004A>G (p.Leu1668=)
c.4863A>G (p.Leu1621=)
c.5295A>G (p.Leu1765=)
8g.41668435T>GCA460782061ANK1c.5349A>C (p.Leu1783=)
c.5445A>C (p.Leu1815=)
c.5262A>C (p.Leu1754=)
c.5226A>C (p.Leu1742=)
c.1240A>C
c.798A>C
c.2704A>C
n.2620A>C
c.4740A>C (p.Leu1580=)
c.5490A>C (p.Leu1830=)
c.5391A>C (p.Leu1797=)
c.5325A>C (p.Leu1775=)
c.5307A>C (p.Leu1769=)
c.4959A>C (p.Leu1653=)
c.4839A>C (p.Leu1613=)
c.*7A>C (n.*7A>C)
n.5081A>C
c.5466A>C (p.Leu1822=)
c.5403A>C (p.Leu1801=)
c.5394A>C (p.Leu1798=)
c.5004A>C (p.Leu1668=)
c.4863A>C (p.Leu1621=)
c.5295A>C (p.Leu1765=)
8g.41668435_41668441delinsGCCA2695209200ANK1c.5343_5349delinsGC (p.Gly1782ArgfsTer17)
c.5439_5445delinsGC (p.Gly1814ArgfsTer17)
c.5256_5262delinsGC (p.Gly1753ArgfsTer17)
c.5220_5226delinsGC (p.Gly1741ArgfsTer17)
c.1234_1240delinsGC
c.792_798delinsGC
c.2698_2704delinsGC
n.2614_2620delinsGC
c.4734_4740delinsGC (p.Gly1579ArgfsTer17)
c.5484_5490delinsGC (p.Gly1829ArgfsTer17)
c.5385_5391delinsGC (p.Gly1796ArgfsTer17)
c.5319_5325delinsGC (p.Gly1774ArgfsTer17)
c.5301_5307delinsGC (p.Gly1768ArgfsTer17)
c.4953_4959delinsGC (p.Gly1652ArgfsTer17)
c.4833_4839delinsGC (p.Gly1612ArgfsTer17)
c.*1_*7delinsGC (n.*1_*7delinsGC)
n.5075_5081delinsGC
c.5460_5466delinsGC (p.Gly1821ArgfsTer17)
c.5397_5403delinsGC (p.Gly1800ArgfsTer17)
c.5388_5394delinsGC (p.Gly1797ArgfsTer17)
c.4998_5004delinsGC (p.Gly1667ArgfsTer17)
c.4857_4863delinsGC (p.Gly1620ArgfsTer17)
c.5289_5295delinsGC (p.Gly1764ArgfsTer17)
8g.41668436A>CCA371051555ANK1c.5348T>G (p.Leu1783Arg)
c.5444T>G (p.Leu1815Arg)
c.5261T>G (p.Leu1754Arg)
c.5225T>G (p.Leu1742Arg)
c.1239T>G
c.797T>G
c.2703T>G
n.2619T>G
c.4739T>G (p.Leu1580Arg)
c.5489T>G (p.Leu1830Arg)
c.5390T>G (p.Leu1797Arg)
c.5324T>G (p.Leu1775Arg)
c.5306T>G (p.Leu1769Arg)
c.4958T>G (p.Leu1653Arg)
c.4838T>G (p.Leu1613Arg)
c.*6T>G (n.*6T>G)
n.5080T>G
c.5465T>G (p.Leu1822Arg)
c.5402T>G (p.Leu1801Arg)
c.5393T>G (p.Leu1798Arg)
c.5003T>G (p.Leu1668Arg)
c.4862T>G (p.Leu1621Arg)
c.5294T>G (p.Leu1765Arg)
8g.41668436A>GCA371051556ANK1c.5348T>C (p.Leu1783Pro)
c.5444T>C (p.Leu1815Pro)
c.5261T>C (p.Leu1754Pro)
c.5225T>C (p.Leu1742Pro)
c.1239T>C
c.797T>C
c.2703T>C
n.2619T>C
c.4739T>C (p.Leu1580Pro)
c.5489T>C (p.Leu1830Pro)
c.5390T>C (p.Leu1797Pro)
c.5324T>C (p.Leu1775Pro)
c.5306T>C (p.Leu1769Pro)
c.4958T>C (p.Leu1653Pro)
c.4838T>C (p.Leu1613Pro)
c.*6T>C (n.*6T>C)
n.5080T>C
c.5465T>C (p.Leu1822Pro)
c.5402T>C (p.Leu1801Pro)
c.5393T>C (p.Leu1798Pro)
c.5003T>C (p.Leu1668Pro)
c.4862T>C (p.Leu1621Pro)
c.5294T>C (p.Leu1765Pro)
8g.41668436A>TCA371051559ANK1c.5348T>A (p.Leu1783Gln)
c.5444T>A (p.Leu1815Gln)
c.5261T>A (p.Leu1754Gln)
c.5225T>A (p.Leu1742Gln)
c.1239T>A
c.797T>A
c.2703T>A
n.2619T>A
c.4739T>A (p.Leu1580Gln)
c.5489T>A (p.Leu1830Gln)
c.5390T>A (p.Leu1797Gln)
c.5324T>A (p.Leu1775Gln)
c.5306T>A (p.Leu1769Gln)
c.4958T>A (p.Leu1653Gln)
c.4838T>A (p.Leu1613Gln)
c.*6T>A (n.*6T>A)
n.5080T>A
c.5465T>A (p.Leu1822Gln)
c.5402T>A (p.Leu1801Gln)
c.5393T>A (p.Leu1798Gln)
c.5003T>A (p.Leu1668Gln)
c.4862T>A (p.Leu1621Gln)
c.5294T>A (p.Leu1765Gln)
8g.41668437G>ACA460782062ANK1c.5347C>T (p.Leu1783=)
c.5443C>T (p.Leu1815=)
c.5260C>T (p.Leu1754=)
c.5224C>T (p.Leu1742=)
c.1238C>T
c.796C>T
c.2702C>T
n.2618C>T
c.4738C>T (p.Leu1580=)
c.5488C>T (p.Leu1830=)
c.5389C>T (p.Leu1797=)
c.5323C>T (p.Leu1775=)
c.5305C>T (p.Leu1769=)
c.4957C>T (p.Leu1653=)
c.4837C>T (p.Leu1613=)
c.*5C>T (n.*5C>T)
n.5079C>T
c.5464C>T (p.Leu1822=)
c.5401C>T (p.Leu1801=)
c.5392C>T (p.Leu1798=)
c.5002C>T (p.Leu1668=)
c.4861C>T (p.Leu1621=)
c.5293C>T (p.Leu1765=)
8g.41668437G>CCA371051562ANK1c.5347C>G (p.Leu1783Val)
c.5443C>G (p.Leu1815Val)
c.5260C>G (p.Leu1754Val)
c.5224C>G (p.Leu1742Val)
c.1238C>G
c.796C>G
c.2702C>G
n.2618C>G
c.4738C>G (p.Leu1580Val)
c.5488C>G (p.Leu1830Val)
c.5389C>G (p.Leu1797Val)
c.5323C>G (p.Leu1775Val)
c.5305C>G (p.Leu1769Val)
c.4957C>G (p.Leu1653Val)
c.4837C>G (p.Leu1613Val)
c.*5C>G (n.*5C>G)
n.5079C>G
c.5464C>G (p.Leu1822Val)
c.5401C>G (p.Leu1801Val)
c.5392C>G (p.Leu1798Val)
c.5002C>G (p.Leu1668Val)
c.4861C>G (p.Leu1621Val)
c.5293C>G (p.Leu1765Val)
8g.41668437G>TCA371051564ANK1c.5347C>A (p.Leu1783Ile)
c.5443C>A (p.Leu1815Ile)
c.5260C>A (p.Leu1754Ile)
c.5224C>A (p.Leu1742Ile)
c.1238C>A
c.796C>A
c.2702C>A
n.2618C>A
c.4738C>A (p.Leu1580Ile)
c.5488C>A (p.Leu1830Ile)
c.5389C>A (p.Leu1797Ile)
c.5323C>A (p.Leu1775Ile)
c.5305C>A (p.Leu1769Ile)
c.4957C>A (p.Leu1653Ile)
c.4837C>A (p.Leu1613Ile)
c.*5C>A (n.*5C>A)
n.5079C>A
c.5464C>A (p.Leu1822Ile)
c.5401C>A (p.Leu1801Ile)
c.5392C>A (p.Leu1798Ile)
c.5002C>A (p.Leu1668Ile)
c.4861C>A (p.Leu1621Ile)
c.5293C>A (p.Leu1765Ile)
8g.41668438C>ACA460782063ANK1c.5346G>T (p.Gly1782=)
c.5442G>T (p.Gly1814=)
c.5259G>T (p.Gly1753=)
c.5223G>T (p.Gly1741=)
c.1237G>T
c.795G>T
c.2701G>T
n.2617G>T
c.4737G>T (p.Gly1579=)
c.5487G>T (p.Gly1829=)
c.5388G>T (p.Gly1796=)
c.5322G>T (p.Gly1774=)
c.5304G>T (p.Gly1768=)
c.4956G>T (p.Gly1652=)
c.4836G>T (p.Gly1612=)
c.*4G>T (n.*4G>T)
n.5078G>T
c.5463G>T (p.Gly1821=)
c.5400G>T (p.Gly1800=)
c.5391G>T (p.Gly1797=)
c.5001G>T (p.Gly1667=)
c.4860G>T (p.Gly1620=)
c.5292G>T (p.Gly1764=)
 gnomAD v4
8g.41668438C=CA1779071222ANK1c.5346G= (p.Gly1782=)
c.5442G= (p.Gly1814=)
c.5259G= (p.Gly1753=)
c.5223G= (p.Gly1741=)
c.1237G=
c.795G=
c.2701G=
n.2617G=
c.4737G= (p.Gly1579=)
c.5487G= (p.Gly1829=)
c.5388G= (p.Gly1796=)
c.5322G= (p.Gly1774=)
c.5304G= (p.Gly1768=)
c.4956G= (p.Gly1652=)
c.4836G= (p.Gly1612=)
c.*4G= (n.*4G=)
n.5078G=
c.5463G= (p.Gly1821=)
c.5400G= (p.Gly1800=)
c.5391G= (p.Gly1797=)
c.5001G= (p.Gly1667=)
c.4860G= (p.Gly1620=)
c.5292G= (p.Gly1764=)
8g.41668438C>GCA460782064ANK1c.5346G>C (p.Gly1782=)
c.5442G>C (p.Gly1814=)
c.5259G>C (p.Gly1753=)
c.5223G>C (p.Gly1741=)
c.1237G>C
c.795G>C
c.2701G>C
n.2617G>C
c.4737G>C (p.Gly1579=)
c.5487G>C (p.Gly1829=)
c.5388G>C (p.Gly1796=)
c.5322G>C (p.Gly1774=)
c.5304G>C (p.Gly1768=)
c.4956G>C (p.Gly1652=)
c.4836G>C (p.Gly1612=)
c.*4G>C (n.*4G>C)
n.5078G>C
c.5463G>C (p.Gly1821=)
c.5400G>C (p.Gly1800=)
c.5391G>C (p.Gly1797=)
c.5001G>C (p.Gly1667=)
c.4860G>C (p.Gly1620=)
c.5292G>C (p.Gly1764=)
8g.41668438C>TCA4727348ANK1c.5346G>A (p.Gly1782=)
c.5442G>A (p.Gly1814=)
c.5259G>A (p.Gly1753=)
c.5223G>A (p.Gly1741=)
c.1237G>A
c.795G>A
c.2701G>A
n.2617G>A
c.4737G>A (p.Gly1579=)
c.5487G>A (p.Gly1829=)
c.5388G>A (p.Gly1796=)
c.5322G>A (p.Gly1774=)
c.5304G>A (p.Gly1768=)
c.4956G>A (p.Gly1652=)
c.4836G>A (p.Gly1612=)
c.*4G>A (n.*4G>A)
n.5078G>A
c.5463G>A (p.Gly1821=)
c.5400G>A (p.Gly1800=)
c.5391G>A (p.Gly1797=)
c.5001G>A (p.Gly1667=)
c.4860G>A (p.Gly1620=)
c.5292G>A (p.Gly1764=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41668439C>ACA371051572ANK1c.5345G>T (p.Gly1782Val)
c.5441G>T (p.Gly1814Val)
c.5258G>T (p.Gly1753Val)
c.5222G>T (p.Gly1741Val)
c.1236G>T
c.794G>T
c.2700G>T
n.2616G>T
c.4736G>T (p.Gly1579Val)
c.5486G>T (p.Gly1829Val)
c.5387G>T (p.Gly1796Val)
c.5321G>T (p.Gly1774Val)
c.5303G>T (p.Gly1768Val)
c.4955G>T (p.Gly1652Val)
c.4835G>T (p.Gly1612Val)
c.*3G>T (n.*3G>T)
n.5077G>T
c.5462G>T (p.Gly1821Val)
c.5399G>T (p.Gly1800Val)
c.5390G>T (p.Gly1797Val)
c.5000G>T (p.Gly1667Val)
c.4859G>T (p.Gly1620Val)
c.5291G>T (p.Gly1764Val)
8g.41668439C>GCA371051568ANK1c.5345G>C (p.Gly1782Ala)
c.5441G>C (p.Gly1814Ala)
c.5258G>C (p.Gly1753Ala)
c.5222G>C (p.Gly1741Ala)
c.1236G>C
c.794G>C
c.2700G>C
n.2616G>C
c.4736G>C (p.Gly1579Ala)
c.5486G>C (p.Gly1829Ala)
c.5387G>C (p.Gly1796Ala)
c.5321G>C (p.Gly1774Ala)
c.5303G>C (p.Gly1768Ala)
c.4955G>C (p.Gly1652Ala)
c.4835G>C (p.Gly1612Ala)
c.*3G>C (n.*3G>C)
n.5077G>C
c.5462G>C (p.Gly1821Ala)
c.5399G>C (p.Gly1800Ala)
c.5390G>C (p.Gly1797Ala)
c.5000G>C (p.Gly1667Ala)
c.4859G>C (p.Gly1620Ala)
c.5291G>C (p.Gly1764Ala)
8g.41668439C>TCA371051570ANK1c.5345G>A (p.Gly1782Glu)
c.5441G>A (p.Gly1814Glu)
c.5258G>A (p.Gly1753Glu)
c.5222G>A (p.Gly1741Glu)
c.1236G>A
c.794G>A
c.2700G>A
n.2616G>A
c.4736G>A (p.Gly1579Glu)
c.5486G>A (p.Gly1829Glu)
c.5387G>A (p.Gly1796Glu)
c.5321G>A (p.Gly1774Glu)
c.5303G>A (p.Gly1768Glu)
c.4955G>A (p.Gly1652Glu)
c.4835G>A (p.Gly1612Glu)
c.*3G>A (n.*3G>A)
n.5077G>A
c.5462G>A (p.Gly1821Glu)
c.5399G>A (p.Gly1800Glu)
c.5390G>A (p.Gly1797Glu)
c.5000G>A (p.Gly1667Glu)
c.4859G>A (p.Gly1620Glu)
c.5291G>A (p.Gly1764Glu)
8g.41668440C>ACA371051574ANK1c.5344G>T (p.Gly1782Trp)
c.5440G>T (p.Gly1814Trp)
c.5257G>T (p.Gly1753Trp)
c.5221G>T (p.Gly1741Trp)
c.1235G>T
c.793G>T
c.2699G>T
n.2615G>T
c.4735G>T (p.Gly1579Trp)
c.5485G>T (p.Gly1829Trp)
c.5386G>T (p.Gly1796Trp)
c.5320G>T (p.Gly1774Trp)
c.5302G>T (p.Gly1768Trp)
c.4954G>T (p.Gly1652Trp)
c.4834G>T (p.Gly1612Trp)
c.*2G>T (n.*2G>T)
n.5076G>T
c.5461G>T (p.Gly1821Trp)
c.5398G>T (p.Gly1800Trp)
c.5389G>T (p.Gly1797Trp)
c.4999G>T (p.Gly1667Trp)
c.4858G>T (p.Gly1620Trp)
c.5290G>T (p.Gly1764Trp)
8g.41668440C>GCA371051576ANK1c.5344G>C (p.Gly1782Arg)
c.5440G>C (p.Gly1814Arg)
c.5257G>C (p.Gly1753Arg)
c.5221G>C (p.Gly1741Arg)
c.1235G>C
c.793G>C
c.2699G>C
n.2615G>C
c.4735G>C (p.Gly1579Arg)
c.5485G>C (p.Gly1829Arg)
c.5386G>C (p.Gly1796Arg)
c.5320G>C (p.Gly1774Arg)
c.5302G>C (p.Gly1768Arg)
c.4954G>C (p.Gly1652Arg)
c.4834G>C (p.Gly1612Arg)
c.*2G>C (n.*2G>C)
n.5076G>C
c.5461G>C (p.Gly1821Arg)
c.5398G>C (p.Gly1800Arg)
c.5389G>C (p.Gly1797Arg)
c.4999G>C (p.Gly1667Arg)
c.4858G>C (p.Gly1620Arg)
c.5290G>C (p.Gly1764Arg)
8g.41668440C>TCA371051579ANK1c.5344G>A (p.Gly1782Arg)
c.5440G>A (p.Gly1814Arg)
c.5257G>A (p.Gly1753Arg)
c.5221G>A (p.Gly1741Arg)
c.1235G>A
c.793G>A
c.2699G>A
n.2615G>A
c.4735G>A (p.Gly1579Arg)
c.5485G>A (p.Gly1829Arg)
c.5386G>A (p.Gly1796Arg)
c.5320G>A (p.Gly1774Arg)
c.5302G>A (p.Gly1768Arg)
c.4954G>A (p.Gly1652Arg)
c.4834G>A (p.Gly1612Arg)
c.*2G>A (n.*2G>A)
n.5076G>A
c.5461G>A (p.Gly1821Arg)
c.5398G>A (p.Gly1800Arg)
c.5389G>A (p.Gly1797Arg)
c.4999G>A (p.Gly1667Arg)
c.4858G>A (p.Gly1620Arg)
c.5290G>A (p.Gly1764Arg)
8g.41668441T>ACA371051581ANK1c.5343A>T (p.Glu1781Asp)
c.5439A>T (p.Glu1813Asp)
c.5256A>T (p.Glu1752Asp)
c.5220A>T (p.Glu1740Asp)
c.1234A>T
c.792A>T
c.2698A>T
n.2614A>T
c.4734A>T (p.Glu1578Asp)
c.5484A>T (p.Glu1828Asp)
c.5385A>T (p.Glu1795Asp)
c.5319A>T (p.Glu1773Asp)
c.5301A>T (p.Glu1767Asp)
c.4953A>T (p.Glu1651Asp)
c.4833A>T (p.Glu1611Asp)
c.*1A>T (n.*1A>T)
n.5075A>T
c.5460A>T (p.Glu1820Asp)
c.5397A>T (p.Glu1799Asp)
c.5388A>T (p.Glu1796Asp)
c.4998A>T (p.Glu1666Asp)
c.4857A>T (p.Glu1619Asp)
c.5289A>T (p.Glu1763Asp)
8g.41668441T>CCA460782065ANK1c.5343A>G (p.Glu1781=)
c.5439A>G (p.Glu1813=)
c.5256A>G (p.Glu1752=)
c.5220A>G (p.Glu1740=)
c.1234A>G
c.792A>G
c.2698A>G
n.2614A>G
c.4734A>G (p.Glu1578=)
c.5484A>G (p.Glu1828=)
c.5385A>G (p.Glu1795=)
c.5319A>G (p.Glu1773=)
c.5301A>G (p.Glu1767=)
c.4953A>G (p.Glu1651=)
c.4833A>G (p.Glu1611=)
c.*1A>G (n.*1A>G)
n.5075A>G
c.5460A>G (p.Glu1820=)
c.5397A>G (p.Glu1799=)
c.5388A>G (p.Glu1796=)
c.4998A>G (p.Glu1666=)
c.4857A>G (p.Glu1619=)
c.5289A>G (p.Glu1763=)
8g.41668441T>GCA371051583ANK1c.5343A>C (p.Glu1781Asp)
c.5439A>C (p.Glu1813Asp)
c.5256A>C (p.Glu1752Asp)
c.5220A>C (p.Glu1740Asp)
c.1234A>C
c.792A>C
c.2698A>C
n.2614A>C
c.4734A>C (p.Glu1578Asp)
c.5484A>C (p.Glu1828Asp)
c.5385A>C (p.Glu1795Asp)
c.5319A>C (p.Glu1773Asp)
c.5301A>C (p.Glu1767Asp)
c.4953A>C (p.Glu1651Asp)
c.4833A>C (p.Glu1611Asp)
c.*1A>C (n.*1A>C)
n.5075A>C
c.5460A>C (p.Glu1820Asp)
c.5397A>C (p.Glu1799Asp)
c.5388A>C (p.Glu1796Asp)
c.4998A>C (p.Glu1666Asp)
c.4857A>C (p.Glu1619Asp)
c.5289A>C (p.Glu1763Asp)
8g.41668442T>ACA371051588ANK1c.5342A>T (p.Glu1781Val)
c.5438A>T (p.Glu1813Val)
c.5255A>T (p.Glu1752Val)
c.5219A>T (p.Glu1740Val)
c.1233A>T
c.791A>T
c.2697A>T
n.2613A>T
c.4733A>T (p.Glu1578Val)
c.5483A>T (p.Glu1828Val)
c.5384A>T (p.Glu1795Val)
c.5318A>T (p.Glu1773Val)
c.5300A>T (p.Glu1767Val)
c.4952A>T (p.Glu1651Val)
c.4832A>T (p.Glu1611Val)
c.5043A>T (p.Ter1681Cys)
n.5074A>T
c.5459A>T (p.Glu1820Val)
c.5396A>T (p.Glu1799Val)
c.5387A>T (p.Glu1796Val)
c.4997A>T (p.Glu1666Val)
c.4856A>T (p.Glu1619Val)
c.5288A>T (p.Glu1763Val)
8g.41668442T>CCA371051584ANK1c.5342A>G (p.Glu1781Gly)
c.5438A>G (p.Glu1813Gly)
c.5255A>G (p.Glu1752Gly)
c.5219A>G (p.Glu1740Gly)
c.1233A>G
c.791A>G
c.2697A>G
n.2613A>G
c.4733A>G (p.Glu1578Gly)
c.5483A>G (p.Glu1828Gly)
c.5384A>G (p.Glu1795Gly)
c.5318A>G (p.Glu1773Gly)
c.5300A>G (p.Glu1767Gly)
c.4952A>G (p.Glu1651Gly)
c.4832A>G (p.Glu1611Gly)
c.5043A>G (p.Ter1681Trp)
n.5074A>G
c.5459A>G (p.Glu1820Gly)
c.5396A>G (p.Glu1799Gly)
c.5387A>G (p.Glu1796Gly)
c.4997A>G (p.Glu1666Gly)
c.4856A>G (p.Glu1619Gly)
c.5288A>G (p.Glu1763Gly)
8g.41668442T>GCA371051586ANK1c.5342A>C (p.Glu1781Ala)
c.5438A>C (p.Glu1813Ala)
c.5255A>C (p.Glu1752Ala)
c.5219A>C (p.Glu1740Ala)
c.1233A>C
c.791A>C
c.2697A>C
n.2613A>C
c.4733A>C (p.Glu1578Ala)
c.5483A>C (p.Glu1828Ala)
c.5384A>C (p.Glu1795Ala)
c.5318A>C (p.Glu1773Ala)
c.5300A>C (p.Glu1767Ala)
c.4952A>C (p.Glu1651Ala)
c.4832A>C (p.Glu1611Ala)
c.5043A>C (p.Ter1681Cys)
n.5074A>C
c.5459A>C (p.Glu1820Ala)
c.5396A>C (p.Glu1799Ala)
c.5387A>C (p.Glu1796Ala)
c.4997A>C (p.Glu1666Ala)
c.4856A>C (p.Glu1619Ala)
c.5288A>C (p.Glu1763Ala)
8g.41668443C>ACA371051591ANK1c.5341G>T (p.Glu1781Ter)
c.5437G>T (p.Glu1813Ter)
c.5254G>T (p.Glu1752Ter)
c.5218G>T (p.Glu1740Ter)
c.1232G>T
c.790G>T
c.2696G>T
n.2612G>T
c.4732G>T (p.Glu1578Ter)
c.5482G>T (p.Glu1828Ter)
c.5383G>T (p.Glu1795Ter)
c.5317G>T (p.Glu1773Ter)
c.5299G>T (p.Glu1767Ter)
c.4951G>T (p.Glu1651Ter)
c.4831G>T (p.Glu1611Ter)
c.5042G>T (p.Ter1681Leu)
n.5073G>T
c.5458G>T (p.Glu1820Ter)
c.5395G>T (p.Glu1799Ter)
c.5386G>T (p.Glu1796Ter)
c.4996G>T (p.Glu1666Ter)
c.4855G>T (p.Glu1619Ter)
c.5287G>T (p.Glu1763Ter)
 ClinVar
8g.41668443C>GCA371051593ANK1c.5341G>C (p.Glu1781Gln)
c.5437G>C (p.Glu1813Gln)
c.5254G>C (p.Glu1752Gln)
c.5218G>C (p.Glu1740Gln)
c.1232G>C
c.790G>C
c.2696G>C
n.2612G>C
c.4732G>C (p.Glu1578Gln)
c.5482G>C (p.Glu1828Gln)
c.5383G>C (p.Glu1795Gln)
c.5317G>C (p.Glu1773Gln)
c.5299G>C (p.Glu1767Gln)
c.4951G>C (p.Glu1651Gln)
c.4831G>C (p.Glu1611Gln)
c.5042G>C (p.Ter1681Ser)
n.5073G>C
c.5458G>C (p.Glu1820Gln)
c.5395G>C (p.Glu1799Gln)
c.5386G>C (p.Glu1796Gln)
c.4996G>C (p.Glu1666Gln)
c.4855G>C (p.Glu1619Gln)
c.5287G>C (p.Glu1763Gln)
8g.41668443C>TCA371051595ANK1c.5341G>A (p.Glu1781Lys)
c.5437G>A (p.Glu1813Lys)
c.5254G>A (p.Glu1752Lys)
c.5218G>A (p.Glu1740Lys)
c.1232G>A
c.790G>A
c.2696G>A
n.2612G>A
c.4732G>A (p.Glu1578Lys)
c.5482G>A (p.Glu1828Lys)
c.5383G>A (p.Glu1795Lys)
c.5317G>A (p.Glu1773Lys)
c.5299G>A (p.Glu1767Lys)
c.4951G>A (p.Glu1651Lys)
c.4831G>A (p.Glu1611Lys)
c.5042G>A (p.Ter1681=)
n.5073G>A
c.5458G>A (p.Glu1820Lys)
c.5395G>A (p.Glu1799Lys)
c.5386G>A (p.Glu1796Lys)
c.4996G>A (p.Glu1666Lys)
c.4855G>A (p.Glu1619Lys)
c.5287G>A (p.Glu1763Lys)
8g.41668444A>CCA460782066ANK1c.5340T>G (p.Thr1780=)
c.5436T>G (p.Thr1812=)
c.5253T>G (p.Thr1751=)
c.5217T>G (p.Thr1739=)
c.1231T>G
c.789T>G
c.2695T>G
n.2611T>G
c.4731T>G (p.Thr1577=)
c.5481T>G (p.Thr1827=)
c.5382T>G (p.Thr1794=)
c.5316T>G (p.Thr1772=)
c.5298T>G (p.Thr1766=)
c.4950T>G (p.Thr1650=)
c.4830T>G (p.Thr1610=)
c.5041T>G (p.Ter1681Gly)
n.5072T>G
c.5457T>G (p.Thr1819=)
c.5394T>G (p.Thr1798=)
c.5385T>G (p.Thr1795=)
c.4995T>G (p.Thr1665=)
c.4854T>G (p.Thr1618=)
c.5286T>G (p.Thr1762=)
8g.41668444A>GCA460782067ANK1c.5340T>C (p.Thr1780=)
c.5436T>C (p.Thr1812=)
c.5253T>C (p.Thr1751=)
c.5217T>C (p.Thr1739=)
c.1231T>C
c.789T>C
c.2695T>C
n.2611T>C
c.4731T>C (p.Thr1577=)
c.5481T>C (p.Thr1827=)
c.5382T>C (p.Thr1794=)
c.5316T>C (p.Thr1772=)
c.5298T>C (p.Thr1766=)
c.4950T>C (p.Thr1650=)
c.4830T>C (p.Thr1610=)
c.5041T>C (p.Ter1681Arg)
n.5072T>C
c.5457T>C (p.Thr1819=)
c.5394T>C (p.Thr1798=)
c.5385T>C (p.Thr1795=)
c.4995T>C (p.Thr1665=)
c.4854T>C (p.Thr1618=)
c.5286T>C (p.Thr1762=)
8g.41668444A>TCA460782068ANK1c.5340T>A (p.Thr1780=)
c.5436T>A (p.Thr1812=)
c.5253T>A (p.Thr1751=)
c.5217T>A (p.Thr1739=)
c.1231T>A
c.789T>A
c.2695T>A
n.2611T>A
c.4731T>A (p.Thr1577=)
c.5481T>A (p.Thr1827=)
c.5382T>A (p.Thr1794=)
c.5316T>A (p.Thr1772=)
c.5298T>A (p.Thr1766=)
c.4950T>A (p.Thr1650=)
c.4830T>A (p.Thr1610=)
c.5041T>A (p.Ter1681Arg)
n.5072T>A
c.5457T>A (p.Thr1819=)
c.5394T>A (p.Thr1798=)
c.5385T>A (p.Thr1795=)
c.4995T>A (p.Thr1665=)
c.4854T>A (p.Thr1618=)
c.5286T>A (p.Thr1762=)
8g.41668445G>ACA371051597ANK1c.5339C>T (p.Thr1780Ile)
c.5435C>T (p.Thr1812Ile)
c.5252C>T (p.Thr1751Ile)
c.5216C>T (p.Thr1739Ile)
c.1230C>T
c.788C>T
c.2694C>T
n.2610C>T
c.4730C>T (p.Thr1577Ile)
c.5480C>T (p.Thr1827Ile)
c.5381C>T (p.Thr1794Ile)
c.5315C>T (p.Thr1772Ile)
c.5297C>T (p.Thr1766Ile)
c.4949C>T (p.Thr1650Ile)
c.4829C>T (p.Thr1610Ile)
c.5040C>T (p.Asp1680=)
n.5071C>T
c.5456C>T (p.Thr1819Ile)
c.5393C>T (p.Thr1798Ile)
c.5384C>T (p.Thr1795Ile)
c.4994C>T (p.Thr1665Ile)
c.4853C>T (p.Thr1618Ile)
c.5285C>T (p.Thr1762Ile)
8g.41668445G>CCA371051599ANK1c.5339C>G (p.Thr1780Ser)
c.5435C>G (p.Thr1812Ser)
c.5252C>G (p.Thr1751Ser)
c.5216C>G (p.Thr1739Ser)
c.1230C>G
c.788C>G
c.2694C>G
n.2610C>G
c.4730C>G (p.Thr1577Ser)
c.5480C>G (p.Thr1827Ser)
c.5381C>G (p.Thr1794Ser)
c.5315C>G (p.Thr1772Ser)
c.5297C>G (p.Thr1766Ser)
c.4949C>G (p.Thr1650Ser)
c.4829C>G (p.Thr1610Ser)
c.5040C>G (p.Asp1680Glu)
n.5071C>G
c.5456C>G (p.Thr1819Ser)
c.5393C>G (p.Thr1798Ser)
c.5384C>G (p.Thr1795Ser)
c.4994C>G (p.Thr1665Ser)
c.4853C>G (p.Thr1618Ser)
c.5285C>G (p.Thr1762Ser)
8g.41668445G>TCA371051601ANK1c.5339C>A (p.Thr1780Asn)
c.5435C>A (p.Thr1812Asn)
c.5252C>A (p.Thr1751Asn)
c.5216C>A (p.Thr1739Asn)
c.1230C>A
c.788C>A
c.2694C>A
n.2610C>A
c.4730C>A (p.Thr1577Asn)
c.5480C>A (p.Thr1827Asn)
c.5381C>A (p.Thr1794Asn)
c.5315C>A (p.Thr1772Asn)
c.5297C>A (p.Thr1766Asn)
c.4949C>A (p.Thr1650Asn)
c.4829C>A (p.Thr1610Asn)
c.5040C>A (p.Asp1680Glu)
n.5071C>A
c.5456C>A (p.Thr1819Asn)
c.5393C>A (p.Thr1798Asn)
c.5384C>A (p.Thr1795Asn)
c.4994C>A (p.Thr1665Asn)
c.4853C>A (p.Thr1618Asn)
c.5285C>A (p.Thr1762Asn)
8g.41668446T>ACA371051603ANK1c.5338A>T (p.Thr1780Ser)
c.5434A>T (p.Thr1812Ser)
c.5251A>T (p.Thr1751Ser)
c.5215A>T (p.Thr1739Ser)
c.1229A>T
c.787A>T
c.2693A>T
n.2609A>T
c.4729A>T (p.Thr1577Ser)
c.5479A>T (p.Thr1827Ser)
c.5380A>T (p.Thr1794Ser)
c.5314A>T (p.Thr1772Ser)
c.5296A>T (p.Thr1766Ser)
c.4948A>T (p.Thr1650Ser)
c.4828A>T (p.Thr1610Ser)
c.5039A>T (p.Asp1680Val)
n.5070A>T
c.5455A>T (p.Thr1819Ser)
c.5392A>T (p.Thr1798Ser)
c.5383A>T (p.Thr1795Ser)
c.4993A>T (p.Thr1665Ser)
c.4852A>T (p.Thr1618Ser)
c.5284A>T (p.Thr1762Ser)
8g.41668446T>CCA371051605ANK1c.5338A>G (p.Thr1780Ala)
c.5434A>G (p.Thr1812Ala)
c.5251A>G (p.Thr1751Ala)
c.5215A>G (p.Thr1739Ala)
c.1229A>G
c.787A>G
c.2693A>G
n.2609A>G
c.4729A>G (p.Thr1577Ala)
c.5479A>G (p.Thr1827Ala)
c.5380A>G (p.Thr1794Ala)
c.5314A>G (p.Thr1772Ala)
c.5296A>G (p.Thr1766Ala)
c.4948A>G (p.Thr1650Ala)
c.4828A>G (p.Thr1610Ala)
c.5039A>G (p.Asp1680Gly)
n.5070A>G
c.5455A>G (p.Thr1819Ala)
c.5392A>G (p.Thr1798Ala)
c.5383A>G (p.Thr1795Ala)
c.4993A>G (p.Thr1665Ala)
c.4852A>G (p.Thr1618Ala)
c.5284A>G (p.Thr1762Ala)
 gnomAD v4
8g.41668446T>GCA371051610ANK1c.5338A>C (p.Thr1780Pro)
c.5434A>C (p.Thr1812Pro)
c.5251A>C (p.Thr1751Pro)
c.5215A>C (p.Thr1739Pro)
c.1229A>C
c.787A>C
c.2693A>C
n.2609A>C
c.4729A>C (p.Thr1577Pro)
c.5479A>C (p.Thr1827Pro)
c.5380A>C (p.Thr1794Pro)
c.5314A>C (p.Thr1772Pro)
c.5296A>C (p.Thr1766Pro)
c.4948A>C (p.Thr1650Pro)
c.4828A>C (p.Thr1610Pro)
c.5039A>C (p.Asp1680Ala)
n.5070A>C
c.5455A>C (p.Thr1819Pro)
c.5392A>C (p.Thr1798Pro)
c.5383A>C (p.Thr1795Pro)
c.4993A>C (p.Thr1665Pro)
c.4852A>C (p.Thr1618Pro)
c.5284A>C (p.Thr1762Pro)
8g.41668447C>ACA371051612ANK1c.5337G>T (p.Met1779Ile)
c.5433G>T (p.Met1811Ile)
c.5250G>T (p.Met1750Ile)
c.5214G>T (p.Met1738Ile)
c.1228G>T
c.786G>T
c.2692G>T
n.2608G>T
c.4728G>T (p.Met1576Ile)
c.5478G>T (p.Met1826Ile)
c.5379G>T (p.Met1793Ile)
c.5313G>T (p.Met1771Ile)
c.5295G>T (p.Met1765Ile)
c.4947G>T (p.Met1649Ile)
c.4827G>T (p.Met1609Ile)
c.5038G>T (p.Asp1680Tyr)
n.5069G>T
c.5454G>T (p.Met1818Ile)
c.5391G>T (p.Met1797Ile)
c.5382G>T (p.Met1794Ile)
c.4992G>T (p.Met1664Ile)
c.4851G>T (p.Met1617Ile)
c.5283G>T (p.Met1761Ile)
8g.41668447C>GCA371051613ANK1c.5337G>C (p.Met1779Ile)
c.5433G>C (p.Met1811Ile)
c.5250G>C (p.Met1750Ile)
c.5214G>C (p.Met1738Ile)
c.1228G>C
c.786G>C
c.2692G>C
n.2608G>C
c.4728G>C (p.Met1576Ile)
c.5478G>C (p.Met1826Ile)
c.5379G>C (p.Met1793Ile)
c.5313G>C (p.Met1771Ile)
c.5295G>C (p.Met1765Ile)
c.4947G>C (p.Met1649Ile)
c.4827G>C (p.Met1609Ile)
c.5038G>C (p.Asp1680His)
n.5069G>C
c.5454G>C (p.Met1818Ile)
c.5391G>C (p.Met1797Ile)
c.5382G>C (p.Met1794Ile)
c.4992G>C (p.Met1664Ile)
c.4851G>C (p.Met1617Ile)
c.5283G>C (p.Met1761Ile)
8g.41668447C>TCA371051615ANK1c.5337G>A (p.Met1779Ile)
c.5433G>A (p.Met1811Ile)
c.5250G>A (p.Met1750Ile)
c.5214G>A (p.Met1738Ile)
c.1228G>A
c.786G>A
c.2692G>A
n.2608G>A
c.4728G>A (p.Met1576Ile)
c.5478G>A (p.Met1826Ile)
c.5379G>A (p.Met1793Ile)
c.5313G>A (p.Met1771Ile)
c.5295G>A (p.Met1765Ile)
c.4947G>A (p.Met1649Ile)
c.4827G>A (p.Met1609Ile)
c.5038G>A (p.Asp1680Asn)
n.5069G>A
c.5454G>A (p.Met1818Ile)
c.5391G>A (p.Met1797Ile)
c.5382G>A (p.Met1794Ile)
c.4992G>A (p.Met1664Ile)
c.4851G>A (p.Met1617Ile)
c.5283G>A (p.Met1761Ile)
8g.41668448A=CA1779071224ANK1c.5336T= (p.Met1779=)
c.5432T= (p.Met1811=)
c.5249T= (p.Met1750=)
c.5213T= (p.Met1738=)
c.1227T=
c.785T=
c.2691T=
n.2607T=
c.4727T= (p.Met1576=)
c.5477T= (p.Met1826=)
c.5378T= (p.Met1793=)
c.5312T= (p.Met1771=)
c.5294T= (p.Met1765=)
c.4946T= (p.Met1649=)
c.4826T= (p.Met1609=)
c.5037T= (p.His1679=)
n.5068T=
c.5453T= (p.Met1818=)
c.5390T= (p.Met1797=)
c.5381T= (p.Met1794=)
c.4991T= (p.Met1664=)
c.4850T= (p.Met1617=)
c.5282T= (p.Met1761=)
8g.41668448A>CCA371051618ANK1c.5336T>G (p.Met1779Arg)
c.5432T>G (p.Met1811Arg)
c.5249T>G (p.Met1750Arg)
c.5213T>G (p.Met1738Arg)
c.1227T>G
c.785T>G
c.2691T>G
n.2607T>G
c.4727T>G (p.Met1576Arg)
c.5477T>G (p.Met1826Arg)
c.5378T>G (p.Met1793Arg)
c.5312T>G (p.Met1771Arg)
c.5294T>G (p.Met1765Arg)
c.4946T>G (p.Met1649Arg)
c.4826T>G (p.Met1609Arg)
c.5037T>G (p.His1679Gln)
n.5068T>G
c.5453T>G (p.Met1818Arg)
c.5390T>G (p.Met1797Arg)
c.5381T>G (p.Met1794Arg)
c.4991T>G (p.Met1664Arg)
c.4850T>G (p.Met1617Arg)
c.5282T>G (p.Met1761Arg)
8g.41668448A>GCA371051623ANK1c.5336T>C (p.Met1779Thr)
c.5432T>C (p.Met1811Thr)
c.5249T>C (p.Met1750Thr)
c.5213T>C (p.Met1738Thr)
c.1227T>C
c.785T>C
c.2691T>C
n.2607T>C
c.4727T>C (p.Met1576Thr)
c.5477T>C (p.Met1826Thr)
c.5378T>C (p.Met1793Thr)
c.5312T>C (p.Met1771Thr)
c.5294T>C (p.Met1765Thr)
c.4946T>C (p.Met1649Thr)
c.4826T>C (p.Met1609Thr)
c.5037T>C (p.His1679=)
n.5068T>C
c.5453T>C (p.Met1818Thr)
c.5390T>C (p.Met1797Thr)
c.5381T>C (p.Met1794Thr)
c.4991T>C (p.Met1664Thr)
c.4850T>C (p.Met1617Thr)
c.5282T>C (p.Met1761Thr)
 dbSNP
8g.41668448A>TCA371051620ANK1c.5336T>A (p.Met1779Lys)
c.5432T>A (p.Met1811Lys)
c.5249T>A (p.Met1750Lys)
c.5213T>A (p.Met1738Lys)
c.1227T>A
c.785T>A
c.2691T>A
n.2607T>A
c.4727T>A (p.Met1576Lys)
c.5477T>A (p.Met1826Lys)
c.5378T>A (p.Met1793Lys)
c.5312T>A (p.Met1771Lys)
c.5294T>A (p.Met1765Lys)
c.4946T>A (p.Met1649Lys)
c.4826T>A (p.Met1609Lys)
c.5037T>A (p.His1679Gln)
n.5068T>A
c.5453T>A (p.Met1818Lys)
c.5390T>A (p.Met1797Lys)
c.5381T>A (p.Met1794Lys)
c.4991T>A (p.Met1664Lys)
c.4850T>A (p.Met1617Lys)
c.5282T>A (p.Met1761Lys)
8g.41668449T>ACA371051625ANK1c.5335A>T (p.Met1779Leu)
c.5431A>T (p.Met1811Leu)
c.5248A>T (p.Met1750Leu)
c.5212A>T (p.Met1738Leu)
c.1226A>T
c.784A>T
c.2690A>T
n.2606A>T
c.4726A>T (p.Met1576Leu)
c.5476A>T (p.Met1826Leu)
c.5377A>T (p.Met1793Leu)
c.5311A>T (p.Met1771Leu)
c.5293A>T (p.Met1765Leu)
c.4945A>T (p.Met1649Leu)
c.4825A>T (p.Met1609Leu)
c.5036A>T (p.His1679Leu)
n.5067A>T
c.5452A>T (p.Met1818Leu)
c.5389A>T (p.Met1797Leu)
c.5380A>T (p.Met1794Leu)
c.4990A>T (p.Met1664Leu)
c.4849A>T (p.Met1617Leu)
c.5281A>T (p.Met1761Leu)
8g.41668449T>CCA371051627ANK1c.5335A>G (p.Met1779Val)
c.5431A>G (p.Met1811Val)
c.5248A>G (p.Met1750Val)
c.5212A>G (p.Met1738Val)
c.1226A>G
c.784A>G
c.2690A>G
n.2606A>G
c.4726A>G (p.Met1576Val)
c.5476A>G (p.Met1826Val)
c.5377A>G (p.Met1793Val)
c.5311A>G (p.Met1771Val)
c.5293A>G (p.Met1765Val)
c.4945A>G (p.Met1649Val)
c.4825A>G (p.Met1609Val)
c.5036A>G (p.His1679Arg)
n.5067A>G
c.5452A>G (p.Met1818Val)
c.5389A>G (p.Met1797Val)
c.5380A>G (p.Met1794Val)
c.4990A>G (p.Met1664Val)
c.4849A>G (p.Met1617Val)
c.5281A>G (p.Met1761Val)
 gnomAD v4
8g.41668449T>GCA371051629ANK1c.5335A>C (p.Met1779Leu)
c.5431A>C (p.Met1811Leu)
c.5248A>C (p.Met1750Leu)
c.5212A>C (p.Met1738Leu)
c.1226A>C
c.784A>C
c.2690A>C
n.2606A>C
c.4726A>C (p.Met1576Leu)
c.5476A>C (p.Met1826Leu)
c.5377A>C (p.Met1793Leu)
c.5311A>C (p.Met1771Leu)
c.5293A>C (p.Met1765Leu)
c.4945A>C (p.Met1649Leu)
c.4825A>C (p.Met1609Leu)
c.5036A>C (p.His1679Pro)
n.5067A>C
c.5452A>C (p.Met1818Leu)
c.5389A>C (p.Met1797Leu)
c.5380A>C (p.Met1794Leu)
c.4990A>C (p.Met1664Leu)
c.4849A>C (p.Met1617Leu)
c.5281A>C (p.Met1761Leu)
8g.41668450G>ACA460782069ANK1c.5334C>T (p.Thr1778=)
c.5430C>T (p.Thr1810=)
c.5247C>T (p.Thr1749=)
c.5211C>T (p.Thr1737=)
c.1225C>T
c.783C>T
c.2689C>T
n.2605C>T
c.4725C>T (p.Thr1575=)
c.5475C>T (p.Thr1825=)
c.5376C>T (p.Thr1792=)
c.5310C>T (p.Thr1770=)
c.5292C>T (p.Thr1764=)
c.4944C>T (p.Thr1648=)
c.4824C>T (p.Thr1608=)
c.5035C>T (p.His1679Tyr)
n.5066C>T
c.5451C>T (p.Thr1817=)
c.5388C>T (p.Thr1796=)
c.5379C>T (p.Thr1793=)
c.4989C>T (p.Thr1663=)
c.4848C>T (p.Thr1616=)
c.5280C>T (p.Thr1760=)
 gnomAD v4
8g.41668450G>CCA460782070ANK1c.5334C>G (p.Thr1778=)
c.5430C>G (p.Thr1810=)
c.5247C>G (p.Thr1749=)
c.5211C>G (p.Thr1737=)
c.1225C>G
c.783C>G
c.2689C>G
n.2605C>G
c.4725C>G (p.Thr1575=)
c.5475C>G (p.Thr1825=)
c.5376C>G (p.Thr1792=)
c.5310C>G (p.Thr1770=)
c.5292C>G (p.Thr1764=)
c.4944C>G (p.Thr1648=)
c.4824C>G (p.Thr1608=)
c.5035C>G (p.His1679Asp)
n.5066C>G
c.5451C>G (p.Thr1817=)
c.5388C>G (p.Thr1796=)
c.5379C>G (p.Thr1793=)
c.4989C>G (p.Thr1663=)
c.4848C>G (p.Thr1616=)
c.5280C>G (p.Thr1760=)
8g.41668450G>TCA460782071ANK1c.5334C>A (p.Thr1778=)
c.5430C>A (p.Thr1810=)
c.5247C>A (p.Thr1749=)
c.5211C>A (p.Thr1737=)
c.1225C>A
c.783C>A
c.2689C>A
n.2605C>A
c.4725C>A (p.Thr1575=)
c.5475C>A (p.Thr1825=)
c.5376C>A (p.Thr1792=)
c.5310C>A (p.Thr1770=)
c.5292C>A (p.Thr1764=)
c.4944C>A (p.Thr1648=)
c.4824C>A (p.Thr1608=)
c.5035C>A (p.His1679Asn)
n.5066C>A
c.5451C>A (p.Thr1817=)
c.5388C>A (p.Thr1796=)
c.5379C>A (p.Thr1793=)
c.4989C>A (p.Thr1663=)
c.4848C>A (p.Thr1616=)
c.5280C>A (p.Thr1760=)
8g.41668451G>ACA371051632ANK1c.5333C>T (p.Thr1778Ile)
c.5429C>T (p.Thr1810Ile)
c.5246C>T (p.Thr1749Ile)
c.5210C>T (p.Thr1737Ile)
c.1224C>T
c.782C>T
c.2688C>T
n.2604C>T
c.4724C>T (p.Thr1575Ile)
c.5474C>T (p.Thr1825Ile)
c.5375C>T (p.Thr1792Ile)
c.5309C>T (p.Thr1770Ile)
c.5291C>T (p.Thr1764Ile)
c.4943C>T (p.Thr1648Ile)
c.4823C>T (p.Thr1608Ile)
c.5034C>T (p.Tyr1678=)
n.5065C>T
c.5450C>T (p.Thr1817Ile)
c.5387C>T (p.Thr1796Ile)
c.5378C>T (p.Thr1793Ile)
c.4988C>T (p.Thr1663Ile)
c.4847C>T (p.Thr1616Ile)
c.5279C>T (p.Thr1760Ile)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
8g.41668451G>CCA371051633ANK1c.5333C>G (p.Thr1778Ser)
c.5429C>G (p.Thr1810Ser)
c.5246C>G (p.Thr1749Ser)
c.5210C>G (p.Thr1737Ser)
c.1224C>G
c.782C>G
c.2688C>G
n.2604C>G
c.4724C>G (p.Thr1575Ser)
c.5474C>G (p.Thr1825Ser)
c.5375C>G (p.Thr1792Ser)
c.5309C>G (p.Thr1770Ser)
c.5291C>G (p.Thr1764Ser)
c.4943C>G (p.Thr1648Ser)
c.4823C>G (p.Thr1608Ser)
c.5034C>G (p.Tyr1678Ter)
n.5065C>G
c.5450C>G (p.Thr1817Ser)
c.5387C>G (p.Thr1796Ser)
c.5378C>G (p.Thr1793Ser)
c.4988C>G (p.Thr1663Ser)
c.4847C>G (p.Thr1616Ser)
c.5279C>G (p.Thr1760Ser)
8g.41668451G=CA1779071227ANK1c.5333C= (p.Thr1778=)
c.5429C= (p.Thr1810=)
c.5246C= (p.Thr1749=)
c.5210C= (p.Thr1737=)
c.1224C=
c.782C=
c.2688C=
n.2604C=
c.4724C= (p.Thr1575=)
c.5474C= (p.Thr1825=)
c.5375C= (p.Thr1792=)
c.5309C= (p.Thr1770=)
c.5291C= (p.Thr1764=)
c.4943C= (p.Thr1648=)
c.4823C= (p.Thr1608=)
c.5034C= (p.Tyr1678=)
n.5065C=
c.5450C= (p.Thr1817=)
c.5387C= (p.Thr1796=)
c.5378C= (p.Thr1793=)
c.4988C= (p.Thr1663=)
c.4847C= (p.Thr1616=)
c.5279C= (p.Thr1760=)
8g.41668451G>TCA371051634ANK1c.5333C>A (p.Thr1778Asn)
c.5429C>A (p.Thr1810Asn)
c.5246C>A (p.Thr1749Asn)
c.5210C>A (p.Thr1737Asn)
c.1224C>A
c.782C>A
c.2688C>A
n.2604C>A
c.4724C>A (p.Thr1575Asn)
c.5474C>A (p.Thr1825Asn)
c.5375C>A (p.Thr1792Asn)
c.5309C>A (p.Thr1770Asn)
c.5291C>A (p.Thr1764Asn)
c.4943C>A (p.Thr1648Asn)
c.4823C>A (p.Thr1608Asn)
c.5034C>A (p.Tyr1678Ter)
n.5065C>A
c.5450C>A (p.Thr1817Asn)
c.5387C>A (p.Thr1796Asn)
c.5378C>A (p.Thr1793Asn)
c.4988C>A (p.Thr1663Asn)
c.4847C>A (p.Thr1616Asn)
c.5279C>A (p.Thr1760Asn)
8g.41668452T>ACA371051637ANK1c.5332A>T (p.Thr1778Ser)
c.5428A>T (p.Thr1810Ser)
c.5245A>T (p.Thr1749Ser)
c.5209A>T (p.Thr1737Ser)
c.1223A>T
c.781A>T
c.2687A>T
n.2603A>T
c.4723A>T (p.Thr1575Ser)
c.5473A>T (p.Thr1825Ser)
c.5374A>T (p.Thr1792Ser)
c.5308A>T (p.Thr1770Ser)
c.5290A>T (p.Thr1764Ser)
c.4942A>T (p.Thr1648Ser)
c.4822A>T (p.Thr1608Ser)
c.5033A>T (p.Tyr1678Phe)
n.5064A>T
c.5449A>T (p.Thr1817Ser)
c.5386A>T (p.Thr1796Ser)
c.5377A>T (p.Thr1793Ser)
c.4987A>T (p.Thr1663Ser)
c.4846A>T (p.Thr1616Ser)
c.5278A>T (p.Thr1760Ser)
8g.41668452T>CCA371051639ANK1c.5332A>G (p.Thr1778Ala)
c.5428A>G (p.Thr1810Ala)
c.5245A>G (p.Thr1749Ala)
c.5209A>G (p.Thr1737Ala)
c.1223A>G
c.781A>G
c.2687A>G
n.2603A>G
c.4723A>G (p.Thr1575Ala)
c.5473A>G (p.Thr1825Ala)
c.5374A>G (p.Thr1792Ala)
c.5308A>G (p.Thr1770Ala)
c.5290A>G (p.Thr1764Ala)
c.4942A>G (p.Thr1648Ala)
c.4822A>G (p.Thr1608Ala)
c.5033A>G (p.Tyr1678Cys)
n.5064A>G
c.5449A>G (p.Thr1817Ala)
c.5386A>G (p.Thr1796Ala)
c.5377A>G (p.Thr1793Ala)
c.4987A>G (p.Thr1663Ala)
c.4846A>G (p.Thr1616Ala)
c.5278A>G (p.Thr1760Ala)
 gnomAD v4
8g.41668452T>GCA371051641ANK1c.5332A>C (p.Thr1778Pro)
c.5428A>C (p.Thr1810Pro)
c.5245A>C (p.Thr1749Pro)
c.5209A>C (p.Thr1737Pro)
c.1223A>C
c.781A>C
c.2687A>C
n.2603A>C
c.4723A>C (p.Thr1575Pro)
c.5473A>C (p.Thr1825Pro)
c.5374A>C (p.Thr1792Pro)
c.5308A>C (p.Thr1770Pro)
c.5290A>C (p.Thr1764Pro)
c.4942A>C (p.Thr1648Pro)
c.4822A>C (p.Thr1608Pro)
c.5033A>C (p.Tyr1678Ser)
n.5064A>C
c.5449A>C (p.Thr1817Pro)
c.5386A>C (p.Thr1796Pro)
c.5377A>C (p.Thr1793Pro)
c.4987A>C (p.Thr1663Pro)
c.4846A>C (p.Thr1616Pro)
c.5278A>C (p.Thr1760Pro)
8g.41668453A=CA1779071233ANK1c.5331T= (p.Ser1777=)
c.5427T= (p.Ser1809=)
c.5244T= (p.Ser1748=)
c.5208T= (p.Ser1736=)
c.1222T=
c.780T=
c.2686T=
n.2602T=
c.4722T= (p.Ser1574=)
c.5472T= (p.Ser1824=)
c.5373T= (p.Ser1791=)
c.5307T= (p.Ser1769=)
c.5289T= (p.Ser1763=)
c.4941T= (p.Ser1647=)
c.4821T= (p.Ser1607=)
c.5032T= (p.Tyr1678=)
n.5063T=
c.5448T= (p.Ser1816=)
c.5385T= (p.Ser1795=)
c.5376T= (p.Ser1792=)
c.4986T= (p.Ser1662=)
c.4845T= (p.Ser1615=)
c.5277T= (p.Ser1759=)
8g.41668453A>CCA371051643ANK1c.5331T>G (p.Ser1777Arg)
c.5427T>G (p.Ser1809Arg)
c.5244T>G (p.Ser1748Arg)
c.5208T>G (p.Ser1736Arg)
c.1222T>G
c.780T>G
c.2686T>G
n.2602T>G
c.4722T>G (p.Ser1574Arg)
c.5472T>G (p.Ser1824Arg)
c.5373T>G (p.Ser1791Arg)
c.5307T>G (p.Ser1769Arg)
c.5289T>G (p.Ser1763Arg)
c.4941T>G (p.Ser1647Arg)
c.4821T>G (p.Ser1607Arg)
c.5032T>G (p.Tyr1678Asp)
n.5063T>G
c.5448T>G (p.Ser1816Arg)
c.5385T>G (p.Ser1795Arg)
c.5376T>G (p.Ser1792Arg)
c.4986T>G (p.Ser1662Arg)
c.4845T>G (p.Ser1615Arg)
c.5277T>G (p.Ser1759Arg)
 gnomAD v4
8g.41668453A>GCA460782072ANK1c.5331T>C (p.Ser1777=)
c.5427T>C (p.Ser1809=)
c.5244T>C (p.Ser1748=)
c.5208T>C (p.Ser1736=)
c.1222T>C
c.780T>C
c.2686T>C
n.2602T>C
c.4722T>C (p.Ser1574=)
c.5472T>C (p.Ser1824=)
c.5373T>C (p.Ser1791=)
c.5307T>C (p.Ser1769=)
c.5289T>C (p.Ser1763=)
c.4941T>C (p.Ser1647=)
c.4821T>C (p.Ser1607=)
c.5032T>C (p.Tyr1678His)
n.5063T>C
c.5448T>C (p.Ser1816=)
c.5385T>C (p.Ser1795=)
c.5376T>C (p.Ser1792=)
c.4986T>C (p.Ser1662=)
c.4845T>C (p.Ser1615=)
c.5277T>C (p.Ser1759=)
8g.41668453A>TCA4727349ANK1c.5331T>A (p.Ser1777Arg)
c.5427T>A (p.Ser1809Arg)
c.5244T>A (p.Ser1748Arg)
c.5208T>A (p.Ser1736Arg)
c.1222T>A
c.780T>A
c.2686T>A
n.2602T>A
c.4722T>A (p.Ser1574Arg)
c.5472T>A (p.Ser1824Arg)
c.5373T>A (p.Ser1791Arg)
c.5307T>A (p.Ser1769Arg)
c.5289T>A (p.Ser1763Arg)
c.4941T>A (p.Ser1647Arg)
c.4821T>A (p.Ser1607Arg)
c.5032T>A (p.Tyr1678Asn)
n.5063T>A
c.5448T>A (p.Ser1816Arg)
c.5385T>A (p.Ser1795Arg)
c.5376T>A (p.Ser1792Arg)
c.4986T>A (p.Ser1662Arg)
c.4845T>A (p.Ser1615Arg)
c.5277T>A (p.Ser1759Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41668454C>ACA4727350ANK1c.5330G>T (p.Ser1777Ile)
c.5426G>T (p.Ser1809Ile)
c.5243G>T (p.Ser1748Ile)
c.5207G>T (p.Ser1736Ile)
c.1221G>T
c.779G>T
c.2685G>T
n.2601G>T
c.4721G>T (p.Ser1574Ile)
c.5471G>T (p.Ser1824Ile)
c.5372G>T (p.Ser1791Ile)
c.5306G>T (p.Ser1769Ile)
c.5288G>T (p.Ser1763Ile)
c.4940G>T (p.Ser1647Ile)
c.4820G>T (p.Ser1607Ile)
c.5031G>T (p.Lys1677Asn)
n.5062G>T
c.5447G>T (p.Ser1816Ile)
c.5384G>T (p.Ser1795Ile)
c.5375G>T (p.Ser1792Ile)
c.4985G>T (p.Ser1662Ile)
c.4844G>T (p.Ser1615Ile)
c.5276G>T (p.Ser1759Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41668454C=CA1779071239ANK1c.5330G= (p.Ser1777=)
c.5426G= (p.Ser1809=)
c.5243G= (p.Ser1748=)
c.5207G= (p.Ser1736=)
c.1221G=
c.779G=
c.2685G=
n.2601G=
c.4721G= (p.Ser1574=)
c.5471G= (p.Ser1824=)
c.5372G= (p.Ser1791=)
c.5306G= (p.Ser1769=)
c.5288G= (p.Ser1763=)
c.4940G= (p.Ser1647=)
c.4820G= (p.Ser1607=)
c.5031G= (p.Lys1677=)
n.5062G=
c.5447G= (p.Ser1816=)
c.5384G= (p.Ser1795=)
c.5375G= (p.Ser1792=)
c.4985G= (p.Ser1662=)
c.4844G= (p.Ser1615=)
c.5276G= (p.Ser1759=)
8g.41668454C>GCA371051648ANK1c.5330G>C (p.Ser1777Thr)
c.5426G>C (p.Ser1809Thr)
c.5243G>C (p.Ser1748Thr)
c.5207G>C (p.Ser1736Thr)
c.1221G>C
c.779G>C
c.2685G>C
n.2601G>C
c.4721G>C (p.Ser1574Thr)
c.5471G>C (p.Ser1824Thr)
c.5372G>C (p.Ser1791Thr)
c.5306G>C (p.Ser1769Thr)
c.5288G>C (p.Ser1763Thr)
c.4940G>C (p.Ser1647Thr)
c.4820G>C (p.Ser1607Thr)
c.5031G>C (p.Lys1677Asn)
n.5062G>C
c.5447G>C (p.Ser1816Thr)
c.5384G>C (p.Ser1795Thr)
c.5375G>C (p.Ser1792Thr)
c.4985G>C (p.Ser1662Thr)
c.4844G>C (p.Ser1615Thr)
c.5276G>C (p.Ser1759Thr)
8g.41668454C>TCA371051646ANK1c.5330G>A (p.Ser1777Asn)
c.5426G>A (p.Ser1809Asn)
c.5243G>A (p.Ser1748Asn)
c.5207G>A (p.Ser1736Asn)
c.1221G>A
c.779G>A
c.2685G>A
n.2601G>A
c.4721G>A (p.Ser1574Asn)
c.5471G>A (p.Ser1824Asn)
c.5372G>A (p.Ser1791Asn)
c.5306G>A (p.Ser1769Asn)
c.5288G>A (p.Ser1763Asn)
c.4940G>A (p.Ser1647Asn)
c.4820G>A (p.Ser1607Asn)
c.5031G>A (p.Lys1677=)
n.5062G>A
c.5447G>A (p.Ser1816Asn)
c.5384G>A (p.Ser1795Asn)
c.5375G>A (p.Ser1792Asn)
c.4985G>A (p.Ser1662Asn)
c.4844G>A (p.Ser1615Asn)
c.5276G>A (p.Ser1759Asn)
 dbSNP
8g.41668455T>ACA371051651ANK1c.5329A>T (p.Ser1777Cys)
c.5425A>T (p.Ser1809Cys)
c.5242A>T (p.Ser1748Cys)
c.5206A>T (p.Ser1736Cys)
c.1220A>T
c.778A>T
c.2684A>T
n.2600A>T
c.4720A>T (p.Ser1574Cys)
c.5470A>T (p.Ser1824Cys)
c.5371A>T (p.Ser1791Cys)
c.5305A>T (p.Ser1769Cys)
c.5287A>T (p.Ser1763Cys)
c.4939A>T (p.Ser1647Cys)
c.4819A>T (p.Ser1607Cys)
c.5030A>T (p.Lys1677Met)
n.5061A>T
c.5446A>T (p.Ser1816Cys)
c.5383A>T (p.Ser1795Cys)
c.5374A>T (p.Ser1792Cys)
c.4984A>T (p.Ser1662Cys)
c.4843A>T (p.Ser1615Cys)
c.5275A>T (p.Ser1759Cys)
8g.41668455T>CCA371051653ANK1c.5329A>G (p.Ser1777Gly)
c.5425A>G (p.Ser1809Gly)
c.5242A>G (p.Ser1748Gly)
c.5206A>G (p.Ser1736Gly)
c.1220A>G
c.778A>G
c.2684A>G
n.2600A>G
c.4720A>G (p.Ser1574Gly)
c.5470A>G (p.Ser1824Gly)
c.5371A>G (p.Ser1791Gly)
c.5305A>G (p.Ser1769Gly)
c.5287A>G (p.Ser1763Gly)
c.4939A>G (p.Ser1647Gly)
c.4819A>G (p.Ser1607Gly)
c.5030A>G (p.Lys1677Arg)
n.5061A>G
c.5446A>G (p.Ser1816Gly)
c.5383A>G (p.Ser1795Gly)
c.5374A>G (p.Ser1792Gly)
c.4984A>G (p.Ser1662Gly)
c.4843A>G (p.Ser1615Gly)
c.5275A>G (p.Ser1759Gly)
 dbSNP gnomAD v2 gnomAD v4
8g.41668455T>GCA371051655ANK1c.5329A>C (p.Ser1777Arg)
c.5425A>C (p.Ser1809Arg)
c.5242A>C (p.Ser1748Arg)
c.5206A>C (p.Ser1736Arg)
c.1220A>C
c.778A>C
c.2684A>C
n.2600A>C
c.4720A>C (p.Ser1574Arg)
c.5470A>C (p.Ser1824Arg)
c.5371A>C (p.Ser1791Arg)
c.5305A>C (p.Ser1769Arg)
c.5287A>C (p.Ser1763Arg)
c.4939A>C (p.Ser1647Arg)
c.4819A>C (p.Ser1607Arg)
c.5030A>C (p.Lys1677Thr)
n.5061A>C
c.5446A>C (p.Ser1816Arg)
c.5383A>C (p.Ser1795Arg)
c.5374A>C (p.Ser1792Arg)
c.4984A>C (p.Ser1662Arg)
c.4843A>C (p.Ser1615Arg)
c.5275A>C (p.Ser1759Arg)
 gnomAD v4
8g.41668455T=CA1779071242ANK1c.5329A= (p.Ser1777=)
c.5425A= (p.Ser1809=)
c.5242A= (p.Ser1748=)
c.5206A= (p.Ser1736=)
c.1220A=
c.778A=
c.2684A=
n.2600A=
c.4720A= (p.Ser1574=)
c.5470A= (p.Ser1824=)
c.5371A= (p.Ser1791=)
c.5305A= (p.Ser1769=)
c.5287A= (p.Ser1763=)
c.4939A= (p.Ser1647=)
c.4819A= (p.Ser1607=)
c.5030A= (p.Lys1677=)
n.5061A=
c.5446A= (p.Ser1816=)
c.5383A= (p.Ser1795=)
c.5374A= (p.Ser1792=)
c.4984A= (p.Ser1662=)
c.4843A= (p.Ser1615=)
c.5275A= (p.Ser1759=)
8g.41668456T>ACA460782073ANK1c.5328A>T (p.Thr1776=)
c.5424A>T (p.Thr1808=)
c.5241A>T (p.Thr1747=)
c.5205A>T (p.Thr1735=)
c.1219A>T
c.777A>T
c.2683A>T
n.2599A>T
c.4719A>T (p.Thr1573=)
c.5469A>T (p.Thr1823=)
c.5370A>T (p.Thr1790=)
c.5304A>T (p.Thr1768=)
c.5286A>T (p.Thr1762=)
c.4938A>T (p.Thr1646=)
c.4818A>T (p.Thr1606=)
c.5029A>T (p.Lys1677Ter)
n.5060A>T
c.5445A>T (p.Thr1815=)
c.5382A>T (p.Thr1794=)
c.5373A>T (p.Thr1791=)
c.4983A>T (p.Thr1661=)
c.4842A>T (p.Thr1614=)
c.5274A>T (p.Thr1758=)
8g.41668456T>CCA460782074ANK1c.5328A>G (p.Thr1776=)
c.5424A>G (p.Thr1808=)
c.5241A>G (p.Thr1747=)
c.5205A>G (p.Thr1735=)
c.1219A>G
c.777A>G
c.2683A>G
n.2599A>G
c.4719A>G (p.Thr1573=)
c.5469A>G (p.Thr1823=)
c.5370A>G (p.Thr1790=)
c.5304A>G (p.Thr1768=)
c.5286A>G (p.Thr1762=)
c.4938A>G (p.Thr1646=)
c.4818A>G (p.Thr1606=)
c.5029A>G (p.Lys1677Glu)
n.5060A>G
c.5445A>G (p.Thr1815=)
c.5382A>G (p.Thr1794=)
c.5373A>G (p.Thr1791=)
c.4983A>G (p.Thr1661=)
c.4842A>G (p.Thr1614=)
c.5274A>G (p.Thr1758=)
 dbSNP
8g.41668456T>GCA460782075ANK1c.5328A>C (p.Thr1776=)
c.5424A>C (p.Thr1808=)
c.5241A>C (p.Thr1747=)
c.5205A>C (p.Thr1735=)
c.1219A>C
c.777A>C
c.2683A>C
n.2599A>C
c.4719A>C (p.Thr1573=)
c.5469A>C (p.Thr1823=)
c.5370A>C (p.Thr1790=)
c.5304A>C (p.Thr1768=)
c.5286A>C (p.Thr1762=)
c.4938A>C (p.Thr1646=)
c.4818A>C (p.Thr1606=)
c.5029A>C (p.Lys1677Gln)
n.5060A>C
c.5445A>C (p.Thr1815=)
c.5382A>C (p.Thr1794=)
c.5373A>C (p.Thr1791=)
c.4983A>C (p.Thr1661=)
c.4842A>C (p.Thr1614=)
c.5274A>C (p.Thr1758=)
8g.41668456T=CA1779071245ANK1c.5328A= (p.Thr1776=)
c.5424A= (p.Thr1808=)
c.5241A= (p.Thr1747=)
c.5205A= (p.Thr1735=)
c.1219A=
c.777A=
c.2683A=
n.2599A=
c.4719A= (p.Thr1573=)
c.5469A= (p.Thr1823=)
c.5370A= (p.Thr1790=)
c.5304A= (p.Thr1768=)
c.5286A= (p.Thr1762=)
c.4938A= (p.Thr1646=)
c.4818A= (p.Thr1606=)
c.5029A= (p.Lys1677=)
n.5060A=
c.5445A= (p.Thr1815=)
c.5382A= (p.Thr1794=)
c.5373A= (p.Thr1791=)
c.4983A= (p.Thr1661=)
c.4842A= (p.Thr1614=)
c.5274A= (p.Thr1758=)
8g.41668457G>ACA4727351ANK1c.5327C>T (p.Thr1776Ile)
c.5423C>T (p.Thr1808Ile)
c.5240C>T (p.Thr1747Ile)
c.5204C>T (p.Thr1735Ile)
c.1218C>T
c.776C>T
c.2682C>T
n.2598C>T
c.4718C>T (p.Thr1573Ile)
c.5468C>T (p.Thr1823Ile)
c.5369C>T (p.Thr1790Ile)
c.5303C>T (p.Thr1768Ile)
c.5285C>T (p.Thr1762Ile)
c.4937C>T (p.Thr1646Ile)
c.4817C>T (p.Thr1606Ile)
c.5028C>T (p.Asn1676=)
n.5059C>T
c.5444C>T (p.Thr1815Ile)
c.5381C>T (p.Thr1794Ile)
c.5372C>T (p.Thr1791Ile)
c.4982C>T (p.Thr1661Ile)
c.4841C>T (p.Thr1614Ile)
c.5273C>T (p.Thr1758Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41668457G>CCA371051659ANK1c.5327C>G (p.Thr1776Arg)
c.5423C>G (p.Thr1808Arg)
c.5240C>G (p.Thr1747Arg)
c.5204C>G (p.Thr1735Arg)
c.1218C>G
c.776C>G
c.2682C>G
n.2598C>G
c.4718C>G (p.Thr1573Arg)
c.5468C>G (p.Thr1823Arg)
c.5369C>G (p.Thr1790Arg)
c.5303C>G (p.Thr1768Arg)
c.5285C>G (p.Thr1762Arg)
c.4937C>G (p.Thr1646Arg)
c.4817C>G (p.Thr1606Arg)
c.5028C>G (p.Asn1676Lys)
n.5059C>G
c.5444C>G (p.Thr1815Arg)
c.5381C>G (p.Thr1794Arg)
c.5372C>G (p.Thr1791Arg)
c.4982C>G (p.Thr1661Arg)
c.4841C>G (p.Thr1614Arg)
c.5273C>G (p.Thr1758Arg)
8g.41668457G=CA1779071246ANK1c.5327C= (p.Thr1776=)
c.5423C= (p.Thr1808=)
c.5240C= (p.Thr1747=)
c.5204C= (p.Thr1735=)
c.1218C=
c.776C=
c.2682C=
n.2598C=
c.4718C= (p.Thr1573=)
c.5468C= (p.Thr1823=)
c.5369C= (p.Thr1790=)
c.5303C= (p.Thr1768=)
c.5285C= (p.Thr1762=)
c.4937C= (p.Thr1646=)
c.4817C= (p.Thr1606=)
c.5028C= (p.Asn1676=)
n.5059C=
c.5444C= (p.Thr1815=)
c.5381C= (p.Thr1794=)
c.5372C= (p.Thr1791=)
c.4982C= (p.Thr1661=)
c.4841C= (p.Thr1614=)
c.5273C= (p.Thr1758=)
8g.41668457G>TCA371051661ANK1c.5327C>A (p.Thr1776Lys)
c.5423C>A (p.Thr1808Lys)
c.5240C>A (p.Thr1747Lys)
c.5204C>A (p.Thr1735Lys)
c.1218C>A
c.776C>A
c.2682C>A
n.2598C>A
c.4718C>A (p.Thr1573Lys)
c.5468C>A (p.Thr1823Lys)
c.5369C>A (p.Thr1790Lys)
c.5303C>A (p.Thr1768Lys)
c.5285C>A (p.Thr1762Lys)
c.4937C>A (p.Thr1646Lys)
c.4817C>A (p.Thr1606Lys)
c.5028C>A (p.Asn1676Lys)
n.5059C>A
c.5444C>A (p.Thr1815Lys)
c.5381C>A (p.Thr1794Lys)
c.5372C>A (p.Thr1791Lys)
c.4982C>A (p.Thr1661Lys)
c.4841C>A (p.Thr1614Lys)
c.5273C>A (p.Thr1758Lys)
8g.41668458T>ACA371051664ANK1c.5326A>T (p.Thr1776Ser)
c.5422A>T (p.Thr1808Ser)
c.5239A>T (p.Thr1747Ser)
c.5203A>T (p.Thr1735Ser)
c.1217A>T
c.775A>T
c.2681A>T
n.2597A>T
c.4717A>T (p.Thr1573Ser)
c.5467A>T (p.Thr1823Ser)
c.5368A>T (p.Thr1790Ser)
c.5302A>T (p.Thr1768Ser)
c.5284A>T (p.Thr1762Ser)
c.4936A>T (p.Thr1646Ser)
c.4816A>T (p.Thr1606Ser)
c.5027A>T (p.Asn1676Ile)
n.5058A>T
c.5443A>T (p.Thr1815Ser)
c.5380A>T (p.Thr1794Ser)
c.5371A>T (p.Thr1791Ser)
c.4981A>T (p.Thr1661Ser)
c.4840A>T (p.Thr1614Ser)
c.5272A>T (p.Thr1758Ser)
8g.41668458T>CCA371051665ANK1c.5326A>G (p.Thr1776Ala)
c.5422A>G (p.Thr1808Ala)
c.5239A>G (p.Thr1747Ala)
c.5203A>G (p.Thr1735Ala)
c.1217A>G
c.775A>G
c.2681A>G
n.2597A>G
c.4717A>G (p.Thr1573Ala)
c.5467A>G (p.Thr1823Ala)
c.5368A>G (p.Thr1790Ala)
c.5302A>G (p.Thr1768Ala)
c.5284A>G (p.Thr1762Ala)
c.4936A>G (p.Thr1646Ala)
c.4816A>G (p.Thr1606Ala)
c.5027A>G (p.Asn1676Ser)
n.5058A>G
c.5443A>G (p.Thr1815Ala)
c.5380A>G (p.Thr1794Ala)
c.5371A>G (p.Thr1791Ala)
c.4981A>G (p.Thr1661Ala)
c.4840A>G (p.Thr1614Ala)
c.5272A>G (p.Thr1758Ala)
 gnomAD v4
8g.41668458T>GCA371051667ANK1c.5326A>C (p.Thr1776Pro)
c.5422A>C (p.Thr1808Pro)
c.5239A>C (p.Thr1747Pro)
c.5203A>C (p.Thr1735Pro)
c.1217A>C
c.775A>C
c.2681A>C
n.2597A>C
c.4717A>C (p.Thr1573Pro)
c.5467A>C (p.Thr1823Pro)
c.5368A>C (p.Thr1790Pro)
c.5302A>C (p.Thr1768Pro)
c.5284A>C (p.Thr1762Pro)
c.4936A>C (p.Thr1646Pro)
c.4816A>C (p.Thr1606Pro)
c.5027A>C (p.Asn1676Thr)
n.5058A>C
c.5443A>C (p.Thr1815Pro)
c.5380A>C (p.Thr1794Pro)
c.5371A>C (p.Thr1791Pro)
c.4981A>C (p.Thr1661Pro)
c.4840A>C (p.Thr1614Pro)
c.5272A>C (p.Thr1758Pro)
8g.41668459T>ACA460782078ANK1c.5325A>T (p.Gly1775=)
c.5421A>T (p.Gly1807=)
c.5238A>T (p.Gly1746=)
c.5202A>T (p.Gly1734=)
c.1216A>T
c.774A>T
c.2680A>T
n.2596A>T
c.4716A>T (p.Gly1572=)
c.5466A>T (p.Gly1822=)
c.5367A>T (p.Gly1789=)
c.5301A>T (p.Gly1767=)
c.5283A>T (p.Gly1761=)
c.4935A>T (p.Gly1645=)
c.4815A>T (p.Gly1605=)
c.5026A>T (p.Asn1676Tyr)
n.5057A>T
c.5442A>T (p.Gly1814=)
c.5379A>T (p.Gly1793=)
c.5370A>T (p.Gly1790=)
c.4980A>T (p.Gly1660=)
c.4839A>T (p.Gly1613=)
c.5271A>T (p.Gly1757=)
8g.41668459T>CCA460782076ANK1c.5325A>G (p.Gly1775=)
c.5421A>G (p.Gly1807=)
c.5238A>G (p.Gly1746=)
c.5202A>G (p.Gly1734=)
c.1216A>G
c.774A>G
c.2680A>G
n.2596A>G
c.4716A>G (p.Gly1572=)
c.5466A>G (p.Gly1822=)
c.5367A>G (p.Gly1789=)
c.5301A>G (p.Gly1767=)
c.5283A>G (p.Gly1761=)
c.4935A>G (p.Gly1645=)
c.4815A>G (p.Gly1605=)
c.5026A>G (p.Asn1676Asp)
n.5057A>G
c.5442A>G (p.Gly1814=)
c.5379A>G (p.Gly1793=)
c.5370A>G (p.Gly1790=)
c.4980A>G (p.Gly1660=)
c.4839A>G (p.Gly1613=)
c.5271A>G (p.Gly1757=)
8g.41668459T>GCA460782077ANK1c.5325A>C (p.Gly1775=)
c.5421A>C (p.Gly1807=)
c.5238A>C (p.Gly1746=)
c.5202A>C (p.Gly1734=)
c.1216A>C
c.774A>C
c.2680A>C
n.2596A>C
c.4716A>C (p.Gly1572=)
c.5466A>C (p.Gly1822=)
c.5367A>C (p.Gly1789=)
c.5301A>C (p.Gly1767=)
c.5283A>C (p.Gly1761=)
c.4935A>C (p.Gly1645=)
c.4815A>C (p.Gly1605=)
c.5026A>C (p.Asn1676His)
n.5057A>C
c.5442A>C (p.Gly1814=)
c.5379A>C (p.Gly1793=)
c.5370A>C (p.Gly1790=)
c.4980A>C (p.Gly1660=)
c.4839A>C (p.Gly1613=)
c.5271A>C (p.Gly1757=)
8g.41668460C>ACA371051670ANK1c.5324G>T (p.Gly1775Val)
c.5420G>T (p.Gly1807Val)
c.5237G>T (p.Gly1746Val)
c.5201G>T (p.Gly1734Val)
c.1215G>T
c.773G>T
c.2679G>T
n.2595G>T
c.4715G>T (p.Gly1572Val)
c.5465G>T (p.Gly1822Val)
c.5366G>T (p.Gly1789Val)
c.5300G>T (p.Gly1767Val)
c.5282G>T (p.Gly1761Val)
c.4934G>T (p.Gly1645Val)
c.4814G>T (p.Gly1605Val)
c.5025G>T (p.Gly1675=)
n.5056G>T
c.5441G>T (p.Gly1814Val)
c.5378G>T (p.Gly1793Val)
c.5369G>T (p.Gly1790Val)
c.4979G>T (p.Gly1660Val)
c.4838G>T (p.Gly1613Val)
c.5270G>T (p.Gly1757Val)
8g.41668460C>GCA371051671ANK1c.5324G>C (p.Gly1775Ala)
c.5420G>C (p.Gly1807Ala)
c.5237G>C (p.Gly1746Ala)
c.5201G>C (p.Gly1734Ala)
c.1215G>C
c.773G>C
c.2679G>C
n.2595G>C
c.4715G>C (p.Gly1572Ala)
c.5465G>C (p.Gly1822Ala)
c.5366G>C (p.Gly1789Ala)
c.5300G>C (p.Gly1767Ala)
c.5282G>C (p.Gly1761Ala)
c.4934G>C (p.Gly1645Ala)
c.4814G>C (p.Gly1605Ala)
c.5025G>C (p.Gly1675=)
n.5056G>C
c.5441G>C (p.Gly1814Ala)
c.5378G>C (p.Gly1793Ala)
c.5369G>C (p.Gly1790Ala)
c.4979G>C (p.Gly1660Ala)
c.4838G>C (p.Gly1613Ala)
c.5270G>C (p.Gly1757Ala)
8g.41668460C>TCA371051673ANK1c.5324G>A (p.Gly1775Glu)
c.5420G>A (p.Gly1807Glu)
c.5237G>A (p.Gly1746Glu)
c.5201G>A (p.Gly1734Glu)
c.1215G>A
c.773G>A
c.2679G>A
n.2595G>A
c.4715G>A (p.Gly1572Glu)
c.5465G>A (p.Gly1822Glu)
c.5366G>A (p.Gly1789Glu)
c.5300G>A (p.Gly1767Glu)
c.5282G>A (p.Gly1761Glu)
c.4934G>A (p.Gly1645Glu)
c.4814G>A (p.Gly1605Glu)
c.5025G>A (p.Gly1675=)
n.5056G>A
c.5441G>A (p.Gly1814Glu)
c.5378G>A (p.Gly1793Glu)
c.5369G>A (p.Gly1790Glu)
c.4979G>A (p.Gly1660Glu)
c.4838G>A (p.Gly1613Glu)
c.5270G>A (p.Gly1757Glu)
8g.41668460_41668461insTGACCA2695209201ANK1c.5324_5325insTCAG (p.Thr1776GlnfsTer7)
c.5420_5421insTCAG (p.Thr1808GlnfsTer7)
c.5237_5238insTCAG (p.Thr1747GlnfsTer7)
c.5201_5202insTCAG (p.Thr1735GlnfsTer7)
c.1215_1216insTCAG
c.773_774insTCAG
c.2679_2680insTCAG
n.2595_2596insTCAG
c.4715_4716insTCAG (p.Thr1573GlnfsTer7)
c.5465_5466insTCAG (p.Thr1823GlnfsTer7)
c.5366_5367insTCAG (p.Thr1790GlnfsTer7)
c.5300_5301insTCAG (p.Thr1768GlnfsTer7)
c.5282_5283insTCAG (p.Thr1762GlnfsTer7)
c.4934_4935insTCAG (p.Thr1646GlnfsTer7)
c.4814_4815insTCAG (p.Thr1606GlnfsTer7)
c.5025_5026insTCAG (p.Asn1676SerfsTer6)
n.5056_5057insTCAG
c.5441_5442insTCAG (p.Thr1815GlnfsTer7)
c.5378_5379insTCAG (p.Thr1794GlnfsTer7)
c.5369_5370insTCAG (p.Thr1791GlnfsTer7)
c.4979_4980insTCAG (p.Thr1661GlnfsTer7)
c.4838_4839insTCAG (p.Thr1614GlnfsTer7)
c.5270_5271insTCAG (p.Thr1758GlnfsTer7)
8g.41668461C>ACA371051679ANK1c.5323G>T (p.Gly1775Ter)
c.5419G>T (p.Gly1807Ter)
c.5236G>T (p.Gly1746Ter)
c.5200G>T (p.Gly1734Ter)
c.1214G>T
c.772G>T
c.2678G>T
n.2594G>T
c.4714G>T (p.Gly1572Ter)
c.5464G>T (p.Gly1822Ter)
c.5365G>T (p.Gly1789Ter)
c.5299G>T (p.Gly1767Ter)
c.5281G>T (p.Gly1761Ter)
c.4933G>T (p.Gly1645Ter)
c.4813G>T (p.Gly1605Ter)
c.5024G>T (p.Gly1675Val)
n.5055G>T
c.5440G>T (p.Gly1814Ter)
c.5377G>T (p.Gly1793Ter)
c.5368G>T (p.Gly1790Ter)
c.4978G>T (p.Gly1660Ter)
c.4837G>T (p.Gly1613Ter)
c.5269G>T (p.Gly1757Ter)
8g.41668461C=CA1779071250ANK1c.5323G= (p.Gly1775=)
c.5419G= (p.Gly1807=)
c.5236G= (p.Gly1746=)
c.5200G= (p.Gly1734=)
c.1214G=
c.772G=
c.2678G=
n.2594G=
c.4714G= (p.Gly1572=)
c.5464G= (p.Gly1822=)
c.5365G= (p.Gly1789=)
c.5299G= (p.Gly1767=)
c.5281G= (p.Gly1761=)
c.4933G= (p.Gly1645=)
c.4813G= (p.Gly1605=)
c.5024G= (p.Gly1675=)
n.5055G=
c.5440G= (p.Gly1814=)
c.5377G= (p.Gly1793=)
c.5368G= (p.Gly1790=)
c.4978G= (p.Gly1660=)
c.4837G= (p.Gly1613=)
c.5269G= (p.Gly1757=)
8g.41668461C>GCA371051677ANK1c.5323G>C (p.Gly1775Arg)
c.5419G>C (p.Gly1807Arg)
c.5236G>C (p.Gly1746Arg)
c.5200G>C (p.Gly1734Arg)
c.1214G>C
c.772G>C
c.2678G>C
n.2594G>C
c.4714G>C (p.Gly1572Arg)
c.5464G>C (p.Gly1822Arg)
c.5365G>C (p.Gly1789Arg)
c.5299G>C (p.Gly1767Arg)
c.5281G>C (p.Gly1761Arg)
c.4933G>C (p.Gly1645Arg)
c.4813G>C (p.Gly1605Arg)
c.5024G>C (p.Gly1675Ala)
n.5055G>C
c.5440G>C (p.Gly1814Arg)
c.5377G>C (p.Gly1793Arg)
c.5368G>C (p.Gly1790Arg)
c.4978G>C (p.Gly1660Arg)
c.4837G>C (p.Gly1613Arg)
c.5269G>C (p.Gly1757Arg)
8g.41668461C>TCA371051676ANK1c.5323G>A (p.Gly1775Arg)
c.5419G>A (p.Gly1807Arg)
c.5236G>A (p.Gly1746Arg)
c.5200G>A (p.Gly1734Arg)
c.1214G>A
c.772G>A
c.2678G>A
n.2594G>A
c.4714G>A (p.Gly1572Arg)
c.5464G>A (p.Gly1822Arg)
c.5365G>A (p.Gly1789Arg)
c.5299G>A (p.Gly1767Arg)
c.5281G>A (p.Gly1761Arg)
c.4933G>A (p.Gly1645Arg)
c.4813G>A (p.Gly1605Arg)
c.5024G>A (p.Gly1675Glu)
n.5055G>A
c.5440G>A (p.Gly1814Arg)
c.5377G>A (p.Gly1793Arg)
c.5368G>A (p.Gly1790Arg)
c.4978G>A (p.Gly1660Arg)
c.4837G>A (p.Gly1613Arg)
c.5269G>A (p.Gly1757Arg)
 dbSNP gnomAD v4
8g.41668462C>ACA371051683ANK1c.5322G>T (p.Gln1774His)
c.5418G>T (p.Gln1806His)
c.5235G>T (p.Gln1745His)
c.5199G>T (p.Gln1733His)
c.1213G>T
c.771G>T
c.2677G>T
n.2593G>T
c.4713G>T (p.Gln1571His)
c.5463G>T (p.Gln1821His)
c.5364G>T (p.Gln1788His)
c.5298G>T (p.Gln1766His)
c.5280G>T (p.Gln1760His)
c.4932G>T (p.Gln1644His)
c.4812G>T (p.Gln1604His)
c.5023G>T (p.Gly1675Trp)
n.5054G>T
c.5439G>T (p.Gln1813His)
c.5376G>T (p.Gln1792His)
c.5367G>T (p.Gln1789His)
c.4977G>T (p.Gln1659His)
c.4836G>T (p.Gln1612His)
c.5268G>T (p.Gln1756His)
8g.41668462C>GCA371051682ANK1c.5322G>C (p.Gln1774His)
c.5418G>C (p.Gln1806His)
c.5235G>C (p.Gln1745His)
c.5199G>C (p.Gln1733His)
c.1213G>C
c.771G>C
c.2677G>C
n.2593G>C
c.4713G>C (p.Gln1571His)
c.5463G>C (p.Gln1821His)
c.5364G>C (p.Gln1788His)
c.5298G>C (p.Gln1766His)
c.5280G>C (p.Gln1760His)
c.4932G>C (p.Gln1644His)
c.4812G>C (p.Gln1604His)
c.5023G>C (p.Gly1675Arg)
n.5054G>C
c.5439G>C (p.Gln1813His)
c.5376G>C (p.Gln1792His)
c.5367G>C (p.Gln1789His)
c.4977G>C (p.Gln1659His)
c.4836G>C (p.Gln1612His)
c.5268G>C (p.Gln1756His)
8g.41668462C>TCA460782079ANK1c.5322G>A (p.Gln1774=)
c.5418G>A (p.Gln1806=)
c.5235G>A (p.Gln1745=)
c.5199G>A (p.Gln1733=)
c.1213G>A
c.771G>A
c.2677G>A
n.2593G>A
c.4713G>A (p.Gln1571=)
c.5463G>A (p.Gln1821=)
c.5364G>A (p.Gln1788=)
c.5298G>A (p.Gln1766=)
c.5280G>A (p.Gln1760=)
c.4932G>A (p.Gln1644=)
c.4812G>A (p.Gln1604=)
c.5023G>A (p.Gly1675Arg)
n.5054G>A
c.5439G>A (p.Gln1813=)
c.5376G>A (p.Gln1792=)
c.5367G>A (p.Gln1789=)
c.4977G>A (p.Gln1659=)
c.4836G>A (p.Gln1612=)
c.5268G>A (p.Gln1756=)
8g.41668463T>ACA371051689ANK1c.5321A>T (p.Gln1774Leu)
c.5417A>T (p.Gln1806Leu)
c.5234A>T (p.Gln1745Leu)
c.5198A>T (p.Gln1733Leu)
c.1212A>T
c.770A>T
c.2676A>T
n.2592A>T
c.4712A>T (p.Gln1571Leu)
c.5462A>T (p.Gln1821Leu)
c.5363A>T (p.Gln1788Leu)
c.5297A>T (p.Gln1766Leu)
c.5279A>T (p.Gln1760Leu)
c.4931A>T (p.Gln1644Leu)
c.4811A>T (p.Gln1604Leu)
c.5022A>T (p.Pro1674=)
n.5053A>T
c.5438A>T (p.Gln1813Leu)
c.5375A>T (p.Gln1792Leu)
c.5366A>T (p.Gln1789Leu)
c.4976A>T (p.Gln1659Leu)
c.4835A>T (p.Gln1612Leu)
c.5267A>T (p.Gln1756Leu)
8g.41668463T>CCA371051686ANK1c.5321A>G (p.Gln1774Arg)
c.5417A>G (p.Gln1806Arg)
c.5234A>G (p.Gln1745Arg)
c.5198A>G (p.Gln1733Arg)
c.1212A>G
c.770A>G
c.2676A>G
n.2592A>G
c.4712A>G (p.Gln1571Arg)
c.5462A>G (p.Gln1821Arg)
c.5363A>G (p.Gln1788Arg)
c.5297A>G (p.Gln1766Arg)
c.5279A>G (p.Gln1760Arg)
c.4931A>G (p.Gln1644Arg)
c.4811A>G (p.Gln1604Arg)
c.5022A>G (p.Pro1674=)
n.5053A>G
c.5438A>G (p.Gln1813Arg)
c.5375A>G (p.Gln1792Arg)
c.5366A>G (p.Gln1789Arg)
c.4976A>G (p.Gln1659Arg)
c.4835A>G (p.Gln1612Arg)
c.5267A>G (p.Gln1756Arg)
 gnomAD v4
8g.41668463T>GCA371051688ANK1c.5321A>C (p.Gln1774Pro)
c.5417A>C (p.Gln1806Pro)
c.5234A>C (p.Gln1745Pro)
c.5198A>C (p.Gln1733Pro)
c.1212A>C
c.770A>C
c.2676A>C
n.2592A>C
c.4712A>C (p.Gln1571Pro)
c.5462A>C (p.Gln1821Pro)
c.5363A>C (p.Gln1788Pro)
c.5297A>C (p.Gln1766Pro)
c.5279A>C (p.Gln1760Pro)
c.4931A>C (p.Gln1644Pro)
c.4811A>C (p.Gln1604Pro)
c.5022A>C (p.Pro1674=)
n.5053A>C
c.5438A>C (p.Gln1813Pro)
c.5375A>C (p.Gln1792Pro)
c.5366A>C (p.Gln1789Pro)
c.4976A>C (p.Gln1659Pro)
c.4835A>C (p.Gln1612Pro)
c.5267A>C (p.Gln1756Pro)
 dbSNP
8g.41668463T=CA1779071254ANK1c.5321A= (p.Gln1774=)
c.5417A= (p.Gln1806=)
c.5234A= (p.Gln1745=)
c.5198A= (p.Gln1733=)
c.1212A=
c.770A=
c.2676A=
n.2592A=
c.4712A= (p.Gln1571=)
c.5462A= (p.Gln1821=)
c.5363A= (p.Gln1788=)
c.5297A= (p.Gln1766=)
c.5279A= (p.Gln1760=)
c.4931A= (p.Gln1644=)
c.4811A= (p.Gln1604=)
c.5022A= (p.Pro1674=)
n.5053A=
c.5438A= (p.Gln1813=)
c.5375A= (p.Gln1792=)
c.5366A= (p.Gln1789=)
c.4976A= (p.Gln1659=)
c.4835A= (p.Gln1612=)
c.5267A= (p.Gln1756=)
8g.41668464G>ACA371051690ANK1c.5320C>T (p.Gln1774Ter)
c.5416C>T (p.Gln1806Ter)
c.5233C>T (p.Gln1745Ter)
c.5197C>T (p.Gln1733Ter)
c.1211C>T
c.769C>T
c.2675C>T
n.2591C>T
c.4711C>T (p.Gln1571Ter)
c.5461C>T (p.Gln1821Ter)
c.5362C>T (p.Gln1788Ter)
c.5296C>T (p.Gln1766Ter)
c.5278C>T (p.Gln1760Ter)
c.4930C>T (p.Gln1644Ter)
c.4810C>T (p.Gln1604Ter)
c.5021C>T (p.Pro1674Leu)
n.5052C>T
c.5437C>T (p.Gln1813Ter)
c.5374C>T (p.Gln1792Ter)
c.5365C>T (p.Gln1789Ter)
c.4975C>T (p.Gln1659Ter)
c.4834C>T (p.Gln1612Ter)
c.5266C>T (p.Gln1756Ter)
 ClinVar
8g.41668464G>CCA371051691ANK1c.5320C>G (p.Gln1774Glu)
c.5416C>G (p.Gln1806Glu)
c.5233C>G (p.Gln1745Glu)
c.5197C>G (p.Gln1733Glu)
c.1211C>G
c.769C>G
c.2675C>G
n.2591C>G
c.4711C>G (p.Gln1571Glu)
c.5461C>G (p.Gln1821Glu)
c.5362C>G (p.Gln1788Glu)
c.5296C>G (p.Gln1766Glu)
c.5278C>G (p.Gln1760Glu)
c.4930C>G (p.Gln1644Glu)
c.4810C>G (p.Gln1604Glu)
c.5021C>G (p.Pro1674Arg)
n.5052C>G
c.5437C>G (p.Gln1813Glu)
c.5374C>G (p.Gln1792Glu)
c.5365C>G (p.Gln1789Glu)
c.4975C>G (p.Gln1659Glu)
c.4834C>G (p.Gln1612Glu)
c.5266C>G (p.Gln1756Glu)
8g.41668464G>TCA371051693ANK1c.5320C>A (p.Gln1774Lys)
c.5416C>A (p.Gln1806Lys)
c.5233C>A (p.Gln1745Lys)
c.5197C>A (p.Gln1733Lys)
c.1211C>A
c.769C>A
c.2675C>A
n.2591C>A
c.4711C>A (p.Gln1571Lys)
c.5461C>A (p.Gln1821Lys)
c.5362C>A (p.Gln1788Lys)
c.5296C>A (p.Gln1766Lys)
c.5278C>A (p.Gln1760Lys)
c.4930C>A (p.Gln1644Lys)
c.4810C>A (p.Gln1604Lys)
c.5021C>A (p.Pro1674Gln)
n.5052C>A
c.5437C>A (p.Gln1813Lys)
c.5374C>A (p.Gln1792Lys)
c.5365C>A (p.Gln1789Lys)
c.4975C>A (p.Gln1659Lys)
c.4834C>A (p.Gln1612Lys)
c.5266C>A (p.Gln1756Lys)
8g.41668465G>ACA460782080ANK1c.5319C>T (p.Phe1773=)
c.5415C>T (p.Phe1805=)
c.5232C>T (p.Phe1744=)
c.5196C>T (p.Phe1732=)
c.1210C>T
c.768C>T
c.2674C>T
n.2590C>T
c.4710C>T (p.Phe1570=)
c.5460C>T (p.Phe1820=)
c.5361C>T (p.Phe1787=)
c.5295C>T (p.Phe1765=)
c.5277C>T (p.Phe1759=)
c.4929C>T (p.Phe1643=)
c.4809C>T (p.Phe1603=)
c.5020C>T (p.Pro1674Ser)
n.5051C>T
c.5436C>T (p.Phe1812=)
c.5373C>T (p.Phe1791=)
c.5364C>T (p.Phe1788=)
c.4974C>T (p.Phe1658=)
c.4833C>T (p.Phe1611=)
c.5265C>T (p.Phe1755=)
 dbSNP gnomAD v4
8g.41668465G>CCA371051695ANK1c.5319C>G (p.Phe1773Leu)
c.5415C>G (p.Phe1805Leu)
c.5232C>G (p.Phe1744Leu)
c.5196C>G (p.Phe1732Leu)
c.1210C>G
c.768C>G
c.2674C>G
n.2590C>G
c.4710C>G (p.Phe1570Leu)
c.5460C>G (p.Phe1820Leu)
c.5361C>G (p.Phe1787Leu)
c.5295C>G (p.Phe1765Leu)
c.5277C>G (p.Phe1759Leu)
c.4929C>G (p.Phe1643Leu)
c.4809C>G (p.Phe1603Leu)
c.5020C>G (p.Pro1674Ala)
n.5051C>G
c.5436C>G (p.Phe1812Leu)
c.5373C>G (p.Phe1791Leu)
c.5364C>G (p.Phe1788Leu)
c.4974C>G (p.Phe1658Leu)
c.4833C>G (p.Phe1611Leu)
c.5265C>G (p.Phe1755Leu)
 dbSNP
8g.41668465G=CA1779071259ANK1c.5319C= (p.Phe1773=)
c.5415C= (p.Phe1805=)
c.5232C= (p.Phe1744=)
c.5196C= (p.Phe1732=)
c.1210C=
c.768C=
c.2674C=
n.2590C=
c.4710C= (p.Phe1570=)
c.5460C= (p.Phe1820=)
c.5361C= (p.Phe1787=)
c.5295C= (p.Phe1765=)
c.5277C= (p.Phe1759=)
c.4929C= (p.Phe1643=)
c.4809C= (p.Phe1603=)
c.5020C= (p.Pro1674=)
n.5051C=
c.5436C= (p.Phe1812=)
c.5373C= (p.Phe1791=)
c.5364C= (p.Phe1788=)
c.4974C= (p.Phe1658=)
c.4833C= (p.Phe1611=)
c.5265C= (p.Phe1755=)
8g.41668465G>TCA371051697ANK1c.5319C>A (p.Phe1773Leu)
c.5415C>A (p.Phe1805Leu)
c.5232C>A (p.Phe1744Leu)
c.5196C>A (p.Phe1732Leu)
c.1210C>A
c.768C>A
c.2674C>A
n.2590C>A
c.4710C>A (p.Phe1570Leu)
c.5460C>A (p.Phe1820Leu)
c.5361C>A (p.Phe1787Leu)
c.5295C>A (p.Phe1765Leu)
c.5277C>A (p.Phe1759Leu)
c.4929C>A (p.Phe1643Leu)
c.4809C>A (p.Phe1603Leu)
c.5020C>A (p.Pro1674Thr)
n.5051C>A
c.5436C>A (p.Phe1812Leu)
c.5373C>A (p.Phe1791Leu)
c.5364C>A (p.Phe1788Leu)
c.4974C>A (p.Phe1658Leu)
c.4833C>A (p.Phe1611Leu)
c.5265C>A (p.Phe1755Leu)
8g.41668466A>CCA371051700ANK1c.5318T>G (p.Phe1773Cys)
c.5414T>G (p.Phe1805Cys)
c.5231T>G (p.Phe1744Cys)
c.5195T>G (p.Phe1732Cys)
c.1209T>G
c.767T>G
c.2673T>G
n.2589T>G
c.4709T>G (p.Phe1570Cys)
c.5459T>G (p.Phe1820Cys)
c.5360T>G (p.Phe1787Cys)
c.5294T>G (p.Phe1765Cys)
c.5276T>G (p.Phe1759Cys)
c.4928T>G (p.Phe1643Cys)
c.4808T>G (p.Phe1603Cys)
c.5019T>G (p.Ile1673Met)
n.5050T>G
c.5435T>G (p.Phe1812Cys)
c.5372T>G (p.Phe1791Cys)
c.5363T>G (p.Phe1788Cys)
c.4973T>G (p.Phe1658Cys)
c.4832T>G (p.Phe1611Cys)
c.5264T>G (p.Phe1755Cys)
8g.41668466A>GCA371051701ANK1c.5318T>C (p.Phe1773Ser)
c.5414T>C (p.Phe1805Ser)
c.5231T>C (p.Phe1744Ser)
c.5195T>C (p.Phe1732Ser)
c.1209T>C
c.767T>C
c.2673T>C
n.2589T>C
c.4709T>C (p.Phe1570Ser)
c.5459T>C (p.Phe1820Ser)
c.5360T>C (p.Phe1787Ser)
c.5294T>C (p.Phe1765Ser)
c.5276T>C (p.Phe1759Ser)
c.4928T>C (p.Phe1643Ser)
c.4808T>C (p.Phe1603Ser)
c.5019T>C (p.Ile1673=)
n.5050T>C
c.5435T>C (p.Phe1812Ser)
c.5372T>C (p.Phe1791Ser)
c.5363T>C (p.Phe1788Ser)
c.4973T>C (p.Phe1658Ser)
c.4832T>C (p.Phe1611Ser)
c.5264T>C (p.Phe1755Ser)
8g.41668466A>TCA371051704ANK1c.5318T>A (p.Phe1773Tyr)
c.5414T>A (p.Phe1805Tyr)
c.5231T>A (p.Phe1744Tyr)
c.5195T>A (p.Phe1732Tyr)
c.1209T>A
c.767T>A
c.2673T>A
n.2589T>A
c.4709T>A (p.Phe1570Tyr)
c.5459T>A (p.Phe1820Tyr)
c.5360T>A (p.Phe1787Tyr)
c.5294T>A (p.Phe1765Tyr)
c.5276T>A (p.Phe1759Tyr)
c.4928T>A (p.Phe1643Tyr)
c.4808T>A (p.Phe1603Tyr)
c.5019T>A (p.Ile1673=)
n.5050T>A
c.5435T>A (p.Phe1812Tyr)
c.5372T>A (p.Phe1791Tyr)
c.5363T>A (p.Phe1788Tyr)
c.4973T>A (p.Phe1658Tyr)
c.4832T>A (p.Phe1611Tyr)
c.5264T>A (p.Phe1755Tyr)
8g.41668467A=CA1779071262ANK1c.5317T= (p.Phe1773=)
c.5413T= (p.Phe1805=)
c.5230T= (p.Phe1744=)
c.5194T= (p.Phe1732=)
c.1208T=
c.766T=
c.2672T=
n.2588T=
c.4708T= (p.Phe1570=)
c.5458T= (p.Phe1820=)
c.5359T= (p.Phe1787=)
c.5293T= (p.Phe1765=)
c.5275T= (p.Phe1759=)
c.4927T= (p.Phe1643=)
c.4807T= (p.Phe1603=)
c.5018T= (p.Ile1673=)
n.5049T=
c.5434T= (p.Phe1812=)
c.5371T= (p.Phe1791=)
c.5362T= (p.Phe1788=)
c.4972T= (p.Phe1658=)
c.4831T= (p.Phe1611=)
c.5263T= (p.Phe1755=)
8g.41668467A>CCA371051706ANK1c.5317T>G (p.Phe1773Val)
c.5413T>G (p.Phe1805Val)
c.5230T>G (p.Phe1744Val)
c.5194T>G (p.Phe1732Val)
c.1208T>G
c.766T>G
c.2672T>G
n.2588T>G
c.4708T>G (p.Phe1570Val)
c.5458T>G (p.Phe1820Val)
c.5359T>G (p.Phe1787Val)
c.5293T>G (p.Phe1765Val)
c.5275T>G (p.Phe1759Val)
c.4927T>G (p.Phe1643Val)
c.4807T>G (p.Phe1603Val)
c.5018T>G (p.Ile1673Ser)
n.5049T>G
c.5434T>G (p.Phe1812Val)
c.5371T>G (p.Phe1791Val)
c.5362T>G (p.Phe1788Val)
c.4972T>G (p.Phe1658Val)
c.4831T>G (p.Phe1611Val)
c.5263T>G (p.Phe1755Val)
8g.41668467A>GCA371051708ANK1c.5317T>C (p.Phe1773Leu)
c.5413T>C (p.Phe1805Leu)
c.5230T>C (p.Phe1744Leu)
c.5194T>C (p.Phe1732Leu)
c.1208T>C
c.766T>C
c.2672T>C
n.2588T>C
c.4708T>C (p.Phe1570Leu)
c.5458T>C (p.Phe1820Leu)
c.5359T>C (p.Phe1787Leu)
c.5293T>C (p.Phe1765Leu)
c.5275T>C (p.Phe1759Leu)
c.4927T>C (p.Phe1643Leu)
c.4807T>C (p.Phe1603Leu)
c.5018T>C (p.Ile1673Thr)
n.5049T>C
c.5434T>C (p.Phe1812Leu)
c.5371T>C (p.Phe1791Leu)
c.5362T>C (p.Phe1788Leu)
c.4972T>C (p.Phe1658Leu)
c.4831T>C (p.Phe1611Leu)
c.5263T>C (p.Phe1755Leu)
 dbSNP
8g.41668467A>TCA371051709ANK1c.5317T>A (p.Phe1773Ile)
c.5413T>A (p.Phe1805Ile)
c.5230T>A (p.Phe1744Ile)
c.5194T>A (p.Phe1732Ile)
c.1208T>A
c.766T>A
c.2672T>A
n.2588T>A
c.4708T>A (p.Phe1570Ile)
c.5458T>A (p.Phe1820Ile)
c.5359T>A (p.Phe1787Ile)
c.5293T>A (p.Phe1765Ile)
c.5275T>A (p.Phe1759Ile)
c.4927T>A (p.Phe1643Ile)
c.4807T>A (p.Phe1603Ile)
c.5018T>A (p.Ile1673Asn)
n.5049T>A
c.5434T>A (p.Phe1812Ile)
c.5371T>A (p.Phe1791Ile)
c.5362T>A (p.Phe1788Ile)
c.4972T>A (p.Phe1658Ile)
c.4831T>A (p.Phe1611Ile)
c.5263T>A (p.Phe1755Ile)
8g.41668468T>ACA460782081ANK1c.5316A>T (p.Ser1772=)
c.5412A>T (p.Ser1804=)
c.5229A>T (p.Ser1743=)
c.5193A>T (p.Ser1731=)
c.1207A>T
c.765A>T
c.2671A>T
n.2587A>T
c.4707A>T (p.Ser1569=)
c.5457A>T (p.Ser1819=)
c.5358A>T (p.Ser1786=)
c.5292A>T (p.Ser1764=)
c.5274A>T (p.Ser1758=)
c.4926A>T (p.Ser1642=)
c.4806A>T (p.Ser1602=)
c.5017A>T (p.Ile1673Phe)
n.5048A>T
c.5433A>T (p.Ser1811=)
c.5370A>T (p.Ser1790=)
c.5361A>T (p.Ser1787=)
c.4971A>T (p.Ser1657=)
c.4830A>T (p.Ser1610=)
c.5262A>T (p.Ser1754=)
 gnomAD v4
8g.41668468T>CCA460782082ANK1c.5316A>G (p.Ser1772=)
c.5412A>G (p.Ser1804=)
c.5229A>G (p.Ser1743=)
c.5193A>G (p.Ser1731=)
c.1207A>G
c.765A>G
c.2671A>G
n.2587A>G
c.4707A>G (p.Ser1569=)
c.5457A>G (p.Ser1819=)
c.5358A>G (p.Ser1786=)
c.5292A>G (p.Ser1764=)
c.5274A>G (p.Ser1758=)
c.4926A>G (p.Ser1642=)
c.4806A>G (p.Ser1602=)
c.5017A>G (p.Ile1673Val)
n.5048A>G
c.5433A>G (p.Ser1811=)
c.5370A>G (p.Ser1790=)
c.5361A>G (p.Ser1787=)
c.4971A>G (p.Ser1657=)
c.4830A>G (p.Ser1610=)
c.5262A>G (p.Ser1754=)
 gnomAD v4
8g.41668468T>GCA460782083ANK1c.5316A>C (p.Ser1772=)
c.5412A>C (p.Ser1804=)
c.5229A>C (p.Ser1743=)
c.5193A>C (p.Ser1731=)
c.1207A>C
c.765A>C
c.2671A>C
n.2587A>C
c.4707A>C (p.Ser1569=)
c.5457A>C (p.Ser1819=)
c.5358A>C (p.Ser1786=)
c.5292A>C (p.Ser1764=)
c.5274A>C (p.Ser1758=)
c.4926A>C (p.Ser1642=)
c.4806A>C (p.Ser1602=)
c.5017A>C (p.Ile1673Leu)
n.5048A>C
c.5433A>C (p.Ser1811=)
c.5370A>C (p.Ser1790=)
c.5361A>C (p.Ser1787=)
c.4971A>C (p.Ser1657=)
c.4830A>C (p.Ser1610=)
c.5262A>C (p.Ser1754=)
8g.41668469G>ACA371051715ANK1c.5315C>T (p.Ser1772Leu)
c.5411C>T (p.Ser1804Leu)
c.5228C>T (p.Ser1743Leu)
c.5192C>T (p.Ser1731Leu)
c.1206C>T
c.764C>T
c.2670C>T
n.2586C>T
c.4706C>T (p.Ser1569Leu)
c.5456C>T (p.Ser1819Leu)
c.5357C>T (p.Ser1786Leu)
c.5291C>T (p.Ser1764Leu)
c.5273C>T (p.Ser1758Leu)
c.4925C>T (p.Ser1642Leu)
c.4805C>T (p.Ser1602Leu)
c.5016C>T (p.Leu1672=)
n.5047C>T
c.5432C>T (p.Ser1811Leu)
c.5369C>T (p.Ser1790Leu)
c.5360C>T (p.Ser1787Leu)
c.4970C>T (p.Ser1657Leu)
c.4829C>T (p.Ser1610Leu)
c.5261C>T (p.Ser1754Leu)
8g.41668469G>CCA371051711ANK1c.5315C>G (p.Ser1772Ter)
c.5411C>G (p.Ser1804Ter)
c.5228C>G (p.Ser1743Ter)
c.5192C>G (p.Ser1731Ter)
c.1206C>G
c.764C>G
c.2670C>G
n.2586C>G
c.4706C>G (p.Ser1569Ter)
c.5456C>G (p.Ser1819Ter)
c.5357C>G (p.Ser1786Ter)
c.5291C>G (p.Ser1764Ter)
c.5273C>G (p.Ser1758Ter)
c.4925C>G (p.Ser1642Ter)
c.4805C>G (p.Ser1602Ter)
c.5016C>G (p.Leu1672=)
n.5047C>G
c.5432C>G (p.Ser1811Ter)
c.5369C>G (p.Ser1790Ter)
c.5360C>G (p.Ser1787Ter)
c.4970C>G (p.Ser1657Ter)
c.4829C>G (p.Ser1610Ter)
c.5261C>G (p.Ser1754Ter)
 ClinVar gnomAD v4
8g.41668469G>TCA371051713ANK1c.5315C>A (p.Ser1772Ter)
c.5411C>A (p.Ser1804Ter)
c.5228C>A (p.Ser1743Ter)
c.5192C>A (p.Ser1731Ter)
c.1206C>A
c.764C>A
c.2670C>A
n.2586C>A
c.4706C>A (p.Ser1569Ter)
c.5456C>A (p.Ser1819Ter)
c.5357C>A (p.Ser1786Ter)
c.5291C>A (p.Ser1764Ter)
c.5273C>A (p.Ser1758Ter)
c.4925C>A (p.Ser1642Ter)
c.4805C>A (p.Ser1602Ter)
c.5016C>A (p.Leu1672=)
n.5047C>A
c.5432C>A (p.Ser1811Ter)
c.5369C>A (p.Ser1790Ter)
c.5360C>A (p.Ser1787Ter)
c.4970C>A (p.Ser1657Ter)
c.4829C>A (p.Ser1610Ter)
c.5261C>A (p.Ser1754Ter)
8g.41668470A>CCA371051717ANK1c.5314T>G (p.Ser1772Ala)
c.5410T>G (p.Ser1804Ala)
c.5227T>G (p.Ser1743Ala)
c.5191T>G (p.Ser1731Ala)
c.1205T>G
c.763T>G
c.2669T>G
n.2585T>G
c.4705T>G (p.Ser1569Ala)
c.5455T>G (p.Ser1819Ala)
c.5356T>G (p.Ser1786Ala)
c.5290T>G (p.Ser1764Ala)
c.5272T>G (p.Ser1758Ala)
c.4924T>G (p.Ser1642Ala)
c.4804T>G (p.Ser1602Ala)
c.5015T>G (p.Leu1672Arg)
n.5046T>G
c.5431T>G (p.Ser1811Ala)
c.5368T>G (p.Ser1790Ala)
c.5359T>G (p.Ser1787Ala)
c.4969T>G (p.Ser1657Ala)
c.4828T>G (p.Ser1610Ala)
c.5260T>G (p.Ser1754Ala)
8g.41668470A>GCA371051719ANK1c.5314T>C (p.Ser1772Pro)
c.5410T>C (p.Ser1804Pro)
c.5227T>C (p.Ser1743Pro)
c.5191T>C (p.Ser1731Pro)
c.1205T>C
c.763T>C
c.2669T>C
n.2585T>C
c.4705T>C (p.Ser1569Pro)
c.5455T>C (p.Ser1819Pro)
c.5356T>C (p.Ser1786Pro)
c.5290T>C (p.Ser1764Pro)
c.5272T>C (p.Ser1758Pro)
c.4924T>C (p.Ser1642Pro)
c.4804T>C (p.Ser1602Pro)
c.5015T>C (p.Leu1672Pro)
n.5046T>C
c.5431T>C (p.Ser1811Pro)
c.5368T>C (p.Ser1790Pro)
c.5359T>C (p.Ser1787Pro)
c.4969T>C (p.Ser1657Pro)
c.4828T>C (p.Ser1610Pro)
c.5260T>C (p.Ser1754Pro)
8g.41668470A>TCA371051720ANK1c.5314T>A (p.Ser1772Thr)
c.5410T>A (p.Ser1804Thr)
c.5227T>A (p.Ser1743Thr)
c.5191T>A (p.Ser1731Thr)
c.1205T>A
c.763T>A
c.2669T>A
n.2585T>A
c.4705T>A (p.Ser1569Thr)
c.5455T>A (p.Ser1819Thr)
c.5356T>A (p.Ser1786Thr)
c.5290T>A (p.Ser1764Thr)
c.5272T>A (p.Ser1758Thr)
c.4924T>A (p.Ser1642Thr)
c.4804T>A (p.Ser1602Thr)
c.5015T>A (p.Leu1672His)
n.5046T>A
c.5431T>A (p.Ser1811Thr)
c.5368T>A (p.Ser1790Thr)
c.5359T>A (p.Ser1787Thr)
c.4969T>A (p.Ser1657Thr)
c.4828T>A (p.Ser1610Thr)
c.5260T>A (p.Ser1754Thr)
8g.41668471G>ACA460782084ANK1c.5313C>T (p.His1771=)
c.5409C>T (p.His1803=)
c.5226C>T (p.His1742=)
c.5190C>T (p.His1730=)
c.1204C>T
c.762C>T
c.2668C>T
n.2584C>T
c.4704C>T (p.His1568=)
c.5454C>T (p.His1818=)
c.5355C>T (p.His1785=)
c.5289C>T (p.His1763=)
c.5271C>T (p.His1757=)
c.4923C>T (p.His1641=)
c.4803C>T (p.His1601=)
c.5014C>T (p.Leu1672Phe)
n.5045C>T
c.5430C>T (p.His1810=)
c.5367C>T (p.His1789=)
c.5358C>T (p.His1786=)
c.4968C>T (p.His1656=)
c.4827C>T (p.His1609=)
c.5259C>T (p.His1753=)
8g.41668471G>CCA371051722ANK1c.5313C>G (p.His1771Gln)
c.5409C>G (p.His1803Gln)
c.5226C>G (p.His1742Gln)
c.5190C>G (p.His1730Gln)
c.1204C>G
c.762C>G
c.2668C>G
n.2584C>G
c.4704C>G (p.His1568Gln)
c.5454C>G (p.His1818Gln)
c.5355C>G (p.His1785Gln)
c.5289C>G (p.His1763Gln)
c.5271C>G (p.His1757Gln)
c.4923C>G (p.His1641Gln)
c.4803C>G (p.His1601Gln)
c.5014C>G (p.Leu1672Val)
n.5045C>G
c.5430C>G (p.His1810Gln)
c.5367C>G (p.His1789Gln)
c.5358C>G (p.His1786Gln)
c.4968C>G (p.His1656Gln)
c.4827C>G (p.His1609Gln)
c.5259C>G (p.His1753Gln)
8g.41668471G>TCA371051724ANK1c.5313C>A (p.His1771Gln)
c.5409C>A (p.His1803Gln)
c.5226C>A (p.His1742Gln)
c.5190C>A (p.His1730Gln)
c.1204C>A
c.762C>A
c.2668C>A
n.2584C>A
c.4704C>A (p.His1568Gln)
c.5454C>A (p.His1818Gln)
c.5355C>A (p.His1785Gln)
c.5289C>A (p.His1763Gln)
c.5271C>A (p.His1757Gln)
c.4923C>A (p.His1641Gln)
c.4803C>A (p.His1601Gln)
c.5014C>A (p.Leu1672Ile)
n.5045C>A
c.5430C>A (p.His1810Gln)
c.5367C>A (p.His1789Gln)
c.5358C>A (p.His1786Gln)
c.4968C>A (p.His1656Gln)
c.4827C>A (p.His1609Gln)
c.5259C>A (p.His1753Gln)
8g.41668472T>ACA371051726ANK1c.5312A>T (p.His1771Leu)
c.5408A>T (p.His1803Leu)
c.5225A>T (p.His1742Leu)
c.5189A>T (p.His1730Leu)
c.1203A>T
c.761A>T
c.2667A>T
n.2583A>T
c.4703A>T (p.His1568Leu)
c.5453A>T (p.His1818Leu)
c.5354A>T (p.His1785Leu)
c.5288A>T (p.His1763Leu)
c.5270A>T (p.His1757Leu)
c.4922A>T (p.His1641Leu)
c.4802A>T (p.His1601Leu)
c.5013A>T (p.Thr1671=)
n.5044A>T
c.5429A>T (p.His1810Leu)
c.5366A>T (p.His1789Leu)
c.5357A>T (p.His1786Leu)
c.4967A>T (p.His1656Leu)
c.4826A>T (p.His1609Leu)
c.5258A>T (p.His1753Leu)
 ClinVar
8g.41668472T>CCA371051727ANK1c.5312A>G (p.His1771Arg)
c.5408A>G (p.His1803Arg)
c.5225A>G (p.His1742Arg)
c.5189A>G (p.His1730Arg)
c.1203A>G
c.761A>G
c.2667A>G
n.2583A>G
c.4703A>G (p.His1568Arg)
c.5453A>G (p.His1818Arg)
c.5354A>G (p.His1785Arg)
c.5288A>G (p.His1763Arg)
c.5270A>G (p.His1757Arg)
c.4922A>G (p.His1641Arg)
c.4802A>G (p.His1601Arg)
c.5013A>G (p.Thr1671=)
n.5044A>G
c.5429A>G (p.His1810Arg)
c.5366A>G (p.His1789Arg)
c.5357A>G (p.His1786Arg)
c.4967A>G (p.His1656Arg)
c.4826A>G (p.His1609Arg)
c.5258A>G (p.His1753Arg)
 gnomAD v4
8g.41668472T>GCA371051729ANK1c.5312A>C (p.His1771Pro)
c.5408A>C (p.His1803Pro)
c.5225A>C (p.His1742Pro)
c.5189A>C (p.His1730Pro)
c.1203A>C
c.761A>C
c.2667A>C
n.2583A>C
c.4703A>C (p.His1568Pro)
c.5453A>C (p.His1818Pro)
c.5354A>C (p.His1785Pro)
c.5288A>C (p.His1763Pro)
c.5270A>C (p.His1757Pro)
c.4922A>C (p.His1641Pro)
c.4802A>C (p.His1601Pro)
c.5013A>C (p.Thr1671=)
n.5044A>C
c.5429A>C (p.His1810Pro)
c.5366A>C (p.His1789Pro)
c.5357A>C (p.His1786Pro)
c.4967A>C (p.His1656Pro)
c.4826A>C (p.His1609Pro)
c.5258A>C (p.His1753Pro)
8g.41668473G>ACA371051731ANK1c.5311C>T (p.His1771Tyr)
c.5407C>T (p.His1803Tyr)
c.5224C>T (p.His1742Tyr)
c.5188C>T (p.His1730Tyr)
c.1202C>T
c.760C>T
c.2666C>T
n.2582C>T
c.4702C>T (p.His1568Tyr)
c.5452C>T (p.His1818Tyr)
c.5353C>T (p.His1785Tyr)
c.5287C>T (p.His1763Tyr)
c.5269C>T (p.His1757Tyr)
c.4921C>T (p.His1641Tyr)
c.4801C>T (p.His1601Tyr)
c.5012C>T (p.Thr1671Ile)
n.5043C>T
c.5428C>T (p.His1810Tyr)
c.5365C>T (p.His1789Tyr)
c.5356C>T (p.His1786Tyr)
c.4966C>T (p.His1656Tyr)
c.4825C>T (p.His1609Tyr)
c.5257C>T (p.His1753Tyr)
 gnomAD v4
8g.41668473G>CCA371051732ANK1c.5311C>G (p.His1771Asp)
c.5407C>G (p.His1803Asp)
c.5224C>G (p.His1742Asp)
c.5188C>G (p.His1730Asp)
c.1202C>G
c.760C>G
c.2666C>G
n.2582C>G
c.4702C>G (p.His1568Asp)
c.5452C>G (p.His1818Asp)
c.5353C>G (p.His1785Asp)
c.5287C>G (p.His1763Asp)
c.5269C>G (p.His1757Asp)
c.4921C>G (p.His1641Asp)
c.4801C>G (p.His1601Asp)
c.5012C>G (p.Thr1671Arg)
n.5043C>G
c.5428C>G (p.His1810Asp)
c.5365C>G (p.His1789Asp)
c.5356C>G (p.His1786Asp)
c.4966C>G (p.His1656Asp)
c.4825C>G (p.His1609Asp)
c.5257C>G (p.His1753Asp)
8g.41668473G>TCA371051733ANK1c.5311C>A (p.His1771Asn)
c.5407C>A (p.His1803Asn)
c.5224C>A (p.His1742Asn)
c.5188C>A (p.His1730Asn)
c.1202C>A
c.760C>A
c.2666C>A
n.2582C>A
c.4702C>A (p.His1568Asn)
c.5452C>A (p.His1818Asn)
c.5353C>A (p.His1785Asn)
c.5287C>A (p.His1763Asn)
c.5269C>A (p.His1757Asn)
c.4921C>A (p.His1641Asn)
c.4801C>A (p.His1601Asn)
c.5012C>A (p.Thr1671Lys)
n.5043C>A
c.5428C>A (p.His1810Asn)
c.5365C>A (p.His1789Asn)
c.5356C>A (p.His1786Asn)
c.4966C>A (p.His1656Asn)
c.4825C>A (p.His1609Asn)
c.5257C>A (p.His1753Asn)
8g.41668474T>ACA460782085ANK1c.5310A>T (p.Pro1770=)
c.5406A>T (p.Pro1802=)
c.5223A>T (p.Pro1741=)
c.5187A>T (p.Pro1729=)
c.1201A>T
c.759A>T
c.2665A>T
n.2581A>T
c.4701A>T (p.Pro1567=)
c.5451A>T (p.Pro1817=)
c.5352A>T (p.Pro1784=)
c.5286A>T (p.Pro1762=)
c.5268A>T (p.Pro1756=)
c.4920A>T (p.Pro1640=)
c.4800A>T (p.Pro1600=)
c.5011A>T (p.Thr1671Ser)
n.5042A>T
c.5427A>T (p.Pro1809=)
c.5364A>T (p.Pro1788=)
c.5355A>T (p.Pro1785=)
c.4965A>T (p.Pro1655=)
c.4824A>T (p.Pro1608=)
c.5256A>T (p.Pro1752=)
8g.41668474T>CCA460782086ANK1c.5310A>G (p.Pro1770=)
c.5406A>G (p.Pro1802=)
c.5223A>G (p.Pro1741=)
c.5187A>G (p.Pro1729=)
c.1201A>G
c.759A>G
c.2665A>G
n.2581A>G
c.4701A>G (p.Pro1567=)
c.5451A>G (p.Pro1817=)
c.5352A>G (p.Pro1784=)
c.5286A>G (p.Pro1762=)
c.5268A>G (p.Pro1756=)
c.4920A>G (p.Pro1640=)
c.4800A>G (p.Pro1600=)
c.5011A>G (p.Thr1671Ala)
n.5042A>G
c.5427A>G (p.Pro1809=)
c.5364A>G (p.Pro1788=)
c.5355A>G (p.Pro1785=)
c.4965A>G (p.Pro1655=)
c.4824A>G (p.Pro1608=)
c.5256A>G (p.Pro1752=)
8g.41668474T>GCA460782087ANK1c.5310A>C (p.Pro1770=)
c.5406A>C (p.Pro1802=)
c.5223A>C (p.Pro1741=)
c.5187A>C (p.Pro1729=)
c.1201A>C
c.759A>C
c.2665A>C
n.2581A>C
c.4701A>C (p.Pro1567=)
c.5451A>C (p.Pro1817=)
c.5352A>C (p.Pro1784=)
c.5286A>C (p.Pro1762=)
c.5268A>C (p.Pro1756=)
c.4920A>C (p.Pro1640=)
c.4800A>C (p.Pro1600=)
c.5011A>C (p.Thr1671Pro)
n.5042A>C
c.5427A>C (p.Pro1809=)
c.5364A>C (p.Pro1788=)
c.5355A>C (p.Pro1785=)
c.4965A>C (p.Pro1655=)
c.4824A>C (p.Pro1608=)
c.5256A>C (p.Pro1752=)
8g.41668475G>ACA371051738ANK1c.5309C>T (p.Pro1770Leu)
c.5405C>T (p.Pro1802Leu)
c.5222C>T (p.Pro1741Leu)
c.5186C>T (p.Pro1729Leu)
c.1200C>T
c.758C>T
c.2664C>T
n.2580C>T
c.4700C>T (p.Pro1567Leu)
c.5450C>T (p.Pro1817Leu)
c.5351C>T (p.Pro1784Leu)
c.5285C>T (p.Pro1762Leu)
c.5267C>T (p.Pro1756Leu)
c.4919C>T (p.Pro1640Leu)
c.4799C>T (p.Pro1600Leu)
c.5010C>T (p.Ser1670=)
n.5041C>T
c.5426C>T (p.Pro1809Leu)
c.5363C>T (p.Pro1788Leu)
c.5354C>T (p.Pro1785Leu)
c.4964C>T (p.Pro1655Leu)
c.4823C>T (p.Pro1608Leu)
c.5255C>T (p.Pro1752Leu)
8g.41668475G>CCA371051737ANK1c.5309C>G (p.Pro1770Arg)
c.5405C>G (p.Pro1802Arg)
c.5222C>G (p.Pro1741Arg)
c.5186C>G (p.Pro1729Arg)
c.1200C>G
c.758C>G
c.2664C>G
n.2580C>G
c.4700C>G (p.Pro1567Arg)
c.5450C>G (p.Pro1817Arg)
c.5351C>G (p.Pro1784Arg)
c.5285C>G (p.Pro1762Arg)
c.5267C>G (p.Pro1756Arg)
c.4919C>G (p.Pro1640Arg)
c.4799C>G (p.Pro1600Arg)
c.5010C>G (p.Ser1670=)
n.5041C>G
c.5426C>G (p.Pro1809Arg)
c.5363C>G (p.Pro1788Arg)
c.5354C>G (p.Pro1785Arg)
c.4964C>G (p.Pro1655Arg)
c.4823C>G (p.Pro1608Arg)
c.5255C>G (p.Pro1752Arg)
8g.41668475G>TCA371051736ANK1c.5309C>A (p.Pro1770Gln)
c.5405C>A (p.Pro1802Gln)
c.5222C>A (p.Pro1741Gln)
c.5186C>A (p.Pro1729Gln)
c.1200C>A
c.758C>A
c.2664C>A
n.2580C>A
c.4700C>A (p.Pro1567Gln)
c.5450C>A (p.Pro1817Gln)
c.5351C>A (p.Pro1784Gln)
c.5285C>A (p.Pro1762Gln)
c.5267C>A (p.Pro1756Gln)
c.4919C>A (p.Pro1640Gln)
c.4799C>A (p.Pro1600Gln)
c.5010C>A (p.Ser1670=)
n.5041C>A
c.5426C>A (p.Pro1809Gln)
c.5363C>A (p.Pro1788Gln)
c.5354C>A (p.Pro1785Gln)
c.4964C>A (p.Pro1655Gln)
c.4823C>A (p.Pro1608Gln)
c.5255C>A (p.Pro1752Gln)
8g.41668476G>ACA371051741ANK1c.5308C>T (p.Pro1770Ser)
c.5404C>T (p.Pro1802Ser)
c.5221C>T (p.Pro1741Ser)
c.5185C>T (p.Pro1729Ser)
c.1199C>T
c.757C>T
c.2663C>T
n.2579C>T
c.4699C>T (p.Pro1567Ser)
c.5449C>T (p.Pro1817Ser)
c.5350C>T (p.Pro1784Ser)
c.5284C>T (p.Pro1762Ser)
c.5266C>T (p.Pro1756Ser)
c.4918C>T (p.Pro1640Ser)
c.4798C>T (p.Pro1600Ser)
c.5009C>T (p.Ser1670Phe)
n.5040C>T
c.5425C>T (p.Pro1809Ser)
c.5362C>T (p.Pro1788Ser)
c.5353C>T (p.Pro1785Ser)
c.4963C>T (p.Pro1655Ser)
c.4822C>T (p.Pro1608Ser)
c.5254C>T (p.Pro1752Ser)
 dbSNP
8g.41668476G>CCA371051743ANK1c.5308C>G (p.Pro1770Ala)
c.5404C>G (p.Pro1802Ala)
c.5221C>G (p.Pro1741Ala)
c.5185C>G (p.Pro1729Ala)
c.1199C>G
c.757C>G
c.2663C>G
n.2579C>G
c.4699C>G (p.Pro1567Ala)
c.5449C>G (p.Pro1817Ala)
c.5350C>G (p.Pro1784Ala)
c.5284C>G (p.Pro1762Ala)
c.5266C>G (p.Pro1756Ala)
c.4918C>G (p.Pro1640Ala)
c.4798C>G (p.Pro1600Ala)
c.5009C>G (p.Ser1670Cys)
n.5040C>G
c.5425C>G (p.Pro1809Ala)
c.5362C>G (p.Pro1788Ala)
c.5353C>G (p.Pro1785Ala)
c.4963C>G (p.Pro1655Ala)
c.4822C>G (p.Pro1608Ala)
c.5254C>G (p.Pro1752Ala)
8g.41668476G=CA1779071264ANK1c.5308C= (p.Pro1770=)
c.5404C= (p.Pro1802=)
c.5221C= (p.Pro1741=)
c.5185C= (p.Pro1729=)
c.1199C=
c.757C=
c.2663C=
n.2579C=
c.4699C= (p.Pro1567=)
c.5449C= (p.Pro1817=)
c.5350C= (p.Pro1784=)
c.5284C= (p.Pro1762=)
c.5266C= (p.Pro1756=)
c.4918C= (p.Pro1640=)
c.4798C= (p.Pro1600=)
c.5009C= (p.Ser1670=)
n.5040C=
c.5425C= (p.Pro1809=)
c.5362C= (p.Pro1788=)
c.5353C= (p.Pro1785=)
c.4963C= (p.Pro1655=)
c.4822C= (p.Pro1608=)
c.5254C= (p.Pro1752=)
8g.41668476G>TCA371051744ANK1c.5308C>A (p.Pro1770Thr)
c.5404C>A (p.Pro1802Thr)
c.5221C>A (p.Pro1741Thr)
c.5185C>A (p.Pro1729Thr)
c.1199C>A
c.757C>A
c.2663C>A
n.2579C>A
c.4699C>A (p.Pro1567Thr)
c.5449C>A (p.Pro1817Thr)
c.5350C>A (p.Pro1784Thr)
c.5284C>A (p.Pro1762Thr)
c.5266C>A (p.Pro1756Thr)
c.4918C>A (p.Pro1640Thr)
c.4798C>A (p.Pro1600Thr)
c.5009C>A (p.Ser1670Tyr)
n.5040C>A
c.5425C>A (p.Pro1809Thr)
c.5362C>A (p.Pro1788Thr)
c.5353C>A (p.Pro1785Thr)
c.4963C>A (p.Pro1655Thr)
c.4822C>A (p.Pro1608Thr)
c.5254C>A (p.Pro1752Thr)
8g.41668477A=CA1779071269ANK1c.5307T= (p.Gly1769=)
c.5403T= (p.Gly1801=)
c.5220T= (p.Gly1740=)
c.5184T= (p.Gly1728=)
c.1198T=
c.756T=
c.2662T=
n.2578T=
c.4698T= (p.Gly1566=)
c.5448T= (p.Gly1816=)
c.5349T= (p.Gly1783=)
c.5283T= (p.Gly1761=)
c.5265T= (p.Gly1755=)
c.4917T= (p.Gly1639=)
c.4797T= (p.Gly1599=)
c.5008T= (p.Ser1670=)
n.5039T=
c.5424T= (p.Gly1808=)
c.5361T= (p.Gly1787=)
c.5352T= (p.Gly1784=)
c.4962T= (p.Gly1654=)
c.4821T= (p.Gly1607=)
c.5253T= (p.Gly1751=)
8g.41668477A>CCA460782088ANK1c.5307T>G (p.Gly1769=)
c.5403T>G (p.Gly1801=)
c.5220T>G (p.Gly1740=)
c.5184T>G (p.Gly1728=)
c.1198T>G
c.756T>G
c.2662T>G
n.2578T>G
c.4698T>G (p.Gly1566=)
c.5448T>G (p.Gly1816=)
c.5349T>G (p.Gly1783=)
c.5283T>G (p.Gly1761=)
c.5265T>G (p.Gly1755=)
c.4917T>G (p.Gly1639=)
c.4797T>G (p.Gly1599=)
c.5008T>G (p.Ser1670Ala)
n.5039T>G
c.5424T>G (p.Gly1808=)
c.5361T>G (p.Gly1787=)
c.5352T>G (p.Gly1784=)
c.4962T>G (p.Gly1654=)
c.4821T>G (p.Gly1607=)
c.5253T>G (p.Gly1751=)
8g.41668477A>GCA4727352ANK1c.5307T>C (p.Gly1769=)
c.5403T>C (p.Gly1801=)
c.5220T>C (p.Gly1740=)
c.5184T>C (p.Gly1728=)
c.1198T>C
c.756T>C
c.2662T>C
n.2578T>C
c.4698T>C (p.Gly1566=)
c.5448T>C (p.Gly1816=)
c.5349T>C (p.Gly1783=)
c.5283T>C (p.Gly1761=)
c.5265T>C (p.Gly1755=)
c.4917T>C (p.Gly1639=)
c.4797T>C (p.Gly1599=)
c.5008T>C (p.Ser1670Pro)
n.5039T>C
c.5424T>C (p.Gly1808=)
c.5361T>C (p.Gly1787=)
c.5352T>C (p.Gly1784=)
c.4962T>C (p.Gly1654=)
c.4821T>C (p.Gly1607=)
c.5253T>C (p.Gly1751=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.41668477A>TCA460782089ANK1c.5307T>A (p.Gly1769=)
c.5403T>A (p.Gly1801=)
c.5220T>A (p.Gly1740=)
c.5184T>A (p.Gly1728=)
c.1198T>A
c.756T>A
c.2662T>A
n.2578T>A
c.4698T>A (p.Gly1566=)
c.5448T>A (p.Gly1816=)
c.5349T>A (p.Gly1783=)
c.5283T>A (p.Gly1761=)
c.5265T>A (p.Gly1755=)
c.4917T>A (p.Gly1639=)
c.4797T>A (p.Gly1599=)
c.5008T>A (p.Ser1670Thr)
n.5039T>A
c.5424T>A (p.Gly1808=)
c.5361T>A (p.Gly1787=)
c.5352T>A (p.Gly1784=)
c.4962T>A (p.Gly1654=)
c.4821T>A (p.Gly1607=)
c.5253T>A (p.Gly1751=)
8g.41668478C>ACA371051749ANK1c.5306G>T (p.Gly1769Val)
c.5402G>T (p.Gly1801Val)
c.5219G>T (p.Gly1740Val)
c.5183G>T (p.Gly1728Val)
c.1197G>T
c.755G>T
c.2661G>T
n.2577G>T
c.4697G>T (p.Gly1566Val)
c.5447G>T (p.Gly1816Val)
c.5348G>T (p.Gly1783Val)
c.5282G>T (p.Gly1761Val)
c.5264G>T (p.Gly1755Val)
c.4916G>T (p.Gly1639Val)
c.4796G>T (p.Gly1599Val)
c.5007G>T (p.Arg1669Ser)
n.5038G>T
c.5423G>T (p.Gly1808Val)
c.5360G>T (p.Gly1787Val)
c.5351G>T (p.Gly1784Val)
c.4961G>T (p.Gly1654Val)
c.4820G>T (p.Gly1607Val)
c.5252G>T (p.Gly1751Val)
8g.41668478C>GCA371051751ANK1c.5306G>C (p.Gly1769Ala)
c.5402G>C (p.Gly1801Ala)
c.5219G>C (p.Gly1740Ala)
c.5183G>C (p.Gly1728Ala)
c.1197G>C
c.755G>C
c.2661G>C
n.2577G>C
c.4697G>C (p.Gly1566Ala)
c.5447G>C (p.Gly1816Ala)
c.5348G>C (p.Gly1783Ala)
c.5282G>C (p.Gly1761Ala)
c.5264G>C (p.Gly1755Ala)
c.4916G>C (p.Gly1639Ala)
c.4796G>C (p.Gly1599Ala)
c.5007G>C (p.Arg1669Ser)
n.5038G>C
c.5423G>C (p.Gly1808Ala)
c.5360G>C (p.Gly1787Ala)
c.5351G>C (p.Gly1784Ala)
c.4961G>C (p.Gly1654Ala)
c.4820G>C (p.Gly1607Ala)
c.5252G>C (p.Gly1751Ala)
8g.41668478C>TCA371051753ANK1c.5306G>A (p.Gly1769Asp)
c.5402G>A (p.Gly1801Asp)
c.5219G>A (p.Gly1740Asp)
c.5183G>A (p.Gly1728Asp)
c.1197G>A
c.755G>A
c.2661G>A
n.2577G>A
c.4697G>A (p.Gly1566Asp)
c.5447G>A (p.Gly1816Asp)
c.5348G>A (p.Gly1783Asp)
c.5282G>A (p.Gly1761Asp)
c.5264G>A (p.Gly1755Asp)
c.4916G>A (p.Gly1639Asp)
c.4796G>A (p.Gly1599Asp)
c.5007G>A (p.Arg1669=)
n.5038G>A
c.5423G>A (p.Gly1808Asp)
c.5360G>A (p.Gly1787Asp)
c.5351G>A (p.Gly1784Asp)
c.4961G>A (p.Gly1654Asp)
c.4820G>A (p.Gly1607Asp)
c.5252G>A (p.Gly1751Asp)
8g.41668479C>ACA371051755ANK1c.5305G>T (p.Gly1769Cys)
c.5401G>T (p.Gly1801Cys)
c.5218G>T (p.Gly1740Cys)
c.5182G>T (p.Gly1728Cys)
c.1196G>T
c.754G>T
c.2660G>T
n.2576G>T
c.4696G>T (p.Gly1566Cys)
c.5446G>T (p.Gly1816Cys)
c.5347G>T (p.Gly1783Cys)
c.5281G>T (p.Gly1761Cys)
c.5263G>T (p.Gly1755Cys)
c.4915G>T (p.Gly1639Cys)
c.4795G>T (p.Gly1599Cys)
c.5006G>T (p.Arg1669Met)
n.5037G>T
c.5422G>T (p.Gly1808Cys)
c.5359G>T (p.Gly1787Cys)
c.5350G>T (p.Gly1784Cys)
c.4960G>T (p.Gly1654Cys)
c.4819G>T (p.Gly1607Cys)
c.5251G>T (p.Gly1751Cys)
 gnomAD v4
8g.41668479C=CA1779071273ANK1c.5305G= (p.Gly1769=)
c.5401G= (p.Gly1801=)
c.5218G= (p.Gly1740=)
c.5182G= (p.Gly1728=)
c.1196G=
c.754G=
c.2660G=
n.2576G=
c.4696G= (p.Gly1566=)
c.5446G= (p.Gly1816=)
c.5347G= (p.Gly1783=)
c.5281G= (p.Gly1761=)
c.5263G= (p.Gly1755=)
c.4915G= (p.Gly1639=)
c.4795G= (p.Gly1599=)
c.5006G= (p.Arg1669=)
n.5037G=
c.5422G= (p.Gly1808=)
c.5359G= (p.Gly1787=)
c.5350G= (p.Gly1784=)
c.4960G= (p.Gly1654=)
c.4819G= (p.Gly1607=)
c.5251G= (p.Gly1751=)
8g.41668479C>GCA371051758ANK1c.5305G>C (p.Gly1769Arg)
c.5401G>C (p.Gly1801Arg)
c.5218G>C (p.Gly1740Arg)
c.5182G>C (p.Gly1728Arg)
c.1196G>C
c.754G>C
c.2660G>C
n.2576G>C
c.4696G>C (p.Gly1566Arg)
c.5446G>C (p.Gly1816Arg)
c.5347G>C (p.Gly1783Arg)
c.5281G>C (p.Gly1761Arg)
c.5263G>C (p.Gly1755Arg)
c.4915G>C (p.Gly1639Arg)
c.4795G>C (p.Gly1599Arg)
c.5006G>C (p.Arg1669Thr)
n.5037G>C
c.5422G>C (p.Gly1808Arg)
c.5359G>C (p.Gly1787Arg)
c.5350G>C (p.Gly1784Arg)
c.4960G>C (p.Gly1654Arg)
c.4819G>C (p.Gly1607Arg)
c.5251G>C (p.Gly1751Arg)
8g.41668479C>TCA371051759ANK1c.5305G>A (p.Gly1769Ser)
c.5401G>A (p.Gly1801Ser)
c.5218G>A (p.Gly1740Ser)
c.5182G>A (p.Gly1728Ser)
c.1196G>A
c.754G>A
c.2660G>A
n.2576G>A
c.4696G>A (p.Gly1566Ser)
c.5446G>A (p.Gly1816Ser)
c.5347G>A (p.Gly1783Ser)
c.5281G>A (p.Gly1761Ser)
c.5263G>A (p.Gly1755Ser)
c.4915G>A (p.Gly1639Ser)
c.4795G>A (p.Gly1599Ser)
c.5006G>A (p.Arg1669Lys)
n.5037G>A
c.5422G>A (p.Gly1808Ser)
c.5359G>A (p.Gly1787Ser)
c.5350G>A (p.Gly1784Ser)
c.4960G>A (p.Gly1654Ser)
c.4819G>A (p.Gly1607Ser)
c.5251G>A (p.Gly1751Ser)
 dbSNP gnomAD v2 gnomAD v4
8g.41668480T>ACA371051762ANK1c.5304A>T (p.Gln1768His)
c.5400A>T (p.Gln1800His)
c.5217A>T (p.Gln1739His)
c.5181A>T (p.Gln1727His)
c.1195A>T
c.753A>T
c.2659A>T
n.2575A>T
c.4695A>T (p.Gln1565His)
c.5445A>T (p.Gln1815His)
c.5346A>T (p.Gln1782His)
c.5280A>T (p.Gln1760His)
c.5262A>T (p.Gln1754His)
c.4914A>T (p.Gln1638His)
c.4794A>T (p.Gln1598His)
c.5005A>T (p.Arg1669Trp)
n.5036A>T
c.5421A>T (p.Gln1807His)
c.5358A>T (p.Gln1786His)
c.5349A>T (p.Gln1783His)
c.4959A>T (p.Gln1653His)
c.4818A>T (p.Gln1606His)
c.5250A>T (p.Gln1750His)
8g.41668480T>CCA460782090ANK1c.5304A>G (p.Gln1768=)
c.5400A>G (p.Gln1800=)
c.5217A>G (p.Gln1739=)
c.5181A>G (p.Gln1727=)
c.1195A>G
c.753A>G
c.2659A>G
n.2575A>G
c.4695A>G (p.Gln1565=)
c.5445A>G (p.Gln1815=)
c.5346A>G (p.Gln1782=)
c.5280A>G (p.Gln1760=)
c.5262A>G (p.Gln1754=)
c.4914A>G (p.Gln1638=)
c.4794A>G (p.Gln1598=)
c.5005A>G (p.Arg1669Gly)
n.5036A>G
c.5421A>G (p.Gln1807=)
c.5358A>G (p.Gln1786=)
c.5349A>G (p.Gln1783=)
c.4959A>G (p.Gln1653=)
c.4818A>G (p.Gln1606=)
c.5250A>G (p.Gln1750=)
8g.41668480T>GCA371051763ANK1c.5304A>C (p.Gln1768His)
c.5400A>C (p.Gln1800His)
c.5217A>C (p.Gln1739His)
c.5181A>C (p.Gln1727His)
c.1195A>C
c.753A>C
c.2659A>C
n.2575A>C
c.4695A>C (p.Gln1565His)
c.5445A>C (p.Gln1815His)
c.5346A>C (p.Gln1782His)
c.5280A>C (p.Gln1760His)
c.5262A>C (p.Gln1754His)
c.4914A>C (p.Gln1638His)
c.4794A>C (p.Gln1598His)
c.5005A>C (p.Arg1669=)
n.5036A>C
c.5421A>C (p.Gln1807His)
c.5358A>C (p.Gln1786His)
c.5349A>C (p.Gln1783His)
c.4959A>C (p.Gln1653His)
c.4818A>C (p.Gln1606His)
c.5250A>C (p.Gln1750His)
8g.41668481T>ACA371051767ANK1c.5303A>T (p.Gln1768Leu)
c.5399A>T (p.Gln1800Leu)
c.5216A>T (p.Gln1739Leu)
c.5180A>T (p.Gln1727Leu)
c.1194A>T
c.752A>T
c.2658A>T
n.2574A>T
c.4694A>T (p.Gln1565Leu)
c.5444A>T (p.Gln1815Leu)
c.5345A>T (p.Gln1782Leu)
c.5279A>T (p.Gln1760Leu)
c.5261A>T (p.Gln1754Leu)
c.4913A>T (p.Gln1638Leu)
c.4793A>T (p.Gln1598Leu)
c.5004A>T (p.Ala1668=)
n.5035A>T
c.5420A>T (p.Gln1807Leu)
c.5357A>T (p.Gln1786Leu)
c.5348A>T (p.Gln1783Leu)
c.4958A>T (p.Gln1653Leu)
c.4817A>T (p.Gln1606Leu)
c.5249A>T (p.Gln1750Leu)
8g.41668481T>CCA371051769ANK1c.5303A>G (p.Gln1768Arg)
c.5399A>G (p.Gln1800Arg)
c.5216A>G (p.Gln1739Arg)
c.5180A>G (p.Gln1727Arg)
c.1194A>G
c.752A>G
c.2658A>G
n.2574A>G
c.4694A>G (p.Gln1565Arg)
c.5444A>G (p.Gln1815Arg)
c.5345A>G (p.Gln1782Arg)
c.5279A>G (p.Gln1760Arg)
c.5261A>G (p.Gln1754Arg)
c.4913A>G (p.Gln1638Arg)
c.4793A>G (p.Gln1598Arg)
c.5004A>G (p.Ala1668=)
n.5035A>G
c.5420A>G (p.Gln1807Arg)
c.5357A>G (p.Gln1786Arg)
c.5348A>G (p.Gln1783Arg)
c.4958A>G (p.Gln1653Arg)
c.4817A>G (p.Gln1606Arg)
c.5249A>G (p.Gln1750Arg)
8g.41668481T>GCA371051765ANK1c.5303A>C (p.Gln1768Pro)
c.5399A>C (p.Gln1800Pro)
c.5216A>C (p.Gln1739Pro)
c.5180A>C (p.Gln1727Pro)
c.1194A>C
c.752A>C
c.2658A>C
n.2574A>C
c.4694A>C (p.Gln1565Pro)
c.5444A>C (p.Gln1815Pro)
c.5345A>C (p.Gln1782Pro)
c.5279A>C (p.Gln1760Pro)
c.5261A>C (p.Gln1754Pro)
c.4913A>C (p.Gln1638Pro)
c.4793A>C (p.Gln1598Pro)
c.5004A>C (p.Ala1668=)
n.5035A>C
c.5420A>C (p.Gln1807Pro)
c.5357A>C (p.Gln1786Pro)
c.5348A>C (p.Gln1783Pro)
c.4958A>C (p.Gln1653Pro)
c.4817A>C (p.Gln1606Pro)
c.5249A>C (p.Gln1750Pro)
8g.41668482G>ACA371051771ANK1c.5302C>T (p.Gln1768Ter)
c.5398C>T (p.Gln1800Ter)
c.5215C>T (p.Gln1739Ter)
c.5179C>T (p.Gln1727Ter)
c.1193C>T
c.751C>T
c.2657C>T
n.2573C>T
c.4693C>T (p.Gln1565Ter)
c.5443C>T (p.Gln1815Ter)
c.5344C>T (p.Gln1782Ter)
c.5278C>T (p.Gln1760Ter)
c.5260C>T (p.Gln1754Ter)
c.4912C>T (p.Gln1638Ter)
c.4792C>T (p.Gln1598Ter)
c.5003C>T (p.Ala1668Val)
n.5034C>T
c.5419C>T (p.Gln1807Ter)
c.5356C>T (p.Gln1786Ter)
c.5347C>T (p.Gln1783Ter)
c.4957C>T (p.Gln1653Ter)
c.4816C>T (p.Gln1606Ter)
c.5248C>T (p.Gln1750Ter)
 dbSNP gnomAD v3 gnomAD v4
8g.41668482G>CCA371051773ANK1c.5302C>G (p.Gln1768Glu)
c.5398C>G (p.Gln1800Glu)
c.5215C>G (p.Gln1739Glu)
c.5179C>G (p.Gln1727Glu)
c.1193C>G
c.751C>G
c.2657C>G
n.2573C>G
c.4693C>G (p.Gln1565Glu)
c.5443C>G (p.Gln1815Glu)
c.5344C>G (p.Gln1782Glu)
c.5278C>G (p.Gln1760Glu)
c.5260C>G (p.Gln1754Glu)
c.4912C>G (p.Gln1638Glu)
c.4792C>G (p.Gln1598Glu)
c.5003C>G (p.Ala1668Gly)
n.5034C>G
c.5419C>G (p.Gln1807Glu)
c.5356C>G (p.Gln1786Glu)
c.5347C>G (p.Gln1783Glu)
c.4957C>G (p.Gln1653Glu)
c.4816C>G (p.Gln1606Glu)
c.5248C>G (p.Gln1750Glu)
8g.41668482G=CA1779071277ANK1c.5302C= (p.Gln1768=)
c.5398C= (p.Gln1800=)
c.5215C= (p.Gln1739=)
c.5179C= (p.Gln1727=)
c.1193C=
c.751C=
c.2657C=
n.2573C=
c.4693C= (p.Gln1565=)
c.5443C= (p.Gln1815=)
c.5344C= (p.Gln1782=)
c.5278C= (p.Gln1760=)
c.5260C= (p.Gln1754=)
c.4912C= (p.Gln1638=)
c.4792C= (p.Gln1598=)
c.5003C= (p.Ala1668=)
n.5034C=
c.5419C= (p.Gln1807=)
c.5356C= (p.Gln1786=)
c.5347C= (p.Gln1783=)
c.4957C= (p.Gln1653=)
c.4816C= (p.Gln1606=)
c.5248C= (p.Gln1750=)
8g.41668482G>TCA371051774ANK1c.5302C>A (p.Gln1768Lys)
c.5398C>A (p.Gln1800Lys)
c.5215C>A (p.Gln1739Lys)
c.5179C>A (p.Gln1727Lys)
c.1193C>A
c.751C>A
c.2657C>A
n.2573C>A
c.4693C>A (p.Gln1565Lys)
c.5443C>A (p.Gln1815Lys)
c.5344C>A (p.Gln1782Lys)
c.5278C>A (p.Gln1760Lys)
c.5260C>A (p.Gln1754Lys)
c.4912C>A (p.Gln1638Lys)
c.4792C>A (p.Gln1598Lys)
c.5003C>A (p.Ala1668Glu)
n.5034C>A
c.5419C>A (p.Gln1807Lys)
c.5356C>A (p.Gln1786Lys)
c.5347C>A (p.Gln1783Lys)
c.4957C>A (p.Gln1653Lys)
c.4816C>A (p.Gln1606Lys)
c.5248C>A (p.Gln1750Lys)
 ClinVar dbSNP gnomAD v4
8g.41668483C>ACA4727353ANK1c.5301G>T (p.Thr1767=)
c.5397G>T (p.Thr1799=)
c.5214G>T (p.Thr1738=)
c.5178G>T (p.Thr1726=)
c.1192G>T
c.750G>T
c.2656G>T
n.2572G>T
c.4692G>T (p.Thr1564=)
c.5442G>T (p.Thr1814=)
c.5343G>T (p.Thr1781=)
c.5277G>T (p.Thr1759=)
c.5259G>T (p.Thr1753=)
c.4911G>T (p.Thr1637=)
c.4791G>T (p.Thr1597=)
c.5002G>T (p.Ala1668Ser)
n.5033G>T
c.5418G>T (p.Thr1806=)
c.5355G>T (p.Thr1785=)
c.5346G>T (p.Thr1782=)
c.4956G>T (p.Thr1652=)
c.4815G>T (p.Thr1605=)
c.5247G>T (p.Thr1749=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41668483C=CA1779071285ANK1c.5301G= (p.Thr1767=)
c.5397G= (p.Thr1799=)
c.5214G= (p.Thr1738=)
c.5178G= (p.Thr1726=)
c.1192G=
c.750G=
c.2656G=
n.2572G=
c.4692G= (p.Thr1564=)
c.5442G= (p.Thr1814=)
c.5343G= (p.Thr1781=)
c.5277G= (p.Thr1759=)
c.5259G= (p.Thr1753=)
c.4911G= (p.Thr1637=)
c.4791G= (p.Thr1597=)
c.5002G= (p.Ala1668=)
n.5033G=
c.5418G= (p.Thr1806=)
c.5355G= (p.Thr1785=)
c.5346G= (p.Thr1782=)
c.4956G= (p.Thr1652=)
c.4815G= (p.Thr1605=)
c.5247G= (p.Thr1749=)
8g.41668483C>GCA460782091ANK1c.5301G>C (p.Thr1767=)
c.5397G>C (p.Thr1799=)
c.5214G>C (p.Thr1738=)
c.5178G>C (p.Thr1726=)
c.1192G>C
c.750G>C
c.2656G>C
n.2572G>C
c.4692G>C (p.Thr1564=)
c.5442G>C (p.Thr1814=)
c.5343G>C (p.Thr1781=)
c.5277G>C (p.Thr1759=)
c.5259G>C (p.Thr1753=)
c.4911G>C (p.Thr1637=)
c.4791G>C (p.Thr1597=)
c.5002G>C (p.Ala1668Pro)
n.5033G>C
c.5418G>C (p.Thr1806=)
c.5355G>C (p.Thr1785=)
c.5346G>C (p.Thr1782=)
c.4956G>C (p.Thr1652=)
c.4815G>C (p.Thr1605=)
c.5247G>C (p.Thr1749=)
8g.41668483C>TCA4727354ANK1c.5301G>A (p.Thr1767=)
c.5397G>A (p.Thr1799=)
c.5214G>A (p.Thr1738=)
c.5178G>A (p.Thr1726=)
c.1192G>A
c.750G>A
c.2656G>A
n.2572G>A
c.4692G>A (p.Thr1564=)
c.5442G>A (p.Thr1814=)
c.5343G>A (p.Thr1781=)
c.5277G>A (p.Thr1759=)
c.5259G>A (p.Thr1753=)
c.4911G>A (p.Thr1637=)
c.4791G>A (p.Thr1597=)
c.5002G>A (p.Ala1668Thr)
n.5033G>A
c.5418G>A (p.Thr1806=)
c.5355G>A (p.Thr1785=)
c.5346G>A (p.Thr1782=)
c.4956G>A (p.Thr1652=)
c.4815G>A (p.Thr1605=)
c.5247G>A (p.Thr1749=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.41668484G>ACA4727355ANK1c.5300C>T (p.Thr1767Met)
c.5396C>T (p.Thr1799Met)
c.5213C>T (p.Thr1738Met)
c.5177C>T (p.Thr1726Met)
c.1191C>T
c.749C>T
c.2655C>T
n.2571C>T
c.4691C>T (p.Thr1564Met)
c.5441C>T (p.Thr1814Met)
c.5342C>T (p.Thr1781Met)
c.5276C>T (p.Thr1759Met)
c.5258C>T (p.Thr1753Met)
c.4910C>T (p.Thr1637Met)
c.4790C>T (p.Thr1597Met)
c.5001C>T (p.His1667=)
n.5032C>T
c.5417C>T (p.Thr1806Met)
c.5354C>T (p.Thr1785Met)
c.5345C>T (p.Thr1782Met)
c.4955C>T (p.Thr1652Met)
c.4814C>T (p.Thr1605Met)
c.5246C>T (p.Thr1749Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.41668484G>CCA175914367ANK1c.5300C>G (p.Thr1767Arg)
c.5396C>G (p.Thr1799Arg)
c.5213C>G (p.Thr1738Arg)
c.5177C>G (p.Thr1726Arg)
c.1191C>G
c.749C>G
c.2655C>G
n.2571C>G
c.4691C>G (p.Thr1564Arg)
c.5441C>G (p.Thr1814Arg)
c.5342C>G (p.Thr1781Arg)
c.5276C>G (p.Thr1759Arg)
c.5258C>G (p.Thr1753Arg)
c.4910C>G (p.Thr1637Arg)
c.4790C>G (p.Thr1597Arg)
c.5001C>G (p.His1667Gln)
n.5032C>G
c.5417C>G (p.Thr1806Arg)
c.5354C>G (p.Thr1785Arg)
c.5345C>G (p.Thr1782Arg)
c.4955C>G (p.Thr1652Arg)
c.4814C>G (p.Thr1605Arg)
c.5246C>G (p.Thr1749Arg)
 dbSNP gnomAD v2 gnomAD v4
8g.41668484G=CA1779071291ANK1c.5300C= (p.Thr1767=)
c.5396C= (p.Thr1799=)
c.5213C= (p.Thr1738=)
c.5177C= (p.Thr1726=)
c.1191C=
c.749C=
c.2655C=
n.2571C=
c.4691C= (p.Thr1564=)
c.5441C= (p.Thr1814=)
c.5342C= (p.Thr1781=)
c.5276C= (p.Thr1759=)
c.5258C= (p.Thr1753=)
c.4910C= (p.Thr1637=)
c.4790C= (p.Thr1597=)
c.5001C= (p.His1667=)
n.5032C=
c.5417C= (p.Thr1806=)
c.5354C= (p.Thr1785=)
c.5345C= (p.Thr1782=)
c.4955C= (p.Thr1652=)
c.4814C= (p.Thr1605=)
c.5246C= (p.Thr1749=)
8g.41668484G>TCA371051781ANK1c.5300C>A (p.Thr1767Lys)
c.5396C>A (p.Thr1799Lys)
c.5213C>A (p.Thr1738Lys)
c.5177C>A (p.Thr1726Lys)
c.1191C>A
c.749C>A
c.2655C>A
n.2571C>A
c.4691C>A (p.Thr1564Lys)
c.5441C>A (p.Thr1814Lys)
c.5342C>A (p.Thr1781Lys)
c.5276C>A (p.Thr1759Lys)
c.5258C>A (p.Thr1753Lys)
c.4910C>A (p.Thr1637Lys)
c.4790C>A (p.Thr1597Lys)
c.5001C>A (p.His1667Gln)
n.5032C>A
c.5417C>A (p.Thr1806Lys)
c.5354C>A (p.Thr1785Lys)
c.5345C>A (p.Thr1782Lys)
c.4955C>A (p.Thr1652Lys)
c.4814C>A (p.Thr1605Lys)
c.5246C>A (p.Thr1749Lys)
8g.41668485T>ACA371051787ANK1c.5299A>T (p.Thr1767Ser)
c.5395A>T (p.Thr1799Ser)
c.5212A>T (p.Thr1738Ser)
c.5176A>T (p.Thr1726Ser)
c.1190A>T
c.748A>T
c.2654A>T
n.2570A>T
c.4690A>T (p.Thr1564Ser)
c.5440A>T (p.Thr1814Ser)
c.5341A>T (p.Thr1781Ser)
c.5275A>T (p.Thr1759Ser)
c.5257A>T (p.Thr1753Ser)
c.4909A>T (p.Thr1637Ser)
c.4789A>T (p.Thr1597Ser)
c.5000A>T (p.His1667Leu)
n.5031A>T
c.5416A>T (p.Thr1806Ser)
c.5353A>T (p.Thr1785Ser)
c.5344A>T (p.Thr1782Ser)
c.4954A>T (p.Thr1652Ser)
c.4813A>T (p.Thr1605Ser)
c.5245A>T (p.Thr1749Ser)
8g.41668485T>CCA371051790ANK1c.5299A>G (p.Thr1767Ala)
c.5395A>G (p.Thr1799Ala)
c.5212A>G (p.Thr1738Ala)
c.5176A>G (p.Thr1726Ala)
c.1190A>G
c.748A>G
c.2654A>G
n.2570A>G
c.4690A>G (p.Thr1564Ala)
c.5440A>G (p.Thr1814Ala)
c.5341A>G (p.Thr1781Ala)
c.5275A>G (p.Thr1759Ala)
c.5257A>G (p.Thr1753Ala)
c.4909A>G (p.Thr1637Ala)
c.4789A>G (p.Thr1597Ala)
c.5000A>G (p.His1667Arg)
n.5031A>G
c.5416A>G (p.Thr1806Ala)
c.5353A>G (p.Thr1785Ala)
c.5344A>G (p.Thr1782Ala)
c.4954A>G (p.Thr1652Ala)
c.4813A>G (p.Thr1605Ala)
c.5245A>G (p.Thr1749Ala)
8g.41668485T>GCA371051793ANK1c.5299A>C (p.Thr1767Pro)
c.5395A>C (p.Thr1799Pro)
c.5212A>C (p.Thr1738Pro)
c.5176A>C (p.Thr1726Pro)
c.1190A>C
c.748A>C
c.2654A>C
n.2570A>C
c.4690A>C (p.Thr1564Pro)
c.5440A>C (p.Thr1814Pro)
c.5341A>C (p.Thr1781Pro)
c.5275A>C (p.Thr1759Pro)
c.5257A>C (p.Thr1753Pro)
c.4909A>C (p.Thr1637Pro)
c.4789A>C (p.Thr1597Pro)
c.5000A>C (p.His1667Pro)
n.5031A>C
c.5416A>C (p.Thr1806Pro)
c.5353A>C (p.Thr1785Pro)
c.5344A>C (p.Thr1782Pro)
c.4954A>C (p.Thr1652Pro)
c.4813A>C (p.Thr1605Pro)
c.5245A>C (p.Thr1749Pro)
8g.41668486G>ACA460782092ANK1c.5298C>T (p.Val1766=)
c.5394C>T (p.Val1798=)
c.5211C>T (p.Val1737=)
c.5175C>T (p.Val1725=)
c.1189C>T
c.747C>T
c.2653C>T
n.2569C>T
c.4689C>T (p.Val1563=)
c.5439C>T (p.Val1813=)
c.5340C>T (p.Val1780=)
c.5274C>T (p.Val1758=)
c.5256C>T (p.Val1752=)
c.4908C>T (p.Val1636=)
c.4788C>T (p.Val1596=)
c.4999C>T (p.His1667Tyr)
n.5030C>T
c.5415C>T (p.Val1805=)
c.5352C>T (p.Val1784=)
c.5343C>T (p.Val1781=)
c.4953C>T (p.Val1651=)
c.4812C>T (p.Val1604=)
c.5244C>T (p.Val1748=)
8g.41668486G>CCA460782093ANK1c.5298C>G (p.Val1766=)
c.5394C>G (p.Val1798=)
c.5211C>G (p.Val1737=)
c.5175C>G (p.Val1725=)
c.1189C>G
c.747C>G
c.2653C>G
n.2569C>G
c.4689C>G (p.Val1563=)
c.5439C>G (p.Val1813=)
c.5340C>G (p.Val1780=)
c.5274C>G (p.Val1758=)
c.5256C>G (p.Val1752=)
c.4908C>G (p.Val1636=)
c.4788C>G (p.Val1596=)
c.4999C>G (p.His1667Asp)
n.5030C>G
c.5415C>G (p.Val1805=)
c.5352C>G (p.Val1784=)
c.5343C>G (p.Val1781=)
c.4953C>G (p.Val1651=)
c.4812C>G (p.Val1604=)
c.5244C>G (p.Val1748=)
8g.41668486G>TCA460782094ANK1c.5298C>A (p.Val1766=)
c.5394C>A (p.Val1798=)
c.5211C>A (p.Val1737=)
c.5175C>A (p.Val1725=)
c.1189C>A
c.747C>A
c.2653C>A
n.2569C>A
c.4689C>A (p.Val1563=)
c.5439C>A (p.Val1813=)
c.5340C>A (p.Val1780=)
c.5274C>A (p.Val1758=)
c.5256C>A (p.Val1752=)
c.4908C>A (p.Val1636=)
c.4788C>A (p.Val1596=)
c.4999C>A (p.His1667Asn)
n.5030C>A
c.5415C>A (p.Val1805=)
c.5352C>A (p.Val1784=)
c.5343C>A (p.Val1781=)
c.4953C>A (p.Val1651=)
c.4812C>A (p.Val1604=)
c.5244C>A (p.Val1748=)
8g.41668487A>CCA371051797ANK1c.5297T>G (p.Val1766Gly)
c.5393T>G (p.Val1798Gly)
c.5210T>G (p.Val1737Gly)
c.5174T>G (p.Val1725Gly)
c.1188T>G
c.746T>G
c.2652T>G
n.2568T>G
c.4688T>G (p.Val1563Gly)
c.5438T>G (p.Val1813Gly)
c.5339T>G (p.Val1780Gly)
c.5273T>G (p.Val1758Gly)
c.5255T>G (p.Val1752Gly)
c.4907T>G (p.Val1636Gly)
c.4787T>G (p.Val1596Gly)
c.4998T>G (p.Gly1666=)
n.5029T>G
c.5414T>G (p.Val1805Gly)
c.5351T>G (p.Val1784Gly)
c.5342T>G (p.Val1781Gly)
c.4952T>G (p.Val1651Gly)
c.4811T>G (p.Val1604Gly)
c.5243T>G (p.Val1748Gly)
8g.41668487A>GCA371051799ANK1c.5297T>C (p.Val1766Ala)
c.5393T>C (p.Val1798Ala)
c.5210T>C (p.Val1737Ala)
c.5174T>C (p.Val1725Ala)
c.1188T>C
c.746T>C
c.2652T>C
n.2568T>C
c.4688T>C (p.Val1563Ala)
c.5438T>C (p.Val1813Ala)
c.5339T>C (p.Val1780Ala)
c.5273T>C (p.Val1758Ala)
c.5255T>C (p.Val1752Ala)
c.4907T>C (p.Val1636Ala)
c.4787T>C (p.Val1596Ala)
c.4998T>C (p.Gly1666=)
n.5029T>C
c.5414T>C (p.Val1805Ala)
c.5351T>C (p.Val1784Ala)
c.5342T>C (p.Val1781Ala)
c.4952T>C (p.Val1651Ala)
c.4811T>C (p.Val1604Ala)
c.5243T>C (p.Val1748Ala)
8g.41668487A>TCA371051802ANK1c.5297T>A (p.Val1766Asp)
c.5393T>A (p.Val1798Asp)
c.5210T>A (p.Val1737Asp)
c.5174T>A (p.Val1725Asp)
c.1188T>A
c.746T>A
c.2652T>A
n.2568T>A
c.4688T>A (p.Val1563Asp)
c.5438T>A (p.Val1813Asp)
c.5339T>A (p.Val1780Asp)
c.5273T>A (p.Val1758Asp)
c.5255T>A (p.Val1752Asp)
c.4907T>A (p.Val1636Asp)
c.4787T>A (p.Val1596Asp)
c.4998T>A (p.Gly1666=)
n.5029T>A
c.5414T>A (p.Val1805Asp)
c.5351T>A (p.Val1784Asp)
c.5342T>A (p.Val1781Asp)
c.4952T>A (p.Val1651Asp)
c.4811T>A (p.Val1604Asp)
c.5243T>A (p.Val1748Asp)
8g.41668488C>ACA371051810ANK1c.5296G>T (p.Val1766Phe)
c.5392G>T (p.Val1798Phe)
c.5209G>T (p.Val1737Phe)
c.5173G>T (p.Val1725Phe)
c.1187G>T
c.745G>T
c.2651G>T
n.2567G>T
c.4687G>T (p.Val1563Phe)
c.5437G>T (p.Val1813Phe)
c.5338G>T (p.Val1780Phe)
c.5272G>T (p.Val1758Phe)
c.5254G>T (p.Val1752Phe)
c.4906G>T (p.Val1636Phe)
c.4786G>T (p.Val1596Phe)
c.4997G>T (p.Gly1666Val)
n.5028G>T
c.5413G>T (p.Val1805Phe)
c.5350G>T (p.Val1784Phe)
c.5341G>T (p.Val1781Phe)
c.4951G>T (p.Val1651Phe)
c.4810G>T (p.Val1604Phe)
c.5242G>T (p.Val1748Phe)
8g.41668488C>GCA371051812ANK1c.5296G>C (p.Val1766Leu)
c.5392G>C (p.Val1798Leu)
c.5209G>C (p.Val1737Leu)
c.5173G>C (p.Val1725Leu)
c.1187G>C
c.745G>C
c.2651G>C
n.2567G>C
c.4687G>C (p.Val1563Leu)
c.5437G>C (p.Val1813Leu)
c.5338G>C (p.Val1780Leu)
c.5272G>C (p.Val1758Leu)
c.5254G>C (p.Val1752Leu)
c.4906G>C (p.Val1636Leu)
c.4786G>C (p.Val1596Leu)
c.4997G>C (p.Gly1666Ala)
n.5028G>C
c.5413G>C (p.Val1805Leu)
c.5350G>C (p.Val1784Leu)
c.5341G>C (p.Val1781Leu)
c.4951G>C (p.Val1651Leu)
c.4810G>C (p.Val1604Leu)
c.5242G>C (p.Val1748Leu)
8g.41668488C>TCA371051807ANK1c.5296G>A (p.Val1766Ile)
c.5392G>A (p.Val1798Ile)
c.5209G>A (p.Val1737Ile)
c.5173G>A (p.Val1725Ile)
c.1187G>A
c.745G>A
c.2651G>A
n.2567G>A
c.4687G>A (p.Val1563Ile)
c.5437G>A (p.Val1813Ile)
c.5338G>A (p.Val1780Ile)
c.5272G>A (p.Val1758Ile)
c.5254G>A (p.Val1752Ile)
c.4906G>A (p.Val1636Ile)
c.4786G>A (p.Val1596Ile)
c.4997G>A (p.Gly1666Asp)
n.5028G>A
c.5413G>A (p.Val1805Ile)
c.5350G>A (p.Val1784Ile)
c.5341G>A (p.Val1781Ile)
c.4951G>A (p.Val1651Ile)
c.4810G>A (p.Val1604Ile)
c.5242G>A (p.Val1748Ile)
8g.41668489_41668499delCA2739290071ANK1c.5286_5296del (p.Trp1762CysfsTer16)
c.5382_5392del (p.Trp1794CysfsTer16)
c.5199_5209del (p.Trp1733CysfsTer16)
c.5163_5173del (p.Trp1721CysfsTer16)
c.1177_1187del
c.735_745del
c.2641_2651del
n.2557_2567del
c.4677_4687del (p.Trp1559CysfsTer16)
c.5427_5437del (p.Trp1809CysfsTer16)
c.5328_5338del (p.Trp1776CysfsTer16)
c.5262_5272del (p.Trp1754CysfsTer16)
c.5244_5254del (p.Trp1748CysfsTer16)
c.4896_4906del (p.Trp1632CysfsTer16)
c.4776_4786del (p.Trp1592CysfsTer16)
c.4987_4997del (p.Ala1663SerfsTer14)
n.5018_5028del
c.5403_5413del (p.Trp1801CysfsTer16)
c.5340_5350del (p.Trp1780CysfsTer16)
c.5331_5341del (p.Trp1777CysfsTer16)
c.4941_4951del (p.Trp1647CysfsTer16)
c.4800_4810del (p.Trp1600CysfsTer16)
c.5232_5242del (p.Trp1744CysfsTer16)
8g.41668489C>ACA371051815ANK1c.5295G>T (p.Glu1765Asp)
c.5391G>T (p.Glu1797Asp)
c.5208G>T (p.Glu1736Asp)
c.5172G>T (p.Glu1724Asp)
c.1186G>T
c.744G>T
c.2650G>T
n.2566G>T
c.4686G>T (p.Glu1562Asp)
c.5436G>T (p.Glu1812Asp)
c.5337G>T (p.Glu1779Asp)
c.5271G>T (p.Glu1757Asp)
c.5253G>T (p.Glu1751Asp)
c.4905G>T (p.Glu1635Asp)
c.4785G>T (p.Glu1595Asp)
c.4996G>T (p.Gly1666Cys)
n.5027G>T
c.5412G>T (p.Glu1804Asp)
c.5349G>T (p.Glu1783Asp)
c.5340G>T (p.Glu1780Asp)
c.4950G>T (p.Glu1650Asp)
c.4809G>T (p.Glu1603Asp)
c.5241G>T (p.Glu1747Asp)
8g.41668489C=CA1779071298ANK1c.5295G= (p.Glu1765=)
c.5391G= (p.Glu1797=)
c.5208G= (p.Glu1736=)
c.5172G= (p.Glu1724=)
c.1186G=
c.744G=
c.2650G=
n.2566G=
c.4686G= (p.Glu1562=)
c.5436G= (p.Glu1812=)
c.5337G= (p.Glu1779=)
c.5271G= (p.Glu1757=)
c.5253G= (p.Glu1751=)
c.4905G= (p.Glu1635=)
c.4785G= (p.Glu1595=)
c.4996G= (p.Gly1666=)
n.5027G=
c.5412G= (p.Glu1804=)
c.5349G= (p.Glu1783=)
c.5340G= (p.Glu1780=)
c.4950G= (p.Glu1650=)
c.4809G= (p.Glu1603=)
c.5241G= (p.Glu1747=)
8g.41668489C>GCA175914374ANK1c.5295G>C (p.Glu1765Asp)
c.5391G>C (p.Glu1797Asp)
c.5208G>C (p.Glu1736Asp)
c.5172G>C (p.Glu1724Asp)
c.1186G>C
c.744G>C
c.2650G>C
n.2566G>C
c.4686G>C (p.Glu1562Asp)
c.5436G>C (p.Glu1812Asp)
c.5337G>C (p.Glu1779Asp)
c.5271G>C (p.Glu1757Asp)
c.5253G>C (p.Glu1751Asp)
c.4905G>C (p.Glu1635Asp)
c.4785G>C (p.Glu1595Asp)
c.4996G>C (p.Gly1666Arg)
n.5027G>C
c.5412G>C (p.Glu1804Asp)
c.5349G>C (p.Glu1783Asp)
c.5340G>C (p.Glu1780Asp)
c.4950G>C (p.Glu1650Asp)
c.4809G>C (p.Glu1603Asp)
c.5241G>C (p.Glu1747Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.41668489C>TCA460782095ANK1c.5295G>A (p.Glu1765=)
c.5391G>A (p.Glu1797=)
c.5208G>A (p.Glu1736=)
c.5172G>A (p.Glu1724=)
c.1186G>A
c.744G>A
c.2650G>A
n.2566G>A
c.4686G>A (p.Glu1562=)
c.5436G>A (p.Glu1812=)
c.5337G>A (p.Glu1779=)
c.5271G>A (p.Glu1757=)
c.5253G>A (p.Glu1751=)
c.4905G>A (p.Glu1635=)
c.4785G>A (p.Glu1595=)
c.4996G>A (p.Gly1666Ser)
n.5027G>A
c.5412G>A (p.Glu1804=)
c.5349G>A (p.Glu1783=)
c.5340G>A (p.Glu1780=)
c.4950G>A (p.Glu1650=)
c.4809G>A (p.Glu1603=)
c.5241G>A (p.Glu1747=)
8g.41668490T>ACA371051821ANK1c.5294A>T (p.Glu1765Val)
c.5390A>T (p.Glu1797Val)
c.5207A>T (p.Glu1736Val)
c.5171A>T (p.Glu1724Val)
c.1185A>T
c.743A>T
c.2649A>T
n.2565A>T
c.4685A>T (p.Glu1562Val)
c.5435A>T (p.Glu1812Val)
c.5336A>T (p.Glu1779Val)
c.5270A>T (p.Glu1757Val)
c.5252A>T (p.Glu1751Val)
c.4904A>T (p.Glu1635Val)
c.4784A>T (p.Glu1595Val)
c.4995A>T (p.Gly1665=)
n.5026A>T
c.5411A>T (p.Glu1804Val)
c.5348A>T (p.Glu1783Val)
c.5339A>T (p.Glu1780Val)
c.4949A>T (p.Glu1650Val)
c.4808A>T (p.Glu1603Val)
c.5240A>T (p.Glu1747Val)
8g.41668490T>CCA371051823ANK1c.5294A>G (p.Glu1765Gly)
c.5390A>G (p.Glu1797Gly)
c.5207A>G (p.Glu1736Gly)
c.5171A>G (p.Glu1724Gly)
c.1185A>G
c.743A>G
c.2649A>G
n.2565A>G
c.4685A>G (p.Glu1562Gly)
c.5435A>G (p.Glu1812Gly)
c.5336A>G (p.Glu1779Gly)
c.5270A>G (p.Glu1757Gly)
c.5252A>G (p.Glu1751Gly)
c.4904A>G (p.Glu1635Gly)
c.4784A>G (p.Glu1595Gly)
c.4995A>G (p.Gly1665=)
n.5026A>G
c.5411A>G (p.Glu1804Gly)
c.5348A>G (p.Glu1783Gly)
c.5339A>G (p.Glu1780Gly)
c.4949A>G (p.Glu1650Gly)
c.4808A>G (p.Glu1603Gly)
c.5240A>G (p.Glu1747Gly)
8g.41668490T>GCA371051827ANK1c.5294A>C (p.Glu1765Ala)
c.5390A>C (p.Glu1797Ala)
c.5207A>C (p.Glu1736Ala)
c.5171A>C (p.Glu1724Ala)
c.1185A>C
c.743A>C
c.2649A>C
n.2565A>C
c.4685A>C (p.Glu1562Ala)
c.5435A>C (p.Glu1812Ala)
c.5336A>C (p.Glu1779Ala)
c.5270A>C (p.Glu1757Ala)
c.5252A>C (p.Glu1751Ala)
c.4904A>C (p.Glu1635Ala)
c.4784A>C (p.Glu1595Ala)
c.4995A>C (p.Gly1665=)
n.5026A>C
c.5411A>C (p.Glu1804Ala)
c.5348A>C (p.Glu1783Ala)
c.5339A>C (p.Glu1780Ala)
c.4949A>C (p.Glu1650Ala)
c.4808A>C (p.Glu1603Ala)
c.5240A>C (p.Glu1747Ala)
8g.41668491C>ACA371051833ANK1c.5293G>T (p.Glu1765Ter)
c.5389G>T (p.Glu1797Ter)
c.5206G>T (p.Glu1736Ter)
c.5170G>T (p.Glu1724Ter)
c.1184G>T
c.742G>T
c.2648G>T
n.2564G>T
c.4684G>T (p.Glu1562Ter)
c.5434G>T (p.Glu1812Ter)
c.5335G>T (p.Glu1779Ter)
c.5269G>T (p.Glu1757Ter)
c.5251G>T (p.Glu1751Ter)
c.4903G>T (p.Glu1635Ter)
c.4783G>T (p.Glu1595Ter)
c.4994G>T (p.Gly1665Val)
n.5025G>T
c.5410G>T (p.Glu1804Ter)
c.5347G>T (p.Glu1783Ter)
c.5338G>T (p.Glu1780Ter)
c.4948G>T (p.Glu1650Ter)
c.4807G>T (p.Glu1603Ter)
c.5239G>T (p.Glu1747Ter)
8g.41668491C>GCA371051835ANK1c.5293G>C (p.Glu1765Gln)
c.5389G>C (p.Glu1797Gln)
c.5206G>C (p.Glu1736Gln)
c.5170G>C (p.Glu1724Gln)
c.1184G>C
c.742G>C
c.2648G>C
n.2564G>C
c.4684G>C (p.Glu1562Gln)
c.5434G>C (p.Glu1812Gln)
c.5335G>C (p.Glu1779Gln)
c.5269G>C (p.Glu1757Gln)
c.5251G>C (p.Glu1751Gln)
c.4903G>C (p.Glu1635Gln)
c.4783G>C (p.Glu1595Gln)
c.4994G>C (p.Gly1665Ala)
n.5025G>C
c.5410G>C (p.Glu1804Gln)
c.5347G>C (p.Glu1783Gln)
c.5338G>C (p.Glu1780Gln)
c.4948G>C (p.Glu1650Gln)
c.4807G>C (p.Glu1603Gln)
c.5239G>C (p.Glu1747Gln)
8g.41668491C>TCA371051838ANK1c.5293G>A (p.Glu1765Lys)
c.5389G>A (p.Glu1797Lys)
c.5206G>A (p.Glu1736Lys)
c.5170G>A (p.Glu1724Lys)
c.1184G>A
c.742G>A
c.2648G>A
n.2564G>A
c.4684G>A (p.Glu1562Lys)
c.5434G>A (p.Glu1812Lys)
c.5335G>A (p.Glu1779Lys)
c.5269G>A (p.Glu1757Lys)
c.5251G>A (p.Glu1751Lys)
c.4903G>A (p.Glu1635Lys)
c.4783G>A (p.Glu1595Lys)
c.4994G>A (p.Gly1665Glu)
n.5025G>A
c.5410G>A (p.Glu1804Lys)
c.5347G>A (p.Glu1783Lys)
c.5338G>A (p.Glu1780Lys)
c.4948G>A (p.Glu1650Lys)
c.4807G>A (p.Glu1603Lys)
c.5239G>A (p.Glu1747Lys)
8g.41668492C>ACA371051842ANK1c.5292G>T (p.Glu1764Asp)
c.5388G>T (p.Glu1796Asp)
c.5205G>T (p.Glu1735Asp)
c.5169G>T (p.Glu1723Asp)
c.1183G>T
c.741G>T
c.2647G>T
n.2563G>T
c.4683G>T (p.Glu1561Asp)
c.5433G>T (p.Glu1811Asp)
c.5334G>T (p.Glu1778Asp)
c.5268G>T (p.Glu1756Asp)
c.5250G>T (p.Glu1750Asp)
c.4902G>T (p.Glu1634Asp)
c.4782G>T (p.Glu1594Asp)
c.4993G>T (p.Gly1665Ter)
n.5024G>T
c.5409G>T (p.Glu1803Asp)
c.5346G>T (p.Glu1782Asp)
c.5337G>T (p.Glu1779Asp)
c.4947G>T (p.Glu1649Asp)
c.4806G>T (p.Glu1602Asp)
c.5238G>T (p.Glu1746Asp)
8g.41668492C>GCA371051844ANK1c.5292G>C (p.Glu1764Asp)
c.5388G>C (p.Glu1796Asp)
c.5205G>C (p.Glu1735Asp)
c.5169G>C (p.Glu1723Asp)
c.1183G>C
c.741G>C
c.2647G>C
n.2563G>C
c.4683G>C (p.Glu1561Asp)
c.5433G>C (p.Glu1811Asp)
c.5334G>C (p.Glu1778Asp)
c.5268G>C (p.Glu1756Asp)
c.5250G>C (p.Glu1750Asp)
c.4902G>C (p.Glu1634Asp)
c.4782G>C (p.Glu1594Asp)
c.4993G>C (p.Gly1665Arg)
n.5024G>C
c.5409G>C (p.Glu1803Asp)
c.5346G>C (p.Glu1782Asp)
c.5337G>C (p.Glu1779Asp)
c.4947G>C (p.Glu1649Asp)
c.4806G>C (p.Glu1602Asp)
c.5238G>C (p.Glu1746Asp)
8g.41668492C>TCA460782096ANK1c.5292G>A (p.Glu1764=)
c.5388G>A (p.Glu1796=)
c.5205G>A (p.Glu1735=)
c.5169G>A (p.Glu1723=)
c.1183G>A
c.741G>A
c.2647G>A
n.2563G>A
c.4683G>A (p.Glu1561=)
c.5433G>A (p.Glu1811=)
c.5334G>A (p.Glu1778=)
c.5268G>A (p.Glu1756=)
c.5250G>A (p.Glu1750=)
c.4902G>A (p.Glu1634=)
c.4782G>A (p.Glu1594=)
c.4993G>A (p.Gly1665Arg)
n.5024G>A
c.5409G>A (p.Glu1803=)
c.5346G>A (p.Glu1782=)
c.5337G>A (p.Glu1779=)
c.4947G>A (p.Glu1649=)
c.4806G>A (p.Glu1602=)
c.5238G>A (p.Glu1746=)
 gnomAD v4
8g.41668493T>ACA371051849ANK1c.5291A>T (p.Glu1764Val)
c.5387A>T (p.Glu1796Val)
c.5204A>T (p.Glu1735Val)
c.5168A>T (p.Glu1723Val)
c.1182A>T
c.740A>T
c.2646A>T
n.2562A>T
c.4682A>T (p.Glu1561Val)
c.5432A>T (p.Glu1811Val)
c.5333A>T (p.Glu1778Val)
c.5267A>T (p.Glu1756Val)
c.5249A>T (p.Glu1750Val)
c.4901A>T (p.Glu1634Val)
c.4781A>T (p.Glu1594Val)
c.4992A>T (p.Arg1664Ser)
n.5023A>T
c.5408A>T (p.Glu1803Val)
c.5345A>T (p.Glu1782Val)
c.5336A>T (p.Glu1779Val)
c.4946A>T (p.Glu1649Val)
c.4805A>T (p.Glu1602Val)
c.5237A>T (p.Glu1746Val)
8g.41668493T>CCA371051852ANK1c.5291A>G (p.Glu1764Gly)
c.5387A>G (p.Glu1796Gly)
c.5204A>G (p.Glu1735Gly)
c.5168A>G (p.Glu1723Gly)
c.1182A>G
c.740A>G
c.2646A>G
n.2562A>G
c.4682A>G (p.Glu1561Gly)
c.5432A>G (p.Glu1811Gly)
c.5333A>G (p.Glu1778Gly)
c.5267A>G (p.Glu1756Gly)
c.5249A>G (p.Glu1750Gly)
c.4901A>G (p.Glu1634Gly)
c.4781A>G (p.Glu1594Gly)
c.4992A>G (p.Arg1664=)
n.5023A>G
c.5408A>G (p.Glu1803Gly)
c.5345A>G (p.Glu1782Gly)
c.5336A>G (p.Glu1779Gly)
c.4946A>G (p.Glu1649Gly)
c.4805A>G (p.Glu1602Gly)
c.5237A>G (p.Glu1746Gly)
 dbSNP gnomAD v3 gnomAD v4
8g.41668493T>GCA371051854ANK1c.5291A>C (p.Glu1764Ala)
c.5387A>C (p.Glu1796Ala)
c.5204A>C (p.Glu1735Ala)
c.5168A>C (p.Glu1723Ala)
c.1182A>C
c.740A>C
c.2646A>C
n.2562A>C
c.4682A>C (p.Glu1561Ala)
c.5432A>C (p.Glu1811Ala)
c.5333A>C (p.Glu1778Ala)
c.5267A>C (p.Glu1756Ala)
c.5249A>C (p.Glu1750Ala)
c.4901A>C (p.Glu1634Ala)
c.4781A>C (p.Glu1594Ala)
c.4992A>C (p.Arg1664Ser)
n.5023A>C
c.5408A>C (p.Glu1803Ala)
c.5345A>C (p.Glu1782Ala)
c.5336A>C (p.Glu1779Ala)
c.4946A>C (p.Glu1649Ala)
c.4805A>C (p.Glu1602Ala)
c.5237A>C (p.Glu1746Ala)
8g.41668493T=CA1779071302ANK1c.5291A= (p.Glu1764=)
c.5387A= (p.Glu1796=)
c.5204A= (p.Glu1735=)
c.5168A= (p.Glu1723=)
c.1182A=
c.740A=
c.2646A=
n.2562A=
c.4682A= (p.Glu1561=)
c.5432A= (p.Glu1811=)
c.5333A= (p.Glu1778=)
c.5267A= (p.Glu1756=)
c.5249A= (p.Glu1750=)
c.4901A= (p.Glu1634=)
c.4781A= (p.Glu1594=)
c.4992A= (p.Arg1664=)
n.5023A=
c.5408A= (p.Glu1803=)
c.5345A= (p.Glu1782=)
c.5336A= (p.Glu1779=)
c.4946A= (p.Glu1649=)
c.4805A= (p.Glu1602=)
c.5237A= (p.Glu1746=)
8g.41668494C>ACA371051858ANK1c.5290G>T (p.Glu1764Ter)
c.5386G>T (p.Glu1796Ter)
c.5203G>T (p.Glu1735Ter)
c.5167G>T (p.Glu1723Ter)
c.1181G>T
c.739G>T
c.2645G>T
n.2561G>T
c.4681G>T (p.Glu1561Ter)
c.5431G>T (p.Glu1811Ter)
c.5332G>T (p.Glu1778Ter)
c.5266G>T (p.Glu1756Ter)
c.5248G>T (p.Glu1750Ter)
c.4900G>T (p.Glu1634Ter)
c.4780G>T (p.Glu1594Ter)
c.4991G>T (p.Arg1664Ile)
n.5022G>T
c.5407G>T (p.Glu1803Ter)
c.5344G>T (p.Glu1782Ter)
c.5335G>T (p.Glu1779Ter)
c.4945G>T (p.Glu1649Ter)
c.4804G>T (p.Glu1602Ter)
c.5236G>T (p.Glu1746Ter)
 ClinVar
8g.41668494C=CA1779071308ANK1c.5290G= (p.Glu1764=)
c.5386G= (p.Glu1796=)
c.5203G= (p.Glu1735=)
c.5167G= (p.Glu1723=)
c.1181G=
c.739G=
c.2645G=
n.2561G=
c.4681G= (p.Glu1561=)
c.5431G= (p.Glu1811=)
c.5332G= (p.Glu1778=)
c.5266G= (p.Glu1756=)
c.5248G= (p.Glu1750=)
c.4900G= (p.Glu1634=)
c.4780G= (p.Glu1594=)
c.4991G= (p.Arg1664=)
n.5022G=
c.5407G= (p.Glu1803=)
c.5344G= (p.Glu1782=)
c.5335G= (p.Glu1779=)
c.4945G= (p.Glu1649=)
c.4804G= (p.Glu1602=)
c.5236G= (p.Glu1746=)
8g.41668494C>GCA371051863ANK1c.5290G>C (p.Glu1764Gln)
c.5386G>C (p.Glu1796Gln)
c.5203G>C (p.Glu1735Gln)
c.5167G>C (p.Glu1723Gln)
c.1181G>C
c.739G>C
c.2645G>C
n.2561G>C
c.4681G>C (p.Glu1561Gln)
c.5431G>C (p.Glu1811Gln)
c.5332G>C (p.Glu1778Gln)
c.5266G>C (p.Glu1756Gln)
c.5248G>C (p.Glu1750Gln)
c.4900G>C (p.Glu1634Gln)
c.4780G>C (p.Glu1594Gln)
c.4991G>C (p.Arg1664Thr)
n.5022G>C
c.5407G>C (p.Glu1803Gln)
c.5344G>C (p.Glu1782Gln)
c.5335G>C (p.Glu1779Gln)
c.4945G>C (p.Glu1649Gln)
c.4804G>C (p.Glu1602Gln)
c.5236G>C (p.Glu1746Gln)
8g.41668494C>TCA4727356ANK1c.5290G>A (p.Glu1764Lys)
c.5386G>A (p.Glu1796Lys)
c.5203G>A (p.Glu1735Lys)
c.5167G>A (p.Glu1723Lys)
c.1181G>A
c.739G>A
c.2645G>A
n.2561G>A
c.4681G>A (p.Glu1561Lys)
c.5431G>A (p.Glu1811Lys)
c.5332G>A (p.Glu1778Lys)
c.5266G>A (p.Glu1756Lys)
c.5248G>A (p.Glu1750Lys)
c.4900G>A (p.Glu1634Lys)
c.4780G>A (p.Glu1594Lys)
c.4991G>A (p.Arg1664Lys)
n.5022G>A
c.5407G>A (p.Glu1803Lys)
c.5344G>A (p.Glu1782Lys)
c.5335G>A (p.Glu1779Lys)
c.4945G>A (p.Glu1649Lys)
c.4804G>A (p.Glu1602Lys)
c.5236G>A (p.Glu1746Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
8g.41668495T>ACA371051868ANK1c.5289A>T (p.Gln1763His)
c.5385A>T (p.Gln1795His)
c.5202A>T (p.Gln1734His)
c.5166A>T (p.Gln1722His)
c.1180A>T
c.738A>T
c.2644A>T
n.2560A>T
c.4680A>T (p.Gln1560His)
c.5430A>T (p.Gln1810His)
c.5331A>T (p.Gln1777His)
c.5265A>T (p.Gln1755His)
c.5247A>T (p.Gln1749His)
c.4899A>T (p.Gln1633His)
c.4779A>T (p.Gln1593His)
c.4990A>T (p.Arg1664Ter)
n.5021A>T
c.5406A>T (p.Gln1802His)
c.5343A>T (p.Gln1781His)
c.5334A>T (p.Gln1778His)
c.4944A>T (p.Gln1648His)
c.4803A>T (p.Gln1601His)
c.5235A>T (p.Gln1745His)
8g.41668495T>CCA460782097ANK1c.5289A>G (p.Gln1763=)
c.5385A>G (p.Gln1795=)
c.5202A>G (p.Gln1734=)
c.5166A>G (p.Gln1722=)
c.1180A>G
c.738A>G
c.2644A>G
n.2560A>G
c.4680A>G (p.Gln1560=)
c.5430A>G (p.Gln1810=)
c.5331A>G (p.Gln1777=)
c.5265A>G (p.Gln1755=)
c.5247A>G (p.Gln1749=)
c.4899A>G (p.Gln1633=)
c.4779A>G (p.Gln1593=)
c.4990A>G (p.Arg1664Gly)
n.5021A>G
c.5406A>G (p.Gln1802=)
c.5343A>G (p.Gln1781=)
c.5334A>G (p.Gln1778=)
c.4944A>G (p.Gln1648=)
c.4803A>G (p.Gln1601=)
c.5235A>G (p.Gln1745=)
8g.41668495T>GCA371051870ANK1c.5289A>C (p.Gln1763His)
c.5385A>C (p.Gln1795His)
c.5202A>C (p.Gln1734His)
c.5166A>C (p.Gln1722His)
c.1180A>C
c.738A>C
c.2644A>C
n.2560A>C
c.4680A>C (p.Gln1560His)
c.5430A>C (p.Gln1810His)
c.5331A>C (p.Gln1777His)
c.5265A>C (p.Gln1755His)
c.5247A>C (p.Gln1749His)
c.4899A>C (p.Gln1633His)
c.4779A>C (p.Gln1593His)
c.4990A>C (p.Arg1664=)
n.5021A>C
c.5406A>C (p.Gln1802His)
c.5343A>C (p.Gln1781His)
c.5334A>C (p.Gln1778His)
c.4944A>C (p.Gln1648His)
c.4803A>C (p.Gln1601His)
c.5235A>C (p.Gln1745His)
8g.41668496T>ACA371051875ANK1c.5288A>T (p.Gln1763Leu)
c.5384A>T (p.Gln1795Leu)
c.5201A>T (p.Gln1734Leu)
c.5165A>T (p.Gln1722Leu)
c.1179A>T
c.737A>T
c.2643A>T
n.2559A>T
c.4679A>T (p.Gln1560Leu)
c.5429A>T (p.Gln1810Leu)
c.5330A>T (p.Gln1777Leu)
c.5264A>T (p.Gln1755Leu)
c.5246A>T (p.Gln1749Leu)
c.4898A>T (p.Gln1633Leu)
c.4778A>T (p.Gln1593Leu)
c.4989A>T (p.Ala1663=)
n.5020A>T
c.5405A>T (p.Gln1802Leu)
c.5342A>T (p.Gln1781Leu)
c.5333A>T (p.Gln1778Leu)
c.4943A>T (p.Gln1648Leu)
c.4802A>T (p.Gln1601Leu)
c.5234A>T (p.Gln1745Leu)
8g.41668496T>CCA371051877ANK1c.5288A>G (p.Gln1763Arg)
c.5384A>G (p.Gln1795Arg)
c.5201A>G (p.Gln1734Arg)
c.5165A>G (p.Gln1722Arg)
c.1179A>G
c.737A>G
c.2643A>G
n.2559A>G
c.4679A>G (p.Gln1560Arg)
c.5429A>G (p.Gln1810Arg)
c.5330A>G (p.Gln1777Arg)
c.5264A>G (p.Gln1755Arg)
c.5246A>G (p.Gln1749Arg)
c.4898A>G (p.Gln1633Arg)
c.4778A>G (p.Gln1593Arg)
c.4989A>G (p.Ala1663=)
n.5020A>G
c.5405A>G (p.Gln1802Arg)
c.5342A>G (p.Gln1781Arg)
c.5333A>G (p.Gln1778Arg)
c.4943A>G (p.Gln1648Arg)
c.4802A>G (p.Gln1601Arg)
c.5234A>G (p.Gln1745Arg)
8g.41668496T>GCA371051881ANK1c.5288A>C (p.Gln1763Pro)
c.5384A>C (p.Gln1795Pro)
c.5201A>C (p.Gln1734Pro)
c.5165A>C (p.Gln1722Pro)
c.1179A>C
c.737A>C
c.2643A>C
n.2559A>C
c.4679A>C (p.Gln1560Pro)
c.5429A>C (p.Gln1810Pro)
c.5330A>C (p.Gln1777Pro)
c.5264A>C (p.Gln1755Pro)
c.5246A>C (p.Gln1749Pro)
c.4898A>C (p.Gln1633Pro)
c.4778A>C (p.Gln1593Pro)
c.4989A>C (p.Ala1663=)
n.5020A>C
c.5405A>C (p.Gln1802Pro)
c.5342A>C (p.Gln1781Pro)
c.5333A>C (p.Gln1778Pro)
c.4943A>C (p.Gln1648Pro)
c.4802A>C (p.Gln1601Pro)
c.5234A>C (p.Gln1745Pro)
8g.41668497delCA2697549852ANK1c.5287del (p.Gln1763LysfsTer17)
c.5383del (p.Gln1795LysfsTer17)
c.5200del (p.Gln1734LysfsTer17)
c.5164del (p.Gln1722LysfsTer17)
c.1178del
c.736del
c.2642del
n.2558del
c.4678del (p.Gln1560LysfsTer17)
c.5428del (p.Gln1810LysfsTer17)
c.5329del (p.Gln1777LysfsTer17)
c.5263del (p.Gln1755LysfsTer17)
c.5245del (p.Gln1749LysfsTer17)
c.4897del (p.Gln1633LysfsTer17)
c.4777del (p.Gln1593LysfsTer17)
c.4988del (p.Ala1663GlufsTer?)
n.5019del
c.5404del (p.Gln1802LysfsTer17)
c.5341del (p.Gln1781LysfsTer17)
c.5332del (p.Gln1778LysfsTer17)
c.4942del (p.Gln1648LysfsTer17)
c.4801del (p.Gln1601LysfsTer17)
c.5233del (p.Gln1745LysfsTer17)
 ClinVar
8g.41668497G>ACA371051885ANK1c.5287C>T (p.Gln1763Ter)
c.5383C>T (p.Gln1795Ter)
c.5200C>T (p.Gln1734Ter)
c.5164C>T (p.Gln1722Ter)
c.1178C>T
c.736C>T
c.2642C>T
n.2558C>T
c.4678C>T (p.Gln1560Ter)
c.5428C>T (p.Gln1810Ter)
c.5329C>T (p.Gln1777Ter)
c.5263C>T (p.Gln1755Ter)
c.5245C>T (p.Gln1749Ter)
c.4897C>T (p.Gln1633Ter)
c.4777C>T (p.Gln1593Ter)
c.4988C>T (p.Ala1663Val)
n.5019C>T
c.5404C>T (p.Gln1802Ter)
c.5341C>T (p.Gln1781Ter)
c.5332C>T (p.Gln1778Ter)
c.4942C>T (p.Gln1648Ter)
c.4801C>T (p.Gln1601Ter)
c.5233C>T (p.Gln1745Ter)
8g.41668497G>CCA371051887ANK1c.5287C>G (p.Gln1763Glu)
c.5383C>G (p.Gln1795Glu)
c.5200C>G (p.Gln1734Glu)
c.5164C>G (p.Gln1722Glu)
c.1178C>G
c.736C>G
c.2642C>G
n.2558C>G
c.4678C>G (p.Gln1560Glu)
c.5428C>G (p.Gln1810Glu)
c.5329C>G (p.Gln1777Glu)
c.5263C>G (p.Gln1755Glu)
c.5245C>G (p.Gln1749Glu)
c.4897C>G (p.Gln1633Glu)
c.4777C>G (p.Gln1593Glu)
c.4988C>G (p.Ala1663Gly)
n.5019C>G
c.5404C>G (p.Gln1802Glu)
c.5341C>G (p.Gln1781Glu)
c.5332C>G (p.Gln1778Glu)
c.4942C>G (p.Gln1648Glu)
c.4801C>G (p.Gln1601Glu)
c.5233C>G (p.Gln1745Glu)
 gnomAD v4
8g.41668497G>TCA371051890ANK1c.5287C>A (p.Gln1763Lys)
c.5383C>A (p.Gln1795Lys)
c.5200C>A (p.Gln1734Lys)
c.5164C>A (p.Gln1722Lys)
c.1178C>A
c.736C>A
c.2642C>A
n.2558C>A
c.4678C>A (p.Gln1560Lys)
c.5428C>A (p.Gln1810Lys)
c.5329C>A (p.Gln1777Lys)
c.5263C>A (p.Gln1755Lys)
c.5245C>A (p.Gln1749Lys)
c.4897C>A (p.Gln1633Lys)
c.4777C>A (p.Gln1593Lys)
c.4988C>A (p.Ala1663Glu)
n.5019C>A
c.5404C>A (p.Gln1802Lys)
c.5341C>A (p.Gln1781Lys)
c.5332C>A (p.Gln1778Lys)
c.4942C>A (p.Gln1648Lys)
c.4801C>A (p.Gln1601Lys)
c.5233C>A (p.Gln1745Lys)
8g.41668498C>ACA371051894ANK1c.5286G>T (p.Trp1762Cys)
c.5382G>T (p.Trp1794Cys)
c.5199G>T (p.Trp1733Cys)
c.5163G>T (p.Trp1721Cys)
c.1177G>T
c.735G>T
c.2641G>T
n.2557G>T
c.4677G>T (p.Trp1559Cys)
c.5427G>T (p.Trp1809Cys)
c.5328G>T (p.Trp1776Cys)
c.5262G>T (p.Trp1754Cys)
c.5244G>T (p.Trp1748Cys)
c.4896G>T (p.Trp1632Cys)
c.4776G>T (p.Trp1592Cys)
c.4987G>T (p.Ala1663Ser)
n.5018G>T
c.5403G>T (p.Trp1801Cys)
c.5340G>T (p.Trp1780Cys)
c.5331G>T (p.Trp1777Cys)
c.4941G>T (p.Trp1647Cys)
c.4800G>T (p.Trp1600Cys)
c.5232G>T (p.Trp1744Cys)
8g.41668498C=CA1779071313ANK1c.5286G= (p.Trp1762=)
c.5382G= (p.Trp1794=)
c.5199G= (p.Trp1733=)
c.5163G= (p.Trp1721=)
c.1177G=
c.735G=
c.2641G=
n.2557G=
c.4677G= (p.Trp1559=)
c.5427G= (p.Trp1809=)
c.5328G= (p.Trp1776=)
c.5262G= (p.Trp1754=)
c.5244G= (p.Trp1748=)
c.4896G= (p.Trp1632=)
c.4776G= (p.Trp1592=)
c.4987G= (p.Ala1663=)
n.5018G=
c.5403G= (p.Trp1801=)
c.5340G= (p.Trp1780=)
c.5331G= (p.Trp1777=)
c.4941G= (p.Trp1647=)
c.4800G= (p.Trp1600=)
c.5232G= (p.Trp1744=)
8g.41668498C>GCA371051898ANK1c.5286G>C (p.Trp1762Cys)
c.5382G>C (p.Trp1794Cys)
c.5199G>C (p.Trp1733Cys)
c.5163G>C (p.Trp1721Cys)
c.1177G>C
c.735G>C
c.2641G>C
n.2557G>C
c.4677G>C (p.Trp1559Cys)
c.5427G>C (p.Trp1809Cys)
c.5328G>C (p.Trp1776Cys)
c.5262G>C (p.Trp1754Cys)
c.5244G>C (p.Trp1748Cys)
c.4896G>C (p.Trp1632Cys)
c.4776G>C (p.Trp1592Cys)
c.4987G>C (p.Ala1663Pro)
n.5018G>C
c.5403G>C (p.Trp1801Cys)
c.5340G>C (p.Trp1780Cys)
c.5331G>C (p.Trp1777Cys)
c.4941G>C (p.Trp1647Cys)
c.4800G>C (p.Trp1600Cys)
c.5232G>C (p.Trp1744Cys)
8g.41668498C>TCA114339ANK1c.5286G>A (p.Trp1762Ter)
c.5382G>A (p.Trp1794Ter)
c.5199G>A (p.Trp1733Ter)
c.5163G>A (p.Trp1721Ter)
c.1177G>A
c.735G>A
c.2641G>A
n.2557G>A
c.4677G>A (p.Trp1559Ter)
c.5427G>A (p.Trp1809Ter)
c.5328G>A (p.Trp1776Ter)
c.5262G>A (p.Trp1754Ter)
c.5244G>A (p.Trp1748Ter)
c.4896G>A (p.Trp1632Ter)
c.4776G>A (p.Trp1592Ter)
c.4987G>A (p.Ala1663Thr)
n.5018G>A
c.5403G>A (p.Trp1801Ter)
c.5340G>A (p.Trp1780Ter)
c.5331G>A (p.Trp1777Ter)
c.4941G>A (p.Trp1647Ter)
c.4800G>A (p.Trp1600Ter)
c.5232G>A (p.Trp1744Ter)
 ClinVar dbSNP
8g.41668499C>ACA371051903ANK1c.5285G>T (p.Trp1762Leu)
c.5381G>T (p.Trp1794Leu)
c.5198G>T (p.Trp1733Leu)
c.5162G>T (p.Trp1721Leu)
c.1176G>T
c.734G>T
c.2640G>T
n.2556G>T
c.4676G>T (p.Trp1559Leu)
c.5426G>T (p.Trp1809Leu)
c.5327G>T (p.Trp1776Leu)
c.5261G>T (p.Trp1754Leu)
c.5243G>T (p.Trp1748Leu)
c.4895G>T (p.Trp1632Leu)
c.4775G>T (p.Trp1592Leu)
c.4986G>T (p.Leu1662=)
n.5017G>T
c.5402G>T (p.Trp1801Leu)
c.5339G>T (p.Trp1780Leu)
c.5330G>T (p.Trp1777Leu)
c.4940G>T (p.Trp1647Leu)
c.4799G>T (p.Trp1600Leu)
c.5231G>T (p.Trp1744Leu)
8g.41668499C>GCA371051906ANK1c.5285G>C (p.Trp1762Ser)
c.5381G>C (p.Trp1794Ser)
c.5198G>C (p.Trp1733Ser)
c.5162G>C (p.Trp1721Ser)
c.1176G>C
c.734G>C
c.2640G>C
n.2556G>C
c.4676G>C (p.Trp1559Ser)
c.5426G>C (p.Trp1809Ser)
c.5327G>C (p.Trp1776Ser)
c.5261G>C (p.Trp1754Ser)
c.5243G>C (p.Trp1748Ser)
c.4895G>C (p.Trp1632Ser)
c.4775G>C (p.Trp1592Ser)
c.4986G>C (p.Leu1662=)
n.5017G>C
c.5402G>C (p.Trp1801Ser)
c.5339G>C (p.Trp1780Ser)
c.5330G>C (p.Trp1777Ser)
c.4940G>C (p.Trp1647Ser)
c.4799G>C (p.Trp1600Ser)
c.5231G>C (p.Trp1744Ser)
8g.41668499C>TCA371051909ANK1c.5285G>A (p.Trp1762Ter)
c.5381G>A (p.Trp1794Ter)
c.5198G>A (p.Trp1733Ter)
c.5162G>A (p.Trp1721Ter)
c.1176G>A
c.734G>A
c.2640G>A
n.2556G>A
c.4676G>A (p.Trp1559Ter)
c.5426G>A (p.Trp1809Ter)
c.5327G>A (p.Trp1776Ter)
c.5261G>A (p.Trp1754Ter)
c.5243G>A (p.Trp1748Ter)
c.4895G>A (p.Trp1632Ter)
c.4775G>A (p.Trp1592Ter)
c.4986G>A (p.Leu1662=)
n.5017G>A
c.5402G>A (p.Trp1801Ter)
c.5339G>A (p.Trp1780Ter)
c.5330G>A (p.Trp1777Ter)
c.4940G>A (p.Trp1647Ter)
c.4799G>A (p.Trp1600Ter)
c.5231G>A (p.Trp1744Ter)
8g.41668500A=CA1779071317ANK1c.5284T= (p.Trp1762=)
c.5380T= (p.Trp1794=)
c.5197T= (p.Trp1733=)
c.5161T= (p.Trp1721=)
c.1175T=
c.733T=
c.2639T=
n.2555T=
c.4675T= (p.Trp1559=)
c.5425T= (p.Trp1809=)
c.5326T= (p.Trp1776=)
c.5260T= (p.Trp1754=)
c.5242T= (p.Trp1748=)
c.4894T= (p.Trp1632=)
c.4774T= (p.Trp1592=)
c.4985T= (p.Leu1662=)
n.5016T=
c.5401T= (p.Trp1801=)
c.5338T= (p.Trp1780=)
c.5329T= (p.Trp1777=)
c.4939T= (p.Trp1647=)
c.4798T= (p.Trp1600=)
c.5230T= (p.Trp1744=)
8g.41668500A>CCA371051915ANK1c.5284T>G (p.Trp1762Gly)
c.5380T>G (p.Trp1794Gly)
c.5197T>G (p.Trp1733Gly)
c.5161T>G (p.Trp1721Gly)
c.1175T>G
c.733T>G
c.2639T>G
n.2555T>G
c.4675T>G (p.Trp1559Gly)
c.5425T>G (p.Trp1809Gly)
c.5326T>G (p.Trp1776Gly)
c.5260T>G (p.Trp1754Gly)
c.5242T>G (p.Trp1748Gly)
c.4894T>G (p.Trp1632Gly)
c.4774T>G (p.Trp1592Gly)
c.4985T>G (p.Leu1662Arg)
n.5016T>G
c.5401T>G (p.Trp1801Gly)
c.5338T>G (p.Trp1780Gly)
c.5329T>G (p.Trp1777Gly)
c.4939T>G (p.Trp1647Gly)
c.4798T>G (p.Trp1600Gly)
c.5230T>G (p.Trp1744Gly)
8g.41668500A>GCA371051921ANK1c.5284T>C (p.Trp1762Arg)
c.5380T>C (p.Trp1794Arg)
c.5197T>C (p.Trp1733Arg)
c.5161T>C (p.Trp1721Arg)
c.1175T>C
c.733T>C
c.2639T>C
n.2555T>C
c.4675T>C (p.Trp1559Arg)
c.5425T>C (p.Trp1809Arg)
c.5326T>C (p.Trp1776Arg)
c.5260T>C (p.Trp1754Arg)
c.5242T>C (p.Trp1748Arg)
c.4894T>C (p.Trp1632Arg)
c.4774T>C (p.Trp1592Arg)
c.4985T>C (p.Leu1662Pro)
n.5016T>C
c.5401T>C (p.Trp1801Arg)
c.5338T>C (p.Trp1780Arg)
c.5329T>C (p.Trp1777Arg)
c.4939T>C (p.Trp1647Arg)
c.4798T>C (p.Trp1600Arg)
c.5230T>C (p.Trp1744Arg)
 dbSNP gnomAD v3 gnomAD v4
8g.41668500A>TCA371051917ANK1c.5284T>A (p.Trp1762Arg)
c.5380T>A (p.Trp1794Arg)
c.5197T>A (p.Trp1733Arg)
c.5161T>A (p.Trp1721Arg)
c.1175T>A
c.733T>A
c.2639T>A
n.2555T>A
c.4675T>A (p.Trp1559Arg)
c.5425T>A (p.Trp1809Arg)
c.5326T>A (p.Trp1776Arg)
c.5260T>A (p.Trp1754Arg)
c.5242T>A (p.Trp1748Arg)
c.4894T>A (p.Trp1632Arg)
c.4774T>A (p.Trp1592Arg)
c.4985T>A (p.Leu1662Gln)
n.5016T>A
c.5401T>A (p.Trp1801Arg)
c.5338T>A (p.Trp1780Arg)
c.5329T>A (p.Trp1777Arg)
c.4939T>A (p.Trp1647Arg)
c.4798T>A (p.Trp1600Arg)
c.5230T>A (p.Trp1744Arg)
 dbSNP gnomAD v4
8g.41668501G>ACA460782099ANK1c.5283C>T (p.Ser1761=)
c.5379C>T (p.Ser1793=)
c.5196C>T (p.Ser1732=)
c.5160C>T (p.Ser1720=)
c.1174C>T
c.732C>T
c.2638C>T
n.2554C>T
c.4674C>T (p.Ser1558=)
c.5424C>T (p.Ser1808=)
c.5325C>T (p.Ser1775=)
c.5259C>T (p.Ser1753=)
c.5241C>T (p.Ser1747=)
c.4893C>T (p.Ser1631=)
c.4773C>T (p.Ser1591=)
c.4984C>T (p.Leu1662=)
n.5015C>T
c.5400C>T (p.Ser1800=)
c.5337C>T (p.Ser1779=)
c.5328C>T (p.Ser1776=)
c.4938C>T (p.Ser1646=)
c.4797C>T (p.Ser1599=)
c.5229C>T (p.Ser1743=)
 gnomAD v4
8g.41668501G>CCA460782100ANK1c.5283C>G (p.Ser1761=)
c.5379C>G (p.Ser1793=)
c.5196C>G (p.Ser1732=)
c.5160C>G (p.Ser1720=)
c.1174C>G
c.732C>G
c.2638C>G
n.2554C>G
c.4674C>G (p.Ser1558=)
c.5424C>G (p.Ser1808=)
c.5325C>G (p.Ser1775=)
c.5259C>G (p.Ser1753=)
c.5241C>G (p.Ser1747=)
c.4893C>G (p.Ser1631=)
c.4773C>G (p.Ser1591=)
c.4984C>G (p.Leu1662Val)
n.5015C>G
c.5400C>G (p.Ser1800=)
c.5337C>G (p.Ser1779=)
c.5328C>G (p.Ser1776=)
c.4938C>G (p.Ser1646=)
c.4797C>G (p.Ser1599=)
c.5229C>G (p.Ser1743=)
8g.41668501G>TCA460782098ANK1c.5283C>A (p.Ser1761=)
c.5379C>A (p.Ser1793=)
c.5196C>A (p.Ser1732=)
c.5160C>A (p.Ser1720=)
c.1174C>A
c.732C>A
c.2638C>A
n.2554C>A
c.4674C>A (p.Ser1558=)
c.5424C>A (p.Ser1808=)
c.5325C>A (p.Ser1775=)
c.5259C>A (p.Ser1753=)
c.5241C>A (p.Ser1747=)
c.4893C>A (p.Ser1631=)
c.4773C>A (p.Ser1591=)
c.4984C>A (p.Leu1662Met)
n.5015C>A
c.5400C>A (p.Ser1800=)
c.5337C>A (p.Ser1779=)
c.5328C>A (p.Ser1776=)
c.4938C>A (p.Ser1646=)
c.4797C>A (p.Ser1599=)
c.5229C>A (p.Ser1743=)
8g.41668502G>ACA371051926ANK1c.5282C>T (p.Ser1761Phe)
c.5378C>T (p.Ser1793Phe)
c.5195C>T (p.Ser1732Phe)
c.5159C>T (p.Ser1720Phe)
c.1173C>T
c.731C>T
c.2637C>T
n.2553C>T
c.4673C>T (p.Ser1558Phe)
c.5423C>T (p.Ser1808Phe)
c.5324C>T (p.Ser1775Phe)
c.5258C>T (p.Ser1753Phe)
c.5240C>T (p.Ser1747Phe)
c.4892C>T (p.Ser1631Phe)
c.4772C>T (p.Ser1591Phe)
c.4983C>T (p.Phe1661=)
n.5014C>T
c.5399C>T (p.Ser1800Phe)
c.5336C>T (p.Ser1779Phe)
c.5327C>T (p.Ser1776Phe)
c.4937C>T (p.Ser1646Phe)
c.4796C>T (p.Ser1599Phe)
c.5228C>T (p.Ser1743Phe)
8g.41668502G>CCA371051929ANK1c.5282C>G (p.Ser1761Cys)
c.5378C>G (p.Ser1793Cys)
c.5195C>G (p.Ser1732Cys)
c.5159C>G (p.Ser1720Cys)
c.1173C>G
c.731C>G
c.2637C>G
n.2553C>G
c.4673C>G (p.Ser1558Cys)
c.5423C>G (p.Ser1808Cys)
c.5324C>G (p.Ser1775Cys)
c.5258C>G (p.Ser1753Cys)
c.5240C>G (p.Ser1747Cys)
c.4892C>G (p.Ser1631Cys)
c.4772C>G (p.Ser1591Cys)
c.4983C>G (p.Phe1661Leu)
n.5014C>G
c.5399C>G (p.Ser1800Cys)
c.5336C>G (p.Ser1779Cys)
c.5327C>G (p.Ser1776Cys)
c.4937C>G (p.Ser1646Cys)
c.4796C>G (p.Ser1599Cys)
c.5228C>G (p.Ser1743Cys)
8g.41668502G>TCA371051933ANK1c.5282C>A (p.Ser1761Tyr)
c.5378C>A (p.Ser1793Tyr)
c.5195C>A (p.Ser1732Tyr)
c.5159C>A (p.Ser1720Tyr)
c.1173C>A
c.731C>A
c.2637C>A
n.2553C>A
c.4673C>A (p.Ser1558Tyr)
c.5423C>A (p.Ser1808Tyr)
c.5324C>A (p.Ser1775Tyr)
c.5258C>A (p.Ser1753Tyr)
c.5240C>A (p.Ser1747Tyr)
c.4892C>A (p.Ser1631Tyr)
c.4772C>A (p.Ser1591Tyr)
c.4983C>A (p.Phe1661Leu)
n.5014C>A
c.5399C>A (p.Ser1800Tyr)
c.5336C>A (p.Ser1779Tyr)
c.5327C>A (p.Ser1776Tyr)
c.4937C>A (p.Ser1646Tyr)
c.4796C>A (p.Ser1599Tyr)
c.5228C>A (p.Ser1743Tyr)
8g.41668503A>CCA371051934ANK1c.5281T>G (p.Ser1761Ala)
c.5377T>G (p.Ser1793Ala)
c.5194T>G (p.Ser1732Ala)
c.5158T>G (p.Ser1720Ala)
c.1172T>G
c.730T>G
c.2636T>G
n.2552T>G
c.4672T>G (p.Ser1558Ala)
c.5422T>G (p.Ser1808Ala)
c.5323T>G (p.Ser1775Ala)
c.5257T>G (p.Ser1753Ala)
c.5239T>G (p.Ser1747Ala)
c.4891T>G (p.Ser1631Ala)
c.4771T>G (p.Ser1591Ala)
c.4982T>G (p.Phe1661Cys)
n.5013T>G
c.5398T>G (p.Ser1800Ala)
c.5335T>G (p.Ser1779Ala)
c.5326T>G (p.Ser1776Ala)
c.4936T>G (p.Ser1646Ala)
c.4795T>G (p.Ser1599Ala)
c.5227T>G (p.Ser1743Ala)
8g.41668503A>GCA371051938ANK1c.5281T>C (p.Ser1761Pro)
c.5377T>C (p.Ser1793Pro)
c.5194T>C (p.Ser1732Pro)
c.5158T>C (p.Ser1720Pro)
c.1172T>C
c.730T>C
c.2636T>C
n.2552T>C
c.4672T>C (p.Ser1558Pro)
c.5422T>C (p.Ser1808Pro)
c.5323T>C (p.Ser1775Pro)
c.5257T>C (p.Ser1753Pro)
c.5239T>C (p.Ser1747Pro)
c.4891T>C (p.Ser1631Pro)
c.4771T>C (p.Ser1591Pro)
c.4982T>C (p.Phe1661Ser)
n.5013T>C
c.5398T>C (p.Ser1800Pro)
c.5335T>C (p.Ser1779Pro)
c.5326T>C (p.Ser1776Pro)
c.4936T>C (p.Ser1646Pro)
c.4795T>C (p.Ser1599Pro)
c.5227T>C (p.Ser1743Pro)
8g.41668503A>TCA371051940ANK1c.5281T>A (p.Ser1761Thr)
c.5377T>A (p.Ser1793Thr)
c.5194T>A (p.Ser1732Thr)
c.5158T>A (p.Ser1720Thr)
c.1172T>A
c.730T>A
c.2636T>A
n.2552T>A
c.4672T>A (p.Ser1558Thr)
c.5422T>A (p.Ser1808Thr)
c.5323T>A (p.Ser1775Thr)
c.5257T>A (p.Ser1753Thr)
c.5239T>A (p.Ser1747Thr)
c.4891T>A (p.Ser1631Thr)
c.4771T>A (p.Ser1591Thr)
c.4982T>A (p.Phe1661Tyr)
n.5013T>A
c.5398T>A (p.Ser1800Thr)
c.5335T>A (p.Ser1779Thr)
c.5326T>A (p.Ser1776Thr)
c.4936T>A (p.Ser1646Thr)
c.4795T>A (p.Ser1599Thr)
c.5227T>A (p.Ser1743Thr)
8g.41668504A>CCA460782101ANK1c.5280T>G (p.Gly1760=)
c.5376T>G (p.Gly1792=)
c.5193T>G (p.Gly1731=)
c.5157T>G (p.Gly1719=)
c.1171T>G
c.729T>G
c.2635T>G
n.2551T>G
c.4671T>G (p.Gly1557=)
c.5421T>G (p.Gly1807=)
c.5322T>G (p.Gly1774=)
c.5256T>G (p.Gly1752=)
c.5238T>G (p.Gly1746=)
c.4890T>G (p.Gly1630=)
c.4770T>G (p.Gly1590=)
c.4981T>G (p.Phe1661Val)
n.5012T>G
c.5397T>G (p.Gly1799=)
c.5334T>G (p.Gly1778=)
c.5325T>G (p.Gly1775=)
c.4935T>G (p.Gly1645=)
c.4794T>G (p.Gly1598=)
c.5226T>G (p.Gly1742=)
8g.41668504A>GCA460782102ANK1c.5280T>C (p.Gly1760=)
c.5376T>C (p.Gly1792=)
c.5193T>C (p.Gly1731=)
c.5157T>C (p.Gly1719=)
c.1171T>C
c.729T>C
c.2635T>C
n.2551T>C
c.4671T>C (p.Gly1557=)
c.5421T>C (p.Gly1807=)
c.5322T>C (p.Gly1774=)
c.5256T>C (p.Gly1752=)
c.5238T>C (p.Gly1746=)
c.4890T>C (p.Gly1630=)
c.4770T>C (p.Gly1590=)
c.4981T>C (p.Phe1661Leu)
n.5012T>C
c.5397T>C (p.Gly1799=)
c.5334T>C (p.Gly1778=)
c.5325T>C (p.Gly1775=)
c.4935T>C (p.Gly1645=)
c.4794T>C (p.Gly1598=)
c.5226T>C (p.Gly1742=)
8g.41668504A>TCA460782103ANK1c.5280T>A (p.Gly1760=)
c.5376T>A (p.Gly1792=)
c.5193T>A (p.Gly1731=)
c.5157T>A (p.Gly1719=)
c.1171T>A
c.729T>A
c.2635T>A
n.2551T>A
c.4671T>A (p.Gly1557=)
c.5421T>A (p.Gly1807=)
c.5322T>A (p.Gly1774=)
c.5256T>A (p.Gly1752=)
c.5238T>A (p.Gly1746=)
c.4890T>A (p.Gly1630=)
c.4770T>A (p.Gly1590=)
c.4981T>A (p.Phe1661Ile)
n.5012T>A
c.5397T>A (p.Gly1799=)
c.5334T>A (p.Gly1778=)
c.5325T>A (p.Gly1775=)
c.4935T>A (p.Gly1645=)
c.4794T>A (p.Gly1598=)
c.5226T>A (p.Gly1742=)
8g.41668505C>ACA371051943ANK1c.5279G>T (p.Gly1760Val)
c.5375G>T (p.Gly1792Val)
c.5192G>T (p.Gly1731Val)
c.5156G>T (p.Gly1719Val)
c.1170G>T
c.728G>T
c.2634G>T
n.2550G>T
c.4670G>T (p.Gly1557Val)
c.5420G>T (p.Gly1807Val)
c.5321G>T (p.Gly1774Val)
c.5255G>T (p.Gly1752Val)
c.5237G>T (p.Gly1746Val)
c.4889G>T (p.Gly1630Val)
c.4769G>T (p.Gly1590Val)
c.4980G>T (p.Arg1660Ser)
n.5011G>T
c.5396G>T (p.Gly1799Val)
c.5333G>T (p.Gly1778Val)
c.5324G>T (p.Gly1775Val)
c.4934G>T (p.Gly1645Val)
c.4793G>T (p.Gly1598Val)
c.5225G>T (p.Gly1742Val)
8g.41668505C=CA1779071319ANK1c.5279G= (p.Gly1760=)
c.5375G= (p.Gly1792=)
c.5192G= (p.Gly1731=)
c.5156G= (p.Gly1719=)
c.1170G=
c.728G=
c.2634G=
n.2550G=
c.4670G= (p.Gly1557=)
c.5420G= (p.Gly1807=)
c.5321G= (p.Gly1774=)
c.5255G= (p.Gly1752=)
c.5237G= (p.Gly1746=)
c.4889G= (p.Gly1630=)
c.4769G= (p.Gly1590=)
c.4980G= (p.Arg1660=)
n.5011G=
c.5396G= (p.Gly1799=)
c.5333G= (p.Gly1778=)
c.5324G= (p.Gly1775=)
c.4934G= (p.Gly1645=)
c.4793G= (p.Gly1598=)
c.5225G= (p.Gly1742=)
8g.41668505C>GCA371051949ANK1c.5279G>C (p.Gly1760Ala)
c.5375G>C (p.Gly1792Ala)
c.5192G>C (p.Gly1731Ala)
c.5156G>C (p.Gly1719Ala)
c.1170G>C
c.728G>C
c.2634G>C
n.2550G>C
c.4670G>C (p.Gly1557Ala)
c.5420G>C (p.Gly1807Ala)
c.5321G>C (p.Gly1774Ala)
c.5255G>C (p.Gly1752Ala)
c.5237G>C (p.Gly1746Ala)
c.4889G>C (p.Gly1630Ala)
c.4769G>C (p.Gly1590Ala)
c.4980G>C (p.Arg1660Ser)
n.5011G>C
c.5396G>C (p.Gly1799Ala)
c.5333G>C (p.Gly1778Ala)
c.5324G>C (p.Gly1775Ala)
c.4934G>C (p.Gly1645Ala)
c.4793G>C (p.Gly1598Ala)
c.5225G>C (p.Gly1742Ala)
8g.41668505C>TCA4727357ANK1c.5279G>A (p.Gly1760Asp)
c.5375G>A (p.Gly1792Asp)
c.5192G>A (p.Gly1731Asp)
c.5156G>A (p.Gly1719Asp)
c.1170G>A
c.728G>A
c.2634G>A
n.2550G>A
c.4670G>A (p.Gly1557Asp)
c.5420G>A (p.Gly1807Asp)
c.5321G>A (p.Gly1774Asp)
c.5255G>A (p.Gly1752Asp)
c.5237G>A (p.Gly1746Asp)
c.4889G>A (p.Gly1630Asp)
c.4769G>A (p.Gly1590Asp)
c.4980G>A (p.Arg1660=)
n.5011G>A
c.5396G>A (p.Gly1799Asp)
c.5333G>A (p.Gly1778Asp)
c.5324G>A (p.Gly1775Asp)
c.4934G>A (p.Gly1645Asp)
c.4793G>A (p.Gly1598Asp)
c.5225G>A (p.Gly1742Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.41668506C>ACA371051954ANK1c.5278G>T (p.Gly1760Cys)
c.5374G>T (p.Gly1792Cys)
c.5191G>T (p.Gly1731Cys)
c.5155G>T (p.Gly1719Cys)
c.1169G>T
c.727G>T
c.2633G>T
n.2549G>T
c.4669G>T (p.Gly1557Cys)
c.5419G>T (p.Gly1807Cys)
c.5320G>T (p.Gly1774Cys)
c.5254G>T (p.Gly1752Cys)
c.5236G>T (p.Gly1746Cys)
c.4888G>T (p.Gly1630Cys)
c.4768G>T (p.Gly1590Cys)
c.4979G>T (p.Arg1660Met)
n.5010G>T
c.5395G>T (p.Gly1799Cys)
c.5332G>T (p.Gly1778Cys)
c.5323G>T (p.Gly1775Cys)
c.4933G>T (p.Gly1645Cys)
c.4792G>T (p.Gly1598Cys)
c.5224G>T (p.Gly1742Cys)
8g.41668506C=CA1779071325ANK1c.5278G= (p.Gly1760=)
c.5374G= (p.Gly1792=)
c.5191G= (p.Gly1731=)
c.5155G= (p.Gly1719=)
c.1169G=
c.727G=
c.2633G=
n.2549G=
c.4669G= (p.Gly1557=)
c.5419G= (p.Gly1807=)
c.5320G= (p.Gly1774=)
c.5254G= (p.Gly1752=)
c.5236G= (p.Gly1746=)
c.4888G= (p.Gly1630=)
c.4768G= (p.Gly1590=)
c.4979G= (p.Arg1660=)
n.5010G=
c.5395G= (p.Gly1799=)
c.5332G= (p.Gly1778=)
c.5323G= (p.Gly1775=)
c.4933G= (p.Gly1645=)
c.4792G= (p.Gly1598=)
c.5224G= (p.Gly1742=)
8g.41668506C>GCA371051956ANK1c.5278G>C (p.Gly1760Arg)
c.5374G>C (p.Gly1792Arg)
c.5191G>C (p.Gly1731Arg)
c.5155G>C (p.Gly1719Arg)
c.1169G>C
c.727G>C
c.2633G>C
n.2549G>C
c.4669G>C (p.Gly1557Arg)
c.5419G>C (p.Gly1807Arg)
c.5320G>C (p.Gly1774Arg)
c.5254G>C (p.Gly1752Arg)
c.5236G>C (p.Gly1746Arg)
c.4888G>C (p.Gly1630Arg)
c.4768G>C (p.Gly1590Arg)
c.4979G>C (p.Arg1660Thr)
n.5010G>C
c.5395G>C (p.Gly1799Arg)
c.5332G>C (p.Gly1778Arg)
c.5323G>C (p.Gly1775Arg)
c.4933G>C (p.Gly1645Arg)
c.4792G>C (p.Gly1598Arg)
c.5224G>C (p.Gly1742Arg)
 gnomAD v4
8g.41668506C>TCA175914382ANK1c.5278G>A (p.Gly1760Ser)
c.5374G>A (p.Gly1792Ser)
c.5191G>A (p.Gly1731Ser)
c.5155G>A (p.Gly1719Ser)
c.1169G>A
c.727G>A
c.2633G>A
n.2549G>A
c.4669G>A (p.Gly1557Ser)
c.5419G>A (p.Gly1807Ser)
c.5320G>A (p.Gly1774Ser)
c.5254G>A (p.Gly1752Ser)
c.5236G>A (p.Gly1746Ser)
c.4888G>A (p.Gly1630Ser)
c.4768G>A (p.Gly1590Ser)
c.4979G>A (p.Arg1660Lys)
n.5010G>A
c.5395G>A (p.Gly1799Ser)
c.5332G>A (p.Gly1778Ser)
c.5323G>A (p.Gly1775Ser)
c.4933G>A (p.Gly1645Ser)
c.4792G>A (p.Gly1598Ser)
c.5224G>A (p.Gly1742Ser)
 dbSNP
8g.41668507T>ACA371051965ANK1c.5277A>T (p.Gln1759His)
c.5373A>T (p.Gln1791His)
c.5190A>T (p.Gln1730His)
c.5154A>T (p.Gln1718His)
c.1168A>T
c.726A>T
c.2632A>T
n.2548A>T
c.4668A>T (p.Gln1556His)
c.5418A>T (p.Gln1806His)
c.5319A>T (p.Gln1773His)
c.5253A>T (p.Gln1751His)
c.5235A>T (p.Gln1745His)
c.4887A>T (p.Gln1629His)
c.4767A>T (p.Gln1589His)
c.4978A>T (p.Arg1660Trp)
n.5009A>T
c.5394A>T (p.Gln1798His)
c.5331A>T (p.Gln1777His)
c.5322A>T (p.Gln1774His)
c.4932A>T (p.Gln1644His)
c.4791A>T (p.Gln1597His)
c.5223A>T (p.Gln1741His)
8g.41668507T>CCA460782104ANK1c.5277A>G (p.Gln1759=)
c.5373A>G (p.Gln1791=)
c.5190A>G (p.Gln1730=)
c.5154A>G (p.Gln1718=)
c.1168A>G
c.726A>G
c.2632A>G
n.2548A>G
c.4668A>G (p.Gln1556=)
c.5418A>G (p.Gln1806=)
c.5319A>G (p.Gln1773=)
c.5253A>G (p.Gln1751=)
c.5235A>G (p.Gln1745=)
c.4887A>G (p.Gln1629=)
c.4767A>G (p.Gln1589=)
c.4978A>G (p.Arg1660Gly)
n.5009A>G
c.5394A>G (p.Gln1798=)
c.5331A>G (p.Gln1777=)
c.5322A>G (p.Gln1774=)
c.4932A>G (p.Gln1644=)
c.4791A>G (p.Gln1597=)
c.5223A>G (p.Gln1741=)
8g.41668507T>GCA371051963ANK1c.5277A>C (p.Gln1759His)
c.5373A>C (p.Gln1791His)
c.5190A>C (p.Gln1730His)
c.5154A>C (p.Gln1718His)
c.1168A>C
c.726A>C
c.2632A>C
n.2548A>C
c.4668A>C (p.Gln1556His)
c.5418A>C (p.Gln1806His)
c.5319A>C (p.Gln1773His)
c.5253A>C (p.Gln1751His)
c.5235A>C (p.Gln1745His)
c.4887A>C (p.Gln1629His)
c.4767A>C (p.Gln1589His)
c.4978A>C (p.Arg1660=)
n.5009A>C
c.5394A>C (p.Gln1798His)
c.5331A>C (p.Gln1777His)
c.5322A>C (p.Gln1774His)
c.4932A>C (p.Gln1644His)
c.4791A>C (p.Gln1597His)
c.5223A>C (p.Gln1741His)
8g.41668508T>ACA371051969ANK1c.5276A>T (p.Gln1759Leu)
c.5372A>T (p.Gln1791Leu)
c.5189A>T (p.Gln1730Leu)
c.5153A>T (p.Gln1718Leu)
c.1167A>T
c.725A>T
c.2631A>T
n.2547A>T
c.4667A>T (p.Gln1556Leu)
c.5417A>T (p.Gln1806Leu)
c.5318A>T (p.Gln1773Leu)
c.5252A>T (p.Gln1751Leu)
c.5234A>T (p.Gln1745Leu)
c.4886A>T (p.Gln1629Leu)
c.4766A>T (p.Gln1589Leu)
c.4977A>T (p.Thr1659=)
n.5008A>T
c.5393A>T (p.Gln1798Leu)
c.5330A>T (p.Gln1777Leu)
c.5321A>T (p.Gln1774Leu)
c.4931A>T (p.Gln1644Leu)
c.4790A>T (p.Gln1597Leu)
c.5222A>T (p.Gln1741Leu)
8g.41668508T>CCA371051971ANK1c.5276A>G (p.Gln1759Arg)
c.5372A>G (p.Gln1791Arg)
c.5189A>G (p.Gln1730Arg)
c.5153A>G (p.Gln1718Arg)
c.1167A>G
c.725A>G
c.2631A>G
n.2547A>G
c.4667A>G (p.Gln1556Arg)
c.5417A>G (p.Gln1806Arg)
c.5318A>G (p.Gln1773Arg)
c.5252A>G (p.Gln1751Arg)
c.5234A>G (p.Gln1745Arg)
c.4886A>G (p.Gln1629Arg)
c.4766A>G (p.Gln1589Arg)
c.4977A>G (p.Thr1659=)
n.5008A>G
c.5393A>G (p.Gln1798Arg)
c.5330A>G (p.Gln1777Arg)
c.5321A>G (p.Gln1774Arg)
c.4931A>G (p.Gln1644Arg)
c.4790A>G (p.Gln1597Arg)
c.5222A>G (p.Gln1741Arg)
8g.41668508T>GCA4727358ANK1c.5276A>C (p.Gln1759Pro)
c.5372A>C (p.Gln1791Pro)
c.5189A>C (p.Gln1730Pro)
c.5153A>C (p.Gln1718Pro)
c.1167A>C
c.725A>C
c.2631A>C
n.2547A>C
c.4667A>C (p.Gln1556Pro)
c.5417A>C (p.Gln1806Pro)
c.5318A>C (p.Gln1773Pro)
c.5252A>C (p.Gln1751Pro)
c.5234A>C (p.Gln1745Pro)
c.4886A>C (p.Gln1629Pro)
c.4766A>C (p.Gln1589Pro)
c.4977A>C (p.Thr1659=)
n.5008A>C
c.5393A>C (p.Gln1798Pro)
c.5330A>C (p.Gln1777Pro)
c.5321A>C (p.Gln1774Pro)
c.4931A>C (p.Gln1644Pro)
c.4790A>C (p.Gln1597Pro)
c.5222A>C (p.Gln1741Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41668508T=CA1779071330ANK1c.5276A= (p.Gln1759=)
c.5372A= (p.Gln1791=)
c.5189A= (p.Gln1730=)
c.5153A= (p.Gln1718=)
c.1167A=
c.725A=
c.2631A=
n.2547A=
c.4667A= (p.Gln1556=)
c.5417A= (p.Gln1806=)
c.5318A= (p.Gln1773=)
c.5252A= (p.Gln1751=)
c.5234A= (p.Gln1745=)
c.4886A= (p.Gln1629=)
c.4766A= (p.Gln1589=)
c.4977A= (p.Thr1659=)
n.5008A=
c.5393A= (p.Gln1798=)
c.5330A= (p.Gln1777=)
c.5321A= (p.Gln1774=)
c.4931A= (p.Gln1644=)
c.4790A= (p.Gln1597=)
c.5222A= (p.Gln1741=)
8g.41668509G>ACA371051975ANK1c.5275C>T (p.Gln1759Ter)
c.5371C>T (p.Gln1791Ter)
c.5188C>T (p.Gln1730Ter)
c.5152C>T (p.Gln1718Ter)
c.1166C>T
c.724C>T
c.2630C>T
n.2546C>T
c.4666C>T (p.Gln1556Ter)
c.5416C>T (p.Gln1806Ter)
c.5317C>T (p.Gln1773Ter)
c.5251C>T (p.Gln1751Ter)
c.5233C>T (p.Gln1745Ter)
c.4885C>T (p.Gln1629Ter)
c.4765C>T (p.Gln1589Ter)
c.4976C>T (p.Thr1659Ile)
n.5007C>T
c.5392C>T (p.Gln1798Ter)
c.5329C>T (p.Gln1777Ter)
c.5320C>T (p.Gln1774Ter)
c.4930C>T (p.Gln1644Ter)
c.4789C>T (p.Gln1597Ter)
c.5221C>T (p.Gln1741Ter)
 ClinVar dbSNP
8g.41668509G>CCA371051978ANK1c.5275C>G (p.Gln1759Glu)
c.5371C>G (p.Gln1791Glu)
c.5188C>G (p.Gln1730Glu)
c.5152C>G (p.Gln1718Glu)
c.1166C>G
c.724C>G
c.2630C>G
n.2546C>G
c.4666C>G (p.Gln1556Glu)
c.5416C>G (p.Gln1806Glu)
c.5317C>G (p.Gln1773Glu)
c.5251C>G (p.Gln1751Glu)
c.5233C>G (p.Gln1745Glu)
c.4885C>G (p.Gln1629Glu)
c.4765C>G (p.Gln1589Glu)
c.4976C>G (p.Thr1659Arg)
n.5007C>G
c.5392C>G (p.Gln1798Glu)
c.5329C>G (p.Gln1777Glu)
c.5320C>G (p.Gln1774Glu)
c.4930C>G (p.Gln1644Glu)
c.4789C>G (p.Gln1597Glu)
c.5221C>G (p.Gln1741Glu)
8g.41668509G=CA1779071334ANK1c.5275C= (p.Gln1759=)
c.5371C= (p.Gln1791=)
c.5188C= (p.Gln1730=)
c.5152C= (p.Gln1718=)
c.1166C=
c.724C=
c.2630C=
n.2546C=
c.4666C= (p.Gln1556=)
c.5416C= (p.Gln1806=)
c.5317C= (p.Gln1773=)
c.5251C= (p.Gln1751=)
c.5233C= (p.Gln1745=)
c.4885C= (p.Gln1629=)
c.4765C= (p.Gln1589=)
c.4976C= (p.Thr1659=)
n.5007C=
c.5392C= (p.Gln1798=)
c.5329C= (p.Gln1777=)
c.5320C= (p.Gln1774=)
c.4930C= (p.Gln1644=)
c.4789C= (p.Gln1597=)
c.5221C= (p.Gln1741=)
8g.41668509G>TCA371051981ANK1c.5275C>A (p.Gln1759Lys)
c.5371C>A (p.Gln1791Lys)
c.5188C>A (p.Gln1730Lys)
c.5152C>A (p.Gln1718Lys)
c.1166C>A
c.724C>A
c.2630C>A
n.2546C>A
c.4666C>A (p.Gln1556Lys)
c.5416C>A (p.Gln1806Lys)
c.5317C>A (p.Gln1773Lys)
c.5251C>A (p.Gln1751Lys)
c.5233C>A (p.Gln1745Lys)
c.4885C>A (p.Gln1629Lys)
c.4765C>A (p.Gln1589Lys)
c.4976C>A (p.Thr1659Lys)
n.5007C>A
c.5392C>A (p.Gln1798Lys)
c.5329C>A (p.Gln1777Lys)
c.5320C>A (p.Gln1774Lys)
c.4930C>A (p.Gln1644Lys)
c.4789C>A (p.Gln1597Lys)
c.5221C>A (p.Gln1741Lys)
8g.41668510T>ACA460782105ANK1c.5274A>T (p.Ala1758=)
c.5370A>T (p.Ala1790=)
c.5187A>T (p.Ala1729=)
c.5151A>T (p.Ala1717=)
c.1165A>T
c.723A>T
c.2629A>T
n.2545A>T
c.4665A>T (p.Ala1555=)
c.5415A>T (p.Ala1805=)
c.5316A>T (p.Ala1772=)
c.5250A>T (p.Ala1750=)
c.5232A>T (p.Ala1744=)
c.4884A>T (p.Ala1628=)
c.4764A>T (p.Ala1588=)
c.4975A>T (p.Thr1659Ser)
n.5006A>T
c.5391A>T (p.Ala1797=)
c.5328A>T (p.Ala1776=)
c.5319A>T (p.Ala1773=)
c.4929A>T (p.Ala1643=)
c.4788A>T (p.Ala1596=)
c.5220A>T (p.Ala1740=)
8g.41668510T>CCA460782106ANK1c.5274A>G (p.Ala1758=)
c.5370A>G (p.Ala1790=)
c.5187A>G (p.Ala1729=)
c.5151A>G (p.Ala1717=)
c.1165A>G
c.723A>G
c.2629A>G
n.2545A>G
c.4665A>G (p.Ala1555=)
c.5415A>G (p.Ala1805=)
c.5316A>G (p.Ala1772=)
c.5250A>G (p.Ala1750=)
c.5232A>G (p.Ala1744=)
c.4884A>G (p.Ala1628=)
c.4764A>G (p.Ala1588=)
c.4975A>G (p.Thr1659Ala)
n.5006A>G
c.5391A>G (p.Ala1797=)
c.5328A>G (p.Ala1776=)
c.5319A>G (p.Ala1773=)
c.4929A>G (p.Ala1643=)
c.4788A>G (p.Ala1596=)
c.5220A>G (p.Ala1740=)
8g.41668510T>GCA460782107ANK1c.5274A>C (p.Ala1758=)
c.5370A>C (p.Ala1790=)
c.5187A>C (p.Ala1729=)
c.5151A>C (p.Ala1717=)
c.1165A>C
c.723A>C
c.2629A>C
n.2545A>C
c.4665A>C (p.Ala1555=)
c.5415A>C (p.Ala1805=)
c.5316A>C (p.Ala1772=)
c.5250A>C (p.Ala1750=)
c.5232A>C (p.Ala1744=)
c.4884A>C (p.Ala1628=)
c.4764A>C (p.Ala1588=)
c.4975A>C (p.Thr1659Pro)
n.5006A>C
c.5391A>C (p.Ala1797=)
c.5328A>C (p.Ala1776=)
c.5319A>C (p.Ala1773=)
c.4929A>C (p.Ala1643=)
c.4788A>C (p.Ala1596=)
c.5220A>C (p.Ala1740=)

Number of alleles fetched