Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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=)
8g.41668511G>ACA371051982ANK1c.5273C>T (p.Ala1758Val)
c.5369C>T (p.Ala1790Val)
c.5186C>T (p.Ala1729Val)
c.5150C>T (p.Ala1717Val)
c.1164C>T
c.722C>T
c.2628C>T
n.2544C>T
c.4664C>T (p.Ala1555Val)
c.5414C>T (p.Ala1805Val)
c.5315C>T (p.Ala1772Val)
c.5249C>T (p.Ala1750Val)
c.5231C>T (p.Ala1744Val)
c.4883C>T (p.Ala1628Val)
c.4763C>T (p.Ala1588Val)
c.4974C>T (p.Cys1658=)
n.5005C>T
c.5390C>T (p.Ala1797Val)
c.5327C>T (p.Ala1776Val)
c.5318C>T (p.Ala1773Val)
c.4928C>T (p.Ala1643Val)
c.4787C>T (p.Ala1596Val)
c.5219C>T (p.Ala1740Val)
8g.41668511G>CCA371051983ANK1c.5273C>G (p.Ala1758Gly)
c.5369C>G (p.Ala1790Gly)
c.5186C>G (p.Ala1729Gly)
c.5150C>G (p.Ala1717Gly)
c.1164C>G
c.722C>G
c.2628C>G
n.2544C>G
c.4664C>G (p.Ala1555Gly)
c.5414C>G (p.Ala1805Gly)
c.5315C>G (p.Ala1772Gly)
c.5249C>G (p.Ala1750Gly)
c.5231C>G (p.Ala1744Gly)
c.4883C>G (p.Ala1628Gly)
c.4763C>G (p.Ala1588Gly)
c.4974C>G (p.Cys1658Trp)
n.5005C>G
c.5390C>G (p.Ala1797Gly)
c.5327C>G (p.Ala1776Gly)
c.5318C>G (p.Ala1773Gly)
c.4928C>G (p.Ala1643Gly)
c.4787C>G (p.Ala1596Gly)
c.5219C>G (p.Ala1740Gly)
 gnomAD v4
8g.41668511G>TCA371051984ANK1c.5273C>A (p.Ala1758Glu)
c.5369C>A (p.Ala1790Glu)
c.5186C>A (p.Ala1729Glu)
c.5150C>A (p.Ala1717Glu)
c.1164C>A
c.722C>A
c.2628C>A
n.2544C>A
c.4664C>A (p.Ala1555Glu)
c.5414C>A (p.Ala1805Glu)
c.5315C>A (p.Ala1772Glu)
c.5249C>A (p.Ala1750Glu)
c.5231C>A (p.Ala1744Glu)
c.4883C>A (p.Ala1628Glu)
c.4763C>A (p.Ala1588Glu)
c.4974C>A (p.Cys1658Ter)
n.5005C>A
c.5390C>A (p.Ala1797Glu)
c.5327C>A (p.Ala1776Glu)
c.5318C>A (p.Ala1773Glu)
c.4928C>A (p.Ala1643Glu)
c.4787C>A (p.Ala1596Glu)
c.5219C>A (p.Ala1740Glu)
8g.41668512C>ACA371051988ANK1c.5272G>T (p.Ala1758Ser)
c.5368G>T (p.Ala1790Ser)
c.5185G>T (p.Ala1729Ser)
c.5149G>T (p.Ala1717Ser)
c.1163G>T
c.721G>T
c.2627G>T
n.2543G>T
c.4663G>T (p.Ala1555Ser)
c.5413G>T (p.Ala1805Ser)
c.5314G>T (p.Ala1772Ser)
c.5248G>T (p.Ala1750Ser)
c.5230G>T (p.Ala1744Ser)
c.4882G>T (p.Ala1628Ser)
c.4762G>T (p.Ala1588Ser)
c.4973G>T (p.Cys1658Phe)
n.5004G>T
c.5389G>T (p.Ala1797Ser)
c.5326G>T (p.Ala1776Ser)
c.5317G>T (p.Ala1773Ser)
c.4927G>T (p.Ala1643Ser)
c.4786G>T (p.Ala1596Ser)
c.5218G>T (p.Ala1740Ser)
8g.41668512C>GCA371051991ANK1c.5272G>C (p.Ala1758Pro)
c.5368G>C (p.Ala1790Pro)
c.5185G>C (p.Ala1729Pro)
c.5149G>C (p.Ala1717Pro)
c.1163G>C
c.721G>C
c.2627G>C
n.2543G>C
c.4663G>C (p.Ala1555Pro)
c.5413G>C (p.Ala1805Pro)
c.5314G>C (p.Ala1772Pro)
c.5248G>C (p.Ala1750Pro)
c.5230G>C (p.Ala1744Pro)
c.4882G>C (p.Ala1628Pro)
c.4762G>C (p.Ala1588Pro)
c.4973G>C (p.Cys1658Ser)
n.5004G>C
c.5389G>C (p.Ala1797Pro)
c.5326G>C (p.Ala1776Pro)
c.5317G>C (p.Ala1773Pro)
c.4927G>C (p.Ala1643Pro)
c.4786G>C (p.Ala1596Pro)
c.5218G>C (p.Ala1740Pro)
8g.41668512C>TCA371051994ANK1c.5272G>A (p.Ala1758Thr)
c.5368G>A (p.Ala1790Thr)
c.5185G>A (p.Ala1729Thr)
c.5149G>A (p.Ala1717Thr)
c.1163G>A
c.721G>A
c.2627G>A
n.2543G>A
c.4663G>A (p.Ala1555Thr)
c.5413G>A (p.Ala1805Thr)
c.5314G>A (p.Ala1772Thr)
c.5248G>A (p.Ala1750Thr)
c.5230G>A (p.Ala1744Thr)
c.4882G>A (p.Ala1628Thr)
c.4762G>A (p.Ala1588Thr)
c.4973G>A (p.Cys1658Tyr)
n.5004G>A
c.5389G>A (p.Ala1797Thr)
c.5326G>A (p.Ala1776Thr)
c.5317G>A (p.Ala1773Thr)
c.4927G>A (p.Ala1643Thr)
c.4786G>A (p.Ala1596Thr)
c.5218G>A (p.Ala1740Thr)
8g.41668513A>CCA460782108ANK1c.5271T>G (p.Ala1757=)
c.5367T>G (p.Ala1789=)
c.5184T>G (p.Ala1728=)
c.5148T>G (p.Ala1716=)
c.1162T>G
c.720T>G
c.2626T>G
n.2542T>G
c.4662T>G (p.Ala1554=)
c.5412T>G (p.Ala1804=)
c.5313T>G (p.Ala1771=)
c.5247T>G (p.Ala1749=)
c.5229T>G (p.Ala1743=)
c.4881T>G (p.Ala1627=)
c.4761T>G (p.Ala1587=)
c.4972T>G (p.Cys1658Gly)
n.5003T>G
c.5388T>G (p.Ala1796=)
c.5325T>G (p.Ala1775=)
c.5316T>G (p.Ala1772=)
c.4926T>G (p.Ala1642=)
c.4785T>G (p.Ala1595=)
c.5217T>G (p.Ala1739=)
8g.41668513A>GCA460782109ANK1c.5271T>C (p.Ala1757=)
c.5367T>C (p.Ala1789=)
c.5184T>C (p.Ala1728=)
c.5148T>C (p.Ala1716=)
c.1162T>C
c.720T>C
c.2626T>C
n.2542T>C
c.4662T>C (p.Ala1554=)
c.5412T>C (p.Ala1804=)
c.5313T>C (p.Ala1771=)
c.5247T>C (p.Ala1749=)
c.5229T>C (p.Ala1743=)
c.4881T>C (p.Ala1627=)
c.4761T>C (p.Ala1587=)
c.4972T>C (p.Cys1658Arg)
n.5003T>C
c.5388T>C (p.Ala1796=)
c.5325T>C (p.Ala1775=)
c.5316T>C (p.Ala1772=)
c.4926T>C (p.Ala1642=)
c.4785T>C (p.Ala1595=)
c.5217T>C (p.Ala1739=)
8g.41668513A>TCA460782110ANK1c.5271T>A (p.Ala1757=)
c.5367T>A (p.Ala1789=)
c.5184T>A (p.Ala1728=)
c.5148T>A (p.Ala1716=)
c.1162T>A
c.720T>A
c.2626T>A
n.2542T>A
c.4662T>A (p.Ala1554=)
c.5412T>A (p.Ala1804=)
c.5313T>A (p.Ala1771=)
c.5247T>A (p.Ala1749=)
c.5229T>A (p.Ala1743=)
c.4881T>A (p.Ala1627=)
c.4761T>A (p.Ala1587=)
c.4972T>A (p.Cys1658Ser)
n.5003T>A
c.5388T>A (p.Ala1796=)
c.5325T>A (p.Ala1775=)
c.5316T>A (p.Ala1772=)
c.4926T>A (p.Ala1642=)
c.4785T>A (p.Ala1595=)
c.5217T>A (p.Ala1739=)
8g.41668514G>ACA371052001ANK1c.5270C>T (p.Ala1757Val)
c.5366C>T (p.Ala1789Val)
c.5183C>T (p.Ala1728Val)
c.5147C>T (p.Ala1716Val)
c.1161C>T
c.719C>T
c.2625C>T
n.2541C>T
c.4661C>T (p.Ala1554Val)
c.5411C>T (p.Ala1804Val)
c.5312C>T (p.Ala1771Val)
c.5246C>T (p.Ala1749Val)
c.5228C>T (p.Ala1743Val)
c.4880C>T (p.Ala1627Val)
c.4760C>T (p.Ala1587Val)
c.4971C>T (p.Cys1657=)
n.5002C>T
c.5387C>T (p.Ala1796Val)
c.5324C>T (p.Ala1775Val)
c.5315C>T (p.Ala1772Val)
c.4925C>T (p.Ala1642Val)
c.4784C>T (p.Ala1595Val)
c.5216C>T (p.Ala1739Val)
 gnomAD v4
8g.41668514G>CCA371052003ANK1c.5270C>G (p.Ala1757Gly)
c.5366C>G (p.Ala1789Gly)
c.5183C>G (p.Ala1728Gly)
c.5147C>G (p.Ala1716Gly)
c.1161C>G
c.719C>G
c.2625C>G
n.2541C>G
c.4661C>G (p.Ala1554Gly)
c.5411C>G (p.Ala1804Gly)
c.5312C>G (p.Ala1771Gly)
c.5246C>G (p.Ala1749Gly)
c.5228C>G (p.Ala1743Gly)
c.4880C>G (p.Ala1627Gly)
c.4760C>G (p.Ala1587Gly)
c.4971C>G (p.Cys1657Trp)
n.5002C>G
c.5387C>G (p.Ala1796Gly)
c.5324C>G (p.Ala1775Gly)
c.5315C>G (p.Ala1772Gly)
c.4925C>G (p.Ala1642Gly)
c.4784C>G (p.Ala1595Gly)
c.5216C>G (p.Ala1739Gly)
8g.41668514G>TCA371051997ANK1c.5270C>A (p.Ala1757Asp)
c.5366C>A (p.Ala1789Asp)
c.5183C>A (p.Ala1728Asp)
c.5147C>A (p.Ala1716Asp)
c.1161C>A
c.719C>A
c.2625C>A
n.2541C>A
c.4661C>A (p.Ala1554Asp)
c.5411C>A (p.Ala1804Asp)
c.5312C>A (p.Ala1771Asp)
c.5246C>A (p.Ala1749Asp)
c.5228C>A (p.Ala1743Asp)
c.4880C>A (p.Ala1627Asp)
c.4760C>A (p.Ala1587Asp)
c.4971C>A (p.Cys1657Ter)
n.5002C>A
c.5387C>A (p.Ala1796Asp)
c.5324C>A (p.Ala1775Asp)
c.5315C>A (p.Ala1772Asp)
c.4925C>A (p.Ala1642Asp)
c.4784C>A (p.Ala1595Asp)
c.5216C>A (p.Ala1739Asp)
8g.41668515C>ACA371052007ANK1c.5269G>T (p.Ala1757Ser)
c.5365G>T (p.Ala1789Ser)
c.5182G>T (p.Ala1728Ser)
c.5146G>T (p.Ala1716Ser)
c.1160G>T
c.718G>T
c.2624G>T
n.2540G>T
c.4660G>T (p.Ala1554Ser)
c.5410G>T (p.Ala1804Ser)
c.5311G>T (p.Ala1771Ser)
c.5245G>T (p.Ala1749Ser)
c.5227G>T (p.Ala1743Ser)
c.4879G>T (p.Ala1627Ser)
c.4759G>T (p.Ala1587Ser)
c.4970G>T (p.Cys1657Phe)
n.5001G>T
c.5386G>T (p.Ala1796Ser)
c.5323G>T (p.Ala1775Ser)
c.5314G>T (p.Ala1772Ser)
c.4924G>T (p.Ala1642Ser)
c.4783G>T (p.Ala1595Ser)
c.5215G>T (p.Ala1739Ser)
 gnomAD v4
8g.41668515C>GCA371052005ANK1c.5269G>C (p.Ala1757Pro)
c.5365G>C (p.Ala1789Pro)
c.5182G>C (p.Ala1728Pro)
c.5146G>C (p.Ala1716Pro)
c.1160G>C
c.718G>C
c.2624G>C
n.2540G>C
c.4660G>C (p.Ala1554Pro)
c.5410G>C (p.Ala1804Pro)
c.5311G>C (p.Ala1771Pro)
c.5245G>C (p.Ala1749Pro)
c.5227G>C (p.Ala1743Pro)
c.4879G>C (p.Ala1627Pro)
c.4759G>C (p.Ala1587Pro)
c.4970G>C (p.Cys1657Ser)
n.5001G>C
c.5386G>C (p.Ala1796Pro)
c.5323G>C (p.Ala1775Pro)
c.5314G>C (p.Ala1772Pro)
c.4924G>C (p.Ala1642Pro)
c.4783G>C (p.Ala1595Pro)
c.5215G>C (p.Ala1739Pro)
8g.41668515C>TCA371052006ANK1c.5269G>A (p.Ala1757Thr)
c.5365G>A (p.Ala1789Thr)
c.5182G>A (p.Ala1728Thr)
c.5146G>A (p.Ala1716Thr)
c.1160G>A
c.718G>A
c.2624G>A
n.2540G>A
c.4660G>A (p.Ala1554Thr)
c.5410G>A (p.Ala1804Thr)
c.5311G>A (p.Ala1771Thr)
c.5245G>A (p.Ala1749Thr)
c.5227G>A (p.Ala1743Thr)
c.4879G>A (p.Ala1627Thr)
c.4759G>A (p.Ala1587Thr)
c.4970G>A (p.Cys1657Tyr)
n.5001G>A
c.5386G>A (p.Ala1796Thr)
c.5323G>A (p.Ala1775Thr)
c.5314G>A (p.Ala1772Thr)
c.4924G>A (p.Ala1642Thr)
c.4783G>A (p.Ala1595Thr)
c.5215G>A (p.Ala1739Thr)
 gnomAD v4
8g.41668516A=CA1779071339ANK1c.5268T= (p.Asp1756=)
c.5364T= (p.Asp1788=)
c.5181T= (p.Asp1727=)
c.5145T= (p.Asp1715=)
c.1159T=
c.717T=
c.2623T=
n.2539T=
c.4659T= (p.Asp1553=)
c.5409T= (p.Asp1803=)
c.5310T= (p.Asp1770=)
c.5244T= (p.Asp1748=)
c.5226T= (p.Asp1742=)
c.4878T= (p.Asp1626=)
c.4758T= (p.Asp1586=)
c.4969T= (p.Cys1657=)
n.5000T=
c.5385T= (p.Asp1795=)
c.5322T= (p.Asp1774=)
c.5313T= (p.Asp1771=)
c.4923T= (p.Asp1641=)
c.4782T= (p.Asp1594=)
c.5214T= (p.Asp1738=)
8g.41668516A>CCA371052008ANK1c.5268T>G (p.Asp1756Glu)
c.5364T>G (p.Asp1788Glu)
c.5181T>G (p.Asp1727Glu)
c.5145T>G (p.Asp1715Glu)
c.1159T>G
c.717T>G
c.2623T>G
n.2539T>G
c.4659T>G (p.Asp1553Glu)
c.5409T>G (p.Asp1803Glu)
c.5310T>G (p.Asp1770Glu)
c.5244T>G (p.Asp1748Glu)
c.5226T>G (p.Asp1742Glu)
c.4878T>G (p.Asp1626Glu)
c.4758T>G (p.Asp1586Glu)
c.4969T>G (p.Cys1657Gly)
n.5000T>G
c.5385T>G (p.Asp1795Glu)
c.5322T>G (p.Asp1774Glu)
c.5313T>G (p.Asp1771Glu)
c.4923T>G (p.Asp1641Glu)
c.4782T>G (p.Asp1594Glu)
c.5214T>G (p.Asp1738Glu)
8g.41668516A>GCA460782111ANK1c.5268T>C (p.Asp1756=)
c.5364T>C (p.Asp1788=)
c.5181T>C (p.Asp1727=)
c.5145T>C (p.Asp1715=)
c.1159T>C
c.717T>C
c.2623T>C
n.2539T>C
c.4659T>C (p.Asp1553=)
c.5409T>C (p.Asp1803=)
c.5310T>C (p.Asp1770=)
c.5244T>C (p.Asp1748=)
c.5226T>C (p.Asp1742=)
c.4878T>C (p.Asp1626=)
c.4758T>C (p.Asp1586=)
c.4969T>C (p.Cys1657Arg)
n.5000T>C
c.5385T>C (p.Asp1795=)
c.5322T>C (p.Asp1774=)
c.5313T>C (p.Asp1771=)
c.4923T>C (p.Asp1641=)
c.4782T>C (p.Asp1594=)
c.5214T>C (p.Asp1738=)
 ClinVar dbSNP gnomAD v4
8g.41668516A>TCA371052009ANK1c.5268T>A (p.Asp1756Glu)
c.5364T>A (p.Asp1788Glu)
c.5181T>A (p.Asp1727Glu)
c.5145T>A (p.Asp1715Glu)
c.1159T>A
c.717T>A
c.2623T>A
n.2539T>A
c.4659T>A (p.Asp1553Glu)
c.5409T>A (p.Asp1803Glu)
c.5310T>A (p.Asp1770Glu)
c.5244T>A (p.Asp1748Glu)
c.5226T>A (p.Asp1742Glu)
c.4878T>A (p.Asp1626Glu)
c.4758T>A (p.Asp1586Glu)
c.4969T>A (p.Cys1657Ser)
n.5000T>A
c.5385T>A (p.Asp1795Glu)
c.5322T>A (p.Asp1774Glu)
c.5313T>A (p.Asp1771Glu)
c.4923T>A (p.Asp1641Glu)
c.4782T>A (p.Asp1594Glu)
c.5214T>A (p.Asp1738Glu)
8g.41668517T>ACA371052011ANK1c.5267A>T (p.Asp1756Val)
c.5363A>T (p.Asp1788Val)
c.5180A>T (p.Asp1727Val)
c.5144A>T (p.Asp1715Val)
c.1158A>T
c.716A>T
c.2622A>T
n.2538A>T
c.4658A>T (p.Asp1553Val)
c.5408A>T (p.Asp1803Val)
c.5309A>T (p.Asp1770Val)
c.5243A>T (p.Asp1748Val)
c.5225A>T (p.Asp1742Val)
c.4877A>T (p.Asp1626Val)
c.4757A>T (p.Asp1586Val)
c.4968A>T (p.Arg1656Ser)
n.4999A>T
c.5384A>T (p.Asp1795Val)
c.5321A>T (p.Asp1774Val)
c.5312A>T (p.Asp1771Val)
c.4922A>T (p.Asp1641Val)
c.4781A>T (p.Asp1594Val)
c.5213A>T (p.Asp1738Val)
8g.41668517T>CCA371052014ANK1c.5267A>G (p.Asp1756Gly)
c.5363A>G (p.Asp1788Gly)
c.5180A>G (p.Asp1727Gly)
c.5144A>G (p.Asp1715Gly)
c.1158A>G
c.716A>G
c.2622A>G
n.2538A>G
c.4658A>G (p.Asp1553Gly)
c.5408A>G (p.Asp1803Gly)
c.5309A>G (p.Asp1770Gly)
c.5243A>G (p.Asp1748Gly)
c.5225A>G (p.Asp1742Gly)
c.4877A>G (p.Asp1626Gly)
c.4757A>G (p.Asp1586Gly)
c.4968A>G (p.Arg1656=)
n.4999A>G
c.5384A>G (p.Asp1795Gly)
c.5321A>G (p.Asp1774Gly)
c.5312A>G (p.Asp1771Gly)
c.4922A>G (p.Asp1641Gly)
c.4781A>G (p.Asp1594Gly)
c.5213A>G (p.Asp1738Gly)
8g.41668517T>GCA371052016ANK1c.5267A>C (p.Asp1756Ala)
c.5363A>C (p.Asp1788Ala)
c.5180A>C (p.Asp1727Ala)
c.5144A>C (p.Asp1715Ala)
c.1158A>C
c.716A>C
c.2622A>C
n.2538A>C
c.4658A>C (p.Asp1553Ala)
c.5408A>C (p.Asp1803Ala)
c.5309A>C (p.Asp1770Ala)
c.5243A>C (p.Asp1748Ala)
c.5225A>C (p.Asp1742Ala)
c.4877A>C (p.Asp1626Ala)
c.4757A>C (p.Asp1586Ala)
c.4968A>C (p.Arg1656Ser)
n.4999A>C
c.5384A>C (p.Asp1795Ala)
c.5321A>C (p.Asp1774Ala)
c.5312A>C (p.Asp1771Ala)
c.4922A>C (p.Asp1641Ala)
c.4781A>C (p.Asp1594Ala)
c.5213A>C (p.Asp1738Ala)
8g.41668518C>ACA371052020ANK1c.5266G>T (p.Asp1756Tyr)
c.5362G>T (p.Asp1788Tyr)
c.5179G>T (p.Asp1727Tyr)
c.5143G>T (p.Asp1715Tyr)
c.1157G>T
c.715G>T
c.2621G>T
n.2537G>T
c.4657G>T (p.Asp1553Tyr)
c.5407G>T (p.Asp1803Tyr)
c.5308G>T (p.Asp1770Tyr)
c.5242G>T (p.Asp1748Tyr)
c.5224G>T (p.Asp1742Tyr)
c.4876G>T (p.Asp1626Tyr)
c.4756G>T (p.Asp1586Tyr)
c.4967G>T (p.Arg1656Ile)
n.4998G>T
c.5383G>T (p.Asp1795Tyr)
c.5320G>T (p.Asp1774Tyr)
c.5311G>T (p.Asp1771Tyr)
c.4921G>T (p.Asp1641Tyr)
c.4780G>T (p.Asp1594Tyr)
c.5212G>T (p.Asp1738Tyr)
8g.41668518C>GCA371052022ANK1c.5266G>C (p.Asp1756His)
c.5362G>C (p.Asp1788His)
c.5179G>C (p.Asp1727His)
c.5143G>C (p.Asp1715His)
c.1157G>C
c.715G>C
c.2621G>C
n.2537G>C
c.4657G>C (p.Asp1553His)
c.5407G>C (p.Asp1803His)
c.5308G>C (p.Asp1770His)
c.5242G>C (p.Asp1748His)
c.5224G>C (p.Asp1742His)
c.4876G>C (p.Asp1626His)
c.4756G>C (p.Asp1586His)
c.4967G>C (p.Arg1656Thr)
n.4998G>C
c.5383G>C (p.Asp1795His)
c.5320G>C (p.Asp1774His)
c.5311G>C (p.Asp1771His)
c.4921G>C (p.Asp1641His)
c.4780G>C (p.Asp1594His)
c.5212G>C (p.Asp1738His)
8g.41668518C>TCA371052024ANK1c.5266G>A (p.Asp1756Asn)
c.5362G>A (p.Asp1788Asn)
c.5179G>A (p.Asp1727Asn)
c.5143G>A (p.Asp1715Asn)
c.1157G>A
c.715G>A
c.2621G>A
n.2537G>A
c.4657G>A (p.Asp1553Asn)
c.5407G>A (p.Asp1803Asn)
c.5308G>A (p.Asp1770Asn)
c.5242G>A (p.Asp1748Asn)
c.5224G>A (p.Asp1742Asn)
c.4876G>A (p.Asp1626Asn)
c.4756G>A (p.Asp1586Asn)
c.4967G>A (p.Arg1656Lys)
n.4998G>A
c.5383G>A (p.Asp1795Asn)
c.5320G>A (p.Asp1774Asn)
c.5311G>A (p.Asp1771Asn)
c.4921G>A (p.Asp1641Asn)
c.4780G>A (p.Asp1594Asn)
c.5212G>A (p.Asp1738Asn)
8g.41668519T>ACA371052026ANK1c.5265A>T (p.Gln1755His)
c.5361A>T (p.Gln1787His)
c.5178A>T (p.Gln1726His)
c.5142A>T (p.Gln1714His)
c.1156A>T
c.714A>T
c.2620A>T
n.2536A>T
c.4656A>T (p.Gln1552His)
c.5406A>T (p.Gln1802His)
c.5307A>T (p.Gln1769His)
c.5241A>T (p.Gln1747His)
c.5223A>T (p.Gln1741His)
c.4875A>T (p.Gln1625His)
c.4755A>T (p.Gln1585His)
c.4966A>T (p.Arg1656Ter)
n.4997A>T
c.5382A>T (p.Gln1794His)
c.5319A>T (p.Gln1773His)
c.5310A>T (p.Gln1770His)
c.4920A>T (p.Gln1640His)
c.4779A>T (p.Gln1593His)
c.5211A>T (p.Gln1737His)
8g.41668519T>CCA460782112ANK1c.5265A>G (p.Gln1755=)
c.5361A>G (p.Gln1787=)
c.5178A>G (p.Gln1726=)
c.5142A>G (p.Gln1714=)
c.1156A>G
c.714A>G
c.2620A>G
n.2536A>G
c.4656A>G (p.Gln1552=)
c.5406A>G (p.Gln1802=)
c.5307A>G (p.Gln1769=)
c.5241A>G (p.Gln1747=)
c.5223A>G (p.Gln1741=)
c.4875A>G (p.Gln1625=)
c.4755A>G (p.Gln1585=)
c.4966A>G (p.Arg1656Gly)
n.4997A>G
c.5382A>G (p.Gln1794=)
c.5319A>G (p.Gln1773=)
c.5310A>G (p.Gln1770=)
c.4920A>G (p.Gln1640=)
c.4779A>G (p.Gln1593=)
c.5211A>G (p.Gln1737=)
8g.41668519T>GCA371052030ANK1c.5265A>C (p.Gln1755His)
c.5361A>C (p.Gln1787His)
c.5178A>C (p.Gln1726His)
c.5142A>C (p.Gln1714His)
c.1156A>C
c.714A>C
c.2620A>C
n.2536A>C
c.4656A>C (p.Gln1552His)
c.5406A>C (p.Gln1802His)
c.5307A>C (p.Gln1769His)
c.5241A>C (p.Gln1747His)
c.5223A>C (p.Gln1741His)
c.4875A>C (p.Gln1625His)
c.4755A>C (p.Gln1585His)
c.4966A>C (p.Arg1656=)
n.4997A>C
c.5382A>C (p.Gln1794His)
c.5319A>C (p.Gln1773His)
c.5310A>C (p.Gln1770His)
c.4920A>C (p.Gln1640His)
c.4779A>C (p.Gln1593His)
c.5211A>C (p.Gln1737His)
8g.41668520T>ACA371052032ANK1c.5264A>T (p.Gln1755Leu)
c.5360A>T (p.Gln1787Leu)
c.5177A>T (p.Gln1726Leu)
c.5141A>T (p.Gln1714Leu)
c.1155A>T
c.713A>T
c.2619A>T
n.2535A>T
c.4655A>T (p.Gln1552Leu)
c.5405A>T (p.Gln1802Leu)
c.5306A>T (p.Gln1769Leu)
c.5240A>T (p.Gln1747Leu)
c.5222A>T (p.Gln1741Leu)
c.4874A>T (p.Gln1625Leu)
c.4754A>T (p.Gln1585Leu)
c.4965A>T (p.Ala1655=)
n.4996A>T
c.5381A>T (p.Gln1794Leu)
c.5318A>T (p.Gln1773Leu)
c.5309A>T (p.Gln1770Leu)
c.4919A>T (p.Gln1640Leu)
c.4778A>T (p.Gln1593Leu)
c.5210A>T (p.Gln1737Leu)
8g.41668520T>CCA371052033ANK1c.5264A>G (p.Gln1755Arg)
c.5360A>G (p.Gln1787Arg)
c.5177A>G (p.Gln1726Arg)
c.5141A>G (p.Gln1714Arg)
c.1155A>G
c.713A>G
c.2619A>G
n.2535A>G
c.4655A>G (p.Gln1552Arg)
c.5405A>G (p.Gln1802Arg)
c.5306A>G (p.Gln1769Arg)
c.5240A>G (p.Gln1747Arg)
c.5222A>G (p.Gln1741Arg)
c.4874A>G (p.Gln1625Arg)
c.4754A>G (p.Gln1585Arg)
c.4965A>G (p.Ala1655=)
n.4996A>G
c.5381A>G (p.Gln1794Arg)
c.5318A>G (p.Gln1773Arg)
c.5309A>G (p.Gln1770Arg)
c.4919A>G (p.Gln1640Arg)
c.4778A>G (p.Gln1593Arg)
c.5210A>G (p.Gln1737Arg)
8g.41668520T>GCA371052031ANK1c.5264A>C (p.Gln1755Pro)
c.5360A>C (p.Gln1787Pro)
c.5177A>C (p.Gln1726Pro)
c.5141A>C (p.Gln1714Pro)
c.1155A>C
c.713A>C
c.2619A>C
n.2535A>C
c.4655A>C (p.Gln1552Pro)
c.5405A>C (p.Gln1802Pro)
c.5306A>C (p.Gln1769Pro)
c.5240A>C (p.Gln1747Pro)
c.5222A>C (p.Gln1741Pro)
c.4874A>C (p.Gln1625Pro)
c.4754A>C (p.Gln1585Pro)
c.4965A>C (p.Ala1655=)
n.4996A>C
c.5381A>C (p.Gln1794Pro)
c.5318A>C (p.Gln1773Pro)
c.5309A>C (p.Gln1770Pro)
c.4919A>C (p.Gln1640Pro)
c.4778A>C (p.Gln1593Pro)
c.5210A>C (p.Gln1737Pro)
8g.41668521G>ACA371052035ANK1c.5263C>T (p.Gln1755Ter)
c.5359C>T (p.Gln1787Ter)
c.5176C>T (p.Gln1726Ter)
c.5140C>T (p.Gln1714Ter)
c.1154C>T
c.712C>T
c.2618C>T
n.2534C>T
c.4654C>T (p.Gln1552Ter)
c.5404C>T (p.Gln1802Ter)
c.5305C>T (p.Gln1769Ter)
c.5239C>T (p.Gln1747Ter)
c.5221C>T (p.Gln1741Ter)
c.4873C>T (p.Gln1625Ter)
c.4753C>T (p.Gln1585Ter)
c.4964C>T (p.Ala1655Val)
n.4995C>T
c.5380C>T (p.Gln1794Ter)
c.5317C>T (p.Gln1773Ter)
c.5308C>T (p.Gln1770Ter)
c.4918C>T (p.Gln1640Ter)
c.4777C>T (p.Gln1593Ter)
c.5209C>T (p.Gln1737Ter)
8g.41668521G>CCA371052037ANK1c.5263C>G (p.Gln1755Glu)
c.5359C>G (p.Gln1787Glu)
c.5176C>G (p.Gln1726Glu)
c.5140C>G (p.Gln1714Glu)
c.1154C>G
c.712C>G
c.2618C>G
n.2534C>G
c.4654C>G (p.Gln1552Glu)
c.5404C>G (p.Gln1802Glu)
c.5305C>G (p.Gln1769Glu)
c.5239C>G (p.Gln1747Glu)
c.5221C>G (p.Gln1741Glu)
c.4873C>G (p.Gln1625Glu)
c.4753C>G (p.Gln1585Glu)
c.4964C>G (p.Ala1655Gly)
n.4995C>G
c.5380C>G (p.Gln1794Glu)
c.5317C>G (p.Gln1773Glu)
c.5308C>G (p.Gln1770Glu)
c.4918C>G (p.Gln1640Glu)
c.4777C>G (p.Gln1593Glu)
c.5209C>G (p.Gln1737Glu)
8g.41668521G>TCA371052038ANK1c.5263C>A (p.Gln1755Lys)
c.5359C>A (p.Gln1787Lys)
c.5176C>A (p.Gln1726Lys)
c.5140C>A (p.Gln1714Lys)
c.1154C>A
c.712C>A
c.2618C>A
n.2534C>A
c.4654C>A (p.Gln1552Lys)
c.5404C>A (p.Gln1802Lys)
c.5305C>A (p.Gln1769Lys)
c.5239C>A (p.Gln1747Lys)
c.5221C>A (p.Gln1741Lys)
c.4873C>A (p.Gln1625Lys)
c.4753C>A (p.Gln1585Lys)
c.4964C>A (p.Ala1655Glu)
n.4995C>A
c.5380C>A (p.Gln1794Lys)
c.5317C>A (p.Gln1773Lys)
c.5308C>A (p.Gln1770Lys)
c.4918C>A (p.Gln1640Lys)
c.4777C>A (p.Gln1593Lys)
c.5209C>A (p.Gln1737Lys)
8g.41668522C>ACA460782113ANK1c.5262G>T (p.Leu1754=)
c.5358G>T (p.Leu1786=)
c.5175G>T (p.Leu1725=)
c.5139G>T (p.Leu1713=)
c.1153G>T
c.711G>T
c.2617G>T
n.2533G>T
c.4653G>T (p.Leu1551=)
c.5403G>T (p.Leu1801=)
c.5304G>T (p.Leu1768=)
c.5238G>T (p.Leu1746=)
c.5220G>T (p.Leu1740=)
c.4872G>T (p.Leu1624=)
c.4752G>T (p.Leu1584=)
c.4963G>T (p.Ala1655Ser)
n.4994G>T
c.5379G>T (p.Leu1793=)
c.5316G>T (p.Leu1772=)
c.5307G>T (p.Leu1769=)
c.4917G>T (p.Leu1639=)
c.4776G>T (p.Leu1592=)
c.5208G>T (p.Leu1736=)
8g.41668522C=CA1779071342ANK1c.5262G= (p.Leu1754=)
c.5358G= (p.Leu1786=)
c.5175G= (p.Leu1725=)
c.5139G= (p.Leu1713=)
c.1153G=
c.711G=
c.2617G=
n.2533G=
c.4653G= (p.Leu1551=)
c.5403G= (p.Leu1801=)
c.5304G= (p.Leu1768=)
c.5238G= (p.Leu1746=)
c.5220G= (p.Leu1740=)
c.4872G= (p.Leu1624=)
c.4752G= (p.Leu1584=)
c.4963G= (p.Ala1655=)
n.4994G=
c.5379G= (p.Leu1793=)
c.5316G= (p.Leu1772=)
c.5307G= (p.Leu1769=)
c.4917G= (p.Leu1639=)
c.4776G= (p.Leu1592=)
c.5208G= (p.Leu1736=)
8g.41668522C>GCA460782114ANK1c.5262G>C (p.Leu1754=)
c.5358G>C (p.Leu1786=)
c.5175G>C (p.Leu1725=)
c.5139G>C (p.Leu1713=)
c.1153G>C
c.711G>C
c.2617G>C
n.2533G>C
c.4653G>C (p.Leu1551=)
c.5403G>C (p.Leu1801=)
c.5304G>C (p.Leu1768=)
c.5238G>C (p.Leu1746=)
c.5220G>C (p.Leu1740=)
c.4872G>C (p.Leu1624=)
c.4752G>C (p.Leu1584=)
c.4963G>C (p.Ala1655Pro)
n.4994G>C
c.5379G>C (p.Leu1793=)
c.5316G>C (p.Leu1772=)
c.5307G>C (p.Leu1769=)
c.4917G>C (p.Leu1639=)
c.4776G>C (p.Leu1592=)
c.5208G>C (p.Leu1736=)
 dbSNP
8g.41668522C>TCA175914387ANK1c.5262G>A (p.Leu1754=)
c.5358G>A (p.Leu1786=)
c.5175G>A (p.Leu1725=)
c.5139G>A (p.Leu1713=)
c.1153G>A
c.711G>A
c.2617G>A
n.2533G>A
c.4653G>A (p.Leu1551=)
c.5403G>A (p.Leu1801=)
c.5304G>A (p.Leu1768=)
c.5238G>A (p.Leu1746=)
c.5220G>A (p.Leu1740=)
c.4872G>A (p.Leu1624=)
c.4752G>A (p.Leu1584=)
c.4963G>A (p.Ala1655Thr)
n.4994G>A
c.5379G>A (p.Leu1793=)
c.5316G>A (p.Leu1772=)
c.5307G>A (p.Leu1769=)
c.4917G>A (p.Leu1639=)
c.4776G>A (p.Leu1592=)
c.5208G>A (p.Leu1736=)
 dbSNP
8g.41668523A>CCA371052042ANK1c.5261T>G (p.Leu1754Arg)
c.5357T>G (p.Leu1786Arg)
c.5174T>G (p.Leu1725Arg)
c.5138T>G (p.Leu1713Arg)
c.1152T>G
c.710T>G
c.2616T>G
n.2532T>G
c.4652T>G (p.Leu1551Arg)
c.5402T>G (p.Leu1801Arg)
c.5303T>G (p.Leu1768Arg)
c.5237T>G (p.Leu1746Arg)
c.5219T>G (p.Leu1740Arg)
c.4871T>G (p.Leu1624Arg)
c.4751T>G (p.Leu1584Arg)
c.4962T>G (p.Pro1654=)
n.4993T>G
c.5378T>G (p.Leu1793Arg)
c.5315T>G (p.Leu1772Arg)
c.5306T>G (p.Leu1769Arg)
c.4916T>G (p.Leu1639Arg)
c.4775T>G (p.Leu1592Arg)
c.5207T>G (p.Leu1736Arg)
8g.41668523A>GCA371052044ANK1c.5261T>C (p.Leu1754Pro)
c.5357T>C (p.Leu1786Pro)
c.5174T>C (p.Leu1725Pro)
c.5138T>C (p.Leu1713Pro)
c.1152T>C
c.710T>C
c.2616T>C
n.2532T>C
c.4652T>C (p.Leu1551Pro)
c.5402T>C (p.Leu1801Pro)
c.5303T>C (p.Leu1768Pro)
c.5237T>C (p.Leu1746Pro)
c.5219T>C (p.Leu1740Pro)
c.4871T>C (p.Leu1624Pro)
c.4751T>C (p.Leu1584Pro)
c.4962T>C (p.Pro1654=)
n.4993T>C
c.5378T>C (p.Leu1793Pro)
c.5315T>C (p.Leu1772Pro)
c.5306T>C (p.Leu1769Pro)
c.4916T>C (p.Leu1639Pro)
c.4775T>C (p.Leu1592Pro)
c.5207T>C (p.Leu1736Pro)
8g.41668523A>TCA371052048ANK1c.5261T>A (p.Leu1754Gln)
c.5357T>A (p.Leu1786Gln)
c.5174T>A (p.Leu1725Gln)
c.5138T>A (p.Leu1713Gln)
c.1152T>A
c.710T>A
c.2616T>A
n.2532T>A
c.4652T>A (p.Leu1551Gln)
c.5402T>A (p.Leu1801Gln)
c.5303T>A (p.Leu1768Gln)
c.5237T>A (p.Leu1746Gln)
c.5219T>A (p.Leu1740Gln)
c.4871T>A (p.Leu1624Gln)
c.4751T>A (p.Leu1584Gln)
c.4962T>A (p.Pro1654=)
n.4993T>A
c.5378T>A (p.Leu1793Gln)
c.5315T>A (p.Leu1772Gln)
c.5306T>A (p.Leu1769Gln)
c.4916T>A (p.Leu1639Gln)
c.4775T>A (p.Leu1592Gln)
c.5207T>A (p.Leu1736Gln)
8g.41668524G>ACA460782115ANK1c.5260C>T (p.Leu1754=)
c.5356C>T (p.Leu1786=)
c.5173C>T (p.Leu1725=)
c.5137C>T (p.Leu1713=)
c.1151C>T
c.709C>T
c.2615C>T
n.2531C>T
c.4651C>T (p.Leu1551=)
c.5401C>T (p.Leu1801=)
c.5302C>T (p.Leu1768=)
c.5236C>T (p.Leu1746=)
c.5218C>T (p.Leu1740=)
c.4870C>T (p.Leu1624=)
c.4750C>T (p.Leu1584=)
c.4961C>T (p.Pro1654Leu)
n.4992C>T
c.5377C>T (p.Leu1793=)
c.5314C>T (p.Leu1772=)
c.5305C>T (p.Leu1769=)
c.4915C>T (p.Leu1639=)
c.4774C>T (p.Leu1592=)
c.5206C>T (p.Leu1736=)
 gnomAD v4
8g.41668524G>CCA175914388ANK1c.5260C>G (p.Leu1754Val)
c.5356C>G (p.Leu1786Val)
c.5173C>G (p.Leu1725Val)
c.5137C>G (p.Leu1713Val)
c.1151C>G
c.709C>G
c.2615C>G
n.2531C>G
c.4651C>G (p.Leu1551Val)
c.5401C>G (p.Leu1801Val)
c.5302C>G (p.Leu1768Val)
c.5236C>G (p.Leu1746Val)
c.5218C>G (p.Leu1740Val)
c.4870C>G (p.Leu1624Val)
c.4750C>G (p.Leu1584Val)
c.4961C>G (p.Pro1654Arg)
n.4992C>G
c.5377C>G (p.Leu1793Val)
c.5314C>G (p.Leu1772Val)
c.5305C>G (p.Leu1769Val)
c.4915C>G (p.Leu1639Val)
c.4774C>G (p.Leu1592Val)
c.5206C>G (p.Leu1736Val)
 dbSNP gnomAD v4
8g.41668524G=CA1779071344ANK1c.5260C= (p.Leu1754=)
c.5356C= (p.Leu1786=)
c.5173C= (p.Leu1725=)
c.5137C= (p.Leu1713=)
c.1151C=
c.709C=
c.2615C=
n.2531C=
c.4651C= (p.Leu1551=)
c.5401C= (p.Leu1801=)
c.5302C= (p.Leu1768=)
c.5236C= (p.Leu1746=)
c.5218C= (p.Leu1740=)
c.4870C= (p.Leu1624=)
c.4750C= (p.Leu1584=)
c.4961C= (p.Pro1654=)
n.4992C=
c.5377C= (p.Leu1793=)
c.5314C= (p.Leu1772=)
c.5305C= (p.Leu1769=)
c.4915C= (p.Leu1639=)
c.4774C= (p.Leu1592=)
c.5206C= (p.Leu1736=)
8g.41668524G>TCA371052057ANK1c.5260C>A (p.Leu1754Met)
c.5356C>A (p.Leu1786Met)
c.5173C>A (p.Leu1725Met)
c.5137C>A (p.Leu1713Met)
c.1151C>A
c.709C>A
c.2615C>A
n.2531C>A
c.4651C>A (p.Leu1551Met)
c.5401C>A (p.Leu1801Met)
c.5302C>A (p.Leu1768Met)
c.5236C>A (p.Leu1746Met)
c.5218C>A (p.Leu1740Met)
c.4870C>A (p.Leu1624Met)
c.4750C>A (p.Leu1584Met)
c.4961C>A (p.Pro1654His)
n.4992C>A
c.5377C>A (p.Leu1793Met)
c.5314C>A (p.Leu1772Met)
c.5305C>A (p.Leu1769Met)
c.4915C>A (p.Leu1639Met)
c.4774C>A (p.Leu1592Met)
c.5206C>A (p.Leu1736Met)
8g.41668525G>ACA460782116ANK1c.5259C>T (p.Tyr1753=)
c.5355C>T (p.Tyr1785=)
c.5172C>T (p.Tyr1724=)
c.5136C>T (p.Tyr1712=)
c.1150C>T
c.708C>T
c.2614C>T
n.2530C>T
c.4650C>T (p.Tyr1550=)
c.5400C>T (p.Tyr1800=)
c.5301C>T (p.Tyr1767=)
c.5235C>T (p.Tyr1745=)
c.5217C>T (p.Tyr1739=)
c.4869C>T (p.Tyr1623=)
c.4749C>T (p.Tyr1583=)
c.4960C>T (p.Pro1654Ser)
n.4991C>T
c.5376C>T (p.Tyr1792=)
c.5313C>T (p.Tyr1771=)
c.5304C>T (p.Tyr1768=)
c.4914C>T (p.Tyr1638=)
c.4773C>T (p.Tyr1591=)
c.5205C>T (p.Tyr1735=)
8g.41668525G>CCA371052061ANK1c.5259C>G (p.Tyr1753Ter)
c.5355C>G (p.Tyr1785Ter)
c.5172C>G (p.Tyr1724Ter)
c.5136C>G (p.Tyr1712Ter)
c.1150C>G
c.708C>G
c.2614C>G
n.2530C>G
c.4650C>G (p.Tyr1550Ter)
c.5400C>G (p.Tyr1800Ter)
c.5301C>G (p.Tyr1767Ter)
c.5235C>G (p.Tyr1745Ter)
c.5217C>G (p.Tyr1739Ter)
c.4869C>G (p.Tyr1623Ter)
c.4749C>G (p.Tyr1583Ter)
c.4960C>G (p.Pro1654Ala)
n.4991C>G
c.5376C>G (p.Tyr1792Ter)
c.5313C>G (p.Tyr1771Ter)
c.5304C>G (p.Tyr1768Ter)
c.4914C>G (p.Tyr1638Ter)
c.4773C>G (p.Tyr1591Ter)
c.5205C>G (p.Tyr1735Ter)
8g.41668525G>TCA371052063ANK1c.5259C>A (p.Tyr1753Ter)
c.5355C>A (p.Tyr1785Ter)
c.5172C>A (p.Tyr1724Ter)
c.5136C>A (p.Tyr1712Ter)
c.1150C>A
c.708C>A
c.2614C>A
n.2530C>A
c.4650C>A (p.Tyr1550Ter)
c.5400C>A (p.Tyr1800Ter)
c.5301C>A (p.Tyr1767Ter)
c.5235C>A (p.Tyr1745Ter)
c.5217C>A (p.Tyr1739Ter)
c.4869C>A (p.Tyr1623Ter)
c.4749C>A (p.Tyr1583Ter)
c.4960C>A (p.Pro1654Thr)
n.4991C>A
c.5376C>A (p.Tyr1792Ter)
c.5313C>A (p.Tyr1771Ter)
c.5304C>A (p.Tyr1768Ter)
c.4914C>A (p.Tyr1638Ter)
c.4773C>A (p.Tyr1591Ter)
c.5205C>A (p.Tyr1735Ter)
8g.41668526T>ACA371052069ANK1c.5258A>T (p.Tyr1753Phe)
c.5354A>T (p.Tyr1785Phe)
c.5171A>T (p.Tyr1724Phe)
c.5135A>T (p.Tyr1712Phe)
c.1149A>T
c.707A>T
c.2613A>T
n.2529A>T
c.4649A>T (p.Tyr1550Phe)
c.5399A>T (p.Tyr1800Phe)
c.5300A>T (p.Tyr1767Phe)
c.5234A>T (p.Tyr1745Phe)
c.5216A>T (p.Tyr1739Phe)
c.4868A>T (p.Tyr1623Phe)
c.4748A>T (p.Tyr1583Phe)
c.4959A>T (p.Ile1653=)
n.4990A>T
c.5375A>T (p.Tyr1792Phe)
c.5312A>T (p.Tyr1771Phe)
c.5303A>T (p.Tyr1768Phe)
c.4913A>T (p.Tyr1638Phe)
c.4772A>T (p.Tyr1591Phe)
c.5204A>T (p.Tyr1735Phe)
 ClinVar
8g.41668526T>CCA371052072ANK1c.5258A>G (p.Tyr1753Cys)
c.5354A>G (p.Tyr1785Cys)
c.5171A>G (p.Tyr1724Cys)
c.5135A>G (p.Tyr1712Cys)
c.1149A>G
c.707A>G
c.2613A>G
n.2529A>G
c.4649A>G (p.Tyr1550Cys)
c.5399A>G (p.Tyr1800Cys)
c.5300A>G (p.Tyr1767Cys)
c.5234A>G (p.Tyr1745Cys)
c.5216A>G (p.Tyr1739Cys)
c.4868A>G (p.Tyr1623Cys)
c.4748A>G (p.Tyr1583Cys)
c.4959A>G (p.Ile1653Met)
n.4990A>G
c.5375A>G (p.Tyr1792Cys)
c.5312A>G (p.Tyr1771Cys)
c.5303A>G (p.Tyr1768Cys)
c.4913A>G (p.Tyr1638Cys)
c.4772A>G (p.Tyr1591Cys)
c.5204A>G (p.Tyr1735Cys)
8g.41668526T>GCA371052074ANK1c.5258A>C (p.Tyr1753Ser)
c.5354A>C (p.Tyr1785Ser)
c.5171A>C (p.Tyr1724Ser)
c.5135A>C (p.Tyr1712Ser)
c.1149A>C
c.707A>C
c.2613A>C
n.2529A>C
c.4649A>C (p.Tyr1550Ser)
c.5399A>C (p.Tyr1800Ser)
c.5300A>C (p.Tyr1767Ser)
c.5234A>C (p.Tyr1745Ser)
c.5216A>C (p.Tyr1739Ser)
c.4868A>C (p.Tyr1623Ser)
c.4748A>C (p.Tyr1583Ser)
c.4959A>C (p.Ile1653=)
n.4990A>C
c.5375A>C (p.Tyr1792Ser)
c.5312A>C (p.Tyr1771Ser)
c.5303A>C (p.Tyr1768Ser)
c.4913A>C (p.Tyr1638Ser)
c.4772A>C (p.Tyr1591Ser)
c.5204A>C (p.Tyr1735Ser)
8g.41668527A>CCA371052086ANK1c.5257T>G (p.Tyr1753Asp)
c.5353T>G (p.Tyr1785Asp)
c.5170T>G (p.Tyr1724Asp)
c.5134T>G (p.Tyr1712Asp)
c.1148T>G
c.706T>G
c.2612T>G
n.2528T>G
c.4648T>G (p.Tyr1550Asp)
c.5398T>G (p.Tyr1800Asp)
c.5299T>G (p.Tyr1767Asp)
c.5233T>G (p.Tyr1745Asp)
c.5215T>G (p.Tyr1739Asp)
c.4867T>G (p.Tyr1623Asp)
c.4747T>G (p.Tyr1583Asp)
c.4958T>G (p.Ile1653Arg)
n.4989T>G
c.5374T>G (p.Tyr1792Asp)
c.5311T>G (p.Tyr1771Asp)
c.5302T>G (p.Tyr1768Asp)
c.4912T>G (p.Tyr1638Asp)
c.4771T>G (p.Tyr1591Asp)
c.5203T>G (p.Tyr1735Asp)
8g.41668527A>GCA371052083ANK1c.5257T>C (p.Tyr1753His)
c.5353T>C (p.Tyr1785His)
c.5170T>C (p.Tyr1724His)
c.5134T>C (p.Tyr1712His)
c.1148T>C
c.706T>C
c.2612T>C
n.2528T>C
c.4648T>C (p.Tyr1550His)
c.5398T>C (p.Tyr1800His)
c.5299T>C (p.Tyr1767His)
c.5233T>C (p.Tyr1745His)
c.5215T>C (p.Tyr1739His)
c.4867T>C (p.Tyr1623His)
c.4747T>C (p.Tyr1583His)
c.4958T>C (p.Ile1653Thr)
n.4989T>C
c.5374T>C (p.Tyr1792His)
c.5311T>C (p.Tyr1771His)
c.5302T>C (p.Tyr1768His)
c.4912T>C (p.Tyr1638His)
c.4771T>C (p.Tyr1591His)
c.5203T>C (p.Tyr1735His)
8g.41668527A>TCA371052078ANK1c.5257T>A (p.Tyr1753Asn)
c.5353T>A (p.Tyr1785Asn)
c.5170T>A (p.Tyr1724Asn)
c.5134T>A (p.Tyr1712Asn)
c.1148T>A
c.706T>A
c.2612T>A
n.2528T>A
c.4648T>A (p.Tyr1550Asn)
c.5398T>A (p.Tyr1800Asn)
c.5299T>A (p.Tyr1767Asn)
c.5233T>A (p.Tyr1745Asn)
c.5215T>A (p.Tyr1739Asn)
c.4867T>A (p.Tyr1623Asn)
c.4747T>A (p.Tyr1583Asn)
c.4958T>A (p.Ile1653Lys)
n.4989T>A
c.5374T>A (p.Tyr1792Asn)
c.5311T>A (p.Tyr1771Asn)
c.5302T>A (p.Tyr1768Asn)
c.4912T>A (p.Tyr1638Asn)
c.4771T>A (p.Tyr1591Asn)
c.5203T>A (p.Tyr1735Asn)
8g.41668528T>ACA460782117ANK1c.5256A>T (p.Ser1752=)
c.5352A>T (p.Ser1784=)
c.5169A>T (p.Ser1723=)
c.5133A>T (p.Ser1711=)
c.1147A>T
c.705A>T
c.2611A>T
n.2527A>T
c.4647A>T (p.Ser1549=)
c.5397A>T (p.Ser1799=)
c.5298A>T (p.Ser1766=)
c.5232A>T (p.Ser1744=)
c.5214A>T (p.Ser1738=)
c.4866A>T (p.Ser1622=)
c.4746A>T (p.Ser1582=)
c.4957A>T (p.Ile1653Leu)
n.4988A>T
c.5373A>T (p.Ser1791=)
c.5310A>T (p.Ser1770=)
c.5301A>T (p.Ser1767=)
c.4911A>T (p.Ser1637=)
c.4770A>T (p.Ser1590=)
c.5202A>T (p.Ser1734=)
 gnomAD v3 gnomAD v4
8g.41668528T>CCA460782118ANK1c.5256A>G (p.Ser1752=)
c.5352A>G (p.Ser1784=)
c.5169A>G (p.Ser1723=)
c.5133A>G (p.Ser1711=)
c.1147A>G
c.705A>G
c.2611A>G
n.2527A>G
c.4647A>G (p.Ser1549=)
c.5397A>G (p.Ser1799=)
c.5298A>G (p.Ser1766=)
c.5232A>G (p.Ser1744=)
c.5214A>G (p.Ser1738=)
c.4866A>G (p.Ser1622=)
c.4746A>G (p.Ser1582=)
c.4957A>G (p.Ile1653Val)
n.4988A>G
c.5373A>G (p.Ser1791=)
c.5310A>G (p.Ser1770=)
c.5301A>G (p.Ser1767=)
c.4911A>G (p.Ser1637=)
c.4770A>G (p.Ser1590=)
c.5202A>G (p.Ser1734=)
8g.41668528T>GCA175914392ANK1c.5256A>C (p.Ser1752=)
c.5352A>C (p.Ser1784=)
c.5169A>C (p.Ser1723=)
c.5133A>C (p.Ser1711=)
c.1147A>C
c.705A>C
c.2611A>C
n.2527A>C
c.4647A>C (p.Ser1549=)
c.5397A>C (p.Ser1799=)
c.5298A>C (p.Ser1766=)
c.5232A>C (p.Ser1744=)
c.5214A>C (p.Ser1738=)
c.4866A>C (p.Ser1622=)
c.4746A>C (p.Ser1582=)
c.4957A>C (p.Ile1653Leu)
n.4988A>C
c.5373A>C (p.Ser1791=)
c.5310A>C (p.Ser1770=)
c.5301A>C (p.Ser1767=)
c.4911A>C (p.Ser1637=)
c.4770A>C (p.Ser1590=)
c.5202A>C (p.Ser1734=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.41668528T=CA1779071347ANK1c.5256A= (p.Ser1752=)
c.5352A= (p.Ser1784=)
c.5169A= (p.Ser1723=)
c.5133A= (p.Ser1711=)
c.1147A=
c.705A=
c.2611A=
n.2527A=
c.4647A= (p.Ser1549=)
c.5397A= (p.Ser1799=)
c.5298A= (p.Ser1766=)
c.5232A= (p.Ser1744=)
c.5214A= (p.Ser1738=)
c.4866A= (p.Ser1622=)
c.4746A= (p.Ser1582=)
c.4957A= (p.Ile1653=)
n.4988A=
c.5373A= (p.Ser1791=)
c.5310A= (p.Ser1770=)
c.5301A= (p.Ser1767=)
c.4911A= (p.Ser1637=)
c.4770A= (p.Ser1590=)
c.5202A= (p.Ser1734=)
8g.41668529G>ACA175914395ANK1c.5255C>T (p.Ser1752Leu)
c.5351C>T (p.Ser1784Leu)
c.5168C>T (p.Ser1723Leu)
c.5132C>T (p.Ser1711Leu)
c.1146C>T
c.704C>T
c.2610C>T
n.2526C>T
c.4646C>T (p.Ser1549Leu)
c.5396C>T (p.Ser1799Leu)
c.5297C>T (p.Ser1766Leu)
c.5231C>T (p.Ser1744Leu)
c.5213C>T (p.Ser1738Leu)
c.4865C>T (p.Ser1622Leu)
c.4745C>T (p.Ser1582Leu)
c.4956C>T (p.Leu1652=)
n.4987C>T
c.5372C>T (p.Ser1791Leu)
c.5309C>T (p.Ser1770Leu)
c.5300C>T (p.Ser1767Leu)
c.4910C>T (p.Ser1637Leu)
c.4769C>T (p.Ser1590Leu)
c.5201C>T (p.Ser1734Leu)
 dbSNP gnomAD v4
8g.41668529G>CCA371052091ANK1c.5255C>G (p.Ser1752Ter)
c.5351C>G (p.Ser1784Ter)
c.5168C>G (p.Ser1723Ter)
c.5132C>G (p.Ser1711Ter)
c.1146C>G
c.704C>G
c.2610C>G
n.2526C>G
c.4646C>G (p.Ser1549Ter)
c.5396C>G (p.Ser1799Ter)
c.5297C>G (p.Ser1766Ter)
c.5231C>G (p.Ser1744Ter)
c.5213C>G (p.Ser1738Ter)
c.4865C>G (p.Ser1622Ter)
c.4745C>G (p.Ser1582Ter)
c.4956C>G (p.Leu1652=)
n.4987C>G
c.5372C>G (p.Ser1791Ter)
c.5309C>G (p.Ser1770Ter)
c.5300C>G (p.Ser1767Ter)
c.4910C>G (p.Ser1637Ter)
c.4769C>G (p.Ser1590Ter)
c.5201C>G (p.Ser1734Ter)
8g.41668529G=CA1779071349ANK1c.5255C= (p.Ser1752=)
c.5351C= (p.Ser1784=)
c.5168C= (p.Ser1723=)
c.5132C= (p.Ser1711=)
c.1146C=
c.704C=
c.2610C=
n.2526C=
c.4646C= (p.Ser1549=)
c.5396C= (p.Ser1799=)
c.5297C= (p.Ser1766=)
c.5231C= (p.Ser1744=)
c.5213C= (p.Ser1738=)
c.4865C= (p.Ser1622=)
c.4745C= (p.Ser1582=)
c.4956C= (p.Leu1652=)
n.4987C=
c.5372C= (p.Ser1791=)
c.5309C= (p.Ser1770=)
c.5300C= (p.Ser1767=)
c.4910C= (p.Ser1637=)
c.4769C= (p.Ser1590=)
c.5201C= (p.Ser1734=)
8g.41668529G>TCA371052094ANK1c.5255C>A (p.Ser1752Ter)
c.5351C>A (p.Ser1784Ter)
c.5168C>A (p.Ser1723Ter)
c.5132C>A (p.Ser1711Ter)
c.1146C>A
c.704C>A
c.2610C>A
n.2526C>A
c.4646C>A (p.Ser1549Ter)
c.5396C>A (p.Ser1799Ter)
c.5297C>A (p.Ser1766Ter)
c.5231C>A (p.Ser1744Ter)
c.5213C>A (p.Ser1738Ter)
c.4865C>A (p.Ser1622Ter)
c.4745C>A (p.Ser1582Ter)
c.4956C>A (p.Leu1652=)
n.4987C>A
c.5372C>A (p.Ser1791Ter)
c.5309C>A (p.Ser1770Ter)
c.5300C>A (p.Ser1767Ter)
c.4910C>A (p.Ser1637Ter)
c.4769C>A (p.Ser1590Ter)
c.5201C>A (p.Ser1734Ter)
8g.41668530A>CCA371052097ANK1c.5254T>G (p.Ser1752Ala)
c.5350T>G (p.Ser1784Ala)
c.5167T>G (p.Ser1723Ala)
c.5131T>G (p.Ser1711Ala)
c.1145T>G
c.703T>G
c.2609T>G
n.2525T>G
c.4645T>G (p.Ser1549Ala)
c.5395T>G (p.Ser1799Ala)
c.5296T>G (p.Ser1766Ala)
c.5230T>G (p.Ser1744Ala)
c.5212T>G (p.Ser1738Ala)
c.4864T>G (p.Ser1622Ala)
c.4744T>G (p.Ser1582Ala)
c.4955T>G (p.Leu1652Arg)
n.4986T>G
c.5371T>G (p.Ser1791Ala)
c.5308T>G (p.Ser1770Ala)
c.5299T>G (p.Ser1767Ala)
c.4909T>G (p.Ser1637Ala)
c.4768T>G (p.Ser1590Ala)
c.5200T>G (p.Ser1734Ala)
8g.41668530A>GCA371052098ANK1c.5254T>C (p.Ser1752Pro)
c.5350T>C (p.Ser1784Pro)
c.5167T>C (p.Ser1723Pro)
c.5131T>C (p.Ser1711Pro)
c.1145T>C
c.703T>C
c.2609T>C
n.2525T>C
c.4645T>C (p.Ser1549Pro)
c.5395T>C (p.Ser1799Pro)
c.5296T>C (p.Ser1766Pro)
c.5230T>C (p.Ser1744Pro)
c.5212T>C (p.Ser1738Pro)
c.4864T>C (p.Ser1622Pro)
c.4744T>C (p.Ser1582Pro)
c.4955T>C (p.Leu1652Pro)
n.4986T>C
c.5371T>C (p.Ser1791Pro)
c.5308T>C (p.Ser1770Pro)
c.5299T>C (p.Ser1767Pro)
c.4909T>C (p.Ser1637Pro)
c.4768T>C (p.Ser1590Pro)
c.5200T>C (p.Ser1734Pro)
8g.41668530A>TCA371052100ANK1c.5254T>A (p.Ser1752Thr)
c.5350T>A (p.Ser1784Thr)
c.5167T>A (p.Ser1723Thr)
c.5131T>A (p.Ser1711Thr)
c.1145T>A
c.703T>A
c.2609T>A
n.2525T>A
c.4645T>A (p.Ser1549Thr)
c.5395T>A (p.Ser1799Thr)
c.5296T>A (p.Ser1766Thr)
c.5230T>A (p.Ser1744Thr)
c.5212T>A (p.Ser1738Thr)
c.4864T>A (p.Ser1622Thr)
c.4744T>A (p.Ser1582Thr)
c.4955T>A (p.Leu1652His)
n.4986T>A
c.5371T>A (p.Ser1791Thr)
c.5308T>A (p.Ser1770Thr)
c.5299T>A (p.Ser1767Thr)
c.4909T>A (p.Ser1637Thr)
c.4768T>A (p.Ser1590Thr)
c.5200T>A (p.Ser1734Thr)
8g.41668531G>ACA460782119ANK1c.5253C>T (p.Val1751=)
c.5349C>T (p.Val1783=)
c.5166C>T (p.Val1722=)
c.5130C>T (p.Val1710=)
c.1144C>T
c.702C>T
c.2608C>T
n.2524C>T
c.4644C>T (p.Val1548=)
c.5394C>T (p.Val1798=)
c.5295C>T (p.Val1765=)
c.5229C>T (p.Val1743=)
c.5211C>T (p.Val1737=)
c.4863C>T (p.Val1621=)
c.4743C>T (p.Val1581=)
c.4954C>T (p.Leu1652Phe)
n.4985C>T
c.5370C>T (p.Val1790=)
c.5307C>T (p.Val1769=)
c.5298C>T (p.Val1766=)
c.4908C>T (p.Val1636=)
c.4767C>T (p.Val1589=)
c.5199C>T (p.Val1733=)
8g.41668531G>CCA460782120ANK1c.5253C>G (p.Val1751=)
c.5349C>G (p.Val1783=)
c.5166C>G (p.Val1722=)
c.5130C>G (p.Val1710=)
c.1144C>G
c.702C>G
c.2608C>G
n.2524C>G
c.4644C>G (p.Val1548=)
c.5394C>G (p.Val1798=)
c.5295C>G (p.Val1765=)
c.5229C>G (p.Val1743=)
c.5211C>G (p.Val1737=)
c.4863C>G (p.Val1621=)
c.4743C>G (p.Val1581=)
c.4954C>G (p.Leu1652Val)
n.4985C>G
c.5370C>G (p.Val1790=)
c.5307C>G (p.Val1769=)
c.5298C>G (p.Val1766=)
c.4908C>G (p.Val1636=)
c.4767C>G (p.Val1589=)
c.5199C>G (p.Val1733=)
8g.41668531G>TCA460782121ANK1c.5253C>A (p.Val1751=)
c.5349C>A (p.Val1783=)
c.5166C>A (p.Val1722=)
c.5130C>A (p.Val1710=)
c.1144C>A
c.702C>A
c.2608C>A
n.2524C>A
c.4644C>A (p.Val1548=)
c.5394C>A (p.Val1798=)
c.5295C>A (p.Val1765=)
c.5229C>A (p.Val1743=)
c.5211C>A (p.Val1737=)
c.4863C>A (p.Val1621=)
c.4743C>A (p.Val1581=)
c.4954C>A (p.Leu1652Ile)
n.4985C>A
c.5370C>A (p.Val1790=)
c.5307C>A (p.Val1769=)
c.5298C>A (p.Val1766=)
c.4908C>A (p.Val1636=)
c.4767C>A (p.Val1589=)
c.5199C>A (p.Val1733=)
8g.41668532A=CA1779071352ANK1c.5252T= (p.Val1751=)
c.5348T= (p.Val1783=)
c.5165T= (p.Val1722=)
c.5129T= (p.Val1710=)
c.1143T=
c.701T=
c.2607T=
n.2523T=
c.4643T= (p.Val1548=)
c.5393T= (p.Val1798=)
c.5294T= (p.Val1765=)
c.5228T= (p.Val1743=)
c.5210T= (p.Val1737=)
c.4862T= (p.Val1621=)
c.4742T= (p.Val1581=)
c.4953T= (p.Cys1651=)
n.4984T=
c.5369T= (p.Val1790=)
c.5306T= (p.Val1769=)
c.5297T= (p.Val1766=)
c.4907T= (p.Val1636=)
c.4766T= (p.Val1589=)
c.5198T= (p.Val1733=)
8g.41668532A>CCA371052103ANK1c.5252T>G (p.Val1751Gly)
c.5348T>G (p.Val1783Gly)
c.5165T>G (p.Val1722Gly)
c.5129T>G (p.Val1710Gly)
c.1143T>G
c.701T>G
c.2607T>G
n.2523T>G
c.4643T>G (p.Val1548Gly)
c.5393T>G (p.Val1798Gly)
c.5294T>G (p.Val1765Gly)
c.5228T>G (p.Val1743Gly)
c.5210T>G (p.Val1737Gly)
c.4862T>G (p.Val1621Gly)
c.4742T>G (p.Val1581Gly)
c.4953T>G (p.Cys1651Trp)
n.4984T>G
c.5369T>G (p.Val1790Gly)
c.5306T>G (p.Val1769Gly)
c.5297T>G (p.Val1766Gly)
c.4907T>G (p.Val1636Gly)
c.4766T>G (p.Val1589Gly)
c.5198T>G (p.Val1733Gly)
8g.41668532A>GCA371052107ANK1c.5252T>C (p.Val1751Ala)
c.5348T>C (p.Val1783Ala)
c.5165T>C (p.Val1722Ala)
c.5129T>C (p.Val1710Ala)
c.1143T>C
c.701T>C
c.2607T>C
n.2523T>C
c.4643T>C (p.Val1548Ala)
c.5393T>C (p.Val1798Ala)
c.5294T>C (p.Val1765Ala)
c.5228T>C (p.Val1743Ala)
c.5210T>C (p.Val1737Ala)
c.4862T>C (p.Val1621Ala)
c.4742T>C (p.Val1581Ala)
c.4953T>C (p.Cys1651=)
n.4984T>C
c.5369T>C (p.Val1790Ala)
c.5306T>C (p.Val1769Ala)
c.5297T>C (p.Val1766Ala)
c.4907T>C (p.Val1636Ala)
c.4766T>C (p.Val1589Ala)
c.5198T>C (p.Val1733Ala)
8g.41668532A>TCA371052109ANK1c.5252T>A (p.Val1751Asp)
c.5348T>A (p.Val1783Asp)
c.5165T>A (p.Val1722Asp)
c.5129T>A (p.Val1710Asp)
c.1143T>A
c.701T>A
c.2607T>A
n.2523T>A
c.4643T>A (p.Val1548Asp)
c.5393T>A (p.Val1798Asp)
c.5294T>A (p.Val1765Asp)
c.5228T>A (p.Val1743Asp)
c.5210T>A (p.Val1737Asp)
c.4862T>A (p.Val1621Asp)
c.4742T>A (p.Val1581Asp)
c.4953T>A (p.Cys1651Ter)
n.4984T>A
c.5369T>A (p.Val1790Asp)
c.5306T>A (p.Val1769Asp)
c.5297T>A (p.Val1766Asp)
c.4907T>A (p.Val1636Asp)
c.4766T>A (p.Val1589Asp)
c.5198T>A (p.Val1733Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.41668533C>ACA371052116ANK1c.5251G>T (p.Val1751Phe)
c.5347G>T (p.Val1783Phe)
c.5164G>T (p.Val1722Phe)
c.5128G>T (p.Val1710Phe)
c.1142G>T
c.700G>T
c.2606G>T
n.2522G>T
c.4642G>T (p.Val1548Phe)
c.5392G>T (p.Val1798Phe)
c.5293G>T (p.Val1765Phe)
c.5227G>T (p.Val1743Phe)
c.5209G>T (p.Val1737Phe)
c.4861G>T (p.Val1621Phe)
c.4741G>T (p.Val1581Phe)
c.4952G>T (p.Cys1651Phe)
n.4983G>T
c.5368G>T (p.Val1790Phe)
c.5305G>T (p.Val1769Phe)
c.5296G>T (p.Val1766Phe)
c.4906G>T (p.Val1636Phe)
c.4765G>T (p.Val1589Phe)
c.5197G>T (p.Val1733Phe)
 gnomAD v4
8g.41668533C>GCA371052122ANK1c.5251G>C (p.Val1751Leu)
c.5347G>C (p.Val1783Leu)
c.5164G>C (p.Val1722Leu)
c.5128G>C (p.Val1710Leu)
c.1142G>C
c.700G>C
c.2606G>C
n.2522G>C
c.4642G>C (p.Val1548Leu)
c.5392G>C (p.Val1798Leu)
c.5293G>C (p.Val1765Leu)
c.5227G>C (p.Val1743Leu)
c.5209G>C (p.Val1737Leu)
c.4861G>C (p.Val1621Leu)
c.4741G>C (p.Val1581Leu)
c.4952G>C (p.Cys1651Ser)
n.4983G>C
c.5368G>C (p.Val1790Leu)
c.5305G>C (p.Val1769Leu)
c.5296G>C (p.Val1766Leu)
c.4906G>C (p.Val1636Leu)
c.4765G>C (p.Val1589Leu)
c.5197G>C (p.Val1733Leu)
8g.41668533C>TCA371052124ANK1c.5251G>A (p.Val1751Ile)
c.5347G>A (p.Val1783Ile)
c.5164G>A (p.Val1722Ile)
c.5128G>A (p.Val1710Ile)
c.1142G>A
c.700G>A
c.2606G>A
n.2522G>A
c.4642G>A (p.Val1548Ile)
c.5392G>A (p.Val1798Ile)
c.5293G>A (p.Val1765Ile)
c.5227G>A (p.Val1743Ile)
c.5209G>A (p.Val1737Ile)
c.4861G>A (p.Val1621Ile)
c.4741G>A (p.Val1581Ile)
c.4952G>A (p.Cys1651Tyr)
n.4983G>A
c.5368G>A (p.Val1790Ile)
c.5305G>A (p.Val1769Ile)
c.5296G>A (p.Val1766Ile)
c.4906G>A (p.Val1636Ile)
c.4765G>A (p.Val1589Ile)
c.5197G>A (p.Val1733Ile)
 gnomAD v4
8g.41668534A>CCA371052128ANK1c.5250T>G (p.Ile1750Met)
c.5346T>G (p.Ile1782Met)
c.5163T>G (p.Ile1721Met)
c.5127T>G (p.Ile1709Met)
c.1141T>G
c.699T>G
c.2605T>G
n.2521T>G
c.4641T>G (p.Ile1547Met)
c.5391T>G (p.Ile1797Met)
c.5292T>G (p.Ile1764Met)
c.5226T>G (p.Ile1742Met)
c.5208T>G (p.Ile1736Met)
c.4860T>G (p.Ile1620Met)
c.4740T>G (p.Ile1580Met)
c.4951T>G (p.Cys1651Gly)
n.4982T>G
c.5367T>G (p.Ile1789Met)
c.5304T>G (p.Ile1768Met)
c.5295T>G (p.Ile1765Met)
c.4905T>G (p.Ile1635Met)
c.4764T>G (p.Ile1588Met)
c.5196T>G (p.Ile1732Met)
8g.41668534A>GCA460782123ANK1c.5250T>C (p.Ile1750=)
c.5346T>C (p.Ile1782=)
c.5163T>C (p.Ile1721=)
c.5127T>C (p.Ile1709=)
c.1141T>C
c.699T>C
c.2605T>C
n.2521T>C
c.4641T>C (p.Ile1547=)
c.5391T>C (p.Ile1797=)
c.5292T>C (p.Ile1764=)
c.5226T>C (p.Ile1742=)
c.5208T>C (p.Ile1736=)
c.4860T>C (p.Ile1620=)
c.4740T>C (p.Ile1580=)
c.4951T>C (p.Cys1651Arg)
n.4982T>C
c.5367T>C (p.Ile1789=)
c.5304T>C (p.Ile1768=)
c.5295T>C (p.Ile1765=)
c.4905T>C (p.Ile1635=)
c.4764T>C (p.Ile1588=)
c.5196T>C (p.Ile1732=)
8g.41668534A>TCA460782122ANK1c.5250T>A (p.Ile1750=)
c.5346T>A (p.Ile1782=)
c.5163T>A (p.Ile1721=)
c.5127T>A (p.Ile1709=)
c.1141T>A
c.699T>A
c.2605T>A
n.2521T>A
c.4641T>A (p.Ile1547=)
c.5391T>A (p.Ile1797=)
c.5292T>A (p.Ile1764=)
c.5226T>A (p.Ile1742=)
c.5208T>A (p.Ile1736=)
c.4860T>A (p.Ile1620=)
c.4740T>A (p.Ile1580=)
c.4951T>A (p.Cys1651Ser)
n.4982T>A
c.5367T>A (p.Ile1789=)
c.5304T>A (p.Ile1768=)
c.5295T>A (p.Ile1765=)
c.4905T>A (p.Ile1635=)
c.4764T>A (p.Ile1588=)
c.5196T>A (p.Ile1732=)
8g.41668535A=CA1779071355ANK1c.5249T= (p.Ile1750=)
c.5345T= (p.Ile1782=)
c.5162T= (p.Ile1721=)
c.5126T= (p.Ile1709=)
c.1140T=
c.698T=
c.2604T=
n.2520T=
c.4640T= (p.Ile1547=)
c.5390T= (p.Ile1797=)
c.5291T= (p.Ile1764=)
c.5225T= (p.Ile1742=)
c.5207T= (p.Ile1736=)
c.4859T= (p.Ile1620=)
c.4739T= (p.Ile1580=)
c.4950T= (p.Asp1650=)
n.4981T=
c.5366T= (p.Ile1789=)
c.5303T= (p.Ile1768=)
c.5294T= (p.Ile1765=)
c.4904T= (p.Ile1635=)
c.4763T= (p.Ile1588=)
c.5195T= (p.Ile1732=)
8g.41668535A>CCA371052138ANK1c.5249T>G (p.Ile1750Ser)
c.5345T>G (p.Ile1782Ser)
c.5162T>G (p.Ile1721Ser)
c.5126T>G (p.Ile1709Ser)
c.1140T>G
c.698T>G
c.2604T>G
n.2520T>G
c.4640T>G (p.Ile1547Ser)
c.5390T>G (p.Ile1797Ser)
c.5291T>G (p.Ile1764Ser)
c.5225T>G (p.Ile1742Ser)
c.5207T>G (p.Ile1736Ser)
c.4859T>G (p.Ile1620Ser)
c.4739T>G (p.Ile1580Ser)
c.4950T>G (p.Asp1650Glu)
n.4981T>G
c.5366T>G (p.Ile1789Ser)
c.5303T>G (p.Ile1768Ser)
c.5294T>G (p.Ile1765Ser)
c.4904T>G (p.Ile1635Ser)
c.4763T>G (p.Ile1588Ser)
c.5195T>G (p.Ile1732Ser)
8g.41668535A>GCA371052132ANK1c.5249T>C (p.Ile1750Thr)
c.5345T>C (p.Ile1782Thr)
c.5162T>C (p.Ile1721Thr)
c.5126T>C (p.Ile1709Thr)
c.1140T>C
c.698T>C
c.2604T>C
n.2520T>C
c.4640T>C (p.Ile1547Thr)
c.5390T>C (p.Ile1797Thr)
c.5291T>C (p.Ile1764Thr)
c.5225T>C (p.Ile1742Thr)
c.5207T>C (p.Ile1736Thr)
c.4859T>C (p.Ile1620Thr)
c.4739T>C (p.Ile1580Thr)
c.4950T>C (p.Asp1650=)
n.4981T>C
c.5366T>C (p.Ile1789Thr)
c.5303T>C (p.Ile1768Thr)
c.5294T>C (p.Ile1765Thr)
c.4904T>C (p.Ile1635Thr)
c.4763T>C (p.Ile1588Thr)
c.5195T>C (p.Ile1732Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.41668535A>TCA371052135ANK1c.5249T>A (p.Ile1750Asn)
c.5345T>A (p.Ile1782Asn)
c.5162T>A (p.Ile1721Asn)
c.5126T>A (p.Ile1709Asn)
c.1140T>A
c.698T>A
c.2604T>A
n.2520T>A
c.4640T>A (p.Ile1547Asn)
c.5390T>A (p.Ile1797Asn)
c.5291T>A (p.Ile1764Asn)
c.5225T>A (p.Ile1742Asn)
c.5207T>A (p.Ile1736Asn)
c.4859T>A (p.Ile1620Asn)
c.4739T>A (p.Ile1580Asn)
c.4950T>A (p.Asp1650Glu)
n.4981T>A
c.5366T>A (p.Ile1789Asn)
c.5303T>A (p.Ile1768Asn)
c.5294T>A (p.Ile1765Asn)
c.4904T>A (p.Ile1635Asn)
c.4763T>A (p.Ile1588Asn)
c.5195T>A (p.Ile1732Asn)
8g.41668536T>ACA371052143ANK1c.5248A>T (p.Ile1750Phe)
c.5344A>T (p.Ile1782Phe)
c.5161A>T (p.Ile1721Phe)
c.5125A>T (p.Ile1709Phe)
c.1139A>T
c.697A>T
c.2603A>T
n.2519A>T
c.4639A>T (p.Ile1547Phe)
c.5389A>T (p.Ile1797Phe)
c.5290A>T (p.Ile1764Phe)
c.5224A>T (p.Ile1742Phe)
c.5206A>T (p.Ile1736Phe)
c.4858A>T (p.Ile1620Phe)
c.4738A>T (p.Ile1580Phe)
c.4949A>T (p.Asp1650Val)
n.4980A>T
c.5365A>T (p.Ile1789Phe)
c.5302A>T (p.Ile1768Phe)
c.5293A>T (p.Ile1765Phe)
c.4903A>T (p.Ile1635Phe)
c.4762A>T (p.Ile1588Phe)
c.5194A>T (p.Ile1732Phe)
8g.41668536T>CCA371052146ANK1c.5248A>G (p.Ile1750Val)
c.5344A>G (p.Ile1782Val)
c.5161A>G (p.Ile1721Val)
c.5125A>G (p.Ile1709Val)
c.1139A>G
c.697A>G
c.2603A>G
n.2519A>G
c.4639A>G (p.Ile1547Val)
c.5389A>G (p.Ile1797Val)
c.5290A>G (p.Ile1764Val)
c.5224A>G (p.Ile1742Val)
c.5206A>G (p.Ile1736Val)
c.4858A>G (p.Ile1620Val)
c.4738A>G (p.Ile1580Val)
c.4949A>G (p.Asp1650Gly)
n.4980A>G
c.5365A>G (p.Ile1789Val)
c.5302A>G (p.Ile1768Val)
c.5293A>G (p.Ile1765Val)
c.4903A>G (p.Ile1635Val)
c.4762A>G (p.Ile1588Val)
c.5194A>G (p.Ile1732Val)
 gnomAD v4
8g.41668536T>GCA371052149ANK1c.5248A>C (p.Ile1750Leu)
c.5344A>C (p.Ile1782Leu)
c.5161A>C (p.Ile1721Leu)
c.5125A>C (p.Ile1709Leu)
c.1139A>C
c.697A>C
c.2603A>C
n.2519A>C
c.4639A>C (p.Ile1547Leu)
c.5389A>C (p.Ile1797Leu)
c.5290A>C (p.Ile1764Leu)
c.5224A>C (p.Ile1742Leu)
c.5206A>C (p.Ile1736Leu)
c.4858A>C (p.Ile1620Leu)
c.4738A>C (p.Ile1580Leu)
c.4949A>C (p.Asp1650Ala)
n.4980A>C
c.5365A>C (p.Ile1789Leu)
c.5302A>C (p.Ile1768Leu)
c.5293A>C (p.Ile1765Leu)
c.4903A>C (p.Ile1635Leu)
c.4762A>C (p.Ile1588Leu)
c.5194A>C (p.Ile1732Leu)
8g.41668537C>ACA460782124ANK1c.5247G>T (p.Ser1749=)
c.5343G>T (p.Ser1781=)
c.5160G>T (p.Ser1720=)
c.5124G>T (p.Ser1708=)
c.1138G>T
c.696G>T
c.2602G>T
n.2518G>T
c.4638G>T (p.Ser1546=)
c.5388G>T (p.Ser1796=)
c.5289G>T (p.Ser1763=)
c.5223G>T (p.Ser1741=)
c.5205G>T (p.Ser1735=)
c.4857G>T (p.Ser1619=)
c.4737G>T (p.Ser1579=)
c.4948G>T (p.Asp1650Tyr)
n.4979G>T
c.5364G>T (p.Ser1788=)
c.5301G>T (p.Ser1767=)
c.5292G>T (p.Ser1764=)
c.4902G>T (p.Ser1634=)
c.4761G>T (p.Ser1587=)
c.5193G>T (p.Ser1731=)
8g.41668537C=CA1779071357ANK1c.5247G= (p.Ser1749=)
c.5343G= (p.Ser1781=)
c.5160G= (p.Ser1720=)
c.5124G= (p.Ser1708=)
c.1138G=
c.696G=
c.2602G=
n.2518G=
c.4638G= (p.Ser1546=)
c.5388G= (p.Ser1796=)
c.5289G= (p.Ser1763=)
c.5223G= (p.Ser1741=)
c.5205G= (p.Ser1735=)
c.4857G= (p.Ser1619=)
c.4737G= (p.Ser1579=)
c.4948G= (p.Asp1650=)
n.4979G=
c.5364G= (p.Ser1788=)
c.5301G= (p.Ser1767=)
c.5292G= (p.Ser1764=)
c.4902G= (p.Ser1634=)
c.4761G= (p.Ser1587=)
c.5193G= (p.Ser1731=)
8g.41668537C>GCA460782125ANK1c.5247G>C (p.Ser1749=)
c.5343G>C (p.Ser1781=)
c.5160G>C (p.Ser1720=)
c.5124G>C (p.Ser1708=)
c.1138G>C
c.696G>C
c.2602G>C
n.2518G>C
c.4638G>C (p.Ser1546=)
c.5388G>C (p.Ser1796=)
c.5289G>C (p.Ser1763=)
c.5223G>C (p.Ser1741=)
c.5205G>C (p.Ser1735=)
c.4857G>C (p.Ser1619=)
c.4737G>C (p.Ser1579=)
c.4948G>C (p.Asp1650His)
n.4979G>C
c.5364G>C (p.Ser1788=)
c.5301G>C (p.Ser1767=)
c.5292G>C (p.Ser1764=)
c.4902G>C (p.Ser1634=)
c.4761G>C (p.Ser1587=)
c.5193G>C (p.Ser1731=)
8g.41668537C>TCA4727359ANK1c.5247G>A (p.Ser1749=)
c.5343G>A (p.Ser1781=)
c.5160G>A (p.Ser1720=)
c.5124G>A (p.Ser1708=)
c.1138G>A
c.696G>A
c.2602G>A
n.2518G>A
c.4638G>A (p.Ser1546=)
c.5388G>A (p.Ser1796=)
c.5289G>A (p.Ser1763=)
c.5223G>A (p.Ser1741=)
c.5205G>A (p.Ser1735=)
c.4857G>A (p.Ser1619=)
c.4737G>A (p.Ser1579=)
c.4948G>A (p.Asp1650Asn)
n.4979G>A
c.5364G>A (p.Ser1788=)
c.5301G>A (p.Ser1767=)
c.5292G>A (p.Ser1764=)
c.4902G>A (p.Ser1634=)
c.4761G>A (p.Ser1587=)
c.5193G>A (p.Ser1731=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41668538G>ACA4727360ANK1c.5246C>T (p.Ser1749Leu)
c.5342C>T (p.Ser1781Leu)
c.5159C>T (p.Ser1720Leu)
c.5123C>T (p.Ser1708Leu)
c.1137C>T
c.695C>T
c.2601C>T
n.2517C>T
c.4637C>T (p.Ser1546Leu)
c.5387C>T (p.Ser1796Leu)
c.5288C>T (p.Ser1763Leu)
c.5222C>T (p.Ser1741Leu)
c.5204C>T (p.Ser1735Leu)
c.4856C>T (p.Ser1619Leu)
c.4736C>T (p.Ser1579Leu)
c.4947C>T (p.Leu1649=)
n.4978C>T
c.5363C>T (p.Ser1788Leu)
c.5300C>T (p.Ser1767Leu)
c.5291C>T (p.Ser1764Leu)
c.4901C>T (p.Ser1634Leu)
c.4760C>T (p.Ser1587Leu)
c.5192C>T (p.Ser1731Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41668538G>CCA371052157ANK1c.5246C>G (p.Ser1749Trp)
c.5342C>G (p.Ser1781Trp)
c.5159C>G (p.Ser1720Trp)
c.5123C>G (p.Ser1708Trp)
c.1137C>G
c.695C>G
c.2601C>G
n.2517C>G
c.4637C>G (p.Ser1546Trp)
c.5387C>G (p.Ser1796Trp)
c.5288C>G (p.Ser1763Trp)
c.5222C>G (p.Ser1741Trp)
c.5204C>G (p.Ser1735Trp)
c.4856C>G (p.Ser1619Trp)
c.4736C>G (p.Ser1579Trp)
c.4947C>G (p.Leu1649=)
n.4978C>G
c.5363C>G (p.Ser1788Trp)
c.5300C>G (p.Ser1767Trp)
c.5291C>G (p.Ser1764Trp)
c.4901C>G (p.Ser1634Trp)
c.4760C>G (p.Ser1587Trp)
c.5192C>G (p.Ser1731Trp)
8g.41668538G=CA1779071360ANK1c.5246C= (p.Ser1749=)
c.5342C= (p.Ser1781=)
c.5159C= (p.Ser1720=)
c.5123C= (p.Ser1708=)
c.1137C=
c.695C=
c.2601C=
n.2517C=
c.4637C= (p.Ser1546=)
c.5387C= (p.Ser1796=)
c.5288C= (p.Ser1763=)
c.5222C= (p.Ser1741=)
c.5204C= (p.Ser1735=)
c.4856C= (p.Ser1619=)
c.4736C= (p.Ser1579=)
c.4947C= (p.Leu1649=)
n.4978C=
c.5363C= (p.Ser1788=)
c.5300C= (p.Ser1767=)
c.5291C= (p.Ser1764=)
c.4901C= (p.Ser1634=)
c.4760C= (p.Ser1587=)
c.5192C= (p.Ser1731=)
8g.41668538G>TCA371052165ANK1c.5246C>A (p.Ser1749Ter)
c.5342C>A (p.Ser1781Ter)
c.5159C>A (p.Ser1720Ter)
c.5123C>A (p.Ser1708Ter)
c.1137C>A
c.695C>A
c.2601C>A
n.2517C>A
c.4637C>A (p.Ser1546Ter)
c.5387C>A (p.Ser1796Ter)
c.5288C>A (p.Ser1763Ter)
c.5222C>A (p.Ser1741Ter)
c.5204C>A (p.Ser1735Ter)
c.4856C>A (p.Ser1619Ter)
c.4736C>A (p.Ser1579Ter)
c.4947C>A (p.Leu1649=)
n.4978C>A
c.5363C>A (p.Ser1788Ter)
c.5300C>A (p.Ser1767Ter)
c.5291C>A (p.Ser1764Ter)
c.4901C>A (p.Ser1634Ter)
c.4760C>A (p.Ser1587Ter)
c.5192C>A (p.Ser1731Ter)
8g.41668539A>CCA371052171ANK1c.5245T>G (p.Ser1749Ala)
c.5341T>G (p.Ser1781Ala)
c.5158T>G (p.Ser1720Ala)
c.5122T>G (p.Ser1708Ala)
c.1136T>G
c.694T>G
c.2600T>G
n.2516T>G
c.4636T>G (p.Ser1546Ala)
c.5386T>G (p.Ser1796Ala)
c.5287T>G (p.Ser1763Ala)
c.5221T>G (p.Ser1741Ala)
c.5203T>G (p.Ser1735Ala)
c.4855T>G (p.Ser1619Ala)
c.4735T>G (p.Ser1579Ala)
c.4946T>G (p.Leu1649Arg)
n.4977T>G
c.5362T>G (p.Ser1788Ala)
c.5299T>G (p.Ser1767Ala)
c.5290T>G (p.Ser1764Ala)
c.4900T>G (p.Ser1634Ala)
c.4759T>G (p.Ser1587Ala)
c.5191T>G (p.Ser1731Ala)
8g.41668539A>GCA371052174ANK1c.5245T>C (p.Ser1749Pro)
c.5341T>C (p.Ser1781Pro)
c.5158T>C (p.Ser1720Pro)
c.5122T>C (p.Ser1708Pro)
c.1136T>C
c.694T>C
c.2600T>C
n.2516T>C
c.4636T>C (p.Ser1546Pro)
c.5386T>C (p.Ser1796Pro)
c.5287T>C (p.Ser1763Pro)
c.5221T>C (p.Ser1741Pro)
c.5203T>C (p.Ser1735Pro)
c.4855T>C (p.Ser1619Pro)
c.4735T>C (p.Ser1579Pro)
c.4946T>C (p.Leu1649Pro)
n.4977T>C
c.5362T>C (p.Ser1788Pro)
c.5299T>C (p.Ser1767Pro)
c.5290T>C (p.Ser1764Pro)
c.4900T>C (p.Ser1634Pro)
c.4759T>C (p.Ser1587Pro)
c.5191T>C (p.Ser1731Pro)
8g.41668539A>TCA371052177ANK1c.5245T>A (p.Ser1749Thr)
c.5341T>A (p.Ser1781Thr)
c.5158T>A (p.Ser1720Thr)
c.5122T>A (p.Ser1708Thr)
c.1136T>A
c.694T>A
c.2600T>A
n.2516T>A
c.4636T>A (p.Ser1546Thr)
c.5386T>A (p.Ser1796Thr)
c.5287T>A (p.Ser1763Thr)
c.5221T>A (p.Ser1741Thr)
c.5203T>A (p.Ser1735Thr)
c.4855T>A (p.Ser1619Thr)
c.4735T>A (p.Ser1579Thr)
c.4946T>A (p.Leu1649His)
n.4977T>A
c.5362T>A (p.Ser1788Thr)
c.5299T>A (p.Ser1767Thr)
c.5290T>A (p.Ser1764Thr)
c.4900T>A (p.Ser1634Thr)
c.4759T>A (p.Ser1587Thr)
c.5191T>A (p.Ser1731Thr)
8g.41668540G>ACA460540311ANK1c.5244C>T (p.Gly1748=)
c.5340C>T (p.Gly1780=)
c.5157C>T (p.Gly1719=)
c.5121C>T (p.Gly1707=)
c.1135C>T
c.693C>T
c.2599C>T
n.2515C>T
c.4635C>T (p.Gly1545=)
c.5385C>T (p.Gly1795=)
c.5286C>T (p.Gly1762=)
c.5220C>T (p.Gly1740=)
c.5202C>T (p.Gly1734=)
c.4854C>T (p.Gly1618=)
c.4734C>T (p.Gly1578=)
c.4945C>T (p.Leu1649Phe)
n.4976C>T
c.5361C>T (p.Gly1787=)
c.5298C>T (p.Gly1766=)
c.5289C>T (p.Gly1763=)
c.4899C>T (p.Gly1633=)
c.4758C>T (p.Gly1586=)
c.5190C>T (p.Gly1730=)
8g.41668540G>CCA460540309ANK1c.5244C>G (p.Gly1748=)
c.5340C>G (p.Gly1780=)
c.5157C>G (p.Gly1719=)
c.5121C>G (p.Gly1707=)
c.1135C>G
c.693C>G
c.2599C>G
n.2515C>G
c.4635C>G (p.Gly1545=)
c.5385C>G (p.Gly1795=)
c.5286C>G (p.Gly1762=)
c.5220C>G (p.Gly1740=)
c.5202C>G (p.Gly1734=)
c.4854C>G (p.Gly1618=)
c.4734C>G (p.Gly1578=)
c.4945C>G (p.Leu1649Val)
n.4976C>G
c.5361C>G (p.Gly1787=)
c.5298C>G (p.Gly1766=)
c.5289C>G (p.Gly1763=)
c.4899C>G (p.Gly1633=)
c.4758C>G (p.Gly1586=)
c.5190C>G (p.Gly1730=)
8g.41668540G>TCA460540307ANK1c.5244C>A (p.Gly1748=)
c.5340C>A (p.Gly1780=)
c.5157C>A (p.Gly1719=)
c.5121C>A (p.Gly1707=)
c.1135C>A
c.693C>A
c.2599C>A
n.2515C>A
c.4635C>A (p.Gly1545=)
c.5385C>A (p.Gly1795=)
c.5286C>A (p.Gly1762=)
c.5220C>A (p.Gly1740=)
c.5202C>A (p.Gly1734=)
c.4854C>A (p.Gly1618=)
c.4734C>A (p.Gly1578=)
c.4945C>A (p.Leu1649Ile)
n.4976C>A
c.5361C>A (p.Gly1787=)
c.5298C>A (p.Gly1766=)
c.5289C>A (p.Gly1763=)
c.4899C>A (p.Gly1633=)
c.4758C>A (p.Gly1586=)
c.5190C>A (p.Gly1730=)
8g.41668541C>ACA371052182ANK1c.5243G>T (p.Gly1748Val)
c.5339G>T (p.Gly1780Val)
c.5156G>T (p.Gly1719Val)
c.5120G>T (p.Gly1707Val)
c.1134G>T
c.692G>T
c.2598G>T
n.2514G>T
c.4634G>T (p.Gly1545Val)
c.5384G>T (p.Gly1795Val)
c.5285G>T (p.Gly1762Val)
c.5219G>T (p.Gly1740Val)
c.5201G>T (p.Gly1734Val)
c.4853G>T (p.Gly1618Val)
c.4733G>T (p.Gly1578Val)
c.4944G>T (p.Arg1648=)
n.4975G>T
c.5360G>T (p.Gly1787Val)
c.5297G>T (p.Gly1766Val)
c.5288G>T (p.Gly1763Val)
c.4898G>T (p.Gly1633Val)
c.4757G>T (p.Gly1586Val)
c.5189G>T (p.Gly1730Val)
8g.41668541C>GCA371052183ANK1c.5243G>C (p.Gly1748Ala)
c.5339G>C (p.Gly1780Ala)
c.5156G>C (p.Gly1719Ala)
c.5120G>C (p.Gly1707Ala)
c.1134G>C
c.692G>C
c.2598G>C
n.2514G>C
c.4634G>C (p.Gly1545Ala)
c.5384G>C (p.Gly1795Ala)
c.5285G>C (p.Gly1762Ala)
c.5219G>C (p.Gly1740Ala)
c.5201G>C (p.Gly1734Ala)
c.4853G>C (p.Gly1618Ala)
c.4733G>C (p.Gly1578Ala)
c.4944G>C (p.Arg1648=)
n.4975G>C
c.5360G>C (p.Gly1787Ala)
c.5297G>C (p.Gly1766Ala)
c.5288G>C (p.Gly1763Ala)
c.4898G>C (p.Gly1633Ala)
c.4757G>C (p.Gly1586Ala)
c.5189G>C (p.Gly1730Ala)
8g.41668541C>TCA371052186ANK1c.5243G>A (p.Gly1748Asp)
c.5339G>A (p.Gly1780Asp)
c.5156G>A (p.Gly1719Asp)
c.5120G>A (p.Gly1707Asp)
c.1134G>A
c.692G>A
c.2598G>A
n.2514G>A
c.4634G>A (p.Gly1545Asp)
c.5384G>A (p.Gly1795Asp)
c.5285G>A (p.Gly1762Asp)
c.5219G>A (p.Gly1740Asp)
c.5201G>A (p.Gly1734Asp)
c.4853G>A (p.Gly1618Asp)
c.4733G>A (p.Gly1578Asp)
c.4944G>A (p.Arg1648=)
n.4975G>A
c.5360G>A (p.Gly1787Asp)
c.5297G>A (p.Gly1766Asp)
c.5288G>A (p.Gly1763Asp)
c.4898G>A (p.Gly1633Asp)
c.4757G>A (p.Gly1586Asp)
c.5189G>A (p.Gly1730Asp)
8g.41668542C>ACA371052195ANK1c.5242G>T (p.Gly1748Cys)
c.5338G>T (p.Gly1780Cys)
c.5155G>T (p.Gly1719Cys)
c.5119G>T (p.Gly1707Cys)
c.1133G>T
c.691G>T
c.2597G>T
n.2513G>T
c.4633G>T (p.Gly1545Cys)
c.5383G>T (p.Gly1795Cys)
c.5284G>T (p.Gly1762Cys)
c.5218G>T (p.Gly1740Cys)
c.5200G>T (p.Gly1734Cys)
c.4852G>T (p.Gly1618Cys)
c.4732G>T (p.Gly1578Cys)
c.4943G>T (p.Arg1648Leu)
n.4974G>T
c.5359G>T (p.Gly1787Cys)
c.5296G>T (p.Gly1766Cys)
c.5287G>T (p.Gly1763Cys)
c.4897G>T (p.Gly1633Cys)
c.4756G>T (p.Gly1586Cys)
c.5188G>T (p.Gly1730Cys)
 COSMIC COSMIC
8g.41668542C=CA1779071363ANK1c.5242G= (p.Gly1748=)
c.5338G= (p.Gly1780=)
c.5155G= (p.Gly1719=)
c.5119G= (p.Gly1707=)
c.1133G=
c.691G=
c.2597G=
n.2513G=
c.4633G= (p.Gly1545=)
c.5383G= (p.Gly1795=)
c.5284G= (p.Gly1762=)
c.5218G= (p.Gly1740=)
c.5200G= (p.Gly1734=)
c.4852G= (p.Gly1618=)
c.4732G= (p.Gly1578=)
c.4943G= (p.Arg1648=)
n.4974G=
c.5359G= (p.Gly1787=)
c.5296G= (p.Gly1766=)
c.5287G= (p.Gly1763=)
c.4897G= (p.Gly1633=)
c.4756G= (p.Gly1586=)
c.5188G= (p.Gly1730=)
8g.41668542C>GCA371052194ANK1c.5242G>C (p.Gly1748Arg)
c.5338G>C (p.Gly1780Arg)
c.5155G>C (p.Gly1719Arg)
c.5119G>C (p.Gly1707Arg)
c.1133G>C
c.691G>C
c.2597G>C
n.2513G>C
c.4633G>C (p.Gly1545Arg)
c.5383G>C (p.Gly1795Arg)
c.5284G>C (p.Gly1762Arg)
c.5218G>C (p.Gly1740Arg)
c.5200G>C (p.Gly1734Arg)
c.4852G>C (p.Gly1618Arg)
c.4732G>C (p.Gly1578Arg)
c.4943G>C (p.Arg1648Pro)
n.4974G>C
c.5359G>C (p.Gly1787Arg)
c.5296G>C (p.Gly1766Arg)
c.5287G>C (p.Gly1763Arg)
c.4897G>C (p.Gly1633Arg)
c.4756G>C (p.Gly1586Arg)
c.5188G>C (p.Gly1730Arg)
8g.41668542C>TCA4727361ANK1c.5242G>A (p.Gly1748Ser)
c.5338G>A (p.Gly1780Ser)
c.5155G>A (p.Gly1719Ser)
c.5119G>A (p.Gly1707Ser)
c.1133G>A
c.691G>A
c.2597G>A
n.2513G>A
c.4633G>A (p.Gly1545Ser)
c.5383G>A (p.Gly1795Ser)
c.5284G>A (p.Gly1762Ser)
c.5218G>A (p.Gly1740Ser)
c.5200G>A (p.Gly1734Ser)
c.4852G>A (p.Gly1618Ser)
c.4732G>A (p.Gly1578Ser)
c.4943G>A (p.Arg1648Gln)
n.4974G>A
c.5359G>A (p.Gly1787Ser)
c.5296G>A (p.Gly1766Ser)
c.5287G>A (p.Gly1763Ser)
c.4897G>A (p.Gly1633Ser)
c.4756G>A (p.Gly1586Ser)
c.5188G>A (p.Gly1730Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41668543G>ACA4727362ANK1c.5241C>T (p.Asp1747=)
c.5337C>T (p.Asp1779=)
c.5154C>T (p.Asp1718=)
c.5118C>T (p.Asp1706=)
c.1132C>T
c.690C>T
c.2596C>T
n.2512C>T
c.4632C>T (p.Asp1544=)
c.5382C>T (p.Asp1794=)
c.5283C>T (p.Asp1761=)
c.5217C>T (p.Asp1739=)
c.5199C>T (p.Asp1733=)
c.4851C>T (p.Asp1617=)
c.4731C>T (p.Asp1577=)
c.4942C>T (p.Arg1648Trp)
n.4973C>T
c.5358C>T (p.Asp1786=)
c.5295C>T (p.Asp1765=)
c.5286C>T (p.Asp1762=)
c.4896C>T (p.Asp1632=)
c.4755C>T (p.Asp1585=)
c.5187C>T (p.Asp1729=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.41668543G>CCA371052199ANK1c.5241C>G (p.Asp1747Glu)
c.5337C>G (p.Asp1779Glu)
c.5154C>G (p.Asp1718Glu)
c.5118C>G (p.Asp1706Glu)
c.1132C>G
c.690C>G
c.2596C>G
n.2512C>G
c.4632C>G (p.Asp1544Glu)
c.5382C>G (p.Asp1794Glu)
c.5283C>G (p.Asp1761Glu)
c.5217C>G (p.Asp1739Glu)
c.5199C>G (p.Asp1733Glu)
c.4851C>G (p.Asp1617Glu)
c.4731C>G (p.Asp1577Glu)
c.4942C>G (p.Arg1648Gly)
n.4973C>G
c.5358C>G (p.Asp1786Glu)
c.5295C>G (p.Asp1765Glu)
c.5286C>G (p.Asp1762Glu)
c.4896C>G (p.Asp1632Glu)
c.4755C>G (p.Asp1585Glu)
c.5187C>G (p.Asp1729Glu)
8g.41668543G=CA1779071368ANK1c.5241C= (p.Asp1747=)
c.5337C= (p.Asp1779=)
c.5154C= (p.Asp1718=)
c.5118C= (p.Asp1706=)
c.1132C=
c.690C=
c.2596C=
n.2512C=
c.4632C= (p.Asp1544=)
c.5382C= (p.Asp1794=)
c.5283C= (p.Asp1761=)
c.5217C= (p.Asp1739=)
c.5199C= (p.Asp1733=)
c.4851C= (p.Asp1617=)
c.4731C= (p.Asp1577=)
c.4942C= (p.Arg1648=)
n.4973C=
c.5358C= (p.Asp1786=)
c.5295C= (p.Asp1765=)
c.5286C= (p.Asp1762=)
c.4896C= (p.Asp1632=)
c.4755C= (p.Asp1585=)
c.5187C= (p.Asp1729=)
8g.41668543G>TCA371052206ANK1c.5241C>A (p.Asp1747Glu)
c.5337C>A (p.Asp1779Glu)
c.5154C>A (p.Asp1718Glu)
c.5118C>A (p.Asp1706Glu)
c.1132C>A
c.690C>A
c.2596C>A
n.2512C>A
c.4632C>A (p.Asp1544Glu)
c.5382C>A (p.Asp1794Glu)
c.5283C>A (p.Asp1761Glu)
c.5217C>A (p.Asp1739Glu)
c.5199C>A (p.Asp1733Glu)
c.4851C>A (p.Asp1617Glu)
c.4731C>A (p.Asp1577Glu)
c.4942C>A (p.Arg1648=)
n.4973C>A
c.5358C>A (p.Asp1786Glu)
c.5295C>A (p.Asp1765Glu)
c.5286C>A (p.Asp1762Glu)
c.4896C>A (p.Asp1632Glu)
c.4755C>A (p.Asp1585Glu)
c.5187C>A (p.Asp1729Glu)
 COSMIC COSMIC
8g.41668544T>ACA371052209ANK1c.5240A>T (p.Asp1747Val)
c.5336A>T (p.Asp1779Val)
c.5153A>T (p.Asp1718Val)
c.5117A>T (p.Asp1706Val)
c.1131A>T
c.689A>T
c.2595A>T
n.2511A>T
c.4631A>T (p.Asp1544Val)
c.5381A>T (p.Asp1794Val)
c.5282A>T (p.Asp1761Val)
c.5216A>T (p.Asp1739Val)
c.5198A>T (p.Asp1733Val)
c.4850A>T (p.Asp1617Val)
c.4730A>T (p.Asp1577Val)
c.4941A>T (p.Arg1647Ser)
n.4972A>T
c.5357A>T (p.Asp1786Val)
c.5294A>T (p.Asp1765Val)
c.5285A>T (p.Asp1762Val)
c.4895A>T (p.Asp1632Val)
c.4754A>T (p.Asp1585Val)
c.5186A>T (p.Asp1729Val)
8g.41668544T>CCA371052218ANK1c.5240A>G (p.Asp1747Gly)
c.5336A>G (p.Asp1779Gly)
c.5153A>G (p.Asp1718Gly)
c.5117A>G (p.Asp1706Gly)
c.1131A>G
c.689A>G
c.2595A>G
n.2511A>G
c.4631A>G (p.Asp1544Gly)
c.5381A>G (p.Asp1794Gly)
c.5282A>G (p.Asp1761Gly)
c.5216A>G (p.Asp1739Gly)
c.5198A>G (p.Asp1733Gly)
c.4850A>G (p.Asp1617Gly)
c.4730A>G (p.Asp1577Gly)
c.4941A>G (p.Arg1647=)
n.4972A>G
c.5357A>G (p.Asp1786Gly)
c.5294A>G (p.Asp1765Gly)
c.5285A>G (p.Asp1762Gly)
c.4895A>G (p.Asp1632Gly)
c.4754A>G (p.Asp1585Gly)
c.5186A>G (p.Asp1729Gly)
 dbSNP
8g.41668544T>GCA371052213ANK1c.5240A>C (p.Asp1747Ala)
c.5336A>C (p.Asp1779Ala)
c.5153A>C (p.Asp1718Ala)
c.5117A>C (p.Asp1706Ala)
c.1131A>C
c.689A>C
c.2595A>C
n.2511A>C
c.4631A>C (p.Asp1544Ala)
c.5381A>C (p.Asp1794Ala)
c.5282A>C (p.Asp1761Ala)
c.5216A>C (p.Asp1739Ala)
c.5198A>C (p.Asp1733Ala)
c.4850A>C (p.Asp1617Ala)
c.4730A>C (p.Asp1577Ala)
c.4941A>C (p.Arg1647Ser)
n.4972A>C
c.5357A>C (p.Asp1786Ala)
c.5294A>C (p.Asp1765Ala)
c.5285A>C (p.Asp1762Ala)
c.4895A>C (p.Asp1632Ala)
c.4754A>C (p.Asp1585Ala)
c.5186A>C (p.Asp1729Ala)
8g.41668544T=CA1779071371ANK1c.5240A= (p.Asp1747=)
c.5336A= (p.Asp1779=)
c.5153A= (p.Asp1718=)
c.5117A= (p.Asp1706=)
c.1131A=
c.689A=
c.2595A=
n.2511A=
c.4631A= (p.Asp1544=)
c.5381A= (p.Asp1794=)
c.5282A= (p.Asp1761=)
c.5216A= (p.Asp1739=)
c.5198A= (p.Asp1733=)
c.4850A= (p.Asp1617=)
c.4730A= (p.Asp1577=)
c.4941A= (p.Arg1647=)
n.4972A=
c.5357A= (p.Asp1786=)
c.5294A= (p.Asp1765=)
c.5285A= (p.Asp1762=)
c.4895A= (p.Asp1632=)
c.4754A= (p.Asp1585=)
c.5186A= (p.Asp1729=)
8g.41668545C>ACA371052221ANK1c.5239G>T (p.Asp1747Tyr)
c.5335G>T (p.Asp1779Tyr)
c.5152G>T (p.Asp1718Tyr)
c.5116G>T (p.Asp1706Tyr)
c.1130G>T
c.688G>T
c.2594G>T
n.2510G>T
c.4630G>T (p.Asp1544Tyr)
c.5380G>T (p.Asp1794Tyr)
c.5281G>T (p.Asp1761Tyr)
c.5215G>T (p.Asp1739Tyr)
c.5197G>T (p.Asp1733Tyr)
c.4849G>T (p.Asp1617Tyr)
c.4729G>T (p.Asp1577Tyr)
c.4940G>T (p.Arg1647Ile)
n.4971G>T
c.5356G>T (p.Asp1786Tyr)
c.5293G>T (p.Asp1765Tyr)
c.5284G>T (p.Asp1762Tyr)
c.4894G>T (p.Asp1632Tyr)
c.4753G>T (p.Asp1585Tyr)
c.5185G>T (p.Asp1729Tyr)
8g.41668545C>GCA371052222ANK1c.5239G>C (p.Asp1747His)
c.5335G>C (p.Asp1779His)
c.5152G>C (p.Asp1718His)
c.5116G>C (p.Asp1706His)
c.1130G>C
c.688G>C
c.2594G>C
n.2510G>C
c.4630G>C (p.Asp1544His)
c.5380G>C (p.Asp1794His)
c.5281G>C (p.Asp1761His)
c.5215G>C (p.Asp1739His)
c.5197G>C (p.Asp1733His)
c.4849G>C (p.Asp1617His)
c.4729G>C (p.Asp1577His)
c.4940G>C (p.Arg1647Thr)
n.4971G>C
c.5356G>C (p.Asp1786His)
c.5293G>C (p.Asp1765His)
c.5284G>C (p.Asp1762His)
c.4894G>C (p.Asp1632His)
c.4753G>C (p.Asp1585His)
c.5185G>C (p.Asp1729His)
 gnomAD v4
8g.41668545C>TCA371052224ANK1c.5239G>A (p.Asp1747Asn)
c.5335G>A (p.Asp1779Asn)
c.5152G>A (p.Asp1718Asn)
c.5116G>A (p.Asp1706Asn)
c.1130G>A
c.688G>A
c.2594G>A
n.2510G>A
c.4630G>A (p.Asp1544Asn)
c.5380G>A (p.Asp1794Asn)
c.5281G>A (p.Asp1761Asn)
c.5215G>A (p.Asp1739Asn)
c.5197G>A (p.Asp1733Asn)
c.4849G>A (p.Asp1617Asn)
c.4729G>A (p.Asp1577Asn)
c.4940G>A (p.Arg1647Lys)
n.4971G>A
c.5356G>A (p.Asp1786Asn)
c.5293G>A (p.Asp1765Asn)
c.5284G>A (p.Asp1762Asn)
c.4894G>A (p.Asp1632Asn)
c.4753G>A (p.Asp1585Asn)
c.5185G>A (p.Asp1729Asn)
8g.41668546T>ACA460540329ANK1c.5238A>T (p.Ala1746=)
c.5334A>T (p.Ala1778=)
c.5151A>T (p.Ala1717=)
c.5115A>T (p.Ala1705=)
c.1129A>T
c.687A>T
c.2593A>T
n.2509A>T
c.4629A>T (p.Ala1543=)
c.5379A>T (p.Ala1793=)
c.5280A>T (p.Ala1760=)
c.5214A>T (p.Ala1738=)
c.5196A>T (p.Ala1732=)
c.4848A>T (p.Ala1616=)
c.4728A>T (p.Ala1576=)
c.4939A>T (p.Arg1647Ter)
n.4970A>T
c.5355A>T (p.Ala1785=)
c.5292A>T (p.Ala1764=)
c.5283A>T (p.Ala1761=)
c.4893A>T (p.Ala1631=)
c.4752A>T (p.Ala1584=)
c.5184A>T (p.Ala1728=)
8g.41668546T>CCA460540331ANK1c.5238A>G (p.Ala1746=)
c.5334A>G (p.Ala1778=)
c.5151A>G (p.Ala1717=)
c.5115A>G (p.Ala1705=)
c.1129A>G
c.687A>G
c.2593A>G
n.2509A>G
c.4629A>G (p.Ala1543=)
c.5379A>G (p.Ala1793=)
c.5280A>G (p.Ala1760=)
c.5214A>G (p.Ala1738=)
c.5196A>G (p.Ala1732=)
c.4848A>G (p.Ala1616=)
c.4728A>G (p.Ala1576=)
c.4939A>G (p.Arg1647Gly)
n.4970A>G
c.5355A>G (p.Ala1785=)
c.5292A>G (p.Ala1764=)
c.5283A>G (p.Ala1761=)
c.4893A>G (p.Ala1631=)
c.4752A>G (p.Ala1584=)
c.5184A>G (p.Ala1728=)
8g.41668546T>GCA460540337ANK1c.5238A>C (p.Ala1746=)
c.5334A>C (p.Ala1778=)
c.5151A>C (p.Ala1717=)
c.5115A>C (p.Ala1705=)
c.1129A>C
c.687A>C
c.2593A>C
n.2509A>C
c.4629A>C (p.Ala1543=)
c.5379A>C (p.Ala1793=)
c.5280A>C (p.Ala1760=)
c.5214A>C (p.Ala1738=)
c.5196A>C (p.Ala1732=)
c.4848A>C (p.Ala1616=)
c.4728A>C (p.Ala1576=)
c.4939A>C (p.Arg1647=)
n.4970A>C
c.5355A>C (p.Ala1785=)
c.5292A>C (p.Ala1764=)
c.5283A>C (p.Ala1761=)
c.4893A>C (p.Ala1631=)
c.4752A>C (p.Ala1584=)
c.5184A>C (p.Ala1728=)
 gnomAD v4
8g.41668547G>ACA371052226ANK1c.5237C>T (p.Ala1746Val)
c.5333C>T (p.Ala1778Val)
c.5150C>T (p.Ala1717Val)
c.5114C>T (p.Ala1705Val)
c.1128C>T
c.686C>T
c.2592C>T
n.2508C>T
c.4628C>T (p.Ala1543Val)
c.5378C>T (p.Ala1793Val)
c.5279C>T (p.Ala1760Val)
c.5213C>T (p.Ala1738Val)
c.5195C>T (p.Ala1732Val)
c.4847C>T (p.Ala1616Val)
c.4727C>T (p.Ala1576Val)
c.4938C>T (p.Cys1646=)
n.4969C>T
c.5354C>T (p.Ala1785Val)
c.5291C>T (p.Ala1764Val)
c.5282C>T (p.Ala1761Val)
c.4892C>T (p.Ala1631Val)
c.4751C>T (p.Ala1584Val)
c.5183C>T (p.Ala1728Val)
 gnomAD v4
8g.41668547G>CCA371052228ANK1c.5237C>G (p.Ala1746Gly)
c.5333C>G (p.Ala1778Gly)
c.5150C>G (p.Ala1717Gly)
c.5114C>G (p.Ala1705Gly)
c.1128C>G
c.686C>G
c.2592C>G
n.2508C>G
c.4628C>G (p.Ala1543Gly)
c.5378C>G (p.Ala1793Gly)
c.5279C>G (p.Ala1760Gly)
c.5213C>G (p.Ala1738Gly)
c.5195C>G (p.Ala1732Gly)
c.4847C>G (p.Ala1616Gly)
c.4727C>G (p.Ala1576Gly)
c.4938C>G (p.Cys1646Trp)
n.4969C>G
c.5354C>G (p.Ala1785Gly)
c.5291C>G (p.Ala1764Gly)
c.5282C>G (p.Ala1761Gly)
c.4892C>G (p.Ala1631Gly)
c.4751C>G (p.Ala1584Gly)
c.5183C>G (p.Ala1728Gly)
8g.41668547G>TCA371052233ANK1c.5237C>A (p.Ala1746Glu)
c.5333C>A (p.Ala1778Glu)
c.5150C>A (p.Ala1717Glu)
c.5114C>A (p.Ala1705Glu)
c.1128C>A
c.686C>A
c.2592C>A
n.2508C>A
c.4628C>A (p.Ala1543Glu)
c.5378C>A (p.Ala1793Glu)
c.5279C>A (p.Ala1760Glu)
c.5213C>A (p.Ala1738Glu)
c.5195C>A (p.Ala1732Glu)
c.4847C>A (p.Ala1616Glu)
c.4727C>A (p.Ala1576Glu)
c.4938C>A (p.Cys1646Ter)
n.4969C>A
c.5354C>A (p.Ala1785Glu)
c.5291C>A (p.Ala1764Glu)
c.5282C>A (p.Ala1761Glu)
c.4892C>A (p.Ala1631Glu)
c.4751C>A (p.Ala1584Glu)
c.5183C>A (p.Ala1728Glu)
8g.41668548C>ACA371052236ANK1c.5236G>T (p.Ala1746Ser)
c.5332G>T (p.Ala1778Ser)
c.5149G>T (p.Ala1717Ser)
c.5113G>T (p.Ala1705Ser)
c.1127G>T
c.685G>T
c.2591G>T
n.2507G>T
c.4627G>T (p.Ala1543Ser)
c.5377G>T (p.Ala1793Ser)
c.5278G>T (p.Ala1760Ser)
c.5212G>T (p.Ala1738Ser)
c.5194G>T (p.Ala1732Ser)
c.4846G>T (p.Ala1616Ser)
c.4726G>T (p.Ala1576Ser)
c.4937G>T (p.Cys1646Phe)
n.4968G>T
c.5353G>T (p.Ala1785Ser)
c.5290G>T (p.Ala1764Ser)
c.5281G>T (p.Ala1761Ser)
c.4891G>T (p.Ala1631Ser)
c.4750G>T (p.Ala1584Ser)
c.5182G>T (p.Ala1728Ser)
8g.41668548C>GCA371052237ANK1c.5236G>C (p.Ala1746Pro)
c.5332G>C (p.Ala1778Pro)
c.5149G>C (p.Ala1717Pro)
c.5113G>C (p.Ala1705Pro)
c.1127G>C
c.685G>C
c.2591G>C
n.2507G>C
c.4627G>C (p.Ala1543Pro)
c.5377G>C (p.Ala1793Pro)
c.5278G>C (p.Ala1760Pro)
c.5212G>C (p.Ala1738Pro)
c.5194G>C (p.Ala1732Pro)
c.4846G>C (p.Ala1616Pro)
c.4726G>C (p.Ala1576Pro)
c.4937G>C (p.Cys1646Ser)
n.4968G>C
c.5353G>C (p.Ala1785Pro)
c.5290G>C (p.Ala1764Pro)
c.5281G>C (p.Ala1761Pro)
c.4891G>C (p.Ala1631Pro)
c.4750G>C (p.Ala1584Pro)
c.5182G>C (p.Ala1728Pro)
 gnomAD v4
8g.41668548C>TCA371052239ANK1c.5236G>A (p.Ala1746Thr)
c.5332G>A (p.Ala1778Thr)
c.5149G>A (p.Ala1717Thr)
c.5113G>A (p.Ala1705Thr)
c.1127G>A
c.685G>A
c.2591G>A
n.2507G>A
c.4627G>A (p.Ala1543Thr)
c.5377G>A (p.Ala1793Thr)
c.5278G>A (p.Ala1760Thr)
c.5212G>A (p.Ala1738Thr)
c.5194G>A (p.Ala1732Thr)
c.4846G>A (p.Ala1616Thr)
c.4726G>A (p.Ala1576Thr)
c.4937G>A (p.Cys1646Tyr)
n.4968G>A
c.5353G>A (p.Ala1785Thr)
c.5290G>A (p.Ala1764Thr)
c.5281G>A (p.Ala1761Thr)
c.4891G>A (p.Ala1631Thr)
c.4750G>A (p.Ala1584Thr)
c.5182G>A (p.Ala1728Thr)
8g.41668549A=CA1779071374ANK1c.5235T= (p.Asp1745=)
c.5331T= (p.Asp1777=)
c.5148T= (p.Asp1716=)
c.5112T= (p.Asp1704=)
c.1126T=
c.684T=
c.2590T=
n.2506T=
c.4626T= (p.Asp1542=)
c.5376T= (p.Asp1792=)
c.5277T= (p.Asp1759=)
c.5211T= (p.Asp1737=)
c.5193T= (p.Asp1731=)
c.4845T= (p.Asp1615=)
c.4725T= (p.Asp1575=)
c.4936T= (p.Cys1646=)
n.4967T=
c.5352T= (p.Asp1784=)
c.5289T= (p.Asp1763=)
c.5280T= (p.Asp1760=)
c.4890T= (p.Asp1630=)
c.4749T= (p.Asp1583=)
c.5181T= (p.Asp1727=)
8g.41668549A>CCA371052241ANK1c.5235T>G (p.Asp1745Glu)
c.5331T>G (p.Asp1777Glu)
c.5148T>G (p.Asp1716Glu)
c.5112T>G (p.Asp1704Glu)
c.1126T>G
c.684T>G
c.2590T>G
n.2506T>G
c.4626T>G (p.Asp1542Glu)
c.5376T>G (p.Asp1792Glu)
c.5277T>G (p.Asp1759Glu)
c.5211T>G (p.Asp1737Glu)
c.5193T>G (p.Asp1731Glu)
c.4845T>G (p.Asp1615Glu)
c.4725T>G (p.Asp1575Glu)
c.4936T>G (p.Cys1646Gly)
n.4967T>G
c.5352T>G (p.Asp1784Glu)
c.5289T>G (p.Asp1763Glu)
c.5280T>G (p.Asp1760Glu)
c.4890T>G (p.Asp1630Glu)
c.4749T>G (p.Asp1583Glu)
c.5181T>G (p.Asp1727Glu)
8g.41668549A>GCA460540348ANK1c.5235T>C (p.Asp1745=)
c.5331T>C (p.Asp1777=)
c.5148T>C (p.Asp1716=)
c.5112T>C (p.Asp1704=)
c.1126T>C
c.684T>C
c.2590T>C
n.2506T>C
c.4626T>C (p.Asp1542=)
c.5376T>C (p.Asp1792=)
c.5277T>C (p.Asp1759=)
c.5211T>C (p.Asp1737=)
c.5193T>C (p.Asp1731=)
c.4845T>C (p.Asp1615=)
c.4725T>C (p.Asp1575=)
c.4936T>C (p.Cys1646Arg)
n.4967T>C
c.5352T>C (p.Asp1784=)
c.5289T>C (p.Asp1763=)
c.5280T>C (p.Asp1760=)
c.4890T>C (p.Asp1630=)
c.4749T>C (p.Asp1583=)
c.5181T>C (p.Asp1727=)
8g.41668549A>TCA175914403ANK1c.5235T>A (p.Asp1745Glu)
c.5331T>A (p.Asp1777Glu)
c.5148T>A (p.Asp1716Glu)
c.5112T>A (p.Asp1704Glu)
c.1126T>A
c.684T>A
c.2590T>A
n.2506T>A
c.4626T>A (p.Asp1542Glu)
c.5376T>A (p.Asp1792Glu)
c.5277T>A (p.Asp1759Glu)
c.5211T>A (p.Asp1737Glu)
c.5193T>A (p.Asp1731Glu)
c.4845T>A (p.Asp1615Glu)
c.4725T>A (p.Asp1575Glu)
c.4936T>A (p.Cys1646Ser)
n.4967T>A
c.5352T>A (p.Asp1784Glu)
c.5289T>A (p.Asp1763Glu)
c.5280T>A (p.Asp1760Glu)
c.4890T>A (p.Asp1630Glu)
c.4749T>A (p.Asp1583Glu)
c.5181T>A (p.Asp1727Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.41668550T>ACA371052245ANK1c.5234A>T (p.Asp1745Val)
c.5330A>T (p.Asp1777Val)
c.5147A>T (p.Asp1716Val)
c.5111A>T (p.Asp1704Val)
c.1125A>T
c.683A>T
c.2589A>T
n.2505A>T
c.4625A>T (p.Asp1542Val)
c.5375A>T (p.Asp1792Val)
c.5276A>T (p.Asp1759Val)
c.5210A>T (p.Asp1737Val)
c.5192A>T (p.Asp1731Val)
c.4844A>T (p.Asp1615Val)
c.4724A>T (p.Asp1575Val)
c.4935A>T (p.Gly1645=)
n.4966A>T
c.5351A>T (p.Asp1784Val)
c.5288A>T (p.Asp1763Val)
c.5279A>T (p.Asp1760Val)
c.4889A>T (p.Asp1630Val)
c.4748A>T (p.Asp1583Val)
c.5180A>T (p.Asp1727Val)
 dbSNP gnomAD v3 gnomAD v4
8g.41668550T>CCA371052246ANK1c.5234A>G (p.Asp1745Gly)
c.5330A>G (p.Asp1777Gly)
c.5147A>G (p.Asp1716Gly)
c.5111A>G (p.Asp1704Gly)
c.1125A>G
c.683A>G
c.2589A>G
n.2505A>G
c.4625A>G (p.Asp1542Gly)
c.5375A>G (p.Asp1792Gly)
c.5276A>G (p.Asp1759Gly)
c.5210A>G (p.Asp1737Gly)
c.5192A>G (p.Asp1731Gly)
c.4844A>G (p.Asp1615Gly)
c.4724A>G (p.Asp1575Gly)
c.4935A>G (p.Gly1645=)
n.4966A>G
c.5351A>G (p.Asp1784Gly)
c.5288A>G (p.Asp1763Gly)
c.5279A>G (p.Asp1760Gly)
c.4889A>G (p.Asp1630Gly)
c.4748A>G (p.Asp1583Gly)
c.5180A>G (p.Asp1727Gly)
8g.41668550T>GCA371052247ANK1c.5234A>C (p.Asp1745Ala)
c.5330A>C (p.Asp1777Ala)
c.5147A>C (p.Asp1716Ala)
c.5111A>C (p.Asp1704Ala)
c.1125A>C
c.683A>C
c.2589A>C
n.2505A>C
c.4625A>C (p.Asp1542Ala)
c.5375A>C (p.Asp1792Ala)
c.5276A>C (p.Asp1759Ala)
c.5210A>C (p.Asp1737Ala)
c.5192A>C (p.Asp1731Ala)
c.4844A>C (p.Asp1615Ala)
c.4724A>C (p.Asp1575Ala)
c.4935A>C (p.Gly1645=)
n.4966A>C
c.5351A>C (p.Asp1784Ala)
c.5288A>C (p.Asp1763Ala)
c.5279A>C (p.Asp1760Ala)
c.4889A>C (p.Asp1630Ala)
c.4748A>C (p.Asp1583Ala)
c.5180A>C (p.Asp1727Ala)
8g.41668550T=CA1779071375ANK1c.5234A= (p.Asp1745=)
c.5330A= (p.Asp1777=)
c.5147A= (p.Asp1716=)
c.5111A= (p.Asp1704=)
c.1125A=
c.683A=
c.2589A=
n.2505A=
c.4625A= (p.Asp1542=)
c.5375A= (p.Asp1792=)
c.5276A= (p.Asp1759=)
c.5210A= (p.Asp1737=)
c.5192A= (p.Asp1731=)
c.4844A= (p.Asp1615=)
c.4724A= (p.Asp1575=)
c.4935A= (p.Gly1645=)
n.4966A=
c.5351A= (p.Asp1784=)
c.5288A= (p.Asp1763=)
c.5279A= (p.Asp1760=)
c.4889A= (p.Asp1630=)
c.4748A= (p.Asp1583=)
c.5180A= (p.Asp1727=)
8g.41668551C>ACA371052249ANK1c.5233G>T (p.Asp1745Tyr)
c.5329G>T (p.Asp1777Tyr)
c.5146G>T (p.Asp1716Tyr)
c.5110G>T (p.Asp1704Tyr)
c.1124G>T
c.682G>T
c.2588G>T
n.2504G>T
c.4624G>T (p.Asp1542Tyr)
c.5374G>T (p.Asp1792Tyr)
c.5275G>T (p.Asp1759Tyr)
c.5209G>T (p.Asp1737Tyr)
c.5191G>T (p.Asp1731Tyr)
c.4843G>T (p.Asp1615Tyr)
c.4723G>T (p.Asp1575Tyr)
c.4934G>T (p.Gly1645Val)
n.4965G>T
c.5350G>T (p.Asp1784Tyr)
c.5287G>T (p.Asp1763Tyr)
c.5278G>T (p.Asp1760Tyr)
c.4888G>T (p.Asp1630Tyr)
c.4747G>T (p.Asp1583Tyr)
c.5179G>T (p.Asp1727Tyr)
 COSMIC COSMIC
8g.41668551C=CA1779071377ANK1c.5233G= (p.Asp1745=)
c.5329G= (p.Asp1777=)
c.5146G= (p.Asp1716=)
c.5110G= (p.Asp1704=)
c.1124G=
c.682G=
c.2588G=
n.2504G=
c.4624G= (p.Asp1542=)
c.5374G= (p.Asp1792=)
c.5275G= (p.Asp1759=)
c.5209G= (p.Asp1737=)
c.5191G= (p.Asp1731=)
c.4843G= (p.Asp1615=)
c.4723G= (p.Asp1575=)
c.4934G= (p.Gly1645=)
n.4965G=
c.5350G= (p.Asp1784=)
c.5287G= (p.Asp1763=)
c.5278G= (p.Asp1760=)
c.4888G= (p.Asp1630=)
c.4747G= (p.Asp1583=)
c.5179G= (p.Asp1727=)
8g.41668551C>GCA371052248ANK1c.5233G>C (p.Asp1745His)
c.5329G>C (p.Asp1777His)
c.5146G>C (p.Asp1716His)
c.5110G>C (p.Asp1704His)
c.1124G>C
c.682G>C
c.2588G>C
n.2504G>C
c.4624G>C (p.Asp1542His)
c.5374G>C (p.Asp1792His)
c.5275G>C (p.Asp1759His)
c.5209G>C (p.Asp1737His)
c.5191G>C (p.Asp1731His)
c.4843G>C (p.Asp1615His)
c.4723G>C (p.Asp1575His)
c.4934G>C (p.Gly1645Ala)
n.4965G>C
c.5350G>C (p.Asp1784His)
c.5287G>C (p.Asp1763His)
c.5278G>C (p.Asp1760His)
c.4888G>C (p.Asp1630His)
c.4747G>C (p.Asp1583His)
c.5179G>C (p.Asp1727His)
8g.41668551C>TCA4727363ANK1c.5233G>A (p.Asp1745Asn)
c.5329G>A (p.Asp1777Asn)
c.5146G>A (p.Asp1716Asn)
c.5110G>A (p.Asp1704Asn)
c.1124G>A
c.682G>A
c.2588G>A
n.2504G>A
c.4624G>A (p.Asp1542Asn)
c.5374G>A (p.Asp1792Asn)
c.5275G>A (p.Asp1759Asn)
c.5209G>A (p.Asp1737Asn)
c.5191G>A (p.Asp1731Asn)
c.4843G>A (p.Asp1615Asn)
c.4723G>A (p.Asp1575Asn)
c.4934G>A (p.Gly1645Glu)
n.4965G>A
c.5350G>A (p.Asp1784Asn)
c.5287G>A (p.Asp1763Asn)
c.5278G>A (p.Asp1760Asn)
c.4888G>A (p.Asp1630Asn)
c.4747G>A (p.Asp1583Asn)
c.5179G>A (p.Asp1727Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41668552C>ACA371052250ANK1c.5232G>T (p.Trp1744Cys)
c.5328G>T (p.Trp1776Cys)
c.5145G>T (p.Trp1715Cys)
c.5109G>T (p.Trp1703Cys)
c.1123G>T
c.681G>T
c.2587G>T
n.2503G>T
c.4623G>T (p.Trp1541Cys)
c.5373G>T (p.Trp1791Cys)
c.5274G>T (p.Trp1758Cys)
c.5208G>T (p.Trp1736Cys)
c.5190G>T (p.Trp1730Cys)
c.4842G>T (p.Trp1614Cys)
c.4722G>T (p.Trp1574Cys)
c.4933G>T (p.Gly1645Ter)
n.4964G>T
c.5349G>T (p.Trp1783Cys)
c.5286G>T (p.Trp1762Cys)
c.5277G>T (p.Trp1759Cys)
c.4887G>T (p.Trp1629Cys)
c.4746G>T (p.Trp1582Cys)
c.5178G>T (p.Trp1726Cys)
8g.41668552C>GCA371052251ANK1c.5232G>C (p.Trp1744Cys)
c.5328G>C (p.Trp1776Cys)
c.5145G>C (p.Trp1715Cys)
c.5109G>C (p.Trp1703Cys)
c.1123G>C
c.681G>C
c.2587G>C
n.2503G>C
c.4623G>C (p.Trp1541Cys)
c.5373G>C (p.Trp1791Cys)
c.5274G>C (p.Trp1758Cys)
c.5208G>C (p.Trp1736Cys)
c.5190G>C (p.Trp1730Cys)
c.4842G>C (p.Trp1614Cys)
c.4722G>C (p.Trp1574Cys)
c.4933G>C (p.Gly1645Arg)
n.4964G>C
c.5349G>C (p.Trp1783Cys)
c.5286G>C (p.Trp1762Cys)
c.5277G>C (p.Trp1759Cys)
c.4887G>C (p.Trp1629Cys)
c.4746G>C (p.Trp1582Cys)
c.5178G>C (p.Trp1726Cys)
8g.41668552C>TCA371052252ANK1c.5232G>A (p.Trp1744Ter)
c.5328G>A (p.Trp1776Ter)
c.5145G>A (p.Trp1715Ter)
c.5109G>A (p.Trp1703Ter)
c.1123G>A
c.681G>A
c.2587G>A
n.2503G>A
c.4623G>A (p.Trp1541Ter)
c.5373G>A (p.Trp1791Ter)
c.5274G>A (p.Trp1758Ter)
c.5208G>A (p.Trp1736Ter)
c.5190G>A (p.Trp1730Ter)
c.4842G>A (p.Trp1614Ter)
c.4722G>A (p.Trp1574Ter)
c.4933G>A (p.Gly1645Arg)
n.4964G>A
c.5349G>A (p.Trp1783Ter)
c.5286G>A (p.Trp1762Ter)
c.5277G>A (p.Trp1759Ter)
c.4887G>A (p.Trp1629Ter)
c.4746G>A (p.Trp1582Ter)
c.5178G>A (p.Trp1726Ter)
8g.41668553C>ACA371052253ANK1c.5231G>T (p.Trp1744Leu)
c.5327G>T (p.Trp1776Leu)
c.5144G>T (p.Trp1715Leu)
c.5108G>T (p.Trp1703Leu)
c.1122G>T
c.680G>T
c.2586G>T
n.2502G>T
c.4622G>T (p.Trp1541Leu)
c.5372G>T (p.Trp1791Leu)
c.5273G>T (p.Trp1758Leu)
c.5207G>T (p.Trp1736Leu)
c.5189G>T (p.Trp1730Leu)
c.4841G>T (p.Trp1614Leu)
c.4721G>T (p.Trp1574Leu)
c.4932G>T (p.Leu1644=)
n.4963G>T
c.5348G>T (p.Trp1783Leu)
c.5285G>T (p.Trp1762Leu)
c.5276G>T (p.Trp1759Leu)
c.4886G>T (p.Trp1629Leu)
c.4745G>T (p.Trp1582Leu)
c.5177G>T (p.Trp1726Leu)
8g.41668553C>GCA371052254ANK1c.5231G>C (p.Trp1744Ser)
c.5327G>C (p.Trp1776Ser)
c.5144G>C (p.Trp1715Ser)
c.5108G>C (p.Trp1703Ser)
c.1122G>C
c.680G>C
c.2586G>C
n.2502G>C
c.4622G>C (p.Trp1541Ser)
c.5372G>C (p.Trp1791Ser)
c.5273G>C (p.Trp1758Ser)
c.5207G>C (p.Trp1736Ser)
c.5189G>C (p.Trp1730Ser)
c.4841G>C (p.Trp1614Ser)
c.4721G>C (p.Trp1574Ser)
c.4932G>C (p.Leu1644=)
n.4963G>C
c.5348G>C (p.Trp1783Ser)
c.5285G>C (p.Trp1762Ser)
c.5276G>C (p.Trp1759Ser)
c.4886G>C (p.Trp1629Ser)
c.4745G>C (p.Trp1582Ser)
c.5177G>C (p.Trp1726Ser)
8g.41668553C>TCA371052255ANK1c.5231G>A (p.Trp1744Ter)
c.5327G>A (p.Trp1776Ter)
c.5144G>A (p.Trp1715Ter)
c.5108G>A (p.Trp1703Ter)
c.1122G>A
c.680G>A
c.2586G>A
n.2502G>A
c.4622G>A (p.Trp1541Ter)
c.5372G>A (p.Trp1791Ter)
c.5273G>A (p.Trp1758Ter)
c.5207G>A (p.Trp1736Ter)
c.5189G>A (p.Trp1730Ter)
c.4841G>A (p.Trp1614Ter)
c.4721G>A (p.Trp1574Ter)
c.4932G>A (p.Leu1644=)
n.4963G>A
c.5348G>A (p.Trp1783Ter)
c.5285G>A (p.Trp1762Ter)
c.5276G>A (p.Trp1759Ter)
c.4886G>A (p.Trp1629Ter)
c.4745G>A (p.Trp1582Ter)
c.5177G>A (p.Trp1726Ter)
 ClinVar dbSNP gnomAD v4
8g.41668554A>CCA371052256ANK1c.5230T>G (p.Trp1744Gly)
c.5326T>G (p.Trp1776Gly)
c.5143T>G (p.Trp1715Gly)
c.5107T>G (p.Trp1703Gly)
c.1121T>G
c.679T>G
c.2585T>G
n.2501T>G
c.4621T>G (p.Trp1541Gly)
c.5371T>G (p.Trp1791Gly)
c.5272T>G (p.Trp1758Gly)
c.5206T>G (p.Trp1736Gly)
c.5188T>G (p.Trp1730Gly)
c.4840T>G (p.Trp1614Gly)
c.4720T>G (p.Trp1574Gly)
c.4931T>G (p.Leu1644Arg)
n.4962T>G
c.5347T>G (p.Trp1783Gly)
c.5284T>G (p.Trp1762Gly)
c.5275T>G (p.Trp1759Gly)
c.4885T>G (p.Trp1629Gly)
c.4744T>G (p.Trp1582Gly)
c.5176T>G (p.Trp1726Gly)
8g.41668554A>GCA371052257ANK1c.5230T>C (p.Trp1744Arg)
c.5326T>C (p.Trp1776Arg)
c.5143T>C (p.Trp1715Arg)
c.5107T>C (p.Trp1703Arg)
c.1121T>C
c.679T>C
c.2585T>C
n.2501T>C
c.4621T>C (p.Trp1541Arg)
c.5371T>C (p.Trp1791Arg)
c.5272T>C (p.Trp1758Arg)
c.5206T>C (p.Trp1736Arg)
c.5188T>C (p.Trp1730Arg)
c.4840T>C (p.Trp1614Arg)
c.4720T>C (p.Trp1574Arg)
c.4931T>C (p.Leu1644Pro)
n.4962T>C
c.5347T>C (p.Trp1783Arg)
c.5284T>C (p.Trp1762Arg)
c.5275T>C (p.Trp1759Arg)
c.4885T>C (p.Trp1629Arg)
c.4744T>C (p.Trp1582Arg)
c.5176T>C (p.Trp1726Arg)
8g.41668554A>TCA371052258ANK1c.5230T>A (p.Trp1744Arg)
c.5326T>A (p.Trp1776Arg)
c.5143T>A (p.Trp1715Arg)
c.5107T>A (p.Trp1703Arg)
c.1121T>A
c.679T>A
c.2585T>A
n.2501T>A
c.4621T>A (p.Trp1541Arg)
c.5371T>A (p.Trp1791Arg)
c.5272T>A (p.Trp1758Arg)
c.5206T>A (p.Trp1736Arg)
c.5188T>A (p.Trp1730Arg)
c.4840T>A (p.Trp1614Arg)
c.4720T>A (p.Trp1574Arg)
c.4931T>A (p.Leu1644Gln)
n.4962T>A
c.5347T>A (p.Trp1783Arg)
c.5284T>A (p.Trp1762Arg)
c.5275T>A (p.Trp1759Arg)
c.4885T>A (p.Trp1629Arg)
c.4744T>A (p.Trp1582Arg)
c.5176T>A (p.Trp1726Arg)
8g.41668555G>ACA460540362ANK1c.5229C>T (p.Asp1743=)
c.5325C>T (p.Asp1775=)
c.5142C>T (p.Asp1714=)
c.5106C>T (p.Asp1702=)
c.1120C>T
c.678C>T
c.2584C>T
n.2500C>T
c.4620C>T (p.Asp1540=)
c.5370C>T (p.Asp1790=)
c.5271C>T (p.Asp1757=)
c.5205C>T (p.Asp1735=)
c.5187C>T (p.Asp1729=)
c.4839C>T (p.Asp1613=)
c.4719C>T (p.Asp1573=)
c.4930C>T (p.Leu1644=)
n.4961C>T
c.5346C>T (p.Asp1782=)
c.5283C>T (p.Asp1761=)
c.5274C>T (p.Asp1758=)
c.4884C>T (p.Asp1628=)
c.4743C>T (p.Asp1581=)
c.5175C>T (p.Asp1725=)
 gnomAD v4
8g.41668555G>CCA371052259ANK1c.5229C>G (p.Asp1743Glu)
c.5325C>G (p.Asp1775Glu)
c.5142C>G (p.Asp1714Glu)
c.5106C>G (p.Asp1702Glu)
c.1120C>G
c.678C>G
c.2584C>G
n.2500C>G
c.4620C>G (p.Asp1540Glu)
c.5370C>G (p.Asp1790Glu)
c.5271C>G (p.Asp1757Glu)
c.5205C>G (p.Asp1735Glu)
c.5187C>G (p.Asp1729Glu)
c.4839C>G (p.Asp1613Glu)
c.4719C>G (p.Asp1573Glu)
c.4930C>G (p.Leu1644Val)
n.4961C>G
c.5346C>G (p.Asp1782Glu)
c.5283C>G (p.Asp1761Glu)
c.5274C>G (p.Asp1758Glu)
c.4884C>G (p.Asp1628Glu)
c.4743C>G (p.Asp1581Glu)
c.5175C>G (p.Asp1725Glu)
8g.41668555G>TCA371052260ANK1c.5229C>A (p.Asp1743Glu)
c.5325C>A (p.Asp1775Glu)
c.5142C>A (p.Asp1714Glu)
c.5106C>A (p.Asp1702Glu)
c.1120C>A
c.678C>A
c.2584C>A
n.2500C>A
c.4620C>A (p.Asp1540Glu)
c.5370C>A (p.Asp1790Glu)
c.5271C>A (p.Asp1757Glu)
c.5205C>A (p.Asp1735Glu)
c.5187C>A (p.Asp1729Glu)
c.4839C>A (p.Asp1613Glu)
c.4719C>A (p.Asp1573Glu)
c.4930C>A (p.Leu1644Met)
n.4961C>A
c.5346C>A (p.Asp1782Glu)
c.5283C>A (p.Asp1761Glu)
c.5274C>A (p.Asp1758Glu)
c.4884C>A (p.Asp1628Glu)
c.4743C>A (p.Asp1581Glu)
c.5175C>A (p.Asp1725Glu)
8g.41668556T>ACA371052261ANK1c.5228A>T (p.Asp1743Val)
c.5324A>T (p.Asp1775Val)
c.5141A>T (p.Asp1714Val)
c.5105A>T (p.Asp1702Val)
c.1119A>T
c.677A>T
c.2583A>T
n.2499A>T
c.4619A>T (p.Asp1540Val)
c.5369A>T (p.Asp1790Val)
c.5270A>T (p.Asp1757Val)
c.5204A>T (p.Asp1735Val)
c.5186A>T (p.Asp1729Val)
c.4838A>T (p.Asp1613Val)
c.4718A>T (p.Asp1573Val)
c.4929A>T (p.Gly1643=)
n.4960A>T
c.5345A>T (p.Asp1782Val)
c.5282A>T (p.Asp1761Val)
c.5273A>T (p.Asp1758Val)
c.4883A>T (p.Asp1628Val)
c.4742A>T (p.Asp1581Val)
c.5174A>T (p.Asp1725Val)
8g.41668556T>CCA371052262ANK1c.5228A>G (p.Asp1743Gly)
c.5324A>G (p.Asp1775Gly)
c.5141A>G (p.Asp1714Gly)
c.5105A>G (p.Asp1702Gly)
c.1119A>G
c.677A>G
c.2583A>G
n.2499A>G
c.4619A>G (p.Asp1540Gly)
c.5369A>G (p.Asp1790Gly)
c.5270A>G (p.Asp1757Gly)
c.5204A>G (p.Asp1735Gly)
c.5186A>G (p.Asp1729Gly)
c.4838A>G (p.Asp1613Gly)
c.4718A>G (p.Asp1573Gly)
c.4929A>G (p.Gly1643=)
n.4960A>G
c.5345A>G (p.Asp1782Gly)
c.5282A>G (p.Asp1761Gly)
c.5273A>G (p.Asp1758Gly)
c.4883A>G (p.Asp1628Gly)
c.4742A>G (p.Asp1581Gly)
c.5174A>G (p.Asp1725Gly)
8g.41668556T>GCA371052263ANK1c.5228A>C (p.Asp1743Ala)
c.5324A>C (p.Asp1775Ala)
c.5141A>C (p.Asp1714Ala)
c.5105A>C (p.Asp1702Ala)
c.1119A>C
c.677A>C
c.2583A>C
n.2499A>C
c.4619A>C (p.Asp1540Ala)
c.5369A>C (p.Asp1790Ala)
c.5270A>C (p.Asp1757Ala)
c.5204A>C (p.Asp1735Ala)
c.5186A>C (p.Asp1729Ala)
c.4838A>C (p.Asp1613Ala)
c.4718A>C (p.Asp1573Ala)
c.4929A>C (p.Gly1643=)
n.4960A>C
c.5345A>C (p.Asp1782Ala)
c.5282A>C (p.Asp1761Ala)
c.5273A>C (p.Asp1758Ala)
c.4883A>C (p.Asp1628Ala)
c.4742A>C (p.Asp1581Ala)
c.5174A>C (p.Asp1725Ala)
8g.41668557C>ACA371052265ANK1c.5227G>T (p.Asp1743Tyr)
c.5323G>T (p.Asp1775Tyr)
c.5140G>T (p.Asp1714Tyr)
c.5104G>T (p.Asp1702Tyr)
c.1118G>T
c.676G>T
c.2582G>T
n.2498G>T
c.4618G>T (p.Asp1540Tyr)
c.5368G>T (p.Asp1790Tyr)
c.5269G>T (p.Asp1757Tyr)
c.5203G>T (p.Asp1735Tyr)
c.5185G>T (p.Asp1729Tyr)
c.4837G>T (p.Asp1613Tyr)
c.4717G>T (p.Asp1573Tyr)
c.4928G>T (p.Gly1643Val)
n.4959G>T
c.5344G>T (p.Asp1782Tyr)
c.5281G>T (p.Asp1761Tyr)
c.5272G>T (p.Asp1758Tyr)
c.4882G>T (p.Asp1628Tyr)
c.4741G>T (p.Asp1581Tyr)
c.5173G>T (p.Asp1725Tyr)
8g.41668557C>GCA371052266ANK1c.5227G>C (p.Asp1743His)
c.5323G>C (p.Asp1775His)
c.5140G>C (p.Asp1714His)
c.5104G>C (p.Asp1702His)
c.1118G>C
c.676G>C
c.2582G>C
n.2498G>C
c.4618G>C (p.Asp1540His)
c.5368G>C (p.Asp1790His)
c.5269G>C (p.Asp1757His)
c.5203G>C (p.Asp1735His)
c.5185G>C (p.Asp1729His)
c.4837G>C (p.Asp1613His)
c.4717G>C (p.Asp1573His)
c.4928G>C (p.Gly1643Ala)
n.4959G>C
c.5344G>C (p.Asp1782His)
c.5281G>C (p.Asp1761His)
c.5272G>C (p.Asp1758His)
c.4882G>C (p.Asp1628His)
c.4741G>C (p.Asp1581His)
c.5173G>C (p.Asp1725His)
8g.41668557C>TCA371052264ANK1c.5227G>A (p.Asp1743Asn)
c.5323G>A (p.Asp1775Asn)
c.5140G>A (p.Asp1714Asn)
c.5104G>A (p.Asp1702Asn)
c.1118G>A
c.676G>A
c.2582G>A
n.2498G>A
c.4618G>A (p.Asp1540Asn)
c.5368G>A (p.Asp1790Asn)
c.5269G>A (p.Asp1757Asn)
c.5203G>A (p.Asp1735Asn)
c.5185G>A (p.Asp1729Asn)
c.4837G>A (p.Asp1613Asn)
c.4717G>A (p.Asp1573Asn)
c.4928G>A (p.Gly1643Glu)
n.4959G>A
c.5344G>A (p.Asp1782Asn)
c.5281G>A (p.Asp1761Asn)
c.5272G>A (p.Asp1758Asn)
c.4882G>A (p.Asp1628Asn)
c.4741G>A (p.Asp1581Asn)
c.5173G>A (p.Asp1725Asn)
 gnomAD v4 COSMIC COSMIC
8g.41668558C>ACA371052267ANK1c.5226G>T (p.Gln1742His)
c.5322G>T (p.Gln1774His)
c.5139G>T (p.Gln1713His)
c.5103G>T (p.Gln1701His)
c.1117G>T
c.675G>T
c.2581G>T
n.2497G>T
c.4617G>T (p.Gln1539His)
c.5367G>T (p.Gln1789His)
c.5268G>T (p.Gln1756His)
c.5202G>T (p.Gln1734His)
c.5184G>T (p.Gln1728His)
c.4836G>T (p.Gln1612His)
c.4716G>T (p.Gln1572His)
c.4927G>T (p.Gly1643Ter)
n.4958G>T
c.5343G>T (p.Gln1781His)
c.5280G>T (p.Gln1760His)
c.5271G>T (p.Gln1757His)
c.4881G>T (p.Gln1627His)
c.4740G>T (p.Gln1580His)
c.5172G>T (p.Gln1724His)
8g.41668558C>GCA371052268ANK1c.5226G>C (p.Gln1742His)
c.5322G>C (p.Gln1774His)
c.5139G>C (p.Gln1713His)
c.5103G>C (p.Gln1701His)
c.1117G>C
c.675G>C
c.2581G>C
n.2497G>C
c.4617G>C (p.Gln1539His)
c.5367G>C (p.Gln1789His)
c.5268G>C (p.Gln1756His)
c.5202G>C (p.Gln1734His)
c.5184G>C (p.Gln1728His)
c.4836G>C (p.Gln1612His)
c.4716G>C (p.Gln1572His)
c.4927G>C (p.Gly1643Arg)
n.4958G>C
c.5343G>C (p.Gln1781His)
c.5280G>C (p.Gln1760His)
c.5271G>C (p.Gln1757His)
c.4881G>C (p.Gln1627His)
c.4740G>C (p.Gln1580His)
c.5172G>C (p.Gln1724His)
8g.41668558C>TCA460540374ANK1c.5226G>A (p.Gln1742=)
c.5322G>A (p.Gln1774=)
c.5139G>A (p.Gln1713=)
c.5103G>A (p.Gln1701=)
c.1117G>A
c.675G>A
c.2581G>A
n.2497G>A
c.4617G>A (p.Gln1539=)
c.5367G>A (p.Gln1789=)
c.5268G>A (p.Gln1756=)
c.5202G>A (p.Gln1734=)
c.5184G>A (p.Gln1728=)
c.4836G>A (p.Gln1612=)
c.4716G>A (p.Gln1572=)
c.4927G>A (p.Gly1643Arg)
n.4958G>A
c.5343G>A (p.Gln1781=)
c.5280G>A (p.Gln1760=)
c.5271G>A (p.Gln1757=)
c.4881G>A (p.Gln1627=)
c.4740G>A (p.Gln1580=)
c.5172G>A (p.Gln1724=)
 gnomAD v4
8g.41668559T>ACA371052269ANK1c.5225A>T (p.Gln1742Leu)
c.5321A>T (p.Gln1774Leu)
c.5138A>T (p.Gln1713Leu)
c.5102A>T (p.Gln1701Leu)
c.1116A>T
c.674A>T
c.2580A>T
n.2496A>T
c.4616A>T (p.Gln1539Leu)
c.5366A>T (p.Gln1789Leu)
c.5267A>T (p.Gln1756Leu)
c.5201A>T (p.Gln1734Leu)
c.5183A>T (p.Gln1728Leu)
c.4835A>T (p.Gln1612Leu)
c.4715A>T (p.Gln1572Leu)
c.4926A>T (p.Ala1642=)
n.4957A>T
c.5342A>T (p.Gln1781Leu)
c.5279A>T (p.Gln1760Leu)
c.5270A>T (p.Gln1757Leu)
c.4880A>T (p.Gln1627Leu)
c.4739A>T (p.Gln1580Leu)
c.5171A>T (p.Gln1724Leu)
8g.41668559T>CCA371052270ANK1c.5225A>G (p.Gln1742Arg)
c.5321A>G (p.Gln1774Arg)
c.5138A>G (p.Gln1713Arg)
c.5102A>G (p.Gln1701Arg)
c.1116A>G
c.674A>G
c.2580A>G
n.2496A>G
c.4616A>G (p.Gln1539Arg)
c.5366A>G (p.Gln1789Arg)
c.5267A>G (p.Gln1756Arg)
c.5201A>G (p.Gln1734Arg)
c.5183A>G (p.Gln1728Arg)
c.4835A>G (p.Gln1612Arg)
c.4715A>G (p.Gln1572Arg)
c.4926A>G (p.Ala1642=)
n.4957A>G
c.5342A>G (p.Gln1781Arg)
c.5279A>G (p.Gln1760Arg)
c.5270A>G (p.Gln1757Arg)
c.4880A>G (p.Gln1627Arg)
c.4739A>G (p.Gln1580Arg)
c.5171A>G (p.Gln1724Arg)
8g.41668559T>GCA371052271ANK1c.5225A>C (p.Gln1742Pro)
c.5321A>C (p.Gln1774Pro)
c.5138A>C (p.Gln1713Pro)
c.5102A>C (p.Gln1701Pro)
c.1116A>C
c.674A>C
c.2580A>C
n.2496A>C
c.4616A>C (p.Gln1539Pro)
c.5366A>C (p.Gln1789Pro)
c.5267A>C (p.Gln1756Pro)
c.5201A>C (p.Gln1734Pro)
c.5183A>C (p.Gln1728Pro)
c.4835A>C (p.Gln1612Pro)
c.4715A>C (p.Gln1572Pro)
c.4926A>C (p.Ala1642=)
n.4957A>C
c.5342A>C (p.Gln1781Pro)
c.5279A>C (p.Gln1760Pro)
c.5270A>C (p.Gln1757Pro)
c.4880A>C (p.Gln1627Pro)
c.4739A>C (p.Gln1580Pro)
c.5171A>C (p.Gln1724Pro)
8g.41668559_41668560delinsTGCA1779071379ANK1c.5224_5225delinsCA (p.Gln1742=)
c.5320_5321delinsCA (p.Gln1774=)
c.5137_5138delinsCA (p.Gln1713=)
c.5101_5102delinsCA (p.Gln1701=)
c.1115_1116delinsCA
c.673_674delinsCA
c.2579_2580delinsCA
n.2495_2496delinsCA
c.4615_4616delinsCA (p.Gln1539=)
c.5365_5366delinsCA (p.Gln1789=)
c.5266_5267delinsCA (p.Gln1756=)
c.5200_5201delinsCA (p.Gln1734=)
c.5182_5183delinsCA (p.Gln1728=)
c.4834_4835delinsCA (p.Gln1612=)
c.4714_4715delinsCA (p.Gln1572=)
c.4925_4926delinsCA (p.Ala1642=)
n.4956_4957delinsCA
c.5341_5342delinsCA (p.Gln1781=)
c.5278_5279delinsCA (p.Gln1760=)
c.5269_5270delinsCA (p.Gln1757=)
c.4879_4880delinsCA (p.Gln1627=)
c.4738_4739delinsCA (p.Gln1580=)
c.5170_5171delinsCA (p.Gln1724=)
8g.41668560delCA1779071381ANK1c.5224del (p.Gln1742ArgfsTer?)
c.5320del (p.Gln1774ArgfsTer?)
c.5137del (p.Gln1713ArgfsTer?)
c.5101del (p.Gln1701ArgfsTer?)
c.1115del
c.673del
c.2579del
n.2495del
c.4615del (p.Gln1539ArgfsTer?)
c.5365del (p.Gln1789ArgfsTer?)
c.5266del (p.Gln1756ArgfsTer?)
c.5200del (p.Gln1734ArgfsTer?)
c.5182del (p.Gln1728ArgfsTer?)
c.4834del (p.Gln1612ArgfsTer?)
c.4714del (p.Gln1572ArgfsTer?)
c.4925del (p.Ala1642GlufsTer?)
n.4956del
c.5341del (p.Gln1781ArgfsTer?)
c.5278del (p.Gln1760ArgfsTer?)
c.5269del (p.Gln1757ArgfsTer?)
c.4879del (p.Gln1627ArgfsTer?)
c.4738del (p.Gln1580ArgfsTer?)
c.5170del (p.Gln1724ArgfsTer?)
 dbSNP
8g.41668560G>ACA371052272ANK1c.5224C>T (p.Gln1742Ter)
c.5320C>T (p.Gln1774Ter)
c.5137C>T (p.Gln1713Ter)
c.5101C>T (p.Gln1701Ter)
c.1115C>T
c.673C>T
c.2579C>T
n.2495C>T
c.4615C>T (p.Gln1539Ter)
c.5365C>T (p.Gln1789Ter)
c.5266C>T (p.Gln1756Ter)
c.5200C>T (p.Gln1734Ter)
c.5182C>T (p.Gln1728Ter)
c.4834C>T (p.Gln1612Ter)
c.4714C>T (p.Gln1572Ter)
c.4925C>T (p.Ala1642Val)
n.4956C>T
c.5341C>T (p.Gln1781Ter)
c.5278C>T (p.Gln1760Ter)
c.5269C>T (p.Gln1757Ter)
c.4879C>T (p.Gln1627Ter)
c.4738C>T (p.Gln1580Ter)
c.5170C>T (p.Gln1724Ter)
8g.41668560G>CCA371052273ANK1c.5224C>G (p.Gln1742Glu)
c.5320C>G (p.Gln1774Glu)
c.5137C>G (p.Gln1713Glu)
c.5101C>G (p.Gln1701Glu)
c.1115C>G
c.673C>G
c.2579C>G
n.2495C>G
c.4615C>G (p.Gln1539Glu)
c.5365C>G (p.Gln1789Glu)
c.5266C>G (p.Gln1756Glu)
c.5200C>G (p.Gln1734Glu)
c.5182C>G (p.Gln1728Glu)
c.4834C>G (p.Gln1612Glu)
c.4714C>G (p.Gln1572Glu)
c.4925C>G (p.Ala1642Gly)
n.4956C>G
c.5341C>G (p.Gln1781Glu)
c.5278C>G (p.Gln1760Glu)
c.5269C>G (p.Gln1757Glu)
c.4879C>G (p.Gln1627Glu)
c.4738C>G (p.Gln1580Glu)
c.5170C>G (p.Gln1724Glu)
8g.41668560G>TCA371052274ANK1c.5224C>A (p.Gln1742Lys)
c.5320C>A (p.Gln1774Lys)
c.5137C>A (p.Gln1713Lys)
c.5101C>A (p.Gln1701Lys)
c.1115C>A
c.673C>A
c.2579C>A
n.2495C>A
c.4615C>A (p.Gln1539Lys)
c.5365C>A (p.Gln1789Lys)
c.5266C>A (p.Gln1756Lys)
c.5200C>A (p.Gln1734Lys)
c.5182C>A (p.Gln1728Lys)
c.4834C>A (p.Gln1612Lys)
c.4714C>A (p.Gln1572Lys)
c.4925C>A (p.Ala1642Glu)
n.4956C>A
c.5341C>A (p.Gln1781Lys)
c.5278C>A (p.Gln1760Lys)
c.5269C>A (p.Gln1757Lys)
c.4879C>A (p.Gln1627Lys)
c.4738C>A (p.Gln1580Lys)
c.5170C>A (p.Gln1724Lys)
8g.41668561C>ACA460540383ANK1c.5223G>T (p.Leu1741=)
c.5319G>T (p.Leu1773=)
c.5136G>T (p.Leu1712=)
c.5100G>T (p.Leu1700=)
c.1114G>T
c.672G>T
c.2578G>T
n.2494G>T
c.4614G>T (p.Leu1538=)
c.5364G>T (p.Leu1788=)
c.5265G>T (p.Leu1755=)
c.5199G>T (p.Leu1733=)
c.5181G>T (p.Leu1727=)
c.4833G>T (p.Leu1611=)
c.4713G>T (p.Leu1571=)
c.4924G>T (p.Ala1642Ser)
n.4955G>T
c.5340G>T (p.Leu1780=)
c.5277G>T (p.Leu1759=)
c.5268G>T (p.Leu1756=)
c.4878G>T (p.Leu1626=)
c.4737G>T (p.Leu1579=)
c.5169G>T (p.Leu1723=)
8g.41668561C>GCA460540384ANK1c.5223G>C (p.Leu1741=)
c.5319G>C (p.Leu1773=)
c.5136G>C (p.Leu1712=)
c.5100G>C (p.Leu1700=)
c.1114G>C
c.672G>C
c.2578G>C
n.2494G>C
c.4614G>C (p.Leu1538=)
c.5364G>C (p.Leu1788=)
c.5265G>C (p.Leu1755=)
c.5199G>C (p.Leu1733=)
c.5181G>C (p.Leu1727=)
c.4833G>C (p.Leu1611=)
c.4713G>C (p.Leu1571=)
c.4924G>C (p.Ala1642Pro)
n.4955G>C
c.5340G>C (p.Leu1780=)
c.5277G>C (p.Leu1759=)
c.5268G>C (p.Leu1756=)
c.4878G>C (p.Leu1626=)
c.4737G>C (p.Leu1579=)
c.5169G>C (p.Leu1723=)
8g.41668561C>TCA460540386ANK1c.5223G>A (p.Leu1741=)
c.5319G>A (p.Leu1773=)
c.5136G>A (p.Leu1712=)
c.5100G>A (p.Leu1700=)
c.1114G>A
c.672G>A
c.2578G>A
n.2494G>A
c.4614G>A (p.Leu1538=)
c.5364G>A (p.Leu1788=)
c.5265G>A (p.Leu1755=)
c.5199G>A (p.Leu1733=)
c.5181G>A (p.Leu1727=)
c.4833G>A (p.Leu1611=)
c.4713G>A (p.Leu1571=)
c.4924G>A (p.Ala1642Thr)
n.4955G>A
c.5340G>A (p.Leu1780=)
c.5277G>A (p.Leu1759=)
c.5268G>A (p.Leu1756=)
c.4878G>A (p.Leu1626=)
c.4737G>A (p.Leu1579=)
c.5169G>A (p.Leu1723=)
8g.41668562A=CA1779071383ANK1c.5222T= (p.Leu1741=)
c.5318T= (p.Leu1773=)
c.5135T= (p.Leu1712=)
c.5099T= (p.Leu1700=)
c.1113T=
c.671T=
c.2577T=
n.2493T=
c.4613T= (p.Leu1538=)
c.5363T= (p.Leu1788=)
c.5264T= (p.Leu1755=)
c.5198T= (p.Leu1733=)
c.5180T= (p.Leu1727=)
c.4832T= (p.Leu1611=)
c.4712T= (p.Leu1571=)
c.4923T= (p.Thr1641=)
n.4954T=
c.5339T= (p.Leu1780=)
c.5276T= (p.Leu1759=)
c.5267T= (p.Leu1756=)
c.4877T= (p.Leu1626=)
c.4736T= (p.Leu1579=)
c.5168T= (p.Leu1723=)
8g.41668562A>CCA371052275ANK1c.5222T>G (p.Leu1741Arg)
c.5318T>G (p.Leu1773Arg)
c.5135T>G (p.Leu1712Arg)
c.5099T>G (p.Leu1700Arg)
c.1113T>G
c.671T>G
c.2577T>G
n.2493T>G
c.4613T>G (p.Leu1538Arg)
c.5363T>G (p.Leu1788Arg)
c.5264T>G (p.Leu1755Arg)
c.5198T>G (p.Leu1733Arg)
c.5180T>G (p.Leu1727Arg)
c.4832T>G (p.Leu1611Arg)
c.4712T>G (p.Leu1571Arg)
c.4923T>G (p.Thr1641=)
n.4954T>G
c.5339T>G (p.Leu1780Arg)
c.5276T>G (p.Leu1759Arg)
c.5267T>G (p.Leu1756Arg)
c.4877T>G (p.Leu1626Arg)
c.4736T>G (p.Leu1579Arg)
c.5168T>G (p.Leu1723Arg)
8g.41668562A>GCA371052276ANK1c.5222T>C (p.Leu1741Pro)
c.5318T>C (p.Leu1773Pro)
c.5135T>C (p.Leu1712Pro)
c.5099T>C (p.Leu1700Pro)
c.1113T>C
c.671T>C
c.2577T>C
n.2493T>C
c.4613T>C (p.Leu1538Pro)
c.5363T>C (p.Leu1788Pro)
c.5264T>C (p.Leu1755Pro)
c.5198T>C (p.Leu1733Pro)
c.5180T>C (p.Leu1727Pro)
c.4832T>C (p.Leu1611Pro)
c.4712T>C (p.Leu1571Pro)
c.4923T>C (p.Thr1641=)
n.4954T>C
c.5339T>C (p.Leu1780Pro)
c.5276T>C (p.Leu1759Pro)
c.5267T>C (p.Leu1756Pro)
c.4877T>C (p.Leu1626Pro)
c.4736T>C (p.Leu1579Pro)
c.5168T>C (p.Leu1723Pro)
 dbSNP gnomAD v2 gnomAD v4
8g.41668562A>TCA371052277ANK1c.5222T>A (p.Leu1741Gln)
c.5318T>A (p.Leu1773Gln)
c.5135T>A (p.Leu1712Gln)
c.5099T>A (p.Leu1700Gln)
c.1113T>A
c.671T>A
c.2577T>A
n.2493T>A
c.4613T>A (p.Leu1538Gln)
c.5363T>A (p.Leu1788Gln)
c.5264T>A (p.Leu1755Gln)
c.5198T>A (p.Leu1733Gln)
c.5180T>A (p.Leu1727Gln)
c.4832T>A (p.Leu1611Gln)
c.4712T>A (p.Leu1571Gln)
c.4923T>A (p.Thr1641=)
n.4954T>A
c.5339T>A (p.Leu1780Gln)
c.5276T>A (p.Leu1759Gln)
c.5267T>A (p.Leu1756Gln)
c.4877T>A (p.Leu1626Gln)
c.4736T>A (p.Leu1579Gln)
c.5168T>A (p.Leu1723Gln)
8g.41668563G>ACA460540394ANK1c.5221C>T (p.Leu1741=)
c.5317C>T (p.Leu1773=)
c.5134C>T (p.Leu1712=)
c.5098C>T (p.Leu1700=)
c.1112C>T
c.670C>T
c.2576C>T
n.2492C>T
c.4612C>T (p.Leu1538=)
c.5362C>T (p.Leu1788=)
c.5263C>T (p.Leu1755=)
c.5197C>T (p.Leu1733=)
c.5179C>T (p.Leu1727=)
c.4831C>T (p.Leu1611=)
c.4711C>T (p.Leu1571=)
c.4922C>T (p.Thr1641Ile)
n.4953C>T
c.5338C>T (p.Leu1780=)
c.5275C>T (p.Leu1759=)
c.5266C>T (p.Leu1756=)
c.4876C>T (p.Leu1626=)
c.4735C>T (p.Leu1579=)
c.5167C>T (p.Leu1723=)
 dbSNP gnomAD v2 gnomAD v4
8g.41668563G>CCA371052278ANK1c.5221C>G (p.Leu1741Val)
c.5317C>G (p.Leu1773Val)
c.5134C>G (p.Leu1712Val)
c.5098C>G (p.Leu1700Val)
c.1112C>G
c.670C>G
c.2576C>G
n.2492C>G
c.4612C>G (p.Leu1538Val)
c.5362C>G (p.Leu1788Val)
c.5263C>G (p.Leu1755Val)
c.5197C>G (p.Leu1733Val)
c.5179C>G (p.Leu1727Val)
c.4831C>G (p.Leu1611Val)
c.4711C>G (p.Leu1571Val)
c.4922C>G (p.Thr1641Ser)
n.4953C>G
c.5338C>G (p.Leu1780Val)
c.5275C>G (p.Leu1759Val)
c.5266C>G (p.Leu1756Val)
c.4876C>G (p.Leu1626Val)
c.4735C>G (p.Leu1579Val)
c.5167C>G (p.Leu1723Val)
8g.41668563G=CA1779071385ANK1c.5221C= (p.Leu1741=)
c.5317C= (p.Leu1773=)
c.5134C= (p.Leu1712=)
c.5098C= (p.Leu1700=)
c.1112C=
c.670C=
c.2576C=
n.2492C=
c.4612C= (p.Leu1538=)
c.5362C= (p.Leu1788=)
c.5263C= (p.Leu1755=)
c.5197C= (p.Leu1733=)
c.5179C= (p.Leu1727=)
c.4831C= (p.Leu1611=)
c.4711C= (p.Leu1571=)
c.4922C= (p.Thr1641=)
n.4953C=
c.5338C= (p.Leu1780=)
c.5275C= (p.Leu1759=)
c.5266C= (p.Leu1756=)
c.4876C= (p.Leu1626=)
c.4735C= (p.Leu1579=)
c.5167C= (p.Leu1723=)
8g.41668563G>TCA371052279ANK1c.5221C>A (p.Leu1741Met)
c.5317C>A (p.Leu1773Met)
c.5134C>A (p.Leu1712Met)
c.5098C>A (p.Leu1700Met)
c.1112C>A
c.670C>A
c.2576C>A
n.2492C>A
c.4612C>A (p.Leu1538Met)
c.5362C>A (p.Leu1788Met)
c.5263C>A (p.Leu1755Met)
c.5197C>A (p.Leu1733Met)
c.5179C>A (p.Leu1727Met)
c.4831C>A (p.Leu1611Met)
c.4711C>A (p.Leu1571Met)
c.4922C>A (p.Thr1641Asn)
n.4953C>A
c.5338C>A (p.Leu1780Met)
c.5275C>A (p.Leu1759Met)
c.5266C>A (p.Leu1756Met)
c.4876C>A (p.Leu1626Met)
c.4735C>A (p.Leu1579Met)
c.5167C>A (p.Leu1723Met)
8g.41668564T>ACA371052281ANK1c.5220A>T (p.Arg1740Ser)
c.5316A>T (p.Arg1772Ser)
c.5133A>T (p.Arg1711Ser)
c.5097A>T (p.Arg1699Ser)
c.1111A>T
c.669A>T
c.2575A>T
n.2491A>T
c.4611A>T (p.Arg1537Ser)
c.5361A>T (p.Arg1787Ser)
c.5262A>T (p.Arg1754Ser)
c.5196A>T (p.Arg1732Ser)
c.5178A>T (p.Arg1726Ser)
c.4830A>T (p.Arg1610Ser)
c.4710A>T (p.Arg1570Ser)
c.4921A>T (p.Thr1641Ser)
n.4952A>T
c.5337A>T (p.Arg1779Ser)
c.5274A>T (p.Arg1758Ser)
c.5265A>T (p.Arg1755Ser)
c.4875A>T (p.Arg1625Ser)
c.4734A>T (p.Arg1578Ser)
c.5166A>T (p.Arg1722Ser)
8g.41668564T>CCA460540396ANK1c.5220A>G (p.Arg1740=)
c.5316A>G (p.Arg1772=)
c.5133A>G (p.Arg1711=)
c.5097A>G (p.Arg1699=)
c.1111A>G
c.669A>G
c.2575A>G
n.2491A>G
c.4611A>G (p.Arg1537=)
c.5361A>G (p.Arg1787=)
c.5262A>G (p.Arg1754=)
c.5196A>G (p.Arg1732=)
c.5178A>G (p.Arg1726=)
c.4830A>G (p.Arg1610=)
c.4710A>G (p.Arg1570=)
c.4921A>G (p.Thr1641Ala)
n.4952A>G
c.5337A>G (p.Arg1779=)
c.5274A>G (p.Arg1758=)
c.5265A>G (p.Arg1755=)
c.4875A>G (p.Arg1625=)
c.4734A>G (p.Arg1578=)
c.5166A>G (p.Arg1722=)
8g.41668564T>GCA371052280ANK1c.5220A>C (p.Arg1740Ser)
c.5316A>C (p.Arg1772Ser)
c.5133A>C (p.Arg1711Ser)
c.5097A>C (p.Arg1699Ser)
c.1111A>C
c.669A>C
c.2575A>C
n.2491A>C
c.4611A>C (p.Arg1537Ser)
c.5361A>C (p.Arg1787Ser)
c.5262A>C (p.Arg1754Ser)
c.5196A>C (p.Arg1732Ser)
c.5178A>C (p.Arg1726Ser)
c.4830A>C (p.Arg1610Ser)
c.4710A>C (p.Arg1570Ser)
c.4921A>C (p.Thr1641Pro)
n.4952A>C
c.5337A>C (p.Arg1779Ser)
c.5274A>C (p.Arg1758Ser)
c.5265A>C (p.Arg1755Ser)
c.4875A>C (p.Arg1625Ser)
c.4734A>C (p.Arg1578Ser)
c.5166A>C (p.Arg1722Ser)
8g.41668565C>ACA371052282ANK1c.5220-1G>T (n.5220-1G>T)
c.5316-1G>T (n.5316-1G>T)
c.5133-1G>T (n.5133-1G>T)
c.5097-1G>T (n.5097-1G>T)
c.1111-1G>T
c.669-1G>T
c.2575-1G>T
n.2491-1G>T
c.4611-1G>T (n.4611-1G>T)
c.5361-1G>T (n.5361-1G>T)
c.5262-1G>T (n.5262-1G>T)
c.5196-1G>T (n.5196-1G>T)
c.5178-1G>T (n.5178-1G>T)
c.4830-1G>T (n.4830-1G>T)
c.4710-1G>T (n.4710-1G>T)
c.4921-1G>T (n.4921-1G>T)
n.4952-1G>T
c.5337-1G>T (n.5337-1G>T)
c.5274-1G>T (n.5274-1G>T)
c.5265-1G>T (n.5265-1G>T)
c.4875-1G>T (n.4875-1G>T)
c.4734-1G>T (n.4734-1G>T)
c.5166-1G>T (n.5166-1G>T)
8g.41668565C>GCA371052283ANK1c.5220-1G>C (n.5220-1G>C)
c.5316-1G>C (n.5316-1G>C)
c.5133-1G>C (n.5133-1G>C)
c.5097-1G>C (n.5097-1G>C)
c.1111-1G>C
c.669-1G>C
c.2575-1G>C
n.2491-1G>C
c.4611-1G>C (n.4611-1G>C)
c.5361-1G>C (n.5361-1G>C)
c.5262-1G>C (n.5262-1G>C)
c.5196-1G>C (n.5196-1G>C)
c.5178-1G>C (n.5178-1G>C)
c.4830-1G>C (n.4830-1G>C)
c.4710-1G>C (n.4710-1G>C)
c.4921-1G>C (n.4921-1G>C)
n.4952-1G>C
c.5337-1G>C (n.5337-1G>C)
c.5274-1G>C (n.5274-1G>C)
c.5265-1G>C (n.5265-1G>C)
c.4875-1G>C (n.4875-1G>C)
c.4734-1G>C (n.4734-1G>C)
c.5166-1G>C (n.5166-1G>C)
8g.41668565C>TCA371052284ANK1c.5220-1G>A (n.5220-1G>A)
c.5316-1G>A (n.5316-1G>A)
c.5133-1G>A (n.5133-1G>A)
c.5097-1G>A (n.5097-1G>A)
c.1111-1G>A
c.669-1G>A
c.2575-1G>A
n.2491-1G>A
c.4611-1G>A (n.4611-1G>A)
c.5361-1G>A (n.5361-1G>A)
c.5262-1G>A (n.5262-1G>A)
c.5196-1G>A (n.5196-1G>A)
c.5178-1G>A (n.5178-1G>A)
c.4830-1G>A (n.4830-1G>A)
c.4710-1G>A (n.4710-1G>A)
c.4921-1G>A (n.4921-1G>A)
n.4952-1G>A
c.5337-1G>A (n.5337-1G>A)
c.5274-1G>A (n.5274-1G>A)
c.5265-1G>A (n.5265-1G>A)
c.4875-1G>A (n.4875-1G>A)
c.4734-1G>A (n.4734-1G>A)
c.5166-1G>A (n.5166-1G>A)
8g.41668566T>ACA371052285ANK1c.5220-2A>T (n.5220-2A>T)
c.5316-2A>T (n.5316-2A>T)
c.5133-2A>T (n.5133-2A>T)
c.5097-2A>T (n.5097-2A>T)
c.1111-2A>T
c.669-2A>T
c.2575-2A>T
n.2491-2A>T
c.4611-2A>T (n.4611-2A>T)
c.5361-2A>T (n.5361-2A>T)
c.5262-2A>T (n.5262-2A>T)
c.5196-2A>T (n.5196-2A>T)
c.5178-2A>T (n.5178-2A>T)
c.4830-2A>T (n.4830-2A>T)
c.4710-2A>T (n.4710-2A>T)
c.4921-2A>T (n.4921-2A>T)
n.4952-2A>T
c.5337-2A>T (n.5337-2A>T)
c.5274-2A>T (n.5274-2A>T)
c.5265-2A>T (n.5265-2A>T)
c.4875-2A>T (n.4875-2A>T)
c.4734-2A>T (n.4734-2A>T)
c.5166-2A>T (n.5166-2A>T)
8g.41668566T>CCA371052286ANK1c.5220-2A>G (n.5220-2A>G)
c.5316-2A>G (n.5316-2A>G)
c.5133-2A>G (n.5133-2A>G)
c.5097-2A>G (n.5097-2A>G)
c.1111-2A>G
c.669-2A>G
c.2575-2A>G
n.2491-2A>G
c.4611-2A>G (n.4611-2A>G)
c.5361-2A>G (n.5361-2A>G)
c.5262-2A>G (n.5262-2A>G)
c.5196-2A>G (n.5196-2A>G)
c.5178-2A>G (n.5178-2A>G)
c.4830-2A>G (n.4830-2A>G)
c.4710-2A>G (n.4710-2A>G)
c.4921-2A>G (n.4921-2A>G)
n.4952-2A>G
c.5337-2A>G (n.5337-2A>G)
c.5274-2A>G (n.5274-2A>G)
c.5265-2A>G (n.5265-2A>G)
c.4875-2A>G (n.4875-2A>G)
c.4734-2A>G (n.4734-2A>G)
c.5166-2A>G (n.5166-2A>G)
8g.41668566T>GCA371052287ANK1c.5220-2A>C (n.5220-2A>C)
c.5316-2A>C (n.5316-2A>C)
c.5133-2A>C (n.5133-2A>C)
c.5097-2A>C (n.5097-2A>C)
c.1111-2A>C
c.669-2A>C
c.2575-2A>C
n.2491-2A>C
c.4611-2A>C (n.4611-2A>C)
c.5361-2A>C (n.5361-2A>C)
c.5262-2A>C (n.5262-2A>C)
c.5196-2A>C (n.5196-2A>C)
c.5178-2A>C (n.5178-2A>C)
c.4830-2A>C (n.4830-2A>C)
c.4710-2A>C (n.4710-2A>C)
c.4921-2A>C (n.4921-2A>C)
n.4952-2A>C
c.5337-2A>C (n.5337-2A>C)
c.5274-2A>C (n.5274-2A>C)
c.5265-2A>C (n.5265-2A>C)
c.4875-2A>C (n.4875-2A>C)
c.4734-2A>C (n.4734-2A>C)
c.5166-2A>C (n.5166-2A>C)
8g.41668568G>ACA2687065196ANK1c.5220-4C>T (n.5220-4C>T)
c.5316-4C>T (n.5316-4C>T)
c.5133-4C>T (n.5133-4C>T)
c.5097-4C>T (n.5097-4C>T)
c.1111-4C>T
c.669-4C>T
c.2575-4C>T
n.2491-4C>T
c.4611-4C>T (n.4611-4C>T)
c.5361-4C>T (n.5361-4C>T)
c.5262-4C>T (n.5262-4C>T)
c.5196-4C>T (n.5196-4C>T)
c.5178-4C>T (n.5178-4C>T)
c.4830-4C>T (n.4830-4C>T)
c.4710-4C>T (n.4710-4C>T)
c.4921-4C>T (n.4921-4C>T)
n.4952-4C>T
c.5337-4C>T (n.5337-4C>T)
c.5274-4C>T (n.5274-4C>T)
c.5265-4C>T (n.5265-4C>T)
c.4875-4C>T (n.4875-4C>T)
c.4734-4C>T (n.4734-4C>T)
c.5166-4C>T (n.5166-4C>T)
 gnomAD v4
8g.41668568G>CCA2687065197ANK1c.5220-4C>G (n.5220-4C>G)
c.5316-4C>G (n.5316-4C>G)
c.5133-4C>G (n.5133-4C>G)
c.5097-4C>G (n.5097-4C>G)
c.1111-4C>G
c.669-4C>G
c.2575-4C>G
n.2491-4C>G
c.4611-4C>G (n.4611-4C>G)
c.5361-4C>G (n.5361-4C>G)
c.5262-4C>G (n.5262-4C>G)
c.5196-4C>G (n.5196-4C>G)
c.5178-4C>G (n.5178-4C>G)
c.4830-4C>G (n.4830-4C>G)
c.4710-4C>G (n.4710-4C>G)
c.4921-4C>G (n.4921-4C>G)
n.4952-4C>G
c.5337-4C>G (n.5337-4C>G)
c.5274-4C>G (n.5274-4C>G)
c.5265-4C>G (n.5265-4C>G)
c.4875-4C>G (n.4875-4C>G)
c.4734-4C>G (n.4734-4C>G)
c.5166-4C>G (n.5166-4C>G)
 gnomAD v4
8g.41668568G=CA1779071386ANK1c.5220-4C= (n.5220-4C=)
c.5316-4C= (n.5316-4C=)
c.5133-4C= (n.5133-4C=)
c.5097-4C= (n.5097-4C=)
c.1111-4C=
c.669-4C=
c.2575-4C=
n.2491-4C=
c.4611-4C= (n.4611-4C=)
c.5361-4C= (n.5361-4C=)
c.5262-4C= (n.5262-4C=)
c.5196-4C= (n.5196-4C=)
c.5178-4C= (n.5178-4C=)
c.4830-4C= (n.4830-4C=)
c.4710-4C= (n.4710-4C=)
c.4921-4C= (n.4921-4C=)
n.4952-4C=
c.5337-4C= (n.5337-4C=)
c.5274-4C= (n.5274-4C=)
c.5265-4C= (n.5265-4C=)
c.4875-4C= (n.4875-4C=)
c.4734-4C= (n.4734-4C=)
c.5166-4C= (n.5166-4C=)
8g.41668568G>TCA4727364ANK1c.5220-4C>A (n.5220-4C>A)
c.5316-4C>A (n.5316-4C>A)
c.5133-4C>A (n.5133-4C>A)
c.5097-4C>A (n.5097-4C>A)
c.1111-4C>A
c.669-4C>A
c.2575-4C>A
n.2491-4C>A
c.4611-4C>A (n.4611-4C>A)
c.5361-4C>A (n.5361-4C>A)
c.5262-4C>A (n.5262-4C>A)
c.5196-4C>A (n.5196-4C>A)
c.5178-4C>A (n.5178-4C>A)
c.4830-4C>A (n.4830-4C>A)
c.4710-4C>A (n.4710-4C>A)
c.4921-4C>A (n.4921-4C>A)
n.4952-4C>A
c.5337-4C>A (n.5337-4C>A)
c.5274-4C>A (n.5274-4C>A)
c.5265-4C>A (n.5265-4C>A)
c.4875-4C>A (n.4875-4C>A)
c.4734-4C>A (n.4734-4C>A)
c.5166-4C>A (n.5166-4C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.41668570G=CA1779071389ANK1c.5220-6C= (n.5220-6C=)
c.5316-6C= (n.5316-6C=)
c.5133-6C= (n.5133-6C=)
c.5097-6C= (n.5097-6C=)
c.1111-6C=
c.669-6C=
c.2575-6C=
n.2491-6C=
c.4611-6C= (n.4611-6C=)
c.5361-6C= (n.5361-6C=)
c.5262-6C= (n.5262-6C=)
c.5196-6C= (n.5196-6C=)
c.5178-6C= (n.5178-6C=)
c.4830-6C= (n.4830-6C=)
c.4710-6C= (n.4710-6C=)
c.4921-6C= (n.4921-6C=)
n.4952-6C=
c.5337-6C= (n.5337-6C=)
c.5274-6C= (n.5274-6C=)
c.5265-6C= (n.5265-6C=)
c.4875-6C= (n.4875-6C=)
c.4734-6C= (n.4734-6C=)
c.5166-6C= (n.5166-6C=)
8g.41668570G>TCA1779071388ANK1c.5220-6C>A (n.5220-6C>A)
c.5316-6C>A (n.5316-6C>A)
c.5133-6C>A (n.5133-6C>A)
c.5097-6C>A (n.5097-6C>A)
c.1111-6C>A
c.669-6C>A
c.2575-6C>A
n.2491-6C>A
c.4611-6C>A (n.4611-6C>A)
c.5361-6C>A (n.5361-6C>A)
c.5262-6C>A (n.5262-6C>A)
c.5196-6C>A (n.5196-6C>A)
c.5178-6C>A (n.5178-6C>A)
c.4830-6C>A (n.4830-6C>A)
c.4710-6C>A (n.4710-6C>A)
c.4921-6C>A (n.4921-6C>A)
n.4952-6C>A
c.5337-6C>A (n.5337-6C>A)
c.5274-6C>A (n.5274-6C>A)
c.5265-6C>A (n.5265-6C>A)
c.4875-6C>A (n.4875-6C>A)
c.4734-6C>A (n.4734-6C>A)
c.5166-6C>A (n.5166-6C>A)
 dbSNP gnomAD v4
8g.41668571T>CCA1779071391ANK1c.5220-7A>G (n.5220-7A>G)
c.5316-7A>G (n.5316-7A>G)
c.5133-7A>G (n.5133-7A>G)
c.5097-7A>G (n.5097-7A>G)
c.1111-7A>G
c.669-7A>G
c.2575-7A>G
n.2491-7A>G
c.4611-7A>G (n.4611-7A>G)
c.5361-7A>G (n.5361-7A>G)
c.5262-7A>G (n.5262-7A>G)
c.5196-7A>G (n.5196-7A>G)
c.5178-7A>G (n.5178-7A>G)
c.4830-7A>G (n.4830-7A>G)
c.4710-7A>G (n.4710-7A>G)
c.4921-7A>G (n.4921-7A>G)
n.4952-7A>G
c.5337-7A>G (n.5337-7A>G)
c.5274-7A>G (n.5274-7A>G)
c.5265-7A>G (n.5265-7A>G)
c.4875-7A>G (n.4875-7A>G)
c.4734-7A>G (n.4734-7A>G)
c.5166-7A>G (n.5166-7A>G)
 dbSNP gnomAD v4
8g.41668571T=CA1779071390ANK1c.5220-7A= (n.5220-7A=)
c.5316-7A= (n.5316-7A=)
c.5133-7A= (n.5133-7A=)
c.5097-7A= (n.5097-7A=)
c.1111-7A=
c.669-7A=
c.2575-7A=
n.2491-7A=
c.4611-7A= (n.4611-7A=)
c.5361-7A= (n.5361-7A=)
c.5262-7A= (n.5262-7A=)
c.5196-7A= (n.5196-7A=)
c.5178-7A= (n.5178-7A=)
c.4830-7A= (n.4830-7A=)
c.4710-7A= (n.4710-7A=)
c.4921-7A= (n.4921-7A=)
n.4952-7A=
c.5337-7A= (n.5337-7A=)
c.5274-7A= (n.5274-7A=)
c.5265-7A= (n.5265-7A=)
c.4875-7A= (n.4875-7A=)
c.4734-7A= (n.4734-7A=)
c.5166-7A= (n.5166-7A=)
8g.41668572C>TCA2579152507ANK1c.5220-8G>A (n.5220-8G>A)
c.5316-8G>A (n.5316-8G>A)
c.5133-8G>A (n.5133-8G>A)
c.5097-8G>A (n.5097-8G>A)
c.1111-8G>A
c.669-8G>A
c.2575-8G>A
n.2491-8G>A
c.4611-8G>A (n.4611-8G>A)
c.5361-8G>A (n.5361-8G>A)
c.5262-8G>A (n.5262-8G>A)
c.5196-8G>A (n.5196-8G>A)
c.5178-8G>A (n.5178-8G>A)
c.4830-8G>A (n.4830-8G>A)
c.4710-8G>A (n.4710-8G>A)
c.4921-8G>A (n.4921-8G>A)
n.4952-8G>A
c.5337-8G>A (n.5337-8G>A)
c.5274-8G>A (n.5274-8G>A)
c.5265-8G>A (n.5265-8G>A)
c.4875-8G>A (n.4875-8G>A)
c.4734-8G>A (n.4734-8G>A)
c.5166-8G>A (n.5166-8G>A)
 gnomAD v4
8g.41668573delCA2579152506ANK1c.5220-8del (n.5220-8del)
c.5316-8del (n.5316-8del)
c.5133-8del (n.5133-8del)
c.5097-8del (n.5097-8del)
c.1111-8del
c.669-8del
c.2575-8del
n.2491-8del
c.4611-8del (n.4611-8del)
c.5361-8del (n.5361-8del)
c.5262-8del (n.5262-8del)
c.5196-8del (n.5196-8del)
c.5178-8del (n.5178-8del)
c.4830-8del (n.4830-8del)
c.4710-8del (n.4710-8del)
c.4921-8del (n.4921-8del)
n.4952-8del
c.5337-8del (n.5337-8del)
c.5274-8del (n.5274-8del)
c.5265-8del (n.5265-8del)
c.4875-8del (n.4875-8del)
c.4734-8del (n.4734-8del)
c.5166-8del (n.5166-8del)
8g.41668573C=CA1779071392ANK1c.5220-9G= (n.5220-9G=)
c.5316-9G= (n.5316-9G=)
c.5133-9G= (n.5133-9G=)
c.5097-9G= (n.5097-9G=)
c.1111-9G=
c.669-9G=
c.2575-9G=
n.2491-9G=
c.4611-9G= (n.4611-9G=)
c.5361-9G= (n.5361-9G=)
c.5262-9G= (n.5262-9G=)
c.5196-9G= (n.5196-9G=)
c.5178-9G= (n.5178-9G=)
c.4830-9G= (n.4830-9G=)
c.4710-9G= (n.4710-9G=)
c.4921-9G= (n.4921-9G=)
n.4952-9G=
c.5337-9G= (n.5337-9G=)
c.5274-9G= (n.5274-9G=)
c.5265-9G= (n.5265-9G=)
c.4875-9G= (n.4875-9G=)
c.4734-9G= (n.4734-9G=)
c.5166-9G= (n.5166-9G=)
8g.41668573C>TCA1779071393ANK1c.5220-9G>A (n.5220-9G>A)
c.5316-9G>A (n.5316-9G>A)
c.5133-9G>A (n.5133-9G>A)
c.5097-9G>A (n.5097-9G>A)
c.1111-9G>A
c.669-9G>A
c.2575-9G>A
n.2491-9G>A
c.4611-9G>A (n.4611-9G>A)
c.5361-9G>A (n.5361-9G>A)
c.5262-9G>A (n.5262-9G>A)
c.5196-9G>A (n.5196-9G>A)
c.5178-9G>A (n.5178-9G>A)
c.4830-9G>A (n.4830-9G>A)
c.4710-9G>A (n.4710-9G>A)
c.4921-9G>A (n.4921-9G>A)
n.4952-9G>A
c.5337-9G>A (n.5337-9G>A)
c.5274-9G>A (n.5274-9G>A)
c.5265-9G>A (n.5265-9G>A)
c.4875-9G>A (n.4875-9G>A)
c.4734-9G>A (n.4734-9G>A)
c.5166-9G>A (n.5166-9G>A)
 ClinVar dbSNP
8g.41668574A=CA1779071395ANK1c.5220-10T= (n.5220-10T=)
c.5316-10T= (n.5316-10T=)
c.5133-10T= (n.5133-10T=)
c.5097-10T= (n.5097-10T=)
c.1111-10T=
c.669-10T=
c.2575-10T=
n.2491-10T=
c.4611-10T= (n.4611-10T=)
c.5361-10T= (n.5361-10T=)
c.5262-10T= (n.5262-10T=)
c.5196-10T= (n.5196-10T=)
c.5178-10T= (n.5178-10T=)
c.4830-10T= (n.4830-10T=)
c.4710-10T= (n.4710-10T=)
c.4921-10T= (n.4921-10T=)
n.4952-10T=
c.5337-10T= (n.5337-10T=)
c.5274-10T= (n.5274-10T=)
c.5265-10T= (n.5265-10T=)
c.4875-10T= (n.4875-10T=)
c.4734-10T= (n.4734-10T=)
c.5166-10T= (n.5166-10T=)
8g.41668574A>CCA175914404ANK1c.5220-10T>G (n.5220-10T>G)
c.5316-10T>G (n.5316-10T>G)
c.5133-10T>G (n.5133-10T>G)
c.5097-10T>G (n.5097-10T>G)
c.1111-10T>G
c.669-10T>G
c.2575-10T>G
n.2491-10T>G
c.4611-10T>G (n.4611-10T>G)
c.5361-10T>G (n.5361-10T>G)
c.5262-10T>G (n.5262-10T>G)
c.5196-10T>G (n.5196-10T>G)
c.5178-10T>G (n.5178-10T>G)
c.4830-10T>G (n.4830-10T>G)
c.4710-10T>G (n.4710-10T>G)
c.4921-10T>G (n.4921-10T>G)
n.4952-10T>G
c.5337-10T>G (n.5337-10T>G)
c.5274-10T>G (n.5274-10T>G)
c.5265-10T>G (n.5265-10T>G)
c.4875-10T>G (n.4875-10T>G)
c.4734-10T>G (n.4734-10T>G)
c.5166-10T>G (n.5166-10T>G)
 dbSNP gnomAD v4
8g.41668574A>GCA1113150859ANK1c.5220-10T>C (n.5220-10T>C)
c.5316-10T>C (n.5316-10T>C)
c.5133-10T>C (n.5133-10T>C)
c.5097-10T>C (n.5097-10T>C)
c.1111-10T>C
c.669-10T>C
c.2575-10T>C
n.2491-10T>C
c.4611-10T>C (n.4611-10T>C)
c.5361-10T>C (n.5361-10T>C)
c.5262-10T>C (n.5262-10T>C)
c.5196-10T>C (n.5196-10T>C)
c.5178-10T>C (n.5178-10T>C)
c.4830-10T>C (n.4830-10T>C)
c.4710-10T>C (n.4710-10T>C)
c.4921-10T>C (n.4921-10T>C)
n.4952-10T>C
c.5337-10T>C (n.5337-10T>C)
c.5274-10T>C (n.5274-10T>C)
c.5265-10T>C (n.5265-10T>C)
c.4875-10T>C (n.4875-10T>C)
c.4734-10T>C (n.4734-10T>C)
c.5166-10T>C (n.5166-10T>C)
 dbSNP gnomAD v3 gnomAD v4
8g.41668575G>ACA2779863639ANK1c.5220-11C>T (n.5220-11C>T)
c.5316-11C>T (n.5316-11C>T)
c.5133-11C>T (n.5133-11C>T)
c.5097-11C>T (n.5097-11C>T)
c.1111-11C>T
c.669-11C>T
c.2575-11C>T
n.2491-11C>T
c.4611-11C>T (n.4611-11C>T)
c.5361-11C>T (n.5361-11C>T)
c.5262-11C>T (n.5262-11C>T)
c.5196-11C>T (n.5196-11C>T)
c.5178-11C>T (n.5178-11C>T)
c.4830-11C>T (n.4830-11C>T)
c.4710-11C>T (n.4710-11C>T)
c.4921-11C>T (n.4921-11C>T)
n.4952-11C>T
c.5337-11C>T (n.5337-11C>T)
c.5274-11C>T (n.5274-11C>T)
c.5265-11C>T (n.5265-11C>T)
c.4875-11C>T (n.4875-11C>T)
c.4734-11C>T (n.4734-11C>T)
c.5166-11C>T (n.5166-11C>T)
8g.41668575G>CCA2687065198ANK1c.5220-11C>G (n.5220-11C>G)
c.5316-11C>G (n.5316-11C>G)
c.5133-11C>G (n.5133-11C>G)
c.5097-11C>G (n.5097-11C>G)
c.1111-11C>G
c.669-11C>G
c.2575-11C>G
n.2491-11C>G
c.4611-11C>G (n.4611-11C>G)
c.5361-11C>G (n.5361-11C>G)
c.5262-11C>G (n.5262-11C>G)
c.5196-11C>G (n.5196-11C>G)
c.5178-11C>G (n.5178-11C>G)
c.4830-11C>G (n.4830-11C>G)
c.4710-11C>G (n.4710-11C>G)
c.4921-11C>G (n.4921-11C>G)
n.4952-11C>G
c.5337-11C>G (n.5337-11C>G)
c.5274-11C>G (n.5274-11C>G)
c.5265-11C>G (n.5265-11C>G)
c.4875-11C>G (n.4875-11C>G)
c.4734-11C>G (n.4734-11C>G)
c.5166-11C>G (n.5166-11C>G)
 gnomAD v4
8g.41668576A=CA1779071396ANK1c.5220-12T= (n.5220-12T=)
c.5316-12T= (n.5316-12T=)
c.5133-12T= (n.5133-12T=)
c.5097-12T= (n.5097-12T=)
c.1111-12T=
c.669-12T=
c.2575-12T=
n.2491-12T=
c.4611-12T= (n.4611-12T=)
c.5361-12T= (n.5361-12T=)
c.5262-12T= (n.5262-12T=)
c.5196-12T= (n.5196-12T=)
c.5178-12T= (n.5178-12T=)
c.4830-12T= (n.4830-12T=)
c.4710-12T= (n.4710-12T=)
c.4921-12T= (n.4921-12T=)
n.4952-12T=
c.5337-12T= (n.5337-12T=)
c.5274-12T= (n.5274-12T=)
c.5265-12T= (n.5265-12T=)
c.4875-12T= (n.4875-12T=)
c.4734-12T= (n.4734-12T=)
c.5166-12T= (n.5166-12T=)
8g.41668576A>GCA851791149ANK1c.5220-12T>C (n.5220-12T>C)
c.5316-12T>C (n.5316-12T>C)
c.5133-12T>C (n.5133-12T>C)
c.5097-12T>C (n.5097-12T>C)
c.1111-12T>C
c.669-12T>C
c.2575-12T>C
n.2491-12T>C
c.4611-12T>C (n.4611-12T>C)
c.5361-12T>C (n.5361-12T>C)
c.5262-12T>C (n.5262-12T>C)
c.5196-12T>C (n.5196-12T>C)
c.5178-12T>C (n.5178-12T>C)
c.4830-12T>C (n.4830-12T>C)
c.4710-12T>C (n.4710-12T>C)
c.4921-12T>C (n.4921-12T>C)
n.4952-12T>C
c.5337-12T>C (n.5337-12T>C)
c.5274-12T>C (n.5274-12T>C)
c.5265-12T>C (n.5265-12T>C)
c.4875-12T>C (n.4875-12T>C)
c.4734-12T>C (n.4734-12T>C)
c.5166-12T>C (n.5166-12T>C)
 dbSNP gnomAD v3 gnomAD v4
8g.41668579A=CA1779071398ANK1c.5220-15T= (n.5220-15T=)
c.5316-15T= (n.5316-15T=)
c.5133-15T= (n.5133-15T=)
c.5097-15T= (n.5097-15T=)
c.1111-15T=
c.669-15T=
c.2575-15T=
n.2491-15T=
c.4611-15T= (n.4611-15T=)
c.5361-15T= (n.5361-15T=)
c.5262-15T= (n.5262-15T=)
c.5196-15T= (n.5196-15T=)
c.5178-15T= (n.5178-15T=)
c.4830-15T= (n.4830-15T=)
c.4710-15T= (n.4710-15T=)
c.4921-15T= (n.4921-15T=)
n.4952-15T=
c.5337-15T= (n.5337-15T=)
c.5274-15T= (n.5274-15T=)
c.5265-15T= (n.5265-15T=)
c.4875-15T= (n.4875-15T=)
c.4734-15T= (n.4734-15T=)
c.5166-15T= (n.5166-15T=)
8g.41668579A>CCA4727365ANK1c.5220-15T>G (n.5220-15T>G)
c.5316-15T>G (n.5316-15T>G)
c.5133-15T>G (n.5133-15T>G)
c.5097-15T>G (n.5097-15T>G)
c.1111-15T>G
c.669-15T>G
c.2575-15T>G
n.2491-15T>G
c.4611-15T>G (n.4611-15T>G)
c.5361-15T>G (n.5361-15T>G)
c.5262-15T>G (n.5262-15T>G)
c.5196-15T>G (n.5196-15T>G)
c.5178-15T>G (n.5178-15T>G)
c.4830-15T>G (n.4830-15T>G)
c.4710-15T>G (n.4710-15T>G)
c.4921-15T>G (n.4921-15T>G)
n.4952-15T>G
c.5337-15T>G (n.5337-15T>G)
c.5274-15T>G (n.5274-15T>G)
c.5265-15T>G (n.5265-15T>G)
c.4875-15T>G (n.4875-15T>G)
c.4734-15T>G (n.4734-15T>G)
c.5166-15T>G (n.5166-15T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41668581G>TCA2579152508ANK1c.5220-17C>A (n.5220-17C>A)
c.5316-17C>A (n.5316-17C>A)
c.5133-17C>A (n.5133-17C>A)
c.5097-17C>A (n.5097-17C>A)
c.1111-17C>A
c.669-17C>A
c.2575-17C>A
n.2491-17C>A
c.4611-17C>A (n.4611-17C>A)
c.5361-17C>A (n.5361-17C>A)
c.5262-17C>A (n.5262-17C>A)
c.5196-17C>A (n.5196-17C>A)
c.5178-17C>A (n.5178-17C>A)
c.4830-17C>A (n.4830-17C>A)
c.4710-17C>A (n.4710-17C>A)
c.4921-17C>A (n.4921-17C>A)
n.4952-17C>A
c.5337-17C>A (n.5337-17C>A)
c.5274-17C>A (n.5274-17C>A)
c.5265-17C>A (n.5265-17C>A)
c.4875-17C>A (n.4875-17C>A)
c.4734-17C>A (n.4734-17C>A)
c.5166-17C>A (n.5166-17C>A)
8g.41668582C>TCA2687065199ANK1c.5220-18G>A (n.5220-18G>A)
c.5316-18G>A (n.5316-18G>A)
c.5133-18G>A (n.5133-18G>A)
c.5097-18G>A (n.5097-18G>A)
c.1111-18G>A
c.669-18G>A
c.2575-18G>A
n.2491-18G>A
c.4611-18G>A (n.4611-18G>A)
c.5361-18G>A (n.5361-18G>A)
c.5262-18G>A (n.5262-18G>A)
c.5196-18G>A (n.5196-18G>A)
c.5178-18G>A (n.5178-18G>A)
c.4830-18G>A (n.4830-18G>A)
c.4710-18G>A (n.4710-18G>A)
c.4921-18G>A (n.4921-18G>A)
n.4952-18G>A
c.5337-18G>A (n.5337-18G>A)
c.5274-18G>A (n.5274-18G>A)
c.5265-18G>A (n.5265-18G>A)
c.4875-18G>A (n.4875-18G>A)
c.4734-18G>A (n.4734-18G>A)
c.5166-18G>A (n.5166-18G>A)
 gnomAD v4
8g.41668584G>CCA4727366ANK1c.5220-20C>G (n.5220-20C>G)
c.5316-20C>G (n.5316-20C>G)
c.5133-20C>G (n.5133-20C>G)
c.5097-20C>G (n.5097-20C>G)
c.1111-20C>G
c.669-20C>G
c.2575-20C>G
n.2491-20C>G
c.4611-20C>G (n.4611-20C>G)
c.5361-20C>G (n.5361-20C>G)
c.5262-20C>G (n.5262-20C>G)
c.5196-20C>G (n.5196-20C>G)
c.5178-20C>G (n.5178-20C>G)
c.4830-20C>G (n.4830-20C>G)
c.4710-20C>G (n.4710-20C>G)
c.4921-20C>G (n.4921-20C>G)
n.4952-20C>G
c.5337-20C>G (n.5337-20C>G)
c.5274-20C>G (n.5274-20C>G)
c.5265-20C>G (n.5265-20C>G)
c.4875-20C>G (n.4875-20C>G)
c.4734-20C>G (n.4734-20C>G)
c.5166-20C>G (n.5166-20C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41668584G=CA1779071400ANK1c.5220-20C= (n.5220-20C=)
c.5316-20C= (n.5316-20C=)
c.5133-20C= (n.5133-20C=)
c.5097-20C= (n.5097-20C=)
c.1111-20C=
c.669-20C=
c.2575-20C=
n.2491-20C=
c.4611-20C= (n.4611-20C=)
c.5361-20C= (n.5361-20C=)
c.5262-20C= (n.5262-20C=)
c.5196-20C= (n.5196-20C=)
c.5178-20C= (n.5178-20C=)
c.4830-20C= (n.4830-20C=)
c.4710-20C= (n.4710-20C=)
c.4921-20C= (n.4921-20C=)
n.4952-20C=
c.5337-20C= (n.5337-20C=)
c.5274-20C= (n.5274-20C=)
c.5265-20C= (n.5265-20C=)
c.4875-20C= (n.4875-20C=)
c.4734-20C= (n.4734-20C=)
c.5166-20C= (n.5166-20C=)
8g.41668586A=CA1779071402ANK1c.5220-22T= (n.5220-22T=)
c.5316-22T= (n.5316-22T=)
c.5133-22T= (n.5133-22T=)
c.5097-22T= (n.5097-22T=)
c.1111-22T=
c.669-22T=
c.2575-22T=
n.2491-22T=
c.4611-22T= (n.4611-22T=)
c.5361-22T= (n.5361-22T=)
c.5262-22T= (n.5262-22T=)
c.5196-22T= (n.5196-22T=)
c.5178-22T= (n.5178-22T=)
c.4830-22T= (n.4830-22T=)
c.4710-22T= (n.4710-22T=)
c.4921-22T= (n.4921-22T=)
n.4952-22T=
c.5337-22T= (n.5337-22T=)
c.5274-22T= (n.5274-22T=)
c.5265-22T= (n.5265-22T=)
c.4875-22T= (n.4875-22T=)
c.4734-22T= (n.4734-22T=)
c.5166-22T= (n.5166-22T=)
8g.41668586A>CCA4727367ANK1c.5220-22T>G (n.5220-22T>G)
c.5316-22T>G (n.5316-22T>G)
c.5133-22T>G (n.5133-22T>G)
c.5097-22T>G (n.5097-22T>G)
c.1111-22T>G
c.669-22T>G
c.2575-22T>G
n.2491-22T>G
c.4611-22T>G (n.4611-22T>G)
c.5361-22T>G (n.5361-22T>G)
c.5262-22T>G (n.5262-22T>G)
c.5196-22T>G (n.5196-22T>G)
c.5178-22T>G (n.5178-22T>G)
c.4830-22T>G (n.4830-22T>G)
c.4710-22T>G (n.4710-22T>G)
c.4921-22T>G (n.4921-22T>G)
n.4952-22T>G
c.5337-22T>G (n.5337-22T>G)
c.5274-22T>G (n.5274-22T>G)
c.5265-22T>G (n.5265-22T>G)
c.4875-22T>G (n.4875-22T>G)
c.4734-22T>G (n.4734-22T>G)
c.5166-22T>G (n.5166-22T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41668587G>ACA2579152509ANK1c.5220-23C>T (n.5220-23C>T)
c.5316-23C>T (n.5316-23C>T)
c.5133-23C>T (n.5133-23C>T)
c.5097-23C>T (n.5097-23C>T)
c.1111-23C>T
c.669-23C>T
c.2575-23C>T
n.2491-23C>T
c.4611-23C>T (n.4611-23C>T)
c.5361-23C>T (n.5361-23C>T)
c.5262-23C>T (n.5262-23C>T)
c.5196-23C>T (n.5196-23C>T)
c.5178-23C>T (n.5178-23C>T)
c.4830-23C>T (n.4830-23C>T)
c.4710-23C>T (n.4710-23C>T)
c.4921-23C>T (n.4921-23C>T)
n.4952-23C>T
c.5337-23C>T (n.5337-23C>T)
c.5274-23C>T (n.5274-23C>T)
c.5265-23C>T (n.5265-23C>T)
c.4875-23C>T (n.4875-23C>T)
c.4734-23C>T (n.4734-23C>T)
c.5166-23C>T (n.5166-23C>T)
8g.41668587G>CCA4727368ANK1c.5220-23C>G (n.5220-23C>G)
c.5316-23C>G (n.5316-23C>G)
c.5133-23C>G (n.5133-23C>G)
c.5097-23C>G (n.5097-23C>G)
c.1111-23C>G
c.669-23C>G
c.2575-23C>G
n.2491-23C>G
c.4611-23C>G (n.4611-23C>G)
c.5361-23C>G (n.5361-23C>G)
c.5262-23C>G (n.5262-23C>G)
c.5196-23C>G (n.5196-23C>G)
c.5178-23C>G (n.5178-23C>G)
c.4830-23C>G (n.4830-23C>G)
c.4710-23C>G (n.4710-23C>G)
c.4921-23C>G (n.4921-23C>G)
n.4952-23C>G
c.5337-23C>G (n.5337-23C>G)
c.5274-23C>G (n.5274-23C>G)
c.5265-23C>G (n.5265-23C>G)
c.4875-23C>G (n.4875-23C>G)
c.4734-23C>G (n.4734-23C>G)
c.5166-23C>G (n.5166-23C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.41668587G=CA1779071403ANK1c.5220-23C= (n.5220-23C=)
c.5316-23C= (n.5316-23C=)
c.5133-23C= (n.5133-23C=)
c.5097-23C= (n.5097-23C=)
c.1111-23C=
c.669-23C=
c.2575-23C=
n.2491-23C=
c.4611-23C= (n.4611-23C=)
c.5361-23C= (n.5361-23C=)
c.5262-23C= (n.5262-23C=)
c.5196-23C= (n.5196-23C=)
c.5178-23C= (n.5178-23C=)
c.4830-23C= (n.4830-23C=)
c.4710-23C= (n.4710-23C=)
c.4921-23C= (n.4921-23C=)
n.4952-23C=
c.5337-23C= (n.5337-23C=)
c.5274-23C= (n.5274-23C=)
c.5265-23C= (n.5265-23C=)
c.4875-23C= (n.4875-23C=)
c.4734-23C= (n.4734-23C=)
c.5166-23C= (n.5166-23C=)
8g.41668588A=CA1779071404ANK1c.5220-24T= (n.5220-24T=)
c.5316-24T= (n.5316-24T=)
c.5133-24T= (n.5133-24T=)
c.5097-24T= (n.5097-24T=)
c.1111-24T=
c.669-24T=
c.2575-24T=
n.2491-24T=
c.4611-24T= (n.4611-24T=)
c.5361-24T= (n.5361-24T=)
c.5262-24T= (n.5262-24T=)
c.5196-24T= (n.5196-24T=)
c.5178-24T= (n.5178-24T=)
c.4830-24T= (n.4830-24T=)
c.4710-24T= (n.4710-24T=)
c.4921-24T= (n.4921-24T=)
n.4952-24T=
c.5337-24T= (n.5337-24T=)
c.5274-24T= (n.5274-24T=)
c.5265-24T= (n.5265-24T=)
c.4875-24T= (n.4875-24T=)
c.4734-24T= (n.4734-24T=)
c.5166-24T= (n.5166-24T=)
8g.41668588A>GCA1779071405ANK1c.5220-24T>C (n.5220-24T>C)
c.5316-24T>C (n.5316-24T>C)
c.5133-24T>C (n.5133-24T>C)
c.5097-24T>C (n.5097-24T>C)
c.1111-24T>C
c.669-24T>C
c.2575-24T>C
n.2491-24T>C
c.4611-24T>C (n.4611-24T>C)
c.5361-24T>C (n.5361-24T>C)
c.5262-24T>C (n.5262-24T>C)
c.5196-24T>C (n.5196-24T>C)
c.5178-24T>C (n.5178-24T>C)
c.4830-24T>C (n.4830-24T>C)
c.4710-24T>C (n.4710-24T>C)
c.4921-24T>C (n.4921-24T>C)
n.4952-24T>C
c.5337-24T>C (n.5337-24T>C)
c.5274-24T>C (n.5274-24T>C)
c.5265-24T>C (n.5265-24T>C)
c.4875-24T>C (n.4875-24T>C)
c.4734-24T>C (n.4734-24T>C)
c.5166-24T>C (n.5166-24T>C)
 dbSNP
8g.41668591delCA2579152510ANK1c.5220-26del (n.5220-26del)
c.5316-26del (n.5316-26del)
c.5133-26del (n.5133-26del)
c.5097-26del (n.5097-26del)
c.1111-26del
c.669-26del
c.2575-26del
n.2491-26del
c.4611-26del (n.4611-26del)
c.5361-26del (n.5361-26del)
c.5262-26del (n.5262-26del)
c.5196-26del (n.5196-26del)
c.5178-26del (n.5178-26del)
c.4830-26del (n.4830-26del)
c.4710-26del (n.4710-26del)
c.4921-26del (n.4921-26del)
n.4952-26del
c.5337-26del (n.5337-26del)
c.5274-26del (n.5274-26del)
c.5265-26del (n.5265-26del)
c.4875-26del (n.4875-26del)
c.4734-26del (n.4734-26del)
c.5166-26del (n.5166-26del)
8g.41668591G>ACA581585370ANK1c.5220-27C>T (n.5220-27C>T)
c.5316-27C>T (n.5316-27C>T)
c.5133-27C>T (n.5133-27C>T)
c.5097-27C>T (n.5097-27C>T)
c.1111-27C>T
c.669-27C>T
c.2575-27C>T
n.2491-27C>T
c.4611-27C>T (n.4611-27C>T)
c.5361-27C>T (n.5361-27C>T)
c.5262-27C>T (n.5262-27C>T)
c.5196-27C>T (n.5196-27C>T)
c.5178-27C>T (n.5178-27C>T)
c.4830-27C>T (n.4830-27C>T)
c.4710-27C>T (n.4710-27C>T)
c.4921-27C>T (n.4921-27C>T)
n.4952-27C>T
c.5337-27C>T (n.5337-27C>T)
c.5274-27C>T (n.5274-27C>T)
c.5265-27C>T (n.5265-27C>T)
c.4875-27C>T (n.4875-27C>T)
c.4734-27C>T (n.4734-27C>T)
c.5166-27C>T (n.5166-27C>T)
 dbSNP gnomAD v2 gnomAD v4
8g.41668591G=CA1779071406ANK1c.5220-27C= (n.5220-27C=)
c.5316-27C= (n.5316-27C=)
c.5133-27C= (n.5133-27C=)
c.5097-27C= (n.5097-27C=)
c.1111-27C=
c.669-27C=
c.2575-27C=
n.2491-27C=
c.4611-27C= (n.4611-27C=)
c.5361-27C= (n.5361-27C=)
c.5262-27C= (n.5262-27C=)
c.5196-27C= (n.5196-27C=)
c.5178-27C= (n.5178-27C=)
c.4830-27C= (n.4830-27C=)
c.4710-27C= (n.4710-27C=)
c.4921-27C= (n.4921-27C=)
n.4952-27C=
c.5337-27C= (n.5337-27C=)
c.5274-27C= (n.5274-27C=)
c.5265-27C= (n.5265-27C=)
c.4875-27C= (n.4875-27C=)
c.4734-27C= (n.4734-27C=)
c.5166-27C= (n.5166-27C=)
8g.41668593C=CA1779071407ANK1c.5220-29G= (n.5220-29G=)
c.5316-29G= (n.5316-29G=)
c.5133-29G= (n.5133-29G=)
c.5097-29G= (n.5097-29G=)
c.1111-29G=
c.669-29G=
c.2575-29G=
n.2491-29G=
c.4611-29G= (n.4611-29G=)
c.5361-29G= (n.5361-29G=)
c.5262-29G= (n.5262-29G=)
c.5196-29G= (n.5196-29G=)
c.5178-29G= (n.5178-29G=)
c.4830-29G= (n.4830-29G=)
c.4710-29G= (n.4710-29G=)
c.4921-29G= (n.4921-29G=)
n.4952-29G=
c.5337-29G= (n.5337-29G=)
c.5274-29G= (n.5274-29G=)
c.5265-29G= (n.5265-29G=)
c.4875-29G= (n.4875-29G=)
c.4734-29G= (n.4734-29G=)
c.5166-29G= (n.5166-29G=)
8g.41668593C>TCA4727369ANK1c.5220-29G>A (n.5220-29G>A)
c.5316-29G>A (n.5316-29G>A)
c.5133-29G>A (n.5133-29G>A)
c.5097-29G>A (n.5097-29G>A)
c.1111-29G>A
c.669-29G>A
c.2575-29G>A
n.2491-29G>A
c.4611-29G>A (n.4611-29G>A)
c.5361-29G>A (n.5361-29G>A)
c.5262-29G>A (n.5262-29G>A)
c.5196-29G>A (n.5196-29G>A)
c.5178-29G>A (n.5178-29G>A)
c.4830-29G>A (n.4830-29G>A)
c.4710-29G>A (n.4710-29G>A)
c.4921-29G>A (n.4921-29G>A)
n.4952-29G>A
c.5337-29G>A (n.5337-29G>A)
c.5274-29G>A (n.5274-29G>A)
c.5265-29G>A (n.5265-29G>A)
c.4875-29G>A (n.4875-29G>A)
c.4734-29G>A (n.4734-29G>A)
c.5166-29G>A (n.5166-29G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41668593_41668594delinsCGCA1779071409ANK1c.5220-30_5220-29delinsCG (n.5220-30_5220-29delinsCG)
c.5316-30_5316-29delinsCG (n.5316-30_5316-29delinsCG)
c.5133-30_5133-29delinsCG (n.5133-30_5133-29delinsCG)
c.5097-30_5097-29delinsCG (n.5097-30_5097-29delinsCG)
c.1111-30_1111-29delinsCG
c.669-30_669-29delinsCG
c.2575-30_2575-29delinsCG
n.2491-30_2491-29delinsCG
c.4611-30_4611-29delinsCG (n.4611-30_4611-29delinsCG)
c.5361-30_5361-29delinsCG (n.5361-30_5361-29delinsCG)
c.5262-30_5262-29delinsCG (n.5262-30_5262-29delinsCG)
c.5196-30_5196-29delinsCG (n.5196-30_5196-29delinsCG)
c.5178-30_5178-29delinsCG (n.5178-30_5178-29delinsCG)
c.4830-30_4830-29delinsCG (n.4830-30_4830-29delinsCG)
c.4710-30_4710-29delinsCG (n.4710-30_4710-29delinsCG)
c.4921-30_4921-29delinsCG (n.4921-30_4921-29delinsCG)
n.4952-30_4952-29delinsCG
c.5337-30_5337-29delinsCG (n.5337-30_5337-29delinsCG)
c.5274-30_5274-29delinsCG (n.5274-30_5274-29delinsCG)
c.5265-30_5265-29delinsCG (n.5265-30_5265-29delinsCG)
c.4875-30_4875-29delinsCG (n.4875-30_4875-29delinsCG)
c.4734-30_4734-29delinsCG (n.4734-30_4734-29delinsCG)
c.5166-30_5166-29delinsCG (n.5166-30_5166-29delinsCG)
8g.41668594G>ACA4727371ANK1c.5220-30C>T (n.5220-30C>T)
c.5316-30C>T (n.5316-30C>T)
c.5133-30C>T (n.5133-30C>T)
c.5097-30C>T (n.5097-30C>T)
c.1111-30C>T
c.669-30C>T
c.2575-30C>T
n.2491-30C>T
c.4611-30C>T (n.4611-30C>T)
c.5361-30C>T (n.5361-30C>T)
c.5262-30C>T (n.5262-30C>T)
c.5196-30C>T (n.5196-30C>T)
c.5178-30C>T (n.5178-30C>T)
c.4830-30C>T (n.4830-30C>T)
c.4710-30C>T (n.4710-30C>T)
c.4921-30C>T (n.4921-30C>T)
n.4952-30C>T
c.5337-30C>T (n.5337-30C>T)
c.5274-30C>T (n.5274-30C>T)
c.5265-30C>T (n.5265-30C>T)
c.4875-30C>T (n.4875-30C>T)
c.4734-30C>T (n.4734-30C>T)
c.5166-30C>T (n.5166-30C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41668594G>CCA4727372ANK1c.5220-30C>G (n.5220-30C>G)
c.5316-30C>G (n.5316-30C>G)
c.5133-30C>G (n.5133-30C>G)
c.5097-30C>G (n.5097-30C>G)
c.1111-30C>G
c.669-30C>G
c.2575-30C>G
n.2491-30C>G
c.4611-30C>G (n.4611-30C>G)
c.5361-30C>G (n.5361-30C>G)
c.5262-30C>G (n.5262-30C>G)
c.5196-30C>G (n.5196-30C>G)
c.5178-30C>G (n.5178-30C>G)
c.4830-30C>G (n.4830-30C>G)
c.4710-30C>G (n.4710-30C>G)
c.4921-30C>G (n.4921-30C>G)
n.4952-30C>G
c.5337-30C>G (n.5337-30C>G)
c.5274-30C>G (n.5274-30C>G)
c.5265-30C>G (n.5265-30C>G)
c.4875-30C>G (n.4875-30C>G)
c.4734-30C>G (n.4734-30C>G)
c.5166-30C>G (n.5166-30C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.41668594G=CA1779071410ANK1c.5220-30C= (n.5220-30C=)
c.5316-30C= (n.5316-30C=)
c.5133-30C= (n.5133-30C=)
c.5097-30C= (n.5097-30C=)
c.1111-30C=
c.669-30C=
c.2575-30C=
n.2491-30C=
c.4611-30C= (n.4611-30C=)
c.5361-30C= (n.5361-30C=)
c.5262-30C= (n.5262-30C=)
c.5196-30C= (n.5196-30C=)
c.5178-30C= (n.5178-30C=)
c.4830-30C= (n.4830-30C=)
c.4710-30C= (n.4710-30C=)
c.4921-30C= (n.4921-30C=)
n.4952-30C=
c.5337-30C= (n.5337-30C=)
c.5274-30C= (n.5274-30C=)
c.5265-30C= (n.5265-30C=)
c.4875-30C= (n.4875-30C=)
c.4734-30C= (n.4734-30C=)
c.5166-30C= (n.5166-30C=)
8g.41668595delCA4727370ANK1c.5220-30del (n.5220-30del)
c.5316-30del (n.5316-30del)
c.5133-30del (n.5133-30del)
c.5097-30del (n.5097-30del)
c.1111-30del
c.669-30del
c.2575-30del
n.2491-30del
c.4611-30del (n.4611-30del)
c.5361-30del (n.5361-30del)
c.5262-30del (n.5262-30del)
c.5196-30del (n.5196-30del)
c.5178-30del (n.5178-30del)
c.4830-30del (n.4830-30del)
c.4710-30del (n.4710-30del)
c.4921-30del (n.4921-30del)
n.4952-30del
c.5337-30del (n.5337-30del)
c.5274-30del (n.5274-30del)
c.5265-30del (n.5265-30del)
c.4875-30del (n.4875-30del)
c.4734-30del (n.4734-30del)
c.5166-30del (n.5166-30del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41668596C=CA1779071412ANK1c.5220-32G= (n.5220-32G=)
c.5316-32G= (n.5316-32G=)
c.5133-32G= (n.5133-32G=)
c.5097-32G= (n.5097-32G=)
c.1111-32G=
c.669-32G=
c.2575-32G=
n.2491-32G=
c.4611-32G= (n.4611-32G=)
c.5361-32G= (n.5361-32G=)
c.5262-32G= (n.5262-32G=)
c.5196-32G= (n.5196-32G=)
c.5178-32G= (n.5178-32G=)
c.4830-32G= (n.4830-32G=)
c.4710-32G= (n.4710-32G=)
c.4921-32G= (n.4921-32G=)
n.4952-32G=
c.5337-32G= (n.5337-32G=)
c.5274-32G= (n.5274-32G=)
c.5265-32G= (n.5265-32G=)
c.4875-32G= (n.4875-32G=)
c.4734-32G= (n.4734-32G=)
c.5166-32G= (n.5166-32G=)
8g.41668596C>GCA2687065200ANK1c.5220-32G>C (n.5220-32G>C)
c.5316-32G>C (n.5316-32G>C)
c.5133-32G>C (n.5133-32G>C)
c.5097-32G>C (n.5097-32G>C)
c.1111-32G>C
c.669-32G>C
c.2575-32G>C
n.2491-32G>C
c.4611-32G>C (n.4611-32G>C)
c.5361-32G>C (n.5361-32G>C)
c.5262-32G>C (n.5262-32G>C)
c.5196-32G>C (n.5196-32G>C)
c.5178-32G>C (n.5178-32G>C)
c.4830-32G>C (n.4830-32G>C)
c.4710-32G>C (n.4710-32G>C)
c.4921-32G>C (n.4921-32G>C)
n.4952-32G>C
c.5337-32G>C (n.5337-32G>C)
c.5274-32G>C (n.5274-32G>C)
c.5265-32G>C (n.5265-32G>C)
c.4875-32G>C (n.4875-32G>C)
c.4734-32G>C (n.4734-32G>C)
c.5166-32G>C (n.5166-32G>C)
 gnomAD v4
8g.41668596C>TCA4727373ANK1c.5220-32G>A (n.5220-32G>A)
c.5316-32G>A (n.5316-32G>A)
c.5133-32G>A (n.5133-32G>A)
c.5097-32G>A (n.5097-32G>A)
c.1111-32G>A
c.669-32G>A
c.2575-32G>A
n.2491-32G>A
c.4611-32G>A (n.4611-32G>A)
c.5361-32G>A (n.5361-32G>A)
c.5262-32G>A (n.5262-32G>A)
c.5196-32G>A (n.5196-32G>A)
c.5178-32G>A (n.5178-32G>A)
c.4830-32G>A (n.4830-32G>A)
c.4710-32G>A (n.4710-32G>A)
c.4921-32G>A (n.4921-32G>A)
n.4952-32G>A
c.5337-32G>A (n.5337-32G>A)
c.5274-32G>A (n.5274-32G>A)
c.5265-32G>A (n.5265-32G>A)
c.4875-32G>A (n.4875-32G>A)
c.4734-32G>A (n.4734-32G>A)
c.5166-32G>A (n.5166-32G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.41668597delCA2579152511ANK1c.5220-32del (n.5220-32del)
c.5316-32del (n.5316-32del)
c.5133-32del (n.5133-32del)
c.5097-32del (n.5097-32del)
c.1111-32del
c.669-32del
c.2575-32del
n.2491-32del
c.4611-32del (n.4611-32del)
c.5361-32del (n.5361-32del)
c.5262-32del (n.5262-32del)
c.5196-32del (n.5196-32del)
c.5178-32del (n.5178-32del)
c.4830-32del (n.4830-32del)
c.4710-32del (n.4710-32del)
c.4921-32del (n.4921-32del)
n.4952-32del
c.5337-32del (n.5337-32del)
c.5274-32del (n.5274-32del)
c.5265-32del (n.5265-32del)
c.4875-32del (n.4875-32del)
c.4734-32del (n.4734-32del)
c.5166-32del (n.5166-32del)
8g.41668597C>ACA2687065202ANK1c.5220-33G>T (n.5220-33G>T)
c.5316-33G>T (n.5316-33G>T)
c.5133-33G>T (n.5133-33G>T)
c.5097-33G>T (n.5097-33G>T)
c.1111-33G>T
c.669-33G>T
c.2575-33G>T
n.2491-33G>T
c.4611-33G>T (n.4611-33G>T)
c.5361-33G>T (n.5361-33G>T)
c.5262-33G>T (n.5262-33G>T)
c.5196-33G>T (n.5196-33G>T)
c.5178-33G>T (n.5178-33G>T)
c.4830-33G>T (n.4830-33G>T)
c.4710-33G>T (n.4710-33G>T)
c.4921-33G>T (n.4921-33G>T)
n.4952-33G>T
c.5337-33G>T (n.5337-33G>T)
c.5274-33G>T (n.5274-33G>T)
c.5265-33G>T (n.5265-33G>T)
c.4875-33G>T (n.4875-33G>T)
c.4734-33G>T (n.4734-33G>T)
c.5166-33G>T (n.5166-33G>T)
 gnomAD v4
8g.41668597C=CA1779071414ANK1c.5220-33G= (n.5220-33G=)
c.5316-33G= (n.5316-33G=)
c.5133-33G= (n.5133-33G=)
c.5097-33G= (n.5097-33G=)
c.1111-33G=
c.669-33G=
c.2575-33G=
n.2491-33G=
c.4611-33G= (n.4611-33G=)
c.5361-33G= (n.5361-33G=)
c.5262-33G= (n.5262-33G=)
c.5196-33G= (n.5196-33G=)
c.5178-33G= (n.5178-33G=)
c.4830-33G= (n.4830-33G=)
c.4710-33G= (n.4710-33G=)
c.4921-33G= (n.4921-33G=)
n.4952-33G=
c.5337-33G= (n.5337-33G=)
c.5274-33G= (n.5274-33G=)
c.5265-33G= (n.5265-33G=)
c.4875-33G= (n.4875-33G=)
c.4734-33G= (n.4734-33G=)
c.5166-33G= (n.5166-33G=)
8g.41668597C>GCA2687065201ANK1c.5220-33G>C (n.5220-33G>C)
c.5316-33G>C (n.5316-33G>C)
c.5133-33G>C (n.5133-33G>C)
c.5097-33G>C (n.5097-33G>C)
c.1111-33G>C
c.669-33G>C
c.2575-33G>C
n.2491-33G>C
c.4611-33G>C (n.4611-33G>C)
c.5361-33G>C (n.5361-33G>C)
c.5262-33G>C (n.5262-33G>C)
c.5196-33G>C (n.5196-33G>C)
c.5178-33G>C (n.5178-33G>C)
c.4830-33G>C (n.4830-33G>C)
c.4710-33G>C (n.4710-33G>C)
c.4921-33G>C (n.4921-33G>C)
n.4952-33G>C
c.5337-33G>C (n.5337-33G>C)
c.5274-33G>C (n.5274-33G>C)
c.5265-33G>C (n.5265-33G>C)
c.4875-33G>C (n.4875-33G>C)
c.4734-33G>C (n.4734-33G>C)
c.5166-33G>C (n.5166-33G>C)
 gnomAD v4
8g.41668597C>TCA1779071413ANK1c.5220-33G>A (n.5220-33G>A)
c.5316-33G>A (n.5316-33G>A)
c.5133-33G>A (n.5133-33G>A)
c.5097-33G>A (n.5097-33G>A)
c.1111-33G>A
c.669-33G>A
c.2575-33G>A
n.2491-33G>A
c.4611-33G>A (n.4611-33G>A)
c.5361-33G>A (n.5361-33G>A)
c.5262-33G>A (n.5262-33G>A)
c.5196-33G>A (n.5196-33G>A)
c.5178-33G>A (n.5178-33G>A)
c.4830-33G>A (n.4830-33G>A)
c.4710-33G>A (n.4710-33G>A)
c.4921-33G>A (n.4921-33G>A)
n.4952-33G>A
c.5337-33G>A (n.5337-33G>A)
c.5274-33G>A (n.5274-33G>A)
c.5265-33G>A (n.5265-33G>A)
c.4875-33G>A (n.4875-33G>A)
c.4734-33G>A (n.4734-33G>A)
c.5166-33G>A (n.5166-33G>A)
 ClinVar dbSNP gnomAD v4
8g.41668598G>ACA4727374ANK1c.5220-34C>T (n.5220-34C>T)
c.5316-34C>T (n.5316-34C>T)
c.5133-34C>T (n.5133-34C>T)
c.5097-34C>T (n.5097-34C>T)
c.1111-34C>T
c.669-34C>T
c.2575-34C>T
n.2491-34C>T
c.4611-34C>T (n.4611-34C>T)
c.5361-34C>T (n.5361-34C>T)
c.5262-34C>T (n.5262-34C>T)
c.5196-34C>T (n.5196-34C>T)
c.5178-34C>T (n.5178-34C>T)
c.4830-34C>T (n.4830-34C>T)
c.4710-34C>T (n.4710-34C>T)
c.4921-34C>T (n.4921-34C>T)
n.4952-34C>T
c.5337-34C>T (n.5337-34C>T)
c.5274-34C>T (n.5274-34C>T)
c.5265-34C>T (n.5265-34C>T)
c.4875-34C>T (n.4875-34C>T)
c.4734-34C>T (n.4734-34C>T)
c.5166-34C>T (n.5166-34C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.41668598G>CCA2580815732ANK1c.5220-34C>G (n.5220-34C>G)
c.5316-34C>G (n.5316-34C>G)
c.5133-34C>G (n.5133-34C>G)
c.5097-34C>G (n.5097-34C>G)
c.1111-34C>G
c.669-34C>G
c.2575-34C>G
n.2491-34C>G
c.4611-34C>G (n.4611-34C>G)
c.5361-34C>G (n.5361-34C>G)
c.5262-34C>G (n.5262-34C>G)
c.5196-34C>G (n.5196-34C>G)
c.5178-34C>G (n.5178-34C>G)
c.4830-34C>G (n.4830-34C>G)
c.4710-34C>G (n.4710-34C>G)
c.4921-34C>G (n.4921-34C>G)
n.4952-34C>G
c.5337-34C>G (n.5337-34C>G)
c.5274-34C>G (n.5274-34C>G)
c.5265-34C>G (n.5265-34C>G)
c.4875-34C>G (n.4875-34C>G)
c.4734-34C>G (n.4734-34C>G)
c.5166-34C>G (n.5166-34C>G)
 gnomAD v3 gnomAD v4
8g.41668598G=CA1779071416ANK1c.5220-34C= (n.5220-34C=)
c.5316-34C= (n.5316-34C=)
c.5133-34C= (n.5133-34C=)
c.5097-34C= (n.5097-34C=)
c.1111-34C=
c.669-34C=
c.2575-34C=
n.2491-34C=
c.4611-34C= (n.4611-34C=)
c.5361-34C= (n.5361-34C=)
c.5262-34C= (n.5262-34C=)
c.5196-34C= (n.5196-34C=)
c.5178-34C= (n.5178-34C=)
c.4830-34C= (n.4830-34C=)
c.4710-34C= (n.4710-34C=)
c.4921-34C= (n.4921-34C=)
n.4952-34C=
c.5337-34C= (n.5337-34C=)
c.5274-34C= (n.5274-34C=)
c.5265-34C= (n.5265-34C=)
c.4875-34C= (n.4875-34C=)
c.4734-34C= (n.4734-34C=)
c.5166-34C= (n.5166-34C=)
8g.41668598G>TCA2580815731ANK1c.5220-34C>A (n.5220-34C>A)
c.5316-34C>A (n.5316-34C>A)
c.5133-34C>A (n.5133-34C>A)
c.5097-34C>A (n.5097-34C>A)
c.1111-34C>A
c.669-34C>A
c.2575-34C>A
n.2491-34C>A
c.4611-34C>A (n.4611-34C>A)
c.5361-34C>A (n.5361-34C>A)
c.5262-34C>A (n.5262-34C>A)
c.5196-34C>A (n.5196-34C>A)
c.5178-34C>A (n.5178-34C>A)
c.4830-34C>A (n.4830-34C>A)
c.4710-34C>A (n.4710-34C>A)
c.4921-34C>A (n.4921-34C>A)
n.4952-34C>A
c.5337-34C>A (n.5337-34C>A)
c.5274-34C>A (n.5274-34C>A)
c.5265-34C>A (n.5265-34C>A)
c.4875-34C>A (n.4875-34C>A)
c.4734-34C>A (n.4734-34C>A)
c.5166-34C>A (n.5166-34C>A)
 gnomAD v4
8g.41668599G>TCA2687065203ANK1c.5220-35C>A (n.5220-35C>A)
c.5316-35C>A (n.5316-35C>A)
c.5133-35C>A (n.5133-35C>A)
c.5097-35C>A (n.5097-35C>A)
c.1111-35C>A
c.669-35C>A
c.2575-35C>A
n.2491-35C>A
c.4611-35C>A (n.4611-35C>A)
c.5361-35C>A (n.5361-35C>A)
c.5262-35C>A (n.5262-35C>A)
c.5196-35C>A (n.5196-35C>A)
c.5178-35C>A (n.5178-35C>A)
c.4830-35C>A (n.4830-35C>A)
c.4710-35C>A (n.4710-35C>A)
c.4921-35C>A (n.4921-35C>A)
n.4952-35C>A
c.5337-35C>A (n.5337-35C>A)
c.5274-35C>A (n.5274-35C>A)
c.5265-35C>A (n.5265-35C>A)
c.4875-35C>A (n.4875-35C>A)
c.4734-35C>A (n.4734-35C>A)
c.5166-35C>A (n.5166-35C>A)
 gnomAD v4

Number of alleles fetched