Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.41668489_41668499del | CA2739290071 | ANK1 | c.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) | |
8 | g.41668499C>A | CA371051903 | ANK1 | c.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) | |
8 | g.41668499C>G | CA371051906 | ANK1 | c.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) | |
8 | g.41668499C>T | CA371051909 | ANK1 | c.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) | |
8 | g.41668500A= | CA1779071317 | ANK1 | c.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=) | |
8 | g.41668500A>C | CA371051915 | ANK1 | c.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) | |
8 | g.41668500A>G | CA371051921 | ANK1 | c.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 |
8 | g.41668500A>T | CA371051917 | ANK1 | c.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 |
8 | g.41668501G>A | CA460782099 | ANK1 | c.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 |
8 | g.41668501G>C | CA460782100 | ANK1 | c.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=) | |
8 | g.41668501G>T | CA460782098 | ANK1 | c.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=) | |
8 | g.41668502G>A | CA371051926 | ANK1 | c.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) | |
8 | g.41668502G>C | CA371051929 | ANK1 | c.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) | |
8 | g.41668502G>T | CA371051933 | ANK1 | c.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) | |
8 | g.41668503A>C | CA371051934 | ANK1 | c.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) | |
8 | g.41668503A>G | CA371051938 | ANK1 | c.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) | |
8 | g.41668503A>T | CA371051940 | ANK1 | c.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) | |
8 | g.41668504A>C | CA460782101 | ANK1 | c.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=) | |
8 | g.41668504A>G | CA460782102 | ANK1 | c.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=) | |
8 | g.41668504A>T | CA460782103 | ANK1 | c.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=) | |
8 | g.41668505C>A | CA371051943 | ANK1 | c.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) | |
8 | g.41668505C= | CA1779071319 | ANK1 | c.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=) | |
8 | g.41668505C>G | CA371051949 | ANK1 | c.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) | |
8 | g.41668505C>T | CA4727357 | ANK1 | c.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 |
8 | g.41668506C>A | CA371051954 | ANK1 | c.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) | |
8 | g.41668506C= | CA1779071325 | ANK1 | c.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=) | |
8 | g.41668506C>G | CA371051956 | ANK1 | c.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 |
8 | g.41668506C>T | CA175914382 | ANK1 | c.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 |
8 | g.41668507T>A | CA371051965 | ANK1 | c.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) | |
8 | g.41668507T>C | CA460782104 | ANK1 | c.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=) | |
8 | g.41668507T>G | CA371051963 | ANK1 | c.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) | |
8 | g.41668508T>A | CA371051969 | ANK1 | c.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) | |
8 | g.41668508T>C | CA371051971 | ANK1 | c.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) | |
8 | g.41668508T>G | CA4727358 | ANK1 | c.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 |
8 | g.41668508T= | CA1779071330 | ANK1 | c.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=) | |
8 | g.41668509G>A | CA371051975 | ANK1 | c.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 |
8 | g.41668509G>C | CA371051978 | ANK1 | c.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) | |
8 | g.41668509G= | CA1779071334 | ANK1 | c.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=) | |
8 | g.41668509G>T | CA371051981 | ANK1 | c.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) | |
8 | g.41668510T>A | CA460782105 | ANK1 | c.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=) | |
8 | g.41668510T>C | CA460782106 | ANK1 | c.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=) | |
8 | g.41668510T>G | CA460782107 | ANK1 | c.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=) | |
8 | g.41668511G>A | CA371051982 | ANK1 | c.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) | |
8 | g.41668511G>C | CA371051983 | ANK1 | c.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 |
8 | g.41668511G>T | CA371051984 | ANK1 | c.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) | |
8 | g.41668512C>A | CA371051988 | ANK1 | c.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) | |
8 | g.41668512C>G | CA371051991 | ANK1 | c.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) | |
8 | g.41668512C>T | CA371051994 | ANK1 | c.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) | |
8 | g.41668513A>C | CA460782108 | ANK1 | c.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=) | |
8 | g.41668513A>G | CA460782109 | ANK1 | c.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=) | |
8 | g.41668513A>T | CA460782110 | ANK1 | c.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=) | |
8 | g.41668514G>A | CA371052001 | ANK1 | c.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 |
8 | g.41668514G>C | CA371052003 | ANK1 | c.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) | |
8 | g.41668514G>T | CA371051997 | ANK1 | c.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) | |
8 | g.41668515C>A | CA371052007 | ANK1 | c.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 |
8 | g.41668515C>G | CA371052005 | ANK1 | c.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) | |
8 | g.41668515C>T | CA371052006 | ANK1 | c.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 |
8 | g.41668516A= | CA1779071339 | ANK1 | c.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=) | |
8 | g.41668516A>C | CA371052008 | ANK1 | c.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) | |
8 | g.41668516A>G | CA460782111 | ANK1 | c.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 |
8 | g.41668516A>T | CA371052009 | ANK1 | c.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) | |
8 | g.41668517T>A | CA371052011 | ANK1 | c.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) | |
8 | g.41668517T>C | CA371052014 | ANK1 | c.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) | |
8 | g.41668517T>G | CA371052016 | ANK1 | c.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) | |
8 | g.41668518C>A | CA371052020 | ANK1 | c.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) | |
8 | g.41668518C>G | CA371052022 | ANK1 | c.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) | |
8 | g.41668518C>T | CA371052024 | ANK1 | c.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) | |
8 | g.41668519T>A | CA371052026 | ANK1 | c.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) | |
8 | g.41668519T>C | CA460782112 | ANK1 | c.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=) | |
8 | g.41668519T>G | CA371052030 | ANK1 | c.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) | |
8 | g.41668520T>A | CA371052032 | ANK1 | c.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) | |
8 | g.41668520T>C | CA371052033 | ANK1 | c.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) | |
8 | g.41668520T>G | CA371052031 | ANK1 | c.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) | |
8 | g.41668521G>A | CA371052035 | ANK1 | c.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) | |
8 | g.41668521G>C | CA371052037 | ANK1 | c.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) | |
8 | g.41668521G>T | CA371052038 | ANK1 | c.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) | |
8 | g.41668522C>A | CA460782113 | ANK1 | c.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=) | |
8 | g.41668522C= | CA1779071342 | ANK1 | c.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=) | |
8 | g.41668522C>G | CA460782114 | ANK1 | c.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 |
8 | g.41668522C>T | CA175914387 | ANK1 | c.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 |
8 | g.41668523A>C | CA371052042 | ANK1 | c.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) | |
8 | g.41668523A>G | CA371052044 | ANK1 | c.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) | |
8 | g.41668523A>T | CA371052048 | ANK1 | c.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) | |
8 | g.41668524G>A | CA460782115 | ANK1 | c.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 |
8 | g.41668524G>C | CA175914388 | ANK1 | c.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 |
8 | g.41668524G= | CA1779071344 | ANK1 | c.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=) | |
8 | g.41668524G>T | CA371052057 | ANK1 | c.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) | |
8 | g.41668525G>A | CA460782116 | ANK1 | c.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=) | |
8 | g.41668525G>C | CA371052061 | ANK1 | c.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) | |
8 | g.41668525G>T | CA371052063 | ANK1 | c.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) | |
8 | g.41668526T>A | CA371052069 | ANK1 | c.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 |
8 | g.41668526T>C | CA371052072 | ANK1 | c.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) | |
8 | g.41668526T>G | CA371052074 | ANK1 | c.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) | |
8 | g.41668527A>C | CA371052086 | ANK1 | c.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) | |
8 | g.41668527A>G | CA371052083 | ANK1 | c.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) | |
8 | g.41668527A>T | CA371052078 | ANK1 | c.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) | |
8 | g.41668528T>A | CA460782117 | ANK1 | c.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 |
8 | g.41668528T>C | CA460782118 | ANK1 | c.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=) | |
8 | g.41668528T>G | CA175914392 | ANK1 | c.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 |
8 | g.41668528T= | CA1779071347 | ANK1 | c.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=) | |
8 | g.41668529G>A | CA175914395 | ANK1 | c.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 |
8 | g.41668529G>C | CA371052091 | ANK1 | c.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) | |
8 | g.41668529G= | CA1779071349 | ANK1 | c.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=) | |
8 | g.41668529G>T | CA371052094 | ANK1 | c.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) | |
8 | g.41668530A>C | CA371052097 | ANK1 | c.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) | |
8 | g.41668530A>G | CA371052098 | ANK1 | c.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) | |
8 | g.41668530A>T | CA371052100 | ANK1 | c.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) | |
8 | g.41668531G>A | CA460782119 | ANK1 | c.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=) | |
8 | g.41668531G>C | CA460782120 | ANK1 | c.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=) | |
8 | g.41668531G>T | CA460782121 | ANK1 | c.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=) | |
8 | g.41668532A= | CA1779071352 | ANK1 | c.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=) | |
8 | g.41668532A>C | CA371052103 | ANK1 | c.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) | |
8 | g.41668532A>G | CA371052107 | ANK1 | c.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) | |
8 | g.41668532A>T | CA371052109 | ANK1 | c.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 |
8 | g.41668533C>A | CA371052116 | ANK1 | c.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 |
8 | g.41668533C>G | CA371052122 | ANK1 | c.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) | |
8 | g.41668533C>T | CA371052124 | ANK1 | c.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 |
8 | g.41668534A>C | CA371052128 | ANK1 | c.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) | |
8 | g.41668534A>G | CA460782123 | ANK1 | c.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=) | |
8 | g.41668534A>T | CA460782122 | ANK1 | c.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=) | |
8 | g.41668535A= | CA1779071355 | ANK1 | c.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=) | |
8 | g.41668535A>C | CA371052138 | ANK1 | c.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) | |
8 | g.41668535A>G | CA371052132 | ANK1 | c.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 |
8 | g.41668535A>T | CA371052135 | ANK1 | c.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) | |
8 | g.41668536T>A | CA371052143 | ANK1 | c.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) | |
8 | g.41668536T>C | CA371052146 | ANK1 | c.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 |
8 | g.41668536T>G | CA371052149 | ANK1 | c.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) | |
8 | g.41668537C>A | CA460782124 | ANK1 | c.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=) | |
8 | g.41668537C= | CA1779071357 | ANK1 | c.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=) | |
8 | g.41668537C>G | CA460782125 | ANK1 | c.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=) | |
8 | g.41668537C>T | CA4727359 | ANK1 | c.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 |
8 | g.41668538G>A | CA4727360 | ANK1 | c.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 |
8 | g.41668538G>C | CA371052157 | ANK1 | c.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) | |
8 | g.41668538G= | CA1779071360 | ANK1 | c.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=) | |
8 | g.41668538G>T | CA371052165 | ANK1 | c.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) | |
8 | g.41668539A>C | CA371052171 | ANK1 | c.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) | |
8 | g.41668539A>G | CA371052174 | ANK1 | c.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) | |
8 | g.41668539A>T | CA371052177 | ANK1 | c.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) | |
8 | g.41668540G>A | CA460540311 | ANK1 | c.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=) | |
8 | g.41668540G>C | CA460540309 | ANK1 | c.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=) | |
8 | g.41668540G>T | CA460540307 | ANK1 | c.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=) | |
8 | g.41668541C>A | CA371052182 | ANK1 | c.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) | |
8 | g.41668541C>G | CA371052183 | ANK1 | c.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) | |
8 | g.41668541C>T | CA371052186 | ANK1 | c.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) | |
8 | g.41668542C>A | CA371052195 | ANK1 | c.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 |
8 | g.41668542C= | CA1779071363 | ANK1 | c.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=) | |
8 | g.41668542C>G | CA371052194 | ANK1 | c.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) | |
8 | g.41668542C>T | CA4727361 | ANK1 | c.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 |
8 | g.41668543G>A | CA4727362 | ANK1 | c.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 |
8 | g.41668543G>C | CA371052199 | ANK1 | c.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) | |
8 | g.41668543G= | CA1779071368 | ANK1 | c.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=) | |
8 | g.41668543G>T | CA371052206 | ANK1 | c.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 |
8 | g.41668544T>A | CA371052209 | ANK1 | c.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) | |
8 | g.41668544T>C | CA371052218 | ANK1 | c.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 |
8 | g.41668544T>G | CA371052213 | ANK1 | c.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) | |
8 | g.41668544T= | CA1779071371 | ANK1 | c.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=) | |
8 | g.41668545C>A | CA371052221 | ANK1 | c.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) | |
8 | g.41668545C>G | CA371052222 | ANK1 | c.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 |
8 | g.41668545C>T | CA371052224 | ANK1 | c.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) | |
8 | g.41668546T>A | CA460540329 | ANK1 | c.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=) | |
8 | g.41668546T>C | CA460540331 | ANK1 | c.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=) | |
8 | g.41668546T>G | CA460540337 | ANK1 | c.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 |
8 | g.41668547G>A | CA371052226 | ANK1 | c.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 |
8 | g.41668547G>C | CA371052228 | ANK1 | c.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) | |
8 | g.41668547G>T | CA371052233 | ANK1 | c.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) | |
8 | g.41668548C>A | CA371052236 | ANK1 | c.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) | |
8 | g.41668548C>G | CA371052237 | ANK1 | c.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 |
8 | g.41668548C>T | CA371052239 | ANK1 | c.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) | |
8 | g.41668549A= | CA1779071374 | ANK1 | c.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=) | |
8 | g.41668549A>C | CA371052241 | ANK1 | c.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) | |
8 | g.41668549A>G | CA460540348 | ANK1 | c.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=) | |
8 | g.41668549A>T | CA175914403 | ANK1 | c.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 |
8 | g.41668550T>A | CA371052245 | ANK1 | c.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 |
8 | g.41668550T>C | CA371052246 | ANK1 | c.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) | |
8 | g.41668550T>G | CA371052247 | ANK1 | c.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) | |
8 | g.41668550T= | CA1779071375 | ANK1 | c.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=) | |
8 | g.41668551C>A | CA371052249 | ANK1 | c.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 |
8 | g.41668551C= | CA1779071377 | ANK1 | c.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=) | |
8 | g.41668551C>G | CA371052248 | ANK1 | c.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) | |
8 | g.41668551C>T | CA4727363 | ANK1 | c.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 |
8 | g.41668552C>A | CA371052250 | ANK1 | c.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) | |
8 | g.41668552C>G | CA371052251 | ANK1 | c.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) | |
8 | g.41668552C>T | CA371052252 | ANK1 | c.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) | |
8 | g.41668553C>A | CA371052253 | ANK1 | c.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) | |
8 | g.41668553C>G | CA371052254 | ANK1 | c.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) | |
8 | g.41668553C>T | CA371052255 | ANK1 | c.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 |
8 | g.41668554A>C | CA371052256 | ANK1 | c.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) | |
8 | g.41668554A>G | CA371052257 | ANK1 | c.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) | |
8 | g.41668554A>T | CA371052258 | ANK1 | c.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) | |
8 | g.41668555G>A | CA460540362 | ANK1 | c.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 |
8 | g.41668555G>C | CA371052259 | ANK1 | c.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) | |
8 | g.41668555G>T | CA371052260 | ANK1 | c.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) | |
8 | g.41668556T>A | CA371052261 | ANK1 | c.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) | |
8 | g.41668556T>C | CA371052262 | ANK1 | c.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) | |
8 | g.41668556T>G | CA371052263 | ANK1 | c.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) | |
8 | g.41668557C>A | CA371052265 | ANK1 | c.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) | |
8 | g.41668557C>G | CA371052266 | ANK1 | c.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) | |
8 | g.41668557C>T | CA371052264 | ANK1 | c.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 |
8 | g.41668558C>A | CA371052267 | ANK1 | c.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) | |
8 | g.41668558C>G | CA371052268 | ANK1 | c.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) | |
8 | g.41668558C>T | CA460540374 | ANK1 | c.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 |
8 | g.41668559T>A | CA371052269 | ANK1 | c.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) | |
8 | g.41668559T>C | CA371052270 | ANK1 | c.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) | |
8 | g.41668559T>G | CA371052271 | ANK1 | c.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) | |
8 | g.41668559_41668560delinsTG | CA1779071379 | ANK1 | c.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=) | |
8 | g.41668560del | CA1779071381 | ANK1 | c.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 |
8 | g.41668560G>A | CA371052272 | ANK1 | c.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) | |
8 | g.41668560G>C | CA371052273 | ANK1 | c.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) | |
8 | g.41668560G>T | CA371052274 | ANK1 | c.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) | |
8 | g.41668561C>A | CA460540383 | ANK1 | c.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=) | |
8 | g.41668561C>G | CA460540384 | ANK1 | c.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=) | |
8 | g.41668561C>T | CA460540386 | ANK1 | c.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=) | |
8 | g.41668562A= | CA1779071383 | ANK1 | c.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=) | |
8 | g.41668562A>C | CA371052275 | ANK1 | c.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) | |
8 | g.41668562A>G | CA371052276 | ANK1 | c.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 |
8 | g.41668562A>T | CA371052277 | ANK1 | c.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) | |
8 | g.41668563G>A | CA460540394 | ANK1 | c.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 |
8 | g.41668563G>C | CA371052278 | ANK1 | c.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) | |
8 | g.41668563G= | CA1779071385 | ANK1 | c.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=) | |
8 | g.41668563G>T | CA371052279 | ANK1 | c.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) | |
8 | g.41668564T>A | CA371052281 | ANK1 | c.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) | |
8 | g.41668564T>C | CA460540396 | ANK1 | c.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=) | |
8 | g.41668564T>G | CA371052280 | ANK1 | c.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) | |
8 | g.41668565C>A | CA371052282 | ANK1 | c.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) | |
8 | g.41668565C>G | CA371052283 | ANK1 | c.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) | |
8 | g.41668565C>T | CA371052284 | ANK1 | c.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) | |
8 | g.41668566T>A | CA371052285 | ANK1 | c.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) | |
8 | g.41668566T>C | CA371052286 | ANK1 | c.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) | |
8 | g.41668566T>G | CA371052287 | ANK1 | c.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) | |
8 | g.41668568G>A | CA2687065196 | ANK1 | c.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 |
8 | g.41668568G>C | CA2687065197 | ANK1 | c.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 |
8 | g.41668568G= | CA1779071386 | ANK1 | c.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=) | |
8 | g.41668568G>T | CA4727364 | ANK1 | c.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 |
8 | g.41668569G>T | CA2839241455 | ANK1 | c.5220-5C>A (n.5220-5C>A) c.5316-5C>A (n.5316-5C>A) c.5133-5C>A (n.5133-5C>A) c.5097-5C>A (n.5097-5C>A) c.1111-5C>A c.669-5C>A c.2575-5C>A n.2491-5C>A c.4611-5C>A (n.4611-5C>A) c.5361-5C>A (n.5361-5C>A) c.5262-5C>A (n.5262-5C>A) c.5196-5C>A (n.5196-5C>A) c.5178-5C>A (n.5178-5C>A) c.4830-5C>A (n.4830-5C>A) c.4710-5C>A (n.4710-5C>A) c.4921-5C>A (n.4921-5C>A) n.4952-5C>A c.5337-5C>A (n.5337-5C>A) c.5274-5C>A (n.5274-5C>A) c.5265-5C>A (n.5265-5C>A) c.4875-5C>A (n.4875-5C>A) c.4734-5C>A (n.4734-5C>A) c.5166-5C>A (n.5166-5C>A) | |
8 | g.41668570G= | CA1779071389 | ANK1 | c.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=) | |
8 | g.41668570G>T | CA1779071388 | ANK1 | c.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 |
8 | g.41668571T>C | CA1779071391 | ANK1 | c.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 |
8 | g.41668571T= | CA1779071390 | ANK1 | c.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=) | |
8 | g.41668572C>T | CA2579152507 | ANK1 | c.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 |
8 | g.41668573del | CA2579152506 | ANK1 | c.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) | |
8 | g.41668573C= | CA1779071392 | ANK1 | c.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=) | |
8 | g.41668573C>T | CA1779071393 | ANK1 | c.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 |
8 | g.41668574A= | CA1779071395 | ANK1 | c.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=) | |
8 | g.41668574A>C | CA175914404 | ANK1 | c.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 |
8 | g.41668574A>G | CA1113150859 | ANK1 | c.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 |
8 | g.41668575G>A | CA2779863639 | ANK1 | c.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) | |
8 | g.41668575G>C | CA2687065198 | ANK1 | c.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 |
8 | g.41668576A= | CA1779071396 | ANK1 | c.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=) | |
8 | g.41668576A>G | CA851791149 | ANK1 | c.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 |
8 | g.41668579A= | CA1779071398 | ANK1 | c.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=) | |
8 | g.41668579A>C | CA4727365 | ANK1 | c.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 |
8 | g.41668581G>T | CA2579152508 | ANK1 | c.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) | |
8 | g.41668582C>T | CA2687065199 | ANK1 | c.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 |
8 | g.41668583A>G | CA2841391333 | ANK1 | c.5220-19T>C (n.5220-19T>C) c.5316-19T>C (n.5316-19T>C) c.5133-19T>C (n.5133-19T>C) c.5097-19T>C (n.5097-19T>C) c.1111-19T>C c.669-19T>C c.2575-19T>C n.2491-19T>C c.4611-19T>C (n.4611-19T>C) c.5361-19T>C (n.5361-19T>C) c.5262-19T>C (n.5262-19T>C) c.5196-19T>C (n.5196-19T>C) c.5178-19T>C (n.5178-19T>C) c.4830-19T>C (n.4830-19T>C) c.4710-19T>C (n.4710-19T>C) c.4921-19T>C (n.4921-19T>C) n.4952-19T>C c.5337-19T>C (n.5337-19T>C) c.5274-19T>C (n.5274-19T>C) c.5265-19T>C (n.5265-19T>C) c.4875-19T>C (n.4875-19T>C) c.4734-19T>C (n.4734-19T>C) c.5166-19T>C (n.5166-19T>C) | |
8 | g.41668584G>C | CA4727366 | ANK1 | c.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 |
8 | g.41668584G= | CA1779071400 | ANK1 | c.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=) | |
8 | g.41668586A= | CA1779071402 | ANK1 | c.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=) | |
8 | g.41668586A>C | CA4727367 | ANK1 | c.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 |
8 | g.41668587G>A | CA2579152509 | ANK1 | c.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) | |
8 | g.41668587G>C | CA4727368 | ANK1 | c.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 |
8 | g.41668587G= | CA1779071403 | ANK1 | c.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=) | |
8 | g.41668588A= | CA1779071404 | ANK1 | c.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=) | |
8 | g.41668588A>G | CA1779071405 | ANK1 | c.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 |
8 | g.41668591del | CA2579152510 | ANK1 | c.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) | |
8 | g.41668591G>A | CA581585370 | ANK1 | c.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 |
8 | g.41668591G= | CA1779071406 | ANK1 | c.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=) | |
8 | g.41668593C= | CA1779071407 | ANK1 | c.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=) | |
8 | g.41668593C>T | CA4727369 | ANK1 | c.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 |
8 | g.41668593_41668594delinsCG | CA1779071409 | ANK1 | c.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) | |
8 | g.41668594G>A | CA4727371 | ANK1 | c.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 |
8 | g.41668594G>C | CA4727372 | ANK1 | c.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 |
8 | g.41668594G= | CA1779071410 | ANK1 | c.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=) | |
8 | g.41668595del | CA4727370 | ANK1 | c.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 |
8 | g.41668595G>T | CA2841391334 | ANK1 | c.5220-31C>A (n.5220-31C>A) c.5316-31C>A (n.5316-31C>A) c.5133-31C>A (n.5133-31C>A) c.5097-31C>A (n.5097-31C>A) c.1111-31C>A c.669-31C>A c.2575-31C>A n.2491-31C>A c.4611-31C>A (n.4611-31C>A) c.5361-31C>A (n.5361-31C>A) c.5262-31C>A (n.5262-31C>A) c.5196-31C>A (n.5196-31C>A) c.5178-31C>A (n.5178-31C>A) c.4830-31C>A (n.4830-31C>A) c.4710-31C>A (n.4710-31C>A) c.4921-31C>A (n.4921-31C>A) n.4952-31C>A c.5337-31C>A (n.5337-31C>A) c.5274-31C>A (n.5274-31C>A) c.5265-31C>A (n.5265-31C>A) c.4875-31C>A (n.4875-31C>A) c.4734-31C>A (n.4734-31C>A) c.5166-31C>A (n.5166-31C>A) | |
8 | g.41668596C>A | CA2841391335 | ANK1 | c.5220-32G>T (n.5220-32G>T) c.5316-32G>T (n.5316-32G>T) c.5133-32G>T (n.5133-32G>T) c.5097-32G>T (n.5097-32G>T) c.1111-32G>T c.669-32G>T c.2575-32G>T n.2491-32G>T c.4611-32G>T (n.4611-32G>T) c.5361-32G>T (n.5361-32G>T) c.5262-32G>T (n.5262-32G>T) c.5196-32G>T (n.5196-32G>T) c.5178-32G>T (n.5178-32G>T) c.4830-32G>T (n.4830-32G>T) c.4710-32G>T (n.4710-32G>T) c.4921-32G>T (n.4921-32G>T) n.4952-32G>T c.5337-32G>T (n.5337-32G>T) c.5274-32G>T (n.5274-32G>T) c.5265-32G>T (n.5265-32G>T) c.4875-32G>T (n.4875-32G>T) c.4734-32G>T (n.4734-32G>T) c.5166-32G>T (n.5166-32G>T) | |
8 | g.41668596C= | CA1779071412 | ANK1 | c.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=) | |
8 | g.41668596C>G | CA2687065200 | ANK1 | c.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 |
8 | g.41668596C>T | CA4727373 | ANK1 | c.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 |
8 | g.41668597del | CA2579152511 | ANK1 | c.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) | |
8 | g.41668597C>A | CA2687065202 | ANK1 | c.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 |
8 | g.41668597C= | CA1779071414 | ANK1 | c.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=) | |
8 | g.41668597C>G | CA2687065201 | ANK1 | c.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 |
8 | g.41668597C>T | CA1779071413 | ANK1 | c.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 |
8 | g.41668598G>A | CA4727374 | ANK1 | c.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 |
8 | g.41668598G>C | CA2580815732 | ANK1 | c.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 |
8 | g.41668598G= | CA1779071416 | ANK1 | c.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=) | |
8 | g.41668598G>T | CA2580815731 | ANK1 | c.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 |
8 | g.41668599G>A | CA2839241449 | ANK1 | c.5220-35C>T (n.5220-35C>T) c.5316-35C>T (n.5316-35C>T) c.5133-35C>T (n.5133-35C>T) c.5097-35C>T (n.5097-35C>T) c.1111-35C>T c.669-35C>T c.2575-35C>T n.2491-35C>T c.4611-35C>T (n.4611-35C>T) c.5361-35C>T (n.5361-35C>T) c.5262-35C>T (n.5262-35C>T) c.5196-35C>T (n.5196-35C>T) c.5178-35C>T (n.5178-35C>T) c.4830-35C>T (n.4830-35C>T) c.4710-35C>T (n.4710-35C>T) c.4921-35C>T (n.4921-35C>T) n.4952-35C>T c.5337-35C>T (n.5337-35C>T) c.5274-35C>T (n.5274-35C>T) c.5265-35C>T (n.5265-35C>T) c.4875-35C>T (n.4875-35C>T) c.4734-35C>T (n.4734-35C>T) c.5166-35C>T (n.5166-35C>T) | |
8 | g.41668599G>T | CA2687065203 | ANK1 | c.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 |