Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.41668399C>A | CA460782040 | ANK1 | c.5385G>T (p.Leu1795=) c.5481G>T (p.Leu1827=) c.5298G>T (p.Leu1766=) c.5262G>T (p.Leu1754=) c.1276G>T c.834G>T c.2740G>T n.2656G>T c.4776G>T (p.Leu1592=) c.5526G>T (p.Leu1842=) c.5427G>T (p.Leu1809=) c.5361G>T (p.Leu1787=) c.5343G>T (p.Leu1781=) c.4995G>T (p.Leu1665=) c.4875G>T (p.Leu1625=) c.*43G>T (n.*43G>T) n.5117G>T c.5502G>T (p.Leu1834=) c.5439G>T (p.Leu1813=) c.5430G>T (p.Leu1810=) c.5040G>T (p.Leu1680=) c.4899G>T (p.Leu1633=) c.5331G>T (p.Leu1777=) | |
8 | g.41668399C= | CA1779071145 | ANK1 | c.5385G= (p.Leu1795=) c.5481G= (p.Leu1827=) c.5298G= (p.Leu1766=) c.5262G= (p.Leu1754=) c.1276G= c.834G= c.2740G= n.2656G= c.4776G= (p.Leu1592=) c.5526G= (p.Leu1842=) c.5427G= (p.Leu1809=) c.5361G= (p.Leu1787=) c.5343G= (p.Leu1781=) c.4995G= (p.Leu1665=) c.4875G= (p.Leu1625=) c.*43G= (n.*43G=) n.5117G= c.5502G= (p.Leu1834=) c.5439G= (p.Leu1813=) c.5430G= (p.Leu1810=) c.5040G= (p.Leu1680=) c.4899G= (p.Leu1633=) c.5331G= (p.Leu1777=) | |
8 | g.41668399C>G | CA460782038 | ANK1 | c.5385G>C (p.Leu1795=) c.5481G>C (p.Leu1827=) c.5298G>C (p.Leu1766=) c.5262G>C (p.Leu1754=) c.1276G>C c.834G>C c.2740G>C n.2656G>C c.4776G>C (p.Leu1592=) c.5526G>C (p.Leu1842=) c.5427G>C (p.Leu1809=) c.5361G>C (p.Leu1787=) c.5343G>C (p.Leu1781=) c.4995G>C (p.Leu1665=) c.4875G>C (p.Leu1625=) c.*43G>C (n.*43G>C) n.5117G>C c.5502G>C (p.Leu1834=) c.5439G>C (p.Leu1813=) c.5430G>C (p.Leu1810=) c.5040G>C (p.Leu1680=) c.4899G>C (p.Leu1633=) c.5331G>C (p.Leu1777=) | |
8 | g.41668399C>T | CA460782039 | ANK1 | c.5385G>A (p.Leu1795=) c.5481G>A (p.Leu1827=) c.5298G>A (p.Leu1766=) c.5262G>A (p.Leu1754=) c.1276G>A c.834G>A c.2740G>A n.2656G>A c.4776G>A (p.Leu1592=) c.5526G>A (p.Leu1842=) c.5427G>A (p.Leu1809=) c.5361G>A (p.Leu1787=) c.5343G>A (p.Leu1781=) c.4995G>A (p.Leu1665=) c.4875G>A (p.Leu1625=) c.*43G>A (n.*43G>A) n.5117G>A c.5502G>A (p.Leu1834=) c.5439G>A (p.Leu1813=) c.5430G>A (p.Leu1810=) c.5040G>A (p.Leu1680=) c.4899G>A (p.Leu1633=) c.5331G>A (p.Leu1777=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.41668400A>C | CA371051407 | ANK1 | c.5384T>G (p.Leu1795Arg) c.5480T>G (p.Leu1827Arg) c.5297T>G (p.Leu1766Arg) c.5261T>G (p.Leu1754Arg) c.1275T>G c.833T>G c.2739T>G n.2655T>G c.4775T>G (p.Leu1592Arg) c.5525T>G (p.Leu1842Arg) c.5426T>G (p.Leu1809Arg) c.5360T>G (p.Leu1787Arg) c.5342T>G (p.Leu1781Arg) c.4994T>G (p.Leu1665Arg) c.4874T>G (p.Leu1625Arg) c.*42T>G (n.*42T>G) n.5116T>G c.5501T>G (p.Leu1834Arg) c.5438T>G (p.Leu1813Arg) c.5429T>G (p.Leu1810Arg) c.5039T>G (p.Leu1680Arg) c.4898T>G (p.Leu1633Arg) c.5330T>G (p.Leu1777Arg) | |
8 | g.41668400A>G | CA371051408 | ANK1 | c.5384T>C (p.Leu1795Pro) c.5480T>C (p.Leu1827Pro) c.5297T>C (p.Leu1766Pro) c.5261T>C (p.Leu1754Pro) c.1275T>C c.833T>C c.2739T>C n.2655T>C c.4775T>C (p.Leu1592Pro) c.5525T>C (p.Leu1842Pro) c.5426T>C (p.Leu1809Pro) c.5360T>C (p.Leu1787Pro) c.5342T>C (p.Leu1781Pro) c.4994T>C (p.Leu1665Pro) c.4874T>C (p.Leu1625Pro) c.*42T>C (n.*42T>C) n.5116T>C c.5501T>C (p.Leu1834Pro) c.5438T>C (p.Leu1813Pro) c.5429T>C (p.Leu1810Pro) c.5039T>C (p.Leu1680Pro) c.4898T>C (p.Leu1633Pro) c.5330T>C (p.Leu1777Pro) | gnomAD v4 |
8 | g.41668400A>T | CA371051409 | ANK1 | c.5384T>A (p.Leu1795Gln) c.5480T>A (p.Leu1827Gln) c.5297T>A (p.Leu1766Gln) c.5261T>A (p.Leu1754Gln) c.1275T>A c.833T>A c.2739T>A n.2655T>A c.4775T>A (p.Leu1592Gln) c.5525T>A (p.Leu1842Gln) c.5426T>A (p.Leu1809Gln) c.5360T>A (p.Leu1787Gln) c.5342T>A (p.Leu1781Gln) c.4994T>A (p.Leu1665Gln) c.4874T>A (p.Leu1625Gln) c.*42T>A (n.*42T>A) n.5116T>A c.5501T>A (p.Leu1834Gln) c.5438T>A (p.Leu1813Gln) c.5429T>A (p.Leu1810Gln) c.5039T>A (p.Leu1680Gln) c.4898T>A (p.Leu1633Gln) c.5330T>A (p.Leu1777Gln) | |
8 | g.41668400_41668401delinsAG | CA1779071149 | ANK1 | c.5383_5384delinsCT (p.Leu1795=) c.5479_5480delinsCT (p.Leu1827=) c.5296_5297delinsCT (p.Leu1766=) c.5260_5261delinsCT (p.Leu1754=) c.1274_1275delinsCT c.832_833delinsCT c.2738_2739delinsCT n.2654_2655delinsCT c.4774_4775delinsCT (p.Leu1592=) c.5524_5525delinsCT (p.Leu1842=) c.5425_5426delinsCT (p.Leu1809=) c.5359_5360delinsCT (p.Leu1787=) c.5341_5342delinsCT (p.Leu1781=) c.4993_4994delinsCT (p.Leu1665=) c.4873_4874delinsCT (p.Leu1625=) c.*41_*42delinsCT (n.*41_*42delinsCT) n.5115_5116delinsCT c.5500_5501delinsCT (p.Leu1834=) c.5437_5438delinsCT (p.Leu1813=) c.5428_5429delinsCT (p.Leu1810=) c.5038_5039delinsCT (p.Leu1680=) c.4897_4898delinsCT (p.Leu1633=) c.5329_5330delinsCT (p.Leu1777=) | |
8 | g.41668401G>A | CA460782041 | ANK1 | c.5383C>T (p.Leu1795=) c.5479C>T (p.Leu1827=) c.5296C>T (p.Leu1766=) c.5260C>T (p.Leu1754=) c.1274C>T c.832C>T c.2738C>T n.2654C>T c.4774C>T (p.Leu1592=) c.5524C>T (p.Leu1842=) c.5425C>T (p.Leu1809=) c.5359C>T (p.Leu1787=) c.5341C>T (p.Leu1781=) c.4993C>T (p.Leu1665=) c.4873C>T (p.Leu1625=) c.*41C>T (n.*41C>T) n.5115C>T c.5500C>T (p.Leu1834=) c.5437C>T (p.Leu1813=) c.5428C>T (p.Leu1810=) c.5038C>T (p.Leu1680=) c.4897C>T (p.Leu1633=) c.5329C>T (p.Leu1777=) | dbSNP |
8 | g.41668401G>C | CA371051410 | ANK1 | c.5383C>G (p.Leu1795Val) c.5479C>G (p.Leu1827Val) c.5296C>G (p.Leu1766Val) c.5260C>G (p.Leu1754Val) c.1274C>G c.832C>G c.2738C>G n.2654C>G c.4774C>G (p.Leu1592Val) c.5524C>G (p.Leu1842Val) c.5425C>G (p.Leu1809Val) c.5359C>G (p.Leu1787Val) c.5341C>G (p.Leu1781Val) c.4993C>G (p.Leu1665Val) c.4873C>G (p.Leu1625Val) c.*41C>G (n.*41C>G) n.5115C>G c.5500C>G (p.Leu1834Val) c.5437C>G (p.Leu1813Val) c.5428C>G (p.Leu1810Val) c.5038C>G (p.Leu1680Val) c.4897C>G (p.Leu1633Val) c.5329C>G (p.Leu1777Val) | |
8 | g.41668401G= | CA1779071152 | ANK1 | c.5383C= (p.Leu1795=) c.5479C= (p.Leu1827=) c.5296C= (p.Leu1766=) c.5260C= (p.Leu1754=) c.1274C= c.832C= c.2738C= n.2654C= c.4774C= (p.Leu1592=) c.5524C= (p.Leu1842=) c.5425C= (p.Leu1809=) c.5359C= (p.Leu1787=) c.5341C= (p.Leu1781=) c.4993C= (p.Leu1665=) c.4873C= (p.Leu1625=) c.*41C= (n.*41C=) n.5115C= c.5500C= (p.Leu1834=) c.5437C= (p.Leu1813=) c.5428C= (p.Leu1810=) c.5038C= (p.Leu1680=) c.4897C= (p.Leu1633=) c.5329C= (p.Leu1777=) | |
8 | g.41668401G>T | CA371051411 | ANK1 | c.5383C>A (p.Leu1795Met) c.5479C>A (p.Leu1827Met) c.5296C>A (p.Leu1766Met) c.5260C>A (p.Leu1754Met) c.1274C>A c.832C>A c.2738C>A n.2654C>A c.4774C>A (p.Leu1592Met) c.5524C>A (p.Leu1842Met) c.5425C>A (p.Leu1809Met) c.5359C>A (p.Leu1787Met) c.5341C>A (p.Leu1781Met) c.4993C>A (p.Leu1665Met) c.4873C>A (p.Leu1625Met) c.*41C>A (n.*41C>A) n.5115C>A c.5500C>A (p.Leu1834Met) c.5437C>A (p.Leu1813Met) c.5428C>A (p.Leu1810Met) c.5038C>A (p.Leu1680Met) c.4897C>A (p.Leu1633Met) c.5329C>A (p.Leu1777Met) | |
8 | g.41668402del | CA1779071154 | ANK1 | c.5383del (p.Leu1795TrpfsTer4) c.5479del (p.Leu1827TrpfsTer4) c.5296del (p.Leu1766TrpfsTer4) c.5260del (p.Leu1754TrpfsTer4) c.1274del c.832del c.2738del n.2654del c.4774del (p.Leu1592TrpfsTer4) c.5524del (p.Leu1842TrpfsTer4) c.5425del (p.Leu1809TrpfsTer4) c.5359del (p.Leu1787TrpfsTer4) c.5341del (p.Leu1781TrpfsTer4) c.4993del (p.Leu1665TrpfsTer4) c.4873del (p.Leu1625TrpfsTer4) c.*41del (n.*41del) n.5115del c.5500del (p.Leu1834TrpfsTer4) c.5437del (p.Leu1813TrpfsTer4) c.5428del (p.Leu1810TrpfsTer4) c.5038del (p.Leu1680TrpfsTer4) c.4897del (p.Leu1633TrpfsTer4) c.5329del (p.Leu1777TrpfsTer4) | ClinVar dbSNP |
8 | g.41668402G>A | CA175914304 | ANK1 | c.5382C>T (p.Val1794=) c.5478C>T (p.Val1826=) c.5295C>T (p.Val1765=) c.5259C>T (p.Val1753=) c.1273C>T c.831C>T c.2737C>T n.2653C>T c.4773C>T (p.Val1591=) c.5523C>T (p.Val1841=) c.5424C>T (p.Val1808=) c.5358C>T (p.Val1786=) c.5340C>T (p.Val1780=) c.4992C>T (p.Val1664=) c.4872C>T (p.Val1624=) c.*40C>T (n.*40C>T) n.5114C>T c.5499C>T (p.Val1833=) c.5436C>T (p.Val1812=) c.5427C>T (p.Val1809=) c.5037C>T (p.Val1679=) c.4896C>T (p.Val1632=) c.5328C>T (p.Val1776=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.41668402G>C | CA460782042 | ANK1 | c.5382C>G (p.Val1794=) c.5478C>G (p.Val1826=) c.5295C>G (p.Val1765=) c.5259C>G (p.Val1753=) c.1273C>G c.831C>G c.2737C>G n.2653C>G c.4773C>G (p.Val1591=) c.5523C>G (p.Val1841=) c.5424C>G (p.Val1808=) c.5358C>G (p.Val1786=) c.5340C>G (p.Val1780=) c.4992C>G (p.Val1664=) c.4872C>G (p.Val1624=) c.*40C>G (n.*40C>G) n.5114C>G c.5499C>G (p.Val1833=) c.5436C>G (p.Val1812=) c.5427C>G (p.Val1809=) c.5037C>G (p.Val1679=) c.4896C>G (p.Val1632=) c.5328C>G (p.Val1776=) | |
8 | g.41668402G= | CA1779071158 | ANK1 | c.5382C= (p.Val1794=) c.5478C= (p.Val1826=) c.5295C= (p.Val1765=) c.5259C= (p.Val1753=) c.1273C= c.831C= c.2737C= n.2653C= c.4773C= (p.Val1591=) c.5523C= (p.Val1841=) c.5424C= (p.Val1808=) c.5358C= (p.Val1786=) c.5340C= (p.Val1780=) c.4992C= (p.Val1664=) c.4872C= (p.Val1624=) c.*40C= (n.*40C=) n.5114C= c.5499C= (p.Val1833=) c.5436C= (p.Val1812=) c.5427C= (p.Val1809=) c.5037C= (p.Val1679=) c.4896C= (p.Val1632=) c.5328C= (p.Val1776=) | |
8 | g.41668402G>T | CA460782043 | ANK1 | c.5382C>A (p.Val1794=) c.5478C>A (p.Val1826=) c.5295C>A (p.Val1765=) c.5259C>A (p.Val1753=) c.1273C>A c.831C>A c.2737C>A n.2653C>A c.4773C>A (p.Val1591=) c.5523C>A (p.Val1841=) c.5424C>A (p.Val1808=) c.5358C>A (p.Val1786=) c.5340C>A (p.Val1780=) c.4992C>A (p.Val1664=) c.4872C>A (p.Val1624=) c.*40C>A (n.*40C>A) n.5114C>A c.5499C>A (p.Val1833=) c.5436C>A (p.Val1812=) c.5427C>A (p.Val1809=) c.5037C>A (p.Val1679=) c.4896C>A (p.Val1632=) c.5328C>A (p.Val1776=) | gnomAD v4 |
8 | g.41668403A>C | CA371051412 | ANK1 | c.5381T>G (p.Val1794Gly) c.5477T>G (p.Val1826Gly) c.5294T>G (p.Val1765Gly) c.5258T>G (p.Val1753Gly) c.1272T>G c.830T>G c.2736T>G n.2652T>G c.4772T>G (p.Val1591Gly) c.5522T>G (p.Val1841Gly) c.5423T>G (p.Val1808Gly) c.5357T>G (p.Val1786Gly) c.5339T>G (p.Val1780Gly) c.4991T>G (p.Val1664Gly) c.4871T>G (p.Val1624Gly) c.*39T>G (n.*39T>G) n.5113T>G c.5498T>G (p.Val1833Gly) c.5435T>G (p.Val1812Gly) c.5426T>G (p.Val1809Gly) c.5036T>G (p.Val1679Gly) c.4895T>G (p.Val1632Gly) c.5327T>G (p.Val1776Gly) | |
8 | g.41668403A>G | CA371051413 | ANK1 | c.5381T>C (p.Val1794Ala) c.5477T>C (p.Val1826Ala) c.5294T>C (p.Val1765Ala) c.5258T>C (p.Val1753Ala) c.1272T>C c.830T>C c.2736T>C n.2652T>C c.4772T>C (p.Val1591Ala) c.5522T>C (p.Val1841Ala) c.5423T>C (p.Val1808Ala) c.5357T>C (p.Val1786Ala) c.5339T>C (p.Val1780Ala) c.4991T>C (p.Val1664Ala) c.4871T>C (p.Val1624Ala) c.*39T>C (n.*39T>C) n.5113T>C c.5498T>C (p.Val1833Ala) c.5435T>C (p.Val1812Ala) c.5426T>C (p.Val1809Ala) c.5036T>C (p.Val1679Ala) c.4895T>C (p.Val1632Ala) c.5327T>C (p.Val1776Ala) | |
8 | g.41668403A>T | CA371051414 | ANK1 | c.5381T>A (p.Val1794Asp) c.5477T>A (p.Val1826Asp) c.5294T>A (p.Val1765Asp) c.5258T>A (p.Val1753Asp) c.1272T>A c.830T>A c.2736T>A n.2652T>A c.4772T>A (p.Val1591Asp) c.5522T>A (p.Val1841Asp) c.5423T>A (p.Val1808Asp) c.5357T>A (p.Val1786Asp) c.5339T>A (p.Val1780Asp) c.4991T>A (p.Val1664Asp) c.4871T>A (p.Val1624Asp) c.*39T>A (n.*39T>A) n.5113T>A c.5498T>A (p.Val1833Asp) c.5435T>A (p.Val1812Asp) c.5426T>A (p.Val1809Asp) c.5036T>A (p.Val1679Asp) c.4895T>A (p.Val1632Asp) c.5327T>A (p.Val1776Asp) | |
8 | g.41668404C>A | CA371051415 | ANK1 | c.5380G>T (p.Val1794Phe) c.5476G>T (p.Val1826Phe) c.5293G>T (p.Val1765Phe) c.5257G>T (p.Val1753Phe) c.1271G>T c.829G>T c.2735G>T n.2651G>T c.4771G>T (p.Val1591Phe) c.5521G>T (p.Val1841Phe) c.5422G>T (p.Val1808Phe) c.5356G>T (p.Val1786Phe) c.5338G>T (p.Val1780Phe) c.4990G>T (p.Val1664Phe) c.4870G>T (p.Val1624Phe) c.*38G>T (n.*38G>T) n.5112G>T c.5497G>T (p.Val1833Phe) c.5434G>T (p.Val1812Phe) c.5425G>T (p.Val1809Phe) c.5035G>T (p.Val1679Phe) c.4894G>T (p.Val1632Phe) c.5326G>T (p.Val1776Phe) | |
8 | g.41668404C>G | CA371051416 | ANK1 | c.5380G>C (p.Val1794Leu) c.5476G>C (p.Val1826Leu) c.5293G>C (p.Val1765Leu) c.5257G>C (p.Val1753Leu) c.1271G>C c.829G>C c.2735G>C n.2651G>C c.4771G>C (p.Val1591Leu) c.5521G>C (p.Val1841Leu) c.5422G>C (p.Val1808Leu) c.5356G>C (p.Val1786Leu) c.5338G>C (p.Val1780Leu) c.4990G>C (p.Val1664Leu) c.4870G>C (p.Val1624Leu) c.*38G>C (n.*38G>C) n.5112G>C c.5497G>C (p.Val1833Leu) c.5434G>C (p.Val1812Leu) c.5425G>C (p.Val1809Leu) c.5035G>C (p.Val1679Leu) c.4894G>C (p.Val1632Leu) c.5326G>C (p.Val1776Leu) | |
8 | g.41668404C>T | CA371051417 | ANK1 | c.5380G>A (p.Val1794Ile) c.5476G>A (p.Val1826Ile) c.5293G>A (p.Val1765Ile) c.5257G>A (p.Val1753Ile) c.1271G>A c.829G>A c.2735G>A n.2651G>A c.4771G>A (p.Val1591Ile) c.5521G>A (p.Val1841Ile) c.5422G>A (p.Val1808Ile) c.5356G>A (p.Val1786Ile) c.5338G>A (p.Val1780Ile) c.4990G>A (p.Val1664Ile) c.4870G>A (p.Val1624Ile) c.*38G>A (n.*38G>A) n.5112G>A c.5497G>A (p.Val1833Ile) c.5434G>A (p.Val1812Ile) c.5425G>A (p.Val1809Ile) c.5035G>A (p.Val1679Ile) c.4894G>A (p.Val1632Ile) c.5326G>A (p.Val1776Ile) | |
8 | g.41668404_41668405insT | CA645563694 | ANK1 | c.5379_5380insA (p.Val1794SerfsTer7) c.5475_5476insA (p.Val1826SerfsTer7) c.5292_5293insA (p.Val1765SerfsTer7) c.5256_5257insA (p.Val1753SerfsTer7) c.1270_1271insA c.828_829insA c.2734_2735insA n.2650_2651insA c.4770_4771insA (p.Val1591SerfsTer7) c.5520_5521insA (p.Val1841SerfsTer7) c.5421_5422insA (p.Val1808SerfsTer7) c.5355_5356insA (p.Val1786SerfsTer7) c.5337_5338insA (p.Val1780SerfsTer7) c.4989_4990insA (p.Val1664SerfsTer7) c.4869_4870insA (p.Val1624SerfsTer7) c.*37_*38insA (n.*37_*38insA) n.5111_5112insA c.5496_5497insA (p.Val1833SerfsTer7) c.5433_5434insA (p.Val1812SerfsTer7) c.5424_5425insA (p.Val1809SerfsTer7) c.5034_5035insA (p.Val1679SerfsTer7) c.4893_4894insA (p.Val1632SerfsTer7) c.5325_5326insA (p.Val1776SerfsTer7) | COSMIC COSMIC |
8 | g.41668405C>A | CA371051418 | ANK1 | c.5379G>T (p.Lys1793Asn) c.5475G>T (p.Lys1825Asn) c.5292G>T (p.Lys1764Asn) c.5256G>T (p.Lys1752Asn) c.1270G>T c.828G>T c.2734G>T n.2650G>T c.4770G>T (p.Lys1590Asn) c.5520G>T (p.Lys1840Asn) c.5421G>T (p.Lys1807Asn) c.5355G>T (p.Lys1785Asn) c.5337G>T (p.Lys1779Asn) c.4989G>T (p.Lys1663Asn) c.4869G>T (p.Lys1623Asn) c.*37G>T (n.*37G>T) n.5111G>T c.5496G>T (p.Lys1832Asn) c.5433G>T (p.Lys1811Asn) c.5424G>T (p.Lys1808Asn) c.5034G>T (p.Lys1678Asn) c.4893G>T (p.Lys1631Asn) c.5325G>T (p.Lys1775Asn) | |
8 | g.41668405C= | CA1779071161 | ANK1 | c.5379G= (p.Lys1793=) c.5475G= (p.Lys1825=) c.5292G= (p.Lys1764=) c.5256G= (p.Lys1752=) c.1270G= c.828G= c.2734G= n.2650G= c.4770G= (p.Lys1590=) c.5520G= (p.Lys1840=) c.5421G= (p.Lys1807=) c.5355G= (p.Lys1785=) c.5337G= (p.Lys1779=) c.4989G= (p.Lys1663=) c.4869G= (p.Lys1623=) c.*37G= (n.*37G=) n.5111G= c.5496G= (p.Lys1832=) c.5433G= (p.Lys1811=) c.5424G= (p.Lys1808=) c.5034G= (p.Lys1678=) c.4893G= (p.Lys1631=) c.5325G= (p.Lys1775=) | |
8 | g.41668405C>G | CA4727337 | ANK1 | c.5379G>C (p.Lys1793Asn) c.5475G>C (p.Lys1825Asn) c.5292G>C (p.Lys1764Asn) c.5256G>C (p.Lys1752Asn) c.1270G>C c.828G>C c.2734G>C n.2650G>C c.4770G>C (p.Lys1590Asn) c.5520G>C (p.Lys1840Asn) c.5421G>C (p.Lys1807Asn) c.5355G>C (p.Lys1785Asn) c.5337G>C (p.Lys1779Asn) c.4989G>C (p.Lys1663Asn) c.4869G>C (p.Lys1623Asn) c.*37G>C (n.*37G>C) n.5111G>C c.5496G>C (p.Lys1832Asn) c.5433G>C (p.Lys1811Asn) c.5424G>C (p.Lys1808Asn) c.5034G>C (p.Lys1678Asn) c.4893G>C (p.Lys1631Asn) c.5325G>C (p.Lys1775Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.41668405C>T | CA4727338 | ANK1 | c.5379G>A (p.Lys1793=) c.5475G>A (p.Lys1825=) c.5292G>A (p.Lys1764=) c.5256G>A (p.Lys1752=) c.1270G>A c.828G>A c.2734G>A n.2650G>A c.4770G>A (p.Lys1590=) c.5520G>A (p.Lys1840=) c.5421G>A (p.Lys1807=) c.5355G>A (p.Lys1785=) c.5337G>A (p.Lys1779=) c.4989G>A (p.Lys1663=) c.4869G>A (p.Lys1623=) c.*37G>A (n.*37G>A) n.5111G>A c.5496G>A (p.Lys1832=) c.5433G>A (p.Lys1811=) c.5424G>A (p.Lys1808=) c.5034G>A (p.Lys1678=) c.4893G>A (p.Lys1631=) c.5325G>A (p.Lys1775=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.41668406T>A | CA371051423 | ANK1 | c.5378A>T (p.Lys1793Met) c.5474A>T (p.Lys1825Met) c.5291A>T (p.Lys1764Met) c.5255A>T (p.Lys1752Met) c.1269A>T c.827A>T c.2733A>T n.2649A>T c.4769A>T (p.Lys1590Met) c.5519A>T (p.Lys1840Met) c.5420A>T (p.Lys1807Met) c.5354A>T (p.Lys1785Met) c.5336A>T (p.Lys1779Met) c.4988A>T (p.Lys1663Met) c.4868A>T (p.Lys1623Met) c.*36A>T (n.*36A>T) n.5110A>T c.5495A>T (p.Lys1832Met) c.5432A>T (p.Lys1811Met) c.5423A>T (p.Lys1808Met) c.5033A>T (p.Lys1678Met) c.4892A>T (p.Lys1631Met) c.5324A>T (p.Lys1775Met) | |
8 | g.41668406T>C | CA371051425 | ANK1 | c.5378A>G (p.Lys1793Arg) c.5474A>G (p.Lys1825Arg) c.5291A>G (p.Lys1764Arg) c.5255A>G (p.Lys1752Arg) c.1269A>G c.827A>G c.2733A>G n.2649A>G c.4769A>G (p.Lys1590Arg) c.5519A>G (p.Lys1840Arg) c.5420A>G (p.Lys1807Arg) c.5354A>G (p.Lys1785Arg) c.5336A>G (p.Lys1779Arg) c.4988A>G (p.Lys1663Arg) c.4868A>G (p.Lys1623Arg) c.*36A>G (n.*36A>G) n.5110A>G c.5495A>G (p.Lys1832Arg) c.5432A>G (p.Lys1811Arg) c.5423A>G (p.Lys1808Arg) c.5033A>G (p.Lys1678Arg) c.4892A>G (p.Lys1631Arg) c.5324A>G (p.Lys1775Arg) | |
8 | g.41668406T>G | CA371051427 | ANK1 | c.5378A>C (p.Lys1793Thr) c.5474A>C (p.Lys1825Thr) c.5291A>C (p.Lys1764Thr) c.5255A>C (p.Lys1752Thr) c.1269A>C c.827A>C c.2733A>C n.2649A>C c.4769A>C (p.Lys1590Thr) c.5519A>C (p.Lys1840Thr) c.5420A>C (p.Lys1807Thr) c.5354A>C (p.Lys1785Thr) c.5336A>C (p.Lys1779Thr) c.4988A>C (p.Lys1663Thr) c.4868A>C (p.Lys1623Thr) c.*36A>C (n.*36A>C) n.5110A>C c.5495A>C (p.Lys1832Thr) c.5432A>C (p.Lys1811Thr) c.5423A>C (p.Lys1808Thr) c.5033A>C (p.Lys1678Thr) c.4892A>C (p.Lys1631Thr) c.5324A>C (p.Lys1775Thr) | |
8 | g.41668407T>A | CA371051432 | ANK1 | c.5377A>T (p.Lys1793Ter) c.5473A>T (p.Lys1825Ter) c.5290A>T (p.Lys1764Ter) c.5254A>T (p.Lys1752Ter) c.1268A>T c.826A>T c.2732A>T n.2648A>T c.4768A>T (p.Lys1590Ter) c.5518A>T (p.Lys1840Ter) c.5419A>T (p.Lys1807Ter) c.5353A>T (p.Lys1785Ter) c.5335A>T (p.Lys1779Ter) c.4987A>T (p.Lys1663Ter) c.4867A>T (p.Lys1623Ter) c.*35A>T (n.*35A>T) n.5109A>T c.5494A>T (p.Lys1832Ter) c.5431A>T (p.Lys1811Ter) c.5422A>T (p.Lys1808Ter) c.5032A>T (p.Lys1678Ter) c.4891A>T (p.Lys1631Ter) c.5323A>T (p.Lys1775Ter) | |
8 | g.41668407T>C | CA371051434 | ANK1 | c.5377A>G (p.Lys1793Glu) c.5473A>G (p.Lys1825Glu) c.5290A>G (p.Lys1764Glu) c.5254A>G (p.Lys1752Glu) c.1268A>G c.826A>G c.2732A>G n.2648A>G c.4768A>G (p.Lys1590Glu) c.5518A>G (p.Lys1840Glu) c.5419A>G (p.Lys1807Glu) c.5353A>G (p.Lys1785Glu) c.5335A>G (p.Lys1779Glu) c.4987A>G (p.Lys1663Glu) c.4867A>G (p.Lys1623Glu) c.*35A>G (n.*35A>G) n.5109A>G c.5494A>G (p.Lys1832Glu) c.5431A>G (p.Lys1811Glu) c.5422A>G (p.Lys1808Glu) c.5032A>G (p.Lys1678Glu) c.4891A>G (p.Lys1631Glu) c.5323A>G (p.Lys1775Glu) | |
8 | g.41668407T>G | CA371051430 | ANK1 | c.5377A>C (p.Lys1793Gln) c.5473A>C (p.Lys1825Gln) c.5290A>C (p.Lys1764Gln) c.5254A>C (p.Lys1752Gln) c.1268A>C c.826A>C c.2732A>C n.2648A>C c.4768A>C (p.Lys1590Gln) c.5518A>C (p.Lys1840Gln) c.5419A>C (p.Lys1807Gln) c.5353A>C (p.Lys1785Gln) c.5335A>C (p.Lys1779Gln) c.4987A>C (p.Lys1663Gln) c.4867A>C (p.Lys1623Gln) c.*35A>C (n.*35A>C) n.5109A>C c.5494A>C (p.Lys1832Gln) c.5431A>C (p.Lys1811Gln) c.5422A>C (p.Lys1808Gln) c.5032A>C (p.Lys1678Gln) c.4891A>C (p.Lys1631Gln) c.5323A>C (p.Lys1775Gln) | |
8 | g.41668408C>A | CA371051436 | ANK1 | c.5376G>T (p.Glu1792Asp) c.5472G>T (p.Glu1824Asp) c.5289G>T (p.Glu1763Asp) c.5253G>T (p.Glu1751Asp) c.1267G>T c.825G>T c.2731G>T n.2647G>T c.4767G>T (p.Glu1589Asp) c.5517G>T (p.Glu1839Asp) c.5418G>T (p.Glu1806Asp) c.5352G>T (p.Glu1784Asp) c.5334G>T (p.Glu1778Asp) c.4986G>T (p.Glu1662Asp) c.4866G>T (p.Glu1622Asp) c.*34G>T (n.*34G>T) n.5108G>T c.5493G>T (p.Glu1831Asp) c.5430G>T (p.Glu1810Asp) c.5421G>T (p.Glu1807Asp) c.5031G>T (p.Glu1677Asp) c.4890G>T (p.Glu1630Asp) c.5322G>T (p.Glu1774Asp) | |
8 | g.41668408C= | CA1779071168 | ANK1 | c.5376G= (p.Glu1792=) c.5472G= (p.Glu1824=) c.5289G= (p.Glu1763=) c.5253G= (p.Glu1751=) c.1267G= c.825G= c.2731G= n.2647G= c.4767G= (p.Glu1589=) c.5517G= (p.Glu1839=) c.5418G= (p.Glu1806=) c.5352G= (p.Glu1784=) c.5334G= (p.Glu1778=) c.4986G= (p.Glu1662=) c.4866G= (p.Glu1622=) c.*34G= (n.*34G=) n.5108G= c.5493G= (p.Glu1831=) c.5430G= (p.Glu1810=) c.5421G= (p.Glu1807=) c.5031G= (p.Glu1677=) c.4890G= (p.Glu1630=) c.5322G= (p.Glu1774=) | |
8 | g.41668408C>G | CA4727339 | ANK1 | c.5376G>C (p.Glu1792Asp) c.5472G>C (p.Glu1824Asp) c.5289G>C (p.Glu1763Asp) c.5253G>C (p.Glu1751Asp) c.1267G>C c.825G>C c.2731G>C n.2647G>C c.4767G>C (p.Glu1589Asp) c.5517G>C (p.Glu1839Asp) c.5418G>C (p.Glu1806Asp) c.5352G>C (p.Glu1784Asp) c.5334G>C (p.Glu1778Asp) c.4986G>C (p.Glu1662Asp) c.4866G>C (p.Glu1622Asp) c.*34G>C (n.*34G>C) n.5108G>C c.5493G>C (p.Glu1831Asp) c.5430G>C (p.Glu1810Asp) c.5421G>C (p.Glu1807Asp) c.5031G>C (p.Glu1677Asp) c.4890G>C (p.Glu1630Asp) c.5322G>C (p.Glu1774Asp) | dbSNP ExAC gnomAD v2 |
8 | g.41668408C>T | CA460782044 | ANK1 | c.5376G>A (p.Glu1792=) c.5472G>A (p.Glu1824=) c.5289G>A (p.Glu1763=) c.5253G>A (p.Glu1751=) c.1267G>A c.825G>A c.2731G>A n.2647G>A c.4767G>A (p.Glu1589=) c.5517G>A (p.Glu1839=) c.5418G>A (p.Glu1806=) c.5352G>A (p.Glu1784=) c.5334G>A (p.Glu1778=) c.4986G>A (p.Glu1662=) c.4866G>A (p.Glu1622=) c.*34G>A (n.*34G>A) n.5108G>A c.5493G>A (p.Glu1831=) c.5430G>A (p.Glu1810=) c.5421G>A (p.Glu1807=) c.5031G>A (p.Glu1677=) c.4890G>A (p.Glu1630=) c.5322G>A (p.Glu1774=) | |
8 | g.41668409T>A | CA371051439 | ANK1 | c.5375A>T (p.Glu1792Val) c.5471A>T (p.Glu1824Val) c.5288A>T (p.Glu1763Val) c.5252A>T (p.Glu1751Val) c.1266A>T c.824A>T c.2730A>T n.2646A>T c.4766A>T (p.Glu1589Val) c.5516A>T (p.Glu1839Val) c.5417A>T (p.Glu1806Val) c.5351A>T (p.Glu1784Val) c.5333A>T (p.Glu1778Val) c.4985A>T (p.Glu1662Val) c.4865A>T (p.Glu1622Val) c.*33A>T (n.*33A>T) n.5107A>T c.5492A>T (p.Glu1831Val) c.5429A>T (p.Glu1810Val) c.5420A>T (p.Glu1807Val) c.5030A>T (p.Glu1677Val) c.4889A>T (p.Glu1630Val) c.5321A>T (p.Glu1774Val) | |
8 | g.41668409T>C | CA371051441 | ANK1 | c.5375A>G (p.Glu1792Gly) c.5471A>G (p.Glu1824Gly) c.5288A>G (p.Glu1763Gly) c.5252A>G (p.Glu1751Gly) c.1266A>G c.824A>G c.2730A>G n.2646A>G c.4766A>G (p.Glu1589Gly) c.5516A>G (p.Glu1839Gly) c.5417A>G (p.Glu1806Gly) c.5351A>G (p.Glu1784Gly) c.5333A>G (p.Glu1778Gly) c.4985A>G (p.Glu1662Gly) c.4865A>G (p.Glu1622Gly) c.*33A>G (n.*33A>G) n.5107A>G c.5492A>G (p.Glu1831Gly) c.5429A>G (p.Glu1810Gly) c.5420A>G (p.Glu1807Gly) c.5030A>G (p.Glu1677Gly) c.4889A>G (p.Glu1630Gly) c.5321A>G (p.Glu1774Gly) | |
8 | g.41668409T>G | CA4727340 | ANK1 | c.5375A>C (p.Glu1792Ala) c.5471A>C (p.Glu1824Ala) c.5288A>C (p.Glu1763Ala) c.5252A>C (p.Glu1751Ala) c.1266A>C c.824A>C c.2730A>C n.2646A>C c.4766A>C (p.Glu1589Ala) c.5516A>C (p.Glu1839Ala) c.5417A>C (p.Glu1806Ala) c.5351A>C (p.Glu1784Ala) c.5333A>C (p.Glu1778Ala) c.4985A>C (p.Glu1662Ala) c.4865A>C (p.Glu1622Ala) c.*33A>C (n.*33A>C) n.5107A>C c.5492A>C (p.Glu1831Ala) c.5429A>C (p.Glu1810Ala) c.5420A>C (p.Glu1807Ala) c.5030A>C (p.Glu1677Ala) c.4889A>C (p.Glu1630Ala) c.5321A>C (p.Glu1774Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.41668409T= | CA1779071172 | ANK1 | c.5375A= (p.Glu1792=) c.5471A= (p.Glu1824=) c.5288A= (p.Glu1763=) c.5252A= (p.Glu1751=) c.1266A= c.824A= c.2730A= n.2646A= c.4766A= (p.Glu1589=) c.5516A= (p.Glu1839=) c.5417A= (p.Glu1806=) c.5351A= (p.Glu1784=) c.5333A= (p.Glu1778=) c.4985A= (p.Glu1662=) c.4865A= (p.Glu1622=) c.*33A= (n.*33A=) n.5107A= c.5492A= (p.Glu1831=) c.5429A= (p.Glu1810=) c.5420A= (p.Glu1807=) c.5030A= (p.Glu1677=) c.4889A= (p.Glu1630=) c.5321A= (p.Glu1774=) | |
8 | g.41668410C>A | CA371051447 | ANK1 | c.5374G>T (p.Glu1792Ter) c.5470G>T (p.Glu1824Ter) c.5287G>T (p.Glu1763Ter) c.5251G>T (p.Glu1751Ter) c.1265G>T c.823G>T c.2729G>T n.2645G>T c.4765G>T (p.Glu1589Ter) c.5515G>T (p.Glu1839Ter) c.5416G>T (p.Glu1806Ter) c.5350G>T (p.Glu1784Ter) c.5332G>T (p.Glu1778Ter) c.4984G>T (p.Glu1662Ter) c.4864G>T (p.Glu1622Ter) c.*32G>T (n.*32G>T) n.5106G>T c.5491G>T (p.Glu1831Ter) c.5428G>T (p.Glu1810Ter) c.5419G>T (p.Glu1807Ter) c.5029G>T (p.Glu1677Ter) c.4888G>T (p.Glu1630Ter) c.5320G>T (p.Glu1774Ter) | |
8 | g.41668410C= | CA1779071175 | ANK1 | c.5374G= (p.Glu1792=) c.5470G= (p.Glu1824=) c.5287G= (p.Glu1763=) c.5251G= (p.Glu1751=) c.1265G= c.823G= c.2729G= n.2645G= c.4765G= (p.Glu1589=) c.5515G= (p.Glu1839=) c.5416G= (p.Glu1806=) c.5350G= (p.Glu1784=) c.5332G= (p.Glu1778=) c.4984G= (p.Glu1662=) c.4864G= (p.Glu1622=) c.*32G= (n.*32G=) n.5106G= c.5491G= (p.Glu1831=) c.5428G= (p.Glu1810=) c.5419G= (p.Glu1807=) c.5029G= (p.Glu1677=) c.4888G= (p.Glu1630=) c.5320G= (p.Glu1774=) | |
8 | g.41668410C>G | CA175914316 | ANK1 | c.5374G>C (p.Glu1792Gln) c.5470G>C (p.Glu1824Gln) c.5287G>C (p.Glu1763Gln) c.5251G>C (p.Glu1751Gln) c.1265G>C c.823G>C c.2729G>C n.2645G>C c.4765G>C (p.Glu1589Gln) c.5515G>C (p.Glu1839Gln) c.5416G>C (p.Glu1806Gln) c.5350G>C (p.Glu1784Gln) c.5332G>C (p.Glu1778Gln) c.4984G>C (p.Glu1662Gln) c.4864G>C (p.Glu1622Gln) c.*32G>C (n.*32G>C) n.5106G>C c.5491G>C (p.Glu1831Gln) c.5428G>C (p.Glu1810Gln) c.5419G>C (p.Glu1807Gln) c.5029G>C (p.Glu1677Gln) c.4888G>C (p.Glu1630Gln) c.5320G>C (p.Glu1774Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.41668410C>T | CA4727341 | ANK1 | c.5374G>A (p.Glu1792Lys) c.5470G>A (p.Glu1824Lys) c.5287G>A (p.Glu1763Lys) c.5251G>A (p.Glu1751Lys) c.1265G>A c.823G>A c.2729G>A n.2645G>A c.4765G>A (p.Glu1589Lys) c.5515G>A (p.Glu1839Lys) c.5416G>A (p.Glu1806Lys) c.5350G>A (p.Glu1784Lys) c.5332G>A (p.Glu1778Lys) c.4984G>A (p.Glu1662Lys) c.4864G>A (p.Glu1622Lys) c.*32G>A (n.*32G>A) n.5106G>A c.5491G>A (p.Glu1831Lys) c.5428G>A (p.Glu1810Lys) c.5419G>A (p.Glu1807Lys) c.5029G>A (p.Glu1677Lys) c.4888G>A (p.Glu1630Lys) c.5320G>A (p.Glu1774Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
8 | g.41668411G>A | CA4727342 | ANK1 | c.5373C>T (p.Tyr1791=) c.5469C>T (p.Tyr1823=) c.5286C>T (p.Tyr1762=) c.5250C>T (p.Tyr1750=) c.1264C>T c.822C>T c.2728C>T n.2644C>T c.4764C>T (p.Tyr1588=) c.5514C>T (p.Tyr1838=) c.5415C>T (p.Tyr1805=) c.5349C>T (p.Tyr1783=) c.5331C>T (p.Tyr1777=) c.4983C>T (p.Tyr1661=) c.4863C>T (p.Tyr1621=) c.*31C>T (n.*31C>T) n.5105C>T c.5490C>T (p.Tyr1830=) c.5427C>T (p.Tyr1809=) c.5418C>T (p.Tyr1806=) c.5028C>T (p.Tyr1676=) c.4887C>T (p.Tyr1629=) c.5319C>T (p.Tyr1773=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.41668411G>C | CA371051450 | ANK1 | c.5373C>G (p.Tyr1791Ter) c.5469C>G (p.Tyr1823Ter) c.5286C>G (p.Tyr1762Ter) c.5250C>G (p.Tyr1750Ter) c.1264C>G c.822C>G c.2728C>G n.2644C>G c.4764C>G (p.Tyr1588Ter) c.5514C>G (p.Tyr1838Ter) c.5415C>G (p.Tyr1805Ter) c.5349C>G (p.Tyr1783Ter) c.5331C>G (p.Tyr1777Ter) c.4983C>G (p.Tyr1661Ter) c.4863C>G (p.Tyr1621Ter) c.*31C>G (n.*31C>G) n.5105C>G c.5490C>G (p.Tyr1830Ter) c.5427C>G (p.Tyr1809Ter) c.5418C>G (p.Tyr1806Ter) c.5028C>G (p.Tyr1676Ter) c.4887C>G (p.Tyr1629Ter) c.5319C>G (p.Tyr1773Ter) | |
8 | g.41668411G= | CA1779071183 | ANK1 | c.5373C= (p.Tyr1791=) c.5469C= (p.Tyr1823=) c.5286C= (p.Tyr1762=) c.5250C= (p.Tyr1750=) c.1264C= c.822C= c.2728C= n.2644C= c.4764C= (p.Tyr1588=) c.5514C= (p.Tyr1838=) c.5415C= (p.Tyr1805=) c.5349C= (p.Tyr1783=) c.5331C= (p.Tyr1777=) c.4983C= (p.Tyr1661=) c.4863C= (p.Tyr1621=) c.*31C= (n.*31C=) n.5105C= c.5490C= (p.Tyr1830=) c.5427C= (p.Tyr1809=) c.5418C= (p.Tyr1806=) c.5028C= (p.Tyr1676=) c.4887C= (p.Tyr1629=) c.5319C= (p.Tyr1773=) | |
8 | g.41668411G>T | CA371051452 | ANK1 | c.5373C>A (p.Tyr1791Ter) c.5469C>A (p.Tyr1823Ter) c.5286C>A (p.Tyr1762Ter) c.5250C>A (p.Tyr1750Ter) c.1264C>A c.822C>A c.2728C>A n.2644C>A c.4764C>A (p.Tyr1588Ter) c.5514C>A (p.Tyr1838Ter) c.5415C>A (p.Tyr1805Ter) c.5349C>A (p.Tyr1783Ter) c.5331C>A (p.Tyr1777Ter) c.4983C>A (p.Tyr1661Ter) c.4863C>A (p.Tyr1621Ter) c.*31C>A (n.*31C>A) n.5105C>A c.5490C>A (p.Tyr1830Ter) c.5427C>A (p.Tyr1809Ter) c.5418C>A (p.Tyr1806Ter) c.5028C>A (p.Tyr1676Ter) c.4887C>A (p.Tyr1629Ter) c.5319C>A (p.Tyr1773Ter) | |
8 | g.41668412T>A | CA371051454 | ANK1 | c.5372A>T (p.Tyr1791Phe) c.5468A>T (p.Tyr1823Phe) c.5285A>T (p.Tyr1762Phe) c.5249A>T (p.Tyr1750Phe) c.1263A>T c.821A>T c.2727A>T n.2643A>T c.4763A>T (p.Tyr1588Phe) c.5513A>T (p.Tyr1838Phe) c.5414A>T (p.Tyr1805Phe) c.5348A>T (p.Tyr1783Phe) c.5330A>T (p.Tyr1777Phe) c.4982A>T (p.Tyr1661Phe) c.4862A>T (p.Tyr1621Phe) c.*30A>T (n.*30A>T) n.5104A>T c.5489A>T (p.Tyr1830Phe) c.5426A>T (p.Tyr1809Phe) c.5417A>T (p.Tyr1806Phe) c.5027A>T (p.Tyr1676Phe) c.4886A>T (p.Tyr1629Phe) c.5318A>T (p.Tyr1773Phe) | |
8 | g.41668412T>C | CA371051456 | ANK1 | c.5372A>G (p.Tyr1791Cys) c.5468A>G (p.Tyr1823Cys) c.5285A>G (p.Tyr1762Cys) c.5249A>G (p.Tyr1750Cys) c.1263A>G c.821A>G c.2727A>G n.2643A>G c.4763A>G (p.Tyr1588Cys) c.5513A>G (p.Tyr1838Cys) c.5414A>G (p.Tyr1805Cys) c.5348A>G (p.Tyr1783Cys) c.5330A>G (p.Tyr1777Cys) c.4982A>G (p.Tyr1661Cys) c.4862A>G (p.Tyr1621Cys) c.*30A>G (n.*30A>G) n.5104A>G c.5489A>G (p.Tyr1830Cys) c.5426A>G (p.Tyr1809Cys) c.5417A>G (p.Tyr1806Cys) c.5027A>G (p.Tyr1676Cys) c.4886A>G (p.Tyr1629Cys) c.5318A>G (p.Tyr1773Cys) | |
8 | g.41668412T>G | CA371051459 | ANK1 | c.5372A>C (p.Tyr1791Ser) c.5468A>C (p.Tyr1823Ser) c.5285A>C (p.Tyr1762Ser) c.5249A>C (p.Tyr1750Ser) c.1263A>C c.821A>C c.2727A>C n.2643A>C c.4763A>C (p.Tyr1588Ser) c.5513A>C (p.Tyr1838Ser) c.5414A>C (p.Tyr1805Ser) c.5348A>C (p.Tyr1783Ser) c.5330A>C (p.Tyr1777Ser) c.4982A>C (p.Tyr1661Ser) c.4862A>C (p.Tyr1621Ser) c.*30A>C (n.*30A>C) n.5104A>C c.5489A>C (p.Tyr1830Ser) c.5426A>C (p.Tyr1809Ser) c.5417A>C (p.Tyr1806Ser) c.5027A>C (p.Tyr1676Ser) c.4886A>C (p.Tyr1629Ser) c.5318A>C (p.Tyr1773Ser) | |
8 | g.41668413A>C | CA371051467 | ANK1 | c.5371T>G (p.Tyr1791Asp) c.5467T>G (p.Tyr1823Asp) c.5284T>G (p.Tyr1762Asp) c.5248T>G (p.Tyr1750Asp) c.1262T>G c.820T>G c.2726T>G n.2642T>G c.4762T>G (p.Tyr1588Asp) c.5512T>G (p.Tyr1838Asp) c.5413T>G (p.Tyr1805Asp) c.5347T>G (p.Tyr1783Asp) c.5329T>G (p.Tyr1777Asp) c.4981T>G (p.Tyr1661Asp) c.4861T>G (p.Tyr1621Asp) c.*29T>G (n.*29T>G) n.5103T>G c.5488T>G (p.Tyr1830Asp) c.5425T>G (p.Tyr1809Asp) c.5416T>G (p.Tyr1806Asp) c.5026T>G (p.Tyr1676Asp) c.4885T>G (p.Tyr1629Asp) c.5317T>G (p.Tyr1773Asp) | gnomAD v4 |
8 | g.41668413A>G | CA371051462 | ANK1 | c.5371T>C (p.Tyr1791His) c.5467T>C (p.Tyr1823His) c.5284T>C (p.Tyr1762His) c.5248T>C (p.Tyr1750His) c.1262T>C c.820T>C c.2726T>C n.2642T>C c.4762T>C (p.Tyr1588His) c.5512T>C (p.Tyr1838His) c.5413T>C (p.Tyr1805His) c.5347T>C (p.Tyr1783His) c.5329T>C (p.Tyr1777His) c.4981T>C (p.Tyr1661His) c.4861T>C (p.Tyr1621His) c.*29T>C (n.*29T>C) n.5103T>C c.5488T>C (p.Tyr1830His) c.5425T>C (p.Tyr1809His) c.5416T>C (p.Tyr1806His) c.5026T>C (p.Tyr1676His) c.4885T>C (p.Tyr1629His) c.5317T>C (p.Tyr1773His) | |
8 | g.41668413A>T | CA371051464 | ANK1 | c.5371T>A (p.Tyr1791Asn) c.5467T>A (p.Tyr1823Asn) c.5284T>A (p.Tyr1762Asn) c.5248T>A (p.Tyr1750Asn) c.1262T>A c.820T>A c.2726T>A n.2642T>A c.4762T>A (p.Tyr1588Asn) c.5512T>A (p.Tyr1838Asn) c.5413T>A (p.Tyr1805Asn) c.5347T>A (p.Tyr1783Asn) c.5329T>A (p.Tyr1777Asn) c.4981T>A (p.Tyr1661Asn) c.4861T>A (p.Tyr1621Asn) c.*29T>A (n.*29T>A) n.5103T>A c.5488T>A (p.Tyr1830Asn) c.5425T>A (p.Tyr1809Asn) c.5416T>A (p.Tyr1806Asn) c.5026T>A (p.Tyr1676Asn) c.4885T>A (p.Tyr1629Asn) c.5317T>A (p.Tyr1773Asn) | gnomAD v4 |
8 | g.41668414C>A | CA371051469 | ANK1 | c.5370G>T (p.Glu1790Asp) c.5466G>T (p.Glu1822Asp) c.5283G>T (p.Glu1761Asp) c.5247G>T (p.Glu1749Asp) c.1261G>T c.819G>T c.2725G>T n.2641G>T c.4761G>T (p.Glu1587Asp) c.5511G>T (p.Glu1837Asp) c.5412G>T (p.Glu1804Asp) c.5346G>T (p.Glu1782Asp) c.5328G>T (p.Glu1776Asp) c.4980G>T (p.Glu1660Asp) c.4860G>T (p.Glu1620Asp) c.*28G>T (n.*28G>T) n.5102G>T c.5487G>T (p.Glu1829Asp) c.5424G>T (p.Glu1808Asp) c.5415G>T (p.Glu1805Asp) c.5025G>T (p.Glu1675Asp) c.4884G>T (p.Glu1628Asp) c.5316G>T (p.Glu1772Asp) | |
8 | g.41668414C= | CA1779071186 | ANK1 | c.5370G= (p.Glu1790=) c.5466G= (p.Glu1822=) c.5283G= (p.Glu1761=) c.5247G= (p.Glu1749=) c.1261G= c.819G= c.2725G= n.2641G= c.4761G= (p.Glu1587=) c.5511G= (p.Glu1837=) c.5412G= (p.Glu1804=) c.5346G= (p.Glu1782=) c.5328G= (p.Glu1776=) c.4980G= (p.Glu1660=) c.4860G= (p.Glu1620=) c.*28G= (n.*28G=) n.5102G= c.5487G= (p.Glu1829=) c.5424G= (p.Glu1808=) c.5415G= (p.Glu1805=) c.5025G= (p.Glu1675=) c.4884G= (p.Glu1628=) c.5316G= (p.Glu1772=) | |
8 | g.41668414C>G | CA371051471 | ANK1 | c.5370G>C (p.Glu1790Asp) c.5466G>C (p.Glu1822Asp) c.5283G>C (p.Glu1761Asp) c.5247G>C (p.Glu1749Asp) c.1261G>C c.819G>C c.2725G>C n.2641G>C c.4761G>C (p.Glu1587Asp) c.5511G>C (p.Glu1837Asp) c.5412G>C (p.Glu1804Asp) c.5346G>C (p.Glu1782Asp) c.5328G>C (p.Glu1776Asp) c.4980G>C (p.Glu1660Asp) c.4860G>C (p.Glu1620Asp) c.*28G>C (n.*28G>C) n.5102G>C c.5487G>C (p.Glu1829Asp) c.5424G>C (p.Glu1808Asp) c.5415G>C (p.Glu1805Asp) c.5025G>C (p.Glu1675Asp) c.4884G>C (p.Glu1628Asp) c.5316G>C (p.Glu1772Asp) | |
8 | g.41668414C>T | CA460782045 | ANK1 | c.5370G>A (p.Glu1790=) c.5466G>A (p.Glu1822=) c.5283G>A (p.Glu1761=) c.5247G>A (p.Glu1749=) c.1261G>A c.819G>A c.2725G>A n.2641G>A c.4761G>A (p.Glu1587=) c.5511G>A (p.Glu1837=) c.5412G>A (p.Glu1804=) c.5346G>A (p.Glu1782=) c.5328G>A (p.Glu1776=) c.4980G>A (p.Glu1660=) c.4860G>A (p.Glu1620=) c.*28G>A (n.*28G>A) n.5102G>A c.5487G>A (p.Glu1829=) c.5424G>A (p.Glu1808=) c.5415G>A (p.Glu1805=) c.5025G>A (p.Glu1675=) c.4884G>A (p.Glu1628=) c.5316G>A (p.Glu1772=) | dbSNP |
8 | g.41668415T>A | CA371051474 | ANK1 | c.5369A>T (p.Glu1790Val) c.5465A>T (p.Glu1822Val) c.5282A>T (p.Glu1761Val) c.5246A>T (p.Glu1749Val) c.1260A>T c.818A>T c.2724A>T n.2640A>T c.4760A>T (p.Glu1587Val) c.5510A>T (p.Glu1837Val) c.5411A>T (p.Glu1804Val) c.5345A>T (p.Glu1782Val) c.5327A>T (p.Glu1776Val) c.4979A>T (p.Glu1660Val) c.4859A>T (p.Glu1620Val) c.*27A>T (n.*27A>T) n.5101A>T c.5486A>T (p.Glu1829Val) c.5423A>T (p.Glu1808Val) c.5414A>T (p.Glu1805Val) c.5024A>T (p.Glu1675Val) c.4883A>T (p.Glu1628Val) c.5315A>T (p.Glu1772Val) | |
8 | g.41668415T>C | CA371051475 | ANK1 | c.5369A>G (p.Glu1790Gly) c.5465A>G (p.Glu1822Gly) c.5282A>G (p.Glu1761Gly) c.5246A>G (p.Glu1749Gly) c.1260A>G c.818A>G c.2724A>G n.2640A>G c.4760A>G (p.Glu1587Gly) c.5510A>G (p.Glu1837Gly) c.5411A>G (p.Glu1804Gly) c.5345A>G (p.Glu1782Gly) c.5327A>G (p.Glu1776Gly) c.4979A>G (p.Glu1660Gly) c.4859A>G (p.Glu1620Gly) c.*27A>G (n.*27A>G) n.5101A>G c.5486A>G (p.Glu1829Gly) c.5423A>G (p.Glu1808Gly) c.5414A>G (p.Glu1805Gly) c.5024A>G (p.Glu1675Gly) c.4883A>G (p.Glu1628Gly) c.5315A>G (p.Glu1772Gly) | |
8 | g.41668415T>G | CA371051477 | ANK1 | c.5369A>C (p.Glu1790Ala) c.5465A>C (p.Glu1822Ala) c.5282A>C (p.Glu1761Ala) c.5246A>C (p.Glu1749Ala) c.1260A>C c.818A>C c.2724A>C n.2640A>C c.4760A>C (p.Glu1587Ala) c.5510A>C (p.Glu1837Ala) c.5411A>C (p.Glu1804Ala) c.5345A>C (p.Glu1782Ala) c.5327A>C (p.Glu1776Ala) c.4979A>C (p.Glu1660Ala) c.4859A>C (p.Glu1620Ala) c.*27A>C (n.*27A>C) n.5101A>C c.5486A>C (p.Glu1829Ala) c.5423A>C (p.Glu1808Ala) c.5414A>C (p.Glu1805Ala) c.5024A>C (p.Glu1675Ala) c.4883A>C (p.Glu1628Ala) c.5315A>C (p.Glu1772Ala) | |
8 | g.41668416C>A | CA371051479 | ANK1 | c.5368G>T (p.Glu1790Ter) c.5464G>T (p.Glu1822Ter) c.5281G>T (p.Glu1761Ter) c.5245G>T (p.Glu1749Ter) c.1259G>T c.817G>T c.2723G>T n.2639G>T c.4759G>T (p.Glu1587Ter) c.5509G>T (p.Glu1837Ter) c.5410G>T (p.Glu1804Ter) c.5344G>T (p.Glu1782Ter) c.5326G>T (p.Glu1776Ter) c.4978G>T (p.Glu1660Ter) c.4858G>T (p.Glu1620Ter) c.*26G>T (n.*26G>T) n.5100G>T c.5485G>T (p.Glu1829Ter) c.5422G>T (p.Glu1808Ter) c.5413G>T (p.Glu1805Ter) c.5023G>T (p.Glu1675Ter) c.4882G>T (p.Glu1628Ter) c.5314G>T (p.Glu1772Ter) | |
8 | g.41668416C>G | CA371051480 | ANK1 | c.5368G>C (p.Glu1790Gln) c.5464G>C (p.Glu1822Gln) c.5281G>C (p.Glu1761Gln) c.5245G>C (p.Glu1749Gln) c.1259G>C c.817G>C c.2723G>C n.2639G>C c.4759G>C (p.Glu1587Gln) c.5509G>C (p.Glu1837Gln) c.5410G>C (p.Glu1804Gln) c.5344G>C (p.Glu1782Gln) c.5326G>C (p.Glu1776Gln) c.4978G>C (p.Glu1660Gln) c.4858G>C (p.Glu1620Gln) c.*26G>C (n.*26G>C) n.5100G>C c.5485G>C (p.Glu1829Gln) c.5422G>C (p.Glu1808Gln) c.5413G>C (p.Glu1805Gln) c.5023G>C (p.Glu1675Gln) c.4882G>C (p.Glu1628Gln) c.5314G>C (p.Glu1772Gln) | COSMIC COSMIC |
8 | g.41668416C>T | CA371051482 | ANK1 | c.5368G>A (p.Glu1790Lys) c.5464G>A (p.Glu1822Lys) c.5281G>A (p.Glu1761Lys) c.5245G>A (p.Glu1749Lys) c.1259G>A c.817G>A c.2723G>A n.2639G>A c.4759G>A (p.Glu1587Lys) c.5509G>A (p.Glu1837Lys) c.5410G>A (p.Glu1804Lys) c.5344G>A (p.Glu1782Lys) c.5326G>A (p.Glu1776Lys) c.4978G>A (p.Glu1660Lys) c.4858G>A (p.Glu1620Lys) c.*26G>A (n.*26G>A) n.5100G>A c.5485G>A (p.Glu1829Lys) c.5422G>A (p.Glu1808Lys) c.5413G>A (p.Glu1805Lys) c.5023G>A (p.Glu1675Lys) c.4882G>A (p.Glu1628Lys) c.5314G>A (p.Glu1772Lys) | |
8 | g.41668417C>A | CA371051485 | ANK1 | c.5367G>T (p.Gln1789His) c.5463G>T (p.Gln1821His) c.5280G>T (p.Gln1760His) c.5244G>T (p.Gln1748His) c.1258G>T c.816G>T c.2722G>T n.2638G>T c.4758G>T (p.Gln1586His) c.5508G>T (p.Gln1836His) c.5409G>T (p.Gln1803His) c.5343G>T (p.Gln1781His) c.5325G>T (p.Gln1775His) c.4977G>T (p.Gln1659His) c.4857G>T (p.Gln1619His) c.*25G>T (n.*25G>T) n.5099G>T c.5484G>T (p.Gln1828His) c.5421G>T (p.Gln1807His) c.5412G>T (p.Gln1804His) c.5022G>T (p.Gln1674His) c.4881G>T (p.Gln1627His) c.5313G>T (p.Gln1771His) | |
8 | g.41668417C>G | CA371051486 | ANK1 | c.5367G>C (p.Gln1789His) c.5463G>C (p.Gln1821His) c.5280G>C (p.Gln1760His) c.5244G>C (p.Gln1748His) c.1258G>C c.816G>C c.2722G>C n.2638G>C c.4758G>C (p.Gln1586His) c.5508G>C (p.Gln1836His) c.5409G>C (p.Gln1803His) c.5343G>C (p.Gln1781His) c.5325G>C (p.Gln1775His) c.4977G>C (p.Gln1659His) c.4857G>C (p.Gln1619His) c.*25G>C (n.*25G>C) n.5099G>C c.5484G>C (p.Gln1828His) c.5421G>C (p.Gln1807His) c.5412G>C (p.Gln1804His) c.5022G>C (p.Gln1674His) c.4881G>C (p.Gln1627His) c.5313G>C (p.Gln1771His) | |
8 | g.41668417C>T | CA460782046 | ANK1 | c.5367G>A (p.Gln1789=) c.5463G>A (p.Gln1821=) c.5280G>A (p.Gln1760=) c.5244G>A (p.Gln1748=) c.1258G>A c.816G>A c.2722G>A n.2638G>A c.4758G>A (p.Gln1586=) c.5508G>A (p.Gln1836=) c.5409G>A (p.Gln1803=) c.5343G>A (p.Gln1781=) c.5325G>A (p.Gln1775=) c.4977G>A (p.Gln1659=) c.4857G>A (p.Gln1619=) c.*25G>A (n.*25G>A) n.5099G>A c.5484G>A (p.Gln1828=) c.5421G>A (p.Gln1807=) c.5412G>A (p.Gln1804=) c.5022G>A (p.Gln1674=) c.4881G>A (p.Gln1627=) c.5313G>A (p.Gln1771=) | |
8 | g.41668418T>A | CA371051487 | ANK1 | c.5366A>T (p.Gln1789Leu) c.5462A>T (p.Gln1821Leu) c.5279A>T (p.Gln1760Leu) c.5243A>T (p.Gln1748Leu) c.1257A>T c.815A>T c.2721A>T n.2637A>T c.4757A>T (p.Gln1586Leu) c.5507A>T (p.Gln1836Leu) c.5408A>T (p.Gln1803Leu) c.5342A>T (p.Gln1781Leu) c.5324A>T (p.Gln1775Leu) c.4976A>T (p.Gln1659Leu) c.4856A>T (p.Gln1619Leu) c.*24A>T (n.*24A>T) n.5098A>T c.5483A>T (p.Gln1828Leu) c.5420A>T (p.Gln1807Leu) c.5411A>T (p.Gln1804Leu) c.5021A>T (p.Gln1674Leu) c.4880A>T (p.Gln1627Leu) c.5312A>T (p.Gln1771Leu) | |
8 | g.41668418T>C | CA371051490 | ANK1 | c.5366A>G (p.Gln1789Arg) c.5462A>G (p.Gln1821Arg) c.5279A>G (p.Gln1760Arg) c.5243A>G (p.Gln1748Arg) c.1257A>G c.815A>G c.2721A>G n.2637A>G c.4757A>G (p.Gln1586Arg) c.5507A>G (p.Gln1836Arg) c.5408A>G (p.Gln1803Arg) c.5342A>G (p.Gln1781Arg) c.5324A>G (p.Gln1775Arg) c.4976A>G (p.Gln1659Arg) c.4856A>G (p.Gln1619Arg) c.*24A>G (n.*24A>G) n.5098A>G c.5483A>G (p.Gln1828Arg) c.5420A>G (p.Gln1807Arg) c.5411A>G (p.Gln1804Arg) c.5021A>G (p.Gln1674Arg) c.4880A>G (p.Gln1627Arg) c.5312A>G (p.Gln1771Arg) | |
8 | g.41668418T>G | CA371051492 | ANK1 | c.5366A>C (p.Gln1789Pro) c.5462A>C (p.Gln1821Pro) c.5279A>C (p.Gln1760Pro) c.5243A>C (p.Gln1748Pro) c.1257A>C c.815A>C c.2721A>C n.2637A>C c.4757A>C (p.Gln1586Pro) c.5507A>C (p.Gln1836Pro) c.5408A>C (p.Gln1803Pro) c.5342A>C (p.Gln1781Pro) c.5324A>C (p.Gln1775Pro) c.4976A>C (p.Gln1659Pro) c.4856A>C (p.Gln1619Pro) c.*24A>C (n.*24A>C) n.5098A>C c.5483A>C (p.Gln1828Pro) c.5420A>C (p.Gln1807Pro) c.5411A>C (p.Gln1804Pro) c.5021A>C (p.Gln1674Pro) c.4880A>C (p.Gln1627Pro) c.5312A>C (p.Gln1771Pro) | gnomAD v4 |
8 | g.41668419G>A | CA371051494 | ANK1 | c.5365C>T (p.Gln1789Ter) c.5461C>T (p.Gln1821Ter) c.5278C>T (p.Gln1760Ter) c.5242C>T (p.Gln1748Ter) c.1256C>T c.814C>T c.2720C>T n.2636C>T c.4756C>T (p.Gln1586Ter) c.5506C>T (p.Gln1836Ter) c.5407C>T (p.Gln1803Ter) c.5341C>T (p.Gln1781Ter) c.5323C>T (p.Gln1775Ter) c.4975C>T (p.Gln1659Ter) c.4855C>T (p.Gln1619Ter) c.*23C>T (n.*23C>T) n.5097C>T c.5482C>T (p.Gln1828Ter) c.5419C>T (p.Gln1807Ter) c.5410C>T (p.Gln1804Ter) c.5020C>T (p.Gln1674Ter) c.4879C>T (p.Gln1627Ter) c.5311C>T (p.Gln1771Ter) | |
8 | g.41668419G>C | CA371051497 | ANK1 | c.5365C>G (p.Gln1789Glu) c.5461C>G (p.Gln1821Glu) c.5278C>G (p.Gln1760Glu) c.5242C>G (p.Gln1748Glu) c.1256C>G c.814C>G c.2720C>G n.2636C>G c.4756C>G (p.Gln1586Glu) c.5506C>G (p.Gln1836Glu) c.5407C>G (p.Gln1803Glu) c.5341C>G (p.Gln1781Glu) c.5323C>G (p.Gln1775Glu) c.4975C>G (p.Gln1659Glu) c.4855C>G (p.Gln1619Glu) c.*23C>G (n.*23C>G) n.5097C>G c.5482C>G (p.Gln1828Glu) c.5419C>G (p.Gln1807Glu) c.5410C>G (p.Gln1804Glu) c.5020C>G (p.Gln1674Glu) c.4879C>G (p.Gln1627Glu) c.5311C>G (p.Gln1771Glu) | gnomAD v4 |
8 | g.41668419G>T | CA371051495 | ANK1 | c.5365C>A (p.Gln1789Lys) c.5461C>A (p.Gln1821Lys) c.5278C>A (p.Gln1760Lys) c.5242C>A (p.Gln1748Lys) c.1256C>A c.814C>A c.2720C>A n.2636C>A c.4756C>A (p.Gln1586Lys) c.5506C>A (p.Gln1836Lys) c.5407C>A (p.Gln1803Lys) c.5341C>A (p.Gln1781Lys) c.5323C>A (p.Gln1775Lys) c.4975C>A (p.Gln1659Lys) c.4855C>A (p.Gln1619Lys) c.*23C>A (n.*23C>A) n.5097C>A c.5482C>A (p.Gln1828Lys) c.5419C>A (p.Gln1807Lys) c.5410C>A (p.Gln1804Lys) c.5020C>A (p.Gln1674Lys) c.4879C>A (p.Gln1627Lys) c.5311C>A (p.Gln1771Lys) | COSMIC COSMIC |
8 | g.41668420A>C | CA460782047 | ANK1 | c.5364T>G (p.Ser1788=) c.5460T>G (p.Ser1820=) c.5277T>G (p.Ser1759=) c.5241T>G (p.Ser1747=) c.1255T>G c.813T>G c.2719T>G n.2635T>G c.4755T>G (p.Ser1585=) c.5505T>G (p.Ser1835=) c.5406T>G (p.Ser1802=) c.5340T>G (p.Ser1780=) c.5322T>G (p.Ser1774=) c.4974T>G (p.Ser1658=) c.4854T>G (p.Ser1618=) c.*22T>G (n.*22T>G) n.5096T>G c.5481T>G (p.Ser1827=) c.5418T>G (p.Ser1806=) c.5409T>G (p.Ser1803=) c.5019T>G (p.Ser1673=) c.4878T>G (p.Ser1626=) c.5310T>G (p.Ser1770=) | |
8 | g.41668420A>G | CA460782048 | ANK1 | c.5364T>C (p.Ser1788=) c.5460T>C (p.Ser1820=) c.5277T>C (p.Ser1759=) c.5241T>C (p.Ser1747=) c.1255T>C c.813T>C c.2719T>C n.2635T>C c.4755T>C (p.Ser1585=) c.5505T>C (p.Ser1835=) c.5406T>C (p.Ser1802=) c.5340T>C (p.Ser1780=) c.5322T>C (p.Ser1774=) c.4974T>C (p.Ser1658=) c.4854T>C (p.Ser1618=) c.*22T>C (n.*22T>C) n.5096T>C c.5481T>C (p.Ser1827=) c.5418T>C (p.Ser1806=) c.5409T>C (p.Ser1803=) c.5019T>C (p.Ser1673=) c.4878T>C (p.Ser1626=) c.5310T>C (p.Ser1770=) | |
8 | g.41668420A>T | CA460782049 | ANK1 | c.5364T>A (p.Ser1788=) c.5460T>A (p.Ser1820=) c.5277T>A (p.Ser1759=) c.5241T>A (p.Ser1747=) c.1255T>A c.813T>A c.2719T>A n.2635T>A c.4755T>A (p.Ser1585=) c.5505T>A (p.Ser1835=) c.5406T>A (p.Ser1802=) c.5340T>A (p.Ser1780=) c.5322T>A (p.Ser1774=) c.4974T>A (p.Ser1658=) c.4854T>A (p.Ser1618=) c.*22T>A (n.*22T>A) n.5096T>A c.5481T>A (p.Ser1827=) c.5418T>A (p.Ser1806=) c.5409T>A (p.Ser1803=) c.5019T>A (p.Ser1673=) c.4878T>A (p.Ser1626=) c.5310T>A (p.Ser1770=) | |
8 | g.41668421G>A | CA371051499 | ANK1 | c.5363C>T (p.Ser1788Phe) c.5459C>T (p.Ser1820Phe) c.5276C>T (p.Ser1759Phe) c.5240C>T (p.Ser1747Phe) c.1254C>T c.812C>T c.2718C>T n.2634C>T c.4754C>T (p.Ser1585Phe) c.5504C>T (p.Ser1835Phe) c.5405C>T (p.Ser1802Phe) c.5339C>T (p.Ser1780Phe) c.5321C>T (p.Ser1774Phe) c.4973C>T (p.Ser1658Phe) c.4853C>T (p.Ser1618Phe) c.*21C>T (n.*21C>T) n.5095C>T c.5480C>T (p.Ser1827Phe) c.5417C>T (p.Ser1806Phe) c.5408C>T (p.Ser1803Phe) c.5018C>T (p.Ser1673Phe) c.4877C>T (p.Ser1626Phe) c.5309C>T (p.Ser1770Phe) | |
8 | g.41668421G>C | CA4727343 | ANK1 | c.5363C>G (p.Ser1788Cys) c.5459C>G (p.Ser1820Cys) c.5276C>G (p.Ser1759Cys) c.5240C>G (p.Ser1747Cys) c.1254C>G c.812C>G c.2718C>G n.2634C>G c.4754C>G (p.Ser1585Cys) c.5504C>G (p.Ser1835Cys) c.5405C>G (p.Ser1802Cys) c.5339C>G (p.Ser1780Cys) c.5321C>G (p.Ser1774Cys) c.4973C>G (p.Ser1658Cys) c.4853C>G (p.Ser1618Cys) c.*21C>G (n.*21C>G) n.5095C>G c.5480C>G (p.Ser1827Cys) c.5417C>G (p.Ser1806Cys) c.5408C>G (p.Ser1803Cys) c.5018C>G (p.Ser1673Cys) c.4877C>G (p.Ser1626Cys) c.5309C>G (p.Ser1770Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.41668421G= | CA1779071190 | ANK1 | c.5363C= (p.Ser1788=) c.5459C= (p.Ser1820=) c.5276C= (p.Ser1759=) c.5240C= (p.Ser1747=) c.1254C= c.812C= c.2718C= n.2634C= c.4754C= (p.Ser1585=) c.5504C= (p.Ser1835=) c.5405C= (p.Ser1802=) c.5339C= (p.Ser1780=) c.5321C= (p.Ser1774=) c.4973C= (p.Ser1658=) c.4853C= (p.Ser1618=) c.*21C= (n.*21C=) n.5095C= c.5480C= (p.Ser1827=) c.5417C= (p.Ser1806=) c.5408C= (p.Ser1803=) c.5018C= (p.Ser1673=) c.4877C= (p.Ser1626=) c.5309C= (p.Ser1770=) | |
8 | g.41668421G>T | CA371051502 | ANK1 | c.5363C>A (p.Ser1788Tyr) c.5459C>A (p.Ser1820Tyr) c.5276C>A (p.Ser1759Tyr) c.5240C>A (p.Ser1747Tyr) c.1254C>A c.812C>A c.2718C>A n.2634C>A c.4754C>A (p.Ser1585Tyr) c.5504C>A (p.Ser1835Tyr) c.5405C>A (p.Ser1802Tyr) c.5339C>A (p.Ser1780Tyr) c.5321C>A (p.Ser1774Tyr) c.4973C>A (p.Ser1658Tyr) c.4853C>A (p.Ser1618Tyr) c.*21C>A (n.*21C>A) n.5095C>A c.5480C>A (p.Ser1827Tyr) c.5417C>A (p.Ser1806Tyr) c.5408C>A (p.Ser1803Tyr) c.5018C>A (p.Ser1673Tyr) c.4877C>A (p.Ser1626Tyr) c.5309C>A (p.Ser1770Tyr) | |
8 | g.41668422A>C | CA371051505 | ANK1 | c.5362T>G (p.Ser1788Ala) c.5458T>G (p.Ser1820Ala) c.5275T>G (p.Ser1759Ala) c.5239T>G (p.Ser1747Ala) c.1253T>G c.811T>G c.2717T>G n.2633T>G c.4753T>G (p.Ser1585Ala) c.5503T>G (p.Ser1835Ala) c.5404T>G (p.Ser1802Ala) c.5338T>G (p.Ser1780Ala) c.5320T>G (p.Ser1774Ala) c.4972T>G (p.Ser1658Ala) c.4852T>G (p.Ser1618Ala) c.*20T>G (n.*20T>G) n.5094T>G c.5479T>G (p.Ser1827Ala) c.5416T>G (p.Ser1806Ala) c.5407T>G (p.Ser1803Ala) c.5017T>G (p.Ser1673Ala) c.4876T>G (p.Ser1626Ala) c.5308T>G (p.Ser1770Ala) | |
8 | g.41668422A>G | CA371051507 | ANK1 | c.5362T>C (p.Ser1788Pro) c.5458T>C (p.Ser1820Pro) c.5275T>C (p.Ser1759Pro) c.5239T>C (p.Ser1747Pro) c.1253T>C c.811T>C c.2717T>C n.2633T>C c.4753T>C (p.Ser1585Pro) c.5503T>C (p.Ser1835Pro) c.5404T>C (p.Ser1802Pro) c.5338T>C (p.Ser1780Pro) c.5320T>C (p.Ser1774Pro) c.4972T>C (p.Ser1658Pro) c.4852T>C (p.Ser1618Pro) c.*20T>C (n.*20T>C) n.5094T>C c.5479T>C (p.Ser1827Pro) c.5416T>C (p.Ser1806Pro) c.5407T>C (p.Ser1803Pro) c.5017T>C (p.Ser1673Pro) c.4876T>C (p.Ser1626Pro) c.5308T>C (p.Ser1770Pro) | |
8 | g.41668422A>T | CA371051509 | ANK1 | c.5362T>A (p.Ser1788Thr) c.5458T>A (p.Ser1820Thr) c.5275T>A (p.Ser1759Thr) c.5239T>A (p.Ser1747Thr) c.1253T>A c.811T>A c.2717T>A n.2633T>A c.4753T>A (p.Ser1585Thr) c.5503T>A (p.Ser1835Thr) c.5404T>A (p.Ser1802Thr) c.5338T>A (p.Ser1780Thr) c.5320T>A (p.Ser1774Thr) c.4972T>A (p.Ser1658Thr) c.4852T>A (p.Ser1618Thr) c.*20T>A (n.*20T>A) n.5094T>A c.5479T>A (p.Ser1827Thr) c.5416T>A (p.Ser1806Thr) c.5407T>A (p.Ser1803Thr) c.5017T>A (p.Ser1673Thr) c.4876T>A (p.Ser1626Thr) c.5308T>A (p.Ser1770Thr) | |
8 | g.41668423T>A | CA460782050 | ANK1 | c.5361A>T (p.Gly1787=) c.5457A>T (p.Gly1819=) c.5274A>T (p.Gly1758=) c.5238A>T (p.Gly1746=) c.1252A>T c.810A>T c.2716A>T n.2632A>T c.4752A>T (p.Gly1584=) c.5502A>T (p.Gly1834=) c.5403A>T (p.Gly1801=) c.5337A>T (p.Gly1779=) c.5319A>T (p.Gly1773=) c.4971A>T (p.Gly1657=) c.4851A>T (p.Gly1617=) c.*19A>T (n.*19A>T) n.5093A>T c.5478A>T (p.Gly1826=) c.5415A>T (p.Gly1805=) c.5406A>T (p.Gly1802=) c.5016A>T (p.Gly1672=) c.4875A>T (p.Gly1625=) c.5307A>T (p.Gly1769=) | |
8 | g.41668423T>C | CA460782051 | ANK1 | c.5361A>G (p.Gly1787=) c.5457A>G (p.Gly1819=) c.5274A>G (p.Gly1758=) c.5238A>G (p.Gly1746=) c.1252A>G c.810A>G c.2716A>G n.2632A>G c.4752A>G (p.Gly1584=) c.5502A>G (p.Gly1834=) c.5403A>G (p.Gly1801=) c.5337A>G (p.Gly1779=) c.5319A>G (p.Gly1773=) c.4971A>G (p.Gly1657=) c.4851A>G (p.Gly1617=) c.*19A>G (n.*19A>G) n.5093A>G c.5478A>G (p.Gly1826=) c.5415A>G (p.Gly1805=) c.5406A>G (p.Gly1802=) c.5016A>G (p.Gly1672=) c.4875A>G (p.Gly1625=) c.5307A>G (p.Gly1769=) | gnomAD v4 |
8 | g.41668423T>G | CA460782052 | ANK1 | c.5361A>C (p.Gly1787=) c.5457A>C (p.Gly1819=) c.5274A>C (p.Gly1758=) c.5238A>C (p.Gly1746=) c.1252A>C c.810A>C c.2716A>C n.2632A>C c.4752A>C (p.Gly1584=) c.5502A>C (p.Gly1834=) c.5403A>C (p.Gly1801=) c.5337A>C (p.Gly1779=) c.5319A>C (p.Gly1773=) c.4971A>C (p.Gly1657=) c.4851A>C (p.Gly1617=) c.*19A>C (n.*19A>C) n.5093A>C c.5478A>C (p.Gly1826=) c.5415A>C (p.Gly1805=) c.5406A>C (p.Gly1802=) c.5016A>C (p.Gly1672=) c.4875A>C (p.Gly1625=) c.5307A>C (p.Gly1769=) | |
8 | g.41668424C>A | CA371051512 | ANK1 | c.5360G>T (p.Gly1787Val) c.5456G>T (p.Gly1819Val) c.5273G>T (p.Gly1758Val) c.5237G>T (p.Gly1746Val) c.1251G>T c.809G>T c.2715G>T n.2631G>T c.4751G>T (p.Gly1584Val) c.5501G>T (p.Gly1834Val) c.5402G>T (p.Gly1801Val) c.5336G>T (p.Gly1779Val) c.5318G>T (p.Gly1773Val) c.4970G>T (p.Gly1657Val) c.4850G>T (p.Gly1617Val) c.*18G>T (n.*18G>T) n.5092G>T c.5477G>T (p.Gly1826Val) c.5414G>T (p.Gly1805Val) c.5405G>T (p.Gly1802Val) c.5015G>T (p.Gly1672Val) c.4874G>T (p.Gly1625Val) c.5306G>T (p.Gly1769Val) | gnomAD v4 |
8 | g.41668424C>G | CA371051513 | ANK1 | c.5360G>C (p.Gly1787Ala) c.5456G>C (p.Gly1819Ala) c.5273G>C (p.Gly1758Ala) c.5237G>C (p.Gly1746Ala) c.1251G>C c.809G>C c.2715G>C n.2631G>C c.4751G>C (p.Gly1584Ala) c.5501G>C (p.Gly1834Ala) c.5402G>C (p.Gly1801Ala) c.5336G>C (p.Gly1779Ala) c.5318G>C (p.Gly1773Ala) c.4970G>C (p.Gly1657Ala) c.4850G>C (p.Gly1617Ala) c.*18G>C (n.*18G>C) n.5092G>C c.5477G>C (p.Gly1826Ala) c.5414G>C (p.Gly1805Ala) c.5405G>C (p.Gly1802Ala) c.5015G>C (p.Gly1672Ala) c.4874G>C (p.Gly1625Ala) c.5306G>C (p.Gly1769Ala) | |
8 | g.41668424C>T | CA371051515 | ANK1 | c.5360G>A (p.Gly1787Glu) c.5456G>A (p.Gly1819Glu) c.5273G>A (p.Gly1758Glu) c.5237G>A (p.Gly1746Glu) c.1251G>A c.809G>A c.2715G>A n.2631G>A c.4751G>A (p.Gly1584Glu) c.5501G>A (p.Gly1834Glu) c.5402G>A (p.Gly1801Glu) c.5336G>A (p.Gly1779Glu) c.5318G>A (p.Gly1773Glu) c.4970G>A (p.Gly1657Glu) c.4850G>A (p.Gly1617Glu) c.*18G>A (n.*18G>A) n.5092G>A c.5477G>A (p.Gly1826Glu) c.5414G>A (p.Gly1805Glu) c.5405G>A (p.Gly1802Glu) c.5015G>A (p.Gly1672Glu) c.4874G>A (p.Gly1625Glu) c.5306G>A (p.Gly1769Glu) | |
8 | g.41668425C>A | CA371051517 | ANK1 | c.5359G>T (p.Gly1787Ter) c.5455G>T (p.Gly1819Ter) c.5272G>T (p.Gly1758Ter) c.5236G>T (p.Gly1746Ter) c.1250G>T c.808G>T c.2714G>T n.2630G>T c.4750G>T (p.Gly1584Ter) c.5500G>T (p.Gly1834Ter) c.5401G>T (p.Gly1801Ter) c.5335G>T (p.Gly1779Ter) c.5317G>T (p.Gly1773Ter) c.4969G>T (p.Gly1657Ter) c.4849G>T (p.Gly1617Ter) c.*17G>T (n.*17G>T) n.5091G>T c.5476G>T (p.Gly1826Ter) c.5413G>T (p.Gly1805Ter) c.5404G>T (p.Gly1802Ter) c.5014G>T (p.Gly1672Ter) c.4873G>T (p.Gly1625Ter) c.5305G>T (p.Gly1769Ter) | |
8 | g.41668425C>G | CA371051518 | ANK1 | c.5359G>C (p.Gly1787Arg) c.5455G>C (p.Gly1819Arg) c.5272G>C (p.Gly1758Arg) c.5236G>C (p.Gly1746Arg) c.1250G>C c.808G>C c.2714G>C n.2630G>C c.4750G>C (p.Gly1584Arg) c.5500G>C (p.Gly1834Arg) c.5401G>C (p.Gly1801Arg) c.5335G>C (p.Gly1779Arg) c.5317G>C (p.Gly1773Arg) c.4969G>C (p.Gly1657Arg) c.4849G>C (p.Gly1617Arg) c.*17G>C (n.*17G>C) n.5091G>C c.5476G>C (p.Gly1826Arg) c.5413G>C (p.Gly1805Arg) c.5404G>C (p.Gly1802Arg) c.5014G>C (p.Gly1672Arg) c.4873G>C (p.Gly1625Arg) c.5305G>C (p.Gly1769Arg) | |
8 | g.41668425C>T | CA371051520 | ANK1 | c.5359G>A (p.Gly1787Arg) c.5455G>A (p.Gly1819Arg) c.5272G>A (p.Gly1758Arg) c.5236G>A (p.Gly1746Arg) c.1250G>A c.808G>A c.2714G>A n.2630G>A c.4750G>A (p.Gly1584Arg) c.5500G>A (p.Gly1834Arg) c.5401G>A (p.Gly1801Arg) c.5335G>A (p.Gly1779Arg) c.5317G>A (p.Gly1773Arg) c.4969G>A (p.Gly1657Arg) c.4849G>A (p.Gly1617Arg) c.*17G>A (n.*17G>A) n.5091G>A c.5476G>A (p.Gly1826Arg) c.5413G>A (p.Gly1805Arg) c.5404G>A (p.Gly1802Arg) c.5014G>A (p.Gly1672Arg) c.4873G>A (p.Gly1625Arg) c.5305G>A (p.Gly1769Arg) | |
8 | g.41668426A>C | CA460782054 | ANK1 | c.5358T>G (p.Gly1786=) c.5454T>G (p.Gly1818=) c.5271T>G (p.Gly1757=) c.5235T>G (p.Gly1745=) c.1249T>G c.807T>G c.2713T>G n.2629T>G c.4749T>G (p.Gly1583=) c.5499T>G (p.Gly1833=) c.5400T>G (p.Gly1800=) c.5334T>G (p.Gly1778=) c.5316T>G (p.Gly1772=) c.4968T>G (p.Gly1656=) c.4848T>G (p.Gly1616=) c.*16T>G (n.*16T>G) n.5090T>G c.5475T>G (p.Gly1825=) c.5412T>G (p.Gly1804=) c.5403T>G (p.Gly1801=) c.5013T>G (p.Gly1671=) c.4872T>G (p.Gly1624=) c.5304T>G (p.Gly1768=) | |
8 | g.41668426A>G | CA460782055 | ANK1 | c.5358T>C (p.Gly1786=) c.5454T>C (p.Gly1818=) c.5271T>C (p.Gly1757=) c.5235T>C (p.Gly1745=) c.1249T>C c.807T>C c.2713T>C n.2629T>C c.4749T>C (p.Gly1583=) c.5499T>C (p.Gly1833=) c.5400T>C (p.Gly1800=) c.5334T>C (p.Gly1778=) c.5316T>C (p.Gly1772=) c.4968T>C (p.Gly1656=) c.4848T>C (p.Gly1616=) c.*16T>C (n.*16T>C) n.5090T>C c.5475T>C (p.Gly1825=) c.5412T>C (p.Gly1804=) c.5403T>C (p.Gly1801=) c.5013T>C (p.Gly1671=) c.4872T>C (p.Gly1624=) c.5304T>C (p.Gly1768=) | |
8 | g.41668426A>T | CA460782053 | ANK1 | c.5358T>A (p.Gly1786=) c.5454T>A (p.Gly1818=) c.5271T>A (p.Gly1757=) c.5235T>A (p.Gly1745=) c.1249T>A c.807T>A c.2713T>A n.2629T>A c.4749T>A (p.Gly1583=) c.5499T>A (p.Gly1833=) c.5400T>A (p.Gly1800=) c.5334T>A (p.Gly1778=) c.5316T>A (p.Gly1772=) c.4968T>A (p.Gly1656=) c.4848T>A (p.Gly1616=) c.*16T>A (n.*16T>A) n.5090T>A c.5475T>A (p.Gly1825=) c.5412T>A (p.Gly1804=) c.5403T>A (p.Gly1801=) c.5013T>A (p.Gly1671=) c.4872T>A (p.Gly1624=) c.5304T>A (p.Gly1768=) | gnomAD v4 |
8 | g.41668427C>A | CA371051525 | ANK1 | c.5357G>T (p.Gly1786Val) c.5453G>T (p.Gly1818Val) c.5270G>T (p.Gly1757Val) c.5234G>T (p.Gly1745Val) c.1248G>T c.806G>T c.2712G>T n.2628G>T c.4748G>T (p.Gly1583Val) c.5498G>T (p.Gly1833Val) c.5399G>T (p.Gly1800Val) c.5333G>T (p.Gly1778Val) c.5315G>T (p.Gly1772Val) c.4967G>T (p.Gly1656Val) c.4847G>T (p.Gly1616Val) c.*15G>T (n.*15G>T) n.5089G>T c.5474G>T (p.Gly1825Val) c.5411G>T (p.Gly1804Val) c.5402G>T (p.Gly1801Val) c.5012G>T (p.Gly1671Val) c.4871G>T (p.Gly1624Val) c.5303G>T (p.Gly1768Val) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.41668427C= | CA1779071195 | ANK1 | c.5357G= (p.Gly1786=) c.5453G= (p.Gly1818=) c.5270G= (p.Gly1757=) c.5234G= (p.Gly1745=) c.1248G= c.806G= c.2712G= n.2628G= c.4748G= (p.Gly1583=) c.5498G= (p.Gly1833=) c.5399G= (p.Gly1800=) c.5333G= (p.Gly1778=) c.5315G= (p.Gly1772=) c.4967G= (p.Gly1656=) c.4847G= (p.Gly1616=) c.*15G= (n.*15G=) n.5089G= c.5474G= (p.Gly1825=) c.5411G= (p.Gly1804=) c.5402G= (p.Gly1801=) c.5012G= (p.Gly1671=) c.4871G= (p.Gly1624=) c.5303G= (p.Gly1768=) | |
8 | g.41668427C>G | CA371051523 | ANK1 | c.5357G>C (p.Gly1786Ala) c.5453G>C (p.Gly1818Ala) c.5270G>C (p.Gly1757Ala) c.5234G>C (p.Gly1745Ala) c.1248G>C c.806G>C c.2712G>C n.2628G>C c.4748G>C (p.Gly1583Ala) c.5498G>C (p.Gly1833Ala) c.5399G>C (p.Gly1800Ala) c.5333G>C (p.Gly1778Ala) c.5315G>C (p.Gly1772Ala) c.4967G>C (p.Gly1656Ala) c.4847G>C (p.Gly1616Ala) c.*15G>C (n.*15G>C) n.5089G>C c.5474G>C (p.Gly1825Ala) c.5411G>C (p.Gly1804Ala) c.5402G>C (p.Gly1801Ala) c.5012G>C (p.Gly1671Ala) c.4871G>C (p.Gly1624Ala) c.5303G>C (p.Gly1768Ala) | |
8 | g.41668427C>T | CA4727344 | ANK1 | c.5357G>A (p.Gly1786Asp) c.5453G>A (p.Gly1818Asp) c.5270G>A (p.Gly1757Asp) c.5234G>A (p.Gly1745Asp) c.1248G>A c.806G>A c.2712G>A n.2628G>A c.4748G>A (p.Gly1583Asp) c.5498G>A (p.Gly1833Asp) c.5399G>A (p.Gly1800Asp) c.5333G>A (p.Gly1778Asp) c.5315G>A (p.Gly1772Asp) c.4967G>A (p.Gly1656Asp) c.4847G>A (p.Gly1616Asp) c.*15G>A (n.*15G>A) n.5089G>A c.5474G>A (p.Gly1825Asp) c.5411G>A (p.Gly1804Asp) c.5402G>A (p.Gly1801Asp) c.5012G>A (p.Gly1671Asp) c.4871G>A (p.Gly1624Asp) c.5303G>A (p.Gly1768Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.41668428C>A | CA371051526 | ANK1 | c.5356G>T (p.Gly1786Cys) c.5452G>T (p.Gly1818Cys) c.5269G>T (p.Gly1757Cys) c.5233G>T (p.Gly1745Cys) c.1247G>T c.805G>T c.2711G>T n.2627G>T c.4747G>T (p.Gly1583Cys) c.5497G>T (p.Gly1833Cys) c.5398G>T (p.Gly1800Cys) c.5332G>T (p.Gly1778Cys) c.5314G>T (p.Gly1772Cys) c.4966G>T (p.Gly1656Cys) c.4846G>T (p.Gly1616Cys) c.*14G>T (n.*14G>T) n.5088G>T c.5473G>T (p.Gly1825Cys) c.5410G>T (p.Gly1804Cys) c.5401G>T (p.Gly1801Cys) c.5011G>T (p.Gly1671Cys) c.4870G>T (p.Gly1624Cys) c.5302G>T (p.Gly1768Cys) | |
8 | g.41668428C= | CA1779071199 | ANK1 | c.5356G= (p.Gly1786=) c.5452G= (p.Gly1818=) c.5269G= (p.Gly1757=) c.5233G= (p.Gly1745=) c.1247G= c.805G= c.2711G= n.2627G= c.4747G= (p.Gly1583=) c.5497G= (p.Gly1833=) c.5398G= (p.Gly1800=) c.5332G= (p.Gly1778=) c.5314G= (p.Gly1772=) c.4966G= (p.Gly1656=) c.4846G= (p.Gly1616=) c.*14G= (n.*14G=) n.5088G= c.5473G= (p.Gly1825=) c.5410G= (p.Gly1804=) c.5401G= (p.Gly1801=) c.5011G= (p.Gly1671=) c.4870G= (p.Gly1624=) c.5302G= (p.Gly1768=) | |
8 | g.41668428C>G | CA371051528 | ANK1 | c.5356G>C (p.Gly1786Arg) c.5452G>C (p.Gly1818Arg) c.5269G>C (p.Gly1757Arg) c.5233G>C (p.Gly1745Arg) c.1247G>C c.805G>C c.2711G>C n.2627G>C c.4747G>C (p.Gly1583Arg) c.5497G>C (p.Gly1833Arg) c.5398G>C (p.Gly1800Arg) c.5332G>C (p.Gly1778Arg) c.5314G>C (p.Gly1772Arg) c.4966G>C (p.Gly1656Arg) c.4846G>C (p.Gly1616Arg) c.*14G>C (n.*14G>C) n.5088G>C c.5473G>C (p.Gly1825Arg) c.5410G>C (p.Gly1804Arg) c.5401G>C (p.Gly1801Arg) c.5011G>C (p.Gly1671Arg) c.4870G>C (p.Gly1624Arg) c.5302G>C (p.Gly1768Arg) | |
8 | g.41668428C>T | CA4727345 | ANK1 | c.5356G>A (p.Gly1786Ser) c.5452G>A (p.Gly1818Ser) c.5269G>A (p.Gly1757Ser) c.5233G>A (p.Gly1745Ser) c.1247G>A c.805G>A c.2711G>A n.2627G>A c.4747G>A (p.Gly1583Ser) c.5497G>A (p.Gly1833Ser) c.5398G>A (p.Gly1800Ser) c.5332G>A (p.Gly1778Ser) c.5314G>A (p.Gly1772Ser) c.4966G>A (p.Gly1656Ser) c.4846G>A (p.Gly1616Ser) c.*14G>A (n.*14G>A) n.5088G>A c.5473G>A (p.Gly1825Ser) c.5410G>A (p.Gly1804Ser) c.5401G>A (p.Gly1801Ser) c.5011G>A (p.Gly1671Ser) c.4870G>A (p.Gly1624Ser) c.5302G>A (p.Gly1768Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.41668429G>A | CA4727346 | ANK1 | c.5355C>T (p.Pro1785=) c.5451C>T (p.Pro1817=) c.5268C>T (p.Pro1756=) c.5232C>T (p.Pro1744=) c.1246C>T c.804C>T c.2710C>T n.2626C>T c.4746C>T (p.Pro1582=) c.5496C>T (p.Pro1832=) c.5397C>T (p.Pro1799=) c.5331C>T (p.Pro1777=) c.5313C>T (p.Pro1771=) c.4965C>T (p.Pro1655=) c.4845C>T (p.Pro1615=) c.*13C>T (n.*13C>T) n.5087C>T c.5472C>T (p.Pro1824=) c.5409C>T (p.Pro1803=) c.5400C>T (p.Pro1800=) c.5010C>T (p.Pro1670=) c.4869C>T (p.Pro1623=) c.5301C>T (p.Pro1767=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
8 | g.41668429G>C | CA460782057 | ANK1 | c.5355C>G (p.Pro1785=) c.5451C>G (p.Pro1817=) c.5268C>G (p.Pro1756=) c.5232C>G (p.Pro1744=) c.1246C>G c.804C>G c.2710C>G n.2626C>G c.4746C>G (p.Pro1582=) c.5496C>G (p.Pro1832=) c.5397C>G (p.Pro1799=) c.5331C>G (p.Pro1777=) c.5313C>G (p.Pro1771=) c.4965C>G (p.Pro1655=) c.4845C>G (p.Pro1615=) c.*13C>G (n.*13C>G) n.5087C>G c.5472C>G (p.Pro1824=) c.5409C>G (p.Pro1803=) c.5400C>G (p.Pro1800=) c.5010C>G (p.Pro1670=) c.4869C>G (p.Pro1623=) c.5301C>G (p.Pro1767=) | |
8 | g.41668429G= | CA1779071208 | ANK1 | c.5355C= (p.Pro1785=) c.5451C= (p.Pro1817=) c.5268C= (p.Pro1756=) c.5232C= (p.Pro1744=) c.1246C= c.804C= c.2710C= n.2626C= c.4746C= (p.Pro1582=) c.5496C= (p.Pro1832=) c.5397C= (p.Pro1799=) c.5331C= (p.Pro1777=) c.5313C= (p.Pro1771=) c.4965C= (p.Pro1655=) c.4845C= (p.Pro1615=) c.*13C= (n.*13C=) n.5087C= c.5472C= (p.Pro1824=) c.5409C= (p.Pro1803=) c.5400C= (p.Pro1800=) c.5010C= (p.Pro1670=) c.4869C= (p.Pro1623=) c.5301C= (p.Pro1767=) | |
8 | g.41668429G>T | CA460782056 | ANK1 | c.5355C>A (p.Pro1785=) c.5451C>A (p.Pro1817=) c.5268C>A (p.Pro1756=) c.5232C>A (p.Pro1744=) c.1246C>A c.804C>A c.2710C>A n.2626C>A c.4746C>A (p.Pro1582=) c.5496C>A (p.Pro1832=) c.5397C>A (p.Pro1799=) c.5331C>A (p.Pro1777=) c.5313C>A (p.Pro1771=) c.4965C>A (p.Pro1655=) c.4845C>A (p.Pro1615=) c.*13C>A (n.*13C>A) n.5087C>A c.5472C>A (p.Pro1824=) c.5409C>A (p.Pro1803=) c.5400C>A (p.Pro1800=) c.5010C>A (p.Pro1670=) c.4869C>A (p.Pro1623=) c.5301C>A (p.Pro1767=) | |
8 | g.41668431del | CA2579152467 | ANK1 | c.5355del (p.Gly1786ValfsTer13) c.5451del (p.Gly1818ValfsTer13) c.5268del (p.Gly1757ValfsTer13) c.5232del (p.Gly1745ValfsTer13) c.1246del c.804del c.2710del n.2626del c.4746del (p.Gly1583ValfsTer13) c.5496del (p.Gly1833ValfsTer13) c.5397del (p.Gly1800ValfsTer13) c.5331del (p.Gly1778ValfsTer13) c.5313del (p.Gly1772ValfsTer13) c.4965del (p.Gly1656ValfsTer13) c.4845del (p.Gly1616ValfsTer13) c.*13del (n.*13del) n.5087del c.5472del (p.Gly1825ValfsTer13) c.5409del (p.Gly1804ValfsTer13) c.5400del (p.Gly1801ValfsTer13) c.5010del (p.Gly1671ValfsTer13) c.4869del (p.Gly1624ValfsTer13) c.5301del (p.Gly1768ValfsTer13) | |
8 | g.41668430G>A | CA371051534 | ANK1 | c.5354C>T (p.Pro1785Leu) c.5450C>T (p.Pro1817Leu) c.5267C>T (p.Pro1756Leu) c.5231C>T (p.Pro1744Leu) c.1245C>T c.803C>T c.2709C>T n.2625C>T c.4745C>T (p.Pro1582Leu) c.5495C>T (p.Pro1832Leu) c.5396C>T (p.Pro1799Leu) c.5330C>T (p.Pro1777Leu) c.5312C>T (p.Pro1771Leu) c.4964C>T (p.Pro1655Leu) c.4844C>T (p.Pro1615Leu) c.*12C>T (n.*12C>T) n.5086C>T c.5471C>T (p.Pro1824Leu) c.5408C>T (p.Pro1803Leu) c.5399C>T (p.Pro1800Leu) c.5009C>T (p.Pro1670Leu) c.4868C>T (p.Pro1623Leu) c.5300C>T (p.Pro1767Leu) | |
8 | g.41668430G>C | CA371051535 | ANK1 | c.5354C>G (p.Pro1785Arg) c.5450C>G (p.Pro1817Arg) c.5267C>G (p.Pro1756Arg) c.5231C>G (p.Pro1744Arg) c.1245C>G c.803C>G c.2709C>G n.2625C>G c.4745C>G (p.Pro1582Arg) c.5495C>G (p.Pro1832Arg) c.5396C>G (p.Pro1799Arg) c.5330C>G (p.Pro1777Arg) c.5312C>G (p.Pro1771Arg) c.4964C>G (p.Pro1655Arg) c.4844C>G (p.Pro1615Arg) c.*12C>G (n.*12C>G) n.5086C>G c.5471C>G (p.Pro1824Arg) c.5408C>G (p.Pro1803Arg) c.5399C>G (p.Pro1800Arg) c.5009C>G (p.Pro1670Arg) c.4868C>G (p.Pro1623Arg) c.5300C>G (p.Pro1767Arg) | |
8 | g.41668430G>T | CA371051538 | ANK1 | c.5354C>A (p.Pro1785His) c.5450C>A (p.Pro1817His) c.5267C>A (p.Pro1756His) c.5231C>A (p.Pro1744His) c.1245C>A c.803C>A c.2709C>A n.2625C>A c.4745C>A (p.Pro1582His) c.5495C>A (p.Pro1832His) c.5396C>A (p.Pro1799His) c.5330C>A (p.Pro1777His) c.5312C>A (p.Pro1771His) c.4964C>A (p.Pro1655His) c.4844C>A (p.Pro1615His) c.*12C>A (n.*12C>A) n.5086C>A c.5471C>A (p.Pro1824His) c.5408C>A (p.Pro1803His) c.5399C>A (p.Pro1800His) c.5009C>A (p.Pro1670His) c.4868C>A (p.Pro1623His) c.5300C>A (p.Pro1767His) | |
8 | g.41668431G>A | CA371051539 | ANK1 | c.5353C>T (p.Pro1785Ser) c.5449C>T (p.Pro1817Ser) c.5266C>T (p.Pro1756Ser) c.5230C>T (p.Pro1744Ser) c.1244C>T c.802C>T c.2708C>T n.2624C>T c.4744C>T (p.Pro1582Ser) c.5494C>T (p.Pro1832Ser) c.5395C>T (p.Pro1799Ser) c.5329C>T (p.Pro1777Ser) c.5311C>T (p.Pro1771Ser) c.4963C>T (p.Pro1655Ser) c.4843C>T (p.Pro1615Ser) c.*11C>T (n.*11C>T) n.5085C>T c.5470C>T (p.Pro1824Ser) c.5407C>T (p.Pro1803Ser) c.5398C>T (p.Pro1800Ser) c.5008C>T (p.Pro1670Ser) c.4867C>T (p.Pro1623Ser) c.5299C>T (p.Pro1767Ser) | |
8 | g.41668431G>C | CA4727347 | ANK1 | c.5353C>G (p.Pro1785Ala) c.5449C>G (p.Pro1817Ala) c.5266C>G (p.Pro1756Ala) c.5230C>G (p.Pro1744Ala) c.1244C>G c.802C>G c.2708C>G n.2624C>G c.4744C>G (p.Pro1582Ala) c.5494C>G (p.Pro1832Ala) c.5395C>G (p.Pro1799Ala) c.5329C>G (p.Pro1777Ala) c.5311C>G (p.Pro1771Ala) c.4963C>G (p.Pro1655Ala) c.4843C>G (p.Pro1615Ala) c.*11C>G (n.*11C>G) n.5085C>G c.5470C>G (p.Pro1824Ala) c.5407C>G (p.Pro1803Ala) c.5398C>G (p.Pro1800Ala) c.5008C>G (p.Pro1670Ala) c.4867C>G (p.Pro1623Ala) c.5299C>G (p.Pro1767Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.41668431G= | CA1779071214 | ANK1 | c.5353C= (p.Pro1785=) c.5449C= (p.Pro1817=) c.5266C= (p.Pro1756=) c.5230C= (p.Pro1744=) c.1244C= c.802C= c.2708C= n.2624C= c.4744C= (p.Pro1582=) c.5494C= (p.Pro1832=) c.5395C= (p.Pro1799=) c.5329C= (p.Pro1777=) c.5311C= (p.Pro1771=) c.4963C= (p.Pro1655=) c.4843C= (p.Pro1615=) c.*11C= (n.*11C=) n.5085C= c.5470C= (p.Pro1824=) c.5407C= (p.Pro1803=) c.5398C= (p.Pro1800=) c.5008C= (p.Pro1670=) c.4867C= (p.Pro1623=) c.5299C= (p.Pro1767=) | |
8 | g.41668431G>T | CA371051542 | ANK1 | c.5353C>A (p.Pro1785Thr) c.5449C>A (p.Pro1817Thr) c.5266C>A (p.Pro1756Thr) c.5230C>A (p.Pro1744Thr) c.1244C>A c.802C>A c.2708C>A n.2624C>A c.4744C>A (p.Pro1582Thr) c.5494C>A (p.Pro1832Thr) c.5395C>A (p.Pro1799Thr) c.5329C>A (p.Pro1777Thr) c.5311C>A (p.Pro1771Thr) c.4963C>A (p.Pro1655Thr) c.4843C>A (p.Pro1615Thr) c.*11C>A (n.*11C>A) n.5085C>A c.5470C>A (p.Pro1824Thr) c.5407C>A (p.Pro1803Thr) c.5398C>A (p.Pro1800Thr) c.5008C>A (p.Pro1670Thr) c.4867C>A (p.Pro1623Thr) c.5299C>A (p.Pro1767Thr) | |
8 | g.41668432C>A | CA371051543 | ANK1 | c.5352G>T (p.Glu1784Asp) c.5448G>T (p.Glu1816Asp) c.5265G>T (p.Glu1755Asp) c.5229G>T (p.Glu1743Asp) c.1243G>T c.801G>T c.2707G>T n.2623G>T c.4743G>T (p.Glu1581Asp) c.5493G>T (p.Glu1831Asp) c.5394G>T (p.Glu1798Asp) c.5328G>T (p.Glu1776Asp) c.5310G>T (p.Glu1770Asp) c.4962G>T (p.Glu1654Asp) c.4842G>T (p.Glu1614Asp) c.*10G>T (n.*10G>T) n.5084G>T c.5469G>T (p.Glu1823Asp) c.5406G>T (p.Glu1802Asp) c.5397G>T (p.Glu1799Asp) c.5007G>T (p.Glu1669Asp) c.4866G>T (p.Glu1622Asp) c.5298G>T (p.Glu1766Asp) | |
8 | g.41668432C>G | CA371051544 | ANK1 | c.5352G>C (p.Glu1784Asp) c.5448G>C (p.Glu1816Asp) c.5265G>C (p.Glu1755Asp) c.5229G>C (p.Glu1743Asp) c.1243G>C c.801G>C c.2707G>C n.2623G>C c.4743G>C (p.Glu1581Asp) c.5493G>C (p.Glu1831Asp) c.5394G>C (p.Glu1798Asp) c.5328G>C (p.Glu1776Asp) c.5310G>C (p.Glu1770Asp) c.4962G>C (p.Glu1654Asp) c.4842G>C (p.Glu1614Asp) c.*10G>C (n.*10G>C) n.5084G>C c.5469G>C (p.Glu1823Asp) c.5406G>C (p.Glu1802Asp) c.5397G>C (p.Glu1799Asp) c.5007G>C (p.Glu1669Asp) c.4866G>C (p.Glu1622Asp) c.5298G>C (p.Glu1766Asp) | |
8 | g.41668432C>T | CA460782058 | ANK1 | c.5352G>A (p.Glu1784=) c.5448G>A (p.Glu1816=) c.5265G>A (p.Glu1755=) c.5229G>A (p.Glu1743=) c.1243G>A c.801G>A c.2707G>A n.2623G>A c.4743G>A (p.Glu1581=) c.5493G>A (p.Glu1831=) c.5394G>A (p.Glu1798=) c.5328G>A (p.Glu1776=) c.5310G>A (p.Glu1770=) c.4962G>A (p.Glu1654=) c.4842G>A (p.Glu1614=) c.*10G>A (n.*10G>A) n.5084G>A c.5469G>A (p.Glu1823=) c.5406G>A (p.Glu1802=) c.5397G>A (p.Glu1799=) c.5007G>A (p.Glu1669=) c.4866G>A (p.Glu1622=) c.5298G>A (p.Glu1766=) | gnomAD v4 COSMIC COSMIC |
8 | g.41668433T>A | CA371051549 | ANK1 | c.5351A>T (p.Glu1784Val) c.5447A>T (p.Glu1816Val) c.5264A>T (p.Glu1755Val) c.5228A>T (p.Glu1743Val) c.1242A>T c.800A>T c.2706A>T n.2622A>T c.4742A>T (p.Glu1581Val) c.5492A>T (p.Glu1831Val) c.5393A>T (p.Glu1798Val) c.5327A>T (p.Glu1776Val) c.5309A>T (p.Glu1770Val) c.4961A>T (p.Glu1654Val) c.4841A>T (p.Glu1614Val) c.*9A>T (n.*9A>T) n.5083A>T c.5468A>T (p.Glu1823Val) c.5405A>T (p.Glu1802Val) c.5396A>T (p.Glu1799Val) c.5006A>T (p.Glu1669Val) c.4865A>T (p.Glu1622Val) c.5297A>T (p.Glu1766Val) | |
8 | g.41668433T>C | CA371051548 | ANK1 | c.5351A>G (p.Glu1784Gly) c.5447A>G (p.Glu1816Gly) c.5264A>G (p.Glu1755Gly) c.5228A>G (p.Glu1743Gly) c.1242A>G c.800A>G c.2706A>G n.2622A>G c.4742A>G (p.Glu1581Gly) c.5492A>G (p.Glu1831Gly) c.5393A>G (p.Glu1798Gly) c.5327A>G (p.Glu1776Gly) c.5309A>G (p.Glu1770Gly) c.4961A>G (p.Glu1654Gly) c.4841A>G (p.Glu1614Gly) c.*9A>G (n.*9A>G) n.5083A>G c.5468A>G (p.Glu1823Gly) c.5405A>G (p.Glu1802Gly) c.5396A>G (p.Glu1799Gly) c.5006A>G (p.Glu1669Gly) c.4865A>G (p.Glu1622Gly) c.5297A>G (p.Glu1766Gly) | dbSNP |
8 | g.41668433T>G | CA371051547 | ANK1 | c.5351A>C (p.Glu1784Ala) c.5447A>C (p.Glu1816Ala) c.5264A>C (p.Glu1755Ala) c.5228A>C (p.Glu1743Ala) c.1242A>C c.800A>C c.2706A>C n.2622A>C c.4742A>C (p.Glu1581Ala) c.5492A>C (p.Glu1831Ala) c.5393A>C (p.Glu1798Ala) c.5327A>C (p.Glu1776Ala) c.5309A>C (p.Glu1770Ala) c.4961A>C (p.Glu1654Ala) c.4841A>C (p.Glu1614Ala) c.*9A>C (n.*9A>C) n.5083A>C c.5468A>C (p.Glu1823Ala) c.5405A>C (p.Glu1802Ala) c.5396A>C (p.Glu1799Ala) c.5006A>C (p.Glu1669Ala) c.4865A>C (p.Glu1622Ala) c.5297A>C (p.Glu1766Ala) | |
8 | g.41668433T= | CA1779071217 | ANK1 | c.5351A= (p.Glu1784=) c.5447A= (p.Glu1816=) c.5264A= (p.Glu1755=) c.5228A= (p.Glu1743=) c.1242A= c.800A= c.2706A= n.2622A= c.4742A= (p.Glu1581=) c.5492A= (p.Glu1831=) c.5393A= (p.Glu1798=) c.5327A= (p.Glu1776=) c.5309A= (p.Glu1770=) c.4961A= (p.Glu1654=) c.4841A= (p.Glu1614=) c.*9A= (n.*9A=) n.5083A= c.5468A= (p.Glu1823=) c.5405A= (p.Glu1802=) c.5396A= (p.Glu1799=) c.5006A= (p.Glu1669=) c.4865A= (p.Glu1622=) c.5297A= (p.Glu1766=) | |
8 | g.41668434C>A | CA371051550 | ANK1 | c.5350G>T (p.Glu1784Ter) c.5446G>T (p.Glu1816Ter) c.5263G>T (p.Glu1755Ter) c.5227G>T (p.Glu1743Ter) c.1241G>T c.799G>T c.2705G>T n.2621G>T c.4741G>T (p.Glu1581Ter) c.5491G>T (p.Glu1831Ter) c.5392G>T (p.Glu1798Ter) c.5326G>T (p.Glu1776Ter) c.5308G>T (p.Glu1770Ter) c.4960G>T (p.Glu1654Ter) c.4840G>T (p.Glu1614Ter) c.*8G>T (n.*8G>T) n.5082G>T c.5467G>T (p.Glu1823Ter) c.5404G>T (p.Glu1802Ter) c.5395G>T (p.Glu1799Ter) c.5005G>T (p.Glu1669Ter) c.4864G>T (p.Glu1622Ter) c.5296G>T (p.Glu1766Ter) | |
8 | g.41668434C>G | CA371051553 | ANK1 | c.5350G>C (p.Glu1784Gln) c.5446G>C (p.Glu1816Gln) c.5263G>C (p.Glu1755Gln) c.5227G>C (p.Glu1743Gln) c.1241G>C c.799G>C c.2705G>C n.2621G>C c.4741G>C (p.Glu1581Gln) c.5491G>C (p.Glu1831Gln) c.5392G>C (p.Glu1798Gln) c.5326G>C (p.Glu1776Gln) c.5308G>C (p.Glu1770Gln) c.4960G>C (p.Glu1654Gln) c.4840G>C (p.Glu1614Gln) c.*8G>C (n.*8G>C) n.5082G>C c.5467G>C (p.Glu1823Gln) c.5404G>C (p.Glu1802Gln) c.5395G>C (p.Glu1799Gln) c.5005G>C (p.Glu1669Gln) c.4864G>C (p.Glu1622Gln) c.5296G>C (p.Glu1766Gln) | gnomAD v4 |
8 | g.41668434C>T | CA371051552 | ANK1 | c.5350G>A (p.Glu1784Lys) c.5446G>A (p.Glu1816Lys) c.5263G>A (p.Glu1755Lys) c.5227G>A (p.Glu1743Lys) c.1241G>A c.799G>A c.2705G>A n.2621G>A c.4741G>A (p.Glu1581Lys) c.5491G>A (p.Glu1831Lys) c.5392G>A (p.Glu1798Lys) c.5326G>A (p.Glu1776Lys) c.5308G>A (p.Glu1770Lys) c.4960G>A (p.Glu1654Lys) c.4840G>A (p.Glu1614Lys) c.*8G>A (n.*8G>A) n.5082G>A c.5467G>A (p.Glu1823Lys) c.5404G>A (p.Glu1802Lys) c.5395G>A (p.Glu1799Lys) c.5005G>A (p.Glu1669Lys) c.4864G>A (p.Glu1622Lys) c.5296G>A (p.Glu1766Lys) | |
8 | g.41668435T>A | CA460782059 | ANK1 | c.5349A>T (p.Leu1783=) c.5445A>T (p.Leu1815=) c.5262A>T (p.Leu1754=) c.5226A>T (p.Leu1742=) c.1240A>T c.798A>T c.2704A>T n.2620A>T c.4740A>T (p.Leu1580=) c.5490A>T (p.Leu1830=) c.5391A>T (p.Leu1797=) c.5325A>T (p.Leu1775=) c.5307A>T (p.Leu1769=) c.4959A>T (p.Leu1653=) c.4839A>T (p.Leu1613=) c.*7A>T (n.*7A>T) n.5081A>T c.5466A>T (p.Leu1822=) c.5403A>T (p.Leu1801=) c.5394A>T (p.Leu1798=) c.5004A>T (p.Leu1668=) c.4863A>T (p.Leu1621=) c.5295A>T (p.Leu1765=) | |
8 | g.41668435T>C | CA460782060 | ANK1 | c.5349A>G (p.Leu1783=) c.5445A>G (p.Leu1815=) c.5262A>G (p.Leu1754=) c.5226A>G (p.Leu1742=) c.1240A>G c.798A>G c.2704A>G n.2620A>G c.4740A>G (p.Leu1580=) c.5490A>G (p.Leu1830=) c.5391A>G (p.Leu1797=) c.5325A>G (p.Leu1775=) c.5307A>G (p.Leu1769=) c.4959A>G (p.Leu1653=) c.4839A>G (p.Leu1613=) c.*7A>G (n.*7A>G) n.5081A>G c.5466A>G (p.Leu1822=) c.5403A>G (p.Leu1801=) c.5394A>G (p.Leu1798=) c.5004A>G (p.Leu1668=) c.4863A>G (p.Leu1621=) c.5295A>G (p.Leu1765=) | |
8 | g.41668435T>G | CA460782061 | ANK1 | c.5349A>C (p.Leu1783=) c.5445A>C (p.Leu1815=) c.5262A>C (p.Leu1754=) c.5226A>C (p.Leu1742=) c.1240A>C c.798A>C c.2704A>C n.2620A>C c.4740A>C (p.Leu1580=) c.5490A>C (p.Leu1830=) c.5391A>C (p.Leu1797=) c.5325A>C (p.Leu1775=) c.5307A>C (p.Leu1769=) c.4959A>C (p.Leu1653=) c.4839A>C (p.Leu1613=) c.*7A>C (n.*7A>C) n.5081A>C c.5466A>C (p.Leu1822=) c.5403A>C (p.Leu1801=) c.5394A>C (p.Leu1798=) c.5004A>C (p.Leu1668=) c.4863A>C (p.Leu1621=) c.5295A>C (p.Leu1765=) | |
8 | g.41668435_41668441delinsGC | CA2695209200 | ANK1 | c.5343_5349delinsGC (p.Gly1782ArgfsTer17) c.5439_5445delinsGC (p.Gly1814ArgfsTer17) c.5256_5262delinsGC (p.Gly1753ArgfsTer17) c.5220_5226delinsGC (p.Gly1741ArgfsTer17) c.1234_1240delinsGC c.792_798delinsGC c.2698_2704delinsGC n.2614_2620delinsGC c.4734_4740delinsGC (p.Gly1579ArgfsTer17) c.5484_5490delinsGC (p.Gly1829ArgfsTer17) c.5385_5391delinsGC (p.Gly1796ArgfsTer17) c.5319_5325delinsGC (p.Gly1774ArgfsTer17) c.5301_5307delinsGC (p.Gly1768ArgfsTer17) c.4953_4959delinsGC (p.Gly1652ArgfsTer17) c.4833_4839delinsGC (p.Gly1612ArgfsTer17) c.*1_*7delinsGC (n.*1_*7delinsGC) n.5075_5081delinsGC c.5460_5466delinsGC (p.Gly1821ArgfsTer17) c.5397_5403delinsGC (p.Gly1800ArgfsTer17) c.5388_5394delinsGC (p.Gly1797ArgfsTer17) c.4998_5004delinsGC (p.Gly1667ArgfsTer17) c.4857_4863delinsGC (p.Gly1620ArgfsTer17) c.5289_5295delinsGC (p.Gly1764ArgfsTer17) | |
8 | g.41668436A>C | CA371051555 | ANK1 | c.5348T>G (p.Leu1783Arg) c.5444T>G (p.Leu1815Arg) c.5261T>G (p.Leu1754Arg) c.5225T>G (p.Leu1742Arg) c.1239T>G c.797T>G c.2703T>G n.2619T>G c.4739T>G (p.Leu1580Arg) c.5489T>G (p.Leu1830Arg) c.5390T>G (p.Leu1797Arg) c.5324T>G (p.Leu1775Arg) c.5306T>G (p.Leu1769Arg) c.4958T>G (p.Leu1653Arg) c.4838T>G (p.Leu1613Arg) c.*6T>G (n.*6T>G) n.5080T>G c.5465T>G (p.Leu1822Arg) c.5402T>G (p.Leu1801Arg) c.5393T>G (p.Leu1798Arg) c.5003T>G (p.Leu1668Arg) c.4862T>G (p.Leu1621Arg) c.5294T>G (p.Leu1765Arg) | |
8 | g.41668436A>G | CA371051556 | ANK1 | c.5348T>C (p.Leu1783Pro) c.5444T>C (p.Leu1815Pro) c.5261T>C (p.Leu1754Pro) c.5225T>C (p.Leu1742Pro) c.1239T>C c.797T>C c.2703T>C n.2619T>C c.4739T>C (p.Leu1580Pro) c.5489T>C (p.Leu1830Pro) c.5390T>C (p.Leu1797Pro) c.5324T>C (p.Leu1775Pro) c.5306T>C (p.Leu1769Pro) c.4958T>C (p.Leu1653Pro) c.4838T>C (p.Leu1613Pro) c.*6T>C (n.*6T>C) n.5080T>C c.5465T>C (p.Leu1822Pro) c.5402T>C (p.Leu1801Pro) c.5393T>C (p.Leu1798Pro) c.5003T>C (p.Leu1668Pro) c.4862T>C (p.Leu1621Pro) c.5294T>C (p.Leu1765Pro) | |
8 | g.41668436A>T | CA371051559 | ANK1 | c.5348T>A (p.Leu1783Gln) c.5444T>A (p.Leu1815Gln) c.5261T>A (p.Leu1754Gln) c.5225T>A (p.Leu1742Gln) c.1239T>A c.797T>A c.2703T>A n.2619T>A c.4739T>A (p.Leu1580Gln) c.5489T>A (p.Leu1830Gln) c.5390T>A (p.Leu1797Gln) c.5324T>A (p.Leu1775Gln) c.5306T>A (p.Leu1769Gln) c.4958T>A (p.Leu1653Gln) c.4838T>A (p.Leu1613Gln) c.*6T>A (n.*6T>A) n.5080T>A c.5465T>A (p.Leu1822Gln) c.5402T>A (p.Leu1801Gln) c.5393T>A (p.Leu1798Gln) c.5003T>A (p.Leu1668Gln) c.4862T>A (p.Leu1621Gln) c.5294T>A (p.Leu1765Gln) | |
8 | g.41668437G>A | CA460782062 | ANK1 | c.5347C>T (p.Leu1783=) c.5443C>T (p.Leu1815=) c.5260C>T (p.Leu1754=) c.5224C>T (p.Leu1742=) c.1238C>T c.796C>T c.2702C>T n.2618C>T c.4738C>T (p.Leu1580=) c.5488C>T (p.Leu1830=) c.5389C>T (p.Leu1797=) c.5323C>T (p.Leu1775=) c.5305C>T (p.Leu1769=) c.4957C>T (p.Leu1653=) c.4837C>T (p.Leu1613=) c.*5C>T (n.*5C>T) n.5079C>T c.5464C>T (p.Leu1822=) c.5401C>T (p.Leu1801=) c.5392C>T (p.Leu1798=) c.5002C>T (p.Leu1668=) c.4861C>T (p.Leu1621=) c.5293C>T (p.Leu1765=) | |
8 | g.41668437G>C | CA371051562 | ANK1 | c.5347C>G (p.Leu1783Val) c.5443C>G (p.Leu1815Val) c.5260C>G (p.Leu1754Val) c.5224C>G (p.Leu1742Val) c.1238C>G c.796C>G c.2702C>G n.2618C>G c.4738C>G (p.Leu1580Val) c.5488C>G (p.Leu1830Val) c.5389C>G (p.Leu1797Val) c.5323C>G (p.Leu1775Val) c.5305C>G (p.Leu1769Val) c.4957C>G (p.Leu1653Val) c.4837C>G (p.Leu1613Val) c.*5C>G (n.*5C>G) n.5079C>G c.5464C>G (p.Leu1822Val) c.5401C>G (p.Leu1801Val) c.5392C>G (p.Leu1798Val) c.5002C>G (p.Leu1668Val) c.4861C>G (p.Leu1621Val) c.5293C>G (p.Leu1765Val) | |
8 | g.41668437G>T | CA371051564 | ANK1 | c.5347C>A (p.Leu1783Ile) c.5443C>A (p.Leu1815Ile) c.5260C>A (p.Leu1754Ile) c.5224C>A (p.Leu1742Ile) c.1238C>A c.796C>A c.2702C>A n.2618C>A c.4738C>A (p.Leu1580Ile) c.5488C>A (p.Leu1830Ile) c.5389C>A (p.Leu1797Ile) c.5323C>A (p.Leu1775Ile) c.5305C>A (p.Leu1769Ile) c.4957C>A (p.Leu1653Ile) c.4837C>A (p.Leu1613Ile) c.*5C>A (n.*5C>A) n.5079C>A c.5464C>A (p.Leu1822Ile) c.5401C>A (p.Leu1801Ile) c.5392C>A (p.Leu1798Ile) c.5002C>A (p.Leu1668Ile) c.4861C>A (p.Leu1621Ile) c.5293C>A (p.Leu1765Ile) | |
8 | g.41668438C>A | CA460782063 | ANK1 | c.5346G>T (p.Gly1782=) c.5442G>T (p.Gly1814=) c.5259G>T (p.Gly1753=) c.5223G>T (p.Gly1741=) c.1237G>T c.795G>T c.2701G>T n.2617G>T c.4737G>T (p.Gly1579=) c.5487G>T (p.Gly1829=) c.5388G>T (p.Gly1796=) c.5322G>T (p.Gly1774=) c.5304G>T (p.Gly1768=) c.4956G>T (p.Gly1652=) c.4836G>T (p.Gly1612=) c.*4G>T (n.*4G>T) n.5078G>T c.5463G>T (p.Gly1821=) c.5400G>T (p.Gly1800=) c.5391G>T (p.Gly1797=) c.5001G>T (p.Gly1667=) c.4860G>T (p.Gly1620=) c.5292G>T (p.Gly1764=) | gnomAD v4 |
8 | g.41668438C= | CA1779071222 | ANK1 | c.5346G= (p.Gly1782=) c.5442G= (p.Gly1814=) c.5259G= (p.Gly1753=) c.5223G= (p.Gly1741=) c.1237G= c.795G= c.2701G= n.2617G= c.4737G= (p.Gly1579=) c.5487G= (p.Gly1829=) c.5388G= (p.Gly1796=) c.5322G= (p.Gly1774=) c.5304G= (p.Gly1768=) c.4956G= (p.Gly1652=) c.4836G= (p.Gly1612=) c.*4G= (n.*4G=) n.5078G= c.5463G= (p.Gly1821=) c.5400G= (p.Gly1800=) c.5391G= (p.Gly1797=) c.5001G= (p.Gly1667=) c.4860G= (p.Gly1620=) c.5292G= (p.Gly1764=) | |
8 | g.41668438C>G | CA460782064 | ANK1 | c.5346G>C (p.Gly1782=) c.5442G>C (p.Gly1814=) c.5259G>C (p.Gly1753=) c.5223G>C (p.Gly1741=) c.1237G>C c.795G>C c.2701G>C n.2617G>C c.4737G>C (p.Gly1579=) c.5487G>C (p.Gly1829=) c.5388G>C (p.Gly1796=) c.5322G>C (p.Gly1774=) c.5304G>C (p.Gly1768=) c.4956G>C (p.Gly1652=) c.4836G>C (p.Gly1612=) c.*4G>C (n.*4G>C) n.5078G>C c.5463G>C (p.Gly1821=) c.5400G>C (p.Gly1800=) c.5391G>C (p.Gly1797=) c.5001G>C (p.Gly1667=) c.4860G>C (p.Gly1620=) c.5292G>C (p.Gly1764=) | |
8 | g.41668438C>T | CA4727348 | ANK1 | c.5346G>A (p.Gly1782=) c.5442G>A (p.Gly1814=) c.5259G>A (p.Gly1753=) c.5223G>A (p.Gly1741=) c.1237G>A c.795G>A c.2701G>A n.2617G>A c.4737G>A (p.Gly1579=) c.5487G>A (p.Gly1829=) c.5388G>A (p.Gly1796=) c.5322G>A (p.Gly1774=) c.5304G>A (p.Gly1768=) c.4956G>A (p.Gly1652=) c.4836G>A (p.Gly1612=) c.*4G>A (n.*4G>A) n.5078G>A c.5463G>A (p.Gly1821=) c.5400G>A (p.Gly1800=) c.5391G>A (p.Gly1797=) c.5001G>A (p.Gly1667=) c.4860G>A (p.Gly1620=) c.5292G>A (p.Gly1764=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.41668439C>A | CA371051572 | ANK1 | c.5345G>T (p.Gly1782Val) c.5441G>T (p.Gly1814Val) c.5258G>T (p.Gly1753Val) c.5222G>T (p.Gly1741Val) c.1236G>T c.794G>T c.2700G>T n.2616G>T c.4736G>T (p.Gly1579Val) c.5486G>T (p.Gly1829Val) c.5387G>T (p.Gly1796Val) c.5321G>T (p.Gly1774Val) c.5303G>T (p.Gly1768Val) c.4955G>T (p.Gly1652Val) c.4835G>T (p.Gly1612Val) c.*3G>T (n.*3G>T) n.5077G>T c.5462G>T (p.Gly1821Val) c.5399G>T (p.Gly1800Val) c.5390G>T (p.Gly1797Val) c.5000G>T (p.Gly1667Val) c.4859G>T (p.Gly1620Val) c.5291G>T (p.Gly1764Val) | |
8 | g.41668439C>G | CA371051568 | ANK1 | c.5345G>C (p.Gly1782Ala) c.5441G>C (p.Gly1814Ala) c.5258G>C (p.Gly1753Ala) c.5222G>C (p.Gly1741Ala) c.1236G>C c.794G>C c.2700G>C n.2616G>C c.4736G>C (p.Gly1579Ala) c.5486G>C (p.Gly1829Ala) c.5387G>C (p.Gly1796Ala) c.5321G>C (p.Gly1774Ala) c.5303G>C (p.Gly1768Ala) c.4955G>C (p.Gly1652Ala) c.4835G>C (p.Gly1612Ala) c.*3G>C (n.*3G>C) n.5077G>C c.5462G>C (p.Gly1821Ala) c.5399G>C (p.Gly1800Ala) c.5390G>C (p.Gly1797Ala) c.5000G>C (p.Gly1667Ala) c.4859G>C (p.Gly1620Ala) c.5291G>C (p.Gly1764Ala) | |
8 | g.41668439C>T | CA371051570 | ANK1 | c.5345G>A (p.Gly1782Glu) c.5441G>A (p.Gly1814Glu) c.5258G>A (p.Gly1753Glu) c.5222G>A (p.Gly1741Glu) c.1236G>A c.794G>A c.2700G>A n.2616G>A c.4736G>A (p.Gly1579Glu) c.5486G>A (p.Gly1829Glu) c.5387G>A (p.Gly1796Glu) c.5321G>A (p.Gly1774Glu) c.5303G>A (p.Gly1768Glu) c.4955G>A (p.Gly1652Glu) c.4835G>A (p.Gly1612Glu) c.*3G>A (n.*3G>A) n.5077G>A c.5462G>A (p.Gly1821Glu) c.5399G>A (p.Gly1800Glu) c.5390G>A (p.Gly1797Glu) c.5000G>A (p.Gly1667Glu) c.4859G>A (p.Gly1620Glu) c.5291G>A (p.Gly1764Glu) | |
8 | g.41668440C>A | CA371051574 | ANK1 | c.5344G>T (p.Gly1782Trp) c.5440G>T (p.Gly1814Trp) c.5257G>T (p.Gly1753Trp) c.5221G>T (p.Gly1741Trp) c.1235G>T c.793G>T c.2699G>T n.2615G>T c.4735G>T (p.Gly1579Trp) c.5485G>T (p.Gly1829Trp) c.5386G>T (p.Gly1796Trp) c.5320G>T (p.Gly1774Trp) c.5302G>T (p.Gly1768Trp) c.4954G>T (p.Gly1652Trp) c.4834G>T (p.Gly1612Trp) c.*2G>T (n.*2G>T) n.5076G>T c.5461G>T (p.Gly1821Trp) c.5398G>T (p.Gly1800Trp) c.5389G>T (p.Gly1797Trp) c.4999G>T (p.Gly1667Trp) c.4858G>T (p.Gly1620Trp) c.5290G>T (p.Gly1764Trp) | |
8 | g.41668440C>G | CA371051576 | ANK1 | c.5344G>C (p.Gly1782Arg) c.5440G>C (p.Gly1814Arg) c.5257G>C (p.Gly1753Arg) c.5221G>C (p.Gly1741Arg) c.1235G>C c.793G>C c.2699G>C n.2615G>C c.4735G>C (p.Gly1579Arg) c.5485G>C (p.Gly1829Arg) c.5386G>C (p.Gly1796Arg) c.5320G>C (p.Gly1774Arg) c.5302G>C (p.Gly1768Arg) c.4954G>C (p.Gly1652Arg) c.4834G>C (p.Gly1612Arg) c.*2G>C (n.*2G>C) n.5076G>C c.5461G>C (p.Gly1821Arg) c.5398G>C (p.Gly1800Arg) c.5389G>C (p.Gly1797Arg) c.4999G>C (p.Gly1667Arg) c.4858G>C (p.Gly1620Arg) c.5290G>C (p.Gly1764Arg) | |
8 | g.41668440C>T | CA371051579 | ANK1 | c.5344G>A (p.Gly1782Arg) c.5440G>A (p.Gly1814Arg) c.5257G>A (p.Gly1753Arg) c.5221G>A (p.Gly1741Arg) c.1235G>A c.793G>A c.2699G>A n.2615G>A c.4735G>A (p.Gly1579Arg) c.5485G>A (p.Gly1829Arg) c.5386G>A (p.Gly1796Arg) c.5320G>A (p.Gly1774Arg) c.5302G>A (p.Gly1768Arg) c.4954G>A (p.Gly1652Arg) c.4834G>A (p.Gly1612Arg) c.*2G>A (n.*2G>A) n.5076G>A c.5461G>A (p.Gly1821Arg) c.5398G>A (p.Gly1800Arg) c.5389G>A (p.Gly1797Arg) c.4999G>A (p.Gly1667Arg) c.4858G>A (p.Gly1620Arg) c.5290G>A (p.Gly1764Arg) | |
8 | g.41668441T>A | CA371051581 | ANK1 | c.5343A>T (p.Glu1781Asp) c.5439A>T (p.Glu1813Asp) c.5256A>T (p.Glu1752Asp) c.5220A>T (p.Glu1740Asp) c.1234A>T c.792A>T c.2698A>T n.2614A>T c.4734A>T (p.Glu1578Asp) c.5484A>T (p.Glu1828Asp) c.5385A>T (p.Glu1795Asp) c.5319A>T (p.Glu1773Asp) c.5301A>T (p.Glu1767Asp) c.4953A>T (p.Glu1651Asp) c.4833A>T (p.Glu1611Asp) c.*1A>T (n.*1A>T) n.5075A>T c.5460A>T (p.Glu1820Asp) c.5397A>T (p.Glu1799Asp) c.5388A>T (p.Glu1796Asp) c.4998A>T (p.Glu1666Asp) c.4857A>T (p.Glu1619Asp) c.5289A>T (p.Glu1763Asp) | |
8 | g.41668441T>C | CA460782065 | ANK1 | c.5343A>G (p.Glu1781=) c.5439A>G (p.Glu1813=) c.5256A>G (p.Glu1752=) c.5220A>G (p.Glu1740=) c.1234A>G c.792A>G c.2698A>G n.2614A>G c.4734A>G (p.Glu1578=) c.5484A>G (p.Glu1828=) c.5385A>G (p.Glu1795=) c.5319A>G (p.Glu1773=) c.5301A>G (p.Glu1767=) c.4953A>G (p.Glu1651=) c.4833A>G (p.Glu1611=) c.*1A>G (n.*1A>G) n.5075A>G c.5460A>G (p.Glu1820=) c.5397A>G (p.Glu1799=) c.5388A>G (p.Glu1796=) c.4998A>G (p.Glu1666=) c.4857A>G (p.Glu1619=) c.5289A>G (p.Glu1763=) | |
8 | g.41668441T>G | CA371051583 | ANK1 | c.5343A>C (p.Glu1781Asp) c.5439A>C (p.Glu1813Asp) c.5256A>C (p.Glu1752Asp) c.5220A>C (p.Glu1740Asp) c.1234A>C c.792A>C c.2698A>C n.2614A>C c.4734A>C (p.Glu1578Asp) c.5484A>C (p.Glu1828Asp) c.5385A>C (p.Glu1795Asp) c.5319A>C (p.Glu1773Asp) c.5301A>C (p.Glu1767Asp) c.4953A>C (p.Glu1651Asp) c.4833A>C (p.Glu1611Asp) c.*1A>C (n.*1A>C) n.5075A>C c.5460A>C (p.Glu1820Asp) c.5397A>C (p.Glu1799Asp) c.5388A>C (p.Glu1796Asp) c.4998A>C (p.Glu1666Asp) c.4857A>C (p.Glu1619Asp) c.5289A>C (p.Glu1763Asp) | |
8 | g.41668442T>A | CA371051588 | ANK1 | c.5342A>T (p.Glu1781Val) c.5438A>T (p.Glu1813Val) c.5255A>T (p.Glu1752Val) c.5219A>T (p.Glu1740Val) c.1233A>T c.791A>T c.2697A>T n.2613A>T c.4733A>T (p.Glu1578Val) c.5483A>T (p.Glu1828Val) c.5384A>T (p.Glu1795Val) c.5318A>T (p.Glu1773Val) c.5300A>T (p.Glu1767Val) c.4952A>T (p.Glu1651Val) c.4832A>T (p.Glu1611Val) c.5043A>T (p.Ter1681Cys) n.5074A>T c.5459A>T (p.Glu1820Val) c.5396A>T (p.Glu1799Val) c.5387A>T (p.Glu1796Val) c.4997A>T (p.Glu1666Val) c.4856A>T (p.Glu1619Val) c.5288A>T (p.Glu1763Val) | |
8 | g.41668442T>C | CA371051584 | ANK1 | c.5342A>G (p.Glu1781Gly) c.5438A>G (p.Glu1813Gly) c.5255A>G (p.Glu1752Gly) c.5219A>G (p.Glu1740Gly) c.1233A>G c.791A>G c.2697A>G n.2613A>G c.4733A>G (p.Glu1578Gly) c.5483A>G (p.Glu1828Gly) c.5384A>G (p.Glu1795Gly) c.5318A>G (p.Glu1773Gly) c.5300A>G (p.Glu1767Gly) c.4952A>G (p.Glu1651Gly) c.4832A>G (p.Glu1611Gly) c.5043A>G (p.Ter1681Trp) n.5074A>G c.5459A>G (p.Glu1820Gly) c.5396A>G (p.Glu1799Gly) c.5387A>G (p.Glu1796Gly) c.4997A>G (p.Glu1666Gly) c.4856A>G (p.Glu1619Gly) c.5288A>G (p.Glu1763Gly) | |
8 | g.41668442T>G | CA371051586 | ANK1 | c.5342A>C (p.Glu1781Ala) c.5438A>C (p.Glu1813Ala) c.5255A>C (p.Glu1752Ala) c.5219A>C (p.Glu1740Ala) c.1233A>C c.791A>C c.2697A>C n.2613A>C c.4733A>C (p.Glu1578Ala) c.5483A>C (p.Glu1828Ala) c.5384A>C (p.Glu1795Ala) c.5318A>C (p.Glu1773Ala) c.5300A>C (p.Glu1767Ala) c.4952A>C (p.Glu1651Ala) c.4832A>C (p.Glu1611Ala) c.5043A>C (p.Ter1681Cys) n.5074A>C c.5459A>C (p.Glu1820Ala) c.5396A>C (p.Glu1799Ala) c.5387A>C (p.Glu1796Ala) c.4997A>C (p.Glu1666Ala) c.4856A>C (p.Glu1619Ala) c.5288A>C (p.Glu1763Ala) | |
8 | g.41668443C>A | CA371051591 | ANK1 | c.5341G>T (p.Glu1781Ter) c.5437G>T (p.Glu1813Ter) c.5254G>T (p.Glu1752Ter) c.5218G>T (p.Glu1740Ter) c.1232G>T c.790G>T c.2696G>T n.2612G>T c.4732G>T (p.Glu1578Ter) c.5482G>T (p.Glu1828Ter) c.5383G>T (p.Glu1795Ter) c.5317G>T (p.Glu1773Ter) c.5299G>T (p.Glu1767Ter) c.4951G>T (p.Glu1651Ter) c.4831G>T (p.Glu1611Ter) c.5042G>T (p.Ter1681Leu) n.5073G>T c.5458G>T (p.Glu1820Ter) c.5395G>T (p.Glu1799Ter) c.5386G>T (p.Glu1796Ter) c.4996G>T (p.Glu1666Ter) c.4855G>T (p.Glu1619Ter) c.5287G>T (p.Glu1763Ter) | ClinVar |
8 | g.41668443C>G | CA371051593 | ANK1 | c.5341G>C (p.Glu1781Gln) c.5437G>C (p.Glu1813Gln) c.5254G>C (p.Glu1752Gln) c.5218G>C (p.Glu1740Gln) c.1232G>C c.790G>C c.2696G>C n.2612G>C c.4732G>C (p.Glu1578Gln) c.5482G>C (p.Glu1828Gln) c.5383G>C (p.Glu1795Gln) c.5317G>C (p.Glu1773Gln) c.5299G>C (p.Glu1767Gln) c.4951G>C (p.Glu1651Gln) c.4831G>C (p.Glu1611Gln) c.5042G>C (p.Ter1681Ser) n.5073G>C c.5458G>C (p.Glu1820Gln) c.5395G>C (p.Glu1799Gln) c.5386G>C (p.Glu1796Gln) c.4996G>C (p.Glu1666Gln) c.4855G>C (p.Glu1619Gln) c.5287G>C (p.Glu1763Gln) | |
8 | g.41668443C>T | CA371051595 | ANK1 | c.5341G>A (p.Glu1781Lys) c.5437G>A (p.Glu1813Lys) c.5254G>A (p.Glu1752Lys) c.5218G>A (p.Glu1740Lys) c.1232G>A c.790G>A c.2696G>A n.2612G>A c.4732G>A (p.Glu1578Lys) c.5482G>A (p.Glu1828Lys) c.5383G>A (p.Glu1795Lys) c.5317G>A (p.Glu1773Lys) c.5299G>A (p.Glu1767Lys) c.4951G>A (p.Glu1651Lys) c.4831G>A (p.Glu1611Lys) c.5042G>A (p.Ter1681=) n.5073G>A c.5458G>A (p.Glu1820Lys) c.5395G>A (p.Glu1799Lys) c.5386G>A (p.Glu1796Lys) c.4996G>A (p.Glu1666Lys) c.4855G>A (p.Glu1619Lys) c.5287G>A (p.Glu1763Lys) | |
8 | g.41668444A>C | CA460782066 | ANK1 | c.5340T>G (p.Thr1780=) c.5436T>G (p.Thr1812=) c.5253T>G (p.Thr1751=) c.5217T>G (p.Thr1739=) c.1231T>G c.789T>G c.2695T>G n.2611T>G c.4731T>G (p.Thr1577=) c.5481T>G (p.Thr1827=) c.5382T>G (p.Thr1794=) c.5316T>G (p.Thr1772=) c.5298T>G (p.Thr1766=) c.4950T>G (p.Thr1650=) c.4830T>G (p.Thr1610=) c.5041T>G (p.Ter1681Gly) n.5072T>G c.5457T>G (p.Thr1819=) c.5394T>G (p.Thr1798=) c.5385T>G (p.Thr1795=) c.4995T>G (p.Thr1665=) c.4854T>G (p.Thr1618=) c.5286T>G (p.Thr1762=) | |
8 | g.41668444A>G | CA460782067 | ANK1 | c.5340T>C (p.Thr1780=) c.5436T>C (p.Thr1812=) c.5253T>C (p.Thr1751=) c.5217T>C (p.Thr1739=) c.1231T>C c.789T>C c.2695T>C n.2611T>C c.4731T>C (p.Thr1577=) c.5481T>C (p.Thr1827=) c.5382T>C (p.Thr1794=) c.5316T>C (p.Thr1772=) c.5298T>C (p.Thr1766=) c.4950T>C (p.Thr1650=) c.4830T>C (p.Thr1610=) c.5041T>C (p.Ter1681Arg) n.5072T>C c.5457T>C (p.Thr1819=) c.5394T>C (p.Thr1798=) c.5385T>C (p.Thr1795=) c.4995T>C (p.Thr1665=) c.4854T>C (p.Thr1618=) c.5286T>C (p.Thr1762=) | |
8 | g.41668444A>T | CA460782068 | ANK1 | c.5340T>A (p.Thr1780=) c.5436T>A (p.Thr1812=) c.5253T>A (p.Thr1751=) c.5217T>A (p.Thr1739=) c.1231T>A c.789T>A c.2695T>A n.2611T>A c.4731T>A (p.Thr1577=) c.5481T>A (p.Thr1827=) c.5382T>A (p.Thr1794=) c.5316T>A (p.Thr1772=) c.5298T>A (p.Thr1766=) c.4950T>A (p.Thr1650=) c.4830T>A (p.Thr1610=) c.5041T>A (p.Ter1681Arg) n.5072T>A c.5457T>A (p.Thr1819=) c.5394T>A (p.Thr1798=) c.5385T>A (p.Thr1795=) c.4995T>A (p.Thr1665=) c.4854T>A (p.Thr1618=) c.5286T>A (p.Thr1762=) | |
8 | g.41668445G>A | CA371051597 | ANK1 | c.5339C>T (p.Thr1780Ile) c.5435C>T (p.Thr1812Ile) c.5252C>T (p.Thr1751Ile) c.5216C>T (p.Thr1739Ile) c.1230C>T c.788C>T c.2694C>T n.2610C>T c.4730C>T (p.Thr1577Ile) c.5480C>T (p.Thr1827Ile) c.5381C>T (p.Thr1794Ile) c.5315C>T (p.Thr1772Ile) c.5297C>T (p.Thr1766Ile) c.4949C>T (p.Thr1650Ile) c.4829C>T (p.Thr1610Ile) c.5040C>T (p.Asp1680=) n.5071C>T c.5456C>T (p.Thr1819Ile) c.5393C>T (p.Thr1798Ile) c.5384C>T (p.Thr1795Ile) c.4994C>T (p.Thr1665Ile) c.4853C>T (p.Thr1618Ile) c.5285C>T (p.Thr1762Ile) | |
8 | g.41668445G>C | CA371051599 | ANK1 | c.5339C>G (p.Thr1780Ser) c.5435C>G (p.Thr1812Ser) c.5252C>G (p.Thr1751Ser) c.5216C>G (p.Thr1739Ser) c.1230C>G c.788C>G c.2694C>G n.2610C>G c.4730C>G (p.Thr1577Ser) c.5480C>G (p.Thr1827Ser) c.5381C>G (p.Thr1794Ser) c.5315C>G (p.Thr1772Ser) c.5297C>G (p.Thr1766Ser) c.4949C>G (p.Thr1650Ser) c.4829C>G (p.Thr1610Ser) c.5040C>G (p.Asp1680Glu) n.5071C>G c.5456C>G (p.Thr1819Ser) c.5393C>G (p.Thr1798Ser) c.5384C>G (p.Thr1795Ser) c.4994C>G (p.Thr1665Ser) c.4853C>G (p.Thr1618Ser) c.5285C>G (p.Thr1762Ser) | |
8 | g.41668445G>T | CA371051601 | ANK1 | c.5339C>A (p.Thr1780Asn) c.5435C>A (p.Thr1812Asn) c.5252C>A (p.Thr1751Asn) c.5216C>A (p.Thr1739Asn) c.1230C>A c.788C>A c.2694C>A n.2610C>A c.4730C>A (p.Thr1577Asn) c.5480C>A (p.Thr1827Asn) c.5381C>A (p.Thr1794Asn) c.5315C>A (p.Thr1772Asn) c.5297C>A (p.Thr1766Asn) c.4949C>A (p.Thr1650Asn) c.4829C>A (p.Thr1610Asn) c.5040C>A (p.Asp1680Glu) n.5071C>A c.5456C>A (p.Thr1819Asn) c.5393C>A (p.Thr1798Asn) c.5384C>A (p.Thr1795Asn) c.4994C>A (p.Thr1665Asn) c.4853C>A (p.Thr1618Asn) c.5285C>A (p.Thr1762Asn) | |
8 | g.41668446T>A | CA371051603 | ANK1 | c.5338A>T (p.Thr1780Ser) c.5434A>T (p.Thr1812Ser) c.5251A>T (p.Thr1751Ser) c.5215A>T (p.Thr1739Ser) c.1229A>T c.787A>T c.2693A>T n.2609A>T c.4729A>T (p.Thr1577Ser) c.5479A>T (p.Thr1827Ser) c.5380A>T (p.Thr1794Ser) c.5314A>T (p.Thr1772Ser) c.5296A>T (p.Thr1766Ser) c.4948A>T (p.Thr1650Ser) c.4828A>T (p.Thr1610Ser) c.5039A>T (p.Asp1680Val) n.5070A>T c.5455A>T (p.Thr1819Ser) c.5392A>T (p.Thr1798Ser) c.5383A>T (p.Thr1795Ser) c.4993A>T (p.Thr1665Ser) c.4852A>T (p.Thr1618Ser) c.5284A>T (p.Thr1762Ser) | |
8 | g.41668446T>C | CA371051605 | ANK1 | c.5338A>G (p.Thr1780Ala) c.5434A>G (p.Thr1812Ala) c.5251A>G (p.Thr1751Ala) c.5215A>G (p.Thr1739Ala) c.1229A>G c.787A>G c.2693A>G n.2609A>G c.4729A>G (p.Thr1577Ala) c.5479A>G (p.Thr1827Ala) c.5380A>G (p.Thr1794Ala) c.5314A>G (p.Thr1772Ala) c.5296A>G (p.Thr1766Ala) c.4948A>G (p.Thr1650Ala) c.4828A>G (p.Thr1610Ala) c.5039A>G (p.Asp1680Gly) n.5070A>G c.5455A>G (p.Thr1819Ala) c.5392A>G (p.Thr1798Ala) c.5383A>G (p.Thr1795Ala) c.4993A>G (p.Thr1665Ala) c.4852A>G (p.Thr1618Ala) c.5284A>G (p.Thr1762Ala) | gnomAD v4 |
8 | g.41668446T>G | CA371051610 | ANK1 | c.5338A>C (p.Thr1780Pro) c.5434A>C (p.Thr1812Pro) c.5251A>C (p.Thr1751Pro) c.5215A>C (p.Thr1739Pro) c.1229A>C c.787A>C c.2693A>C n.2609A>C c.4729A>C (p.Thr1577Pro) c.5479A>C (p.Thr1827Pro) c.5380A>C (p.Thr1794Pro) c.5314A>C (p.Thr1772Pro) c.5296A>C (p.Thr1766Pro) c.4948A>C (p.Thr1650Pro) c.4828A>C (p.Thr1610Pro) c.5039A>C (p.Asp1680Ala) n.5070A>C c.5455A>C (p.Thr1819Pro) c.5392A>C (p.Thr1798Pro) c.5383A>C (p.Thr1795Pro) c.4993A>C (p.Thr1665Pro) c.4852A>C (p.Thr1618Pro) c.5284A>C (p.Thr1762Pro) | |
8 | g.41668447C>A | CA371051612 | ANK1 | c.5337G>T (p.Met1779Ile) c.5433G>T (p.Met1811Ile) c.5250G>T (p.Met1750Ile) c.5214G>T (p.Met1738Ile) c.1228G>T c.786G>T c.2692G>T n.2608G>T c.4728G>T (p.Met1576Ile) c.5478G>T (p.Met1826Ile) c.5379G>T (p.Met1793Ile) c.5313G>T (p.Met1771Ile) c.5295G>T (p.Met1765Ile) c.4947G>T (p.Met1649Ile) c.4827G>T (p.Met1609Ile) c.5038G>T (p.Asp1680Tyr) n.5069G>T c.5454G>T (p.Met1818Ile) c.5391G>T (p.Met1797Ile) c.5382G>T (p.Met1794Ile) c.4992G>T (p.Met1664Ile) c.4851G>T (p.Met1617Ile) c.5283G>T (p.Met1761Ile) | |
8 | g.41668447C>G | CA371051613 | ANK1 | c.5337G>C (p.Met1779Ile) c.5433G>C (p.Met1811Ile) c.5250G>C (p.Met1750Ile) c.5214G>C (p.Met1738Ile) c.1228G>C c.786G>C c.2692G>C n.2608G>C c.4728G>C (p.Met1576Ile) c.5478G>C (p.Met1826Ile) c.5379G>C (p.Met1793Ile) c.5313G>C (p.Met1771Ile) c.5295G>C (p.Met1765Ile) c.4947G>C (p.Met1649Ile) c.4827G>C (p.Met1609Ile) c.5038G>C (p.Asp1680His) n.5069G>C c.5454G>C (p.Met1818Ile) c.5391G>C (p.Met1797Ile) c.5382G>C (p.Met1794Ile) c.4992G>C (p.Met1664Ile) c.4851G>C (p.Met1617Ile) c.5283G>C (p.Met1761Ile) | |
8 | g.41668447C>T | CA371051615 | ANK1 | c.5337G>A (p.Met1779Ile) c.5433G>A (p.Met1811Ile) c.5250G>A (p.Met1750Ile) c.5214G>A (p.Met1738Ile) c.1228G>A c.786G>A c.2692G>A n.2608G>A c.4728G>A (p.Met1576Ile) c.5478G>A (p.Met1826Ile) c.5379G>A (p.Met1793Ile) c.5313G>A (p.Met1771Ile) c.5295G>A (p.Met1765Ile) c.4947G>A (p.Met1649Ile) c.4827G>A (p.Met1609Ile) c.5038G>A (p.Asp1680Asn) n.5069G>A c.5454G>A (p.Met1818Ile) c.5391G>A (p.Met1797Ile) c.5382G>A (p.Met1794Ile) c.4992G>A (p.Met1664Ile) c.4851G>A (p.Met1617Ile) c.5283G>A (p.Met1761Ile) | |
8 | g.41668448A= | CA1779071224 | ANK1 | c.5336T= (p.Met1779=) c.5432T= (p.Met1811=) c.5249T= (p.Met1750=) c.5213T= (p.Met1738=) c.1227T= c.785T= c.2691T= n.2607T= c.4727T= (p.Met1576=) c.5477T= (p.Met1826=) c.5378T= (p.Met1793=) c.5312T= (p.Met1771=) c.5294T= (p.Met1765=) c.4946T= (p.Met1649=) c.4826T= (p.Met1609=) c.5037T= (p.His1679=) n.5068T= c.5453T= (p.Met1818=) c.5390T= (p.Met1797=) c.5381T= (p.Met1794=) c.4991T= (p.Met1664=) c.4850T= (p.Met1617=) c.5282T= (p.Met1761=) | |
8 | g.41668448A>C | CA371051618 | ANK1 | c.5336T>G (p.Met1779Arg) c.5432T>G (p.Met1811Arg) c.5249T>G (p.Met1750Arg) c.5213T>G (p.Met1738Arg) c.1227T>G c.785T>G c.2691T>G n.2607T>G c.4727T>G (p.Met1576Arg) c.5477T>G (p.Met1826Arg) c.5378T>G (p.Met1793Arg) c.5312T>G (p.Met1771Arg) c.5294T>G (p.Met1765Arg) c.4946T>G (p.Met1649Arg) c.4826T>G (p.Met1609Arg) c.5037T>G (p.His1679Gln) n.5068T>G c.5453T>G (p.Met1818Arg) c.5390T>G (p.Met1797Arg) c.5381T>G (p.Met1794Arg) c.4991T>G (p.Met1664Arg) c.4850T>G (p.Met1617Arg) c.5282T>G (p.Met1761Arg) | |
8 | g.41668448A>G | CA371051623 | ANK1 | c.5336T>C (p.Met1779Thr) c.5432T>C (p.Met1811Thr) c.5249T>C (p.Met1750Thr) c.5213T>C (p.Met1738Thr) c.1227T>C c.785T>C c.2691T>C n.2607T>C c.4727T>C (p.Met1576Thr) c.5477T>C (p.Met1826Thr) c.5378T>C (p.Met1793Thr) c.5312T>C (p.Met1771Thr) c.5294T>C (p.Met1765Thr) c.4946T>C (p.Met1649Thr) c.4826T>C (p.Met1609Thr) c.5037T>C (p.His1679=) n.5068T>C c.5453T>C (p.Met1818Thr) c.5390T>C (p.Met1797Thr) c.5381T>C (p.Met1794Thr) c.4991T>C (p.Met1664Thr) c.4850T>C (p.Met1617Thr) c.5282T>C (p.Met1761Thr) | dbSNP |
8 | g.41668448A>T | CA371051620 | ANK1 | c.5336T>A (p.Met1779Lys) c.5432T>A (p.Met1811Lys) c.5249T>A (p.Met1750Lys) c.5213T>A (p.Met1738Lys) c.1227T>A c.785T>A c.2691T>A n.2607T>A c.4727T>A (p.Met1576Lys) c.5477T>A (p.Met1826Lys) c.5378T>A (p.Met1793Lys) c.5312T>A (p.Met1771Lys) c.5294T>A (p.Met1765Lys) c.4946T>A (p.Met1649Lys) c.4826T>A (p.Met1609Lys) c.5037T>A (p.His1679Gln) n.5068T>A c.5453T>A (p.Met1818Lys) c.5390T>A (p.Met1797Lys) c.5381T>A (p.Met1794Lys) c.4991T>A (p.Met1664Lys) c.4850T>A (p.Met1617Lys) c.5282T>A (p.Met1761Lys) | |
8 | g.41668449T>A | CA371051625 | ANK1 | c.5335A>T (p.Met1779Leu) c.5431A>T (p.Met1811Leu) c.5248A>T (p.Met1750Leu) c.5212A>T (p.Met1738Leu) c.1226A>T c.784A>T c.2690A>T n.2606A>T c.4726A>T (p.Met1576Leu) c.5476A>T (p.Met1826Leu) c.5377A>T (p.Met1793Leu) c.5311A>T (p.Met1771Leu) c.5293A>T (p.Met1765Leu) c.4945A>T (p.Met1649Leu) c.4825A>T (p.Met1609Leu) c.5036A>T (p.His1679Leu) n.5067A>T c.5452A>T (p.Met1818Leu) c.5389A>T (p.Met1797Leu) c.5380A>T (p.Met1794Leu) c.4990A>T (p.Met1664Leu) c.4849A>T (p.Met1617Leu) c.5281A>T (p.Met1761Leu) | |
8 | g.41668449T>C | CA371051627 | ANK1 | c.5335A>G (p.Met1779Val) c.5431A>G (p.Met1811Val) c.5248A>G (p.Met1750Val) c.5212A>G (p.Met1738Val) c.1226A>G c.784A>G c.2690A>G n.2606A>G c.4726A>G (p.Met1576Val) c.5476A>G (p.Met1826Val) c.5377A>G (p.Met1793Val) c.5311A>G (p.Met1771Val) c.5293A>G (p.Met1765Val) c.4945A>G (p.Met1649Val) c.4825A>G (p.Met1609Val) c.5036A>G (p.His1679Arg) n.5067A>G c.5452A>G (p.Met1818Val) c.5389A>G (p.Met1797Val) c.5380A>G (p.Met1794Val) c.4990A>G (p.Met1664Val) c.4849A>G (p.Met1617Val) c.5281A>G (p.Met1761Val) | gnomAD v4 |
8 | g.41668449T>G | CA371051629 | ANK1 | c.5335A>C (p.Met1779Leu) c.5431A>C (p.Met1811Leu) c.5248A>C (p.Met1750Leu) c.5212A>C (p.Met1738Leu) c.1226A>C c.784A>C c.2690A>C n.2606A>C c.4726A>C (p.Met1576Leu) c.5476A>C (p.Met1826Leu) c.5377A>C (p.Met1793Leu) c.5311A>C (p.Met1771Leu) c.5293A>C (p.Met1765Leu) c.4945A>C (p.Met1649Leu) c.4825A>C (p.Met1609Leu) c.5036A>C (p.His1679Pro) n.5067A>C c.5452A>C (p.Met1818Leu) c.5389A>C (p.Met1797Leu) c.5380A>C (p.Met1794Leu) c.4990A>C (p.Met1664Leu) c.4849A>C (p.Met1617Leu) c.5281A>C (p.Met1761Leu) | |
8 | g.41668450G>A | CA460782069 | ANK1 | c.5334C>T (p.Thr1778=) c.5430C>T (p.Thr1810=) c.5247C>T (p.Thr1749=) c.5211C>T (p.Thr1737=) c.1225C>T c.783C>T c.2689C>T n.2605C>T c.4725C>T (p.Thr1575=) c.5475C>T (p.Thr1825=) c.5376C>T (p.Thr1792=) c.5310C>T (p.Thr1770=) c.5292C>T (p.Thr1764=) c.4944C>T (p.Thr1648=) c.4824C>T (p.Thr1608=) c.5035C>T (p.His1679Tyr) n.5066C>T c.5451C>T (p.Thr1817=) c.5388C>T (p.Thr1796=) c.5379C>T (p.Thr1793=) c.4989C>T (p.Thr1663=) c.4848C>T (p.Thr1616=) c.5280C>T (p.Thr1760=) | gnomAD v4 |
8 | g.41668450G>C | CA460782070 | ANK1 | c.5334C>G (p.Thr1778=) c.5430C>G (p.Thr1810=) c.5247C>G (p.Thr1749=) c.5211C>G (p.Thr1737=) c.1225C>G c.783C>G c.2689C>G n.2605C>G c.4725C>G (p.Thr1575=) c.5475C>G (p.Thr1825=) c.5376C>G (p.Thr1792=) c.5310C>G (p.Thr1770=) c.5292C>G (p.Thr1764=) c.4944C>G (p.Thr1648=) c.4824C>G (p.Thr1608=) c.5035C>G (p.His1679Asp) n.5066C>G c.5451C>G (p.Thr1817=) c.5388C>G (p.Thr1796=) c.5379C>G (p.Thr1793=) c.4989C>G (p.Thr1663=) c.4848C>G (p.Thr1616=) c.5280C>G (p.Thr1760=) | |
8 | g.41668450G>T | CA460782071 | ANK1 | c.5334C>A (p.Thr1778=) c.5430C>A (p.Thr1810=) c.5247C>A (p.Thr1749=) c.5211C>A (p.Thr1737=) c.1225C>A c.783C>A c.2689C>A n.2605C>A c.4725C>A (p.Thr1575=) c.5475C>A (p.Thr1825=) c.5376C>A (p.Thr1792=) c.5310C>A (p.Thr1770=) c.5292C>A (p.Thr1764=) c.4944C>A (p.Thr1648=) c.4824C>A (p.Thr1608=) c.5035C>A (p.His1679Asn) n.5066C>A c.5451C>A (p.Thr1817=) c.5388C>A (p.Thr1796=) c.5379C>A (p.Thr1793=) c.4989C>A (p.Thr1663=) c.4848C>A (p.Thr1616=) c.5280C>A (p.Thr1760=) | |
8 | g.41668451G>A | CA371051632 | ANK1 | c.5333C>T (p.Thr1778Ile) c.5429C>T (p.Thr1810Ile) c.5246C>T (p.Thr1749Ile) c.5210C>T (p.Thr1737Ile) c.1224C>T c.782C>T c.2688C>T n.2604C>T c.4724C>T (p.Thr1575Ile) c.5474C>T (p.Thr1825Ile) c.5375C>T (p.Thr1792Ile) c.5309C>T (p.Thr1770Ile) c.5291C>T (p.Thr1764Ile) c.4943C>T (p.Thr1648Ile) c.4823C>T (p.Thr1608Ile) c.5034C>T (p.Tyr1678=) n.5065C>T c.5450C>T (p.Thr1817Ile) c.5387C>T (p.Thr1796Ile) c.5378C>T (p.Thr1793Ile) c.4988C>T (p.Thr1663Ile) c.4847C>T (p.Thr1616Ile) c.5279C>T (p.Thr1760Ile) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
8 | g.41668451G>C | CA371051633 | ANK1 | c.5333C>G (p.Thr1778Ser) c.5429C>G (p.Thr1810Ser) c.5246C>G (p.Thr1749Ser) c.5210C>G (p.Thr1737Ser) c.1224C>G c.782C>G c.2688C>G n.2604C>G c.4724C>G (p.Thr1575Ser) c.5474C>G (p.Thr1825Ser) c.5375C>G (p.Thr1792Ser) c.5309C>G (p.Thr1770Ser) c.5291C>G (p.Thr1764Ser) c.4943C>G (p.Thr1648Ser) c.4823C>G (p.Thr1608Ser) c.5034C>G (p.Tyr1678Ter) n.5065C>G c.5450C>G (p.Thr1817Ser) c.5387C>G (p.Thr1796Ser) c.5378C>G (p.Thr1793Ser) c.4988C>G (p.Thr1663Ser) c.4847C>G (p.Thr1616Ser) c.5279C>G (p.Thr1760Ser) | |
8 | g.41668451G= | CA1779071227 | ANK1 | c.5333C= (p.Thr1778=) c.5429C= (p.Thr1810=) c.5246C= (p.Thr1749=) c.5210C= (p.Thr1737=) c.1224C= c.782C= c.2688C= n.2604C= c.4724C= (p.Thr1575=) c.5474C= (p.Thr1825=) c.5375C= (p.Thr1792=) c.5309C= (p.Thr1770=) c.5291C= (p.Thr1764=) c.4943C= (p.Thr1648=) c.4823C= (p.Thr1608=) c.5034C= (p.Tyr1678=) n.5065C= c.5450C= (p.Thr1817=) c.5387C= (p.Thr1796=) c.5378C= (p.Thr1793=) c.4988C= (p.Thr1663=) c.4847C= (p.Thr1616=) c.5279C= (p.Thr1760=) | |
8 | g.41668451G>T | CA371051634 | ANK1 | c.5333C>A (p.Thr1778Asn) c.5429C>A (p.Thr1810Asn) c.5246C>A (p.Thr1749Asn) c.5210C>A (p.Thr1737Asn) c.1224C>A c.782C>A c.2688C>A n.2604C>A c.4724C>A (p.Thr1575Asn) c.5474C>A (p.Thr1825Asn) c.5375C>A (p.Thr1792Asn) c.5309C>A (p.Thr1770Asn) c.5291C>A (p.Thr1764Asn) c.4943C>A (p.Thr1648Asn) c.4823C>A (p.Thr1608Asn) c.5034C>A (p.Tyr1678Ter) n.5065C>A c.5450C>A (p.Thr1817Asn) c.5387C>A (p.Thr1796Asn) c.5378C>A (p.Thr1793Asn) c.4988C>A (p.Thr1663Asn) c.4847C>A (p.Thr1616Asn) c.5279C>A (p.Thr1760Asn) | |
8 | g.41668452T>A | CA371051637 | ANK1 | c.5332A>T (p.Thr1778Ser) c.5428A>T (p.Thr1810Ser) c.5245A>T (p.Thr1749Ser) c.5209A>T (p.Thr1737Ser) c.1223A>T c.781A>T c.2687A>T n.2603A>T c.4723A>T (p.Thr1575Ser) c.5473A>T (p.Thr1825Ser) c.5374A>T (p.Thr1792Ser) c.5308A>T (p.Thr1770Ser) c.5290A>T (p.Thr1764Ser) c.4942A>T (p.Thr1648Ser) c.4822A>T (p.Thr1608Ser) c.5033A>T (p.Tyr1678Phe) n.5064A>T c.5449A>T (p.Thr1817Ser) c.5386A>T (p.Thr1796Ser) c.5377A>T (p.Thr1793Ser) c.4987A>T (p.Thr1663Ser) c.4846A>T (p.Thr1616Ser) c.5278A>T (p.Thr1760Ser) | |
8 | g.41668452T>C | CA371051639 | ANK1 | c.5332A>G (p.Thr1778Ala) c.5428A>G (p.Thr1810Ala) c.5245A>G (p.Thr1749Ala) c.5209A>G (p.Thr1737Ala) c.1223A>G c.781A>G c.2687A>G n.2603A>G c.4723A>G (p.Thr1575Ala) c.5473A>G (p.Thr1825Ala) c.5374A>G (p.Thr1792Ala) c.5308A>G (p.Thr1770Ala) c.5290A>G (p.Thr1764Ala) c.4942A>G (p.Thr1648Ala) c.4822A>G (p.Thr1608Ala) c.5033A>G (p.Tyr1678Cys) n.5064A>G c.5449A>G (p.Thr1817Ala) c.5386A>G (p.Thr1796Ala) c.5377A>G (p.Thr1793Ala) c.4987A>G (p.Thr1663Ala) c.4846A>G (p.Thr1616Ala) c.5278A>G (p.Thr1760Ala) | gnomAD v4 |
8 | g.41668452T>G | CA371051641 | ANK1 | c.5332A>C (p.Thr1778Pro) c.5428A>C (p.Thr1810Pro) c.5245A>C (p.Thr1749Pro) c.5209A>C (p.Thr1737Pro) c.1223A>C c.781A>C c.2687A>C n.2603A>C c.4723A>C (p.Thr1575Pro) c.5473A>C (p.Thr1825Pro) c.5374A>C (p.Thr1792Pro) c.5308A>C (p.Thr1770Pro) c.5290A>C (p.Thr1764Pro) c.4942A>C (p.Thr1648Pro) c.4822A>C (p.Thr1608Pro) c.5033A>C (p.Tyr1678Ser) n.5064A>C c.5449A>C (p.Thr1817Pro) c.5386A>C (p.Thr1796Pro) c.5377A>C (p.Thr1793Pro) c.4987A>C (p.Thr1663Pro) c.4846A>C (p.Thr1616Pro) c.5278A>C (p.Thr1760Pro) | |
8 | g.41668453A= | CA1779071233 | ANK1 | c.5331T= (p.Ser1777=) c.5427T= (p.Ser1809=) c.5244T= (p.Ser1748=) c.5208T= (p.Ser1736=) c.1222T= c.780T= c.2686T= n.2602T= c.4722T= (p.Ser1574=) c.5472T= (p.Ser1824=) c.5373T= (p.Ser1791=) c.5307T= (p.Ser1769=) c.5289T= (p.Ser1763=) c.4941T= (p.Ser1647=) c.4821T= (p.Ser1607=) c.5032T= (p.Tyr1678=) n.5063T= c.5448T= (p.Ser1816=) c.5385T= (p.Ser1795=) c.5376T= (p.Ser1792=) c.4986T= (p.Ser1662=) c.4845T= (p.Ser1615=) c.5277T= (p.Ser1759=) | |
8 | g.41668453A>C | CA371051643 | ANK1 | c.5331T>G (p.Ser1777Arg) c.5427T>G (p.Ser1809Arg) c.5244T>G (p.Ser1748Arg) c.5208T>G (p.Ser1736Arg) c.1222T>G c.780T>G c.2686T>G n.2602T>G c.4722T>G (p.Ser1574Arg) c.5472T>G (p.Ser1824Arg) c.5373T>G (p.Ser1791Arg) c.5307T>G (p.Ser1769Arg) c.5289T>G (p.Ser1763Arg) c.4941T>G (p.Ser1647Arg) c.4821T>G (p.Ser1607Arg) c.5032T>G (p.Tyr1678Asp) n.5063T>G c.5448T>G (p.Ser1816Arg) c.5385T>G (p.Ser1795Arg) c.5376T>G (p.Ser1792Arg) c.4986T>G (p.Ser1662Arg) c.4845T>G (p.Ser1615Arg) c.5277T>G (p.Ser1759Arg) | gnomAD v4 |
8 | g.41668453A>G | CA460782072 | ANK1 | c.5331T>C (p.Ser1777=) c.5427T>C (p.Ser1809=) c.5244T>C (p.Ser1748=) c.5208T>C (p.Ser1736=) c.1222T>C c.780T>C c.2686T>C n.2602T>C c.4722T>C (p.Ser1574=) c.5472T>C (p.Ser1824=) c.5373T>C (p.Ser1791=) c.5307T>C (p.Ser1769=) c.5289T>C (p.Ser1763=) c.4941T>C (p.Ser1647=) c.4821T>C (p.Ser1607=) c.5032T>C (p.Tyr1678His) n.5063T>C c.5448T>C (p.Ser1816=) c.5385T>C (p.Ser1795=) c.5376T>C (p.Ser1792=) c.4986T>C (p.Ser1662=) c.4845T>C (p.Ser1615=) c.5277T>C (p.Ser1759=) | |
8 | g.41668453A>T | CA4727349 | ANK1 | c.5331T>A (p.Ser1777Arg) c.5427T>A (p.Ser1809Arg) c.5244T>A (p.Ser1748Arg) c.5208T>A (p.Ser1736Arg) c.1222T>A c.780T>A c.2686T>A n.2602T>A c.4722T>A (p.Ser1574Arg) c.5472T>A (p.Ser1824Arg) c.5373T>A (p.Ser1791Arg) c.5307T>A (p.Ser1769Arg) c.5289T>A (p.Ser1763Arg) c.4941T>A (p.Ser1647Arg) c.4821T>A (p.Ser1607Arg) c.5032T>A (p.Tyr1678Asn) n.5063T>A c.5448T>A (p.Ser1816Arg) c.5385T>A (p.Ser1795Arg) c.5376T>A (p.Ser1792Arg) c.4986T>A (p.Ser1662Arg) c.4845T>A (p.Ser1615Arg) c.5277T>A (p.Ser1759Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.41668454C>A | CA4727350 | ANK1 | c.5330G>T (p.Ser1777Ile) c.5426G>T (p.Ser1809Ile) c.5243G>T (p.Ser1748Ile) c.5207G>T (p.Ser1736Ile) c.1221G>T c.779G>T c.2685G>T n.2601G>T c.4721G>T (p.Ser1574Ile) c.5471G>T (p.Ser1824Ile) c.5372G>T (p.Ser1791Ile) c.5306G>T (p.Ser1769Ile) c.5288G>T (p.Ser1763Ile) c.4940G>T (p.Ser1647Ile) c.4820G>T (p.Ser1607Ile) c.5031G>T (p.Lys1677Asn) n.5062G>T c.5447G>T (p.Ser1816Ile) c.5384G>T (p.Ser1795Ile) c.5375G>T (p.Ser1792Ile) c.4985G>T (p.Ser1662Ile) c.4844G>T (p.Ser1615Ile) c.5276G>T (p.Ser1759Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.41668454C= | CA1779071239 | ANK1 | c.5330G= (p.Ser1777=) c.5426G= (p.Ser1809=) c.5243G= (p.Ser1748=) c.5207G= (p.Ser1736=) c.1221G= c.779G= c.2685G= n.2601G= c.4721G= (p.Ser1574=) c.5471G= (p.Ser1824=) c.5372G= (p.Ser1791=) c.5306G= (p.Ser1769=) c.5288G= (p.Ser1763=) c.4940G= (p.Ser1647=) c.4820G= (p.Ser1607=) c.5031G= (p.Lys1677=) n.5062G= c.5447G= (p.Ser1816=) c.5384G= (p.Ser1795=) c.5375G= (p.Ser1792=) c.4985G= (p.Ser1662=) c.4844G= (p.Ser1615=) c.5276G= (p.Ser1759=) | |
8 | g.41668454C>G | CA371051648 | ANK1 | c.5330G>C (p.Ser1777Thr) c.5426G>C (p.Ser1809Thr) c.5243G>C (p.Ser1748Thr) c.5207G>C (p.Ser1736Thr) c.1221G>C c.779G>C c.2685G>C n.2601G>C c.4721G>C (p.Ser1574Thr) c.5471G>C (p.Ser1824Thr) c.5372G>C (p.Ser1791Thr) c.5306G>C (p.Ser1769Thr) c.5288G>C (p.Ser1763Thr) c.4940G>C (p.Ser1647Thr) c.4820G>C (p.Ser1607Thr) c.5031G>C (p.Lys1677Asn) n.5062G>C c.5447G>C (p.Ser1816Thr) c.5384G>C (p.Ser1795Thr) c.5375G>C (p.Ser1792Thr) c.4985G>C (p.Ser1662Thr) c.4844G>C (p.Ser1615Thr) c.5276G>C (p.Ser1759Thr) | |
8 | g.41668454C>T | CA371051646 | ANK1 | c.5330G>A (p.Ser1777Asn) c.5426G>A (p.Ser1809Asn) c.5243G>A (p.Ser1748Asn) c.5207G>A (p.Ser1736Asn) c.1221G>A c.779G>A c.2685G>A n.2601G>A c.4721G>A (p.Ser1574Asn) c.5471G>A (p.Ser1824Asn) c.5372G>A (p.Ser1791Asn) c.5306G>A (p.Ser1769Asn) c.5288G>A (p.Ser1763Asn) c.4940G>A (p.Ser1647Asn) c.4820G>A (p.Ser1607Asn) c.5031G>A (p.Lys1677=) n.5062G>A c.5447G>A (p.Ser1816Asn) c.5384G>A (p.Ser1795Asn) c.5375G>A (p.Ser1792Asn) c.4985G>A (p.Ser1662Asn) c.4844G>A (p.Ser1615Asn) c.5276G>A (p.Ser1759Asn) | dbSNP |
8 | g.41668455T>A | CA371051651 | ANK1 | c.5329A>T (p.Ser1777Cys) c.5425A>T (p.Ser1809Cys) c.5242A>T (p.Ser1748Cys) c.5206A>T (p.Ser1736Cys) c.1220A>T c.778A>T c.2684A>T n.2600A>T c.4720A>T (p.Ser1574Cys) c.5470A>T (p.Ser1824Cys) c.5371A>T (p.Ser1791Cys) c.5305A>T (p.Ser1769Cys) c.5287A>T (p.Ser1763Cys) c.4939A>T (p.Ser1647Cys) c.4819A>T (p.Ser1607Cys) c.5030A>T (p.Lys1677Met) n.5061A>T c.5446A>T (p.Ser1816Cys) c.5383A>T (p.Ser1795Cys) c.5374A>T (p.Ser1792Cys) c.4984A>T (p.Ser1662Cys) c.4843A>T (p.Ser1615Cys) c.5275A>T (p.Ser1759Cys) | |
8 | g.41668455T>C | CA371051653 | ANK1 | c.5329A>G (p.Ser1777Gly) c.5425A>G (p.Ser1809Gly) c.5242A>G (p.Ser1748Gly) c.5206A>G (p.Ser1736Gly) c.1220A>G c.778A>G c.2684A>G n.2600A>G c.4720A>G (p.Ser1574Gly) c.5470A>G (p.Ser1824Gly) c.5371A>G (p.Ser1791Gly) c.5305A>G (p.Ser1769Gly) c.5287A>G (p.Ser1763Gly) c.4939A>G (p.Ser1647Gly) c.4819A>G (p.Ser1607Gly) c.5030A>G (p.Lys1677Arg) n.5061A>G c.5446A>G (p.Ser1816Gly) c.5383A>G (p.Ser1795Gly) c.5374A>G (p.Ser1792Gly) c.4984A>G (p.Ser1662Gly) c.4843A>G (p.Ser1615Gly) c.5275A>G (p.Ser1759Gly) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.41668455T>G | CA371051655 | ANK1 | c.5329A>C (p.Ser1777Arg) c.5425A>C (p.Ser1809Arg) c.5242A>C (p.Ser1748Arg) c.5206A>C (p.Ser1736Arg) c.1220A>C c.778A>C c.2684A>C n.2600A>C c.4720A>C (p.Ser1574Arg) c.5470A>C (p.Ser1824Arg) c.5371A>C (p.Ser1791Arg) c.5305A>C (p.Ser1769Arg) c.5287A>C (p.Ser1763Arg) c.4939A>C (p.Ser1647Arg) c.4819A>C (p.Ser1607Arg) c.5030A>C (p.Lys1677Thr) n.5061A>C c.5446A>C (p.Ser1816Arg) c.5383A>C (p.Ser1795Arg) c.5374A>C (p.Ser1792Arg) c.4984A>C (p.Ser1662Arg) c.4843A>C (p.Ser1615Arg) c.5275A>C (p.Ser1759Arg) | gnomAD v4 |
8 | g.41668455T= | CA1779071242 | ANK1 | c.5329A= (p.Ser1777=) c.5425A= (p.Ser1809=) c.5242A= (p.Ser1748=) c.5206A= (p.Ser1736=) c.1220A= c.778A= c.2684A= n.2600A= c.4720A= (p.Ser1574=) c.5470A= (p.Ser1824=) c.5371A= (p.Ser1791=) c.5305A= (p.Ser1769=) c.5287A= (p.Ser1763=) c.4939A= (p.Ser1647=) c.4819A= (p.Ser1607=) c.5030A= (p.Lys1677=) n.5061A= c.5446A= (p.Ser1816=) c.5383A= (p.Ser1795=) c.5374A= (p.Ser1792=) c.4984A= (p.Ser1662=) c.4843A= (p.Ser1615=) c.5275A= (p.Ser1759=) | |
8 | g.41668456T>A | CA460782073 | ANK1 | c.5328A>T (p.Thr1776=) c.5424A>T (p.Thr1808=) c.5241A>T (p.Thr1747=) c.5205A>T (p.Thr1735=) c.1219A>T c.777A>T c.2683A>T n.2599A>T c.4719A>T (p.Thr1573=) c.5469A>T (p.Thr1823=) c.5370A>T (p.Thr1790=) c.5304A>T (p.Thr1768=) c.5286A>T (p.Thr1762=) c.4938A>T (p.Thr1646=) c.4818A>T (p.Thr1606=) c.5029A>T (p.Lys1677Ter) n.5060A>T c.5445A>T (p.Thr1815=) c.5382A>T (p.Thr1794=) c.5373A>T (p.Thr1791=) c.4983A>T (p.Thr1661=) c.4842A>T (p.Thr1614=) c.5274A>T (p.Thr1758=) | |
8 | g.41668456T>C | CA460782074 | ANK1 | c.5328A>G (p.Thr1776=) c.5424A>G (p.Thr1808=) c.5241A>G (p.Thr1747=) c.5205A>G (p.Thr1735=) c.1219A>G c.777A>G c.2683A>G n.2599A>G c.4719A>G (p.Thr1573=) c.5469A>G (p.Thr1823=) c.5370A>G (p.Thr1790=) c.5304A>G (p.Thr1768=) c.5286A>G (p.Thr1762=) c.4938A>G (p.Thr1646=) c.4818A>G (p.Thr1606=) c.5029A>G (p.Lys1677Glu) n.5060A>G c.5445A>G (p.Thr1815=) c.5382A>G (p.Thr1794=) c.5373A>G (p.Thr1791=) c.4983A>G (p.Thr1661=) c.4842A>G (p.Thr1614=) c.5274A>G (p.Thr1758=) | dbSNP |
8 | g.41668456T>G | CA460782075 | ANK1 | c.5328A>C (p.Thr1776=) c.5424A>C (p.Thr1808=) c.5241A>C (p.Thr1747=) c.5205A>C (p.Thr1735=) c.1219A>C c.777A>C c.2683A>C n.2599A>C c.4719A>C (p.Thr1573=) c.5469A>C (p.Thr1823=) c.5370A>C (p.Thr1790=) c.5304A>C (p.Thr1768=) c.5286A>C (p.Thr1762=) c.4938A>C (p.Thr1646=) c.4818A>C (p.Thr1606=) c.5029A>C (p.Lys1677Gln) n.5060A>C c.5445A>C (p.Thr1815=) c.5382A>C (p.Thr1794=) c.5373A>C (p.Thr1791=) c.4983A>C (p.Thr1661=) c.4842A>C (p.Thr1614=) c.5274A>C (p.Thr1758=) | |
8 | g.41668456T= | CA1779071245 | ANK1 | c.5328A= (p.Thr1776=) c.5424A= (p.Thr1808=) c.5241A= (p.Thr1747=) c.5205A= (p.Thr1735=) c.1219A= c.777A= c.2683A= n.2599A= c.4719A= (p.Thr1573=) c.5469A= (p.Thr1823=) c.5370A= (p.Thr1790=) c.5304A= (p.Thr1768=) c.5286A= (p.Thr1762=) c.4938A= (p.Thr1646=) c.4818A= (p.Thr1606=) c.5029A= (p.Lys1677=) n.5060A= c.5445A= (p.Thr1815=) c.5382A= (p.Thr1794=) c.5373A= (p.Thr1791=) c.4983A= (p.Thr1661=) c.4842A= (p.Thr1614=) c.5274A= (p.Thr1758=) | |
8 | g.41668457G>A | CA4727351 | ANK1 | c.5327C>T (p.Thr1776Ile) c.5423C>T (p.Thr1808Ile) c.5240C>T (p.Thr1747Ile) c.5204C>T (p.Thr1735Ile) c.1218C>T c.776C>T c.2682C>T n.2598C>T c.4718C>T (p.Thr1573Ile) c.5468C>T (p.Thr1823Ile) c.5369C>T (p.Thr1790Ile) c.5303C>T (p.Thr1768Ile) c.5285C>T (p.Thr1762Ile) c.4937C>T (p.Thr1646Ile) c.4817C>T (p.Thr1606Ile) c.5028C>T (p.Asn1676=) n.5059C>T c.5444C>T (p.Thr1815Ile) c.5381C>T (p.Thr1794Ile) c.5372C>T (p.Thr1791Ile) c.4982C>T (p.Thr1661Ile) c.4841C>T (p.Thr1614Ile) c.5273C>T (p.Thr1758Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.41668457G>C | CA371051659 | ANK1 | c.5327C>G (p.Thr1776Arg) c.5423C>G (p.Thr1808Arg) c.5240C>G (p.Thr1747Arg) c.5204C>G (p.Thr1735Arg) c.1218C>G c.776C>G c.2682C>G n.2598C>G c.4718C>G (p.Thr1573Arg) c.5468C>G (p.Thr1823Arg) c.5369C>G (p.Thr1790Arg) c.5303C>G (p.Thr1768Arg) c.5285C>G (p.Thr1762Arg) c.4937C>G (p.Thr1646Arg) c.4817C>G (p.Thr1606Arg) c.5028C>G (p.Asn1676Lys) n.5059C>G c.5444C>G (p.Thr1815Arg) c.5381C>G (p.Thr1794Arg) c.5372C>G (p.Thr1791Arg) c.4982C>G (p.Thr1661Arg) c.4841C>G (p.Thr1614Arg) c.5273C>G (p.Thr1758Arg) | |
8 | g.41668457G= | CA1779071246 | ANK1 | c.5327C= (p.Thr1776=) c.5423C= (p.Thr1808=) c.5240C= (p.Thr1747=) c.5204C= (p.Thr1735=) c.1218C= c.776C= c.2682C= n.2598C= c.4718C= (p.Thr1573=) c.5468C= (p.Thr1823=) c.5369C= (p.Thr1790=) c.5303C= (p.Thr1768=) c.5285C= (p.Thr1762=) c.4937C= (p.Thr1646=) c.4817C= (p.Thr1606=) c.5028C= (p.Asn1676=) n.5059C= c.5444C= (p.Thr1815=) c.5381C= (p.Thr1794=) c.5372C= (p.Thr1791=) c.4982C= (p.Thr1661=) c.4841C= (p.Thr1614=) c.5273C= (p.Thr1758=) | |
8 | g.41668457G>T | CA371051661 | ANK1 | c.5327C>A (p.Thr1776Lys) c.5423C>A (p.Thr1808Lys) c.5240C>A (p.Thr1747Lys) c.5204C>A (p.Thr1735Lys) c.1218C>A c.776C>A c.2682C>A n.2598C>A c.4718C>A (p.Thr1573Lys) c.5468C>A (p.Thr1823Lys) c.5369C>A (p.Thr1790Lys) c.5303C>A (p.Thr1768Lys) c.5285C>A (p.Thr1762Lys) c.4937C>A (p.Thr1646Lys) c.4817C>A (p.Thr1606Lys) c.5028C>A (p.Asn1676Lys) n.5059C>A c.5444C>A (p.Thr1815Lys) c.5381C>A (p.Thr1794Lys) c.5372C>A (p.Thr1791Lys) c.4982C>A (p.Thr1661Lys) c.4841C>A (p.Thr1614Lys) c.5273C>A (p.Thr1758Lys) | |
8 | g.41668458T>A | CA371051664 | ANK1 | c.5326A>T (p.Thr1776Ser) c.5422A>T (p.Thr1808Ser) c.5239A>T (p.Thr1747Ser) c.5203A>T (p.Thr1735Ser) c.1217A>T c.775A>T c.2681A>T n.2597A>T c.4717A>T (p.Thr1573Ser) c.5467A>T (p.Thr1823Ser) c.5368A>T (p.Thr1790Ser) c.5302A>T (p.Thr1768Ser) c.5284A>T (p.Thr1762Ser) c.4936A>T (p.Thr1646Ser) c.4816A>T (p.Thr1606Ser) c.5027A>T (p.Asn1676Ile) n.5058A>T c.5443A>T (p.Thr1815Ser) c.5380A>T (p.Thr1794Ser) c.5371A>T (p.Thr1791Ser) c.4981A>T (p.Thr1661Ser) c.4840A>T (p.Thr1614Ser) c.5272A>T (p.Thr1758Ser) | |
8 | g.41668458T>C | CA371051665 | ANK1 | c.5326A>G (p.Thr1776Ala) c.5422A>G (p.Thr1808Ala) c.5239A>G (p.Thr1747Ala) c.5203A>G (p.Thr1735Ala) c.1217A>G c.775A>G c.2681A>G n.2597A>G c.4717A>G (p.Thr1573Ala) c.5467A>G (p.Thr1823Ala) c.5368A>G (p.Thr1790Ala) c.5302A>G (p.Thr1768Ala) c.5284A>G (p.Thr1762Ala) c.4936A>G (p.Thr1646Ala) c.4816A>G (p.Thr1606Ala) c.5027A>G (p.Asn1676Ser) n.5058A>G c.5443A>G (p.Thr1815Ala) c.5380A>G (p.Thr1794Ala) c.5371A>G (p.Thr1791Ala) c.4981A>G (p.Thr1661Ala) c.4840A>G (p.Thr1614Ala) c.5272A>G (p.Thr1758Ala) | gnomAD v4 |
8 | g.41668458T>G | CA371051667 | ANK1 | c.5326A>C (p.Thr1776Pro) c.5422A>C (p.Thr1808Pro) c.5239A>C (p.Thr1747Pro) c.5203A>C (p.Thr1735Pro) c.1217A>C c.775A>C c.2681A>C n.2597A>C c.4717A>C (p.Thr1573Pro) c.5467A>C (p.Thr1823Pro) c.5368A>C (p.Thr1790Pro) c.5302A>C (p.Thr1768Pro) c.5284A>C (p.Thr1762Pro) c.4936A>C (p.Thr1646Pro) c.4816A>C (p.Thr1606Pro) c.5027A>C (p.Asn1676Thr) n.5058A>C c.5443A>C (p.Thr1815Pro) c.5380A>C (p.Thr1794Pro) c.5371A>C (p.Thr1791Pro) c.4981A>C (p.Thr1661Pro) c.4840A>C (p.Thr1614Pro) c.5272A>C (p.Thr1758Pro) | |
8 | g.41668459T>A | CA460782078 | ANK1 | c.5325A>T (p.Gly1775=) c.5421A>T (p.Gly1807=) c.5238A>T (p.Gly1746=) c.5202A>T (p.Gly1734=) c.1216A>T c.774A>T c.2680A>T n.2596A>T c.4716A>T (p.Gly1572=) c.5466A>T (p.Gly1822=) c.5367A>T (p.Gly1789=) c.5301A>T (p.Gly1767=) c.5283A>T (p.Gly1761=) c.4935A>T (p.Gly1645=) c.4815A>T (p.Gly1605=) c.5026A>T (p.Asn1676Tyr) n.5057A>T c.5442A>T (p.Gly1814=) c.5379A>T (p.Gly1793=) c.5370A>T (p.Gly1790=) c.4980A>T (p.Gly1660=) c.4839A>T (p.Gly1613=) c.5271A>T (p.Gly1757=) | |
8 | g.41668459T>C | CA460782076 | ANK1 | c.5325A>G (p.Gly1775=) c.5421A>G (p.Gly1807=) c.5238A>G (p.Gly1746=) c.5202A>G (p.Gly1734=) c.1216A>G c.774A>G c.2680A>G n.2596A>G c.4716A>G (p.Gly1572=) c.5466A>G (p.Gly1822=) c.5367A>G (p.Gly1789=) c.5301A>G (p.Gly1767=) c.5283A>G (p.Gly1761=) c.4935A>G (p.Gly1645=) c.4815A>G (p.Gly1605=) c.5026A>G (p.Asn1676Asp) n.5057A>G c.5442A>G (p.Gly1814=) c.5379A>G (p.Gly1793=) c.5370A>G (p.Gly1790=) c.4980A>G (p.Gly1660=) c.4839A>G (p.Gly1613=) c.5271A>G (p.Gly1757=) | |
8 | g.41668459T>G | CA460782077 | ANK1 | c.5325A>C (p.Gly1775=) c.5421A>C (p.Gly1807=) c.5238A>C (p.Gly1746=) c.5202A>C (p.Gly1734=) c.1216A>C c.774A>C c.2680A>C n.2596A>C c.4716A>C (p.Gly1572=) c.5466A>C (p.Gly1822=) c.5367A>C (p.Gly1789=) c.5301A>C (p.Gly1767=) c.5283A>C (p.Gly1761=) c.4935A>C (p.Gly1645=) c.4815A>C (p.Gly1605=) c.5026A>C (p.Asn1676His) n.5057A>C c.5442A>C (p.Gly1814=) c.5379A>C (p.Gly1793=) c.5370A>C (p.Gly1790=) c.4980A>C (p.Gly1660=) c.4839A>C (p.Gly1613=) c.5271A>C (p.Gly1757=) | |
8 | g.41668460C>A | CA371051670 | ANK1 | c.5324G>T (p.Gly1775Val) c.5420G>T (p.Gly1807Val) c.5237G>T (p.Gly1746Val) c.5201G>T (p.Gly1734Val) c.1215G>T c.773G>T c.2679G>T n.2595G>T c.4715G>T (p.Gly1572Val) c.5465G>T (p.Gly1822Val) c.5366G>T (p.Gly1789Val) c.5300G>T (p.Gly1767Val) c.5282G>T (p.Gly1761Val) c.4934G>T (p.Gly1645Val) c.4814G>T (p.Gly1605Val) c.5025G>T (p.Gly1675=) n.5056G>T c.5441G>T (p.Gly1814Val) c.5378G>T (p.Gly1793Val) c.5369G>T (p.Gly1790Val) c.4979G>T (p.Gly1660Val) c.4838G>T (p.Gly1613Val) c.5270G>T (p.Gly1757Val) | |
8 | g.41668460C>G | CA371051671 | ANK1 | c.5324G>C (p.Gly1775Ala) c.5420G>C (p.Gly1807Ala) c.5237G>C (p.Gly1746Ala) c.5201G>C (p.Gly1734Ala) c.1215G>C c.773G>C c.2679G>C n.2595G>C c.4715G>C (p.Gly1572Ala) c.5465G>C (p.Gly1822Ala) c.5366G>C (p.Gly1789Ala) c.5300G>C (p.Gly1767Ala) c.5282G>C (p.Gly1761Ala) c.4934G>C (p.Gly1645Ala) c.4814G>C (p.Gly1605Ala) c.5025G>C (p.Gly1675=) n.5056G>C c.5441G>C (p.Gly1814Ala) c.5378G>C (p.Gly1793Ala) c.5369G>C (p.Gly1790Ala) c.4979G>C (p.Gly1660Ala) c.4838G>C (p.Gly1613Ala) c.5270G>C (p.Gly1757Ala) | |
8 | g.41668460C>T | CA371051673 | ANK1 | c.5324G>A (p.Gly1775Glu) c.5420G>A (p.Gly1807Glu) c.5237G>A (p.Gly1746Glu) c.5201G>A (p.Gly1734Glu) c.1215G>A c.773G>A c.2679G>A n.2595G>A c.4715G>A (p.Gly1572Glu) c.5465G>A (p.Gly1822Glu) c.5366G>A (p.Gly1789Glu) c.5300G>A (p.Gly1767Glu) c.5282G>A (p.Gly1761Glu) c.4934G>A (p.Gly1645Glu) c.4814G>A (p.Gly1605Glu) c.5025G>A (p.Gly1675=) n.5056G>A c.5441G>A (p.Gly1814Glu) c.5378G>A (p.Gly1793Glu) c.5369G>A (p.Gly1790Glu) c.4979G>A (p.Gly1660Glu) c.4838G>A (p.Gly1613Glu) c.5270G>A (p.Gly1757Glu) | |
8 | g.41668460_41668461insTGAC | CA2695209201 | ANK1 | c.5324_5325insTCAG (p.Thr1776GlnfsTer7) c.5420_5421insTCAG (p.Thr1808GlnfsTer7) c.5237_5238insTCAG (p.Thr1747GlnfsTer7) c.5201_5202insTCAG (p.Thr1735GlnfsTer7) c.1215_1216insTCAG c.773_774insTCAG c.2679_2680insTCAG n.2595_2596insTCAG c.4715_4716insTCAG (p.Thr1573GlnfsTer7) c.5465_5466insTCAG (p.Thr1823GlnfsTer7) c.5366_5367insTCAG (p.Thr1790GlnfsTer7) c.5300_5301insTCAG (p.Thr1768GlnfsTer7) c.5282_5283insTCAG (p.Thr1762GlnfsTer7) c.4934_4935insTCAG (p.Thr1646GlnfsTer7) c.4814_4815insTCAG (p.Thr1606GlnfsTer7) c.5025_5026insTCAG (p.Asn1676SerfsTer6) n.5056_5057insTCAG c.5441_5442insTCAG (p.Thr1815GlnfsTer7) c.5378_5379insTCAG (p.Thr1794GlnfsTer7) c.5369_5370insTCAG (p.Thr1791GlnfsTer7) c.4979_4980insTCAG (p.Thr1661GlnfsTer7) c.4838_4839insTCAG (p.Thr1614GlnfsTer7) c.5270_5271insTCAG (p.Thr1758GlnfsTer7) | |
8 | g.41668461C>A | CA371051679 | ANK1 | c.5323G>T (p.Gly1775Ter) c.5419G>T (p.Gly1807Ter) c.5236G>T (p.Gly1746Ter) c.5200G>T (p.Gly1734Ter) c.1214G>T c.772G>T c.2678G>T n.2594G>T c.4714G>T (p.Gly1572Ter) c.5464G>T (p.Gly1822Ter) c.5365G>T (p.Gly1789Ter) c.5299G>T (p.Gly1767Ter) c.5281G>T (p.Gly1761Ter) c.4933G>T (p.Gly1645Ter) c.4813G>T (p.Gly1605Ter) c.5024G>T (p.Gly1675Val) n.5055G>T c.5440G>T (p.Gly1814Ter) c.5377G>T (p.Gly1793Ter) c.5368G>T (p.Gly1790Ter) c.4978G>T (p.Gly1660Ter) c.4837G>T (p.Gly1613Ter) c.5269G>T (p.Gly1757Ter) | |
8 | g.41668461C= | CA1779071250 | ANK1 | c.5323G= (p.Gly1775=) c.5419G= (p.Gly1807=) c.5236G= (p.Gly1746=) c.5200G= (p.Gly1734=) c.1214G= c.772G= c.2678G= n.2594G= c.4714G= (p.Gly1572=) c.5464G= (p.Gly1822=) c.5365G= (p.Gly1789=) c.5299G= (p.Gly1767=) c.5281G= (p.Gly1761=) c.4933G= (p.Gly1645=) c.4813G= (p.Gly1605=) c.5024G= (p.Gly1675=) n.5055G= c.5440G= (p.Gly1814=) c.5377G= (p.Gly1793=) c.5368G= (p.Gly1790=) c.4978G= (p.Gly1660=) c.4837G= (p.Gly1613=) c.5269G= (p.Gly1757=) | |
8 | g.41668461C>G | CA371051677 | ANK1 | c.5323G>C (p.Gly1775Arg) c.5419G>C (p.Gly1807Arg) c.5236G>C (p.Gly1746Arg) c.5200G>C (p.Gly1734Arg) c.1214G>C c.772G>C c.2678G>C n.2594G>C c.4714G>C (p.Gly1572Arg) c.5464G>C (p.Gly1822Arg) c.5365G>C (p.Gly1789Arg) c.5299G>C (p.Gly1767Arg) c.5281G>C (p.Gly1761Arg) c.4933G>C (p.Gly1645Arg) c.4813G>C (p.Gly1605Arg) c.5024G>C (p.Gly1675Ala) n.5055G>C c.5440G>C (p.Gly1814Arg) c.5377G>C (p.Gly1793Arg) c.5368G>C (p.Gly1790Arg) c.4978G>C (p.Gly1660Arg) c.4837G>C (p.Gly1613Arg) c.5269G>C (p.Gly1757Arg) | |
8 | g.41668461C>T | CA371051676 | ANK1 | c.5323G>A (p.Gly1775Arg) c.5419G>A (p.Gly1807Arg) c.5236G>A (p.Gly1746Arg) c.5200G>A (p.Gly1734Arg) c.1214G>A c.772G>A c.2678G>A n.2594G>A c.4714G>A (p.Gly1572Arg) c.5464G>A (p.Gly1822Arg) c.5365G>A (p.Gly1789Arg) c.5299G>A (p.Gly1767Arg) c.5281G>A (p.Gly1761Arg) c.4933G>A (p.Gly1645Arg) c.4813G>A (p.Gly1605Arg) c.5024G>A (p.Gly1675Glu) n.5055G>A c.5440G>A (p.Gly1814Arg) c.5377G>A (p.Gly1793Arg) c.5368G>A (p.Gly1790Arg) c.4978G>A (p.Gly1660Arg) c.4837G>A (p.Gly1613Arg) c.5269G>A (p.Gly1757Arg) | dbSNP gnomAD v4 |
8 | g.41668462C>A | CA371051683 | ANK1 | c.5322G>T (p.Gln1774His) c.5418G>T (p.Gln1806His) c.5235G>T (p.Gln1745His) c.5199G>T (p.Gln1733His) c.1213G>T c.771G>T c.2677G>T n.2593G>T c.4713G>T (p.Gln1571His) c.5463G>T (p.Gln1821His) c.5364G>T (p.Gln1788His) c.5298G>T (p.Gln1766His) c.5280G>T (p.Gln1760His) c.4932G>T (p.Gln1644His) c.4812G>T (p.Gln1604His) c.5023G>T (p.Gly1675Trp) n.5054G>T c.5439G>T (p.Gln1813His) c.5376G>T (p.Gln1792His) c.5367G>T (p.Gln1789His) c.4977G>T (p.Gln1659His) c.4836G>T (p.Gln1612His) c.5268G>T (p.Gln1756His) | |
8 | g.41668462C>G | CA371051682 | ANK1 | c.5322G>C (p.Gln1774His) c.5418G>C (p.Gln1806His) c.5235G>C (p.Gln1745His) c.5199G>C (p.Gln1733His) c.1213G>C c.771G>C c.2677G>C n.2593G>C c.4713G>C (p.Gln1571His) c.5463G>C (p.Gln1821His) c.5364G>C (p.Gln1788His) c.5298G>C (p.Gln1766His) c.5280G>C (p.Gln1760His) c.4932G>C (p.Gln1644His) c.4812G>C (p.Gln1604His) c.5023G>C (p.Gly1675Arg) n.5054G>C c.5439G>C (p.Gln1813His) c.5376G>C (p.Gln1792His) c.5367G>C (p.Gln1789His) c.4977G>C (p.Gln1659His) c.4836G>C (p.Gln1612His) c.5268G>C (p.Gln1756His) | |
8 | g.41668462C>T | CA460782079 | ANK1 | c.5322G>A (p.Gln1774=) c.5418G>A (p.Gln1806=) c.5235G>A (p.Gln1745=) c.5199G>A (p.Gln1733=) c.1213G>A c.771G>A c.2677G>A n.2593G>A c.4713G>A (p.Gln1571=) c.5463G>A (p.Gln1821=) c.5364G>A (p.Gln1788=) c.5298G>A (p.Gln1766=) c.5280G>A (p.Gln1760=) c.4932G>A (p.Gln1644=) c.4812G>A (p.Gln1604=) c.5023G>A (p.Gly1675Arg) n.5054G>A c.5439G>A (p.Gln1813=) c.5376G>A (p.Gln1792=) c.5367G>A (p.Gln1789=) c.4977G>A (p.Gln1659=) c.4836G>A (p.Gln1612=) c.5268G>A (p.Gln1756=) | |
8 | g.41668463T>A | CA371051689 | ANK1 | c.5321A>T (p.Gln1774Leu) c.5417A>T (p.Gln1806Leu) c.5234A>T (p.Gln1745Leu) c.5198A>T (p.Gln1733Leu) c.1212A>T c.770A>T c.2676A>T n.2592A>T c.4712A>T (p.Gln1571Leu) c.5462A>T (p.Gln1821Leu) c.5363A>T (p.Gln1788Leu) c.5297A>T (p.Gln1766Leu) c.5279A>T (p.Gln1760Leu) c.4931A>T (p.Gln1644Leu) c.4811A>T (p.Gln1604Leu) c.5022A>T (p.Pro1674=) n.5053A>T c.5438A>T (p.Gln1813Leu) c.5375A>T (p.Gln1792Leu) c.5366A>T (p.Gln1789Leu) c.4976A>T (p.Gln1659Leu) c.4835A>T (p.Gln1612Leu) c.5267A>T (p.Gln1756Leu) | |
8 | g.41668463T>C | CA371051686 | ANK1 | c.5321A>G (p.Gln1774Arg) c.5417A>G (p.Gln1806Arg) c.5234A>G (p.Gln1745Arg) c.5198A>G (p.Gln1733Arg) c.1212A>G c.770A>G c.2676A>G n.2592A>G c.4712A>G (p.Gln1571Arg) c.5462A>G (p.Gln1821Arg) c.5363A>G (p.Gln1788Arg) c.5297A>G (p.Gln1766Arg) c.5279A>G (p.Gln1760Arg) c.4931A>G (p.Gln1644Arg) c.4811A>G (p.Gln1604Arg) c.5022A>G (p.Pro1674=) n.5053A>G c.5438A>G (p.Gln1813Arg) c.5375A>G (p.Gln1792Arg) c.5366A>G (p.Gln1789Arg) c.4976A>G (p.Gln1659Arg) c.4835A>G (p.Gln1612Arg) c.5267A>G (p.Gln1756Arg) | gnomAD v4 |
8 | g.41668463T>G | CA371051688 | ANK1 | c.5321A>C (p.Gln1774Pro) c.5417A>C (p.Gln1806Pro) c.5234A>C (p.Gln1745Pro) c.5198A>C (p.Gln1733Pro) c.1212A>C c.770A>C c.2676A>C n.2592A>C c.4712A>C (p.Gln1571Pro) c.5462A>C (p.Gln1821Pro) c.5363A>C (p.Gln1788Pro) c.5297A>C (p.Gln1766Pro) c.5279A>C (p.Gln1760Pro) c.4931A>C (p.Gln1644Pro) c.4811A>C (p.Gln1604Pro) c.5022A>C (p.Pro1674=) n.5053A>C c.5438A>C (p.Gln1813Pro) c.5375A>C (p.Gln1792Pro) c.5366A>C (p.Gln1789Pro) c.4976A>C (p.Gln1659Pro) c.4835A>C (p.Gln1612Pro) c.5267A>C (p.Gln1756Pro) | dbSNP |
8 | g.41668463T= | CA1779071254 | ANK1 | c.5321A= (p.Gln1774=) c.5417A= (p.Gln1806=) c.5234A= (p.Gln1745=) c.5198A= (p.Gln1733=) c.1212A= c.770A= c.2676A= n.2592A= c.4712A= (p.Gln1571=) c.5462A= (p.Gln1821=) c.5363A= (p.Gln1788=) c.5297A= (p.Gln1766=) c.5279A= (p.Gln1760=) c.4931A= (p.Gln1644=) c.4811A= (p.Gln1604=) c.5022A= (p.Pro1674=) n.5053A= c.5438A= (p.Gln1813=) c.5375A= (p.Gln1792=) c.5366A= (p.Gln1789=) c.4976A= (p.Gln1659=) c.4835A= (p.Gln1612=) c.5267A= (p.Gln1756=) | |
8 | g.41668464G>A | CA371051690 | ANK1 | c.5320C>T (p.Gln1774Ter) c.5416C>T (p.Gln1806Ter) c.5233C>T (p.Gln1745Ter) c.5197C>T (p.Gln1733Ter) c.1211C>T c.769C>T c.2675C>T n.2591C>T c.4711C>T (p.Gln1571Ter) c.5461C>T (p.Gln1821Ter) c.5362C>T (p.Gln1788Ter) c.5296C>T (p.Gln1766Ter) c.5278C>T (p.Gln1760Ter) c.4930C>T (p.Gln1644Ter) c.4810C>T (p.Gln1604Ter) c.5021C>T (p.Pro1674Leu) n.5052C>T c.5437C>T (p.Gln1813Ter) c.5374C>T (p.Gln1792Ter) c.5365C>T (p.Gln1789Ter) c.4975C>T (p.Gln1659Ter) c.4834C>T (p.Gln1612Ter) c.5266C>T (p.Gln1756Ter) | ClinVar |
8 | g.41668464G>C | CA371051691 | ANK1 | c.5320C>G (p.Gln1774Glu) c.5416C>G (p.Gln1806Glu) c.5233C>G (p.Gln1745Glu) c.5197C>G (p.Gln1733Glu) c.1211C>G c.769C>G c.2675C>G n.2591C>G c.4711C>G (p.Gln1571Glu) c.5461C>G (p.Gln1821Glu) c.5362C>G (p.Gln1788Glu) c.5296C>G (p.Gln1766Glu) c.5278C>G (p.Gln1760Glu) c.4930C>G (p.Gln1644Glu) c.4810C>G (p.Gln1604Glu) c.5021C>G (p.Pro1674Arg) n.5052C>G c.5437C>G (p.Gln1813Glu) c.5374C>G (p.Gln1792Glu) c.5365C>G (p.Gln1789Glu) c.4975C>G (p.Gln1659Glu) c.4834C>G (p.Gln1612Glu) c.5266C>G (p.Gln1756Glu) | |
8 | g.41668464G>T | CA371051693 | ANK1 | c.5320C>A (p.Gln1774Lys) c.5416C>A (p.Gln1806Lys) c.5233C>A (p.Gln1745Lys) c.5197C>A (p.Gln1733Lys) c.1211C>A c.769C>A c.2675C>A n.2591C>A c.4711C>A (p.Gln1571Lys) c.5461C>A (p.Gln1821Lys) c.5362C>A (p.Gln1788Lys) c.5296C>A (p.Gln1766Lys) c.5278C>A (p.Gln1760Lys) c.4930C>A (p.Gln1644Lys) c.4810C>A (p.Gln1604Lys) c.5021C>A (p.Pro1674Gln) n.5052C>A c.5437C>A (p.Gln1813Lys) c.5374C>A (p.Gln1792Lys) c.5365C>A (p.Gln1789Lys) c.4975C>A (p.Gln1659Lys) c.4834C>A (p.Gln1612Lys) c.5266C>A (p.Gln1756Lys) | |
8 | g.41668465G>A | CA460782080 | ANK1 | c.5319C>T (p.Phe1773=) c.5415C>T (p.Phe1805=) c.5232C>T (p.Phe1744=) c.5196C>T (p.Phe1732=) c.1210C>T c.768C>T c.2674C>T n.2590C>T c.4710C>T (p.Phe1570=) c.5460C>T (p.Phe1820=) c.5361C>T (p.Phe1787=) c.5295C>T (p.Phe1765=) c.5277C>T (p.Phe1759=) c.4929C>T (p.Phe1643=) c.4809C>T (p.Phe1603=) c.5020C>T (p.Pro1674Ser) n.5051C>T c.5436C>T (p.Phe1812=) c.5373C>T (p.Phe1791=) c.5364C>T (p.Phe1788=) c.4974C>T (p.Phe1658=) c.4833C>T (p.Phe1611=) c.5265C>T (p.Phe1755=) | dbSNP gnomAD v4 |
8 | g.41668465G>C | CA371051695 | ANK1 | c.5319C>G (p.Phe1773Leu) c.5415C>G (p.Phe1805Leu) c.5232C>G (p.Phe1744Leu) c.5196C>G (p.Phe1732Leu) c.1210C>G c.768C>G c.2674C>G n.2590C>G c.4710C>G (p.Phe1570Leu) c.5460C>G (p.Phe1820Leu) c.5361C>G (p.Phe1787Leu) c.5295C>G (p.Phe1765Leu) c.5277C>G (p.Phe1759Leu) c.4929C>G (p.Phe1643Leu) c.4809C>G (p.Phe1603Leu) c.5020C>G (p.Pro1674Ala) n.5051C>G c.5436C>G (p.Phe1812Leu) c.5373C>G (p.Phe1791Leu) c.5364C>G (p.Phe1788Leu) c.4974C>G (p.Phe1658Leu) c.4833C>G (p.Phe1611Leu) c.5265C>G (p.Phe1755Leu) | dbSNP |
8 | g.41668465G= | CA1779071259 | ANK1 | c.5319C= (p.Phe1773=) c.5415C= (p.Phe1805=) c.5232C= (p.Phe1744=) c.5196C= (p.Phe1732=) c.1210C= c.768C= c.2674C= n.2590C= c.4710C= (p.Phe1570=) c.5460C= (p.Phe1820=) c.5361C= (p.Phe1787=) c.5295C= (p.Phe1765=) c.5277C= (p.Phe1759=) c.4929C= (p.Phe1643=) c.4809C= (p.Phe1603=) c.5020C= (p.Pro1674=) n.5051C= c.5436C= (p.Phe1812=) c.5373C= (p.Phe1791=) c.5364C= (p.Phe1788=) c.4974C= (p.Phe1658=) c.4833C= (p.Phe1611=) c.5265C= (p.Phe1755=) | |
8 | g.41668465G>T | CA371051697 | ANK1 | c.5319C>A (p.Phe1773Leu) c.5415C>A (p.Phe1805Leu) c.5232C>A (p.Phe1744Leu) c.5196C>A (p.Phe1732Leu) c.1210C>A c.768C>A c.2674C>A n.2590C>A c.4710C>A (p.Phe1570Leu) c.5460C>A (p.Phe1820Leu) c.5361C>A (p.Phe1787Leu) c.5295C>A (p.Phe1765Leu) c.5277C>A (p.Phe1759Leu) c.4929C>A (p.Phe1643Leu) c.4809C>A (p.Phe1603Leu) c.5020C>A (p.Pro1674Thr) n.5051C>A c.5436C>A (p.Phe1812Leu) c.5373C>A (p.Phe1791Leu) c.5364C>A (p.Phe1788Leu) c.4974C>A (p.Phe1658Leu) c.4833C>A (p.Phe1611Leu) c.5265C>A (p.Phe1755Leu) | |
8 | g.41668466A>C | CA371051700 | ANK1 | c.5318T>G (p.Phe1773Cys) c.5414T>G (p.Phe1805Cys) c.5231T>G (p.Phe1744Cys) c.5195T>G (p.Phe1732Cys) c.1209T>G c.767T>G c.2673T>G n.2589T>G c.4709T>G (p.Phe1570Cys) c.5459T>G (p.Phe1820Cys) c.5360T>G (p.Phe1787Cys) c.5294T>G (p.Phe1765Cys) c.5276T>G (p.Phe1759Cys) c.4928T>G (p.Phe1643Cys) c.4808T>G (p.Phe1603Cys) c.5019T>G (p.Ile1673Met) n.5050T>G c.5435T>G (p.Phe1812Cys) c.5372T>G (p.Phe1791Cys) c.5363T>G (p.Phe1788Cys) c.4973T>G (p.Phe1658Cys) c.4832T>G (p.Phe1611Cys) c.5264T>G (p.Phe1755Cys) | |
8 | g.41668466A>G | CA371051701 | ANK1 | c.5318T>C (p.Phe1773Ser) c.5414T>C (p.Phe1805Ser) c.5231T>C (p.Phe1744Ser) c.5195T>C (p.Phe1732Ser) c.1209T>C c.767T>C c.2673T>C n.2589T>C c.4709T>C (p.Phe1570Ser) c.5459T>C (p.Phe1820Ser) c.5360T>C (p.Phe1787Ser) c.5294T>C (p.Phe1765Ser) c.5276T>C (p.Phe1759Ser) c.4928T>C (p.Phe1643Ser) c.4808T>C (p.Phe1603Ser) c.5019T>C (p.Ile1673=) n.5050T>C c.5435T>C (p.Phe1812Ser) c.5372T>C (p.Phe1791Ser) c.5363T>C (p.Phe1788Ser) c.4973T>C (p.Phe1658Ser) c.4832T>C (p.Phe1611Ser) c.5264T>C (p.Phe1755Ser) | |
8 | g.41668466A>T | CA371051704 | ANK1 | c.5318T>A (p.Phe1773Tyr) c.5414T>A (p.Phe1805Tyr) c.5231T>A (p.Phe1744Tyr) c.5195T>A (p.Phe1732Tyr) c.1209T>A c.767T>A c.2673T>A n.2589T>A c.4709T>A (p.Phe1570Tyr) c.5459T>A (p.Phe1820Tyr) c.5360T>A (p.Phe1787Tyr) c.5294T>A (p.Phe1765Tyr) c.5276T>A (p.Phe1759Tyr) c.4928T>A (p.Phe1643Tyr) c.4808T>A (p.Phe1603Tyr) c.5019T>A (p.Ile1673=) n.5050T>A c.5435T>A (p.Phe1812Tyr) c.5372T>A (p.Phe1791Tyr) c.5363T>A (p.Phe1788Tyr) c.4973T>A (p.Phe1658Tyr) c.4832T>A (p.Phe1611Tyr) c.5264T>A (p.Phe1755Tyr) | |
8 | g.41668467A= | CA1779071262 | ANK1 | c.5317T= (p.Phe1773=) c.5413T= (p.Phe1805=) c.5230T= (p.Phe1744=) c.5194T= (p.Phe1732=) c.1208T= c.766T= c.2672T= n.2588T= c.4708T= (p.Phe1570=) c.5458T= (p.Phe1820=) c.5359T= (p.Phe1787=) c.5293T= (p.Phe1765=) c.5275T= (p.Phe1759=) c.4927T= (p.Phe1643=) c.4807T= (p.Phe1603=) c.5018T= (p.Ile1673=) n.5049T= c.5434T= (p.Phe1812=) c.5371T= (p.Phe1791=) c.5362T= (p.Phe1788=) c.4972T= (p.Phe1658=) c.4831T= (p.Phe1611=) c.5263T= (p.Phe1755=) | |
8 | g.41668467A>C | CA371051706 | ANK1 | c.5317T>G (p.Phe1773Val) c.5413T>G (p.Phe1805Val) c.5230T>G (p.Phe1744Val) c.5194T>G (p.Phe1732Val) c.1208T>G c.766T>G c.2672T>G n.2588T>G c.4708T>G (p.Phe1570Val) c.5458T>G (p.Phe1820Val) c.5359T>G (p.Phe1787Val) c.5293T>G (p.Phe1765Val) c.5275T>G (p.Phe1759Val) c.4927T>G (p.Phe1643Val) c.4807T>G (p.Phe1603Val) c.5018T>G (p.Ile1673Ser) n.5049T>G c.5434T>G (p.Phe1812Val) c.5371T>G (p.Phe1791Val) c.5362T>G (p.Phe1788Val) c.4972T>G (p.Phe1658Val) c.4831T>G (p.Phe1611Val) c.5263T>G (p.Phe1755Val) | |
8 | g.41668467A>G | CA371051708 | ANK1 | c.5317T>C (p.Phe1773Leu) c.5413T>C (p.Phe1805Leu) c.5230T>C (p.Phe1744Leu) c.5194T>C (p.Phe1732Leu) c.1208T>C c.766T>C c.2672T>C n.2588T>C c.4708T>C (p.Phe1570Leu) c.5458T>C (p.Phe1820Leu) c.5359T>C (p.Phe1787Leu) c.5293T>C (p.Phe1765Leu) c.5275T>C (p.Phe1759Leu) c.4927T>C (p.Phe1643Leu) c.4807T>C (p.Phe1603Leu) c.5018T>C (p.Ile1673Thr) n.5049T>C c.5434T>C (p.Phe1812Leu) c.5371T>C (p.Phe1791Leu) c.5362T>C (p.Phe1788Leu) c.4972T>C (p.Phe1658Leu) c.4831T>C (p.Phe1611Leu) c.5263T>C (p.Phe1755Leu) | dbSNP |
8 | g.41668467A>T | CA371051709 | ANK1 | c.5317T>A (p.Phe1773Ile) c.5413T>A (p.Phe1805Ile) c.5230T>A (p.Phe1744Ile) c.5194T>A (p.Phe1732Ile) c.1208T>A c.766T>A c.2672T>A n.2588T>A c.4708T>A (p.Phe1570Ile) c.5458T>A (p.Phe1820Ile) c.5359T>A (p.Phe1787Ile) c.5293T>A (p.Phe1765Ile) c.5275T>A (p.Phe1759Ile) c.4927T>A (p.Phe1643Ile) c.4807T>A (p.Phe1603Ile) c.5018T>A (p.Ile1673Asn) n.5049T>A c.5434T>A (p.Phe1812Ile) c.5371T>A (p.Phe1791Ile) c.5362T>A (p.Phe1788Ile) c.4972T>A (p.Phe1658Ile) c.4831T>A (p.Phe1611Ile) c.5263T>A (p.Phe1755Ile) | |
8 | g.41668468T>A | CA460782081 | ANK1 | c.5316A>T (p.Ser1772=) c.5412A>T (p.Ser1804=) c.5229A>T (p.Ser1743=) c.5193A>T (p.Ser1731=) c.1207A>T c.765A>T c.2671A>T n.2587A>T c.4707A>T (p.Ser1569=) c.5457A>T (p.Ser1819=) c.5358A>T (p.Ser1786=) c.5292A>T (p.Ser1764=) c.5274A>T (p.Ser1758=) c.4926A>T (p.Ser1642=) c.4806A>T (p.Ser1602=) c.5017A>T (p.Ile1673Phe) n.5048A>T c.5433A>T (p.Ser1811=) c.5370A>T (p.Ser1790=) c.5361A>T (p.Ser1787=) c.4971A>T (p.Ser1657=) c.4830A>T (p.Ser1610=) c.5262A>T (p.Ser1754=) | gnomAD v4 |
8 | g.41668468T>C | CA460782082 | ANK1 | c.5316A>G (p.Ser1772=) c.5412A>G (p.Ser1804=) c.5229A>G (p.Ser1743=) c.5193A>G (p.Ser1731=) c.1207A>G c.765A>G c.2671A>G n.2587A>G c.4707A>G (p.Ser1569=) c.5457A>G (p.Ser1819=) c.5358A>G (p.Ser1786=) c.5292A>G (p.Ser1764=) c.5274A>G (p.Ser1758=) c.4926A>G (p.Ser1642=) c.4806A>G (p.Ser1602=) c.5017A>G (p.Ile1673Val) n.5048A>G c.5433A>G (p.Ser1811=) c.5370A>G (p.Ser1790=) c.5361A>G (p.Ser1787=) c.4971A>G (p.Ser1657=) c.4830A>G (p.Ser1610=) c.5262A>G (p.Ser1754=) | gnomAD v4 |
8 | g.41668468T>G | CA460782083 | ANK1 | c.5316A>C (p.Ser1772=) c.5412A>C (p.Ser1804=) c.5229A>C (p.Ser1743=) c.5193A>C (p.Ser1731=) c.1207A>C c.765A>C c.2671A>C n.2587A>C c.4707A>C (p.Ser1569=) c.5457A>C (p.Ser1819=) c.5358A>C (p.Ser1786=) c.5292A>C (p.Ser1764=) c.5274A>C (p.Ser1758=) c.4926A>C (p.Ser1642=) c.4806A>C (p.Ser1602=) c.5017A>C (p.Ile1673Leu) n.5048A>C c.5433A>C (p.Ser1811=) c.5370A>C (p.Ser1790=) c.5361A>C (p.Ser1787=) c.4971A>C (p.Ser1657=) c.4830A>C (p.Ser1610=) c.5262A>C (p.Ser1754=) | |
8 | g.41668469G>A | CA371051715 | ANK1 | c.5315C>T (p.Ser1772Leu) c.5411C>T (p.Ser1804Leu) c.5228C>T (p.Ser1743Leu) c.5192C>T (p.Ser1731Leu) c.1206C>T c.764C>T c.2670C>T n.2586C>T c.4706C>T (p.Ser1569Leu) c.5456C>T (p.Ser1819Leu) c.5357C>T (p.Ser1786Leu) c.5291C>T (p.Ser1764Leu) c.5273C>T (p.Ser1758Leu) c.4925C>T (p.Ser1642Leu) c.4805C>T (p.Ser1602Leu) c.5016C>T (p.Leu1672=) n.5047C>T c.5432C>T (p.Ser1811Leu) c.5369C>T (p.Ser1790Leu) c.5360C>T (p.Ser1787Leu) c.4970C>T (p.Ser1657Leu) c.4829C>T (p.Ser1610Leu) c.5261C>T (p.Ser1754Leu) | |
8 | g.41668469G>C | CA371051711 | ANK1 | c.5315C>G (p.Ser1772Ter) c.5411C>G (p.Ser1804Ter) c.5228C>G (p.Ser1743Ter) c.5192C>G (p.Ser1731Ter) c.1206C>G c.764C>G c.2670C>G n.2586C>G c.4706C>G (p.Ser1569Ter) c.5456C>G (p.Ser1819Ter) c.5357C>G (p.Ser1786Ter) c.5291C>G (p.Ser1764Ter) c.5273C>G (p.Ser1758Ter) c.4925C>G (p.Ser1642Ter) c.4805C>G (p.Ser1602Ter) c.5016C>G (p.Leu1672=) n.5047C>G c.5432C>G (p.Ser1811Ter) c.5369C>G (p.Ser1790Ter) c.5360C>G (p.Ser1787Ter) c.4970C>G (p.Ser1657Ter) c.4829C>G (p.Ser1610Ter) c.5261C>G (p.Ser1754Ter) | ClinVar gnomAD v4 |
8 | g.41668469G>T | CA371051713 | ANK1 | c.5315C>A (p.Ser1772Ter) c.5411C>A (p.Ser1804Ter) c.5228C>A (p.Ser1743Ter) c.5192C>A (p.Ser1731Ter) c.1206C>A c.764C>A c.2670C>A n.2586C>A c.4706C>A (p.Ser1569Ter) c.5456C>A (p.Ser1819Ter) c.5357C>A (p.Ser1786Ter) c.5291C>A (p.Ser1764Ter) c.5273C>A (p.Ser1758Ter) c.4925C>A (p.Ser1642Ter) c.4805C>A (p.Ser1602Ter) c.5016C>A (p.Leu1672=) n.5047C>A c.5432C>A (p.Ser1811Ter) c.5369C>A (p.Ser1790Ter) c.5360C>A (p.Ser1787Ter) c.4970C>A (p.Ser1657Ter) c.4829C>A (p.Ser1610Ter) c.5261C>A (p.Ser1754Ter) | |
8 | g.41668470A>C | CA371051717 | ANK1 | c.5314T>G (p.Ser1772Ala) c.5410T>G (p.Ser1804Ala) c.5227T>G (p.Ser1743Ala) c.5191T>G (p.Ser1731Ala) c.1205T>G c.763T>G c.2669T>G n.2585T>G c.4705T>G (p.Ser1569Ala) c.5455T>G (p.Ser1819Ala) c.5356T>G (p.Ser1786Ala) c.5290T>G (p.Ser1764Ala) c.5272T>G (p.Ser1758Ala) c.4924T>G (p.Ser1642Ala) c.4804T>G (p.Ser1602Ala) c.5015T>G (p.Leu1672Arg) n.5046T>G c.5431T>G (p.Ser1811Ala) c.5368T>G (p.Ser1790Ala) c.5359T>G (p.Ser1787Ala) c.4969T>G (p.Ser1657Ala) c.4828T>G (p.Ser1610Ala) c.5260T>G (p.Ser1754Ala) | |
8 | g.41668470A>G | CA371051719 | ANK1 | c.5314T>C (p.Ser1772Pro) c.5410T>C (p.Ser1804Pro) c.5227T>C (p.Ser1743Pro) c.5191T>C (p.Ser1731Pro) c.1205T>C c.763T>C c.2669T>C n.2585T>C c.4705T>C (p.Ser1569Pro) c.5455T>C (p.Ser1819Pro) c.5356T>C (p.Ser1786Pro) c.5290T>C (p.Ser1764Pro) c.5272T>C (p.Ser1758Pro) c.4924T>C (p.Ser1642Pro) c.4804T>C (p.Ser1602Pro) c.5015T>C (p.Leu1672Pro) n.5046T>C c.5431T>C (p.Ser1811Pro) c.5368T>C (p.Ser1790Pro) c.5359T>C (p.Ser1787Pro) c.4969T>C (p.Ser1657Pro) c.4828T>C (p.Ser1610Pro) c.5260T>C (p.Ser1754Pro) | |
8 | g.41668470A>T | CA371051720 | ANK1 | c.5314T>A (p.Ser1772Thr) c.5410T>A (p.Ser1804Thr) c.5227T>A (p.Ser1743Thr) c.5191T>A (p.Ser1731Thr) c.1205T>A c.763T>A c.2669T>A n.2585T>A c.4705T>A (p.Ser1569Thr) c.5455T>A (p.Ser1819Thr) c.5356T>A (p.Ser1786Thr) c.5290T>A (p.Ser1764Thr) c.5272T>A (p.Ser1758Thr) c.4924T>A (p.Ser1642Thr) c.4804T>A (p.Ser1602Thr) c.5015T>A (p.Leu1672His) n.5046T>A c.5431T>A (p.Ser1811Thr) c.5368T>A (p.Ser1790Thr) c.5359T>A (p.Ser1787Thr) c.4969T>A (p.Ser1657Thr) c.4828T>A (p.Ser1610Thr) c.5260T>A (p.Ser1754Thr) | |
8 | g.41668471G>A | CA460782084 | ANK1 | c.5313C>T (p.His1771=) c.5409C>T (p.His1803=) c.5226C>T (p.His1742=) c.5190C>T (p.His1730=) c.1204C>T c.762C>T c.2668C>T n.2584C>T c.4704C>T (p.His1568=) c.5454C>T (p.His1818=) c.5355C>T (p.His1785=) c.5289C>T (p.His1763=) c.5271C>T (p.His1757=) c.4923C>T (p.His1641=) c.4803C>T (p.His1601=) c.5014C>T (p.Leu1672Phe) n.5045C>T c.5430C>T (p.His1810=) c.5367C>T (p.His1789=) c.5358C>T (p.His1786=) c.4968C>T (p.His1656=) c.4827C>T (p.His1609=) c.5259C>T (p.His1753=) | |
8 | g.41668471G>C | CA371051722 | ANK1 | c.5313C>G (p.His1771Gln) c.5409C>G (p.His1803Gln) c.5226C>G (p.His1742Gln) c.5190C>G (p.His1730Gln) c.1204C>G c.762C>G c.2668C>G n.2584C>G c.4704C>G (p.His1568Gln) c.5454C>G (p.His1818Gln) c.5355C>G (p.His1785Gln) c.5289C>G (p.His1763Gln) c.5271C>G (p.His1757Gln) c.4923C>G (p.His1641Gln) c.4803C>G (p.His1601Gln) c.5014C>G (p.Leu1672Val) n.5045C>G c.5430C>G (p.His1810Gln) c.5367C>G (p.His1789Gln) c.5358C>G (p.His1786Gln) c.4968C>G (p.His1656Gln) c.4827C>G (p.His1609Gln) c.5259C>G (p.His1753Gln) | |
8 | g.41668471G>T | CA371051724 | ANK1 | c.5313C>A (p.His1771Gln) c.5409C>A (p.His1803Gln) c.5226C>A (p.His1742Gln) c.5190C>A (p.His1730Gln) c.1204C>A c.762C>A c.2668C>A n.2584C>A c.4704C>A (p.His1568Gln) c.5454C>A (p.His1818Gln) c.5355C>A (p.His1785Gln) c.5289C>A (p.His1763Gln) c.5271C>A (p.His1757Gln) c.4923C>A (p.His1641Gln) c.4803C>A (p.His1601Gln) c.5014C>A (p.Leu1672Ile) n.5045C>A c.5430C>A (p.His1810Gln) c.5367C>A (p.His1789Gln) c.5358C>A (p.His1786Gln) c.4968C>A (p.His1656Gln) c.4827C>A (p.His1609Gln) c.5259C>A (p.His1753Gln) | |
8 | g.41668472T>A | CA371051726 | ANK1 | c.5312A>T (p.His1771Leu) c.5408A>T (p.His1803Leu) c.5225A>T (p.His1742Leu) c.5189A>T (p.His1730Leu) c.1203A>T c.761A>T c.2667A>T n.2583A>T c.4703A>T (p.His1568Leu) c.5453A>T (p.His1818Leu) c.5354A>T (p.His1785Leu) c.5288A>T (p.His1763Leu) c.5270A>T (p.His1757Leu) c.4922A>T (p.His1641Leu) c.4802A>T (p.His1601Leu) c.5013A>T (p.Thr1671=) n.5044A>T c.5429A>T (p.His1810Leu) c.5366A>T (p.His1789Leu) c.5357A>T (p.His1786Leu) c.4967A>T (p.His1656Leu) c.4826A>T (p.His1609Leu) c.5258A>T (p.His1753Leu) | ClinVar |
8 | g.41668472T>C | CA371051727 | ANK1 | c.5312A>G (p.His1771Arg) c.5408A>G (p.His1803Arg) c.5225A>G (p.His1742Arg) c.5189A>G (p.His1730Arg) c.1203A>G c.761A>G c.2667A>G n.2583A>G c.4703A>G (p.His1568Arg) c.5453A>G (p.His1818Arg) c.5354A>G (p.His1785Arg) c.5288A>G (p.His1763Arg) c.5270A>G (p.His1757Arg) c.4922A>G (p.His1641Arg) c.4802A>G (p.His1601Arg) c.5013A>G (p.Thr1671=) n.5044A>G c.5429A>G (p.His1810Arg) c.5366A>G (p.His1789Arg) c.5357A>G (p.His1786Arg) c.4967A>G (p.His1656Arg) c.4826A>G (p.His1609Arg) c.5258A>G (p.His1753Arg) | gnomAD v4 |
8 | g.41668472T>G | CA371051729 | ANK1 | c.5312A>C (p.His1771Pro) c.5408A>C (p.His1803Pro) c.5225A>C (p.His1742Pro) c.5189A>C (p.His1730Pro) c.1203A>C c.761A>C c.2667A>C n.2583A>C c.4703A>C (p.His1568Pro) c.5453A>C (p.His1818Pro) c.5354A>C (p.His1785Pro) c.5288A>C (p.His1763Pro) c.5270A>C (p.His1757Pro) c.4922A>C (p.His1641Pro) c.4802A>C (p.His1601Pro) c.5013A>C (p.Thr1671=) n.5044A>C c.5429A>C (p.His1810Pro) c.5366A>C (p.His1789Pro) c.5357A>C (p.His1786Pro) c.4967A>C (p.His1656Pro) c.4826A>C (p.His1609Pro) c.5258A>C (p.His1753Pro) | |
8 | g.41668473G>A | CA371051731 | ANK1 | c.5311C>T (p.His1771Tyr) c.5407C>T (p.His1803Tyr) c.5224C>T (p.His1742Tyr) c.5188C>T (p.His1730Tyr) c.1202C>T c.760C>T c.2666C>T n.2582C>T c.4702C>T (p.His1568Tyr) c.5452C>T (p.His1818Tyr) c.5353C>T (p.His1785Tyr) c.5287C>T (p.His1763Tyr) c.5269C>T (p.His1757Tyr) c.4921C>T (p.His1641Tyr) c.4801C>T (p.His1601Tyr) c.5012C>T (p.Thr1671Ile) n.5043C>T c.5428C>T (p.His1810Tyr) c.5365C>T (p.His1789Tyr) c.5356C>T (p.His1786Tyr) c.4966C>T (p.His1656Tyr) c.4825C>T (p.His1609Tyr) c.5257C>T (p.His1753Tyr) | gnomAD v4 |
8 | g.41668473G>C | CA371051732 | ANK1 | c.5311C>G (p.His1771Asp) c.5407C>G (p.His1803Asp) c.5224C>G (p.His1742Asp) c.5188C>G (p.His1730Asp) c.1202C>G c.760C>G c.2666C>G n.2582C>G c.4702C>G (p.His1568Asp) c.5452C>G (p.His1818Asp) c.5353C>G (p.His1785Asp) c.5287C>G (p.His1763Asp) c.5269C>G (p.His1757Asp) c.4921C>G (p.His1641Asp) c.4801C>G (p.His1601Asp) c.5012C>G (p.Thr1671Arg) n.5043C>G c.5428C>G (p.His1810Asp) c.5365C>G (p.His1789Asp) c.5356C>G (p.His1786Asp) c.4966C>G (p.His1656Asp) c.4825C>G (p.His1609Asp) c.5257C>G (p.His1753Asp) | |
8 | g.41668473G>T | CA371051733 | ANK1 | c.5311C>A (p.His1771Asn) c.5407C>A (p.His1803Asn) c.5224C>A (p.His1742Asn) c.5188C>A (p.His1730Asn) c.1202C>A c.760C>A c.2666C>A n.2582C>A c.4702C>A (p.His1568Asn) c.5452C>A (p.His1818Asn) c.5353C>A (p.His1785Asn) c.5287C>A (p.His1763Asn) c.5269C>A (p.His1757Asn) c.4921C>A (p.His1641Asn) c.4801C>A (p.His1601Asn) c.5012C>A (p.Thr1671Lys) n.5043C>A c.5428C>A (p.His1810Asn) c.5365C>A (p.His1789Asn) c.5356C>A (p.His1786Asn) c.4966C>A (p.His1656Asn) c.4825C>A (p.His1609Asn) c.5257C>A (p.His1753Asn) | |
8 | g.41668474T>A | CA460782085 | ANK1 | c.5310A>T (p.Pro1770=) c.5406A>T (p.Pro1802=) c.5223A>T (p.Pro1741=) c.5187A>T (p.Pro1729=) c.1201A>T c.759A>T c.2665A>T n.2581A>T c.4701A>T (p.Pro1567=) c.5451A>T (p.Pro1817=) c.5352A>T (p.Pro1784=) c.5286A>T (p.Pro1762=) c.5268A>T (p.Pro1756=) c.4920A>T (p.Pro1640=) c.4800A>T (p.Pro1600=) c.5011A>T (p.Thr1671Ser) n.5042A>T c.5427A>T (p.Pro1809=) c.5364A>T (p.Pro1788=) c.5355A>T (p.Pro1785=) c.4965A>T (p.Pro1655=) c.4824A>T (p.Pro1608=) c.5256A>T (p.Pro1752=) | |
8 | g.41668474T>C | CA460782086 | ANK1 | c.5310A>G (p.Pro1770=) c.5406A>G (p.Pro1802=) c.5223A>G (p.Pro1741=) c.5187A>G (p.Pro1729=) c.1201A>G c.759A>G c.2665A>G n.2581A>G c.4701A>G (p.Pro1567=) c.5451A>G (p.Pro1817=) c.5352A>G (p.Pro1784=) c.5286A>G (p.Pro1762=) c.5268A>G (p.Pro1756=) c.4920A>G (p.Pro1640=) c.4800A>G (p.Pro1600=) c.5011A>G (p.Thr1671Ala) n.5042A>G c.5427A>G (p.Pro1809=) c.5364A>G (p.Pro1788=) c.5355A>G (p.Pro1785=) c.4965A>G (p.Pro1655=) c.4824A>G (p.Pro1608=) c.5256A>G (p.Pro1752=) | |
8 | g.41668474T>G | CA460782087 | ANK1 | c.5310A>C (p.Pro1770=) c.5406A>C (p.Pro1802=) c.5223A>C (p.Pro1741=) c.5187A>C (p.Pro1729=) c.1201A>C c.759A>C c.2665A>C n.2581A>C c.4701A>C (p.Pro1567=) c.5451A>C (p.Pro1817=) c.5352A>C (p.Pro1784=) c.5286A>C (p.Pro1762=) c.5268A>C (p.Pro1756=) c.4920A>C (p.Pro1640=) c.4800A>C (p.Pro1600=) c.5011A>C (p.Thr1671Pro) n.5042A>C c.5427A>C (p.Pro1809=) c.5364A>C (p.Pro1788=) c.5355A>C (p.Pro1785=) c.4965A>C (p.Pro1655=) c.4824A>C (p.Pro1608=) c.5256A>C (p.Pro1752=) | |
8 | g.41668475G>A | CA371051738 | ANK1 | c.5309C>T (p.Pro1770Leu) c.5405C>T (p.Pro1802Leu) c.5222C>T (p.Pro1741Leu) c.5186C>T (p.Pro1729Leu) c.1200C>T c.758C>T c.2664C>T n.2580C>T c.4700C>T (p.Pro1567Leu) c.5450C>T (p.Pro1817Leu) c.5351C>T (p.Pro1784Leu) c.5285C>T (p.Pro1762Leu) c.5267C>T (p.Pro1756Leu) c.4919C>T (p.Pro1640Leu) c.4799C>T (p.Pro1600Leu) c.5010C>T (p.Ser1670=) n.5041C>T c.5426C>T (p.Pro1809Leu) c.5363C>T (p.Pro1788Leu) c.5354C>T (p.Pro1785Leu) c.4964C>T (p.Pro1655Leu) c.4823C>T (p.Pro1608Leu) c.5255C>T (p.Pro1752Leu) | |
8 | g.41668475G>C | CA371051737 | ANK1 | c.5309C>G (p.Pro1770Arg) c.5405C>G (p.Pro1802Arg) c.5222C>G (p.Pro1741Arg) c.5186C>G (p.Pro1729Arg) c.1200C>G c.758C>G c.2664C>G n.2580C>G c.4700C>G (p.Pro1567Arg) c.5450C>G (p.Pro1817Arg) c.5351C>G (p.Pro1784Arg) c.5285C>G (p.Pro1762Arg) c.5267C>G (p.Pro1756Arg) c.4919C>G (p.Pro1640Arg) c.4799C>G (p.Pro1600Arg) c.5010C>G (p.Ser1670=) n.5041C>G c.5426C>G (p.Pro1809Arg) c.5363C>G (p.Pro1788Arg) c.5354C>G (p.Pro1785Arg) c.4964C>G (p.Pro1655Arg) c.4823C>G (p.Pro1608Arg) c.5255C>G (p.Pro1752Arg) | |
8 | g.41668475G>T | CA371051736 | ANK1 | c.5309C>A (p.Pro1770Gln) c.5405C>A (p.Pro1802Gln) c.5222C>A (p.Pro1741Gln) c.5186C>A (p.Pro1729Gln) c.1200C>A c.758C>A c.2664C>A n.2580C>A c.4700C>A (p.Pro1567Gln) c.5450C>A (p.Pro1817Gln) c.5351C>A (p.Pro1784Gln) c.5285C>A (p.Pro1762Gln) c.5267C>A (p.Pro1756Gln) c.4919C>A (p.Pro1640Gln) c.4799C>A (p.Pro1600Gln) c.5010C>A (p.Ser1670=) n.5041C>A c.5426C>A (p.Pro1809Gln) c.5363C>A (p.Pro1788Gln) c.5354C>A (p.Pro1785Gln) c.4964C>A (p.Pro1655Gln) c.4823C>A (p.Pro1608Gln) c.5255C>A (p.Pro1752Gln) | |
8 | g.41668476G>A | CA371051741 | ANK1 | c.5308C>T (p.Pro1770Ser) c.5404C>T (p.Pro1802Ser) c.5221C>T (p.Pro1741Ser) c.5185C>T (p.Pro1729Ser) c.1199C>T c.757C>T c.2663C>T n.2579C>T c.4699C>T (p.Pro1567Ser) c.5449C>T (p.Pro1817Ser) c.5350C>T (p.Pro1784Ser) c.5284C>T (p.Pro1762Ser) c.5266C>T (p.Pro1756Ser) c.4918C>T (p.Pro1640Ser) c.4798C>T (p.Pro1600Ser) c.5009C>T (p.Ser1670Phe) n.5040C>T c.5425C>T (p.Pro1809Ser) c.5362C>T (p.Pro1788Ser) c.5353C>T (p.Pro1785Ser) c.4963C>T (p.Pro1655Ser) c.4822C>T (p.Pro1608Ser) c.5254C>T (p.Pro1752Ser) | dbSNP |
8 | g.41668476G>C | CA371051743 | ANK1 | c.5308C>G (p.Pro1770Ala) c.5404C>G (p.Pro1802Ala) c.5221C>G (p.Pro1741Ala) c.5185C>G (p.Pro1729Ala) c.1199C>G c.757C>G c.2663C>G n.2579C>G c.4699C>G (p.Pro1567Ala) c.5449C>G (p.Pro1817Ala) c.5350C>G (p.Pro1784Ala) c.5284C>G (p.Pro1762Ala) c.5266C>G (p.Pro1756Ala) c.4918C>G (p.Pro1640Ala) c.4798C>G (p.Pro1600Ala) c.5009C>G (p.Ser1670Cys) n.5040C>G c.5425C>G (p.Pro1809Ala) c.5362C>G (p.Pro1788Ala) c.5353C>G (p.Pro1785Ala) c.4963C>G (p.Pro1655Ala) c.4822C>G (p.Pro1608Ala) c.5254C>G (p.Pro1752Ala) | |
8 | g.41668476G= | CA1779071264 | ANK1 | c.5308C= (p.Pro1770=) c.5404C= (p.Pro1802=) c.5221C= (p.Pro1741=) c.5185C= (p.Pro1729=) c.1199C= c.757C= c.2663C= n.2579C= c.4699C= (p.Pro1567=) c.5449C= (p.Pro1817=) c.5350C= (p.Pro1784=) c.5284C= (p.Pro1762=) c.5266C= (p.Pro1756=) c.4918C= (p.Pro1640=) c.4798C= (p.Pro1600=) c.5009C= (p.Ser1670=) n.5040C= c.5425C= (p.Pro1809=) c.5362C= (p.Pro1788=) c.5353C= (p.Pro1785=) c.4963C= (p.Pro1655=) c.4822C= (p.Pro1608=) c.5254C= (p.Pro1752=) | |
8 | g.41668476G>T | CA371051744 | ANK1 | c.5308C>A (p.Pro1770Thr) c.5404C>A (p.Pro1802Thr) c.5221C>A (p.Pro1741Thr) c.5185C>A (p.Pro1729Thr) c.1199C>A c.757C>A c.2663C>A n.2579C>A c.4699C>A (p.Pro1567Thr) c.5449C>A (p.Pro1817Thr) c.5350C>A (p.Pro1784Thr) c.5284C>A (p.Pro1762Thr) c.5266C>A (p.Pro1756Thr) c.4918C>A (p.Pro1640Thr) c.4798C>A (p.Pro1600Thr) c.5009C>A (p.Ser1670Tyr) n.5040C>A c.5425C>A (p.Pro1809Thr) c.5362C>A (p.Pro1788Thr) c.5353C>A (p.Pro1785Thr) c.4963C>A (p.Pro1655Thr) c.4822C>A (p.Pro1608Thr) c.5254C>A (p.Pro1752Thr) | |
8 | g.41668477A= | CA1779071269 | ANK1 | c.5307T= (p.Gly1769=) c.5403T= (p.Gly1801=) c.5220T= (p.Gly1740=) c.5184T= (p.Gly1728=) c.1198T= c.756T= c.2662T= n.2578T= c.4698T= (p.Gly1566=) c.5448T= (p.Gly1816=) c.5349T= (p.Gly1783=) c.5283T= (p.Gly1761=) c.5265T= (p.Gly1755=) c.4917T= (p.Gly1639=) c.4797T= (p.Gly1599=) c.5008T= (p.Ser1670=) n.5039T= c.5424T= (p.Gly1808=) c.5361T= (p.Gly1787=) c.5352T= (p.Gly1784=) c.4962T= (p.Gly1654=) c.4821T= (p.Gly1607=) c.5253T= (p.Gly1751=) | |
8 | g.41668477A>C | CA460782088 | ANK1 | c.5307T>G (p.Gly1769=) c.5403T>G (p.Gly1801=) c.5220T>G (p.Gly1740=) c.5184T>G (p.Gly1728=) c.1198T>G c.756T>G c.2662T>G n.2578T>G c.4698T>G (p.Gly1566=) c.5448T>G (p.Gly1816=) c.5349T>G (p.Gly1783=) c.5283T>G (p.Gly1761=) c.5265T>G (p.Gly1755=) c.4917T>G (p.Gly1639=) c.4797T>G (p.Gly1599=) c.5008T>G (p.Ser1670Ala) n.5039T>G c.5424T>G (p.Gly1808=) c.5361T>G (p.Gly1787=) c.5352T>G (p.Gly1784=) c.4962T>G (p.Gly1654=) c.4821T>G (p.Gly1607=) c.5253T>G (p.Gly1751=) | |
8 | g.41668477A>G | CA4727352 | ANK1 | c.5307T>C (p.Gly1769=) c.5403T>C (p.Gly1801=) c.5220T>C (p.Gly1740=) c.5184T>C (p.Gly1728=) c.1198T>C c.756T>C c.2662T>C n.2578T>C c.4698T>C (p.Gly1566=) c.5448T>C (p.Gly1816=) c.5349T>C (p.Gly1783=) c.5283T>C (p.Gly1761=) c.5265T>C (p.Gly1755=) c.4917T>C (p.Gly1639=) c.4797T>C (p.Gly1599=) c.5008T>C (p.Ser1670Pro) n.5039T>C c.5424T>C (p.Gly1808=) c.5361T>C (p.Gly1787=) c.5352T>C (p.Gly1784=) c.4962T>C (p.Gly1654=) c.4821T>C (p.Gly1607=) c.5253T>C (p.Gly1751=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.41668477A>T | CA460782089 | ANK1 | c.5307T>A (p.Gly1769=) c.5403T>A (p.Gly1801=) c.5220T>A (p.Gly1740=) c.5184T>A (p.Gly1728=) c.1198T>A c.756T>A c.2662T>A n.2578T>A c.4698T>A (p.Gly1566=) c.5448T>A (p.Gly1816=) c.5349T>A (p.Gly1783=) c.5283T>A (p.Gly1761=) c.5265T>A (p.Gly1755=) c.4917T>A (p.Gly1639=) c.4797T>A (p.Gly1599=) c.5008T>A (p.Ser1670Thr) n.5039T>A c.5424T>A (p.Gly1808=) c.5361T>A (p.Gly1787=) c.5352T>A (p.Gly1784=) c.4962T>A (p.Gly1654=) c.4821T>A (p.Gly1607=) c.5253T>A (p.Gly1751=) | |
8 | g.41668478C>A | CA371051749 | ANK1 | c.5306G>T (p.Gly1769Val) c.5402G>T (p.Gly1801Val) c.5219G>T (p.Gly1740Val) c.5183G>T (p.Gly1728Val) c.1197G>T c.755G>T c.2661G>T n.2577G>T c.4697G>T (p.Gly1566Val) c.5447G>T (p.Gly1816Val) c.5348G>T (p.Gly1783Val) c.5282G>T (p.Gly1761Val) c.5264G>T (p.Gly1755Val) c.4916G>T (p.Gly1639Val) c.4796G>T (p.Gly1599Val) c.5007G>T (p.Arg1669Ser) n.5038G>T c.5423G>T (p.Gly1808Val) c.5360G>T (p.Gly1787Val) c.5351G>T (p.Gly1784Val) c.4961G>T (p.Gly1654Val) c.4820G>T (p.Gly1607Val) c.5252G>T (p.Gly1751Val) | |
8 | g.41668478C>G | CA371051751 | ANK1 | c.5306G>C (p.Gly1769Ala) c.5402G>C (p.Gly1801Ala) c.5219G>C (p.Gly1740Ala) c.5183G>C (p.Gly1728Ala) c.1197G>C c.755G>C c.2661G>C n.2577G>C c.4697G>C (p.Gly1566Ala) c.5447G>C (p.Gly1816Ala) c.5348G>C (p.Gly1783Ala) c.5282G>C (p.Gly1761Ala) c.5264G>C (p.Gly1755Ala) c.4916G>C (p.Gly1639Ala) c.4796G>C (p.Gly1599Ala) c.5007G>C (p.Arg1669Ser) n.5038G>C c.5423G>C (p.Gly1808Ala) c.5360G>C (p.Gly1787Ala) c.5351G>C (p.Gly1784Ala) c.4961G>C (p.Gly1654Ala) c.4820G>C (p.Gly1607Ala) c.5252G>C (p.Gly1751Ala) | |
8 | g.41668478C>T | CA371051753 | ANK1 | c.5306G>A (p.Gly1769Asp) c.5402G>A (p.Gly1801Asp) c.5219G>A (p.Gly1740Asp) c.5183G>A (p.Gly1728Asp) c.1197G>A c.755G>A c.2661G>A n.2577G>A c.4697G>A (p.Gly1566Asp) c.5447G>A (p.Gly1816Asp) c.5348G>A (p.Gly1783Asp) c.5282G>A (p.Gly1761Asp) c.5264G>A (p.Gly1755Asp) c.4916G>A (p.Gly1639Asp) c.4796G>A (p.Gly1599Asp) c.5007G>A (p.Arg1669=) n.5038G>A c.5423G>A (p.Gly1808Asp) c.5360G>A (p.Gly1787Asp) c.5351G>A (p.Gly1784Asp) c.4961G>A (p.Gly1654Asp) c.4820G>A (p.Gly1607Asp) c.5252G>A (p.Gly1751Asp) | |
8 | g.41668479C>A | CA371051755 | ANK1 | c.5305G>T (p.Gly1769Cys) c.5401G>T (p.Gly1801Cys) c.5218G>T (p.Gly1740Cys) c.5182G>T (p.Gly1728Cys) c.1196G>T c.754G>T c.2660G>T n.2576G>T c.4696G>T (p.Gly1566Cys) c.5446G>T (p.Gly1816Cys) c.5347G>T (p.Gly1783Cys) c.5281G>T (p.Gly1761Cys) c.5263G>T (p.Gly1755Cys) c.4915G>T (p.Gly1639Cys) c.4795G>T (p.Gly1599Cys) c.5006G>T (p.Arg1669Met) n.5037G>T c.5422G>T (p.Gly1808Cys) c.5359G>T (p.Gly1787Cys) c.5350G>T (p.Gly1784Cys) c.4960G>T (p.Gly1654Cys) c.4819G>T (p.Gly1607Cys) c.5251G>T (p.Gly1751Cys) | gnomAD v4 |
8 | g.41668479C= | CA1779071273 | ANK1 | c.5305G= (p.Gly1769=) c.5401G= (p.Gly1801=) c.5218G= (p.Gly1740=) c.5182G= (p.Gly1728=) c.1196G= c.754G= c.2660G= n.2576G= c.4696G= (p.Gly1566=) c.5446G= (p.Gly1816=) c.5347G= (p.Gly1783=) c.5281G= (p.Gly1761=) c.5263G= (p.Gly1755=) c.4915G= (p.Gly1639=) c.4795G= (p.Gly1599=) c.5006G= (p.Arg1669=) n.5037G= c.5422G= (p.Gly1808=) c.5359G= (p.Gly1787=) c.5350G= (p.Gly1784=) c.4960G= (p.Gly1654=) c.4819G= (p.Gly1607=) c.5251G= (p.Gly1751=) | |
8 | g.41668479C>G | CA371051758 | ANK1 | c.5305G>C (p.Gly1769Arg) c.5401G>C (p.Gly1801Arg) c.5218G>C (p.Gly1740Arg) c.5182G>C (p.Gly1728Arg) c.1196G>C c.754G>C c.2660G>C n.2576G>C c.4696G>C (p.Gly1566Arg) c.5446G>C (p.Gly1816Arg) c.5347G>C (p.Gly1783Arg) c.5281G>C (p.Gly1761Arg) c.5263G>C (p.Gly1755Arg) c.4915G>C (p.Gly1639Arg) c.4795G>C (p.Gly1599Arg) c.5006G>C (p.Arg1669Thr) n.5037G>C c.5422G>C (p.Gly1808Arg) c.5359G>C (p.Gly1787Arg) c.5350G>C (p.Gly1784Arg) c.4960G>C (p.Gly1654Arg) c.4819G>C (p.Gly1607Arg) c.5251G>C (p.Gly1751Arg) | |
8 | g.41668479C>T | CA371051759 | ANK1 | c.5305G>A (p.Gly1769Ser) c.5401G>A (p.Gly1801Ser) c.5218G>A (p.Gly1740Ser) c.5182G>A (p.Gly1728Ser) c.1196G>A c.754G>A c.2660G>A n.2576G>A c.4696G>A (p.Gly1566Ser) c.5446G>A (p.Gly1816Ser) c.5347G>A (p.Gly1783Ser) c.5281G>A (p.Gly1761Ser) c.5263G>A (p.Gly1755Ser) c.4915G>A (p.Gly1639Ser) c.4795G>A (p.Gly1599Ser) c.5006G>A (p.Arg1669Lys) n.5037G>A c.5422G>A (p.Gly1808Ser) c.5359G>A (p.Gly1787Ser) c.5350G>A (p.Gly1784Ser) c.4960G>A (p.Gly1654Ser) c.4819G>A (p.Gly1607Ser) c.5251G>A (p.Gly1751Ser) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.41668480T>A | CA371051762 | ANK1 | c.5304A>T (p.Gln1768His) c.5400A>T (p.Gln1800His) c.5217A>T (p.Gln1739His) c.5181A>T (p.Gln1727His) c.1195A>T c.753A>T c.2659A>T n.2575A>T c.4695A>T (p.Gln1565His) c.5445A>T (p.Gln1815His) c.5346A>T (p.Gln1782His) c.5280A>T (p.Gln1760His) c.5262A>T (p.Gln1754His) c.4914A>T (p.Gln1638His) c.4794A>T (p.Gln1598His) c.5005A>T (p.Arg1669Trp) n.5036A>T c.5421A>T (p.Gln1807His) c.5358A>T (p.Gln1786His) c.5349A>T (p.Gln1783His) c.4959A>T (p.Gln1653His) c.4818A>T (p.Gln1606His) c.5250A>T (p.Gln1750His) | |
8 | g.41668480T>C | CA460782090 | ANK1 | c.5304A>G (p.Gln1768=) c.5400A>G (p.Gln1800=) c.5217A>G (p.Gln1739=) c.5181A>G (p.Gln1727=) c.1195A>G c.753A>G c.2659A>G n.2575A>G c.4695A>G (p.Gln1565=) c.5445A>G (p.Gln1815=) c.5346A>G (p.Gln1782=) c.5280A>G (p.Gln1760=) c.5262A>G (p.Gln1754=) c.4914A>G (p.Gln1638=) c.4794A>G (p.Gln1598=) c.5005A>G (p.Arg1669Gly) n.5036A>G c.5421A>G (p.Gln1807=) c.5358A>G (p.Gln1786=) c.5349A>G (p.Gln1783=) c.4959A>G (p.Gln1653=) c.4818A>G (p.Gln1606=) c.5250A>G (p.Gln1750=) | |
8 | g.41668480T>G | CA371051763 | ANK1 | c.5304A>C (p.Gln1768His) c.5400A>C (p.Gln1800His) c.5217A>C (p.Gln1739His) c.5181A>C (p.Gln1727His) c.1195A>C c.753A>C c.2659A>C n.2575A>C c.4695A>C (p.Gln1565His) c.5445A>C (p.Gln1815His) c.5346A>C (p.Gln1782His) c.5280A>C (p.Gln1760His) c.5262A>C (p.Gln1754His) c.4914A>C (p.Gln1638His) c.4794A>C (p.Gln1598His) c.5005A>C (p.Arg1669=) n.5036A>C c.5421A>C (p.Gln1807His) c.5358A>C (p.Gln1786His) c.5349A>C (p.Gln1783His) c.4959A>C (p.Gln1653His) c.4818A>C (p.Gln1606His) c.5250A>C (p.Gln1750His) | |
8 | g.41668481T>A | CA371051767 | ANK1 | c.5303A>T (p.Gln1768Leu) c.5399A>T (p.Gln1800Leu) c.5216A>T (p.Gln1739Leu) c.5180A>T (p.Gln1727Leu) c.1194A>T c.752A>T c.2658A>T n.2574A>T c.4694A>T (p.Gln1565Leu) c.5444A>T (p.Gln1815Leu) c.5345A>T (p.Gln1782Leu) c.5279A>T (p.Gln1760Leu) c.5261A>T (p.Gln1754Leu) c.4913A>T (p.Gln1638Leu) c.4793A>T (p.Gln1598Leu) c.5004A>T (p.Ala1668=) n.5035A>T c.5420A>T (p.Gln1807Leu) c.5357A>T (p.Gln1786Leu) c.5348A>T (p.Gln1783Leu) c.4958A>T (p.Gln1653Leu) c.4817A>T (p.Gln1606Leu) c.5249A>T (p.Gln1750Leu) | |
8 | g.41668481T>C | CA371051769 | ANK1 | c.5303A>G (p.Gln1768Arg) c.5399A>G (p.Gln1800Arg) c.5216A>G (p.Gln1739Arg) c.5180A>G (p.Gln1727Arg) c.1194A>G c.752A>G c.2658A>G n.2574A>G c.4694A>G (p.Gln1565Arg) c.5444A>G (p.Gln1815Arg) c.5345A>G (p.Gln1782Arg) c.5279A>G (p.Gln1760Arg) c.5261A>G (p.Gln1754Arg) c.4913A>G (p.Gln1638Arg) c.4793A>G (p.Gln1598Arg) c.5004A>G (p.Ala1668=) n.5035A>G c.5420A>G (p.Gln1807Arg) c.5357A>G (p.Gln1786Arg) c.5348A>G (p.Gln1783Arg) c.4958A>G (p.Gln1653Arg) c.4817A>G (p.Gln1606Arg) c.5249A>G (p.Gln1750Arg) | |
8 | g.41668481T>G | CA371051765 | ANK1 | c.5303A>C (p.Gln1768Pro) c.5399A>C (p.Gln1800Pro) c.5216A>C (p.Gln1739Pro) c.5180A>C (p.Gln1727Pro) c.1194A>C c.752A>C c.2658A>C n.2574A>C c.4694A>C (p.Gln1565Pro) c.5444A>C (p.Gln1815Pro) c.5345A>C (p.Gln1782Pro) c.5279A>C (p.Gln1760Pro) c.5261A>C (p.Gln1754Pro) c.4913A>C (p.Gln1638Pro) c.4793A>C (p.Gln1598Pro) c.5004A>C (p.Ala1668=) n.5035A>C c.5420A>C (p.Gln1807Pro) c.5357A>C (p.Gln1786Pro) c.5348A>C (p.Gln1783Pro) c.4958A>C (p.Gln1653Pro) c.4817A>C (p.Gln1606Pro) c.5249A>C (p.Gln1750Pro) | |
8 | g.41668482G>A | CA371051771 | ANK1 | c.5302C>T (p.Gln1768Ter) c.5398C>T (p.Gln1800Ter) c.5215C>T (p.Gln1739Ter) c.5179C>T (p.Gln1727Ter) c.1193C>T c.751C>T c.2657C>T n.2573C>T c.4693C>T (p.Gln1565Ter) c.5443C>T (p.Gln1815Ter) c.5344C>T (p.Gln1782Ter) c.5278C>T (p.Gln1760Ter) c.5260C>T (p.Gln1754Ter) c.4912C>T (p.Gln1638Ter) c.4792C>T (p.Gln1598Ter) c.5003C>T (p.Ala1668Val) n.5034C>T c.5419C>T (p.Gln1807Ter) c.5356C>T (p.Gln1786Ter) c.5347C>T (p.Gln1783Ter) c.4957C>T (p.Gln1653Ter) c.4816C>T (p.Gln1606Ter) c.5248C>T (p.Gln1750Ter) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.41668482G>C | CA371051773 | ANK1 | c.5302C>G (p.Gln1768Glu) c.5398C>G (p.Gln1800Glu) c.5215C>G (p.Gln1739Glu) c.5179C>G (p.Gln1727Glu) c.1193C>G c.751C>G c.2657C>G n.2573C>G c.4693C>G (p.Gln1565Glu) c.5443C>G (p.Gln1815Glu) c.5344C>G (p.Gln1782Glu) c.5278C>G (p.Gln1760Glu) c.5260C>G (p.Gln1754Glu) c.4912C>G (p.Gln1638Glu) c.4792C>G (p.Gln1598Glu) c.5003C>G (p.Ala1668Gly) n.5034C>G c.5419C>G (p.Gln1807Glu) c.5356C>G (p.Gln1786Glu) c.5347C>G (p.Gln1783Glu) c.4957C>G (p.Gln1653Glu) c.4816C>G (p.Gln1606Glu) c.5248C>G (p.Gln1750Glu) | |
8 | g.41668482G= | CA1779071277 | ANK1 | c.5302C= (p.Gln1768=) c.5398C= (p.Gln1800=) c.5215C= (p.Gln1739=) c.5179C= (p.Gln1727=) c.1193C= c.751C= c.2657C= n.2573C= c.4693C= (p.Gln1565=) c.5443C= (p.Gln1815=) c.5344C= (p.Gln1782=) c.5278C= (p.Gln1760=) c.5260C= (p.Gln1754=) c.4912C= (p.Gln1638=) c.4792C= (p.Gln1598=) c.5003C= (p.Ala1668=) n.5034C= c.5419C= (p.Gln1807=) c.5356C= (p.Gln1786=) c.5347C= (p.Gln1783=) c.4957C= (p.Gln1653=) c.4816C= (p.Gln1606=) c.5248C= (p.Gln1750=) | |
8 | g.41668482G>T | CA371051774 | ANK1 | c.5302C>A (p.Gln1768Lys) c.5398C>A (p.Gln1800Lys) c.5215C>A (p.Gln1739Lys) c.5179C>A (p.Gln1727Lys) c.1193C>A c.751C>A c.2657C>A n.2573C>A c.4693C>A (p.Gln1565Lys) c.5443C>A (p.Gln1815Lys) c.5344C>A (p.Gln1782Lys) c.5278C>A (p.Gln1760Lys) c.5260C>A (p.Gln1754Lys) c.4912C>A (p.Gln1638Lys) c.4792C>A (p.Gln1598Lys) c.5003C>A (p.Ala1668Glu) n.5034C>A c.5419C>A (p.Gln1807Lys) c.5356C>A (p.Gln1786Lys) c.5347C>A (p.Gln1783Lys) c.4957C>A (p.Gln1653Lys) c.4816C>A (p.Gln1606Lys) c.5248C>A (p.Gln1750Lys) | ClinVar dbSNP gnomAD v4 |
8 | g.41668483C>A | CA4727353 | ANK1 | c.5301G>T (p.Thr1767=) c.5397G>T (p.Thr1799=) c.5214G>T (p.Thr1738=) c.5178G>T (p.Thr1726=) c.1192G>T c.750G>T c.2656G>T n.2572G>T c.4692G>T (p.Thr1564=) c.5442G>T (p.Thr1814=) c.5343G>T (p.Thr1781=) c.5277G>T (p.Thr1759=) c.5259G>T (p.Thr1753=) c.4911G>T (p.Thr1637=) c.4791G>T (p.Thr1597=) c.5002G>T (p.Ala1668Ser) n.5033G>T c.5418G>T (p.Thr1806=) c.5355G>T (p.Thr1785=) c.5346G>T (p.Thr1782=) c.4956G>T (p.Thr1652=) c.4815G>T (p.Thr1605=) c.5247G>T (p.Thr1749=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.41668483C= | CA1779071285 | ANK1 | c.5301G= (p.Thr1767=) c.5397G= (p.Thr1799=) c.5214G= (p.Thr1738=) c.5178G= (p.Thr1726=) c.1192G= c.750G= c.2656G= n.2572G= c.4692G= (p.Thr1564=) c.5442G= (p.Thr1814=) c.5343G= (p.Thr1781=) c.5277G= (p.Thr1759=) c.5259G= (p.Thr1753=) c.4911G= (p.Thr1637=) c.4791G= (p.Thr1597=) c.5002G= (p.Ala1668=) n.5033G= c.5418G= (p.Thr1806=) c.5355G= (p.Thr1785=) c.5346G= (p.Thr1782=) c.4956G= (p.Thr1652=) c.4815G= (p.Thr1605=) c.5247G= (p.Thr1749=) | |
8 | g.41668483C>G | CA460782091 | ANK1 | c.5301G>C (p.Thr1767=) c.5397G>C (p.Thr1799=) c.5214G>C (p.Thr1738=) c.5178G>C (p.Thr1726=) c.1192G>C c.750G>C c.2656G>C n.2572G>C c.4692G>C (p.Thr1564=) c.5442G>C (p.Thr1814=) c.5343G>C (p.Thr1781=) c.5277G>C (p.Thr1759=) c.5259G>C (p.Thr1753=) c.4911G>C (p.Thr1637=) c.4791G>C (p.Thr1597=) c.5002G>C (p.Ala1668Pro) n.5033G>C c.5418G>C (p.Thr1806=) c.5355G>C (p.Thr1785=) c.5346G>C (p.Thr1782=) c.4956G>C (p.Thr1652=) c.4815G>C (p.Thr1605=) c.5247G>C (p.Thr1749=) | |
8 | g.41668483C>T | CA4727354 | ANK1 | c.5301G>A (p.Thr1767=) c.5397G>A (p.Thr1799=) c.5214G>A (p.Thr1738=) c.5178G>A (p.Thr1726=) c.1192G>A c.750G>A c.2656G>A n.2572G>A c.4692G>A (p.Thr1564=) c.5442G>A (p.Thr1814=) c.5343G>A (p.Thr1781=) c.5277G>A (p.Thr1759=) c.5259G>A (p.Thr1753=) c.4911G>A (p.Thr1637=) c.4791G>A (p.Thr1597=) c.5002G>A (p.Ala1668Thr) n.5033G>A c.5418G>A (p.Thr1806=) c.5355G>A (p.Thr1785=) c.5346G>A (p.Thr1782=) c.4956G>A (p.Thr1652=) c.4815G>A (p.Thr1605=) c.5247G>A (p.Thr1749=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
8 | g.41668484G>A | CA4727355 | ANK1 | c.5300C>T (p.Thr1767Met) c.5396C>T (p.Thr1799Met) c.5213C>T (p.Thr1738Met) c.5177C>T (p.Thr1726Met) c.1191C>T c.749C>T c.2655C>T n.2571C>T c.4691C>T (p.Thr1564Met) c.5441C>T (p.Thr1814Met) c.5342C>T (p.Thr1781Met) c.5276C>T (p.Thr1759Met) c.5258C>T (p.Thr1753Met) c.4910C>T (p.Thr1637Met) c.4790C>T (p.Thr1597Met) c.5001C>T (p.His1667=) n.5032C>T c.5417C>T (p.Thr1806Met) c.5354C>T (p.Thr1785Met) c.5345C>T (p.Thr1782Met) c.4955C>T (p.Thr1652Met) c.4814C>T (p.Thr1605Met) c.5246C>T (p.Thr1749Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
8 | g.41668484G>C | CA175914367 | ANK1 | c.5300C>G (p.Thr1767Arg) c.5396C>G (p.Thr1799Arg) c.5213C>G (p.Thr1738Arg) c.5177C>G (p.Thr1726Arg) c.1191C>G c.749C>G c.2655C>G n.2571C>G c.4691C>G (p.Thr1564Arg) c.5441C>G (p.Thr1814Arg) c.5342C>G (p.Thr1781Arg) c.5276C>G (p.Thr1759Arg) c.5258C>G (p.Thr1753Arg) c.4910C>G (p.Thr1637Arg) c.4790C>G (p.Thr1597Arg) c.5001C>G (p.His1667Gln) n.5032C>G c.5417C>G (p.Thr1806Arg) c.5354C>G (p.Thr1785Arg) c.5345C>G (p.Thr1782Arg) c.4955C>G (p.Thr1652Arg) c.4814C>G (p.Thr1605Arg) c.5246C>G (p.Thr1749Arg) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.41668484G= | CA1779071291 | ANK1 | c.5300C= (p.Thr1767=) c.5396C= (p.Thr1799=) c.5213C= (p.Thr1738=) c.5177C= (p.Thr1726=) c.1191C= c.749C= c.2655C= n.2571C= c.4691C= (p.Thr1564=) c.5441C= (p.Thr1814=) c.5342C= (p.Thr1781=) c.5276C= (p.Thr1759=) c.5258C= (p.Thr1753=) c.4910C= (p.Thr1637=) c.4790C= (p.Thr1597=) c.5001C= (p.His1667=) n.5032C= c.5417C= (p.Thr1806=) c.5354C= (p.Thr1785=) c.5345C= (p.Thr1782=) c.4955C= (p.Thr1652=) c.4814C= (p.Thr1605=) c.5246C= (p.Thr1749=) | |
8 | g.41668484G>T | CA371051781 | ANK1 | c.5300C>A (p.Thr1767Lys) c.5396C>A (p.Thr1799Lys) c.5213C>A (p.Thr1738Lys) c.5177C>A (p.Thr1726Lys) c.1191C>A c.749C>A c.2655C>A n.2571C>A c.4691C>A (p.Thr1564Lys) c.5441C>A (p.Thr1814Lys) c.5342C>A (p.Thr1781Lys) c.5276C>A (p.Thr1759Lys) c.5258C>A (p.Thr1753Lys) c.4910C>A (p.Thr1637Lys) c.4790C>A (p.Thr1597Lys) c.5001C>A (p.His1667Gln) n.5032C>A c.5417C>A (p.Thr1806Lys) c.5354C>A (p.Thr1785Lys) c.5345C>A (p.Thr1782Lys) c.4955C>A (p.Thr1652Lys) c.4814C>A (p.Thr1605Lys) c.5246C>A (p.Thr1749Lys) | |
8 | g.41668485T>A | CA371051787 | ANK1 | c.5299A>T (p.Thr1767Ser) c.5395A>T (p.Thr1799Ser) c.5212A>T (p.Thr1738Ser) c.5176A>T (p.Thr1726Ser) c.1190A>T c.748A>T c.2654A>T n.2570A>T c.4690A>T (p.Thr1564Ser) c.5440A>T (p.Thr1814Ser) c.5341A>T (p.Thr1781Ser) c.5275A>T (p.Thr1759Ser) c.5257A>T (p.Thr1753Ser) c.4909A>T (p.Thr1637Ser) c.4789A>T (p.Thr1597Ser) c.5000A>T (p.His1667Leu) n.5031A>T c.5416A>T (p.Thr1806Ser) c.5353A>T (p.Thr1785Ser) c.5344A>T (p.Thr1782Ser) c.4954A>T (p.Thr1652Ser) c.4813A>T (p.Thr1605Ser) c.5245A>T (p.Thr1749Ser) | |
8 | g.41668485T>C | CA371051790 | ANK1 | c.5299A>G (p.Thr1767Ala) c.5395A>G (p.Thr1799Ala) c.5212A>G (p.Thr1738Ala) c.5176A>G (p.Thr1726Ala) c.1190A>G c.748A>G c.2654A>G n.2570A>G c.4690A>G (p.Thr1564Ala) c.5440A>G (p.Thr1814Ala) c.5341A>G (p.Thr1781Ala) c.5275A>G (p.Thr1759Ala) c.5257A>G (p.Thr1753Ala) c.4909A>G (p.Thr1637Ala) c.4789A>G (p.Thr1597Ala) c.5000A>G (p.His1667Arg) n.5031A>G c.5416A>G (p.Thr1806Ala) c.5353A>G (p.Thr1785Ala) c.5344A>G (p.Thr1782Ala) c.4954A>G (p.Thr1652Ala) c.4813A>G (p.Thr1605Ala) c.5245A>G (p.Thr1749Ala) | |
8 | g.41668485T>G | CA371051793 | ANK1 | c.5299A>C (p.Thr1767Pro) c.5395A>C (p.Thr1799Pro) c.5212A>C (p.Thr1738Pro) c.5176A>C (p.Thr1726Pro) c.1190A>C c.748A>C c.2654A>C n.2570A>C c.4690A>C (p.Thr1564Pro) c.5440A>C (p.Thr1814Pro) c.5341A>C (p.Thr1781Pro) c.5275A>C (p.Thr1759Pro) c.5257A>C (p.Thr1753Pro) c.4909A>C (p.Thr1637Pro) c.4789A>C (p.Thr1597Pro) c.5000A>C (p.His1667Pro) n.5031A>C c.5416A>C (p.Thr1806Pro) c.5353A>C (p.Thr1785Pro) c.5344A>C (p.Thr1782Pro) c.4954A>C (p.Thr1652Pro) c.4813A>C (p.Thr1605Pro) c.5245A>C (p.Thr1749Pro) | |
8 | g.41668486G>A | CA460782092 | ANK1 | c.5298C>T (p.Val1766=) c.5394C>T (p.Val1798=) c.5211C>T (p.Val1737=) c.5175C>T (p.Val1725=) c.1189C>T c.747C>T c.2653C>T n.2569C>T c.4689C>T (p.Val1563=) c.5439C>T (p.Val1813=) c.5340C>T (p.Val1780=) c.5274C>T (p.Val1758=) c.5256C>T (p.Val1752=) c.4908C>T (p.Val1636=) c.4788C>T (p.Val1596=) c.4999C>T (p.His1667Tyr) n.5030C>T c.5415C>T (p.Val1805=) c.5352C>T (p.Val1784=) c.5343C>T (p.Val1781=) c.4953C>T (p.Val1651=) c.4812C>T (p.Val1604=) c.5244C>T (p.Val1748=) | |
8 | g.41668486G>C | CA460782093 | ANK1 | c.5298C>G (p.Val1766=) c.5394C>G (p.Val1798=) c.5211C>G (p.Val1737=) c.5175C>G (p.Val1725=) c.1189C>G c.747C>G c.2653C>G n.2569C>G c.4689C>G (p.Val1563=) c.5439C>G (p.Val1813=) c.5340C>G (p.Val1780=) c.5274C>G (p.Val1758=) c.5256C>G (p.Val1752=) c.4908C>G (p.Val1636=) c.4788C>G (p.Val1596=) c.4999C>G (p.His1667Asp) n.5030C>G c.5415C>G (p.Val1805=) c.5352C>G (p.Val1784=) c.5343C>G (p.Val1781=) c.4953C>G (p.Val1651=) c.4812C>G (p.Val1604=) c.5244C>G (p.Val1748=) | |
8 | g.41668486G>T | CA460782094 | ANK1 | c.5298C>A (p.Val1766=) c.5394C>A (p.Val1798=) c.5211C>A (p.Val1737=) c.5175C>A (p.Val1725=) c.1189C>A c.747C>A c.2653C>A n.2569C>A c.4689C>A (p.Val1563=) c.5439C>A (p.Val1813=) c.5340C>A (p.Val1780=) c.5274C>A (p.Val1758=) c.5256C>A (p.Val1752=) c.4908C>A (p.Val1636=) c.4788C>A (p.Val1596=) c.4999C>A (p.His1667Asn) n.5030C>A c.5415C>A (p.Val1805=) c.5352C>A (p.Val1784=) c.5343C>A (p.Val1781=) c.4953C>A (p.Val1651=) c.4812C>A (p.Val1604=) c.5244C>A (p.Val1748=) | |
8 | g.41668487A>C | CA371051797 | ANK1 | c.5297T>G (p.Val1766Gly) c.5393T>G (p.Val1798Gly) c.5210T>G (p.Val1737Gly) c.5174T>G (p.Val1725Gly) c.1188T>G c.746T>G c.2652T>G n.2568T>G c.4688T>G (p.Val1563Gly) c.5438T>G (p.Val1813Gly) c.5339T>G (p.Val1780Gly) c.5273T>G (p.Val1758Gly) c.5255T>G (p.Val1752Gly) c.4907T>G (p.Val1636Gly) c.4787T>G (p.Val1596Gly) c.4998T>G (p.Gly1666=) n.5029T>G c.5414T>G (p.Val1805Gly) c.5351T>G (p.Val1784Gly) c.5342T>G (p.Val1781Gly) c.4952T>G (p.Val1651Gly) c.4811T>G (p.Val1604Gly) c.5243T>G (p.Val1748Gly) | |
8 | g.41668487A>G | CA371051799 | ANK1 | c.5297T>C (p.Val1766Ala) c.5393T>C (p.Val1798Ala) c.5210T>C (p.Val1737Ala) c.5174T>C (p.Val1725Ala) c.1188T>C c.746T>C c.2652T>C n.2568T>C c.4688T>C (p.Val1563Ala) c.5438T>C (p.Val1813Ala) c.5339T>C (p.Val1780Ala) c.5273T>C (p.Val1758Ala) c.5255T>C (p.Val1752Ala) c.4907T>C (p.Val1636Ala) c.4787T>C (p.Val1596Ala) c.4998T>C (p.Gly1666=) n.5029T>C c.5414T>C (p.Val1805Ala) c.5351T>C (p.Val1784Ala) c.5342T>C (p.Val1781Ala) c.4952T>C (p.Val1651Ala) c.4811T>C (p.Val1604Ala) c.5243T>C (p.Val1748Ala) | |
8 | g.41668487A>T | CA371051802 | ANK1 | c.5297T>A (p.Val1766Asp) c.5393T>A (p.Val1798Asp) c.5210T>A (p.Val1737Asp) c.5174T>A (p.Val1725Asp) c.1188T>A c.746T>A c.2652T>A n.2568T>A c.4688T>A (p.Val1563Asp) c.5438T>A (p.Val1813Asp) c.5339T>A (p.Val1780Asp) c.5273T>A (p.Val1758Asp) c.5255T>A (p.Val1752Asp) c.4907T>A (p.Val1636Asp) c.4787T>A (p.Val1596Asp) c.4998T>A (p.Gly1666=) n.5029T>A c.5414T>A (p.Val1805Asp) c.5351T>A (p.Val1784Asp) c.5342T>A (p.Val1781Asp) c.4952T>A (p.Val1651Asp) c.4811T>A (p.Val1604Asp) c.5243T>A (p.Val1748Asp) | |
8 | g.41668488C>A | CA371051810 | ANK1 | c.5296G>T (p.Val1766Phe) c.5392G>T (p.Val1798Phe) c.5209G>T (p.Val1737Phe) c.5173G>T (p.Val1725Phe) c.1187G>T c.745G>T c.2651G>T n.2567G>T c.4687G>T (p.Val1563Phe) c.5437G>T (p.Val1813Phe) c.5338G>T (p.Val1780Phe) c.5272G>T (p.Val1758Phe) c.5254G>T (p.Val1752Phe) c.4906G>T (p.Val1636Phe) c.4786G>T (p.Val1596Phe) c.4997G>T (p.Gly1666Val) n.5028G>T c.5413G>T (p.Val1805Phe) c.5350G>T (p.Val1784Phe) c.5341G>T (p.Val1781Phe) c.4951G>T (p.Val1651Phe) c.4810G>T (p.Val1604Phe) c.5242G>T (p.Val1748Phe) | |
8 | g.41668488C>G | CA371051812 | ANK1 | c.5296G>C (p.Val1766Leu) c.5392G>C (p.Val1798Leu) c.5209G>C (p.Val1737Leu) c.5173G>C (p.Val1725Leu) c.1187G>C c.745G>C c.2651G>C n.2567G>C c.4687G>C (p.Val1563Leu) c.5437G>C (p.Val1813Leu) c.5338G>C (p.Val1780Leu) c.5272G>C (p.Val1758Leu) c.5254G>C (p.Val1752Leu) c.4906G>C (p.Val1636Leu) c.4786G>C (p.Val1596Leu) c.4997G>C (p.Gly1666Ala) n.5028G>C c.5413G>C (p.Val1805Leu) c.5350G>C (p.Val1784Leu) c.5341G>C (p.Val1781Leu) c.4951G>C (p.Val1651Leu) c.4810G>C (p.Val1604Leu) c.5242G>C (p.Val1748Leu) | |
8 | g.41668488C>T | CA371051807 | ANK1 | c.5296G>A (p.Val1766Ile) c.5392G>A (p.Val1798Ile) c.5209G>A (p.Val1737Ile) c.5173G>A (p.Val1725Ile) c.1187G>A c.745G>A c.2651G>A n.2567G>A c.4687G>A (p.Val1563Ile) c.5437G>A (p.Val1813Ile) c.5338G>A (p.Val1780Ile) c.5272G>A (p.Val1758Ile) c.5254G>A (p.Val1752Ile) c.4906G>A (p.Val1636Ile) c.4786G>A (p.Val1596Ile) c.4997G>A (p.Gly1666Asp) n.5028G>A c.5413G>A (p.Val1805Ile) c.5350G>A (p.Val1784Ile) c.5341G>A (p.Val1781Ile) c.4951G>A (p.Val1651Ile) c.4810G>A (p.Val1604Ile) c.5242G>A (p.Val1748Ile) | |
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.41668489C>A | CA371051815 | ANK1 | c.5295G>T (p.Glu1765Asp) c.5391G>T (p.Glu1797Asp) c.5208G>T (p.Glu1736Asp) c.5172G>T (p.Glu1724Asp) c.1186G>T c.744G>T c.2650G>T n.2566G>T c.4686G>T (p.Glu1562Asp) c.5436G>T (p.Glu1812Asp) c.5337G>T (p.Glu1779Asp) c.5271G>T (p.Glu1757Asp) c.5253G>T (p.Glu1751Asp) c.4905G>T (p.Glu1635Asp) c.4785G>T (p.Glu1595Asp) c.4996G>T (p.Gly1666Cys) n.5027G>T c.5412G>T (p.Glu1804Asp) c.5349G>T (p.Glu1783Asp) c.5340G>T (p.Glu1780Asp) c.4950G>T (p.Glu1650Asp) c.4809G>T (p.Glu1603Asp) c.5241G>T (p.Glu1747Asp) | |
8 | g.41668489C= | CA1779071298 | ANK1 | c.5295G= (p.Glu1765=) c.5391G= (p.Glu1797=) c.5208G= (p.Glu1736=) c.5172G= (p.Glu1724=) c.1186G= c.744G= c.2650G= n.2566G= c.4686G= (p.Glu1562=) c.5436G= (p.Glu1812=) c.5337G= (p.Glu1779=) c.5271G= (p.Glu1757=) c.5253G= (p.Glu1751=) c.4905G= (p.Glu1635=) c.4785G= (p.Glu1595=) c.4996G= (p.Gly1666=) n.5027G= c.5412G= (p.Glu1804=) c.5349G= (p.Glu1783=) c.5340G= (p.Glu1780=) c.4950G= (p.Glu1650=) c.4809G= (p.Glu1603=) c.5241G= (p.Glu1747=) | |
8 | g.41668489C>G | CA175914374 | ANK1 | c.5295G>C (p.Glu1765Asp) c.5391G>C (p.Glu1797Asp) c.5208G>C (p.Glu1736Asp) c.5172G>C (p.Glu1724Asp) c.1186G>C c.744G>C c.2650G>C n.2566G>C c.4686G>C (p.Glu1562Asp) c.5436G>C (p.Glu1812Asp) c.5337G>C (p.Glu1779Asp) c.5271G>C (p.Glu1757Asp) c.5253G>C (p.Glu1751Asp) c.4905G>C (p.Glu1635Asp) c.4785G>C (p.Glu1595Asp) c.4996G>C (p.Gly1666Arg) n.5027G>C c.5412G>C (p.Glu1804Asp) c.5349G>C (p.Glu1783Asp) c.5340G>C (p.Glu1780Asp) c.4950G>C (p.Glu1650Asp) c.4809G>C (p.Glu1603Asp) c.5241G>C (p.Glu1747Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.41668489C>T | CA460782095 | ANK1 | c.5295G>A (p.Glu1765=) c.5391G>A (p.Glu1797=) c.5208G>A (p.Glu1736=) c.5172G>A (p.Glu1724=) c.1186G>A c.744G>A c.2650G>A n.2566G>A c.4686G>A (p.Glu1562=) c.5436G>A (p.Glu1812=) c.5337G>A (p.Glu1779=) c.5271G>A (p.Glu1757=) c.5253G>A (p.Glu1751=) c.4905G>A (p.Glu1635=) c.4785G>A (p.Glu1595=) c.4996G>A (p.Gly1666Ser) n.5027G>A c.5412G>A (p.Glu1804=) c.5349G>A (p.Glu1783=) c.5340G>A (p.Glu1780=) c.4950G>A (p.Glu1650=) c.4809G>A (p.Glu1603=) c.5241G>A (p.Glu1747=) | |
8 | g.41668490T>A | CA371051821 | ANK1 | c.5294A>T (p.Glu1765Val) c.5390A>T (p.Glu1797Val) c.5207A>T (p.Glu1736Val) c.5171A>T (p.Glu1724Val) c.1185A>T c.743A>T c.2649A>T n.2565A>T c.4685A>T (p.Glu1562Val) c.5435A>T (p.Glu1812Val) c.5336A>T (p.Glu1779Val) c.5270A>T (p.Glu1757Val) c.5252A>T (p.Glu1751Val) c.4904A>T (p.Glu1635Val) c.4784A>T (p.Glu1595Val) c.4995A>T (p.Gly1665=) n.5026A>T c.5411A>T (p.Glu1804Val) c.5348A>T (p.Glu1783Val) c.5339A>T (p.Glu1780Val) c.4949A>T (p.Glu1650Val) c.4808A>T (p.Glu1603Val) c.5240A>T (p.Glu1747Val) | |
8 | g.41668490T>C | CA371051823 | ANK1 | c.5294A>G (p.Glu1765Gly) c.5390A>G (p.Glu1797Gly) c.5207A>G (p.Glu1736Gly) c.5171A>G (p.Glu1724Gly) c.1185A>G c.743A>G c.2649A>G n.2565A>G c.4685A>G (p.Glu1562Gly) c.5435A>G (p.Glu1812Gly) c.5336A>G (p.Glu1779Gly) c.5270A>G (p.Glu1757Gly) c.5252A>G (p.Glu1751Gly) c.4904A>G (p.Glu1635Gly) c.4784A>G (p.Glu1595Gly) c.4995A>G (p.Gly1665=) n.5026A>G c.5411A>G (p.Glu1804Gly) c.5348A>G (p.Glu1783Gly) c.5339A>G (p.Glu1780Gly) c.4949A>G (p.Glu1650Gly) c.4808A>G (p.Glu1603Gly) c.5240A>G (p.Glu1747Gly) | |
8 | g.41668490T>G | CA371051827 | ANK1 | c.5294A>C (p.Glu1765Ala) c.5390A>C (p.Glu1797Ala) c.5207A>C (p.Glu1736Ala) c.5171A>C (p.Glu1724Ala) c.1185A>C c.743A>C c.2649A>C n.2565A>C c.4685A>C (p.Glu1562Ala) c.5435A>C (p.Glu1812Ala) c.5336A>C (p.Glu1779Ala) c.5270A>C (p.Glu1757Ala) c.5252A>C (p.Glu1751Ala) c.4904A>C (p.Glu1635Ala) c.4784A>C (p.Glu1595Ala) c.4995A>C (p.Gly1665=) n.5026A>C c.5411A>C (p.Glu1804Ala) c.5348A>C (p.Glu1783Ala) c.5339A>C (p.Glu1780Ala) c.4949A>C (p.Glu1650Ala) c.4808A>C (p.Glu1603Ala) c.5240A>C (p.Glu1747Ala) | |
8 | g.41668491C>A | CA371051833 | ANK1 | c.5293G>T (p.Glu1765Ter) c.5389G>T (p.Glu1797Ter) c.5206G>T (p.Glu1736Ter) c.5170G>T (p.Glu1724Ter) c.1184G>T c.742G>T c.2648G>T n.2564G>T c.4684G>T (p.Glu1562Ter) c.5434G>T (p.Glu1812Ter) c.5335G>T (p.Glu1779Ter) c.5269G>T (p.Glu1757Ter) c.5251G>T (p.Glu1751Ter) c.4903G>T (p.Glu1635Ter) c.4783G>T (p.Glu1595Ter) c.4994G>T (p.Gly1665Val) n.5025G>T c.5410G>T (p.Glu1804Ter) c.5347G>T (p.Glu1783Ter) c.5338G>T (p.Glu1780Ter) c.4948G>T (p.Glu1650Ter) c.4807G>T (p.Glu1603Ter) c.5239G>T (p.Glu1747Ter) | |
8 | g.41668491C>G | CA371051835 | ANK1 | c.5293G>C (p.Glu1765Gln) c.5389G>C (p.Glu1797Gln) c.5206G>C (p.Glu1736Gln) c.5170G>C (p.Glu1724Gln) c.1184G>C c.742G>C c.2648G>C n.2564G>C c.4684G>C (p.Glu1562Gln) c.5434G>C (p.Glu1812Gln) c.5335G>C (p.Glu1779Gln) c.5269G>C (p.Glu1757Gln) c.5251G>C (p.Glu1751Gln) c.4903G>C (p.Glu1635Gln) c.4783G>C (p.Glu1595Gln) c.4994G>C (p.Gly1665Ala) n.5025G>C c.5410G>C (p.Glu1804Gln) c.5347G>C (p.Glu1783Gln) c.5338G>C (p.Glu1780Gln) c.4948G>C (p.Glu1650Gln) c.4807G>C (p.Glu1603Gln) c.5239G>C (p.Glu1747Gln) | |
8 | g.41668491C>T | CA371051838 | ANK1 | c.5293G>A (p.Glu1765Lys) c.5389G>A (p.Glu1797Lys) c.5206G>A (p.Glu1736Lys) c.5170G>A (p.Glu1724Lys) c.1184G>A c.742G>A c.2648G>A n.2564G>A c.4684G>A (p.Glu1562Lys) c.5434G>A (p.Glu1812Lys) c.5335G>A (p.Glu1779Lys) c.5269G>A (p.Glu1757Lys) c.5251G>A (p.Glu1751Lys) c.4903G>A (p.Glu1635Lys) c.4783G>A (p.Glu1595Lys) c.4994G>A (p.Gly1665Glu) n.5025G>A c.5410G>A (p.Glu1804Lys) c.5347G>A (p.Glu1783Lys) c.5338G>A (p.Glu1780Lys) c.4948G>A (p.Glu1650Lys) c.4807G>A (p.Glu1603Lys) c.5239G>A (p.Glu1747Lys) | |
8 | g.41668492C>A | CA371051842 | ANK1 | c.5292G>T (p.Glu1764Asp) c.5388G>T (p.Glu1796Asp) c.5205G>T (p.Glu1735Asp) c.5169G>T (p.Glu1723Asp) c.1183G>T c.741G>T c.2647G>T n.2563G>T c.4683G>T (p.Glu1561Asp) c.5433G>T (p.Glu1811Asp) c.5334G>T (p.Glu1778Asp) c.5268G>T (p.Glu1756Asp) c.5250G>T (p.Glu1750Asp) c.4902G>T (p.Glu1634Asp) c.4782G>T (p.Glu1594Asp) c.4993G>T (p.Gly1665Ter) n.5024G>T c.5409G>T (p.Glu1803Asp) c.5346G>T (p.Glu1782Asp) c.5337G>T (p.Glu1779Asp) c.4947G>T (p.Glu1649Asp) c.4806G>T (p.Glu1602Asp) c.5238G>T (p.Glu1746Asp) | |
8 | g.41668492C>G | CA371051844 | ANK1 | c.5292G>C (p.Glu1764Asp) c.5388G>C (p.Glu1796Asp) c.5205G>C (p.Glu1735Asp) c.5169G>C (p.Glu1723Asp) c.1183G>C c.741G>C c.2647G>C n.2563G>C c.4683G>C (p.Glu1561Asp) c.5433G>C (p.Glu1811Asp) c.5334G>C (p.Glu1778Asp) c.5268G>C (p.Glu1756Asp) c.5250G>C (p.Glu1750Asp) c.4902G>C (p.Glu1634Asp) c.4782G>C (p.Glu1594Asp) c.4993G>C (p.Gly1665Arg) n.5024G>C c.5409G>C (p.Glu1803Asp) c.5346G>C (p.Glu1782Asp) c.5337G>C (p.Glu1779Asp) c.4947G>C (p.Glu1649Asp) c.4806G>C (p.Glu1602Asp) c.5238G>C (p.Glu1746Asp) | |
8 | g.41668492C>T | CA460782096 | ANK1 | c.5292G>A (p.Glu1764=) c.5388G>A (p.Glu1796=) c.5205G>A (p.Glu1735=) c.5169G>A (p.Glu1723=) c.1183G>A c.741G>A c.2647G>A n.2563G>A c.4683G>A (p.Glu1561=) c.5433G>A (p.Glu1811=) c.5334G>A (p.Glu1778=) c.5268G>A (p.Glu1756=) c.5250G>A (p.Glu1750=) c.4902G>A (p.Glu1634=) c.4782G>A (p.Glu1594=) c.4993G>A (p.Gly1665Arg) n.5024G>A c.5409G>A (p.Glu1803=) c.5346G>A (p.Glu1782=) c.5337G>A (p.Glu1779=) c.4947G>A (p.Glu1649=) c.4806G>A (p.Glu1602=) c.5238G>A (p.Glu1746=) | gnomAD v4 |
8 | g.41668493T>A | CA371051849 | ANK1 | c.5291A>T (p.Glu1764Val) c.5387A>T (p.Glu1796Val) c.5204A>T (p.Glu1735Val) c.5168A>T (p.Glu1723Val) c.1182A>T c.740A>T c.2646A>T n.2562A>T c.4682A>T (p.Glu1561Val) c.5432A>T (p.Glu1811Val) c.5333A>T (p.Glu1778Val) c.5267A>T (p.Glu1756Val) c.5249A>T (p.Glu1750Val) c.4901A>T (p.Glu1634Val) c.4781A>T (p.Glu1594Val) c.4992A>T (p.Arg1664Ser) n.5023A>T c.5408A>T (p.Glu1803Val) c.5345A>T (p.Glu1782Val) c.5336A>T (p.Glu1779Val) c.4946A>T (p.Glu1649Val) c.4805A>T (p.Glu1602Val) c.5237A>T (p.Glu1746Val) | |
8 | g.41668493T>C | CA371051852 | ANK1 | c.5291A>G (p.Glu1764Gly) c.5387A>G (p.Glu1796Gly) c.5204A>G (p.Glu1735Gly) c.5168A>G (p.Glu1723Gly) c.1182A>G c.740A>G c.2646A>G n.2562A>G c.4682A>G (p.Glu1561Gly) c.5432A>G (p.Glu1811Gly) c.5333A>G (p.Glu1778Gly) c.5267A>G (p.Glu1756Gly) c.5249A>G (p.Glu1750Gly) c.4901A>G (p.Glu1634Gly) c.4781A>G (p.Glu1594Gly) c.4992A>G (p.Arg1664=) n.5023A>G c.5408A>G (p.Glu1803Gly) c.5345A>G (p.Glu1782Gly) c.5336A>G (p.Glu1779Gly) c.4946A>G (p.Glu1649Gly) c.4805A>G (p.Glu1602Gly) c.5237A>G (p.Glu1746Gly) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.41668493T>G | CA371051854 | ANK1 | c.5291A>C (p.Glu1764Ala) c.5387A>C (p.Glu1796Ala) c.5204A>C (p.Glu1735Ala) c.5168A>C (p.Glu1723Ala) c.1182A>C c.740A>C c.2646A>C n.2562A>C c.4682A>C (p.Glu1561Ala) c.5432A>C (p.Glu1811Ala) c.5333A>C (p.Glu1778Ala) c.5267A>C (p.Glu1756Ala) c.5249A>C (p.Glu1750Ala) c.4901A>C (p.Glu1634Ala) c.4781A>C (p.Glu1594Ala) c.4992A>C (p.Arg1664Ser) n.5023A>C c.5408A>C (p.Glu1803Ala) c.5345A>C (p.Glu1782Ala) c.5336A>C (p.Glu1779Ala) c.4946A>C (p.Glu1649Ala) c.4805A>C (p.Glu1602Ala) c.5237A>C (p.Glu1746Ala) | |
8 | g.41668493T= | CA1779071302 | ANK1 | c.5291A= (p.Glu1764=) c.5387A= (p.Glu1796=) c.5204A= (p.Glu1735=) c.5168A= (p.Glu1723=) c.1182A= c.740A= c.2646A= n.2562A= c.4682A= (p.Glu1561=) c.5432A= (p.Glu1811=) c.5333A= (p.Glu1778=) c.5267A= (p.Glu1756=) c.5249A= (p.Glu1750=) c.4901A= (p.Glu1634=) c.4781A= (p.Glu1594=) c.4992A= (p.Arg1664=) n.5023A= c.5408A= (p.Glu1803=) c.5345A= (p.Glu1782=) c.5336A= (p.Glu1779=) c.4946A= (p.Glu1649=) c.4805A= (p.Glu1602=) c.5237A= (p.Glu1746=) | |
8 | g.41668494C>A | CA371051858 | ANK1 | c.5290G>T (p.Glu1764Ter) c.5386G>T (p.Glu1796Ter) c.5203G>T (p.Glu1735Ter) c.5167G>T (p.Glu1723Ter) c.1181G>T c.739G>T c.2645G>T n.2561G>T c.4681G>T (p.Glu1561Ter) c.5431G>T (p.Glu1811Ter) c.5332G>T (p.Glu1778Ter) c.5266G>T (p.Glu1756Ter) c.5248G>T (p.Glu1750Ter) c.4900G>T (p.Glu1634Ter) c.4780G>T (p.Glu1594Ter) c.4991G>T (p.Arg1664Ile) n.5022G>T c.5407G>T (p.Glu1803Ter) c.5344G>T (p.Glu1782Ter) c.5335G>T (p.Glu1779Ter) c.4945G>T (p.Glu1649Ter) c.4804G>T (p.Glu1602Ter) c.5236G>T (p.Glu1746Ter) | ClinVar |
8 | g.41668494C= | CA1779071308 | ANK1 | c.5290G= (p.Glu1764=) c.5386G= (p.Glu1796=) c.5203G= (p.Glu1735=) c.5167G= (p.Glu1723=) c.1181G= c.739G= c.2645G= n.2561G= c.4681G= (p.Glu1561=) c.5431G= (p.Glu1811=) c.5332G= (p.Glu1778=) c.5266G= (p.Glu1756=) c.5248G= (p.Glu1750=) c.4900G= (p.Glu1634=) c.4780G= (p.Glu1594=) c.4991G= (p.Arg1664=) n.5022G= c.5407G= (p.Glu1803=) c.5344G= (p.Glu1782=) c.5335G= (p.Glu1779=) c.4945G= (p.Glu1649=) c.4804G= (p.Glu1602=) c.5236G= (p.Glu1746=) | |
8 | g.41668494C>G | CA371051863 | ANK1 | c.5290G>C (p.Glu1764Gln) c.5386G>C (p.Glu1796Gln) c.5203G>C (p.Glu1735Gln) c.5167G>C (p.Glu1723Gln) c.1181G>C c.739G>C c.2645G>C n.2561G>C c.4681G>C (p.Glu1561Gln) c.5431G>C (p.Glu1811Gln) c.5332G>C (p.Glu1778Gln) c.5266G>C (p.Glu1756Gln) c.5248G>C (p.Glu1750Gln) c.4900G>C (p.Glu1634Gln) c.4780G>C (p.Glu1594Gln) c.4991G>C (p.Arg1664Thr) n.5022G>C c.5407G>C (p.Glu1803Gln) c.5344G>C (p.Glu1782Gln) c.5335G>C (p.Glu1779Gln) c.4945G>C (p.Glu1649Gln) c.4804G>C (p.Glu1602Gln) c.5236G>C (p.Glu1746Gln) | |
8 | g.41668494C>T | CA4727356 | ANK1 | c.5290G>A (p.Glu1764Lys) c.5386G>A (p.Glu1796Lys) c.5203G>A (p.Glu1735Lys) c.5167G>A (p.Glu1723Lys) c.1181G>A c.739G>A c.2645G>A n.2561G>A c.4681G>A (p.Glu1561Lys) c.5431G>A (p.Glu1811Lys) c.5332G>A (p.Glu1778Lys) c.5266G>A (p.Glu1756Lys) c.5248G>A (p.Glu1750Lys) c.4900G>A (p.Glu1634Lys) c.4780G>A (p.Glu1594Lys) c.4991G>A (p.Arg1664Lys) n.5022G>A c.5407G>A (p.Glu1803Lys) c.5344G>A (p.Glu1782Lys) c.5335G>A (p.Glu1779Lys) c.4945G>A (p.Glu1649Lys) c.4804G>A (p.Glu1602Lys) c.5236G>A (p.Glu1746Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
8 | g.41668495T>A | CA371051868 | ANK1 | c.5289A>T (p.Gln1763His) c.5385A>T (p.Gln1795His) c.5202A>T (p.Gln1734His) c.5166A>T (p.Gln1722His) c.1180A>T c.738A>T c.2644A>T n.2560A>T c.4680A>T (p.Gln1560His) c.5430A>T (p.Gln1810His) c.5331A>T (p.Gln1777His) c.5265A>T (p.Gln1755His) c.5247A>T (p.Gln1749His) c.4899A>T (p.Gln1633His) c.4779A>T (p.Gln1593His) c.4990A>T (p.Arg1664Ter) n.5021A>T c.5406A>T (p.Gln1802His) c.5343A>T (p.Gln1781His) c.5334A>T (p.Gln1778His) c.4944A>T (p.Gln1648His) c.4803A>T (p.Gln1601His) c.5235A>T (p.Gln1745His) | |
8 | g.41668495T>C | CA460782097 | ANK1 | c.5289A>G (p.Gln1763=) c.5385A>G (p.Gln1795=) c.5202A>G (p.Gln1734=) c.5166A>G (p.Gln1722=) c.1180A>G c.738A>G c.2644A>G n.2560A>G c.4680A>G (p.Gln1560=) c.5430A>G (p.Gln1810=) c.5331A>G (p.Gln1777=) c.5265A>G (p.Gln1755=) c.5247A>G (p.Gln1749=) c.4899A>G (p.Gln1633=) c.4779A>G (p.Gln1593=) c.4990A>G (p.Arg1664Gly) n.5021A>G c.5406A>G (p.Gln1802=) c.5343A>G (p.Gln1781=) c.5334A>G (p.Gln1778=) c.4944A>G (p.Gln1648=) c.4803A>G (p.Gln1601=) c.5235A>G (p.Gln1745=) | |
8 | g.41668495T>G | CA371051870 | ANK1 | c.5289A>C (p.Gln1763His) c.5385A>C (p.Gln1795His) c.5202A>C (p.Gln1734His) c.5166A>C (p.Gln1722His) c.1180A>C c.738A>C c.2644A>C n.2560A>C c.4680A>C (p.Gln1560His) c.5430A>C (p.Gln1810His) c.5331A>C (p.Gln1777His) c.5265A>C (p.Gln1755His) c.5247A>C (p.Gln1749His) c.4899A>C (p.Gln1633His) c.4779A>C (p.Gln1593His) c.4990A>C (p.Arg1664=) n.5021A>C c.5406A>C (p.Gln1802His) c.5343A>C (p.Gln1781His) c.5334A>C (p.Gln1778His) c.4944A>C (p.Gln1648His) c.4803A>C (p.Gln1601His) c.5235A>C (p.Gln1745His) | |
8 | g.41668496T>A | CA371051875 | ANK1 | c.5288A>T (p.Gln1763Leu) c.5384A>T (p.Gln1795Leu) c.5201A>T (p.Gln1734Leu) c.5165A>T (p.Gln1722Leu) c.1179A>T c.737A>T c.2643A>T n.2559A>T c.4679A>T (p.Gln1560Leu) c.5429A>T (p.Gln1810Leu) c.5330A>T (p.Gln1777Leu) c.5264A>T (p.Gln1755Leu) c.5246A>T (p.Gln1749Leu) c.4898A>T (p.Gln1633Leu) c.4778A>T (p.Gln1593Leu) c.4989A>T (p.Ala1663=) n.5020A>T c.5405A>T (p.Gln1802Leu) c.5342A>T (p.Gln1781Leu) c.5333A>T (p.Gln1778Leu) c.4943A>T (p.Gln1648Leu) c.4802A>T (p.Gln1601Leu) c.5234A>T (p.Gln1745Leu) | |
8 | g.41668496T>C | CA371051877 | ANK1 | c.5288A>G (p.Gln1763Arg) c.5384A>G (p.Gln1795Arg) c.5201A>G (p.Gln1734Arg) c.5165A>G (p.Gln1722Arg) c.1179A>G c.737A>G c.2643A>G n.2559A>G c.4679A>G (p.Gln1560Arg) c.5429A>G (p.Gln1810Arg) c.5330A>G (p.Gln1777Arg) c.5264A>G (p.Gln1755Arg) c.5246A>G (p.Gln1749Arg) c.4898A>G (p.Gln1633Arg) c.4778A>G (p.Gln1593Arg) c.4989A>G (p.Ala1663=) n.5020A>G c.5405A>G (p.Gln1802Arg) c.5342A>G (p.Gln1781Arg) c.5333A>G (p.Gln1778Arg) c.4943A>G (p.Gln1648Arg) c.4802A>G (p.Gln1601Arg) c.5234A>G (p.Gln1745Arg) | |
8 | g.41668496T>G | CA371051881 | ANK1 | c.5288A>C (p.Gln1763Pro) c.5384A>C (p.Gln1795Pro) c.5201A>C (p.Gln1734Pro) c.5165A>C (p.Gln1722Pro) c.1179A>C c.737A>C c.2643A>C n.2559A>C c.4679A>C (p.Gln1560Pro) c.5429A>C (p.Gln1810Pro) c.5330A>C (p.Gln1777Pro) c.5264A>C (p.Gln1755Pro) c.5246A>C (p.Gln1749Pro) c.4898A>C (p.Gln1633Pro) c.4778A>C (p.Gln1593Pro) c.4989A>C (p.Ala1663=) n.5020A>C c.5405A>C (p.Gln1802Pro) c.5342A>C (p.Gln1781Pro) c.5333A>C (p.Gln1778Pro) c.4943A>C (p.Gln1648Pro) c.4802A>C (p.Gln1601Pro) c.5234A>C (p.Gln1745Pro) | |
8 | g.41668497del | CA2697549852 | ANK1 | c.5287del (p.Gln1763LysfsTer17) c.5383del (p.Gln1795LysfsTer17) c.5200del (p.Gln1734LysfsTer17) c.5164del (p.Gln1722LysfsTer17) c.1178del c.736del c.2642del n.2558del c.4678del (p.Gln1560LysfsTer17) c.5428del (p.Gln1810LysfsTer17) c.5329del (p.Gln1777LysfsTer17) c.5263del (p.Gln1755LysfsTer17) c.5245del (p.Gln1749LysfsTer17) c.4897del (p.Gln1633LysfsTer17) c.4777del (p.Gln1593LysfsTer17) c.4988del (p.Ala1663GlufsTer?) n.5019del c.5404del (p.Gln1802LysfsTer17) c.5341del (p.Gln1781LysfsTer17) c.5332del (p.Gln1778LysfsTer17) c.4942del (p.Gln1648LysfsTer17) c.4801del (p.Gln1601LysfsTer17) c.5233del (p.Gln1745LysfsTer17) | ClinVar |
8 | g.41668497G>A | CA371051885 | ANK1 | c.5287C>T (p.Gln1763Ter) c.5383C>T (p.Gln1795Ter) c.5200C>T (p.Gln1734Ter) c.5164C>T (p.Gln1722Ter) c.1178C>T c.736C>T c.2642C>T n.2558C>T c.4678C>T (p.Gln1560Ter) c.5428C>T (p.Gln1810Ter) c.5329C>T (p.Gln1777Ter) c.5263C>T (p.Gln1755Ter) c.5245C>T (p.Gln1749Ter) c.4897C>T (p.Gln1633Ter) c.4777C>T (p.Gln1593Ter) c.4988C>T (p.Ala1663Val) n.5019C>T c.5404C>T (p.Gln1802Ter) c.5341C>T (p.Gln1781Ter) c.5332C>T (p.Gln1778Ter) c.4942C>T (p.Gln1648Ter) c.4801C>T (p.Gln1601Ter) c.5233C>T (p.Gln1745Ter) | |
8 | g.41668497G>C | CA371051887 | ANK1 | c.5287C>G (p.Gln1763Glu) c.5383C>G (p.Gln1795Glu) c.5200C>G (p.Gln1734Glu) c.5164C>G (p.Gln1722Glu) c.1178C>G c.736C>G c.2642C>G n.2558C>G c.4678C>G (p.Gln1560Glu) c.5428C>G (p.Gln1810Glu) c.5329C>G (p.Gln1777Glu) c.5263C>G (p.Gln1755Glu) c.5245C>G (p.Gln1749Glu) c.4897C>G (p.Gln1633Glu) c.4777C>G (p.Gln1593Glu) c.4988C>G (p.Ala1663Gly) n.5019C>G c.5404C>G (p.Gln1802Glu) c.5341C>G (p.Gln1781Glu) c.5332C>G (p.Gln1778Glu) c.4942C>G (p.Gln1648Glu) c.4801C>G (p.Gln1601Glu) c.5233C>G (p.Gln1745Glu) | gnomAD v4 |
8 | g.41668497G>T | CA371051890 | ANK1 | c.5287C>A (p.Gln1763Lys) c.5383C>A (p.Gln1795Lys) c.5200C>A (p.Gln1734Lys) c.5164C>A (p.Gln1722Lys) c.1178C>A c.736C>A c.2642C>A n.2558C>A c.4678C>A (p.Gln1560Lys) c.5428C>A (p.Gln1810Lys) c.5329C>A (p.Gln1777Lys) c.5263C>A (p.Gln1755Lys) c.5245C>A (p.Gln1749Lys) c.4897C>A (p.Gln1633Lys) c.4777C>A (p.Gln1593Lys) c.4988C>A (p.Ala1663Glu) n.5019C>A c.5404C>A (p.Gln1802Lys) c.5341C>A (p.Gln1781Lys) c.5332C>A (p.Gln1778Lys) c.4942C>A (p.Gln1648Lys) c.4801C>A (p.Gln1601Lys) c.5233C>A (p.Gln1745Lys) | |
8 | g.41668498C>A | CA371051894 | ANK1 | c.5286G>T (p.Trp1762Cys) c.5382G>T (p.Trp1794Cys) c.5199G>T (p.Trp1733Cys) c.5163G>T (p.Trp1721Cys) c.1177G>T c.735G>T c.2641G>T n.2557G>T c.4677G>T (p.Trp1559Cys) c.5427G>T (p.Trp1809Cys) c.5328G>T (p.Trp1776Cys) c.5262G>T (p.Trp1754Cys) c.5244G>T (p.Trp1748Cys) c.4896G>T (p.Trp1632Cys) c.4776G>T (p.Trp1592Cys) c.4987G>T (p.Ala1663Ser) n.5018G>T c.5403G>T (p.Trp1801Cys) c.5340G>T (p.Trp1780Cys) c.5331G>T (p.Trp1777Cys) c.4941G>T (p.Trp1647Cys) c.4800G>T (p.Trp1600Cys) c.5232G>T (p.Trp1744Cys) | |
8 | g.41668498C= | CA1779071313 | ANK1 | c.5286G= (p.Trp1762=) c.5382G= (p.Trp1794=) c.5199G= (p.Trp1733=) c.5163G= (p.Trp1721=) c.1177G= c.735G= c.2641G= n.2557G= c.4677G= (p.Trp1559=) c.5427G= (p.Trp1809=) c.5328G= (p.Trp1776=) c.5262G= (p.Trp1754=) c.5244G= (p.Trp1748=) c.4896G= (p.Trp1632=) c.4776G= (p.Trp1592=) c.4987G= (p.Ala1663=) n.5018G= c.5403G= (p.Trp1801=) c.5340G= (p.Trp1780=) c.5331G= (p.Trp1777=) c.4941G= (p.Trp1647=) c.4800G= (p.Trp1600=) c.5232G= (p.Trp1744=) | |
8 | g.41668498C>G | CA371051898 | ANK1 | c.5286G>C (p.Trp1762Cys) c.5382G>C (p.Trp1794Cys) c.5199G>C (p.Trp1733Cys) c.5163G>C (p.Trp1721Cys) c.1177G>C c.735G>C c.2641G>C n.2557G>C c.4677G>C (p.Trp1559Cys) c.5427G>C (p.Trp1809Cys) c.5328G>C (p.Trp1776Cys) c.5262G>C (p.Trp1754Cys) c.5244G>C (p.Trp1748Cys) c.4896G>C (p.Trp1632Cys) c.4776G>C (p.Trp1592Cys) c.4987G>C (p.Ala1663Pro) n.5018G>C c.5403G>C (p.Trp1801Cys) c.5340G>C (p.Trp1780Cys) c.5331G>C (p.Trp1777Cys) c.4941G>C (p.Trp1647Cys) c.4800G>C (p.Trp1600Cys) c.5232G>C (p.Trp1744Cys) | |
8 | g.41668498C>T | CA114339 | ANK1 | c.5286G>A (p.Trp1762Ter) c.5382G>A (p.Trp1794Ter) c.5199G>A (p.Trp1733Ter) c.5163G>A (p.Trp1721Ter) c.1177G>A c.735G>A c.2641G>A n.2557G>A c.4677G>A (p.Trp1559Ter) c.5427G>A (p.Trp1809Ter) c.5328G>A (p.Trp1776Ter) c.5262G>A (p.Trp1754Ter) c.5244G>A (p.Trp1748Ter) c.4896G>A (p.Trp1632Ter) c.4776G>A (p.Trp1592Ter) c.4987G>A (p.Ala1663Thr) n.5018G>A c.5403G>A (p.Trp1801Ter) c.5340G>A (p.Trp1780Ter) c.5331G>A (p.Trp1777Ter) c.4941G>A (p.Trp1647Ter) c.4800G>A (p.Trp1600Ter) c.5232G>A (p.Trp1744Ter) | ClinVar dbSNP |
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) |