| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.41668398C>A | CA371051404 | ANK1 | c.5386G>T (p.Val1796Leu) c.5482G>T (p.Val1828Leu) c.5299G>T (p.Val1767Leu) c.5263G>T (p.Val1755Leu) c.1277G>T c.835G>T c.2741G>T n.2657G>T c.4777G>T (p.Val1593Leu) c.5527G>T (p.Val1843Leu) c.5428G>T (p.Val1810Leu) c.5362G>T (p.Val1788Leu) c.5344G>T (p.Val1782Leu) c.4996G>T (p.Val1666Leu) c.4876G>T (p.Val1626Leu) c.*44G>T (n.*44G>T) n.5118G>T c.5503G>T (p.Val1835Leu) c.5440G>T (p.Val1814Leu) c.5431G>T (p.Val1811Leu) c.5041G>T (p.Val1681Leu) c.4900G>T (p.Val1634Leu) c.5332G>T (p.Val1778Leu) | |
| 8 | g.41668398C>G | CA371051405 | ANK1 | c.5386G>C (p.Val1796Leu) c.5482G>C (p.Val1828Leu) c.5299G>C (p.Val1767Leu) c.5263G>C (p.Val1755Leu) c.1277G>C c.835G>C c.2741G>C n.2657G>C c.4777G>C (p.Val1593Leu) c.5527G>C (p.Val1843Leu) c.5428G>C (p.Val1810Leu) c.5362G>C (p.Val1788Leu) c.5344G>C (p.Val1782Leu) c.4996G>C (p.Val1666Leu) c.4876G>C (p.Val1626Leu) c.*44G>C (n.*44G>C) n.5118G>C c.5503G>C (p.Val1835Leu) c.5440G>C (p.Val1814Leu) c.5431G>C (p.Val1811Leu) c.5041G>C (p.Val1681Leu) c.4900G>C (p.Val1634Leu) c.5332G>C (p.Val1778Leu) | |
| 8 | g.41668398C>T | CA371051406 | ANK1 | c.5386G>A (p.Val1796Met) c.5482G>A (p.Val1828Met) c.5299G>A (p.Val1767Met) c.5263G>A (p.Val1755Met) c.1277G>A c.835G>A c.2741G>A n.2657G>A c.4777G>A (p.Val1593Met) c.5527G>A (p.Val1843Met) c.5428G>A (p.Val1810Met) c.5362G>A (p.Val1788Met) c.5344G>A (p.Val1782Met) c.4996G>A (p.Val1666Met) c.4876G>A (p.Val1626Met) c.*44G>A (n.*44G>A) n.5118G>A c.5503G>A (p.Val1835Met) c.5440G>A (p.Val1814Met) c.5431G>A (p.Val1811Met) c.5041G>A (p.Val1681Met) c.4900G>A (p.Val1634Met) c.5332G>A (p.Val1778Met) | gnomAD v4 |
| 8 | g.41668399C>A | CA460782040 | ANK1 | c.5385G>T (p.Leu1795=) c.5481G>T (p.Leu1827=) c.5298G>T (p.Leu1766=) c.5262G>T (p.Leu1754=) c.1276G>T c.834G>T c.2740G>T n.2656G>T c.4776G>T (p.Leu1592=) c.5526G>T (p.Leu1842=) c.5427G>T (p.Leu1809=) c.5361G>T (p.Leu1787=) c.5343G>T (p.Leu1781=) c.4995G>T (p.Leu1665=) c.4875G>T (p.Leu1625=) c.*43G>T (n.*43G>T) n.5117G>T c.5502G>T (p.Leu1834=) c.5439G>T (p.Leu1813=) c.5430G>T (p.Leu1810=) c.5040G>T (p.Leu1680=) c.4899G>T (p.Leu1633=) c.5331G>T (p.Leu1777=) | |
| 8 | g.41668399C= | CA1779071145 | ANK1 | c.5385G= (p.Leu1795=) c.5481G= (p.Leu1827=) c.5298G= (p.Leu1766=) c.5262G= (p.Leu1754=) c.1276G= c.834G= c.2740G= n.2656G= c.4776G= (p.Leu1592=) c.5526G= (p.Leu1842=) c.5427G= (p.Leu1809=) c.5361G= (p.Leu1787=) c.5343G= (p.Leu1781=) c.4995G= (p.Leu1665=) c.4875G= (p.Leu1625=) c.*43G= (n.*43G=) n.5117G= c.5502G= (p.Leu1834=) c.5439G= (p.Leu1813=) c.5430G= (p.Leu1810=) c.5040G= (p.Leu1680=) c.4899G= (p.Leu1633=) c.5331G= (p.Leu1777=) | |
| 8 | g.41668399C>G | CA460782038 | ANK1 | c.5385G>C (p.Leu1795=) c.5481G>C (p.Leu1827=) c.5298G>C (p.Leu1766=) c.5262G>C (p.Leu1754=) c.1276G>C c.834G>C c.2740G>C n.2656G>C c.4776G>C (p.Leu1592=) c.5526G>C (p.Leu1842=) c.5427G>C (p.Leu1809=) c.5361G>C (p.Leu1787=) c.5343G>C (p.Leu1781=) c.4995G>C (p.Leu1665=) c.4875G>C (p.Leu1625=) c.*43G>C (n.*43G>C) n.5117G>C c.5502G>C (p.Leu1834=) c.5439G>C (p.Leu1813=) c.5430G>C (p.Leu1810=) c.5040G>C (p.Leu1680=) c.4899G>C (p.Leu1633=) c.5331G>C (p.Leu1777=) | |
| 8 | g.41668399C>T | CA460782039 | ANK1 | c.5385G>A (p.Leu1795=) c.5481G>A (p.Leu1827=) c.5298G>A (p.Leu1766=) c.5262G>A (p.Leu1754=) c.1276G>A c.834G>A c.2740G>A n.2656G>A c.4776G>A (p.Leu1592=) c.5526G>A (p.Leu1842=) c.5427G>A (p.Leu1809=) c.5361G>A (p.Leu1787=) c.5343G>A (p.Leu1781=) c.4995G>A (p.Leu1665=) c.4875G>A (p.Leu1625=) c.*43G>A (n.*43G>A) n.5117G>A c.5502G>A (p.Leu1834=) c.5439G>A (p.Leu1813=) c.5430G>A (p.Leu1810=) c.5040G>A (p.Leu1680=) c.4899G>A (p.Leu1633=) c.5331G>A (p.Leu1777=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.41668400A>C | CA371051407 | ANK1 | c.5384T>G (p.Leu1795Arg) c.5480T>G (p.Leu1827Arg) c.5297T>G (p.Leu1766Arg) c.5261T>G (p.Leu1754Arg) c.1275T>G c.833T>G c.2739T>G n.2655T>G c.4775T>G (p.Leu1592Arg) c.5525T>G (p.Leu1842Arg) c.5426T>G (p.Leu1809Arg) c.5360T>G (p.Leu1787Arg) c.5342T>G (p.Leu1781Arg) c.4994T>G (p.Leu1665Arg) c.4874T>G (p.Leu1625Arg) c.*42T>G (n.*42T>G) n.5116T>G c.5501T>G (p.Leu1834Arg) c.5438T>G (p.Leu1813Arg) c.5429T>G (p.Leu1810Arg) c.5039T>G (p.Leu1680Arg) c.4898T>G (p.Leu1633Arg) c.5330T>G (p.Leu1777Arg) | |
| 8 | g.41668400A>G | CA371051408 | ANK1 | c.5384T>C (p.Leu1795Pro) c.5480T>C (p.Leu1827Pro) c.5297T>C (p.Leu1766Pro) c.5261T>C (p.Leu1754Pro) c.1275T>C c.833T>C c.2739T>C n.2655T>C c.4775T>C (p.Leu1592Pro) c.5525T>C (p.Leu1842Pro) c.5426T>C (p.Leu1809Pro) c.5360T>C (p.Leu1787Pro) c.5342T>C (p.Leu1781Pro) c.4994T>C (p.Leu1665Pro) c.4874T>C (p.Leu1625Pro) c.*42T>C (n.*42T>C) n.5116T>C c.5501T>C (p.Leu1834Pro) c.5438T>C (p.Leu1813Pro) c.5429T>C (p.Leu1810Pro) c.5039T>C (p.Leu1680Pro) c.4898T>C (p.Leu1633Pro) c.5330T>C (p.Leu1777Pro) | gnomAD v4 |
| 8 | g.41668400A>T | CA371051409 | ANK1 | c.5384T>A (p.Leu1795Gln) c.5480T>A (p.Leu1827Gln) c.5297T>A (p.Leu1766Gln) c.5261T>A (p.Leu1754Gln) c.1275T>A c.833T>A c.2739T>A n.2655T>A c.4775T>A (p.Leu1592Gln) c.5525T>A (p.Leu1842Gln) c.5426T>A (p.Leu1809Gln) c.5360T>A (p.Leu1787Gln) c.5342T>A (p.Leu1781Gln) c.4994T>A (p.Leu1665Gln) c.4874T>A (p.Leu1625Gln) c.*42T>A (n.*42T>A) n.5116T>A c.5501T>A (p.Leu1834Gln) c.5438T>A (p.Leu1813Gln) c.5429T>A (p.Leu1810Gln) c.5039T>A (p.Leu1680Gln) c.4898T>A (p.Leu1633Gln) c.5330T>A (p.Leu1777Gln) | |
| 8 | g.41668400_41668401delinsAG | CA1779071149 | ANK1 | c.5383_5384delinsCT (p.Leu1795=) c.5479_5480delinsCT (p.Leu1827=) c.5296_5297delinsCT (p.Leu1766=) c.5260_5261delinsCT (p.Leu1754=) c.1274_1275delinsCT c.832_833delinsCT c.2738_2739delinsCT n.2654_2655delinsCT c.4774_4775delinsCT (p.Leu1592=) c.5524_5525delinsCT (p.Leu1842=) c.5425_5426delinsCT (p.Leu1809=) c.5359_5360delinsCT (p.Leu1787=) c.5341_5342delinsCT (p.Leu1781=) c.4993_4994delinsCT (p.Leu1665=) c.4873_4874delinsCT (p.Leu1625=) c.*41_*42delinsCT (n.*41_*42delinsCT) n.5115_5116delinsCT c.5500_5501delinsCT (p.Leu1834=) c.5437_5438delinsCT (p.Leu1813=) c.5428_5429delinsCT (p.Leu1810=) c.5038_5039delinsCT (p.Leu1680=) c.4897_4898delinsCT (p.Leu1633=) c.5329_5330delinsCT (p.Leu1777=) | |
| 8 | g.41668401G>A | CA460782041 | ANK1 | c.5383C>T (p.Leu1795=) c.5479C>T (p.Leu1827=) c.5296C>T (p.Leu1766=) c.5260C>T (p.Leu1754=) c.1274C>T c.832C>T c.2738C>T n.2654C>T c.4774C>T (p.Leu1592=) c.5524C>T (p.Leu1842=) c.5425C>T (p.Leu1809=) c.5359C>T (p.Leu1787=) c.5341C>T (p.Leu1781=) c.4993C>T (p.Leu1665=) c.4873C>T (p.Leu1625=) c.*41C>T (n.*41C>T) n.5115C>T c.5500C>T (p.Leu1834=) c.5437C>T (p.Leu1813=) c.5428C>T (p.Leu1810=) c.5038C>T (p.Leu1680=) c.4897C>T (p.Leu1633=) c.5329C>T (p.Leu1777=) | dbSNP |
| 8 | g.41668401G>C | CA371051410 | ANK1 | c.5383C>G (p.Leu1795Val) c.5479C>G (p.Leu1827Val) c.5296C>G (p.Leu1766Val) c.5260C>G (p.Leu1754Val) c.1274C>G c.832C>G c.2738C>G n.2654C>G c.4774C>G (p.Leu1592Val) c.5524C>G (p.Leu1842Val) c.5425C>G (p.Leu1809Val) c.5359C>G (p.Leu1787Val) c.5341C>G (p.Leu1781Val) c.4993C>G (p.Leu1665Val) c.4873C>G (p.Leu1625Val) c.*41C>G (n.*41C>G) n.5115C>G c.5500C>G (p.Leu1834Val) c.5437C>G (p.Leu1813Val) c.5428C>G (p.Leu1810Val) c.5038C>G (p.Leu1680Val) c.4897C>G (p.Leu1633Val) c.5329C>G (p.Leu1777Val) | |
| 8 | g.41668401G= | CA1779071152 | ANK1 | c.5383C= (p.Leu1795=) c.5479C= (p.Leu1827=) c.5296C= (p.Leu1766=) c.5260C= (p.Leu1754=) c.1274C= c.832C= c.2738C= n.2654C= c.4774C= (p.Leu1592=) c.5524C= (p.Leu1842=) c.5425C= (p.Leu1809=) c.5359C= (p.Leu1787=) c.5341C= (p.Leu1781=) c.4993C= (p.Leu1665=) c.4873C= (p.Leu1625=) c.*41C= (n.*41C=) n.5115C= c.5500C= (p.Leu1834=) c.5437C= (p.Leu1813=) c.5428C= (p.Leu1810=) c.5038C= (p.Leu1680=) c.4897C= (p.Leu1633=) c.5329C= (p.Leu1777=) | |
| 8 | g.41668401G>T | CA371051411 | ANK1 | c.5383C>A (p.Leu1795Met) c.5479C>A (p.Leu1827Met) c.5296C>A (p.Leu1766Met) c.5260C>A (p.Leu1754Met) c.1274C>A c.832C>A c.2738C>A n.2654C>A c.4774C>A (p.Leu1592Met) c.5524C>A (p.Leu1842Met) c.5425C>A (p.Leu1809Met) c.5359C>A (p.Leu1787Met) c.5341C>A (p.Leu1781Met) c.4993C>A (p.Leu1665Met) c.4873C>A (p.Leu1625Met) c.*41C>A (n.*41C>A) n.5115C>A c.5500C>A (p.Leu1834Met) c.5437C>A (p.Leu1813Met) c.5428C>A (p.Leu1810Met) c.5038C>A (p.Leu1680Met) c.4897C>A (p.Leu1633Met) c.5329C>A (p.Leu1777Met) | |
| 8 | g.41668402del | CA1779071154 | ANK1 | c.5383del (p.Leu1795TrpfsTer4) c.5479del (p.Leu1827TrpfsTer4) c.5296del (p.Leu1766TrpfsTer4) c.5260del (p.Leu1754TrpfsTer4) c.1274del c.832del c.2738del n.2654del c.4774del (p.Leu1592TrpfsTer4) c.5524del (p.Leu1842TrpfsTer4) c.5425del (p.Leu1809TrpfsTer4) c.5359del (p.Leu1787TrpfsTer4) c.5341del (p.Leu1781TrpfsTer4) c.4993del (p.Leu1665TrpfsTer4) c.4873del (p.Leu1625TrpfsTer4) c.*41del (n.*41del) n.5115del c.5500del (p.Leu1834TrpfsTer4) c.5437del (p.Leu1813TrpfsTer4) c.5428del (p.Leu1810TrpfsTer4) c.5038del (p.Leu1680TrpfsTer4) c.4897del (p.Leu1633TrpfsTer4) c.5329del (p.Leu1777TrpfsTer4) | ClinVar dbSNP |
| 8 | g.41668402G>A | CA175914304 | ANK1 | c.5382C>T (p.Val1794=) c.5478C>T (p.Val1826=) c.5295C>T (p.Val1765=) c.5259C>T (p.Val1753=) c.1273C>T c.831C>T c.2737C>T n.2653C>T c.4773C>T (p.Val1591=) c.5523C>T (p.Val1841=) c.5424C>T (p.Val1808=) c.5358C>T (p.Val1786=) c.5340C>T (p.Val1780=) c.4992C>T (p.Val1664=) c.4872C>T (p.Val1624=) c.*40C>T (n.*40C>T) n.5114C>T c.5499C>T (p.Val1833=) c.5436C>T (p.Val1812=) c.5427C>T (p.Val1809=) c.5037C>T (p.Val1679=) c.4896C>T (p.Val1632=) c.5328C>T (p.Val1776=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.41668402G>C | CA460782042 | ANK1 | c.5382C>G (p.Val1794=) c.5478C>G (p.Val1826=) c.5295C>G (p.Val1765=) c.5259C>G (p.Val1753=) c.1273C>G c.831C>G c.2737C>G n.2653C>G c.4773C>G (p.Val1591=) c.5523C>G (p.Val1841=) c.5424C>G (p.Val1808=) c.5358C>G (p.Val1786=) c.5340C>G (p.Val1780=) c.4992C>G (p.Val1664=) c.4872C>G (p.Val1624=) c.*40C>G (n.*40C>G) n.5114C>G c.5499C>G (p.Val1833=) c.5436C>G (p.Val1812=) c.5427C>G (p.Val1809=) c.5037C>G (p.Val1679=) c.4896C>G (p.Val1632=) c.5328C>G (p.Val1776=) | |
| 8 | g.41668402G= | CA1779071158 | ANK1 | c.5382C= (p.Val1794=) c.5478C= (p.Val1826=) c.5295C= (p.Val1765=) c.5259C= (p.Val1753=) c.1273C= c.831C= c.2737C= n.2653C= c.4773C= (p.Val1591=) c.5523C= (p.Val1841=) c.5424C= (p.Val1808=) c.5358C= (p.Val1786=) c.5340C= (p.Val1780=) c.4992C= (p.Val1664=) c.4872C= (p.Val1624=) c.*40C= (n.*40C=) n.5114C= c.5499C= (p.Val1833=) c.5436C= (p.Val1812=) c.5427C= (p.Val1809=) c.5037C= (p.Val1679=) c.4896C= (p.Val1632=) c.5328C= (p.Val1776=) | |
| 8 | g.41668402G>T | CA460782043 | ANK1 | c.5382C>A (p.Val1794=) c.5478C>A (p.Val1826=) c.5295C>A (p.Val1765=) c.5259C>A (p.Val1753=) c.1273C>A c.831C>A c.2737C>A n.2653C>A c.4773C>A (p.Val1591=) c.5523C>A (p.Val1841=) c.5424C>A (p.Val1808=) c.5358C>A (p.Val1786=) c.5340C>A (p.Val1780=) c.4992C>A (p.Val1664=) c.4872C>A (p.Val1624=) c.*40C>A (n.*40C>A) n.5114C>A c.5499C>A (p.Val1833=) c.5436C>A (p.Val1812=) c.5427C>A (p.Val1809=) c.5037C>A (p.Val1679=) c.4896C>A (p.Val1632=) c.5328C>A (p.Val1776=) | gnomAD v4 |
| 8 | g.41668403A>C | CA371051412 | ANK1 | c.5381T>G (p.Val1794Gly) c.5477T>G (p.Val1826Gly) c.5294T>G (p.Val1765Gly) c.5258T>G (p.Val1753Gly) c.1272T>G c.830T>G c.2736T>G n.2652T>G c.4772T>G (p.Val1591Gly) c.5522T>G (p.Val1841Gly) c.5423T>G (p.Val1808Gly) c.5357T>G (p.Val1786Gly) c.5339T>G (p.Val1780Gly) c.4991T>G (p.Val1664Gly) c.4871T>G (p.Val1624Gly) c.*39T>G (n.*39T>G) n.5113T>G c.5498T>G (p.Val1833Gly) c.5435T>G (p.Val1812Gly) c.5426T>G (p.Val1809Gly) c.5036T>G (p.Val1679Gly) c.4895T>G (p.Val1632Gly) c.5327T>G (p.Val1776Gly) | |
| 8 | g.41668403A>G | CA371051413 | ANK1 | c.5381T>C (p.Val1794Ala) c.5477T>C (p.Val1826Ala) c.5294T>C (p.Val1765Ala) c.5258T>C (p.Val1753Ala) c.1272T>C c.830T>C c.2736T>C n.2652T>C c.4772T>C (p.Val1591Ala) c.5522T>C (p.Val1841Ala) c.5423T>C (p.Val1808Ala) c.5357T>C (p.Val1786Ala) c.5339T>C (p.Val1780Ala) c.4991T>C (p.Val1664Ala) c.4871T>C (p.Val1624Ala) c.*39T>C (n.*39T>C) n.5113T>C c.5498T>C (p.Val1833Ala) c.5435T>C (p.Val1812Ala) c.5426T>C (p.Val1809Ala) c.5036T>C (p.Val1679Ala) c.4895T>C (p.Val1632Ala) c.5327T>C (p.Val1776Ala) | |
| 8 | g.41668403A>T | CA371051414 | ANK1 | c.5381T>A (p.Val1794Asp) c.5477T>A (p.Val1826Asp) c.5294T>A (p.Val1765Asp) c.5258T>A (p.Val1753Asp) c.1272T>A c.830T>A c.2736T>A n.2652T>A c.4772T>A (p.Val1591Asp) c.5522T>A (p.Val1841Asp) c.5423T>A (p.Val1808Asp) c.5357T>A (p.Val1786Asp) c.5339T>A (p.Val1780Asp) c.4991T>A (p.Val1664Asp) c.4871T>A (p.Val1624Asp) c.*39T>A (n.*39T>A) n.5113T>A c.5498T>A (p.Val1833Asp) c.5435T>A (p.Val1812Asp) c.5426T>A (p.Val1809Asp) c.5036T>A (p.Val1679Asp) c.4895T>A (p.Val1632Asp) c.5327T>A (p.Val1776Asp) | |
| 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 |