Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.22262950A>CCA379922879ANO5c.1355A>C (p.Asp452Ala)
c.1763A>C (p.Asp588Ala)
n.2799A>C
c.1760A>C (p.Asp587Ala)
c.1805A>C (p.Asp602Ala)
n.2140A>C
c.1802A>C (p.Asp601Ala)
c.1727A>C (p.Asp576Ala)
c.1724A>C (p.Asp575Ala)
c.1712A>C (p.Asp571Ala)
11g.22262950A>GCA379922880ANO5c.1355A>G (p.Asp452Gly)
c.1763A>G (p.Asp588Gly)
n.2799A>G
c.1760A>G (p.Asp587Gly)
c.1805A>G (p.Asp602Gly)
n.2140A>G
c.1802A>G (p.Asp601Gly)
c.1727A>G (p.Asp576Gly)
c.1724A>G (p.Asp575Gly)
c.1712A>G (p.Asp571Gly)
11g.22262950A>TCA379922881ANO5c.1355A>T (p.Asp452Val)
c.1763A>T (p.Asp588Val)
n.2799A>T
c.1760A>T (p.Asp587Val)
c.1805A>T (p.Asp602Val)
n.2140A>T
c.1802A>T (p.Asp601Val)
c.1727A>T (p.Asp576Val)
c.1724A>T (p.Asp575Val)
c.1712A>T (p.Asp571Val)
11g.22262951T>ACA379922882ANO5c.1356T>A (p.Asp452Glu)
c.1764T>A (p.Asp588Glu)
n.2800T>A
c.1761T>A (p.Asp587Glu)
c.1806T>A (p.Asp602Glu)
n.2141T>A
c.1803T>A (p.Asp601Glu)
c.1728T>A (p.Asp576Glu)
c.1725T>A (p.Asp575Glu)
c.1713T>A (p.Asp571Glu)
11g.22262951T>CCA473407306ANO5c.1356T>C (p.Asp452=)
c.1764T>C (p.Asp588=)
n.2800T>C
c.1761T>C (p.Asp587=)
c.1806T>C (p.Asp602=)
n.2141T>C
c.1803T>C (p.Asp601=)
c.1728T>C (p.Asp576=)
c.1725T>C (p.Asp575=)
c.1713T>C (p.Asp571=)
11g.22262951T>GCA379922883ANO5c.1356T>G (p.Asp452Glu)
c.1764T>G (p.Asp588Glu)
n.2800T>G
c.1761T>G (p.Asp587Glu)
c.1806T>G (p.Asp602Glu)
n.2141T>G
c.1803T>G (p.Asp601Glu)
c.1728T>G (p.Asp576Glu)
c.1725T>G (p.Asp575Glu)
c.1713T>G (p.Asp571Glu)
11g.22262952C>ACA379922886ANO5c.1357C>A (p.Pro453Thr)
c.1765C>A (p.Pro589Thr)
n.2801C>A
c.1762C>A (p.Pro588Thr)
c.1807C>A (p.Pro603Thr)
n.2142C>A
c.1804C>A (p.Pro602Thr)
c.1729C>A (p.Pro577Thr)
c.1726C>A (p.Pro576Thr)
c.1714C>A (p.Pro572Thr)
11g.22262952C>GCA379922885ANO5c.1357C>G (p.Pro453Ala)
c.1765C>G (p.Pro589Ala)
n.2801C>G
c.1762C>G (p.Pro588Ala)
c.1807C>G (p.Pro603Ala)
n.2142C>G
c.1804C>G (p.Pro602Ala)
c.1729C>G (p.Pro577Ala)
c.1726C>G (p.Pro576Ala)
c.1714C>G (p.Pro572Ala)
11g.22262952C>TCA379922884ANO5c.1357C>T (p.Pro453Ser)
c.1765C>T (p.Pro589Ser)
n.2801C>T
c.1762C>T (p.Pro588Ser)
c.1807C>T (p.Pro603Ser)
n.2142C>T
c.1804C>T (p.Pro602Ser)
c.1729C>T (p.Pro577Ser)
c.1726C>T (p.Pro576Ser)
c.1714C>T (p.Pro572Ser)
11g.22262953C>ACA379922887ANO5c.1358C>A (p.Pro453His)
c.1766C>A (p.Pro589His)
n.2802C>A
c.1763C>A (p.Pro588His)
c.1808C>A (p.Pro603His)
n.2143C>A
c.1805C>A (p.Pro602His)
c.1730C>A (p.Pro577His)
c.1727C>A (p.Pro576His)
c.1715C>A (p.Pro572His)
11g.22262953C>GCA379922888ANO5c.1358C>G (p.Pro453Arg)
c.1766C>G (p.Pro589Arg)
n.2802C>G
c.1763C>G (p.Pro588Arg)
c.1808C>G (p.Pro603Arg)
n.2143C>G
c.1805C>G (p.Pro602Arg)
c.1730C>G (p.Pro577Arg)
c.1727C>G (p.Pro576Arg)
c.1715C>G (p.Pro572Arg)
11g.22262953C>TCA379922889ANO5c.1358C>T (p.Pro453Leu)
c.1766C>T (p.Pro589Leu)
n.2802C>T
c.1763C>T (p.Pro588Leu)
c.1808C>T (p.Pro603Leu)
n.2143C>T
c.1805C>T (p.Pro602Leu)
c.1730C>T (p.Pro577Leu)
c.1727C>T (p.Pro576Leu)
c.1715C>T (p.Pro572Leu)
11g.22262954T>ACA473407309ANO5c.1359T>A (p.Pro453=)
c.1767T>A (p.Pro589=)
n.2803T>A
c.1764T>A (p.Pro588=)
c.1809T>A (p.Pro603=)
n.2144T>A
c.1806T>A (p.Pro602=)
c.1731T>A (p.Pro577=)
c.1728T>A (p.Pro576=)
c.1716T>A (p.Pro572=)
11g.22262954T>CCA473407308ANO5c.1359T>C (p.Pro453=)
c.1767T>C (p.Pro589=)
n.2803T>C
c.1764T>C (p.Pro588=)
c.1809T>C (p.Pro603=)
n.2144T>C
c.1806T>C (p.Pro602=)
c.1731T>C (p.Pro577=)
c.1728T>C (p.Pro576=)
c.1716T>C (p.Pro572=)
11g.22262954T>GCA473407307ANO5c.1359T>G (p.Pro453=)
c.1767T>G (p.Pro589=)
n.2803T>G
c.1764T>G (p.Pro588=)
c.1809T>G (p.Pro603=)
n.2144T>G
c.1806T>G (p.Pro602=)
c.1731T>G (p.Pro577=)
c.1728T>G (p.Pro576=)
c.1716T>G (p.Pro572=)
11g.22262955G>ACA379922890ANO5c.1360G>A (p.Gly454Arg)
c.1768G>A (p.Gly590Arg)
n.2804G>A
c.1765G>A (p.Gly589Arg)
c.1810G>A (p.Gly604Arg)
n.2145G>A
c.1807G>A (p.Gly603Arg)
c.1732G>A (p.Gly578Arg)
c.1729G>A (p.Gly577Arg)
c.1717G>A (p.Gly573Arg)
11g.22262955G>CCA379922891ANO5c.1360G>C (p.Gly454Arg)
c.1768G>C (p.Gly590Arg)
n.2804G>C
c.1765G>C (p.Gly589Arg)
c.1810G>C (p.Gly604Arg)
n.2145G>C
c.1807G>C (p.Gly603Arg)
c.1732G>C (p.Gly578Arg)
c.1729G>C (p.Gly577Arg)
c.1717G>C (p.Gly573Arg)
11g.22262955G>TCA379922892ANO5c.1360G>T (p.Gly454Ter)
c.1768G>T (p.Gly590Ter)
n.2804G>T
c.1765G>T (p.Gly589Ter)
c.1810G>T (p.Gly604Ter)
n.2145G>T
c.1807G>T (p.Gly603Ter)
c.1732G>T (p.Gly578Ter)
c.1729G>T (p.Gly577Ter)
c.1717G>T (p.Gly573Ter)
11g.22262956G>ACA379922893ANO5c.1361G>A (p.Gly454Glu)
c.1769G>A (p.Gly590Glu)
n.2805G>A
c.1766G>A (p.Gly589Glu)
c.1811G>A (p.Gly604Glu)
n.2146G>A
c.1808G>A (p.Gly603Glu)
c.1733G>A (p.Gly578Glu)
c.1730G>A (p.Gly577Glu)
c.1718G>A (p.Gly573Glu)
11g.22262956G>CCA379922895ANO5c.1361G>C (p.Gly454Ala)
c.1769G>C (p.Gly590Ala)
n.2805G>C
c.1766G>C (p.Gly589Ala)
c.1811G>C (p.Gly604Ala)
n.2146G>C
c.1808G>C (p.Gly603Ala)
c.1733G>C (p.Gly578Ala)
c.1730G>C (p.Gly577Ala)
c.1718G>C (p.Gly573Ala)
11g.22262956G>TCA379922894ANO5c.1361G>T (p.Gly454Val)
c.1769G>T (p.Gly590Val)
n.2805G>T
c.1766G>T (p.Gly589Val)
c.1811G>T (p.Gly604Val)
n.2146G>T
c.1808G>T (p.Gly603Val)
c.1733G>T (p.Gly578Val)
c.1730G>T (p.Gly577Val)
c.1718G>T (p.Gly573Val)
11g.22262957delCA2574781612ANO5c.1362del (p.Gly455AlafsTer4)
c.1770del (p.Gly591AlafsTer4)
n.2806del
c.1767del (p.Gly590AlafsTer4)
c.1812del (p.Gly605AlafsTer4)
n.2147del
c.1809del (p.Gly604AlafsTer4)
c.1734del (p.Gly579AlafsTer4)
c.1731del (p.Gly578AlafsTer4)
c.1719del (p.Gly574AlafsTer4)
11g.22262957A>CCA473407310ANO5c.1362A>C (p.Gly454=)
c.1770A>C (p.Gly590=)
n.2806A>C
c.1767A>C (p.Gly589=)
c.1812A>C (p.Gly604=)
n.2147A>C
c.1809A>C (p.Gly603=)
c.1734A>C (p.Gly578=)
c.1731A>C (p.Gly577=)
c.1719A>C (p.Gly573=)
11g.22262957A>GCA473407312ANO5c.1362A>G (p.Gly454=)
c.1770A>G (p.Gly590=)
n.2806A>G
c.1767A>G (p.Gly589=)
c.1812A>G (p.Gly604=)
n.2147A>G
c.1809A>G (p.Gly603=)
c.1734A>G (p.Gly578=)
c.1731A>G (p.Gly577=)
c.1719A>G (p.Gly573=)
11g.22262957A>TCA473407311ANO5c.1362A>T (p.Gly454=)
c.1770A>T (p.Gly590=)
n.2806A>T
c.1767A>T (p.Gly589=)
c.1812A>T (p.Gly604=)
n.2147A>T
c.1809A>T (p.Gly603=)
c.1734A>T (p.Gly578=)
c.1731A>T (p.Gly577=)
c.1719A>T (p.Gly573=)
11g.22262958G>ACA379922896ANO5c.1363G>A (p.Gly455Ser)
c.1771G>A (p.Gly591Ser)
n.2807G>A
c.1768G>A (p.Gly590Ser)
c.1813G>A (p.Gly605Ser)
n.2148G>A
c.1810G>A (p.Gly604Ser)
c.1735G>A (p.Gly579Ser)
c.1732G>A (p.Gly578Ser)
c.1720G>A (p.Gly574Ser)
 gnomAD v4
11g.22262958G>CCA379922897ANO5c.1363G>C (p.Gly455Arg)
c.1771G>C (p.Gly591Arg)
n.2807G>C
c.1768G>C (p.Gly590Arg)
c.1813G>C (p.Gly605Arg)
n.2148G>C
c.1810G>C (p.Gly604Arg)
c.1735G>C (p.Gly579Arg)
c.1732G>C (p.Gly578Arg)
c.1720G>C (p.Gly574Arg)
11g.22262958G>TCA379922898ANO5c.1363G>T (p.Gly455Cys)
c.1771G>T (p.Gly591Cys)
n.2807G>T
c.1768G>T (p.Gly590Cys)
c.1813G>T (p.Gly605Cys)
n.2148G>T
c.1810G>T (p.Gly604Cys)
c.1735G>T (p.Gly579Cys)
c.1732G>T (p.Gly578Cys)
c.1720G>T (p.Gly574Cys)
11g.22262959G>ACA379922899ANO5c.1364G>A (p.Gly455Asp)
c.1772G>A (p.Gly591Asp)
n.2808G>A
c.1769G>A (p.Gly590Asp)
c.1814G>A (p.Gly605Asp)
n.2149G>A
c.1811G>A (p.Gly604Asp)
c.1736G>A (p.Gly579Asp)
c.1733G>A (p.Gly578Asp)
c.1721G>A (p.Gly574Asp)
 dbSNP gnomAD v2 gnomAD v4
11g.22262959G>CCA379922900ANO5c.1364G>C (p.Gly455Ala)
c.1772G>C (p.Gly591Ala)
n.2808G>C
c.1769G>C (p.Gly590Ala)
c.1814G>C (p.Gly605Ala)
n.2149G>C
c.1811G>C (p.Gly604Ala)
c.1736G>C (p.Gly579Ala)
c.1733G>C (p.Gly578Ala)
c.1721G>C (p.Gly574Ala)
11g.22262959G=CA1957420187ANO5c.1364G= (p.Gly455=)
c.1772G= (p.Gly591=)
n.2808G=
c.1769G= (p.Gly590=)
c.1814G= (p.Gly605=)
n.2149G=
c.1811G= (p.Gly604=)
c.1736G= (p.Gly579=)
c.1733G= (p.Gly578=)
c.1721G= (p.Gly574=)
11g.22262959G>TCA218768657ANO5c.1364G>T (p.Gly455Val)
c.1772G>T (p.Gly591Val)
n.2808G>T
c.1769G>T (p.Gly590Val)
c.1814G>T (p.Gly605Val)
n.2149G>T
c.1811G>T (p.Gly604Val)
c.1736G>T (p.Gly579Val)
c.1733G>T (p.Gly578Val)
c.1721G>T (p.Gly574Val)
 dbSNP
11g.22262960C>ACA473407313ANO5c.1365C>A (p.Gly455=)
c.1773C>A (p.Gly591=)
n.2809C>A
c.1770C>A (p.Gly590=)
c.1815C>A (p.Gly605=)
n.2150C>A
c.1812C>A (p.Gly604=)
c.1737C>A (p.Gly579=)
c.1734C>A (p.Gly578=)
c.1722C>A (p.Gly574=)
11g.22262960C>GCA473407314ANO5c.1365C>G (p.Gly455=)
c.1773C>G (p.Gly591=)
n.2809C>G
c.1770C>G (p.Gly590=)
c.1815C>G (p.Gly605=)
n.2150C>G
c.1812C>G (p.Gly604=)
c.1737C>G (p.Gly579=)
c.1734C>G (p.Gly578=)
c.1722C>G (p.Gly574=)
11g.22262960C>TCA473407315ANO5c.1365C>T (p.Gly455=)
c.1773C>T (p.Gly591=)
n.2809C>T
c.1770C>T (p.Gly590=)
c.1815C>T (p.Gly605=)
n.2150C>T
c.1812C>T (p.Gly604=)
c.1737C>T (p.Gly579=)
c.1734C>T (p.Gly578=)
c.1722C>T (p.Gly574=)
 gnomAD v4
11g.22262961T>ACA379922901ANO5c.1366T>A (p.Cys456Ser)
c.1774T>A (p.Cys592Ser)
n.2810T>A
c.1771T>A (p.Cys591Ser)
c.1816T>A (p.Cys606Ser)
n.2151T>A
c.1813T>A (p.Cys605Ser)
c.1738T>A (p.Cys580Ser)
c.1735T>A (p.Cys579Ser)
c.1723T>A (p.Cys575Ser)
11g.22262961T>CCA379922902ANO5c.1366T>C (p.Cys456Arg)
c.1774T>C (p.Cys592Arg)
n.2810T>C
c.1771T>C (p.Cys591Arg)
c.1816T>C (p.Cys606Arg)
n.2151T>C
c.1813T>C (p.Cys605Arg)
c.1738T>C (p.Cys580Arg)
c.1735T>C (p.Cys579Arg)
c.1723T>C (p.Cys575Arg)
 dbSNP gnomAD v4
11g.22262961T>GCA379922903ANO5c.1366T>G (p.Cys456Gly)
c.1774T>G (p.Cys592Gly)
n.2810T>G
c.1771T>G (p.Cys591Gly)
c.1816T>G (p.Cys606Gly)
n.2151T>G
c.1813T>G (p.Cys605Gly)
c.1738T>G (p.Cys580Gly)
c.1735T>G (p.Cys579Gly)
c.1723T>G (p.Cys575Gly)
11g.22262961T=CA1957420188ANO5c.1366T= (p.Cys456=)
c.1774T= (p.Cys592=)
n.2810T=
c.1771T= (p.Cys591=)
c.1816T= (p.Cys606=)
n.2151T=
c.1813T= (p.Cys605=)
c.1738T= (p.Cys580=)
c.1735T= (p.Cys579=)
c.1723T= (p.Cys575=)
11g.22262962G>ACA379922904ANO5c.1367G>A (p.Cys456Tyr)
c.1775G>A (p.Cys592Tyr)
n.2811G>A
c.1772G>A (p.Cys591Tyr)
c.1817G>A (p.Cys606Tyr)
n.2152G>A
c.1814G>A (p.Cys605Tyr)
c.1739G>A (p.Cys580Tyr)
c.1736G>A (p.Cys579Tyr)
c.1724G>A (p.Cys575Tyr)
 ClinVar dbSNP gnomAD v4
11g.22262962G>CCA379922905ANO5c.1367G>C (p.Cys456Ser)
c.1775G>C (p.Cys592Ser)
n.2811G>C
c.1772G>C (p.Cys591Ser)
c.1817G>C (p.Cys606Ser)
n.2152G>C
c.1814G>C (p.Cys605Ser)
c.1739G>C (p.Cys580Ser)
c.1736G>C (p.Cys579Ser)
c.1724G>C (p.Cys575Ser)
11g.22262962G>TCA379922906ANO5c.1367G>T (p.Cys456Phe)
c.1775G>T (p.Cys592Phe)
n.2811G>T
c.1772G>T (p.Cys591Phe)
c.1817G>T (p.Cys606Phe)
n.2152G>T
c.1814G>T (p.Cys605Phe)
c.1739G>T (p.Cys580Phe)
c.1736G>T (p.Cys579Phe)
c.1724G>T (p.Cys575Phe)
11g.22262963T>ACA379922908ANO5c.1368T>A (p.Cys456Ter)
c.1776T>A (p.Cys592Ter)
n.2812T>A
c.1773T>A (p.Cys591Ter)
c.1818T>A (p.Cys606Ter)
n.2153T>A
c.1815T>A (p.Cys605Ter)
c.1740T>A (p.Cys580Ter)
c.1737T>A (p.Cys579Ter)
c.1725T>A (p.Cys575Ter)
11g.22262963T>CCA5923369ANO5c.1368T>C (p.Cys456=)
c.1776T>C (p.Cys592=)
n.2812T>C
c.1773T>C (p.Cys591=)
c.1818T>C (p.Cys606=)
n.2153T>C
c.1815T>C (p.Cys605=)
c.1740T>C (p.Cys580=)
c.1737T>C (p.Cys579=)
c.1725T>C (p.Cys575=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.22262963T>GCA379922907ANO5c.1368T>G (p.Cys456Trp)
c.1776T>G (p.Cys592Trp)
n.2812T>G
c.1773T>G (p.Cys591Trp)
c.1818T>G (p.Cys606Trp)
n.2153T>G
c.1815T>G (p.Cys605Trp)
c.1740T>G (p.Cys580Trp)
c.1737T>G (p.Cys579Trp)
c.1725T>G (p.Cys575Trp)
11g.22262963T=CA1957420189ANO5c.1368T= (p.Cys456=)
c.1776T= (p.Cys592=)
n.2812T=
c.1773T= (p.Cys591=)
c.1818T= (p.Cys606=)
n.2153T=
c.1815T= (p.Cys605=)
c.1740T= (p.Cys580=)
c.1737T= (p.Cys579=)
c.1725T= (p.Cys575=)
11g.22262964C>ACA379922909ANO5c.1369C>A (p.Leu457Ile)
c.1777C>A (p.Leu593Ile)
n.2813C>A
c.1774C>A (p.Leu592Ile)
c.1819C>A (p.Leu607Ile)
n.2154C>A
c.1816C>A (p.Leu606Ile)
c.1741C>A (p.Leu581Ile)
c.1738C>A (p.Leu580Ile)
c.1726C>A (p.Leu576Ile)
11g.22262964C>GCA379922911ANO5c.1369C>G (p.Leu457Val)
c.1777C>G (p.Leu593Val)
n.2813C>G
c.1774C>G (p.Leu592Val)
c.1819C>G (p.Leu607Val)
n.2154C>G
c.1816C>G (p.Leu606Val)
c.1741C>G (p.Leu581Val)
c.1738C>G (p.Leu580Val)
c.1726C>G (p.Leu576Val)
11g.22262964C>TCA379922910ANO5c.1369C>T (p.Leu457Phe)
c.1777C>T (p.Leu593Phe)
n.2813C>T
c.1774C>T (p.Leu592Phe)
c.1819C>T (p.Leu607Phe)
n.2154C>T
c.1816C>T (p.Leu606Phe)
c.1741C>T (p.Leu581Phe)
c.1738C>T (p.Leu580Phe)
c.1726C>T (p.Leu576Phe)
11g.22262965T>ACA379922912ANO5c.1370T>A (p.Leu457His)
c.1778T>A (p.Leu593His)
n.2814T>A
c.1775T>A (p.Leu592His)
c.1820T>A (p.Leu607His)
n.2155T>A
c.1817T>A (p.Leu606His)
c.1742T>A (p.Leu581His)
c.1739T>A (p.Leu580His)
c.1727T>A (p.Leu576His)

Number of alleles fetched