Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
11g.22262965T>CCA379922913ANO5c.1370T>C (p.Leu457Pro)
c.1778T>C (p.Leu593Pro)
n.2814T>C
c.1775T>C (p.Leu592Pro)
c.1820T>C (p.Leu607Pro)
n.2155T>C
c.1817T>C (p.Leu606Pro)
c.1742T>C (p.Leu581Pro)
c.1739T>C (p.Leu580Pro)
c.1727T>C (p.Leu576Pro)
11g.22262965T>GCA379922914ANO5c.1370T>G (p.Leu457Arg)
c.1778T>G (p.Leu593Arg)
n.2814T>G
c.1775T>G (p.Leu592Arg)
c.1820T>G (p.Leu607Arg)
n.2155T>G
c.1817T>G (p.Leu606Arg)
c.1742T>G (p.Leu581Arg)
c.1739T>G (p.Leu580Arg)
c.1727T>G (p.Leu576Arg)
11g.22262966T>ACA473407317ANO5c.1371T>A (p.Leu457=)
c.1779T>A (p.Leu593=)
n.2815T>A
c.1776T>A (p.Leu592=)
c.1821T>A (p.Leu607=)
n.2156T>A
c.1818T>A (p.Leu606=)
c.1743T>A (p.Leu581=)
c.1740T>A (p.Leu580=)
c.1728T>A (p.Leu576=)
11g.22262966T>CCA473407318ANO5c.1371T>C (p.Leu457=)
c.1779T>C (p.Leu593=)
n.2815T>C
c.1776T>C (p.Leu592=)
c.1821T>C (p.Leu607=)
n.2156T>C
c.1818T>C (p.Leu606=)
c.1743T>C (p.Leu581=)
c.1740T>C (p.Leu580=)
c.1728T>C (p.Leu576=)
11g.22262966T>GCA473407319ANO5c.1371T>G (p.Leu457=)
c.1779T>G (p.Leu593=)
n.2815T>G
c.1776T>G (p.Leu592=)
c.1821T>G (p.Leu607=)
n.2156T>G
c.1818T>G (p.Leu606=)
c.1743T>G (p.Leu581=)
c.1740T>G (p.Leu580=)
c.1728T>G (p.Leu576=)
11g.22262967A=CA1957420190ANO5c.1372A= (p.Ile458=)
c.1780A= (p.Ile594=)
n.2816A=
c.1777A= (p.Ile593=)
c.1822A= (p.Ile608=)
n.2157A=
c.1819A= (p.Ile607=)
c.1744A= (p.Ile582=)
c.1741A= (p.Ile581=)
c.1729A= (p.Ile577=)
11g.22262967A>CCA379922915ANO5c.1372A>C (p.Ile458Leu)
c.1780A>C (p.Ile594Leu)
n.2816A>C
c.1777A>C (p.Ile593Leu)
c.1822A>C (p.Ile608Leu)
n.2157A>C
c.1819A>C (p.Ile607Leu)
c.1744A>C (p.Ile582Leu)
c.1741A>C (p.Ile581Leu)
c.1729A>C (p.Ile577Leu)
11g.22262967A>GCA379922916ANO5c.1372A>G (p.Ile458Val)
c.1780A>G (p.Ile594Val)
n.2816A>G
c.1777A>G (p.Ile593Val)
c.1822A>G (p.Ile608Val)
n.2157A>G
c.1819A>G (p.Ile607Val)
c.1744A>G (p.Ile582Val)
c.1741A>G (p.Ile581Val)
c.1729A>G (p.Ile577Val)
 dbSNP
11g.22262967A>TCA379922917ANO5c.1372A>T (p.Ile458Leu)
c.1780A>T (p.Ile594Leu)
n.2816A>T
c.1777A>T (p.Ile593Leu)
c.1822A>T (p.Ile608Leu)
n.2157A>T
c.1819A>T (p.Ile607Leu)
c.1744A>T (p.Ile582Leu)
c.1741A>T (p.Ile581Leu)
c.1729A>T (p.Ile577Leu)
11g.22262968T>ACA379922918ANO5c.1373T>A (p.Ile458Lys)
c.1781T>A (p.Ile594Lys)
n.2817T>A
c.1778T>A (p.Ile593Lys)
c.1823T>A (p.Ile608Lys)
n.2158T>A
c.1820T>A (p.Ile607Lys)
c.1745T>A (p.Ile582Lys)
c.1742T>A (p.Ile581Lys)
c.1730T>A (p.Ile577Lys)
11g.22262968T>CCA5923370ANO5c.1373T>C (p.Ile458Thr)
c.1781T>C (p.Ile594Thr)
n.2817T>C
c.1778T>C (p.Ile593Thr)
c.1823T>C (p.Ile608Thr)
n.2158T>C
c.1820T>C (p.Ile607Thr)
c.1745T>C (p.Ile582Thr)
c.1742T>C (p.Ile581Thr)
c.1730T>C (p.Ile577Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.22262968T>GCA379922919ANO5c.1373T>G (p.Ile458Arg)
c.1781T>G (p.Ile594Arg)
n.2817T>G
c.1778T>G (p.Ile593Arg)
c.1823T>G (p.Ile608Arg)
n.2158T>G
c.1820T>G (p.Ile607Arg)
c.1745T>G (p.Ile582Arg)
c.1742T>G (p.Ile581Arg)
c.1730T>G (p.Ile577Arg)
11g.22262968T=CA1957420191ANO5c.1373T= (p.Ile458=)
c.1781T= (p.Ile594=)
n.2817T=
c.1778T= (p.Ile593=)
c.1823T= (p.Ile608=)
n.2158T=
c.1820T= (p.Ile607=)
c.1745T= (p.Ile582=)
c.1742T= (p.Ile581=)
c.1730T= (p.Ile577=)
11g.22262969A>CCA473407320ANO5c.1374A>C (p.Ile458=)
c.1782A>C (p.Ile594=)
n.2818A>C
c.1779A>C (p.Ile593=)
c.1824A>C (p.Ile608=)
n.2159A>C
c.1821A>C (p.Ile607=)
c.1746A>C (p.Ile582=)
c.1743A>C (p.Ile581=)
c.1731A>C (p.Ile577=)
11g.22262969A>GCA379922920ANO5c.1374A>G (p.Ile458Met)
c.1782A>G (p.Ile594Met)
n.2818A>G
c.1779A>G (p.Ile593Met)
c.1824A>G (p.Ile608Met)
n.2159A>G
c.1821A>G (p.Ile607Met)
c.1746A>G (p.Ile582Met)
c.1743A>G (p.Ile581Met)
c.1731A>G (p.Ile577Met)
11g.22262969A>TCA473407321ANO5c.1374A>T (p.Ile458=)
c.1782A>T (p.Ile594=)
n.2818A>T
c.1779A>T (p.Ile593=)
c.1824A>T (p.Ile608=)
n.2159A>T
c.1821A>T (p.Ile607=)
c.1746A>T (p.Ile582=)
c.1743A>T (p.Ile581=)
c.1731A>T (p.Ile577=)
11g.22262970G>ACA379922921ANO5c.1375G>A (p.Glu459Lys)
c.1783G>A (p.Glu595Lys)
n.2819G>A
c.1780G>A (p.Glu594Lys)
c.1825G>A (p.Glu609Lys)
n.2160G>A
c.1822G>A (p.Glu608Lys)
c.1747G>A (p.Glu583Lys)
c.1744G>A (p.Glu582Lys)
c.1732G>A (p.Glu578Lys)
11g.22262970G>CCA379922922ANO5c.1375G>C (p.Glu459Gln)
c.1783G>C (p.Glu595Gln)
n.2819G>C
c.1780G>C (p.Glu594Gln)
c.1825G>C (p.Glu609Gln)
n.2160G>C
c.1822G>C (p.Glu608Gln)
c.1747G>C (p.Glu583Gln)
c.1744G>C (p.Glu582Gln)
c.1732G>C (p.Glu578Gln)

Number of alleles fetched