Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.22262954T>A | CA473407309 | ANO5 | c.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=) | |
11 | g.22262954T>C | CA473407308 | ANO5 | c.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=) | |
11 | g.22262954T>G | CA473407307 | ANO5 | c.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=) | |
11 | g.22262955G>A | CA379922890 | ANO5 | c.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) | |
11 | g.22262955G>C | CA379922891 | ANO5 | c.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) | |
11 | g.22262955G>T | CA379922892 | ANO5 | c.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) | |
11 | g.22262956G>A | CA379922893 | ANO5 | c.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) | |
11 | g.22262956G>C | CA379922895 | ANO5 | c.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) | |
11 | g.22262956G>T | CA379922894 | ANO5 | c.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) | |
11 | g.22262957del | CA2574781612 | ANO5 | c.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) | |
11 | g.22262957A>C | CA473407310 | ANO5 | c.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=) | |
11 | g.22262957A>G | CA473407312 | ANO5 | c.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=) | |
11 | g.22262957A>T | CA473407311 | ANO5 | c.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=) | |
11 | g.22262958G>A | CA379922896 | ANO5 | c.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 |
11 | g.22262958G>C | CA379922897 | ANO5 | c.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) | |
11 | g.22262958G>T | CA379922898 | ANO5 | c.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) | |
11 | g.22262959G>A | CA379922899 | ANO5 | c.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 |
11 | g.22262959G>C | CA379922900 | ANO5 | c.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) | |
11 | g.22262959G= | CA1957420187 | ANO5 | c.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=) | |
11 | g.22262959G>T | CA218768657 | ANO5 | c.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 |
11 | g.22262960C>A | CA473407313 | ANO5 | c.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=) | |
11 | g.22262960C>G | CA473407314 | ANO5 | c.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=) | |
11 | g.22262960C>T | CA473407315 | ANO5 | c.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 |
11 | g.22262961T>A | CA379922901 | ANO5 | c.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) | |
11 | g.22262961T>C | CA379922902 | ANO5 | c.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 |
11 | g.22262961T>G | CA379922903 | ANO5 | c.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) | |
11 | g.22262961T= | CA1957420188 | ANO5 | c.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=) | |
11 | g.22262962G>A | CA379922904 | ANO5 | c.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 |
11 | g.22262962G>C | CA379922905 | ANO5 | c.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) | |
11 | g.22262962G>T | CA379922906 | ANO5 | c.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) | |
11 | g.22262963T>A | CA379922908 | ANO5 | c.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) | |
11 | g.22262963T>C | CA5923369 | ANO5 | c.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 |
11 | g.22262963T>G | CA379922907 | ANO5 | c.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) | |
11 | g.22262963T= | CA1957420189 | ANO5 | c.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=) | |
11 | g.22262964C>A | CA379922909 | ANO5 | c.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) | |
11 | g.22262964C>G | CA379922911 | ANO5 | c.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) | |
11 | g.22262964C>T | CA379922910 | ANO5 | c.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) | |
11 | g.22262965T>A | CA379922912 | ANO5 | c.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) | |
11 | g.22262965T>C | CA379922913 | ANO5 | c.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) | |
11 | g.22262965T>G | CA379922914 | ANO5 | c.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) | |
11 | g.22262966T>A | CA473407317 | ANO5 | c.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=) | |
11 | g.22262966T>C | CA473407318 | ANO5 | c.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=) | |
11 | g.22262966T>G | CA473407319 | ANO5 | c.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=) | |
11 | g.22262967A= | CA1957420190 | ANO5 | c.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=) | |
11 | g.22262967A>C | CA379922915 | ANO5 | c.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) | |
11 | g.22262967A>G | CA379922916 | ANO5 | c.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 |
11 | g.22262967A>T | CA379922917 | ANO5 | c.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) | |
11 | g.22262968T>A | CA379922918 | ANO5 | c.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) | |
11 | g.22262968T>C | CA5923370 | ANO5 | c.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 |
11 | g.22262968T>G | CA379922919 | ANO5 | c.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) |