Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
11 | g.22262968T= | CA1957420191 | ANO5 | c.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=) | |
11 | g.22262969A>C | CA473407320 | ANO5 | c.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=) | |
11 | g.22262969A>G | CA379922920 | ANO5 | c.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) | |
11 | g.22262969A>T | CA473407321 | ANO5 | c.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=) | |
11 | g.22262970G>A | CA379922921 | ANO5 | c.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) | |
11 | g.22262970G>C | CA379922922 | ANO5 | c.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) | |
11 | g.22262970G>T | CA379922923 | ANO5 | c.1375G>T (p.Glu459Ter) c.1783G>T (p.Glu595Ter) n.2819G>T c.1780G>T (p.Glu594Ter) c.1825G>T (p.Glu609Ter) n.2160G>T c.1822G>T (p.Glu608Ter) c.1747G>T (p.Glu583Ter) c.1744G>T (p.Glu582Ter) c.1732G>T (p.Glu578Ter) | |
11 | g.22262971A>C | CA379922926 | ANO5 | c.1376A>C (p.Glu459Ala) c.1784A>C (p.Glu595Ala) n.2820A>C c.1781A>C (p.Glu594Ala) c.1826A>C (p.Glu609Ala) n.2161A>C c.1823A>C (p.Glu608Ala) c.1748A>C (p.Glu583Ala) c.1745A>C (p.Glu582Ala) c.1733A>C (p.Glu578Ala) | |
11 | g.22262971A>G | CA379922924 | ANO5 | c.1376A>G (p.Glu459Gly) c.1784A>G (p.Glu595Gly) n.2820A>G c.1781A>G (p.Glu594Gly) c.1826A>G (p.Glu609Gly) n.2161A>G c.1823A>G (p.Glu608Gly) c.1748A>G (p.Glu583Gly) c.1745A>G (p.Glu582Gly) c.1733A>G (p.Glu578Gly) | |
11 | g.22262971A>T | CA379922925 | ANO5 | c.1376A>T (p.Glu459Val) c.1784A>T (p.Glu595Val) n.2820A>T c.1781A>T (p.Glu594Val) c.1826A>T (p.Glu609Val) n.2161A>T c.1823A>T (p.Glu608Val) c.1748A>T (p.Glu583Val) c.1745A>T (p.Glu582Val) c.1733A>T (p.Glu578Val) | |
11 | g.22262978_22262989del | CA2695213372 | ANO5 | c.1383_1394del (p.Thr462_Thr465del) c.1791_1802del (p.Thr598_Thr601del) n.2827_2838del c.1788_1799del (p.Thr597_Thr600del) c.1833_1844del (p.Thr612_Thr615del) n.2168_2179del c.1830_1841del (p.Thr611_Thr614del) c.1755_1766del (p.Thr586_Thr589del) c.1752_1763del (p.Thr585_Thr588del) c.1740_1751del (p.Thr581_Thr584del) | |
11 | g.22262972A= | CA1957420192 | ANO5 | c.1377A= (p.Glu459=) c.1785A= (p.Glu595=) n.2821A= c.1782A= (p.Glu594=) c.1827A= (p.Glu609=) n.2162A= c.1824A= (p.Glu608=) c.1749A= (p.Glu583=) c.1746A= (p.Glu582=) c.1734A= (p.Glu578=) | |
11 | g.22262972A>C | CA379922927 | ANO5 | c.1377A>C (p.Glu459Asp) c.1785A>C (p.Glu595Asp) n.2821A>C c.1782A>C (p.Glu594Asp) c.1827A>C (p.Glu609Asp) n.2162A>C c.1824A>C (p.Glu608Asp) c.1749A>C (p.Glu583Asp) c.1746A>C (p.Glu582Asp) c.1734A>C (p.Glu578Asp) |