| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.22262944A>C | CA379922867 | ANO5 | c.1351-2A>C (n.1351-2A>C) c.1759-2A>C (n.1759-2A>C) n.2795-2A>C c.1756-2A>C (n.1756-2A>C) c.1801-2A>C (n.1801-2A>C) n.2136-2A>C c.1798-2A>C (n.1798-2A>C) c.1723-2A>C (n.1723-2A>C) c.1720-2A>C (n.1720-2A>C) c.1708-2A>C (n.1708-2A>C) | |
| 11 | g.22262944A>G | CA379922865 | ANO5 | c.1351-2A>G (n.1351-2A>G) c.1759-2A>G (n.1759-2A>G) n.2795-2A>G c.1756-2A>G (n.1756-2A>G) c.1801-2A>G (n.1801-2A>G) n.2136-2A>G c.1798-2A>G (n.1798-2A>G) c.1723-2A>G (n.1723-2A>G) c.1720-2A>G (n.1720-2A>G) c.1708-2A>G (n.1708-2A>G) | gnomAD v4 |
| 11 | g.22262944A>T | CA379922866 | ANO5 | c.1351-2A>T (n.1351-2A>T) c.1759-2A>T (n.1759-2A>T) n.2795-2A>T c.1756-2A>T (n.1756-2A>T) c.1801-2A>T (n.1801-2A>T) n.2136-2A>T c.1798-2A>T (n.1798-2A>T) c.1723-2A>T (n.1723-2A>T) c.1720-2A>T (n.1720-2A>T) c.1708-2A>T (n.1708-2A>T) | |
| 11 | g.22262945G>A | CA379922868 | ANO5 | c.1351-1G>A (n.1351-1G>A) c.1759-1G>A (n.1759-1G>A) n.2795-1G>A c.1756-1G>A (n.1756-1G>A) c.1801-1G>A (n.1801-1G>A) n.2136-1G>A c.1798-1G>A (n.1798-1G>A) c.1723-1G>A (n.1723-1G>A) c.1720-1G>A (n.1720-1G>A) c.1708-1G>A (n.1708-1G>A) | |
| 11 | g.22262945G>C | CA379922869 | ANO5 | c.1351-1G>C (n.1351-1G>C) c.1759-1G>C (n.1759-1G>C) n.2795-1G>C c.1756-1G>C (n.1756-1G>C) c.1801-1G>C (n.1801-1G>C) n.2136-1G>C c.1798-1G>C (n.1798-1G>C) c.1723-1G>C (n.1723-1G>C) c.1720-1G>C (n.1720-1G>C) c.1708-1G>C (n.1708-1G>C) | ClinVar dbSNP gnomAD v4 |
| 11 | g.22262945G>T | CA379922870 | ANO5 | c.1351-1G>T (n.1351-1G>T) c.1759-1G>T (n.1759-1G>T) n.2795-1G>T c.1756-1G>T (n.1756-1G>T) c.1801-1G>T (n.1801-1G>T) n.2136-1G>T c.1798-1G>T (n.1798-1G>T) c.1723-1G>T (n.1723-1G>T) c.1720-1G>T (n.1720-1G>T) c.1708-1G>T (n.1708-1G>T) | |
| 11 | g.22262946T>A | CA379922871 | ANO5 | c.1351T>A (p.Cys451Ser) c.1759T>A (p.Cys587Ser) n.2795T>A c.1756T>A (p.Cys586Ser) c.1801T>A (p.Cys601Ser) n.2136T>A c.1798T>A (p.Cys600Ser) c.1723T>A (p.Cys575Ser) c.1720T>A (p.Cys574Ser) c.1708T>A (p.Cys570Ser) | |
| 11 | g.22262946T>C | CA5923367 | ANO5 | c.1351T>C (p.Cys451Arg) c.1759T>C (p.Cys587Arg) n.2795T>C c.1756T>C (p.Cys586Arg) c.1801T>C (p.Cys601Arg) n.2136T>C c.1798T>C (p.Cys600Arg) c.1723T>C (p.Cys575Arg) c.1720T>C (p.Cys574Arg) c.1708T>C (p.Cys570Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.22262946T>G | CA379922872 | ANO5 | c.1351T>G (p.Cys451Gly) c.1759T>G (p.Cys587Gly) n.2795T>G c.1756T>G (p.Cys586Gly) c.1801T>G (p.Cys601Gly) n.2136T>G c.1798T>G (p.Cys600Gly) c.1723T>G (p.Cys575Gly) c.1720T>G (p.Cys574Gly) c.1708T>G (p.Cys570Gly) | ClinVar gnomAD v4 |
| 11 | g.22262946T= | CA1957420184 | ANO5 | c.1351T= (p.Cys451=) c.1759T= (p.Cys587=) n.2795T= c.1756T= (p.Cys586=) c.1801T= (p.Cys601=) n.2136T= c.1798T= (p.Cys600=) c.1723T= (p.Cys575=) c.1720T= (p.Cys574=) c.1708T= (p.Cys570=) | |
| 11 | g.22262947G>A | CA379922873 | ANO5 | c.1352G>A (p.Cys451Tyr) c.1760G>A (p.Cys587Tyr) n.2796G>A c.1757G>A (p.Cys586Tyr) c.1802G>A (p.Cys601Tyr) n.2137G>A c.1799G>A (p.Cys600Tyr) c.1724G>A (p.Cys575Tyr) c.1721G>A (p.Cys574Tyr) c.1709G>A (p.Cys570Tyr) | |
| 11 | g.22262947G>C | CA379922874 | ANO5 | c.1352G>C (p.Cys451Ser) c.1760G>C (p.Cys587Ser) n.2796G>C c.1757G>C (p.Cys586Ser) c.1802G>C (p.Cys601Ser) n.2137G>C c.1799G>C (p.Cys600Ser) c.1724G>C (p.Cys575Ser) c.1721G>C (p.Cys574Ser) c.1709G>C (p.Cys570Ser) | |
| 11 | g.22262947G>T | CA379922875 | ANO5 | c.1352G>T (p.Cys451Phe) c.1760G>T (p.Cys587Phe) n.2796G>T c.1757G>T (p.Cys586Phe) c.1802G>T (p.Cys601Phe) n.2137G>T c.1799G>T (p.Cys600Phe) c.1724G>T (p.Cys575Phe) c.1721G>T (p.Cys574Phe) c.1709G>T (p.Cys570Phe) | gnomAD v4 |
| 11 | g.22262948T>A | CA218768612 | ANO5 | c.1353T>A (p.Cys451Ter) c.1761T>A (p.Cys587Ter) n.2797T>A c.1758T>A (p.Cys586Ter) c.1803T>A (p.Cys601Ter) n.2138T>A c.1800T>A (p.Cys600Ter) c.1725T>A (p.Cys575Ter) c.1722T>A (p.Cys574Ter) c.1710T>A (p.Cys570Ter) | dbSNP gnomAD v4 |
| 11 | g.22262948T>C | CA10604371 | ANO5 | c.1353T>C (p.Cys451=) c.1761T>C (p.Cys587=) n.2797T>C c.1758T>C (p.Cys586=) c.1803T>C (p.Cys601=) n.2138T>C c.1800T>C (p.Cys600=) c.1725T>C (p.Cys575=) c.1722T>C (p.Cys574=) c.1710T>C (p.Cys570=) | ClinVar dbSNP |
| 11 | g.22262948T>G | CA379922876 | ANO5 | c.1353T>G (p.Cys451Trp) c.1761T>G (p.Cys587Trp) n.2797T>G c.1758T>G (p.Cys586Trp) c.1803T>G (p.Cys601Trp) n.2138T>G c.1800T>G (p.Cys600Trp) c.1725T>G (p.Cys575Trp) c.1722T>G (p.Cys574Trp) c.1710T>G (p.Cys570Trp) | |
| 11 | g.22262948T= | CA1957420185 | ANO5 | c.1353T= (p.Cys451=) c.1761T= (p.Cys587=) n.2797T= c.1758T= (p.Cys586=) c.1803T= (p.Cys601=) n.2138T= c.1800T= (p.Cys600=) c.1725T= (p.Cys575=) c.1722T= (p.Cys574=) c.1710T= (p.Cys570=) | |
| 11 | g.22262949G>A | CA379922878 | ANO5 | c.1354G>A (p.Asp452Asn) c.1762G>A (p.Asp588Asn) n.2798G>A c.1759G>A (p.Asp587Asn) c.1804G>A (p.Asp602Asn) n.2139G>A c.1801G>A (p.Asp601Asn) c.1726G>A (p.Asp576Asn) c.1723G>A (p.Asp575Asn) c.1711G>A (p.Asp571Asn) | |
| 11 | g.22262949G>C | CA5923368 | ANO5 | c.1354G>C (p.Asp452His) c.1762G>C (p.Asp588His) n.2798G>C c.1759G>C (p.Asp587His) c.1804G>C (p.Asp602His) n.2139G>C c.1801G>C (p.Asp601His) c.1726G>C (p.Asp576His) c.1723G>C (p.Asp575His) c.1711G>C (p.Asp571His) | dbSNP ExAC gnomAD v2 |
| 11 | g.22262949G= | CA1957420186 | ANO5 | c.1354G= (p.Asp452=) c.1762G= (p.Asp588=) n.2798G= c.1759G= (p.Asp587=) c.1804G= (p.Asp602=) n.2139G= c.1801G= (p.Asp601=) c.1726G= (p.Asp576=) c.1723G= (p.Asp575=) c.1711G= (p.Asp571=) | |
| 11 | g.22262949G>T | CA379922877 | ANO5 | c.1354G>T (p.Asp452Tyr) c.1762G>T (p.Asp588Tyr) n.2798G>T c.1759G>T (p.Asp587Tyr) c.1804G>T (p.Asp602Tyr) n.2139G>T c.1801G>T (p.Asp601Tyr) c.1726G>T (p.Asp576Tyr) c.1723G>T (p.Asp575Tyr) c.1711G>T (p.Asp571Tyr) | |
| 11 | g.22262950A>C | CA379922879 | ANO5 | c.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) | |
| 11 | g.22262950A>G | CA379922880 | ANO5 | c.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) | |
| 11 | g.22262950A>T | CA379922881 | ANO5 | c.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) | |
| 11 | g.22262951T>A | CA379922882 | ANO5 | c.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) | |
| 11 | g.22262951T>C | CA473407306 | ANO5 | c.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=) | |
| 11 | g.22262951T>G | CA379922883 | ANO5 | c.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) | |
| 11 | g.22262952C>A | CA379922886 | ANO5 | c.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) | |
| 11 | g.22262952C>G | CA379922885 | ANO5 | c.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) | |
| 11 | g.22262952C>T | CA379922884 | ANO5 | c.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) | |
| 11 | g.22262953C>A | CA379922887 | ANO5 | c.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) | |
| 11 | g.22262953C>G | CA379922888 | ANO5 | c.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) | |
| 11 | g.22262953C>T | CA379922889 | ANO5 | c.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) | |
| 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 |