| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.22270317C>A | CA379923235 | ANO5 | c.1454C>A (p.Ala485Asp) c.1862C>A (p.Ala621Asp) n.2898C>A c.1859C>A (p.Ala620Asp) c.1904C>A (p.Ala635Asp) n.2239C>A c.1901C>A (p.Ala634Asp) c.1826C>A (p.Ala609Asp) c.1823C>A (p.Ala608Asp) c.1811C>A (p.Ala604Asp) | gnomAD v4 |
| 11 | g.22270317C= | CA1957424060 | ANO5 | c.1454C= (p.Ala485=) c.1862C= (p.Ala621=) n.2898C= c.1859C= (p.Ala620=) c.1904C= (p.Ala635=) n.2239C= c.1901C= (p.Ala634=) c.1826C= (p.Ala609=) c.1823C= (p.Ala608=) c.1811C= (p.Ala604=) | |
| 11 | g.22270317C>G | CA379923236 | ANO5 | c.1454C>G (p.Ala485Gly) c.1862C>G (p.Ala621Gly) n.2898C>G c.1859C>G (p.Ala620Gly) c.1904C>G (p.Ala635Gly) n.2239C>G c.1901C>G (p.Ala634Gly) c.1826C>G (p.Ala609Gly) c.1823C>G (p.Ala608Gly) c.1811C>G (p.Ala604Gly) | |
| 11 | g.22270317C>T | CA5923405 | ANO5 | c.1454C>T (p.Ala485Val) c.1862C>T (p.Ala621Val) n.2898C>T c.1859C>T (p.Ala620Val) c.1904C>T (p.Ala635Val) n.2239C>T c.1901C>T (p.Ala634Val) c.1826C>T (p.Ala609Val) c.1823C>T (p.Ala608Val) c.1811C>T (p.Ala604Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.22270318T>A | CA473407385 | ANO5 | c.1455T>A (p.Ala485=) c.1863T>A (p.Ala621=) n.2899T>A c.1860T>A (p.Ala620=) c.1905T>A (p.Ala635=) n.2240T>A c.1902T>A (p.Ala634=) c.1827T>A (p.Ala609=) c.1824T>A (p.Ala608=) c.1812T>A (p.Ala604=) | |
| 11 | g.22270318T>C | CA473407386 | ANO5 | c.1455T>C (p.Ala485=) c.1863T>C (p.Ala621=) n.2899T>C c.1860T>C (p.Ala620=) c.1905T>C (p.Ala635=) n.2240T>C c.1902T>C (p.Ala634=) c.1827T>C (p.Ala609=) c.1824T>C (p.Ala608=) c.1812T>C (p.Ala604=) | |
| 11 | g.22270318T>G | CA473407387 | ANO5 | c.1455T>G (p.Ala485=) c.1863T>G (p.Ala621=) n.2899T>G c.1860T>G (p.Ala620=) c.1905T>G (p.Ala635=) n.2240T>G c.1902T>G (p.Ala634=) c.1827T>G (p.Ala609=) c.1824T>G (p.Ala608=) c.1812T>G (p.Ala604=) | |
| 11 | g.22270319T>A | CA379923237 | ANO5 | c.1456T>A (p.Leu486Met) c.1864T>A (p.Leu622Met) n.2900T>A c.1861T>A (p.Leu621Met) c.1906T>A (p.Leu636Met) n.2241T>A c.1903T>A (p.Leu635Met) c.1828T>A (p.Leu610Met) c.1825T>A (p.Leu609Met) c.1813T>A (p.Leu605Met) | |
| 11 | g.22270319T>C | CA473407388 | ANO5 | c.1456T>C (p.Leu486=) c.1864T>C (p.Leu622=) n.2900T>C c.1861T>C (p.Leu621=) c.1906T>C (p.Leu636=) n.2241T>C c.1903T>C (p.Leu635=) c.1828T>C (p.Leu610=) c.1825T>C (p.Leu609=) c.1813T>C (p.Leu605=) | |
| 11 | g.22270319T>G | CA379923238 | ANO5 | c.1456T>G (p.Leu486Val) c.1864T>G (p.Leu622Val) n.2900T>G c.1861T>G (p.Leu621Val) c.1906T>G (p.Leu636Val) n.2241T>G c.1903T>G (p.Leu635Val) c.1828T>G (p.Leu610Val) c.1825T>G (p.Leu609Val) c.1813T>G (p.Leu605Val) | |
| 11 | g.22270320T>A | CA379923239 | ANO5 | c.1457T>A (p.Leu486Ter) c.1865T>A (p.Leu622Ter) n.2901T>A c.1862T>A (p.Leu621Ter) c.1907T>A (p.Leu636Ter) n.2242T>A c.1904T>A (p.Leu635Ter) c.1829T>A (p.Leu610Ter) c.1826T>A (p.Leu609Ter) c.1814T>A (p.Leu605Ter) | |
| 11 | g.22270320T>C | CA379923240 | ANO5 | c.1457T>C (p.Leu486Ser) c.1865T>C (p.Leu622Ser) n.2901T>C c.1862T>C (p.Leu621Ser) c.1907T>C (p.Leu636Ser) n.2242T>C c.1904T>C (p.Leu635Ser) c.1829T>C (p.Leu610Ser) c.1826T>C (p.Leu609Ser) c.1814T>C (p.Leu605Ser) | |
| 11 | g.22270320T>G | CA379923241 | ANO5 | c.1457T>G (p.Leu486Trp) c.1865T>G (p.Leu622Trp) n.2901T>G c.1862T>G (p.Leu621Trp) c.1907T>G (p.Leu636Trp) n.2242T>G c.1904T>G (p.Leu635Trp) c.1829T>G (p.Leu610Trp) c.1826T>G (p.Leu609Trp) c.1814T>G (p.Leu605Trp) | |
| 11 | g.22270321G>A | CA473407389 | ANO5 | c.1458G>A (p.Leu486=) c.1866G>A (p.Leu622=) n.2902G>A c.1863G>A (p.Leu621=) c.1908G>A (p.Leu636=) n.2243G>A c.1905G>A (p.Leu635=) c.1830G>A (p.Leu610=) c.1827G>A (p.Leu609=) c.1815G>A (p.Leu605=) | |
| 11 | g.22270321G>C | CA379923242 | ANO5 | c.1458G>C (p.Leu486Phe) c.1866G>C (p.Leu622Phe) n.2902G>C c.1863G>C (p.Leu621Phe) c.1908G>C (p.Leu636Phe) n.2243G>C c.1905G>C (p.Leu635Phe) c.1830G>C (p.Leu610Phe) c.1827G>C (p.Leu609Phe) c.1815G>C (p.Leu605Phe) | ClinVar |
| 11 | g.22270321G= | CA1957424061 | ANO5 | c.1458G= (p.Leu486=) c.1866G= (p.Leu622=) n.2902G= c.1863G= (p.Leu621=) c.1908G= (p.Leu636=) n.2243G= c.1905G= (p.Leu635=) c.1830G= (p.Leu610=) c.1827G= (p.Leu609=) c.1815G= (p.Leu605=) | |
| 11 | g.22270321G>T | CA379923243 | ANO5 | c.1458G>T (p.Leu486Phe) c.1866G>T (p.Leu622Phe) n.2902G>T c.1863G>T (p.Leu621Phe) c.1908G>T (p.Leu636Phe) n.2243G>T c.1905G>T (p.Leu635Phe) c.1830G>T (p.Leu610Phe) c.1827G>T (p.Leu609Phe) c.1815G>T (p.Leu605Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.22270322A>C | CA379923244 | ANO5 | c.1459A>C (p.Asn487His) c.1867A>C (p.Asn623His) n.2903A>C c.1864A>C (p.Asn622His) c.1909A>C (p.Asn637His) n.2244A>C c.1906A>C (p.Asn636His) c.1831A>C (p.Asn611His) c.1828A>C (p.Asn610His) c.1816A>C (p.Asn606His) | |
| 11 | g.22270322A>G | CA379923245 | ANO5 | c.1459A>G (p.Asn487Asp) c.1867A>G (p.Asn623Asp) n.2903A>G c.1864A>G (p.Asn622Asp) c.1909A>G (p.Asn637Asp) n.2244A>G c.1906A>G (p.Asn636Asp) c.1831A>G (p.Asn611Asp) c.1828A>G (p.Asn610Asp) c.1816A>G (p.Asn606Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.22270322A>T | CA379923246 | ANO5 | c.1459A>T (p.Asn487Tyr) c.1867A>T (p.Asn623Tyr) n.2903A>T c.1864A>T (p.Asn622Tyr) c.1909A>T (p.Asn637Tyr) n.2244A>T c.1906A>T (p.Asn636Tyr) c.1831A>T (p.Asn611Tyr) c.1828A>T (p.Asn610Tyr) c.1816A>T (p.Asn606Tyr) | |
| 11 | g.22270323A>C | CA379923247 | ANO5 | c.1460A>C (p.Asn487Thr) c.1868A>C (p.Asn623Thr) n.2904A>C c.1865A>C (p.Asn622Thr) c.1910A>C (p.Asn637Thr) n.2245A>C c.1907A>C (p.Asn636Thr) c.1832A>C (p.Asn611Thr) c.1829A>C (p.Asn610Thr) c.1817A>C (p.Asn606Thr) | |
| 11 | g.22270323A>G | CA379923248 | ANO5 | c.1460A>G (p.Asn487Ser) c.1868A>G (p.Asn623Ser) n.2904A>G c.1865A>G (p.Asn622Ser) c.1910A>G (p.Asn637Ser) n.2245A>G c.1907A>G (p.Asn636Ser) c.1832A>G (p.Asn611Ser) c.1829A>G (p.Asn610Ser) c.1817A>G (p.Asn606Ser) | |
| 11 | g.22270323A>T | CA379923249 | ANO5 | c.1460A>T (p.Asn487Ile) c.1868A>T (p.Asn623Ile) n.2904A>T c.1865A>T (p.Asn622Ile) c.1910A>T (p.Asn637Ile) n.2245A>T c.1907A>T (p.Asn636Ile) c.1832A>T (p.Asn611Ile) c.1829A>T (p.Asn610Ile) c.1817A>T (p.Asn606Ile) | |
| 11 | g.22270324T>A | CA379923250 | ANO5 | c.1461T>A (p.Asn487Lys) c.1869T>A (p.Asn623Lys) n.2905T>A c.1866T>A (p.Asn622Lys) c.1911T>A (p.Asn637Lys) n.2246T>A c.1908T>A (p.Asn636Lys) c.1833T>A (p.Asn611Lys) c.1830T>A (p.Asn610Lys) c.1818T>A (p.Asn606Lys) | |
| 11 | g.22270324T>C | CA473407390 | ANO5 | c.1461T>C (p.Asn487=) c.1869T>C (p.Asn623=) n.2905T>C c.1866T>C (p.Asn622=) c.1911T>C (p.Asn637=) n.2246T>C c.1908T>C (p.Asn636=) c.1833T>C (p.Asn611=) c.1830T>C (p.Asn610=) c.1818T>C (p.Asn606=) | |
| 11 | g.22270324T>G | CA379923251 | ANO5 | c.1461T>G (p.Asn487Lys) c.1869T>G (p.Asn623Lys) n.2905T>G c.1866T>G (p.Asn622Lys) c.1911T>G (p.Asn637Lys) n.2246T>G c.1908T>G (p.Asn636Lys) c.1833T>G (p.Asn611Lys) c.1830T>G (p.Asn610Lys) c.1818T>G (p.Asn606Lys) | |
| 11 | g.22270325dup | CA2612836908 | ANO5 | c.1462dup (p.Trp488LeufsTer12) c.1870dup (p.Trp624LeufsTer12) n.2906dup c.1867dup (p.Trp623LeufsTer12) c.1912dup (p.Trp638LeufsTer12) n.2247dup c.1909dup (p.Trp637LeufsTer12) c.1834dup (p.Trp612LeufsTer12) c.1831dup (p.Trp611LeufsTer12) c.1819dup (p.Trp607LeufsTer12) | gnomAD v4 |
| 11 | g.22270324_22270327delinsTTGG | CA1957424062 | ANO5 | c.1461_1464delinsTTGG (p.Asn487=) c.1869_1872delinsTTGG (p.Asn623=) n.2905_2908delinsTTGG c.1866_1869delinsTTGG (p.Asn622=) c.1911_1914delinsTTGG (p.Asn637=) n.2246_2249delinsTTGG c.1908_1911delinsTTGG (p.Asn636=) c.1833_1836delinsTTGG (p.Asn611=) c.1830_1833delinsTTGG (p.Asn610=) c.1818_1821delinsTTGG (p.Asn606=) | |
| 11 | g.22270325T>A | CA379923252 | ANO5 | c.1462T>A (p.Trp488Arg) c.1870T>A (p.Trp624Arg) n.2906T>A c.1867T>A (p.Trp623Arg) c.1912T>A (p.Trp638Arg) n.2247T>A c.1909T>A (p.Trp637Arg) c.1834T>A (p.Trp612Arg) c.1831T>A (p.Trp611Arg) c.1819T>A (p.Trp607Arg) | |
| 11 | g.22270325T>C | CA379923254 | ANO5 | c.1462T>C (p.Trp488Arg) c.1870T>C (p.Trp624Arg) n.2906T>C c.1867T>C (p.Trp623Arg) c.1912T>C (p.Trp638Arg) n.2247T>C c.1909T>C (p.Trp637Arg) c.1834T>C (p.Trp612Arg) c.1831T>C (p.Trp611Arg) c.1819T>C (p.Trp607Arg) | gnomAD v4 |
| 11 | g.22270325T>G | CA379923253 | ANO5 | c.1462T>G (p.Trp488Gly) c.1870T>G (p.Trp624Gly) n.2906T>G c.1867T>G (p.Trp623Gly) c.1912T>G (p.Trp638Gly) n.2247T>G c.1909T>G (p.Trp637Gly) c.1834T>G (p.Trp612Gly) c.1831T>G (p.Trp611Gly) c.1819T>G (p.Trp607Gly) | |
| 11 | g.22270328_22270330del | CA10605609 | ANO5 | c.1465_1467del (p.Trp489del) c.1873_1875del (p.Trp625del) n.2909_2911del c.1870_1872del (p.Trp624del) c.1915_1917del (p.Trp639del) n.2250_2252del c.1912_1914del (p.Trp638del) c.1837_1839del (p.Trp613del) c.1834_1836del (p.Trp612del) c.1822_1824del (p.Trp608del) | ClinVar dbSNP |
| 11 | g.22270326G>A | CA379923255 | ANO5 | c.1463G>A (p.Trp488Ter) c.1871G>A (p.Trp624Ter) n.2907G>A c.1868G>A (p.Trp623Ter) c.1913G>A (p.Trp638Ter) n.2248G>A c.1910G>A (p.Trp637Ter) c.1835G>A (p.Trp612Ter) c.1832G>A (p.Trp611Ter) c.1820G>A (p.Trp607Ter) | |
| 11 | g.22270326G>C | CA379923256 | ANO5 | c.1463G>C (p.Trp488Ser) c.1871G>C (p.Trp624Ser) n.2907G>C c.1868G>C (p.Trp623Ser) c.1913G>C (p.Trp638Ser) n.2248G>C c.1910G>C (p.Trp637Ser) c.1835G>C (p.Trp612Ser) c.1832G>C (p.Trp611Ser) c.1820G>C (p.Trp607Ser) | |
| 11 | g.22270326G>T | CA379923257 | ANO5 | c.1463G>T (p.Trp488Leu) c.1871G>T (p.Trp624Leu) n.2907G>T c.1868G>T (p.Trp623Leu) c.1913G>T (p.Trp638Leu) n.2248G>T c.1910G>T (p.Trp637Leu) c.1835G>T (p.Trp612Leu) c.1832G>T (p.Trp611Leu) c.1820G>T (p.Trp607Leu) | |
| 11 | g.22270327G>A | CA379923258 | ANO5 | c.1464G>A (p.Trp488Ter) c.1872G>A (p.Trp624Ter) n.2908G>A c.1869G>A (p.Trp623Ter) c.1914G>A (p.Trp638Ter) n.2249G>A c.1911G>A (p.Trp637Ter) c.1836G>A (p.Trp612Ter) c.1833G>A (p.Trp611Ter) c.1821G>A (p.Trp607Ter) | gnomAD v4 |
| 11 | g.22270327G>C | CA379923259 | ANO5 | c.1464G>C (p.Trp488Cys) c.1872G>C (p.Trp624Cys) n.2908G>C c.1869G>C (p.Trp623Cys) c.1914G>C (p.Trp638Cys) n.2249G>C c.1911G>C (p.Trp637Cys) c.1836G>C (p.Trp612Cys) c.1833G>C (p.Trp611Cys) c.1821G>C (p.Trp607Cys) | |
| 11 | g.22270327G>T | CA379923260 | ANO5 | c.1464G>T (p.Trp488Cys) c.1872G>T (p.Trp624Cys) n.2908G>T c.1869G>T (p.Trp623Cys) c.1914G>T (p.Trp638Cys) n.2249G>T c.1911G>T (p.Trp637Cys) c.1836G>T (p.Trp612Cys) c.1833G>T (p.Trp611Cys) c.1821G>T (p.Trp607Cys) | gnomAD v4 COSMIC |
| 11 | g.22270328T>A | CA379923261 | ANO5 | c.1465T>A (p.Trp489Arg) c.1873T>A (p.Trp625Arg) n.2909T>A c.1870T>A (p.Trp624Arg) c.1915T>A (p.Trp639Arg) n.2250T>A c.1912T>A (p.Trp638Arg) c.1837T>A (p.Trp613Arg) c.1834T>A (p.Trp612Arg) c.1822T>A (p.Trp608Arg) | |
| 11 | g.22270328T>C | CA218774123 | ANO5 | c.1465T>C (p.Trp489Arg) c.1873T>C (p.Trp625Arg) n.2909T>C c.1870T>C (p.Trp624Arg) c.1915T>C (p.Trp639Arg) n.2250T>C c.1912T>C (p.Trp638Arg) c.1837T>C (p.Trp613Arg) c.1834T>C (p.Trp612Arg) c.1822T>C (p.Trp608Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.22270328T>G | CA379923262 | ANO5 | c.1465T>G (p.Trp489Gly) c.1873T>G (p.Trp625Gly) n.2909T>G c.1870T>G (p.Trp624Gly) c.1915T>G (p.Trp639Gly) n.2250T>G c.1912T>G (p.Trp638Gly) c.1837T>G (p.Trp613Gly) c.1834T>G (p.Trp612Gly) c.1822T>G (p.Trp608Gly) | |
| 11 | g.22270328T= | CA1957424063 | ANO5 | c.1465T= (p.Trp489=) c.1873T= (p.Trp625=) n.2909T= c.1870T= (p.Trp624=) c.1915T= (p.Trp639=) n.2250T= c.1912T= (p.Trp638=) c.1837T= (p.Trp613=) c.1834T= (p.Trp612=) c.1822T= (p.Trp608=) | |
| 11 | g.22270329G>A | CA379923265 | ANO5 | c.1466G>A (p.Trp489Ter) c.1874G>A (p.Trp625Ter) n.2910G>A c.1871G>A (p.Trp624Ter) c.1916G>A (p.Trp639Ter) n.2251G>A c.1913G>A (p.Trp638Ter) c.1838G>A (p.Trp613Ter) c.1835G>A (p.Trp612Ter) c.1823G>A (p.Trp608Ter) | |
| 11 | g.22270329G>C | CA379923264 | ANO5 | c.1466G>C (p.Trp489Ser) c.1874G>C (p.Trp625Ser) n.2910G>C c.1871G>C (p.Trp624Ser) c.1916G>C (p.Trp639Ser) n.2251G>C c.1913G>C (p.Trp638Ser) c.1838G>C (p.Trp613Ser) c.1835G>C (p.Trp612Ser) c.1823G>C (p.Trp608Ser) | |
| 11 | g.22270329G>T | CA379923263 | ANO5 | c.1466G>T (p.Trp489Leu) c.1874G>T (p.Trp625Leu) n.2910G>T c.1871G>T (p.Trp624Leu) c.1916G>T (p.Trp639Leu) n.2251G>T c.1913G>T (p.Trp638Leu) c.1838G>T (p.Trp613Leu) c.1835G>T (p.Trp612Leu) c.1823G>T (p.Trp608Leu) | |
| 11 | g.22270330G>A | CA379923268 | ANO5 | c.1467G>A (p.Trp489Ter) c.1875G>A (p.Trp625Ter) n.2911G>A c.1872G>A (p.Trp624Ter) c.1917G>A (p.Trp639Ter) n.2252G>A c.1914G>A (p.Trp638Ter) c.1839G>A (p.Trp613Ter) c.1836G>A (p.Trp612Ter) c.1824G>A (p.Trp608Ter) | gnomAD v4 |
| 11 | g.22270330G>C | CA379923266 | ANO5 | c.1467G>C (p.Trp489Cys) c.1875G>C (p.Trp625Cys) n.2911G>C c.1872G>C (p.Trp624Cys) c.1917G>C (p.Trp639Cys) n.2252G>C c.1914G>C (p.Trp638Cys) c.1839G>C (p.Trp613Cys) c.1836G>C (p.Trp612Cys) c.1824G>C (p.Trp608Cys) | |
| 11 | g.22270330G>T | CA379923267 | ANO5 | c.1467G>T (p.Trp489Cys) c.1875G>T (p.Trp625Cys) n.2911G>T c.1872G>T (p.Trp624Cys) c.1917G>T (p.Trp639Cys) n.2252G>T c.1914G>T (p.Trp638Cys) c.1839G>T (p.Trp613Cys) c.1836G>T (p.Trp612Cys) c.1824G>T (p.Trp608Cys) | |
| 11 | g.22270331A>C | CA473407391 | ANO5 | c.1468A>C (p.Arg490=) c.1876A>C (p.Arg626=) n.2912A>C c.1873A>C (p.Arg625=) c.1918A>C (p.Arg640=) n.2253A>C c.1915A>C (p.Arg639=) c.1840A>C (p.Arg614=) c.1837A>C (p.Arg613=) c.1825A>C (p.Arg609=) | |
| 11 | g.22270331A>G | CA379923269 | ANO5 | c.1468A>G (p.Arg490Gly) c.1876A>G (p.Arg626Gly) n.2912A>G c.1873A>G (p.Arg625Gly) c.1918A>G (p.Arg640Gly) n.2253A>G c.1915A>G (p.Arg639Gly) c.1840A>G (p.Arg614Gly) c.1837A>G (p.Arg613Gly) c.1825A>G (p.Arg609Gly) |