Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
11 | g.22270331A>T | CA379923270 | ANO5 | c.1468A>T (p.Arg490Ter) c.1876A>T (p.Arg626Ter) n.2912A>T c.1873A>T (p.Arg625Ter) c.1918A>T (p.Arg640Ter) n.2253A>T c.1915A>T (p.Arg639Ter) c.1840A>T (p.Arg614Ter) c.1837A>T (p.Arg613Ter) c.1825A>T (p.Arg609Ter) | |
11 | g.22270332G>A | CA379923271 | ANO5 | c.1469G>A (p.Arg490Lys) c.1877G>A (p.Arg626Lys) n.2913G>A c.1874G>A (p.Arg625Lys) c.1919G>A (p.Arg640Lys) n.2254G>A c.1916G>A (p.Arg639Lys) c.1841G>A (p.Arg614Lys) c.1838G>A (p.Arg613Lys) c.1826G>A (p.Arg609Lys) | |
11 | g.22270332G>C | CA379923272 | ANO5 | c.1469G>C (p.Arg490Thr) c.1877G>C (p.Arg626Thr) n.2913G>C c.1874G>C (p.Arg625Thr) c.1919G>C (p.Arg640Thr) n.2254G>C c.1916G>C (p.Arg639Thr) c.1841G>C (p.Arg614Thr) c.1838G>C (p.Arg613Thr) c.1826G>C (p.Arg609Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.22270332G= | CA1957424064 | ANO5 | c.1469G= (p.Arg490=) c.1877G= (p.Arg626=) n.2913G= c.1874G= (p.Arg625=) c.1919G= (p.Arg640=) n.2254G= c.1916G= (p.Arg639=) c.1841G= (p.Arg614=) c.1838G= (p.Arg613=) c.1826G= (p.Arg609=) | |
11 | g.22270332G>T | CA379923273 | ANO5 | c.1469G>T (p.Arg490Ile) c.1877G>T (p.Arg626Ile) n.2913G>T c.1874G>T (p.Arg625Ile) c.1919G>T (p.Arg640Ile) n.2254G>T c.1916G>T (p.Arg639Ile) c.1841G>T (p.Arg614Ile) c.1838G>T (p.Arg613Ile) c.1826G>T (p.Arg609Ile) | |
11 | g.22270333A>C | CA379923274 | ANO5 | c.1470A>C (p.Arg490Ser) c.1878A>C (p.Arg626Ser) n.2914A>C c.1875A>C (p.Arg625Ser) c.1920A>C (p.Arg640Ser) n.2255A>C c.1917A>C (p.Arg639Ser) c.1842A>C (p.Arg614Ser) c.1839A>C (p.Arg613Ser) c.1827A>C (p.Arg609Ser) | |
11 | g.22270333A>G | CA473407392 | ANO5 | c.1470A>G (p.Arg490=) c.1878A>G (p.Arg626=) n.2914A>G c.1875A>G (p.Arg625=) c.1920A>G (p.Arg640=) n.2255A>G c.1917A>G (p.Arg639=) c.1842A>G (p.Arg614=) c.1839A>G (p.Arg613=) c.1827A>G (p.Arg609=) | gnomAD v4 |
11 | g.22270333A>T | CA379923275 | ANO5 | c.1470A>T (p.Arg490Ser) c.1878A>T (p.Arg626Ser) n.2914A>T c.1875A>T (p.Arg625Ser) c.1920A>T (p.Arg640Ser) n.2255A>T c.1917A>T (p.Arg639Ser) c.1842A>T (p.Arg614Ser) c.1839A>T (p.Arg613Ser) c.1827A>T (p.Arg609Ser) | ClinVar dbSNP gnomAD v4 |
11 | g.22270334C>A | CA379923276 | ANO5 | c.1471C>A (p.Arg491Ser) c.1879C>A (p.Arg627Ser) n.2915C>A c.1876C>A (p.Arg626Ser) c.1921C>A (p.Arg641Ser) n.2256C>A c.1918C>A (p.Arg640Ser) c.1843C>A (p.Arg615Ser) c.1840C>A (p.Arg614Ser) c.1828C>A (p.Arg610Ser) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.22270334C= | CA1957424065 | ANO5 | c.1471C= (p.Arg491=) c.1879C= (p.Arg627=) n.2915C= c.1876C= (p.Arg626=) c.1921C= (p.Arg641=) n.2256C= c.1918C= (p.Arg640=) c.1843C= (p.Arg615=) c.1840C= (p.Arg614=) c.1828C= (p.Arg610=) | |
11 | g.22270334C>G | CA379923277 | ANO5 | c.1471C>G (p.Arg491Gly) c.1879C>G (p.Arg627Gly) n.2915C>G c.1876C>G (p.Arg626Gly) c.1921C>G (p.Arg641Gly) n.2256C>G c.1918C>G (p.Arg640Gly) c.1843C>G (p.Arg615Gly) c.1840C>G (p.Arg614Gly) c.1828C>G (p.Arg610Gly) | |
11 | g.22270334C>T | CA5923406 | ANO5 | c.1471C>T (p.Arg491Cys) c.1879C>T (p.Arg627Cys) n.2915C>T c.1876C>T (p.Arg626Cys) c.1921C>T (p.Arg641Cys) n.2256C>T c.1918C>T (p.Arg640Cys) c.1843C>T (p.Arg615Cys) c.1840C>T (p.Arg614Cys) c.1828C>T (p.Arg610Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.22270335G>A | CA5923407 | ANO5 | c.1472G>A (p.Arg491His) c.1880G>A (p.Arg627His) n.2916G>A c.1877G>A (p.Arg626His) c.1922G>A (p.Arg641His) n.2257G>A c.1919G>A (p.Arg640His) c.1844G>A (p.Arg615His) c.1841G>A (p.Arg614His) c.1829G>A (p.Arg610His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.22270335G>C | CA379923279 | ANO5 | c.1472G>C (p.Arg491Pro) c.1880G>C (p.Arg627Pro) n.2916G>C c.1877G>C (p.Arg626Pro) c.1922G>C (p.Arg641Pro) n.2257G>C c.1919G>C (p.Arg640Pro) c.1844G>C (p.Arg615Pro) c.1841G>C (p.Arg614Pro) c.1829G>C (p.Arg610Pro) | |
11 | g.22270335G= | CA1957424066 | ANO5 | c.1472G= (p.Arg491=) c.1880G= (p.Arg627=) n.2916G= c.1877G= (p.Arg626=) c.1922G= (p.Arg641=) n.2257G= c.1919G= (p.Arg640=) c.1844G= (p.Arg615=) c.1841G= (p.Arg614=) c.1829G= (p.Arg610=) | |
11 | g.22270335G>T | CA379923278 | ANO5 | c.1472G>T (p.Arg491Leu) c.1880G>T (p.Arg627Leu) n.2916G>T c.1877G>T (p.Arg626Leu) c.1922G>T (p.Arg641Leu) n.2257G>T c.1919G>T (p.Arg640Leu) c.1844G>T (p.Arg615Leu) c.1841G>T (p.Arg614Leu) c.1829G>T (p.Arg610Leu) | COSMIC |
11 | g.22270336C>A | CA473407393 | ANO5 | c.1473C>A (p.Arg491=) c.1881C>A (p.Arg627=) n.2917C>A c.1878C>A (p.Arg626=) c.1923C>A (p.Arg641=) n.2258C>A c.1920C>A (p.Arg640=) c.1845C>A (p.Arg615=) c.1842C>A (p.Arg614=) c.1830C>A (p.Arg610=) | |
11 | g.22270336C= | CA1957424067 | ANO5 | c.1473C= (p.Arg491=) c.1881C= (p.Arg627=) n.2917C= c.1878C= (p.Arg626=) c.1923C= (p.Arg641=) n.2258C= c.1920C= (p.Arg640=) c.1845C= (p.Arg615=) c.1842C= (p.Arg614=) c.1830C= (p.Arg610=) | |
11 | g.22270336C>G | CA473407394 | ANO5 | c.1473C>G (p.Arg491=) c.1881C>G (p.Arg627=) n.2917C>G c.1878C>G (p.Arg626=) c.1923C>G (p.Arg641=) n.2258C>G c.1920C>G (p.Arg640=) c.1845C>G (p.Arg615=) c.1842C>G (p.Arg614=) c.1830C>G (p.Arg610=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.22270336C>T | CA473407395 | ANO5 | c.1473C>T (p.Arg491=) c.1881C>T (p.Arg627=) n.2917C>T c.1878C>T (p.Arg626=) c.1923C>T (p.Arg641=) n.2258C>T c.1920C>T (p.Arg640=) c.1845C>T (p.Arg615=) c.1842C>T (p.Arg614=) c.1830C>T (p.Arg610=) | gnomAD v4 |
11 | g.22270337C>A | CA473407396 | ANO5 | c.1474C>A (p.Arg492=) c.1882C>A (p.Arg628=) n.2918C>A c.1879C>A (p.Arg627=) c.1924C>A (p.Arg642=) n.2259C>A c.1921C>A (p.Arg641=) c.1846C>A (p.Arg616=) c.1843C>A (p.Arg615=) c.1831C>A (p.Arg611=) | |
11 | g.22270337C= | CA1957424068 | ANO5 | c.1474C= (p.Arg492=) c.1882C= (p.Arg628=) n.2918C= c.1879C= (p.Arg627=) c.1924C= (p.Arg642=) n.2259C= c.1921C= (p.Arg641=) c.1846C= (p.Arg616=) c.1843C= (p.Arg615=) c.1831C= (p.Arg611=) | |
11 | g.22270337C>G | CA5923408 | ANO5 | c.1474C>G (p.Arg492Gly) c.1882C>G (p.Arg628Gly) n.2918C>G c.1879C>G (p.Arg627Gly) c.1924C>G (p.Arg642Gly) n.2259C>G c.1921C>G (p.Arg641Gly) c.1846C>G (p.Arg616Gly) c.1843C>G (p.Arg615Gly) c.1831C>G (p.Arg611Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22270337C>T | CA5923409 | ANO5 | c.1474C>T (p.Arg492Ter) c.1882C>T (p.Arg628Ter) n.2918C>T c.1879C>T (p.Arg627Ter) c.1924C>T (p.Arg642Ter) n.2259C>T c.1921C>T (p.Arg641Ter) c.1846C>T (p.Arg616Ter) c.1843C>T (p.Arg615Ter) c.1831C>T (p.Arg611Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
11 | g.22270338G>A | CA5923410 | ANO5 | c.1475G>A (p.Arg492Gln) c.1883G>A (p.Arg628Gln) n.2919G>A c.1880G>A (p.Arg627Gln) c.1925G>A (p.Arg642Gln) n.2260G>A c.1922G>A (p.Arg641Gln) c.1847G>A (p.Arg616Gln) c.1844G>A (p.Arg615Gln) c.1832G>A (p.Arg611Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.22270338G>C | CA379923280 | ANO5 | c.1475G>C (p.Arg492Pro) c.1883G>C (p.Arg628Pro) n.2919G>C c.1880G>C (p.Arg627Pro) c.1925G>C (p.Arg642Pro) n.2260G>C c.1922G>C (p.Arg641Pro) c.1847G>C (p.Arg616Pro) c.1844G>C (p.Arg615Pro) c.1832G>C (p.Arg611Pro) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.22270338G= | CA1957424069 | ANO5 | c.1475G= (p.Arg492=) c.1883G= (p.Arg628=) n.2919G= c.1880G= (p.Arg627=) c.1925G= (p.Arg642=) n.2260G= c.1922G= (p.Arg641=) c.1847G= (p.Arg616=) c.1844G= (p.Arg615=) c.1832G= (p.Arg611=) | |
11 | g.22270338G>T | CA379923281 | ANO5 | c.1475G>T (p.Arg492Leu) c.1883G>T (p.Arg628Leu) n.2919G>T c.1880G>T (p.Arg627Leu) c.1925G>T (p.Arg642Leu) n.2260G>T c.1922G>T (p.Arg641Leu) c.1847G>T (p.Arg616Leu) c.1844G>T (p.Arg615Leu) c.1832G>T (p.Arg611Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22270339A= | CA1957424070 | ANO5 | c.1476A= (p.Arg492=) c.1884A= (p.Arg628=) n.2920A= c.1881A= (p.Arg627=) c.1926A= (p.Arg642=) n.2261A= c.1923A= (p.Arg641=) c.1848A= (p.Arg616=) c.1845A= (p.Arg615=) c.1833A= (p.Arg611=) | |
11 | g.22270339A>C | CA473407397 | ANO5 | c.1476A>C (p.Arg492=) c.1884A>C (p.Arg628=) n.2920A>C c.1881A>C (p.Arg627=) c.1926A>C (p.Arg642=) n.2261A>C c.1923A>C (p.Arg641=) c.1848A>C (p.Arg616=) c.1845A>C (p.Arg615=) c.1833A>C (p.Arg611=) | |
11 | g.22270339A>G | CA473407398 | ANO5 | c.1476A>G (p.Arg492=) c.1884A>G (p.Arg628=) n.2920A>G c.1881A>G (p.Arg627=) c.1926A>G (p.Arg642=) n.2261A>G c.1923A>G (p.Arg641=) c.1848A>G (p.Arg616=) c.1845A>G (p.Arg615=) c.1833A>G (p.Arg611=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.22270339A>T | CA473407399 | ANO5 | c.1476A>T (p.Arg492=) c.1884A>T (p.Arg628=) n.2920A>T c.1881A>T (p.Arg627=) c.1926A>T (p.Arg642=) n.2261A>T c.1923A>T (p.Arg641=) c.1848A>T (p.Arg616=) c.1845A>T (p.Arg615=) c.1833A>T (p.Arg611=) | |
11 | g.22270342del | CA2612836909 | ANO5 | c.1479del (p.Ala494LeufsTer?) c.1887del (p.Ala630LeufsTer?) n.2923del c.1884del (p.Ala629LeufsTer?) c.1929del (p.Ala644LeufsTer?) n.2264del c.1926del (p.Ala643LeufsTer?) c.1851del (p.Ala618LeufsTer?) c.1848del (p.Ala617LeufsTer?) c.1836del (p.Ala613LeufsTer?) | gnomAD v4 |
11 | g.22270340A>C | CA379923282 | ANO5 | c.1477A>C (p.Lys493Gln) c.1885A>C (p.Lys629Gln) n.2921A>C c.1882A>C (p.Lys628Gln) c.1927A>C (p.Lys643Gln) n.2262A>C c.1924A>C (p.Lys642Gln) c.1849A>C (p.Lys617Gln) c.1846A>C (p.Lys616Gln) c.1834A>C (p.Lys612Gln) | |
11 | g.22270340A>G | CA379923283 | ANO5 | c.1477A>G (p.Lys493Glu) c.1885A>G (p.Lys629Glu) n.2921A>G c.1882A>G (p.Lys628Glu) c.1927A>G (p.Lys643Glu) n.2262A>G c.1924A>G (p.Lys642Glu) c.1849A>G (p.Lys617Glu) c.1846A>G (p.Lys616Glu) c.1834A>G (p.Lys612Glu) | |
11 | g.22270340A>T | CA379923284 | ANO5 | c.1477A>T (p.Lys493Ter) c.1885A>T (p.Lys629Ter) n.2921A>T c.1882A>T (p.Lys628Ter) c.1927A>T (p.Lys643Ter) n.2262A>T c.1924A>T (p.Lys642Ter) c.1849A>T (p.Lys617Ter) c.1846A>T (p.Lys616Ter) c.1834A>T (p.Lys612Ter) | |
11 | g.22270341A>C | CA379923285 | ANO5 | c.1478A>C (p.Lys493Thr) c.1886A>C (p.Lys629Thr) n.2922A>C c.1883A>C (p.Lys628Thr) c.1928A>C (p.Lys643Thr) n.2263A>C c.1925A>C (p.Lys642Thr) c.1850A>C (p.Lys617Thr) c.1847A>C (p.Lys616Thr) c.1835A>C (p.Lys612Thr) | |
11 | g.22270341A>G | CA379923286 | ANO5 | c.1478A>G (p.Lys493Arg) c.1886A>G (p.Lys629Arg) n.2922A>G c.1883A>G (p.Lys628Arg) c.1928A>G (p.Lys643Arg) n.2263A>G c.1925A>G (p.Lys642Arg) c.1850A>G (p.Lys617Arg) c.1847A>G (p.Lys616Arg) c.1835A>G (p.Lys612Arg) | |
11 | g.22270341A>T | CA379923287 | ANO5 | c.1478A>T (p.Lys493Ile) c.1886A>T (p.Lys629Ile) n.2922A>T c.1883A>T (p.Lys628Ile) c.1928A>T (p.Lys643Ile) n.2263A>T c.1925A>T (p.Lys642Ile) c.1850A>T (p.Lys617Ile) c.1847A>T (p.Lys616Ile) c.1835A>T (p.Lys612Ile) | |
11 | g.22270342A>C | CA379923288 | ANO5 | c.1479A>C (p.Lys493Asn) c.1887A>C (p.Lys629Asn) n.2923A>C c.1884A>C (p.Lys628Asn) c.1929A>C (p.Lys643Asn) n.2264A>C c.1926A>C (p.Lys642Asn) c.1851A>C (p.Lys617Asn) c.1848A>C (p.Lys616Asn) c.1836A>C (p.Lys612Asn) | |
11 | g.22270342A>G | CA473407400 | ANO5 | c.1479A>G (p.Lys493=) c.1887A>G (p.Lys629=) n.2923A>G c.1884A>G (p.Lys628=) c.1929A>G (p.Lys643=) n.2264A>G c.1926A>G (p.Lys642=) c.1851A>G (p.Lys617=) c.1848A>G (p.Lys616=) c.1836A>G (p.Lys612=) | |
11 | g.22270342A>T | CA379923289 | ANO5 | c.1479A>T (p.Lys493Asn) c.1887A>T (p.Lys629Asn) n.2923A>T c.1884A>T (p.Lys628Asn) c.1929A>T (p.Lys643Asn) n.2264A>T c.1926A>T (p.Lys642Asn) c.1851A>T (p.Lys617Asn) c.1848A>T (p.Lys616Asn) c.1836A>T (p.Lys612Asn) | |
11 | g.22270343G>A | CA379923291 | ANO5 | c.1480G>A (p.Ala494Thr) c.1888G>A (p.Ala630Thr) n.2924G>A c.1885G>A (p.Ala629Thr) c.1930G>A (p.Ala644Thr) n.2265G>A c.1927G>A (p.Ala643Thr) c.1852G>A (p.Ala618Thr) c.1849G>A (p.Ala617Thr) c.1837G>A (p.Ala613Thr) | |
11 | g.22270343G>C | CA379923292 | ANO5 | c.1480G>C (p.Ala494Pro) c.1888G>C (p.Ala630Pro) n.2924G>C c.1885G>C (p.Ala629Pro) c.1930G>C (p.Ala644Pro) n.2265G>C c.1927G>C (p.Ala643Pro) c.1852G>C (p.Ala618Pro) c.1849G>C (p.Ala617Pro) c.1837G>C (p.Ala613Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22270343G= | CA1957424071 | ANO5 | c.1480G= (p.Ala494=) c.1888G= (p.Ala630=) n.2924G= c.1885G= (p.Ala629=) c.1930G= (p.Ala644=) n.2265G= c.1927G= (p.Ala643=) c.1852G= (p.Ala618=) c.1849G= (p.Ala617=) c.1837G= (p.Ala613=) | |
11 | g.22270343G>T | CA379923290 | ANO5 | c.1480G>T (p.Ala494Ser) c.1888G>T (p.Ala630Ser) n.2924G>T c.1885G>T (p.Ala629Ser) c.1930G>T (p.Ala644Ser) n.2265G>T c.1927G>T (p.Ala643Ser) c.1852G>T (p.Ala618Ser) c.1849G>T (p.Ala617Ser) c.1837G>T (p.Ala613Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22270344C>A | CA379923293 | ANO5 | c.1481C>A (p.Ala494Asp) c.1889C>A (p.Ala630Asp) n.2925C>A c.1886C>A (p.Ala629Asp) c.1931C>A (p.Ala644Asp) n.2266C>A c.1928C>A (p.Ala643Asp) c.1853C>A (p.Ala618Asp) c.1850C>A (p.Ala617Asp) c.1838C>A (p.Ala613Asp) | |
11 | g.22270344C= | CA1957424072 | ANO5 | c.1481C= (p.Ala494=) c.1889C= (p.Ala630=) n.2925C= c.1886C= (p.Ala629=) c.1931C= (p.Ala644=) n.2266C= c.1928C= (p.Ala643=) c.1853C= (p.Ala618=) c.1850C= (p.Ala617=) c.1838C= (p.Ala613=) | |
11 | g.22270344C>G | CA379923294 | ANO5 | c.1481C>G (p.Ala494Gly) c.1889C>G (p.Ala630Gly) n.2925C>G c.1886C>G (p.Ala629Gly) c.1931C>G (p.Ala644Gly) n.2266C>G c.1928C>G (p.Ala643Gly) c.1853C>G (p.Ala618Gly) c.1850C>G (p.Ala617Gly) c.1838C>G (p.Ala613Gly) | |
11 | g.22270344C>T | CA379923295 | ANO5 | c.1481C>T (p.Ala494Val) c.1889C>T (p.Ala630Val) n.2925C>T c.1886C>T (p.Ala629Val) c.1931C>T (p.Ala644Val) n.2266C>T c.1928C>T (p.Ala643Val) c.1853C>T (p.Ala618Val) c.1850C>T (p.Ala617Val) c.1838C>T (p.Ala613Val) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.22270345T>A | CA473407402 | ANO5 | c.1482T>A (p.Ala494=) c.1890T>A (p.Ala630=) n.2926T>A c.1887T>A (p.Ala629=) c.1932T>A (p.Ala644=) n.2267T>A c.1929T>A (p.Ala643=) c.1854T>A (p.Ala618=) c.1851T>A (p.Ala617=) c.1839T>A (p.Ala613=) | |
11 | g.22270345T>C | CA473407404 | ANO5 | c.1482T>C (p.Ala494=) c.1890T>C (p.Ala630=) n.2926T>C c.1887T>C (p.Ala629=) c.1932T>C (p.Ala644=) n.2267T>C c.1929T>C (p.Ala643=) c.1854T>C (p.Ala618=) c.1851T>C (p.Ala617=) c.1839T>C (p.Ala613=) | |
11 | g.22270345T>G | CA473407403 | ANO5 | c.1482T>G (p.Ala494=) c.1890T>G (p.Ala630=) n.2926T>G c.1887T>G (p.Ala629=) c.1932T>G (p.Ala644=) n.2267T>G c.1929T>G (p.Ala643=) c.1854T>G (p.Ala618=) c.1851T>G (p.Ala617=) c.1839T>G (p.Ala613=) | |
11 | g.22270346C>A | CA473407405 | ANO5 | c.1483C>A (p.Arg495=) c.1891C>A (p.Arg631=) n.2927C>A c.1888C>A (p.Arg630=) c.1933C>A (p.Arg645=) n.2268C>A c.1930C>A (p.Arg644=) c.1855C>A (p.Arg619=) c.1852C>A (p.Arg618=) c.1840C>A (p.Arg614=) | |
11 | g.22270346C= | CA1957424073 | ANO5 | c.1483C= (p.Arg495=) c.1891C= (p.Arg631=) n.2927C= c.1888C= (p.Arg630=) c.1933C= (p.Arg645=) n.2268C= c.1930C= (p.Arg644=) c.1855C= (p.Arg619=) c.1852C= (p.Arg618=) c.1840C= (p.Arg614=) | |
11 | g.22270346C>G | CA379923296 | ANO5 | c.1483C>G (p.Arg495Gly) c.1891C>G (p.Arg631Gly) n.2927C>G c.1888C>G (p.Arg630Gly) c.1933C>G (p.Arg645Gly) n.2268C>G c.1930C>G (p.Arg644Gly) c.1855C>G (p.Arg619Gly) c.1852C>G (p.Arg618Gly) c.1840C>G (p.Arg614Gly) | gnomAD v4 |
11 | g.22270346C>T | CA5923411 | ANO5 | c.1483C>T (p.Arg495Trp) c.1891C>T (p.Arg631Trp) n.2927C>T c.1888C>T (p.Arg630Trp) c.1933C>T (p.Arg645Trp) n.2268C>T c.1930C>T (p.Arg644Trp) c.1855C>T (p.Arg619Trp) c.1852C>T (p.Arg618Trp) c.1840C>T (p.Arg614Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22270347G>A | CA5923412 | ANO5 | c.1484G>A (p.Arg495Gln) c.1892G>A (p.Arg631Gln) n.2928G>A c.1889G>A (p.Arg630Gln) c.1934G>A (p.Arg645Gln) n.2269G>A c.1931G>A (p.Arg644Gln) c.1856G>A (p.Arg619Gln) c.1853G>A (p.Arg618Gln) c.1841G>A (p.Arg614Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.22270347G>C | CA379923298 | ANO5 | c.1484G>C (p.Arg495Pro) c.1892G>C (p.Arg631Pro) n.2928G>C c.1889G>C (p.Arg630Pro) c.1934G>C (p.Arg645Pro) n.2269G>C c.1931G>C (p.Arg644Pro) c.1856G>C (p.Arg619Pro) c.1853G>C (p.Arg618Pro) c.1841G>C (p.Arg614Pro) | |
11 | g.22270347G= | CA1957424074 | ANO5 | c.1484G= (p.Arg495=) c.1892G= (p.Arg631=) n.2928G= c.1889G= (p.Arg630=) c.1934G= (p.Arg645=) n.2269G= c.1931G= (p.Arg644=) c.1856G= (p.Arg619=) c.1853G= (p.Arg618=) c.1841G= (p.Arg614=) | |
11 | g.22270347G>T | CA379923297 | ANO5 | c.1484G>T (p.Arg495Leu) c.1892G>T (p.Arg631Leu) n.2928G>T c.1889G>T (p.Arg630Leu) c.1934G>T (p.Arg645Leu) n.2269G>T c.1931G>T (p.Arg644Leu) c.1856G>T (p.Arg619Leu) c.1853G>T (p.Arg618Leu) c.1841G>T (p.Arg614Leu) | |
11 | g.22270348G>A | CA473407406 | ANO5 | c.1485G>A (p.Arg495=) c.1893G>A (p.Arg631=) n.2929G>A c.1890G>A (p.Arg630=) c.1935G>A (p.Arg645=) n.2270G>A c.1932G>A (p.Arg644=) c.1857G>A (p.Arg619=) c.1854G>A (p.Arg618=) c.1842G>A (p.Arg614=) | |
11 | g.22270348G>C | CA473407407 | ANO5 | c.1485G>C (p.Arg495=) c.1893G>C (p.Arg631=) n.2929G>C c.1890G>C (p.Arg630=) c.1935G>C (p.Arg645=) n.2270G>C c.1932G>C (p.Arg644=) c.1857G>C (p.Arg619=) c.1854G>C (p.Arg618=) c.1842G>C (p.Arg614=) | |
11 | g.22270348G>T | CA473407408 | ANO5 | c.1485G>T (p.Arg495=) c.1893G>T (p.Arg631=) n.2929G>T c.1890G>T (p.Arg630=) c.1935G>T (p.Arg645=) n.2270G>T c.1932G>T (p.Arg644=) c.1857G>T (p.Arg619=) c.1854G>T (p.Arg618=) c.1842G>T (p.Arg614=) | |
11 | g.22270349A= | CA1957424075 | ANO5 | c.1486A= (p.Thr496=) c.1894A= (p.Thr632=) n.2930A= c.1891A= (p.Thr631=) c.1936A= (p.Thr646=) n.2271A= c.1933A= (p.Thr645=) c.1858A= (p.Thr620=) c.1855A= (p.Thr619=) c.1843A= (p.Thr615=) | |
11 | g.22270349A>C | CA379923299 | ANO5 | c.1486A>C (p.Thr496Pro) c.1894A>C (p.Thr632Pro) n.2930A>C c.1891A>C (p.Thr631Pro) c.1936A>C (p.Thr646Pro) n.2271A>C c.1933A>C (p.Thr645Pro) c.1858A>C (p.Thr620Pro) c.1855A>C (p.Thr619Pro) c.1843A>C (p.Thr615Pro) | |
11 | g.22270349A>G | CA379923300 | ANO5 | c.1486A>G (p.Thr496Ala) c.1894A>G (p.Thr632Ala) n.2930A>G c.1891A>G (p.Thr631Ala) c.1936A>G (p.Thr646Ala) n.2271A>G c.1933A>G (p.Thr645Ala) c.1858A>G (p.Thr620Ala) c.1855A>G (p.Thr619Ala) c.1843A>G (p.Thr615Ala) | ClinVar dbSNP |
11 | g.22270349A>T | CA379923301 | ANO5 | c.1486A>T (p.Thr496Ser) c.1894A>T (p.Thr632Ser) n.2930A>T c.1891A>T (p.Thr631Ser) c.1936A>T (p.Thr646Ser) n.2271A>T c.1933A>T (p.Thr645Ser) c.1858A>T (p.Thr620Ser) c.1855A>T (p.Thr619Ser) c.1843A>T (p.Thr615Ser) | |
11 | g.22270350C>A | CA379923302 | ANO5 | c.1487C>A (p.Thr496Lys) c.1895C>A (p.Thr632Lys) n.2931C>A c.1892C>A (p.Thr631Lys) c.1937C>A (p.Thr646Lys) n.2272C>A c.1934C>A (p.Thr645Lys) c.1859C>A (p.Thr620Lys) c.1856C>A (p.Thr619Lys) c.1844C>A (p.Thr615Lys) | COSMIC |
11 | g.22270350C>G | CA379923303 | ANO5 | c.1487C>G (p.Thr496Arg) c.1895C>G (p.Thr632Arg) n.2931C>G c.1892C>G (p.Thr631Arg) c.1937C>G (p.Thr646Arg) n.2272C>G c.1934C>G (p.Thr645Arg) c.1859C>G (p.Thr620Arg) c.1856C>G (p.Thr619Arg) c.1844C>G (p.Thr615Arg) | gnomAD v4 |
11 | g.22270350C>T | CA379923304 | ANO5 | c.1487C>T (p.Thr496Ile) c.1895C>T (p.Thr632Ile) n.2931C>T c.1892C>T (p.Thr631Ile) c.1937C>T (p.Thr646Ile) n.2272C>T c.1934C>T (p.Thr645Ile) c.1859C>T (p.Thr620Ile) c.1856C>T (p.Thr619Ile) c.1844C>T (p.Thr615Ile) | |
11 | g.22270351A>C | CA473407409 | ANO5 | c.1488A>C (p.Thr496=) c.1896A>C (p.Thr632=) n.2932A>C c.1893A>C (p.Thr631=) c.1938A>C (p.Thr646=) n.2273A>C c.1935A>C (p.Thr645=) c.1860A>C (p.Thr620=) c.1857A>C (p.Thr619=) c.1845A>C (p.Thr615=) | |
11 | g.22270351A>G | CA473407410 | ANO5 | c.1488A>G (p.Thr496=) c.1896A>G (p.Thr632=) n.2932A>G c.1893A>G (p.Thr631=) c.1938A>G (p.Thr646=) n.2273A>G c.1935A>G (p.Thr645=) c.1860A>G (p.Thr620=) c.1857A>G (p.Thr619=) c.1845A>G (p.Thr615=) | |
11 | g.22270351A>T | CA473407411 | ANO5 | c.1488A>T (p.Thr496=) c.1896A>T (p.Thr632=) n.2932A>T c.1893A>T (p.Thr631=) c.1938A>T (p.Thr646=) n.2273A>T c.1935A>T (p.Thr645=) c.1860A>T (p.Thr620=) c.1857A>T (p.Thr619=) c.1845A>T (p.Thr615=) | |
11 | g.22270352A>C | CA379923307 | ANO5 | c.1489A>C (p.Asn497His) c.1897A>C (p.Asn633His) n.2933A>C c.1894A>C (p.Asn632His) c.1939A>C (p.Asn647His) n.2274A>C c.1936A>C (p.Asn646His) c.1861A>C (p.Asn621His) c.1858A>C (p.Asn620His) c.1846A>C (p.Asn616His) | |
11 | g.22270352A>G | CA379923305 | ANO5 | c.1489A>G (p.Asn497Asp) c.1897A>G (p.Asn633Asp) n.2933A>G c.1894A>G (p.Asn632Asp) c.1939A>G (p.Asn647Asp) n.2274A>G c.1936A>G (p.Asn646Asp) c.1861A>G (p.Asn621Asp) c.1858A>G (p.Asn620Asp) c.1846A>G (p.Asn616Asp) | |
11 | g.22270352A>T | CA379923306 | ANO5 | c.1489A>T (p.Asn497Tyr) c.1897A>T (p.Asn633Tyr) n.2933A>T c.1894A>T (p.Asn632Tyr) c.1939A>T (p.Asn647Tyr) n.2274A>T c.1936A>T (p.Asn646Tyr) c.1861A>T (p.Asn621Tyr) c.1858A>T (p.Asn620Tyr) c.1846A>T (p.Asn616Tyr) | |
11 | g.22270353A>C | CA379923308 | ANO5 | c.1490A>C (p.Asn497Thr) c.1898A>C (p.Asn633Thr) n.2934A>C c.1895A>C (p.Asn632Thr) c.1940A>C (p.Asn647Thr) n.2275A>C c.1937A>C (p.Asn646Thr) c.1862A>C (p.Asn621Thr) c.1859A>C (p.Asn620Thr) c.1847A>C (p.Asn616Thr) | |
11 | g.22270353A>G | CA379923309 | ANO5 | c.1490A>G (p.Asn497Ser) c.1898A>G (p.Asn633Ser) n.2934A>G c.1895A>G (p.Asn632Ser) c.1940A>G (p.Asn647Ser) n.2275A>G c.1937A>G (p.Asn646Ser) c.1862A>G (p.Asn621Ser) c.1859A>G (p.Asn620Ser) c.1847A>G (p.Asn616Ser) | |
11 | g.22270353A>T | CA379923310 | ANO5 | c.1490A>T (p.Asn497Ile) c.1898A>T (p.Asn633Ile) n.2934A>T c.1895A>T (p.Asn632Ile) c.1940A>T (p.Asn647Ile) n.2275A>T c.1937A>T (p.Asn646Ile) c.1862A>T (p.Asn621Ile) c.1859A>T (p.Asn620Ile) c.1847A>T (p.Asn616Ile) | |
11 | g.22270354C>A | CA379923311 | ANO5 | c.1491C>A (p.Asn497Lys) c.1899C>A (p.Asn633Lys) n.2935C>A c.1896C>A (p.Asn632Lys) c.1941C>A (p.Asn647Lys) n.2276C>A c.1938C>A (p.Asn646Lys) c.1863C>A (p.Asn621Lys) c.1860C>A (p.Asn620Lys) c.1848C>A (p.Asn616Lys) | |
11 | g.22270354C= | CA1957424076 | ANO5 | c.1491C= (p.Asn497=) c.1899C= (p.Asn633=) n.2935C= c.1896C= (p.Asn632=) c.1941C= (p.Asn647=) n.2276C= c.1938C= (p.Asn646=) c.1863C= (p.Asn621=) c.1860C= (p.Asn620=) c.1848C= (p.Asn616=) | |
11 | g.22270354C>G | CA379923312 | ANO5 | c.1491C>G (p.Asn497Lys) c.1899C>G (p.Asn633Lys) n.2935C>G c.1896C>G (p.Asn632Lys) c.1941C>G (p.Asn647Lys) n.2276C>G c.1938C>G (p.Asn646Lys) c.1863C>G (p.Asn621Lys) c.1860C>G (p.Asn620Lys) c.1848C>G (p.Asn616Lys) | |
11 | g.22270354C>T | CA218774164 | ANO5 | c.1491C>T (p.Asn497=) c.1899C>T (p.Asn633=) n.2935C>T c.1896C>T (p.Asn632=) c.1941C>T (p.Asn647=) n.2276C>T c.1938C>T (p.Asn646=) c.1863C>T (p.Asn621=) c.1860C>T (p.Asn620=) c.1848C>T (p.Asn616=) | dbSNP gnomAD v4 |
11 | g.22270356_22270357del | CA2612836910 | ANO5 | c.1493_1494del (p.Ser498Ter) c.1901_1902del (p.Ser634Ter) n.2937_2938del c.1898_1899del (p.Ser633Ter) c.1943_1944del (p.Ser648Ter) n.2278_2279del c.1940_1941del (p.Ser647Ter) c.1865_1866del (p.Ser622Ter) c.1862_1863del (p.Ser621Ter) c.1850_1851del (p.Ser617Ter) | gnomAD v4 |
11 | g.22270355T>A | CA379923313 | ANO5 | c.1492T>A (p.Ser498Thr) c.1900T>A (p.Ser634Thr) n.2936T>A c.1897T>A (p.Ser633Thr) c.1942T>A (p.Ser648Thr) n.2277T>A c.1939T>A (p.Ser647Thr) c.1864T>A (p.Ser622Thr) c.1861T>A (p.Ser621Thr) c.1849T>A (p.Ser617Thr) | |
11 | g.22270355T>C | CA379923314 | ANO5 | c.1492T>C (p.Ser498Pro) c.1900T>C (p.Ser634Pro) n.2936T>C c.1897T>C (p.Ser633Pro) c.1942T>C (p.Ser648Pro) n.2277T>C c.1939T>C (p.Ser647Pro) c.1864T>C (p.Ser622Pro) c.1861T>C (p.Ser621Pro) c.1849T>C (p.Ser617Pro) | |
11 | g.22270355T>G | CA379923315 | ANO5 | c.1492T>G (p.Ser498Ala) c.1900T>G (p.Ser634Ala) n.2936T>G c.1897T>G (p.Ser633Ala) c.1942T>G (p.Ser648Ala) n.2277T>G c.1939T>G (p.Ser647Ala) c.1864T>G (p.Ser622Ala) c.1861T>G (p.Ser621Ala) c.1849T>G (p.Ser617Ala) | |
11 | g.22270356C>A | CA379923316 | ANO5 | c.1493C>A (p.Ser498Tyr) c.1901C>A (p.Ser634Tyr) n.2937C>A c.1898C>A (p.Ser633Tyr) c.1943C>A (p.Ser648Tyr) n.2278C>A c.1940C>A (p.Ser647Tyr) c.1865C>A (p.Ser622Tyr) c.1862C>A (p.Ser621Tyr) c.1850C>A (p.Ser617Tyr) | |
11 | g.22270356C= | CA1957398903 | ANO5 | c.1493C= (p.Ser498=) c.1901C= (p.Ser634=) n.2937C= c.1898C= (p.Ser633=) c.1943C= (p.Ser648=) n.2278C= c.1940C= (p.Ser647=) c.1865C= (p.Ser622=) c.1862C= (p.Ser621=) c.1850C= (p.Ser617=) | |
11 | g.22270356C>G | CA218774172 | ANO5 | c.1493C>G (p.Ser498Cys) c.1901C>G (p.Ser634Cys) n.2937C>G c.1898C>G (p.Ser633Cys) c.1943C>G (p.Ser648Cys) n.2278C>G c.1940C>G (p.Ser647Cys) c.1865C>G (p.Ser622Cys) c.1862C>G (p.Ser621Cys) c.1850C>G (p.Ser617Cys) | dbSNP |
11 | g.22270356C>T | CA379923317 | ANO5 | c.1493C>T (p.Ser498Phe) c.1901C>T (p.Ser634Phe) n.2937C>T c.1898C>T (p.Ser633Phe) c.1943C>T (p.Ser648Phe) n.2278C>T c.1940C>T (p.Ser647Phe) c.1865C>T (p.Ser622Phe) c.1862C>T (p.Ser621Phe) c.1850C>T (p.Ser617Phe) | gnomAD v4 |
11 | g.22270356_22270358delinsCTG | CA1957398906 | ANO5 | c.1493_1495delinsCTG (p.Ser498=) c.1901_1903delinsCTG (p.Ser634=) n.2937_2939delinsCTG c.1898_1900delinsCTG (p.Ser633=) c.1943_1945delinsCTG (p.Ser648=) n.2278_2280delinsCTG c.1940_1942delinsCTG (p.Ser647=) c.1865_1867delinsCTG (p.Ser622=) c.1862_1864delinsCTG (p.Ser621=) c.1850_1852delinsCTG (p.Ser617=) | |
11 | g.22270357T>A | CA473407412 | ANO5 | c.1494T>A (p.Ser498=) c.1902T>A (p.Ser634=) n.2938T>A c.1899T>A (p.Ser633=) c.1944T>A (p.Ser648=) n.2279T>A c.1941T>A (p.Ser647=) c.1866T>A (p.Ser622=) c.1863T>A (p.Ser621=) c.1851T>A (p.Ser617=) | |
11 | g.22270357T>C | CA473407413 | ANO5 | c.1494T>C (p.Ser498=) c.1902T>C (p.Ser634=) n.2938T>C c.1899T>C (p.Ser633=) c.1944T>C (p.Ser648=) n.2279T>C c.1941T>C (p.Ser647=) c.1866T>C (p.Ser622=) c.1863T>C (p.Ser621=) c.1851T>C (p.Ser617=) | ClinVar dbSNP gnomAD v4 |
11 | g.22270357T>G | CA473407414 | ANO5 | c.1494T>G (p.Ser498=) c.1902T>G (p.Ser634=) n.2938T>G c.1899T>G (p.Ser633=) c.1944T>G (p.Ser648=) n.2279T>G c.1941T>G (p.Ser647=) c.1866T>G (p.Ser622=) c.1863T>G (p.Ser621=) c.1851T>G (p.Ser617=) | |
11 | g.22270357T= | CA1957398919 | ANO5 | c.1494T= (p.Ser498=) c.1902T= (p.Ser634=) n.2938T= c.1899T= (p.Ser633=) c.1944T= (p.Ser648=) n.2279T= c.1941T= (p.Ser647=) c.1866T= (p.Ser622=) c.1863T= (p.Ser621=) c.1851T= (p.Ser617=) | |
11 | g.22270357_22270358del | CA597913006 | ANO5 | c.1494_1495del (p.Lys500AlafsTer3) c.1902_1903del (p.Lys636AlafsTer3) n.2938_2939del c.1899_1900del (p.Lys635AlafsTer3) c.1944_1945del (p.Lys650AlafsTer3) n.2279_2280del c.1941_1942del (p.Lys649AlafsTer3) c.1866_1867del (p.Lys624AlafsTer3) c.1863_1864del (p.Lys623AlafsTer3) c.1851_1852del (p.Lys619AlafsTer3) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22270358G>A | CA379923318 | ANO5 | c.1495G>A (p.Glu499Lys) c.1903G>A (p.Glu635Lys) n.2939G>A c.1900G>A (p.Glu634Lys) c.1945G>A (p.Glu649Lys) n.2280G>A c.1942G>A (p.Glu648Lys) c.1867G>A (p.Glu623Lys) c.1864G>A (p.Glu622Lys) c.1852G>A (p.Glu618Lys) | |
11 | g.22270358G>C | CA379923320 | ANO5 | c.1495G>C (p.Glu499Gln) c.1903G>C (p.Glu635Gln) n.2939G>C c.1900G>C (p.Glu634Gln) c.1945G>C (p.Glu649Gln) n.2280G>C c.1942G>C (p.Glu648Gln) c.1867G>C (p.Glu623Gln) c.1864G>C (p.Glu622Gln) c.1852G>C (p.Glu618Gln) | dbSNP |
11 | g.22270358G= | CA1957398923 | ANO5 | c.1495G= (p.Glu499=) c.1903G= (p.Glu635=) n.2939G= c.1900G= (p.Glu634=) c.1945G= (p.Glu649=) n.2280G= c.1942G= (p.Glu648=) c.1867G= (p.Glu623=) c.1864G= (p.Glu622=) c.1852G= (p.Glu618=) | |
11 | g.22270358G>T | CA379923319 | ANO5 | c.1495G>T (p.Glu499Ter) c.1903G>T (p.Glu635Ter) n.2939G>T c.1900G>T (p.Glu634Ter) c.1945G>T (p.Glu649Ter) n.2280G>T c.1942G>T (p.Glu648Ter) c.1867G>T (p.Glu623Ter) c.1864G>T (p.Glu622Ter) c.1852G>T (p.Glu618Ter) | COSMIC |
11 | g.22270359A>C | CA379923321 | ANO5 | c.1496A>C (p.Glu499Ala) c.1904A>C (p.Glu635Ala) n.2940A>C c.1901A>C (p.Glu634Ala) c.1946A>C (p.Glu649Ala) n.2281A>C c.1943A>C (p.Glu648Ala) c.1868A>C (p.Glu623Ala) c.1865A>C (p.Glu622Ala) c.1853A>C (p.Glu618Ala) | |
11 | g.22270359A>G | CA379923322 | ANO5 | c.1496A>G (p.Glu499Gly) c.1904A>G (p.Glu635Gly) n.2940A>G c.1901A>G (p.Glu634Gly) c.1946A>G (p.Glu649Gly) n.2281A>G c.1943A>G (p.Glu648Gly) c.1868A>G (p.Glu623Gly) c.1865A>G (p.Glu622Gly) c.1853A>G (p.Glu618Gly) | |
11 | g.22270359A>T | CA379923323 | ANO5 | c.1496A>T (p.Glu499Val) c.1904A>T (p.Glu635Val) n.2940A>T c.1901A>T (p.Glu634Val) c.1946A>T (p.Glu649Val) n.2281A>T c.1943A>T (p.Glu648Val) c.1868A>T (p.Glu623Val) c.1865A>T (p.Glu622Val) c.1853A>T (p.Glu618Val) | |
11 | g.22270360G>A | CA473407415 | ANO5 | c.1497G>A (p.Glu499=) c.1905G>A (p.Glu635=) n.2941G>A c.1902G>A (p.Glu634=) c.1947G>A (p.Glu649=) n.2282G>A c.1944G>A (p.Glu648=) c.1869G>A (p.Glu623=) c.1866G>A (p.Glu622=) c.1854G>A (p.Glu618=) | |
11 | g.22270360G>C | CA379923324 | ANO5 | c.1497G>C (p.Glu499Asp) c.1905G>C (p.Glu635Asp) n.2941G>C c.1902G>C (p.Glu634Asp) c.1947G>C (p.Glu649Asp) n.2282G>C c.1944G>C (p.Glu648Asp) c.1869G>C (p.Glu623Asp) c.1866G>C (p.Glu622Asp) c.1854G>C (p.Glu618Asp) | |
11 | g.22270360G>T | CA379923325 | ANO5 | c.1497G>T (p.Glu499Asp) c.1905G>T (p.Glu635Asp) n.2941G>T c.1902G>T (p.Glu634Asp) c.1947G>T (p.Glu649Asp) n.2282G>T c.1944G>T (p.Glu648Asp) c.1869G>T (p.Glu623Asp) c.1866G>T (p.Glu622Asp) c.1854G>T (p.Glu618Asp) | |
11 | g.22270361A>C | CA379923326 | ANO5 | c.1498A>C (p.Lys500Gln) c.1906A>C (p.Lys636Gln) n.2942A>C c.1903A>C (p.Lys635Gln) c.1948A>C (p.Lys650Gln) n.2283A>C c.1945A>C (p.Lys649Gln) c.1870A>C (p.Lys624Gln) c.1867A>C (p.Lys623Gln) c.1855A>C (p.Lys619Gln) | |
11 | g.22270361A>G | CA379923327 | ANO5 | c.1498A>G (p.Lys500Glu) c.1906A>G (p.Lys636Glu) n.2942A>G c.1903A>G (p.Lys635Glu) c.1948A>G (p.Lys650Glu) n.2283A>G c.1945A>G (p.Lys649Glu) c.1870A>G (p.Lys624Glu) c.1867A>G (p.Lys623Glu) c.1855A>G (p.Lys619Glu) | |
11 | g.22270361A>T | CA379923328 | ANO5 | c.1498A>T (p.Lys500Ter) c.1906A>T (p.Lys636Ter) n.2942A>T c.1903A>T (p.Lys635Ter) c.1948A>T (p.Lys650Ter) n.2283A>T c.1945A>T (p.Lys649Ter) c.1870A>T (p.Lys624Ter) c.1867A>T (p.Lys623Ter) c.1855A>T (p.Lys619Ter) | |
11 | g.22270362A>C | CA379923329 | ANO5 | c.1499A>C (p.Lys500Thr) c.1907A>C (p.Lys636Thr) n.2943A>C c.1904A>C (p.Lys635Thr) c.1949A>C (p.Lys650Thr) n.2284A>C c.1946A>C (p.Lys649Thr) c.1871A>C (p.Lys624Thr) c.1868A>C (p.Lys623Thr) c.1856A>C (p.Lys619Thr) | |
11 | g.22270362A>G | CA379923330 | ANO5 | c.1499A>G (p.Lys500Arg) c.1907A>G (p.Lys636Arg) n.2943A>G c.1904A>G (p.Lys635Arg) c.1949A>G (p.Lys650Arg) n.2284A>G c.1946A>G (p.Lys649Arg) c.1871A>G (p.Lys624Arg) c.1868A>G (p.Lys623Arg) c.1856A>G (p.Lys619Arg) | gnomAD v4 |
11 | g.22270362A>T | CA379923331 | ANO5 | c.1499A>T (p.Lys500Met) c.1907A>T (p.Lys636Met) n.2943A>T c.1904A>T (p.Lys635Met) c.1949A>T (p.Lys650Met) n.2284A>T c.1946A>T (p.Lys649Met) c.1871A>T (p.Lys624Met) c.1868A>T (p.Lys623Met) c.1856A>T (p.Lys619Met) | |
11 | g.22270363G>A | CA473407416 | ANO5 | c.1500G>A (p.Lys500=) c.1908G>A (p.Lys636=) n.2944G>A c.1905G>A (p.Lys635=) c.1950G>A (p.Lys650=) n.2285G>A c.1947G>A (p.Lys649=) c.1872G>A (p.Lys624=) c.1869G>A (p.Lys623=) c.1857G>A (p.Lys619=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.22270363G>C | CA379923332 | ANO5 | c.1500G>C (p.Lys500Asn) c.1908G>C (p.Lys636Asn) n.2944G>C c.1905G>C (p.Lys635Asn) c.1950G>C (p.Lys650Asn) n.2285G>C c.1947G>C (p.Lys649Asn) c.1872G>C (p.Lys624Asn) c.1869G>C (p.Lys623Asn) c.1857G>C (p.Lys619Asn) | |
11 | g.22270363G= | CA1957398926 | ANO5 | c.1500G= (p.Lys500=) c.1908G= (p.Lys636=) n.2944G= c.1905G= (p.Lys635=) c.1950G= (p.Lys650=) n.2285G= c.1947G= (p.Lys649=) c.1872G= (p.Lys624=) c.1869G= (p.Lys623=) c.1857G= (p.Lys619=) | |
11 | g.22270363G>T | CA379923333 | ANO5 | c.1500G>T (p.Lys500Asn) c.1908G>T (p.Lys636Asn) n.2944G>T c.1905G>T (p.Lys635Asn) c.1950G>T (p.Lys650Asn) n.2285G>T c.1947G>T (p.Lys649Asn) c.1872G>T (p.Lys624Asn) c.1869G>T (p.Lys623Asn) c.1857G>T (p.Lys619Asn) | |
11 | g.22270364C>A | CA379923334 | ANO5 | c.1501C>A (p.Leu501Met) c.1909C>A (p.Leu637Met) n.2945C>A c.1906C>A (p.Leu636Met) c.1951C>A (p.Leu651Met) n.2286C>A c.1948C>A (p.Leu650Met) c.1873C>A (p.Leu625Met) c.1870C>A (p.Leu624Met) c.1858C>A (p.Leu620Met) | |
11 | g.22270364C= | CA1957398929 | ANO5 | c.1501C= (p.Leu501=) c.1909C= (p.Leu637=) n.2945C= c.1906C= (p.Leu636=) c.1951C= (p.Leu651=) n.2286C= c.1948C= (p.Leu650=) c.1873C= (p.Leu625=) c.1870C= (p.Leu624=) c.1858C= (p.Leu620=) | |
11 | g.22270364C>G | CA379923335 | ANO5 | c.1501C>G (p.Leu501Val) c.1909C>G (p.Leu637Val) n.2945C>G c.1906C>G (p.Leu636Val) c.1951C>G (p.Leu651Val) n.2286C>G c.1948C>G (p.Leu650Val) c.1873C>G (p.Leu625Val) c.1870C>G (p.Leu624Val) c.1858C>G (p.Leu620Val) | |
11 | g.22270364C>T | CA473407418 | ANO5 | c.1501C>T (p.Leu501=) c.1909C>T (p.Leu637=) n.2945C>T c.1906C>T (p.Leu636=) c.1951C>T (p.Leu651=) n.2286C>T c.1948C>T (p.Leu650=) c.1873C>T (p.Leu625=) c.1870C>T (p.Leu624=) c.1858C>T (p.Leu620=) | dbSNP |
11 | g.22270365T>A | CA379923336 | ANO5 | c.1502T>A (p.Leu501Gln) c.1910T>A (p.Leu637Gln) n.2946T>A c.1907T>A (p.Leu636Gln) c.1952T>A (p.Leu651Gln) n.2287T>A c.1949T>A (p.Leu650Gln) c.1874T>A (p.Leu625Gln) c.1871T>A (p.Leu624Gln) c.1859T>A (p.Leu620Gln) | |
11 | g.22270365T>C | CA379923337 | ANO5 | c.1502T>C (p.Leu501Pro) c.1910T>C (p.Leu637Pro) n.2946T>C c.1907T>C (p.Leu636Pro) c.1952T>C (p.Leu651Pro) n.2287T>C c.1949T>C (p.Leu650Pro) c.1874T>C (p.Leu625Pro) c.1871T>C (p.Leu624Pro) c.1859T>C (p.Leu620Pro) | ClinVar dbSNP gnomAD v4 |
11 | g.22270365T>G | CA379923338 | ANO5 | c.1502T>G (p.Leu501Arg) c.1910T>G (p.Leu637Arg) n.2946T>G c.1907T>G (p.Leu636Arg) c.1952T>G (p.Leu651Arg) n.2287T>G c.1949T>G (p.Leu650Arg) c.1874T>G (p.Leu625Arg) c.1871T>G (p.Leu624Arg) c.1859T>G (p.Leu620Arg) | |
11 | g.22270365T= | CA1957398934 | ANO5 | c.1502T= (p.Leu501=) c.1910T= (p.Leu637=) n.2946T= c.1907T= (p.Leu636=) c.1952T= (p.Leu651=) n.2287T= c.1949T= (p.Leu650=) c.1874T= (p.Leu625=) c.1871T= (p.Leu624=) c.1859T= (p.Leu620=) | |
11 | g.22270366G>A | CA473407420 | ANO5 | c.1503G>A (p.Leu501=) c.1911G>A (p.Leu637=) n.2947G>A c.1908G>A (p.Leu636=) c.1953G>A (p.Leu651=) n.2288G>A c.1950G>A (p.Leu650=) c.1875G>A (p.Leu625=) c.1872G>A (p.Leu624=) c.1860G>A (p.Leu620=) | |
11 | g.22270366G>C | CA473407421 | ANO5 | c.1503G>C (p.Leu501=) c.1911G>C (p.Leu637=) n.2947G>C c.1908G>C (p.Leu636=) c.1953G>C (p.Leu651=) n.2288G>C c.1950G>C (p.Leu650=) c.1875G>C (p.Leu625=) c.1872G>C (p.Leu624=) c.1860G>C (p.Leu620=) | |
11 | g.22270366G>T | CA473407419 | ANO5 | c.1503G>T (p.Leu501=) c.1911G>T (p.Leu637=) n.2947G>T c.1908G>T (p.Leu636=) c.1953G>T (p.Leu651=) n.2288G>T c.1950G>T (p.Leu650=) c.1875G>T (p.Leu625=) c.1872G>T (p.Leu624=) c.1860G>T (p.Leu620=) | gnomAD v4 |
11 | g.22270367T>A | CA379923339 | ANO5 | c.1504T>A (p.Tyr502Asn) c.1912T>A (p.Tyr638Asn) n.2948T>A c.1909T>A (p.Tyr637Asn) c.1954T>A (p.Tyr652Asn) n.2289T>A c.1951T>A (p.Tyr651Asn) c.1876T>A (p.Tyr626Asn) c.1873T>A (p.Tyr625Asn) c.1861T>A (p.Tyr621Asn) | |
11 | g.22270367T>C | CA379923340 | ANO5 | c.1504T>C (p.Tyr502His) c.1912T>C (p.Tyr638His) n.2948T>C c.1909T>C (p.Tyr637His) c.1954T>C (p.Tyr652His) n.2289T>C c.1951T>C (p.Tyr651His) c.1876T>C (p.Tyr626His) c.1873T>C (p.Tyr625His) c.1861T>C (p.Tyr621His) | |
11 | g.22270367T>G | CA379923341 | ANO5 | c.1504T>G (p.Tyr502Asp) c.1912T>G (p.Tyr638Asp) n.2948T>G c.1909T>G (p.Tyr637Asp) c.1954T>G (p.Tyr652Asp) n.2289T>G c.1951T>G (p.Tyr651Asp) c.1876T>G (p.Tyr626Asp) c.1873T>G (p.Tyr625Asp) c.1861T>G (p.Tyr621Asp) | |
11 | g.22270368A= | CA1957398942 | ANO5 | c.1505A= (p.Tyr502=) c.1913A= (p.Tyr638=) n.2949A= c.1910A= (p.Tyr637=) c.1955A= (p.Tyr652=) n.2290A= c.1952A= (p.Tyr651=) c.1877A= (p.Tyr626=) c.1874A= (p.Tyr625=) c.1862A= (p.Tyr621=) | |
11 | g.22270368A>C | CA379923342 | ANO5 | c.1505A>C (p.Tyr502Ser) c.1913A>C (p.Tyr638Ser) n.2949A>C c.1910A>C (p.Tyr637Ser) c.1955A>C (p.Tyr652Ser) n.2290A>C c.1952A>C (p.Tyr651Ser) c.1877A>C (p.Tyr626Ser) c.1874A>C (p.Tyr625Ser) c.1862A>C (p.Tyr621Ser) | |
11 | g.22270368A>G | CA218774174 | ANO5 | c.1505A>G (p.Tyr502Cys) c.1913A>G (p.Tyr638Cys) n.2949A>G c.1910A>G (p.Tyr637Cys) c.1955A>G (p.Tyr652Cys) n.2290A>G c.1952A>G (p.Tyr651Cys) c.1877A>G (p.Tyr626Cys) c.1874A>G (p.Tyr625Cys) c.1862A>G (p.Tyr621Cys) | ClinVar dbSNP gnomAD v4 COSMIC |
11 | g.22270368A>T | CA379923343 | ANO5 | c.1505A>T (p.Tyr502Phe) c.1913A>T (p.Tyr638Phe) n.2949A>T c.1910A>T (p.Tyr637Phe) c.1955A>T (p.Tyr652Phe) n.2290A>T c.1952A>T (p.Tyr651Phe) c.1877A>T (p.Tyr626Phe) c.1874A>T (p.Tyr625Phe) c.1862A>T (p.Tyr621Phe) | |
11 | g.22270369T>A | CA379923344 | ANO5 | c.1506T>A (p.Tyr502Ter) c.1914T>A (p.Tyr638Ter) n.2950T>A c.1911T>A (p.Tyr637Ter) c.1956T>A (p.Tyr652Ter) n.2291T>A c.1953T>A (p.Tyr651Ter) c.1878T>A (p.Tyr626Ter) c.1875T>A (p.Tyr625Ter) c.1863T>A (p.Tyr621Ter) | |
11 | g.22270369T>C | CA473407422 | ANO5 | c.1506T>C (p.Tyr502=) c.1914T>C (p.Tyr638=) n.2950T>C c.1911T>C (p.Tyr637=) c.1956T>C (p.Tyr652=) n.2291T>C c.1953T>C (p.Tyr651=) c.1878T>C (p.Tyr626=) c.1875T>C (p.Tyr625=) c.1863T>C (p.Tyr621=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.22270369T>G | CA379923345 | ANO5 | c.1506T>G (p.Tyr502Ter) c.1914T>G (p.Tyr638Ter) n.2950T>G c.1911T>G (p.Tyr637Ter) c.1956T>G (p.Tyr652Ter) n.2291T>G c.1953T>G (p.Tyr651Ter) c.1878T>G (p.Tyr626Ter) c.1875T>G (p.Tyr625Ter) c.1863T>G (p.Tyr621Ter) | |
11 | g.22270369T= | CA1957398945 | ANO5 | c.1506T= (p.Tyr502=) c.1914T= (p.Tyr638=) n.2950T= c.1911T= (p.Tyr637=) c.1956T= (p.Tyr652=) n.2291T= c.1953T= (p.Tyr651=) c.1878T= (p.Tyr626=) c.1875T= (p.Tyr625=) c.1863T= (p.Tyr621=) | |
11 | g.22270370A= | CA1957398952 | ANO5 | c.1507A= (p.Ser503=) c.1915A= (p.Ser639=) n.2951A= c.1912A= (p.Ser638=) c.1957A= (p.Ser653=) n.2292A= c.1954A= (p.Ser652=) c.1879A= (p.Ser627=) c.1876A= (p.Ser626=) c.1864A= (p.Ser622=) | |
11 | g.22270370A>C | CA379923347 | ANO5 | c.1507A>C (p.Ser503Arg) c.1915A>C (p.Ser639Arg) n.2951A>C c.1912A>C (p.Ser638Arg) c.1957A>C (p.Ser653Arg) n.2292A>C c.1954A>C (p.Ser652Arg) c.1879A>C (p.Ser627Arg) c.1876A>C (p.Ser626Arg) c.1864A>C (p.Ser622Arg) | |
11 | g.22270370A>G | CA5923413 | ANO5 | c.1507A>G (p.Ser503Gly) c.1915A>G (p.Ser639Gly) n.2951A>G c.1912A>G (p.Ser638Gly) c.1957A>G (p.Ser653Gly) n.2292A>G c.1954A>G (p.Ser652Gly) c.1879A>G (p.Ser627Gly) c.1876A>G (p.Ser626Gly) c.1864A>G (p.Ser622Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22270370A>T | CA379923346 | ANO5 | c.1507A>T (p.Ser503Cys) c.1915A>T (p.Ser639Cys) n.2951A>T c.1912A>T (p.Ser638Cys) c.1957A>T (p.Ser653Cys) n.2292A>T c.1954A>T (p.Ser652Cys) c.1879A>T (p.Ser627Cys) c.1876A>T (p.Ser626Cys) c.1864A>T (p.Ser622Cys) | |
11 | g.22270371G>A | CA379923349 | ANO5 | c.1508G>A (p.Ser503Asn) c.1916G>A (p.Ser639Asn) n.2952G>A c.1913G>A (p.Ser638Asn) c.1958G>A (p.Ser653Asn) n.2293G>A c.1955G>A (p.Ser652Asn) c.1880G>A (p.Ser627Asn) c.1877G>A (p.Ser626Asn) c.1865G>A (p.Ser622Asn) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.22270371G>C | CA379923348 | ANO5 | c.1508G>C (p.Ser503Thr) c.1916G>C (p.Ser639Thr) n.2952G>C c.1913G>C (p.Ser638Thr) c.1958G>C (p.Ser653Thr) n.2293G>C c.1955G>C (p.Ser652Thr) c.1880G>C (p.Ser627Thr) c.1877G>C (p.Ser626Thr) c.1865G>C (p.Ser622Thr) | |
11 | g.22270371G= | CA1957398960 | ANO5 | c.1508G= (p.Ser503=) c.1916G= (p.Ser639=) n.2952G= c.1913G= (p.Ser638=) c.1958G= (p.Ser653=) n.2293G= c.1955G= (p.Ser652=) c.1880G= (p.Ser627=) c.1877G= (p.Ser626=) c.1865G= (p.Ser622=) | |
11 | g.22270371G>T | CA379923350 | ANO5 | c.1508G>T (p.Ser503Ile) c.1916G>T (p.Ser639Ile) n.2952G>T c.1913G>T (p.Ser638Ile) c.1958G>T (p.Ser653Ile) n.2293G>T c.1955G>T (p.Ser652Ile) c.1880G>T (p.Ser627Ile) c.1877G>T (p.Ser626Ile) c.1865G>T (p.Ser622Ile) | COSMIC |
11 | g.22270372T>A | CA379923351 | ANO5 | c.1509T>A (p.Ser503Arg) c.1917T>A (p.Ser639Arg) n.2953T>A c.1914T>A (p.Ser638Arg) c.1959T>A (p.Ser653Arg) n.2294T>A c.1956T>A (p.Ser652Arg) c.1881T>A (p.Ser627Arg) c.1878T>A (p.Ser626Arg) c.1866T>A (p.Ser622Arg) | |
11 | g.22270372T>C | CA473407423 | ANO5 | c.1509T>C (p.Ser503=) c.1917T>C (p.Ser639=) n.2953T>C c.1914T>C (p.Ser638=) c.1959T>C (p.Ser653=) n.2294T>C c.1956T>C (p.Ser652=) c.1881T>C (p.Ser627=) c.1878T>C (p.Ser626=) c.1866T>C (p.Ser622=) | |
11 | g.22270372T>G | CA379923352 | ANO5 | c.1509T>G (p.Ser503Arg) c.1917T>G (p.Ser639Arg) n.2953T>G c.1914T>G (p.Ser638Arg) c.1959T>G (p.Ser653Arg) n.2294T>G c.1956T>G (p.Ser652Arg) c.1881T>G (p.Ser627Arg) c.1878T>G (p.Ser626Arg) c.1866T>G (p.Ser622Arg) | ClinVar |
11 | g.22270373C>A | CA473407424 | ANO5 | c.1510C>A (p.Arg504=) c.1918C>A (p.Arg640=) n.2954C>A c.1915C>A (p.Arg639=) c.1960C>A (p.Arg654=) n.2295C>A c.1957C>A (p.Arg653=) c.1882C>A (p.Arg628=) c.1879C>A (p.Arg627=) c.1867C>A (p.Arg623=) | |
11 | g.22270373C= | CA1957398965 | ANO5 | c.1510C= (p.Arg504=) c.1918C= (p.Arg640=) n.2954C= c.1915C= (p.Arg639=) c.1960C= (p.Arg654=) n.2295C= c.1957C= (p.Arg653=) c.1882C= (p.Arg628=) c.1879C= (p.Arg627=) c.1867C= (p.Arg623=) | |
11 | g.22270373C>G | CA379923353 | ANO5 | c.1510C>G (p.Arg504Gly) c.1918C>G (p.Arg640Gly) n.2954C>G c.1915C>G (p.Arg639Gly) c.1960C>G (p.Arg654Gly) n.2295C>G c.1957C>G (p.Arg653Gly) c.1882C>G (p.Arg628Gly) c.1879C>G (p.Arg627Gly) c.1867C>G (p.Arg623Gly) | |
11 | g.22270373C>T | CA379923354 | ANO5 | c.1510C>T (p.Arg504Ter) c.1918C>T (p.Arg640Ter) n.2954C>T c.1915C>T (p.Arg639Ter) c.1960C>T (p.Arg654Ter) n.2295C>T c.1957C>T (p.Arg653Ter) c.1882C>T (p.Arg628Ter) c.1879C>T (p.Arg627Ter) c.1867C>T (p.Arg623Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.22270374G>A | CA5923414 | ANO5 | c.1511G>A (p.Arg504Gln) c.1919G>A (p.Arg640Gln) n.2955G>A c.1916G>A (p.Arg639Gln) c.1961G>A (p.Arg654Gln) n.2296G>A c.1958G>A (p.Arg653Gln) c.1883G>A (p.Arg628Gln) c.1880G>A (p.Arg627Gln) c.1868G>A (p.Arg623Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22270374G>C | CA379923355 | ANO5 | c.1511G>C (p.Arg504Pro) c.1919G>C (p.Arg640Pro) n.2955G>C c.1916G>C (p.Arg639Pro) c.1961G>C (p.Arg654Pro) n.2296G>C c.1958G>C (p.Arg653Pro) c.1883G>C (p.Arg628Pro) c.1880G>C (p.Arg627Pro) c.1868G>C (p.Arg623Pro) | |
11 | g.22270374G= | CA1957398970 | ANO5 | c.1511G= (p.Arg504=) c.1919G= (p.Arg640=) n.2955G= c.1916G= (p.Arg639=) c.1961G= (p.Arg654=) n.2296G= c.1958G= (p.Arg653=) c.1883G= (p.Arg628=) c.1880G= (p.Arg627=) c.1868G= (p.Arg623=) | |
11 | g.22270374G>T | CA379923356 | ANO5 | c.1511G>T (p.Arg504Leu) c.1919G>T (p.Arg640Leu) n.2955G>T c.1916G>T (p.Arg639Leu) c.1961G>T (p.Arg654Leu) n.2296G>T c.1958G>T (p.Arg653Leu) c.1883G>T (p.Arg628Leu) c.1880G>T (p.Arg627Leu) c.1868G>T (p.Arg623Leu) | ClinVar dbSNP |
11 | g.22270375A= | CA1957398976 | ANO5 | c.1512A= (p.Arg504=) c.1920A= (p.Arg640=) n.2956A= c.1917A= (p.Arg639=) c.1962A= (p.Arg654=) n.2297A= c.1959A= (p.Arg653=) c.1884A= (p.Arg628=) c.1881A= (p.Arg627=) c.1869A= (p.Arg623=) | |
11 | g.22270375A>C | CA473407425 | ANO5 | c.1512A>C (p.Arg504=) c.1920A>C (p.Arg640=) n.2956A>C c.1917A>C (p.Arg639=) c.1962A>C (p.Arg654=) n.2297A>C c.1959A>C (p.Arg653=) c.1884A>C (p.Arg628=) c.1881A>C (p.Arg627=) c.1869A>C (p.Arg623=) | |
11 | g.22270375A>G | CA16605884 | ANO5 | c.1512A>G (p.Arg504=) c.1920A>G (p.Arg640=) n.2956A>G c.1917A>G (p.Arg639=) c.1962A>G (p.Arg654=) n.2297A>G c.1959A>G (p.Arg653=) c.1884A>G (p.Arg628=) c.1881A>G (p.Arg627=) c.1869A>G (p.Arg623=) | ClinVar dbSNP |
11 | g.22270375A>T | CA473407426 | ANO5 | c.1512A>T (p.Arg504=) c.1920A>T (p.Arg640=) n.2956A>T c.1917A>T (p.Arg639=) c.1962A>T (p.Arg654=) n.2297A>T c.1959A>T (p.Arg653=) c.1884A>T (p.Arg628=) c.1881A>T (p.Arg627=) c.1869A>T (p.Arg623=) | |
11 | g.22270376T>A | CA379923357 | ANO5 | c.1513T>A (p.Trp505Arg) c.1921T>A (p.Trp641Arg) n.2957T>A c.1918T>A (p.Trp640Arg) c.1963T>A (p.Trp655Arg) n.2298T>A c.1960T>A (p.Trp654Arg) c.1885T>A (p.Trp629Arg) c.1882T>A (p.Trp628Arg) c.1870T>A (p.Trp624Arg) | gnomAD v4 |
11 | g.22270376T>C | CA218774184 | ANO5 | c.1513T>C (p.Trp505Arg) c.1921T>C (p.Trp641Arg) n.2957T>C c.1918T>C (p.Trp640Arg) c.1963T>C (p.Trp655Arg) n.2298T>C c.1960T>C (p.Trp654Arg) c.1885T>C (p.Trp629Arg) c.1882T>C (p.Trp628Arg) c.1870T>C (p.Trp624Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22270376T>G | CA379923358 | ANO5 | c.1513T>G (p.Trp505Gly) c.1921T>G (p.Trp641Gly) n.2957T>G c.1918T>G (p.Trp640Gly) c.1963T>G (p.Trp655Gly) n.2298T>G c.1960T>G (p.Trp654Gly) c.1885T>G (p.Trp629Gly) c.1882T>G (p.Trp628Gly) c.1870T>G (p.Trp624Gly) | |
11 | g.22270376T= | CA1957398983 | ANO5 | c.1513T= (p.Trp505=) c.1921T= (p.Trp641=) n.2957T= c.1918T= (p.Trp640=) c.1963T= (p.Trp655=) n.2298T= c.1960T= (p.Trp654=) c.1885T= (p.Trp629=) c.1882T= (p.Trp628=) c.1870T= (p.Trp624=) | |
11 | g.22270377G>A | CA379923359 | ANO5 | c.1514G>A (p.Trp505Ter) c.1922G>A (p.Trp641Ter) n.2958G>A c.1919G>A (p.Trp640Ter) c.1964G>A (p.Trp655Ter) n.2299G>A c.1961G>A (p.Trp654Ter) c.1886G>A (p.Trp629Ter) c.1883G>A (p.Trp628Ter) c.1871G>A (p.Trp624Ter) | ClinVar |
11 | g.22270377G>C | CA379923360 | ANO5 | c.1514G>C (p.Trp505Ser) c.1922G>C (p.Trp641Ser) n.2958G>C c.1919G>C (p.Trp640Ser) c.1964G>C (p.Trp655Ser) n.2299G>C c.1961G>C (p.Trp654Ser) c.1886G>C (p.Trp629Ser) c.1883G>C (p.Trp628Ser) c.1871G>C (p.Trp624Ser) | |
11 | g.22270377G>T | CA379923361 | ANO5 | c.1514G>T (p.Trp505Leu) c.1922G>T (p.Trp641Leu) n.2958G>T c.1919G>T (p.Trp640Leu) c.1964G>T (p.Trp655Leu) n.2299G>T c.1961G>T (p.Trp654Leu) c.1886G>T (p.Trp629Leu) c.1883G>T (p.Trp628Leu) c.1871G>T (p.Trp624Leu) | |
11 | g.22270378G>A | CA379923362 | ANO5 | c.1515G>A (p.Trp505Ter) c.1923G>A (p.Trp641Ter) n.2959G>A c.1920G>A (p.Trp640Ter) c.1965G>A (p.Trp655Ter) n.2300G>A c.1962G>A (p.Trp654Ter) c.1887G>A (p.Trp629Ter) c.1884G>A (p.Trp628Ter) c.1872G>A (p.Trp624Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.22270378G>C | CA5923415 | ANO5 | c.1515G>C (p.Trp505Cys) c.1923G>C (p.Trp641Cys) n.2959G>C c.1920G>C (p.Trp640Cys) c.1965G>C (p.Trp655Cys) n.2300G>C c.1962G>C (p.Trp654Cys) c.1887G>C (p.Trp629Cys) c.1884G>C (p.Trp628Cys) c.1872G>C (p.Trp624Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22270378G= | CA1957398985 | ANO5 | c.1515G= (p.Trp505=) c.1923G= (p.Trp641=) n.2959G= c.1920G= (p.Trp640=) c.1965G= (p.Trp655=) n.2300G= c.1962G= (p.Trp654=) c.1887G= (p.Trp629=) c.1884G= (p.Trp628=) c.1872G= (p.Trp624=) | |
11 | g.22270378G>T | CA379923363 | ANO5 | c.1515G>T (p.Trp505Cys) c.1923G>T (p.Trp641Cys) n.2959G>T c.1920G>T (p.Trp640Cys) c.1965G>T (p.Trp655Cys) n.2300G>T c.1962G>T (p.Trp654Cys) c.1887G>T (p.Trp629Cys) c.1884G>T (p.Trp628Cys) c.1872G>T (p.Trp624Cys) | |
11 | g.22270379G>A | CA379923364 | ANO5 | c.1516G>A (p.Glu506Lys) c.1924G>A (p.Glu642Lys) n.2960G>A c.1921G>A (p.Glu641Lys) c.1966G>A (p.Glu656Lys) n.2301G>A c.1963G>A (p.Glu655Lys) c.1888G>A (p.Glu630Lys) c.1885G>A (p.Glu629Lys) c.1873G>A (p.Glu625Lys) | COSMIC |
11 | g.22270379G>C | CA10606004 | ANO5 | c.1516G>C (p.Glu506Gln) c.1924G>C (p.Glu642Gln) n.2960G>C c.1921G>C (p.Glu641Gln) c.1966G>C (p.Glu656Gln) n.2301G>C c.1963G>C (p.Glu655Gln) c.1888G>C (p.Glu630Gln) c.1885G>C (p.Glu629Gln) c.1873G>C (p.Glu625Gln) | ClinVar dbSNP gnomAD v4 |
11 | g.22270379G= | CA1957398989 | ANO5 | c.1516G= (p.Glu506=) c.1924G= (p.Glu642=) n.2960G= c.1921G= (p.Glu641=) c.1966G= (p.Glu656=) n.2301G= c.1963G= (p.Glu655=) c.1888G= (p.Glu630=) c.1885G= (p.Glu629=) c.1873G= (p.Glu625=) | |
11 | g.22270379G>T | CA379923365 | ANO5 | c.1516G>T (p.Glu506Ter) c.1924G>T (p.Glu642Ter) n.2960G>T c.1921G>T (p.Glu641Ter) c.1966G>T (p.Glu656Ter) n.2301G>T c.1963G>T (p.Glu655Ter) c.1888G>T (p.Glu630Ter) c.1885G>T (p.Glu629Ter) c.1873G>T (p.Glu625Ter) | |
11 | g.22270380A>C | CA379923366 | ANO5 | c.1517A>C (p.Glu506Ala) c.1925A>C (p.Glu642Ala) n.2961A>C c.1922A>C (p.Glu641Ala) c.1967A>C (p.Glu656Ala) n.2302A>C c.1964A>C (p.Glu655Ala) c.1889A>C (p.Glu630Ala) c.1886A>C (p.Glu629Ala) c.1874A>C (p.Glu625Ala) | |
11 | g.22270380A>G | CA379923367 | ANO5 | c.1517A>G (p.Glu506Gly) c.1925A>G (p.Glu642Gly) n.2961A>G c.1922A>G (p.Glu641Gly) c.1967A>G (p.Glu656Gly) n.2302A>G c.1964A>G (p.Glu655Gly) c.1889A>G (p.Glu630Gly) c.1886A>G (p.Glu629Gly) c.1874A>G (p.Glu625Gly) | |
11 | g.22270380A>T | CA379923368 | ANO5 | c.1517A>T (p.Glu506Val) c.1925A>T (p.Glu642Val) n.2961A>T c.1922A>T (p.Glu641Val) c.1967A>T (p.Glu656Val) n.2302A>T c.1964A>T (p.Glu655Val) c.1889A>T (p.Glu630Val) c.1886A>T (p.Glu629Val) c.1874A>T (p.Glu625Val) | |
11 | g.22270381G>A | CA473407427 | ANO5 | c.1518G>A (p.Glu506=) c.1926G>A (p.Glu642=) n.2962G>A c.1923G>A (p.Glu641=) c.1968G>A (p.Glu656=) n.2303G>A c.1965G>A (p.Glu655=) c.1890G>A (p.Glu630=) c.1887G>A (p.Glu629=) c.1875G>A (p.Glu625=) | gnomAD v4 |
11 | g.22270381G>C | CA379923369 | ANO5 | c.1518G>C (p.Glu506Asp) c.1926G>C (p.Glu642Asp) n.2962G>C c.1923G>C (p.Glu641Asp) c.1968G>C (p.Glu656Asp) n.2303G>C c.1965G>C (p.Glu655Asp) c.1890G>C (p.Glu630Asp) c.1887G>C (p.Glu629Asp) c.1875G>C (p.Glu625Asp) | |
11 | g.22270381G>T | CA379923370 | ANO5 | c.1518G>T (p.Glu506Asp) c.1926G>T (p.Glu642Asp) n.2962G>T c.1923G>T (p.Glu641Asp) c.1968G>T (p.Glu656Asp) n.2303G>T c.1965G>T (p.Glu655Asp) c.1890G>T (p.Glu630Asp) c.1887G>T (p.Glu629Asp) c.1875G>T (p.Glu625Asp) | |
11 | g.22270382C>A | CA379923371 | ANO5 | c.1519C>A (p.Gln507Lys) c.1927C>A (p.Gln643Lys) n.2963C>A c.1924C>A (p.Gln642Lys) c.1969C>A (p.Gln657Lys) n.2304C>A c.1966C>A (p.Gln656Lys) c.1891C>A (p.Gln631Lys) c.1888C>A (p.Gln630Lys) c.1876C>A (p.Gln626Lys) | |
11 | g.22270382C>G | CA379923372 | ANO5 | c.1519C>G (p.Gln507Glu) c.1927C>G (p.Gln643Glu) n.2963C>G c.1924C>G (p.Gln642Glu) c.1969C>G (p.Gln657Glu) n.2304C>G c.1966C>G (p.Gln656Glu) c.1891C>G (p.Gln631Glu) c.1888C>G (p.Gln630Glu) c.1876C>G (p.Gln626Glu) | |
11 | g.22270382C>T | CA379923373 | ANO5 | c.1519C>T (p.Gln507Ter) c.1927C>T (p.Gln643Ter) n.2963C>T c.1924C>T (p.Gln642Ter) c.1969C>T (p.Gln657Ter) n.2304C>T c.1966C>T (p.Gln656Ter) c.1891C>T (p.Gln631Ter) c.1888C>T (p.Gln630Ter) c.1876C>T (p.Gln626Ter) | gnomAD v4 |
11 | g.22270383A= | CA1957398991 | ANO5 | c.1520A= (p.Gln507=) c.1928A= (p.Gln643=) n.2964A= c.1925A= (p.Gln642=) c.1970A= (p.Gln657=) n.2305A= c.1967A= (p.Gln656=) c.1892A= (p.Gln631=) c.1889A= (p.Gln630=) c.1877A= (p.Gln626=) | |
11 | g.22270383A>C | CA379923376 | ANO5 | c.1520A>C (p.Gln507Pro) c.1928A>C (p.Gln643Pro) n.2964A>C c.1925A>C (p.Gln642Pro) c.1970A>C (p.Gln657Pro) n.2305A>C c.1967A>C (p.Gln656Pro) c.1892A>C (p.Gln631Pro) c.1889A>C (p.Gln630Pro) c.1877A>C (p.Gln626Pro) | |
11 | g.22270383A>G | CA379923375 | ANO5 | c.1520A>G (p.Gln507Arg) c.1928A>G (p.Gln643Arg) n.2964A>G c.1925A>G (p.Gln642Arg) c.1970A>G (p.Gln657Arg) n.2305A>G c.1967A>G (p.Gln656Arg) c.1892A>G (p.Gln631Arg) c.1889A>G (p.Gln630Arg) c.1877A>G (p.Gln626Arg) | |
11 | g.22270383A>T | CA379923374 | ANO5 | c.1520A>T (p.Gln507Leu) c.1928A>T (p.Gln643Leu) n.2964A>T c.1925A>T (p.Gln642Leu) c.1970A>T (p.Gln657Leu) n.2305A>T c.1967A>T (p.Gln656Leu) c.1892A>T (p.Gln631Leu) c.1889A>T (p.Gln630Leu) c.1877A>T (p.Gln626Leu) | ClinVar dbSNP gnomAD v4 |
11 | g.22270384G>A | CA473407428 | ANO5 | c.1521G>A (p.Gln507=) c.1929G>A (p.Gln643=) n.2965G>A c.1926G>A (p.Gln642=) c.1971G>A (p.Gln657=) n.2306G>A c.1968G>A (p.Gln656=) c.1893G>A (p.Gln631=) c.1890G>A (p.Gln630=) c.1878G>A (p.Gln626=) | dbSNP |
11 | g.22270384G>C | CA379923378 | ANO5 | c.1521G>C (p.Gln507His) c.1929G>C (p.Gln643His) n.2965G>C c.1926G>C (p.Gln642His) c.1971G>C (p.Gln657His) n.2306G>C c.1968G>C (p.Gln656His) c.1893G>C (p.Gln631His) c.1890G>C (p.Gln630His) c.1878G>C (p.Gln626His) | |
11 | g.22270384G>T | CA379923377 | ANO5 | c.1521G>T (p.Gln507His) c.1929G>T (p.Gln643His) n.2965G>T c.1926G>T (p.Gln642His) c.1971G>T (p.Gln657His) n.2306G>T c.1968G>T (p.Gln656His) c.1893G>T (p.Gln631His) c.1890G>T (p.Gln630His) c.1878G>T (p.Gln626His) | |
11 | g.22270385G>A | CA379923379 | ANO5 | c.1522G>A (p.Asp508Asn) c.1930G>A (p.Asp644Asn) n.2966G>A c.1927G>A (p.Asp643Asn) c.1972G>A (p.Asp658Asn) n.2307G>A c.1969G>A (p.Asp657Asn) c.1894G>A (p.Asp632Asn) c.1891G>A (p.Asp631Asn) c.1879G>A (p.Asp627Asn) | ClinVar dbSNP |
11 | g.22270385G>C | CA379923380 | ANO5 | c.1522G>C (p.Asp508His) c.1930G>C (p.Asp644His) n.2966G>C c.1927G>C (p.Asp643His) c.1972G>C (p.Asp658His) n.2307G>C c.1969G>C (p.Asp657His) c.1894G>C (p.Asp632His) c.1891G>C (p.Asp631His) c.1879G>C (p.Asp627His) | |
11 | g.22270385G= | CA1957398994 | ANO5 | c.1522G= (p.Asp508=) c.1930G= (p.Asp644=) n.2966G= c.1927G= (p.Asp643=) c.1972G= (p.Asp658=) n.2307G= c.1969G= (p.Asp657=) c.1894G= (p.Asp632=) c.1891G= (p.Asp631=) c.1879G= (p.Asp627=) | |
11 | g.22270385G>T | CA379923381 | ANO5 | c.1522G>T (p.Asp508Tyr) c.1930G>T (p.Asp644Tyr) n.2966G>T c.1927G>T (p.Asp643Tyr) c.1972G>T (p.Asp658Tyr) n.2307G>T c.1969G>T (p.Asp657Tyr) c.1894G>T (p.Asp632Tyr) c.1891G>T (p.Asp631Tyr) c.1879G>T (p.Asp627Tyr) | |
11 | g.22270386A>C | CA379923382 | ANO5 | c.1523A>C (p.Asp508Ala) c.1931A>C (p.Asp644Ala) n.2967A>C c.1928A>C (p.Asp643Ala) c.1973A>C (p.Asp658Ala) n.2308A>C c.1970A>C (p.Asp657Ala) c.1895A>C (p.Asp632Ala) c.1892A>C (p.Asp631Ala) c.1880A>C (p.Asp627Ala) | |
11 | g.22270386A>G | CA379923383 | ANO5 | c.1523A>G (p.Asp508Gly) c.1931A>G (p.Asp644Gly) n.2967A>G c.1928A>G (p.Asp643Gly) c.1973A>G (p.Asp658Gly) n.2308A>G c.1970A>G (p.Asp657Gly) c.1895A>G (p.Asp632Gly) c.1892A>G (p.Asp631Gly) c.1880A>G (p.Asp627Gly) | |
11 | g.22270386A>T | CA379923384 | ANO5 | c.1523A>T (p.Asp508Val) c.1931A>T (p.Asp644Val) n.2967A>T c.1928A>T (p.Asp643Val) c.1973A>T (p.Asp658Val) n.2308A>T c.1970A>T (p.Asp657Val) c.1895A>T (p.Asp632Val) c.1892A>T (p.Asp631Val) c.1880A>T (p.Asp627Val) | |
11 | g.22270387T>A | CA379923385 | ANO5 | c.1524T>A (p.Asp508Glu) c.1932T>A (p.Asp644Glu) n.2968T>A c.1929T>A (p.Asp643Glu) c.1974T>A (p.Asp658Glu) n.2309T>A c.1971T>A (p.Asp657Glu) c.1896T>A (p.Asp632Glu) c.1893T>A (p.Asp631Glu) c.1881T>A (p.Asp627Glu) | gnomAD v4 |
11 | g.22270387T>C | CA473407429 | ANO5 | c.1524T>C (p.Asp508=) c.1932T>C (p.Asp644=) n.2968T>C c.1929T>C (p.Asp643=) c.1974T>C (p.Asp658=) n.2309T>C c.1971T>C (p.Asp657=) c.1896T>C (p.Asp632=) c.1893T>C (p.Asp631=) c.1881T>C (p.Asp627=) | gnomAD v4 |
11 | g.22270387T>G | CA379923386 | ANO5 | c.1524T>G (p.Asp508Glu) c.1932T>G (p.Asp644Glu) n.2968T>G c.1929T>G (p.Asp643Glu) c.1974T>G (p.Asp658Glu) n.2309T>G c.1971T>G (p.Asp657Glu) c.1896T>G (p.Asp632Glu) c.1893T>G (p.Asp631Glu) c.1881T>G (p.Asp627Glu) | |
11 | g.22270388C>A | CA379923387 | ANO5 | c.1525C>A (p.His509Asn) c.1933C>A (p.His645Asn) n.2969C>A c.1930C>A (p.His644Asn) c.1975C>A (p.His659Asn) n.2310C>A c.1972C>A (p.His658Asn) c.1897C>A (p.His633Asn) c.1894C>A (p.His632Asn) c.1882C>A (p.His628Asn) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.22270388C= | CA1957398997 | ANO5 | c.1525C= (p.His509=) c.1933C= (p.His645=) n.2969C= c.1930C= (p.His644=) c.1975C= (p.His659=) n.2310C= c.1972C= (p.His658=) c.1897C= (p.His633=) c.1894C= (p.His632=) c.1882C= (p.His628=) | |
11 | g.22270388C>G | CA379923388 | ANO5 | c.1525C>G (p.His509Asp) c.1933C>G (p.His645Asp) n.2969C>G c.1930C>G (p.His644Asp) c.1975C>G (p.His659Asp) n.2310C>G c.1972C>G (p.His658Asp) c.1897C>G (p.His633Asp) c.1894C>G (p.His632Asp) c.1882C>G (p.His628Asp) | ClinVar dbSNP |
11 | g.22270388C>T | CA379923389 | ANO5 | c.1525C>T (p.His509Tyr) c.1933C>T (p.His645Tyr) n.2969C>T c.1930C>T (p.His644Tyr) c.1975C>T (p.His659Tyr) n.2310C>T c.1972C>T (p.His658Tyr) c.1897C>T (p.His633Tyr) c.1894C>T (p.His632Tyr) c.1882C>T (p.His628Tyr) | |
11 | g.22270388dup | CA2612836944 | ANO5 | c.1525dup (p.His509ProfsTer2) c.1933dup (p.His645ProfsTer2) n.2969dup c.1930dup (p.His644ProfsTer2) c.1975dup (p.His659ProfsTer2) n.2310dup c.1972dup (p.His658ProfsTer2) c.1897dup (p.His633ProfsTer2) c.1894dup (p.His632ProfsTer2) c.1882dup (p.His628ProfsTer2) | gnomAD v4 |
11 | g.22270389A>C | CA379923391 | ANO5 | c.1526A>C (p.His509Pro) c.1934A>C (p.His645Pro) n.2970A>C c.1931A>C (p.His644Pro) c.1976A>C (p.His659Pro) n.2311A>C c.1973A>C (p.His658Pro) c.1898A>C (p.His633Pro) c.1895A>C (p.His632Pro) c.1883A>C (p.His628Pro) | |
11 | g.22270389A>G | CA379923392 | ANO5 | c.1526A>G (p.His509Arg) c.1934A>G (p.His645Arg) n.2970A>G c.1931A>G (p.His644Arg) c.1976A>G (p.His659Arg) n.2311A>G c.1973A>G (p.His658Arg) c.1898A>G (p.His633Arg) c.1895A>G (p.His632Arg) c.1883A>G (p.His628Arg) | |
11 | g.22270389A>T | CA379923390 | ANO5 | c.1526A>T (p.His509Leu) c.1934A>T (p.His645Leu) n.2970A>T c.1931A>T (p.His644Leu) c.1976A>T (p.His659Leu) n.2311A>T c.1973A>T (p.His658Leu) c.1898A>T (p.His633Leu) c.1895A>T (p.His632Leu) c.1883A>T (p.His628Leu) | |
11 | g.22270390T>A | CA379923393 | ANO5 | c.1527T>A (p.His509Gln) c.1935T>A (p.His645Gln) n.2971T>A c.1932T>A (p.His644Gln) c.1977T>A (p.His659Gln) n.2312T>A c.1974T>A (p.His658Gln) c.1899T>A (p.His633Gln) c.1896T>A (p.His632Gln) c.1884T>A (p.His628Gln) | |
11 | g.22270390T>C | CA5923416 | ANO5 | c.1527T>C (p.His509=) c.1935T>C (p.His645=) n.2971T>C c.1932T>C (p.His644=) c.1977T>C (p.His659=) n.2312T>C c.1974T>C (p.His658=) c.1899T>C (p.His633=) c.1896T>C (p.His632=) c.1884T>C (p.His628=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.22270390T>G | CA379923394 | ANO5 | c.1527T>G (p.His509Gln) c.1935T>G (p.His645Gln) n.2971T>G c.1932T>G (p.His644Gln) c.1977T>G (p.His659Gln) n.2312T>G c.1974T>G (p.His658Gln) c.1899T>G (p.His633Gln) c.1896T>G (p.His632Gln) c.1884T>G (p.His628Gln) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.22270390T= | CA1957399002 | ANO5 | c.1527T= (p.His509=) c.1935T= (p.His645=) n.2971T= c.1932T= (p.His644=) c.1977T= (p.His659=) n.2312T= c.1974T= (p.His658=) c.1899T= (p.His633=) c.1896T= (p.His632=) c.1884T= (p.His628=) | |
11 | g.22270391G>A | CA379923395 | ANO5 | c.1528G>A (p.Asp510Asn) c.1936G>A (p.Asp646Asn) n.2972G>A c.1933G>A (p.Asp645Asn) c.1978G>A (p.Asp660Asn) n.2313G>A c.1975G>A (p.Asp659Asn) c.1900G>A (p.Asp634Asn) c.1897G>A (p.Asp633Asn) c.1885G>A (p.Asp629Asn) | COSMIC |
11 | g.22270391G>C | CA379923396 | ANO5 | c.1528G>C (p.Asp510His) c.1936G>C (p.Asp646His) n.2972G>C c.1933G>C (p.Asp645His) c.1978G>C (p.Asp660His) n.2313G>C c.1975G>C (p.Asp659His) c.1900G>C (p.Asp634His) c.1897G>C (p.Asp633His) c.1885G>C (p.Asp629His) | |
11 | g.22270391G>T | CA379923397 | ANO5 | c.1528G>T (p.Asp510Tyr) c.1936G>T (p.Asp646Tyr) n.2972G>T c.1933G>T (p.Asp645Tyr) c.1978G>T (p.Asp660Tyr) n.2313G>T c.1975G>T (p.Asp659Tyr) c.1900G>T (p.Asp634Tyr) c.1897G>T (p.Asp633Tyr) c.1885G>T (p.Asp629Tyr) | COSMIC |
11 | g.22270392A= | CA1957399007 | ANO5 | c.1529A= (p.Asp510=) c.1937A= (p.Asp646=) n.2973A= c.1934A= (p.Asp645=) c.1979A= (p.Asp660=) n.2314A= c.1976A= (p.Asp659=) c.1901A= (p.Asp634=) c.1898A= (p.Asp633=) c.1886A= (p.Asp629=) | |
11 | g.22270392A>C | CA379923398 | ANO5 | c.1529A>C (p.Asp510Ala) c.1937A>C (p.Asp646Ala) n.2973A>C c.1934A>C (p.Asp645Ala) c.1979A>C (p.Asp660Ala) n.2314A>C c.1976A>C (p.Asp659Ala) c.1901A>C (p.Asp634Ala) c.1898A>C (p.Asp633Ala) c.1886A>C (p.Asp629Ala) | |
11 | g.22270392A>G | CA379923400 | ANO5 | c.1529A>G (p.Asp510Gly) c.1937A>G (p.Asp646Gly) n.2973A>G c.1934A>G (p.Asp645Gly) c.1979A>G (p.Asp660Gly) n.2314A>G c.1976A>G (p.Asp659Gly) c.1901A>G (p.Asp634Gly) c.1898A>G (p.Asp633Gly) c.1886A>G (p.Asp629Gly) | |
11 | g.22270392A>T | CA379923399 | ANO5 | c.1529A>T (p.Asp510Val) c.1937A>T (p.Asp646Val) n.2973A>T c.1934A>T (p.Asp645Val) c.1979A>T (p.Asp660Val) n.2314A>T c.1976A>T (p.Asp659Val) c.1901A>T (p.Asp634Val) c.1898A>T (p.Asp633Val) c.1886A>T (p.Asp629Val) | dbSNP |
11 | g.22270393C>A | CA379923401 | ANO5 | c.1530C>A (p.Asp510Glu) c.1938C>A (p.Asp646Glu) n.2974C>A c.1935C>A (p.Asp645Glu) c.1980C>A (p.Asp660Glu) n.2315C>A c.1977C>A (p.Asp659Glu) c.1902C>A (p.Asp634Glu) c.1899C>A (p.Asp633Glu) c.1887C>A (p.Asp629Glu) | gnomAD v4 |
11 | g.22270393C= | CA1957399008 | ANO5 | c.1530C= (p.Asp510=) c.1938C= (p.Asp646=) n.2974C= c.1935C= (p.Asp645=) c.1980C= (p.Asp660=) n.2315C= c.1977C= (p.Asp659=) c.1902C= (p.Asp634=) c.1899C= (p.Asp633=) c.1887C= (p.Asp629=) | |
11 | g.22270393C>G | CA379923402 | ANO5 | c.1530C>G (p.Asp510Glu) c.1938C>G (p.Asp646Glu) n.2974C>G c.1935C>G (p.Asp645Glu) c.1980C>G (p.Asp660Glu) n.2315C>G c.1977C>G (p.Asp659Glu) c.1902C>G (p.Asp634Glu) c.1899C>G (p.Asp633Glu) c.1887C>G (p.Asp629Glu) | |
11 | g.22270393C>T | CA473407430 | ANO5 | c.1530C>T (p.Asp510=) c.1938C>T (p.Asp646=) n.2974C>T c.1935C>T (p.Asp645=) c.1980C>T (p.Asp660=) n.2315C>T c.1977C>T (p.Asp659=) c.1902C>T (p.Asp634=) c.1899C>T (p.Asp633=) c.1887C>T (p.Asp629=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.22270394C>A | CA379923403 | ANO5 | c.1531C>A (p.Leu511Ile) c.1939C>A (p.Leu647Ile) n.2975C>A c.1936C>A (p.Leu646Ile) c.1981C>A (p.Leu661Ile) n.2316C>A c.1978C>A (p.Leu660Ile) c.1903C>A (p.Leu635Ile) c.1900C>A (p.Leu634Ile) c.1888C>A (p.Leu630Ile) | |
11 | g.22270394C= | CA1957399018 | ANO5 | c.1531C= (p.Leu511=) c.1939C= (p.Leu647=) n.2975C= c.1936C= (p.Leu646=) c.1981C= (p.Leu661=) n.2316C= c.1978C= (p.Leu660=) c.1903C= (p.Leu635=) c.1900C= (p.Leu634=) c.1888C= (p.Leu630=) | |
11 | g.22270394C>G | CA379923404 | ANO5 | c.1531C>G (p.Leu511Val) c.1939C>G (p.Leu647Val) n.2975C>G c.1936C>G (p.Leu646Val) c.1981C>G (p.Leu661Val) n.2316C>G c.1978C>G (p.Leu660Val) c.1903C>G (p.Leu635Val) c.1900C>G (p.Leu634Val) c.1888C>G (p.Leu630Val) | |
11 | g.22270394C>T | CA218774194 | ANO5 | c.1531C>T (p.Leu511Phe) c.1939C>T (p.Leu647Phe) n.2975C>T c.1936C>T (p.Leu646Phe) c.1981C>T (p.Leu661Phe) n.2316C>T c.1978C>T (p.Leu660Phe) c.1903C>T (p.Leu635Phe) c.1900C>T (p.Leu634Phe) c.1888C>T (p.Leu630Phe) | ClinVar dbSNP gnomAD v4 |
11 | g.22270395T>A | CA379923406 | ANO5 | c.1532T>A (p.Leu511His) c.1940T>A (p.Leu647His) n.2976T>A c.1937T>A (p.Leu646His) c.1982T>A (p.Leu661His) n.2317T>A c.1979T>A (p.Leu660His) c.1904T>A (p.Leu635His) c.1901T>A (p.Leu634His) c.1889T>A (p.Leu630His) | |
11 | g.22270395T>C | CA379923407 | ANO5 | c.1532T>C (p.Leu511Pro) c.1940T>C (p.Leu647Pro) n.2976T>C c.1937T>C (p.Leu646Pro) c.1982T>C (p.Leu661Pro) n.2317T>C c.1979T>C (p.Leu660Pro) c.1904T>C (p.Leu635Pro) c.1901T>C (p.Leu634Pro) c.1889T>C (p.Leu630Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22270395T>G | CA379923405 | ANO5 | c.1532T>G (p.Leu511Arg) c.1940T>G (p.Leu647Arg) n.2976T>G c.1937T>G (p.Leu646Arg) c.1982T>G (p.Leu661Arg) n.2317T>G c.1979T>G (p.Leu660Arg) c.1904T>G (p.Leu635Arg) c.1901T>G (p.Leu634Arg) c.1889T>G (p.Leu630Arg) | |
11 | g.22270395T= | CA1957399023 | ANO5 | c.1532T= (p.Leu511=) c.1940T= (p.Leu647=) n.2976T= c.1937T= (p.Leu646=) c.1982T= (p.Leu661=) n.2317T= c.1979T= (p.Leu660=) c.1904T= (p.Leu635=) c.1901T= (p.Leu634=) c.1889T= (p.Leu630=) | |
11 | g.22270396del | CA2612836956 | ANO5 | c.1533del (p.Glu512LysfsTer13) c.1941del (p.Glu648LysfsTer13) n.2977del c.1938del (p.Glu647LysfsTer13) c.1983del (p.Glu662LysfsTer13) n.2318del c.1980del (p.Glu661LysfsTer13) c.1905del (p.Glu636LysfsTer13) c.1902del (p.Glu635LysfsTer13) c.1890del (p.Glu631LysfsTer13) | gnomAD v4 |
11 | g.22270396T>A | CA218774196 | ANO5 | c.1533T>A (p.Leu511=) c.1941T>A (p.Leu647=) n.2977T>A c.1938T>A (p.Leu646=) c.1983T>A (p.Leu661=) n.2318T>A c.1980T>A (p.Leu660=) c.1905T>A (p.Leu635=) c.1902T>A (p.Leu634=) c.1890T>A (p.Leu630=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22270396T>C | CA473407431 | ANO5 | c.1533T>C (p.Leu511=) c.1941T>C (p.Leu647=) n.2977T>C c.1938T>C (p.Leu646=) c.1983T>C (p.Leu661=) n.2318T>C c.1980T>C (p.Leu660=) c.1905T>C (p.Leu635=) c.1902T>C (p.Leu634=) c.1890T>C (p.Leu630=) | |
11 | g.22270396T>G | CA473407432 | ANO5 | c.1533T>G (p.Leu511=) c.1941T>G (p.Leu647=) n.2977T>G c.1938T>G (p.Leu646=) c.1983T>G (p.Leu661=) n.2318T>G c.1980T>G (p.Leu660=) c.1905T>G (p.Leu635=) c.1902T>G (p.Leu634=) c.1890T>G (p.Leu630=) | |
11 | g.22270396T= | CA1957399027 | ANO5 | c.1533T= (p.Leu511=) c.1941T= (p.Leu647=) n.2977T= c.1938T= (p.Leu646=) c.1983T= (p.Leu661=) n.2318T= c.1980T= (p.Leu660=) c.1905T= (p.Leu635=) c.1902T= (p.Leu634=) c.1890T= (p.Leu630=) | |
11 | g.22270397G>A | CA379923408 | ANO5 | n.1G>A c.1534G>A (p.Glu512Lys) c.1942G>A (p.Glu648Lys) n.2978G>A c.1939G>A (p.Glu647Lys) c.1984G>A (p.Glu662Lys) n.2319G>A c.1981G>A (p.Glu661Lys) c.1906G>A (p.Glu636Lys) c.1903G>A (p.Glu635Lys) c.1891G>A (p.Glu631Lys) | gnomAD v4 |
11 | g.22270397G>C | CA379923409 | ANO5 | n.1G>C c.1534G>C (p.Glu512Gln) c.1942G>C (p.Glu648Gln) n.2978G>C c.1939G>C (p.Glu647Gln) c.1984G>C (p.Glu662Gln) n.2319G>C c.1981G>C (p.Glu661Gln) c.1906G>C (p.Glu636Gln) c.1903G>C (p.Glu635Gln) c.1891G>C (p.Glu631Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22270397G= | CA1957399031 | ANO5 | n.1G= c.1534G= (p.Glu512=) c.1942G= (p.Glu648=) n.2978G= c.1939G= (p.Glu647=) c.1984G= (p.Glu662=) n.2319G= c.1981G= (p.Glu661=) c.1906G= (p.Glu636=) c.1903G= (p.Glu635=) c.1891G= (p.Glu631=) | |
11 | g.22270397G>T | CA379923410 | ANO5 | n.1G>T c.1534G>T (p.Glu512Ter) c.1942G>T (p.Glu648Ter) n.2978G>T c.1939G>T (p.Glu647Ter) c.1984G>T (p.Glu662Ter) n.2319G>T c.1981G>T (p.Glu661Ter) c.1906G>T (p.Glu636Ter) c.1903G>T (p.Glu635Ter) c.1891G>T (p.Glu631Ter) | |
11 | g.22270398A>C | CA379923411 | ANO5 | n.2A>C c.1535A>C (p.Glu512Ala) c.1943A>C (p.Glu648Ala) n.2979A>C c.1940A>C (p.Glu647Ala) c.1985A>C (p.Glu662Ala) n.2320A>C c.1982A>C (p.Glu661Ala) c.1907A>C (p.Glu636Ala) c.1904A>C (p.Glu635Ala) c.1892A>C (p.Glu631Ala) | |
11 | g.22270398A>G | CA379923412 | ANO5 | n.2A>G c.1535A>G (p.Glu512Gly) c.1943A>G (p.Glu648Gly) n.2979A>G c.1940A>G (p.Glu647Gly) c.1985A>G (p.Glu662Gly) n.2320A>G c.1982A>G (p.Glu661Gly) c.1907A>G (p.Glu636Gly) c.1904A>G (p.Glu635Gly) c.1892A>G (p.Glu631Gly) | ClinVar dbSNP gnomAD v4 |
11 | g.22270398A>T | CA379923413 | ANO5 | n.2A>T c.1535A>T (p.Glu512Val) c.1943A>T (p.Glu648Val) n.2979A>T c.1940A>T (p.Glu647Val) c.1985A>T (p.Glu662Val) n.2320A>T c.1982A>T (p.Glu661Val) c.1907A>T (p.Glu636Val) c.1904A>T (p.Glu635Val) c.1892A>T (p.Glu631Val) | |
11 | g.22270399A>C | CA379923414 | ANO5 | n.3A>C c.1536A>C (p.Glu512Asp) c.1944A>C (p.Glu648Asp) n.2980A>C c.1941A>C (p.Glu647Asp) c.1986A>C (p.Glu662Asp) n.2321A>C c.1983A>C (p.Glu661Asp) c.1908A>C (p.Glu636Asp) c.1905A>C (p.Glu635Asp) c.1893A>C (p.Glu631Asp) | COSMIC |
11 | g.22270399A>G | CA473407433 | ANO5 | n.3A>G c.1536A>G (p.Glu512=) c.1944A>G (p.Glu648=) n.2980A>G c.1941A>G (p.Glu647=) c.1986A>G (p.Glu662=) n.2321A>G c.1983A>G (p.Glu661=) c.1908A>G (p.Glu636=) c.1905A>G (p.Glu635=) c.1893A>G (p.Glu631=) | |
11 | g.22270399A>T | CA379923415 | ANO5 | n.3A>T c.1536A>T (p.Glu512Asp) c.1944A>T (p.Glu648Asp) n.2980A>T c.1941A>T (p.Glu647Asp) c.1986A>T (p.Glu662Asp) n.2321A>T c.1983A>T (p.Glu661Asp) c.1908A>T (p.Glu636Asp) c.1905A>T (p.Glu635Asp) c.1893A>T (p.Glu631Asp) | |
11 | g.22270400A= | CA1957399034 | ANO5 | n.4A= c.1537A= (p.Ser513=) c.1945A= (p.Ser649=) n.2981A= c.1942A= (p.Ser648=) c.1987A= (p.Ser663=) n.2322A= c.1984A= (p.Ser662=) c.1909A= (p.Ser637=) c.1906A= (p.Ser636=) c.1894A= (p.Ser632=) | |
11 | g.22270400A>C | CA379923416 | ANO5 | n.4A>C c.1537A>C (p.Ser513Arg) c.1945A>C (p.Ser649Arg) n.2981A>C c.1942A>C (p.Ser648Arg) c.1987A>C (p.Ser663Arg) n.2322A>C c.1984A>C (p.Ser662Arg) c.1909A>C (p.Ser637Arg) c.1906A>C (p.Ser636Arg) c.1894A>C (p.Ser632Arg) | |
11 | g.22270400A>G | CA5923417 | ANO5 | n.4A>G c.1537A>G (p.Ser513Gly) c.1945A>G (p.Ser649Gly) n.2981A>G c.1942A>G (p.Ser648Gly) c.1987A>G (p.Ser663Gly) n.2322A>G c.1984A>G (p.Ser662Gly) c.1909A>G (p.Ser637Gly) c.1906A>G (p.Ser636Gly) c.1894A>G (p.Ser632Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.22270400A>T | CA379923417 | ANO5 | n.4A>T c.1537A>T (p.Ser513Cys) c.1945A>T (p.Ser649Cys) n.2981A>T c.1942A>T (p.Ser648Cys) c.1987A>T (p.Ser663Cys) n.2322A>T c.1984A>T (p.Ser662Cys) c.1909A>T (p.Ser637Cys) c.1906A>T (p.Ser636Cys) c.1894A>T (p.Ser632Cys) | |
11 | g.22270401G>A | CA379923420 | ANO5 | n.5G>A c.1538G>A (p.Ser513Asn) c.1946G>A (p.Ser649Asn) n.2982G>A c.1943G>A (p.Ser648Asn) c.1988G>A (p.Ser663Asn) n.2323G>A c.1985G>A (p.Ser662Asn) c.1910G>A (p.Ser637Asn) c.1907G>A (p.Ser636Asn) c.1895G>A (p.Ser632Asn) | |
11 | g.22270401G>C | CA379923419 | ANO5 | n.5G>C c.1538G>C (p.Ser513Thr) c.1946G>C (p.Ser649Thr) n.2982G>C c.1943G>C (p.Ser648Thr) c.1988G>C (p.Ser663Thr) n.2323G>C c.1985G>C (p.Ser662Thr) c.1910G>C (p.Ser637Thr) c.1907G>C (p.Ser636Thr) c.1895G>C (p.Ser632Thr) | |
11 | g.22270401G= | CA1957399038 | ANO5 | n.5G= c.1538G= (p.Ser513=) c.1946G= (p.Ser649=) n.2982G= c.1943G= (p.Ser648=) c.1988G= (p.Ser663=) n.2323G= c.1985G= (p.Ser662=) c.1910G= (p.Ser637=) c.1907G= (p.Ser636=) c.1895G= (p.Ser632=) | |
11 | g.22270401G>T | CA379923418 | ANO5 | n.5G>T c.1538G>T (p.Ser513Ile) c.1946G>T (p.Ser649Ile) n.2982G>T c.1943G>T (p.Ser648Ile) c.1988G>T (p.Ser663Ile) n.2323G>T c.1985G>T (p.Ser662Ile) c.1910G>T (p.Ser637Ile) c.1907G>T (p.Ser636Ile) c.1895G>T (p.Ser632Ile) | |
11 | g.22270402T>A | CA379923421 | ANO5 | n.6T>A c.1539T>A (p.Ser513Arg) c.1947T>A (p.Ser649Arg) n.2983T>A c.1944T>A (p.Ser648Arg) c.1989T>A (p.Ser663Arg) n.2324T>A c.1986T>A (p.Ser662Arg) c.1911T>A (p.Ser637Arg) c.1908T>A (p.Ser636Arg) c.1896T>A (p.Ser632Arg) | |
11 | g.22270402T>C | CA5923418 | ANO5 | n.6T>C c.1539T>C (p.Ser513=) c.1947T>C (p.Ser649=) n.2983T>C c.1944T>C (p.Ser648=) c.1989T>C (p.Ser663=) n.2324T>C c.1986T>C (p.Ser662=) c.1911T>C (p.Ser637=) c.1908T>C (p.Ser636=) c.1896T>C (p.Ser632=) | ClinVar dbSNP ExAC gnomAD v4 |
11 | g.22270402T>G | CA379923422 | ANO5 | n.6T>G c.1539T>G (p.Ser513Arg) c.1947T>G (p.Ser649Arg) n.2983T>G c.1944T>G (p.Ser648Arg) c.1989T>G (p.Ser663Arg) n.2324T>G c.1986T>G (p.Ser662Arg) c.1911T>G (p.Ser637Arg) c.1908T>G (p.Ser636Arg) c.1896T>G (p.Ser632Arg) | |
11 | g.22270402T= | CA1957399045 | ANO5 | n.6T= c.1539T= (p.Ser513=) c.1947T= (p.Ser649=) n.2983T= c.1944T= (p.Ser648=) c.1989T= (p.Ser663=) n.2324T= c.1986T= (p.Ser662=) c.1911T= (p.Ser637=) c.1908T= (p.Ser636=) c.1896T= (p.Ser632=) | |
11 | g.22270405dup | CA10605612 | ANO5 | n.9dup c.1542dup (p.Gly515TrpfsTer8) c.1950dup (p.Gly651TrpfsTer8) n.2986dup c.1947dup (p.Gly650TrpfsTer8) c.1992dup (p.Gly665TrpfsTer8) n.2327dup c.1989dup (p.Gly664TrpfsTer8) c.1914dup (p.Gly639TrpfsTer8) c.1911dup (p.Gly638TrpfsTer8) c.1899dup (p.Gly634TrpfsTer8) | ClinVar dbSNP |
11 | g.22270403T>A | CA379923423 | ANO5 | n.7T>A c.1540T>A (p.Phe514Ile) c.1948T>A (p.Phe650Ile) n.2984T>A c.1945T>A (p.Phe649Ile) c.1990T>A (p.Phe664Ile) n.2325T>A c.1987T>A (p.Phe663Ile) c.1912T>A (p.Phe638Ile) c.1909T>A (p.Phe637Ile) c.1897T>A (p.Phe633Ile) | |
11 | g.22270403T>C | CA379923424 | ANO5 | n.7T>C c.1540T>C (p.Phe514Leu) c.1948T>C (p.Phe650Leu) n.2984T>C c.1945T>C (p.Phe649Leu) c.1990T>C (p.Phe664Leu) n.2325T>C c.1987T>C (p.Phe663Leu) c.1912T>C (p.Phe638Leu) c.1909T>C (p.Phe637Leu) c.1897T>C (p.Phe633Leu) | |
11 | g.22270403T>G | CA379923425 | ANO5 | n.7T>G c.1540T>G (p.Phe514Val) c.1948T>G (p.Phe650Val) n.2984T>G c.1945T>G (p.Phe649Val) c.1990T>G (p.Phe664Val) n.2325T>G c.1987T>G (p.Phe663Val) c.1912T>G (p.Phe638Val) c.1909T>G (p.Phe637Val) c.1897T>G (p.Phe633Val) | COSMIC |
11 | g.22270404T>A | CA379923426 | ANO5 | n.8T>A c.1541T>A (p.Phe514Tyr) c.1949T>A (p.Phe650Tyr) n.2985T>A c.1946T>A (p.Phe649Tyr) c.1991T>A (p.Phe664Tyr) n.2326T>A c.1988T>A (p.Phe663Tyr) c.1913T>A (p.Phe638Tyr) c.1910T>A (p.Phe637Tyr) c.1898T>A (p.Phe633Tyr) | gnomAD v4 |
11 | g.22270404T>C | CA379923427 | ANO5 | n.8T>C c.1541T>C (p.Phe514Ser) c.1949T>C (p.Phe650Ser) n.2985T>C c.1946T>C (p.Phe649Ser) c.1991T>C (p.Phe664Ser) n.2326T>C c.1988T>C (p.Phe663Ser) c.1913T>C (p.Phe638Ser) c.1910T>C (p.Phe637Ser) c.1898T>C (p.Phe633Ser) | |
11 | g.22270404T>G | CA379923428 | ANO5 | n.8T>G c.1541T>G (p.Phe514Cys) c.1949T>G (p.Phe650Cys) n.2985T>G c.1946T>G (p.Phe649Cys) c.1991T>G (p.Phe664Cys) n.2326T>G c.1988T>G (p.Phe663Cys) c.1913T>G (p.Phe638Cys) c.1910T>G (p.Phe637Cys) c.1898T>G (p.Phe633Cys) | COSMIC |
11 | g.22270404_22270405insGGAC | CA218774209 | ANO5 | n.8_9insGGAC c.1541_1542insGGAC (p.Phe514LeufsTer10) c.1949_1950insGGAC (p.Phe650LeufsTer10) n.2985_2986insGGAC c.1946_1947insGGAC (p.Phe649LeufsTer10) c.1991_1992insGGAC (p.Phe664LeufsTer10) n.2326_2327insGGAC c.1988_1989insGGAC (p.Phe663LeufsTer10) c.1913_1914insGGAC (p.Phe638LeufsTer10) c.1910_1911insGGAC (p.Phe637LeufsTer10) c.1898_1899insGGAC (p.Phe633LeufsTer10) | |
11 | g.22270405T>A | CA379923429 | ANO5 | n.9T>A c.1542T>A (p.Phe514Leu) c.1950T>A (p.Phe650Leu) n.2986T>A c.1947T>A (p.Phe649Leu) c.1992T>A (p.Phe664Leu) n.2327T>A c.1989T>A (p.Phe663Leu) c.1914T>A (p.Phe638Leu) c.1911T>A (p.Phe637Leu) c.1899T>A (p.Phe633Leu) | |
11 | g.22270405T>C | CA473407434 | ANO5 | n.9T>C c.1542T>C (p.Phe514=) c.1950T>C (p.Phe650=) n.2986T>C c.1947T>C (p.Phe649=) c.1992T>C (p.Phe664=) n.2327T>C c.1989T>C (p.Phe663=) c.1914T>C (p.Phe638=) c.1911T>C (p.Phe637=) c.1899T>C (p.Phe633=) | ClinVar dbSNP |
11 | g.22270405T>G | CA379923430 | ANO5 | n.9T>G c.1542T>G (p.Phe514Leu) c.1950T>G (p.Phe650Leu) n.2986T>G c.1947T>G (p.Phe649Leu) c.1992T>G (p.Phe664Leu) n.2327T>G c.1989T>G (p.Phe663Leu) c.1914T>G (p.Phe638Leu) c.1911T>G (p.Phe637Leu) c.1899T>G (p.Phe633Leu) | ClinVar |
11 | g.22270405T= | CA1957399052 | ANO5 | n.9T= c.1542T= (p.Phe514=) c.1950T= (p.Phe650=) n.2986T= c.1947T= (p.Phe649=) c.1992T= (p.Phe664=) n.2327T= c.1989T= (p.Phe663=) c.1914T= (p.Phe638=) c.1911T= (p.Phe637=) c.1899T= (p.Phe633=) | |
11 | g.22270406G>A | CA379923433 | ANO5 | n.10G>A c.1543G>A (p.Gly515Arg) c.1951G>A (p.Gly651Arg) n.2987G>A c.1948G>A (p.Gly650Arg) c.1993G>A (p.Gly665Arg) n.2328G>A c.1990G>A (p.Gly664Arg) c.1915G>A (p.Gly639Arg) c.1912G>A (p.Gly638Arg) c.1900G>A (p.Gly634Arg) | |
11 | g.22270406G>C | CA379923432 | ANO5 | n.10G>C c.1543G>C (p.Gly515Arg) c.1951G>C (p.Gly651Arg) n.2987G>C c.1948G>C (p.Gly650Arg) c.1993G>C (p.Gly665Arg) n.2328G>C c.1990G>C (p.Gly664Arg) c.1915G>C (p.Gly639Arg) c.1912G>C (p.Gly638Arg) c.1900G>C (p.Gly634Arg) | |
11 | g.22270406G>T | CA379923431 | ANO5 | n.10G>T c.1543G>T (p.Gly515Ter) c.1951G>T (p.Gly651Ter) n.2987G>T c.1948G>T (p.Gly650Ter) c.1993G>T (p.Gly665Ter) n.2328G>T c.1990G>T (p.Gly664Ter) c.1915G>T (p.Gly639Ter) c.1912G>T (p.Gly638Ter) c.1900G>T (p.Gly634Ter) | |
11 | g.22270406_22270409dup | CA5923419 | ANO5 | n.10_13dup c.1543_1546dup (p.Pro516ArgfsTer8) c.1951_1954dup (p.Pro652ArgfsTer8) n.2987_2990dup c.1948_1951dup (p.Pro651ArgfsTer8) c.1993_1996dup (p.Pro666ArgfsTer8) n.2328_2331dup c.1990_1993dup (p.Pro665ArgfsTer8) c.1915_1918dup (p.Pro640ArgfsTer8) c.1912_1915dup (p.Pro639ArgfsTer8) c.1900_1903dup (p.Pro635ArgfsTer8) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22270407G>A | CA379923434 | ANO5 | n.11G>A c.1544G>A (p.Gly515Glu) c.1952G>A (p.Gly651Glu) n.2988G>A c.1949G>A (p.Gly650Glu) c.1994G>A (p.Gly665Glu) n.2329G>A c.1991G>A (p.Gly664Glu) c.1916G>A (p.Gly639Glu) c.1913G>A (p.Gly638Glu) c.1901G>A (p.Gly634Glu) | gnomAD v4 |
11 | g.22270407G>C | CA379923435 | ANO5 | n.11G>C c.1544G>C (p.Gly515Ala) c.1952G>C (p.Gly651Ala) n.2988G>C c.1949G>C (p.Gly650Ala) c.1994G>C (p.Gly665Ala) n.2329G>C c.1991G>C (p.Gly664Ala) c.1916G>C (p.Gly639Ala) c.1913G>C (p.Gly638Ala) c.1901G>C (p.Gly634Ala) | |
11 | g.22270407G>T | CA379923436 | ANO5 | n.11G>T c.1544G>T (p.Gly515Val) c.1952G>T (p.Gly651Val) n.2988G>T c.1949G>T (p.Gly650Val) c.1994G>T (p.Gly665Val) n.2329G>T c.1991G>T (p.Gly664Val) c.1916G>T (p.Gly639Val) c.1913G>T (p.Gly638Val) c.1901G>T (p.Gly634Val) | |
11 | g.22270408A= | CA1957399057 | ANO5 | n.12A= c.1545A= (p.Gly515=) c.1953A= (p.Gly651=) n.2989A= c.1950A= (p.Gly650=) c.1995A= (p.Gly665=) n.2330A= c.1992A= (p.Gly664=) c.1917A= (p.Gly639=) c.1914A= (p.Gly638=) c.1902A= (p.Gly634=) | |
11 | g.22270408A>C | CA473407435 | ANO5 | n.12A>C c.1545A>C (p.Gly515=) c.1953A>C (p.Gly651=) n.2989A>C c.1950A>C (p.Gly650=) c.1995A>C (p.Gly665=) n.2330A>C c.1992A>C (p.Gly664=) c.1917A>C (p.Gly639=) c.1914A>C (p.Gly638=) c.1902A>C (p.Gly634=) | |
11 | g.22270408A>G | CA473407436 | ANO5 | n.12A>G c.1545A>G (p.Gly515=) c.1953A>G (p.Gly651=) n.2989A>G c.1950A>G (p.Gly650=) c.1995A>G (p.Gly665=) n.2330A>G c.1992A>G (p.Gly664=) c.1917A>G (p.Gly639=) c.1914A>G (p.Gly638=) c.1902A>G (p.Gly634=) | dbSNP |
11 | g.22270408A>T | CA473407437 | ANO5 | n.12A>T c.1545A>T (p.Gly515=) c.1953A>T (p.Gly651=) n.2989A>T c.1950A>T (p.Gly650=) c.1995A>T (p.Gly665=) n.2330A>T c.1992A>T (p.Gly664=) c.1917A>T (p.Gly639=) c.1914A>T (p.Gly638=) c.1902A>T (p.Gly634=) | |
11 | g.22270417_22270418insTCCAAAAAACCCCTTGGG | CA2612836967 | ANO5 | n.21_22insTCCAAAAAACCCCTTGGG c.1554_1555insTCCAAAAAACCCCTTGGG (p.Gly518_Leu519insSerLysLysProLeuGly) c.1962_1963insTCCAAAAAACCCCTTGGG (p.Gly654_Leu655insSerLysLysProLeuGly) n.2998_2999insTCCAAAAAACCCCTTGGG c.1959_1960insTCCAAAAAACCCCTTGGG (p.Gly653_Leu654insSerLysLysProLeuGly) c.2004_2005insTCCAAAAAACCCCTTGGG (p.Gly668_Leu669insSerLysLysProLeuGly) n.2339_2340insTCCAAAAAACCCCTTGGG c.2001_2002insTCCAAAAAACCCCTTGGG (p.Gly667_Leu668insSerLysLysProLeuGly) c.1926_1927insTCCAAAAAACCCCTTGGG (p.Gly642_Leu643insSerLysLysProLeuGly) c.1923_1924insTCCAAAAAACCCCTTGGG (p.Gly641_Leu642insSerLysLysProLeuGly) c.1911_1912insTCCAAAAAACCCCTTGGG (p.Gly637_Leu638insSerLysLysProLeuGly) | gnomAD v4 |
11 | g.22270409C>A | CA379923437 | ANO5 | n.13C>A c.1546C>A (p.Pro516Thr) c.1954C>A (p.Pro652Thr) n.2990C>A c.1951C>A (p.Pro651Thr) c.1996C>A (p.Pro666Thr) n.2331C>A c.1993C>A (p.Pro665Thr) c.1918C>A (p.Pro640Thr) c.1915C>A (p.Pro639Thr) c.1903C>A (p.Pro635Thr) | ClinVar gnomAD v4 |
11 | g.22270409C= | CA1957399062 | ANO5 | n.13C= c.1546C= (p.Pro516=) c.1954C= (p.Pro652=) n.2990C= c.1951C= (p.Pro651=) c.1996C= (p.Pro666=) n.2331C= c.1993C= (p.Pro665=) c.1918C= (p.Pro640=) c.1915C= (p.Pro639=) c.1903C= (p.Pro635=) | |
11 | g.22270409C>G | CA379923438 | ANO5 | n.13C>G c.1546C>G (p.Pro516Ala) c.1954C>G (p.Pro652Ala) n.2990C>G c.1951C>G (p.Pro651Ala) c.1996C>G (p.Pro666Ala) n.2331C>G c.1993C>G (p.Pro665Ala) c.1918C>G (p.Pro640Ala) c.1915C>G (p.Pro639Ala) c.1903C>G (p.Pro635Ala) | |
11 | g.22270409C>T | CA379923439 | ANO5 | n.13C>T c.1546C>T (p.Pro516Ser) c.1954C>T (p.Pro652Ser) n.2990C>T c.1951C>T (p.Pro651Ser) c.1996C>T (p.Pro666Ser) n.2331C>T c.1993C>T (p.Pro665Ser) c.1918C>T (p.Pro640Ser) c.1915C>T (p.Pro639Ser) c.1903C>T (p.Pro635Ser) | dbSNP |
11 | g.22270412dup | CA2612836968 | ANO5 | n.16dup c.1549dup (p.Leu517ProfsTer6) c.1957dup (p.Leu653ProfsTer6) n.2993dup c.1954dup (p.Leu652ProfsTer6) c.1999dup (p.Leu667ProfsTer6) n.2334dup c.1996dup (p.Leu666ProfsTer6) c.1921dup (p.Leu641ProfsTer6) c.1918dup (p.Leu640ProfsTer6) c.1906dup (p.Leu636ProfsTer6) | gnomAD v4 |
11 | g.22270410C>A | CA379923440 | ANO5 | n.14C>A c.1547C>A (p.Pro516His) c.1955C>A (p.Pro652His) n.2991C>A c.1952C>A (p.Pro651His) c.1997C>A (p.Pro666His) n.2332C>A c.1994C>A (p.Pro665His) c.1919C>A (p.Pro640His) c.1916C>A (p.Pro639His) c.1904C>A (p.Pro635His) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.22270410C= | CA1957399066 | ANO5 | n.14C= c.1547C= (p.Pro516=) c.1955C= (p.Pro652=) n.2991C= c.1952C= (p.Pro651=) c.1997C= (p.Pro666=) n.2332C= c.1994C= (p.Pro665=) c.1919C= (p.Pro640=) c.1916C= (p.Pro639=) c.1904C= (p.Pro635=) | |
11 | g.22270410C>G | CA379923441 | ANO5 | n.14C>G c.1547C>G (p.Pro516Arg) c.1955C>G (p.Pro652Arg) n.2991C>G c.1952C>G (p.Pro651Arg) c.1997C>G (p.Pro666Arg) n.2332C>G c.1994C>G (p.Pro665Arg) c.1919C>G (p.Pro640Arg) c.1916C>G (p.Pro639Arg) c.1904C>G (p.Pro635Arg) | |
11 | g.22270410C>T | CA379923442 | ANO5 | n.14C>T c.1547C>T (p.Pro516Leu) c.1955C>T (p.Pro652Leu) n.2991C>T c.1952C>T (p.Pro651Leu) c.1997C>T (p.Pro666Leu) n.2332C>T c.1994C>T (p.Pro665Leu) c.1919C>T (p.Pro640Leu) c.1916C>T (p.Pro639Leu) c.1904C>T (p.Pro635Leu) | |
11 | g.22270411C>A | CA473407438 | ANO5 | n.15C>A c.1548C>A (p.Pro516=) c.1956C>A (p.Pro652=) n.2992C>A c.1953C>A (p.Pro651=) c.1998C>A (p.Pro666=) n.2333C>A c.1995C>A (p.Pro665=) c.1920C>A (p.Pro640=) c.1917C>A (p.Pro639=) c.1905C>A (p.Pro635=) | |
11 | g.22270411C>G | CA473407439 | ANO5 | n.15C>G c.1548C>G (p.Pro516=) c.1956C>G (p.Pro652=) n.2992C>G c.1953C>G (p.Pro651=) c.1998C>G (p.Pro666=) n.2333C>G c.1995C>G (p.Pro665=) c.1920C>G (p.Pro640=) c.1917C>G (p.Pro639=) c.1905C>G (p.Pro635=) | |
11 | g.22270411C>T | CA473407440 | ANO5 | n.15C>T c.1548C>T (p.Pro516=) c.1956C>T (p.Pro652=) n.2992C>T c.1953C>T (p.Pro651=) c.1998C>T (p.Pro666=) n.2333C>T c.1995C>T (p.Pro665=) c.1920C>T (p.Pro640=) c.1917C>T (p.Pro639=) c.1905C>T (p.Pro635=) | |
11 | g.22270412C>A | CA379923443 | ANO5 | n.16C>A c.1549C>A (p.Leu517Ile) c.1957C>A (p.Leu653Ile) n.2993C>A c.1954C>A (p.Leu652Ile) c.1999C>A (p.Leu667Ile) n.2334C>A c.1996C>A (p.Leu666Ile) c.1921C>A (p.Leu641Ile) c.1918C>A (p.Leu640Ile) c.1906C>A (p.Leu636Ile) | |
11 | g.22270412C>G | CA379923444 | ANO5 | n.16C>G c.1549C>G (p.Leu517Val) c.1957C>G (p.Leu653Val) n.2993C>G c.1954C>G (p.Leu652Val) c.1999C>G (p.Leu667Val) n.2334C>G c.1996C>G (p.Leu666Val) c.1921C>G (p.Leu641Val) c.1918C>G (p.Leu640Val) c.1906C>G (p.Leu636Val) | gnomAD v4 COSMIC |
11 | g.22270412C>T | CA379923445 | ANO5 | n.16C>T c.1549C>T (p.Leu517Phe) c.1957C>T (p.Leu653Phe) n.2993C>T c.1954C>T (p.Leu652Phe) c.1999C>T (p.Leu667Phe) n.2334C>T c.1996C>T (p.Leu666Phe) c.1921C>T (p.Leu641Phe) c.1918C>T (p.Leu640Phe) c.1906C>T (p.Leu636Phe) | |
11 | g.22270413T>A | CA379923447 | ANO5 | n.17T>A c.1550T>A (p.Leu517His) c.1958T>A (p.Leu653His) n.2994T>A c.1955T>A (p.Leu652His) c.2000T>A (p.Leu667His) n.2335T>A c.1997T>A (p.Leu666His) c.1922T>A (p.Leu641His) c.1919T>A (p.Leu640His) c.1907T>A (p.Leu636His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.22270413T>C | CA379923448 | ANO5 | n.17T>C c.1550T>C (p.Leu517Pro) c.1958T>C (p.Leu653Pro) n.2994T>C c.1955T>C (p.Leu652Pro) c.2000T>C (p.Leu667Pro) n.2335T>C c.1997T>C (p.Leu666Pro) c.1922T>C (p.Leu641Pro) c.1919T>C (p.Leu640Pro) c.1907T>C (p.Leu636Pro) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
11 | g.22270413T>G | CA379923446 | ANO5 | n.17T>G c.1550T>G (p.Leu517Arg) c.1958T>G (p.Leu653Arg) n.2994T>G c.1955T>G (p.Leu652Arg) c.2000T>G (p.Leu667Arg) n.2335T>G c.1997T>G (p.Leu666Arg) c.1922T>G (p.Leu641Arg) c.1919T>G (p.Leu640Arg) c.1907T>G (p.Leu636Arg) | |
11 | g.22270413T= | CA1957399071 | ANO5 | n.17T= c.1550T= (p.Leu517=) c.1958T= (p.Leu653=) n.2994T= c.1955T= (p.Leu652=) c.2000T= (p.Leu667=) n.2335T= c.1997T= (p.Leu666=) c.1922T= (p.Leu641=) c.1919T= (p.Leu640=) c.1907T= (p.Leu636=) | |
11 | g.22270414T>A | CA473407441 | ANO5 | n.18T>A c.1551T>A (p.Leu517=) c.1959T>A (p.Leu653=) n.2995T>A c.1956T>A (p.Leu652=) c.2001T>A (p.Leu667=) n.2336T>A c.1998T>A (p.Leu666=) c.1923T>A (p.Leu641=) c.1920T>A (p.Leu640=) c.1908T>A (p.Leu636=) | |
11 | g.22270414T>C | CA473407442 | ANO5 | n.18T>C c.1551T>C (p.Leu517=) c.1959T>C (p.Leu653=) n.2995T>C c.1956T>C (p.Leu652=) c.2001T>C (p.Leu667=) n.2336T>C c.1998T>C (p.Leu666=) c.1923T>C (p.Leu641=) c.1920T>C (p.Leu640=) c.1908T>C (p.Leu636=) | |
11 | g.22270414T>G | CA473407443 | ANO5 | n.18T>G c.1551T>G (p.Leu517=) c.1959T>G (p.Leu653=) n.2995T>G c.1956T>G (p.Leu652=) c.2001T>G (p.Leu667=) n.2336T>G c.1998T>G (p.Leu666=) c.1923T>G (p.Leu641=) c.1920T>G (p.Leu640=) c.1908T>G (p.Leu636=) | |
11 | g.22270414_22270415delinsTG | CA1957399076 | ANO5 | n.18_19delinsTG c.1551_1552delinsTG (p.Leu517=) c.1959_1960delinsTG (p.Leu653=) n.2995_2996delinsTG c.1956_1957delinsTG (p.Leu652=) c.2001_2002delinsTG (p.Leu667=) n.2336_2337delinsTG c.1998_1999delinsTG (p.Leu666=) c.1923_1924delinsTG (p.Leu641=) c.1920_1921delinsTG (p.Leu640=) c.1908_1909delinsTG (p.Leu636=) | |
11 | g.22270415G>A | CA379923451 | ANO5 | n.19G>A c.1552G>A (p.Gly518Arg) c.1960G>A (p.Gly654Arg) n.2996G>A c.1957G>A (p.Gly653Arg) c.2002G>A (p.Gly668Arg) n.2337G>A c.1999G>A (p.Gly667Arg) c.1924G>A (p.Gly642Arg) c.1921G>A (p.Gly641Arg) c.1909G>A (p.Gly637Arg) | gnomAD v4 |
11 | g.22270415G>C | CA379923450 | ANO5 | n.19G>C c.1552G>C (p.Gly518Arg) c.1960G>C (p.Gly654Arg) n.2996G>C c.1957G>C (p.Gly653Arg) c.2002G>C (p.Gly668Arg) n.2337G>C c.1999G>C (p.Gly667Arg) c.1924G>C (p.Gly642Arg) c.1921G>C (p.Gly641Arg) c.1909G>C (p.Gly637Arg) | |
11 | g.22270415G>T | CA379923449 | ANO5 | n.19G>T c.1552G>T (p.Gly518Trp) c.1960G>T (p.Gly654Trp) n.2996G>T c.1957G>T (p.Gly653Trp) c.2002G>T (p.Gly668Trp) n.2337G>T c.1999G>T (p.Gly667Trp) c.1924G>T (p.Gly642Trp) c.1921G>T (p.Gly641Trp) c.1909G>T (p.Gly637Trp) | |
11 | g.22270417del | CA10605199 | ANO5 | n.21del c.1554del (p.Leu519PhefsTer6) c.1962del (p.Leu655PhefsTer6) n.2998del c.1959del (p.Leu654PhefsTer6) c.2004del (p.Leu669PhefsTer6) n.2339del c.2001del (p.Leu668PhefsTer6) c.1926del (p.Leu643PhefsTer6) c.1923del (p.Leu642PhefsTer6) c.1911del (p.Leu638PhefsTer6) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22270416G>A | CA379923452 | ANO5 | n.20G>A c.1553G>A (p.Gly518Glu) c.1961G>A (p.Gly654Glu) n.2997G>A c.1958G>A (p.Gly653Glu) c.2003G>A (p.Gly668Glu) n.2338G>A c.2000G>A (p.Gly667Glu) c.1925G>A (p.Gly642Glu) c.1922G>A (p.Gly641Glu) c.1910G>A (p.Gly637Glu) | |
11 | g.22270416G>C | CA379923453 | ANO5 | n.20G>C c.1553G>C (p.Gly518Ala) c.1961G>C (p.Gly654Ala) n.2997G>C c.1958G>C (p.Gly653Ala) c.2003G>C (p.Gly668Ala) n.2338G>C c.2000G>C (p.Gly667Ala) c.1925G>C (p.Gly642Ala) c.1922G>C (p.Gly641Ala) c.1910G>C (p.Gly637Ala) | |
11 | g.22270416G>T | CA379923454 | ANO5 | n.20G>T c.1553G>T (p.Gly518Val) c.1961G>T (p.Gly654Val) n.2997G>T c.1958G>T (p.Gly653Val) c.2003G>T (p.Gly668Val) n.2338G>T c.2000G>T (p.Gly667Val) c.1925G>T (p.Gly642Val) c.1922G>T (p.Gly641Val) c.1910G>T (p.Gly637Val) | dbSNP |
11 | g.22270417G>A | CA473407444 | ANO5 | n.21G>A c.1554G>A (p.Gly518=) c.1962G>A (p.Gly654=) n.2998G>A c.1959G>A (p.Gly653=) c.2004G>A (p.Gly668=) n.2339G>A c.2001G>A (p.Gly667=) c.1926G>A (p.Gly642=) c.1923G>A (p.Gly641=) c.1911G>A (p.Gly637=) | |
11 | g.22270417G>C | CA473407445 | ANO5 | n.21G>C c.1554G>C (p.Gly518=) c.1962G>C (p.Gly654=) n.2998G>C c.1959G>C (p.Gly653=) c.2004G>C (p.Gly668=) n.2339G>C c.2001G>C (p.Gly667=) c.1926G>C (p.Gly642=) c.1923G>C (p.Gly641=) c.1911G>C (p.Gly637=) | |
11 | g.22270417G>T | CA473407446 | ANO5 | n.21G>T c.1554G>T (p.Gly518=) c.1962G>T (p.Gly654=) n.2998G>T c.1959G>T (p.Gly653=) c.2004G>T (p.Gly668=) n.2339G>T c.2001G>T (p.Gly667=) c.1926G>T (p.Gly642=) c.1923G>T (p.Gly641=) c.1911G>T (p.Gly637=) | |
11 | g.22270418C>A | CA379923455 | ANO5 | n.22C>A c.1555C>A (p.Leu519Ile) c.1963C>A (p.Leu655Ile) n.2999C>A c.1960C>A (p.Leu654Ile) c.2005C>A (p.Leu669Ile) n.2340C>A c.2002C>A (p.Leu668Ile) c.1927C>A (p.Leu643Ile) c.1924C>A (p.Leu642Ile) c.1912C>A (p.Leu638Ile) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
11 | g.22270418C= | CA1957399089 | ANO5 | n.22C= c.1555C= (p.Leu519=) c.1963C= (p.Leu655=) n.2999C= c.1960C= (p.Leu654=) c.2005C= (p.Leu669=) n.2340C= c.2002C= (p.Leu668=) c.1927C= (p.Leu643=) c.1924C= (p.Leu642=) c.1912C= (p.Leu638=) | |
11 | g.22270418C>G | CA379923456 | ANO5 | n.22C>G c.1555C>G (p.Leu519Val) c.1963C>G (p.Leu655Val) n.2999C>G c.1960C>G (p.Leu654Val) c.2005C>G (p.Leu669Val) n.2340C>G c.2002C>G (p.Leu668Val) c.1927C>G (p.Leu643Val) c.1924C>G (p.Leu642Val) c.1912C>G (p.Leu638Val) | |
11 | g.22270418C>T | CA379923457 | ANO5 | n.22C>T c.1555C>T (p.Leu519Phe) c.1963C>T (p.Leu655Phe) n.2999C>T c.1960C>T (p.Leu654Phe) c.2005C>T (p.Leu669Phe) n.2340C>T c.2002C>T (p.Leu668Phe) c.1927C>T (p.Leu643Phe) c.1924C>T (p.Leu642Phe) c.1912C>T (p.Leu638Phe) | gnomAD v4 |
11 | g.22270419T>A | CA379923458 | ANO5 | n.23T>A c.1556T>A (p.Leu519His) c.1964T>A (p.Leu655His) n.3000T>A c.1961T>A (p.Leu654His) c.2006T>A (p.Leu669His) n.2341T>A c.2003T>A (p.Leu668His) c.1928T>A (p.Leu643His) c.1925T>A (p.Leu642His) c.1913T>A (p.Leu638His) | |
11 | g.22270419T>C | CA379923459 | ANO5 | n.23T>C c.1556T>C (p.Leu519Pro) c.1964T>C (p.Leu655Pro) n.3000T>C c.1961T>C (p.Leu654Pro) c.2006T>C (p.Leu669Pro) n.2341T>C c.2003T>C (p.Leu668Pro) c.1928T>C (p.Leu643Pro) c.1925T>C (p.Leu642Pro) c.1913T>C (p.Leu638Pro) | |
11 | g.22270419T>G | CA379923460 | ANO5 | n.23T>G c.1556T>G (p.Leu519Arg) c.1964T>G (p.Leu655Arg) n.3000T>G c.1961T>G (p.Leu654Arg) c.2006T>G (p.Leu669Arg) n.2341T>G c.2003T>G (p.Leu668Arg) c.1928T>G (p.Leu643Arg) c.1925T>G (p.Leu642Arg) c.1913T>G (p.Leu638Arg) | |
11 | g.22270420T>A | CA473407448 | ANO5 | n.24T>A c.1557T>A (p.Leu519=) c.1965T>A (p.Leu655=) n.3001T>A c.1962T>A (p.Leu654=) c.2007T>A (p.Leu669=) n.2342T>A c.2004T>A (p.Leu668=) c.1929T>A (p.Leu643=) c.1926T>A (p.Leu642=) c.1914T>A (p.Leu638=) | |
11 | g.22270420T>C | CA473407449 | ANO5 | n.24T>C c.1557T>C (p.Leu519=) c.1965T>C (p.Leu655=) n.3001T>C c.1962T>C (p.Leu654=) c.2007T>C (p.Leu669=) n.2342T>C c.2004T>C (p.Leu668=) c.1929T>C (p.Leu643=) c.1926T>C (p.Leu642=) c.1914T>C (p.Leu638=) | |
11 | g.22270420T>G | CA473407447 | ANO5 | n.24T>G c.1557T>G (p.Leu519=) c.1965T>G (p.Leu655=) n.3001T>G c.1962T>G (p.Leu654=) c.2007T>G (p.Leu669=) n.2342T>G c.2004T>G (p.Leu668=) c.1929T>G (p.Leu643=) c.1926T>G (p.Leu642=) c.1914T>G (p.Leu638=) | |
11 | g.22270421T>A | CA379923462 | ANO5 | n.25T>A c.1558T>A (p.Phe520Ile) c.1966T>A (p.Phe656Ile) n.3002T>A c.1963T>A (p.Phe655Ile) c.2008T>A (p.Phe670Ile) n.2343T>A c.2005T>A (p.Phe669Ile) c.1930T>A (p.Phe644Ile) c.1927T>A (p.Phe643Ile) c.1915T>A (p.Phe639Ile) | |
11 | g.22270421T>C | CA379923463 | ANO5 | n.25T>C c.1558T>C (p.Phe520Leu) c.1966T>C (p.Phe656Leu) n.3002T>C c.1963T>C (p.Phe655Leu) c.2008T>C (p.Phe670Leu) n.2343T>C c.2005T>C (p.Phe669Leu) c.1930T>C (p.Phe644Leu) c.1927T>C (p.Phe643Leu) c.1915T>C (p.Phe639Leu) | |
11 | g.22270421T>G | CA379923461 | ANO5 | n.25T>G c.1558T>G (p.Phe520Val) c.1966T>G (p.Phe656Val) n.3002T>G c.1963T>G (p.Phe655Val) c.2008T>G (p.Phe670Val) n.2343T>G c.2005T>G (p.Phe669Val) c.1930T>G (p.Phe644Val) c.1927T>G (p.Phe643Val) c.1915T>G (p.Phe639Val) | |
11 | g.22270422T>A | CA379923464 | ANO5 | n.26T>A c.1559T>A (p.Phe520Tyr) c.1967T>A (p.Phe656Tyr) n.3003T>A c.1964T>A (p.Phe655Tyr) c.2009T>A (p.Phe670Tyr) n.2344T>A c.2006T>A (p.Phe669Tyr) c.1931T>A (p.Phe644Tyr) c.1928T>A (p.Phe643Tyr) c.1916T>A (p.Phe639Tyr) | |
11 | g.22270422T>C | CA379923466 | ANO5 | n.26T>C c.1559T>C (p.Phe520Ser) c.1967T>C (p.Phe656Ser) n.3003T>C c.1964T>C (p.Phe655Ser) c.2009T>C (p.Phe670Ser) n.2344T>C c.2006T>C (p.Phe669Ser) c.1931T>C (p.Phe644Ser) c.1928T>C (p.Phe643Ser) c.1916T>C (p.Phe639Ser) | |
11 | g.22270422T>G | CA379923465 | ANO5 | n.26T>G c.1559T>G (p.Phe520Cys) c.1967T>G (p.Phe656Cys) n.3003T>G c.1964T>G (p.Phe655Cys) c.2009T>G (p.Phe670Cys) n.2344T>G c.2006T>G (p.Phe669Cys) c.1931T>G (p.Phe644Cys) c.1928T>G (p.Phe643Cys) c.1916T>G (p.Phe639Cys) | dbSNP |
11 | g.22270422T= | CA1957399091 | ANO5 | n.26T= c.1559T= (p.Phe520=) c.1967T= (p.Phe656=) n.3003T= c.1964T= (p.Phe655=) c.2009T= (p.Phe670=) n.2344T= c.2006T= (p.Phe669=) c.1931T= (p.Phe644=) c.1928T= (p.Phe643=) c.1916T= (p.Phe639=) | |
11 | g.22270423C>A | CA379923467 | ANO5 | n.27C>A c.1560C>A (p.Phe520Leu) c.1968C>A (p.Phe656Leu) n.3004C>A c.1965C>A (p.Phe655Leu) c.2010C>A (p.Phe670Leu) n.2345C>A c.2007C>A (p.Phe669Leu) c.1932C>A (p.Phe644Leu) c.1929C>A (p.Phe643Leu) c.1917C>A (p.Phe639Leu) | |
11 | g.22270423C>G | CA379923468 | ANO5 | n.27C>G c.1560C>G (p.Phe520Leu) c.1968C>G (p.Phe656Leu) n.3004C>G c.1965C>G (p.Phe655Leu) c.2010C>G (p.Phe670Leu) n.2345C>G c.2007C>G (p.Phe669Leu) c.1932C>G (p.Phe644Leu) c.1929C>G (p.Phe643Leu) c.1917C>G (p.Phe639Leu) | COSMIC |
11 | g.22270423C>T | CA473407451 | ANO5 | n.27C>T c.1560C>T (p.Phe520=) c.1968C>T (p.Phe656=) n.3004C>T c.1965C>T (p.Phe655=) c.2010C>T (p.Phe670=) n.2345C>T c.2007C>T (p.Phe669=) c.1932C>T (p.Phe644=) c.1929C>T (p.Phe643=) c.1917C>T (p.Phe639=) | ClinVar |
11 | g.22270424T>A | CA379923469 | ANO5 | n.28T>A c.1561T>A (p.Tyr521Asn) c.1969T>A (p.Tyr657Asn) n.3005T>A c.1966T>A (p.Tyr656Asn) c.2011T>A (p.Tyr671Asn) n.2346T>A c.2008T>A (p.Tyr670Asn) c.1933T>A (p.Tyr645Asn) c.1930T>A (p.Tyr644Asn) c.1918T>A (p.Tyr640Asn) | |
11 | g.22270424T>C | CA379923471 | ANO5 | n.28T>C c.1561T>C (p.Tyr521His) c.1969T>C (p.Tyr657His) n.3005T>C c.1966T>C (p.Tyr656His) c.2011T>C (p.Tyr671His) n.2346T>C c.2008T>C (p.Tyr670His) c.1933T>C (p.Tyr645His) c.1930T>C (p.Tyr644His) c.1918T>C (p.Tyr640His) | ClinVar dbSNP |
11 | g.22270424T>G | CA379923470 | ANO5 | n.28T>G c.1561T>G (p.Tyr521Asp) c.1969T>G (p.Tyr657Asp) n.3005T>G c.1966T>G (p.Tyr656Asp) c.2011T>G (p.Tyr671Asp) n.2346T>G c.2008T>G (p.Tyr670Asp) c.1933T>G (p.Tyr645Asp) c.1930T>G (p.Tyr644Asp) c.1918T>G (p.Tyr640Asp) | |
11 | g.22270424T= | CA1957399095 | ANO5 | n.28T= c.1561T= (p.Tyr521=) c.1969T= (p.Tyr657=) n.3005T= c.1966T= (p.Tyr656=) c.2011T= (p.Tyr671=) n.2346T= c.2008T= (p.Tyr670=) c.1933T= (p.Tyr645=) c.1930T= (p.Tyr644=) c.1918T= (p.Tyr640=) | |
11 | g.22270425A= | CA1957399099 | ANO5 | n.29A= c.1562A= (p.Tyr521=) c.1970A= (p.Tyr657=) n.3006A= c.1967A= (p.Tyr656=) c.2012A= (p.Tyr671=) n.2347A= c.2009A= (p.Tyr670=) c.1934A= (p.Tyr645=) c.1931A= (p.Tyr644=) c.1919A= (p.Tyr640=) | |
11 | g.22270425A>C | CA379923472 | ANO5 | n.29A>C c.1562A>C (p.Tyr521Ser) c.1970A>C (p.Tyr657Ser) n.3006A>C c.1967A>C (p.Tyr656Ser) c.2012A>C (p.Tyr671Ser) n.2347A>C c.2009A>C (p.Tyr670Ser) c.1934A>C (p.Tyr645Ser) c.1931A>C (p.Tyr644Ser) c.1919A>C (p.Tyr640Ser) | |
11 | g.22270425A>G | CA5923420 | ANO5 | n.29A>G c.1562A>G (p.Tyr521Cys) c.1970A>G (p.Tyr657Cys) n.3006A>G c.1967A>G (p.Tyr656Cys) c.2012A>G (p.Tyr671Cys) n.2347A>G c.2009A>G (p.Tyr670Cys) c.1934A>G (p.Tyr645Cys) c.1931A>G (p.Tyr644Cys) c.1919A>G (p.Tyr640Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.22270425A>T | CA379923473 | ANO5 | n.29A>T c.1562A>T (p.Tyr521Phe) c.1970A>T (p.Tyr657Phe) n.3006A>T c.1967A>T (p.Tyr656Phe) c.2012A>T (p.Tyr671Phe) n.2347A>T c.2009A>T (p.Tyr670Phe) c.1934A>T (p.Tyr645Phe) c.1931A>T (p.Tyr644Phe) c.1919A>T (p.Tyr640Phe) | |
11 | g.22270426T>A | CA379923474 | ANO5 | n.30T>A c.1563T>A (p.Tyr521Ter) c.1971T>A (p.Tyr657Ter) n.3007T>A c.1968T>A (p.Tyr656Ter) c.2013T>A (p.Tyr671Ter) n.2348T>A c.2010T>A (p.Tyr670Ter) c.1935T>A (p.Tyr645Ter) c.1932T>A (p.Tyr644Ter) c.1920T>A (p.Tyr640Ter) | |
11 | g.22270426T>C | CA473407452 | ANO5 | n.30T>C c.1563T>C (p.Tyr521=) c.1971T>C (p.Tyr657=) n.3007T>C c.1968T>C (p.Tyr656=) c.2013T>C (p.Tyr671=) n.2348T>C c.2010T>C (p.Tyr670=) c.1935T>C (p.Tyr645=) c.1932T>C (p.Tyr644=) c.1920T>C (p.Tyr640=) | |
11 | g.22270426T>G | CA379923475 | ANO5 | n.30T>G c.1563T>G (p.Tyr521Ter) c.1971T>G (p.Tyr657Ter) n.3007T>G c.1968T>G (p.Tyr656Ter) c.2013T>G (p.Tyr671Ter) n.2348T>G c.2010T>G (p.Tyr670Ter) c.1935T>G (p.Tyr645Ter) c.1932T>G (p.Tyr644Ter) c.1920T>G (p.Tyr640Ter) | |
11 | g.22270427G>A | CA379923476 | ANO5 | n.31G>A c.1564G>A (p.Glu522Lys) c.1972G>A (p.Glu658Lys) n.3008G>A c.1969G>A (p.Glu657Lys) c.2014G>A (p.Glu672Lys) n.2349G>A c.2011G>A (p.Glu671Lys) c.1936G>A (p.Glu646Lys) c.1933G>A (p.Glu645Lys) c.1921G>A (p.Glu641Lys) | |
11 | g.22270427G>C | CA379923477 | ANO5 | n.31G>C c.1564G>C (p.Glu522Gln) c.1972G>C (p.Glu658Gln) n.3008G>C c.1969G>C (p.Glu657Gln) c.2014G>C (p.Glu672Gln) n.2349G>C c.2011G>C (p.Glu671Gln) c.1936G>C (p.Glu646Gln) c.1933G>C (p.Glu645Gln) c.1921G>C (p.Glu641Gln) | |
11 | g.22270427G>T | CA379923478 | ANO5 | n.31G>T c.1564G>T (p.Glu522Ter) c.1972G>T (p.Glu658Ter) n.3008G>T c.1969G>T (p.Glu657Ter) c.2014G>T (p.Glu672Ter) n.2349G>T c.2011G>T (p.Glu671Ter) c.1936G>T (p.Glu646Ter) c.1933G>T (p.Glu645Ter) c.1921G>T (p.Glu641Ter) | |
11 | g.22270428A>C | CA379923479 | ANO5 | n.32A>C c.1565A>C (p.Glu522Ala) c.1973A>C (p.Glu658Ala) n.3009A>C c.1970A>C (p.Glu657Ala) c.2015A>C (p.Glu672Ala) n.2350A>C c.2012A>C (p.Glu671Ala) c.1937A>C (p.Glu646Ala) c.1934A>C (p.Glu645Ala) c.1922A>C (p.Glu641Ala) | |
11 | g.22270428A>G | CA379923480 | ANO5 | n.32A>G c.1565A>G (p.Glu522Gly) c.1973A>G (p.Glu658Gly) n.3009A>G c.1970A>G (p.Glu657Gly) c.2015A>G (p.Glu672Gly) n.2350A>G c.2012A>G (p.Glu671Gly) c.1937A>G (p.Glu646Gly) c.1934A>G (p.Glu645Gly) c.1922A>G (p.Glu641Gly) | |
11 | g.22270428A>T | CA379923481 | ANO5 | n.32A>T c.1565A>T (p.Glu522Val) c.1973A>T (p.Glu658Val) n.3009A>T c.1970A>T (p.Glu657Val) c.2015A>T (p.Glu672Val) n.2350A>T c.2012A>T (p.Glu671Val) c.1937A>T (p.Glu646Val) c.1934A>T (p.Glu645Val) c.1922A>T (p.Glu641Val) | |
11 | g.22270429G>A | CA473407453 | ANO5 | n.33G>A c.1566G>A (p.Glu522=) c.1974G>A (p.Glu658=) n.3010G>A c.1971G>A (p.Glu657=) c.2016G>A (p.Glu672=) n.2351G>A c.2013G>A (p.Glu671=) c.1938G>A (p.Glu646=) c.1935G>A (p.Glu645=) c.1923G>A (p.Glu641=) | |
11 | g.22270429G>C | CA379923482 | ANO5 | n.33G>C c.1566G>C (p.Glu522Asp) c.1974G>C (p.Glu658Asp) n.3010G>C c.1971G>C (p.Glu657Asp) c.2016G>C (p.Glu672Asp) n.2351G>C c.2013G>C (p.Glu671Asp) c.1938G>C (p.Glu646Asp) c.1935G>C (p.Glu645Asp) c.1923G>C (p.Glu641Asp) | dbSNP |
11 | g.22270429G= | CA1957399105 | ANO5 | n.33G= c.1566G= (p.Glu522=) c.1974G= (p.Glu658=) n.3010G= c.1971G= (p.Glu657=) c.2016G= (p.Glu672=) n.2351G= c.2013G= (p.Glu671=) c.1938G= (p.Glu646=) c.1935G= (p.Glu645=) c.1923G= (p.Glu641=) | |
11 | g.22270429G>T | CA379923483 | ANO5 | n.33G>T c.1566G>T (p.Glu522Asp) c.1974G>T (p.Glu658Asp) n.3010G>T c.1971G>T (p.Glu657Asp) c.2016G>T (p.Glu672Asp) n.2351G>T c.2013G>T (p.Glu671Asp) c.1938G>T (p.Glu646Asp) c.1935G>T (p.Glu645Asp) c.1923G>T (p.Glu641Asp) | |
11 | g.22270430T>A | CA379923484 | ANO5 | n.34T>A c.1567T>A (p.Tyr523Asn) c.1975T>A (p.Tyr659Asn) n.3011T>A c.1972T>A (p.Tyr658Asn) c.2017T>A (p.Tyr673Asn) n.2352T>A c.2014T>A (p.Tyr672Asn) c.1939T>A (p.Tyr647Asn) c.1936T>A (p.Tyr646Asn) c.1924T>A (p.Tyr642Asn) | |
11 | g.22270430T>C | CA379923486 | ANO5 | n.34T>C c.1567T>C (p.Tyr523His) c.1975T>C (p.Tyr659His) n.3011T>C c.1972T>C (p.Tyr658His) c.2017T>C (p.Tyr673His) n.2352T>C c.2014T>C (p.Tyr672His) c.1939T>C (p.Tyr647His) c.1936T>C (p.Tyr646His) c.1924T>C (p.Tyr642His) | gnomAD v4 |
11 | g.22270430T>G | CA379923485 | ANO5 | n.34T>G c.1567T>G (p.Tyr523Asp) c.1975T>G (p.Tyr659Asp) n.3011T>G c.1972T>G (p.Tyr658Asp) c.2017T>G (p.Tyr673Asp) n.2352T>G c.2014T>G (p.Tyr672Asp) c.1939T>G (p.Tyr647Asp) c.1936T>G (p.Tyr646Asp) c.1924T>G (p.Tyr642Asp) | |
11 | g.22270431A= | CA1957399111 | ANO5 | n.35A= c.1568A= (p.Tyr523=) c.1976A= (p.Tyr659=) n.3012A= c.1973A= (p.Tyr658=) c.2018A= (p.Tyr673=) n.2353A= c.2015A= (p.Tyr672=) c.1940A= (p.Tyr647=) c.1937A= (p.Tyr646=) c.1925A= (p.Tyr642=) | |
11 | g.22270431A>C | CA379923487 | ANO5 | n.35A>C c.1568A>C (p.Tyr523Ser) c.1976A>C (p.Tyr659Ser) n.3012A>C c.1973A>C (p.Tyr658Ser) c.2018A>C (p.Tyr673Ser) n.2353A>C c.2015A>C (p.Tyr672Ser) c.1940A>C (p.Tyr647Ser) c.1937A>C (p.Tyr646Ser) c.1925A>C (p.Tyr642Ser) | |
11 | g.22270431A>G | CA232789 | ANO5 | n.35A>G c.1568A>G (p.Tyr523Cys) c.1976A>G (p.Tyr659Cys) n.3012A>G c.1973A>G (p.Tyr658Cys) c.2018A>G (p.Tyr673Cys) n.2353A>G c.2015A>G (p.Tyr672Cys) c.1940A>G (p.Tyr647Cys) c.1937A>G (p.Tyr646Cys) c.1925A>G (p.Tyr642Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22270431A>T | CA379923488 | ANO5 | n.35A>T c.1568A>T (p.Tyr523Phe) c.1976A>T (p.Tyr659Phe) n.3012A>T c.1973A>T (p.Tyr658Phe) c.2018A>T (p.Tyr673Phe) n.2353A>T c.2015A>T (p.Tyr672Phe) c.1940A>T (p.Tyr647Phe) c.1937A>T (p.Tyr646Phe) c.1925A>T (p.Tyr642Phe) |